## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS AT2A2_HUMAN Event=Alternative splicing; Named isoforms=5; Comment=SERCA2 transcripts differ only in their 3'-UTR region and are expressed in a tissue-specific manner.; Name=1; Synonyms=ATP2A2B, Class 2-4, HK1, SERCA2b; IsoId=P16615-1; Sequence=Displayed; Note=Ubiquitous housekeeping isoform.; Name=2; Synonyms=ATP2A2A, Class 1, HK2, SERCA2a; IsoId=P16615-2; Sequence=VSP_000358; Note=Cardiac/slow twitch, muscle specific isoform. Has a lower affinity for calcium and a higher catalytic turnover rate.; Name=3; Synonyms=SERCA2C; IsoId=P16615-3; Sequence=VSP_039393; Note=May be due to intron retention. Shows a lower apparent affinity for cytosolic calcium than isoform 2 and a catalytic turnover rate similar to isoform 1.; Name=4; IsoId=P16615-4; Sequence=VSP_039392; Note=No experimental confirmation available.; Name=5; IsoId=P16615-5; Sequence=VSP_039394; Note=No experimental confirmation available.; # AltName AT2A2_HUMAN Calcium pump 2 # AltName AT2A2_HUMAN Calcium-transporting ATPase sarcoplasmic reticulum type, slow twitch skeletal muscle isoform # AltName AT2A2_HUMAN Endoplasmic reticulum class 1/2 Ca(2+) ATPase # BioGrid 106978 70 # CATALYTIC ACTIVITY AT2A2_HUMAN ATP + H(2)O + Ca(2+)(Side 1) = ADP + phosphate + Ca(2+)(Side 2). # CCDS CCDS9143 -. [P16615-2] # CCDS CCDS9144 -. [P16615-1] # ChiTaRS ATP2A2 human # DISEASE AT2A2_HUMAN Acrokeratosis verruciformis (AKV) [MIM 101900] A localized disorder of keratinization, which is inherited as an autosomal dominant trait. Its onset is early in life with multiple flat-topped, flesh-colored papules on the hands and feet, punctate keratoses on the palms and soles, with varying degrees of nail involvement. The histopathology shows a distinctive pattern of epidermal features with hyperkeratosis, hypergranulosis and acanthosis together with papillomatosis. These changes are frequently associated with circumscribed elevations of the epidermis that are said to resemble church spires. There are no features of dyskeratosis or acantholysis, the typical findings in lesions of Darier disease. {ECO 0000269|PubMed 12542527}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE AT2A2_HUMAN Darier disease (DD) [MIM 124200] A skin disorder characterized by warty papules and plaques in seborrheic areas (central trunk, flexures, scalp and forehead), palmoplantar pits and distinctive nail abnormalities. It is due to loss of adhesion between epidermal cells (acantholysis) and abnormal keratinization. Patients with mild disease may have no more than a few scattered keratotic papules or subtle nail changes, whereas those with severe disease are handicapped by widespread malodorous keratotic plaques. Some patients present with hemorrhage into acantholytic vesicles on the palms and dorsal aspects of the fingers which gives rise to black macules. In a few families affected by Darier disease, neuropsychiatric abnormalities such as mild mental retardation, schizophrenia, bipolar disorder and epilepsy have been reported. Stress, UV exposure, heat, sweat, friction and oral contraception exacerbate disease symptoms. Clinical variants of Darier disease include hypertrophic, vesicobullous, hypopigmented, cornifying, zosteriform or linear, acute and comedonal subtypes. Comedonal Darier disease is characterized by the coexistence of acne-like comedonal lesions with typical Darier hyperkeratotic papules on light-exposed areas. At histopathologic level, comedonal Darier disease differs from classic Darier disease in the prominent follicular involvement and the presence of greatly elongated dermal villi. {ECO 0000269|PubMed 10080178, ECO 0000269|PubMed 10441323, ECO 0000269|PubMed 10441324, ECO 0000269|PubMed 10441325, ECO 0000269|PubMed 19995371}. Note=The disease is caused by mutations affecting the gene represented in this entry. # ENZYME REGULATION AT2A2_HUMAN Reversibly inhibited by phospholamban (PLN) at low calcium concentrations (By similarity). Inhibited by sarcolipin (SLN) and myoregulin (MRLN) (By similarity). Enhanced by DWORF; DWORF increases activity by displacing sarcolipin (SLN), phospholamban (PLN) and myoregulin (MRLN) (By similarity). {ECO 0000250|UniProtKB O55143, ECO 0000250|UniProtKB P04191, ECO 0000250|UniProtKB Q8R429}. # Ensembl ENST00000308664 ENSP00000311186; ENSG00000174437. [P16615-2] # Ensembl ENST00000539276 ENSP00000440045; ENSG00000174437. [P16615-1] # ExpressionAtlas P16615 baseline and differential # FUNCTION AT2A2_HUMAN This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen. Isoform 2 is involved in the regulation of the contraction/relaxation cycle (PubMed 16402920). Acts as a regulator of TNFSF11-mediated Ca(2+) signaling pathways via its interaction with TMEM64 which is critical for the TNFSF11- induced CREB1 activation and mitochondrial ROS generation necessary for proper osteoclast generation. Association between TMEM64 and SERCA2 in the ER leads to cytosolic Ca (2+) spiking for activation of NFATC1 and production of mitochondrial ROS, thereby triggering Ca (2+) signaling cascades that promote osteoclast differentiation and activation (By similarity). {ECO 0000250|UniProtKB O55143, ECO 0000269|PubMed 16402920}. # GO_component GO:0005783 endoplasmic reticulum; IDA:UniProtKB. # GO_component GO:0005789 endoplasmic reticulum membrane; IDA:UniProtKB. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0012506 vesicle membrane; IEA:Ensembl. # GO_component GO:0014801 longitudinal sarcoplasmic reticulum; IDA:BHF-UCL. # GO_component GO:0016020 membrane; IDA:MGI. # GO_component GO:0016529 sarcoplasmic reticulum; IDA:BHF-UCL. # GO_component GO:0031095 platelet dense tubular network membrane; TAS:Reactome. # GO_component GO:0031234 extrinsic component of cytoplasmic side of plasma membrane; IEA:Ensembl. # GO_component GO:0033017 sarcoplasmic reticulum membrane; TAS:BHF-UCL. # GO_component GO:0043234 protein complex; IEA:Ensembl. # GO_component GO:0048471 perinuclear region of cytoplasm; IEA:Ensembl. # GO_component GO:0090534 calcium ion-transporting ATPase complex; IDA:BHF-UCL. # GO_component GO:0097470 ribbon synapse; IEA:Ensembl. # GO_function GO:0005388 calcium-transporting ATPase activity; IDA:BHF-UCL. # GO_function GO:0005509 calcium ion binding; IDA:BHF-UCL. # GO_function GO:0005524 ATP binding; IEA:UniProtKB-KW. # GO_function GO:0008022 protein C-terminus binding; IPI:UniProtKB. # GO_function GO:0019899 enzyme binding; IPI:BHF-UCL. # GO_function GO:0044548 S100 protein binding; IPI:UniProtKB. # GO_function GO:0086039 calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential; ISS:BHF-UCL. # GO_process GO:0002026 regulation of the force of heart contraction; IEA:Ensembl. # GO_process GO:0006874 cellular calcium ion homeostasis; IDA:BHF-UCL. # GO_process GO:0006984 ER-nucleus signaling pathway; IEA:Ensembl. # GO_process GO:0006996 organelle organization; IEA:Ensembl. # GO_process GO:0007155 cell adhesion; TAS:ProtInc. # GO_process GO:0008544 epidermis development; TAS:ProtInc. # GO_process GO:0010460 positive regulation of heart rate; TAS:BHF-UCL. # GO_process GO:0010882 regulation of cardiac muscle contraction by calcium ion signaling; IDA:BHF-UCL. # GO_process GO:0014883 transition between fast and slow fiber; IEA:Ensembl. # GO_process GO:0014898 cardiac muscle hypertrophy in response to stress; IEA:Ensembl. # GO_process GO:0032469 endoplasmic reticulum calcium ion homeostasis; IDA:BHF-UCL. # GO_process GO:0032470 positive regulation of endoplasmic reticulum calcium ion concentration; IDA:BHF-UCL. # GO_process GO:0033292 T-tubule organization; IEA:Ensembl. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0034599 cellular response to oxidative stress; IEA:Ensembl. # GO_process GO:0034976 response to endoplasmic reticulum stress; ISS:ParkinsonsUK-UCL. # GO_process GO:0043434 response to peptide hormone; IEA:Ensembl. # GO_process GO:0045822 negative regulation of heart contraction; IEA:Ensembl. # GO_process GO:0055119 relaxation of cardiac muscle; IDA:BHF-UCL. # GO_process GO:0070296 sarcoplasmic reticulum calcium ion transport; TAS:BHF-UCL. # GO_process GO:0070588 calcium ion transmembrane transport; IDA:BHF-UCL. # GO_process GO:0086036 regulation of cardiac muscle cell membrane potential; ISS:BHF-UCL. # GO_process GO:0098909 regulation of cardiac muscle cell action potential involved in regulation of contraction; ISS:BHF-UCL. # GO_process GO:1903233 regulation of calcium ion-dependent exocytosis of neurotransmitter; IEA:Ensembl. # GO_process GO:1903515 calcium ion transport from cytosol to endoplasmic reticulum; IDA:BHF-UCL. # GO_process GO:1903779 regulation of cardiac conduction; TAS:Reactome. # GO_process GO:1990036 calcium ion import into sarcoplasmic reticulum; ISS:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0019899 enzyme binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007155 cell adhesion # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0055085 transmembrane transport # GOslim_process GO:0061024 membrane organization # Gene3D 1.20.1110.10 -; 2. # Gene3D 2.70.150.10 -; 2. # Gene3D 3.40.1110.10 -; 1. # Genevisible P16615 HS # HGNC HGNC:812 ATP2A2 # INTERACTION AT2A2_HUMAN P41143 OPRD1; NbExp=3; IntAct=EBI-358933, EBI-2624456; # IntAct P16615 65 # InterPro IPR001757 P_typ_ATPase # InterPro IPR004014 ATPase_P-typ_cation-transptr_N # InterPro IPR005782 P-type_ATPase_IIA # InterPro IPR006068 ATPase_P-typ_cation-transptr_C # InterPro IPR008250 ATPase_P-typ_transduc_dom_A # InterPro IPR018303 ATPase_P-typ_P_site # InterPro IPR023214 HAD-like_dom # InterPro IPR023298 ATPase_P-typ_TM_dom # InterPro IPR023299 ATPase_P-typ_cyto_domN # InterPro IPR030327 SERCA2 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko01000 Enzymes # KEGG_Disease H00715 [Skin and connective tissue disease] Dyskeratosis follicularis # KEGG_Disease H00755 [Skin and connective tissue disease] Acrokeratosis verruciformis # KEGG_Pathway ko04020 Calcium signaling pathway # KEGG_Pathway ko04972 Pancreatic secretion # KEGG_Pathway ko05010 Alzheimer's disease # MIM 101900 phenotype # MIM 108740 gene # MIM 124200 phenotype # Organism AT2A2_HUMAN Homo sapiens (Human) # Orphanet 218 Darier disease # Orphanet 79151 Acrokeratosis verruciformis of Hopf # PANTHER PTHR24093:SF234 PTHR24093:SF234; 2 # PIR A31981 A31981 # PIR B31981 B31981 # PRINTS PR00120 HATPASE # PROSITE PS00154 ATPASE_E1_E2 # PTM AT2A2_HUMAN Nitrated under oxidative stress. Nitration on the two tyrosine residues inhibits catalytic activity. {ECO 0000269|PubMed 16399855}. # Pfam PF00122 E1-E2_ATPase # Pfam PF00689 Cation_ATPase_C # Pfam PF00690 Cation_ATPase_N # Pfam PF08282 Hydrolase_3 # Proteomes UP000005640 Chromosome 12 # Reactome R-HSA-1912420 Pre-NOTCH Processing in Golgi # Reactome R-HSA-418359 Reduction of cytosolic Ca++ levels # Reactome R-HSA-5578775 Ion homeostasis # Reactome R-HSA-936837 Ion transport by P-type ATPases # RecName AT2A2_HUMAN Sarcoplasmic/endoplasmic reticulum calcium ATPase 2 # RefSeq NP_001672 NM_001681.3. [P16615-2] # RefSeq NP_733765 NM_170665.3. [P16615-1] # RefSeq XP_005253945 XM_005253888.2. [P16615-3] # RefSeq XP_011536704 XM_011538402.2. [P16615-3] # SEQUENCE CAUTION Sequence=BAG57266.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIA subfamily. {ECO 0000305}. # SMART SM00831 Cation_ATPase_N # SUBCELLULAR LOCATION AT2A2_HUMAN Endoplasmic reticulum membrane {ECO 0000250|UniProtKB O55143}; Multi-pass membrane protein {ECO 0000255}. Sarcoplasmic reticulum membrane {ECO 0000250|UniProtKB O55143}; Multi-pass membrane protein {ECO 0000255}. # SUBUNIT AT2A2_HUMAN Interacts with sarcolipin (SLN) (By similarity). Interacts with phospholamban (PLN) (By similarity). Interacts with myoregulin (MRLN) (By similarity). Interacts with DWORF (By similarity). Isoform 1 interacts with TRAM2 (via C-terminus) (PubMed 14749390). Interacts with HAX1 (PubMed 18971376). Interacts with S100A8 and S100A9 (By similarity). Interacts with SLC35G1 and STIM1 (PubMed 22084111). Interacts with TMEM203 (PubMed 25996873). Interacts with TMEM64 and PDIA3 (By similarity). {ECO 0000250|UniProtKB O55143, ECO 0000250|UniProtKB P04191, ECO 0000250|UniProtKB Q8R429, ECO 0000269|PubMed 14749390, ECO 0000269|PubMed 18971376, ECO 0000269|PubMed 22084111, ECO 0000269|PubMed 25996873}. # SUPFAM SSF56784 SSF56784 # SUPFAM SSF81660 SSF81660 # TCDB 3.A.3.2 the p-type atpase (p-atpase) superfamily # TIGRFAMs TIGR01116 ATPase-IIA1_Ca # TIGRFAMs TIGR01494 ATPase_P-type; 2 # TISSUE SPECIFICITY AT2A2_HUMAN Isoform 1 is widely expressed in smooth muscle and nonmuscle tissues such as in adult skin epidermis, with highest expression in liver, pancreas and lung, and intermediate expression in brain, kidney and placenta. Also expressed at lower levels in heart and skeletal muscle. Isoforms 2 and 3 are highly expressed in the heart and slow twitch skeletal muscle. Expression of isoform 3 is predominantly restricted to cardiomyocytes and in close proximity to the sarcolemma. Both isoforms are mildly expressed in lung, kidney, liver, pancreas and placenta. Expression of isoform 3 is amplified during monocytic differentiation and also observed in the fetal heart. {ECO 0000269|PubMed 10441324, ECO 0000269|PubMed 12659872, ECO 0000269|PubMed 16402920}. # UCSC uc001tqk human. [P16615-1] # eggNOG COG0474 LUCA # eggNOG KOG0202 Eukaryota BLAST swissprot:AT2A2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:AT2A2_HUMAN BioCyc ZFISH:HS10797-MONOMER http://biocyc.org/getid?id=ZFISH:HS10797-MONOMER COXPRESdb 488 http://coxpresdb.jp/data/gene/488.shtml CleanEx HS_ATP2A2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ATP2A2 DIP DIP-33868N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-33868N DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1016/S0006-291X(03)00405-4 http://dx.doi.org/10.1016/S0006-291X(03)00405-4 DOI 10.1016/j.cell.2006.09.026 http://dx.doi.org/10.1016/j.cell.2006.09.026 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1016/j.molcel.2008.07.007 http://dx.doi.org/10.1016/j.molcel.2008.07.007 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/6784 http://dx.doi.org/10.1038/6784 DOI 10.1038/nature04569 http://dx.doi.org/10.1038/nature04569 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1042/BJ20051427 http://dx.doi.org/10.1042/BJ20051427 DOI 10.1046/j.1523-1747.2003.t01-1-12045.x http://dx.doi.org/10.1046/j.1523-1747.2003.t01-1-12045.x DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1073/pnas.1117231108 http://dx.doi.org/10.1073/pnas.1117231108 DOI 10.1091/mbc.E08-06-0587 http://dx.doi.org/10.1091/mbc.E08-06-0587 DOI 10.1093/hmg/8.9.1611 http://dx.doi.org/10.1093/hmg/8.9.1611 DOI 10.1093/hmg/8.9.1621 http://dx.doi.org/10.1093/hmg/8.9.1621 DOI 10.1093/hmg/8.9.1631 http://dx.doi.org/10.1093/hmg/8.9.1631 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1365-2133.2009.09580.x http://dx.doi.org/10.1111/j.1365-2133.2009.09580.x DOI 10.1126/scisignal.2000007 http://dx.doi.org/10.1126/scisignal.2000007 DOI 10.1128/MCB.24.4.1758-1768.2004 http://dx.doi.org/10.1128/MCB.24.4.1758-1768.2004 DOI 10.1152/ajpheart.01293.2005 http://dx.doi.org/10.1152/ajpheart.01293.2005 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DOI 10.1371/journal.pone.0127480 http://dx.doi.org/10.1371/journal.pone.0127480 EC_number EC:3.6.3.8 http://www.genome.jp/dbget-bin/www_bget?EC:3.6.3.8 EMBL AC006088 http://www.ebi.ac.uk/ena/data/view/AC006088 EMBL AK293877 http://www.ebi.ac.uk/ena/data/view/AK293877 EMBL AY186578 http://www.ebi.ac.uk/ena/data/view/AY186578 EMBL BC035588 http://www.ebi.ac.uk/ena/data/view/BC035588 EMBL M23114 http://www.ebi.ac.uk/ena/data/view/M23114 EMBL M23115 http://www.ebi.ac.uk/ena/data/view/M23115 EMBL M23116 http://www.ebi.ac.uk/ena/data/view/M23116 EMBL M23116 http://www.ebi.ac.uk/ena/data/view/M23116 EMBL M23278 http://www.ebi.ac.uk/ena/data/view/M23278 ENZYME 3.6.3.8 http://enzyme.expasy.org/EC/3.6.3.8 Ensembl ENST00000308664 http://www.ensembl.org/id/ENST00000308664 Ensembl ENST00000539276 http://www.ensembl.org/id/ENST00000539276 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GO_component GO:0005789 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005789 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0012506 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0012506 GO_component GO:0014801 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014801 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016529 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016529 GO_component GO:0031095 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031095 GO_component GO:0031234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031234 GO_component GO:0033017 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033017 GO_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GO_component GO:0048471 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048471 GO_component GO:0090534 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090534 GO_component GO:0097470 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097470 GO_function GO:0005388 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005388 GO_function GO:0005509 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005509 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0008022 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008022 GO_function GO:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GO_function GO:0044548 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044548 GO_function GO:0086039 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086039 GO_process GO:0002026 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002026 GO_process GO:0006874 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006874 GO_process GO:0006984 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006984 GO_process GO:0006996 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006996 GO_process GO:0007155 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007155 GO_process GO:0008544 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008544 GO_process GO:0010460 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010460 GO_process GO:0010882 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010882 GO_process GO:0014883 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014883 GO_process GO:0014898 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014898 GO_process GO:0032469 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032469 GO_process GO:0032470 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032470 GO_process GO:0033292 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033292 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0034599 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034599 GO_process GO:0034976 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034976 GO_process GO:0043434 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043434 GO_process GO:0045822 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045822 GO_process GO:0055119 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055119 GO_process GO:0070296 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070296 GO_process GO:0070588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070588 GO_process GO:0086036 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086036 GO_process GO:0098909 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0098909 GO_process GO:1903233 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903233 GO_process GO:1903515 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903515 GO_process GO:1903779 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903779 GO_process GO:1990036 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1990036 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007155 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007155 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GOslim_process GO:0061024 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061024 Gene3D 1.20.1110.10 http://www.cathdb.info/version/latest/superfamily/1.20.1110.10 Gene3D 2.70.150.10 http://www.cathdb.info/version/latest/superfamily/2.70.150.10 Gene3D 3.40.1110.10 http://www.cathdb.info/version/latest/superfamily/3.40.1110.10 GeneCards ATP2A2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ATP2A2 GeneID 488 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=488 GeneTree ENSGT00850000132256 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00850000132256 HGNC HGNC:812 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:812 HOGENOM HOG000265621 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000265621&db=HOGENOM6 HOVERGEN HBG105648 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG105648&db=HOVERGEN HPA HPA062605 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA062605 HPA HPA067892 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA067892 InParanoid P16615 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P16615 IntAct P16615 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P16615* IntEnz 3.6.3.8 http://www.ebi.ac.uk/intenz/query?cmd=Search&q=3.6.3.8 InterPro IPR001757 http://www.ebi.ac.uk/interpro/entry/IPR001757 InterPro IPR004014 http://www.ebi.ac.uk/interpro/entry/IPR004014 InterPro IPR005782 http://www.ebi.ac.uk/interpro/entry/IPR005782 InterPro IPR006068 http://www.ebi.ac.uk/interpro/entry/IPR006068 InterPro IPR008250 http://www.ebi.ac.uk/interpro/entry/IPR008250 InterPro IPR018303 http://www.ebi.ac.uk/interpro/entry/IPR018303 InterPro IPR023214 http://www.ebi.ac.uk/interpro/entry/IPR023214 InterPro IPR023298 http://www.ebi.ac.uk/interpro/entry/IPR023298 InterPro IPR023299 http://www.ebi.ac.uk/interpro/entry/IPR023299 InterPro IPR030327 http://www.ebi.ac.uk/interpro/entry/IPR030327 Jabion 488 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=488 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Disease H00715 http://www.genome.jp/dbget-bin/www_bget?H00715 KEGG_Disease H00755 http://www.genome.jp/dbget-bin/www_bget?H00755 KEGG_Gene hsa:488 http://www.genome.jp/dbget-bin/www_bget?hsa:488 KEGG_Orthology KO:K05853 http://www.genome.jp/dbget-bin/www_bget?KO:K05853 KEGG_Pathway ko04020 http://www.genome.jp/kegg-bin/show_pathway?ko04020 KEGG_Pathway ko04972 http://www.genome.jp/kegg-bin/show_pathway?ko04972 KEGG_Pathway ko05010 http://www.genome.jp/kegg-bin/show_pathway?ko05010 MIM 101900 http://www.ncbi.nlm.nih.gov/omim/101900 MIM 108740 http://www.ncbi.nlm.nih.gov/omim/108740 MIM 124200 http://www.ncbi.nlm.nih.gov/omim/124200 MINT MINT-4991144 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-4991144 OMA DDMIFLG http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=DDMIFLG Orphanet 218 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=218 Orphanet 79151 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=79151 OrthoDB EOG091G01LE http://cegg.unige.ch/orthodb/results?searchtext=EOG091G01LE PANTHER PTHR24093:SF234 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24093:SF234 PRINTS PR00120 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00120 PROSITE PS00154 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00154 PSORT swissprot:AT2A2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:AT2A2_HUMAN PSORT-B swissprot:AT2A2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:AT2A2_HUMAN PSORT2 swissprot:AT2A2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:AT2A2_HUMAN Pfam PF00122 http://pfam.xfam.org/family/PF00122 Pfam PF00689 http://pfam.xfam.org/family/PF00689 Pfam PF00690 http://pfam.xfam.org/family/PF00690 Pfam PF08282 http://pfam.xfam.org/family/PF08282 PharmGKB PA71 http://www.pharmgkb.org/do/serve?objId=PA71&objCls=Gene Phobius swissprot:AT2A2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:AT2A2_HUMAN PhylomeDB P16615 http://phylomedb.org/?seqid=P16615 ProteinModelPortal P16615 http://www.proteinmodelportal.org/query/uniprot/P16615 PubMed 10080178 http://www.ncbi.nlm.nih.gov/pubmed/10080178 PubMed 10441323 http://www.ncbi.nlm.nih.gov/pubmed/10441323 PubMed 10441324 http://www.ncbi.nlm.nih.gov/pubmed/10441324 PubMed 10441325 http://www.ncbi.nlm.nih.gov/pubmed/10441325 PubMed 12542527 http://www.ncbi.nlm.nih.gov/pubmed/12542527 PubMed 12659872 http://www.ncbi.nlm.nih.gov/pubmed/12659872 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 14749390 http://www.ncbi.nlm.nih.gov/pubmed/14749390 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16399855 http://www.ncbi.nlm.nih.gov/pubmed/16399855 PubMed 16402920 http://www.ncbi.nlm.nih.gov/pubmed/16402920 PubMed 16541075 http://www.ncbi.nlm.nih.gov/pubmed/16541075 PubMed 17081983 http://www.ncbi.nlm.nih.gov/pubmed/17081983 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 18691976 http://www.ncbi.nlm.nih.gov/pubmed/18691976 PubMed 18971376 http://www.ncbi.nlm.nih.gov/pubmed/18971376 PubMed 19690332 http://www.ncbi.nlm.nih.gov/pubmed/19690332 PubMed 19995371 http://www.ncbi.nlm.nih.gov/pubmed/19995371 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 22084111 http://www.ncbi.nlm.nih.gov/pubmed/22084111 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 25996873 http://www.ncbi.nlm.nih.gov/pubmed/25996873 PubMed 2844796 http://www.ncbi.nlm.nih.gov/pubmed/2844796 Reactome R-HSA-1912420 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1912420 Reactome R-HSA-418359 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-418359 Reactome R-HSA-5578775 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5578775 Reactome R-HSA-936837 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-936837 RefSeq NP_001672 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001672 RefSeq NP_733765 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_733765 RefSeq XP_005253945 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005253945 RefSeq XP_011536704 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011536704 SMART SM00831 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00831 SMR P16615 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P16615 STRING 9606.ENSP00000440045 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000440045&targetmode=cogs SUPFAM SSF56784 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF56784 SUPFAM SSF81660 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81660 TCDB 3.A.3.2 http://www.tcdb.org/search/result.php?tc=3.A.3.2 TIGRFAMs TIGR01116 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01116 TIGRFAMs TIGR01494 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01494 UCSC uc001tqk http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001tqk&org=rat UniGene Hs.506759 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.506759 UniProtKB AT2A2_HUMAN http://www.uniprot.org/uniprot/AT2A2_HUMAN UniProtKB-AC P16615 http://www.uniprot.org/uniprot/P16615 charge swissprot:AT2A2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:AT2A2_HUMAN eggNOG COG0474 http://eggnogapi.embl.de/nog_data/html/tree/COG0474 eggNOG KOG0202 http://eggnogapi.embl.de/nog_data/html/tree/KOG0202 epestfind swissprot:AT2A2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:AT2A2_HUMAN garnier swissprot:AT2A2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:AT2A2_HUMAN helixturnhelix swissprot:AT2A2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:AT2A2_HUMAN hmoment swissprot:AT2A2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:AT2A2_HUMAN iep swissprot:AT2A2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:AT2A2_HUMAN inforesidue swissprot:AT2A2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:AT2A2_HUMAN neXtProt NX_P16615 http://www.nextprot.org/db/entry/NX_P16615 octanol swissprot:AT2A2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:AT2A2_HUMAN pepcoil swissprot:AT2A2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:AT2A2_HUMAN pepdigest swissprot:AT2A2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:AT2A2_HUMAN pepinfo swissprot:AT2A2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:AT2A2_HUMAN pepnet swissprot:AT2A2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:AT2A2_HUMAN pepstats swissprot:AT2A2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:AT2A2_HUMAN pepwheel swissprot:AT2A2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:AT2A2_HUMAN pepwindow swissprot:AT2A2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:AT2A2_HUMAN sigcleave swissprot:AT2A2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:AT2A2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=KCC2a; IsoId=Q9H2X9-1; Sequence=Displayed; Name=2; Synonyms=KCC2b; IsoId=Q9H2X9-2; Sequence=VSP_029909; Note=Ref.1 (AAG43493) sequence is in conflict in position: 2 L->P. {ECO:0000305}; # AltName S12A5_HUMAN Electroneutral potassium-chloride cotransporter 2 # AltName S12A5_HUMAN K-Cl cotransporter 2 # AltName S12A5_HUMAN Neuronal K-Cl cotransporter # BioGrid 121538 2 # CCDS CCDS13391 -. [Q9H2X9-2] # CCDS CCDS46610 -. [Q9H2X9-1] # DISEASE S12A5_HUMAN Epilepsy, idiopathic generalized 14 (EIG14) [MIM 616685] An autosomal dominant form of idiopathic generalized epilepsy, a disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. Seizure types include juvenile myoclonic seizures, absence seizures, and generalized tonic-clonic seizures. {ECO 0000269|PubMed 24668262, ECO 0000269|PubMed 24928908, ECO 0000269|PubMed 26528127}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. # DISEASE S12A5_HUMAN Epileptic encephalopathy, early infantile, 34 (EIEE34) [MIM 616645] A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE34 is characterized by onset of refractory migrating focal seizures in infancy. Affected children show developmental regression and are severely impaired globally. {ECO 0000269|PubMed 26333769}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DrugBank DB00761 Potassium Chloride # DrugBank DB00887 Bumetanide # ENZYME REGULATION Inhibited by WNK3. {ECO:0000269|PubMed 21613606}. # Ensembl ENST00000243964 ENSP00000243964; ENSG00000124140. [Q9H2X9-2] # Ensembl ENST00000454036 ENSP00000387694; ENSG00000124140. [Q9H2X9-1] # ExpressionAtlas Q9H2X9 baseline and differential # FUNCTION S12A5_HUMAN Mediates electroneutral potassium-chloride cotransport in mature neurons and is required for neuronal Cl(-) homeostasis. As major extruder of intracellular chloride, it establishes the low neuronal Cl(-) levels required for chloride influx after binding of GABA-A and glycine to their receptors, with subsequent hyperpolarization and neuronal inhibition (By similarity). Involved in the regulation of dendritic spine formation and maturation (PubMed 24668262). {ECO 0000250|UniProtKB Q63633, ECO 0000269|PubMed 24668262}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IEA:InterPro. # GO_component GO:0016021 integral component of membrane; NAS:UniProtKB. # GO_component GO:0043025 neuronal cell body; IEA:Ensembl. # GO_component GO:0043198 dendritic shaft; IEA:Ensembl. # GO_function GO:0015108 chloride transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0019901 protein kinase binding; IPI:ParkinsonsUK-UCL. # GO_function GO:0022820 potassium ion symporter activity; IBA:GO_Central. # GO_function S12A5_HUMAN GO 0015379 potassium chloride symporter activity; NAS UniProtKB. # GO_process GO:0006810 transport; NAS:UniProtKB. # GO_process GO:0006811 ion transport; TAS:Reactome. # GO_process GO:0006873 cellular ion homeostasis; NAS:UniProtKB. # GO_process GO:0007268 chemical synaptic transmission; IBA:GO_Central. # GO_process GO:0007612 learning; IEA:Ensembl. # GO_process GO:0030644 cellular chloride ion homeostasis; IDA:UniProtKB. # GO_process GO:0035264 multicellular organism growth; IEA:Ensembl. # GO_process GO:0040040 thermosensory behavior; IEA:Ensembl. # GO_process GO:0042493 response to drug; IEA:Ensembl. # GO_process GO:0060996 dendritic spine development; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0019899 enzyme binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # GOslim_process GO:0040007 growth # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0050877 neurological system process # Genevisible Q9H2X9 HS # HGNC HGNC:13818 SLC12A5 # InterPro IPR000076 KCL_cotranspt # InterPro IPR004841 AA-permease/SLC12A_dom # InterPro IPR004842 SLC12A_fam # InterPro IPR018491 SLC12_C # InterPro IPR030358 KCC2 # KEGG_Brite ko02001 Solute carrier family # MIM 606726 gene # MIM 616645 phenotype # MIM 616685 phenotype # MISCELLANEOUS S12A5_HUMAN Inhibited by furosemide and bumetanide. # Organism S12A5_HUMAN Homo sapiens (Human) # PANTHER PTHR11827:SF54 PTHR11827:SF54; 4 # PRINTS PR01081 KCLTRNSPORT # Pfam PF00324 AA_permease; 2 # Pfam PF03522 SLC12; 3 # Proteomes UP000005640 Chromosome 20 # Reactome R-HSA-426117 Cation-coupled Chloride cotransporters # RecName S12A5_HUMAN Solute carrier family 12 member 5 # RefSeq NP_001128243 NM_001134771.1. [Q9H2X9-1] # RefSeq NP_065759 NM_020708.4. [Q9H2X9-2] # SIMILARITY Belongs to the SLC12A transporter family. {ECO 0000305}. # SUBCELLULAR LOCATION S12A5_HUMAN Membrane; Multi-pass membrane protein. # SUBUNIT Homomultimer and heteromultimer with other K-Cl cotransporters. Interacts with AP2A1 (By similarity). {ECO 0000250}. # TCDB 2.A.30.5 the cation-chloride cotransporter (ccc) family # TIGRFAMs TIGR00930 2a30 # TISSUE SPECIFICITY S12A5_HUMAN Brain specific. Detected in neuronal cells. # UCSC uc002xrb human. [Q9H2X9-1] # eggNOG COG0531 LUCA # eggNOG KOG2082 Eukaryota BLAST swissprot:S12A5_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S12A5_HUMAN BioCyc ZFISH:ENSG00000124140-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000124140-MONOMER COXPRESdb 57468 http://coxpresdb.jp/data/gene/57468.shtml CleanEx HS_SLC12A5 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC12A5 DOI 10.1002/embr.201438749 http://dx.doi.org/10.1002/embr.201438749 DOI 10.1016/S0169-328X(02)00190-0 http://dx.doi.org/10.1016/S0169-328X(02)00190-0 DOI 10.1038/414865a http://dx.doi.org/10.1038/414865a DOI 10.1038/ncomms9038 http://dx.doi.org/10.1038/ncomms9038 DOI 10.1093/dnares/6.5.329 http://dx.doi.org/10.1093/dnares/6.5.329 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1101/gr.4039406 http://dx.doi.org/10.1101/gr.4039406 DOI 10.1126/science.1133427 http://dx.doi.org/10.1126/science.1133427 DOI 10.1152/ajpcell.00070.2011 http://dx.doi.org/10.1152/ajpcell.00070.2011 DOI 10.15252/embr.201438840 http://dx.doi.org/10.15252/embr.201438840 DOI 10.3389/fncel.2015.00386 http://dx.doi.org/10.3389/fncel.2015.00386 DrugBank DB00761 http://www.drugbank.ca/drugs/DB00761 DrugBank DB00887 http://www.drugbank.ca/drugs/DB00887 EMBL AB033002 http://www.ebi.ac.uk/ena/data/view/AB033002 EMBL AF208159 http://www.ebi.ac.uk/ena/data/view/AF208159 EMBL AL162458 http://www.ebi.ac.uk/ena/data/view/AL162458 EMBL BC132668 http://www.ebi.ac.uk/ena/data/view/BC132668 EMBL BC132670 http://www.ebi.ac.uk/ena/data/view/BC132670 EMBL DA102113 http://www.ebi.ac.uk/ena/data/view/DA102113 EMBL DA328785 http://www.ebi.ac.uk/ena/data/view/DA328785 Ensembl ENST00000243964 http://www.ensembl.org/id/ENST00000243964 Ensembl ENST00000454036 http://www.ensembl.org/id/ENST00000454036 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0043025 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043025 GO_component GO:0043198 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043198 GO_function GO:0015108 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015108 GO_function GO:0015379 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015379 GO_function GO:0019901 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019901 GO_function GO:0022820 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022820 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0006811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006811 GO_process GO:0006873 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006873 GO_process GO:0007268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007268 GO_process GO:0007612 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007612 GO_process GO:0030644 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030644 GO_process GO:0035264 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035264 GO_process GO:0040040 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0040040 GO_process GO:0042493 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042493 GO_process GO:0060996 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060996 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0040007 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0040007 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GeneCards SLC12A5 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC12A5 GeneID 57468 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=57468 GeneTree ENSGT00760000119053 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119053 HGNC HGNC:13818 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:13818 HOGENOM HOG000092644 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000092644&db=HOGENOM6 HOVERGEN HBG052852 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052852&db=HOVERGEN HPA HPA072058 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA072058 InParanoid Q9H2X9 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9H2X9 InterPro IPR000076 http://www.ebi.ac.uk/interpro/entry/IPR000076 InterPro IPR004841 http://www.ebi.ac.uk/interpro/entry/IPR004841 InterPro IPR004842 http://www.ebi.ac.uk/interpro/entry/IPR004842 InterPro IPR018491 http://www.ebi.ac.uk/interpro/entry/IPR018491 InterPro IPR030358 http://www.ebi.ac.uk/interpro/entry/IPR030358 Jabion 57468 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=57468 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:57468 http://www.genome.jp/dbget-bin/www_bget?hsa:57468 KEGG_Orthology KO:K14427 http://www.genome.jp/dbget-bin/www_bget?KO:K14427 MIM 606726 http://www.ncbi.nlm.nih.gov/omim/606726 MIM 616645 http://www.ncbi.nlm.nih.gov/omim/616645 MIM 616685 http://www.ncbi.nlm.nih.gov/omim/616685 OMA GWPRNWR http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=GWPRNWR OrthoDB EOG091G0WB4 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0WB4 PANTHER PTHR11827:SF54 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11827:SF54 PRINTS PR01081 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01081 PSORT swissprot:S12A5_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S12A5_HUMAN PSORT-B swissprot:S12A5_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S12A5_HUMAN PSORT2 swissprot:S12A5_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S12A5_HUMAN Pfam PF00324 http://pfam.xfam.org/family/PF00324 Pfam PF03522 http://pfam.xfam.org/family/PF03522 PharmGKB PA37814 http://www.pharmgkb.org/do/serve?objId=PA37814&objCls=Gene Phobius swissprot:S12A5_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S12A5_HUMAN PhylomeDB Q9H2X9 http://phylomedb.org/?seqid=Q9H2X9 ProteinModelPortal Q9H2X9 http://www.proteinmodelportal.org/query/uniprot/Q9H2X9 PubMed 10574461 http://www.ncbi.nlm.nih.gov/pubmed/10574461 PubMed 11780052 http://www.ncbi.nlm.nih.gov/pubmed/11780052 PubMed 12106695 http://www.ncbi.nlm.nih.gov/pubmed/12106695 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16344560 http://www.ncbi.nlm.nih.gov/pubmed/16344560 PubMed 16959974 http://www.ncbi.nlm.nih.gov/pubmed/16959974 PubMed 21613606 http://www.ncbi.nlm.nih.gov/pubmed/21613606 PubMed 24668262 http://www.ncbi.nlm.nih.gov/pubmed/24668262 PubMed 24928908 http://www.ncbi.nlm.nih.gov/pubmed/24928908 PubMed 26333769 http://www.ncbi.nlm.nih.gov/pubmed/26333769 PubMed 26528127 http://www.ncbi.nlm.nih.gov/pubmed/26528127 Reactome R-HSA-426117 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-426117 RefSeq NP_001128243 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001128243 RefSeq NP_065759 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_065759 STRING 9606.ENSP00000387694 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000387694&targetmode=cogs TCDB 2.A.30.5 http://www.tcdb.org/search/result.php?tc=2.A.30.5 TIGRFAMs TIGR00930 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00930 UCSC uc002xrb http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002xrb&org=rat UniGene Hs.21413 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.21413 UniProtKB S12A5_HUMAN http://www.uniprot.org/uniprot/S12A5_HUMAN UniProtKB-AC Q9H2X9 http://www.uniprot.org/uniprot/Q9H2X9 charge swissprot:S12A5_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S12A5_HUMAN eggNOG COG0531 http://eggnogapi.embl.de/nog_data/html/tree/COG0531 eggNOG KOG2082 http://eggnogapi.embl.de/nog_data/html/tree/KOG2082 epestfind swissprot:S12A5_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S12A5_HUMAN garnier swissprot:S12A5_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S12A5_HUMAN helixturnhelix swissprot:S12A5_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S12A5_HUMAN hmoment swissprot:S12A5_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S12A5_HUMAN iep swissprot:S12A5_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S12A5_HUMAN inforesidue swissprot:S12A5_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S12A5_HUMAN neXtProt NX_Q9H2X9 http://www.nextprot.org/db/entry/NX_Q9H2X9 octanol swissprot:S12A5_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S12A5_HUMAN pepcoil swissprot:S12A5_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S12A5_HUMAN pepdigest swissprot:S12A5_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S12A5_HUMAN pepinfo swissprot:S12A5_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S12A5_HUMAN pepnet swissprot:S12A5_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S12A5_HUMAN pepstats swissprot:S12A5_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S12A5_HUMAN pepwheel swissprot:S12A5_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S12A5_HUMAN pepwindow swissprot:S12A5_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S12A5_HUMAN sigcleave swissprot:S12A5_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S12A5_HUMAN ## Database ID URL or Descriptions # AltName CAHM1_HUMAN Protein FAM26C # ENZYME REGULATION Inhibited by Gd(3+), Ruthenium Red, and Zn(2+) and partially inhibited by 2-aminoethoxydiphenyl borate. {ECO:0000269|PubMed 22711817}. # Ensembl ENST00000329905 ENSP00000329926; ENSG00000185933 # FUNCTION CAHM1_HUMAN Pore-forming subunit of a voltage-gated ion channel required for sensory perception of sweet, bitter and umami tastes. Specifically present in type II taste bud cells, where it plays a central role in sweet, bitter and umami taste perception by inducing ATP release from the cell, ATP acting as a neurotransmitter to activate afferent neural gustatory pathways. Acts both as a voltage-gated and calcium-activated ion channel mediates neuronal excitability in response to changes in extracellular Ca(2+) concentration. Has poor ion selectivity and forms a wide pore (around 14 Angstroms) that mediates permeation of Ca(2+), Na(+) and K(+), as well as permeation of monovalent anions. Acts as an activator of the ERK1 and ERK2 cascade. Triggers endoplasmic reticulum stress by reducing the calcium content of the endoplasmic reticulum. May indirectly control amyloid precursor protein (APP) proteolysis and aggregated amyloid-beta (Abeta) peptides levels in a Ca(2+) dependent manner. {ECO 0000269|PubMed 18585350, ECO 0000269|PubMed 21574960, ECO 0000269|PubMed 22711817, ECO 0000269|PubMed 23300080, ECO 0000269|PubMed 23345406}. # GO_component GO:0005789 endoplasmic reticulum membrane; IEA:UniProtKB-SubCell. # GO_component GO:0005887 integral component of plasma membrane; IDA:UniProtKB. # GO_function GO:0005227 calcium activated cation channel activity; IDA:UniProtKB. # GO_function GO:0005244 voltage-gated ion channel activity; IDA:UniProtKB. # GO_function GO:0005245 voltage-gated calcium channel activity; IEA:Ensembl. # GO_process GO:0006812 cation transport; IDA:UniProtKB. # GO_process GO:0015867 ATP transport; ISS:UniProtKB. # GO_process GO:0034765 regulation of ion transmembrane transport; IDA:UniProtKB. # GO_process GO:0050913 sensory perception of bitter taste; ISS:UniProtKB. # GO_process GO:0050916 sensory perception of sweet taste; ISS:UniProtKB. # GO_process GO:0050917 sensory perception of umami taste; ISS:UniProtKB. # GO_process GO:0051260 protein homooligomerization; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0050877 neurological system process # Genevisible Q8IU99 HS # HGNC HGNC:23494 CALHM1 # INTERACTION CAHM1_HUMAN Self; NbExp=3; IntAct=EBI-1790341, EBI-1790341; # InterPro IPR029568 CALHM1 # InterPro IPR029569 FAM26 # MIM 612234 gene # Organism CAHM1_HUMAN Homo sapiens (Human) # PANTHER PTHR32261 PTHR32261; 2 # PANTHER PTHR32261:SF2 PTHR32261:SF2; 2 # POLYMORPHISM CAHM1_HUMAN Leu-86 causes a dysregulation of Ca(2+) homeostasis and amyloid precursor protein (APP) metabolism and has been suggested to be a risk factor for the development of Alzheimer disease (PubMed 18585350, PubMed 20061624, PubMed 20164592). However, this association with Alzheimer disease could not be confirmed in a number of studies performed in different populations (PubMed 19472444, PubMed 19070563, PubMed 19191331, PubMed 19191332, PubMed 19545933, PubMed 19655363, PubMed 21378601). According to a meta-analysis study, Leu-86 is likely not a genetic determinant of Alzheimer disease but may modulate age of onset by interacting with the effect of the APOE*4 allele of the APOE gene (PubMed 20847397). {ECO 0000269|PubMed 18585350, ECO 0000269|PubMed 19070563, ECO 0000269|PubMed 19191331, ECO 0000269|PubMed 19191332, ECO 0000269|PubMed 19472444, ECO 0000269|PubMed 19545933, ECO 0000269|PubMed 19655363, ECO 0000269|PubMed 20061624, ECO 0000269|PubMed 20164592, ECO 0000269|PubMed 20847397, ECO 0000269|PubMed 21378601}. # Pfam PF14798 Ca_hom_mod # Proteomes UP000005640 Chromosome 10 # RecName CAHM1_HUMAN Calcium homeostasis modulator protein 1 # RefSeq NP_001001412 NM_001001412.3 # SIMILARITY Belongs to the FAM26 family. {ECO 0000305}. # SUBCELLULAR LOCATION CAHM1_HUMAN Cell membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane; Multi-pass membrane protein. Note=Colocalizes with HSPA5 at the endoplasmic reticulum. # SUBUNIT CAHM1_HUMAN Homohexamer. {ECO 0000269|PubMed 18585350, ECO 0000269|PubMed 23300080}. # TCDB 1.A.84.1 the calcium homeostasis modulator ca(2+) channel (calhm-c) family # TISSUE SPECIFICITY CAHM1_HUMAN Predominantly expressed in adult brain. Detected also in retinoic acid-differentiated SH-SY5Y cells. Specifically expressed in circumvallate taste bud cells. {ECO 0000269|PubMed 18585350, ECO 0000269|PubMed 19997627}. # UCSC uc001kxe human # eggNOG ENOG410IG7G Eukaryota # eggNOG ENOG410YNIM LUCA BLAST swissprot:CAHM1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CAHM1_HUMAN BioCyc ZFISH:G66-32619-MONOMER http://biocyc.org/getid?id=ZFISH:G66-32619-MONOMER COXPRESdb 255022 http://coxpresdb.jp/data/gene/255022.shtml CleanEx HS_CALHM1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CALHM1 DOI 10.1002/ajmg.b.31014 http://dx.doi.org/10.1002/ajmg.b.31014 DOI 10.1002/humu.20989 http://dx.doi.org/10.1002/humu.20989 DOI 10.1002/humu.20990 http://dx.doi.org/10.1002/humu.20990 DOI 10.1016/j.cell.2008.05.048 http://dx.doi.org/10.1016/j.cell.2008.05.048 DOI 10.1016/j.cell.2008.11.030 http://dx.doi.org/10.1016/j.cell.2008.11.030 DOI 10.1016/j.neurobiolaging.2009.05.008 http://dx.doi.org/10.1016/j.neurobiolaging.2009.05.008 DOI 10.1038/nature02462 http://dx.doi.org/10.1038/nature02462 DOI 10.1042/BJ20110479 http://dx.doi.org/10.1042/BJ20110479 DOI 10.1073/pnas.1204023109 http://dx.doi.org/10.1073/pnas.1204023109 DOI 10.1074/jbc.M112.409789 http://dx.doi.org/10.1074/jbc.M112.409789 DOI 10.1097/YPG.0b013e3283457bcc http://dx.doi.org/10.1097/YPG.0b013e3283457bcc DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1469-1809.2009.00509.x http://dx.doi.org/10.1111/j.1469-1809.2009.00509.x DOI 10.1242/jcs.117135 http://dx.doi.org/10.1242/jcs.117135 DOI 10.1371/journal.pone.0007682 http://dx.doi.org/10.1371/journal.pone.0007682 DOI 10.3233/JAD-2010-100933 http://dx.doi.org/10.3233/JAD-2010-100933 DOI 10.3233/JAD-2010-1207 http://dx.doi.org/10.3233/JAD-2010-1207 DOI 10.3233/JAD-2010-1357 http://dx.doi.org/10.3233/JAD-2010-1357 EMBL AL139339 http://www.ebi.ac.uk/ena/data/view/AL139339 EMBL BC036193 http://www.ebi.ac.uk/ena/data/view/BC036193 EMBL BC036208 http://www.ebi.ac.uk/ena/data/view/BC036208 Ensembl ENST00000329905 http://www.ensembl.org/id/ENST00000329905 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005789 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005789 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0005227 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005227 GO_function GO:0005244 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005244 GO_function GO:0005245 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005245 GO_process GO:0006812 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006812 GO_process GO:0015867 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015867 GO_process GO:0034765 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034765 GO_process GO:0050913 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050913 GO_process GO:0050916 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050916 GO_process GO:0050917 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050917 GO_process GO:0051260 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051260 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GeneCards CALHM1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CALHM1 GeneID 255022 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=255022 GeneTree ENSGT00530000062796 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000062796 H-InvDB HIX0201512 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0201512 HGNC HGNC:23494 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:23494 HOGENOM HOG000111295 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000111295&db=HOGENOM6 HOVERGEN HBG096020 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG096020&db=HOVERGEN HPA HPA018317 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA018317 InParanoid Q8IU99 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8IU99 InterPro IPR029568 http://www.ebi.ac.uk/interpro/entry/IPR029568 InterPro IPR029569 http://www.ebi.ac.uk/interpro/entry/IPR029569 Jabion 255022 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=255022 KEGG_Gene hsa:255022 http://www.genome.jp/dbget-bin/www_bget?hsa:255022 MIM 612234 http://www.ncbi.nlm.nih.gov/omim/612234 OMA MNNNVSM http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=MNNNVSM OrthoDB EOG091G09L8 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G09L8 PANTHER PTHR32261 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR32261 PANTHER PTHR32261:SF2 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR32261:SF2 PSORT swissprot:CAHM1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CAHM1_HUMAN PSORT-B swissprot:CAHM1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CAHM1_HUMAN PSORT2 swissprot:CAHM1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CAHM1_HUMAN Pfam PF14798 http://pfam.xfam.org/family/PF14798 PharmGKB PA162380954 http://www.pharmgkb.org/do/serve?objId=PA162380954&objCls=Gene Phobius swissprot:CAHM1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CAHM1_HUMAN PhylomeDB Q8IU99 http://phylomedb.org/?seqid=Q8IU99 ProteinModelPortal Q8IU99 http://www.proteinmodelportal.org/query/uniprot/Q8IU99 PubMed 15164054 http://www.ncbi.nlm.nih.gov/pubmed/15164054 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 18585350 http://www.ncbi.nlm.nih.gov/pubmed/18585350 PubMed 19070563 http://www.ncbi.nlm.nih.gov/pubmed/19070563 PubMed 19191331 http://www.ncbi.nlm.nih.gov/pubmed/19191331 PubMed 19191332 http://www.ncbi.nlm.nih.gov/pubmed/19191332 PubMed 19472444 http://www.ncbi.nlm.nih.gov/pubmed/19472444 PubMed 19545933 http://www.ncbi.nlm.nih.gov/pubmed/19545933 PubMed 19655363 http://www.ncbi.nlm.nih.gov/pubmed/19655363 PubMed 19997627 http://www.ncbi.nlm.nih.gov/pubmed/19997627 PubMed 20061624 http://www.ncbi.nlm.nih.gov/pubmed/20061624 PubMed 20164592 http://www.ncbi.nlm.nih.gov/pubmed/20164592 PubMed 20847397 http://www.ncbi.nlm.nih.gov/pubmed/20847397 PubMed 21378601 http://www.ncbi.nlm.nih.gov/pubmed/21378601 PubMed 21574960 http://www.ncbi.nlm.nih.gov/pubmed/21574960 PubMed 22711817 http://www.ncbi.nlm.nih.gov/pubmed/22711817 PubMed 23300080 http://www.ncbi.nlm.nih.gov/pubmed/23300080 PubMed 23345406 http://www.ncbi.nlm.nih.gov/pubmed/23345406 RefSeq NP_001001412 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001001412 STRING 9606.ENSP00000329926 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000329926&targetmode=cogs TCDB 1.A.84.1 http://www.tcdb.org/search/result.php?tc=1.A.84.1 UCSC uc001kxe http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001kxe&org=rat UniGene Hs.680365 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.680365 UniProtKB CAHM1_HUMAN http://www.uniprot.org/uniprot/CAHM1_HUMAN UniProtKB-AC Q8IU99 http://www.uniprot.org/uniprot/Q8IU99 charge swissprot:CAHM1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CAHM1_HUMAN eggNOG ENOG410IG7G http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IG7G eggNOG ENOG410YNIM http://eggnogapi.embl.de/nog_data/html/tree/ENOG410YNIM epestfind swissprot:CAHM1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CAHM1_HUMAN garnier swissprot:CAHM1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CAHM1_HUMAN helixturnhelix swissprot:CAHM1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CAHM1_HUMAN hmoment swissprot:CAHM1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CAHM1_HUMAN iep swissprot:CAHM1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CAHM1_HUMAN inforesidue swissprot:CAHM1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CAHM1_HUMAN neXtProt NX_Q8IU99 http://www.nextprot.org/db/entry/NX_Q8IU99 octanol swissprot:CAHM1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CAHM1_HUMAN pepcoil swissprot:CAHM1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CAHM1_HUMAN pepdigest swissprot:CAHM1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CAHM1_HUMAN pepinfo swissprot:CAHM1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CAHM1_HUMAN pepnet swissprot:CAHM1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CAHM1_HUMAN pepstats swissprot:CAHM1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CAHM1_HUMAN pepwheel swissprot:CAHM1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CAHM1_HUMAN pepwindow swissprot:CAHM1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CAHM1_HUMAN sigcleave swissprot:CAHM1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CAHM1_HUMAN ## Database ID URL or Descriptions # AltName CCGL_HUMAN Neuronal voltage-gated calcium channel gamma-like subunit # AltName CCGL_HUMAN Transmembrane protein 37 # BioGrid 126681 6 # ChiTaRS TMEM37 human # Ensembl ENST00000306406 ENSP00000303148; ENSG00000171227 # ExpressionAtlas Q8WXS4 baseline and differential # FUNCTION CCGL_HUMAN Thought to stabilize the calcium channel in an inactivated (closed) state. Modulates calcium current when coexpressed with CACNA1G (By similarity). {ECO 0000250|UniProtKB Q9JJV3}. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0005244 voltage-gated ion channel activity; IEA:UniProtKB-KW. # GO_function GO:0005262 calcium channel activity; IEA:UniProtKB-KW. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # Genevisible Q8WXS4 HS # HGNC HGNC:18216 TMEM37 # IntAct Q8WXS4 6 # InterPro IPR029372 Tmem37 # Organism CCGL_HUMAN Homo sapiens (Human) # PANTHER PTHR31767:SF0 PTHR31767:SF0 # Pfam PF15108 TMEM37 # Proteomes UP000005640 Chromosome 2 # RecName CCGL_HUMAN Voltage-dependent calcium channel gamma-like subunit # RefSeq NP_899063 NM_183240.2 # SIMILARITY Belongs to the PMP-22/EMP/MP20 family. CACNG subfamily. {ECO 0000255}. # SUBCELLULAR LOCATION CCGL_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # SUBUNIT The L-type calcium channel is composed of five subunits: alpha-1, alpha-2/delta, beta and gamma. {ECO 0000250}. # UCSC uc002tly human # eggNOG ENOG410IE8N Eukaryota # eggNOG ENOG4111WUN LUCA BLAST swissprot:CCGL_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CCGL_HUMAN BioCyc ZFISH:ENSG00000171227-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000171227-MONOMER COXPRESdb 140738 http://coxpresdb.jp/data/gene/140738.shtml CleanEx HS_TMEM37 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_TMEM37 DOI 10.1016/S0378-1119(01)00738-7 http://dx.doi.org/10.1016/S0378-1119(01)00738-7 DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 EMBL AC013275 http://www.ebi.ac.uk/ena/data/view/AC013275 EMBL AF361356 http://www.ebi.ac.uk/ena/data/view/AF361356 Ensembl ENST00000306406 http://www.ensembl.org/id/ENST00000306406 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005244 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005244 GO_function GO:0005262 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005262 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GeneCards TMEM37 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=TMEM37 GeneID 140738 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=140738 GeneTree ENSGT00390000006225 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000006225 H-InvDB HIX0002409 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0002409 HGNC HGNC:18216 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:18216 HOGENOM HOG000111447 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000111447&db=HOGENOM6 HOVERGEN HBG028482 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG028482&db=HOVERGEN HPA HPA053794 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA053794 InParanoid Q8WXS4 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8WXS4 IntAct Q8WXS4 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q8WXS4* InterPro IPR029372 http://www.ebi.ac.uk/interpro/entry/IPR029372 Jabion 140738 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=140738 KEGG_Gene hsa:140738 http://www.genome.jp/dbget-bin/www_bget?hsa:140738 PANTHER PTHR31767:SF0 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR31767:SF0 PSORT swissprot:CCGL_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CCGL_HUMAN PSORT-B swissprot:CCGL_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CCGL_HUMAN PSORT2 swissprot:CCGL_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CCGL_HUMAN Pfam PF15108 http://pfam.xfam.org/family/PF15108 PharmGKB PA134897608 http://www.pharmgkb.org/do/serve?objId=PA134897608&objCls=Gene Phobius swissprot:CCGL_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CCGL_HUMAN PhylomeDB Q8WXS4 http://phylomedb.org/?seqid=Q8WXS4 ProteinModelPortal Q8WXS4 http://www.proteinmodelportal.org/query/uniprot/Q8WXS4 PubMed 11738816 http://www.ncbi.nlm.nih.gov/pubmed/11738816 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 RefSeq NP_899063 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_899063 STRING 9606.ENSP00000303148 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000303148&targetmode=cogs UCSC uc002tly http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002tly&org=rat UniGene Hs.26216 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.26216 UniProtKB CCGL_HUMAN http://www.uniprot.org/uniprot/CCGL_HUMAN UniProtKB-AC Q8WXS4 http://www.uniprot.org/uniprot/Q8WXS4 charge swissprot:CCGL_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CCGL_HUMAN eggNOG ENOG410IE8N http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IE8N eggNOG ENOG4111WUN http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111WUN epestfind swissprot:CCGL_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CCGL_HUMAN garnier swissprot:CCGL_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CCGL_HUMAN helixturnhelix swissprot:CCGL_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CCGL_HUMAN hmoment swissprot:CCGL_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CCGL_HUMAN iep swissprot:CCGL_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CCGL_HUMAN inforesidue swissprot:CCGL_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CCGL_HUMAN neXtProt NX_Q8WXS4 http://www.nextprot.org/db/entry/NX_Q8WXS4 octanol swissprot:CCGL_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CCGL_HUMAN pepcoil swissprot:CCGL_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CCGL_HUMAN pepdigest swissprot:CCGL_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CCGL_HUMAN pepinfo swissprot:CCGL_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CCGL_HUMAN pepnet swissprot:CCGL_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CCGL_HUMAN pepstats swissprot:CCGL_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CCGL_HUMAN pepwheel swissprot:CCGL_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CCGL_HUMAN pepwindow swissprot:CCGL_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CCGL_HUMAN sigcleave swissprot:CCGL_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CCGL_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS GRIK1_HUMAN Event=Alternative splicing; Named isoforms=2; Comment=Additional isoforms seem to exist.; Name=1; Synonyms=GluR5-1D; IsoId=P39086-1; Sequence=Displayed; Name=2; Synonyms=EAA3A; IsoId=P39086-2; Sequence=VSP_000127, VSP_000128; # AltName GRIK1_HUMAN Excitatory amino acid receptor 3 # AltName GRIK1_HUMAN Glutamate receptor 5 # BioGrid 109154 4 # CCDS CCDS33530 -. [P39086-2] # CCDS CCDS42913 -. [P39086-1] # ChiTaRS GRIK1 human # DrugBank DB00273 Topiramate # Ensembl ENST00000389125 ENSP00000373777; ENSG00000171189. [P39086-2] # Ensembl ENST00000399907 ENSP00000382791; ENSG00000171189. [P39086-1] # ExpressionAtlas P39086 baseline and differential # FUNCTION GRIK1_HUMAN Ionotropic glutamate receptor. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. Binding of the excitatory neurotransmitter L- glutamate induces a conformation change, leading to the opening of the cation channel, and thereby converts the chemical signal to an electrical impulse. The receptor then desensitizes rapidly and enters a transient inactive state, characterized by the presence of bound agonist. May be involved in the transmission of light information from the retina to the hypothalamus. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0045211 postsynaptic membrane; IEA:UniProtKB-SubCell. # GO_function GO:0005234 extracellular-glutamate-gated ion channel activity; IEA:InterPro. # GO_function GO:0015276 ligand-gated ion channel activity; TAS:Reactome. # GO_function GO:0015277 kainate selective glutamate receptor activity; IDA:UniProtKB. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0007215 glutamate receptor signaling pathway; TAS:ProtInc. # GO_process GO:0007268 chemical synaptic transmission; TAS:ProtInc. # GO_process GO:0007399 nervous system development; TAS:ProtInc. # GO_process GO:0007417 central nervous system development; TAS:ProtInc. # GO_process GO:0051966 regulation of synaptic transmission, glutamatergic; TAS:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # GOslim_process GO:0048856 anatomical structure development # Genevisible P39086 HS # HGNC HGNC:4579 GRIK1 # InterPro IPR001320 Iontro_rcpt # InterPro IPR001508 Iono_rcpt_met # InterPro IPR001828 ANF_lig-bd_rcpt # InterPro IPR019594 Glu/Gly-bd # InterPro IPR028082 Peripla_BP_I # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04080 Neuroactive ligand-receptor interaction # KEGG_Pathway ko04724 Glutamatergic synapse # MIM 138245 gene # MISCELLANEOUS GRIK1_HUMAN The postsynaptic actions of Glu are mediated by a variety of receptors that are named according to their selective agonists. This receptor binds domoate > kainate > L-glutamate = quisqualate > CNQX = DNQX > AMPA > dihydrokainate > NMDA. # Organism GRIK1_HUMAN Homo sapiens (Human) # PDB 2ZNS X-ray; 2.00 A; A=445-559, A=682-820 # PDB 2ZNT X-ray; 1.60 A; A=445-559, A=682-820 # PDB 2ZNU X-ray; 1.80 A; A=445-559, A=682-820 # PDB 3FUZ X-ray; 1.65 A; A/B=445-559, A/B=682-820 # PDB 3FV1 X-ray; 1.50 A; A/B=445-559, A/B=682-820 # PDB 3FV2 X-ray; 1.50 A; A/B=445-559, A/B=682-820 # PDB 3FVG X-ray; 1.50 A; A/B=445-559, A/B=682-820 # PDB 3FVK X-ray; 1.50 A; A/B=445-559, A/B=682-820 # PDB 3FVN X-ray; 1.50 A; A/B=445-559, A/B=682-820 # PDB 3FVO X-ray; 1.50 A; A/B=445-559, A/B=682-820 # PDB 4MF3 X-ray; 3.00 A; A/B=443-559, A/B=682-822 # PIR I58178 I58178 # PRINTS PR00177 NMDARECEPTOR # Pfam PF00060 Lig_chan # Pfam PF01094 ANF_receptor # Pfam PF10613 Lig_chan-Glu_bd # Proteomes UP000005640 Chromosome 21 # RNA EDITING Modified_positions=636 {ECO:0000269|PubMed 7696618}; Note=Partially edited.; # Reactome R-HSA-451307 Activation of Na-permeable Kainate Receptors # Reactome R-HSA-451308 Activation of Ca-permeable Kainate Receptor # RecName GRIK1_HUMAN Glutamate receptor ionotropic, kainate 1 # RefSeq NP_000821 NM_000830.4. [P39086-1] # RefSeq NP_001307545 NM_001320616.1 # RefSeq NP_001307547 NM_001320618.1 # RefSeq NP_783300 NM_175611.2. [P39086-2] # SIMILARITY Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. GRIK1 subfamily. {ECO 0000305}. # SMART SM00079 PBPe # SMART SM00918 Lig_chan-Glu_bd # SUBCELLULAR LOCATION GRIK1_HUMAN Cell membrane; Multi-pass membrane protein. Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. # SUBUNIT Homotetramer or heterotetramer of pore-forming glutamate receptor subunits. Tetramers may be formed by the dimerization of dimers (Probable). The unedited version (Q) assembles into a functional kainate-gated homomeric channel, whereas the edited version (R) is unable to produce channel activity when expressed alone. Both edited and unedited versions can form functional channels with GRIK4 and GRIK5. Interacts with KLHL17 (By similarity). {ECO:0000250, ECO 0000305}. # SUPFAM SSF53822 SSF53822 # TISSUE SPECIFICITY GRIK1_HUMAN Most abundant in the cerebellum and the suprachiasmatic nuclei (SCN) of the hypothalamus. # UCSC uc002ynn human. [P39086-1] # eggNOG ENOG410XPSH LUCA # eggNOG KOG1054 Eukaryota BLAST swissprot:GRIK1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:GRIK1_HUMAN BioCyc ZFISH:ENSG00000171189-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000171189-MONOMER COXPRESdb 2897 http://coxpresdb.jp/data/gene/2897.shtml CleanEx HS_GRIK1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_GRIK1 DOI 10.1097/00041444-200109000-00005 http://dx.doi.org/10.1097/00041444-200109000-00005 DrugBank DB00273 http://www.drugbank.ca/drugs/DB00273 EMBL AJ249208 http://www.ebi.ac.uk/ena/data/view/AJ249208 EMBL L19058 http://www.ebi.ac.uk/ena/data/view/L19058 EMBL U16125 http://www.ebi.ac.uk/ena/data/view/U16125 Ensembl ENST00000389125 http://www.ensembl.org/id/ENST00000389125 Ensembl ENST00000399907 http://www.ensembl.org/id/ENST00000399907 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0045211 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045211 GO_function GO:0005234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005234 GO_function GO:0015276 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015276 GO_function GO:0015277 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015277 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0007215 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007215 GO_process GO:0007268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007268 GO_process GO:0007399 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007399 GO_process GO:0007417 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007417 GO_process GO:0051966 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051966 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GeneCards GRIK1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=GRIK1 GeneID 2897 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=2897 GeneTree ENSGT00760000118920 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118920 HGNC HGNC:4579 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:4579 HOGENOM HOG000234371 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000234371&db=HOGENOM6 HOVERGEN HBG051839 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG051839&db=HOVERGEN HPA HPA014623 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA014623 InParanoid P39086 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P39086 InterPro IPR001320 http://www.ebi.ac.uk/interpro/entry/IPR001320 InterPro IPR001508 http://www.ebi.ac.uk/interpro/entry/IPR001508 InterPro IPR001828 http://www.ebi.ac.uk/interpro/entry/IPR001828 InterPro IPR019594 http://www.ebi.ac.uk/interpro/entry/IPR019594 InterPro IPR028082 http://www.ebi.ac.uk/interpro/entry/IPR028082 Jabion 2897 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=2897 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:2897 http://www.genome.jp/dbget-bin/www_bget?hsa:2897 KEGG_Orthology KO:K05201 http://www.genome.jp/dbget-bin/www_bget?KO:K05201 KEGG_Pathway ko04080 http://www.genome.jp/kegg-bin/show_pathway?ko04080 KEGG_Pathway ko04724 http://www.genome.jp/kegg-bin/show_pathway?ko04724 MIM 138245 http://www.ncbi.nlm.nih.gov/omim/138245 PDB 2ZNS http://www.ebi.ac.uk/pdbe-srv/view/entry/2ZNS PDB 2ZNT http://www.ebi.ac.uk/pdbe-srv/view/entry/2ZNT PDB 2ZNU http://www.ebi.ac.uk/pdbe-srv/view/entry/2ZNU PDB 3FUZ http://www.ebi.ac.uk/pdbe-srv/view/entry/3FUZ PDB 3FV1 http://www.ebi.ac.uk/pdbe-srv/view/entry/3FV1 PDB 3FV2 http://www.ebi.ac.uk/pdbe-srv/view/entry/3FV2 PDB 3FVG http://www.ebi.ac.uk/pdbe-srv/view/entry/3FVG PDB 3FVK http://www.ebi.ac.uk/pdbe-srv/view/entry/3FVK PDB 3FVN http://www.ebi.ac.uk/pdbe-srv/view/entry/3FVN PDB 3FVO http://www.ebi.ac.uk/pdbe-srv/view/entry/3FVO PDB 4MF3 http://www.ebi.ac.uk/pdbe-srv/view/entry/4MF3 PDBsum 2ZNS http://www.ebi.ac.uk/pdbsum/2ZNS PDBsum 2ZNT http://www.ebi.ac.uk/pdbsum/2ZNT PDBsum 2ZNU http://www.ebi.ac.uk/pdbsum/2ZNU PDBsum 3FUZ http://www.ebi.ac.uk/pdbsum/3FUZ PDBsum 3FV1 http://www.ebi.ac.uk/pdbsum/3FV1 PDBsum 3FV2 http://www.ebi.ac.uk/pdbsum/3FV2 PDBsum 3FVG http://www.ebi.ac.uk/pdbsum/3FVG PDBsum 3FVK http://www.ebi.ac.uk/pdbsum/3FVK PDBsum 3FVN http://www.ebi.ac.uk/pdbsum/3FVN PDBsum 3FVO http://www.ebi.ac.uk/pdbsum/3FVO PDBsum 4MF3 http://www.ebi.ac.uk/pdbsum/4MF3 PRINTS PR00177 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00177 PSORT swissprot:GRIK1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:GRIK1_HUMAN PSORT-B swissprot:GRIK1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:GRIK1_HUMAN PSORT2 swissprot:GRIK1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:GRIK1_HUMAN Pfam PF00060 http://pfam.xfam.org/family/PF00060 Pfam PF01094 http://pfam.xfam.org/family/PF01094 Pfam PF10613 http://pfam.xfam.org/family/PF10613 PharmGKB PA28973 http://www.pharmgkb.org/do/serve?objId=PA28973&objCls=Gene Phobius swissprot:GRIK1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:GRIK1_HUMAN PhylomeDB P39086 http://phylomedb.org/?seqid=P39086 ProteinModelPortal P39086 http://www.proteinmodelportal.org/query/uniprot/P39086 PubMed 11702055 http://www.ncbi.nlm.nih.gov/pubmed/11702055 PubMed 7696618 http://www.ncbi.nlm.nih.gov/pubmed/7696618 PubMed 8260617 http://www.ncbi.nlm.nih.gov/pubmed/8260617 PubMed 8589992 http://www.ncbi.nlm.nih.gov/pubmed/8589992 Reactome R-HSA-451307 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-451307 Reactome R-HSA-451308 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-451308 RefSeq NP_000821 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000821 RefSeq NP_001307545 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001307545 RefSeq NP_001307547 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001307547 RefSeq NP_783300 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_783300 SMART SM00079 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00079 SMART SM00918 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00918 SMR P39086 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P39086 STRING 9606.ENSP00000382791 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000382791&targetmode=cogs SUPFAM SSF53822 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF53822 UCSC uc002ynn http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002ynn&org=rat UniGene Hs.664641 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.664641 UniGene Hs.670516 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.670516 UniProtKB GRIK1_HUMAN http://www.uniprot.org/uniprot/GRIK1_HUMAN UniProtKB-AC P39086 http://www.uniprot.org/uniprot/P39086 charge swissprot:GRIK1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:GRIK1_HUMAN eggNOG ENOG410XPSH http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XPSH eggNOG KOG1054 http://eggnogapi.embl.de/nog_data/html/tree/KOG1054 epestfind swissprot:GRIK1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:GRIK1_HUMAN garnier swissprot:GRIK1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:GRIK1_HUMAN helixturnhelix swissprot:GRIK1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:GRIK1_HUMAN hmoment swissprot:GRIK1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:GRIK1_HUMAN iep swissprot:GRIK1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:GRIK1_HUMAN inforesidue swissprot:GRIK1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:GRIK1_HUMAN neXtProt NX_P39086 http://www.nextprot.org/db/entry/NX_P39086 octanol swissprot:GRIK1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:GRIK1_HUMAN pepcoil swissprot:GRIK1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:GRIK1_HUMAN pepdigest swissprot:GRIK1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:GRIK1_HUMAN pepinfo swissprot:GRIK1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:GRIK1_HUMAN pepnet swissprot:GRIK1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:GRIK1_HUMAN pepstats swissprot:GRIK1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:GRIK1_HUMAN pepwheel swissprot:GRIK1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:GRIK1_HUMAN pepwindow swissprot:GRIK1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:GRIK1_HUMAN sigcleave swissprot:GRIK1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:GRIK1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS MCL1_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=MCL1L, MCL-1L; IsoId=Q07820-1; Sequence=Displayed; Name=2; Synonyms=Delta S, MCL-1S, TM; IsoId=Q07820-2; Sequence=VSP_000532, VSP_000533; # AltName MCL1_HUMAN Bcl-2-like protein 3 # AltName MCL1_HUMAN Bcl-2-related protein EAT/mcl1 # AltName MCL1_HUMAN mcl1/EAT # BioGrid 110338 63 # CCDS CCDS956 -. [Q07820-2] # CCDS CCDS957 -. [Q07820-1] # ChiTaRS MCL1 human # Ensembl ENST00000307940 ENSP00000309973; ENSG00000143384. [Q07820-2] # Ensembl ENST00000369026 ENSP00000358022; ENSG00000143384. [Q07820-1] # ExpressionAtlas Q07820 baseline and differential # FUNCTION MCL1_HUMAN Involved in the regulation of apoptosis versus cell survival, and in the maintenance of viability but not of proliferation. Mediates its effects by interactions with a number of other regulators of apoptosis. Isoform 1 inhibits apoptosis. Isoform 2 promotes apoptosis. {ECO 0000269|PubMed 10766760, ECO 0000269|PubMed 16543145}. # GO_component GO:0005634 nucleus; IDA:MGI. # GO_component GO:0005654 nucleoplasm; IEA:UniProtKB-SubCell. # GO_component GO:0005737 cytoplasm; TAS:UniProtKB. # GO_component GO:0005739 mitochondrion; IDA:MGI. # GO_component GO:0005741 mitochondrial outer membrane; TAS:UniProtKB. # GO_component GO:0005759 mitochondrial matrix; IEA:Ensembl. # GO_component GO:0005829 cytosol; ISS:UniProtKB. # GO_component GO:0016020 membrane; ISS:UniProtKB. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0097136 Bcl-2 family protein complex; IDA:UniProtKB. # GO_function GO:0015266 protein channel activity; TAS:UniProtKB. # GO_function GO:0042803 protein homodimerization activity; IBA:GO_Central. # GO_function GO:0046982 protein heterodimerization activity; IPI:UniProtKB. # GO_function GO:0051434 BH3 domain binding; IPI:BHF-UCL. # GO_process GO:0001709 cell fate determination; NAS:UniProtKB. # GO_process GO:0007275 multicellular organism development; IEA:UniProtKB-KW. # GO_process GO:0008630 intrinsic apoptotic signaling pathway in response to DNA damage; IBA:GO_Central. # GO_process GO:0008637 apoptotic mitochondrial changes; IEA:Ensembl. # GO_process GO:0010507 negative regulation of autophagy; IMP:UniProtKB. # GO_process GO:0019725 cellular homeostasis; NAS:UniProtKB. # GO_process GO:0034097 response to cytokine; IDA:MGI. # GO_process GO:0043066 negative regulation of apoptotic process; IDA:BHF-UCL. # GO_process GO:0097192 extrinsic apoptotic signaling pathway in absence of ligand; IMP:UniProtKB. # GO_process GO:1903378 positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway; IGI:ParkinsonsUK-UCL. # GO_process GO:2000811 negative regulation of anoikis; IMP:UniProtKB. # GO_process GO:2001020 regulation of response to DNA damage stimulus; IMP:MGI. # GO_process GO:2001240 negative regulation of extrinsic apoptotic signaling pathway in absence of ligand; IMP:UniProtKB. # GO_process GO:2001243 negative regulation of intrinsic apoptotic signaling pathway; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005654 nucleoplasm # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005739 mitochondrion # GOslim_component GO:0005829 cytosol # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0008565 protein transporter activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007005 mitochondrion organization # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0048856 anatomical structure development # Genevisible Q07820 HS # HGNC HGNC:6943 MCL1 # INDUCTION MCL1_HUMAN Expression increases early during phorbol ester-induced differentiation along the monocyte/macrophage pathway in myeloid leukemia cell line ML-1. Rapidly up-regulated by CSF2 in ML-1 cells. Up-regulated by heat shock-induced differentiation. Expression increases early during retinoic acid-induced differentiation. {ECO 0000269|PubMed 8790944, ECO 0000269|PubMed 9671497}. # INTERACTION MCL1_HUMAN Q91AU0 - (xeno); NbExp=2; IntAct=EBI-1003422, EBI-9657017; Q16611 BAK1; NbExp=12; IntAct=EBI-1003422, EBI-519866; Q07812 BAX; NbExp=6; IntAct=EBI-1003422, EBI-516580; Q9BXH1 BBC3; NbExp=3; IntAct=EBI-1003422, EBI-519884; O43521 BCL2L11; NbExp=15; IntAct=EBI-1003422, EBI-526406; Q14457 BECN1; NbExp=2; IntAct=EBI-1003422, EBI-949378; Q7L3V2 BOP; NbExp=2; IntAct=EBI-1003422, EBI-10697720; Q03135 CAV1; NbExp=3; IntAct=EBI-1003422, EBI-603614; P49817 Cav1 (xeno); NbExp=3; IntAct=EBI-1003422, EBI-1161338; Q13794 PMAIP1; NbExp=5; IntAct=EBI-1003422, EBI-707392; Q9JM54 Pmaip1 (xeno); NbExp=2; IntAct=EBI-1003422, EBI-709183; # IntAct Q07820 28 # InterPro IPR002475 Bcl2-like # InterPro IPR013281 Apop_reg_Mc1 # InterPro IPR020717 Bcl2_BH1_motif_CS # InterPro IPR020726 Bcl2_BH2_motif_CS # InterPro IPR020728 Bcl2_BH3_motif_CS # InterPro IPR026298 Blc2_fam # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Pathway ko04151 PI3K-Akt signaling pathway # MIM 159552 gene # Organism MCL1_HUMAN Homo sapiens (Human) # PANTHER PTHR11256 PTHR11256 # PDB 2KBW NMR; -; A=163-326 # PDB 2MHS NMR; -; A=171-327 # PDB 2NL9 X-ray; 1.55 A; A=209-327 # PDB 2NLA X-ray; 2.80 A; A=209-327 # PDB 2PQK X-ray; 2.00 A; A=172-327 # PDB 3D7V X-ray; 2.03 A; A=209-327 # PDB 3IO9 X-ray; 2.40 A; A=209-327 # PDB 3KJ0 X-ray; 1.70 A; A=172-327 # PDB 3KJ1 X-ray; 1.94 A; A=172-327 # PDB 3KJ2 X-ray; 2.35 A; A=172-327 # PDB 3KZ0 X-ray; 2.35 A; A/B=172-327 # PDB 3MK8 X-ray; 2.32 A; A=172-327, B=208-228 # PDB 3PK1 X-ray; 2.49 A; A/C=174-326 # PDB 3TWU X-ray; 1.80 A; B=73-88 # PDB 3WIX X-ray; 1.90 A; A/B/C/D=172-327 # PDB 3WIY X-ray; 2.15 A; A/B/C/D/E/F=172-327 # PDB 4BPI X-ray; 1.98 A; A=209-327 # PDB 4BPJ X-ray; 1.60 A; A=209-327 # PDB 4HW2 X-ray; 2.80 A; A/B/C/D/E/F=172-323 # PDB 4HW3 X-ray; 2.40 A; A/B/C/D/E/F/G/H/I/J/K/L=172-323 # PDB 4HW4 X-ray; 1.53 A; A/B=172-327 # PDB 4OQ5 X-ray; 2.86 A; A/B/C/D/E/F=174-326 # PDB 4OQ6 X-ray; 1.81 A; A/B=174-326 # PDB 4WGI X-ray; 1.85 A; A=173-321 # PDB 4WMR X-ray; 1.70 A; A=173-321 # PDB 4WMS X-ray; 1.90 A; A=174-321 # PDB 4WMT X-ray; 2.35 A; A=174-321 # PDB 4WMU X-ray; 1.55 A; A=174-321 # PDB 4WMV X-ray; 2.40 A; A=174-321 # PDB 4WMW X-ray; 1.90 A; A=174-321 # PDB 4WMX X-ray; 2.00 A; A=174-321 # PDB 4ZBF X-ray; 2.20 A; A/B/C/D/E/F/G/H/I/J/K/L=172-327 # PDB 4ZBI X-ray; 2.50 A; A/B/C/D/E/F/G/H/I/J/K/L=172-327 # PDB 5C3F X-ray; 1.43 A; A=173-327 # PDB 5C6H X-ray; 2.05 A; A/C/E/G/I/K/M/O/Q/S/U/W=171-327 # PDB 5FC4 X-ray; 1.50 A; A=172-320 # PDB 5FDO X-ray; 2.80 A; A/B/C/D=172-320 # PDB 5FDR X-ray; 2.60 A; A/B/C/D=172-327 # PIR A47476 A47476 # PRINTS PR01862 BCL2FAMILY # PRINTS PR01866 APOPREGMCL1 # PROSITE PS01080 BH1 # PROSITE PS01258 BH2 # PROSITE PS01259 BH3 # PROSITE PS50062 BCL2_FAMILY # PTM MCL1_HUMAN Cleaved by CASP3 during apoptosis. In intact cells cleavage occurs preferentially after Asp-127, yielding a pro-apoptotic 28 kDa C-terminal fragment. # PTM MCL1_HUMAN Phosphorylated on Ser-159, by GSK3, in response to IL3/interleukin-3 withdrawal. Phosphorylation at Ser-159 induces ubiquitination and proteasomal degradation, abrogating the anti- apoptotic activity. Treatment with taxol or okadaic acid induces phosphorylation on additional sites. {ECO 0000269|PubMed 16543145}. # PTM MCL1_HUMAN Rapidly degraded in the absence of phosphorylation on Thr-163 in the PEST region. {ECO 0000269|PubMed 12223490, ECO 0000269|PubMed 15241487, ECO 0000269|PubMed 23024798}. # PTM MCL1_HUMAN Ubiquitinated. Ubiquitination is induced by phosphorylation at Ser-159. {ECO 0000269|PubMed 16543145}. # Pfam PF00452 Bcl-2 # Proteomes UP000005640 Chromosome 1 # RecName MCL1_HUMAN Induced myeloid leukemia cell differentiation protein Mcl-1 # RefSeq NP_001184249 NM_001197320.1 # RefSeq NP_068779 NM_021960.4. [Q07820-1] # RefSeq NP_877495 NM_182763.2. [Q07820-2] # SIMILARITY Belongs to the Bcl-2 family. {ECO 0000305}. # SUBCELLULAR LOCATION MCL1_HUMAN Membrane {ECO 0000305}; Single-pass membrane protein {ECO 0000305}. Cytoplasm. Mitochondrion. Nucleus, nucleoplasm. Note=Cytoplasmic, associated with mitochondria. # SUBUNIT MCL1_HUMAN Interacts with HIF3A (via C-terminus domain) (By similarity). Interacts with BAD, BOK, BIK and BMF (By similarity). Interacts with PMAIP1 (PubMed 17389404). Interacts with BBC3 (By similarity). Isoform 1 interacts with BAX, BAK1 and TPT1 (PubMed 10837489, PubMed 12149273, PubMed 15077116). Heterodimer of isoform 1 and isoform 2. Homodimers of isoform 1 or isoform 2 are not detected. Isoform 2 does not interact with pro-apoptotic BCL2-related proteins (PubMed 10837489). Interacts with BOP (PubMed 23055042). Interacts with BCL2L11; may sequester BCL2L11 to prevent its pro-apoptotic activity (PubMed 10837489, PubMed 27013495, PubMed 17389404, PubMed 20562877). {ECO 0000250|UniProtKB P97287, ECO 0000250|UniProtKB Q9Z1P3, ECO 0000269|PubMed 10837489, ECO 0000269|PubMed 12149273, ECO 0000269|PubMed 15077116, ECO 0000269|PubMed 17389404, ECO 0000269|PubMed 20562877, ECO 0000269|PubMed 23055042, ECO 0000269|PubMed 27013495}. # UCSC uc001euz human. [Q07820-1] # WEB RESOURCE MCL1_HUMAN Name=NIEHS-SNPs; URL="http //egp.gs.washington.edu/data/mcl1/"; # eggNOG ENOG41123S0 LUCA # eggNOG KOG4728 Eukaryota BLAST swissprot:MCL1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:MCL1_HUMAN BioCyc ZFISH:ENSG00000143384-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000143384-MONOMER COXPRESdb 4170 http://coxpresdb.jp/data/gene/4170.shtml CleanEx HS_MCL1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_MCL1 DIP DIP-231N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-231N DOI 10.1007/PL00000728 http://dx.doi.org/10.1007/PL00000728 DOI 10.1007/s13238-012-2069-7 http://dx.doi.org/10.1007/s13238-012-2069-7 DOI 10.1016/S0145-2126(99)00137-X http://dx.doi.org/10.1016/S0145-2126(99)00137-X DOI 10.1016/j.cell.2005.06.009 http://dx.doi.org/10.1016/j.cell.2005.06.009 DOI 10.1016/j.molcel.2006.02.009 http://dx.doi.org/10.1016/j.molcel.2006.02.009 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1038/nature07485 http://dx.doi.org/10.1038/nature07485 DOI 10.1038/ncb1123 http://dx.doi.org/10.1038/ncb1123 DOI 10.1038/nchembio.391 http://dx.doi.org/10.1038/nchembio.391 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1038/sj.onc.1207648 http://dx.doi.org/10.1038/sj.onc.1207648 DOI 10.1038/sj.onc.1207692 http://dx.doi.org/10.1038/sj.onc.1207692 DOI 10.1073/pnas.0701297104 http://dx.doi.org/10.1073/pnas.0701297104 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1073/pnas.90.8.3516 http://dx.doi.org/10.1073/pnas.90.8.3516 DOI 10.1074/jbc.M207413200 http://dx.doi.org/10.1074/jbc.M207413200 DOI 10.1074/jbc.M207951200 http://dx.doi.org/10.1074/jbc.M207951200 DOI 10.1074/jbc.M909572199 http://dx.doi.org/10.1074/jbc.M909572199 DOI 10.1074/jbc.M909826199 http://dx.doi.org/10.1074/jbc.M909826199 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1128/MCB.18.8.4883 http://dx.doi.org/10.1128/MCB.18.8.4883 DOI 10.1371/journal.pone.0045088 http://dx.doi.org/10.1371/journal.pone.0045088 DOI 10.15252/embr.201541392 http://dx.doi.org/10.15252/embr.201541392 EMBL AF118124 http://www.ebi.ac.uk/ena/data/view/AF118124 EMBL AF118276 http://www.ebi.ac.uk/ena/data/view/AF118276 EMBL AF118277 http://www.ebi.ac.uk/ena/data/view/AF118277 EMBL AF118278 http://www.ebi.ac.uk/ena/data/view/AF118278 EMBL AF147742 http://www.ebi.ac.uk/ena/data/view/AF147742 EMBL AF162676 http://www.ebi.ac.uk/ena/data/view/AF162676 EMBL AF162677 http://www.ebi.ac.uk/ena/data/view/AF162677 EMBL AF198614 http://www.ebi.ac.uk/ena/data/view/AF198614 EMBL AF198614 http://www.ebi.ac.uk/ena/data/view/AF198614 EMBL AF203373 http://www.ebi.ac.uk/ena/data/view/AF203373 EMBL AK312508 http://www.ebi.ac.uk/ena/data/view/AK312508 EMBL AL356356 http://www.ebi.ac.uk/ena/data/view/AL356356 EMBL AL356356 http://www.ebi.ac.uk/ena/data/view/AL356356 EMBL BC017197 http://www.ebi.ac.uk/ena/data/view/BC017197 EMBL BC071897 http://www.ebi.ac.uk/ena/data/view/BC071897 EMBL BC107735 http://www.ebi.ac.uk/ena/data/view/BC107735 EMBL BT006640 http://www.ebi.ac.uk/ena/data/view/BT006640 EMBL CH471121 http://www.ebi.ac.uk/ena/data/view/CH471121 EMBL CH471121 http://www.ebi.ac.uk/ena/data/view/CH471121 EMBL CH471121 http://www.ebi.ac.uk/ena/data/view/CH471121 EMBL CH471121 http://www.ebi.ac.uk/ena/data/view/CH471121 EMBL DQ088966 http://www.ebi.ac.uk/ena/data/view/DQ088966 EMBL L08246 http://www.ebi.ac.uk/ena/data/view/L08246 Ensembl ENST00000307940 http://www.ensembl.org/id/ENST00000307940 Ensembl ENST00000369026 http://www.ensembl.org/id/ENST00000369026 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005741 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005741 GO_component GO:0005759 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005759 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0097136 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097136 GO_function GO:0015266 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015266 GO_function GO:0042803 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042803 GO_function GO:0046982 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046982 GO_function GO:0051434 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051434 GO_process GO:0001709 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001709 GO_process GO:0007275 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007275 GO_process GO:0008630 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008630 GO_process GO:0008637 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008637 GO_process GO:0010507 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010507 GO_process GO:0019725 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019725 GO_process GO:0034097 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034097 GO_process GO:0043066 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043066 GO_process GO:0097192 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097192 GO_process GO:1903378 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903378 GO_process GO:2000811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000811 GO_process GO:2001020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2001020 GO_process GO:2001240 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2001240 GO_process GO:2001243 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2001243 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007005 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007005 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GeneCards MCL1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=MCL1 GeneID 4170 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=4170 GeneTree ENSGT00510000048923 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00510000048923 HGNC HGNC:6943 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6943 HOVERGEN HBG003527 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG003527&db=HOVERGEN HPA CAB002781 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB002781 HPA CAB068195 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB068195 HPA HPA008455 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA008455 HPA HPA031125 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA031125 InParanoid Q07820 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q07820 IntAct Q07820 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q07820* InterPro IPR002475 http://www.ebi.ac.uk/interpro/entry/IPR002475 InterPro IPR013281 http://www.ebi.ac.uk/interpro/entry/IPR013281 InterPro IPR020717 http://www.ebi.ac.uk/interpro/entry/IPR020717 InterPro IPR020726 http://www.ebi.ac.uk/interpro/entry/IPR020726 InterPro IPR020728 http://www.ebi.ac.uk/interpro/entry/IPR020728 InterPro IPR026298 http://www.ebi.ac.uk/interpro/entry/IPR026298 Jabion 4170 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=4170 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Gene hsa:4170 http://www.genome.jp/dbget-bin/www_bget?hsa:4170 KEGG_Orthology KO:K02539 http://www.genome.jp/dbget-bin/www_bget?KO:K02539 KEGG_Pathway ko04151 http://www.genome.jp/kegg-bin/show_pathway?ko04151 MIM 159552 http://www.ncbi.nlm.nih.gov/omim/159552 MINT MINT-89669 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-89669 OMA AKDTKPM http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=AKDTKPM OrthoDB EOG091G0E6Q http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0E6Q PANTHER PTHR11256 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11256 PDB 2KBW http://www.ebi.ac.uk/pdbe-srv/view/entry/2KBW PDB 2MHS http://www.ebi.ac.uk/pdbe-srv/view/entry/2MHS PDB 2NL9 http://www.ebi.ac.uk/pdbe-srv/view/entry/2NL9 PDB 2NLA http://www.ebi.ac.uk/pdbe-srv/view/entry/2NLA PDB 2PQK http://www.ebi.ac.uk/pdbe-srv/view/entry/2PQK PDB 3D7V http://www.ebi.ac.uk/pdbe-srv/view/entry/3D7V PDB 3IO9 http://www.ebi.ac.uk/pdbe-srv/view/entry/3IO9 PDB 3KJ0 http://www.ebi.ac.uk/pdbe-srv/view/entry/3KJ0 PDB 3KJ1 http://www.ebi.ac.uk/pdbe-srv/view/entry/3KJ1 PDB 3KJ2 http://www.ebi.ac.uk/pdbe-srv/view/entry/3KJ2 PDB 3KZ0 http://www.ebi.ac.uk/pdbe-srv/view/entry/3KZ0 PDB 3MK8 http://www.ebi.ac.uk/pdbe-srv/view/entry/3MK8 PDB 3PK1 http://www.ebi.ac.uk/pdbe-srv/view/entry/3PK1 PDB 3TWU http://www.ebi.ac.uk/pdbe-srv/view/entry/3TWU PDB 3WIX http://www.ebi.ac.uk/pdbe-srv/view/entry/3WIX PDB 3WIY http://www.ebi.ac.uk/pdbe-srv/view/entry/3WIY PDB 4BPI http://www.ebi.ac.uk/pdbe-srv/view/entry/4BPI PDB 4BPJ http://www.ebi.ac.uk/pdbe-srv/view/entry/4BPJ PDB 4HW2 http://www.ebi.ac.uk/pdbe-srv/view/entry/4HW2 PDB 4HW3 http://www.ebi.ac.uk/pdbe-srv/view/entry/4HW3 PDB 4HW4 http://www.ebi.ac.uk/pdbe-srv/view/entry/4HW4 PDB 4OQ5 http://www.ebi.ac.uk/pdbe-srv/view/entry/4OQ5 PDB 4OQ6 http://www.ebi.ac.uk/pdbe-srv/view/entry/4OQ6 PDB 4WGI http://www.ebi.ac.uk/pdbe-srv/view/entry/4WGI PDB 4WMR http://www.ebi.ac.uk/pdbe-srv/view/entry/4WMR PDB 4WMS http://www.ebi.ac.uk/pdbe-srv/view/entry/4WMS PDB 4WMT http://www.ebi.ac.uk/pdbe-srv/view/entry/4WMT PDB 4WMU http://www.ebi.ac.uk/pdbe-srv/view/entry/4WMU PDB 4WMV http://www.ebi.ac.uk/pdbe-srv/view/entry/4WMV PDB 4WMW http://www.ebi.ac.uk/pdbe-srv/view/entry/4WMW PDB 4WMX http://www.ebi.ac.uk/pdbe-srv/view/entry/4WMX PDB 4ZBF http://www.ebi.ac.uk/pdbe-srv/view/entry/4ZBF PDB 4ZBI http://www.ebi.ac.uk/pdbe-srv/view/entry/4ZBI PDB 5C3F http://www.ebi.ac.uk/pdbe-srv/view/entry/5C3F PDB 5C6H http://www.ebi.ac.uk/pdbe-srv/view/entry/5C6H PDB 5FC4 http://www.ebi.ac.uk/pdbe-srv/view/entry/5FC4 PDB 5FDO http://www.ebi.ac.uk/pdbe-srv/view/entry/5FDO PDB 5FDR http://www.ebi.ac.uk/pdbe-srv/view/entry/5FDR PDBsum 2KBW http://www.ebi.ac.uk/pdbsum/2KBW PDBsum 2MHS http://www.ebi.ac.uk/pdbsum/2MHS PDBsum 2NL9 http://www.ebi.ac.uk/pdbsum/2NL9 PDBsum 2NLA http://www.ebi.ac.uk/pdbsum/2NLA PDBsum 2PQK http://www.ebi.ac.uk/pdbsum/2PQK PDBsum 3D7V http://www.ebi.ac.uk/pdbsum/3D7V PDBsum 3IO9 http://www.ebi.ac.uk/pdbsum/3IO9 PDBsum 3KJ0 http://www.ebi.ac.uk/pdbsum/3KJ0 PDBsum 3KJ1 http://www.ebi.ac.uk/pdbsum/3KJ1 PDBsum 3KJ2 http://www.ebi.ac.uk/pdbsum/3KJ2 PDBsum 3KZ0 http://www.ebi.ac.uk/pdbsum/3KZ0 PDBsum 3MK8 http://www.ebi.ac.uk/pdbsum/3MK8 PDBsum 3PK1 http://www.ebi.ac.uk/pdbsum/3PK1 PDBsum 3TWU http://www.ebi.ac.uk/pdbsum/3TWU PDBsum 3WIX http://www.ebi.ac.uk/pdbsum/3WIX PDBsum 3WIY http://www.ebi.ac.uk/pdbsum/3WIY PDBsum 4BPI http://www.ebi.ac.uk/pdbsum/4BPI PDBsum 4BPJ http://www.ebi.ac.uk/pdbsum/4BPJ PDBsum 4HW2 http://www.ebi.ac.uk/pdbsum/4HW2 PDBsum 4HW3 http://www.ebi.ac.uk/pdbsum/4HW3 PDBsum 4HW4 http://www.ebi.ac.uk/pdbsum/4HW4 PDBsum 4OQ5 http://www.ebi.ac.uk/pdbsum/4OQ5 PDBsum 4OQ6 http://www.ebi.ac.uk/pdbsum/4OQ6 PDBsum 4WGI http://www.ebi.ac.uk/pdbsum/4WGI PDBsum 4WMR http://www.ebi.ac.uk/pdbsum/4WMR PDBsum 4WMS http://www.ebi.ac.uk/pdbsum/4WMS PDBsum 4WMT http://www.ebi.ac.uk/pdbsum/4WMT PDBsum 4WMU http://www.ebi.ac.uk/pdbsum/4WMU PDBsum 4WMV http://www.ebi.ac.uk/pdbsum/4WMV PDBsum 4WMW http://www.ebi.ac.uk/pdbsum/4WMW PDBsum 4WMX http://www.ebi.ac.uk/pdbsum/4WMX PDBsum 4ZBF http://www.ebi.ac.uk/pdbsum/4ZBF PDBsum 4ZBI http://www.ebi.ac.uk/pdbsum/4ZBI PDBsum 5C3F http://www.ebi.ac.uk/pdbsum/5C3F PDBsum 5C6H http://www.ebi.ac.uk/pdbsum/5C6H PDBsum 5FC4 http://www.ebi.ac.uk/pdbsum/5FC4 PDBsum 5FDO http://www.ebi.ac.uk/pdbsum/5FDO PDBsum 5FDR http://www.ebi.ac.uk/pdbsum/5FDR PRINTS PR01862 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01862 PRINTS PR01866 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01866 PROSITE PS01080 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS01080 PROSITE PS01258 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS01258 PROSITE PS01259 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS01259 PROSITE PS50062 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50062 PSORT swissprot:MCL1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:MCL1_HUMAN PSORT-B swissprot:MCL1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:MCL1_HUMAN PSORT2 swissprot:MCL1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:MCL1_HUMAN Pfam PF00452 http://pfam.xfam.org/family/PF00452 PharmGKB PA30688 http://www.pharmgkb.org/do/serve?objId=PA30688&objCls=Gene Phobius swissprot:MCL1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:MCL1_HUMAN PhylomeDB Q07820 http://phylomedb.org/?seqid=Q07820 ProteinModelPortal Q07820 http://www.proteinmodelportal.org/query/uniprot/Q07820 PubMed 10634649 http://www.ncbi.nlm.nih.gov/pubmed/10634649 PubMed 10766760 http://www.ncbi.nlm.nih.gov/pubmed/10766760 PubMed 10837489 http://www.ncbi.nlm.nih.gov/pubmed/10837489 PubMed 11130466 http://www.ncbi.nlm.nih.gov/pubmed/11130466 PubMed 12149273 http://www.ncbi.nlm.nih.gov/pubmed/12149273 PubMed 12223490 http://www.ncbi.nlm.nih.gov/pubmed/12223490 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15077116 http://www.ncbi.nlm.nih.gov/pubmed/15077116 PubMed 15122313 http://www.ncbi.nlm.nih.gov/pubmed/15122313 PubMed 15241487 http://www.ncbi.nlm.nih.gov/pubmed/15241487 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15989957 http://www.ncbi.nlm.nih.gov/pubmed/15989957 PubMed 16543145 http://www.ncbi.nlm.nih.gov/pubmed/16543145 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 17389404 http://www.ncbi.nlm.nih.gov/pubmed/17389404 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 18987736 http://www.ncbi.nlm.nih.gov/pubmed/18987736 PubMed 20562877 http://www.ncbi.nlm.nih.gov/pubmed/20562877 PubMed 23024798 http://www.ncbi.nlm.nih.gov/pubmed/23024798 PubMed 23055042 http://www.ncbi.nlm.nih.gov/pubmed/23055042 PubMed 27013495 http://www.ncbi.nlm.nih.gov/pubmed/27013495 PubMed 7682708 http://www.ncbi.nlm.nih.gov/pubmed/7682708 PubMed 8790944 http://www.ncbi.nlm.nih.gov/pubmed/8790944 PubMed 9671497 http://www.ncbi.nlm.nih.gov/pubmed/9671497 RefSeq NP_001184249 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001184249 RefSeq NP_068779 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_068779 RefSeq NP_877495 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_877495 SMR Q07820 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q07820 STRING 9606.ENSP00000358022 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000358022&targetmode=cogs UCSC uc001euz http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001euz&org=rat UniGene Hs.632486 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.632486 UniProtKB MCL1_HUMAN http://www.uniprot.org/uniprot/MCL1_HUMAN UniProtKB-AC Q07820 http://www.uniprot.org/uniprot/Q07820 charge swissprot:MCL1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:MCL1_HUMAN eggNOG ENOG41123S0 http://eggnogapi.embl.de/nog_data/html/tree/ENOG41123S0 eggNOG KOG4728 http://eggnogapi.embl.de/nog_data/html/tree/KOG4728 epestfind swissprot:MCL1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:MCL1_HUMAN garnier swissprot:MCL1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:MCL1_HUMAN helixturnhelix swissprot:MCL1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:MCL1_HUMAN hmoment swissprot:MCL1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:MCL1_HUMAN iep swissprot:MCL1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:MCL1_HUMAN inforesidue swissprot:MCL1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:MCL1_HUMAN neXtProt NX_Q07820 http://www.nextprot.org/db/entry/NX_Q07820 octanol swissprot:MCL1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:MCL1_HUMAN pepcoil swissprot:MCL1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:MCL1_HUMAN pepdigest swissprot:MCL1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:MCL1_HUMAN pepinfo swissprot:MCL1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:MCL1_HUMAN pepnet swissprot:MCL1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:MCL1_HUMAN pepstats swissprot:MCL1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:MCL1_HUMAN pepwheel swissprot:MCL1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:MCL1_HUMAN pepwindow swissprot:MCL1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:MCL1_HUMAN sigcleave swissprot:MCL1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:MCL1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS SO3A1_HUMAN Event=Alternative splicing; Named isoforms=4; Name=1; Synonyms=OATP3A1-v1; IsoId=Q9UIG8-1; Sequence=Displayed; Name=2; Synonyms=OATP3A1-v2; IsoId=Q9UIG8-2; Sequence=VSP_036837, VSP_036838; Name=3; IsoId=Q9UIG8-3; Sequence=VSP_036834, VSP_036835, VSP_036836; Note=No experimental confirmation available.; Name=4; IsoId=Q9UIG8-4; Sequence=VSP_036833; Note=No experimental confirmation available.; # AltName SO3A1_HUMAN Organic anion transporter polypeptide-related protein 3 # AltName SO3A1_HUMAN Organic anion-transporting polypeptide D # AltName SO3A1_HUMAN PGE1 transporter # AltName SO3A1_HUMAN Sodium-independent organic anion transporter D # AltName SO3A1_HUMAN Solute carrier family 21 member 11 # BIOPHYSICOCHEMICAL PROPERTIES SO3A1_HUMAN Kinetic parameters KM=101 nM for PGE1 (isoform 1) {ECO 0000269|PubMed 16971491}; KM=218 nM for PGE1 (isoform 2) {ECO 0000269|PubMed 16971491}; KM=219 nM for PGE2 (isoform 1) {ECO 0000269|PubMed 16971491}; KM=371 nM for PGE2 (isoform 2) {ECO 0000269|PubMed 16971491}; # CCDS CCDS10371 -. [Q9UIG8-1] # CCDS CCDS45354 -. [Q9UIG8-2] # CDD cd06174 MFS # ChiTaRS SLCO3A1 human # DrugBank DB00286 Conjugated Estrogens # DrugBank DB00345 Aminohippurate # DrugBank DB00563 Methotrexate # DrugBank DB00770 Alprostadil # DrugBank DB00917 Dinoprostone # DrugBank DB01053 Benzylpenicillin # DrugBank DB01088 Iloprost # DrugBank DB01160 Dinoprost Tromethamine # Ensembl ENST00000318445 ENSP00000320634; ENSG00000176463. [Q9UIG8-1] # Ensembl ENST00000424469 ENSP00000387846; ENSG00000176463. [Q9UIG8-2] # ExpressionAtlas Q9UIG8 baseline and differential # FUNCTION SO3A1_HUMAN Mediates the Na(+)-independent transport of organic anions such as estrone-3-sulfate (PubMed 10873595). Mediates transport of prostaglandins (PG) E1 and E2, thyroxine (T4), deltorphin II, BQ-123 and vasopressin, but not DPDPE (a derivative of enkephalin lacking an N-terminal tyrosine residue), estrone-3- sulfate, taurocholate, digoxin nor DHEAS (PubMed 16971491). {ECO 0000269|PubMed 10873595, ECO 0000269|PubMed 16971491}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_function GO:0015347 sodium-independent organic anion transmembrane transporter activity; IBA:GO_Central. # GO_process GO:0015732 prostaglandin transport; IBA:GO_Central. # GO_process GO:0043252 sodium-independent organic anion transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # Genevisible Q9UIG8 HS # HGNC HGNC:10952 SLCO3A1 # InterPro IPR002350 Kazal_dom # InterPro IPR004156 OA_transporter # InterPro IPR020846 MFS_dom # KEGG_Brite ko02001 Solute carrier family # MIM 612435 gene # Organism SO3A1_HUMAN Homo sapiens (Human) # PANTHER PTHR11388 PTHR11388 # PROSITE PS51465 KAZAL_2 # Pfam PF03137 OATP # Pfam PF07648 Kazal_2 # Proteomes UP000005640 Chromosome 15 # Reactome R-HSA-879518 Transport of organic anions # RecName SO3A1_HUMAN Solute carrier organic anion transporter family member 3A1 # RefSeq NP_001138516 NM_001145044.1. [Q9UIG8-2] # RefSeq NP_037404 NM_013272.3. [Q9UIG8-1] # SIMILARITY Belongs to the organo anion transporter (TC 2.A.60) family. {ECO 0000305}. # SIMILARITY Contains 1 Kazal-like domain. {ECO:0000255|PROSITE- ProRule PRU00798}. # SUBCELLULAR LOCATION SO3A1_HUMAN Cell membrane; Multi-pass membrane protein. # SUPFAM SSF103473 SSF103473; 4 # TCDB 2.A.60.1.18 the organo anion transporter (oat) family # TIGRFAMs TIGR00805 oat # TISSUE SPECIFICITY Ubiquitous. Highly expressed in spleen and leukocytes. Generally the expression of isoform 1 is higher than that of isoform 2. Isoform 2 is particularly abundant in testis and brain. In testis, isoform 1 is detected in spermatogonia at different stages and absent from Sertoli cells, while isoform 2 is present in both (at protein level). Expressed in the choroid plexus epithelium, isoform 1 being localized at the basolateral membrane and isoform 2 at the apical one, as well as in the subapical intracellular vesicular compartments. Differential expression of both isoforms is also observed in other brain region: isoform 1 is very abundant in the gray matter of the frontal cortex, but is not associated with neuronal cell bodies. Not detected in the white matter. In contrast, isoform 2 is associated with neuronal bodies and axons in both the gray and the white matters of the frontal cortex. {ECO 0000269|PubMed:16971491}. # UCSC uc002bqx human. [Q9UIG8-1] # eggNOG ENOG410XRSF LUCA # eggNOG KOG3626 Eukaryota BLAST swissprot:SO3A1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SO3A1_HUMAN BioCyc ZFISH:ENSG00000176463-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000176463-MONOMER COXPRESdb 28232 http://coxpresdb.jp/data/gene/28232.shtml CleanEx HS_SLCO3A1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLCO3A1 DOI 10.1006/bbrc.2000.2922 http://dx.doi.org/10.1006/bbrc.2000.2922 DOI 10.1038/nature04601 http://dx.doi.org/10.1038/nature04601 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.1210303109 http://dx.doi.org/10.1073/pnas.1210303109 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1152/ajpcell.00597.2005 http://dx.doi.org/10.1152/ajpcell.00597.2005 DrugBank DB00286 http://www.drugbank.ca/drugs/DB00286 DrugBank DB00345 http://www.drugbank.ca/drugs/DB00345 DrugBank DB00563 http://www.drugbank.ca/drugs/DB00563 DrugBank DB00770 http://www.drugbank.ca/drugs/DB00770 DrugBank DB00917 http://www.drugbank.ca/drugs/DB00917 DrugBank DB01053 http://www.drugbank.ca/drugs/DB01053 DrugBank DB01088 http://www.drugbank.ca/drugs/DB01088 DrugBank DB01160 http://www.drugbank.ca/drugs/DB01160 EMBL AB031050 http://www.ebi.ac.uk/ena/data/view/AB031050 EMBL AC104020 http://www.ebi.ac.uk/ena/data/view/AC104020 EMBL AC104236 http://www.ebi.ac.uk/ena/data/view/AC104236 EMBL AC113190 http://www.ebi.ac.uk/ena/data/view/AC113190 EMBL AC116903 http://www.ebi.ac.uk/ena/data/view/AC116903 EMBL AC135996 http://www.ebi.ac.uk/ena/data/view/AC135996 EMBL AF187816 http://www.ebi.ac.uk/ena/data/view/AF187816 EMBL AF205074 http://www.ebi.ac.uk/ena/data/view/AF205074 EMBL AK057031 http://www.ebi.ac.uk/ena/data/view/AK057031 EMBL AK097797 http://www.ebi.ac.uk/ena/data/view/AK097797 EMBL AK290872 http://www.ebi.ac.uk/ena/data/view/AK290872 EMBL BC000585 http://www.ebi.ac.uk/ena/data/view/BC000585 EMBL FJ515841 http://www.ebi.ac.uk/ena/data/view/FJ515841 Ensembl ENST00000318445 http://www.ensembl.org/id/ENST00000318445 Ensembl ENST00000424469 http://www.ensembl.org/id/ENST00000424469 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0015347 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015347 GO_process GO:0015732 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015732 GO_process GO:0043252 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043252 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GeneCards SLCO3A1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLCO3A1 GeneID 28232 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=28232 GeneTree ENSGT00760000119014 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119014 H-InvDB HIX0018979 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0018979 HGNC HGNC:10952 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10952 HOVERGEN HBG098539 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG098539&db=HOVERGEN InParanoid Q9UIG8 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9UIG8 IntAct Q9UIG8 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9UIG8* InterPro IPR002350 http://www.ebi.ac.uk/interpro/entry/IPR002350 InterPro IPR004156 http://www.ebi.ac.uk/interpro/entry/IPR004156 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 28232 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=28232 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:28232 http://www.genome.jp/dbget-bin/www_bget?hsa:28232 KEGG_Orthology KO:K14353 http://www.genome.jp/dbget-bin/www_bget?KO:K14353 MIM 612435 http://www.ncbi.nlm.nih.gov/omim/612435 OMA LKSSAFV http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=LKSSAFV OrthoDB EOG091G03A9 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G03A9 PANTHER PTHR11388 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11388 PROSITE PS51465 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51465 PSORT swissprot:SO3A1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SO3A1_HUMAN PSORT-B swissprot:SO3A1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SO3A1_HUMAN PSORT2 swissprot:SO3A1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SO3A1_HUMAN Pfam PF03137 http://pfam.xfam.org/family/PF03137 Pfam PF07648 http://pfam.xfam.org/family/PF07648 PharmGKB PA35837 http://www.pharmgkb.org/do/serve?objId=PA35837&objCls=Gene Phobius swissprot:SO3A1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SO3A1_HUMAN PhylomeDB Q9UIG8 http://phylomedb.org/?seqid=Q9UIG8 ProteinModelPortal Q9UIG8 http://www.proteinmodelportal.org/query/uniprot/Q9UIG8 PubMed 10873595 http://www.ncbi.nlm.nih.gov/pubmed/10873595 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16572171 http://www.ncbi.nlm.nih.gov/pubmed/16572171 PubMed 16971491 http://www.ncbi.nlm.nih.gov/pubmed/16971491 PubMed 22814378 http://www.ncbi.nlm.nih.gov/pubmed/22814378 Reactome R-HSA-879518 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-879518 RefSeq NP_001138516 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001138516 RefSeq NP_037404 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_037404 STRING 9606.ENSP00000320634 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000320634&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.60.1.18 http://www.tcdb.org/search/result.php?tc=2.A.60.1.18 TIGRFAMs TIGR00805 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00805 UCSC uc002bqx http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002bqx&org=rat UniGene Hs.311187 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.311187 UniGene Hs.707541 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.707541 UniProtKB SO3A1_HUMAN http://www.uniprot.org/uniprot/SO3A1_HUMAN UniProtKB-AC Q9UIG8 http://www.uniprot.org/uniprot/Q9UIG8 charge swissprot:SO3A1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SO3A1_HUMAN eggNOG ENOG410XRSF http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XRSF eggNOG KOG3626 http://eggnogapi.embl.de/nog_data/html/tree/KOG3626 epestfind swissprot:SO3A1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SO3A1_HUMAN garnier swissprot:SO3A1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SO3A1_HUMAN helixturnhelix swissprot:SO3A1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SO3A1_HUMAN hmoment swissprot:SO3A1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SO3A1_HUMAN iep swissprot:SO3A1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SO3A1_HUMAN inforesidue swissprot:SO3A1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SO3A1_HUMAN neXtProt NX_Q9UIG8 http://www.nextprot.org/db/entry/NX_Q9UIG8 octanol swissprot:SO3A1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SO3A1_HUMAN pepcoil swissprot:SO3A1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SO3A1_HUMAN pepdigest swissprot:SO3A1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SO3A1_HUMAN pepinfo swissprot:SO3A1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SO3A1_HUMAN pepnet swissprot:SO3A1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SO3A1_HUMAN pepstats swissprot:SO3A1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SO3A1_HUMAN pepwheel swissprot:SO3A1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SO3A1_HUMAN pepwindow swissprot:SO3A1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SO3A1_HUMAN sigcleave swissprot:SO3A1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SO3A1_HUMAN ## Database ID URL or Descriptions # AltName CXB1_HUMAN Connexin-32 # AltName CXB1_HUMAN GAP junction 28 kDa liver protein # BioGrid 108971 7 # DISEASE CXB1_HUMAN Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM 302800] A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology primary peripheral demyelinating neuropathies characterized by severely reduced motor nerve conduction velocities (NCVs) (less than 38m/s) and segmental demyelination and remyelination, and primary peripheral axonal neuropathies characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration on nerve biopsy. CMTX1 has both demyelinating and axonal features. Central nervous system involvement may occur. {ECO 0000269|PubMed 10071100, ECO 0000269|PubMed 10220155, ECO 0000269|PubMed 10234007, ECO 0000269|PubMed 10586284, ECO 0000269|PubMed 10732813, ECO 0000269|PubMed 10737979, ECO 0000269|PubMed 10873293, ECO 0000269|PubMed 10894999, ECO 0000269|PubMed 10923043, ECO 0000269|PubMed 10938190, ECO 0000269|PubMed 11030070, ECO 0000269|PubMed 11140841, ECO 0000269|PubMed 11180613, ECO 0000269|PubMed 11437164, ECO 0000269|PubMed 11438991, ECO 0000269|PubMed 11562788, ECO 0000269|PubMed 11571214, ECO 0000269|PubMed 11723288, ECO 0000269|PubMed 11835375, ECO 0000269|PubMed 12185164, ECO 0000269|PubMed 12207932, ECO 0000269|PubMed 12325071, ECO 0000269|PubMed 12402337, ECO 0000269|PubMed 12477701, ECO 0000269|PubMed 12497641, ECO 0000269|PubMed 12536289, ECO 0000269|PubMed 12707076, ECO 0000269|PubMed 14627639, ECO 0000269|PubMed 15241803, ECO 0000269|PubMed 15468313, ECO 0000269|PubMed 15852376, ECO 0000269|PubMed 27234031, ECO 0000269|PubMed 7477983, ECO 0000269|PubMed 7833935, ECO 0000269|PubMed 8004109, ECO 0000269|PubMed 8162049, ECO 0000269|PubMed 8266101, ECO 0000269|PubMed 8628473, ECO 0000269|PubMed 8698335, ECO 0000269|PubMed 8733054, ECO 0000269|PubMed 8737658, ECO 0000269|PubMed 8807343, ECO 0000269|PubMed 8829637, ECO 0000269|PubMed 8889588, ECO 0000269|PubMed 8956046, ECO 0000269|PubMed 8990008, ECO 0000269|PubMed 9018031, ECO 0000269|PubMed 9099841, ECO 0000269|PubMed 9187667, ECO 0000269|PubMed 9272161, ECO 0000269|PubMed 9361298, ECO 0000269|PubMed 9452025, ECO 0000269|PubMed 9452099, ECO 0000269|PubMed 9469569, ECO 0000269|PubMed 9633821, ECO 0000269|PubMed 9818870, ECO 0000269|PubMed 9856562, ECO 0000269|Ref.12}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE CXB1_HUMAN Dejerine-Sottas syndrome (DSS) [MIM 145900] A severe degenerating neuropathy of the demyelinating Charcot-Marie-Tooth disease category, with onset by age 2 years. Characterized by motor and sensory neuropathy with very slow nerve conduction velocities, increased cerebrospinal fluid protein concentrations, hypertrophic nerve changes, delayed age of walking as well as areflexia. There are both autosomal dominant and autosomal recessive forms of Dejerine-Sottas syndrome. {ECO 0000269|PubMed 15947997}. Note=The gene represented in this entry may act as a disease modifier. # Ensembl ENST00000361726 ENSP00000354900; ENSG00000169562 # Ensembl ENST00000374022 ENSP00000363134; ENSG00000169562 # Ensembl ENST00000374029 ENSP00000363141; ENSG00000169562 # ExpressionAtlas P08034 baseline and differential # FUNCTION CXB1_HUMAN One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell. # GO_component GO:0005789 endoplasmic reticulum membrane; TAS:Reactome. # GO_component GO:0005922 connexin complex; TAS:ProtInc. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0005243 gap junction channel activity; TAS:Reactome. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0007267 cell-cell signaling; TAS:ProtInc. # GO_process GO:0007399 nervous system development; TAS:ProtInc. # GO_process GO:0015868 purine ribonucleotide transport; IEA:Ensembl. # GO_process GO:0016264 gap junction assembly; TAS:Reactome. # GO_process GO:0051259 protein oligomerization; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0043234 protein complex # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0022607 cellular component assembly # GOslim_process GO:0034330 cell junction organization # GOslim_process GO:0048856 anatomical structure development # Genevisible P08034 HS # HGNC HGNC:4283 GJB1 # InterPro IPR000500 Connexin # InterPro IPR002267 Connexin32 # InterPro IPR013092 Connexin_N # InterPro IPR017990 Connexin_CS # InterPro IPR019570 Connexin_CCC # KEGG_Disease H00264 [Neurodegenerative disease] Peroneal muscular atrophy # MIM 145900 phenotype # MIM 302800 phenotype # MIM 304040 gene # Organism CXB1_HUMAN Homo sapiens (Human) # Orphanet 101075 X-linked Charcot-Marie-Tooth disease type 1 # Orphanet 1175 X-linked progressive cerebellar ataxia # PANTHER PTHR11984 PTHR11984 # PDB 1TXH Model; -; A/B/C/D/E/F=19-209 # PDB 5KK9 NMR; -; A=1-22 # PIR B29005 B29005 # PRINTS PR00206 CONNEXIN # PRINTS PR01138 CONNEXINB1 # PROSITE PS00407 CONNEXINS_1 # PROSITE PS00408 CONNEXINS_2 # Pfam PF00029 Connexin # Proteomes UP000005640 Chromosome X # Reactome R-HSA-190704 Oligomerization of connexins into connexons # Reactome R-HSA-190827 Transport of connexins along the secretory pathway # Reactome R-HSA-190861 Gap junction assembly # RecName CXB1_HUMAN Gap junction beta-1 protein # RefSeq NP_000157 NM_000166.5 # RefSeq NP_001091111 NM_001097642.2 # RefSeq XP_011529209 XM_011530907.2 # RefSeq XP_016884897 XM_017029408.1 # SIMILARITY Belongs to the connexin family. Beta-type (group I) subfamily. {ECO 0000305}. # SMART SM00037 CNX # SMART SM01089 Connexin_CCC # SUBCELLULAR LOCATION CXB1_HUMAN Cell membrane; Multi-pass membrane protein. Cell junction, gap junction. # SUBUNIT A connexon is composed of a hexamer of connexins. Interacts with CNST (By similarity). {ECO 0000250}. # TCDB 1.A.24.1 the gap junction-forming connexin (connexin) family # UCSC uc004dzf human # WEB RESOURCE CXB1_HUMAN Name=Connexin-deafness homepage; URL="http //davinci.crg.es/deafness/"; # WEB RESOURCE CXB1_HUMAN Name=Inherited peripheral neuropathies mutation db; URL="http //www.molgen.ua.ac.be/CMTMutations/"; # eggNOG ENOG410IFM8 Eukaryota # eggNOG ENOG410Y7VN LUCA BLAST swissprot:CXB1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CXB1_HUMAN BioCyc ZFISH:ENSG00000169562-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000169562-MONOMER COXPRESdb 2705 http://coxpresdb.jp/data/gene/2705.shtml CleanEx HS_GJB1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_GJB1 DOI 10.1001/archneur.60.4.605 http://dx.doi.org/10.1001/archneur.60.4.605 DOI 10.1002/(SICI)1096-8628(19960614)63:3<486::AID-AJMG14>3.0.CO http://dx.doi.org/10.1002/(SICI)1096-8628(19960614)63:3<486::AID-AJMG14>3.0.CO DOI 10.1002/(SICI)1096-8628(19981204)80:4<352::AID-AJMG9>3.0.CO http://dx.doi.org/10.1002/(SICI)1096-8628(19981204)80:4<352::AID-AJMG9>3.0.CO DOI 10.1002/(SICI)1097-4547(19980115)51:2<154::AID-JNR4>3.0.CO http://dx.doi.org/10.1002/(SICI)1097-4547(19980115)51:2<154::AID-JNR4>3.0.CO DOI 10.1002/(SICI)1098-1004(1996)7:2<167::AID-HUMU14>3.0.CO http://dx.doi.org/10.1002/(SICI)1098-1004(1996)7:2<167::AID-HUMU14>3.0.CO DOI 10.1002/(SICI)1098-1004(1996)8:1<83::AID-HUMU14>3.3.CO http://dx.doi.org/10.1002/(SICI)1098-1004(1996)8:1<83::AID-HUMU14>3.3.CO DOI 10.1002/(SICI)1098-1004(1996)8:3<270::AID-HUMU12>3.3.CO http://dx.doi.org/10.1002/(SICI)1098-1004(1996)8:3<270::AID-HUMU12>3.3.CO DOI 10.1002/(SICI)1098-1004(1996)8:4<375::AID-HUMU14>3.0.CO http://dx.doi.org/10.1002/(SICI)1098-1004(1996)8:4<375::AID-HUMU14>3.0.CO DOI 10.1002/(SICI)1098-1004(1997)10:6<443::AID-HUMU5>3.0.CO http://dx.doi.org/10.1002/(SICI)1098-1004(1997)10:6<443::AID-HUMU5>3.0.CO DOI 10.1002/(SICI)1098-1004(1997)9:1<47::AID-HUMU8>3.0.CO http://dx.doi.org/10.1002/(SICI)1098-1004(1997)9:1<47::AID-HUMU8>3.0.CO DOI 10.1002/(SICI)1098-1004(1998)12:1<59::AID-HUMU9>3.0.CO http://dx.doi.org/10.1002/(SICI)1098-1004(1998)12:1<59::AID-HUMU9>3.0.CO DOI 10.1002/(SICI)1098-1004(1999)13:1<11::AID-HUMU2>3.0.CO http://dx.doi.org/10.1002/(SICI)1098-1004(1999)13:1<11::AID-HUMU2>3.0.CO DOI 10.1002/(SICI)1098-1004(1999)13:4<339::AID-HUMU18>3.0.CO http://dx.doi.org/10.1002/(SICI)1098-1004(1999)13:4<339::AID-HUMU18>3.0.CO DOI 10.1002/(SICI)1098-1004(200004)15:4<340::AID-HUMU6>3.3.CO http://dx.doi.org/10.1002/(SICI)1098-1004(200004)15:4<340::AID-HUMU6>3.3.CO DOI 10.1002/1098-1004(200008)16:2<177::AID-HUMU14>3.0.CO http://dx.doi.org/10.1002/1098-1004(200008)16:2<177::AID-HUMU14>3.0.CO DOI 10.1002/1098-1004(200102)17:2<157::AID-HUMU22>3.0.CO http://dx.doi.org/10.1002/1098-1004(200102)17:2<157::AID-HUMU22>3.0.CO DOI 10.1002/ana.10089 http://dx.doi.org/10.1002/ana.10089 DOI 10.1002/ana.10305 http://dx.doi.org/10.1002/ana.10305 DOI 10.1002/ana.20459 http://dx.doi.org/10.1002/ana.20459 DOI 10.1002/humu.10134 http://dx.doi.org/10.1002/humu.10134 DOI 10.1002/humu.1147 http://dx.doi.org/10.1002/humu.1147 DOI 10.1002/humu.9101 http://dx.doi.org/10.1002/humu.9101 DOI 10.1002/humu.9261 http://dx.doi.org/10.1002/humu.9261 DOI 10.1002/mus.20166 http://dx.doi.org/10.1002/mus.20166 DOI 10.1006/cbir.1998.0387 http://dx.doi.org/10.1006/cbir.1998.0387 DOI 10.1006/nbdi.1997.0152 http://dx.doi.org/10.1006/nbdi.1997.0152 DOI 10.1006/nbdi.2002.0545 http://dx.doi.org/10.1006/nbdi.2002.0545 DOI 10.1007/s004150170183 http://dx.doi.org/10.1007/s004150170183 DOI 10.1007/s004390050183 http://dx.doi.org/10.1007/s004390050183 DOI 10.1007/s004390050396 http://dx.doi.org/10.1007/s004390050396 DOI 10.1007/s004390050442 http://dx.doi.org/10.1007/s004390050442 DOI 10.1007/s004390050522 http://dx.doi.org/10.1007/s004390050522 DOI 10.1007/s10048-005-0217-4 http://dx.doi.org/10.1007/s10048-005-0217-4 DOI 10.1007/s100480050017 http://dx.doi.org/10.1007/s100480050017 DOI 10.1007/s100720070105 http://dx.doi.org/10.1007/s100720070105 DOI 10.1007/s100720200061 http://dx.doi.org/10.1007/s100720200061 DOI 10.1016/S0960-8966(02)00021-4 http://dx.doi.org/10.1016/S0960-8966(02)00021-4 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1016/j.molcel.2004.08.016 http://dx.doi.org/10.1016/j.molcel.2004.08.016 DOI 10.1034/j.1399-0004.2000.580511.x http://dx.doi.org/10.1034/j.1399-0004.2000.580511.x DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1053/ejpn.2000.0311 http://dx.doi.org/10.1053/ejpn.2000.0311 DOI 10.1073/pnas.261713499 http://dx.doi.org/10.1073/pnas.261713499 DOI 10.1083/jcb.103.3.767 http://dx.doi.org/10.1083/jcb.103.3.767 DOI 10.1093/brain/124.10.1958 http://dx.doi.org/10.1093/brain/124.10.1958 DOI 10.1093/brain/awg012 http://dx.doi.org/10.1093/brain/awg012 DOI 10.1093/hmg/3.1.29 http://dx.doi.org/10.1093/hmg/3.1.29 DOI 10.1093/hmg/3.2.355 http://dx.doi.org/10.1093/hmg/3.2.355 DOI 10.1093/hmg/3.9.1699 http://dx.doi.org/10.1093/hmg/3.9.1699 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/cge.12810 http://dx.doi.org/10.1111/cge.12810 DOI 10.1111/j.1749-6632.1999.tb08621.x http://dx.doi.org/10.1111/j.1749-6632.1999.tb08621.x DOI 10.1126/science.8266101 http://dx.doi.org/10.1126/science.8266101 DOI 10.1136/jmg.33.5.413 http://dx.doi.org/10.1136/jmg.33.5.413 DOI 10.1136/jnnp.66.2.202 http://dx.doi.org/10.1136/jnnp.66.2.202 DOI 10.1136/jnnp.73.3.304 http://dx.doi.org/10.1136/jnnp.73.3.304 DOI 10.1159/000008196 http://dx.doi.org/10.1159/000008196 DOI 10.1212/WNL.45.10.1863 http://dx.doi.org/10.1212/WNL.45.10.1863 DOI 10.1212/WNL.46.5.1311 http://dx.doi.org/10.1212/WNL.46.5.1311 DOI 10.1212/WNL.51.5.1412 http://dx.doi.org/10.1212/WNL.51.5.1412 DOI 10.1212/WNL.57.10.1906 http://dx.doi.org/10.1212/WNL.57.10.1906 EMBL AK313474 http://www.ebi.ac.uk/ena/data/view/AK313474 EMBL BC002805 http://www.ebi.ac.uk/ena/data/view/BC002805 EMBL BC022426 http://www.ebi.ac.uk/ena/data/view/BC022426 EMBL BC039198 http://www.ebi.ac.uk/ena/data/view/BC039198 EMBL BT019329 http://www.ebi.ac.uk/ena/data/view/BT019329 EMBL CH471132 http://www.ebi.ac.uk/ena/data/view/CH471132 EMBL CH471132 http://www.ebi.ac.uk/ena/data/view/CH471132 EMBL L47127 http://www.ebi.ac.uk/ena/data/view/L47127 EMBL X04325 http://www.ebi.ac.uk/ena/data/view/X04325 Ensembl ENST00000361726 http://www.ensembl.org/id/ENST00000361726 Ensembl ENST00000374022 http://www.ensembl.org/id/ENST00000374022 Ensembl ENST00000374029 http://www.ensembl.org/id/ENST00000374029 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005789 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005789 GO_component GO:0005922 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005922 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005243 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005243 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GO_process GO:0007399 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007399 GO_process GO:0015868 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015868 GO_process GO:0016264 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016264 GO_process GO:0051259 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051259 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0022607 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022607 GOslim_process GO:0034330 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034330 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GeneCards GJB1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=GJB1 GeneID 2705 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=2705 GeneTree ENSGT00860000133694 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00860000133694 HGNC HGNC:4283 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:4283 HOGENOM HOG000231127 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231127&db=HOGENOM6 HOVERGEN HBG009576 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG009576&db=HOVERGEN HPA CAB012994 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB012994 HPA HPA010663 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA010663 InParanoid P08034 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P08034 InterPro IPR000500 http://www.ebi.ac.uk/interpro/entry/IPR000500 InterPro IPR002267 http://www.ebi.ac.uk/interpro/entry/IPR002267 InterPro IPR013092 http://www.ebi.ac.uk/interpro/entry/IPR013092 InterPro IPR017990 http://www.ebi.ac.uk/interpro/entry/IPR017990 InterPro IPR019570 http://www.ebi.ac.uk/interpro/entry/IPR019570 Jabion 2705 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=2705 KEGG_Disease H00264 http://www.genome.jp/dbget-bin/www_bget?H00264 KEGG_Gene hsa:2705 http://www.genome.jp/dbget-bin/www_bget?hsa:2705 KEGG_Orthology KO:K07620 http://www.genome.jp/dbget-bin/www_bget?KO:K07620 MIM 145900 http://www.ncbi.nlm.nih.gov/omim/145900 MIM 302800 http://www.ncbi.nlm.nih.gov/omim/302800 MIM 304040 http://www.ncbi.nlm.nih.gov/omim/304040 OMA YLVVRAC http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=YLVVRAC Orphanet 101075 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=101075 Orphanet 1175 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1175 OrthoDB EOG091G0FKH http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0FKH PANTHER PTHR11984 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11984 PDB 1TXH http://www.ebi.ac.uk/pdbe-srv/view/entry/1TXH PDB 5KK9 http://www.ebi.ac.uk/pdbe-srv/view/entry/5KK9 PDBsum 1TXH http://www.ebi.ac.uk/pdbsum/1TXH PDBsum 5KK9 http://www.ebi.ac.uk/pdbsum/5KK9 PRINTS PR00206 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00206 PRINTS PR01138 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01138 PROSITE PS00407 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00407 PROSITE PS00408 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00408 PSORT swissprot:CXB1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CXB1_HUMAN PSORT-B swissprot:CXB1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CXB1_HUMAN PSORT2 swissprot:CXB1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CXB1_HUMAN Pfam PF00029 http://pfam.xfam.org/family/PF00029 PharmGKB PA28694 http://www.pharmgkb.org/do/serve?objId=PA28694&objCls=Gene Phobius swissprot:CXB1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CXB1_HUMAN PhylomeDB P08034 http://phylomedb.org/?seqid=P08034 ProteinModelPortal P08034 http://www.proteinmodelportal.org/query/uniprot/P08034 PubMed 10071100 http://www.ncbi.nlm.nih.gov/pubmed/10071100 PubMed 10220155 http://www.ncbi.nlm.nih.gov/pubmed/10220155 PubMed 10234007 http://www.ncbi.nlm.nih.gov/pubmed/10234007 PubMed 10586284 http://www.ncbi.nlm.nih.gov/pubmed/10586284 PubMed 10732813 http://www.ncbi.nlm.nih.gov/pubmed/10732813 PubMed 10737979 http://www.ncbi.nlm.nih.gov/pubmed/10737979 PubMed 10873293 http://www.ncbi.nlm.nih.gov/pubmed/10873293 PubMed 10894999 http://www.ncbi.nlm.nih.gov/pubmed/10894999 PubMed 10923043 http://www.ncbi.nlm.nih.gov/pubmed/10923043 PubMed 10938190 http://www.ncbi.nlm.nih.gov/pubmed/10938190 PubMed 11030070 http://www.ncbi.nlm.nih.gov/pubmed/11030070 PubMed 11140841 http://www.ncbi.nlm.nih.gov/pubmed/11140841 PubMed 11180613 http://www.ncbi.nlm.nih.gov/pubmed/11180613 PubMed 11437164 http://www.ncbi.nlm.nih.gov/pubmed/11437164 PubMed 11438991 http://www.ncbi.nlm.nih.gov/pubmed/11438991 PubMed 11562788 http://www.ncbi.nlm.nih.gov/pubmed/11562788 PubMed 11571214 http://www.ncbi.nlm.nih.gov/pubmed/11571214 PubMed 11723288 http://www.ncbi.nlm.nih.gov/pubmed/11723288 PubMed 11835375 http://www.ncbi.nlm.nih.gov/pubmed/11835375 PubMed 11891346 http://www.ncbi.nlm.nih.gov/pubmed/11891346 PubMed 12185164 http://www.ncbi.nlm.nih.gov/pubmed/12185164 PubMed 12207932 http://www.ncbi.nlm.nih.gov/pubmed/12207932 PubMed 12325071 http://www.ncbi.nlm.nih.gov/pubmed/12325071 PubMed 12402337 http://www.ncbi.nlm.nih.gov/pubmed/12402337 PubMed 12460545 http://www.ncbi.nlm.nih.gov/pubmed/12460545 PubMed 12477701 http://www.ncbi.nlm.nih.gov/pubmed/12477701 PubMed 12497641 http://www.ncbi.nlm.nih.gov/pubmed/12497641 PubMed 12536289 http://www.ncbi.nlm.nih.gov/pubmed/12536289 PubMed 12707076 http://www.ncbi.nlm.nih.gov/pubmed/12707076 PubMed 14627639 http://www.ncbi.nlm.nih.gov/pubmed/14627639 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15241803 http://www.ncbi.nlm.nih.gov/pubmed/15241803 PubMed 15383278 http://www.ncbi.nlm.nih.gov/pubmed/15383278 PubMed 15468313 http://www.ncbi.nlm.nih.gov/pubmed/15468313 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15852376 http://www.ncbi.nlm.nih.gov/pubmed/15852376 PubMed 15947997 http://www.ncbi.nlm.nih.gov/pubmed/15947997 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 2460334 http://www.ncbi.nlm.nih.gov/pubmed/2460334 PubMed 27234031 http://www.ncbi.nlm.nih.gov/pubmed/27234031 PubMed 2875078 http://www.ncbi.nlm.nih.gov/pubmed/2875078 PubMed 7477983 http://www.ncbi.nlm.nih.gov/pubmed/7477983 PubMed 7833935 http://www.ncbi.nlm.nih.gov/pubmed/7833935 PubMed 8004109 http://www.ncbi.nlm.nih.gov/pubmed/8004109 PubMed 8162049 http://www.ncbi.nlm.nih.gov/pubmed/8162049 PubMed 8266101 http://www.ncbi.nlm.nih.gov/pubmed/8266101 PubMed 8628473 http://www.ncbi.nlm.nih.gov/pubmed/8628473 PubMed 8698335 http://www.ncbi.nlm.nih.gov/pubmed/8698335 PubMed 8733054 http://www.ncbi.nlm.nih.gov/pubmed/8733054 PubMed 8737658 http://www.ncbi.nlm.nih.gov/pubmed/8737658 PubMed 8807343 http://www.ncbi.nlm.nih.gov/pubmed/8807343 PubMed 8829637 http://www.ncbi.nlm.nih.gov/pubmed/8829637 PubMed 8889588 http://www.ncbi.nlm.nih.gov/pubmed/8889588 PubMed 8956046 http://www.ncbi.nlm.nih.gov/pubmed/8956046 PubMed 8990008 http://www.ncbi.nlm.nih.gov/pubmed/8990008 PubMed 9018031 http://www.ncbi.nlm.nih.gov/pubmed/9018031 PubMed 9099841 http://www.ncbi.nlm.nih.gov/pubmed/9099841 PubMed 9187667 http://www.ncbi.nlm.nih.gov/pubmed/9187667 PubMed 9272161 http://www.ncbi.nlm.nih.gov/pubmed/9272161 PubMed 9361298 http://www.ncbi.nlm.nih.gov/pubmed/9361298 PubMed 9401007 http://www.ncbi.nlm.nih.gov/pubmed/9401007 PubMed 9452025 http://www.ncbi.nlm.nih.gov/pubmed/9452025 PubMed 9452099 http://www.ncbi.nlm.nih.gov/pubmed/9452099 PubMed 9469569 http://www.ncbi.nlm.nih.gov/pubmed/9469569 PubMed 9633821 http://www.ncbi.nlm.nih.gov/pubmed/9633821 PubMed 9818870 http://www.ncbi.nlm.nih.gov/pubmed/9818870 PubMed 9856562 http://www.ncbi.nlm.nih.gov/pubmed/9856562 PubMed 9888385 http://www.ncbi.nlm.nih.gov/pubmed/9888385 Reactome R-HSA-190704 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-190704 Reactome R-HSA-190827 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-190827 Reactome R-HSA-190861 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-190861 RefSeq NP_000157 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000157 RefSeq NP_001091111 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001091111 RefSeq XP_011529209 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011529209 RefSeq XP_016884897 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016884897 SMART SM00037 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00037 SMART SM01089 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM01089 STRING 9606.ENSP00000354900 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000354900&targetmode=cogs TCDB 1.A.24.1 http://www.tcdb.org/search/result.php?tc=1.A.24.1 UCSC uc004dzf http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc004dzf&org=rat UniGene Hs.333303 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.333303 UniProtKB CXB1_HUMAN http://www.uniprot.org/uniprot/CXB1_HUMAN UniProtKB-AC P08034 http://www.uniprot.org/uniprot/P08034 charge swissprot:CXB1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CXB1_HUMAN eggNOG ENOG410IFM8 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IFM8 eggNOG ENOG410Y7VN http://eggnogapi.embl.de/nog_data/html/tree/ENOG410Y7VN epestfind swissprot:CXB1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CXB1_HUMAN garnier swissprot:CXB1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CXB1_HUMAN helixturnhelix swissprot:CXB1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CXB1_HUMAN hmoment swissprot:CXB1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CXB1_HUMAN iep swissprot:CXB1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CXB1_HUMAN inforesidue swissprot:CXB1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CXB1_HUMAN neXtProt NX_P08034 http://www.nextprot.org/db/entry/NX_P08034 octanol swissprot:CXB1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CXB1_HUMAN pepcoil swissprot:CXB1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CXB1_HUMAN pepdigest swissprot:CXB1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CXB1_HUMAN pepinfo swissprot:CXB1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CXB1_HUMAN pepnet swissprot:CXB1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CXB1_HUMAN pepstats swissprot:CXB1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CXB1_HUMAN pepwheel swissprot:CXB1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CXB1_HUMAN pepwindow swissprot:CXB1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CXB1_HUMAN sigcleave swissprot:CXB1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CXB1_HUMAN ## Database ID URL or Descriptions # AltName ORNT2_HUMAN Solute carrier family 25 member 2 # BioGrid 123796 2 # DrugBank DB00129 L-Ornithine # Ensembl ENST00000239451 ENSP00000239451; ENSG00000120329 # FUNCTION ORNT2_HUMAN Ornithine transport across inner mitochondrial membrane, from the cytoplasm to the matrix. # GO_component GO:0005743 mitochondrial inner membrane; TAS:Reactome. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0000064 L-ornithine transmembrane transporter activity; EXP:Reactome. # GO_process GO:0000050 urea cycle; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0044281 small molecule metabolic process # GOslim_process GO:0071941 nitrogen cycle metabolic process # Gene3D 1.50.40.10 -; 1. # Genevisible Q9BXI2 HS # HGNC HGNC:22921 SLC25A2 # InterPro IPR018108 Mitochondrial_sb/sol_carrier # InterPro IPR023395 Mt_carrier_dom # KEGG_Brite ko02001 Solute carrier family # MIM 608157 gene # Organism ORNT2_HUMAN Homo sapiens (Human) # POLYMORPHISM ORNT2_HUMAN Variant Cys-159 has a reduced ornithine transport activity, while variant Gly-181 has an increased activity. # PROSITE PS50920 SOLCAR; 3 # Pfam PF00153 Mito_carr; 3 # Proteomes UP000005640 Chromosome 5 # Reactome R-HSA-70635 Urea cycle # RecName ORNT2_HUMAN Mitochondrial ornithine transporter 2 # RefSeq NP_114153 NM_031947.3 # SIMILARITY Belongs to the mitochondrial carrier (TC 2.A.29) family. {ECO 0000305}. # SIMILARITY Contains 3 Solcar repeats. {ECO:0000255|PROSITE- ProRule PRU00282}. # SUBCELLULAR LOCATION ORNT2_HUMAN Mitochondrion inner membrane; Multi-pass membrane protein. # SUPFAM SSF103506 SSF103506 # TCDB 2.A.29.19 the mitochondrial carrier (mc) family # TISSUE SPECIFICITY ORNT2_HUMAN Expressed in liver, kidney, pancreas and cultured fibroblasts. # UCSC uc003ljf human # eggNOG ENOG410XNVH LUCA # eggNOG KOG0763 Eukaryota BLAST swissprot:ORNT2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ORNT2_HUMAN BioCyc ZFISH:ENSG00000120329-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000120329-MONOMER COXPRESdb 83884 http://coxpresdb.jp/data/gene/83884.shtml CleanEx HS_SLC25A2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC25A2 DOI 10.1016/S1096-7192(03)00105-7 http://dx.doi.org/10.1016/S1096-7192(03)00105-7 DOI 10.1101/gr.167301 http://dx.doi.org/10.1101/gr.167301 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DrugBank DB00129 http://www.drugbank.ca/drugs/DB00129 EMBL AF332005 http://www.ebi.ac.uk/ena/data/view/AF332005 EMBL AF378119 http://www.ebi.ac.uk/ena/data/view/AF378119 EMBL AY208943 http://www.ebi.ac.uk/ena/data/view/AY208943 EMBL BC069458 http://www.ebi.ac.uk/ena/data/view/BC069458 EMBL BC100935 http://www.ebi.ac.uk/ena/data/view/BC100935 EMBL BC100936 http://www.ebi.ac.uk/ena/data/view/BC100936 EMBL BC100937 http://www.ebi.ac.uk/ena/data/view/BC100937 EMBL CH471062 http://www.ebi.ac.uk/ena/data/view/CH471062 Ensembl ENST00000239451 http://www.ensembl.org/id/ENST00000239451 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0000064 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000064 GO_process GO:0000050 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000050 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GOslim_process GO:0071941 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071941 Gene3D 1.50.40.10 http://www.cathdb.info/version/latest/superfamily/1.50.40.10 GeneCards SLC25A2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC25A2 GeneID 83884 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=83884 GeneTree ENSGT00730000110966 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00730000110966 HGNC HGNC:22921 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:22921 HOGENOM HOG000168307 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000168307&db=HOGENOM6 HOVERGEN HBG062630 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG062630&db=HOVERGEN HPA HPA042146 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA042146 InParanoid Q9BXI2 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9BXI2 InterPro IPR018108 http://www.ebi.ac.uk/interpro/entry/IPR018108 InterPro IPR023395 http://www.ebi.ac.uk/interpro/entry/IPR023395 Jabion 83884 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=83884 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:83884 http://www.genome.jp/dbget-bin/www_bget?hsa:83884 KEGG_Orthology KO:K15101 http://www.genome.jp/dbget-bin/www_bget?KO:K15101 MIM 608157 http://www.ncbi.nlm.nih.gov/omim/608157 OMA EYSRRMM http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=EYSRRMM OrthoDB EOG091G0HVE http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0HVE PROSITE PS50920 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50920 PSORT swissprot:ORNT2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ORNT2_HUMAN PSORT-B swissprot:ORNT2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ORNT2_HUMAN PSORT2 swissprot:ORNT2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ORNT2_HUMAN Pfam PF00153 http://pfam.xfam.org/family/PF00153 PharmGKB PA134910073 http://www.pharmgkb.org/do/serve?objId=PA134910073&objCls=Gene Phobius swissprot:ORNT2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ORNT2_HUMAN PhylomeDB Q9BXI2 http://phylomedb.org/?seqid=Q9BXI2 ProteinModelPortal Q9BXI2 http://www.proteinmodelportal.org/query/uniprot/Q9BXI2 PubMed 11230163 http://www.ncbi.nlm.nih.gov/pubmed/11230163 PubMed 12948741 http://www.ncbi.nlm.nih.gov/pubmed/12948741 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 Reactome R-HSA-70635 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-70635 RefSeq NP_114153 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_114153 STRING 9606.ENSP00000239451 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000239451&targetmode=cogs SUPFAM SSF103506 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103506 TCDB 2.A.29.19 http://www.tcdb.org/search/result.php?tc=2.A.29.19 UCSC uc003ljf http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003ljf&org=rat UniGene Hs.97647 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.97647 UniProtKB ORNT2_HUMAN http://www.uniprot.org/uniprot/ORNT2_HUMAN UniProtKB-AC Q9BXI2 http://www.uniprot.org/uniprot/Q9BXI2 charge swissprot:ORNT2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ORNT2_HUMAN eggNOG ENOG410XNVH http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XNVH eggNOG KOG0763 http://eggnogapi.embl.de/nog_data/html/tree/KOG0763 epestfind swissprot:ORNT2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ORNT2_HUMAN garnier swissprot:ORNT2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ORNT2_HUMAN helixturnhelix swissprot:ORNT2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ORNT2_HUMAN hmoment swissprot:ORNT2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ORNT2_HUMAN iep swissprot:ORNT2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ORNT2_HUMAN inforesidue swissprot:ORNT2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ORNT2_HUMAN neXtProt NX_Q9BXI2 http://www.nextprot.org/db/entry/NX_Q9BXI2 octanol swissprot:ORNT2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ORNT2_HUMAN pepcoil swissprot:ORNT2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ORNT2_HUMAN pepdigest swissprot:ORNT2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ORNT2_HUMAN pepinfo swissprot:ORNT2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ORNT2_HUMAN pepnet swissprot:ORNT2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ORNT2_HUMAN pepstats swissprot:ORNT2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ORNT2_HUMAN pepwheel swissprot:ORNT2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ORNT2_HUMAN pepwindow swissprot:ORNT2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ORNT2_HUMAN sigcleave swissprot:ORNT2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ORNT2_HUMAN ## Database ID URL or Descriptions # AltName CAC1S_HUMAN Calcium channel, L type, alpha-1 polypeptide, isoform 3, skeletal muscle # AltName CAC1S_HUMAN Voltage-gated calcium channel subunit alpha Cav1.1 # BioGrid 107233 4 # DISEASE CAC1S_HUMAN Malignant hyperthermia 5 (MHS5) [MIM 601887] Autosomal dominant disorder that is potentially lethal in susceptible individuals on exposure to commonly used inhalational anesthetics and depolarizing muscle relaxants. {ECO 0000269|PubMed 9199552}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. # DISEASE CAC1S_HUMAN Periodic paralysis hypokalemic 1 (HOKPP1) [MIM 170400] An autosomal dominant disorder manifested by episodic flaccid generalized muscle weakness associated with falls of serum potassium levels. {ECO 0000269|PubMed 17418573, ECO 0000269|PubMed 18162704, ECO 0000269|PubMed 19118277, ECO 0000269|PubMed 7987325, ECO 0000269|PubMed 8004673}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE CAC1S_HUMAN Thyrotoxic periodic paralysis 1 (TTPP1) [MIM 188580] A sporadic muscular disorder characterized by episodic weakness and hypokalemia during a thyrotoxic state. It is clinically similar to hereditary hypokalemic periodic paralysis, except for the fact that hyperthyroidism is an absolute requirement for disease manifestation. The disease presents with recurrent episodes of acute muscular weakness of the four extremities that vary in severity from paresis to complete paralysis. Attacks are triggered by ingestion of a high carbohydrate load or strenuous physical activity followed by a period of rest. Thyrotoxic periodic paralysis can occur in association with any cause of hyperthyroidism, but is most commonly associated with Graves disease. {ECO 0000269|PubMed 15001631}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. # DOMAIN CAC1S_HUMAN Each of the four internal repeats contains five hydrophobic transmembrane segments (S1, S2, S3, S5, S6) and one positively charged transmembrane segment (S4). S4 segments probably represent the voltage-sensor and are characterized by a series of positively charged amino acids at every third position. # DOMAIN CAC1S_HUMAN The loop between repeats II and III interacts with the ryanodine receptor, and is therefore important for calcium release from the endoplasmic reticulum necessary for muscle contraction. # DrugBank DB00270 Isradipine # DrugBank DB00381 Amlodipine # DrugBank DB00393 Nimodipine # DrugBank DB00401 Nisoldipine # DrugBank DB00421 Spironolactone # DrugBank DB00568 Cinnarizine # DrugBank DB00653 Magnesium Sulfate # DrugBank DB00661 Verapamil # DrugBank DB00898 Ethanol # DrugBank DB01023 Felodipine # DrugBank DB01054 Nitrendipine # DrugBank DB01115 Nifedipine # DrugBank DB04855 Dronedarone # DrugBank DB04920 Clevidipine # DrugBank DB06712 Nilvadipine # Ensembl ENST00000362061 ENSP00000355192; ENSG00000081248 # ExpressionAtlas Q13698 baseline and differential # FUNCTION CAC1S_HUMAN Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1S gives rise to L-type calcium currents. Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group. They are blocked by dihydropyridines (DHP), phenylalkylamines, benzothiazepines, and by omega-agatoxin-IIIA (omega-Aga-IIIA). They are however insensitive to omega-conotoxin- GVIA (omega-CTx-GVIA) and omega-agatoxin-IVA (omega-Aga-IVA). Calcium channels containing the alpha-1S subunit play an important role in excitation-contraction coupling in skeletal muscle. # GO_component GO:0005737 cytoplasm; IDA:UniProtKB. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0005891 voltage-gated calcium channel complex; IDA:UniProtKB. # GO_component GO:0030315 T-tubule; IDA:UniProtKB. # GO_component GO:0031674 I band; IDA:UniProtKB. # GO_function GO:0005245 voltage-gated calcium channel activity; IDA:UniProtKB. # GO_function GO:0008331 high voltage-gated calcium channel activity; IDA:UniProtKB. # GO_function GO:0046872 metal ion binding; IEA:UniProtKB-KW. # GO_process GO:0006816 calcium ion transport; IDA:UniProtKB. # GO_process GO:0006936 muscle contraction; IMP:UniProtKB. # GO_process GO:0061337 cardiac conduction; TAS:Reactome. # GO_process GO:0086010 membrane depolarization during action potential; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # Gene3D 1.20.120.350 -; 4. # Genevisible Q13698 HS # HGNC HGNC:1397 CACNA1S # INTERACTION CAC1S_HUMAN Q86UT5 PDZD3; NbExp=3; IntAct=EBI-5329490, EBI-8744528; # IntAct Q13698 6 # InterPro IPR002077 VDCCAlpha1 # InterPro IPR005446 VDCC_L_a1su # InterPro IPR005450 VDCC_L_a1ssu # InterPro IPR005821 Ion_trans_dom # InterPro IPR014873 VDCC_a1su_IQ # InterPro IPR027359 Channel_four-helix_dom # InterPro IPR031649 GPHH_dom # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00215:[Inherited metabolic disease; Nervous system disease; Muscular disease] Andersen-Tawil syndrome (ATS) [DS H00748] # KEGG_Disease H00746 [Musculoskeletal disease; Nervous system disease; Inherited metabolic disease] Hypokalemic periodic paralysis (HypoPP) # KEGG_Pathway ko04010 MAPK signaling pathway # KEGG_Pathway ko04020 Calcium signaling pathway # KEGG_Pathway ko04260 Cardiac muscle contraction # KEGG_Pathway ko04270 Vascular smooth muscle contraction # KEGG_Pathway ko04723 Retrograde endocannabinoid signaling # KEGG_Pathway ko04725 Cholinergic synapse # KEGG_Pathway ko04726 Serotonergic synapse # KEGG_Pathway ko04727 GABAergic synapse # KEGG_Pathway ko04912 GnRH signaling pathway # KEGG_Pathway ko05010 Alzheimer's disease # KEGG_Pathway ko05410 Hypertrophic cardiomyopathy (HCM) # KEGG_Pathway ko05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC) # KEGG_Pathway ko05414 Dilated cardiomyopathy # MIM 114208 gene # MIM 170400 phenotype # MIM 188580 phenotype # MIM 601887 phenotype # Organism CAC1S_HUMAN Homo sapiens (Human) # Orphanet 397755 Periodic paralysis with transient compartment-like syndrome # Orphanet 423 Malignant hyperthermia # Orphanet 681 Hypokalemic periodic paralysis # Orphanet 79102 Thyrotoxic periodic paralysis # PANTHER PTHR10037:SF190 PTHR10037:SF190; 2 # PDB 2VAY X-ray; 1.94 A; B=1522-1542 # PIR A55645 A55645 # PIR I38611 I38611 # PRINTS PR00167 CACHANNEL # PRINTS PR01630 LVDCCALPHA1 # PRINTS PR01634 LVDCCALPHA1S # PTM CAC1S_HUMAN Phosphorylation by PKA activates the calcium channel. {ECO 0000250}. # Pfam PF00520 Ion_trans; 4 # Pfam PF08763 Ca_chan_IQ # Pfam PF16905 GPHH # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-419037 NCAM1 interactions # Reactome R-HSA-5576892 Phase 0 - rapid depolarisation # Reactome R-HSA-5576893 Phase 2 - plateau phase # Reactome R-HSA-5576894 Phase 1 - inactivation of fast Na+ channels # RecName CAC1S_HUMAN Voltage-dependent L-type calcium channel subunit alpha-1S # RefSeq NP_000060 NM_000069.2 # SIMILARITY Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1S subfamily. {ECO 0000305}. # SMART SM01062 Ca_chan_IQ # SUBCELLULAR LOCATION CAC1S_HUMAN Membrane; Multi-pass membrane protein. # SUBUNIT CAC1S_HUMAN Multisubunit complex consisting of alpha-1, alpha-2, beta and delta subunits in a 1 1 1 1 ratio. The channel activity is directed by the pore-forming and voltage-sensitive alpha-1 subunit. In many cases, this subunit is sufficient to generate voltage-sensitive calcium channel activity. The auxiliary subunits beta and alpha-2/delta linked by a disulfide bridge regulate the channel activity. An additional gamma subunit is present only in skeletal muscle L-type channel. Interacts with DYSF and JSRP1. Interacts with RYR1 (By similarity). {ECO 0000250}. # TISSUE SPECIFICITY CAC1S_HUMAN Skeletal muscle specific. # UCSC uc001gvv human # eggNOG ENOG410XNP6 LUCA # eggNOG KOG2301 Eukaryota BLAST swissprot:CAC1S_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CAC1S_HUMAN BioCyc ZFISH:ENSG00000081248-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000081248-MONOMER COXPRESdb 779 http://coxpresdb.jp/data/gene/779.shtml CleanEx HS_CACNA1S http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CACNA1S DOI 10.1006/geno.1993.1017 http://dx.doi.org/10.1006/geno.1993.1017 DOI 10.1006/geno.1994.1677 http://dx.doi.org/10.1006/geno.1994.1677 DOI 10.1006/geno.1996.0066 http://dx.doi.org/10.1006/geno.1996.0066 DOI 10.1016/0092-8674(94)90135-X http://dx.doi.org/10.1016/0092-8674(94)90135-X DOI 10.1016/j.nmd.2007.01.020 http://dx.doi.org/10.1016/j.nmd.2007.01.020 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1086/515454 http://dx.doi.org/10.1086/515454 DOI 10.1093/hmg/3.8.1415 http://dx.doi.org/10.1093/hmg/3.8.1415 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1210/jc.2003-030924 http://dx.doi.org/10.1210/jc.2003-030924 DOI 10.1212/01.wnl.0000342387.65477.46 http://dx.doi.org/10.1212/01.wnl.0000342387.65477.46 DOI 10.3346/jkms.2007.22.6.946 http://dx.doi.org/10.3346/jkms.2007.22.6.946 DrugBank DB00270 http://www.drugbank.ca/drugs/DB00270 DrugBank DB00381 http://www.drugbank.ca/drugs/DB00381 DrugBank DB00393 http://www.drugbank.ca/drugs/DB00393 DrugBank DB00401 http://www.drugbank.ca/drugs/DB00401 DrugBank DB00421 http://www.drugbank.ca/drugs/DB00421 DrugBank DB00568 http://www.drugbank.ca/drugs/DB00568 DrugBank DB00653 http://www.drugbank.ca/drugs/DB00653 DrugBank DB00661 http://www.drugbank.ca/drugs/DB00661 DrugBank DB00898 http://www.drugbank.ca/drugs/DB00898 DrugBank DB01023 http://www.drugbank.ca/drugs/DB01023 DrugBank DB01054 http://www.drugbank.ca/drugs/DB01054 DrugBank DB01115 http://www.drugbank.ca/drugs/DB01115 DrugBank DB04855 http://www.drugbank.ca/drugs/DB04855 DrugBank DB04920 http://www.drugbank.ca/drugs/DB04920 DrugBank DB06712 http://www.drugbank.ca/drugs/DB06712 EMBL AL139159 http://www.ebi.ac.uk/ena/data/view/AL139159 EMBL AL139159 http://www.ebi.ac.uk/ena/data/view/AL139159 EMBL AL358473 http://www.ebi.ac.uk/ena/data/view/AL358473 EMBL AL358473 http://www.ebi.ac.uk/ena/data/view/AL358473 EMBL BC133671 http://www.ebi.ac.uk/ena/data/view/BC133671 EMBL L33798 http://www.ebi.ac.uk/ena/data/view/L33798 EMBL M87486 http://www.ebi.ac.uk/ena/data/view/M87486 EMBL M87487 http://www.ebi.ac.uk/ena/data/view/M87487 EMBL M87488 http://www.ebi.ac.uk/ena/data/view/M87488 EMBL U09784 http://www.ebi.ac.uk/ena/data/view/U09784 EMBL U30666 http://www.ebi.ac.uk/ena/data/view/U30666 EMBL U30667 http://www.ebi.ac.uk/ena/data/view/U30667 EMBL U30668 http://www.ebi.ac.uk/ena/data/view/U30668 EMBL U30669 http://www.ebi.ac.uk/ena/data/view/U30669 EMBL U30670 http://www.ebi.ac.uk/ena/data/view/U30670 EMBL U30671 http://www.ebi.ac.uk/ena/data/view/U30671 EMBL U30672 http://www.ebi.ac.uk/ena/data/view/U30672 EMBL U30673 http://www.ebi.ac.uk/ena/data/view/U30673 EMBL U30674 http://www.ebi.ac.uk/ena/data/view/U30674 EMBL U30675 http://www.ebi.ac.uk/ena/data/view/U30675 EMBL U30676 http://www.ebi.ac.uk/ena/data/view/U30676 EMBL U30677 http://www.ebi.ac.uk/ena/data/view/U30677 EMBL U30678 http://www.ebi.ac.uk/ena/data/view/U30678 EMBL U30679 http://www.ebi.ac.uk/ena/data/view/U30679 EMBL U30680 http://www.ebi.ac.uk/ena/data/view/U30680 EMBL U30681 http://www.ebi.ac.uk/ena/data/view/U30681 EMBL U30682 http://www.ebi.ac.uk/ena/data/view/U30682 EMBL U30683 http://www.ebi.ac.uk/ena/data/view/U30683 EMBL U30684 http://www.ebi.ac.uk/ena/data/view/U30684 EMBL U30685 http://www.ebi.ac.uk/ena/data/view/U30685 EMBL U30686 http://www.ebi.ac.uk/ena/data/view/U30686 EMBL U30687 http://www.ebi.ac.uk/ena/data/view/U30687 EMBL U30688 http://www.ebi.ac.uk/ena/data/view/U30688 EMBL U30689 http://www.ebi.ac.uk/ena/data/view/U30689 EMBL U30690 http://www.ebi.ac.uk/ena/data/view/U30690 EMBL U30691 http://www.ebi.ac.uk/ena/data/view/U30691 EMBL U30692 http://www.ebi.ac.uk/ena/data/view/U30692 EMBL U30693 http://www.ebi.ac.uk/ena/data/view/U30693 EMBL U30694 http://www.ebi.ac.uk/ena/data/view/U30694 EMBL U30695 http://www.ebi.ac.uk/ena/data/view/U30695 EMBL U30696 http://www.ebi.ac.uk/ena/data/view/U30696 EMBL U30697 http://www.ebi.ac.uk/ena/data/view/U30697 EMBL U30698 http://www.ebi.ac.uk/ena/data/view/U30698 EMBL U30699 http://www.ebi.ac.uk/ena/data/view/U30699 EMBL U30700 http://www.ebi.ac.uk/ena/data/view/U30700 EMBL U30701 http://www.ebi.ac.uk/ena/data/view/U30701 EMBL U30702 http://www.ebi.ac.uk/ena/data/view/U30702 EMBL U30703 http://www.ebi.ac.uk/ena/data/view/U30703 EMBL U30704 http://www.ebi.ac.uk/ena/data/view/U30704 EMBL U30705 http://www.ebi.ac.uk/ena/data/view/U30705 EMBL U30706 http://www.ebi.ac.uk/ena/data/view/U30706 EMBL U30707 http://www.ebi.ac.uk/ena/data/view/U30707 EMBL Z50091 http://www.ebi.ac.uk/ena/data/view/Z50091 EMBL Z50092 http://www.ebi.ac.uk/ena/data/view/Z50092 EMBL Z50093 http://www.ebi.ac.uk/ena/data/view/Z50093 Ensembl ENST00000362061 http://www.ensembl.org/id/ENST00000362061 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005891 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005891 GO_component GO:0030315 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030315 GO_component GO:0031674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031674 GO_function GO:0005245 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005245 GO_function GO:0008331 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008331 GO_function GO:0046872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046872 GO_process GO:0006816 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006816 GO_process GO:0006936 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006936 GO_process GO:0061337 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061337 GO_process GO:0086010 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086010 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 Gene3D 1.20.120.350 http://www.cathdb.info/version/latest/superfamily/1.20.120.350 GeneCards CACNA1S http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CACNA1S GeneID 779 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=779 GeneTree ENSGT00830000128247 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00830000128247 H-InvDB HIX0028855 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0028855 HGNC HGNC:1397 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:1397 HOGENOM HOG000231529 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231529&db=HOGENOM6 HOVERGEN HBG050763 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050763&db=HOVERGEN HPA CAB009507 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB009507 HPA HPA048892 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA048892 HPA HPA056815 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA056815 InParanoid Q13698 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q13698 IntAct Q13698 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q13698* InterPro IPR002077 http://www.ebi.ac.uk/interpro/entry/IPR002077 InterPro IPR005446 http://www.ebi.ac.uk/interpro/entry/IPR005446 InterPro IPR005450 http://www.ebi.ac.uk/interpro/entry/IPR005450 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR014873 http://www.ebi.ac.uk/interpro/entry/IPR014873 InterPro IPR027359 http://www.ebi.ac.uk/interpro/entry/IPR027359 InterPro IPR031649 http://www.ebi.ac.uk/interpro/entry/IPR031649 Jabion 779 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=779 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00215 http://www.genome.jp/dbget-bin/www_bget?H00215 KEGG_Disease H00746 http://www.genome.jp/dbget-bin/www_bget?H00746 KEGG_Gene hsa:779 http://www.genome.jp/dbget-bin/www_bget?hsa:779 KEGG_Orthology KO:K04857 http://www.genome.jp/dbget-bin/www_bget?KO:K04857 KEGG_Pathway ko04010 http://www.genome.jp/kegg-bin/show_pathway?ko04010 KEGG_Pathway ko04020 http://www.genome.jp/kegg-bin/show_pathway?ko04020 KEGG_Pathway ko04260 http://www.genome.jp/kegg-bin/show_pathway?ko04260 KEGG_Pathway ko04270 http://www.genome.jp/kegg-bin/show_pathway?ko04270 KEGG_Pathway ko04723 http://www.genome.jp/kegg-bin/show_pathway?ko04723 KEGG_Pathway ko04725 http://www.genome.jp/kegg-bin/show_pathway?ko04725 KEGG_Pathway ko04726 http://www.genome.jp/kegg-bin/show_pathway?ko04726 KEGG_Pathway ko04727 http://www.genome.jp/kegg-bin/show_pathway?ko04727 KEGG_Pathway ko04912 http://www.genome.jp/kegg-bin/show_pathway?ko04912 KEGG_Pathway ko05010 http://www.genome.jp/kegg-bin/show_pathway?ko05010 KEGG_Pathway ko05410 http://www.genome.jp/kegg-bin/show_pathway?ko05410 KEGG_Pathway ko05412 http://www.genome.jp/kegg-bin/show_pathway?ko05412 KEGG_Pathway ko05414 http://www.genome.jp/kegg-bin/show_pathway?ko05414 MIM 114208 http://www.ncbi.nlm.nih.gov/omim/114208 MIM 170400 http://www.ncbi.nlm.nih.gov/omim/170400 MIM 188580 http://www.ncbi.nlm.nih.gov/omim/188580 MIM 601887 http://www.ncbi.nlm.nih.gov/omim/601887 MINT MINT-7899448 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-7899448 OMA DFAYYYF http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=DFAYYYF Orphanet 397755 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=397755 Orphanet 423 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=423 Orphanet 681 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=681 Orphanet 79102 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=79102 OrthoDB EOG091G0TKO http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0TKO PANTHER PTHR10037:SF190 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10037:SF190 PDB 2VAY http://www.ebi.ac.uk/pdbe-srv/view/entry/2VAY PDBsum 2VAY http://www.ebi.ac.uk/pdbsum/2VAY PRINTS PR00167 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00167 PRINTS PR01630 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01630 PRINTS PR01634 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01634 PSORT swissprot:CAC1S_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CAC1S_HUMAN PSORT-B swissprot:CAC1S_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CAC1S_HUMAN PSORT2 swissprot:CAC1S_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CAC1S_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF08763 http://pfam.xfam.org/family/PF08763 Pfam PF16905 http://pfam.xfam.org/family/PF16905 PharmGKB PA85 http://www.pharmgkb.org/do/serve?objId=PA85&objCls=Gene Phobius swissprot:CAC1S_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CAC1S_HUMAN PhylomeDB Q13698 http://phylomedb.org/?seqid=Q13698 ProteinModelPortal Q13698 http://www.proteinmodelportal.org/query/uniprot/Q13698 PubMed 15001631 http://www.ncbi.nlm.nih.gov/pubmed/15001631 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 17418573 http://www.ncbi.nlm.nih.gov/pubmed/17418573 PubMed 18162704 http://www.ncbi.nlm.nih.gov/pubmed/18162704 PubMed 19118277 http://www.ncbi.nlm.nih.gov/pubmed/19118277 PubMed 7713519 http://www.ncbi.nlm.nih.gov/pubmed/7713519 PubMed 7916735 http://www.ncbi.nlm.nih.gov/pubmed/7916735 PubMed 7987325 http://www.ncbi.nlm.nih.gov/pubmed/7987325 PubMed 8004673 http://www.ncbi.nlm.nih.gov/pubmed/8004673 PubMed 8838325 http://www.ncbi.nlm.nih.gov/pubmed/8838325 PubMed 9199552 http://www.ncbi.nlm.nih.gov/pubmed/9199552 Reactome R-HSA-419037 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-419037 Reactome R-HSA-5576892 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576892 Reactome R-HSA-5576893 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576893 Reactome R-HSA-5576894 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576894 RefSeq NP_000060 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000060 SMART SM01062 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM01062 SMR Q13698 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q13698 STRING 9606.ENSP00000355192 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000355192&targetmode=cogs UCSC uc001gvv http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001gvv&org=rat UniGene Hs.1294 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.1294 UniProtKB CAC1S_HUMAN http://www.uniprot.org/uniprot/CAC1S_HUMAN UniProtKB-AC Q13698 http://www.uniprot.org/uniprot/Q13698 charge swissprot:CAC1S_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CAC1S_HUMAN eggNOG ENOG410XNP6 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XNP6 eggNOG KOG2301 http://eggnogapi.embl.de/nog_data/html/tree/KOG2301 epestfind swissprot:CAC1S_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CAC1S_HUMAN garnier swissprot:CAC1S_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CAC1S_HUMAN helixturnhelix swissprot:CAC1S_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CAC1S_HUMAN hmoment swissprot:CAC1S_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CAC1S_HUMAN iep swissprot:CAC1S_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CAC1S_HUMAN inforesidue swissprot:CAC1S_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CAC1S_HUMAN neXtProt NX_Q13698 http://www.nextprot.org/db/entry/NX_Q13698 octanol swissprot:CAC1S_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CAC1S_HUMAN pepcoil swissprot:CAC1S_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CAC1S_HUMAN pepdigest swissprot:CAC1S_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CAC1S_HUMAN pepinfo swissprot:CAC1S_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CAC1S_HUMAN pepnet swissprot:CAC1S_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CAC1S_HUMAN pepstats swissprot:CAC1S_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CAC1S_HUMAN pepwheel swissprot:CAC1S_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CAC1S_HUMAN pepwindow swissprot:CAC1S_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CAC1S_HUMAN sigcleave swissprot:CAC1S_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CAC1S_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S12A1_HUMAN Event=Alternative splicing; Named isoforms=3; Name=A; IsoId=Q13621-1; Sequence=Displayed; Name=B; IsoId=Q13621-2; Sequence=Not described; Name=F; IsoId=Q13621-3; Sequence=VSP_035701; Note=Ref.1 (AAB07364) sequence is in conflict in positions 220 VV->TI. Ref.1 (AAB07364) sequence is in conflict in position 225 L->I. Ref.1 (AAB07364) sequence is in conflict in position 228 I->M. Ref.1 (AAB07364) sequence is in conflict in position 230 M->T. Ref.1 (AAB07364) sequence is in conflict in position 234 C->A.; # AltName S12A1_HUMAN Bumetanide-sensitive sodium-(potassium)-chloride cotransporter 2 # AltName S12A1_HUMAN Kidney-specific Na-K-Cl symporter # CCDS CCDS10129 -. [Q13621-1] # CCDS CCDS53940 -. [Q13621-3] # ChiTaRS SLC12A1 human # DISEASE S12A1_HUMAN Bartter syndrome 1, antenatal (BARTS1) [MIM 601678] A form of Bartter syndrome, an autosomal recessive disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. BARTS1 is a life-threatening condition beginning in utero, with marked fetal polyuria that leads to polyhydramnios and premature delivery. Another hallmark is a marked hypercalciuria and, as a secondary consequence, the development of nephrocalcinosis and osteopenia. {ECO 0000269|PubMed 8640224}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DrugBank DB00214 Torasemide # DrugBank DB00232 Methyclothiazide # DrugBank DB00310 Chlorthalidone # DrugBank DB00534 Chlormerodrin # DrugBank DB00695 Furosemide # DrugBank DB00761 Potassium Chloride # DrugBank DB00774 Hydroflumethiazide # DrugBank DB00887 Bumetanide # DrugBank DB00903 Ethacrynic acid # DrugBank DB01021 Trichlormethiazide # DrugBank DB01325 Quinethazone # ENZYME REGULATION Activated by WNK3. {ECO:0000269|PubMed 21613606}. # Ensembl ENST00000380993 ENSP00000370381; ENSG00000074803. [Q13621-1] # Ensembl ENST00000396577 ENSP00000379822; ENSG00000074803. [Q13621-3] # Ensembl ENST00000558405 ENSP00000453409; ENSG00000074803. [Q13621-1] # ExpressionAtlas Q13621 baseline and differential # FUNCTION S12A1_HUMAN Electrically silent transporter system. Mediates sodium and chloride reabsorption. Plays a vital role in the regulation of ionic balance and cell volume. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0016020 membrane; TAS:ProtInc. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0016324 apical plasma membrane; IBA:GO_Central. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function S12A1_HUMAN GO 0008511 sodium potassium chloride symporter activity; TAS Reactome. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0006811 ion transport; TAS:Reactome. # GO_process GO:0006813 potassium ion transport; IEA:UniProtKB-KW. # GO_process GO:0006814 sodium ion transport; IEA:UniProtKB-KW. # GO_process GO:0034220 ion transmembrane transport; ISS:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0055085 transmembrane transport # Genevisible Q13621 HS # HGNC HGNC:10910 SLC12A1 # IntAct Q13621 3 # InterPro IPR002443 Na/K/Cl_cotranspt # InterPro IPR002445 Slc12a1 # InterPro IPR004841 AA-permease/SLC12A_dom # InterPro IPR004842 SLC12A_fam # InterPro IPR013612 AA_permease_N # InterPro IPR018491 SLC12_C # KEGG_Brite ko02001 Solute carrier family # KEGG_Disease H00239 [Endocrine disease; Urinary system disease] Bartter syndrome # MIM 600839 gene # MIM 601678 phenotype # Organism S12A1_HUMAN Homo sapiens (Human) # Orphanet 93604 Antenatal Bartter syndrome # PANTHER PTHR11827:SF45 PTHR11827:SF45; 3 # PRINTS PR01207 NAKCLTRNSPRT # PRINTS PR01209 NAKCLTRSPRT2 # Pfam PF00324 AA_permease # Pfam PF03522 SLC12 # Pfam PF08403 AA_permease_N # Proteomes UP000005640 Chromosome 15 # Reactome R-HSA-426117 Cation-coupled Chloride cotransporters # RecName S12A1_HUMAN Solute carrier family 12 member 1 # RefSeq NP_000329 NM_000338.2. [Q13621-1] # RefSeq NP_001171761 NM_001184832.1. [Q13621-3] # SIMILARITY Belongs to the SLC12A transporter family. {ECO 0000305}. # SUBCELLULAR LOCATION S12A1_HUMAN Membrane; Multi-pass membrane protein. # TCDB 2.A.30.1 the cation-chloride cotransporter (ccc) family # TIGRFAMs TIGR00930 2a30 # TISSUE SPECIFICITY S12A1_HUMAN Kidney specific. # UCSC uc001zwn human. [Q13621-1] # eggNOG COG0531 LUCA # eggNOG KOG2083 Eukaryota BLAST swissprot:S12A1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S12A1_HUMAN BioCyc ZFISH:ENSG00000074803-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000074803-MONOMER COXPRESdb 6557 http://coxpresdb.jp/data/gene/6557.shtml CleanEx HS_SLC12A1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC12A1 DOI 10.1038/nature04601 http://dx.doi.org/10.1038/nature04601 DOI 10.1038/ng0696-183 http://dx.doi.org/10.1038/ng0696-183 DOI 10.1152/ajpcell.00070.2011 http://dx.doi.org/10.1152/ajpcell.00070.2011 DrugBank DB00214 http://www.drugbank.ca/drugs/DB00214 DrugBank DB00232 http://www.drugbank.ca/drugs/DB00232 DrugBank DB00310 http://www.drugbank.ca/drugs/DB00310 DrugBank DB00534 http://www.drugbank.ca/drugs/DB00534 DrugBank DB00695 http://www.drugbank.ca/drugs/DB00695 DrugBank DB00761 http://www.drugbank.ca/drugs/DB00761 DrugBank DB00774 http://www.drugbank.ca/drugs/DB00774 DrugBank DB00887 http://www.drugbank.ca/drugs/DB00887 DrugBank DB00903 http://www.drugbank.ca/drugs/DB00903 DrugBank DB01021 http://www.drugbank.ca/drugs/DB01021 DrugBank DB01325 http://www.drugbank.ca/drugs/DB01325 EMBL AC023355 http://www.ebi.ac.uk/ena/data/view/AC023355 EMBL AC066612 http://www.ebi.ac.uk/ena/data/view/AC066612 EMBL EF559316 http://www.ebi.ac.uk/ena/data/view/EF559316 EMBL U58130 http://www.ebi.ac.uk/ena/data/view/U58130 Ensembl ENST00000380993 http://www.ensembl.org/id/ENST00000380993 Ensembl ENST00000396577 http://www.ensembl.org/id/ENST00000396577 Ensembl ENST00000558405 http://www.ensembl.org/id/ENST00000558405 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0008511 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008511 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0006811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006811 GO_process GO:0006813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006813 GO_process GO:0006814 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006814 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC12A1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC12A1 GeneID 6557 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6557 GeneTree ENSGT00760000119053 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119053 H-InvDB HIX0026769 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0026769 HGNC HGNC:10910 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10910 HOGENOM HOG000062855 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000062855&db=HOGENOM6 HOVERGEN HBG052851 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052851&db=HOVERGEN HPA HPA014967 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA014967 HPA HPA018107 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA018107 InParanoid Q13621 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q13621 IntAct Q13621 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q13621* InterPro IPR002443 http://www.ebi.ac.uk/interpro/entry/IPR002443 InterPro IPR002445 http://www.ebi.ac.uk/interpro/entry/IPR002445 InterPro IPR004841 http://www.ebi.ac.uk/interpro/entry/IPR004841 InterPro IPR004842 http://www.ebi.ac.uk/interpro/entry/IPR004842 InterPro IPR013612 http://www.ebi.ac.uk/interpro/entry/IPR013612 InterPro IPR018491 http://www.ebi.ac.uk/interpro/entry/IPR018491 Jabion 6557 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6557 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Disease H00239 http://www.genome.jp/dbget-bin/www_bget?H00239 KEGG_Gene hsa:6557 http://www.genome.jp/dbget-bin/www_bget?hsa:6557 KEGG_Orthology KO:K14425 http://www.genome.jp/dbget-bin/www_bget?KO:K14425 MIM 600839 http://www.ncbi.nlm.nih.gov/omim/600839 MIM 601678 http://www.ncbi.nlm.nih.gov/omim/601678 OMA CVKEMNS http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=CVKEMNS Orphanet 93604 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=93604 OrthoDB EOG091G04G2 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G04G2 PANTHER PTHR11827:SF45 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11827:SF45 PRINTS PR01207 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01207 PRINTS PR01209 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01209 PSORT swissprot:S12A1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S12A1_HUMAN PSORT-B swissprot:S12A1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S12A1_HUMAN PSORT2 swissprot:S12A1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S12A1_HUMAN Pfam PF00324 http://pfam.xfam.org/family/PF00324 Pfam PF03522 http://pfam.xfam.org/family/PF03522 Pfam PF08403 http://pfam.xfam.org/family/PF08403 PharmGKB PA320 http://www.pharmgkb.org/do/serve?objId=PA320&objCls=Gene Phobius swissprot:S12A1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S12A1_HUMAN PhylomeDB Q13621 http://phylomedb.org/?seqid=Q13621 ProteinModelPortal Q13621 http://www.proteinmodelportal.org/query/uniprot/Q13621 PubMed 16572171 http://www.ncbi.nlm.nih.gov/pubmed/16572171 PubMed 21613606 http://www.ncbi.nlm.nih.gov/pubmed/21613606 PubMed 8640224 http://www.ncbi.nlm.nih.gov/pubmed/8640224 Reactome R-HSA-426117 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-426117 RefSeq NP_000329 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000329 RefSeq NP_001171761 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001171761 STRING 9606.ENSP00000370381 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000370381&targetmode=cogs TCDB 2.A.30.1 http://www.tcdb.org/search/result.php?tc=2.A.30.1 TIGRFAMs TIGR00930 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00930 UCSC uc001zwn http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001zwn&org=rat UniGene Hs.123116 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.123116 UniGene Hs.605373 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.605373 UniProtKB S12A1_HUMAN http://www.uniprot.org/uniprot/S12A1_HUMAN UniProtKB-AC Q13621 http://www.uniprot.org/uniprot/Q13621 charge swissprot:S12A1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S12A1_HUMAN eggNOG COG0531 http://eggnogapi.embl.de/nog_data/html/tree/COG0531 eggNOG KOG2083 http://eggnogapi.embl.de/nog_data/html/tree/KOG2083 epestfind swissprot:S12A1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S12A1_HUMAN garnier swissprot:S12A1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S12A1_HUMAN helixturnhelix swissprot:S12A1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S12A1_HUMAN hmoment swissprot:S12A1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S12A1_HUMAN iep swissprot:S12A1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S12A1_HUMAN inforesidue swissprot:S12A1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S12A1_HUMAN neXtProt NX_Q13621 http://www.nextprot.org/db/entry/NX_Q13621 octanol swissprot:S12A1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S12A1_HUMAN pepcoil swissprot:S12A1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S12A1_HUMAN pepdigest swissprot:S12A1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S12A1_HUMAN pepinfo swissprot:S12A1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S12A1_HUMAN pepnet swissprot:S12A1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S12A1_HUMAN pepstats swissprot:S12A1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S12A1_HUMAN pepwheel swissprot:S12A1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S12A1_HUMAN pepwindow swissprot:S12A1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S12A1_HUMAN sigcleave swissprot:S12A1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S12A1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS AT133_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9H7F0-1; Sequence=Displayed; Name=2; IsoId=Q9H7F0-2; Sequence=VSP_007314, VSP_036300, VSP_007315, VSP_007316; Note=Dubious isoform produced through aberrant splice sites.; # AltName AT133_HUMAN ATPase family homolog up-regulated in senescence cells 1 # BioGrid 122719 11 # CATALYTIC ACTIVITY AT133_HUMAN ATP + H(2)O = ADP + phosphate. # CCDS CCDS43187 -. [Q9H7F0-1] # ChiTaRS ATP13A3 human # Ensembl ENST00000256031 ENSP00000256031; ENSG00000133657. [Q9H7F0-1] # Ensembl ENST00000439040 ENSP00000416508; ENSG00000133657. [Q9H7F0-1] # ExpressionAtlas Q9H7F0 baseline and differential # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0043231 intracellular membrane-bounded organelle; IBA:GO_Central. # GO_function GO:0005524 ATP binding; IEA:UniProtKB-KW. # GO_function GO:0019829 cation-transporting ATPase activity; IBA:GO_Central. # GO_function GO:0046872 metal ion binding; IEA:UniProtKB-KW. # GO_process GO:0006874 cellular calcium ion homeostasis; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0043226 organelle # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0042592 homeostatic process # Gene3D 2.70.150.10 -; 1. # Gene3D 3.40.1110.10 -; 2. # Gene3D 3.40.50.1000 -; 2. # Genevisible Q9H7F0 HS # HGNC HGNC:24113 ATP13A3 # IntAct Q9H7F0 4 # InterPro IPR001757 P_typ_ATPase # InterPro IPR004014 ATPase_P-typ_cation-transptr_N # InterPro IPR006068 ATPase_P-typ_cation-transptr_C # InterPro IPR006544 P-type_TPase_V # InterPro IPR008250 ATPase_P-typ_transduc_dom_A # InterPro IPR018303 ATPase_P-typ_P_site # InterPro IPR023214 HAD-like_dom # InterPro IPR023299 ATPase_P-typ_cyto_domN # KEGG_Brite ko01000 Enzymes # MIM 610232 gene # Organism AT133_HUMAN Homo sapiens (Human) # PROSITE PS00154 ATPASE_E1_E2 # Pfam PF00122 E1-E2_ATPase # Pfam PF00689 Cation_ATPase_C # Pfam PF00690 Cation_ATPase_N # Pfam PF12409 P5-ATPase # Proteomes UP000005640 Chromosome 3 # RecName AT133_HUMAN Probable cation-transporting ATPase 13A3 # RefSeq NP_078800 NM_024524.3. [Q9H7F0-1] # RefSeq XP_011511425 XM_011513123.2. [Q9H7F0-1] # SEQUENCE CAUTION Sequence=BAB14942.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB14942.1; Type=Frameshift; Positions=1065; Evidence={ECO 0000305}; Sequence=BAC11398.1; Type=Erroneous initiation; Evidence={ECO:0000305}; # SIMILARITY Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type V subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION AT133_HUMAN Membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. # SUPFAM SSF56784 SSF56784; 3 # SUPFAM SSF81660 SSF81660; 2 # TIGRFAMs TIGR01494 ATPase_P-type; 3 # TIGRFAMs TIGR01657 P-ATPase-V # UCSC uc003fty human. [Q9H7F0-1] # eggNOG ENOG410XRCA LUCA # eggNOG KOG0208 Eukaryota BLAST swissprot:AT133_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:AT133_HUMAN BioCyc ZFISH:ENSG00000133657-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000133657-MONOMER COXPRESdb 79572 http://coxpresdb.jp/data/gene/79572.shtml CleanEx HS_ATP13A3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ATP13A3 DOI 10.1016/S0378-1119(01)00881-2 http://dx.doi.org/10.1016/S0378-1119(01)00881-2 DOI 10.1016/j.cell.2006.09.026 http://dx.doi.org/10.1016/j.cell.2006.09.026 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1016/j.molcel.2008.07.007 http://dx.doi.org/10.1016/j.molcel.2008.07.007 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature04728 http://dx.doi.org/10.1038/nature04728 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1126/scisignal.2000007 http://dx.doi.org/10.1126/scisignal.2000007 DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 DOI 10.1126/scisignal.2001570 http://dx.doi.org/10.1126/scisignal.2001570 EC_number EC:3.6.3.- http://www.genome.jp/dbget-bin/www_bget?EC:3.6.3.- EMBL AC108676 http://www.ebi.ac.uk/ena/data/view/AC108676 EMBL AC125362 http://www.ebi.ac.uk/ena/data/view/AC125362 EMBL AJ306929 http://www.ebi.ac.uk/ena/data/view/AJ306929 EMBL AK024639 http://www.ebi.ac.uk/ena/data/view/AK024639 EMBL AK075094 http://www.ebi.ac.uk/ena/data/view/AK075094 ENZYME 3.6.3.- http://enzyme.expasy.org/EC/3.6.3.- Ensembl ENST00000256031 http://www.ensembl.org/id/ENST00000256031 Ensembl ENST00000439040 http://www.ensembl.org/id/ENST00000439040 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0043231 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043231 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0019829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019829 GO_function GO:0046872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046872 GO_process GO:0006874 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006874 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 Gene3D 2.70.150.10 http://www.cathdb.info/version/latest/superfamily/2.70.150.10 Gene3D 3.40.1110.10 http://www.cathdb.info/version/latest/superfamily/3.40.1110.10 Gene3D 3.40.50.1000 http://www.cathdb.info/version/latest/superfamily/3.40.50.1000 GeneCards ATP13A3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ATP13A3 GeneID 79572 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=79572 GeneTree ENSGT00530000063001 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000063001 HGNC HGNC:24113 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:24113 HOGENOM HOG000171813 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000171813&db=HOGENOM6 HOVERGEN HBG065757 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG065757&db=HOVERGEN HPA HPA029471 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA029471 InParanoid Q9H7F0 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9H7F0 IntAct Q9H7F0 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9H7F0* IntEnz 3.6.3 http://www.ebi.ac.uk/intenz/query?cmd=Search&q=3.6.3 InterPro IPR001757 http://www.ebi.ac.uk/interpro/entry/IPR001757 InterPro IPR004014 http://www.ebi.ac.uk/interpro/entry/IPR004014 InterPro IPR006068 http://www.ebi.ac.uk/interpro/entry/IPR006068 InterPro IPR006544 http://www.ebi.ac.uk/interpro/entry/IPR006544 InterPro IPR008250 http://www.ebi.ac.uk/interpro/entry/IPR008250 InterPro IPR018303 http://www.ebi.ac.uk/interpro/entry/IPR018303 InterPro IPR023214 http://www.ebi.ac.uk/interpro/entry/IPR023214 InterPro IPR023299 http://www.ebi.ac.uk/interpro/entry/IPR023299 Jabion 79572 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=79572 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Gene hsa:79572 http://www.genome.jp/dbget-bin/www_bget?hsa:79572 KEGG_Orthology KO:K14951 http://www.genome.jp/dbget-bin/www_bget?KO:K14951 MIM 610232 http://www.ncbi.nlm.nih.gov/omim/610232 OMA ENRHRIS http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=ENRHRIS OrthoDB EOG091G01IL http://cegg.unige.ch/orthodb/results?searchtext=EOG091G01IL PROSITE PS00154 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00154 PSORT swissprot:AT133_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:AT133_HUMAN PSORT-B swissprot:AT133_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:AT133_HUMAN PSORT2 swissprot:AT133_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:AT133_HUMAN Pfam PF00122 http://pfam.xfam.org/family/PF00122 Pfam PF00689 http://pfam.xfam.org/family/PF00689 Pfam PF00690 http://pfam.xfam.org/family/PF00690 Pfam PF12409 http://pfam.xfam.org/family/PF12409 PharmGKB PA134971145 http://www.pharmgkb.org/do/serve?objId=PA134971145&objCls=Gene Phobius swissprot:AT133_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:AT133_HUMAN PhylomeDB Q9H7F0 http://phylomedb.org/?seqid=Q9H7F0 ProteinModelPortal Q9H7F0 http://www.proteinmodelportal.org/query/uniprot/Q9H7F0 PubMed 11867234 http://www.ncbi.nlm.nih.gov/pubmed/11867234 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 16641997 http://www.ncbi.nlm.nih.gov/pubmed/16641997 PubMed 17081983 http://www.ncbi.nlm.nih.gov/pubmed/17081983 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 18691976 http://www.ncbi.nlm.nih.gov/pubmed/18691976 PubMed 19690332 http://www.ncbi.nlm.nih.gov/pubmed/19690332 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 21406692 http://www.ncbi.nlm.nih.gov/pubmed/21406692 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 RefSeq NP_078800 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_078800 RefSeq XP_011511425 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011511425 STRING 9606.ENSP00000256031 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000256031&targetmode=cogs SUPFAM SSF56784 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF56784 SUPFAM SSF81660 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81660 TIGRFAMs TIGR01494 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01494 TIGRFAMs TIGR01657 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01657 UCSC uc003fty http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003fty&org=rat UniGene Hs.529609 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.529609 UniProtKB AT133_HUMAN http://www.uniprot.org/uniprot/AT133_HUMAN UniProtKB-AC Q9H7F0 http://www.uniprot.org/uniprot/Q9H7F0 charge swissprot:AT133_HUMAN http://rest.g-language.org/emboss/charge/swissprot:AT133_HUMAN eggNOG ENOG410XRCA http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XRCA eggNOG KOG0208 http://eggnogapi.embl.de/nog_data/html/tree/KOG0208 epestfind swissprot:AT133_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:AT133_HUMAN garnier swissprot:AT133_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:AT133_HUMAN helixturnhelix swissprot:AT133_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:AT133_HUMAN hmoment swissprot:AT133_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:AT133_HUMAN iep swissprot:AT133_HUMAN http://rest.g-language.org/emboss/iep/swissprot:AT133_HUMAN inforesidue swissprot:AT133_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:AT133_HUMAN neXtProt NX_Q9H7F0 http://www.nextprot.org/db/entry/NX_Q9H7F0 octanol swissprot:AT133_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:AT133_HUMAN pepcoil swissprot:AT133_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:AT133_HUMAN pepdigest swissprot:AT133_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:AT133_HUMAN pepinfo swissprot:AT133_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:AT133_HUMAN pepnet swissprot:AT133_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:AT133_HUMAN pepstats swissprot:AT133_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:AT133_HUMAN pepwheel swissprot:AT133_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:AT133_HUMAN pepwindow swissprot:AT133_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:AT133_HUMAN sigcleave swissprot:AT133_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:AT133_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S39AB_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8N1S5-1; Sequence=Displayed; Name=2; IsoId=Q8N1S5-2; Sequence=VSP_028976; # AltName S39AB_HUMAN Solute carrier family 39 member 11 # AltName S39AB_HUMAN Zrt- and Irt-like protein 11 # BioGrid 128379 27 # CCDS CCDS11690 -. [Q8N1S5-2] # CCDS CCDS54160 -. [Q8N1S5-1] # ChiTaRS SLC39A11 human # Ensembl ENST00000255559 ENSP00000255559; ENSG00000133195. [Q8N1S5-2] # Ensembl ENST00000542342 ENSP00000445829; ENSG00000133195. [Q8N1S5-1] # ExpressionAtlas Q8N1S5 baseline and differential # FUNCTION S39AB_HUMAN Functions as a cellular zinc transporter. {ECO 0000250|UniProtKB Q8BWY7}. # GO_component GO:0005634 nucleus; ISS:UniProtKB. # GO_component GO:0005737 cytoplasm; ISS:UniProtKB. # GO_component GO:0005794 Golgi apparatus; ISS:UniProtKB. # GO_component GO:0005886 plasma membrane; ISS:UniProtKB. # GO_component GO:0016020 membrane; IBA:GO_Central. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0005385 zinc ion transmembrane transporter activity; ISS:UniProtKB. # GO_process GO:0071577 zinc II ion transmembrane transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005794 Golgi apparatus # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0055085 transmembrane transport # Genevisible Q8N1S5 HS # HGNC HGNC:14463 SLC39A11 # InterPro IPR003689 ZIP # KEGG_Brite ko02001 Solute carrier family # MIM 616508 gene # Organism S39AB_HUMAN Homo sapiens (Human) # Pfam PF02535 Zip # Proteomes UP000005640 Chromosome 17 # RecName S39AB_HUMAN Zinc transporter ZIP11 # RefSeq NP_001153242 NM_001159770.1. [Q8N1S5-1] # RefSeq NP_631916 NM_139177.3. [Q8N1S5-2] # RefSeq XP_005257191 XM_005257134.3. [Q8N1S5-2] # RefSeq XP_006721817 XM_006721754.3. [Q8N1S5-1] # RefSeq XP_006721818 XM_006721755.2. [Q8N1S5-1] # RefSeq XP_011522795 XM_011524493.1. [Q8N1S5-1] # RefSeq XP_011522796 XM_011524494.2. [Q8N1S5-1] # RefSeq XP_016879819 XM_017024330.1. [Q8N1S5-2] # RefSeq XP_016879820 XM_017024331.1. [Q8N1S5-2] # RefSeq XP_016879821 XM_017024332.1. [Q8N1S5-2] # SIMILARITY Belongs to the ZIP transporter (TC 2.A.5) family. {ECO 0000305}. # SUBCELLULAR LOCATION S39AB_HUMAN Cell membrane {ECO 0000250|UniProtKB Q8BWY7}; Multi-pass membrane protein {ECO 0000250|UniProtKB Q8BWY7}. Nucleus {ECO 0000250|UniProtKB Q8BWY7}. Cytoplasm {ECO 0000250|UniProtKB Q8BWY7}. Golgi apparatus {ECO 0000250|UniProtKB Q8BWY7}. # TCDB 2.A.5.5 the zinc (zn(2+))-iron (fe(2+)) permease (zip) family # UCSC uc002jja human. [Q8N1S5-1] # eggNOG COG0428 LUCA # eggNOG KOG2474 Eukaryota BLAST swissprot:S39AB_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S39AB_HUMAN COXPRESdb 201266 http://coxpresdb.jp/data/gene/201266.shtml CleanEx HS_SLC39A11 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC39A11 DOI 10.1006/geno.2001.6648 http://dx.doi.org/10.1006/geno.2001.6648 DOI 10.1038/nature04689 http://dx.doi.org/10.1038/nature04689 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AC011120 http://www.ebi.ac.uk/ena/data/view/AC011120 EMBL AC025198 http://www.ebi.ac.uk/ena/data/view/AC025198 EMBL AC080037 http://www.ebi.ac.uk/ena/data/view/AC080037 EMBL AC138336 http://www.ebi.ac.uk/ena/data/view/AC138336 EMBL AF331643 http://www.ebi.ac.uk/ena/data/view/AF331643 EMBL AK095227 http://www.ebi.ac.uk/ena/data/view/AK095227 EMBL AK313376 http://www.ebi.ac.uk/ena/data/view/AK313376 EMBL BC035631 http://www.ebi.ac.uk/ena/data/view/BC035631 EMBL CH471099 http://www.ebi.ac.uk/ena/data/view/CH471099 Ensembl ENST00000255559 http://www.ensembl.org/id/ENST00000255559 Ensembl ENST00000542342 http://www.ensembl.org/id/ENST00000542342 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005385 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005385 GO_process GO:0071577 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071577 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards GC17M072645 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=GC17M072645 GeneID 201266 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=201266 GeneTree ENSGT00390000006167 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000006167 H-InvDB HIX0014131 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0014131 HGNC HGNC:14463 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:14463 HOGENOM HOG000232703 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000232703&db=HOGENOM6 HOVERGEN HBG108448 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG108448&db=HOVERGEN InParanoid Q8N1S5 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8N1S5 InterPro IPR003689 http://www.ebi.ac.uk/interpro/entry/IPR003689 Jabion 201266 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=201266 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:201266 http://www.genome.jp/dbget-bin/www_bget?hsa:201266 KEGG_Orthology KO:K14717 http://www.genome.jp/dbget-bin/www_bget?KO:K14717 MIM 616508 http://www.ncbi.nlm.nih.gov/omim/616508 OMA MIFVVIE http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=MIFVVIE OrthoDB EOG091G0LUY http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0LUY PSORT swissprot:S39AB_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S39AB_HUMAN PSORT-B swissprot:S39AB_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S39AB_HUMAN PSORT2 swissprot:S39AB_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S39AB_HUMAN Pfam PF02535 http://pfam.xfam.org/family/PF02535 PharmGKB PA25581 http://www.pharmgkb.org/do/serve?objId=PA25581&objCls=Gene Phobius swissprot:S39AB_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S39AB_HUMAN PhylomeDB Q8N1S5 http://phylomedb.org/?seqid=Q8N1S5 ProteinModelPortal Q8N1S5 http://www.proteinmodelportal.org/query/uniprot/Q8N1S5 PubMed 11707075 http://www.ncbi.nlm.nih.gov/pubmed/11707075 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16625196 http://www.ncbi.nlm.nih.gov/pubmed/16625196 RefSeq NP_001153242 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001153242 RefSeq NP_631916 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_631916 RefSeq XP_005257191 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005257191 RefSeq XP_006721817 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006721817 RefSeq XP_006721818 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006721818 RefSeq XP_011522795 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011522795 RefSeq XP_011522796 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011522796 RefSeq XP_016879819 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016879819 RefSeq XP_016879820 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016879820 RefSeq XP_016879821 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016879821 STRING 9606.ENSP00000445829 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000445829&targetmode=cogs TCDB 2.A.5.5 http://www.tcdb.org/search/result.php?tc=2.A.5.5 UCSC uc002jja http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002jja&org=rat UniGene Hs.221127 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.221127 UniProtKB S39AB_HUMAN http://www.uniprot.org/uniprot/S39AB_HUMAN UniProtKB-AC Q8N1S5 http://www.uniprot.org/uniprot/Q8N1S5 charge swissprot:S39AB_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S39AB_HUMAN eggNOG COG0428 http://eggnogapi.embl.de/nog_data/html/tree/COG0428 eggNOG KOG2474 http://eggnogapi.embl.de/nog_data/html/tree/KOG2474 epestfind swissprot:S39AB_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S39AB_HUMAN garnier swissprot:S39AB_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S39AB_HUMAN helixturnhelix swissprot:S39AB_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S39AB_HUMAN hmoment swissprot:S39AB_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S39AB_HUMAN iep swissprot:S39AB_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S39AB_HUMAN inforesidue swissprot:S39AB_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S39AB_HUMAN neXtProt NX_Q8N1S5 http://www.nextprot.org/db/entry/NX_Q8N1S5 octanol swissprot:S39AB_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S39AB_HUMAN pepcoil swissprot:S39AB_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S39AB_HUMAN pepdigest swissprot:S39AB_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S39AB_HUMAN pepinfo swissprot:S39AB_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S39AB_HUMAN pepnet swissprot:S39AB_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S39AB_HUMAN pepstats swissprot:S39AB_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S39AB_HUMAN pepwheel swissprot:S39AB_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S39AB_HUMAN pepwindow swissprot:S39AB_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S39AB_HUMAN sigcleave swissprot:S39AB_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S39AB_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS AT2B4_HUMAN Event=Alternative splicing; Named isoforms=8; Comment=There is a combination of two alternatively spliced domains at N-terminal site A (X and Z) and at C-terminal site B/C (A, B, D and K). The splice sites have mostly been studied independently. Full isoforms so far detected are isoform XA and isoform XB. Experimental confirmation may be lacking for some isoforms.; Name=XD; Synonyms=AIICIV; IsoId=P23634-1; Sequence=Displayed; Name=XA; Synonyms=AIICII; IsoId=P23634-2; Sequence=VSP_000405; Name=ZA; Synonyms=AICII; IsoId=P23634-3; Sequence=VSP_000402, VSP_000405; Name=XK; Synonyms=XG; IsoId=P23634-4; Sequence=VSP_000403, VSP_000405; Name=ZK; Synonyms=ZG; IsoId=P23634-5; Sequence=VSP_000402, VSP_000403, VSP_000405; Name=XB; Synonyms=AIICI, hPMCA4b; IsoId=P23634-6; Sequence=VSP_000404; Name=ZB; Synonyms=AICI; IsoId=P23634-7; Sequence=VSP_000402, VSP_000404; Name=ZD; Synonyms=AICIV; IsoId=P23634-8; Sequence=VSP_000402; # AltName AT2B4_HUMAN Matrix-remodeling-associated protein 1 # AltName AT2B4_HUMAN Plasma membrane calcium ATPase isoform 4 # AltName AT2B4_HUMAN Plasma membrane calcium pump isoform 4 # BioGrid 106983 49 # CATALYTIC ACTIVITY ATP + H(2)O + Ca(2+)(Side 1) = ADP + phosphate + Ca(2+)(Side 2). {ECO:0000269|PubMed 8530416}. # CCDS CCDS1440 -. [P23634-6] # CCDS CCDS30977 -. [P23634-2] # ChiTaRS ATP2B4 human # ENZYME REGULATION Activated by calcium/calmodulin. {ECO:0000269|PubMed 8530416}. # Ensembl ENST00000341360 ENSP00000340930; ENSG00000058668. [P23634-2] # Ensembl ENST00000357681 ENSP00000350310; ENSG00000058668. [P23634-6] # Ensembl ENST00000367218 ENSP00000356187; ENSG00000058668. [P23634-2] # ExpressionAtlas P23634 baseline and differential # FUNCTION AT2B4_HUMAN Calcium/calmodulin-regulated and magnesium-dependent enzyme that catalyzes the hydrolysis of ATP coupled with the transport of calcium out of the cell (PubMed 8530416). By regulating sperm cell calcium homeostasis, may play a role in sperm motility (By similarity). {ECO 0000250|UniProtKB Q6Q477, ECO 0000269|PubMed 8530416}. # GO_component GO:0005886 plasma membrane; IDA:HPA. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0005901 caveola; TAS:BHF-UCL. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0016323 basolateral plasma membrane; IEA:Ensembl. # GO_component GO:0030018 Z disc; IDA:BHF-UCL. # GO_component GO:0030315 T-tubule; IDA:BHF-UCL. # GO_component GO:0036126 sperm flagellum; ISS:UniProtKB. # GO_component GO:0043005 neuron projection; IEA:Ensembl. # GO_component GO:0043231 intracellular membrane-bounded organelle; IBA:GO_Central. # GO_component GO:0043234 protein complex; ISS:BHF-UCL. # GO_component GO:0097228 sperm principal piece; IEA:Ensembl. # GO_function GO:0005388 calcium-transporting ATPase activity; IMP:BHF-UCL. # GO_function GO:0005516 calmodulin binding; IDA:BHF-UCL. # GO_function GO:0005524 ATP binding; IEA:UniProtKB-KW. # GO_function GO:0030165 PDZ domain binding; IBA:GO_Central. # GO_function GO:0030346 protein phosphatase 2B binding; IDA:BHF-UCL. # GO_function GO:0036487 nitric-oxide synthase inhibitor activity; IDA:BHF-UCL. # GO_function GO:0046872 metal ion binding; IEA:UniProtKB-KW. # GO_function GO:0050998 nitric-oxide synthase binding; IPI:BHF-UCL. # GO_function GO:0097110 scaffold protein binding; ISS:BHF-UCL. # GO_process GO:0003407 neural retina development; IEA:Ensembl. # GO_process GO:0006357 regulation of transcription from RNA polymerase II promoter; IMP:BHF-UCL. # GO_process GO:0006874 cellular calcium ion homeostasis; ISS:UniProtKB. # GO_process GO:0007283 spermatogenesis; IEA:Ensembl. # GO_process GO:0010751 negative regulation of nitric oxide mediated signal transduction; IDA:BHF-UCL. # GO_process GO:0021766 hippocampus development; IEA:Ensembl. # GO_process GO:0030317 flagellated sperm motility; ISS:UniProtKB. # GO_process GO:0033138 positive regulation of peptidyl-serine phosphorylation; IDA:BHF-UCL. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0045019 negative regulation of nitric oxide biosynthetic process; IDA:BHF-UCL. # GO_process GO:0051001 negative regulation of nitric-oxide synthase activity; IDA:BHF-UCL. # GO_process GO:0051599 response to hydrostatic pressure; IMP:BHF-UCL. # GO_process GO:0070588 calcium ion transmembrane transport; IMP:BHF-UCL. # GO_process GO:0070885 negative regulation of calcineurin-NFAT signaling cascade; IDA:BHF-UCL. # GO_process GO:0071872 cellular response to epinephrine stimulus; IDA:BHF-UCL. # GO_process GO:0097553 calcium ion transmembrane import into cytosol; IC:BHF-UCL. # GO_process GO:0098703 calcium ion import across plasma membrane; IC:BHF-UCL. # GO_process GO:0098736 negative regulation of the force of heart contraction; IDA:BHF-UCL. # GO_process GO:1900082 negative regulation of arginine catabolic process; IDA:BHF-UCL. # GO_process GO:1901205 negative regulation of adrenergic receptor signaling pathway involved in heart process; IDA:BHF-UCL. # GO_process GO:1901660 calcium ion export; IEA:Ensembl. # GO_process GO:1902083 negative regulation of peptidyl-cysteine S-nitrosylation; NAS:BHF-UCL. # GO_process GO:1902305 regulation of sodium ion transmembrane transport; IC:BHF-UCL. # GO_process GO:1902806 regulation of cell cycle G1/S phase transition; IMP:CACAO. # GO_process GO:1903243 negative regulation of cardiac muscle hypertrophy in response to stress; IMP:BHF-UCL. # GO_process GO:1903249 negative regulation of citrulline biosynthetic process; IDA:BHF-UCL. # GO_process GO:1903779 regulation of cardiac conduction; TAS:Reactome. # GO_process GO:2000481 positive regulation of cAMP-dependent protein kinase activity; IDA:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0005929 cilium # GOslim_component GO:0043226 organelle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0019899 enzyme binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0030234 enzyme regulator activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0048870 cell motility # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.20.1110.10 -; 3. # Genevisible P23634 HS # HGNC HGNC:817 ATP2B4 # INTERACTION AT2B4_HUMAN P01258 CALCA; NbExp=2; IntAct=EBI-1174388, EBI-1018474; Q63622 Dlg2 (xeno); NbExp=2; IntAct=EBI-1174437, EBI-396947; Q62936 Dlg3 (xeno); NbExp=2; IntAct=EBI-1174437, EBI-349596; # IntAct P23634 22 # InterPro IPR001757 P_typ_ATPase # InterPro IPR004014 ATPase_P-typ_cation-transptr_N # InterPro IPR006068 ATPase_P-typ_cation-transptr_C # InterPro IPR006408 P-type_ATPase_IIB # InterPro IPR008250 ATPase_P-typ_transduc_dom_A # InterPro IPR018303 ATPase_P-typ_P_site # InterPro IPR022141 ATP_Ca_trans_C # InterPro IPR023214 HAD-like_dom # InterPro IPR023298 ATPase_P-typ_TM_dom # InterPro IPR023299 ATPase_P-typ_cyto_domN # InterPro IPR030319 ATP2B1/4 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko01000 Enzymes # KEGG_Pathway ko04020 Calcium signaling pathway # KEGG_Pathway ko04970 Salivary secretion # KEGG_Pathway ko04972 Pancreatic secretion # MIM 108732 gene # Organism AT2B4_HUMAN Homo sapiens (Human) # PANTHER PTHR24093:SF276 PTHR24093:SF276; 2 # PDB 1CFF NMR; -; B=1086-1104 # PDB 2KNE NMR; -; B=1086-1149 # PIR A35547 A35547 # PROSITE PS00154 ATPASE_E1_E2 # Pfam PF00122 E1-E2_ATPase; 2 # Pfam PF00689 Cation_ATPase_C # Pfam PF00690 Cation_ATPase_N # Pfam PF12424 ATP_Ca_trans_C; 2 # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-418359 Reduction of cytosolic Ca++ levels # Reactome R-HSA-5578775 Ion homeostasis # Reactome R-HSA-936837 Ion transport by P-type ATPases # RecName Plasma membrane calcium-transporting ATPase 4 {ECO 0000305} # RefSeq NP_001001396 NM_001001396.2. [P23634-2] # RefSeq NP_001675 NM_001684.4. [P23634-6] # SIMILARITY Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIB subfamily. {ECO 0000305}. # SMART SM00831 Cation_ATPase_N # SUBCELLULAR LOCATION AT2B4_HUMAN Cell membrane {ECO 0000269|PubMed 2137451}; Multi-pass membrane protein {ECO 0000255}. Cell projection, cilium, flagellum membrane {ECO 0000250|UniProtKB Q6Q477}; Multi- pass membrane protein {ECO 0000255}. # SUBUNIT AT2B4_HUMAN Interacts with PDZD11 (PubMed 12763866). Interacts with SLC35G1 and STIM1 (PubMed 22084111). Interacts with calmodulin (PubMed 2963820, PubMed 10493800). {ECO 0000269|PubMed 10493800, ECO 0000269|PubMed 12763866, ECO 0000269|PubMed 22084111, ECO 0000269|PubMed 2963820}. # SUPFAM SSF56784 SSF56784; 2 # SUPFAM SSF81660 SSF81660 # TCDB 3.A.3.2 the p-type atpase (p-atpase) superfamily # TIGRFAMs TIGR01494 ATPase_P-type; 3 # TIGRFAMs TIGR01517 ATPase-IIB_Ca # TISSUE SPECIFICITY Isoform XB is the most abundant isoform and is expressed ubiquitously. Isoforms containing segment Z have only been detected in heart, while isoforms containing segment a have been found in heart, stomach and brain cortex. {ECO:0000269|PubMed 1531651}. # UCSC uc001gzv human. [P23634-1] # eggNOG ENOG410XNNC LUCA # eggNOG KOG0204 Eukaryota BLAST swissprot:AT2B4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:AT2B4_HUMAN BioCyc ZFISH:HS00723-MONOMER http://biocyc.org/getid?id=ZFISH:HS00723-MONOMER COXPRESdb 493 http://coxpresdb.jp/data/gene/493.shtml CleanEx HS_ATP2B2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ATP2B2 CleanEx HS_ATP2B4 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ATP2B4 DIP DIP-6128N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-6128N DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1007/BF00229314 http://dx.doi.org/10.1007/BF00229314 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/bi9908235 http://dx.doi.org/10.1021/bi9908235 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1073/pnas.1117231108 http://dx.doi.org/10.1073/pnas.1117231108 DOI 10.1073/pnas.85.9.2914 http://dx.doi.org/10.1073/pnas.85.9.2914 DOI 10.1074/jbc.270.50.30111 http://dx.doi.org/10.1074/jbc.270.50.30111 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1749-6632.2003.tb07230.x http://dx.doi.org/10.1111/j.1749-6632.2003.tb07230.x DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EC_number EC:3.6.3.8 {ECO:0000269|PubMed:8530416} http://www.genome.jp/dbget-bin/www_bget?EC:3.6.3.8 {ECO:0000269|PubMed:8530416} EMBL AC114402 http://www.ebi.ac.uk/ena/data/view/AC114402 EMBL AC114402 http://www.ebi.ac.uk/ena/data/view/AC114402 EMBL AL513343 http://www.ebi.ac.uk/ena/data/view/AL513343 EMBL AL513343 http://www.ebi.ac.uk/ena/data/view/AL513343 EMBL BC140774 http://www.ebi.ac.uk/ena/data/view/BC140774 EMBL BX537444 http://www.ebi.ac.uk/ena/data/view/BX537444 EMBL CH471067 http://www.ebi.ac.uk/ena/data/view/CH471067 EMBL CH471067 http://www.ebi.ac.uk/ena/data/view/CH471067 EMBL M25874 http://www.ebi.ac.uk/ena/data/view/M25874 EMBL M83363 http://www.ebi.ac.uk/ena/data/view/M83363 EMBL U42026 http://www.ebi.ac.uk/ena/data/view/U42026 EMBL U42061 http://www.ebi.ac.uk/ena/data/view/U42061 EMBL U42062 http://www.ebi.ac.uk/ena/data/view/U42062 EMBL U42378 http://www.ebi.ac.uk/ena/data/view/U42378 ENZYME 3.6.3.8 {ECO:0000269|PubMed:8530416} http://enzyme.expasy.org/EC/3.6.3.8 {ECO:0000269|PubMed:8530416} Ensembl ENST00000341360 http://www.ensembl.org/id/ENST00000341360 Ensembl ENST00000357681 http://www.ensembl.org/id/ENST00000357681 Ensembl ENST00000367218 http://www.ensembl.org/id/ENST00000367218 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0005901 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005901 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016323 GO_component GO:0030018 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030018 GO_component GO:0030315 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030315 GO_component GO:0036126 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0036126 GO_component GO:0043005 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043005 GO_component GO:0043231 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043231 GO_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GO_component GO:0097228 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097228 GO_function GO:0005388 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005388 GO_function GO:0005516 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005516 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0030165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030165 GO_function GO:0030346 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030346 GO_function GO:0036487 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0036487 GO_function GO:0046872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046872 GO_function GO:0050998 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050998 GO_function GO:0097110 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097110 GO_process GO:0003407 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003407 GO_process GO:0006357 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006357 GO_process GO:0006874 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006874 GO_process GO:0007283 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007283 GO_process GO:0010751 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010751 GO_process GO:0021766 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021766 GO_process GO:0030317 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030317 GO_process GO:0033138 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033138 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0045019 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045019 GO_process GO:0051001 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051001 GO_process GO:0051599 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051599 GO_process GO:0070588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070588 GO_process GO:0070885 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070885 GO_process GO:0071872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071872 GO_process GO:0097553 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097553 GO_process GO:0098703 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0098703 GO_process GO:0098736 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0098736 GO_process GO:1900082 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1900082 GO_process GO:1901205 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1901205 GO_process GO:1901660 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1901660 GO_process GO:1902083 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902083 GO_process GO:1902305 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902305 GO_process GO:1902806 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902806 GO_process GO:1903243 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903243 GO_process GO:1903249 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903249 GO_process GO:1903779 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903779 GO_process GO:2000481 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000481 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0005929 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005929 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0030234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030234 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0048870 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048870 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.20.1110.10 http://www.cathdb.info/version/latest/superfamily/1.20.1110.10 GeneCards ATP2B4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ATP2B4 GeneID 493 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=493 GeneTree ENSGT00510000046331 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00510000046331 HGNC HGNC:817 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:817 HOVERGEN HBG061286 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG061286&db=HOVERGEN HPA CAB016118 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB016118 HPA HPA040431 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA040431 InParanoid P23634 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P23634 IntAct P23634 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P23634* IntEnz 3.6.3.8 {ECO:0000269|PubMed:8530416} http://www.ebi.ac.uk/intenz/query?cmd=Search&q=3.6.3.8 {ECO:0000269|PubMed:8530416} InterPro IPR001757 http://www.ebi.ac.uk/interpro/entry/IPR001757 InterPro IPR004014 http://www.ebi.ac.uk/interpro/entry/IPR004014 InterPro IPR006068 http://www.ebi.ac.uk/interpro/entry/IPR006068 InterPro IPR006408 http://www.ebi.ac.uk/interpro/entry/IPR006408 InterPro IPR008250 http://www.ebi.ac.uk/interpro/entry/IPR008250 InterPro IPR018303 http://www.ebi.ac.uk/interpro/entry/IPR018303 InterPro IPR022141 http://www.ebi.ac.uk/interpro/entry/IPR022141 InterPro IPR023214 http://www.ebi.ac.uk/interpro/entry/IPR023214 InterPro IPR023298 http://www.ebi.ac.uk/interpro/entry/IPR023298 InterPro IPR023299 http://www.ebi.ac.uk/interpro/entry/IPR023299 InterPro IPR030319 http://www.ebi.ac.uk/interpro/entry/IPR030319 Jabion 493 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=493 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Gene hsa:493 http://www.genome.jp/dbget-bin/www_bget?hsa:493 KEGG_Orthology KO:K05850 http://www.genome.jp/dbget-bin/www_bget?KO:K05850 KEGG_Pathway ko04020 http://www.genome.jp/kegg-bin/show_pathway?ko04020 KEGG_Pathway ko04970 http://www.genome.jp/kegg-bin/show_pathway?ko04970 KEGG_Pathway ko04972 http://www.genome.jp/kegg-bin/show_pathway?ko04972 MIM 108732 http://www.ncbi.nlm.nih.gov/omim/108732 MINT MINT-219327 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-219327 OMA LNNNVFI http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=LNNNVFI PANTHER PTHR24093:SF276 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24093:SF276 PDB 1CFF http://www.ebi.ac.uk/pdbe-srv/view/entry/1CFF PDB 2KNE http://www.ebi.ac.uk/pdbe-srv/view/entry/2KNE PDBsum 1CFF http://www.ebi.ac.uk/pdbsum/1CFF PDBsum 2KNE http://www.ebi.ac.uk/pdbsum/2KNE PROSITE PS00154 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00154 PSORT swissprot:AT2B4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:AT2B4_HUMAN PSORT-B swissprot:AT2B4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:AT2B4_HUMAN PSORT2 swissprot:AT2B4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:AT2B4_HUMAN Pfam PF00122 http://pfam.xfam.org/family/PF00122 Pfam PF00689 http://pfam.xfam.org/family/PF00689 Pfam PF00690 http://pfam.xfam.org/family/PF00690 Pfam PF12424 http://pfam.xfam.org/family/PF12424 PharmGKB PA25110 http://www.pharmgkb.org/do/serve?objId=PA25110&objCls=Gene Phobius swissprot:AT2B4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:AT2B4_HUMAN PhylomeDB P23634 http://phylomedb.org/?seqid=P23634 ProteinModelPortal P23634 http://www.proteinmodelportal.org/query/uniprot/P23634 PubMed 10493800 http://www.ncbi.nlm.nih.gov/pubmed/10493800 PubMed 12763866 http://www.ncbi.nlm.nih.gov/pubmed/12763866 PubMed 1531651 http://www.ncbi.nlm.nih.gov/pubmed/1531651 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 2137451 http://www.ncbi.nlm.nih.gov/pubmed/2137451 PubMed 22084111 http://www.ncbi.nlm.nih.gov/pubmed/22084111 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 2963820 http://www.ncbi.nlm.nih.gov/pubmed/2963820 PubMed 2966397 http://www.ncbi.nlm.nih.gov/pubmed/2966397 PubMed 7989379 http://www.ncbi.nlm.nih.gov/pubmed/7989379 PubMed 8245032 http://www.ncbi.nlm.nih.gov/pubmed/8245032 PubMed 8530416 http://www.ncbi.nlm.nih.gov/pubmed/8530416 PubMed 8700162 http://www.ncbi.nlm.nih.gov/pubmed/8700162 Reactome R-HSA-418359 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-418359 Reactome R-HSA-5578775 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5578775 Reactome R-HSA-936837 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-936837 RefSeq NP_001001396 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001001396 RefSeq NP_001675 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001675 SMART SM00831 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00831 SMR P23634 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P23634 STRING 9606.ENSP00000350310 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000350310&targetmode=cogs SUPFAM SSF56784 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF56784 SUPFAM SSF81660 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81660 TCDB 3.A.3.2 http://www.tcdb.org/search/result.php?tc=3.A.3.2 TIGRFAMs TIGR01494 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01494 TIGRFAMs TIGR01517 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01517 UCSC uc001gzv http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001gzv&org=rat UniGene Hs.343522 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.343522 UniGene Hs.733333 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.733333 UniProtKB AT2B4_HUMAN http://www.uniprot.org/uniprot/AT2B4_HUMAN UniProtKB-AC P23634 http://www.uniprot.org/uniprot/P23634 charge swissprot:AT2B4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:AT2B4_HUMAN eggNOG ENOG410XNNC http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XNNC eggNOG KOG0204 http://eggnogapi.embl.de/nog_data/html/tree/KOG0204 epestfind swissprot:AT2B4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:AT2B4_HUMAN garnier swissprot:AT2B4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:AT2B4_HUMAN helixturnhelix swissprot:AT2B4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:AT2B4_HUMAN hmoment swissprot:AT2B4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:AT2B4_HUMAN iep swissprot:AT2B4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:AT2B4_HUMAN inforesidue swissprot:AT2B4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:AT2B4_HUMAN neXtProt NX_P23634 http://www.nextprot.org/db/entry/NX_P23634 octanol swissprot:AT2B4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:AT2B4_HUMAN pepcoil swissprot:AT2B4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:AT2B4_HUMAN pepdigest swissprot:AT2B4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:AT2B4_HUMAN pepinfo swissprot:AT2B4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:AT2B4_HUMAN pepnet swissprot:AT2B4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:AT2B4_HUMAN pepstats swissprot:AT2B4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:AT2B4_HUMAN pepwheel swissprot:AT2B4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:AT2B4_HUMAN pepwindow swissprot:AT2B4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:AT2B4_HUMAN sigcleave swissprot:AT2B4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:AT2B4_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S35B3_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9H1N7-1; Sequence=Displayed; Name=2; IsoId=Q9H1N7-2; Sequence=VSP_016193, VSP_016194; Note=No experimental confirmation available.; Name=3; IsoId=Q9H1N7-3; Sequence=VSP_016195, VSP_016196; Note=No experimental confirmation available.; # AltName S35B3_HUMAN 3'-phosphoadenosine 5'-phosphosulfate transporter # AltName S35B3_HUMAN PAPS transporter 2 # AltName S35B3_HUMAN Solute carrier family 35 member B3 # BIOPHYSICOCHEMICAL PROPERTIES Kinetic parameters: KM=2.2 uM for PAPS {ECO 0000269|PubMed:16492677}; # BioGrid 119208 2 # CCDS CCDS4508 -. [Q9H1N7-1] # ChiTaRS SLC35B3 human # Ensembl ENST00000379660 ENSP00000368981; ENSG00000124786. [Q9H1N7-1] # ExpressionAtlas Q9H1N7 baseline and differential # FUNCTION S35B3_HUMAN Mediates the transport of adenosine 3'-phospho 5'- phosphosulfate (PAPS), from cytosol into Golgi. PAPS is a universal sulfuryl donor for sulfation events that take place in the Golgi. Compensates for the insufficient expression of SLC35B2/PAPST1 during the synthesis of sulfated glycoconjugates in the colon. {ECO 0000269|PubMed 16492677}. # GO_component GO:0000139 Golgi membrane; TAS:Reactome. # GO_component GO:0030173 integral component of Golgi membrane; IBA:GO_Central. # GO_component GO:0030176 integral component of endoplasmic reticulum membrane; IBA:GO_Central. # GO_function GO:0046964 3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity; IBA:GO_Central. # GO_process GO:0050428 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006790 sulfur compound metabolic process # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0044281 small molecule metabolic process # Genevisible Q9H1N7 HS # HGNC HGNC:21601 SLC35B3 # InterPro IPR013657 UAA # KEGG_Brite ko02001 Solute carrier family # MIM 610845 gene # Organism S35B3_HUMAN Homo sapiens (Human) # Pfam PF08449 UAA # Proteomes UP000005640 Chromosome 6 # Reactome R-HSA-174362 Transport and synthesis of PAPS # Reactome R-HSA-727802 Transport of nucleotide sugars # RecName S35B3_HUMAN Adenosine 3'-phospho 5'-phosphosulfate transporter 2 # RefSeq NP_001136013 NM_001142541.2. [Q9H1N7-1] # RefSeq NP_057032 NM_015948.4. [Q9H1N7-1] # RefSeq XP_005249214 XM_005249157.2. [Q9H1N7-1] # RefSeq XP_006715165 XM_006715102.3. [Q9H1N7-1] # RefSeq XP_016866399 XM_017010910.1. [Q9H1N7-1] # RefSeq XP_016866400 XM_017010911.1. [Q9H1N7-1] # SEQUENCE CAUTION Sequence=AAD27728.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305}; Sequence=CAE46041.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the nucleotide-sugar transporter family. SLC35B subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION S35B3_HUMAN Golgi apparatus membrane {ECO 0000269|PubMed 16492677}; Multi-pass membrane protein {ECO 0000269|PubMed 16492677}. # TCDB 2.A.7.11 the drug/metabolite transporter (dmt) superfamily # TISSUE SPECIFICITY Preferentially and highly expressed in colon. {ECO:0000269|PubMed 16492677}. # UCSC uc003myb human. [Q9H1N7-1] # eggNOG COG0697 LUCA # eggNOG KOG1582 Eukaryota BLAST swissprot:S35B3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S35B3_HUMAN BioCyc ZFISH:ENSG00000124786-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000124786-MONOMER COXPRESdb 51000 http://coxpresdb.jp/data/gene/51000.shtml CleanEx HS_SLC35B3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC35B3 DOI 10.1038/nature02055 http://dx.doi.org/10.1038/nature02055 DOI 10.1074/jbc.M508991200 http://dx.doi.org/10.1074/jbc.M508991200 DOI 10.1101/gr.10.5.703 http://dx.doi.org/10.1101/gr.10.5.703 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 EMBL AB231931 http://www.ebi.ac.uk/ena/data/view/AB231931 EMBL AF132953 http://www.ebi.ac.uk/ena/data/view/AF132953 EMBL AL355815 http://www.ebi.ac.uk/ena/data/view/AL355815 EMBL BC006973 http://www.ebi.ac.uk/ena/data/view/BC006973 EMBL BX538271 http://www.ebi.ac.uk/ena/data/view/BX538271 EMBL BX641086 http://www.ebi.ac.uk/ena/data/view/BX641086 Ensembl ENST00000379660 http://www.ensembl.org/id/ENST00000379660 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000139 GO_component GO:0030173 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030173 GO_component GO:0030176 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030176 GO_function GO:0046964 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046964 GO_process GO:0050428 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050428 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006790 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006790 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GeneCards SLC35B3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC35B3 GeneID 51000 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=51000 GeneTree ENSGT00530000063090 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000063090 HGNC HGNC:21601 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:21601 HOGENOM HOG000006136 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000006136&db=HOGENOM6 HOVERGEN HBG066829 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG066829&db=HOVERGEN HPA HPA054661 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA054661 HPA HPA057801 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA057801 IntAct Q9H1N7 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9H1N7* InterPro IPR013657 http://www.ebi.ac.uk/interpro/entry/IPR013657 Jabion 51000 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=51000 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:51000 http://www.genome.jp/dbget-bin/www_bget?hsa:51000 KEGG_Orthology KO:K15277 http://www.genome.jp/dbget-bin/www_bget?KO:K15277 MIM 610845 http://www.ncbi.nlm.nih.gov/omim/610845 OMA FTFQYIW http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=FTFQYIW OrthoDB EOG091G0CL7 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0CL7 PSORT swissprot:S35B3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S35B3_HUMAN PSORT-B swissprot:S35B3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S35B3_HUMAN PSORT2 swissprot:S35B3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S35B3_HUMAN Pfam PF08449 http://pfam.xfam.org/family/PF08449 PharmGKB PA134889889 http://www.pharmgkb.org/do/serve?objId=PA134889889&objCls=Gene Phobius swissprot:S35B3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S35B3_HUMAN PhylomeDB Q9H1N7 http://phylomedb.org/?seqid=Q9H1N7 ProteinModelPortal Q9H1N7 http://www.proteinmodelportal.org/query/uniprot/Q9H1N7 PubMed 10810093 http://www.ncbi.nlm.nih.gov/pubmed/10810093 PubMed 14574404 http://www.ncbi.nlm.nih.gov/pubmed/14574404 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16492677 http://www.ncbi.nlm.nih.gov/pubmed/16492677 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 Reactome R-HSA-174362 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-174362 Reactome R-HSA-727802 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-727802 RefSeq NP_001136013 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001136013 RefSeq NP_057032 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_057032 RefSeq XP_005249214 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005249214 RefSeq XP_006715165 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006715165 RefSeq XP_016866399 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016866399 RefSeq XP_016866400 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016866400 STRING 9606.ENSP00000368981 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000368981&targetmode=cogs TCDB 2.A.7.11 http://www.tcdb.org/search/result.php?tc=2.A.7.11 UCSC uc003myb http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003myb&org=rat UniGene Hs.285847 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.285847 UniProtKB S35B3_HUMAN http://www.uniprot.org/uniprot/S35B3_HUMAN UniProtKB-AC Q9H1N7 http://www.uniprot.org/uniprot/Q9H1N7 charge swissprot:S35B3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S35B3_HUMAN eggNOG COG0697 http://eggnogapi.embl.de/nog_data/html/tree/COG0697 eggNOG KOG1582 http://eggnogapi.embl.de/nog_data/html/tree/KOG1582 epestfind swissprot:S35B3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S35B3_HUMAN garnier swissprot:S35B3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S35B3_HUMAN helixturnhelix swissprot:S35B3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S35B3_HUMAN hmoment swissprot:S35B3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S35B3_HUMAN iep swissprot:S35B3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S35B3_HUMAN inforesidue swissprot:S35B3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S35B3_HUMAN neXtProt NX_Q9H1N7 http://www.nextprot.org/db/entry/NX_Q9H1N7 octanol swissprot:S35B3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S35B3_HUMAN pepcoil swissprot:S35B3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S35B3_HUMAN pepdigest swissprot:S35B3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S35B3_HUMAN pepinfo swissprot:S35B3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S35B3_HUMAN pepnet swissprot:S35B3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S35B3_HUMAN pepstats swissprot:S35B3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S35B3_HUMAN pepwheel swissprot:S35B3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S35B3_HUMAN pepwindow swissprot:S35B3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S35B3_HUMAN sigcleave swissprot:S35B3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S35B3_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS MRP6_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=O95255-1; Sequence=Displayed; Name=2; Synonyms=URG7; IsoId=O95255-2; Sequence=VSP_047315, VSP_047316; Name=3; Synonyms=Delta19Delta24; IsoId=O95255-3; Sequence=VSP_057077, VSP_057078; Note=May function as a a half transporter.; # AltName MRP6_HUMAN ATP-binding cassette sub-family C member 6 # AltName MRP6_HUMAN Anthracycline resistance-associated protein # AltName MRP6_HUMAN Multi-specific organic anion transporter E # BioGrid 106863 5 # CCDS CCDS10568 -. [O95255-1] # CCDS CCDS58430 -. [O95255-2] # ChiTaRS ABCC6 human # DISEASE MRP6_HUMAN Arterial calcification of infancy, generalized, 2 (GACI2) [MIM 614473] A severe autosomal recessive disorder characterized by calcification of the internal elastic lamina of muscular arteries and stenosis due to myointimal proliferation. The disorder is often fatal within the first 6 months of life because of myocardial ischemia resulting in refractory heart failure. {ECO 0000269|PubMed 22209248}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE MRP6_HUMAN Pseudoxanthoma elasticum (PXE) [MIM 264800] A multisystem disorder characterized by accumulation of mineralized and fragmented elastic fibers in the skin, vascular walls, and Burch membrane in the eye. Clinically, patients exhibit characteristic lesions of the posterior segment of the eye including peau d'orange, angioid streaks, and choroidal neovascularizations, of the skin including soft, ivory colored papules in a reticular pattern that predominantly affect the neck and large flexor surfaces, and of the cardiovascular system with peripheral and coronary arterial occlusive disease as well as gastrointestinal bleedings. {ECO 0000269|PubMed 10811882, ECO 0000269|PubMed 10835642, ECO 0000269|PubMed 10954200, ECO 0000269|PubMed 11427982, ECO 0000269|PubMed 11536079, ECO 0000269|PubMed 11702217, ECO 0000269|PubMed 15086542, ECO 0000269|PubMed 15098239, ECO 0000269|PubMed 15459974, ECO 0000269|PubMed 16086317, ECO 0000269|PubMed 17617515, ECO 0000269|PubMed 19339160, ECO 0000269|PubMed 20034067, ECO 0000269|PubMed 25615550}. Note=The disease is caused by mutations affecting the gene represented in this entry. Homozygous or compound heterozygous ABCC6 mutations have been found in the overwhelming majority of cases. Individuals carrying heterozygous mutations express limited manifestations of the pseudoxanthoma elasticum phenotype. # DrugBank DB00328 Indomethacin # DrugBank DB00444 Teniposide # DrugBank DB00515 Cisplatin # DrugBank DB00570 Vinblastine # DrugBank DB00694 Daunorubicin # DrugBank DB00773 Etoposide # DrugBank DB00970 Dactinomycin # DrugBank DB00997 Doxorubicin # DrugBank DB01032 Probenecid # DrugBank DB01138 Sulfinpyrazone # Ensembl ENST00000205557 ENSP00000205557; ENSG00000091262. [O95255-1] # Ensembl ENST00000456970 ENSP00000405002; ENSG00000091262. [O95255-3] # Ensembl ENST00000575728 ENSP00000461686; ENSG00000091262. [O95255-2] # Ensembl ENST00000600761 ENSP00000481979; ENSG00000275331. [O95255-2] # Ensembl ENST00000622290 ENSP00000483331; ENSG00000091262. [O95255-3] # ExpressionAtlas O95255 baseline and differential # FUNCTION MRP6_HUMAN Isoform 1 May participate directly in the active transport of drugs into subcellular organelles or influence drug distribution indirectly. Transports glutathione conjugates as leukotriene-c4 (LTC4) and N-ethylmaleimide S-glutathione (NEM-GS). {ECO 0000269|PubMed 11880368}. # FUNCTION MRP6_HUMAN Isoform 2 Inhibits TNF-alpha-mediated apoptosis through blocking one or more caspases. {ECO 0000269|PubMed 23912081}. # GO_component GO:0005634 nucleus; IDA:HPA. # GO_component GO:0005789 endoplasmic reticulum membrane; IEA:UniProtKB-SubCell. # GO_component GO:0005886 plasma membrane; IDA:HPA. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0016323 basolateral plasma membrane; IEA:UniProtKB-SubCell. # GO_component GO:0016324 apical plasma membrane; IEA:Ensembl. # GO_component GO:0016328 lateral plasma membrane; IEA:Ensembl. # GO_function GO:0005215 transporter activity; TAS:ProtInc. # GO_function GO:0005524 ATP binding; TAS:ProtInc. # GO_function GO:0042626 ATPase activity, coupled to transmembrane movement of substances; TAS:ProtInc. # GO_function GO:0043225 ATPase-coupled anion transmembrane transporter activity; TAS:Reactome. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0007601 visual perception; IEA:UniProtKB-KW. # GO_process GO:0042493 response to drug; TAS:ProtInc. # GO_process GO:0055085 transmembrane transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0050877 neurological system process # GOslim_process GO:0055085 transmembrane transport # Gene3D 3.40.50.300 -; 2. # Genevisible O95255 HS # HGNC HGNC:57 ABCC6 # INDUCTION Isoform 2 is induced by HBV x antigen upon hepatitis B viral infection. {ECO:0000269|PubMed 23912081}. # IntAct O95255 5 # InterPro IPR003439 ABC_transporter-like # InterPro IPR003593 AAA+_ATPase # InterPro IPR005292 Multidrug-R_assoc # InterPro IPR011527 ABC1_TM_dom # InterPro IPR017871 ABC_transporter_CS # InterPro IPR027417 P-loop_NTPase # InterPro IPR030239 ABCC6 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02000 Transporters # KEGG_Disease H00560 [Developmental disorder; Skin and connective tissue disease] Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency # KEGG_Disease H01002 [Cardiovascular Disease] Generalized arterial calcification of infancy # KEGG_Pathway ko02010 ABC transporters # MIM 264800 phenotype # MIM 603234 gene # MIM 614473 phenotype # Organism MRP6_HUMAN Homo sapiens (Human) # Orphanet 51608 Generalized arterial calcification of infancy # Orphanet 758 Pseudoxanthoma elasticum # PANTHER PTHR24223:SF226 PTHR24223:SF226; 2 # PROSITE PS00211 ABC_TRANSPORTER_1; 2 # PROSITE PS50893 ABC_TRANSPORTER_2; 2 # PROSITE PS50929 ABC_TM1F; 2 # Pfam PF00005 ABC_tran; 2 # Pfam PF00664 ABC_membrane; 2 # Proteomes UP000005640 Chromosome 16 # Reactome R-HSA-382556 ABC-family proteins mediated transport # RecName MRP6_HUMAN Multidrug resistance-associated protein 6 # RefSeq NP_001072996 NM_001079528.3. [O95255-2] # RefSeq NP_001162 NM_001171.5 # SEQUENCE CAUTION Sequence=AAC15785.1; Type=Erroneous gene model prediction; Evidence={ECO 0000305}; # SIMILARITY Belongs to the ABC transporter superfamily. ABCC family. Conjugate transporter (TC 3.A.1.208) subfamily. {ECO 0000305}. # SIMILARITY Contains 2 ABC transmembrane type-1 domains. {ECO:0000255|PROSITE-ProRule PRU00441}. # SIMILARITY Contains 2 ABC transporter domains. {ECO:0000255|PROSITE-ProRule PRU00434}. # SMART SM00382 AAA; 2 # SUBCELLULAR LOCATION MRP6_HUMAN Isoform 1 Basolateral cell membrane {ECO 0000269|PubMed 12901863, ECO 0000269|PubMed 23625951}; Multi- pass membrane protein {ECO 0000255}. # SUBCELLULAR LOCATION MRP6_HUMAN Isoform 2 Endoplasmic reticulum membrane {ECO 0000269|PubMed 23912081}; Single-pass membrane protein {ECO 0000255}. # SUPFAM SSF52540 SSF52540; 2 # SUPFAM SSF90123 SSF90123; 2 # TCDB 3.A.1.208.10 the atp-binding cassette (abc) superfamily # TIGRFAMs TIGR00957 MRP_assoc_pro # TISSUE SPECIFICITY MRP6_HUMAN Expressed in kidney and liver. Very low expression in other tissues. # UCSC uc002den human. [O95255-1] # WEB RESOURCE MRP6_HUMAN Name=ABCMdb; Note=Database for mutations in ABC proteins; URL="http //abcmutations.hegelab.org/proteinDetails?uniprot_id=O95255"; # WEB RESOURCE MRP6_HUMAN Name=Mutations of the ABCC6 gene; Note=Retina International's Scientific Newsletter; URL="http //www.retina-international.org/files/sci-news/abcc6mut.htm"; # eggNOG COG1132 LUCA # eggNOG KOG0054 Eukaryota BLAST swissprot:MRP6_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:MRP6_HUMAN BioCyc ZFISH:ENSG00000091262-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000091262-MONOMER COXPRESdb 368 http://coxpresdb.jp/data/gene/368.shtml CleanEx HS_ABCC6 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ABCC6 DOI 10.1002/1098-1004(200011)16:5<449::AID-HUMU24>3.0.CO http://dx.doi.org/10.1002/1098-1004(200011)16:5<449::AID-HUMU24>3.0.CO DOI 10.1002/ajmg.a.20632 http://dx.doi.org/10.1002/ajmg.a.20632 DOI 10.1002/ajmg.a.33162 http://dx.doi.org/10.1002/ajmg.a.33162 DOI 10.1002/humu.20206 http://dx.doi.org/10.1002/humu.20206 DOI 10.1002/humu.9284 http://dx.doi.org/10.1002/humu.9284 DOI 10.1006/bbrc.2000.3101 http://dx.doi.org/10.1006/bbrc.2000.3101 DOI 10.1006/geno.1999.5927 http://dx.doi.org/10.1006/geno.1999.5927 DOI 10.1007/s001090000114 http://dx.doi.org/10.1007/s001090000114 DOI 10.1007/s004390100582 http://dx.doi.org/10.1007/s004390100582 DOI 10.1007/s100380170003 http://dx.doi.org/10.1007/s100380170003 DOI 10.1016/S0006-291X(03)01349-4 http://dx.doi.org/10.1016/S0006-291X(03)01349-4 DOI 10.1016/S1471-4914(00)01869-4 http://dx.doi.org/10.1016/S1471-4914(00)01869-4 DOI 10.1016/j.ajhg.2011.11.020 http://dx.doi.org/10.1016/j.ajhg.2011.11.020 DOI 10.1016/j.febslet.2013.07.042 http://dx.doi.org/10.1016/j.febslet.2013.07.042 DOI 10.1016/j.jdermsci.2009.02.008 http://dx.doi.org/10.1016/j.jdermsci.2009.02.008 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1038/76102 http://dx.doi.org/10.1038/76102 DOI 10.1038/jid.2015.10 http://dx.doi.org/10.1038/jid.2015.10 DOI 10.1038/nature03187 http://dx.doi.org/10.1038/nature03187 DOI 10.1038/nature07485 http://dx.doi.org/10.1038/nature07485 DOI 10.1038/sj.bjc.6690527 http://dx.doi.org/10.1038/sj.bjc.6690527 DOI 10.1053/jhep.2001.25545 http://dx.doi.org/10.1053/jhep.2001.25545 DOI 10.1073/pnas.100041297 http://dx.doi.org/10.1073/pnas.100041297 DOI 10.1074/jbc.M110918200 http://dx.doi.org/10.1074/jbc.M110918200 DOI 10.1086/323704 http://dx.doi.org/10.1086/323704 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.0022-202X.2004.22312.x http://dx.doi.org/10.1111/j.0022-202X.2004.22312.x DOI 10.1136/jmg.2007.051094 http://dx.doi.org/10.1136/jmg.2007.051094 DOI 10.1155/2008/912478 http://dx.doi.org/10.1155/2008/912478 DOI 10.1161/CIRCRESAHA.111.300194 http://dx.doi.org/10.1161/CIRCRESAHA.111.300194 DrugBank DB00328 http://www.drugbank.ca/drugs/DB00328 DrugBank DB00444 http://www.drugbank.ca/drugs/DB00444 DrugBank DB00515 http://www.drugbank.ca/drugs/DB00515 DrugBank DB00570 http://www.drugbank.ca/drugs/DB00570 DrugBank DB00694 http://www.drugbank.ca/drugs/DB00694 DrugBank DB00773 http://www.drugbank.ca/drugs/DB00773 DrugBank DB00970 http://www.drugbank.ca/drugs/DB00970 DrugBank DB00997 http://www.drugbank.ca/drugs/DB00997 DrugBank DB01032 http://www.drugbank.ca/drugs/DB01032 DrugBank DB01138 http://www.drugbank.ca/drugs/DB01138 EMBL AC136624 http://www.ebi.ac.uk/ena/data/view/AC136624 EMBL AF076622 http://www.ebi.ac.uk/ena/data/view/AF076622 EMBL AF168791 http://www.ebi.ac.uk/ena/data/view/AF168791 EMBL AM711638 http://www.ebi.ac.uk/ena/data/view/AM711638 EMBL AM774324 http://www.ebi.ac.uk/ena/data/view/AM774324 EMBL AY078405 http://www.ebi.ac.uk/ena/data/view/AY078405 EMBL BC050733 http://www.ebi.ac.uk/ena/data/view/BC050733 EMBL BC131732 http://www.ebi.ac.uk/ena/data/view/BC131732 EMBL U91318 http://www.ebi.ac.uk/ena/data/view/U91318 Ensembl ENST00000205557 http://www.ensembl.org/id/ENST00000205557 Ensembl ENST00000456970 http://www.ensembl.org/id/ENST00000456970 Ensembl ENST00000575728 http://www.ensembl.org/id/ENST00000575728 Ensembl ENST00000600761 http://www.ensembl.org/id/ENST00000600761 Ensembl ENST00000622290 http://www.ensembl.org/id/ENST00000622290 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005789 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005789 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0016323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016323 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:0016328 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016328 GO_function GO:0005215 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005215 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0042626 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042626 GO_function GO:0043225 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043225 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0007601 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007601 GO_process GO:0042493 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042493 GO_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 3.40.50.300 http://www.cathdb.info/version/latest/superfamily/3.40.50.300 GeneCards ABCC6 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ABCC6 GeneID 368 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=368 GeneTree ENSGT00860000133687 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00860000133687 H-InvDB HIX0026937 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0026937 H-InvDB HIX0038600 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0038600 HGNC HGNC:57 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:57 HOVERGEN HBG108314 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG108314&db=HOVERGEN HPA HPA038105 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA038105 InParanoid O95255 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O95255 IntAct O95255 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O95255* InterPro IPR003439 http://www.ebi.ac.uk/interpro/entry/IPR003439 InterPro IPR003593 http://www.ebi.ac.uk/interpro/entry/IPR003593 InterPro IPR005292 http://www.ebi.ac.uk/interpro/entry/IPR005292 InterPro IPR011527 http://www.ebi.ac.uk/interpro/entry/IPR011527 InterPro IPR017871 http://www.ebi.ac.uk/interpro/entry/IPR017871 InterPro IPR027417 http://www.ebi.ac.uk/interpro/entry/IPR027417 InterPro IPR030239 http://www.ebi.ac.uk/interpro/entry/IPR030239 Jabion 368 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=368 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Disease H00560 http://www.genome.jp/dbget-bin/www_bget?H00560 KEGG_Disease H01002 http://www.genome.jp/dbget-bin/www_bget?H01002 KEGG_Gene hsa:368 http://www.genome.jp/dbget-bin/www_bget?hsa:368 KEGG_Orthology KO:K05669 http://www.genome.jp/dbget-bin/www_bget?KO:K05669 KEGG_Pathway ko02010 http://www.genome.jp/kegg-bin/show_pathway?ko02010 MIM 264800 http://www.ncbi.nlm.nih.gov/omim/264800 MIM 603234 http://www.ncbi.nlm.nih.gov/omim/603234 MIM 614473 http://www.ncbi.nlm.nih.gov/omim/614473 OMA LWADDPT http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=LWADDPT Orphanet 51608 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=51608 Orphanet 758 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=758 OrthoDB EOG091G00IN http://cegg.unige.ch/orthodb/results?searchtext=EOG091G00IN PANTHER PTHR24223:SF226 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24223:SF226 PROSITE PS00211 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00211 PROSITE PS50893 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50893 PROSITE PS50929 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50929 PSORT swissprot:MRP6_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:MRP6_HUMAN PSORT-B swissprot:MRP6_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:MRP6_HUMAN PSORT2 swissprot:MRP6_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:MRP6_HUMAN Pfam PF00005 http://pfam.xfam.org/family/PF00005 Pfam PF00664 http://pfam.xfam.org/family/PF00664 PharmGKB PA58 http://www.pharmgkb.org/do/serve?objId=PA58&objCls=Gene Phobius swissprot:MRP6_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:MRP6_HUMAN PhylomeDB O95255 http://phylomedb.org/?seqid=O95255 ProteinModelPortal O95255 http://www.proteinmodelportal.org/query/uniprot/O95255 PubMed 10424734 http://www.ncbi.nlm.nih.gov/pubmed/10424734 PubMed 10493829 http://www.ncbi.nlm.nih.gov/pubmed/10493829 PubMed 10811882 http://www.ncbi.nlm.nih.gov/pubmed/10811882 PubMed 10835642 http://www.ncbi.nlm.nih.gov/pubmed/10835642 PubMed 10913334 http://www.ncbi.nlm.nih.gov/pubmed/10913334 PubMed 10954200 http://www.ncbi.nlm.nih.gov/pubmed/10954200 PubMed 11058917 http://www.ncbi.nlm.nih.gov/pubmed/11058917 PubMed 11427982 http://www.ncbi.nlm.nih.gov/pubmed/11427982 PubMed 11431746 http://www.ncbi.nlm.nih.gov/pubmed/11431746 PubMed 11536079 http://www.ncbi.nlm.nih.gov/pubmed/11536079 PubMed 11702217 http://www.ncbi.nlm.nih.gov/pubmed/11702217 PubMed 11776382 http://www.ncbi.nlm.nih.gov/pubmed/11776382 PubMed 11880368 http://www.ncbi.nlm.nih.gov/pubmed/11880368 PubMed 12901863 http://www.ncbi.nlm.nih.gov/pubmed/12901863 PubMed 15086542 http://www.ncbi.nlm.nih.gov/pubmed/15086542 PubMed 15098239 http://www.ncbi.nlm.nih.gov/pubmed/15098239 PubMed 15459974 http://www.ncbi.nlm.nih.gov/pubmed/15459974 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15616553 http://www.ncbi.nlm.nih.gov/pubmed/15616553 PubMed 16086317 http://www.ncbi.nlm.nih.gov/pubmed/16086317 PubMed 17617515 http://www.ncbi.nlm.nih.gov/pubmed/17617515 PubMed 18987736 http://www.ncbi.nlm.nih.gov/pubmed/18987736 PubMed 19339160 http://www.ncbi.nlm.nih.gov/pubmed/19339160 PubMed 20034067 http://www.ncbi.nlm.nih.gov/pubmed/20034067 PubMed 21318057 http://www.ncbi.nlm.nih.gov/pubmed/21318057 PubMed 22209248 http://www.ncbi.nlm.nih.gov/pubmed/22209248 PubMed 23625951 http://www.ncbi.nlm.nih.gov/pubmed/23625951 PubMed 23912081 http://www.ncbi.nlm.nih.gov/pubmed/23912081 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 25615550 http://www.ncbi.nlm.nih.gov/pubmed/25615550 PubMed 9892204 http://www.ncbi.nlm.nih.gov/pubmed/9892204 Reactome R-HSA-382556 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-382556 RefSeq NP_001072996 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001072996 RefSeq NP_001162 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001162 SMART SM00382 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00382 STRING 9606.ENSP00000205557 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000205557&targetmode=cogs SUPFAM SSF52540 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52540 SUPFAM SSF90123 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF90123 TCDB 3.A.1.208.10 http://www.tcdb.org/search/result.php?tc=3.A.1.208.10 TIGRFAMs TIGR00957 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00957 UCSC uc002den http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002den&org=rat UniGene Hs.442182 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.442182 UniProtKB MRP6_HUMAN http://www.uniprot.org/uniprot/MRP6_HUMAN UniProtKB-AC O95255 http://www.uniprot.org/uniprot/O95255 charge swissprot:MRP6_HUMAN http://rest.g-language.org/emboss/charge/swissprot:MRP6_HUMAN eggNOG COG1132 http://eggnogapi.embl.de/nog_data/html/tree/COG1132 eggNOG KOG0054 http://eggnogapi.embl.de/nog_data/html/tree/KOG0054 epestfind swissprot:MRP6_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:MRP6_HUMAN garnier swissprot:MRP6_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:MRP6_HUMAN helixturnhelix swissprot:MRP6_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:MRP6_HUMAN hmoment swissprot:MRP6_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:MRP6_HUMAN iep swissprot:MRP6_HUMAN http://rest.g-language.org/emboss/iep/swissprot:MRP6_HUMAN inforesidue swissprot:MRP6_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:MRP6_HUMAN neXtProt NX_O95255 http://www.nextprot.org/db/entry/NX_O95255 octanol swissprot:MRP6_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:MRP6_HUMAN pepcoil swissprot:MRP6_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:MRP6_HUMAN pepdigest swissprot:MRP6_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:MRP6_HUMAN pepinfo swissprot:MRP6_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:MRP6_HUMAN pepnet swissprot:MRP6_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:MRP6_HUMAN pepstats swissprot:MRP6_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:MRP6_HUMAN pepwheel swissprot:MRP6_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:MRP6_HUMAN pepwindow swissprot:MRP6_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:MRP6_HUMAN sigcleave swissprot:MRP6_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:MRP6_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS 5HT3B_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O95264-1; Sequence=Displayed; Name=2; IsoId=O95264-2; Sequence=VSP_029796; # AltName 5HT3B_HUMAN Serotonin receptor 3B # CCDS CCDS8364 -. [O95264-1] # DrugBank DB00898 Ethanol # DrugBank DB01049 Ergoloid mesylate # Ensembl ENST00000260191 ENSP00000260191; ENSG00000149305. [O95264-1] # Ensembl ENST00000537778 ENSP00000443118; ENSG00000149305. [O95264-2] # ExpressionAtlas O95264 baseline and differential # FUNCTION 5HT3B_HUMAN This is one of the several different receptors for 5- hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor is a ligand-gated ion channel, which when activated causes fast, depolarizing responses. It is a cation-specific, but otherwise relatively nonselective, ion channel. {ECO 0000269|PubMed 12867984}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IEA:Ensembl. # GO_component GO:0009986 cell surface; IDA:CACAO. # GO_component GO:0045211 postsynaptic membrane; IEA:InterPro. # GO_component GO:1904602 serotonin-activated cation-selective channel complex; IGI:GO_Central. # GO_function GO:0005232 serotonin-activated cation-selective channel activity; IGI:GO_Central. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.20.120.370 -; 2. # Gene3D 2.70.170.10 -; 1. # Genevisible O95264 HS # HGNC HGNC:5298 HTR3B # InterPro IPR006029 Neurotrans-gated_channel_TM # InterPro IPR006201 Neur_channel # InterPro IPR006202 Neur_chan_lig-bd # InterPro IPR008132 5HT3_rcpt # InterPro IPR008134 5HT3_rcpt_B # InterPro IPR027361 Acetylcholine_rcpt_TM # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04726 Serotonergic synapse # MIM 604654 gene # MISCELLANEOUS 5HT3B_HUMAN The HA-stretch region of HTR3B seems to confer increased conductance to HTR3A/HTR3B heteromers compared to that of HTR3A homomers. # Organism 5HT3B_HUMAN Homo sapiens (Human) # PANTHER PTHR18945 PTHR18945 # PRINTS PR00252 NRIONCHANNEL # PRINTS PR01708 5HT3RECEPTOR # PRINTS PR01710 5HT3BRECEPTR # PTM 5HT3B_HUMAN N-glycosylation required for membrane localization. {ECO 0000269|PubMed 21138434}. # Pfam PF02931 Neur_chan_LBD # Pfam PF02932 Neur_chan_memb # Proteomes UP000005640 Chromosome 11 # Reactome R-HSA-975298 Ligand-gated ion channel transport # RecName 5HT3B_HUMAN 5-hydroxytryptamine receptor 3B # RefSeq NP_006019 NM_006028.4. [O95264-1] # RefSeq XP_011541365 XM_011543063.1. [O95264-2] # SIMILARITY Belongs to the ligand-gated ion channel (TC 1.A.9) family. 5-hydroxytryptamine receptor (TC 1.A.9.2) subfamily. HTR3B sub-subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION 5HT3B_HUMAN Cell membrane {ECO 0000269|PubMed 21138434}; Multi-pass membrane protein {ECO 0000269|PubMed 21138434}. Note=Presumably retained within the endoplasmic reticulum unless complexed with HTR3A. # SUBUNIT 5HT3B_HUMAN Forms a pentaheteromeric complex with HTR3A. Not functional as a homomeric complex. {ECO 0000269|PubMed 17392525, ECO 0000269|PubMed 9950429}. # SUPFAM SSF63712 SSF63712 # SUPFAM SSF90112 SSF90112 # TIGRFAMs TIGR00860 LIC # TISSUE SPECIFICITY 5HT3B_HUMAN Expressed in the brain cortex, in the caudate nucleus, the hyppocampus, the thalamus and the amygdala. Detected in the kidney and testis as well as in monocytes of the spleen, small and large intestine, uterus, prostate, ovary and placenta. {ECO 0000269|PubMed 10521471, ECO 0000269|PubMed 9950429}. # TopDownProteomics O95264-1 -. [O95264-1] # UCSC uc001pok human. [O95264-1] # eggNOG ENOG410XQGR LUCA # eggNOG KOG3645 Eukaryota BLAST swissprot:5HT3B_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:5HT3B_HUMAN BioCyc ZFISH:ENSG00000149305-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000149305-MONOMER COXPRESdb 9177 http://coxpresdb.jp/data/gene/9177.shtml CleanEx HS_HTR3B http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_HTR3B DOI 10.1002/ajmg.b.30070 http://dx.doi.org/10.1002/ajmg.b.30070 DOI 10.1007/s10067-004-0927-2 http://dx.doi.org/10.1007/s10067-004-0927-2 DOI 10.1016/j.biopsych.2005.11.008 http://dx.doi.org/10.1016/j.biopsych.2005.11.008 DOI 10.1016/j.gene.2006.08.002 http://dx.doi.org/10.1016/j.gene.2006.08.002 DOI 10.1038/16941 http://dx.doi.org/10.1038/16941 DOI 10.1038/nature01788 http://dx.doi.org/10.1038/nature01788 DOI 10.1038/nature09629 http://dx.doi.org/10.1038/nature09629 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.274.43.30799 http://dx.doi.org/10.1074/jbc.274.43.30799 DOI 10.1111/j.1471-4159.2010.07129.x http://dx.doi.org/10.1111/j.1471-4159.2010.07129.x DOI 10.1124/mol.106.032144 http://dx.doi.org/10.1124/mol.106.032144 DrugBank DB00898 http://www.drugbank.ca/drugs/DB00898 DrugBank DB01049 http://www.drugbank.ca/drugs/DB01049 EMBL AF080582 http://www.ebi.ac.uk/ena/data/view/AF080582 EMBL AF169255 http://www.ebi.ac.uk/ena/data/view/AF169255 EMBL AK314268 http://www.ebi.ac.uk/ena/data/view/AK314268 EMBL AM293589 http://www.ebi.ac.uk/ena/data/view/AM293589 EMBL EF444985 http://www.ebi.ac.uk/ena/data/view/EF444985 Ensembl ENST00000260191 http://www.ensembl.org/id/ENST00000260191 Ensembl ENST00000537778 http://www.ensembl.org/id/ENST00000537778 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0009986 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009986 GO_component GO:0045211 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045211 GO_component GO:1904602 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1904602 GO_function GO:0005232 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005232 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.20.120.370 http://www.cathdb.info/version/latest/superfamily/1.20.120.370 Gene3D 2.70.170.10 http://www.cathdb.info/version/latest/superfamily/2.70.170.10 GeneCards HTR3B http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=HTR3B GeneID 9177 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=9177 GeneTree ENSGT00790000122957 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00790000122957 HGNC HGNC:5298 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:5298 HOGENOM HOG000241519 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000241519&db=HOGENOM6 HOVERGEN HBG106638 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG106638&db=HOVERGEN HPA HPA039559 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA039559 InParanoid O95264 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O95264 IntAct O95264 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O95264* InterPro IPR006029 http://www.ebi.ac.uk/interpro/entry/IPR006029 InterPro IPR006201 http://www.ebi.ac.uk/interpro/entry/IPR006201 InterPro IPR006202 http://www.ebi.ac.uk/interpro/entry/IPR006202 InterPro IPR008132 http://www.ebi.ac.uk/interpro/entry/IPR008132 InterPro IPR008134 http://www.ebi.ac.uk/interpro/entry/IPR008134 InterPro IPR027361 http://www.ebi.ac.uk/interpro/entry/IPR027361 Jabion 9177 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=9177 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:9177 http://www.genome.jp/dbget-bin/www_bget?hsa:9177 KEGG_Orthology KO:K04819 http://www.genome.jp/dbget-bin/www_bget?KO:K04819 KEGG_Pathway ko04726 http://www.genome.jp/kegg-bin/show_pathway?ko04726 MIM 604654 http://www.ncbi.nlm.nih.gov/omim/604654 OMA FDRLLFQ http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=FDRLLFQ OrthoDB EOG091G08WI http://cegg.unige.ch/orthodb/results?searchtext=EOG091G08WI PANTHER PTHR18945 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR18945 PRINTS PR00252 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00252 PRINTS PR01708 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01708 PRINTS PR01710 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01710 PSORT swissprot:5HT3B_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:5HT3B_HUMAN PSORT-B swissprot:5HT3B_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:5HT3B_HUMAN PSORT2 swissprot:5HT3B_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:5HT3B_HUMAN Pfam PF02931 http://pfam.xfam.org/family/PF02931 Pfam PF02932 http://pfam.xfam.org/family/PF02932 PharmGKB PA29556 http://www.pharmgkb.org/do/serve?objId=PA29556&objCls=Gene Phobius swissprot:5HT3B_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:5HT3B_HUMAN PhylomeDB O95264 http://phylomedb.org/?seqid=O95264 ProteinModelPortal O95264 http://www.proteinmodelportal.org/query/uniprot/O95264 PubMed 10521471 http://www.ncbi.nlm.nih.gov/pubmed/10521471 PubMed 12867984 http://www.ncbi.nlm.nih.gov/pubmed/12867984 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15293096 http://www.ncbi.nlm.nih.gov/pubmed/15293096 PubMed 15389765 http://www.ncbi.nlm.nih.gov/pubmed/15389765 PubMed 16487942 http://www.ncbi.nlm.nih.gov/pubmed/16487942 PubMed 17010535 http://www.ncbi.nlm.nih.gov/pubmed/17010535 PubMed 17392525 http://www.ncbi.nlm.nih.gov/pubmed/17392525 PubMed 21138434 http://www.ncbi.nlm.nih.gov/pubmed/21138434 PubMed 21179162 http://www.ncbi.nlm.nih.gov/pubmed/21179162 PubMed 9950429 http://www.ncbi.nlm.nih.gov/pubmed/9950429 Reactome R-HSA-975298 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-975298 RefSeq NP_006019 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_006019 RefSeq XP_011541365 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011541365 STRING 9606.ENSP00000260191 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000260191&targetmode=cogs SUPFAM SSF63712 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF63712 SUPFAM SSF90112 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF90112 TIGRFAMs TIGR00860 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00860 UCSC uc001pok http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001pok&org=rat UniGene Hs.241377 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.241377 UniProtKB 5HT3B_HUMAN http://www.uniprot.org/uniprot/5HT3B_HUMAN UniProtKB-AC O95264 http://www.uniprot.org/uniprot/O95264 charge swissprot:5HT3B_HUMAN http://rest.g-language.org/emboss/charge/swissprot:5HT3B_HUMAN eggNOG ENOG410XQGR http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XQGR eggNOG KOG3645 http://eggnogapi.embl.de/nog_data/html/tree/KOG3645 epestfind swissprot:5HT3B_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:5HT3B_HUMAN garnier swissprot:5HT3B_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:5HT3B_HUMAN helixturnhelix swissprot:5HT3B_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:5HT3B_HUMAN hmoment swissprot:5HT3B_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:5HT3B_HUMAN iep swissprot:5HT3B_HUMAN http://rest.g-language.org/emboss/iep/swissprot:5HT3B_HUMAN inforesidue swissprot:5HT3B_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:5HT3B_HUMAN neXtProt NX_O95264 http://www.nextprot.org/db/entry/NX_O95264 octanol swissprot:5HT3B_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:5HT3B_HUMAN pepcoil swissprot:5HT3B_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:5HT3B_HUMAN pepdigest swissprot:5HT3B_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:5HT3B_HUMAN pepinfo swissprot:5HT3B_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:5HT3B_HUMAN pepnet swissprot:5HT3B_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:5HT3B_HUMAN pepstats swissprot:5HT3B_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:5HT3B_HUMAN pepwheel swissprot:5HT3B_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:5HT3B_HUMAN pepwindow swissprot:5HT3B_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:5HT3B_HUMAN sigcleave swissprot:5HT3B_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:5HT3B_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS CB083_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q53S99-1; Sequence=Displayed; Name=2; IsoId=Q53S99-2; Sequence=VSP_045403; Note=No experimental confirmation available.; # CAUTION Although related to reduced folate carrier family, it lacks transmembrane domains, suggesting that it has probably no transporter function. {ECO 0000305}. # CCDS CCDS33388 -. [Q53S99-1] # CCDS CCDS54434 -. [Q53S99-2] # Ensembl ENST00000264387 ENSP00000264387; ENSG00000042304. [Q53S99-1] # Ensembl ENST00000409066 ENSP00000387149; ENSG00000042304. [Q53S99-2] # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_function GO:0015403 thiamine uptake transmembrane transporter activity; IBA:GO_Central. # GO_process GO:0071934 thiamine transmembrane transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0055085 transmembrane transport # Genevisible Q53S99 HS # HGNC HGNC:25344 C2orf83 # InterPro IPR002666 Folate_carrier # Organism CB083_HUMAN Homo sapiens (Human) # PANTHER PTHR10686 PTHR10686 # Pfam PF01770 Folate_carrier # Proteomes UP000005640 Chromosome 2 # RecName CB083_HUMAN Folate transporter-like protein C2orf83 # RefSeq NP_001155955 NM_001162483.1. [Q53S99-2] # RefSeq NP_064546 NM_020161.3. [Q53S99-1] # SEQUENCE CAUTION Sequence=CAB95774.1; Type=Erroneous termination; Positions=141; Note=Translated as Trp.; Evidence={ECO:0000305}; Sequence=CAH18470.1; Type=Erroneous termination; Positions=141; Note=Translated as Trp.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the reduced folate carrier (RFC) transporter (TC 2.A.48) family. {ECO 0000305}. # UCSC uc002vph human. [Q53S99-1] # eggNOG ENOG410XT34 LUCA # eggNOG KOG3810 Eukaryota BLAST swissprot:CB083_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CB083_HUMAN COXPRESdb 56918 http://coxpresdb.jp/data/gene/56918.shtml CleanEx HS_C2orf83 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_C2orf83 DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 EMBL AC064853 http://www.ebi.ac.uk/ena/data/view/AC064853 EMBL AK055355 http://www.ebi.ac.uk/ena/data/view/AK055355 EMBL AL359944 http://www.ebi.ac.uk/ena/data/view/AL359944 EMBL BC131618 http://www.ebi.ac.uk/ena/data/view/BC131618 EMBL CH471063 http://www.ebi.ac.uk/ena/data/view/CH471063 EMBL CH471063 http://www.ebi.ac.uk/ena/data/view/CH471063 EMBL CR749679 http://www.ebi.ac.uk/ena/data/view/CR749679 Ensembl ENST00000264387 http://www.ensembl.org/id/ENST00000264387 Ensembl ENST00000409066 http://www.ensembl.org/id/ENST00000409066 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0015403 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015403 GO_process GO:0071934 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071934 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards C2orf83 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=C2orf83 GeneID 56918 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=56918 GeneTree ENSGT00390000007980 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000007980 H-InvDB HIX0200277 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0200277 HGNC HGNC:25344 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:25344 HOGENOM HOG000111339 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000111339&db=HOGENOM6 HPA HPA030319 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA030319 InParanoid Q53S99 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q53S99 InterPro IPR002666 http://www.ebi.ac.uk/interpro/entry/IPR002666 Jabion 56918 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=56918 KEGG_Gene hsa:56918 http://www.genome.jp/dbget-bin/www_bget?hsa:56918 MINT MINT-4722244 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-4722244 OMA GHGLCHP http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=GHGLCHP OrthoDB EOG091G0Q8D http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0Q8D PANTHER PTHR10686 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10686 PSORT swissprot:CB083_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CB083_HUMAN PSORT-B swissprot:CB083_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CB083_HUMAN PSORT2 swissprot:CB083_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CB083_HUMAN Pfam PF01770 http://pfam.xfam.org/family/PF01770 PharmGKB PA164717149 http://www.pharmgkb.org/do/serve?objId=PA164717149&objCls=Gene Phobius swissprot:CB083_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CB083_HUMAN PhylomeDB Q53S99 http://phylomedb.org/?seqid=Q53S99 ProteinModelPortal Q53S99 http://www.proteinmodelportal.org/query/uniprot/Q53S99 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 RefSeq NP_001155955 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001155955 RefSeq NP_064546 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_064546 STRING 9606.ENSP00000264387 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000264387&targetmode=cogs UCSC uc002vph http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002vph&org=rat UniGene Hs.283092 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.283092 UniProtKB CB083_HUMAN http://www.uniprot.org/uniprot/CB083_HUMAN UniProtKB-AC Q53S99 http://www.uniprot.org/uniprot/Q53S99 charge swissprot:CB083_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CB083_HUMAN eggNOG ENOG410XT34 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XT34 eggNOG KOG3810 http://eggnogapi.embl.de/nog_data/html/tree/KOG3810 epestfind swissprot:CB083_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CB083_HUMAN garnier swissprot:CB083_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CB083_HUMAN helixturnhelix swissprot:CB083_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CB083_HUMAN hmoment swissprot:CB083_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CB083_HUMAN iep swissprot:CB083_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CB083_HUMAN inforesidue swissprot:CB083_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CB083_HUMAN neXtProt NX_Q53S99 http://www.nextprot.org/db/entry/NX_Q53S99 octanol swissprot:CB083_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CB083_HUMAN pepcoil swissprot:CB083_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CB083_HUMAN pepdigest swissprot:CB083_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CB083_HUMAN pepinfo swissprot:CB083_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CB083_HUMAN pepnet swissprot:CB083_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CB083_HUMAN pepstats swissprot:CB083_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CB083_HUMAN pepwheel swissprot:CB083_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CB083_HUMAN pepwindow swissprot:CB083_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CB083_HUMAN sigcleave swissprot:CB083_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CB083_HUMAN ## Database ID URL or Descriptions # AltName SFXN1_HUMAN Tricarboxylate carrier protein # BioGrid 125107 53 # ChiTaRS SFXN1 human # Ensembl ENST00000321442 ENSP00000316905; ENSG00000164466 # ExpressionAtlas Q9H9B4 baseline and differential # FUNCTION SFXN1_HUMAN Might be involved in the transport of a component required for iron utilization into or out of the mitochondria. # GO_component GO:0005739 mitochondrion; IDA:HPA. # GO_component GO:0005743 mitochondrial inner membrane; IEA:Ensembl. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0015075 ion transmembrane transporter activity; IEA:InterPro. # GO_process GO:0006826 iron ion transport; IEA:Ensembl. # GO_process GO:0030218 erythrocyte differentiation; IEA:Ensembl. # GO_process GO:0055072 iron ion homeostasis; IEA:UniProtKB-KW. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005739 mitochondrion # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0030154 cell differentiation # GOslim_process GO:0042592 homeostatic process # Genevisible Q9H9B4 HS # HGNC HGNC:16085 SFXN1 # IntAct Q9H9B4 16 # InterPro IPR004686 Mtc # MIM 615569 gene # Organism SFXN1_HUMAN Homo sapiens (Human) # PANTHER PTHR11153 PTHR11153 # Pfam PF03820 Mtc # Proteomes UP000005640 Chromosome 5 # RecName SFXN1_HUMAN Sideroflexin-1 # RefSeq NP_001309906 NM_001322977.1 # RefSeq NP_073591 NM_022754.6 # SEQUENCE CAUTION Sequence=AAH20517.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB14003.1; Type=Miscellaneous discrepancy; Note=Cloning artifact.; Evidence={ECO 0000305}; Sequence=BAB14318.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; # SIMILARITY Belongs to the sideroflexin family. {ECO 0000305}. # SUBCELLULAR LOCATION SFXN1_HUMAN Mitochondrion membrane {ECO 0000250}; Multi- pass membrane protein {ECO 0000250}. # TIGRFAMs TIGR00798 mtc # UCSC uc003mda human # eggNOG ENOG410YU8V LUCA # eggNOG KOG3767 Eukaryota BLAST swissprot:SFXN1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SFXN1_HUMAN BioCyc ZFISH:ENSG00000164466-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000164466-MONOMER COXPRESdb 94081 http://coxpresdb.jp/data/gene/94081.shtml CleanEx HS_SFXN1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SFXN1 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/ac9004309 http://dx.doi.org/10.1021/ac9004309 DOI 10.1038/nature02919 http://dx.doi.org/10.1038/nature02919 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.1210303109 http://dx.doi.org/10.1073/pnas.1210303109 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AC091393 http://www.ebi.ac.uk/ena/data/view/AC091393 EMBL AF327346 http://www.ebi.ac.uk/ena/data/view/AF327346 EMBL AK022287 http://www.ebi.ac.uk/ena/data/view/AK022287 EMBL AK022938 http://www.ebi.ac.uk/ena/data/view/AK022938 EMBL AK056915 http://www.ebi.ac.uk/ena/data/view/AK056915 EMBL BC020517 http://www.ebi.ac.uk/ena/data/view/BC020517 EMBL BC063241 http://www.ebi.ac.uk/ena/data/view/BC063241 EMBL BX648188 http://www.ebi.ac.uk/ena/data/view/BX648188 EMBL CH471062 http://www.ebi.ac.uk/ena/data/view/CH471062 EMBL CH471062 http://www.ebi.ac.uk/ena/data/view/CH471062 EMBL CH471062 http://www.ebi.ac.uk/ena/data/view/CH471062 EMBL CH471062 http://www.ebi.ac.uk/ena/data/view/CH471062 Ensembl ENST00000321442 http://www.ensembl.org/id/ENST00000321442 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0015075 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015075 GO_process GO:0006826 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006826 GO_process GO:0030218 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030218 GO_process GO:0055072 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055072 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0030154 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030154 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GeneCards SFXN1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SFXN1 GeneID 94081 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=94081 GeneTree ENSGT00390000002026 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000002026 HGNC HGNC:16085 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:16085 HOGENOM HOG000203440 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000203440&db=HOGENOM6 HOVERGEN HBG056083 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG056083&db=HOVERGEN HPA HPA019543 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA019543 HPA HPA063745 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA063745 InParanoid Q9H9B4 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9H9B4 IntAct Q9H9B4 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9H9B4* InterPro IPR004686 http://www.ebi.ac.uk/interpro/entry/IPR004686 Jabion 94081 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=94081 KEGG_Gene hsa:94081 http://www.genome.jp/dbget-bin/www_bget?hsa:94081 MIM 615569 http://www.ncbi.nlm.nih.gov/omim/615569 MINT MINT-1151298 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1151298 OMA SAVIFWQ http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=SAVIFWQ OrthoDB EOG091G0BOU http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0BOU PANTHER PTHR11153 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11153 PSORT swissprot:SFXN1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SFXN1_HUMAN PSORT-B swissprot:SFXN1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SFXN1_HUMAN PSORT2 swissprot:SFXN1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SFXN1_HUMAN Pfam PF03820 http://pfam.xfam.org/family/PF03820 PharmGKB PA38090 http://www.pharmgkb.org/do/serve?objId=PA38090&objCls=Gene Phobius swissprot:SFXN1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SFXN1_HUMAN PhylomeDB Q9H9B4 http://phylomedb.org/?seqid=Q9H9B4 ProteinModelPortal Q9H9B4 http://www.proteinmodelportal.org/query/uniprot/Q9H9B4 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15372022 http://www.ncbi.nlm.nih.gov/pubmed/15372022 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 PubMed 19413330 http://www.ncbi.nlm.nih.gov/pubmed/19413330 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 22814378 http://www.ncbi.nlm.nih.gov/pubmed/22814378 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 RefSeq NP_001309906 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001309906 RefSeq NP_073591 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_073591 STRING 9606.ENSP00000316905 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000316905&targetmode=cogs TIGRFAMs TIGR00798 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00798 UCSC uc003mda http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003mda&org=rat UniGene Hs.369440 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.369440 UniGene Hs.732081 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.732081 UniProtKB SFXN1_HUMAN http://www.uniprot.org/uniprot/SFXN1_HUMAN UniProtKB-AC Q9H9B4 http://www.uniprot.org/uniprot/Q9H9B4 charge swissprot:SFXN1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SFXN1_HUMAN eggNOG ENOG410YU8V http://eggnogapi.embl.de/nog_data/html/tree/ENOG410YU8V eggNOG KOG3767 http://eggnogapi.embl.de/nog_data/html/tree/KOG3767 epestfind swissprot:SFXN1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SFXN1_HUMAN garnier swissprot:SFXN1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SFXN1_HUMAN helixturnhelix swissprot:SFXN1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SFXN1_HUMAN hmoment swissprot:SFXN1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SFXN1_HUMAN iep swissprot:SFXN1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SFXN1_HUMAN inforesidue swissprot:SFXN1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SFXN1_HUMAN neXtProt NX_Q9H9B4 http://www.nextprot.org/db/entry/NX_Q9H9B4 octanol swissprot:SFXN1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SFXN1_HUMAN pepcoil swissprot:SFXN1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SFXN1_HUMAN pepdigest swissprot:SFXN1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SFXN1_HUMAN pepinfo swissprot:SFXN1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SFXN1_HUMAN pepnet swissprot:SFXN1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SFXN1_HUMAN pepstats swissprot:SFXN1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SFXN1_HUMAN pepwheel swissprot:SFXN1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SFXN1_HUMAN pepwindow swissprot:SFXN1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SFXN1_HUMAN sigcleave swissprot:SFXN1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SFXN1_HUMAN ## Database ID URL or Descriptions # AltName VATL_HUMAN Vacuolar proton pump 16 kDa proteolipid subunit # BioGrid 107010 22 # Ensembl ENST00000330398 ENSP00000329757; ENSG00000185883 # ExpressionAtlas P27449 baseline and differential # FUNCTION VATL_HUMAN Proton-conducting pore forming subunit of the membrane integral V0 complex of vacuolar ATPase. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. # GO_component GO:0000220 vacuolar proton-transporting V-type ATPase, V0 domain; IBA:GO_Central. # GO_component GO:0005765 lysosomal membrane; IDA:UniProtKB. # GO_component GO:0005925 focal adhesion; IDA:UniProtKB. # GO_component GO:0010008 endosome membrane; TAS:Reactome. # GO_component GO:0016021 integral component of membrane; TAS:ProtInc. # GO_component GO:0030670 phagocytic vesicle membrane; TAS:Reactome. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0031625 ubiquitin protein ligase binding; IPI:UniProtKB. # GO_function GO:0046933 proton-transporting ATP synthase activity, rotational mechanism; TAS:UniProtKB. # GO_function GO:0046961 proton-transporting ATPase activity, rotational mechanism; TAS:ProtInc. # GO_process GO:0007042 lysosomal lumen acidification; IBA:GO_Central. # GO_process GO:0008286 insulin receptor signaling pathway; TAS:Reactome. # GO_process GO:0015991 ATP hydrolysis coupled proton transport; IEA:InterPro. # GO_process GO:0015992 proton transport; TAS:ProtInc. # GO_process GO:0016032 viral process; IEA:UniProtKB-KW. # GO_process GO:0016241 regulation of macroautophagy; NAS:ParkinsonsUK-UCL. # GO_process GO:0030177 positive regulation of Wnt signaling pathway; IMP:UniProtKB. # GO_process GO:0033572 transferrin transport; TAS:Reactome. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0090383 phagosome acidification; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0043226 organelle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0019899 enzyme binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0044403 symbiosis, encompassing mutualism through parasitism # GOslim_process GO:0055085 transmembrane transport # Genevisible P27449 HS # HGNC HGNC:855 ATP6V0C # INTERACTION VATL_HUMAN Q96G23 CERS2; NbExp=3; IntAct=EBI-721179, EBI-1057080; P0CK45 E5 (xeno); NbExp=2; IntAct=EBI-721179, EBI-7015490; Q92838 EDA; NbExp=3; IntAct=EBI-721179, EBI-529425; P21757 MSR1; NbExp=3; IntAct=EBI-721179, EBI-1776976; P25788 PSMA3; NbExp=3; IntAct=EBI-721179, EBI-348380; Q9BZL3 SMIM3; NbExp=5; IntAct=EBI-721179, EBI-741850; # IntAct P27449 13 # InterPro IPR000245 ATPase_proteolipid_csu # InterPro IPR002379 ATPase_proteolipid_c-like_dom # InterPro IPR011555 ATPase_proteolipid_su_C_euk # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Brite ko01000 Enzymes # KEGG_Pathway ko00190 Oxidative phosphorylation # KEGG_Pathway ko04142 Lysosome # KEGG_Pathway ko04145 Phagosome # KEGG_Pathway ko04721 Synaptic vesicle cycle # KEGG_Pathway ko04966 Collecting duct acid secretion # KEGG_Pathway ko05110 Vibrio cholerae infection # KEGG_Pathway ko05120 Epithelial cell signaling in Helicobacter pylori infection # KEGG_Pathway ko05152 Tuberculosis # KEGG_Pathway ko05323 Rheumatoid arthritis # MIM 108745 gene # Organism VATL_HUMAN Homo sapiens (Human) # PIR A39367 A39367 # PRINTS PR00122 VACATPASE # PTM VATL_HUMAN Ubiquitinated by RNF182, leading to its degradation via the ubiquitin-proteasome pathway. {ECO 0000269|PubMed 18298843}. # Pfam PF00137 ATP-synt_C; 2 # Proteomes UP000005640 Chromosome 16 # Reactome R-HSA-1222556 ROS, RNS production in response to bacteria # Reactome R-HSA-6798695 Neutrophil degranulation # Reactome R-HSA-77387 Insulin receptor recycling # Reactome R-HSA-917977 Transferrin endocytosis and recycling # Reactome R-HSA-983712 Ion channel transport # RecName VATL_HUMAN V-type proton ATPase 16 kDa proteolipid subunit # RefSeq NP_001185498 NM_001198569.1 # RefSeq NP_001685 NM_001694.3 # SIMILARITY Belongs to the V-ATPase proteolipid subunit family. {ECO 0000305}. # SUBCELLULAR LOCATION VATL_HUMAN Vacuole membrane; Multi-pass membrane protein. # SUBUNIT VATL_HUMAN V-ATPase is a heteromultimeric enzyme composed of a peripheral catalytic V1 complex (main components subunits A, B, C, D, E, and F) attached to an integral membrane V0 proton pore complex (main component the proteolipid protein; which is present as a hexamer that forms the proton-conducting pore). Interacts with LASS2. Interacts with HTLV-1 accessory protein p12I. Interacts with RNF182; this interaction leads to ubiquitination and degradation via the proteasome pathway. {ECO 0000269|PubMed 11543633, ECO 0000269|PubMed 18298843, ECO 0000269|PubMed 7636472}. # SUPFAM SSF81333 SSF81333; 2 # TIGRFAMs TIGR01100 V_ATP_synt_C # UCSC uc002cqn human # eggNOG COG0636 LUCA # eggNOG KOG0232 Eukaryota BLAST swissprot:VATL_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:VATL_HUMAN BioCyc MetaCyc:MONOMER66-34368 http://biocyc.org/getid?id=MetaCyc:MONOMER66-34368 BioCyc ZFISH:MONOMER66-34368 http://biocyc.org/getid?id=ZFISH:MONOMER66-34368 COG COG0636 http://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=COG0636 COXPRESdb 527 http://coxpresdb.jp/data/gene/527.shtml CleanEx HS_ATP6V0C http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ATP6V0C DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1006/geno.2001.6614 http://dx.doi.org/10.1006/geno.2001.6614 DOI 10.1016/0006-291X(92)90562-Y http://dx.doi.org/10.1016/0006-291X(92)90562-Y DOI 10.1073/pnas.88.10.4289 http://dx.doi.org/10.1073/pnas.88.10.4289 DOI 10.1099/0022-1317-76-8-1909 http://dx.doi.org/10.1099/0022-1317-76-8-1909 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1750-1326-3-4 http://dx.doi.org/10.1186/1750-1326-3-4 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL BC004537 http://www.ebi.ac.uk/ena/data/view/BC004537 EMBL BC007389 http://www.ebi.ac.uk/ena/data/view/BC007389 EMBL BC007759 http://www.ebi.ac.uk/ena/data/view/BC007759 EMBL BC009290 http://www.ebi.ac.uk/ena/data/view/BC009290 EMBL BT007155 http://www.ebi.ac.uk/ena/data/view/BT007155 EMBL CR541930 http://www.ebi.ac.uk/ena/data/view/CR541930 EMBL CR541951 http://www.ebi.ac.uk/ena/data/view/CR541951 EMBL M62762 http://www.ebi.ac.uk/ena/data/view/M62762 Ensembl ENST00000330398 http://www.ensembl.org/id/ENST00000330398 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000220 GO_component GO:0005765 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005765 GO_component GO:0005925 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005925 GO_component GO:0010008 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010008 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0030670 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030670 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0031625 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031625 GO_function GO:0046933 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046933 GO_function GO:0046961 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046961 GO_process GO:0007042 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007042 GO_process GO:0008286 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008286 GO_process GO:0015991 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015991 GO_process GO:0015992 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015992 GO_process GO:0016032 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016032 GO_process GO:0016241 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016241 GO_process GO:0030177 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030177 GO_process GO:0033572 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033572 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0090383 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090383 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0044403 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044403 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards ATP6V0C http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ATP6V0C GeneID 527 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=527 GeneTree ENSGT00550000074873 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074873 HGNC HGNC:855 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:855 HOGENOM HOG000056520 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000056520&db=HOGENOM6 HOVERGEN HBG002712 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG002712&db=HOVERGEN InParanoid P27449 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P27449 IntAct P27449 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P27449* InterPro IPR000245 http://www.ebi.ac.uk/interpro/entry/IPR000245 InterPro IPR002379 http://www.ebi.ac.uk/interpro/entry/IPR002379 InterPro IPR011555 http://www.ebi.ac.uk/interpro/entry/IPR011555 Jabion 527 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=527 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00002 http://www.genome.jp/dbget-bin/www_bget?ko00002 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Gene hsa:527 http://www.genome.jp/dbget-bin/www_bget?hsa:527 KEGG_Orthology KO:K02155 http://www.genome.jp/dbget-bin/www_bget?KO:K02155 KEGG_Pathway ko00190 http://www.genome.jp/kegg-bin/show_pathway?ko00190 KEGG_Pathway ko04142 http://www.genome.jp/kegg-bin/show_pathway?ko04142 KEGG_Pathway ko04145 http://www.genome.jp/kegg-bin/show_pathway?ko04145 KEGG_Pathway ko04721 http://www.genome.jp/kegg-bin/show_pathway?ko04721 KEGG_Pathway ko04966 http://www.genome.jp/kegg-bin/show_pathway?ko04966 KEGG_Pathway ko05110 http://www.genome.jp/kegg-bin/show_pathway?ko05110 KEGG_Pathway ko05120 http://www.genome.jp/kegg-bin/show_pathway?ko05120 KEGG_Pathway ko05152 http://www.genome.jp/kegg-bin/show_pathway?ko05152 KEGG_Pathway ko05323 http://www.genome.jp/kegg-bin/show_pathway?ko05323 MIM 108745 http://www.ncbi.nlm.nih.gov/omim/108745 MINT MINT-1414327 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1414327 OMA TCAIVFT http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=TCAIVFT OrthoDB EOG091G0U1Y http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0U1Y PRINTS PR00122 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00122 PSORT swissprot:VATL_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:VATL_HUMAN PSORT-B swissprot:VATL_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:VATL_HUMAN PSORT2 swissprot:VATL_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:VATL_HUMAN Pfam PF00137 http://pfam.xfam.org/family/PF00137 PharmGKB PA25149 http://www.pharmgkb.org/do/serve?objId=PA25149&objCls=Gene Phobius swissprot:VATL_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:VATL_HUMAN PhylomeDB P27449 http://phylomedb.org/?seqid=P27449 ProteinModelPortal P27449 http://www.proteinmodelportal.org/query/uniprot/P27449 PubMed 11543633 http://www.ncbi.nlm.nih.gov/pubmed/11543633 PubMed 1532310 http://www.ncbi.nlm.nih.gov/pubmed/1532310 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 1709739 http://www.ncbi.nlm.nih.gov/pubmed/1709739 PubMed 18298843 http://www.ncbi.nlm.nih.gov/pubmed/18298843 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 7636472 http://www.ncbi.nlm.nih.gov/pubmed/7636472 Reactome R-HSA-1222556 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1222556 Reactome R-HSA-6798695 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6798695 Reactome R-HSA-77387 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-77387 Reactome R-HSA-917977 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-917977 Reactome R-HSA-983712 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-983712 RefSeq NP_001185498 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001185498 RefSeq NP_001685 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001685 SMR P27449 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P27449 STRING 9606.ENSP00000329757 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000329757&targetmode=cogs STRING COG0636 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=COG0636&targetmode=cogs SUPFAM SSF81333 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81333 TIGRFAMs TIGR01100 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01100 UCSC uc002cqn http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002cqn&org=rat UniGene Hs.389107 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.389107 UniProtKB VATL_HUMAN http://www.uniprot.org/uniprot/VATL_HUMAN UniProtKB-AC P27449 http://www.uniprot.org/uniprot/P27449 charge swissprot:VATL_HUMAN http://rest.g-language.org/emboss/charge/swissprot:VATL_HUMAN eggNOG COG0636 http://eggnogapi.embl.de/nog_data/html/tree/COG0636 eggNOG KOG0232 http://eggnogapi.embl.de/nog_data/html/tree/KOG0232 epestfind swissprot:VATL_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:VATL_HUMAN garnier swissprot:VATL_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:VATL_HUMAN helixturnhelix swissprot:VATL_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:VATL_HUMAN hmoment swissprot:VATL_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:VATL_HUMAN iep swissprot:VATL_HUMAN http://rest.g-language.org/emboss/iep/swissprot:VATL_HUMAN inforesidue swissprot:VATL_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:VATL_HUMAN neXtProt NX_P27449 http://www.nextprot.org/db/entry/NX_P27449 octanol swissprot:VATL_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:VATL_HUMAN pepcoil swissprot:VATL_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:VATL_HUMAN pepdigest swissprot:VATL_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:VATL_HUMAN pepinfo swissprot:VATL_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:VATL_HUMAN pepnet swissprot:VATL_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:VATL_HUMAN pepstats swissprot:VATL_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:VATL_HUMAN pepwheel swissprot:VATL_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:VATL_HUMAN pepwindow swissprot:VATL_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:VATL_HUMAN sigcleave swissprot:VATL_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:VATL_HUMAN ## Database ID URL or Descriptions # AltName AT135_HUMAN P5-ATPase isoform 5 # CATALYTIC ACTIVITY AT135_HUMAN ATP + H(2)O = ADP + phosphate. # Ensembl ENST00000342358 ENSP00000341942; ENSG00000187527 # ExpressionAtlas Q4VNC0 baseline and differential # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0043231 intracellular membrane-bounded organelle; IBA:GO_Central. # GO_function GO:0005524 ATP binding; IEA:UniProtKB-KW. # GO_function GO:0019829 cation-transporting ATPase activity; IBA:GO_Central. # GO_function GO:0046872 metal ion binding; IEA:UniProtKB-KW. # GO_process GO:0006874 cellular calcium ion homeostasis; IBA:GO_Central. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 2.70.150.10 -; 1. # Gene3D 3.40.1110.10 -; 1. # Gene3D 3.40.50.1000 -; 2. # Genevisible Q4VNC0 HS # HGNC HGNC:31789 ATP13A5 # InterPro IPR001757 P_typ_ATPase # InterPro IPR004014 ATPase_P-typ_cation-transptr_N # InterPro IPR006544 P-type_TPase_V # InterPro IPR008250 ATPase_P-typ_transduc_dom_A # InterPro IPR018303 ATPase_P-typ_P_site # InterPro IPR023214 HAD-like_dom # InterPro IPR023299 ATPase_P-typ_cyto_domN # KEGG_Brite ko01000 Enzymes # Organism AT135_HUMAN Homo sapiens (Human) # PROSITE PS00154 ATPASE_E1_E2 # Pfam PF00122 E1-E2_ATPase # Pfam PF00690 Cation_ATPase_N # Pfam PF12409 P5-ATPase # Proteomes UP000005640 Chromosome 3 # Reactome R-HSA-936837 Ion transport by P-type ATPases # RecName AT135_HUMAN Probable cation-transporting ATPase 13A5 # RefSeq NP_940907 NM_198505.2 # SEQUENCE CAUTION Sequence=AAQ89030.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAQ89030.1; Type=Frameshift; Positions=1126, 1135; Evidence={ECO 0000305}; Sequence=BAC85490.1; Type=Miscellaneous discrepancy; Note=Unlikely isoform. Cloning artifact.; Evidence={ECO:0000305}; # SIMILARITY Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type V subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION AT135_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # SUPFAM SSF56784 SSF56784; 3 # SUPFAM SSF81660 SSF81660 # TIGRFAMs TIGR01494 ATPase_P-type # TIGRFAMs TIGR01657 P-ATPase-V # UCSC uc011bsq human # eggNOG ENOG410XRCA LUCA # eggNOG KOG0208 Eukaryota BLAST swissprot:AT135_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:AT135_HUMAN COXPRESdb 344905 http://coxpresdb.jp/data/gene/344905.shtml CleanEx HS_ATP13A5 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ATP13A5 DOI 10.1016/j.ygeno.2005.04.002 http://dx.doi.org/10.1016/j.ygeno.2005.04.002 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.1293003 http://dx.doi.org/10.1101/gr.1293003 EC_number EC:3.6.3.- http://www.genome.jp/dbget-bin/www_bget?EC:3.6.3.- EMBL AK122613 http://www.ebi.ac.uk/ena/data/view/AK122613 EMBL AY358667 http://www.ebi.ac.uk/ena/data/view/AY358667 EMBL AY823163 http://www.ebi.ac.uk/ena/data/view/AY823163 ENZYME 3.6.3.- http://enzyme.expasy.org/EC/3.6.3.- Ensembl ENST00000342358 http://www.ensembl.org/id/ENST00000342358 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0043231 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043231 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0019829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019829 GO_function GO:0046872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046872 GO_process GO:0006874 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006874 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 2.70.150.10 http://www.cathdb.info/version/latest/superfamily/2.70.150.10 Gene3D 3.40.1110.10 http://www.cathdb.info/version/latest/superfamily/3.40.1110.10 Gene3D 3.40.50.1000 http://www.cathdb.info/version/latest/superfamily/3.40.50.1000 GeneCards ATP13A5 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ATP13A5 GeneID 344905 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=344905 GeneTree ENSGT00530000063001 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000063001 HGNC HGNC:31789 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:31789 HOGENOM HOG000171813 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000171813&db=HOGENOM6 HOVERGEN HBG065757 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG065757&db=HOVERGEN HPA HPA031771 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA031771 HPA HPA031774 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA031774 InParanoid Q4VNC0 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q4VNC0 IntEnz 3.6.3 http://www.ebi.ac.uk/intenz/query?cmd=Search&q=3.6.3 InterPro IPR001757 http://www.ebi.ac.uk/interpro/entry/IPR001757 InterPro IPR004014 http://www.ebi.ac.uk/interpro/entry/IPR004014 InterPro IPR006544 http://www.ebi.ac.uk/interpro/entry/IPR006544 InterPro IPR008250 http://www.ebi.ac.uk/interpro/entry/IPR008250 InterPro IPR018303 http://www.ebi.ac.uk/interpro/entry/IPR018303 InterPro IPR023214 http://www.ebi.ac.uk/interpro/entry/IPR023214 InterPro IPR023299 http://www.ebi.ac.uk/interpro/entry/IPR023299 Jabion 344905 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=344905 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Gene hsa:344905 http://www.genome.jp/dbget-bin/www_bget?hsa:344905 KEGG_Orthology KO:K14951 http://www.genome.jp/dbget-bin/www_bget?KO:K14951 OMA TTEQHFW http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=TTEQHFW OrthoDB EOG091G01IL http://cegg.unige.ch/orthodb/results?searchtext=EOG091G01IL PROSITE PS00154 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00154 PSORT swissprot:AT135_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:AT135_HUMAN PSORT-B swissprot:AT135_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:AT135_HUMAN PSORT2 swissprot:AT135_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:AT135_HUMAN Pfam PF00122 http://pfam.xfam.org/family/PF00122 Pfam PF00690 http://pfam.xfam.org/family/PF00690 Pfam PF12409 http://pfam.xfam.org/family/PF12409 PharmGKB PA134952038 http://www.pharmgkb.org/do/serve?objId=PA134952038&objCls=Gene Phobius swissprot:AT135_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:AT135_HUMAN PhylomeDB Q4VNC0 http://phylomedb.org/?seqid=Q4VNC0 ProteinModelPortal Q4VNC0 http://www.proteinmodelportal.org/query/uniprot/Q4VNC0 PubMed 12975309 http://www.ncbi.nlm.nih.gov/pubmed/12975309 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15925480 http://www.ncbi.nlm.nih.gov/pubmed/15925480 Reactome R-HSA-936837 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-936837 RefSeq NP_940907 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_940907 STRING 9606.ENSP00000341942 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000341942&targetmode=cogs SUPFAM SSF56784 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF56784 SUPFAM SSF81660 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81660 TIGRFAMs TIGR01494 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01494 TIGRFAMs TIGR01657 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01657 UCSC uc011bsq http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc011bsq&org=rat UniGene Hs.658032 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.658032 UniProtKB AT135_HUMAN http://www.uniprot.org/uniprot/AT135_HUMAN UniProtKB-AC Q4VNC0 http://www.uniprot.org/uniprot/Q4VNC0 charge swissprot:AT135_HUMAN http://rest.g-language.org/emboss/charge/swissprot:AT135_HUMAN eggNOG ENOG410XRCA http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XRCA eggNOG KOG0208 http://eggnogapi.embl.de/nog_data/html/tree/KOG0208 epestfind swissprot:AT135_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:AT135_HUMAN garnier swissprot:AT135_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:AT135_HUMAN helixturnhelix swissprot:AT135_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:AT135_HUMAN hmoment swissprot:AT135_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:AT135_HUMAN iep swissprot:AT135_HUMAN http://rest.g-language.org/emboss/iep/swissprot:AT135_HUMAN inforesidue swissprot:AT135_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:AT135_HUMAN neXtProt NX_Q4VNC0 http://www.nextprot.org/db/entry/NX_Q4VNC0 octanol swissprot:AT135_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:AT135_HUMAN pepcoil swissprot:AT135_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:AT135_HUMAN pepdigest swissprot:AT135_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:AT135_HUMAN pepinfo swissprot:AT135_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:AT135_HUMAN pepnet swissprot:AT135_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:AT135_HUMAN pepstats swissprot:AT135_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:AT135_HUMAN pepwheel swissprot:AT135_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:AT135_HUMAN pepwindow swissprot:AT135_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:AT135_HUMAN sigcleave swissprot:AT135_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:AT135_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S12A3_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=P55017-1; Sequence=Displayed; Name=2; IsoId=P55017-2; Sequence=VSP_036318; Name=3; IsoId=P55017-3; Sequence=VSP_040100, VSP_036318; Note=No experimental confirmation available.; # AltName S12A3_HUMAN Na-Cl cotransporter # AltName S12A3_HUMAN Na-Cl symporter # AltName S12A3_HUMAN Thiazide-sensitive sodium-chloride cotransporter # BioGrid 112448 11 # CCDS CCDS10770 -. [P55017-2] # CCDS CCDS45491 -. [P55017-3] # CCDS CCDS58464 -. [P55017-1] # ChiTaRS SLC12A3 human # DISEASE S12A3_HUMAN Gitelman syndrome (GTLMNS) [MIM 263800] An autosomal recessive disorder characterized by hypokalemic alkalosis in combination with hypomagnesemia, low urinary calcium, and increased renin activity associated with normal blood pressure. Patients are often asymptomatic or present transient periods of muscular weakness and tetany, usually accompanied by abdominal pain, vomiting and fever. The phenotype is highly heterogeneous in terms of age at onset and severity. Cardinal features such as hypocalciuria and hypomagnesemia might also change during the life cycle of a given patient. It has overlapping features with Bartter syndrome. {ECO 0000269|PubMed 10616841, ECO 0000269|PubMed 10988270, ECO 0000269|PubMed 11168953, ECO 0000269|PubMed 11940055, ECO 0000269|PubMed 12008755, ECO 0000269|PubMed 12112667, ECO 0000269|PubMed 15069170, ECO 0000269|PubMed 15687331, ECO 0000269|PubMed 16429844, ECO 0000269|PubMed 17654016, ECO 0000269|PubMed 17873326, ECO 0000269|PubMed 22009145, ECO 0000269|PubMed 8528245, ECO 0000269|PubMed 8900229, ECO 0000269|PubMed 8954067, ECO 0000269|PubMed 9734597}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DrugBank DB00436 Bendroflumethiazide # DrugBank DB00524 Metolazone # DrugBank DB00562 Benzthiazide # DrugBank DB00880 Chlorothiazide # DrugBank DB00999 Hydrochlorothiazide # DrugBank DB01119 Diazoxide # DrugBank DB01324 Polythiazide # DrugBank DB01325 Quinethazone # ENZYME REGULATION Activated by WNK3. {ECO:0000269|PubMed 21613606}. # Ensembl ENST00000438926 ENSP00000402152; ENSG00000070915. [P55017-2] # Ensembl ENST00000563236 ENSP00000456149; ENSG00000070915. [P55017-1] # Ensembl ENST00000566786 ENSP00000457552; ENSG00000070915. [P55017-3] # ExpressionAtlas P55017 baseline and differential # FUNCTION S12A3_HUMAN Electroneutral sodium and chloride ion cotransporter. In kidney distal convoluted tubules, key mediator of sodium and chloride reabsorption (PubMed 21613606, PubMed 22009145). Receptor for the proinflammatory cytokine IL18. Contributes to IL18-induced cytokine production, including IFNG, IL6, IL18 and CCL2. May act either independently of IL18R1, or in a complex with IL18R1 (By similarity). {ECO 0000250|UniProtKB P59158, ECO 0000269|PubMed 21613606, ECO 0000269|PubMed 22009145}. # GO_component GO:0005829 cytosol; IEA:Ensembl. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0016020 membrane; TAS:ProtInc. # GO_component GO:0016324 apical plasma membrane; ISS:UniProtKB. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0005215 transporter activity; ISS:UniProtKB. # GO_function S12A3_HUMAN GO 0015378 sodium chloride symporter activity; TAS Reactome. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0006811 ion transport; TAS:Reactome. # GO_process GO:0006814 sodium ion transport; ISS:UniProtKB. # GO_process GO:0035725 sodium ion transmembrane transport; ISS:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005829 cytosol # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0055085 transmembrane transport # Genevisible P55017 HS # HGNC HGNC:10912 SLC12A3 # InterPro IPR002948 SLC12A3 # InterPro IPR004841 AA-permease/SLC12A_dom # InterPro IPR004842 SLC12A_fam # InterPro IPR013612 AA_permease_N # InterPro IPR018491 SLC12_C # KEGG_Brite ko02001 Solute carrier family # KEGG_Disease H00240 [Endocrine disease; Urinary system disease] Gitelman syndrome # MIM 263800 phenotype # MIM 600968 gene # MISCELLANEOUS Target of thiazide diuretics used in the treatment of high blood pressure. {ECO:0000305|PubMed 8528245}. # Organism S12A3_HUMAN Homo sapiens (Human) # Orphanet 358 Gitelman syndrome # PANTHER PTHR11827:SF9 PTHR11827:SF9; 3 # PIR G01202 G01202 # PIR PC4180 PC4180 # PRINTS PR01230 NACLTRNSPORT # PTM S12A3_HUMAN Phosphorylated in response to IL18. {ECO 0000250|UniProtKB P59158}. # PTM S12A3_HUMAN Ubiquitinated; ubiquitination is essential for regulation of endocytosis. The BCR(KLHL3) complex was initially identified as a candidate ubiquitin ligase for SLC12A3 (PubMed 22406640). However, it was later shown that it is not the case. {ECO 0000269|PubMed 22406640}. # Pfam PF00324 AA_permease # Pfam PF03522 SLC12; 2 # Pfam PF08403 AA_permease_N # Proteomes UP000005640 Chromosome 16 # Reactome R-HSA-426117 Cation-coupled Chloride cotransporters # RecName S12A3_HUMAN Solute carrier family 12 member 3 # RefSeq NP_000330 NM_000339.2 # RefSeq NP_001119579 NM_001126107.1 # RefSeq NP_001119580 NM_001126108.1 # SIMILARITY Belongs to the SLC12A transporter family. {ECO 0000305}. # SUBCELLULAR LOCATION S12A3_HUMAN Cell membrane {ECO 0000269|PubMed 22009145}; Multi-pass membrane protein. # SUBUNIT S12A3_HUMAN Interacts with KLHL3 (PubMed 22406640). Interacts with IL18R1; this interaction is increased by IL18 treatment (By similarity). {ECO 0000250|UniProtKB P59158, ECO 0000269|PubMed 22406640}. # TCDB 2.A.30.4 the cation-chloride cotransporter (ccc) family # TIGRFAMs TIGR00930 2a30 # TISSUE SPECIFICITY S12A3_HUMAN Predominantly expressed in kidney (PubMed 8812482). Not detected in normal aorta, but abundantly expressed in fatty streaks and advanced atherosclerotic lesions (at protein level) (PubMed 26099046). {ECO 0000269|PubMed 26099046, ECO 0000269|PubMed 8812482}. # UCSC uc002ekd human. [P55017-1] # eggNOG COG0531 LUCA # eggNOG KOG2083 Eukaryota BLAST swissprot:S12A3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S12A3_HUMAN BioCyc ZFISH:ENSG00000070915-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000070915-MONOMER COXPRESdb 6559 http://coxpresdb.jp/data/gene/6559.shtml CleanEx HS_SLC12A3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC12A3 DOI 10.1002/humu.9045 http://dx.doi.org/10.1002/humu.9045 DOI 10.1006/geno.1996.0388 http://dx.doi.org/10.1006/geno.1996.0388 DOI 10.1007/s12020-007-0024-9 http://dx.doi.org/10.1007/s12020-007-0024-9 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/ejhg.2011.189 http://dx.doi.org/10.1038/ejhg.2011.189 DOI 10.1038/nature03187 http://dx.doi.org/10.1038/nature03187 DOI 10.1038/ng.2218 http://dx.doi.org/10.1038/ng.2218 DOI 10.1038/ng0196-24 http://dx.doi.org/10.1038/ng0196-24 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1038/nm.3890 http://dx.doi.org/10.1038/nm.3890 DOI 10.1046/j.1365-2265.2002.01223.x http://dx.doi.org/10.1046/j.1365-2265.2002.01223.x DOI 10.1046/j.1523-1755.1998.00070.x http://dx.doi.org/10.1046/j.1523-1755.1998.00070.x DOI 10.1046/j.1523-1755.2001.059002710.x http://dx.doi.org/10.1046/j.1523-1755.2001.059002710.x DOI 10.1080/10425170701400456 http://dx.doi.org/10.1080/10425170701400456 DOI 10.1093/ndt/gfh239 http://dx.doi.org/10.1093/ndt/gfh239 DOI 10.1097/HJH.0b013e3282a9be1b http://dx.doi.org/10.1097/HJH.0b013e3282a9be1b DOI 10.1152/ajpcell.00070.2011 http://dx.doi.org/10.1152/ajpcell.00070.2011 DOI 10.1161/01.HYP.36.3.389 http://dx.doi.org/10.1161/01.HYP.36.3.389 DOI 10.1210/jc.2004-1905 http://dx.doi.org/10.1210/jc.2004-1905 DOI 10.1210/jc.81.12.4496 http://dx.doi.org/10.1210/jc.81.12.4496 DOI 10.1507/endocrj.49.91 http://dx.doi.org/10.1507/endocrj.49.91 DrugBank DB00436 http://www.drugbank.ca/drugs/DB00436 DrugBank DB00524 http://www.drugbank.ca/drugs/DB00524 DrugBank DB00562 http://www.drugbank.ca/drugs/DB00562 DrugBank DB00880 http://www.drugbank.ca/drugs/DB00880 DrugBank DB00999 http://www.drugbank.ca/drugs/DB00999 DrugBank DB01119 http://www.drugbank.ca/drugs/DB01119 DrugBank DB01324 http://www.drugbank.ca/drugs/DB01324 DrugBank DB01325 http://www.drugbank.ca/drugs/DB01325 EMBL AC012181 http://www.ebi.ac.uk/ena/data/view/AC012181 EMBL AK315298 http://www.ebi.ac.uk/ena/data/view/AK315298 EMBL U44128 http://www.ebi.ac.uk/ena/data/view/U44128 EMBL X91220 http://www.ebi.ac.uk/ena/data/view/X91220 Ensembl ENST00000438926 http://www.ensembl.org/id/ENST00000438926 Ensembl ENST00000563236 http://www.ensembl.org/id/ENST00000563236 Ensembl ENST00000566786 http://www.ensembl.org/id/ENST00000566786 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0005215 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005215 GO_function GO:0015378 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015378 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0006811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006811 GO_process GO:0006814 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006814 GO_process GO:0035725 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035725 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC12A3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC12A3 GeneID 6559 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6559 GeneTree ENSGT00760000119053 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119053 HGNC HGNC:10912 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10912 HOGENOM HOG000062855 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000062855&db=HOGENOM6 HOVERGEN HBG052851 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052851&db=HOVERGEN HPA HPA028748 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA028748 InParanoid P55017 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P55017 InterPro IPR002948 http://www.ebi.ac.uk/interpro/entry/IPR002948 InterPro IPR004841 http://www.ebi.ac.uk/interpro/entry/IPR004841 InterPro IPR004842 http://www.ebi.ac.uk/interpro/entry/IPR004842 InterPro IPR013612 http://www.ebi.ac.uk/interpro/entry/IPR013612 InterPro IPR018491 http://www.ebi.ac.uk/interpro/entry/IPR018491 Jabion 6559 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6559 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Disease H00240 http://www.genome.jp/dbget-bin/www_bget?H00240 KEGG_Gene hsa:6559 http://www.genome.jp/dbget-bin/www_bget?hsa:6559 KEGG_Orthology KO:K14426 http://www.genome.jp/dbget-bin/www_bget?KO:K14426 MIM 263800 http://www.ncbi.nlm.nih.gov/omim/263800 MIM 600968 http://www.ncbi.nlm.nih.gov/omim/600968 OMA GPRKQRM http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=GPRKQRM Orphanet 358 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=358 OrthoDB EOG091G04G2 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G04G2 PANTHER PTHR11827:SF9 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11827:SF9 PRINTS PR01230 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01230 PSORT swissprot:S12A3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S12A3_HUMAN PSORT-B swissprot:S12A3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S12A3_HUMAN PSORT2 swissprot:S12A3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S12A3_HUMAN Pfam PF00324 http://pfam.xfam.org/family/PF00324 Pfam PF03522 http://pfam.xfam.org/family/PF03522 Pfam PF08403 http://pfam.xfam.org/family/PF08403 PharmGKB PA321 http://www.pharmgkb.org/do/serve?objId=PA321&objCls=Gene Phobius swissprot:S12A3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S12A3_HUMAN PhylomeDB P55017 http://phylomedb.org/?seqid=P55017 ProteinModelPortal P55017 http://www.proteinmodelportal.org/query/uniprot/P55017 PubMed 10616841 http://www.ncbi.nlm.nih.gov/pubmed/10616841 PubMed 10988270 http://www.ncbi.nlm.nih.gov/pubmed/10988270 PubMed 11168953 http://www.ncbi.nlm.nih.gov/pubmed/11168953 PubMed 11940055 http://www.ncbi.nlm.nih.gov/pubmed/11940055 PubMed 12008755 http://www.ncbi.nlm.nih.gov/pubmed/12008755 PubMed 12112667 http://www.ncbi.nlm.nih.gov/pubmed/12112667 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15069170 http://www.ncbi.nlm.nih.gov/pubmed/15069170 PubMed 15616553 http://www.ncbi.nlm.nih.gov/pubmed/15616553 PubMed 15687331 http://www.ncbi.nlm.nih.gov/pubmed/15687331 PubMed 16429844 http://www.ncbi.nlm.nih.gov/pubmed/16429844 PubMed 17654016 http://www.ncbi.nlm.nih.gov/pubmed/17654016 PubMed 17873326 http://www.ncbi.nlm.nih.gov/pubmed/17873326 PubMed 17885550 http://www.ncbi.nlm.nih.gov/pubmed/17885550 PubMed 21613606 http://www.ncbi.nlm.nih.gov/pubmed/21613606 PubMed 22009145 http://www.ncbi.nlm.nih.gov/pubmed/22009145 PubMed 22406640 http://www.ncbi.nlm.nih.gov/pubmed/22406640 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 26099046 http://www.ncbi.nlm.nih.gov/pubmed/26099046 PubMed 8528245 http://www.ncbi.nlm.nih.gov/pubmed/8528245 PubMed 8812482 http://www.ncbi.nlm.nih.gov/pubmed/8812482 PubMed 8900229 http://www.ncbi.nlm.nih.gov/pubmed/8900229 PubMed 8954067 http://www.ncbi.nlm.nih.gov/pubmed/8954067 PubMed 9734597 http://www.ncbi.nlm.nih.gov/pubmed/9734597 Reactome R-HSA-426117 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-426117 RefSeq NP_000330 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000330 RefSeq NP_001119579 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001119579 RefSeq NP_001119580 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001119580 STRING 9606.ENSP00000402152 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000402152&targetmode=cogs TCDB 2.A.30.4 http://www.tcdb.org/search/result.php?tc=2.A.30.4 TIGRFAMs TIGR00930 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00930 UCSC uc002ekd http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002ekd&org=rat UniGene Hs.669115 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.669115 UniProtKB S12A3_HUMAN http://www.uniprot.org/uniprot/S12A3_HUMAN UniProtKB-AC P55017 http://www.uniprot.org/uniprot/P55017 charge swissprot:S12A3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S12A3_HUMAN eggNOG COG0531 http://eggnogapi.embl.de/nog_data/html/tree/COG0531 eggNOG KOG2083 http://eggnogapi.embl.de/nog_data/html/tree/KOG2083 epestfind swissprot:S12A3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S12A3_HUMAN garnier swissprot:S12A3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S12A3_HUMAN helixturnhelix swissprot:S12A3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S12A3_HUMAN hmoment swissprot:S12A3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S12A3_HUMAN iep swissprot:S12A3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S12A3_HUMAN inforesidue swissprot:S12A3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S12A3_HUMAN neXtProt NX_P55017 http://www.nextprot.org/db/entry/NX_P55017 octanol swissprot:S12A3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S12A3_HUMAN pepcoil swissprot:S12A3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S12A3_HUMAN pepdigest swissprot:S12A3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S12A3_HUMAN pepinfo swissprot:S12A3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S12A3_HUMAN pepnet swissprot:S12A3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S12A3_HUMAN pepstats swissprot:S12A3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S12A3_HUMAN pepwheel swissprot:S12A3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S12A3_HUMAN pepwindow swissprot:S12A3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S12A3_HUMAN sigcleave swissprot:S12A3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S12A3_HUMAN ## Database ID URL or Descriptions # Ensembl ENST00000284288 ENSP00000284288; ENSG00000154143 # FUNCTION PANX3_HUMAN Structural component of the gap junctions and the hemichannels. # GO_component GO:0005886 plasma membrane; IBA:GO_Central. # GO_component GO:0005921 gap junction; IEA:UniProtKB-SubCell. # GO_component GO:0012505 endomembrane system; IBA:GO_Central. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0022829 wide pore channel activity; IBA:GO_Central. # GO_function GO:0055077 gap junction hemi-channel activity; ISS:UniProtKB. # GO_process GO:0006812 cation transport; IBA:GO_Central. # GO_process GO:0007267 cell-cell signaling; IBA:GO_Central. # GO_process GO:0034214 protein hexamerization; ISS:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # GOslim_process GO:0007267 cell-cell signaling # Genevisible Q96QZ0 HS # HGNC HGNC:20573 PANX3 # InterPro IPR000990 Innexin # KEGG_Brite ko02000 Transporters # MIM 608422 gene # Organism PANX3_HUMAN Homo sapiens (Human) # PROSITE PS51013 PANNEXIN # Pfam PF00876 Innexin # Proteomes UP000005640 Chromosome 11 # RecName PANX3_HUMAN Pannexin-3 # RefSeq NP_443191 NM_052959.2 # SIMILARITY Belongs to the pannexin family. {ECO:0000255|PROSITE- ProRule PRU00351}. # SUBCELLULAR LOCATION PANX3_HUMAN Cell membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000255|PROSITE-ProRule PRU00351}. Cell junction, gap junction. # TCDB 1.A.25.2 the gap junction-forming innexin (innexin) family # UCSC uc001qah human # WEB RESOURCE PANX3_HUMAN Name=Wikipedia; Note=Pannexin entry; URL="https //en.wikipedia.org/wiki/Pannexin"; # eggNOG ENOG410IE65 Eukaryota # eggNOG ENOG410ZSQN LUCA BLAST swissprot:PANX3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:PANX3_HUMAN COXPRESdb 116337 http://coxpresdb.jp/data/gene/116337.shtml CleanEx HS_PANX3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_PANX3 DOI 10.1016/j.ygeno.2003.09.025 http://dx.doi.org/10.1016/j.ygeno.2003.09.025 EMBL AF406650 http://www.ebi.ac.uk/ena/data/view/AF406650 Ensembl ENST00000284288 http://www.ensembl.org/id/ENST00000284288 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005921 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005921 GO_component GO:0012505 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0012505 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0022829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022829 GO_function GO:0055077 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055077 GO_process GO:0006812 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006812 GO_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GO_process GO:0034214 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034214 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GeneCards PANX3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=PANX3 GeneID 116337 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=116337 GeneTree ENSGT00390000009703 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000009703 HGNC HGNC:20573 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:20573 HOGENOM HOG000063721 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000063721&db=HOGENOM6 HOVERGEN HBG053497 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG053497&db=HOVERGEN InParanoid Q96QZ0 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q96QZ0 IntAct Q96QZ0 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q96QZ0* InterPro IPR000990 http://www.ebi.ac.uk/interpro/entry/IPR000990 Jabion 116337 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=116337 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Gene hsa:116337 http://www.genome.jp/dbget-bin/www_bget?hsa:116337 KEGG_Orthology KO:K03443 http://www.genome.jp/dbget-bin/www_bget?KO:K03443 MIM 608422 http://www.ncbi.nlm.nih.gov/omim/608422 OMA KMFPYSL http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=KMFPYSL OrthoDB EOG091G086D http://cegg.unige.ch/orthodb/results?searchtext=EOG091G086D PROSITE PS51013 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51013 PSORT swissprot:PANX3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:PANX3_HUMAN PSORT-B swissprot:PANX3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:PANX3_HUMAN PSORT2 swissprot:PANX3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:PANX3_HUMAN Pfam PF00876 http://pfam.xfam.org/family/PF00876 PharmGKB PA134920643 http://www.pharmgkb.org/do/serve?objId=PA134920643&objCls=Gene Phobius swissprot:PANX3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:PANX3_HUMAN PhylomeDB Q96QZ0 http://phylomedb.org/?seqid=Q96QZ0 ProteinModelPortal Q96QZ0 http://www.proteinmodelportal.org/query/uniprot/Q96QZ0 PubMed 15028292 http://www.ncbi.nlm.nih.gov/pubmed/15028292 RefSeq NP_443191 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_443191 SMR Q96QZ0 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q96QZ0 STRING 9606.ENSP00000284288 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000284288&targetmode=cogs TCDB 1.A.25.2 http://www.tcdb.org/search/result.php?tc=1.A.25.2 UCSC uc001qah http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001qah&org=rat UniGene Hs.99235 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.99235 UniProtKB PANX3_HUMAN http://www.uniprot.org/uniprot/PANX3_HUMAN UniProtKB-AC Q96QZ0 http://www.uniprot.org/uniprot/Q96QZ0 charge swissprot:PANX3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:PANX3_HUMAN eggNOG ENOG410IE65 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IE65 eggNOG ENOG410ZSQN http://eggnogapi.embl.de/nog_data/html/tree/ENOG410ZSQN epestfind swissprot:PANX3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:PANX3_HUMAN garnier swissprot:PANX3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:PANX3_HUMAN helixturnhelix swissprot:PANX3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:PANX3_HUMAN hmoment swissprot:PANX3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:PANX3_HUMAN iep swissprot:PANX3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:PANX3_HUMAN inforesidue swissprot:PANX3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:PANX3_HUMAN neXtProt NX_Q96QZ0 http://www.nextprot.org/db/entry/NX_Q96QZ0 octanol swissprot:PANX3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:PANX3_HUMAN pepcoil swissprot:PANX3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:PANX3_HUMAN pepdigest swissprot:PANX3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:PANX3_HUMAN pepinfo swissprot:PANX3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:PANX3_HUMAN pepnet swissprot:PANX3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:PANX3_HUMAN pepstats swissprot:PANX3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:PANX3_HUMAN pepwheel swissprot:PANX3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:PANX3_HUMAN pepwindow swissprot:PANX3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:PANX3_HUMAN sigcleave swissprot:PANX3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:PANX3_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS SC5AB_HUMAN Event=Alternative splicing; Named isoforms=6; Name=1 {ECO 0000269|PubMed 12039040}; IsoId=Q8WWX8-1; Sequence=Displayed; Name=2 {ECO 0000269|PubMed 12039040}; IsoId=Q8WWX8-2; Sequence=VSP_052790; Name=3 {ECO 0000269|PubMed 15489334}; IsoId=Q8WWX8-3; Sequence=VSP_052789; Note=No experimental confirmation available. {ECO 0000305}; Name=4; IsoId=Q8WWX8-4; Sequence=VSP_033259; Note=No experimental confirmation available.; Name=5; IsoId=Q8WWX8-5; Sequence=VSP_045034, VSP_052790; Note=No experimental confirmation available.; Name=6; IsoId=Q8WWX8-6; Sequence=VSP_052789, VSP_045035, VSP_045036; Note=No experimental confirmation available.; # AltName SC5AB_HUMAN Sodium-dependent glucose cotransporter # AltName SC5AB_HUMAN Sodium/glucose cotransporter KST1 # AltName SC5AB_HUMAN Sodium/myo-inositol transporter 2 # AltName SC5AB_HUMAN Solute carrier family 5 member 11 # BioGrid 125441 2 # CCDS CCDS10625 -. [Q8WWX8-1] # CCDS CCDS58437 -. [Q8WWX8-2] # CCDS CCDS58438 -. [Q8WWX8-5] # CCDS CCDS58439 -. [Q8WWX8-3] # CCDS CCDS58440 -. [Q8WWX8-6] # Ensembl ENST00000347898 ENSP00000289932; ENSG00000158865. [Q8WWX8-1] # Ensembl ENST00000424767 ENSP00000416782; ENSG00000158865. [Q8WWX8-2] # Ensembl ENST00000449109 ENSP00000389606; ENSG00000158865. [Q8WWX8-6] # Ensembl ENST00000545376 ENSP00000441384; ENSG00000158865. [Q8WWX8-5] # Ensembl ENST00000565769 ENSP00000457179; ENSG00000158865. [Q8WWX8-3] # Ensembl ENST00000567758 ENSP00000454401; ENSG00000158865. [Q8WWX8-2] # Ensembl ENST00000568579 ENSP00000456234; ENSG00000158865. [Q8WWX8-5] # Ensembl ENST00000569071 ENSP00000456376; ENSG00000158865. [Q8WWX8-6] # ExpressionAtlas Q8WWX8 baseline and differential # FUNCTION SC5AB_HUMAN Involved in the sodium-dependent cotransport of myo- inositol (MI) with a Na(+) MI stoichiometry of 2 1. Exclusively responsible for apical MI transport and absorption in intestine. Also can transport D-chiro-inositol (DCI) but not L-fructose. Exhibits stereospecific cotransport of both D-glucose and D- xylose. May induce apoptosis through the TNF-alpha, PDCD1 pathway. May play a role in the regulation of MI concentration in serum, involving reabsorption in at least the proximal tubule of the kidney. {ECO 0000269|PubMed 15172003}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_function GO:0015166 polyol transmembrane transporter activity; TAS:Reactome. # GO_function GO:0015293 symporter activity; IBA:GO_Central. # GO_process GO:0006814 sodium ion transport; IEA:UniProtKB-KW. # GO_process GO:0006915 apoptotic process; IEA:UniProtKB-KW. # GO_process GO:0008643 carbohydrate transport; IEA:UniProtKB-KW. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008219 cell death # Genevisible Q8WWX8 HS # HGNC HGNC:23091 SLC5A11 # INTERACTION SC5AB_HUMAN Q8IYQ9 KPNA3; NbExp=3; IntAct=EBI-10277669, EBI-742146; # InterPro IPR001734 Na/solute_symporter # KEGG_Brite ko02001 Solute carrier family # MIM 610238 gene # MISCELLANEOUS SC5AB_HUMAN Acts as an autoimmune modifier in systemic lupus erythematosus (SLE) as it is significantly associated with low complement component 4 (C4), anti-Smith antibody, serositis, and alopecia. # Organism SC5AB_HUMAN Homo sapiens (Human) # PANTHER PTHR11819 PTHR11819; 2 # PROSITE PS50283 NA_SOLUT_SYMP_3 # Pfam PF00474 SSF # Proteomes UP000005640 Chromosome 16 # Reactome R-HSA-429593 Inositol transporters # RecName SC5AB_HUMAN Sodium/myo-inositol cotransporter 2 # RefSeq NP_001245340 NM_001258411.2. [Q8WWX8-2] # RefSeq NP_001245341 NM_001258412.2. [Q8WWX8-5] # RefSeq NP_001245342 NM_001258413.2. [Q8WWX8-3] # RefSeq NP_001245343 NM_001258414.1. [Q8WWX8-6] # RefSeq NP_443176 NM_052944.4. [Q8WWX8-1] # RefSeq XP_005255137 XM_005255080.2. [Q8WWX8-1] # RefSeq XP_016878389 XM_017022900.1. [Q8WWX8-1] # RefSeq XP_016878390 XM_017022901.1. [Q8WWX8-1] # RefSeq XP_016878391 XM_017022902.1. [Q8WWX8-1] # RefSeq XP_016878392 XM_017022903.1. [Q8WWX8-1] # RefSeq XP_016878394 XM_017022905.1. [Q8WWX8-2] # RefSeq XP_016878395 XM_017022906.1. [Q8WWX8-3] # SIMILARITY Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family. {ECO 0000255}. # SUBCELLULAR LOCATION SC5AB_HUMAN Membrane {ECO 0000250|UniProtKB Q28728}; Multi-pass membrane protein {ECO 0000250|UniProtKB Q28728}. # TCDB 2.A.21.3:the solute sodium symporter (sss) family # TIGRFAMs TIGR00813 sss # TISSUE SPECIFICITY Highest expression in heart, skeletal muscle, kidney, liver and placenta. Weaker expression in brain, colon, spleen, lung and peripheral blood leukocytes. {ECO:0000269|PubMed 12039040}. # UCSC uc002dms human. [Q8WWX8-1] # eggNOG COG4146 LUCA # eggNOG ENOG410IP49 Eukaryota BLAST swissprot:SC5AB_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SC5AB_HUMAN BioCyc ZFISH:ENSG00000158865-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000158865-MONOMER COXPRESdb 115584 http://coxpresdb.jp/data/gene/115584.shtml CleanEx HS_SLC5A11 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC5A11 DOI 10.1016/S0378-1119(02)00416-X http://dx.doi.org/10.1016/S0378-1119(02)00416-X DOI 10.1016/j.ymgme.2004.03.007 http://dx.doi.org/10.1016/j.ymgme.2004.03.007 DOI 10.1038/nature03187 http://dx.doi.org/10.1038/nature03187 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1399-0039.2007.00975.x http://dx.doi.org/10.1111/j.1399-0039.2007.00975.x EMBL AC008731 http://www.ebi.ac.uk/ena/data/view/AC008731 EMBL AF292385 http://www.ebi.ac.uk/ena/data/view/AF292385 EMBL AJ305237 http://www.ebi.ac.uk/ena/data/view/AJ305237 EMBL AK125267 http://www.ebi.ac.uk/ena/data/view/AK125267 EMBL AK295427 http://www.ebi.ac.uk/ena/data/view/AK295427 EMBL AY044906 http://www.ebi.ac.uk/ena/data/view/AY044906 EMBL BC049385 http://www.ebi.ac.uk/ena/data/view/BC049385 EMBL BC057780 http://www.ebi.ac.uk/ena/data/view/BC057780 EMBL CH471145 http://www.ebi.ac.uk/ena/data/view/CH471145 Ensembl ENST00000347898 http://www.ensembl.org/id/ENST00000347898 Ensembl ENST00000424767 http://www.ensembl.org/id/ENST00000424767 Ensembl ENST00000449109 http://www.ensembl.org/id/ENST00000449109 Ensembl ENST00000545376 http://www.ensembl.org/id/ENST00000545376 Ensembl ENST00000565769 http://www.ensembl.org/id/ENST00000565769 Ensembl ENST00000567758 http://www.ensembl.org/id/ENST00000567758 Ensembl ENST00000568579 http://www.ensembl.org/id/ENST00000568579 Ensembl ENST00000569071 http://www.ensembl.org/id/ENST00000569071 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0015166 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015166 GO_function GO:0015293 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015293 GO_process GO:0006814 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006814 GO_process GO:0006915 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006915 GO_process GO:0008643 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008643 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008219 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008219 GeneCards SLC5A11 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC5A11 GeneID 115584 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=115584 GeneTree ENSGT00760000118955 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118955 H-InvDB HIX0026944 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0026944 HGNC HGNC:23091 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:23091 HOGENOM HOG000025422 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000025422&db=HOGENOM6 HOVERGEN HBG052859 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052859&db=HOVERGEN HPA HPA035331 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA035331 InParanoid Q8WWX8 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8WWX8 IntAct Q8WWX8 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q8WWX8* InterPro IPR001734 http://www.ebi.ac.uk/interpro/entry/IPR001734 Jabion 115584 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=115584 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:115584 http://www.genome.jp/dbget-bin/www_bget?hsa:115584 KEGG_Orthology KO:K14391 http://www.genome.jp/dbget-bin/www_bget?KO:K14391 MIM 610238 http://www.ncbi.nlm.nih.gov/omim/610238 OMA KTHSCDM http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=KTHSCDM OrthoDB EOG091G077U http://cegg.unige.ch/orthodb/results?searchtext=EOG091G077U PANTHER PTHR11819 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11819 PROSITE PS50283 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50283 PSORT swissprot:SC5AB_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SC5AB_HUMAN PSORT-B swissprot:SC5AB_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SC5AB_HUMAN PSORT2 swissprot:SC5AB_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SC5AB_HUMAN Pfam PF00474 http://pfam.xfam.org/family/PF00474 PharmGKB PA134923660 http://www.pharmgkb.org/do/serve?objId=PA134923660&objCls=Gene Phobius swissprot:SC5AB_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SC5AB_HUMAN PhylomeDB Q8WWX8 http://phylomedb.org/?seqid=Q8WWX8 ProteinModelPortal Q8WWX8 http://www.proteinmodelportal.org/query/uniprot/Q8WWX8 PubMed 12039040 http://www.ncbi.nlm.nih.gov/pubmed/12039040 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15172003 http://www.ncbi.nlm.nih.gov/pubmed/15172003 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15616553 http://www.ncbi.nlm.nih.gov/pubmed/15616553 PubMed 18069935 http://www.ncbi.nlm.nih.gov/pubmed/18069935 Reactome R-HSA-429593 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-429593 RefSeq NP_001245340 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001245340 RefSeq NP_001245341 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001245341 RefSeq NP_001245342 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001245342 RefSeq NP_001245343 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001245343 RefSeq NP_443176 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_443176 RefSeq XP_005255137 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005255137 RefSeq XP_016878389 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016878389 RefSeq XP_016878390 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016878390 RefSeq XP_016878391 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016878391 RefSeq XP_016878392 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016878392 RefSeq XP_016878394 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016878394 RefSeq XP_016878395 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016878395 STRING 9606.ENSP00000289932 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000289932&targetmode=cogs TCDB 2.A.21.3 http://www.tcdb.org/search/result.php?tc=2.A.21.3 TIGRFAMs TIGR00813 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00813 UCSC uc002dms http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002dms&org=rat UniGene Hs.164118 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.164118 UniProtKB SC5AB_HUMAN http://www.uniprot.org/uniprot/SC5AB_HUMAN UniProtKB-AC Q8WWX8 http://www.uniprot.org/uniprot/Q8WWX8 charge swissprot:SC5AB_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SC5AB_HUMAN eggNOG COG4146 http://eggnogapi.embl.de/nog_data/html/tree/COG4146 eggNOG ENOG410IP49 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IP49 epestfind swissprot:SC5AB_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SC5AB_HUMAN garnier swissprot:SC5AB_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SC5AB_HUMAN helixturnhelix swissprot:SC5AB_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SC5AB_HUMAN hmoment swissprot:SC5AB_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SC5AB_HUMAN iep swissprot:SC5AB_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SC5AB_HUMAN inforesidue swissprot:SC5AB_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SC5AB_HUMAN neXtProt NX_Q8WWX8 http://www.nextprot.org/db/entry/NX_Q8WWX8 octanol swissprot:SC5AB_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SC5AB_HUMAN pepcoil swissprot:SC5AB_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SC5AB_HUMAN pepdigest swissprot:SC5AB_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SC5AB_HUMAN pepinfo swissprot:SC5AB_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SC5AB_HUMAN pepnet swissprot:SC5AB_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SC5AB_HUMAN pepstats swissprot:SC5AB_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SC5AB_HUMAN pepwheel swissprot:SC5AB_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SC5AB_HUMAN pepwindow swissprot:SC5AB_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SC5AB_HUMAN sigcleave swissprot:SC5AB_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SC5AB_HUMAN ## Database ID URL or Descriptions # AltName VP26B_HUMAN Vesicle protein sorting 26B # BioGrid 125215 46 # ChiTaRS VPS26B human # Ensembl ENST00000281187 ENSP00000281187; ENSG00000151502 # Ensembl ENST00000525095 ENSP00000434162; ENSG00000151502 # ExpressionAtlas Q4G0F5 baseline and differential # FUNCTION VP26B_HUMAN Acts as component of the retromer cargo-selective complex (CSC). The CSC is believed to be the core functional component of retromer or respective retromer complex variants acting to prevent missorting of selected transmembrane cargo proteins into the lysosomal degradation pathway. The recruitment of the CSC to the endosomal membrane involves RAB7A and SNX3. The SNX-BAR retromer mediates retrograde transport of cargo proteins from endosomes to the trans-Golgi network (TGN) and is involved in endosome-to-plasma membrane transport for cargo protein recycling. The SNX3-retromer mediates the retrograde transport of WLS distinct from the SNX-BAR retromer pathway. The SNX27-retromer is believed to be involved in endosome-to-plasma membrane trafficking and recycling of a broad spectrum of cargo proteins. The CSC seems to act as recruitment hub for other proteins, such as the WASH complex and TBC1D5. May be involved in retrograde transport of SORT1 but not of IGF2R. Acts redundantly with VSP26A in SNX-27 mediated endocytic recycling of SLC2A1/GLUT1 (By similarity). {ECO 0000250|UniProtKB O75436, ECO 0000250|UniProtKB Q8C0E2}. # GO_component GO:0005768 endosome; IBA:GO_Central. # GO_component GO:0005769 early endosome; ISS:UniProtKB. # GO_component GO:0005770 late endosome; ISS:UniProtKB. # GO_component GO:0005829 cytosol; ISS:UniProtKB. # GO_component GO:0030904 retromer complex; ISS:UniProtKB. # GO_component GO:0030906 retromer, cargo-selective complex; NAS:ParkinsonsUK-UCL. # GO_function GO:0008565 protein transporter activity; IBA:GO_Central. # GO_process GO:0006886 intracellular protein transport; IBA:GO_Central. # GO_process GO:0016241 regulation of macroautophagy; TAS:ParkinsonsUK-UCL. # GO_process GO:0042147 retrograde transport, endosome to Golgi; ISS:UniProtKB. # GOslim_component GO:0005768 endosome # GOslim_component GO:0005829 cytosol # GOslim_component GO:0043234 protein complex # GOslim_function GO:0008565 protein transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0016192 vesicle-mediated transport # Genevisible Q4G0F5 HS # HGNC HGNC:28119 VPS26B # IntAct Q4G0F5 29 # InterPro IPR028934 Vps26-related # MIM 610027 gene # Organism VP26B_HUMAN Homo sapiens (Human) # Pfam PF03643 Vps26 # Proteomes UP000005640 Chromosome 11 # RecName VP26B_HUMAN Vacuolar protein sorting-associated protein 26B # RefSeq NP_443107 NM_052875.4 # SIMILARITY Belongs to the VPS26 family. {ECO 0000305}. # SUBCELLULAR LOCATION VP26B_HUMAN Cytoplasm {ECO 0000250|UniProtKB Q8C0E2}. Membrane; Peripheral membrane protein {ECO 0000250|UniProtKB Q8C0E2}. Early endosome {ECO 0000250|UniProtKB Q8C0E2}. Late endosome {ECO 0000250|UniProtKB Q8C0E2}. Note=Localizes to early and late endosomal structures (By similarity). {ECO 0000250|UniProtKB Q8C0E2}. # SUBUNIT VP26B_HUMAN Component of the heterotrimeric retromer cargo-selective complex (CSC), also described as vacuolar protein sorting VPS subcomplex (VPS,) formed by VPS26 (VPS26A or VPS26B), VPS29 and VPS35. The CSC has a highly elongated structure with VPS26 and VPS29 binding independently at opposite distal ends of VPS35 as central platform. The CSC is believed to associate with variable sorting nexins to form functionally distinct retromer complex variants. The originally described retromer complex (also called SNX-BAR retromer) is a pentamer containing the CSC and a heterodimeric membrane-deforming subcomplex formed between SNX1 or SNX2 and SNX5 or SNX6 (also called SNX-BAR subcomplex); the respective CSC and SNX-BAR subcomplexes associate with low affinity. The CSC associates with SNX3 to form a SNX3-retromer complex. The CSC associates with SNX27, the WASH complex and the SNX-BAR subcomplex to form the SNX27-retromer complex. Interacts with VPS29, VPS35, TBC1D5, GOLPH3, SNX27 (By similarity). {ECO 0000250|UniProtKB O75436, ECO 0000250|UniProtKB Q8C0E2}. # UCSC uc001qhe human # eggNOG ENOG410XSI1 LUCA # eggNOG KOG3063 Eukaryota BLAST swissprot:VP26B_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:VP26B_HUMAN COXPRESdb 112936 http://coxpresdb.jp/data/gene/112936.shtml CleanEx HS_VPS26B http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_VPS26B DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/ac9004309 http://dx.doi.org/10.1021/ac9004309 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/scisignal.2000007 http://dx.doi.org/10.1126/scisignal.2000007 DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 DOI 10.1126/scisignal.2001570 http://dx.doi.org/10.1126/scisignal.2001570 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AF452718 http://www.ebi.ac.uk/ena/data/view/AF452718 EMBL BC009747 http://www.ebi.ac.uk/ena/data/view/BC009747 EMBL BC014128 http://www.ebi.ac.uk/ena/data/view/BC014128 EMBL BC098386 http://www.ebi.ac.uk/ena/data/view/BC098386 Ensembl ENST00000281187 http://www.ensembl.org/id/ENST00000281187 Ensembl ENST00000525095 http://www.ensembl.org/id/ENST00000525095 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GO_component GO:0005769 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005769 GO_component GO:0005770 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005770 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0030904 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030904 GO_component GO:0030906 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030906 GO_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GO_process GO:0006886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006886 GO_process GO:0016241 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016241 GO_process GO:0042147 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042147 GOslim_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0016192 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016192 GeneCards VPS26B http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=VPS26B GeneID 112936 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=112936 GeneTree ENSGT00390000002588 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000002588 HGNC HGNC:28119 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:28119 HOGENOM HOG000191799 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000191799&db=HOGENOM6 HOVERGEN HBG082914 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG082914&db=HOVERGEN HPA HPA038172 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA038172 InParanoid Q4G0F5 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q4G0F5 IntAct Q4G0F5 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q4G0F5* InterPro IPR028934 http://www.ebi.ac.uk/interpro/entry/IPR028934 Jabion 112936 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=112936 KEGG_Gene hsa:112936 http://www.genome.jp/dbget-bin/www_bget?hsa:112936 MIM 610027 http://www.ncbi.nlm.nih.gov/omim/610027 OMA GKRLEHH http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=GKRLEHH OrthoDB EOG091G09TQ http://cegg.unige.ch/orthodb/results?searchtext=EOG091G09TQ PSORT swissprot:VP26B_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:VP26B_HUMAN PSORT-B swissprot:VP26B_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:VP26B_HUMAN PSORT2 swissprot:VP26B_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:VP26B_HUMAN Pfam PF03643 http://pfam.xfam.org/family/PF03643 PharmGKB PA128394747 http://www.pharmgkb.org/do/serve?objId=PA128394747&objCls=Gene Phobius swissprot:VP26B_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:VP26B_HUMAN PhylomeDB Q4G0F5 http://phylomedb.org/?seqid=Q4G0F5 ProteinModelPortal Q4G0F5 http://www.proteinmodelportal.org/query/uniprot/Q4G0F5 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 19413330 http://www.ncbi.nlm.nih.gov/pubmed/19413330 PubMed 19690332 http://www.ncbi.nlm.nih.gov/pubmed/19690332 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 21406692 http://www.ncbi.nlm.nih.gov/pubmed/21406692 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 RefSeq NP_443107 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_443107 SMR Q4G0F5 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q4G0F5 STRING 9606.ENSP00000281187 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000281187&targetmode=cogs UCSC uc001qhe http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001qhe&org=rat UniGene Hs.334684 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.334684 UniProtKB VP26B_HUMAN http://www.uniprot.org/uniprot/VP26B_HUMAN UniProtKB-AC Q4G0F5 http://www.uniprot.org/uniprot/Q4G0F5 charge swissprot:VP26B_HUMAN http://rest.g-language.org/emboss/charge/swissprot:VP26B_HUMAN eggNOG ENOG410XSI1 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XSI1 eggNOG KOG3063 http://eggnogapi.embl.de/nog_data/html/tree/KOG3063 epestfind swissprot:VP26B_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:VP26B_HUMAN garnier swissprot:VP26B_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:VP26B_HUMAN helixturnhelix swissprot:VP26B_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:VP26B_HUMAN hmoment swissprot:VP26B_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:VP26B_HUMAN iep swissprot:VP26B_HUMAN http://rest.g-language.org/emboss/iep/swissprot:VP26B_HUMAN inforesidue swissprot:VP26B_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:VP26B_HUMAN neXtProt NX_Q4G0F5 http://www.nextprot.org/db/entry/NX_Q4G0F5 octanol swissprot:VP26B_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:VP26B_HUMAN pepcoil swissprot:VP26B_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:VP26B_HUMAN pepdigest swissprot:VP26B_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:VP26B_HUMAN pepinfo swissprot:VP26B_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:VP26B_HUMAN pepnet swissprot:VP26B_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:VP26B_HUMAN pepstats swissprot:VP26B_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:VP26B_HUMAN pepwheel swissprot:VP26B_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:VP26B_HUMAN pepwindow swissprot:VP26B_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:VP26B_HUMAN sigcleave swissprot:VP26B_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:VP26B_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS VPP3_HUMAN Event=Alternative splicing; Named isoforms=2; Name=Long; IsoId=Q13488-1; Sequence=Displayed; Name=Short; IsoId=Q13488-2; Sequence=VSP_000345; Note=No experimental confirmation available.; # AltName VPP3_HUMAN Osteoclastic proton pump 116 kDa subunit # AltName VPP3_HUMAN T-cell immune regulator 1 # AltName VPP3_HUMAN T-cell immune response cDNA7 protein # AltName VPP3_HUMAN Vacuolar proton translocating ATPase 116 kDa subunit a isoform 3 # BioGrid 115597 20 # CCDS CCDS53670 -. [Q13488-2] # CCDS CCDS8177 -. [Q13488-1] # ChiTaRS TCIRG1 human # DISEASE VPP3_HUMAN Osteopetrosis, autosomal recessive 1 (OPTB1) [MIM 259700] A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves. {ECO 0000269|PubMed 11532986, ECO 0000269|PubMed 12552563, ECO 0000269|PubMed 15300850}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000265686 ENSP00000265686; ENSG00000110719. [Q13488-1] # Ensembl ENST00000532635 ENSP00000434407; ENSG00000110719. [Q13488-2] # ExpressionAtlas Q13488 baseline and differential # FUNCTION VPP3_HUMAN Part of the proton channel of V-ATPases (By similarity). Seems to be directly involved in T-cell activation. {ECO 0000250}. # GO_component GO:0000220 vacuolar proton-transporting V-type ATPase, V0 domain; IEA:InterPro. # GO_component GO:0005739 mitochondrion; IEA:Ensembl. # GO_component GO:0005765 lysosomal membrane; IDA:UniProtKB. # GO_component GO:0005886 plasma membrane; TAS:ProtInc. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0010008 endosome membrane; TAS:Reactome. # GO_component GO:0016324 apical plasma membrane; IDA:UniProtKB. # GO_component GO:0016471 vacuolar proton-transporting V-type ATPase complex; IBA:GO_Central. # GO_component GO:0030670 phagocytic vesicle membrane; TAS:Reactome. # GO_function GO:0005215 transporter activity; TAS:ProtInc. # GO_function GO:0046961 proton-transporting ATPase activity, rotational mechanism; IBA:GO_Central. # GO_function GO:0051117 ATPase binding; IBA:GO_Central. # GO_process GO:0006968 cellular defense response; TAS:ProtInc. # GO_process GO:0007035 vacuolar acidification; IBA:GO_Central. # GO_process GO:0007039 protein catabolic process in the vacuole; ISS:ParkinsonsUK-UCL. # GO_process GO:0008284 positive regulation of cell proliferation; TAS:ProtInc. # GO_process GO:0008286 insulin receptor signaling pathway; TAS:Reactome. # GO_process GO:0015986 ATP synthesis coupled proton transport; IBA:GO_Central. # GO_process GO:0015991 ATP hydrolysis coupled proton transport; IEA:InterPro. # GO_process GO:0015992 proton transport; TAS:ProtInc. # GO_process GO:0016236 macroautophagy; ISS:ParkinsonsUK-UCL. # GO_process GO:0033572 transferrin transport; TAS:Reactome. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0070072 vacuolar proton-transporting V-type ATPase complex assembly; IBA:GO_Central. # GO_process GO:0090383 phagosome acidification; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005739 mitochondrion # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0019899 enzyme binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # GOslim_process GO:0006914 autophagy # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0009056 catabolic process # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0044281 small molecule metabolic process # GOslim_process GO:0055085 transmembrane transport # Genevisible Q13488 HS # HGNC HGNC:11647 TCIRG1 # IntAct Q13488 6 # InterPro IPR002490 V-ATPase_116kDa_su # InterPro IPR026028 V-type_ATPase_116kDa_su_euka # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Brite ko01000 Enzymes # KEGG_Disease H00436 [Skeletal dysplasia] Osteopetrosis, osteoclast poor # KEGG_Pathway ko00190 Oxidative phosphorylation # KEGG_Pathway ko04142 Lysosome # KEGG_Pathway ko04145 Phagosome # KEGG_Pathway ko04721 Synaptic vesicle cycle # KEGG_Pathway ko04966 Collecting duct acid secretion # KEGG_Pathway ko05110 Vibrio cholerae infection # KEGG_Pathway ko05120 Epithelial cell signaling in Helicobacter pylori infection # KEGG_Pathway ko05152 Tuberculosis # KEGG_Pathway ko05323 Rheumatoid arthritis # MIM 259700 phenotype # MIM 604592 gene # Organism VPP3_HUMAN Homo sapiens (Human) # Orphanet 486 Autosomal dominant severe congenital neutropenia # Orphanet 667 Autosomal recessive malignant osteopetrosis # PANTHER PTHR11629 PTHR11629 # PIRSF PIRSF001293 ATP6V0A1 # Pfam PF01496 V_ATPase_I # Proteomes UP000005640 Chromosome 11 # Reactome R-HSA-1222556 ROS, RNS production in response to bacteria # Reactome R-HSA-6798695 Neutrophil degranulation # Reactome R-HSA-77387 Insulin receptor recycling # Reactome R-HSA-917977 Transferrin endocytosis and recycling # Reactome R-HSA-983712 Ion channel transport # RecName VPP3_HUMAN V-type proton ATPase 116 kDa subunit a isoform 3 # RefSeq NP_006010 NM_006019.3. [Q13488-1] # RefSeq NP_006044 NM_006053.3. [Q13488-2] # RefSeq XP_005273766 XM_005273709.3. [Q13488-1] # RefSeq XP_011543028 XM_011544726.2. [Q13488-1] # SIMILARITY Belongs to the V-ATPase 116 kDa subunit family. {ECO 0000305}. # SUBCELLULAR LOCATION VPP3_HUMAN Membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. # SUBUNIT VPP3_HUMAN The V-ATPase is a heteromultimeric enzyme composed of at least thirteen different subunits. It has a membrane peripheral V1 sector for ATP hydrolysis and an integral V0 for proton translocation. The V1 sector comprises subunits A-H, whereas V0 includes subunits a, d, c, c', and c''. # TISSUE SPECIFICITY VPP3_HUMAN Isoform long is highly expressed in osteoclastomas. Isoform short is highly expressed in thymus. # UCSC uc001one human. [Q13488-1] # WEB RESOURCE VPP3_HUMAN Name=TCIRG1base; Note=TCIRG1 mutation db; URL="http //structure.bmc.lu.se/idbase/TCIRG1base/"; # eggNOG COG1269 LUCA # eggNOG KOG2189 Eukaryota BLAST swissprot:VPP3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:VPP3_HUMAN BioCyc MetaCyc:ENSG00000110719-MONOMER http://biocyc.org/getid?id=MetaCyc:ENSG00000110719-MONOMER BioCyc ZFISH:ENSG00000110719-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000110719-MONOMER COG COG1269 http://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=COG1269 COXPRESdb 10312 http://coxpresdb.jp/data/gene/10312.shtml CleanEx HS_TCIRG1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_TCIRG1 DOI 10.1002/humu.10165 http://dx.doi.org/10.1002/humu.10165 DOI 10.1002/humu.20076 http://dx.doi.org/10.1002/humu.20076 DOI 10.1006/bbrc.1996.0145 http://dx.doi.org/10.1006/bbrc.1996.0145 DOI 10.1006/geno.1999.5751 http://dx.doi.org/10.1006/geno.1999.5751 DOI 10.1093/hmg/10.17.1767 http://dx.doi.org/10.1093/hmg/10.17.1767 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AF025374 http://www.ebi.ac.uk/ena/data/view/AF025374 EMBL AF033033 http://www.ebi.ac.uk/ena/data/view/AF033033 EMBL BC018133 http://www.ebi.ac.uk/ena/data/view/BC018133 EMBL BC032465 http://www.ebi.ac.uk/ena/data/view/BC032465 EMBL CH471076 http://www.ebi.ac.uk/ena/data/view/CH471076 EMBL U45285 http://www.ebi.ac.uk/ena/data/view/U45285 Ensembl ENST00000265686 http://www.ensembl.org/id/ENST00000265686 Ensembl ENST00000532635 http://www.ensembl.org/id/ENST00000532635 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000220 GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005765 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005765 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0010008 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010008 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:0016471 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016471 GO_component GO:0030670 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030670 GO_function GO:0005215 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005215 GO_function GO:0046961 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046961 GO_function GO:0051117 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051117 GO_process GO:0006968 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006968 GO_process GO:0007035 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007035 GO_process GO:0007039 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007039 GO_process GO:0008284 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008284 GO_process GO:0008286 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008286 GO_process GO:0015986 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015986 GO_process GO:0015991 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015991 GO_process GO:0015992 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015992 GO_process GO:0016236 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016236 GO_process GO:0033572 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033572 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0070072 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070072 GO_process GO:0090383 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090383 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006914 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006914 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0009056 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009056 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards TCIRG1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=TCIRG1 GeneID 10312 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=10312 GeneTree ENSGT00390000004941 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000004941 HGNC HGNC:11647 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11647 HOGENOM HOG000037059 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000037059&db=HOGENOM6 HOVERGEN HBG014606 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG014606&db=HOVERGEN HPA HPA038742 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA038742 InParanoid Q13488 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q13488 IntAct Q13488 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q13488* InterPro IPR002490 http://www.ebi.ac.uk/interpro/entry/IPR002490 InterPro IPR026028 http://www.ebi.ac.uk/interpro/entry/IPR026028 Jabion 10312 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=10312 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00002 http://www.genome.jp/dbget-bin/www_bget?ko00002 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Disease H00436 http://www.genome.jp/dbget-bin/www_bget?H00436 KEGG_Gene hsa:10312 http://www.genome.jp/dbget-bin/www_bget?hsa:10312 KEGG_Orthology KO:K02154 http://www.genome.jp/dbget-bin/www_bget?KO:K02154 KEGG_Pathway ko00190 http://www.genome.jp/kegg-bin/show_pathway?ko00190 KEGG_Pathway ko04142 http://www.genome.jp/kegg-bin/show_pathway?ko04142 KEGG_Pathway ko04145 http://www.genome.jp/kegg-bin/show_pathway?ko04145 KEGG_Pathway ko04721 http://www.genome.jp/kegg-bin/show_pathway?ko04721 KEGG_Pathway ko04966 http://www.genome.jp/kegg-bin/show_pathway?ko04966 KEGG_Pathway ko05110 http://www.genome.jp/kegg-bin/show_pathway?ko05110 KEGG_Pathway ko05120 http://www.genome.jp/kegg-bin/show_pathway?ko05120 KEGG_Pathway ko05152 http://www.genome.jp/kegg-bin/show_pathway?ko05152 KEGG_Pathway ko05323 http://www.genome.jp/kegg-bin/show_pathway?ko05323 MIM 259700 http://www.ncbi.nlm.nih.gov/omim/259700 MIM 604592 http://www.ncbi.nlm.nih.gov/omim/604592 OMA MFLFSHS http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=MFLFSHS Orphanet 486 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=486 Orphanet 667 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=667 OrthoDB EOG091G031W http://cegg.unige.ch/orthodb/results?searchtext=EOG091G031W PANTHER PTHR11629 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11629 PSORT swissprot:VPP3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:VPP3_HUMAN PSORT-B swissprot:VPP3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:VPP3_HUMAN PSORT2 swissprot:VPP3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:VPP3_HUMAN Pfam PF01496 http://pfam.xfam.org/family/PF01496 PharmGKB PA36399 http://www.pharmgkb.org/do/serve?objId=PA36399&objCls=Gene Phobius swissprot:VPP3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:VPP3_HUMAN PhylomeDB Q13488 http://phylomedb.org/?seqid=Q13488 ProteinModelPortal Q13488 http://www.proteinmodelportal.org/query/uniprot/Q13488 PubMed 10329006 http://www.ncbi.nlm.nih.gov/pubmed/10329006 PubMed 11532986 http://www.ncbi.nlm.nih.gov/pubmed/11532986 PubMed 12552563 http://www.ncbi.nlm.nih.gov/pubmed/12552563 PubMed 15300850 http://www.ncbi.nlm.nih.gov/pubmed/15300850 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 8579597 http://www.ncbi.nlm.nih.gov/pubmed/8579597 Reactome R-HSA-1222556 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1222556 Reactome R-HSA-6798695 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6798695 Reactome R-HSA-77387 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-77387 Reactome R-HSA-917977 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-917977 Reactome R-HSA-983712 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-983712 RefSeq NP_006010 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_006010 RefSeq NP_006044 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_006044 RefSeq XP_005273766 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005273766 RefSeq XP_011543028 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011543028 STRING 9606.ENSP00000265686 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000265686&targetmode=cogs STRING COG1269 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=COG1269&targetmode=cogs UCSC uc001one http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001one&org=rat UniGene Hs.495985 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.495985 UniGene Hs.716672 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.716672 UniProtKB VPP3_HUMAN http://www.uniprot.org/uniprot/VPP3_HUMAN UniProtKB-AC Q13488 http://www.uniprot.org/uniprot/Q13488 charge swissprot:VPP3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:VPP3_HUMAN eggNOG COG1269 http://eggnogapi.embl.de/nog_data/html/tree/COG1269 eggNOG KOG2189 http://eggnogapi.embl.de/nog_data/html/tree/KOG2189 epestfind swissprot:VPP3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:VPP3_HUMAN garnier swissprot:VPP3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:VPP3_HUMAN helixturnhelix swissprot:VPP3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:VPP3_HUMAN hmoment swissprot:VPP3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:VPP3_HUMAN iep swissprot:VPP3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:VPP3_HUMAN inforesidue swissprot:VPP3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:VPP3_HUMAN neXtProt NX_Q13488 http://www.nextprot.org/db/entry/NX_Q13488 octanol swissprot:VPP3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:VPP3_HUMAN pepcoil swissprot:VPP3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:VPP3_HUMAN pepdigest swissprot:VPP3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:VPP3_HUMAN pepinfo swissprot:VPP3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:VPP3_HUMAN pepnet swissprot:VPP3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:VPP3_HUMAN pepstats swissprot:VPP3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:VPP3_HUMAN pepwheel swissprot:VPP3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:VPP3_HUMAN pepwindow swissprot:VPP3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:VPP3_HUMAN sigcleave swissprot:VPP3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:VPP3_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS KCNC2_HUMAN Event=Alternative splicing; Named isoforms=6; Name=1; Synonyms=Kv3.2b; IsoId=Q96PR1-1; Sequence=Displayed; Name=2; Synonyms=Kv3.2d; IsoId=Q96PR1-2; Sequence=VSP_029271; Name=3; Synonyms=Kv3.2a; IsoId=Q96PR1-3; Sequence=VSP_029272; Name=4; Synonyms=Kv3.2c; IsoId=Q96PR1-4; Sequence=VSP_029269, VSP_029270; Name=5; IsoId=Q96PR1-5; Sequence=VSP_044742; Note=No experimental confirmation available.; Name=6; IsoId=Q96PR1-6; Sequence=VSP_046002; Note=No experimental confirmation available.; # AltName Shaw-like potassium channel {ECO:0000250|UniProtKB P22462} # AltName Voltage-gated potassium channel Kv3.2 {ECO:0000250|UniProtKB P22462} # BIOPHYSICOCHEMICAL PROPERTIES KCNC2_HUMAN Kinetic parameters Note=Homotetrameric channels expressed in xenopus oocytes or in mammalian non-neuronal cells display delayed-rectifier voltage- dependent potassium currents, that are rapidly activated during membrane depolarization, i.e within a risetime of a few msec. After that, inactivates very slowly, i.e within about >800 msec. Their activation requires a threshold potential at about -10 mV, with a midpoint activation at about 12.1 mV and a steepness parameter of about 8.4 mV. The voltage-dependence of activation and inactivation and other channel characteristics vary depending on the experimental conditions, the expression system, the presence or absence of ancillary subunits and post- translational modifications. {ECO 0000250|UniProtKB P22462, ECO 0000269|PubMed 15709110, ECO 0000305|PubMed 10414303}; # CCDS CCDS58255 -. [Q96PR1-5] # CCDS CCDS58256 -. [Q96PR1-2] # CCDS CCDS58257 -. [Q96PR1-6] # CCDS CCDS9005 -. [Q96PR1-3] # CCDS CCDS9006 -. [Q96PR1-4] # CCDS CCDS9007 -. [Q96PR1-1] # DOMAIN KCNC2_HUMAN The transmembrane segment S4 functions as voltage-sensor and is characterized by a series of positively charged amino acids at every third position. Channel opening and closing is effected by a conformation change that affects the position and orientation of the voltage-sensor paddle formed by S3 and S4 within the membrane. A transmembrane electric field that is positive inside would push the positively charged S4 segment outwards, thereby opening the pore, while a field that is negative inside would pull the S4 segment inwards and close the pore. Changes in the position and orientation of S4 are then transmitted to the activation gate formed by the inner helix bundle via the S4-S5 linker region. {ECO 0000250|UniProtKB P63142}. # DrugBank DB06637 Dalfampridine # ENZYME REGULATION KCNC2_HUMAN Inhibited by Stichodactyla helianthus peptide ShK (PubMed 15709110). Inhibited by millimolar levels of tetraethylammonium (TEA). Contrary to other channels, inhibited only by millimolar levels of 4-aminopyridine (4-AP) (By similarity). {ECO 0000250|UniProtKB P22462, ECO 0000269|PubMed 15709110, ECO 0000305|PubMed 10414303}. # Ensembl ENST00000298972 ENSP00000298972; ENSG00000166006. [Q96PR1-3] # Ensembl ENST00000350228 ENSP00000319877; ENSG00000166006. [Q96PR1-4] # Ensembl ENST00000393288 ENSP00000376966; ENSG00000166006. [Q96PR1-6] # Ensembl ENST00000540018 ENSP00000438423; ENSG00000166006. [Q96PR1-5] # Ensembl ENST00000548513 ENSP00000449941; ENSG00000166006. [Q96PR1-3] # Ensembl ENST00000549446 ENSP00000449253; ENSG00000166006. [Q96PR1-1] # Ensembl ENST00000550433 ENSP00000448301; ENSG00000166006. [Q96PR1-2] # ExpressionAtlas Q96PR1 baseline and differential # FUNCTION KCNC2_HUMAN Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes, primarily in the brain. Contributes to the regulation of the fast action potential repolarization and in sustained high-frequency firing in neurons of the central nervous system. Homotetramer channels mediate delayed-rectifier voltage-dependent potassium currents that activate rapidly at high-threshold voltages and inactivate slowly. Forms tetrameric channels through which potassium ions pass in accordance with their electrochemical gradient. The channel alternates between opened and closed conformations in response to the voltage difference across the membrane (PubMed 15709110). Can form functional homotetrameric and heterotetrameric channels that contain variable proportions of KCNC1, and possibly other family members as well; channel properties depend on the type of alpha subunits that are part of the channel. Channel properties may be modulated either by the association with ancillary subunits, such as KCNE1, KCNE2 or KCNE3 or indirectly by nitric oxide (NO) through a cGMP- and PKG- mediated signaling cascade, slowing channel activation and deactivation of delayed rectifier potassium channels (By similarity). Contributes to fire sustained trains of very brief action potentials at high frequency in retinal ganglion cells, thalamocortical and suprachiasmatic nucleus (SCN) neurons and in hippocampal and neocortical interneurons (PubMed 15709110). Sustained maximal action potential firing frequency in inhibitory hippocampal interneurons is negatively modulated by histamine H2 receptor activation in a cAMP- and protein kinase (PKA) phosphorylation-dependent manner. Plays a role in maintaining the fidelity of synaptic transmission in neocortical GABAergic interneurons by generating action potential (AP) repolarization at nerve terminals, thus reducing spike-evoked calcium influx and GABA neurotransmitter release. Required for long-range synchronization of gamma oscillations over distance in the neocortex. Contributes to the modulation of the circadian rhythm of spontaneous action potential firing in suprachiasmatic nucleus (SCN) neurons in a light-dependent manner (By similarity). {ECO 0000250|UniProtKB P22462, ECO 0000250|UniProtKB Q14B80, ECO 0000269|PubMed 15709110, ECO 0000305|PubMed 10414303, ECO 0000305|PubMed 11506885}. # GO_component GO:0005622 intracellular; IEA:GOC. # GO_component GO:0005886 plasma membrane; ISS:UniProtKB. # GO_component GO:0005887 integral component of plasma membrane; ISS:UniProtKB. # GO_component GO:0008076 voltage-gated potassium channel complex; ISS:UniProtKB. # GO_component GO:0016020 membrane; ISS:UniProtKB. # GO_component GO:0016021 integral component of membrane; IBA:GO_Central. # GO_component GO:0016323 basolateral plasma membrane; ISS:UniProtKB. # GO_component GO:0016324 apical plasma membrane; ISS:UniProtKB. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0030424 axon; ISS:UniProtKB. # GO_component GO:0030425 dendrite; ISS:UniProtKB. # GO_component GO:0030673 axolemma; IEA:Ensembl. # GO_component GO:0031982 vesicle; IEA:Ensembl. # GO_component GO:0032809 neuronal cell body membrane; ISS:UniProtKB. # GO_component GO:0042734 presynaptic membrane; ISS:UniProtKB. # GO_component GO:0043195 terminal bouton; IEA:Ensembl. # GO_component GO:0043204 perikaryon; ISS:UniProtKB. # GO_component GO:0045202 synapse; ISS:UniProtKB. # GO_component GO:0045211 postsynaptic membrane; ISS:UniProtKB. # GO_function GO:0005249 voltage-gated potassium channel activity; ISS:UniProtKB. # GO_function GO:0005251 delayed rectifier potassium channel activity; ISS:UniProtKB. # GO_process GO:0009642 response to light intensity; IEA:Ensembl. # GO_process GO:0014070 response to organic cyclic compound; IEA:Ensembl. # GO_process GO:0014075 response to amine; IEA:Ensembl. # GO_process GO:0021759 globus pallidus development; IEA:Ensembl. # GO_process GO:0032026 response to magnesium ion; IEA:Ensembl. # GO_process GO:0038060 nitric oxide-cGMP-mediated signaling pathway; ISS:UniProtKB. # GO_process GO:0045471 response to ethanol; IEA:Ensembl. # GO_process GO:0050796 regulation of insulin secretion; TAS:Reactome. # GO_process GO:0051260 protein homooligomerization; ISS:UniProtKB. # GO_process GO:0051291 protein heterooligomerization; ISS:UniProtKB. # GO_process GO:0071242 cellular response to ammonium ion; IEA:Ensembl. # GO_process GO:0071732 cellular response to nitric oxide; ISS:UniProtKB. # GO_process GO:0071805 potassium ion transmembrane transport; ISS:UniProtKB. # GO_process GO:0097237 cellular response to toxic substance; IEA:Ensembl. # GO_process GO:1901381 positive regulation of potassium ion transmembrane transport; IEA:Ensembl. # GO_process GO:1990089 response to nerve growth factor; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005622 intracellular # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.20.120.350 -; 1. # Genevisible Q96PR1 HS # HGNC HGNC:6234 KCNC2 # InterPro IPR000210 BTB/POZ_dom # InterPro IPR003131 T1-type_BTB # InterPro IPR003968 K_chnl_volt-dep_Kv # InterPro IPR003974 K_chnl_volt-dep_Kv3 # InterPro IPR005821 Ion_trans_dom # InterPro IPR011333 SKP1/BTB/POZ # InterPro IPR027359 Channel_four-helix_dom # InterPro IPR028325 VG_K_chnl # KEGG_Brite ko04040 Ion channels # MIM 176256 gene # Organism KCNC2_HUMAN Homo sapiens (Human) # PANTHER PTHR11537 PTHR11537; 2 # PRINTS PR00169 KCHANNEL # PRINTS PR01491 KVCHANNEL # PRINTS PR01498 SHAWCHANNEL # PTM KCNC2_HUMAN Phosphorylated by PKA in cortical synaptosomes. cAMP- dependent phosphorylation inhibits channel activity (By similarity). Histamine H2 receptor- and PKA-induced phosphorylation extends action potential spike duration, reduces action potential spike amplitude, sustains maximum firing frequency in hippocampal interneurons; also reduces the incidence of high-frequency oscillations in hippocampal CA3 pyramidal cell layers. {ECO 0000250|UniProtKB P22462, ECO 0000250|UniProtKB Q14B80}. # Pfam PF00520 Ion_trans # Pfam PF02214 BTB_2 # Proteomes UP000005640 Chromosome 12 # Reactome R-HSA-1296072 Voltage gated Potassium channels # Reactome R-HSA-381676 Glucagon-like Peptide-1 (GLP1) regulates insulin secretion # RecName Potassium voltage-gated channel subfamily C member 2 {ECO:0000312|HGNC HGNC:6234} # RefSeq NP_001247426 NM_001260497.1. [Q96PR1-6] # RefSeq NP_001247427 NM_001260498.1. [Q96PR1-2] # RefSeq NP_001247428 NM_001260499.1. [Q96PR1-5] # RefSeq NP_631874 NM_139136.3. [Q96PR1-3] # RefSeq NP_631875 NM_139137.3. [Q96PR1-1] # RefSeq NP_715624 NM_153748.2. [Q96PR1-4] # RefSeq XP_006719445 XM_006719382.3. [Q96PR1-3] # SEQUENCE CAUTION Sequence=BAE06076.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the potassium channel family. C (Shaw) (TC 1.A.1.2) subfamily. Kv3.2/KCNC2 sub-subfamily. {ECO 0000305}. # SMART SM00225 BTB # SUBCELLULAR LOCATION KCNC2_HUMAN Cell membrane {ECO 0000269|PubMed 15709110}; Multi-pass membrane protein {ECO 0000255}. Membrane {ECO 0000250|UniProtKB Q14B80}; Multi-pass membrane protein {ECO 0000255}. Perikaryon {ECO 0000250|UniProtKB Q14B80}. Cell projection, axon {ECO 0000250|UniProtKB Q14B80}. Cell projection, dendrite {ECO 0000250|UniProtKB Q14B80}. Cell junction, synapse, postsynaptic cell membrane {ECO 0000250|UniProtKB Q14B80}. Cell junction, synapse, presynaptic cell membrane {ECO 0000250|UniProtKB Q14B80}. Cell junction, synapse, synaptosome {ECO 0000250|UniProtKB P22462}. Cell junction, synapse {ECO 0000250|UniProtKB P22462}. Apical cell membrane {ECO 0000250|UniProtKB P22462}. Basolateral cell membrane {ECO 0000250|UniProtKB P22462}. Note=Colocalizes with parvalbumin in globus pallidus neurons. Localizes in thalamocortical axons and synapses. Localizes on the surface of cell somata, proximal dendrites and axonal membranes. Also detected throughout the neuropil. Localized in starburst cell somata and proximal dendrite processes. Colocalized with GABA in presynaptic terminals. Clustered in patches in somatic and proximal dendritic membrane as well as in axons and presnypatic terminals of GABAergic interneurons; some of these patches are found near postsynaptic sites. {ECO 0000250|UniProtKB P22462, ECO 0000250|UniProtKB Q14B80}. # SUBUNIT KCNC2_HUMAN Homotetramer and heterotetramer with other channel- forming alpha subunits, such as KCNC1. Interacts with KCNC1. Homotetramer or heterotetramer channel activity is regulated by association with modulating ancillary subunits such as KCNE1, KCNE2 and KCNE3, creating a functionally diverse range of channel complexes. Interacts with KCNE1, KCNE2 and KCNE3. {ECO 0000250|UniProtKB P22462, ECO 0000250|UniProtKB Q14B80}. # SUPFAM SSF54695 SSF54695; 2 # TopDownProteomics Q96PR1-4 -. [Q96PR1-4] # UCSC uc001sxe human. [Q96PR1-1] # eggNOG COG1226 LUCA # eggNOG KOG3713 Eukaryota BLAST swissprot:KCNC2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCNC2_HUMAN COXPRESdb 3747 http://coxpresdb.jp/data/gene/3747.shtml CleanEx HS_KCNC2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNC2 DOI 10.1007/BF00357794 http://dx.doi.org/10.1007/BF00357794 DOI 10.1016/S0166-2236(00)01892-0 http://dx.doi.org/10.1016/S0166-2236(00)01892-0 DOI 10.1038/nature04569 http://dx.doi.org/10.1038/nature04569 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1749-6632.1999.tb11295.x http://dx.doi.org/10.1111/j.1749-6632.1999.tb11295.x DOI 10.1124/mol.105.011064 http://dx.doi.org/10.1124/mol.105.011064 DrugBank DB06637 http://www.drugbank.ca/drugs/DB06637 EMBL AB209994 http://www.ebi.ac.uk/ena/data/view/AB209994 EMBL AC073525 http://www.ebi.ac.uk/ena/data/view/AC073525 EMBL AC091534 http://www.ebi.ac.uk/ena/data/view/AC091534 EMBL AC130405 http://www.ebi.ac.uk/ena/data/view/AC130405 EMBL AF268896 http://www.ebi.ac.uk/ena/data/view/AF268896 EMBL AF268897 http://www.ebi.ac.uk/ena/data/view/AF268897 EMBL AK094720 http://www.ebi.ac.uk/ena/data/view/AK094720 EMBL AK294269 http://www.ebi.ac.uk/ena/data/view/AK294269 EMBL AK309245 http://www.ebi.ac.uk/ena/data/view/AK309245 EMBL AY118169 http://www.ebi.ac.uk/ena/data/view/AY118169 EMBL AY243473 http://www.ebi.ac.uk/ena/data/view/AY243473 EMBL BC093635 http://www.ebi.ac.uk/ena/data/view/BC093635 EMBL BC111991 http://www.ebi.ac.uk/ena/data/view/BC111991 EMBL CH471054 http://www.ebi.ac.uk/ena/data/view/CH471054 EMBL CH471054 http://www.ebi.ac.uk/ena/data/view/CH471054 EMBL CH471054 http://www.ebi.ac.uk/ena/data/view/CH471054 EMBL CH471054 http://www.ebi.ac.uk/ena/data/view/CH471054 Ensembl ENST00000298972 http://www.ensembl.org/id/ENST00000298972 Ensembl ENST00000350228 http://www.ensembl.org/id/ENST00000350228 Ensembl ENST00000393288 http://www.ensembl.org/id/ENST00000393288 Ensembl ENST00000540018 http://www.ensembl.org/id/ENST00000540018 Ensembl ENST00000548513 http://www.ensembl.org/id/ENST00000548513 Ensembl ENST00000549446 http://www.ensembl.org/id/ENST00000549446 Ensembl ENST00000550433 http://www.ensembl.org/id/ENST00000550433 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005622 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005622 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0008076 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008076 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0016323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016323 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0030424 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030424 GO_component GO:0030425 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030425 GO_component GO:0030673 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030673 GO_component GO:0031982 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031982 GO_component GO:0032809 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032809 GO_component GO:0042734 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042734 GO_component GO:0043195 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043195 GO_component GO:0043204 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043204 GO_component GO:0045202 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045202 GO_component GO:0045211 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045211 GO_function GO:0005249 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005249 GO_function GO:0005251 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005251 GO_process GO:0009642 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009642 GO_process GO:0014070 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014070 GO_process GO:0014075 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014075 GO_process GO:0021759 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021759 GO_process GO:0032026 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032026 GO_process GO:0038060 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0038060 GO_process GO:0045471 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045471 GO_process GO:0050796 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050796 GO_process GO:0051260 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051260 GO_process GO:0051291 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051291 GO_process GO:0071242 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071242 GO_process GO:0071732 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071732 GO_process GO:0071805 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071805 GO_process GO:0097237 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097237 GO_process GO:1901381 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1901381 GO_process GO:1990089 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1990089 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005622 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005622 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.20.120.350 http://www.cathdb.info/version/latest/superfamily/1.20.120.350 GeneCards KCNC2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNC2 GeneID 3747 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=3747 GeneTree ENSGT00760000118846 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118846 HGNC HGNC:6234 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6234 HOGENOM HOG000231012 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231012&db=HOGENOM6 HOVERGEN HBG105862 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG105862&db=HOVERGEN HPA CAB022571 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB022571 HPA HPA019664 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA019664 InParanoid Q96PR1 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q96PR1 InterPro IPR000210 http://www.ebi.ac.uk/interpro/entry/IPR000210 InterPro IPR003131 http://www.ebi.ac.uk/interpro/entry/IPR003131 InterPro IPR003968 http://www.ebi.ac.uk/interpro/entry/IPR003968 InterPro IPR003974 http://www.ebi.ac.uk/interpro/entry/IPR003974 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR011333 http://www.ebi.ac.uk/interpro/entry/IPR011333 InterPro IPR027359 http://www.ebi.ac.uk/interpro/entry/IPR027359 InterPro IPR028325 http://www.ebi.ac.uk/interpro/entry/IPR028325 Jabion 3747 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=3747 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:3747 http://www.genome.jp/dbget-bin/www_bget?hsa:3747 KEGG_Orthology KO:K04888 http://www.genome.jp/dbget-bin/www_bget?KO:K04888 MIM 176256 http://www.ncbi.nlm.nih.gov/omim/176256 OMA NCSSHGG http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=NCSSHGG OrthoDB EOG091G0EJL http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0EJL PANTHER PTHR11537 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11537 PRINTS PR00169 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00169 PRINTS PR01491 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01491 PRINTS PR01498 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01498 PSORT swissprot:KCNC2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCNC2_HUMAN PSORT-B swissprot:KCNC2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCNC2_HUMAN PSORT2 swissprot:KCNC2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCNC2_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF02214 http://pfam.xfam.org/family/PF02214 PharmGKB PA35490 http://www.pharmgkb.org/do/serve?objId=PA35490&objCls=Gene Phobius swissprot:KCNC2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCNC2_HUMAN PhylomeDB Q96PR1 http://phylomedb.org/?seqid=Q96PR1 ProteinModelPortal Q96PR1 http://www.proteinmodelportal.org/query/uniprot/Q96PR1 PubMed 10414303 http://www.ncbi.nlm.nih.gov/pubmed/10414303 PubMed 11506885 http://www.ncbi.nlm.nih.gov/pubmed/11506885 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15709110 http://www.ncbi.nlm.nih.gov/pubmed/15709110 PubMed 16541075 http://www.ncbi.nlm.nih.gov/pubmed/16541075 PubMed 8111118 http://www.ncbi.nlm.nih.gov/pubmed/8111118 Reactome R-HSA-1296072 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1296072 Reactome R-HSA-381676 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-381676 RefSeq NP_001247426 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001247426 RefSeq NP_001247427 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001247427 RefSeq NP_001247428 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001247428 RefSeq NP_631874 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_631874 RefSeq NP_631875 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_631875 RefSeq NP_715624 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_715624 RefSeq XP_006719445 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006719445 SMART SM00225 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00225 STRING 9606.ENSP00000449253 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000449253&targetmode=cogs SUPFAM SSF54695 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF54695 UCSC uc001sxe http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001sxe&org=rat UniGene Hs.27214 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.27214 UniGene Hs.741918 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.741918 UniProtKB KCNC2_HUMAN http://www.uniprot.org/uniprot/KCNC2_HUMAN UniProtKB-AC Q96PR1 http://www.uniprot.org/uniprot/Q96PR1 charge swissprot:KCNC2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCNC2_HUMAN eggNOG COG1226 http://eggnogapi.embl.de/nog_data/html/tree/COG1226 eggNOG KOG3713 http://eggnogapi.embl.de/nog_data/html/tree/KOG3713 epestfind swissprot:KCNC2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCNC2_HUMAN garnier swissprot:KCNC2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCNC2_HUMAN helixturnhelix swissprot:KCNC2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCNC2_HUMAN hmoment swissprot:KCNC2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCNC2_HUMAN iep swissprot:KCNC2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCNC2_HUMAN inforesidue swissprot:KCNC2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCNC2_HUMAN neXtProt NX_Q96PR1 http://www.nextprot.org/db/entry/NX_Q96PR1 octanol swissprot:KCNC2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCNC2_HUMAN pepcoil swissprot:KCNC2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCNC2_HUMAN pepdigest swissprot:KCNC2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCNC2_HUMAN pepinfo swissprot:KCNC2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCNC2_HUMAN pepnet swissprot:KCNC2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCNC2_HUMAN pepstats swissprot:KCNC2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCNC2_HUMAN pepwheel swissprot:KCNC2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCNC2_HUMAN pepwindow swissprot:KCNC2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCNC2_HUMAN sigcleave swissprot:KCNC2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCNC2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS VATE1_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=P36543-1; Sequence=Displayed; Name=2; IsoId=P36543-2; Sequence=VSP_042925; Note=No experimental confirmation available.; Name=3; IsoId=P36543-3; Sequence=VSP_044589; # AltName VATE1_HUMAN V-ATPase 31 kDa subunit # AltName VATE1_HUMAN Vacuolar proton pump subunit E 1 # BioGrid 107012 60 # CCDS CCDS13745 -. [P36543-1] # CCDS CCDS42977 -. [P36543-2] # CCDS CCDS42978 -. [P36543-3] # ChiTaRS ATP6V1E1 human # Ensembl ENST00000253413 ENSP00000253413; ENSG00000131100. [P36543-1] # Ensembl ENST00000399796 ENSP00000382694; ENSG00000131100. [P36543-3] # Ensembl ENST00000399798 ENSP00000382696; ENSG00000131100. [P36543-2] # ExpressionAtlas P36543 baseline and differential # FUNCTION VATE1_HUMAN Subunit of the peripheral V1 complex of vacuolar ATPase essential for assembly or catalytic function. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. # GO_component GO:0005739 mitochondrion; IEA:Ensembl. # GO_component GO:0005765 lysosomal membrane; IDA:UniProtKB. # GO_component GO:0005768 endosome; ISS:UniProtKB. # GO_component GO:0005829 cytosol; ISS:UniProtKB. # GO_component GO:0005902 microvillus; IEA:Ensembl. # GO_component GO:0016324 apical plasma membrane; ISS:UniProtKB. # GO_component GO:0016469 proton-transporting two-sector ATPase complex; TAS:ProtInc. # GO_component GO:0033178 proton-transporting two-sector ATPase complex, catalytic domain; IEA:InterPro. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0008553 hydrogen-exporting ATPase activity, phosphorylative mechanism; IEA:Ensembl. # GO_function GO:0046961 proton-transporting ATPase activity, rotational mechanism; IEA:InterPro. # GO_function GO:0051117 ATPase binding; IPI:UniProtKB. # GO_process GO:0008286 insulin receptor signaling pathway; TAS:Reactome. # GO_process GO:0015991 ATP hydrolysis coupled proton transport; IEA:Ensembl. # GO_process GO:0015992 proton transport; TAS:ProtInc. # GO_process GO:0016241 regulation of macroautophagy; NAS:ParkinsonsUK-UCL. # GO_process GO:0033572 transferrin transport; TAS:Reactome. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0090383 phagosome acidification; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005739 mitochondrion # GOslim_component GO:0005768 endosome # GOslim_component GO:0005829 cytosol # GOslim_component GO:0043226 organelle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0019899 enzyme binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Genevisible P36543 HS # HAMAP MF_00311 ATP_synth_E_arch # HGNC HGNC:857 ATP6V1E1 # IntAct P36543 12 # InterPro IPR002842 ATPase_V1/A1-cplx_esu # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Brite ko01000 Enzymes # KEGG_Pathway ko00190 Oxidative phosphorylation # KEGG_Pathway ko04145 Phagosome # KEGG_Pathway ko04721 Synaptic vesicle cycle # KEGG_Pathway ko04966 Collecting duct acid secretion # KEGG_Pathway ko05110 Vibrio cholerae infection # KEGG_Pathway ko05120 Epithelial cell signaling in Helicobacter pylori infection # KEGG_Pathway ko05323 Rheumatoid arthritis # MIM 108746 gene # Organism VATE1_HUMAN Homo sapiens (Human) # PIR S60562 S60562 # Pfam PF01991 vATP-synt_E # Proteomes UP000005640 Chromosome 22 # Reactome R-HSA-1222556 ROS, RNS production in response to bacteria # Reactome R-HSA-77387 Insulin receptor recycling # Reactome R-HSA-917977 Transferrin endocytosis and recycling # Reactome R-HSA-983712 Ion channel transport # RecName VATE1_HUMAN V-type proton ATPase subunit E 1 # RefSeq NP_001034455 NM_001039366.1. [P36543-2] # RefSeq NP_001034456 NM_001039367.1. [P36543-3] # RefSeq NP_001687 NM_001696.3. [P36543-1] # SIMILARITY Belongs to the V-ATPase E subunit family. {ECO 0000305}. # SUBUNIT VATE1_HUMAN V-ATPase is a heteromultimeric enzyme composed of a peripheral catalytic V1 complex (components A to H) attached to an integral membrane V0 proton pore complex (components a, c, c', c'' and d). Interacts with RABL2/RABL2A; binds preferentially to GTP-bound RABL2 (By similarity). Interacts with ALDOC. Interacts with RAB11B. {ECO 0000250, ECO 0000269|PubMed 11399750, ECO 0000269|PubMed 20717956}. # TCDB 3.A.2.2 the h(+)- or na(+)-translocating f-type, v-type and a-type atpase (f-atpase) superfamily # TISSUE SPECIFICITY Ubiquitous. {ECO:0000269|PubMed 12036578}. # UCSC uc002zms human. [P36543-1] # eggNOG COG1390 LUCA # eggNOG KOG1664 Eukaryota BLAST swissprot:VATE1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:VATE1_HUMAN BioCyc MetaCyc:HS05489-MONOMER http://biocyc.org/getid?id=MetaCyc:HS05489-MONOMER BioCyc ZFISH:HS05489-MONOMER http://biocyc.org/getid?id=ZFISH:HS05489-MONOMER COG COG1390 http://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=COG1390 COXPRESdb 529 http://coxpresdb.jp/data/gene/529.shtml CleanEx HS_ATP6V1E1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ATP6V1E1 DOI 10.1002/jcp.22388 http://dx.doi.org/10.1002/jcp.22388 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1006/bbrc.1993.2434 http://dx.doi.org/10.1006/bbrc.1993.2434 DOI 10.1016/S0378-1119(02)00542-5 http://dx.doi.org/10.1016/S0378-1119(02)00542-5 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/ac9004309 http://dx.doi.org/10.1021/ac9004309 DOI 10.1038/990031 http://dx.doi.org/10.1038/990031 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.M008768200 http://dx.doi.org/10.1074/jbc.M008768200 DOI 10.1093/hmg/3.2.335 http://dx.doi.org/10.1093/hmg/3.2.335 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1133427 http://dx.doi.org/10.1126/science.1133427 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DOI 10.1186/gb-2004-5-10-r84 http://dx.doi.org/10.1186/gb-2004-5-10-r84 EMBL AC004019 http://www.ebi.ac.uk/ena/data/view/AC004019 EMBL AC006285 http://www.ebi.ac.uk/ena/data/view/AC006285 EMBL AC007666 http://www.ebi.ac.uk/ena/data/view/AC007666 EMBL AK294623 http://www.ebi.ac.uk/ena/data/view/AK294623 EMBL AK315941 http://www.ebi.ac.uk/ena/data/view/AK315941 EMBL BC004443 http://www.ebi.ac.uk/ena/data/view/BC004443 EMBL CR456385 http://www.ebi.ac.uk/ena/data/view/CR456385 EMBL X71491 http://www.ebi.ac.uk/ena/data/view/X71491 EMBL X76228 http://www.ebi.ac.uk/ena/data/view/X76228 Ensembl ENST00000253413 http://www.ensembl.org/id/ENST00000253413 Ensembl ENST00000399796 http://www.ensembl.org/id/ENST00000399796 Ensembl ENST00000399798 http://www.ensembl.org/id/ENST00000399798 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005765 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005765 GO_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0005902 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005902 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:0016469 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016469 GO_component GO:0033178 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033178 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0008553 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008553 GO_function GO:0046961 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046961 GO_function GO:0051117 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051117 GO_process GO:0008286 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008286 GO_process GO:0015991 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015991 GO_process GO:0015992 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015992 GO_process GO:0016241 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016241 GO_process GO:0033572 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033572 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0090383 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090383 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards ATP6V1E1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ATP6V1E1 GeneID 529 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=529 GeneTree ENSGT00390000002730 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000002730 HAMAP MF_00311 http://hamap.expasy.org/unirule/MF_00311 HGNC HGNC:857 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:857 HOGENOM HOG000202506 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000202506&db=HOGENOM6 HOVERGEN HBG002309 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG002309&db=HOVERGEN HPA CAB009528 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB009528 HPA CAB018699 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB018699 HPA HPA029196 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA029196 InParanoid P36543 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P36543 IntAct P36543 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P36543* InterPro IPR002842 http://www.ebi.ac.uk/interpro/entry/IPR002842 Jabion 529 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=529 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00002 http://www.genome.jp/dbget-bin/www_bget?ko00002 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Gene hsa:529 http://www.genome.jp/dbget-bin/www_bget?hsa:529 KEGG_Orthology KO:K02150 http://www.genome.jp/dbget-bin/www_bget?KO:K02150 KEGG_Pathway ko00190 http://www.genome.jp/kegg-bin/show_pathway?ko00190 KEGG_Pathway ko04145 http://www.genome.jp/kegg-bin/show_pathway?ko04145 KEGG_Pathway ko04721 http://www.genome.jp/kegg-bin/show_pathway?ko04721 KEGG_Pathway ko04966 http://www.genome.jp/kegg-bin/show_pathway?ko04966 KEGG_Pathway ko05110 http://www.genome.jp/kegg-bin/show_pathway?ko05110 KEGG_Pathway ko05120 http://www.genome.jp/kegg-bin/show_pathway?ko05120 KEGG_Pathway ko05323 http://www.genome.jp/kegg-bin/show_pathway?ko05323 MIM 108746 http://www.ncbi.nlm.nih.gov/omim/108746 MINT MINT-5002575 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-5002575 OMA EYQTVLT http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=EYQTVLT OrthoDB EOG091G0OGO http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0OGO PSORT swissprot:VATE1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:VATE1_HUMAN PSORT-B swissprot:VATE1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:VATE1_HUMAN PSORT2 swissprot:VATE1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:VATE1_HUMAN Pfam PF01991 http://pfam.xfam.org/family/PF01991 PharmGKB PA25158 http://www.pharmgkb.org/do/serve?objId=PA25158&objCls=Gene Phobius swissprot:VATE1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:VATE1_HUMAN PhylomeDB P36543 http://phylomedb.org/?seqid=P36543 ProteinModelPortal P36543 http://www.proteinmodelportal.org/query/uniprot/P36543 PubMed 10591208 http://www.ncbi.nlm.nih.gov/pubmed/10591208 PubMed 11399750 http://www.ncbi.nlm.nih.gov/pubmed/11399750 PubMed 12036578 http://www.ncbi.nlm.nih.gov/pubmed/12036578 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 1533641 http://www.ncbi.nlm.nih.gov/pubmed/1533641 PubMed 15461802 http://www.ncbi.nlm.nih.gov/pubmed/15461802 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16959974 http://www.ncbi.nlm.nih.gov/pubmed/16959974 PubMed 19413330 http://www.ncbi.nlm.nih.gov/pubmed/19413330 PubMed 20717956 http://www.ncbi.nlm.nih.gov/pubmed/20717956 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 8004105 http://www.ncbi.nlm.nih.gov/pubmed/8004105 PubMed 8250920 http://www.ncbi.nlm.nih.gov/pubmed/8250920 Reactome R-HSA-1222556 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1222556 Reactome R-HSA-77387 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-77387 Reactome R-HSA-917977 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-917977 Reactome R-HSA-983712 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-983712 RefSeq NP_001034455 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001034455 RefSeq NP_001034456 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001034456 RefSeq NP_001687 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001687 SMR P36543 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P36543 STRING 9606.ENSP00000253413 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000253413&targetmode=cogs STRING COG1390 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=COG1390&targetmode=cogs TCDB 3.A.2.2 http://www.tcdb.org/search/result.php?tc=3.A.2.2 UCSC uc002zms http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002zms&org=rat UniGene Hs.517338 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.517338 UniProtKB VATE1_HUMAN http://www.uniprot.org/uniprot/VATE1_HUMAN UniProtKB-AC P36543 http://www.uniprot.org/uniprot/P36543 charge swissprot:VATE1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:VATE1_HUMAN eggNOG COG1390 http://eggnogapi.embl.de/nog_data/html/tree/COG1390 eggNOG KOG1664 http://eggnogapi.embl.de/nog_data/html/tree/KOG1664 epestfind swissprot:VATE1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:VATE1_HUMAN garnier swissprot:VATE1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:VATE1_HUMAN helixturnhelix swissprot:VATE1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:VATE1_HUMAN hmoment swissprot:VATE1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:VATE1_HUMAN iep swissprot:VATE1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:VATE1_HUMAN inforesidue swissprot:VATE1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:VATE1_HUMAN neXtProt NX_P36543 http://www.nextprot.org/db/entry/NX_P36543 octanol swissprot:VATE1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:VATE1_HUMAN pepcoil swissprot:VATE1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:VATE1_HUMAN pepdigest swissprot:VATE1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:VATE1_HUMAN pepinfo swissprot:VATE1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:VATE1_HUMAN pepnet swissprot:VATE1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:VATE1_HUMAN pepstats swissprot:VATE1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:VATE1_HUMAN pepwheel swissprot:VATE1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:VATE1_HUMAN pepwindow swissprot:VATE1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:VATE1_HUMAN sigcleave swissprot:VATE1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:VATE1_HUMAN ## Database ID URL or Descriptions # AltName CX6B1_HUMAN Cytochrome c oxidase subunit VIb isoform 1 # BioGrid 107733 48 # CDD cd00926 Cyt_c_Oxidase_VIb # ChiTaRS COX6B1 human # DISEASE CX6B1_HUMAN Mitochondrial complex IV deficiency (MT-C4D) [MIM 220110] A disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to severe multisystem disease affecting several tissues and organs. Features include hypertrophic cardiomyopathy, hepatomegaly and liver dysfunction, hypotonia, muscle weakness, exercise intolerance, developmental delay, delayed motor development and mental retardation. Some affected individuals manifest a fatal hypertrophic cardiomyopathy resulting in neonatal death. A subset of patients manifest Leigh syndrome. {ECO 0000269|PubMed 18499082}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DrugBank DB02659 Cholic Acid # Ensembl ENST00000246554 ENSP00000246554; ENSG00000126267 # Ensembl ENST00000392201 ENSP00000376037; ENSG00000126267 # Ensembl ENST00000592141 ENSP00000466818; ENSG00000126267 # ExpressionAtlas P14854 baseline and differential # FUNCTION CX6B1_HUMAN Connects the two COX monomers into the physiological dimeric form. {ECO 0000250}. # GO_component GO:0005739 mitochondrion; IDA:HPA. # GO_component GO:0005743 mitochondrial inner membrane; TAS:Reactome. # GO_component GO:0005758 mitochondrial intermembrane space; IEA:UniProtKB-SubCell. # GO_function GO:0004129 cytochrome-c oxidase activity; NAS:UniProtKB. # GO_process GO:0006123 mitochondrial electron transport, cytochrome c to oxygen; TAS:Reactome. # GO_process GO:0021762 substantia nigra development; IEP:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005739 mitochondrion # GOslim_function GO:0016491 oxidoreductase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006091 generation of precursor metabolites and energy # GOslim_process GO:0048856 anatomical structure development # Gene3D 1.10.10.140 -; 1. # Genevisible P14854 HS # HGNC HGNC:2280 COX6B1 # IntAct P14854 19 # InterPro IPR003213 Cyt_c_oxidase_su6B # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Disease H01368:[Inherited metabolic disease; Mitochondrial disease] Leber Hereditary Optic Neuropathy (LHON) [DS H00068] # KEGG_Pathway ko00190 Oxidative phosphorylation # KEGG_Pathway ko04260 Cardiac muscle contraction # KEGG_Pathway ko05010 Alzheimer's disease # KEGG_Pathway ko05012 Parkinson's disease # KEGG_Pathway ko05016 Huntington's disease # MIM 124089 gene # MIM 220110 phenotype # Organism CX6B1_HUMAN Homo sapiens (Human) # Orphanet 254905 Isolated cytochrome C oxidase deficiency # Orphanet 70474 Leigh syndrome with cardiomyopathy # PIR S03287 OGHU6B # PIRSF PIRSF000278 Cyt_c_oxidase_6B # PROSITE PS51808 CHCH # Pfam PF02297 COX6B # Proteomes UP000005640 Chromosome 19 # Reactome R-HSA-5628897 TP53 Regulates Metabolic Genes # Reactome R-HSA-611105 Respiratory electron transport # RecName CX6B1_HUMAN Cytochrome c oxidase subunit 6B1 # RefSeq NP_001854 NM_001863.4 # SIMILARITY Belongs to the cytochrome c oxidase subunit 6B family. {ECO 0000305}. # SIMILARITY Contains 1 CHCH (coiled coil-helix-coiled coil-helix) domain. {ECO:0000255|PROSITE-ProRule PRU01150}. # SUBCELLULAR LOCATION CX6B1_HUMAN Mitochondrion intermembrane space {ECO 0000250}. # SUPFAM SSF47694 SSF47694 # UCSC uc002oav human # eggNOG ENOG41121WM LUCA # eggNOG KOG3057 Eukaryota BLAST swissprot:CX6B1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CX6B1_HUMAN BioCyc ZFISH:HS05010-MONOMER http://biocyc.org/getid?id=ZFISH:HS05010-MONOMER COXPRESdb 1340 http://coxpresdb.jp/data/gene/1340.shtml CleanEx HS_COX6B1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_COX6B1 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1016/0167-4781(91)90027-J http://dx.doi.org/10.1016/0167-4781(91)90027-J DOI 10.1016/0378-1119(90)90237-L http://dx.doi.org/10.1016/0378-1119(90)90237-L DOI 10.1016/0378-1119(91)90082-M http://dx.doi.org/10.1016/0378-1119(91)90082-M DOI 10.1016/j.ajhg.2008.05.002 http://dx.doi.org/10.1016/j.ajhg.2008.05.002 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1038/nature02399 http://dx.doi.org/10.1038/nature02399 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.1210303109 http://dx.doi.org/10.1073/pnas.1210303109 DOI 10.1093/nar/17.4.1766 http://dx.doi.org/10.1093/nar/17.4.1766 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DrugBank DB02659 http://www.drugbank.ca/drugs/DB02659 EMBL AC002115 http://www.ebi.ac.uk/ena/data/view/AC002115 EMBL AK312140 http://www.ebi.ac.uk/ena/data/view/AK312140 EMBL BC001015 http://www.ebi.ac.uk/ena/data/view/BC001015 EMBL BC002478 http://www.ebi.ac.uk/ena/data/view/BC002478 EMBL BT006945 http://www.ebi.ac.uk/ena/data/view/BT006945 EMBL CR456789 http://www.ebi.ac.uk/ena/data/view/CR456789 EMBL CR542137 http://www.ebi.ac.uk/ena/data/view/CR542137 EMBL X13923 http://www.ebi.ac.uk/ena/data/view/X13923 EMBL X54473 http://www.ebi.ac.uk/ena/data/view/X54473 EMBL X58139 http://www.ebi.ac.uk/ena/data/view/X58139 Ensembl ENST00000246554 http://www.ensembl.org/id/ENST00000246554 Ensembl ENST00000392201 http://www.ensembl.org/id/ENST00000392201 Ensembl ENST00000592141 http://www.ensembl.org/id/ENST00000592141 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0005758 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005758 GO_function GO:0004129 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004129 GO_process GO:0006123 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006123 GO_process GO:0021762 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021762 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_function GO:0016491 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016491 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006091 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 Gene3D 1.10.10.140 http://www.cathdb.info/version/latest/superfamily/1.10.10.140 GeneCards COX6B1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=COX6B1 GeneID 1340 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=1340 GeneTree ENSGT00390000001191 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000001191 HGNC HGNC:2280 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:2280 HOGENOM HOG000165128 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000165128&db=HOGENOM6 HOVERGEN HBG051090 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG051090&db=HOVERGEN HPA HPA004192 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA004192 InParanoid P14854 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P14854 IntAct P14854 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P14854* InterPro IPR003213 http://www.ebi.ac.uk/interpro/entry/IPR003213 Jabion 1340 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=1340 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00002 http://www.genome.jp/dbget-bin/www_bget?ko00002 KEGG_Disease H01368 http://www.genome.jp/dbget-bin/www_bget?H01368 KEGG_Gene hsa:1340 http://www.genome.jp/dbget-bin/www_bget?hsa:1340 KEGG_Orthology KO:K02267 http://www.genome.jp/dbget-bin/www_bget?KO:K02267 KEGG_Pathway ko00190 http://www.genome.jp/kegg-bin/show_pathway?ko00190 KEGG_Pathway ko04260 http://www.genome.jp/kegg-bin/show_pathway?ko04260 KEGG_Pathway ko05010 http://www.genome.jp/kegg-bin/show_pathway?ko05010 KEGG_Pathway ko05012 http://www.genome.jp/kegg-bin/show_pathway?ko05012 KEGG_Pathway ko05016 http://www.genome.jp/kegg-bin/show_pathway?ko05016 MIM 124089 http://www.ncbi.nlm.nih.gov/omim/124089 MIM 220110 http://www.ncbi.nlm.nih.gov/omim/220110 MINT MINT-3008230 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-3008230 OMA LDFHRCQ http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=LDFHRCQ Orphanet 254905 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=254905 Orphanet 70474 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=70474 OrthoDB EOG091G0UIB http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0UIB PROSITE PS51808 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51808 PSORT swissprot:CX6B1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CX6B1_HUMAN PSORT-B swissprot:CX6B1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CX6B1_HUMAN PSORT2 swissprot:CX6B1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CX6B1_HUMAN Pfam PF02297 http://pfam.xfam.org/family/PF02297 PharmGKB PA26797 http://www.pharmgkb.org/do/serve?objId=PA26797&objCls=Gene Phobius swissprot:CX6B1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CX6B1_HUMAN PhylomeDB P14854 http://phylomedb.org/?seqid=P14854 ProteinModelPortal P14854 http://www.proteinmodelportal.org/query/uniprot/P14854 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15057824 http://www.ncbi.nlm.nih.gov/pubmed/15057824 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 1647217 http://www.ncbi.nlm.nih.gov/pubmed/1647217 PubMed 1651883 http://www.ncbi.nlm.nih.gov/pubmed/1651883 PubMed 18499082 http://www.ncbi.nlm.nih.gov/pubmed/18499082 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 2172092 http://www.ncbi.nlm.nih.gov/pubmed/2172092 PubMed 22814378 http://www.ncbi.nlm.nih.gov/pubmed/22814378 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 2537962 http://www.ncbi.nlm.nih.gov/pubmed/2537962 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 Reactome R-HSA-5628897 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5628897 Reactome R-HSA-611105 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-611105 RefSeq NP_001854 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001854 SMR P14854 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P14854 STRING 9606.ENSP00000246554 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000246554&targetmode=cogs SUPFAM SSF47694 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF47694 UCSC uc002oav http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002oav&org=rat UniGene Hs.431668 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.431668 UniProtKB CX6B1_HUMAN http://www.uniprot.org/uniprot/CX6B1_HUMAN UniProtKB-AC P14854 http://www.uniprot.org/uniprot/P14854 charge swissprot:CX6B1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CX6B1_HUMAN eggNOG ENOG41121WM http://eggnogapi.embl.de/nog_data/html/tree/ENOG41121WM eggNOG KOG3057 http://eggnogapi.embl.de/nog_data/html/tree/KOG3057 epestfind swissprot:CX6B1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CX6B1_HUMAN garnier swissprot:CX6B1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CX6B1_HUMAN helixturnhelix swissprot:CX6B1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CX6B1_HUMAN hmoment swissprot:CX6B1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CX6B1_HUMAN iep swissprot:CX6B1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CX6B1_HUMAN inforesidue swissprot:CX6B1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CX6B1_HUMAN neXtProt NX_P14854 http://www.nextprot.org/db/entry/NX_P14854 octanol swissprot:CX6B1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CX6B1_HUMAN pepcoil swissprot:CX6B1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CX6B1_HUMAN pepdigest swissprot:CX6B1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CX6B1_HUMAN pepinfo swissprot:CX6B1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CX6B1_HUMAN pepnet swissprot:CX6B1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CX6B1_HUMAN pepstats swissprot:CX6B1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CX6B1_HUMAN pepwheel swissprot:CX6B1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CX6B1_HUMAN pepwindow swissprot:CX6B1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CX6B1_HUMAN sigcleave swissprot:CX6B1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CX6B1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS AP1S2_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P56377-1; Sequence=Displayed; Name=2; IsoId=P56377-2; Sequence=VSP_053671, VSP_053672; Note=No experimental confirmation available.; # AltName AP1S2_HUMAN Adaptor protein complex AP-1 subunit sigma-1B # AltName AP1S2_HUMAN Adaptor-related protein complex 1 subunit sigma-1B # AltName AP1S2_HUMAN Clathrin assembly protein complex 1 sigma-1B small chain # AltName AP1S2_HUMAN Golgi adaptor HA1/AP1 adaptin sigma-1B subunit # AltName AP1S2_HUMAN Sigma 1B subunit of AP-1 clathrin # AltName AP1S2_HUMAN Sigma-adaptin 1B # AltName AP1S2_HUMAN Sigma1B-adaptin # BioGrid 114419 36 # CCDS CCDS14173 -. [P56377-1] # ChiTaRS AP1S2 human # DISEASE AP1S2_HUMAN Pettigrew syndrome (PGS) [MIM 304340] A syndrome characterized by mental retardation and additional highly variable features, including choreoathetosis, hydrocephalus, Dandy-Walker malformation, seizures, and iron or calcium deposition in the brain. Mental retardation is characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO 0000269|PubMed 17186471}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000329235 ENSP00000328789; ENSG00000182287. [P56377-1] # ExpressionAtlas P56377 baseline and differential # FUNCTION AP1S2_HUMAN Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. # GO_component GO:0000139 Golgi membrane; TAS:Reactome. # GO_component GO:0005765 lysosomal membrane; TAS:Reactome. # GO_component GO:0005794 Golgi apparatus; IDA:HPA. # GO_component GO:0005829 cytosol; TAS:Reactome. # GO_component GO:0005905 clathrin-coated pit; IEA:UniProtKB-SubCell. # GO_component GO:0030119 AP-type membrane coat adaptor complex; TAS:ProtInc. # GO_component GO:0030659 cytoplasmic vesicle membrane; TAS:Reactome. # GO_component GO:0030669 clathrin-coated endocytic vesicle membrane; TAS:Reactome. # GO_component GO:0032588 trans-Golgi network membrane; TAS:Reactome. # GO_component GO:0043231 intracellular membrane-bounded organelle; IDA:HPA. # GO_function GO:0008565 protein transporter activity; IEA:InterPro. # GO_process GO:0006886 intracellular protein transport; IEA:InterPro. # GO_process GO:0016192 vesicle-mediated transport; IEA:InterPro. # GO_process GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II; TAS:Reactome. # GO_process GO:0050690 regulation of defense response to virus by virus; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005794 Golgi apparatus # GOslim_component GO:0005829 cytosol # GOslim_component GO:0043226 organelle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0008565 protein transporter activity # GOslim_process GO:0002376 immune system process # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0016192 vesicle-mediated transport # Genevisible P56377 HS # HGNC HGNC:560 AP1S2 # INTERACTION AP1S2_HUMAN O43747-2 AP1G1; NbExp=5; IntAct=EBI-1054374, EBI-10185819; # IntAct P56377 24 # InterPro IPR000804 Clathrin_sm-chain_CS # InterPro IPR011012 Longin-like_dom # InterPro IPR016635 AP_complex_ssu # InterPro IPR022775 AP_mu_sigma_su # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Pathway ko04142 Lysosome # MIM 300629 gene # MIM 304340 phenotype # Organism AP1S2_HUMAN Homo sapiens (Human) # Orphanet 1568 X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures # Orphanet 85335 Fried syndrome # PANTHER PTHR11753 PTHR11753 # PIRSF PIRSF015588 AP_complex_sigma # PROSITE PS00989 CLAT_ADAPTOR_S # Pfam PF01217 Clat_adaptor_s # Proteomes UP000005640 Chromosome X # Reactome R-HSA-164940 Nef mediated downregulation of MHC class I complex cell surface expression # Reactome R-HSA-2132295 MHC class II antigen presentation # Reactome R-HSA-432720 Lysosome Vesicle Biogenesis # Reactome R-HSA-432722 Golgi Associated Vesicle Biogenesis # RecName AP1S2_HUMAN AP-1 complex subunit sigma-2 # RefSeq NP_003907 NM_003916.4. [P56377-1] # RefSeq XP_011543901 XM_011545599.1. [P56377-2] # RefSeq XP_016885414 XM_017029925.1. [P56377-2] # SEQUENCE CAUTION Sequence=AAG44595.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the adaptor complexes small subunit family. {ECO 0000305}. # SUBCELLULAR LOCATION AP1S2_HUMAN Golgi apparatus. Cytoplasmic vesicle membrane; Peripheral membrane protein; Cytoplasmic side. Membrane, clathrin-coated pit. Note=Component of the coat surrounding the cytoplasmic face of coated vesicles located at the Golgi complex. # SUBUNIT AP1S2_HUMAN Adaptor protein complex 1 (AP-1) is a heterotetramer composed of two large adaptins (gamma-type subunit AP1G1 and beta- type subunit AP1B1), a medium adaptin (mu-type subunit AP1M1 or AP1M2) and a small adaptin (sigma-type subunit AP1S1 or AP1S2 or AP1S3). Binds to MUC1. # SUPFAM SSF64356 SSF64356 # TISSUE SPECIFICITY AP1S2_HUMAN Widely expressed. # eggNOG COG5030 LUCA # eggNOG KOG0934 Eukaryota BLAST swissprot:AP1S2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:AP1S2_HUMAN BioCyc ZFISH:ENSG00000128989-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000128989-MONOMER COXPRESdb 8905 http://coxpresdb.jp/data/gene/8905.shtml CleanEx HS_AP1S2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_AP1S2 DOI 10.1038/nature03440 http://dx.doi.org/10.1038/nature03440 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.273.38.24693 http://dx.doi.org/10.1074/jbc.273.38.24693 DOI 10.1074/jbc.M409360200 http://dx.doi.org/10.1074/jbc.M409360200 DOI 10.1086/510137 http://dx.doi.org/10.1086/510137 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AB015320 http://www.ebi.ac.uk/ena/data/view/AB015320 EMBL AC004106 http://www.ebi.ac.uk/ena/data/view/AC004106 EMBL AF091077 http://www.ebi.ac.uk/ena/data/view/AF091077 EMBL AF251295 http://www.ebi.ac.uk/ena/data/view/AF251295 EMBL AK299921 http://www.ebi.ac.uk/ena/data/view/AK299921 EMBL BC001117 http://www.ebi.ac.uk/ena/data/view/BC001117 EMBL BC071867 http://www.ebi.ac.uk/ena/data/view/BC071867 EMBL BT006738 http://www.ebi.ac.uk/ena/data/view/BT006738 Ensembl ENST00000329235 http://www.ensembl.org/id/ENST00000329235 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000139 GO_component GO:0005765 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005765 GO_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0005905 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005905 GO_component GO:0030119 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030119 GO_component GO:0030659 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030659 GO_component GO:0030669 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030669 GO_component GO:0032588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032588 GO_component GO:0043231 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043231 GO_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GO_process GO:0006886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006886 GO_process GO:0016192 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016192 GO_process GO:0019886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019886 GO_process GO:0050690 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050690 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_process GO:0002376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002376 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0016192 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016192 GeneCards AP1S2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=AP1S2 GeneID 8905 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=8905 GeneTree ENSGT00530000062839 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000062839 HGNC HGNC:560 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:560 HOGENOM HOG000185227 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000185227&db=HOGENOM6 HOVERGEN HBG050517 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050517&db=HOVERGEN HPA HPA049894 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA049894 HPA HPA060945 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA060945 InParanoid P56377 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P56377 IntAct P56377 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P56377* InterPro IPR000804 http://www.ebi.ac.uk/interpro/entry/IPR000804 InterPro IPR011012 http://www.ebi.ac.uk/interpro/entry/IPR011012 InterPro IPR016635 http://www.ebi.ac.uk/interpro/entry/IPR016635 InterPro IPR022775 http://www.ebi.ac.uk/interpro/entry/IPR022775 Jabion 8905 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=8905 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Gene hsa:8905 http://www.genome.jp/dbget-bin/www_bget?hsa:8905 KEGG_Orthology KO:K12394 http://www.genome.jp/dbget-bin/www_bget?KO:K12394 KEGG_Pathway ko04142 http://www.genome.jp/kegg-bin/show_pathway?ko04142 MIM 300629 http://www.ncbi.nlm.nih.gov/omim/300629 MIM 304340 http://www.ncbi.nlm.nih.gov/omim/304340 MINT MINT-3021368 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-3021368 Orphanet 1568 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1568 Orphanet 85335 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=85335 PANTHER PTHR11753 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11753 PROSITE PS00989 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00989 PSORT swissprot:AP1S2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:AP1S2_HUMAN PSORT-B swissprot:AP1S2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:AP1S2_HUMAN PSORT2 swissprot:AP1S2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:AP1S2_HUMAN Pfam PF01217 http://pfam.xfam.org/family/PF01217 PharmGKB PA24851 http://www.pharmgkb.org/do/serve?objId=PA24851&objCls=Gene Phobius swissprot:AP1S2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:AP1S2_HUMAN PhylomeDB P56377 http://phylomedb.org/?seqid=P56377 ProteinModelPortal P56377 http://www.proteinmodelportal.org/query/uniprot/P56377 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15471854 http://www.ncbi.nlm.nih.gov/pubmed/15471854 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15772651 http://www.ncbi.nlm.nih.gov/pubmed/15772651 PubMed 17186471 http://www.ncbi.nlm.nih.gov/pubmed/17186471 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 9733768 http://www.ncbi.nlm.nih.gov/pubmed/9733768 Reactome R-HSA-164940 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-164940 Reactome R-HSA-2132295 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2132295 Reactome R-HSA-432720 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-432720 Reactome R-HSA-432722 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-432722 RefSeq NP_003907 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_003907 RefSeq XP_011543901 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011543901 RefSeq XP_016885414 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016885414 SMR P56377 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P56377 STRING 9606.ENSP00000328789 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000328789&targetmode=cogs SUPFAM SSF64356 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF64356 UniGene Hs.121592 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.121592 UniProtKB AP1S2_HUMAN http://www.uniprot.org/uniprot/AP1S2_HUMAN UniProtKB-AC P56377 http://www.uniprot.org/uniprot/P56377 charge swissprot:AP1S2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:AP1S2_HUMAN eggNOG COG5030 http://eggnogapi.embl.de/nog_data/html/tree/COG5030 eggNOG KOG0934 http://eggnogapi.embl.de/nog_data/html/tree/KOG0934 epestfind swissprot:AP1S2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:AP1S2_HUMAN garnier swissprot:AP1S2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:AP1S2_HUMAN helixturnhelix swissprot:AP1S2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:AP1S2_HUMAN hmoment swissprot:AP1S2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:AP1S2_HUMAN iep swissprot:AP1S2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:AP1S2_HUMAN inforesidue swissprot:AP1S2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:AP1S2_HUMAN neXtProt NX_P56377 http://www.nextprot.org/db/entry/NX_P56377 octanol swissprot:AP1S2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:AP1S2_HUMAN pepcoil swissprot:AP1S2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:AP1S2_HUMAN pepdigest swissprot:AP1S2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:AP1S2_HUMAN pepinfo swissprot:AP1S2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:AP1S2_HUMAN pepnet swissprot:AP1S2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:AP1S2_HUMAN pepstats swissprot:AP1S2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:AP1S2_HUMAN pepwheel swissprot:AP1S2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:AP1S2_HUMAN pepwindow swissprot:AP1S2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:AP1S2_HUMAN sigcleave swissprot:AP1S2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:AP1S2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S15A2_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q16348-1; Sequence=Displayed; Name=2; IsoId=Q16348-2; Sequence=VSP_043084; Note=No experimental confirmation available.; # AltName S15A2_HUMAN Kidney H(+)/peptide cotransporter # AltName S15A2_HUMAN Oligopeptide transporter, kidney isoform # AltName S15A2_HUMAN Peptide transporter 2 # CCDS CCDS3007 -. [Q16348-1] # CCDS CCDS54631 -. [Q16348-2] # CDD cd06174 MFS # DrugBank DB00178 Ramipril # DrugBank DB00274 Cefmetazole # DrugBank DB00302 Tranexamic Acid # DrugBank DB00415 Ampicillin # DrugBank DB00438 Ceftazidime # DrugBank DB00456 Cefalotin # DrugBank DB00485 Dicloxacillin # DrugBank DB00492 Fosinopril # DrugBank DB00493 Cefotaxime # DrugBank DB00519 Trandolapril # DrugBank DB00535 Cefdinir # DrugBank DB00542 Benazepril # DrugBank DB00567 Cephalexin # DrugBank DB00577 Valaciclovir # DrugBank DB00671 Cefixime # DrugBank DB00672 Chlorpropamide # DrugBank DB00691 Moexipril # DrugBank DB00713 Oxacillin # DrugBank DB00731 Nateglinide # DrugBank DB00790 Perindopril # DrugBank DB00833 Cefaclor # DrugBank DB00855 Aminolevulinic acid # DrugBank DB00881 Quinapril # DrugBank DB01000 Cyclacillin # DrugBank DB01016 Glyburide # DrugBank DB01053 Benzylpenicillin # DrugBank DB01060 Amoxicillin # DrugBank DB01112 Cefuroxime # DrugBank DB01124 Tolbutamide # DrugBank DB01140 Cefadroxil # DrugBank DB01147 Cloxacillin # DrugBank DB01212 Ceftriaxone # DrugBank DB01333 Cefradine # DrugBank DB01340 Cilazapril # DrugBank DB01348 Spirapril # DrugBank DB01413 Cefepime # DrugBank DB01415 Ceftibuten # DrugBank DB01610 Valganciclovir # DrugBank DB08795 Azidocillin # Ensembl ENST00000295605 ENSP00000295605; ENSG00000163406. [Q16348-2] # Ensembl ENST00000489711 ENSP00000417085; ENSG00000163406. [Q16348-1] # ExpressionAtlas Q16348 baseline and differential # FUNCTION S15A2_HUMAN Proton-coupled intake of oligopeptides of 2 to 4 amino acids with a preference for dipeptides. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0015198 oligopeptide transporter activity; IEA:InterPro. # GO_function S15A2_HUMAN GO 0015333 peptide proton symporter activity; TAS Reactome. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0006811 ion transport; TAS:Reactome. # GO_process GO:0015031 protein transport; IEA:UniProtKB-KW. # GO_process GO:0015893 drug transport; NAS:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # Genevisible Q16348 HS # HGNC HGNC:10921 SLC15A2 # InterPro IPR000109 POT_fam # InterPro IPR004768 Oligopep_transport # InterPro IPR018456 PTR2_symporter_CS # InterPro IPR020846 MFS_dom # InterPro IPR029028 Alpha/beta_knot_MTases # KEGG_Brite ko02001 Solute carrier family # MIM 602339 gene # Organism S15A2_HUMAN Homo sapiens (Human) # PANTHER PTHR11654 PTHR11654; 2 # PIR I52481 I52481 # PROSITE PS01022 PTR2_1 # PROSITE PS01023 PTR2_2 # Pfam PF00854 PTR2; 2 # Proteomes UP000005640 Chromosome 3 # Reactome R-HSA-427975 Proton/oligopeptide cotransporters # RecName S15A2_HUMAN Solute carrier family 15 member 2 # RefSeq NP_001139470 NM_001145998.1. [Q16348-2] # RefSeq NP_066568 NM_021082.3. [Q16348-1] # SIMILARITY Belongs to the PTR2/POT transporter (TC 2.A.17) family. {ECO 0000305}. # SUBCELLULAR LOCATION S15A2_HUMAN Membrane; Multi-pass membrane protein. # SUPFAM SSF103473 SSF103473; 2 # SUPFAM SSF75217 SSF75217 # TCDB 2.A.17.4 the proton-dependent oligopeptide transporter (pot/ptr) family # TIGRFAMs TIGR00926 2A1704 # UCSC uc003eep human. [Q16348-1] # eggNOG COG3104 LUCA # eggNOG KOG1237 Eukaryota BLAST swissprot:S15A2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S15A2_HUMAN BioCyc ZFISH:ENSG00000163406-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000163406-MONOMER COXPRESdb 6565 http://coxpresdb.jp/data/gene/6565.shtml CleanEx HS_SLC15A2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC15A2 DOI 10.1016/0005-2736(95)80036-F http://dx.doi.org/10.1016/0005-2736(95)80036-F DOI 10.1038/nature04728 http://dx.doi.org/10.1038/nature04728 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DrugBank DB00178 http://www.drugbank.ca/drugs/DB00178 DrugBank DB00274 http://www.drugbank.ca/drugs/DB00274 DrugBank DB00302 http://www.drugbank.ca/drugs/DB00302 DrugBank DB00415 http://www.drugbank.ca/drugs/DB00415 DrugBank DB00438 http://www.drugbank.ca/drugs/DB00438 DrugBank DB00456 http://www.drugbank.ca/drugs/DB00456 DrugBank DB00485 http://www.drugbank.ca/drugs/DB00485 DrugBank DB00492 http://www.drugbank.ca/drugs/DB00492 DrugBank DB00493 http://www.drugbank.ca/drugs/DB00493 DrugBank DB00519 http://www.drugbank.ca/drugs/DB00519 DrugBank DB00535 http://www.drugbank.ca/drugs/DB00535 DrugBank DB00542 http://www.drugbank.ca/drugs/DB00542 DrugBank DB00567 http://www.drugbank.ca/drugs/DB00567 DrugBank DB00577 http://www.drugbank.ca/drugs/DB00577 DrugBank DB00671 http://www.drugbank.ca/drugs/DB00671 DrugBank DB00672 http://www.drugbank.ca/drugs/DB00672 DrugBank DB00691 http://www.drugbank.ca/drugs/DB00691 DrugBank DB00713 http://www.drugbank.ca/drugs/DB00713 DrugBank DB00731 http://www.drugbank.ca/drugs/DB00731 DrugBank DB00790 http://www.drugbank.ca/drugs/DB00790 DrugBank DB00833 http://www.drugbank.ca/drugs/DB00833 DrugBank DB00855 http://www.drugbank.ca/drugs/DB00855 DrugBank DB00881 http://www.drugbank.ca/drugs/DB00881 DrugBank DB01000 http://www.drugbank.ca/drugs/DB01000 DrugBank DB01016 http://www.drugbank.ca/drugs/DB01016 DrugBank DB01053 http://www.drugbank.ca/drugs/DB01053 DrugBank DB01060 http://www.drugbank.ca/drugs/DB01060 DrugBank DB01112 http://www.drugbank.ca/drugs/DB01112 DrugBank DB01124 http://www.drugbank.ca/drugs/DB01124 DrugBank DB01140 http://www.drugbank.ca/drugs/DB01140 DrugBank DB01147 http://www.drugbank.ca/drugs/DB01147 DrugBank DB01212 http://www.drugbank.ca/drugs/DB01212 DrugBank DB01333 http://www.drugbank.ca/drugs/DB01333 DrugBank DB01340 http://www.drugbank.ca/drugs/DB01340 DrugBank DB01348 http://www.drugbank.ca/drugs/DB01348 DrugBank DB01413 http://www.drugbank.ca/drugs/DB01413 DrugBank DB01415 http://www.drugbank.ca/drugs/DB01415 DrugBank DB01610 http://www.drugbank.ca/drugs/DB01610 DrugBank DB08795 http://www.drugbank.ca/drugs/DB08795 EMBL AC072031 http://www.ebi.ac.uk/ena/data/view/AC072031 EMBL AK289820 http://www.ebi.ac.uk/ena/data/view/AK289820 EMBL AK304189 http://www.ebi.ac.uk/ena/data/view/AK304189 EMBL CH471052 http://www.ebi.ac.uk/ena/data/view/CH471052 EMBL S78203 http://www.ebi.ac.uk/ena/data/view/S78203 Ensembl ENST00000295605 http://www.ensembl.org/id/ENST00000295605 Ensembl ENST00000489711 http://www.ensembl.org/id/ENST00000489711 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0015198 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015198 GO_function GO:0015333 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015333 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0006811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006811 GO_process GO:0015031 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015031 GO_process GO:0015893 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015893 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GeneCards SLC15A2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC15A2 GeneID 6565 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6565 GeneTree ENSGT00530000062961 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000062961 H-InvDB HIX0024323 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0024323 HGNC HGNC:10921 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10921 HOGENOM HOG000285186 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000285186&db=HOGENOM6 HOVERGEN HBG052962 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052962&db=HOVERGEN InParanoid Q16348 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q16348 InterPro IPR000109 http://www.ebi.ac.uk/interpro/entry/IPR000109 InterPro IPR004768 http://www.ebi.ac.uk/interpro/entry/IPR004768 InterPro IPR018456 http://www.ebi.ac.uk/interpro/entry/IPR018456 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 InterPro IPR029028 http://www.ebi.ac.uk/interpro/entry/IPR029028 Jabion 6565 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6565 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:6565 http://www.genome.jp/dbget-bin/www_bget?hsa:6565 KEGG_Orthology KO:K14637 http://www.genome.jp/dbget-bin/www_bget?KO:K14637 MIM 602339 http://www.ncbi.nlm.nih.gov/omim/602339 OMA FHLKYHN http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=FHLKYHN OrthoDB EOG091G0M1S http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0M1S PANTHER PTHR11654 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11654 PROSITE PS01022 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS01022 PROSITE PS01023 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS01023 PSORT swissprot:S15A2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S15A2_HUMAN PSORT-B swissprot:S15A2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S15A2_HUMAN PSORT2 swissprot:S15A2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S15A2_HUMAN Pfam PF00854 http://pfam.xfam.org/family/PF00854 PharmGKB PA35812 http://www.pharmgkb.org/do/serve?objId=PA35812&objCls=Gene Phobius swissprot:S15A2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S15A2_HUMAN PhylomeDB Q16348 http://phylomedb.org/?seqid=Q16348 ProteinModelPortal Q16348 http://www.proteinmodelportal.org/query/uniprot/Q16348 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 16641997 http://www.ncbi.nlm.nih.gov/pubmed/16641997 PubMed 7756356 http://www.ncbi.nlm.nih.gov/pubmed/7756356 Reactome R-HSA-427975 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-427975 RefSeq NP_001139470 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001139470 RefSeq NP_066568 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_066568 STRING 9606.ENSP00000417085 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000417085&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 SUPFAM SSF75217 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF75217 TCDB 2.A.17.4 http://www.tcdb.org/search/result.php?tc=2.A.17.4 TIGRFAMs TIGR00926 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00926 UCSC uc003eep http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003eep&org=rat UniGene Hs.518089 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.518089 UniProtKB S15A2_HUMAN http://www.uniprot.org/uniprot/S15A2_HUMAN UniProtKB-AC Q16348 http://www.uniprot.org/uniprot/Q16348 charge swissprot:S15A2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S15A2_HUMAN eggNOG COG3104 http://eggnogapi.embl.de/nog_data/html/tree/COG3104 eggNOG KOG1237 http://eggnogapi.embl.de/nog_data/html/tree/KOG1237 epestfind swissprot:S15A2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S15A2_HUMAN garnier swissprot:S15A2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S15A2_HUMAN helixturnhelix swissprot:S15A2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S15A2_HUMAN hmoment swissprot:S15A2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S15A2_HUMAN iep swissprot:S15A2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S15A2_HUMAN inforesidue swissprot:S15A2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S15A2_HUMAN neXtProt NX_Q16348 http://www.nextprot.org/db/entry/NX_Q16348 octanol swissprot:S15A2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S15A2_HUMAN pepcoil swissprot:S15A2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S15A2_HUMAN pepdigest swissprot:S15A2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S15A2_HUMAN pepinfo swissprot:S15A2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S15A2_HUMAN pepnet swissprot:S15A2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S15A2_HUMAN pepstats swissprot:S15A2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S15A2_HUMAN pepwheel swissprot:S15A2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S15A2_HUMAN pepwindow swissprot:S15A2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S15A2_HUMAN sigcleave swissprot:S15A2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S15A2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS MTMR6_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9Y217-1; Sequence=Displayed; Name=2; IsoId=Q9Y217-2; Sequence=VSP_036614, VSP_036615; Note=No experimental confirmation available.; # BRENDA 3.1.3.95 2681 # BioGrid 114558 21 # CCDS CCDS9313 -. [Q9Y217-1] # ChiTaRS MTMR6 human # Ensembl ENST00000381801 ENSP00000371221; ENSG00000139505. [Q9Y217-1] # FUNCTION MTMR6_HUMAN Phosphatase that acts on lipids with a phosphoinositol headgroup. Acts as a negative regulator of KCNN4/KCa3.1 channel activity in CD4+ T-cells possibly by decreasing intracellular levels of phosphatidylinositol 3 phosphatase. Negatively regulates proliferation of reactivated CD4+ T-cells. {ECO 0000269|PubMed 15831468, ECO 0000269|PubMed 16847315}. # GO_component GO:0005635 nuclear envelope; IEA:UniProtKB-SubCell. # GO_component GO:0005737 cytoplasm; IDA:LIFEdb. # GO_component GO:0005829 cytosol; TAS:Reactome. # GO_function GO:0004438 phosphatidylinositol-3-phosphatase activity; TAS:Reactome. # GO_function GO:0004722 protein serine/threonine phosphatase activity; NAS:UniProtKB. # GO_function GO:0004725 protein tyrosine phosphatase activity; NAS:UniProtKB. # GO_function GO:0015269 calcium-activated potassium channel activity; IDA:UniProtKB. # GO_function GO:0052629 phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity; TAS:Reactome. # GO_process GO:0006470 protein dephosphorylation; NAS:UniProtKB. # GO_process GO:0006661 phosphatidylinositol biosynthetic process; TAS:Reactome. # GO_process GO:0046856 phosphatidylinositol dephosphorylation; IEA:InterPro. # GOslim_component GO:0005635 nuclear envelope # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005829 cytosol # GOslim_function GO:0016791 phosphatase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006464 cellular protein modification process # GOslim_process GO:0006629 lipid metabolic process # GOslim_process GO:0009058 biosynthetic process # Gene3D 2.30.29.30 -; 1. # Gene3D 3.90.190.10 -; 1. # Genevisible Q9Y217 HS # HGNC HGNC:7453 MTMR6 # INTERACTION MTMR6_HUMAN Q9Y2J4-4 AMOTL2; NbExp=3; IntAct=EBI-766064, EBI-10187270; Q96QG7 MTMR9; NbExp=8; IntAct=EBI-766064, EBI-744593; Q5JR59 MTUS2; NbExp=3; IntAct=EBI-766064, EBI-742948; Q13287 NMI; NbExp=3; IntAct=EBI-766064, EBI-372942; Q8WTW2 NMI; NbExp=3; IntAct=EBI-766064, EBI-10174268; P14373 TRIM27; NbExp=3; IntAct=EBI-766064, EBI-719493; # IntAct Q9Y217 13 # InterPro IPR003595 Tyr_Pase_cat # InterPro IPR010569 Myotubularin-like_Pase_dom # InterPro IPR011993 PH_dom-like # InterPro IPR016130 Tyr_Pase_AS # InterPro IPR029021 Prot-tyrosine_phosphatase-like # InterPro IPR030564 Myotubularin_fam # InterPro IPR030581 MTMR6 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko01000 Enzymes # KEGG_Pathway ko00051 Fructose and mannose metabolism # MIM 603561 gene # Organism MTMR6_HUMAN Homo sapiens (Human) # PANTHER PTHR10807 PTHR10807 # PANTHER PTHR10807:SF34 PTHR10807:SF34 # PDB 2YF0 X-ray; 2.65 A; A=1-505 # PROSITE PS00383 TYR_PHOSPHATASE_1 # PROSITE PS51339 PPASE_MYOTUBULARIN # Pfam PF06602 Myotub-related # Proteomes UP000005640 Chromosome 13 # Reactome R-HSA-1660499 Synthesis of PIPs at the plasma membrane # RecName MTMR6_HUMAN Myotubularin-related protein 6 # RefSeq NP_004676 NM_004685.3. [Q9Y217-1] # SIMILARITY Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily. {ECO 0000305}. # SIMILARITY Contains 1 myotubularin phosphatase domain. {ECO:0000255|PROSITE-ProRule PRU00669}. # SMART SM00404 PTPc_motif # SUBCELLULAR LOCATION MTMR6_HUMAN Nucleus envelope {ECO 0000269|PubMed 16787938}. # SUBUNIT MTMR6_HUMAN Interacts with ALKBH4, KCNN4, MTMR7, MTMR8 and MTMR9. {ECO 0000269|PubMed 12890864, ECO 0000269|PubMed 15831468, ECO 0000269|PubMed 16787938, ECO 0000269|PubMed 23145062}. # SUPFAM SSF50729 SSF50729 # SUPFAM SSF52799 SSF52799 # TISSUE SPECIFICITY Expressed in CD4+ T-cells. {ECO:0000269|PubMed 16847315}. # TopDownProteomics Q9Y217-1 -. [Q9Y217-1] # UCSC uc001uqf human. [Q9Y217-1] # eggNOG ENOG410XPTU LUCA # eggNOG KOG1089 Eukaryota BLAST swissprot:MTMR6_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:MTMR6_HUMAN BioCyc ZFISH:ENSG00000139505-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000139505-MONOMER COG COG0637 http://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=COG0637 COG COG2045 http://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=COG2045 COXPRESdb 9107 http://coxpresdb.jp/data/gene/9107.shtml CleanEx HS_MTMR6 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_MTMR6 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature02379 http://dx.doi.org/10.1038/nature02379 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1073/pnas.1333958100 http://dx.doi.org/10.1073/pnas.1333958100 DOI 10.1093/hmg/7.11.1703 http://dx.doi.org/10.1093/hmg/7.11.1703 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1128/MCB.00352-06 http://dx.doi.org/10.1128/MCB.00352-06 DOI 10.1128/MCB.25.9.3630-3638.2005 http://dx.doi.org/10.1128/MCB.25.9.3630-3638.2005 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 DOI 10.1242/jcs.03040 http://dx.doi.org/10.1242/jcs.03040 DOI 10.1371/journal.pone.0049045 http://dx.doi.org/10.1371/journal.pone.0049045 EC_number EC:3.1.3.- http://www.genome.jp/dbget-bin/www_bget?EC:3.1.3.- EMBL AF072928 http://www.ebi.ac.uk/ena/data/view/AF072928 EMBL AF406619 http://www.ebi.ac.uk/ena/data/view/AF406619 EMBL AK093237 http://www.ebi.ac.uk/ena/data/view/AK093237 EMBL AK314587 http://www.ebi.ac.uk/ena/data/view/AK314587 EMBL AL590787 http://www.ebi.ac.uk/ena/data/view/AL590787 EMBL AL832017 http://www.ebi.ac.uk/ena/data/view/AL832017 EMBL BC040012 http://www.ebi.ac.uk/ena/data/view/BC040012 ENZYME 3.1.3.- http://enzyme.expasy.org/EC/3.1.3.- Ensembl ENST00000381801 http://www.ensembl.org/id/ENST00000381801 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005635 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005635 GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_function GO:0004438 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004438 GO_function GO:0004722 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004722 GO_function GO:0004725 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004725 GO_function GO:0015269 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015269 GO_function GO:0052629 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0052629 GO_process GO:0006470 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006470 GO_process GO:0006661 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006661 GO_process GO:0046856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046856 GOslim_component GO:0005635 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005635 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_function GO:0016791 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016791 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006464 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006464 GOslim_process GO:0006629 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006629 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 Gene3D 2.30.29.30 http://www.cathdb.info/version/latest/superfamily/2.30.29.30 Gene3D 3.90.190.10 http://www.cathdb.info/version/latest/superfamily/3.90.190.10 GeneCards MTMR6 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=MTMR6 GeneID 9107 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=9107 GeneTree ENSGT00760000118832 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118832 H-InvDB HIX0011183 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0011183 H-InvDB HIX0171878 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0171878 HGNC HGNC:7453 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:7453 HOVERGEN HBG000220 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG000220&db=HOVERGEN HPA HPA034778 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA034778 InParanoid Q9Y217 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9Y217 IntAct Q9Y217 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9Y217* IntEnz 3.1.3 http://www.ebi.ac.uk/intenz/query?cmd=Search&q=3.1.3 InterPro IPR003595 http://www.ebi.ac.uk/interpro/entry/IPR003595 InterPro IPR010569 http://www.ebi.ac.uk/interpro/entry/IPR010569 InterPro IPR011993 http://www.ebi.ac.uk/interpro/entry/IPR011993 InterPro IPR016130 http://www.ebi.ac.uk/interpro/entry/IPR016130 InterPro IPR029021 http://www.ebi.ac.uk/interpro/entry/IPR029021 InterPro IPR030564 http://www.ebi.ac.uk/interpro/entry/IPR030564 InterPro IPR030581 http://www.ebi.ac.uk/interpro/entry/IPR030581 Jabion 9107 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=9107 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Gene hsa:9107 http://www.genome.jp/dbget-bin/www_bget?hsa:9107 KEGG_Orthology KO:K01112 http://www.genome.jp/dbget-bin/www_bget?KO:K01112 KEGG_Pathway ko00051 http://www.genome.jp/kegg-bin/show_pathway?ko00051 KEGG_Reaction rn:R00118 http://www.genome.jp/dbget-bin/www_bget?rn:R00118 KEGG_Reaction rn:R00872 http://www.genome.jp/dbget-bin/www_bget?rn:R00872 KEGG_Reaction rn:R02706 http://www.genome.jp/dbget-bin/www_bget?rn:R02706 MIM 603561 http://www.ncbi.nlm.nih.gov/omim/603561 MINT MINT-2822863 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-2822863 OMA IKFWRGM http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=IKFWRGM OrthoDB EOG091G02LA http://cegg.unige.ch/orthodb/results?searchtext=EOG091G02LA PANTHER PTHR10807 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10807 PANTHER PTHR10807:SF34 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10807:SF34 PDB 2YF0 http://www.ebi.ac.uk/pdbe-srv/view/entry/2YF0 PDBsum 2YF0 http://www.ebi.ac.uk/pdbsum/2YF0 PROSITE PS00383 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00383 PROSITE PS51339 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51339 PSORT swissprot:MTMR6_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:MTMR6_HUMAN PSORT-B swissprot:MTMR6_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:MTMR6_HUMAN PSORT2 swissprot:MTMR6_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:MTMR6_HUMAN Pfam PF06602 http://pfam.xfam.org/family/PF06602 PharmGKB PA31256 http://www.pharmgkb.org/do/serve?objId=PA31256&objCls=Gene Phobius swissprot:MTMR6_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:MTMR6_HUMAN PhylomeDB Q9Y217 http://phylomedb.org/?seqid=Q9Y217 ProteinModelPortal Q9Y217 http://www.proteinmodelportal.org/query/uniprot/Q9Y217 PubMed 12890864 http://www.ncbi.nlm.nih.gov/pubmed/12890864 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15057823 http://www.ncbi.nlm.nih.gov/pubmed/15057823 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15831468 http://www.ncbi.nlm.nih.gov/pubmed/15831468 PubMed 16787938 http://www.ncbi.nlm.nih.gov/pubmed/16787938 PubMed 16847315 http://www.ncbi.nlm.nih.gov/pubmed/16847315 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 23145062 http://www.ncbi.nlm.nih.gov/pubmed/23145062 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 9736772 http://www.ncbi.nlm.nih.gov/pubmed/9736772 Reactome R-HSA-1660499 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1660499 RefSeq NP_004676 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004676 SMART SM00404 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00404 SMR Q9Y217 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9Y217 STRING 9606.ENSP00000371221 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000371221&targetmode=cogs STRING COG0637 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=COG0637&targetmode=cogs STRING COG2045 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=COG2045&targetmode=cogs SUPFAM SSF50729 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF50729 SUPFAM SSF52799 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52799 UCSC uc001uqf http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001uqf&org=rat UniGene Hs.643702 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.643702 UniProtKB MTMR6_HUMAN http://www.uniprot.org/uniprot/MTMR6_HUMAN UniProtKB-AC Q9Y217 http://www.uniprot.org/uniprot/Q9Y217 charge swissprot:MTMR6_HUMAN http://rest.g-language.org/emboss/charge/swissprot:MTMR6_HUMAN eggNOG ENOG410XPTU http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XPTU eggNOG KOG1089 http://eggnogapi.embl.de/nog_data/html/tree/KOG1089 epestfind swissprot:MTMR6_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:MTMR6_HUMAN garnier swissprot:MTMR6_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:MTMR6_HUMAN helixturnhelix swissprot:MTMR6_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:MTMR6_HUMAN hmoment swissprot:MTMR6_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:MTMR6_HUMAN iep swissprot:MTMR6_HUMAN http://rest.g-language.org/emboss/iep/swissprot:MTMR6_HUMAN inforesidue swissprot:MTMR6_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:MTMR6_HUMAN neXtProt NX_Q9Y217 http://www.nextprot.org/db/entry/NX_Q9Y217 octanol swissprot:MTMR6_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:MTMR6_HUMAN pepcoil swissprot:MTMR6_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:MTMR6_HUMAN pepdigest swissprot:MTMR6_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:MTMR6_HUMAN pepinfo swissprot:MTMR6_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:MTMR6_HUMAN pepnet swissprot:MTMR6_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:MTMR6_HUMAN pepstats swissprot:MTMR6_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:MTMR6_HUMAN pepwheel swissprot:MTMR6_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:MTMR6_HUMAN pepwindow swissprot:MTMR6_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:MTMR6_HUMAN sigcleave swissprot:MTMR6_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:MTMR6_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS P2RX6_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O15547-1; Sequence=Displayed; Name=2; IsoId=O15547-2; Sequence=VSP_044799; Note=No experimental confirmation available.; # AltName P2RX6_HUMAN ATP receptor # AltName P2RX6_HUMAN P2XM # AltName P2RX6_HUMAN Purinergic receptor # AltName P2RX6_HUMAN Purinergic receptor P2X-like 1 # BioGrid 114575 4 # CAUTION It is uncertain whether Met-1 or Met-11 is the initiator. {ECO 0000305}. # CCDS CCDS13788 -. [O15547-1] # CCDS CCDS54504 -. [O15547-2] # Ensembl ENST00000401443 ENSP00000385309; ENSG00000099957. [O15547-2] # Ensembl ENST00000413302 ENSP00000416193; ENSG00000099957. [O15547-1] # ExpressionAtlas O15547 baseline and differential # FUNCTION P2RX6_HUMAN Receptor for ATP that acts as a ligand-gated ion channel. {ECO 0000250}. # GO_component GO:0005639 integral component of nuclear inner membrane; IBA:GO_Central. # GO_component GO:0005737 cytoplasm; IDA:BHF-UCL. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0030054 cell junction; IDA:BHF-UCL. # GO_function GO:0001614 purinergic nucleotide receptor activity; NAS:BHF-UCL. # GO_function GO:0004888 transmembrane signaling receptor activity; TAS:ProtInc. # GO_function GO:0004931 extracellular ATP-gated cation channel activity; NAS:BHF-UCL. # GO_function GO:0005524 ATP binding; NAS:BHF-UCL. # GO_function GO:0015267 channel activity; TAS:ProtInc. # GO_function GO:0042802 identical protein binding; IPI:BHF-UCL. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0006936 muscle contraction; TAS:ProtInc. # GO_process GO:0007165 signal transduction; TAS:ProtInc. # GO_process GO:0007596 blood coagulation; TAS:Reactome. # GO_process GO:0033198 response to ATP; IEA:InterPro. # GO_process GO:0051260 protein homooligomerization; IPI:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # Gene3D 2.60.490.10 -; 1. # Genevisible O15547 HS # HGNC HGNC:8538 P2RX6 # InterPro IPR001429 P2X_purnocptor # InterPro IPR003049 P2X6_purnocptor # InterPro IPR027309 P2X_extracellular_dom # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04020 Calcium signaling pathway # KEGG_Pathway ko04080 Neuroactive ligand-receptor interaction # MIM 608077 gene # Organism P2RX6_HUMAN Homo sapiens (Human) # PANTHER PTHR10125 PTHR10125 # PIRSF PIRSF005713 P2X_purinoceptor # PRINTS PR01307 P2XRECEPTOR # PRINTS PR01313 P2X6RECEPTOR # PROSITE PS01212 P2X_RECEPTOR # PTM P2RX6_HUMAN N-glycosylated. {ECO 0000269|PubMed 15657042}. # Pfam PF00864 P2X_receptor # Proteomes UP000005640 Chromosome 22 # Reactome R-HSA-139853 Elevation of cytosolic Ca2+ levels # Reactome R-HSA-418346 Platelet homeostasis # RecName P2RX6_HUMAN P2X purinoceptor 6 # RefSeq NP_001153026 NM_001159554.1. [O15547-2] # RefSeq NP_005437 NM_005446.3. [O15547-1] # SEQUENCE CAUTION P2RX6_HUMAN Sequence=AAF13303.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; Sequence=AAF13303.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part.; Evidence={ECO 0000305}; Sequence=AAH33488.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; Sequence=AAI09210.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; Sequence=BAA22046.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; Sequence=BAA22047.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the P2X receptor family. {ECO 0000305}. # SUBCELLULAR LOCATION P2RX6_HUMAN Membrane; Multi-pass membrane protein. # SUBUNIT Unlike most P2XRs, P2RX6 does not seem to form homotrimers or heterotrimers. {ECO:0000269|PubMed 15657042}. # TIGRFAMs TIGR00863 P2X # TISSUE SPECIFICITY P2RX6_HUMAN Expressed predominantly in skeletal muscle. # UCSC uc002ztz human. [O15547-1] # WEB RESOURCE P2RX6_HUMAN Name=Wikipedia; Note=P2X receptor entry; URL="https //en.wikipedia.org/wiki/P2X_receptor"; # eggNOG ENOG410IFJF Eukaryota # eggNOG ENOG410XR0C LUCA BLAST swissprot:P2RX6_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:P2RX6_HUMAN BioCyc ZFISH:ENSG00000099957-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000099957-MONOMER COXPRESdb 9127 http://coxpresdb.jp/data/gene/9127.shtml CleanEx HS_P2RX6 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_P2RX6 DOI 10.1002/1615-9861(200206)2:6<642::AID-PROT642>3.0.CO http://dx.doi.org/10.1002/1615-9861(200206)2:6<642::AID-PROT642>3.0.CO DOI 10.1038/990031 http://dx.doi.org/10.1038/990031 DOI 10.1074/jbc.M412265200 http://dx.doi.org/10.1074/jbc.M412265200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/gb-2004-5-10-r84 http://dx.doi.org/10.1186/gb-2004-5-10-r84 EMBL AB002058 http://www.ebi.ac.uk/ena/data/view/AB002058 EMBL AB002059 http://www.ebi.ac.uk/ena/data/view/AB002059 EMBL AC002472 http://www.ebi.ac.uk/ena/data/view/AC002472 EMBL AF065385 http://www.ebi.ac.uk/ena/data/view/AF065385 EMBL BC033488 http://www.ebi.ac.uk/ena/data/view/BC033488 EMBL BC109209 http://www.ebi.ac.uk/ena/data/view/BC109209 EMBL CR456535 http://www.ebi.ac.uk/ena/data/view/CR456535 Ensembl ENST00000401443 http://www.ensembl.org/id/ENST00000401443 Ensembl ENST00000413302 http://www.ensembl.org/id/ENST00000413302 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005639 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005639 GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_function GO:0001614 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001614 GO_function GO:0004888 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004888 GO_function GO:0004931 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004931 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0015267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015267 GO_function GO:0042802 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042802 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0006936 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006936 GO_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GO_process GO:0007596 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007596 GO_process GO:0033198 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033198 GO_process GO:0051260 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051260 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 Gene3D 2.60.490.10 http://www.cathdb.info/version/latest/superfamily/2.60.490.10 GeneCards P2RX6 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=P2RX6 GeneID 9127 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=9127 GeneTree ENSGT00390000016028 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000016028 HGNC HGNC:8538 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:8538 HOGENOM HOG000232042 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000232042&db=HOGENOM6 HOVERGEN HBG053086 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG053086&db=HOVERGEN HPA HPA028776 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA028776 HPA HPA028777 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA028777 InParanoid O15547 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O15547 IntAct O15547 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O15547* InterPro IPR001429 http://www.ebi.ac.uk/interpro/entry/IPR001429 InterPro IPR003049 http://www.ebi.ac.uk/interpro/entry/IPR003049 InterPro IPR027309 http://www.ebi.ac.uk/interpro/entry/IPR027309 Jabion 9127 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=9127 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:9127 http://www.genome.jp/dbget-bin/www_bget?hsa:9127 KEGG_Orthology KO:K05221 http://www.genome.jp/dbget-bin/www_bget?KO:K05221 KEGG_Pathway ko04020 http://www.genome.jp/kegg-bin/show_pathway?ko04020 KEGG_Pathway ko04080 http://www.genome.jp/kegg-bin/show_pathway?ko04080 MIM 608077 http://www.ncbi.nlm.nih.gov/omim/608077 OMA VHWDCDL http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=VHWDCDL OrthoDB EOG091G0A2U http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0A2U PANTHER PTHR10125 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10125 PRINTS PR01307 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01307 PRINTS PR01313 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01313 PROSITE PS01212 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS01212 PSORT swissprot:P2RX6_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:P2RX6_HUMAN PSORT-B swissprot:P2RX6_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:P2RX6_HUMAN PSORT2 swissprot:P2RX6_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:P2RX6_HUMAN Pfam PF00864 http://pfam.xfam.org/family/PF00864 PharmGKB PA162398523 http://www.pharmgkb.org/do/serve?objId=PA162398523&objCls=Gene Phobius swissprot:P2RX6_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:P2RX6_HUMAN PhylomeDB O15547 http://phylomedb.org/?seqid=O15547 ProteinModelPortal O15547 http://www.proteinmodelportal.org/query/uniprot/O15547 PubMed 10591208 http://www.ncbi.nlm.nih.gov/pubmed/10591208 PubMed 12112843 http://www.ncbi.nlm.nih.gov/pubmed/12112843 PubMed 15461802 http://www.ncbi.nlm.nih.gov/pubmed/15461802 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15657042 http://www.ncbi.nlm.nih.gov/pubmed/15657042 PubMed 9242461 http://www.ncbi.nlm.nih.gov/pubmed/9242461 Reactome R-HSA-139853 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-139853 Reactome R-HSA-418346 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-418346 RefSeq NP_001153026 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001153026 RefSeq NP_005437 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_005437 SMR O15547 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=O15547 STRING 9606.ENSP00000416193 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000416193&targetmode=cogs TIGRFAMs TIGR00863 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00863 UCSC uc002ztz http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002ztz&org=rat UniGene Hs.113275 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.113275 UniProtKB P2RX6_HUMAN http://www.uniprot.org/uniprot/P2RX6_HUMAN UniProtKB-AC O15547 http://www.uniprot.org/uniprot/O15547 charge swissprot:P2RX6_HUMAN http://rest.g-language.org/emboss/charge/swissprot:P2RX6_HUMAN eggNOG ENOG410IFJF http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IFJF eggNOG ENOG410XR0C http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XR0C epestfind swissprot:P2RX6_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:P2RX6_HUMAN garnier swissprot:P2RX6_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:P2RX6_HUMAN helixturnhelix swissprot:P2RX6_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:P2RX6_HUMAN hmoment swissprot:P2RX6_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:P2RX6_HUMAN iep swissprot:P2RX6_HUMAN http://rest.g-language.org/emboss/iep/swissprot:P2RX6_HUMAN inforesidue swissprot:P2RX6_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:P2RX6_HUMAN neXtProt NX_O15547 http://www.nextprot.org/db/entry/NX_O15547 octanol swissprot:P2RX6_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:P2RX6_HUMAN pepcoil swissprot:P2RX6_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:P2RX6_HUMAN pepdigest swissprot:P2RX6_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:P2RX6_HUMAN pepinfo swissprot:P2RX6_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:P2RX6_HUMAN pepnet swissprot:P2RX6_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:P2RX6_HUMAN pepstats swissprot:P2RX6_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:P2RX6_HUMAN pepwheel swissprot:P2RX6_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:P2RX6_HUMAN pepwindow swissprot:P2RX6_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:P2RX6_HUMAN sigcleave swissprot:P2RX6_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:P2RX6_HUMAN ## Database ID URL or Descriptions # AltName CLIC2_HUMAN XAP121 # BioGrid 107605 6 # DISEASE CLIC2_HUMAN Mental retardation, X-linked, syndromic, 32 (MRXS32) [MIM 300886] A mental retardation syndrome characterized by profound intellectual deficit, delayed psychomotor development beginning in infancy and little or no speech development. Additional features include seizures, large joint contractures, and abnormal positioning of the thumbs. Mental retardation is defined by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO 0000269|PubMed 22814392}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DOMAIN CLIC2_HUMAN Members of this family may change from a globular, soluble state to a state where the N-terminal domain is inserted into the membrane and functions as chloride channel. A conformation change of the N-terminal domain is thought to expose hydrophobic surfaces that trigger membrane insertion. # Ensembl ENST00000369449 ENSP00000358460; ENSG00000155962 # ExpressionAtlas O15247 baseline and differential # FUNCTION CLIC2_HUMAN Can insert into membranes and form chloride ion channels. Channel activity depends on the pH. Membrane insertion seems to be redox-regulated and may occur only under oxydizing conditions. Modulates the activity of RYR2 and inhibits calcium influx. {ECO 0000269|PubMed 15147738, ECO 0000269|PubMed 15916532, ECO 0000269|PubMed 17945253}. # GO_component GO:0005622 intracellular; IDA:LIFEdb. # GO_component GO:0005634 nucleus; TAS:UniProtKB. # GO_component GO:0005737 cytoplasm; TAS:UniProtKB. # GO_component GO:0034707 chloride channel complex; IEA:UniProtKB-KW. # GO_function GO:0004602 glutathione peroxidase activity; IDA:BHF-UCL. # GO_function GO:0005244 voltage-gated ion channel activity; IEA:UniProtKB-KW. # GO_function GO:0005254 chloride channel activity; TAS:ProtInc. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0007165 signal transduction; TAS:UniProtKB. # GO_process GO:0010880 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum; IDA:BHF-UCL. # GO_process GO:0010881 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion; IC:BHF-UCL. # GO_process GO:0051099 positive regulation of binding; IDA:BHF-UCL. # GO_process GO:0060315 negative regulation of ryanodine-sensitive calcium-release channel activity; IDA:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005622 intracellular # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005737 cytoplasm # GOslim_function GO:0016491 oxidoreductase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # Gene3D 1.20.1050.10 -; 1. # Gene3D 3.40.30.10 -; 1. # Genevisible O15247 HS # HGNC HGNC:2063 CLIC2 # InterPro IPR002946 CLIC # InterPro IPR004045 Glutathione_S-Trfase_N # InterPro IPR010987 Glutathione-S-Trfase_C-like # InterPro IPR012336 Thioredoxin-like_fold # InterPro IPR030253 CLIC-2 # KEGG_Brite ko04040 Ion channels # MIM 300138 gene # MIM 300886 phenotype # Organism CLIC2_HUMAN Homo sapiens (Human) # Orphanet 324410 X-linked intellectual disability - cardiomegaly - congestive heart failure # PANTHER PTHR11260:SF133 PTHR11260:SF133; 2 # PDB 2PER X-ray; 2.00 A; A=1-247 # PDB 2R4V X-ray; 1.85 A; A=1-247 # PDB 2R5G X-ray; 1.86 A; A=1-247 # PRINTS PR01263 INTCLCHANNEL # PROSITE PS50405 GST_CTER # Pfam PF13409 GST_N_2 # Proteomes UP000005640 Chromosome X # Reactome R-HSA-2672351 Stimuli-sensing channels # Reactome R-HSA-5578775 Ion homeostasis # RecName CLIC2_HUMAN Chloride intracellular channel protein 2 # RefSeq NP_001280 NM_001289.5 # SEQUENCE CAUTION Sequence=CAA73228.1; Type=Frameshift; Positions=244; Evidence={ECO 0000305}; # SIMILARITY Belongs to the chloride channel CLIC family. {ECO 0000305}. # SIMILARITY Contains 1 GST C-terminal domain. {ECO 0000305}. # SUBCELLULAR LOCATION CLIC2_HUMAN Cytoplasm {ECO 0000269|PubMed 15916532}. Membrane {ECO 0000305|PubMed 15916532}; Single-pass membrane protein {ECO 0000305|PubMed 15916532}. Note=Exists both as soluble cytoplasmic protein and as membrane protein with probably a single transmembrane domain. # SUBUNIT CLIC2_HUMAN Monomer. Interacts with TRAPPC2 and RYR2. {ECO 0000269|PubMed 12681486, ECO 0000269|PubMed 15147738, ECO 0000269|PubMed 15916532, ECO 0000269|PubMed 17945253}. # SUPFAM SSF47616 SSF47616 # SUPFAM SSF52833 SSF52833 # TCDB 1.A.12.1 the intracellular chloride channel (clic) family # TIGRFAMs TIGR00862 O-ClC # TISSUE SPECIFICITY CLIC2_HUMAN Expressed in adult and fetal brain, heart, skeletal muscle, liver, lung, and spleen. Detected in adult stomach and testis. Expressed in fetal thymus and kidney. {ECO 0000269|PubMed 15147738, ECO 0000269|PubMed 22814392}. # UCSC uc004fnf human # eggNOG ENOG410ZRK6 LUCA # eggNOG KOG1422 Eukaryota BLAST swissprot:CLIC2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CLIC2_HUMAN BioCyc ZFISH:ENSG00000155962-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000155962-MONOMER COXPRESdb 1193 http://coxpresdb.jp/data/gene/1193.shtml CleanEx HS_CLIC2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CLIC2 DOI 10.1002/prot.21922 http://dx.doi.org/10.1002/prot.21922 DOI 10.1006/geno.1997.4922 http://dx.doi.org/10.1006/geno.1997.4922 DOI 10.1016/S0014-5793(03)00228-X http://dx.doi.org/10.1016/S0014-5793(03)00228-X DOI 10.1016/j.biocel.2004.01.026 http://dx.doi.org/10.1016/j.biocel.2004.01.026 DOI 10.1016/j.jmb.2007.09.041 http://dx.doi.org/10.1016/j.jmb.2007.09.041 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1038/nature03440 http://dx.doi.org/10.1038/nature03440 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1042/BJ20042113 http://dx.doi.org/10.1042/BJ20042113 DOI 10.1093/hmg/dds292 http://dx.doi.org/10.1093/hmg/dds292 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AJ000217 http://www.ebi.ac.uk/ena/data/view/AJ000217 EMBL AJ000218 http://www.ebi.ac.uk/ena/data/view/AJ000218 EMBL AJ000219 http://www.ebi.ac.uk/ena/data/view/AJ000219 EMBL AK292785 http://www.ebi.ac.uk/ena/data/view/AK292785 EMBL AL356738 http://www.ebi.ac.uk/ena/data/view/AL356738 EMBL BC022305 http://www.ebi.ac.uk/ena/data/view/BC022305 EMBL CH471172 http://www.ebi.ac.uk/ena/data/view/CH471172 EMBL Y12696 http://www.ebi.ac.uk/ena/data/view/Y12696 Ensembl ENST00000369449 http://www.ensembl.org/id/ENST00000369449 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005622 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005622 GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0034707 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034707 GO_function GO:0004602 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004602 GO_function GO:0005244 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005244 GO_function GO:0005254 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005254 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GO_process GO:0010880 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010880 GO_process GO:0010881 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010881 GO_process GO:0051099 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051099 GO_process GO:0060315 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060315 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005622 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005622 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_function GO:0016491 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016491 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 Gene3D 1.20.1050.10 http://www.cathdb.info/version/latest/superfamily/1.20.1050.10 Gene3D 3.40.30.10 http://www.cathdb.info/version/latest/superfamily/3.40.30.10 GeneCards CLIC2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CLIC2 GeneID 1193 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=1193 GeneTree ENSGT00550000074477 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074477 HGNC HGNC:2063 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:2063 HOGENOM HOG000231548 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231548&db=HOGENOM6 HOVERGEN HBG050994 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050994&db=HOVERGEN HPA HPA060101 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA060101 InParanoid O15247 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O15247 IntAct O15247 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O15247* InterPro IPR002946 http://www.ebi.ac.uk/interpro/entry/IPR002946 InterPro IPR004045 http://www.ebi.ac.uk/interpro/entry/IPR004045 InterPro IPR010987 http://www.ebi.ac.uk/interpro/entry/IPR010987 InterPro IPR012336 http://www.ebi.ac.uk/interpro/entry/IPR012336 InterPro IPR030253 http://www.ebi.ac.uk/interpro/entry/IPR030253 Jabion 1193 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=1193 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:1193 http://www.genome.jp/dbget-bin/www_bget?hsa:1193 KEGG_Orthology KO:K05022 http://www.genome.jp/dbget-bin/www_bget?KO:K05022 MIM 300138 http://www.ncbi.nlm.nih.gov/omim/300138 MIM 300886 http://www.ncbi.nlm.nih.gov/omim/300886 MINT MINT-4713986 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-4713986 OMA SYMKSIF http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=SYMKSIF Orphanet 324410 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=324410 OrthoDB EOG091G0IHT http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0IHT PANTHER PTHR11260:SF133 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11260:SF133 PDB 2PER http://www.ebi.ac.uk/pdbe-srv/view/entry/2PER PDB 2R4V http://www.ebi.ac.uk/pdbe-srv/view/entry/2R4V PDB 2R5G http://www.ebi.ac.uk/pdbe-srv/view/entry/2R5G PDBsum 2PER http://www.ebi.ac.uk/pdbsum/2PER PDBsum 2R4V http://www.ebi.ac.uk/pdbsum/2R4V PDBsum 2R5G http://www.ebi.ac.uk/pdbsum/2R5G PRINTS PR01263 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01263 PROSITE PS50405 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50405 PSORT swissprot:CLIC2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CLIC2_HUMAN PSORT-B swissprot:CLIC2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CLIC2_HUMAN PSORT2 swissprot:CLIC2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CLIC2_HUMAN Pfam PF13409 http://pfam.xfam.org/family/PF13409 PharmGKB PA26589 http://www.pharmgkb.org/do/serve?objId=PA26589&objCls=Gene Phobius swissprot:CLIC2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CLIC2_HUMAN PhylomeDB O15247 http://phylomedb.org/?seqid=O15247 ProteinModelPortal O15247 http://www.proteinmodelportal.org/query/uniprot/O15247 PubMed 12681486 http://www.ncbi.nlm.nih.gov/pubmed/12681486 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15147738 http://www.ncbi.nlm.nih.gov/pubmed/15147738 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15772651 http://www.ncbi.nlm.nih.gov/pubmed/15772651 PubMed 15916532 http://www.ncbi.nlm.nih.gov/pubmed/15916532 PubMed 17945253 http://www.ncbi.nlm.nih.gov/pubmed/17945253 PubMed 18186468 http://www.ncbi.nlm.nih.gov/pubmed/18186468 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 22814392 http://www.ncbi.nlm.nih.gov/pubmed/22814392 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 9339381 http://www.ncbi.nlm.nih.gov/pubmed/9339381 Reactome R-HSA-2672351 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2672351 Reactome R-HSA-5578775 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5578775 RefSeq NP_001280 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001280 SMR O15247 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=O15247 STRING 9606.ENSP00000358460 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000358460&targetmode=cogs SUPFAM SSF47616 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF47616 SUPFAM SSF52833 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52833 TCDB 1.A.12.1 http://www.tcdb.org/search/result.php?tc=1.A.12.1 TIGRFAMs TIGR00862 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00862 UCSC uc004fnf http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc004fnf&org=rat UniGene Hs.655445 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.655445 UniProtKB CLIC2_HUMAN http://www.uniprot.org/uniprot/CLIC2_HUMAN UniProtKB-AC O15247 http://www.uniprot.org/uniprot/O15247 charge swissprot:CLIC2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CLIC2_HUMAN eggNOG ENOG410ZRK6 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410ZRK6 eggNOG KOG1422 http://eggnogapi.embl.de/nog_data/html/tree/KOG1422 epestfind swissprot:CLIC2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CLIC2_HUMAN garnier swissprot:CLIC2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CLIC2_HUMAN helixturnhelix swissprot:CLIC2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CLIC2_HUMAN hmoment swissprot:CLIC2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CLIC2_HUMAN iep swissprot:CLIC2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CLIC2_HUMAN inforesidue swissprot:CLIC2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CLIC2_HUMAN neXtProt NX_O15247 http://www.nextprot.org/db/entry/NX_O15247 octanol swissprot:CLIC2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CLIC2_HUMAN pepcoil swissprot:CLIC2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CLIC2_HUMAN pepdigest swissprot:CLIC2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CLIC2_HUMAN pepinfo swissprot:CLIC2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CLIC2_HUMAN pepnet swissprot:CLIC2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CLIC2_HUMAN pepstats swissprot:CLIC2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CLIC2_HUMAN pepwheel swissprot:CLIC2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CLIC2_HUMAN pepwindow swissprot:CLIC2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CLIC2_HUMAN sigcleave swissprot:CLIC2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CLIC2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS AT5G2_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q06055-1; Sequence=Displayed; Name=2; IsoId=Q06055-2; Sequence=VSP_037348; Note=Derived from EST data.; Name=3; IsoId=Q06055-3; Sequence=VSP_037349; Note=Derived from EST data.; # AltName AT5G2_HUMAN ATP synthase lipid-binding protein # AltName AT5G2_HUMAN ATP synthase proteolipid P2 # AltName AT5G2_HUMAN ATP synthase proton-transporting mitochondrial F(0) complex subunit C2 # AltName AT5G2_HUMAN ATPase protein 9 # AltName AT5G2_HUMAN ATPase subunit c # BioGrid 107002 3 # CCDS CCDS31812 -. [Q06055-3] # CCDS CCDS81694 -. [Q06055-1] # CCDS CCDS8863 -. [Q06055-2] # ChiTaRS ATP5G2 human # Ensembl ENST00000338662 ENSP00000340315; ENSG00000135390. [Q06055-3] # Ensembl ENST00000394349 ENSP00000377878; ENSG00000135390. [Q06055-2] # Ensembl ENST00000549164 ENSP00000447317; ENSG00000135390. [Q06055-1] # Ensembl ENST00000552242 ENSP00000448801; ENSG00000135390. [Q06055-1] # Ensembl ENST00000602871 ENSP00000473535; ENSG00000135390. [Q06055-1] # ExpressionAtlas Q06055 baseline and differential # FUNCTION AT5G2_HUMAN Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(0) domain. A homomeric c-ring of probably 10 subunits is part of the complex rotary element. # GO_component GO:0000276 mitochondrial proton-transporting ATP synthase complex, coupling factor F(o); IBA:GO_Central. # GO_component GO:0005741 mitochondrial outer membrane; TAS:Reactome. # GO_component GO:0005753 mitochondrial proton-transporting ATP synthase complex; TAS:ProtInc. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0005215 transporter activity; NAS:ProtInc. # GO_function GO:0008289 lipid binding; IEA:UniProtKB-KW. # GO_function GO:0046933 proton-transporting ATP synthase activity, rotational mechanism; IBA:GO_Central. # GO_process GO:0006754 ATP biosynthetic process; TAS:Reactome. # GO_process GO:0015986 ATP synthesis coupled proton transport; IBA:GO_Central. # GO_process GO:0015991 ATP hydrolysis coupled proton transport; IEA:InterPro. # GO_process GO:0042776 mitochondrial ATP synthesis coupled proton transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0008289 lipid binding # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0044281 small molecule metabolic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.20.20.10 -; 1. # Genevisible Q06055 HS # HAMAP MF_01396 ATP_synth_c_bact # HGNC HGNC:842 ATP5G2 # IntAct Q06055 3 # InterPro IPR000454 ATP_synth_F0_csu # InterPro IPR002379 ATPase_proteolipid_c-like_dom # InterPro IPR020537 ATP_synth_F0_csu_DDCD_BS # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Brite ko01000 Enzymes # KEGG_Pathway ko00190 Oxidative phosphorylation # KEGG_Pathway ko05010 Alzheimer's disease # KEGG_Pathway ko05012 Parkinson's disease # KEGG_Pathway ko05016 Huntington's disease # MIM 603193 gene # MISCELLANEOUS AT5G2_HUMAN There are three genes which encode the mitochondrial ATP synthase proteolipid and they specify precursors with different import sequences but identical mature proteins. Is the major protein stored in the storage bodies of animals or humans affected with ceroid lipofuscinosis (Batten disease). # Organism AT5G2_HUMAN Homo sapiens (Human) # PIR S34067 S34067 # PRINTS PR00124 ATPASEC # PROSITE PS00605 ATPASE_C # Pfam PF00137 ATP-synt_C # Proteomes UP000005640 Chromosome 12 # Reactome R-HSA-163210 Formation of ATP by chemiosmotic coupling # RecName AT5G2_HUMAN ATP synthase F(0) complex subunit C2, mitochondrial # RefSeq NP_001002031 NM_001002031.2. [Q06055-3] # RefSeq NP_001317198 NM_001330269.1 # RefSeq NP_005167 NM_005176.5. [Q06055-2] # RefSeq XP_016874949 XM_017019460.1. [Q06055-2] # RefSeq XP_016874950 XM_017019461.1. [Q06055-3] # SIMILARITY Belongs to the ATPase C chain family. {ECO 0000305}. # SUBCELLULAR LOCATION AT5G2_HUMAN Mitochondrion membrane; Multi-pass membrane protein. # SUBUNIT F-type ATPases have 2 components, CF(1) - the catalytic core - and CF(0) - the membrane proton channel. CF(1) has five subunits: alpha(3), beta(3), gamma(1), delta(1), epsilon(1). CF(0) has three main subunits a, b and c. # SUPFAM SSF81333 SSF81333 # TopDownProteomics Q06055-1 -. [Q06055-1] # TopDownProteomics Q06055-2 -. [Q06055-2] # UCSC uc001sec human. [Q06055-1] # eggNOG COG0636 LUCA # eggNOG KOG3025 Eukaryota BLAST swissprot:AT5G2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:AT5G2_HUMAN BioCyc ZFISH:HS05994-MONOMER http://biocyc.org/getid?id=ZFISH:HS05994-MONOMER COG COG0636 http://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=COG0636 COXPRESdb 517 http://coxpresdb.jp/data/gene/517.shtml CleanEx HS_ATP5G2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ATP5G2 DOI 10.1016/0006-291X(87)91446-X http://dx.doi.org/10.1016/0006-291X(87)91446-X DOI 10.1016/0167-4781(93)90249-D http://dx.doi.org/10.1016/0167-4781(93)90249-D DOI 10.1038/nature04569 http://dx.doi.org/10.1038/nature04569 DOI 10.1042/bj2930051 http://dx.doi.org/10.1042/bj2930051 DOI 10.1093/dnares/12.2.117 http://dx.doi.org/10.1093/dnares/12.2.117 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AC073594 http://www.ebi.ac.uk/ena/data/view/AC073594 EMBL AK075351 http://www.ebi.ac.uk/ena/data/view/AK075351 EMBL BC020826 http://www.ebi.ac.uk/ena/data/view/BC020826 EMBL D13119 http://www.ebi.ac.uk/ena/data/view/D13119 EMBL X69908 http://www.ebi.ac.uk/ena/data/view/X69908 Ensembl ENST00000338662 http://www.ensembl.org/id/ENST00000338662 Ensembl ENST00000394349 http://www.ensembl.org/id/ENST00000394349 Ensembl ENST00000549164 http://www.ensembl.org/id/ENST00000549164 Ensembl ENST00000552242 http://www.ensembl.org/id/ENST00000552242 Ensembl ENST00000602871 http://www.ensembl.org/id/ENST00000602871 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000276 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000276 GO_component GO:0005741 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005741 GO_component GO:0005753 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005753 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005215 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005215 GO_function GO:0008289 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008289 GO_function GO:0046933 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046933 GO_process GO:0006754 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006754 GO_process GO:0015986 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015986 GO_process GO:0015991 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015991 GO_process GO:0042776 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042776 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0008289 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008289 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.20.20.10 http://www.cathdb.info/version/latest/superfamily/1.20.20.10 GeneCards ATP5G2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ATP5G2 GeneID 517 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=517 GeneTree ENSGT00390000006210 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000006210 H-InvDB HIX0201895 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0201895 HAMAP MF_01396 http://hamap.expasy.org/unirule/MF_01396 HGNC HGNC:842 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:842 HOGENOM HOG000235246 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000235246&db=HOGENOM6 HOVERGEN HBG050605 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050605&db=HOVERGEN HPA HPA051469 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA051469 InParanoid Q06055 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q06055 IntAct Q06055 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q06055* InterPro IPR000454 http://www.ebi.ac.uk/interpro/entry/IPR000454 InterPro IPR002379 http://www.ebi.ac.uk/interpro/entry/IPR002379 InterPro IPR020537 http://www.ebi.ac.uk/interpro/entry/IPR020537 Jabion 517 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=517 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00002 http://www.genome.jp/dbget-bin/www_bget?ko00002 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Gene hsa:517 http://www.genome.jp/dbget-bin/www_bget?hsa:517 KEGG_Orthology KO:K02128 http://www.genome.jp/dbget-bin/www_bget?KO:K02128 KEGG_Pathway ko00190 http://www.genome.jp/kegg-bin/show_pathway?ko00190 KEGG_Pathway ko05010 http://www.genome.jp/kegg-bin/show_pathway?ko05010 KEGG_Pathway ko05012 http://www.genome.jp/kegg-bin/show_pathway?ko05012 KEGG_Pathway ko05016 http://www.genome.jp/kegg-bin/show_pathway?ko05016 MIM 603193 http://www.ncbi.nlm.nih.gov/omim/603193 OMA HPLKMYT http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=HPLKMYT OrthoDB EOG091G13J1 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G13J1 PRINTS PR00124 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00124 PROSITE PS00605 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00605 PSORT swissprot:AT5G2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:AT5G2_HUMAN PSORT-B swissprot:AT5G2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:AT5G2_HUMAN PSORT2 swissprot:AT5G2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:AT5G2_HUMAN Pfam PF00137 http://pfam.xfam.org/family/PF00137 PharmGKB PA25132 http://www.pharmgkb.org/do/serve?objId=PA25132&objCls=Gene Phobius swissprot:AT5G2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:AT5G2_HUMAN PhylomeDB Q06055 http://phylomedb.org/?seqid=Q06055 ProteinModelPortal Q06055 http://www.proteinmodelportal.org/query/uniprot/Q06055 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16303743 http://www.ncbi.nlm.nih.gov/pubmed/16303743 PubMed 16541075 http://www.ncbi.nlm.nih.gov/pubmed/16541075 PubMed 2883974 http://www.ncbi.nlm.nih.gov/pubmed/2883974 PubMed 8328972 http://www.ncbi.nlm.nih.gov/pubmed/8328972 PubMed 8485160 http://www.ncbi.nlm.nih.gov/pubmed/8485160 Reactome R-HSA-163210 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-163210 RefSeq NP_001002031 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001002031 RefSeq NP_001317198 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001317198 RefSeq NP_005167 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_005167 RefSeq XP_016874949 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016874949 RefSeq XP_016874950 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016874950 STRING 9606.ENSP00000377878 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000377878&targetmode=cogs STRING COG0636 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=COG0636&targetmode=cogs SUPFAM SSF81333 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81333 UCSC uc001sec http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001sec&org=rat UniGene Hs.524464 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.524464 UniProtKB AT5G2_HUMAN http://www.uniprot.org/uniprot/AT5G2_HUMAN UniProtKB-AC Q06055 http://www.uniprot.org/uniprot/Q06055 charge swissprot:AT5G2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:AT5G2_HUMAN eggNOG COG0636 http://eggnogapi.embl.de/nog_data/html/tree/COG0636 eggNOG KOG3025 http://eggnogapi.embl.de/nog_data/html/tree/KOG3025 epestfind swissprot:AT5G2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:AT5G2_HUMAN garnier swissprot:AT5G2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:AT5G2_HUMAN helixturnhelix swissprot:AT5G2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:AT5G2_HUMAN hmoment swissprot:AT5G2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:AT5G2_HUMAN iep swissprot:AT5G2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:AT5G2_HUMAN inforesidue swissprot:AT5G2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:AT5G2_HUMAN neXtProt NX_Q06055 http://www.nextprot.org/db/entry/NX_Q06055 octanol swissprot:AT5G2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:AT5G2_HUMAN pepcoil swissprot:AT5G2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:AT5G2_HUMAN pepdigest swissprot:AT5G2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:AT5G2_HUMAN pepinfo swissprot:AT5G2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:AT5G2_HUMAN pepnet swissprot:AT5G2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:AT5G2_HUMAN pepstats swissprot:AT5G2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:AT5G2_HUMAN pepwheel swissprot:AT5G2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:AT5G2_HUMAN pepwindow swissprot:AT5G2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:AT5G2_HUMAN sigcleave swissprot:AT5G2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:AT5G2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=delta1; IsoId=P51172-1; Sequence=Displayed; Name=2; Synonyms=delta2; IsoId=P51172-2; Sequence=VSP_007725; Note=Channels including isoform 2 exhibit greater conductance than those containing isoform 1. Ref.2 (ABI64069) sequence is in conflict in position: 78 T->A. {ECO:0000305}; # AltName SCNND_HUMAN Delta-NaCH # AltName SCNND_HUMAN Epithelial Na(+) channel subunit delta # AltName SCNND_HUMAN Nonvoltage-gated sodium channel 1 subunit delta # AltName SCNND_HUMAN SCNED # BioGrid 112243 21 # DrugBank DB00384 Triamterene # DrugBank DB00594 Amiloride # Ensembl ENST00000325425 ENSP00000321594; ENSG00000162572. [P51172-2] # Ensembl ENST00000338555 ENSP00000339504; ENSG00000162572. [P51172-1] # Ensembl ENST00000400928 ENSP00000383717; ENSG00000162572. [P51172-1] # ExpressionAtlas P51172 baseline and differential # FUNCTION SCNND_HUMAN Sodium permeable non-voltage-sensitive ion channel inhibited by the diuretic amiloride. Mediates the electrodiffusion of the luminal sodium (and water, which follows osmotically) through the apical membrane of epithelial cells. Controls the reabsorption of sodium in kidney, colon, lung and sweat glands. Also plays a role in taste perception. {ECO 0000269|PubMed 16423824, ECO 0000269|PubMed 7499195}. # GO_component GO:0005886 plasma membrane; IDA:HPA. # GO_component GO:0015629 actin cytoskeleton; IDA:HPA. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0015280 ligand-gated sodium channel activity; TAS:ProtInc. # GO_process GO:0006814 sodium ion transport; TAS:ProtInc. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0050896 response to stimulus; IEA:UniProtKB-KW. # GO_process GO:0050909 sensory perception of taste; IEA:UniProtKB-KW. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005856 cytoskeleton # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0050877 neurological system process # GOslim_process GO:0055085 transmembrane transport # Genevisible P51172 HS # HGNC HGNC:10601 SCNN1D # INTERACTION SCNND_HUMAN Q8N668 COMMD1; NbExp=3; IntAct=EBI-2547114, EBI-1550112; # IntAct P51172 3 # InterPro IPR001873 Na+channel_ASC # InterPro IPR004724 ENaC # InterPro IPR020903 Na+channel_ASC_CS # KEGG_Brite ko04040 Ion channels # MIM 601328 gene # Organism SCNND_HUMAN Homo sapiens (Human) # PANTHER PTHR11690 PTHR11690 # PIR I39196 I39196 # PRINTS PR01078 AMINACHANNEL # PROSITE PS01206 ASC # Pfam PF00858 ASC # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-2672351 Stimuli-sensing channels # RecName SCNND_HUMAN Amiloride-sensitive sodium channel subunit delta # RefSeq NP_001123885 NM_001130413.3 # RefSeq XP_011540227 XM_011541925.2. [P51172-2] # RefSeq XP_011540234 XM_011541932.2. [P51172-1] # RefSeq XP_011540235 XM_011541933.2. [P51172-1] # SIMILARITY Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family. SCNN1D subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION SCNND_HUMAN Cell membrane {ECO 0000269|PubMed 19520916}; Multi-pass membrane protein {ECO 0000269|PubMed 19520916}. # SUBUNIT SCNND_HUMAN Heterotrimer containing a delta/SCNN1D, a beta/SCNN1B and a gamma/SCNN1G subunit. The additional delta/SCNN1D subunit exists only in some organisms and can replace the alpha/SCNN1A subunit to form an alternative channel with specific properties. {ECO 0000269|PubMed 16423824, ECO 0000269|PubMed 7499195}. # TCDB 1.A.6.1 the epithelial na(+) channel (enac) family # TIGRFAMs TIGR00859 ENaC # UCSC uc001adw human. [P51172-1] # eggNOG ENOG410ZNFK LUCA # eggNOG KOG4294 Eukaryota BLAST swissprot:SCNND_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SCNND_HUMAN BioCyc ZFISH:ENSG00000162572-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000162572-MONOMER COXPRESdb 6339 http://coxpresdb.jp/data/gene/6339.shtml CleanEx HS_SCNN1D http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SCNN1D DOI 10.1016/j.gene.2015.12.061 http://dx.doi.org/10.1016/j.gene.2015.12.061 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.270.46.27411 http://dx.doi.org/10.1074/jbc.270.46.27411 DOI 10.1074/jbc.M512293200 http://dx.doi.org/10.1074/jbc.M512293200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1152/ajplung.00331.2011 http://dx.doi.org/10.1152/ajplung.00331.2011 DOI 10.1165/rcmb.2009-0053OC http://dx.doi.org/10.1165/rcmb.2009-0053OC DrugBank DB00384 http://www.drugbank.ca/drugs/DB00384 DrugBank DB00594 http://www.drugbank.ca/drugs/DB00594 EMBL AK093239 http://www.ebi.ac.uk/ena/data/view/AK093239 EMBL AK127357 http://www.ebi.ac.uk/ena/data/view/AK127357 EMBL AL162741 http://www.ebi.ac.uk/ena/data/view/AL162741 EMBL AL162741 http://www.ebi.ac.uk/ena/data/view/AL162741 EMBL BC036752 http://www.ebi.ac.uk/ena/data/view/BC036752 EMBL BC125074 http://www.ebi.ac.uk/ena/data/view/BC125074 EMBL DQ898176 http://www.ebi.ac.uk/ena/data/view/DQ898176 EMBL EU489064 http://www.ebi.ac.uk/ena/data/view/EU489064 EMBL U38254 http://www.ebi.ac.uk/ena/data/view/U38254 Ensembl ENST00000325425 http://www.ensembl.org/id/ENST00000325425 Ensembl ENST00000338555 http://www.ensembl.org/id/ENST00000338555 Ensembl ENST00000400928 http://www.ensembl.org/id/ENST00000400928 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0015629 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015629 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0015280 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015280 GO_process GO:0006814 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006814 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0050896 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050896 GO_process GO:0050909 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050909 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005856 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SCNN1D http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SCNN1D GeneID 6339 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6339 GeneTree ENSGT00760000119120 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119120 H-InvDB HIX0000018 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0000018 HGNC HGNC:10601 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10601 HOGENOM HOG000236286 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000236286&db=HOGENOM6 HOVERGEN HBG058435 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG058435&db=HOVERGEN HPA CAB009540 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB009540 HPA HPA026884 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA026884 InParanoid P51172 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P51172 IntAct P51172 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P51172* InterPro IPR001873 http://www.ebi.ac.uk/interpro/entry/IPR001873 InterPro IPR004724 http://www.ebi.ac.uk/interpro/entry/IPR004724 InterPro IPR020903 http://www.ebi.ac.uk/interpro/entry/IPR020903 Jabion 6339 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6339 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:6339 http://www.genome.jp/dbget-bin/www_bget?hsa:6339 KEGG_Orthology KO:K04826 http://www.genome.jp/dbget-bin/www_bget?KO:K04826 MIM 601328 http://www.ncbi.nlm.nih.gov/omim/601328 PANTHER PTHR11690 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11690 PRINTS PR01078 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01078 PROSITE PS01206 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS01206 PSORT swissprot:SCNND_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SCNND_HUMAN PSORT-B swissprot:SCNND_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SCNND_HUMAN PSORT2 swissprot:SCNND_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SCNND_HUMAN Pfam PF00858 http://pfam.xfam.org/family/PF00858 PharmGKB PA35011 http://www.pharmgkb.org/do/serve?objId=PA35011&objCls=Gene Phobius swissprot:SCNND_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SCNND_HUMAN PhylomeDB P51172 http://phylomedb.org/?seqid=P51172 ProteinModelPortal P51172 http://www.proteinmodelportal.org/query/uniprot/P51172 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16423824 http://www.ncbi.nlm.nih.gov/pubmed/16423824 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 19520916 http://www.ncbi.nlm.nih.gov/pubmed/19520916 PubMed 22505667 http://www.ncbi.nlm.nih.gov/pubmed/22505667 PubMed 26772908 http://www.ncbi.nlm.nih.gov/pubmed/26772908 PubMed 7499195 http://www.ncbi.nlm.nih.gov/pubmed/7499195 Reactome R-HSA-2672351 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2672351 RefSeq NP_001123885 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001123885 RefSeq XP_011540227 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011540227 RefSeq XP_011540234 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011540234 RefSeq XP_011540235 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011540235 STRING 9606.ENSP00000368411 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000368411&targetmode=cogs TCDB 1.A.6.1 http://www.tcdb.org/search/result.php?tc=1.A.6.1 TIGRFAMs TIGR00859 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00859 UCSC uc001adw http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001adw&org=rat UniGene Hs.512681 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.512681 UniProtKB SCNND_HUMAN http://www.uniprot.org/uniprot/SCNND_HUMAN UniProtKB-AC P51172 http://www.uniprot.org/uniprot/P51172 charge swissprot:SCNND_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SCNND_HUMAN eggNOG ENOG410ZNFK http://eggnogapi.embl.de/nog_data/html/tree/ENOG410ZNFK eggNOG KOG4294 http://eggnogapi.embl.de/nog_data/html/tree/KOG4294 epestfind swissprot:SCNND_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SCNND_HUMAN garnier swissprot:SCNND_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SCNND_HUMAN helixturnhelix swissprot:SCNND_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SCNND_HUMAN hmoment swissprot:SCNND_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SCNND_HUMAN iep swissprot:SCNND_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SCNND_HUMAN inforesidue swissprot:SCNND_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SCNND_HUMAN neXtProt NX_P51172 http://www.nextprot.org/db/entry/NX_P51172 octanol swissprot:SCNND_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SCNND_HUMAN pepcoil swissprot:SCNND_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SCNND_HUMAN pepdigest swissprot:SCNND_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SCNND_HUMAN pepinfo swissprot:SCNND_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SCNND_HUMAN pepnet swissprot:SCNND_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SCNND_HUMAN pepstats swissprot:SCNND_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SCNND_HUMAN pepwheel swissprot:SCNND_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SCNND_HUMAN pepwindow swissprot:SCNND_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SCNND_HUMAN sigcleave swissprot:SCNND_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SCNND_HUMAN ## Database ID URL or Descriptions # AltName LAT1_HUMAN 4F2 light chain # AltName LAT1_HUMAN CD98 light chain # AltName LAT1_HUMAN Integral membrane protein E16 # AltName LAT1_HUMAN L-type amino acid transporter 1 # AltName LAT1_HUMAN Solute carrier family 7 member 5 # AltName LAT1_HUMAN y+ system cationic amino acid transporter # BIOPHYSICOCHEMICAL PROPERTIES LAT1_HUMAN Kinetic parameters KM=7.9 uM for T4 (in the presence of choline chloride) {ECO 0000269|PubMed 10574970, ECO 0000269|PubMed 11564694, ECO 0000269|PubMed 12117417, ECO 0000269|PubMed 12225859, ECO 0000269|PubMed 18262359}; KM=0.8 uM for T3 (in the presence of choline chloride) {ECO 0000269|PubMed 10574970, ECO 0000269|PubMed 11564694, ECO 0000269|PubMed 12117417, ECO 0000269|PubMed 12225859, ECO 0000269|PubMed 18262359}; KM=12.5 uM for reverse triiodothyronine (rT3) (in the presence of choline chloride) {ECO 0000269|PubMed 10574970, ECO 0000269|PubMed 11564694, ECO 0000269|PubMed 12117417, ECO 0000269|PubMed 12225859, ECO 0000269|PubMed 18262359}; KM=7.9 uM for 3,3'-diiodothyronine (in the presence of choline chloride) {ECO 0000269|PubMed 10574970, ECO 0000269|PubMed 11564694, ECO 0000269|PubMed 12117417, ECO 0000269|PubMed 12225859, ECO 0000269|PubMed 18262359}; KM=46 uM for leucine (in the presence of choline chloride) {ECO 0000269|PubMed 10574970, ECO 0000269|PubMed 11564694, ECO 0000269|PubMed 12117417, ECO 0000269|PubMed 12225859, ECO 0000269|PubMed 18262359}; KM=19 uM for tryptophan (in the presence of choline chloride) {ECO 0000269|PubMed 10574970, ECO 0000269|PubMed 11564694, ECO 0000269|PubMed 12117417, ECO 0000269|PubMed 12225859, ECO 0000269|PubMed 18262359}; KM=32 uM for L-leucine {ECO 0000269|PubMed 10574970, ECO 0000269|PubMed 11564694, ECO 0000269|PubMed 12117417, ECO 0000269|PubMed 12225859, ECO 0000269|PubMed 18262359}; KM=10 mM for L-alanine {ECO 0000269|PubMed 10574970, ECO 0000269|PubMed 11564694, ECO 0000269|PubMed 12117417, ECO 0000269|PubMed 12225859, ECO 0000269|PubMed 18262359}; KM=2.2 mM for L-glutamine {ECO 0000269|PubMed 10574970, ECO 0000269|PubMed 11564694, ECO 0000269|PubMed 12117417, ECO 0000269|PubMed 12225859, ECO 0000269|PubMed 18262359}; KM=35 uM for L-histidine {ECO 0000269|PubMed 10574970, ECO 0000269|PubMed 11564694, ECO 0000269|PubMed 12117417, ECO 0000269|PubMed 12225859, ECO 0000269|PubMed 18262359}; KM=740 uM for L-phenylalanine {ECO 0000269|PubMed 10574970, ECO 0000269|PubMed 11564694, ECO 0000269|PubMed 12117417, ECO 0000269|PubMed 12225859, ECO 0000269|PubMed 18262359}; KM=98 uM for MeHg-L-cysteine {ECO 0000269|PubMed 10574970, ECO 0000269|PubMed 11564694, ECO 0000269|PubMed 12117417, ECO 0000269|PubMed 12225859, ECO 0000269|PubMed 18262359}; KM=99 uM for methionine {ECO 0000269|PubMed 10574970, ECO 0000269|PubMed 11564694, ECO 0000269|PubMed 12117417, ECO 0000269|PubMed 12225859, ECO 0000269|PubMed 18262359}; KM=55.2 uM for phenylalanine (in T24 human bladder carcinoma cells) {ECO 0000269|PubMed 10574970, ECO 0000269|PubMed 11564694, ECO 0000269|PubMed 12117417, ECO 0000269|PubMed 12225859, ECO 0000269|PubMed 18262359}; KM=60.4 uM for tyrosine (in T24 human bladder carcinoma cells) {ECO 0000269|PubMed 10574970, ECO 0000269|PubMed 11564694, ECO 0000269|PubMed 12117417, ECO 0000269|PubMed 12225859, ECO 0000269|PubMed 18262359}; KM=16.4 uM for tyrosine (in human fibroblasts) {ECO 0000269|PubMed 10574970, ECO 0000269|PubMed 11564694, ECO 0000269|PubMed 12117417, ECO 0000269|PubMed 12225859, ECO 0000269|PubMed 18262359}; KM=138 uM for Dopa (in T24 human bladder carcinoma cells) {ECO 0000269|PubMed 10574970, ECO 0000269|PubMed 11564694, ECO 0000269|PubMed 12117417, ECO 0000269|PubMed 12225859, ECO 0000269|PubMed 18262359}; KM=96.5 uM for 3-O-methyldopa (in T24 human bladder carcinoma cells) {ECO 0000269|PubMed 10574970, ECO 0000269|PubMed 11564694, ECO 0000269|PubMed 12117417, ECO 0000269|PubMed 12225859, ECO 0000269|PubMed 18262359}; KM=153 uM for alpha-methyltyrosine (in T24 human bladder carcinoma cells) {ECO 0000269|PubMed 10574970, ECO 0000269|PubMed 11564694, ECO 0000269|PubMed 12117417, ECO 0000269|PubMed 12225859, ECO 0000269|PubMed 18262359}; KM=216 uM for alpha-methyldopa (in T24 human bladder carcinoma cells) {ECO 0000269|PubMed 10574970, ECO 0000269|PubMed 11564694, ECO 0000269|PubMed 12117417, ECO 0000269|PubMed 12225859, ECO 0000269|PubMed 18262359}; KM=191 uM for gabapentin (in T24 human bladder carcinoma cells) {ECO 0000269|PubMed 10574970, ECO 0000269|PubMed 11564694, ECO 0000269|PubMed 12117417, ECO 0000269|PubMed 12225859, ECO 0000269|PubMed 18262359}; KM=7.3 uM for triiodothyronine (in T24 human bladder carcinoma cells) {ECO 0000269|PubMed 10574970, ECO 0000269|PubMed 11564694, ECO 0000269|PubMed 12117417, ECO 0000269|PubMed 12225859, ECO 0000269|PubMed 18262359}; KM=162 uM for thyroxine (in T24 human bladder carcinoma cells) {ECO 0000269|PubMed 10574970, ECO 0000269|PubMed 11564694, ECO 0000269|PubMed 12117417, ECO 0000269|PubMed 12225859, ECO 0000269|PubMed 18262359}; KM=75.3 uM for melphanan (in T24 human bladder carcinoma cells) {ECO 0000269|PubMed 10574970, ECO 0000269|PubMed 11564694, ECO 0000269|PubMed 12117417, ECO 0000269|PubMed 12225859, ECO 0000269|PubMed 18262359}; KM=156 uM for BCH (in T24 human bladder carcinoma cells) {ECO 0000269|PubMed 10574970, ECO 0000269|PubMed 11564694, ECO 0000269|PubMed 12117417, ECO 0000269|PubMed 12225859, ECO 0000269|PubMed 18262359}; # BioGrid 113801 15 # ChiTaRS SLC7A5 human # DrugBank DB00279 Liothyronine # DrugBank DB00451 Levothyroxine # DrugBank DB00509 Dextrothyroxine # DrugBank DB01042 Melphalan # DrugBank DB01235 Levodopa # Ensembl ENST00000261622 ENSP00000261622; ENSG00000103257 # ExpressionAtlas Q01650 baseline and differential # FUNCTION LAT1_HUMAN Sodium-independent, high-affinity transport of large neutral amino acids such as phenylalanine, tyrosine, leucine, arginine and tryptophan, when associated with SLC3A2/4F2hc. Involved in cellular amino acid uptake. Acts as an amino acid exchanger. Involved in the transport of L-DOPA across the blood- brain barrier, and that of thyroid hormones triiodothyronine (T3) and thyroxine (T4) across the cell membrane in tissues such as placenta. Plays a role in neuronal cell proliferation (neurogenesis) in brain. Involved in the uptake of methylmercury (MeHg) when administered as the L-cysteine or D,L-homocysteine complexes, and hence plays a role in metal ion homeostasis and toxicity. Involved in the cellular activity of small molecular weight nitrosothiols, via the stereoselective transport of L- nitrosocysteine (L-CNSO) across the transmembrane. May play an important role in high-grade gliomas. Mediates blood-to-retina L- leucine transport across the inner blood-retinal barrier which in turn may play a key role in maintaining large neutral amino acids as well as neurotransmitters in the neural retina. Acts as the major transporter of tyrosine in fibroblasts. {ECO 0000269|PubMed 10049700, ECO 0000269|PubMed 10391915, ECO 0000269|PubMed 10574970, ECO 0000269|PubMed 11311135, ECO 0000269|PubMed 11389679, ECO 0000269|PubMed 11557028, ECO 0000269|PubMed 11564694, ECO 0000269|PubMed 11742812, ECO 0000269|PubMed 12117417, ECO 0000269|PubMed 12225859, ECO 0000269|PubMed 15769744, ECO 0000269|PubMed 16496379, ECO 0000269|PubMed 18262359, ECO 0000269|PubMed 9751058}. # GO_component GO:0005737 cytoplasm; IDA:HPA. # GO_component GO:0005829 cytosol; IEA:UniProtKB-SubCell. # GO_component GO:0005886 plasma membrane; IDA:HPA. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0016324 apical plasma membrane; IEA:UniProtKB-SubCell. # GO_component GO:0043231 intracellular membrane-bounded organelle; IDA:HPA. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0015171 amino acid transmembrane transporter activity; ISS:UniProtKB. # GO_function GO:0015175 neutral amino acid transmembrane transporter activity; TAS:ProtInc. # GO_function GO:0015179 L-amino acid transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015297 antiporter activity; IBA:GO_Central. # GO_function GO:0042605 peptide antigen binding; ISS:UniProtKB. # GO_process GO:0006520 cellular amino acid metabolic process; TAS:ProtInc. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0006865 amino acid transport; TAS:Reactome. # GO_process GO:0007399 nervous system development; IEA:UniProtKB-KW. # GO_process GO:0015804 neutral amino acid transport; ISS:UniProtKB. # GO_process GO:0030154 cell differentiation; IEA:UniProtKB-KW. # GO_process GO:0050900 leukocyte migration; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005829 cytosol # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0002376 immune system process # GOslim_process GO:0006520 cellular amino acid metabolic process # GOslim_process GO:0006810 transport # GOslim_process GO:0030154 cell differentiation # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0048870 cell motility # Genevisible Q01650 HS # HGNC HGNC:11063 SLC7A5 # INDUCTION LAT1_HUMAN Expression induced in quiescent peripheral blood lymphocytes after treatment with phorbol myristate acetate (PMA) and phytohemagglutinin (PHA). Expression and the uptake of leucine is stimulated in mononuclear, cytotrophoblast-like choriocarcinoma cells by combined treatment with PMA and calcium ionophore. {ECO 0000269|PubMed 11742812, ECO 0000269|PubMed 1597461}. # IntAct Q01650 19 # InterPro IPR002293 AA/rel_permease1 # InterPro IPR004760 L_AA_transporter # KEGG_Brite ko02001 Solute carrier family # MIM 600182 gene # MISCELLANEOUS LAT1_HUMAN The uptake of leucine, tyrosine and tryptophan is inhibited by the different iodothyronines, in particular T3. Leucine transport is also inhibited by small zwitterionic amino acids (i.e. glycine, alanine, serine, threonine and cysteine) and by glutamine and asparginine. The uptake of T3 is almost completely blocked by coincubation with leucine, tryptophan, tyrosine, and phenylalanine, or 2-amino-bicyclo-(2,2,1)-heptane-2- carboxylate (BCH). Methionine uptake was inhibited by the L-system substrates L-leucine, BCH, L-cysteine and by the MeHg-L-cysteine complex and structurally related S-ethyl-L-cysteine. MeHg-L- cysteine uptake is inhibited by L-methionine, L-leucine, BCH and S-ethyl-L-cysteine. L-leucine uptake was inhibited by L-CNSO. Tyrosine uptake in fibroblasts was inhibited by D-methionine, and methyl-aminoisobutyric acid (MeAIB). # Organism LAT1_HUMAN Homo sapiens (Human) # PANTHER PTHR11785 PTHR11785 # PIR JG0165 JG0165 # PIRSF PIRSF006060 AA_transporter # Pfam PF13520 AA_permease_2 # Proteomes UP000005640 Chromosome 16 # Reactome R-HSA-210991 Basigin interactions # Reactome R-HSA-352230 Amino acid transport across the plasma membrane # RecName LAT1_HUMAN Large neutral amino acids transporter small subunit 1 # RefSeq NP_003477 NM_003486.6 # SIMILARITY Belongs to the amino acid-polyamine-organocation (APC) superfamily. L-type amino acid transporter (LAT) (TC 2.A.3.8) family. {ECO 0000305}. # SUBCELLULAR LOCATION LAT1_HUMAN Cytoplasm, cytosol. Apical cell membrane; Multi-pass membrane protein. Note=Located to the plasma membrane by SLC3A2/4F2hc. Localized to the apical membrane of placental syncytiophoblastic cells. Expressed in both luminal and abluminal membranes of brain capillary endothelial cells (By similarity). {ECO 0000250}. # SUBUNIT LAT1_HUMAN Disulfide-linked heterodimer with the amino acid transport protein SLC3A2/4F2hc. {ECO 0000269|PubMed 10049700, ECO 0000269|PubMed 11311135, ECO 0000269|PubMed 11389679, ECO 0000269|PubMed 11557028, ECO 0000269|PubMed 11564694, ECO 0000269|PubMed 12225859, ECO 0000269|PubMed 15769744, ECO 0000269|PubMed 9751058}. # TCDB 2.A.3.8.25 the amino acid-polyamine-organocation (apc) family # TIGRFAMs TIGR00911 2A0308 # TISSUE SPECIFICITY LAT1_HUMAN Expressed abundantly in adult lung, liver, brain, skeletal muscle, placenta, bone marrow, testis, resting lymphocytes and monocytes, and in fetal liver. Weaker expression in thymus, cornea, retina, peripheral leukocytes, spleen, kidney, colon and lymph node. During gestation, expression in the placenta was significantly stronger at full-term than at the mid-trimester stage. Also expressed in all human tumor cell lines tested and in the astrocytic process of primary astrocytic gliomas. Expressed in retinal endothelial cells and in the intestinal epithelial cell line Caco-2. {ECO 0000269|PubMed 10049700, ECO 0000269|PubMed 10072483, ECO 0000269|PubMed 11389679, ECO 0000269|PubMed 11557028, ECO 0000269|PubMed 11742812, ECO 0000269|PubMed 12824232, ECO 0000269|PubMed 1597461, ECO 0000269|PubMed 16027961, ECO 0000269|PubMed 16496379}. # UCSC uc002fkm human # eggNOG COG0531 LUCA # eggNOG KOG1287 Eukaryota BLAST swissprot:LAT1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:LAT1_HUMAN BioCyc MetaCyc:ENSG00000103257-MONOMER http://biocyc.org/getid?id=MetaCyc:ENSG00000103257-MONOMER BioCyc ZFISH:ENSG00000103257-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000103257-MONOMER COXPRESdb 8140 http://coxpresdb.jp/data/gene/8140.shtml CleanEx HS_SLC7A5 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC7A5 DOI 10.1002/ijc.21866 http://dx.doi.org/10.1002/ijc.21866 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1006/bbrc.1999.0206 http://dx.doi.org/10.1006/bbrc.1999.0206 DOI 10.1007/s00726-005-0221-x http://dx.doi.org/10.1007/s00726-005-0221-x DOI 10.1016/S0005-2736(01)00384-4 http://dx.doi.org/10.1016/S0005-2736(01)00384-4 DOI 10.1016/S0005-2736(02)00516-3 http://dx.doi.org/10.1016/S0005-2736(02)00516-3 DOI 10.1016/j.molcel.2008.07.007 http://dx.doi.org/10.1016/j.molcel.2008.07.007 DOI 10.1016/j.neulet.2008.01.028 http://dx.doi.org/10.1016/j.neulet.2008.01.028 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/26246 http://dx.doi.org/10.1038/26246 DOI 10.1042/0264-6021:3560719 http://dx.doi.org/10.1042/0264-6021:3560719 DOI 10.1042/BJ20020841 http://dx.doi.org/10.1042/BJ20020841 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1074/jbc.274.28.19738 http://dx.doi.org/10.1074/jbc.274.28.19738 DOI 10.1074/jbc.274.49.34948 http://dx.doi.org/10.1074/jbc.274.49.34948 DOI 10.1074/jbc.M413164200 http://dx.doi.org/10.1074/jbc.M413164200 DOI 10.1074/mcp.M800588-MCP200 http://dx.doi.org/10.1074/mcp.M800588-MCP200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 DOI 10.1126/scisignal.2001570 http://dx.doi.org/10.1126/scisignal.2001570 DOI 10.1167/iovs.02-0907 http://dx.doi.org/10.1167/iovs.02-0907 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DOI 10.1210/en.142.10.4339 http://dx.doi.org/10.1210/en.142.10.4339 DrugBank DB00279 http://www.drugbank.ca/drugs/DB00279 DrugBank DB00451 http://www.drugbank.ca/drugs/DB00451 DrugBank DB00509 http://www.drugbank.ca/drugs/DB00509 DrugBank DB01042 http://www.drugbank.ca/drugs/DB01042 DrugBank DB01235 http://www.drugbank.ca/drugs/DB01235 EMBL AB017908 http://www.ebi.ac.uk/ena/data/view/AB017908 EMBL AB018009 http://www.ebi.ac.uk/ena/data/view/AB018009 EMBL AB018542 http://www.ebi.ac.uk/ena/data/view/AB018542 EMBL AF077866 http://www.ebi.ac.uk/ena/data/view/AF077866 EMBL AF104032 http://www.ebi.ac.uk/ena/data/view/AF104032 EMBL BC039692 http://www.ebi.ac.uk/ena/data/view/BC039692 EMBL BC042600 http://www.ebi.ac.uk/ena/data/view/BC042600 EMBL M80244 http://www.ebi.ac.uk/ena/data/view/M80244 Ensembl ENST00000261622 http://www.ensembl.org/id/ENST00000261622 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:0043231 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043231 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0015171 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015171 GO_function GO:0015175 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015175 GO_function GO:0015179 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015179 GO_function GO:0015297 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015297 GO_function GO:0042605 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042605 GO_process GO:0006520 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006520 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0006865 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006865 GO_process GO:0007399 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007399 GO_process GO:0015804 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015804 GO_process GO:0030154 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030154 GO_process GO:0050900 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050900 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0002376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002376 GOslim_process GO:0006520 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006520 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0030154 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030154 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0048870 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048870 GeneCards SLC7A5 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC7A5 GeneID 8140 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=8140 GeneTree ENSGT00760000119037 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119037 HGNC HGNC:11063 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11063 HOGENOM HOG000098892 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000098892&db=HOGENOM6 HOVERGEN HBG000476 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG000476&db=HOVERGEN HPA HPA052673 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA052673 HPA HPA056077 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA056077 InParanoid Q01650 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q01650 IntAct Q01650 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q01650* InterPro IPR002293 http://www.ebi.ac.uk/interpro/entry/IPR002293 InterPro IPR004760 http://www.ebi.ac.uk/interpro/entry/IPR004760 Jabion 8140 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=8140 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:8140 http://www.genome.jp/dbget-bin/www_bget?hsa:8140 KEGG_Orthology KO:K13780 http://www.genome.jp/dbget-bin/www_bget?KO:K13780 MIM 600182 http://www.ncbi.nlm.nih.gov/omim/600182 MINT MINT-5000558 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-5000558 OMA MIWLRHR http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=MIWLRHR OrthoDB EOG091G07EM http://cegg.unige.ch/orthodb/results?searchtext=EOG091G07EM PANTHER PTHR11785 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11785 PSORT swissprot:LAT1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:LAT1_HUMAN PSORT-B swissprot:LAT1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:LAT1_HUMAN PSORT2 swissprot:LAT1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:LAT1_HUMAN Pfam PF13520 http://pfam.xfam.org/family/PF13520 PharmGKB PA35923 http://www.pharmgkb.org/do/serve?objId=PA35923&objCls=Gene Phobius swissprot:LAT1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:LAT1_HUMAN PhylomeDB Q01650 http://phylomedb.org/?seqid=Q01650 ProteinModelPortal Q01650 http://www.proteinmodelportal.org/query/uniprot/Q01650 PubMed 10049700 http://www.ncbi.nlm.nih.gov/pubmed/10049700 PubMed 10072483 http://www.ncbi.nlm.nih.gov/pubmed/10072483 PubMed 10391915 http://www.ncbi.nlm.nih.gov/pubmed/10391915 PubMed 10574970 http://www.ncbi.nlm.nih.gov/pubmed/10574970 PubMed 11311135 http://www.ncbi.nlm.nih.gov/pubmed/11311135 PubMed 11389679 http://www.ncbi.nlm.nih.gov/pubmed/11389679 PubMed 11557028 http://www.ncbi.nlm.nih.gov/pubmed/11557028 PubMed 11564694 http://www.ncbi.nlm.nih.gov/pubmed/11564694 PubMed 11742812 http://www.ncbi.nlm.nih.gov/pubmed/11742812 PubMed 12117417 http://www.ncbi.nlm.nih.gov/pubmed/12117417 PubMed 12225859 http://www.ncbi.nlm.nih.gov/pubmed/12225859 PubMed 12824232 http://www.ncbi.nlm.nih.gov/pubmed/12824232 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15769744 http://www.ncbi.nlm.nih.gov/pubmed/15769744 PubMed 1597461 http://www.ncbi.nlm.nih.gov/pubmed/1597461 PubMed 16027961 http://www.ncbi.nlm.nih.gov/pubmed/16027961 PubMed 16496379 http://www.ncbi.nlm.nih.gov/pubmed/16496379 PubMed 18262359 http://www.ncbi.nlm.nih.gov/pubmed/18262359 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 18691976 http://www.ncbi.nlm.nih.gov/pubmed/18691976 PubMed 19369195 http://www.ncbi.nlm.nih.gov/pubmed/19369195 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 21406692 http://www.ncbi.nlm.nih.gov/pubmed/21406692 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 9751058 http://www.ncbi.nlm.nih.gov/pubmed/9751058 Reactome R-HSA-210991 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-210991 Reactome R-HSA-352230 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-352230 RefSeq NP_003477 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_003477 STRING 9606.ENSP00000261622 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000261622&targetmode=cogs TCDB 2.A.3.8.25 http://www.tcdb.org/search/result.php?tc=2.A.3.8.25 TIGRFAMs TIGR00911 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00911 UCSC uc002fkm http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002fkm&org=rat UniGene Hs.513797 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.513797 UniProtKB LAT1_HUMAN http://www.uniprot.org/uniprot/LAT1_HUMAN UniProtKB-AC Q01650 http://www.uniprot.org/uniprot/Q01650 charge swissprot:LAT1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:LAT1_HUMAN eggNOG COG0531 http://eggnogapi.embl.de/nog_data/html/tree/COG0531 eggNOG KOG1287 http://eggnogapi.embl.de/nog_data/html/tree/KOG1287 epestfind swissprot:LAT1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:LAT1_HUMAN garnier swissprot:LAT1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:LAT1_HUMAN helixturnhelix swissprot:LAT1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:LAT1_HUMAN hmoment swissprot:LAT1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:LAT1_HUMAN iep swissprot:LAT1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:LAT1_HUMAN inforesidue swissprot:LAT1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:LAT1_HUMAN neXtProt NX_Q01650 http://www.nextprot.org/db/entry/NX_Q01650 octanol swissprot:LAT1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:LAT1_HUMAN pepcoil swissprot:LAT1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:LAT1_HUMAN pepdigest swissprot:LAT1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:LAT1_HUMAN pepinfo swissprot:LAT1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:LAT1_HUMAN pepnet swissprot:LAT1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:LAT1_HUMAN pepstats swissprot:LAT1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:LAT1_HUMAN pepwheel swissprot:LAT1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:LAT1_HUMAN pepwindow swissprot:LAT1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:LAT1_HUMAN sigcleave swissprot:LAT1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:LAT1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS SC5AC_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q1EHB4-1; Sequence=Displayed; Name=2; IsoId=Q1EHB4-2; Sequence=VSP_033994, VSP_033995; Note=No experimental confirmation available.; # AltName SC5AC_HUMAN Electroneutral sodium monocarboxylate cotransporter # AltName SC5AC_HUMAN Low-affinity sodium-lactate cotransporter # AltName SC5AC_HUMAN Solute carrier family 5 member 12 # CCDS CCDS7860 -. [Q1EHB4-1] # ENZYME REGULATION SC5AC_HUMAN Cotransport of monocarboxylates and nicotinate strongly inhibited by ibuprofen, fenoprofen and ketoprofen. # Ensembl ENST00000280467 ENSP00000280467; ENSG00000148942. [Q1EHB4-2] # Ensembl ENST00000396005 ENSP00000379326; ENSG00000148942. [Q1EHB4-1] # ExpressionAtlas Q1EHB4 baseline and differential # FUNCTION SC5AC_HUMAN Acts as an electroneutral and low-affinity sodium (Na(+))-dependent sodium-coupled solute transporter. Catalyzes the transport across the plasma membrane of many monocarboxylates such as lactate, pyruvate, nicotinate, propionate, butyrate and beta-D- hydroxybutyrate. May be responsible for the first step of reabsorption of monocarboxylates from the lumen of the proximal tubule of the kidney and the small intestine. May play also a role in monocarboxylates transport in the retina (By similarity). Mediates electroneutral uptake of lactate, with a stoichiometry of 2 Na(+) for each lactate (By similarity). {ECO 0000250, ECO 0000269|PubMed 17692818}. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0016324 apical plasma membrane; IEA:UniProtKB-SubCell. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0015129 lactate transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015293 symporter activity; IBA:GO_Central. # GO_function GO:0015355 secondary active monocarboxylate transmembrane transporter activity; IBA:GO_Central. # GO_process GO:0006814 sodium ion transport; IEA:UniProtKB-KW. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0043226 organelle # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # Genevisible Q1EHB4 HS # HGNC HGNC:28750 SLC5A12 # InterPro IPR001734 Na/solute_symporter # KEGG_Brite ko02001 Solute carrier family # MIM 612455 gene # Organism SC5AC_HUMAN Homo sapiens (Human) # PANTHER PTHR11819 PTHR11819 # PROSITE PS50283 NA_SOLUT_SYMP_3 # Pfam PF00474 SSF # Proteomes UP000005640 Chromosome 11 # Reactome R-HSA-427601 Multifunctional anion exchangers # RecName SC5AC_HUMAN Sodium-coupled monocarboxylate transporter 2 # RefSeq NP_848593 NM_178498.3. [Q1EHB4-1] # SIMILARITY Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family. {ECO 0000305}. # SUBCELLULAR LOCATION SC5AC_HUMAN Apical cell membrane {ECO 0000269|PubMed 17692818}; Multi-pass membrane protein {ECO 0000269|PubMed 17692818}. Note=Detected at the brush border membrane of the kidney. Colocalizes with viementin in Mueller cells (By similarity). {ECO 0000250}. # TCDB 2.A.21.5:the solute sodium symporter (sss) family # TIGRFAMs TIGR00813 sss # UCSC uc001mra human. [Q1EHB4-1] # eggNOG COG0591 LUCA # eggNOG KOG2349 Eukaryota BLAST swissprot:SC5AC_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SC5AC_HUMAN BioCyc ZFISH:ENSG00000148942-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000148942-MONOMER COXPRESdb 159963 http://coxpresdb.jp/data/gene/159963.shtml CleanEx HS_SLC5A12 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC5A12 DOI 10.1016/j.bbamem.2007.06.031 http://dx.doi.org/10.1016/j.bbamem.2007.06.031 DOI 10.1038/nature04632 http://dx.doi.org/10.1038/nature04632 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AC083755 http://www.ebi.ac.uk/ena/data/view/AC083755 EMBL AY299482 http://www.ebi.ac.uk/ena/data/view/AY299482 EMBL BC049207 http://www.ebi.ac.uk/ena/data/view/BC049207 Ensembl ENST00000280467 http://www.ensembl.org/id/ENST00000280467 Ensembl ENST00000396005 http://www.ensembl.org/id/ENST00000396005 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0015129 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015129 GO_function GO:0015293 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015293 GO_function GO:0015355 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015355 GO_process GO:0006814 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006814 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GeneCards SLC5A12 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC5A12 GeneID 159963 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=159963 GeneTree ENSGT00760000118955 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118955 H-InvDB HIX0026178 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0026178 HGNC HGNC:28750 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:28750 HOGENOM HOG000261662 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000261662&db=HOGENOM6 HOVERGEN HBG057280 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG057280&db=HOVERGEN HPA HPA060904 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA060904 InParanoid Q1EHB4 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q1EHB4 InterPro IPR001734 http://www.ebi.ac.uk/interpro/entry/IPR001734 Jabion 159963 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=159963 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:159963 http://www.genome.jp/dbget-bin/www_bget?hsa:159963 KEGG_Orthology KO:K14388 http://www.genome.jp/dbget-bin/www_bget?KO:K14388 MIM 612455 http://www.ncbi.nlm.nih.gov/omim/612455 MINT MINT-4723095 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-4723095 OMA AIADTWY http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=AIADTWY OrthoDB EOG091G07OC http://cegg.unige.ch/orthodb/results?searchtext=EOG091G07OC PANTHER PTHR11819 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11819 PROSITE PS50283 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50283 PSORT swissprot:SC5AC_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SC5AC_HUMAN PSORT-B swissprot:SC5AC_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SC5AC_HUMAN PSORT2 swissprot:SC5AC_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SC5AC_HUMAN Pfam PF00474 http://pfam.xfam.org/family/PF00474 PharmGKB PA134873929 http://www.pharmgkb.org/do/serve?objId=PA134873929&objCls=Gene Phobius swissprot:SC5AC_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SC5AC_HUMAN PhylomeDB Q1EHB4 http://phylomedb.org/?seqid=Q1EHB4 ProteinModelPortal Q1EHB4 http://www.proteinmodelportal.org/query/uniprot/Q1EHB4 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16554811 http://www.ncbi.nlm.nih.gov/pubmed/16554811 PubMed 17692818 http://www.ncbi.nlm.nih.gov/pubmed/17692818 Reactome R-HSA-427601 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-427601 RefSeq NP_848593 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_848593 STRING 9606.ENSP00000379326 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000379326&targetmode=cogs TCDB 2.A.21.5 http://www.tcdb.org/search/result.php?tc=2.A.21.5 TIGRFAMs TIGR00813 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00813 UCSC uc001mra http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001mra&org=rat UniGene Hs.148907 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.148907 UniProtKB SC5AC_HUMAN http://www.uniprot.org/uniprot/SC5AC_HUMAN UniProtKB-AC Q1EHB4 http://www.uniprot.org/uniprot/Q1EHB4 charge swissprot:SC5AC_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SC5AC_HUMAN eggNOG COG0591 http://eggnogapi.embl.de/nog_data/html/tree/COG0591 eggNOG KOG2349 http://eggnogapi.embl.de/nog_data/html/tree/KOG2349 epestfind swissprot:SC5AC_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SC5AC_HUMAN garnier swissprot:SC5AC_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SC5AC_HUMAN helixturnhelix swissprot:SC5AC_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SC5AC_HUMAN hmoment swissprot:SC5AC_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SC5AC_HUMAN iep swissprot:SC5AC_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SC5AC_HUMAN inforesidue swissprot:SC5AC_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SC5AC_HUMAN neXtProt NX_Q1EHB4 http://www.nextprot.org/db/entry/NX_Q1EHB4 octanol swissprot:SC5AC_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SC5AC_HUMAN pepcoil swissprot:SC5AC_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SC5AC_HUMAN pepdigest swissprot:SC5AC_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SC5AC_HUMAN pepinfo swissprot:SC5AC_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SC5AC_HUMAN pepnet swissprot:SC5AC_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SC5AC_HUMAN pepstats swissprot:SC5AC_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SC5AC_HUMAN pepwheel swissprot:SC5AC_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SC5AC_HUMAN pepwindow swissprot:SC5AC_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SC5AC_HUMAN sigcleave swissprot:SC5AC_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SC5AC_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS GRID2_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O43424-1; Sequence=Displayed; Name=2; IsoId=O43424-2; Sequence=VSP_054704; # BioGrid 109152 7 # CCDS CCDS3637 -. [O43424-1] # CCDS CCDS68758 -. [O43424-2] # ChiTaRS GRID2 human # DISEASE GRID2_HUMAN Spinocerebellar ataxia, autosomal recessive, 18 (SCAR18) [MIM 616204] Spinocerebellar ataxia defines a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR18 features include progressive cerebellar atrophy, delayed psychomotor development, severely impaired gait, ocular movement abnormalities, and intellectual disability. {ECO 0000269|PubMed 23611888, ECO 0000269|PubMed 24078737, ECO 0000269|PubMed 25841024}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DOMAIN GRID2_HUMAN The PDZ-binding motif mediates interaction with GOPC. {ECO 0000250}. # Ensembl ENST00000282020 ENSP00000282020; ENSG00000152208. [O43424-1] # Ensembl ENST00000510992 ENSP00000421257; ENSG00000152208. [O43424-2] # ExpressionAtlas O43424 baseline and differential # FUNCTION GRID2_HUMAN Receptor for glutamate. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. The postsynaptic actions of Glu are mediated by a variety of receptors that are named according to their selective agonists. # GO_component GO:0005886 plasma membrane; ISS:BHF-UCL. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0008328 ionotropic glutamate receptor complex; ISS:BHF-UCL. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0043197 dendritic spine; ISS:BHF-UCL. # GO_component GO:0045202 synapse; ISS:BHF-UCL. # GO_component GO:0045211 postsynaptic membrane; IEA:UniProtKB-SubCell. # GO_function GO:0004970 ionotropic glutamate receptor activity; IEA:InterPro. # GO_function GO:0005234 extracellular-glutamate-gated ion channel activity; IEA:InterPro. # GO_function GO:0008066 glutamate receptor activity; TAS:ProtInc. # GO_function GO:0030165 PDZ domain binding; ISS:BHF-UCL. # GO_function GO:0097110 scaffold protein binding; ISS:BHF-UCL. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0007157 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules; ISS:BHF-UCL. # GO_process GO:0007215 glutamate receptor signaling pathway; TAS:ProtInc. # GO_process GO:0010975 regulation of neuron projection development; IEA:Ensembl. # GO_process GO:0021707 cerebellar granule cell differentiation; ISS:BHF-UCL. # GO_process GO:0034613 cellular protein localization; ISS:BHF-UCL. # GO_process GO:0035249 synaptic transmission, glutamatergic; ISS:BHF-UCL. # GO_process GO:0043523 regulation of neuron apoptotic process; ISS:BHF-UCL. # GO_process GO:0060079 excitatory postsynaptic potential; ISS:BHF-UCL. # GO_process GO:0060134 prepulse inhibition; ISS:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007155 cell adhesion # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # GOslim_process GO:0030154 cell differentiation # Genevisible O43424 HS # HGNC HGNC:4576 GRID2 # InterPro IPR001320 Iontro_rcpt # InterPro IPR001508 Iono_rcpt_met # InterPro IPR001828 ANF_lig-bd_rcpt # InterPro IPR019594 Glu/Gly-bd # InterPro IPR028082 Peripla_BP_I # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04080 Neuroactive ligand-receptor interaction # KEGG_Pathway ko04730 Long-term depression # MIM 602368 gene # MIM 616204 phenotype # Organism GRID2_HUMAN Homo sapiens (Human) # Orphanet 363432 Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency # PDB 5KC8 X-ray; 1.75 A; A=24-440 # PDB 5KCA X-ray; 3.10 A; A=24-440 # PRINTS PR00177 NMDARECEPTOR # Pfam PF00060 Lig_chan # Pfam PF01094 ANF_receptor # Pfam PF10613 Lig_chan-Glu_bd # Proteomes UP000005640 Chromosome 4 # RecName GRID2_HUMAN Glutamate receptor ionotropic, delta-2 # RefSeq NP_001273767 NM_001286838.1. [O43424-2] # RefSeq NP_001501 NM_001510.3. [O43424-1] # SEQUENCE CAUTION Sequence=BAD92555.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. GRID2 subfamily. {ECO 0000305}. # SMART SM00079 PBPe # SMART SM00918 Lig_chan-Glu_bd # SUBCELLULAR LOCATION GRID2_HUMAN Cell membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. Cell junction, synapse, postsynaptic cell membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. # SUBUNIT Interacts with AIP1, AP4M1, BECN1, GOPC, GRID2IP, SHANK1 and SHANK2. Interacts with EML2 (By similarity). Interacts with CBLN1 and CBLN2, but not with CBLN4. CBLN1-binding is calcium- independent (By similarity). {ECO 0000250}. # SUPFAM SSF53822 SSF53822 # UCSC uc011cdt human. [O43424-1] # eggNOG ENOG410ISR9 Eukaryota # eggNOG ENOG410YYDD LUCA BLAST swissprot:GRID2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:GRID2_HUMAN COXPRESdb 2895 http://coxpresdb.jp/data/gene/2895.shtml CleanEx HS_GRID2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_GRID2 DOI 10.1006/geno.1997.5108 http://dx.doi.org/10.1006/geno.1997.5108 DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1133427 http://dx.doi.org/10.1126/science.1133427 DOI 10.1177/0883073813484967 http://dx.doi.org/10.1177/0883073813484967 DOI 10.1212/WNL.0000000000001524 http://dx.doi.org/10.1212/WNL.0000000000001524 DOI 10.1212/WNL.0b013e3182a841a3 http://dx.doi.org/10.1212/WNL.0b013e3182a841a3 EMBL AB209318 http://www.ebi.ac.uk/ena/data/view/AB209318 EMBL AC020699 http://www.ebi.ac.uk/ena/data/view/AC020699 EMBL AC022317 http://www.ebi.ac.uk/ena/data/view/AC022317 EMBL AC093596 http://www.ebi.ac.uk/ena/data/view/AC093596 EMBL AC093733 http://www.ebi.ac.uk/ena/data/view/AC093733 EMBL AC095059 http://www.ebi.ac.uk/ena/data/view/AC095059 EMBL AC096769 http://www.ebi.ac.uk/ena/data/view/AC096769 EMBL AC104077 http://www.ebi.ac.uk/ena/data/view/AC104077 EMBL AC105315 http://www.ebi.ac.uk/ena/data/view/AC105315 EMBL AC105452 http://www.ebi.ac.uk/ena/data/view/AC105452 EMBL AC108158 http://www.ebi.ac.uk/ena/data/view/AC108158 EMBL AC110800 http://www.ebi.ac.uk/ena/data/view/AC110800 EMBL AC112695 http://www.ebi.ac.uk/ena/data/view/AC112695 EMBL AC115111 http://www.ebi.ac.uk/ena/data/view/AC115111 EMBL AC115537 http://www.ebi.ac.uk/ena/data/view/AC115537 EMBL AF009014 http://www.ebi.ac.uk/ena/data/view/AF009014 EMBL BC099652 http://www.ebi.ac.uk/ena/data/view/BC099652 EMBL BC099653 http://www.ebi.ac.uk/ena/data/view/BC099653 EMBL BC099654 http://www.ebi.ac.uk/ena/data/view/BC099654 Ensembl ENST00000282020 http://www.ensembl.org/id/ENST00000282020 Ensembl ENST00000510992 http://www.ensembl.org/id/ENST00000510992 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0008328 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008328 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0043197 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043197 GO_component GO:0045202 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045202 GO_component GO:0045211 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045211 GO_function GO:0004970 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004970 GO_function GO:0005234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005234 GO_function GO:0008066 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008066 GO_function GO:0030165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030165 GO_function GO:0097110 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097110 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0007157 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007157 GO_process GO:0007215 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007215 GO_process GO:0010975 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010975 GO_process GO:0021707 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021707 GO_process GO:0034613 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034613 GO_process GO:0035249 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035249 GO_process GO:0043523 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043523 GO_process GO:0060079 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060079 GO_process GO:0060134 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060134 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007155 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007155 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0030154 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030154 GeneCards GRID2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=GRID2 GeneID 2895 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=2895 GeneTree ENSGT00760000118920 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118920 H-InvDB HIX0031353 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0031353 HGNC HGNC:4576 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:4576 HOGENOM HOG000264260 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000264260&db=HOGENOM6 HOVERGEN HBG051840 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG051840&db=HOVERGEN HPA HPA056253 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA056253 HPA HPA058538 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA058538 InParanoid O43424 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O43424 InterPro IPR001320 http://www.ebi.ac.uk/interpro/entry/IPR001320 InterPro IPR001508 http://www.ebi.ac.uk/interpro/entry/IPR001508 InterPro IPR001828 http://www.ebi.ac.uk/interpro/entry/IPR001828 InterPro IPR019594 http://www.ebi.ac.uk/interpro/entry/IPR019594 InterPro IPR028082 http://www.ebi.ac.uk/interpro/entry/IPR028082 Jabion 2895 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=2895 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:2895 http://www.genome.jp/dbget-bin/www_bget?hsa:2895 KEGG_Orthology KO:K05207 http://www.genome.jp/dbget-bin/www_bget?KO:K05207 KEGG_Pathway ko04080 http://www.genome.jp/kegg-bin/show_pathway?ko04080 KEGG_Pathway ko04730 http://www.genome.jp/kegg-bin/show_pathway?ko04730 MIM 602368 http://www.ncbi.nlm.nih.gov/omim/602368 MIM 616204 http://www.ncbi.nlm.nih.gov/omim/616204 MINT MINT-257823 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-257823 OMA HGNYAFV http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=HGNYAFV Orphanet 363432 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=363432 OrthoDB EOG091G010L http://cegg.unige.ch/orthodb/results?searchtext=EOG091G010L PDB 5KC8 http://www.ebi.ac.uk/pdbe-srv/view/entry/5KC8 PDB 5KCA http://www.ebi.ac.uk/pdbe-srv/view/entry/5KCA PDBsum 5KC8 http://www.ebi.ac.uk/pdbsum/5KC8 PDBsum 5KCA http://www.ebi.ac.uk/pdbsum/5KCA PRINTS PR00177 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00177 PSORT swissprot:GRID2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:GRID2_HUMAN PSORT-B swissprot:GRID2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:GRID2_HUMAN PSORT2 swissprot:GRID2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:GRID2_HUMAN Pfam PF00060 http://pfam.xfam.org/family/PF00060 Pfam PF01094 http://pfam.xfam.org/family/PF01094 Pfam PF10613 http://pfam.xfam.org/family/PF10613 PharmGKB PA28971 http://www.pharmgkb.org/do/serve?objId=PA28971&objCls=Gene Phobius swissprot:GRID2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:GRID2_HUMAN PhylomeDB O43424 http://phylomedb.org/?seqid=O43424 ProteinModelPortal O43424 http://www.proteinmodelportal.org/query/uniprot/O43424 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 PubMed 16959974 http://www.ncbi.nlm.nih.gov/pubmed/16959974 PubMed 23611888 http://www.ncbi.nlm.nih.gov/pubmed/23611888 PubMed 24078737 http://www.ncbi.nlm.nih.gov/pubmed/24078737 PubMed 25841024 http://www.ncbi.nlm.nih.gov/pubmed/25841024 PubMed 9465309 http://www.ncbi.nlm.nih.gov/pubmed/9465309 RefSeq NP_001273767 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001273767 RefSeq NP_001501 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001501 SMART SM00079 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00079 SMART SM00918 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00918 SMR O43424 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=O43424 STRING 9606.ENSP00000282020 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000282020&targetmode=cogs SUPFAM SSF53822 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF53822 UCSC uc011cdt http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc011cdt&org=rat UniGene Hs.162727 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.162727 UniGene Hs.480281 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.480281 UniProtKB GRID2_HUMAN http://www.uniprot.org/uniprot/GRID2_HUMAN UniProtKB-AC O43424 http://www.uniprot.org/uniprot/O43424 charge swissprot:GRID2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:GRID2_HUMAN eggNOG ENOG410ISR9 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410ISR9 eggNOG ENOG410YYDD http://eggnogapi.embl.de/nog_data/html/tree/ENOG410YYDD epestfind swissprot:GRID2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:GRID2_HUMAN garnier swissprot:GRID2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:GRID2_HUMAN helixturnhelix swissprot:GRID2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:GRID2_HUMAN hmoment swissprot:GRID2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:GRID2_HUMAN iep swissprot:GRID2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:GRID2_HUMAN inforesidue swissprot:GRID2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:GRID2_HUMAN neXtProt NX_O43424 http://www.nextprot.org/db/entry/NX_O43424 octanol swissprot:GRID2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:GRID2_HUMAN pepcoil swissprot:GRID2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:GRID2_HUMAN pepdigest swissprot:GRID2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:GRID2_HUMAN pepinfo swissprot:GRID2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:GRID2_HUMAN pepnet swissprot:GRID2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:GRID2_HUMAN pepstats swissprot:GRID2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:GRID2_HUMAN pepwheel swissprot:GRID2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:GRID2_HUMAN pepwindow swissprot:GRID2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:GRID2_HUMAN sigcleave swissprot:GRID2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:GRID2_HUMAN ## Database ID URL or Descriptions # AltName ACHA9_HUMAN Nicotinic acetylcholine receptor subunit alpha-9 # BioGrid 120731 73 # ChiTaRS CHRNA9 human # DrugBank DB00184 Nicotine # DrugBank DB00674 Galantamine # DrugBank DB00898 Ethanol # Ensembl ENST00000310169 ENSP00000312663; ENSG00000174343 # FUNCTION ACHA9_HUMAN Ionotropic receptor with a probable role in the modulation of auditory stimuli. Agonist binding induces a conformation change that leads to the opening of an ion-conducting channel across the plasma membrane (PubMed 11752216, PubMed 25282151). The channel is permeable to a range of divalent cations including calcium, the influx of which may activate a potassium current which hyperpolarizes the cell membrane (PubMed 11752216, PubMed 25282151). In the ear, this may lead to a reduction in basilar membrane motion, altering the activity of auditory nerve fibers and reducing the range of dynamic hearing. This may protect against acoustic trauma. May also regulate keratinocyte adhesion (PubMed 11021840). {ECO 0000269|PubMed 11021840, ECO 0000269|PubMed 11752216, ECO 0000269|PubMed 25282151, ECO 0000305}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IDA:UniProtKB. # GO_component GO:0005892 acetylcholine-gated channel complex; IDA:UniProtKB. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0045211 postsynaptic membrane; IEA:UniProtKB-SubCell. # GO_function GO:0004889 acetylcholine-activated cation-selective channel activity; IEA:Ensembl. # GO_function GO:0005262 calcium channel activity; IEA:UniProtKB-KW. # GO_function GO:0015276 ligand-gated ion channel activity; TAS:Reactome. # GO_function GO:0022848 acetylcholine-gated cation channel activity; IDA:UniProtKB. # GO_function GO:0042166 acetylcholine binding; IBA:GO_Central. # GO_process GO:0007204 positive regulation of cytosolic calcium ion concentration; IGI:MGI. # GO_process GO:0007271 synaptic transmission, cholinergic; IBA:GO_Central. # GO_process GO:0042472 inner ear morphogenesis; IEA:Ensembl. # GO_process GO:0050910 detection of mechanical stimulus involved in sensory perception of sound; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0050877 neurological system process # Gene3D 1.20.120.370 -; 2. # Gene3D 2.70.170.10 -; 1. # Genevisible Q9UGM1 HS # HGNC HGNC:14079 CHRNA9 # InterPro IPR002394 Nicotinic_acetylcholine_rcpt # InterPro IPR006029 Neurotrans-gated_channel_TM # InterPro IPR006201 Neur_channel # InterPro IPR006202 Neur_chan_lig-bd # InterPro IPR018000 Neurotransmitter_ion_chnl_CS # InterPro IPR027361 Acetylcholine_rcpt_TM # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04080 Neuroactive ligand-receptor interaction # MIM 605116 gene # MISCELLANEOUS The hetero-oligomeric receptor composed of CHRNA9 and CHRNA10 has an atypical pharmacological profile, binding several non-nicotinic ligands including strychnine (a glycine receptor antagonist) and atropine (a muscarinic acetylcholine receptor antagonist). {ECO:0000305|PubMed 11752216}. # Organism ACHA9_HUMAN Homo sapiens (Human) # PANTHER PTHR18945 PTHR18945; 2 # PDB 4D01 X-ray; 1.80 A; A=26-237 # PDB 4UXU X-ray; 1.71 A; A/B=26-237 # PDB 4UY2 X-ray; 2.70 A; A/B=26-237 # PRINTS PR00252 NRIONCHANNEL # PRINTS PR00254 NICOTINICR # PROSITE PS00236 NEUROTR_ION_CHANNEL # PTM ACHA9_HUMAN N-glycosylated. {ECO 0000269|PubMed 25282151}. # Pfam PF02931 Neur_chan_LBD # Pfam PF02932 Neur_chan_memb # Proteomes UP000005640 Chromosome 4 # Reactome R-HSA-629594 Highly calcium permeable postsynaptic nicotinic acetylcholine receptors # RecName ACHA9_HUMAN Neuronal acetylcholine receptor subunit alpha-9 # RefSeq NP_060051 NM_017581.3 # SIMILARITY Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Alpha- 9/CHRNA9 sub-subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION ACHA9_HUMAN Cell junction, synapse, postsynaptic cell membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. Cell membrane {ECO 0000269|PubMed 25282151}; Multi-pass membrane protein {ECO 0000305|PubMed 25282151}. # SUBUNIT Can form homo- or hetero-oligomeric channels in conjunction with CHRNA10 (PubMed:11752216). The native outer hair cell receptor may be composed of CHRNA9-CHRNA10 hetero-oligomers. {ECO 0000269|PubMed:11752216}. # SUPFAM SSF63712 SSF63712 # SUPFAM SSF90112 SSF90112 # TIGRFAMs TIGR00860 LIC # TISSUE SPECIFICITY ACHA9_HUMAN Expressed in cochlea, keratinocytes, pituitary gland, B-cells and T-cells. {ECO 0000269|PubMed 11021840, ECO 0000269|PubMed 11752216, ECO 0000269|PubMed 15531379}. # UCSC uc003gva human # eggNOG ENOG410XQGR LUCA # eggNOG KOG3645 Eukaryota BLAST swissprot:ACHA9_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ACHA9_HUMAN BioCyc ZFISH:ENSG00000174343-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000174343-MONOMER COXPRESdb 55584 http://coxpresdb.jp/data/gene/55584.shtml CleanEx HS_CHRNA9 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CHRNA9 DIP DIP-61053N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-61053N DOI 10.1016/S0002-9440(10)64651-2 http://dx.doi.org/10.1016/S0002-9440(10)64651-2 DOI 10.1016/j.lfs.2004.05.031 http://dx.doi.org/10.1016/j.lfs.2004.05.031 DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1038/nsmb.2900 http://dx.doi.org/10.1038/nsmb.2900 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1124/mol.61.1.150 http://dx.doi.org/10.1124/mol.61.1.150 DOI 10.1159/000069804 http://dx.doi.org/10.1159/000069804 DrugBank DB00184 http://www.drugbank.ca/drugs/DB00184 DrugBank DB00674 http://www.drugbank.ca/drugs/DB00674 DrugBank DB00898 http://www.drugbank.ca/drugs/DB00898 EMBL AC118275 http://www.ebi.ac.uk/ena/data/view/AC118275 EMBL AF227732 http://www.ebi.ac.uk/ena/data/view/AF227732 EMBL AJ243342 http://www.ebi.ac.uk/ena/data/view/AJ243342 EMBL AY123244 http://www.ebi.ac.uk/ena/data/view/AY123244 EMBL BC113549 http://www.ebi.ac.uk/ena/data/view/BC113549 EMBL BC113575 http://www.ebi.ac.uk/ena/data/view/BC113575 Ensembl ENST00000310169 http://www.ensembl.org/id/ENST00000310169 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0005892 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005892 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0045211 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045211 GO_function GO:0004889 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004889 GO_function GO:0005262 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005262 GO_function GO:0015276 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015276 GO_function GO:0022848 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022848 GO_function GO:0042166 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042166 GO_process GO:0007204 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007204 GO_process GO:0007271 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007271 GO_process GO:0042472 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042472 GO_process GO:0050910 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050910 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 Gene3D 1.20.120.370 http://www.cathdb.info/version/latest/superfamily/1.20.120.370 Gene3D 2.70.170.10 http://www.cathdb.info/version/latest/superfamily/2.70.170.10 GeneCards CHRNA9 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CHRNA9 GeneID 55584 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=55584 GeneTree ENSGT00790000122957 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00790000122957 H-InvDB HIX0031380 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0031380 HGNC HGNC:14079 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:14079 HOGENOM HOG000006756 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000006756&db=HOGENOM6 HOVERGEN HBG003756 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG003756&db=HOVERGEN InParanoid Q9UGM1 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9UGM1 InterPro IPR002394 http://www.ebi.ac.uk/interpro/entry/IPR002394 InterPro IPR006029 http://www.ebi.ac.uk/interpro/entry/IPR006029 InterPro IPR006201 http://www.ebi.ac.uk/interpro/entry/IPR006201 InterPro IPR006202 http://www.ebi.ac.uk/interpro/entry/IPR006202 InterPro IPR018000 http://www.ebi.ac.uk/interpro/entry/IPR018000 InterPro IPR027361 http://www.ebi.ac.uk/interpro/entry/IPR027361 Jabion 55584 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=55584 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:55584 http://www.genome.jp/dbget-bin/www_bget?hsa:55584 KEGG_Orthology KO:K04810 http://www.genome.jp/dbget-bin/www_bget?KO:K04810 KEGG_Pathway ko04080 http://www.genome.jp/kegg-bin/show_pathway?ko04080 MIM 605116 http://www.ncbi.nlm.nih.gov/omim/605116 OMA MGMDSGD http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=MGMDSGD OrthoDB EOG091G0R20 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0R20 PANTHER PTHR18945 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR18945 PDB 4D01 http://www.ebi.ac.uk/pdbe-srv/view/entry/4D01 PDB 4UXU http://www.ebi.ac.uk/pdbe-srv/view/entry/4UXU PDB 4UY2 http://www.ebi.ac.uk/pdbe-srv/view/entry/4UY2 PDBsum 4D01 http://www.ebi.ac.uk/pdbsum/4D01 PDBsum 4UXU http://www.ebi.ac.uk/pdbsum/4UXU PDBsum 4UY2 http://www.ebi.ac.uk/pdbsum/4UY2 PRINTS PR00252 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00252 PRINTS PR00254 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00254 PROSITE PS00236 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00236 PSORT swissprot:ACHA9_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ACHA9_HUMAN PSORT-B swissprot:ACHA9_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ACHA9_HUMAN PSORT2 swissprot:ACHA9_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ACHA9_HUMAN Pfam PF02931 http://pfam.xfam.org/family/PF02931 Pfam PF02932 http://pfam.xfam.org/family/PF02932 PharmGKB PA26493 http://www.pharmgkb.org/do/serve?objId=PA26493&objCls=Gene Phobius swissprot:ACHA9_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ACHA9_HUMAN PhylomeDB Q9UGM1 http://phylomedb.org/?seqid=Q9UGM1 ProteinModelPortal Q9UGM1 http://www.proteinmodelportal.org/query/uniprot/Q9UGM1 PubMed 11021840 http://www.ncbi.nlm.nih.gov/pubmed/11021840 PubMed 11752216 http://www.ncbi.nlm.nih.gov/pubmed/11752216 PubMed 12697997 http://www.ncbi.nlm.nih.gov/pubmed/12697997 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15531379 http://www.ncbi.nlm.nih.gov/pubmed/15531379 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 PubMed 25282151 http://www.ncbi.nlm.nih.gov/pubmed/25282151 Reactome R-HSA-629594 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-629594 RefSeq NP_060051 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_060051 SMR Q9UGM1 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9UGM1 STRING 9606.ENSP00000312663 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000312663&targetmode=cogs SUPFAM SSF63712 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF63712 SUPFAM SSF90112 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF90112 TIGRFAMs TIGR00860 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00860 UCSC uc003gva http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003gva&org=rat UniGene Hs.272278 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.272278 UniProtKB ACHA9_HUMAN http://www.uniprot.org/uniprot/ACHA9_HUMAN UniProtKB-AC Q9UGM1 http://www.uniprot.org/uniprot/Q9UGM1 charge swissprot:ACHA9_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ACHA9_HUMAN eggNOG ENOG410XQGR http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XQGR eggNOG KOG3645 http://eggnogapi.embl.de/nog_data/html/tree/KOG3645 epestfind swissprot:ACHA9_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ACHA9_HUMAN garnier swissprot:ACHA9_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ACHA9_HUMAN helixturnhelix swissprot:ACHA9_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ACHA9_HUMAN hmoment swissprot:ACHA9_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ACHA9_HUMAN iep swissprot:ACHA9_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ACHA9_HUMAN inforesidue swissprot:ACHA9_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ACHA9_HUMAN neXtProt NX_Q9UGM1 http://www.nextprot.org/db/entry/NX_Q9UGM1 octanol swissprot:ACHA9_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ACHA9_HUMAN pepcoil swissprot:ACHA9_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ACHA9_HUMAN pepdigest swissprot:ACHA9_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ACHA9_HUMAN pepinfo swissprot:ACHA9_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ACHA9_HUMAN pepnet swissprot:ACHA9_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ACHA9_HUMAN pepstats swissprot:ACHA9_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ACHA9_HUMAN pepwheel swissprot:ACHA9_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ACHA9_HUMAN pepwindow swissprot:ACHA9_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ACHA9_HUMAN sigcleave swissprot:ACHA9_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ACHA9_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS AP4S1_HUMAN Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q9Y587-1; Sequence=Displayed; Name=2; IsoId=Q9Y587-2; Sequence=VSP_040023; Name=3; IsoId=Q9Y587-3; Sequence=VSP_046364; Note=No experimental confirmation available.; Name=4; IsoId=Q9Y587-4; Sequence=VSP_046941; # AltName AP4S1_HUMAN AP-4 adaptor complex subunit sigma-1 # AltName AP4S1_HUMAN Adaptor-related protein complex 4 subunit sigma-1 # AltName AP4S1_HUMAN Sigma-1 subunit of AP-4 # AltName AP4S1_HUMAN Sigma-4-adaptin # BioGrid 116325 21 # CCDS CCDS45093 -. [Q9Y587-1] # CCDS CCDS58309 -. [Q9Y587-4] # CCDS CCDS58310 -. [Q9Y587-3] # CCDS CCDS9642 -. [Q9Y587-2] # ChiTaRS AP4S1 human # DISEASE AP4S1_HUMAN Spastic paraplegia 52, autosomal recessive (SPG52) [MIM 614067] A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. SPG52 is characterized by neonatal hypotonia that progresses to hypertonia and spasticity, and severe mental retardation with poor or absent speech development. Some patients may have seizures. {ECO 0000269|PubMed 21620353}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000216366 ENSP00000216366; ENSG00000100478. [Q9Y587-2] # Ensembl ENST00000313566 ENSP00000322508; ENSG00000100478. [Q9Y587-4] # Ensembl ENST00000334725 ENSP00000334484; ENSG00000100478. [Q9Y587-4] # Ensembl ENST00000542754 ENSP00000438170; ENSG00000100478. [Q9Y587-1] # Ensembl ENST00000554345 ENSP00000450768; ENSG00000100478. [Q9Y587-3] # Ensembl ENST00000616371 ENSP00000477631; ENSG00000100478. [Q9Y587-1] # Ensembl ENST00000622409 ENSP00000482876; ENSG00000100478. [Q9Y587-1] # ExpressionAtlas Q9Y587 baseline and differential # FUNCTION AP4S1_HUMAN Subunit of novel type of clathrin- or non-clathrin- associated protein coat involved in targeting proteins from the trans-Golgi network (TGN) to the endosomal-lysosomal system. # GO_component GO:0005905 clathrin-coated pit; IEA:UniProtKB-SubCell. # GO_component GO:0031904 endosome lumen; TAS:Reactome. # GO_component GO:0032588 trans-Golgi network membrane; TAS:Reactome. # GO_function GO:0005215 transporter activity; TAS:ProtInc. # GO_function GO:0008565 protein transporter activity; IEA:InterPro. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0008565 protein transporter activity # Genevisible Q9Y587 HS # HGNC HGNC:575 AP4S1 # IntAct Q9Y587 19 # InterPro IPR011012 Longin-like_dom # InterPro IPR016635 AP_complex_ssu # InterPro IPR022775 AP_mu_sigma_su # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Disease H01097 [Nervous system disease] Cerebral palsy # KEGG_Pathway ko04142 Lysosome # MIM 607243 gene # MIM 614067 phenotype # Organism AP4S1_HUMAN Homo sapiens (Human) # Orphanet 280763 Severe intellectual disability and progressive spastic paraplegia # PANTHER PTHR11753 PTHR11753 # PIRSF PIRSF015588 AP_complex_sigma # Pfam PF01217 Clat_adaptor_s # Proteomes UP000005640 Chromosome 14 # Reactome R-HSA-432720 Lysosome Vesicle Biogenesis # RecName AP4S1_HUMAN AP-4 complex subunit sigma-1 # RefSeq NP_001121598 NM_001128126.2. [Q9Y587-1] # RefSeq NP_001241655 NM_001254726.1. [Q9Y587-3] # RefSeq NP_001241656 NM_001254727.1. [Q9Y587-4] # RefSeq NP_001241657 NM_001254728.1. [Q9Y587-1] # RefSeq NP_001241658 NM_001254729.1. [Q9Y587-1] # RefSeq NP_009008 NM_007077.4. [Q9Y587-2] # RefSeq XP_005267350 XM_005267293.4. [Q9Y587-2] # RefSeq XP_011534673 XM_011536371.2. [Q9Y587-2] # RefSeq XP_011534674 XM_011536372.2. [Q9Y587-2] # SIMILARITY Belongs to the adaptor complexes small subunit family. {ECO 0000305}. # SUBCELLULAR LOCATION AP4S1_HUMAN Golgi apparatus, trans-Golgi network. Membrane, coated pit. Note=Associated with the trans-Golgi network. Found in soma and dendritic shafts of neuronal cells. # SUBUNIT AP4S1_HUMAN Adaptor protein complex 4 (AP-4) is a heterotetramer composed of two large adaptins (epsilon-type subunit AP4E1 and beta-type subunitAP4B1), a medium adaptin (mu-type subunit AP4M1) and a small adaptin (sigma-type AP4S1). # SUPFAM SSF64356 SSF64356 # TISSUE SPECIFICITY AP4S1_HUMAN Widely expressed. # UCSC uc001wqw human. [Q9Y587-1] # eggNOG COG5030 LUCA # eggNOG KOG0934 Eukaryota BLAST swissprot:AP4S1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:AP4S1_HUMAN BioCyc ZFISH:ENSG00000100478-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000100478-MONOMER COXPRESdb 11154 http://coxpresdb.jp/data/gene/11154.shtml CleanEx HS_AP4S1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_AP4S1 DOI 10.1016/j.ajhg.2011.04.019 http://dx.doi.org/10.1016/j.ajhg.2011.04.019 DOI 10.1038/nature01348 http://dx.doi.org/10.1038/nature01348 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1091/mbc.10.8.2787 http://dx.doi.org/10.1091/mbc.10.8.2787 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AB030654 http://www.ebi.ac.uk/ena/data/view/AB030654 EMBL AF155159 http://www.ebi.ac.uk/ena/data/view/AF155159 EMBL AK304115 http://www.ebi.ac.uk/ena/data/view/AK304115 EMBL AL049830 http://www.ebi.ac.uk/ena/data/view/AL049830 EMBL AL121808 http://www.ebi.ac.uk/ena/data/view/AL121808 EMBL BC001259 http://www.ebi.ac.uk/ena/data/view/BC001259 EMBL BT006701 http://www.ebi.ac.uk/ena/data/view/BT006701 EMBL BX247969 http://www.ebi.ac.uk/ena/data/view/BX247969 EMBL BX388185 http://www.ebi.ac.uk/ena/data/view/BX388185 EMBL CH471078 http://www.ebi.ac.uk/ena/data/view/CH471078 EMBL CH471078 http://www.ebi.ac.uk/ena/data/view/CH471078 EMBL CH471078 http://www.ebi.ac.uk/ena/data/view/CH471078 EMBL CR457100 http://www.ebi.ac.uk/ena/data/view/CR457100 Ensembl ENST00000216366 http://www.ensembl.org/id/ENST00000216366 Ensembl ENST00000313566 http://www.ensembl.org/id/ENST00000313566 Ensembl ENST00000334725 http://www.ensembl.org/id/ENST00000334725 Ensembl ENST00000542754 http://www.ensembl.org/id/ENST00000542754 Ensembl ENST00000554345 http://www.ensembl.org/id/ENST00000554345 Ensembl ENST00000616371 http://www.ensembl.org/id/ENST00000616371 Ensembl ENST00000622409 http://www.ensembl.org/id/ENST00000622409 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005905 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005905 GO_component GO:0031904 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031904 GO_component GO:0032588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032588 GO_function GO:0005215 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005215 GO_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GeneCards AP4S1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=AP4S1 GeneID 11154 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=11154 GeneTree ENSGT00530000062839 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000062839 HGNC HGNC:575 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:575 HOGENOM HOG000185227 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000185227&db=HOGENOM6 HOVERGEN HBG050517 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050517&db=HOVERGEN HPA HPA039963 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA039963 InParanoid Q9Y587 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9Y587 IntAct Q9Y587 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9Y587* InterPro IPR011012 http://www.ebi.ac.uk/interpro/entry/IPR011012 InterPro IPR016635 http://www.ebi.ac.uk/interpro/entry/IPR016635 InterPro IPR022775 http://www.ebi.ac.uk/interpro/entry/IPR022775 Jabion 11154 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=11154 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Disease H01097 http://www.genome.jp/dbget-bin/www_bget?H01097 KEGG_Gene hsa:11154 http://www.genome.jp/dbget-bin/www_bget?hsa:11154 KEGG_Orthology KO:K12403 http://www.genome.jp/dbget-bin/www_bget?KO:K12403 KEGG_Pathway ko04142 http://www.genome.jp/kegg-bin/show_pathway?ko04142 MIM 607243 http://www.ncbi.nlm.nih.gov/omim/607243 MIM 614067 http://www.ncbi.nlm.nih.gov/omim/614067 OMA KLVYRQY http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=KLVYRQY Orphanet 280763 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=280763 OrthoDB EOG091G0OOD http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0OOD PANTHER PTHR11753 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11753 PSORT swissprot:AP4S1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:AP4S1_HUMAN PSORT-B swissprot:AP4S1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:AP4S1_HUMAN PSORT2 swissprot:AP4S1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:AP4S1_HUMAN Pfam PF01217 http://pfam.xfam.org/family/PF01217 PharmGKB PA24867 http://www.pharmgkb.org/do/serve?objId=PA24867&objCls=Gene Phobius swissprot:AP4S1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:AP4S1_HUMAN PhylomeDB Q9Y587 http://phylomedb.org/?seqid=Q9Y587 ProteinModelPortal Q9Y587 http://www.proteinmodelportal.org/query/uniprot/Q9Y587 PubMed 10436028 http://www.ncbi.nlm.nih.gov/pubmed/10436028 PubMed 12508121 http://www.ncbi.nlm.nih.gov/pubmed/12508121 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 21620353 http://www.ncbi.nlm.nih.gov/pubmed/21620353 Reactome R-HSA-432720 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-432720 RefSeq NP_001121598 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001121598 RefSeq NP_001241655 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001241655 RefSeq NP_001241656 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001241656 RefSeq NP_001241657 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001241657 RefSeq NP_001241658 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001241658 RefSeq NP_009008 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_009008 RefSeq XP_005267350 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005267350 RefSeq XP_011534673 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011534673 RefSeq XP_011534674 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011534674 SMR Q9Y587 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9Y587 STRING 9606.ENSP00000216366 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000216366&targetmode=cogs SUPFAM SSF64356 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF64356 UCSC uc001wqw http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001wqw&org=rat UniGene Hs.293411 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.293411 UniProtKB AP4S1_HUMAN http://www.uniprot.org/uniprot/AP4S1_HUMAN UniProtKB-AC Q9Y587 http://www.uniprot.org/uniprot/Q9Y587 charge swissprot:AP4S1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:AP4S1_HUMAN eggNOG COG5030 http://eggnogapi.embl.de/nog_data/html/tree/COG5030 eggNOG KOG0934 http://eggnogapi.embl.de/nog_data/html/tree/KOG0934 epestfind swissprot:AP4S1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:AP4S1_HUMAN garnier swissprot:AP4S1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:AP4S1_HUMAN helixturnhelix swissprot:AP4S1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:AP4S1_HUMAN hmoment swissprot:AP4S1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:AP4S1_HUMAN iep swissprot:AP4S1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:AP4S1_HUMAN inforesidue swissprot:AP4S1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:AP4S1_HUMAN neXtProt NX_Q9Y587 http://www.nextprot.org/db/entry/NX_Q9Y587 octanol swissprot:AP4S1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:AP4S1_HUMAN pepcoil swissprot:AP4S1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:AP4S1_HUMAN pepdigest swissprot:AP4S1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:AP4S1_HUMAN pepinfo swissprot:AP4S1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:AP4S1_HUMAN pepnet swissprot:AP4S1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:AP4S1_HUMAN pepstats swissprot:AP4S1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:AP4S1_HUMAN pepwheel swissprot:AP4S1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:AP4S1_HUMAN pepwindow swissprot:AP4S1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:AP4S1_HUMAN sigcleave swissprot:AP4S1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:AP4S1_HUMAN ## Database ID URL or Descriptions # BioGrid 125556 35 # DEVELOPMENTAL STAGE Expressed meiotically and post-meiotically. {ECO:0000269|PubMed 16625279}. # DISEASE CTSR1_HUMAN Spermatogenic failure 7 (SPGF7) [MIM 612997] An infertility disorder characterized by non-motile sperm or sperm motility below the normal threshold, low sperm count, increased abnormally structured spermatozoa, and reduced semen volume. {ECO 0000269|PubMed 19344877}. Note=The disease is caused by mutations affecting the gene represented in this entry. # ENZYME REGULATION CTSR1_HUMAN The CatSper calcium channel is indirectly activated by extracellular progesterone and prostaglandins following the sequence progesterone > PGF1-alpha = PGE1 > PGA1 > PGE2 >> PGD2 (PubMed 21412338, PubMed 21412339, PubMed 26989199). The CatSper calcium channel is directly inhibited by endocannabinoid 2-arachidonoylglycerol (2AG) (PubMed 26989199). Indirect activation by progesterone takes place via the following mechanism progesterone binds and activates the acylglycerol lipase ABHD2, which in turn mediates hydrolysis of 2AG inhibitor, relieving inhibition of the CatSper channel (PubMed 26989199). The primary effect of progesterone activation is to shift voltage dependence towards more physiological, negative membrane potentials; it is not mediated by metabotropic receptors and second messengers (PubMed 21412338, PubMed 21412339). Sperm capacitation enhances the effect of progesterone by providing additional negative shift. Also activated by the elevation of intracellular pH (PubMed 21412338, PubMed 21412339). {ECO 0000269|PubMed 21412338, ECO 0000269|PubMed 21412339, ECO 0000269|PubMed 26989199}. # Ensembl ENST00000312106 ENSP00000309052; ENSG00000175294 # FUNCTION CTSR1_HUMAN Voltage-gated calcium channel that plays a central role in calcium-dependent physiological responses essential for successful fertilization, such as sperm hyperactivation, acrosome reaction and chemotaxis towards the oocyte. {ECO 0000269|PubMed 21412338, ECO 0000269|PubMed 21412339}. # GO_component GO:0005886 plasma membrane; IBA:GO_Central. # GO_component GO:0031514 motile cilium; IEA:UniProtKB-KW. # GO_component GO:0036128 CatSper complex; ISS:UniProtKB. # GO_function GO:0005227 calcium activated cation channel activity; IEA:InterPro. # GO_function GO:0005245 voltage-gated calcium channel activity; IBA:GO_Central. # GO_process GO:0007275 multicellular organism development; IEA:UniProtKB-KW. # GO_process GO:0007283 spermatogenesis; IEA:UniProtKB-KW. # GO_process GO:0007342 fusion of sperm to egg plasma membrane; IEA:Ensembl. # GO_process GO:0030154 cell differentiation; IEA:UniProtKB-KW. # GO_process GO:0030317 flagellated sperm motility; IBA:GO_Central. # GO_process GO:0032570 response to progesterone; TAS:Reactome. # GO_process GO:0035036 sperm-egg recognition; TAS:Reactome. # GO_process GO:0051924 regulation of calcium ion transport; IEA:Ensembl. # GO_process GO:0060296 regulation of cilium beat frequency involved in ciliary motility; IEA:Ensembl. # GO_process GO:0086010 membrane depolarization during action potential; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0005929 cilium # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0008150 biological_process # GOslim_process GO:0030154 cell differentiation # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0048870 cell motility # GOslim_process GO:0061024 membrane organization # Gene3D 1.20.120.350 -; 1. # Genevisible Q8NEC5 HS # HGNC HGNC:17116 CATSPER1 # INDUCTION Down-regulated in patients lacking sperm motility. {ECO:0000269|PubMed 14688170}. # INTERACTION CTSR1_HUMAN O95994 AGR2; NbExp=3; IntAct=EBI-744545, EBI-712648; P02652 APOA2; NbExp=5; IntAct=EBI-744545, EBI-1171525; Q9P0X4 CACNA1I; NbExp=5; IntAct=EBI-744545, EBI-1220829; Q9H2X0 CHRD; NbExp=3; IntAct=EBI-744545, EBI-947551; P50402 EMD; NbExp=3; IntAct=EBI-744545, EBI-489887; Q5VWX1 KHDRBS2; NbExp=5; IntAct=EBI-744545, EBI-742808; Q5T749 KPRP; NbExp=4; IntAct=EBI-744545, EBI-10981970; P60412 KRTAP10-11; NbExp=3; IntAct=EBI-744545, EBI-10217483; P60410 KRTAP10-8; NbExp=9; IntAct=EBI-744545, EBI-10171774; P60411 KRTAP10-9; NbExp=7; IntAct=EBI-744545, EBI-10172052; P60328 KRTAP12-3; NbExp=4; IntAct=EBI-744545, EBI-11953334; Q9BYQ6 KRTAP4-11; NbExp=3; IntAct=EBI-744545, EBI-10302392; Q9BQ66 KRTAP4-12; NbExp=8; IntAct=EBI-744545, EBI-739863; Q9BYR0 KRTAP4-7; NbExp=3; IntAct=EBI-744545, EBI-10302547; Q6L8G9 KRTAP5-6; NbExp=3; IntAct=EBI-744545, EBI-10250562; P26371 KRTAP5-9; NbExp=7; IntAct=EBI-744545, EBI-3958099; Q9BYQ4 KRTAP9-2; NbExp=9; IntAct=EBI-744545, EBI-1044640; Q9BYQ3 KRTAP9-3; NbExp=4; IntAct=EBI-744545, EBI-1043191; Q9BYQ2 KRTAP9-4; NbExp=3; IntAct=EBI-744545, EBI-10185730; Q99750 MDFI; NbExp=3; IntAct=EBI-744545, EBI-724076; Q5JR59 MTUS2; NbExp=3; IntAct=EBI-744545, EBI-742948; Q7Z3S9 NOTCH2NL; NbExp=5; IntAct=EBI-744545, EBI-945833; O15162 PLSCR1; NbExp=3; IntAct=EBI-744545, EBI-740019; Q9NRY6 PLSCR3; NbExp=5; IntAct=EBI-744545, EBI-750734; Q8HWS3 RFX6; NbExp=5; IntAct=EBI-744545, EBI-746118; O76081 RGS20; NbExp=4; IntAct=EBI-744545, EBI-1052678; Q9UFD9 RIMBP3; NbExp=3; IntAct=EBI-744545, EBI-10182375; O75711 SCRG1; NbExp=3; IntAct=EBI-744545, EBI-10189029; O43597 SPRY2; NbExp=3; IntAct=EBI-744545, EBI-742487; Q12933 TRAF2; NbExp=3; IntAct=EBI-744545, EBI-355744; Q15654 TRIP6; NbExp=6; IntAct=EBI-744545, EBI-742327; # IntAct Q8NEC5 71 # InterPro IPR005821 Ion_trans_dom # InterPro IPR027359 Channel_four-helix_dom # InterPro IPR028746 CatSper1 # KEGG_Disease H01282 [Developmental disorder] Spermatogenic failure # MIM 606389 gene # MIM 612997 phenotype # Organism CTSR1_HUMAN Homo sapiens (Human) # Orphanet 276234 Non-syndromic male infertility due to sperm motility disorder # PANTHER PTHR10037:SF216 PTHR10037:SF216; 3 # Pfam PF00520 Ion_trans # Proteomes UP000005640 Chromosome 11 # Reactome R-HSA-1300642 Sperm Motility And Taxes # RecName CTSR1_HUMAN Cation channel sperm-associated protein 1 # RefSeq NP_444282 NM_053054.3 # SIMILARITY Belongs to the cation channel sperm-associated (TC 1.A.1.19) family. {ECO 0000305}. # SUBCELLULAR LOCATION CTSR1_HUMAN Cell projection, cilium, flagellum membrane {ECO 0000269|PubMed 16625279}; Multi-pass membrane protein {ECO 0000269|PubMed 16625279}. Note=Specifically located in the principal piece of sperm tail. # SUBUNIT CTSR1_HUMAN Heterotetramer; possibly composed of CATSPER1, CATSPER2, CATSPER3 and CATSPER4 (Potential). Component of the CatSper complex. Interacts with CATSPER3 and CATSPER4 (By similarity). Interacts with Ca(v)3.3/CACNA1I, leading to suppress T-type calcium channel activity. {ECO 0000250, ECO 0000269|PubMed 16740636, ECO 0000305}. # TCDB 1.A.1.19 the voltage-gated ion channel (vic) superfamily # TISSUE SPECIFICITY CTSR1_HUMAN Testis-specific. {ECO 0000269|PubMed 11595941, ECO 0000269|PubMed 16625279, ECO 0000269|PubMed 17347248}. # UCSC uc001ogt human # eggNOG ENOG410XNP6 LUCA # eggNOG KOG2302 Eukaryota BLAST swissprot:CTSR1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CTSR1_HUMAN BioCyc ZFISH:ENSG00000175294-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000175294-MONOMER COXPRESdb 117144 http://coxpresdb.jp/data/gene/117144.shtml CleanEx HS_CATSPER1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CATSPER1 DOI 10.1016/j.ajhg.2009.03.004 http://dx.doi.org/10.1016/j.ajhg.2009.03.004 DOI 10.1038/35098027 http://dx.doi.org/10.1038/35098027 DOI 10.1038/nature04632 http://dx.doi.org/10.1038/nature04632 DOI 10.1038/nature09767 http://dx.doi.org/10.1038/nature09767 DOI 10.1038/nature09769 http://dx.doi.org/10.1038/nature09769 DOI 10.1074/jbc.M511288200 http://dx.doi.org/10.1074/jbc.M511288200 DOI 10.1093/humrep/deh043 http://dx.doi.org/10.1093/humrep/deh043 DOI 10.1093/molehr/gam009 http://dx.doi.org/10.1093/molehr/gam009 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1745-7262.2006.00132.x http://dx.doi.org/10.1111/j.1745-7262.2006.00132.x DOI 10.1126/science.aad6887 http://dx.doi.org/10.1126/science.aad6887 EMBL AF407333 http://www.ebi.ac.uk/ena/data/view/AF407333 EMBL AP006287 http://www.ebi.ac.uk/ena/data/view/AP006287 EMBL BC032950 http://www.ebi.ac.uk/ena/data/view/BC032950 EMBL BC036522 http://www.ebi.ac.uk/ena/data/view/BC036522 Ensembl ENST00000312106 http://www.ensembl.org/id/ENST00000312106 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0031514 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031514 GO_component GO:0036128 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0036128 GO_function GO:0005227 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005227 GO_function GO:0005245 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005245 GO_process GO:0007275 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007275 GO_process GO:0007283 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007283 GO_process GO:0007342 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007342 GO_process GO:0030154 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030154 GO_process GO:0030317 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030317 GO_process GO:0032570 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032570 GO_process GO:0035036 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035036 GO_process GO:0051924 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051924 GO_process GO:0060296 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060296 GO_process GO:0086010 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086010 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0005929 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005929 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0030154 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030154 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0048870 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048870 GOslim_process GO:0061024 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061024 Gene3D 1.20.120.350 http://www.cathdb.info/version/latest/superfamily/1.20.120.350 GeneCards CATSPER1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CATSPER1 GeneID 117144 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=117144 GeneTree ENSGT00830000128247 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00830000128247 H-InvDB HIX0201680 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0201680 HGNC HGNC:17116 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:17116 HOGENOM HOG000112051 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000112051&db=HOGENOM6 HOVERGEN HBG098336 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG098336&db=HOVERGEN InParanoid Q8NEC5 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8NEC5 IntAct Q8NEC5 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q8NEC5* InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR027359 http://www.ebi.ac.uk/interpro/entry/IPR027359 InterPro IPR028746 http://www.ebi.ac.uk/interpro/entry/IPR028746 Jabion 117144 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=117144 KEGG_Disease H01282 http://www.genome.jp/dbget-bin/www_bget?H01282 KEGG_Gene hsa:117144 http://www.genome.jp/dbget-bin/www_bget?hsa:117144 MIM 606389 http://www.ncbi.nlm.nih.gov/omim/606389 MIM 612997 http://www.ncbi.nlm.nih.gov/omim/612997 MINT MINT-1453027 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1453027 OMA VCLNTIM http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=VCLNTIM Orphanet 276234 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=276234 OrthoDB EOG091G0KAS http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0KAS PANTHER PTHR10037:SF216 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10037:SF216 PSORT swissprot:CTSR1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CTSR1_HUMAN PSORT-B swissprot:CTSR1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CTSR1_HUMAN PSORT2 swissprot:CTSR1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CTSR1_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 PharmGKB PA38438 http://www.pharmgkb.org/do/serve?objId=PA38438&objCls=Gene Phobius swissprot:CTSR1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CTSR1_HUMAN PhylomeDB Q8NEC5 http://phylomedb.org/?seqid=Q8NEC5 ProteinModelPortal Q8NEC5 http://www.proteinmodelportal.org/query/uniprot/Q8NEC5 PubMed 11595941 http://www.ncbi.nlm.nih.gov/pubmed/11595941 PubMed 14688170 http://www.ncbi.nlm.nih.gov/pubmed/14688170 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16554811 http://www.ncbi.nlm.nih.gov/pubmed/16554811 PubMed 16625279 http://www.ncbi.nlm.nih.gov/pubmed/16625279 PubMed 16740636 http://www.ncbi.nlm.nih.gov/pubmed/16740636 PubMed 17347248 http://www.ncbi.nlm.nih.gov/pubmed/17347248 PubMed 19344877 http://www.ncbi.nlm.nih.gov/pubmed/19344877 PubMed 21412338 http://www.ncbi.nlm.nih.gov/pubmed/21412338 PubMed 21412339 http://www.ncbi.nlm.nih.gov/pubmed/21412339 PubMed 26989199 http://www.ncbi.nlm.nih.gov/pubmed/26989199 Reactome R-HSA-1300642 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1300642 RefSeq NP_444282 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_444282 STRING 9606.ENSP00000309052 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000309052&targetmode=cogs TCDB 1.A.1.19 http://www.tcdb.org/search/result.php?tc=1.A.1.19 UCSC uc001ogt http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001ogt&org=rat UniGene Hs.189105 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.189105 UniProtKB CTSR1_HUMAN http://www.uniprot.org/uniprot/CTSR1_HUMAN UniProtKB-AC Q8NEC5 http://www.uniprot.org/uniprot/Q8NEC5 charge swissprot:CTSR1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CTSR1_HUMAN eggNOG ENOG410XNP6 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XNP6 eggNOG KOG2302 http://eggnogapi.embl.de/nog_data/html/tree/KOG2302 epestfind swissprot:CTSR1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CTSR1_HUMAN garnier swissprot:CTSR1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CTSR1_HUMAN helixturnhelix swissprot:CTSR1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CTSR1_HUMAN hmoment swissprot:CTSR1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CTSR1_HUMAN iep swissprot:CTSR1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CTSR1_HUMAN inforesidue swissprot:CTSR1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CTSR1_HUMAN neXtProt NX_Q8NEC5 http://www.nextprot.org/db/entry/NX_Q8NEC5 octanol swissprot:CTSR1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CTSR1_HUMAN pepcoil swissprot:CTSR1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CTSR1_HUMAN pepdigest swissprot:CTSR1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CTSR1_HUMAN pepinfo swissprot:CTSR1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CTSR1_HUMAN pepnet swissprot:CTSR1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CTSR1_HUMAN pepstats swissprot:CTSR1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CTSR1_HUMAN pepwheel swissprot:CTSR1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CTSR1_HUMAN pepwindow swissprot:CTSR1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CTSR1_HUMAN sigcleave swissprot:CTSR1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CTSR1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS PKD1_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=P98161-1; Sequence=Displayed; Name=2; IsoId=P98161-2; Sequence=VSP_009677, VSP_009678; Name=3; IsoId=P98161-3; Sequence=VSP_009678; # AltName PKD1_HUMAN Autosomal dominant polycystic kidney disease 1 protein # BioGrid 111327 19 # CAUTION PKD1_HUMAN Variant Cys-2379 has been originally described as a benign polymorphism (PubMed 10854095). However, it is a likely pathogenic mutation (PubMed 22508176). {ECO 0000305|PubMed 10854095, ECO 0000305|PubMed 22508176}. # CCDS CCDS32369 -. [P98161-1] # CCDS CCDS45385 -. [P98161-3] # DISEASE PKD1_HUMAN Polycystic kidney disease 1 (PKD1) [MIM 173900] A disorder characterized by renal cysts, liver cysts and intracranial aneurysm. Clinical variability is due to differences in the rate of loss of glomerular filtration, the age of reaching end-stage renal disease and the occurrence of hypertension, symptomatic extrarenal cysts, and subarachnoid hemorrhage from intracranial 'berry' aneurysm. {ECO 0000269|PubMed 10200984, ECO 0000269|PubMed 10364515, ECO 0000269|PubMed 10577909, ECO 0000269|PubMed 10647901, ECO 0000269|PubMed 10729710, ECO 0000269|PubMed 10854095, ECO 0000269|PubMed 10923040, ECO 0000269|PubMed 10987650, ECO 0000269|PubMed 11012875, ECO 0000269|PubMed 11058904, ECO 0000269|PubMed 11115377, ECO 0000269|PubMed 11216660, ECO 0000269|PubMed 11316854, ECO 0000269|PubMed 11558899, ECO 0000269|PubMed 11571556, ECO 0000269|PubMed 11691639, ECO 0000269|PubMed 11773467, ECO 0000269|PubMed 11857740, ECO 0000269|PubMed 11967008, ECO 0000269|PubMed 12007219, ECO 0000269|PubMed 12070253, ECO 0000269|PubMed 12220456, ECO 0000269|PubMed 12842373, ECO 0000269|PubMed 15772804, ECO 0000269|PubMed 18837007, ECO 0000269|PubMed 21115670, ECO 0000269|PubMed 22508176, ECO 0000269|PubMed 8554072, ECO 0000269|PubMed 9199561, ECO 0000269|PubMed 9259200, ECO 0000269|PubMed 9285784, ECO 0000269|PubMed 9521593, ECO 0000269|PubMed 9921908}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DOMAIN PKD1_HUMAN The LDL-receptor class A domain is atypical; the potential calcium-binding site is missing. # Ensembl ENST00000262304 ENSP00000262304; ENSG00000008710. [P98161-1] # Ensembl ENST00000423118 ENSP00000399501; ENSG00000008710. [P98161-3] # ExpressionAtlas P98161 baseline and differential # FUNCTION PKD1_HUMAN Involved in renal tubulogenesis (PubMed 12482949). Involved in fluid-flow mechanosensation by the primary cilium in renal epithelium (By similarity). Acts as a regulator of cilium length, together with PKD2 (By similarity). The dynamic control of cilium length is essential in the regulation of mechanotransductive signaling (By similarity). The cilium length response creates a negative feedback loop whereby fluid shear- mediated deflection of the primary cilium, which decreases intracellular cAMP, leads to cilium shortening and thus decreases flow-induced signaling (By similarity). May be an ion-channel regulator. Involved in adhesive protein-protein and protein- carbohydrate interactions. {ECO 0000250|UniProtKB O08852, ECO 0000269|PubMed 12482949}. # GO_component GO:0000139 Golgi membrane; TAS:Reactome. # GO_component GO:0002133 polycystin complex; ISS:BHF-UCL. # GO_component GO:0005634 nucleus; ISS:BHF-UCL. # GO_component GO:0005737 cytoplasm; ISS:BHF-UCL. # GO_component GO:0005886 plasma membrane; IDA:MGI. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0005929 cilium; ISS:UniProtKB. # GO_component GO:0009986 cell surface; IEA:Ensembl. # GO_component GO:0016021 integral component of membrane; NAS:BHF-UCL. # GO_component GO:0016323 basolateral plasma membrane; IDA:BHF-UCL. # GO_component GO:0016328 lateral plasma membrane; IEA:Ensembl. # GO_component GO:0030660 Golgi-associated vesicle membrane; TAS:Reactome. # GO_component GO:0031514 motile cilium; ISS:BHF-UCL. # GO_component GO:0060170 ciliary membrane; TAS:Reactome. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0005262 calcium channel activity; ISS:BHF-UCL. # GO_function GO:0019901 protein kinase binding; IPI:UniProtKB. # GO_function GO:0019904 protein domain specific binding; IPI:BHF-UCL. # GO_function GO:0030246 carbohydrate binding; IEA:UniProtKB-KW. # GO_function GO:0044325 ion channel binding; IPI:BHF-UCL. # GO_process GO:0001502 cartilage condensation; IEA:Ensembl. # GO_process GO:0001701 in utero embryonic development; ISS:BHF-UCL. # GO_process GO:0001822 kidney development; ISS:BHF-UCL. # GO_process GO:0001889 liver development; IEA:Ensembl. # GO_process GO:0001892 embryonic placenta development; ISS:BHF-UCL. # GO_process GO:0006611 protein export from nucleus; ISS:BHF-UCL. # GO_process GO:0006807 nitrogen compound metabolic process; IEA:Ensembl. # GO_process GO:0007050 cell cycle arrest; ISS:BHF-UCL. # GO_process GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules; TAS:ProtInc. # GO_process GO:0007160 cell-matrix adhesion; TAS:ProtInc. # GO_process GO:0007161 calcium-independent cell-matrix adhesion; TAS:ProtInc. # GO_process GO:0007204 positive regulation of cytosolic calcium ion concentration; IEA:Ensembl. # GO_process GO:0007259 JAK-STAT cascade; ISS:BHF-UCL. # GO_process GO:0007507 heart development; IEP:UniProtKB. # GO_process GO:0009653 anatomical structure morphogenesis; TAS:ProtInc. # GO_process GO:0016337 single organismal cell-cell adhesion; IEA:Ensembl. # GO_process GO:0018105 peptidyl-serine phosphorylation; ISS:BHF-UCL. # GO_process GO:0021510 spinal cord development; IEP:UniProtKB. # GO_process GO:0021915 neural tube development; IEP:UniProtKB. # GO_process GO:0030010 establishment of cell polarity; IEA:Ensembl. # GO_process GO:0030155 regulation of cell adhesion; IEA:Ensembl. # GO_process GO:0031659 positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle; IDA:BHF-UCL. # GO_process GO:0032092 positive regulation of protein binding; ISS:BHF-UCL. # GO_process GO:0034405 response to fluid shear stress; IEA:Ensembl. # GO_process GO:0036303 lymph vessel morphogenesis; IEA:Ensembl. # GO_process GO:0042994 cytoplasmic sequestering of transcription factor; ISS:BHF-UCL. # GO_process GO:0043588 skin development; IEP:UniProtKB. # GO_process GO:0045944 positive regulation of transcription from RNA polymerase II promoter; IDA:BHF-UCL. # GO_process GO:0048565 digestive tract development; IEP:UniProtKB. # GO_process GO:0048754 branching morphogenesis of an epithelial tube; IDA:UniProtKB. # GO_process GO:0048806 genitalia development; IEP:UniProtKB. # GO_process GO:0050982 detection of mechanical stimulus; ISS:BHF-UCL. # GO_process GO:0051216 cartilage development; IEP:UniProtKB. # GO_process GO:0060236 regulation of mitotic spindle organization; IEA:Ensembl. # GO_process GO:0060428 lung epithelium development; IEP:UniProtKB. # GO_process GO:0060674 placenta blood vessel development; ISS:BHF-UCL. # GO_process GO:0061136 regulation of proteasomal protein catabolic process; IDA:MGI. # GO_process GO:0070588 calcium ion transmembrane transport; ISS:BHF-UCL. # GO_process GO:0072164 mesonephric tubule development; IEP:UniProtKB. # GO_process GO:0072177 mesonephric duct development; IEP:UniProtKB. # GO_process GO:0072205 metanephric collecting duct development; IEP:UniProtKB. # GO_process GO:0072218 metanephric ascending thin limb development; IEP:UniProtKB. # GO_process GO:0072237 metanephric proximal tubule development; IEP:UniProtKB. # GO_process GO:0072287 metanephric distal tubule morphogenesis; IEP:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0005929 cilium # GOslim_component GO:0043226 organelle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0019899 enzyme binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006464 cellular protein modification process # GOslim_process GO:0006913 nucleocytoplasmic transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007155 cell adhesion # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0009790 embryo development # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0055085 transmembrane transport # Gene3D 2.60.40.670 -; 14. # Gene3D 2.60.60.20 -; 1. # Gene3D 3.10.100.10 -; 2. # Gene3D 3.80.10.10 -; 1. # Genevisible P98161 HS # HGNC HGNC:9008 PKD1 # INTERACTION PKD1_HUMAN O15259 NPHP1; NbExp=2; IntAct=EBI-1752013, EBI-953828; Q13563 PKD2; NbExp=8; IntAct=EBI-1752013, EBI-7813714; # IntAct P98161 7 # InterPro IPR000203 GPS # InterPro IPR000372 LRRNT # InterPro IPR000434 PC1 # InterPro IPR000483 Cys-rich_flank_reg_C # InterPro IPR000601 PKD_dom # InterPro IPR001024 PLAT/LH2_dom # InterPro IPR001304 C-type_lectin-like # InterPro IPR001611 Leu-rich_rpt # InterPro IPR002859 PKD/REJ-like # InterPro IPR002889 WSC_carb-bd # InterPro IPR003591 Leu-rich_rpt_typical-subtyp # InterPro IPR006228 Polycystin_cat # InterPro IPR013122 PKD1_2_channel # InterPro IPR014010 REJ_dom # InterPro IPR016186 C-type_lectin-like/link # InterPro IPR016187 CTDL_fold # InterPro IPR022409 PKD/Chitinase_dom # InterPro IPR032675 L_dom-like # KEGG_Brite ko04040 Ion channels # KEGG_Brite ko04812 Cytoskeleton proteins # KEGG_Disease H00542 [Developmental disorder; Kidney disease; Liver disease] Polycystic kidney disease # MIM 173900 phenotype # MIM 601313 gene+phenotype # Organism PKD1_HUMAN Homo sapiens (Human) # Orphanet 730 Autosomal dominant polycystic kidney disease # Orphanet 88924 Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis # PDB 1B4R NMR; -; A=275-354 # PIR A38971 A38971 # PRINTS PR00500 POLYCYSTIN1 # PROSITE PS50041 C_TYPE_LECTIN_2 # PROSITE PS50093 PKD; 12 # PROSITE PS50095 PLAT # PROSITE PS50221 GPS # PROSITE PS51111 REJ # PROSITE PS51212 WSC # PROSITE PS51450 LRR; 2 # PTM PKD1_HUMAN After synthesis, undergoes cleavage between Leu-3048 and Thr- 3049 in the GPS domain. Cleavage at the GPS domain occurs through a cis-autoproteolytic mechanism involving an ester-intermediate via N-O acyl rearrangement. This process takes place in the early secretory pathway, depends on initial N-glycosylation, and requires the REJ domain. There is evidence that cleavage at GPS domain is incomplete. Uncleaved and cleaved products may have different functions in vivo. {ECO 0000269|PubMed 12482949}. # Pfam PF00059 Lectin_C # Pfam PF00801 PKD; 15 # Pfam PF01477 PLAT # Pfam PF01822 WSC # Pfam PF02010 REJ # Pfam PF08016 PKD_channel # Pfam PF13855 LRR_8 # Proteomes UP000005640 Chromosome 16 # Reactome R-HSA-5620916 VxPx cargo-targeting to cilium # RecName PKD1_HUMAN Polycystin-1 # RefSeq NP_000287 NM_000296.3 # RefSeq NP_001009944 NM_001009944.2 # SIMILARITY Belongs to the polycystin family. {ECO 0000305}. # SIMILARITY Contains 1 C-type lectin domain. {ECO:0000255|PROSITE- ProRule PRU00040}. # SIMILARITY Contains 1 GPS domain. {ECO:0000255|PROSITE- ProRule PRU00098}. # SIMILARITY Contains 1 LDL-receptor class A domain. {ECO 0000305}. # SIMILARITY Contains 1 LRRCT domain. {ECO 0000305}. # SIMILARITY Contains 1 LRRNT domain. {ECO 0000305}. # SIMILARITY Contains 1 PLAT domain. {ECO:0000255|PROSITE- ProRule PRU00152}. # SIMILARITY Contains 1 REJ domain. {ECO:0000255|PROSITE- ProRule PRU00511}. # SIMILARITY Contains 1 WSC domain. {ECO:0000255|PROSITE- ProRule PRU00558}. # SIMILARITY Contains 17 PKD domains. {ECO:0000255|PROSITE- ProRule PRU00151}. # SIMILARITY Contains 2 LRR (leucine-rich) repeats. {ECO 0000305}. # SMART SM00013 LRRNT # SMART SM00034 CLECT # SMART SM00082 LRRCT # SMART SM00089 PKD; 15 # SMART SM00303 GPS # SMART SM00308 LH2 # SMART SM00321 WSC # SMART SM00369 LRR_TYP; 2 # SUBCELLULAR LOCATION PKD1_HUMAN Cell membrane {ECO 0000269|PubMed 10339594, ECO 0000269|PubMed 20980620}; Multi-pass membrane protein {ECO 0000269|PubMed 20980620}. Cell projection, cilium {ECO 0000250|UniProtKB O08852}. Note=PKD1 localization to the plasma and ciliary membranes requires PKD2, is independent of PKD2 channel activity, and involves stimulation of PKD1 autoproteolytic cleavage at the GPS domain (By similarity). Ciliary localization of PKD1 requires BBS1 and ARL6/BBS3 (By similarity). {ECO 0000250|UniProtKB O08852}. # SUBUNIT PKD1_HUMAN Interacts with PKD2 and PKD2L1 (By similarity). Interacts with PRKX; involved in differentiation and controlled morphogenesis of the kidney (PubMed 17980165). Interacts with NPHP1 (via SH3 domain) (PubMed 20856870). Interacts with BBS1, BBS4, BBS5 and TTC8 (PubMed 24939912). Interacts with RGS7 (PubMed 10339594). {ECO 0000250|UniProtKB O08852, ECO 0000269|PubMed 10339594, ECO 0000269|PubMed 17980165, ECO 0000269|PubMed 20856870, ECO 0000269|PubMed 24939912}. # SUPFAM SSF49299 SSF49299; 13 # SUPFAM SSF49723 SSF49723 # SUPFAM SSF52058 SSF52058 # SUPFAM SSF56436 SSF56436 # TCDB 1.A.5.1 the polycystin cation channel (pcc) family # TIGRFAMs TIGR00864 PCC # UCSC uc002cos human. [P98161-1] # WEB RESOURCE PKD1_HUMAN Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http //atlasgeneticsoncology.org/Genes/PKD1ID41725ch16p13.html"; # WEB RESOURCE PKD1_HUMAN Name=Functional Glycomics Gateway - Glycan Binding; Note=Polycystin-1; URL="http //www.functionalglycomics.org/glycomics/GBPServlet?&operationType=view&cbpId=cbp_hum_Ctlect_204"; # eggNOG ENOG410XTGE LUCA # eggNOG KOG3599 Eukaryota BLAST swissprot:PKD1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:PKD1_HUMAN BioCyc ZFISH:ENSG00000008710-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000008710-MONOMER COXPRESdb 5310 http://coxpresdb.jp/data/gene/5310.shtml CleanEx HS_PKD1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_PKD1 DIP DIP-52317N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-52317N DOI 10.1002/(SICI)1098-1004(1997)10:2<164::AID-HUMU9>3.0.CO http://dx.doi.org/10.1002/(SICI)1098-1004(1997)10:2<164::AID-HUMU9>3.0.CO DOI 10.1002/1098-1004(200008)16:2<176::AID-HUMU11>3.0.CO http://dx.doi.org/10.1002/1098-1004(200008)16:2<176::AID-HUMU11>3.0.CO DOI 10.1002/1098-1004(200011)16:5<444::AID-HUMU11>3.0.CO http://dx.doi.org/10.1002/1098-1004(200011)16:5<444::AID-HUMU11>3.0.CO DOI 10.1002/humu.10045 http://dx.doi.org/10.1002/humu.10045 DOI 10.1002/humu.10080 http://dx.doi.org/10.1002/humu.10080 DOI 10.1002/humu.20842 http://dx.doi.org/10.1002/humu.20842 DOI 10.1002/humu.22103 http://dx.doi.org/10.1002/humu.22103 DOI 10.1007/s00109-005-0644-6 http://dx.doi.org/10.1007/s00109-005-0644-6 DOI 10.1007/s004390050421 http://dx.doi.org/10.1007/s004390050421 DOI 10.1007/s004390050681 http://dx.doi.org/10.1007/s004390050681 DOI 10.1007/s004390050896 http://dx.doi.org/10.1007/s004390050896 DOI 10.1007/s004390051094 http://dx.doi.org/10.1007/s004390051094 DOI 10.1007/s004399900177 http://dx.doi.org/10.1007/s004399900177 DOI 10.1007/s100380170032 http://dx.doi.org/10.1007/s100380170032 DOI 10.1016/S0027-5107(01)00226-3 http://dx.doi.org/10.1016/S0027-5107(01)00226-3 DOI 10.1016/S0140-6736(03)13773-7 http://dx.doi.org/10.1016/S0140-6736(03)13773-7 DOI 10.1016/S0165-6147(00)01832-0 http://dx.doi.org/10.1016/S0165-6147(00)01832-0 DOI 10.1016/S1383-5726(99)00013-8 http://dx.doi.org/10.1016/S1383-5726(99)00013-8 DOI 10.1016/j.bbadis.2007.09.003 http://dx.doi.org/10.1016/j.bbadis.2007.09.003 DOI 10.1034/j.1399-0004.2002.620211.x http://dx.doi.org/10.1034/j.1399-0004.2002.620211.x DOI 10.1038/nature03187 http://dx.doi.org/10.1038/nature03187 DOI 10.1038/ng0695-151 http://dx.doi.org/10.1038/ng0695-151 DOI 10.1038/sj.ejhg.5200459 http://dx.doi.org/10.1038/sj.ejhg.5200459 DOI 10.1038/sj.ejhg.5200696 http://dx.doi.org/10.1038/sj.ejhg.5200696 DOI 10.1046/j.1523-1755.1999.00368.x http://dx.doi.org/10.1046/j.1523-1755.1999.00368.x DOI 10.1046/j.1523-1755.2000.00302.x http://dx.doi.org/10.1046/j.1523-1755.2000.00302.x DOI 10.1046/j.1523-1755.2002.00326.x http://dx.doi.org/10.1046/j.1523-1755.2002.00326.x DOI 10.1073/pnas.252484899 http://dx.doi.org/10.1073/pnas.252484899 DOI 10.1073/pnas.96.11.6371 http://dx.doi.org/10.1073/pnas.96.11.6371 DOI 10.1074/jbc.M703218200 http://dx.doi.org/10.1074/jbc.M703218200 DOI 10.1086/302460 http://dx.doi.org/10.1086/302460 DOI 10.1086/302657 http://dx.doi.org/10.1086/302657 DOI 10.1086/316939 http://dx.doi.org/10.1086/316939 DOI 10.1086/515467 http://dx.doi.org/10.1086/515467 DOI 10.1089/109065700750065108 http://dx.doi.org/10.1089/109065700750065108 DOI 10.1091/mbc.E10-05-0407 http://dx.doi.org/10.1091/mbc.E10-05-0407 DOI 10.1093/emboj/18.2.297 http://dx.doi.org/10.1093/emboj/18.2.297 DOI 10.1093/hmg/6.9.1473 http://dx.doi.org/10.1093/hmg/6.9.1473 DOI 10.1093/hmg/ddu267 http://dx.doi.org/10.1093/hmg/ddu267 DOI 10.1093/ndt/17.1.75 http://dx.doi.org/10.1093/ndt/17.1.75 DOI 10.1093/ndt/gfq720 http://dx.doi.org/10.1093/ndt/gfq720 DOI 10.1136/jmg.39.6.422 http://dx.doi.org/10.1136/jmg.39.6.422 DOI 10.1371/journal.pone.0012719 http://dx.doi.org/10.1371/journal.pone.0012719 EMBL AC009065 http://www.ebi.ac.uk/ena/data/view/AC009065 EMBL AC093513 http://www.ebi.ac.uk/ena/data/view/AC093513 EMBL L33243 http://www.ebi.ac.uk/ena/data/view/L33243 EMBL L43601 http://www.ebi.ac.uk/ena/data/view/L43601 EMBL L43602 http://www.ebi.ac.uk/ena/data/view/L43602 EMBL L43604 http://www.ebi.ac.uk/ena/data/view/L43604 EMBL L43605 http://www.ebi.ac.uk/ena/data/view/L43605 EMBL L43610 http://www.ebi.ac.uk/ena/data/view/L43610 EMBL L43617 http://www.ebi.ac.uk/ena/data/view/L43617 EMBL L43618 http://www.ebi.ac.uk/ena/data/view/L43618 EMBL L43619 http://www.ebi.ac.uk/ena/data/view/L43619 EMBL U24497 http://www.ebi.ac.uk/ena/data/view/U24497 Ensembl ENST00000262304 http://www.ensembl.org/id/ENST00000262304 Ensembl ENST00000423118 http://www.ensembl.org/id/ENST00000423118 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000139 GO_component GO:0002133 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002133 GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0005929 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005929 GO_component GO:0009986 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009986 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0016323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016323 GO_component GO:0016328 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016328 GO_component GO:0030660 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030660 GO_component GO:0031514 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031514 GO_component GO:0060170 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060170 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0005262 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005262 GO_function GO:0019901 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019901 GO_function GO:0019904 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019904 GO_function GO:0030246 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030246 GO_function GO:0044325 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044325 GO_process GO:0001502 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001502 GO_process GO:0001701 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001701 GO_process GO:0001822 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001822 GO_process GO:0001889 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001889 GO_process GO:0001892 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001892 GO_process GO:0006611 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006611 GO_process GO:0006807 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006807 GO_process GO:0007050 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007050 GO_process GO:0007156 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007156 GO_process GO:0007160 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007160 GO_process GO:0007161 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007161 GO_process GO:0007204 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007204 GO_process GO:0007259 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007259 GO_process GO:0007507 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007507 GO_process GO:0009653 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009653 GO_process GO:0016337 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016337 GO_process GO:0018105 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0018105 GO_process GO:0021510 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021510 GO_process GO:0021915 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021915 GO_process GO:0030010 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030010 GO_process GO:0030155 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030155 GO_process GO:0031659 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031659 GO_process GO:0032092 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032092 GO_process GO:0034405 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034405 GO_process GO:0036303 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0036303 GO_process GO:0042994 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042994 GO_process GO:0043588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043588 GO_process GO:0045944 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045944 GO_process GO:0048565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048565 GO_process GO:0048754 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048754 GO_process GO:0048806 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048806 GO_process GO:0050982 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050982 GO_process GO:0051216 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051216 GO_process GO:0060236 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060236 GO_process GO:0060428 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060428 GO_process GO:0060674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060674 GO_process GO:0061136 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061136 GO_process GO:0070588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070588 GO_process GO:0072164 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0072164 GO_process GO:0072177 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0072177 GO_process GO:0072205 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0072205 GO_process GO:0072218 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0072218 GO_process GO:0072237 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0072237 GO_process GO:0072287 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0072287 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0005929 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005929 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006464 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006464 GOslim_process GO:0006913 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006913 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007155 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007155 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0009790 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009790 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 2.60.40.670 http://www.cathdb.info/version/latest/superfamily/2.60.40.670 Gene3D 2.60.60.20 http://www.cathdb.info/version/latest/superfamily/2.60.60.20 Gene3D 3.10.100.10 http://www.cathdb.info/version/latest/superfamily/3.10.100.10 Gene3D 3.80.10.10 http://www.cathdb.info/version/latest/superfamily/3.80.10.10 GeneCards PKD1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=PKD1 GeneID 5310 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=5310 GeneTree ENSGT00700000104221 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00700000104221 H-InvDB HIX0173395 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0173395 H-InvDB HIX0202314 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0202314 HGNC HGNC:9008 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:9008 HOGENOM HOG000168445 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000168445&db=HOGENOM6 HOVERGEN HBG049412 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG049412&db=HOVERGEN HPA CAB046448 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB046448 InParanoid P98161 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P98161 IntAct P98161 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P98161* InterPro IPR000203 http://www.ebi.ac.uk/interpro/entry/IPR000203 InterPro IPR000372 http://www.ebi.ac.uk/interpro/entry/IPR000372 InterPro IPR000434 http://www.ebi.ac.uk/interpro/entry/IPR000434 InterPro IPR000483 http://www.ebi.ac.uk/interpro/entry/IPR000483 InterPro IPR000601 http://www.ebi.ac.uk/interpro/entry/IPR000601 InterPro IPR001024 http://www.ebi.ac.uk/interpro/entry/IPR001024 InterPro IPR001304 http://www.ebi.ac.uk/interpro/entry/IPR001304 InterPro IPR001611 http://www.ebi.ac.uk/interpro/entry/IPR001611 InterPro IPR002859 http://www.ebi.ac.uk/interpro/entry/IPR002859 InterPro IPR002889 http://www.ebi.ac.uk/interpro/entry/IPR002889 InterPro IPR003591 http://www.ebi.ac.uk/interpro/entry/IPR003591 InterPro IPR006228 http://www.ebi.ac.uk/interpro/entry/IPR006228 InterPro IPR013122 http://www.ebi.ac.uk/interpro/entry/IPR013122 InterPro IPR014010 http://www.ebi.ac.uk/interpro/entry/IPR014010 InterPro IPR016186 http://www.ebi.ac.uk/interpro/entry/IPR016186 InterPro IPR016187 http://www.ebi.ac.uk/interpro/entry/IPR016187 InterPro IPR022409 http://www.ebi.ac.uk/interpro/entry/IPR022409 InterPro IPR032675 http://www.ebi.ac.uk/interpro/entry/IPR032675 Jabion 5310 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=5310 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Brite ko04812 http://www.genome.jp/dbget-bin/www_bget?ko04812 KEGG_Disease H00542 http://www.genome.jp/dbget-bin/www_bget?H00542 KEGG_Gene hsa:5310 http://www.genome.jp/dbget-bin/www_bget?hsa:5310 KEGG_Orthology KO:K04985 http://www.genome.jp/dbget-bin/www_bget?KO:K04985 MIM 173900 http://www.ncbi.nlm.nih.gov/omim/173900 MIM 601313 http://www.ncbi.nlm.nih.gov/omim/601313 MINT MINT-1199187 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1199187 OMA VSCKAQS http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=VSCKAQS Orphanet 730 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=730 Orphanet 88924 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=88924 OrthoDB EOG091G004D http://cegg.unige.ch/orthodb/results?searchtext=EOG091G004D PDB 1B4R http://www.ebi.ac.uk/pdbe-srv/view/entry/1B4R PDBsum 1B4R http://www.ebi.ac.uk/pdbsum/1B4R PRINTS PR00500 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00500 PROSITE PS50041 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50041 PROSITE PS50093 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50093 PROSITE PS50095 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50095 PROSITE PS50221 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50221 PROSITE PS51111 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51111 PROSITE PS51212 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51212 PROSITE PS51450 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51450 PSORT swissprot:PKD1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:PKD1_HUMAN PSORT-B swissprot:PKD1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:PKD1_HUMAN PSORT2 swissprot:PKD1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:PKD1_HUMAN Pfam PF00059 http://pfam.xfam.org/family/PF00059 Pfam PF00801 http://pfam.xfam.org/family/PF00801 Pfam PF01477 http://pfam.xfam.org/family/PF01477 Pfam PF01822 http://pfam.xfam.org/family/PF01822 Pfam PF02010 http://pfam.xfam.org/family/PF02010 Pfam PF08016 http://pfam.xfam.org/family/PF08016 Pfam PF13855 http://pfam.xfam.org/family/PF13855 PharmGKB PA35521 http://www.pharmgkb.org/do/serve?objId=PA35521&objCls=Gene Phobius swissprot:PKD1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:PKD1_HUMAN PhylomeDB P98161 http://phylomedb.org/?seqid=P98161 ProteinModelPortal P98161 http://www.proteinmodelportal.org/query/uniprot/P98161 PubMed 10200984 http://www.ncbi.nlm.nih.gov/pubmed/10200984 PubMed 10339594 http://www.ncbi.nlm.nih.gov/pubmed/10339594 PubMed 10364515 http://www.ncbi.nlm.nih.gov/pubmed/10364515 PubMed 10577909 http://www.ncbi.nlm.nih.gov/pubmed/10577909 PubMed 10647901 http://www.ncbi.nlm.nih.gov/pubmed/10647901 PubMed 10729710 http://www.ncbi.nlm.nih.gov/pubmed/10729710 PubMed 10854095 http://www.ncbi.nlm.nih.gov/pubmed/10854095 PubMed 10923040 http://www.ncbi.nlm.nih.gov/pubmed/10923040 PubMed 10987650 http://www.ncbi.nlm.nih.gov/pubmed/10987650 PubMed 11012875 http://www.ncbi.nlm.nih.gov/pubmed/11012875 PubMed 11058904 http://www.ncbi.nlm.nih.gov/pubmed/11058904 PubMed 11115377 http://www.ncbi.nlm.nih.gov/pubmed/11115377 PubMed 11216660 http://www.ncbi.nlm.nih.gov/pubmed/11216660 PubMed 11316854 http://www.ncbi.nlm.nih.gov/pubmed/11316854 PubMed 11558899 http://www.ncbi.nlm.nih.gov/pubmed/11558899 PubMed 11571556 http://www.ncbi.nlm.nih.gov/pubmed/11571556 PubMed 11691639 http://www.ncbi.nlm.nih.gov/pubmed/11691639 PubMed 11698076 http://www.ncbi.nlm.nih.gov/pubmed/11698076 PubMed 11773467 http://www.ncbi.nlm.nih.gov/pubmed/11773467 PubMed 11857740 http://www.ncbi.nlm.nih.gov/pubmed/11857740 PubMed 11967008 http://www.ncbi.nlm.nih.gov/pubmed/11967008 PubMed 12007219 http://www.ncbi.nlm.nih.gov/pubmed/12007219 PubMed 12070253 http://www.ncbi.nlm.nih.gov/pubmed/12070253 PubMed 12220456 http://www.ncbi.nlm.nih.gov/pubmed/12220456 PubMed 12482949 http://www.ncbi.nlm.nih.gov/pubmed/12482949 PubMed 12842373 http://www.ncbi.nlm.nih.gov/pubmed/12842373 PubMed 15616553 http://www.ncbi.nlm.nih.gov/pubmed/15616553 PubMed 15772804 http://www.ncbi.nlm.nih.gov/pubmed/15772804 PubMed 17525154 http://www.ncbi.nlm.nih.gov/pubmed/17525154 PubMed 17980165 http://www.ncbi.nlm.nih.gov/pubmed/17980165 PubMed 18837007 http://www.ncbi.nlm.nih.gov/pubmed/18837007 PubMed 20856870 http://www.ncbi.nlm.nih.gov/pubmed/20856870 PubMed 20980620 http://www.ncbi.nlm.nih.gov/pubmed/20980620 PubMed 21115670 http://www.ncbi.nlm.nih.gov/pubmed/21115670 PubMed 22508176 http://www.ncbi.nlm.nih.gov/pubmed/22508176 PubMed 24939912 http://www.ncbi.nlm.nih.gov/pubmed/24939912 PubMed 7663510 http://www.ncbi.nlm.nih.gov/pubmed/7663510 PubMed 7736581 http://www.ncbi.nlm.nih.gov/pubmed/7736581 PubMed 8004675 http://www.ncbi.nlm.nih.gov/pubmed/8004675 PubMed 8069919 http://www.ncbi.nlm.nih.gov/pubmed/8069919 PubMed 8554072 http://www.ncbi.nlm.nih.gov/pubmed/8554072 PubMed 9150733 http://www.ncbi.nlm.nih.gov/pubmed/9150733 PubMed 9199561 http://www.ncbi.nlm.nih.gov/pubmed/9199561 PubMed 9259200 http://www.ncbi.nlm.nih.gov/pubmed/9259200 PubMed 9285784 http://www.ncbi.nlm.nih.gov/pubmed/9285784 PubMed 9521593 http://www.ncbi.nlm.nih.gov/pubmed/9521593 PubMed 9889186 http://www.ncbi.nlm.nih.gov/pubmed/9889186 PubMed 9921908 http://www.ncbi.nlm.nih.gov/pubmed/9921908 Reactome R-HSA-5620916 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5620916 RefSeq NP_000287 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000287 RefSeq NP_001009944 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001009944 SMART SM00013 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00013 SMART SM00034 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00034 SMART SM00082 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00082 SMART SM00089 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00089 SMART SM00303 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00303 SMART SM00308 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00308 SMART SM00321 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00321 SMART SM00369 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00369 SMR P98161 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P98161 STRING 9606.ENSP00000262304 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000262304&targetmode=cogs SUPFAM SSF49299 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF49299 SUPFAM SSF49723 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF49723 SUPFAM SSF52058 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52058 SUPFAM SSF56436 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF56436 TCDB 1.A.5.1 http://www.tcdb.org/search/result.php?tc=1.A.5.1 TIGRFAMs TIGR00864 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00864 UCSC uc002cos http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002cos&org=rat UniGene Hs.75813 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.75813 UniProtKB PKD1_HUMAN http://www.uniprot.org/uniprot/PKD1_HUMAN UniProtKB-AC P98161 http://www.uniprot.org/uniprot/P98161 charge swissprot:PKD1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:PKD1_HUMAN eggNOG ENOG410XTGE http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XTGE eggNOG KOG3599 http://eggnogapi.embl.de/nog_data/html/tree/KOG3599 epestfind swissprot:PKD1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:PKD1_HUMAN garnier swissprot:PKD1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:PKD1_HUMAN helixturnhelix swissprot:PKD1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:PKD1_HUMAN hmoment swissprot:PKD1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:PKD1_HUMAN iep swissprot:PKD1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:PKD1_HUMAN inforesidue swissprot:PKD1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:PKD1_HUMAN neXtProt NX_P98161 http://www.nextprot.org/db/entry/NX_P98161 octanol swissprot:PKD1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:PKD1_HUMAN pepcoil swissprot:PKD1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:PKD1_HUMAN pepdigest swissprot:PKD1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:PKD1_HUMAN pepinfo swissprot:PKD1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:PKD1_HUMAN pepnet swissprot:PKD1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:PKD1_HUMAN pepstats swissprot:PKD1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:PKD1_HUMAN pepwheel swissprot:PKD1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:PKD1_HUMAN pepwindow swissprot:PKD1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:PKD1_HUMAN sigcleave swissprot:PKD1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:PKD1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS ABCCD_HUMAN Event=Alternative splicing; Named isoforms=5; Comment=Experimental confirmation may be lacking for some isoforms.; Name=1; Synonyms=A; IsoId=Q9NSE7-1; Sequence=Displayed; Name=2; IsoId=Q9NSE7-2; Sequence=VSP_000066; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=3; Synonyms=B; IsoId=Q9NSE7-3; Sequence=VSP_000067; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=4; Synonyms=D; IsoId=Q9NSE7-4; Sequence=VSP_012455, VSP_012456; Name=5; Synonyms=C; IsoId=Q9NSE7-5; Sequence=VSP_012454; # CAUTION Contains sequences related to the ABC transporters of subfamily C, but lacks Walker A, Walker B, and signature C motifs, indicating that it is a nonfunctional ABC transporter. Translation of the cDNA in a different reading frame predicts a 93 amino acid peptide with signature C and Walker B motifs, but no Walker A motif. {ECO 0000305}. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0005524 ATP binding; IEA:InterPro. # GO_function GO:0042626 ATPase activity, coupled to transmembrane movement of substances; IEA:InterPro. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # HGNC HGNC:16022 ABCC13 # INDUCTION Down-regulated by cell differentiation in certain leukemia cells. {ECO:0000269|PubMed 12445816}. # InterPro IPR011527 ABC1_TM_dom # MIM 608835 gene # Organism ABCCD_HUMAN Homo sapiens (Human) # PIR JC7909 JC7909 # PROSITE PS50929 ABC_TM1F # Pfam PF00664 ABC_membrane # Proteomes UP000005640 Unplaced # RecName ABCCD_HUMAN Putative ATP-binding cassette sub-family C member 13 # SIMILARITY Belongs to the binding-protein-dependent transport system permease family. {ECO 0000305}. # SIMILARITY Contains 1 ABC transmembrane type-1 domain. {ECO:0000255|PROSITE-ProRule PRU00441}. # SUBCELLULAR LOCATION ABCCD_HUMAN Membrane {ECO 0000255|PROSITE- ProRule PRU00441}; Multi-pass membrane protein {ECO 0000255|PROSITE-ProRule PRU00441}. # SUPFAM SSF90123 SSF90123 # TISSUE SPECIFICITY ABCCD_HUMAN Highest expression in fetal liver and fetal spleen. In the adult, highest levels are found in the colon ascending and transverse. Also expressed in brain, placenta, lung, liver, pancreas and ovary. In bone marrow cells, levels are several fold higher than in peripheral blood leukocytes. {ECO 0000269|PubMed 12036298, ECO 0000269|PubMed 12445816, ECO 0000269|PubMed 15203202}. # WEB RESOURCE ABCCD_HUMAN Name=ABCMdb; Note=Database for mutations in ABC proteins; URL="http //abcmutations.hegelab.org/proteinDetails?uniprot_id=Q9NSE7"; BLAST swissprot:ABCCD_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ABCCD_HUMAN BioCyc ZFISH:G66-33729-MONOMER http://biocyc.org/getid?id=ZFISH:G66-33729-MONOMER CleanEx HS_ABCC13 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ABCC13 DOI 10.1006/geno.2002.6782 http://dx.doi.org/10.1006/geno.2002.6782 DOI 10.1016/S0006-291X(02)02658-X http://dx.doi.org/10.1016/S0006-291X(02)02658-X DOI 10.1016/S0378-1119(03)00530-4 http://dx.doi.org/10.1016/S0378-1119(03)00530-4 DOI 10.1016/j.ygeno.2004.02.010 http://dx.doi.org/10.1016/j.ygeno.2004.02.010 DOI 10.1038/35012518 http://dx.doi.org/10.1038/35012518 DOI 10.1186/gb-2004-5-2-r8 http://dx.doi.org/10.1186/gb-2004-5-2-r8 EMBL AF418600 http://www.ebi.ac.uk/ena/data/view/AF418600 EMBL AF518320 http://www.ebi.ac.uk/ena/data/view/AF518320 EMBL AF518321 http://www.ebi.ac.uk/ena/data/view/AF518321 EMBL AP001660 http://www.ebi.ac.uk/ena/data/view/AP001660 EMBL AY063514 http://www.ebi.ac.uk/ena/data/view/AY063514 EMBL AY063515 http://www.ebi.ac.uk/ena/data/view/AY063515 EMBL AY344117 http://www.ebi.ac.uk/ena/data/view/AY344117 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0042626 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042626 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GeneCards ABCC13 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ABCC13 HGNC HGNC:16022 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:16022 InParanoid Q9NSE7 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9NSE7 InterPro IPR011527 http://www.ebi.ac.uk/interpro/entry/IPR011527 MIM 608835 http://www.ncbi.nlm.nih.gov/omim/608835 PROSITE PS50929 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50929 PSORT swissprot:ABCCD_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ABCCD_HUMAN PSORT-B swissprot:ABCCD_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ABCCD_HUMAN PSORT2 swissprot:ABCCD_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ABCCD_HUMAN Pfam PF00664 http://pfam.xfam.org/family/PF00664 Phobius swissprot:ABCCD_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ABCCD_HUMAN PhylomeDB Q9NSE7 http://phylomedb.org/?seqid=Q9NSE7 ProteinModelPortal Q9NSE7 http://www.proteinmodelportal.org/query/uniprot/Q9NSE7 PubMed 10830953 http://www.ncbi.nlm.nih.gov/pubmed/10830953 PubMed 12036298 http://www.ncbi.nlm.nih.gov/pubmed/12036298 PubMed 12445816 http://www.ncbi.nlm.nih.gov/pubmed/12445816 PubMed 12909339 http://www.ncbi.nlm.nih.gov/pubmed/12909339 PubMed 14759258 http://www.ncbi.nlm.nih.gov/pubmed/14759258 PubMed 15203202 http://www.ncbi.nlm.nih.gov/pubmed/15203202 SMR Q9NSE7 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9NSE7 SUPFAM SSF90123 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF90123 UniGene Hs.366575 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.366575 UniProtKB ABCCD_HUMAN http://www.uniprot.org/uniprot/ABCCD_HUMAN UniProtKB-AC Q9NSE7 http://www.uniprot.org/uniprot/Q9NSE7 charge swissprot:ABCCD_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ABCCD_HUMAN epestfind swissprot:ABCCD_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ABCCD_HUMAN garnier swissprot:ABCCD_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ABCCD_HUMAN helixturnhelix swissprot:ABCCD_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ABCCD_HUMAN hmoment swissprot:ABCCD_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ABCCD_HUMAN iep swissprot:ABCCD_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ABCCD_HUMAN inforesidue swissprot:ABCCD_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ABCCD_HUMAN neXtProt NX_Q9NSE7 http://www.nextprot.org/db/entry/NX_Q9NSE7 octanol swissprot:ABCCD_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ABCCD_HUMAN pepcoil swissprot:ABCCD_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ABCCD_HUMAN pepdigest swissprot:ABCCD_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ABCCD_HUMAN pepinfo swissprot:ABCCD_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ABCCD_HUMAN pepnet swissprot:ABCCD_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ABCCD_HUMAN pepstats swissprot:ABCCD_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ABCCD_HUMAN pepwheel swissprot:ABCCD_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ABCCD_HUMAN pepwindow swissprot:ABCCD_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ABCCD_HUMAN sigcleave swissprot:ABCCD_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ABCCD_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS KCND3_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=KCND3L, Long; IsoId=Q9UK17-1; Sequence=Displayed; Name=2; Synonyms=KCND3S, Short; IsoId=Q9UK17-2; Sequence=VSP_008826; # AltName KCND3_HUMAN Voltage-gated potassium channel subunit Kv4.3 # BioGrid 109954 35 # CCDS CCDS843 -. [Q9UK17-1] # CCDS CCDS844 -. [Q9UK17-2] # DISEASE KCND3_HUMAN Brugada syndrome 9 (BRGDA9) [MIM 616399] A tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset. {ECO 0000269|PubMed 21349352, ECO 0000269|PubMed 22457051}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE KCND3_HUMAN Spinocerebellar ataxia 19 (SCA19) [MIM 607346] A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA19 is a relatively mild, cerebellar ataxic syndrome with cognitive impairment, pyramidal tract involvement, tremor and peripheral neuropathy, and mild atrophy of the cerebellar hemispheres and vermis. {ECO 0000269|PubMed 23280837, ECO 0000269|PubMed 23280838}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DOMAIN KCND3_HUMAN The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position. # DrugBank DB00280 Disopyramide # DrugBank DB00321 Amitriptyline # DrugBank DB00458 Imipramine # DrugBank DB06637 Dalfampridine # Ensembl ENST00000302127 ENSP00000306923; ENSG00000171385. [Q9UK17-2] # Ensembl ENST00000315987 ENSP00000319591; ENSG00000171385. [Q9UK17-1] # Ensembl ENST00000369697 ENSP00000358711; ENSG00000171385. [Q9UK17-2] # ExpressionAtlas Q9UK17 baseline and differential # FUNCTION KCND3_HUMAN Pore-forming (alpha) subunit of voltage-gated rapidly inactivating A-type potassium channels. May contribute to I(To) current in heart and I(Sa) current in neurons. Channel properties are modulated by interactions with other alpha subunits and with regulatory subunits. {ECO 0000269|PubMed 10200233, ECO 0000269|PubMed 9843794}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0008076 voltage-gated potassium channel complex; IDA:BHF-UCL. # GO_component GO:0030425 dendrite; IEA:UniProtKB-SubCell. # GO_component GO:0042383 sarcolemma; IEA:UniProtKB-SubCell. # GO_function GO:0005250 A-type (transient outward) potassium channel activity; TAS:ProtInc. # GO_function GO:0044325 ion channel binding; IPI:BHF-UCL. # GO_function GO:0046872 metal ion binding; IEA:UniProtKB-KW. # GO_process GO:0006813 potassium ion transport; TAS:ProtInc. # GO_process GO:0051260 protein homooligomerization; IEA:InterPro. # GO_process GO:0061337 cardiac conduction; TAS:Reactome. # GO_process GO:0071435 potassium ion export; IDA:BHF-UCL. # GO_process GO:0086009 membrane repolarization; IDA:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.20.120.350 -; 1. # Genevisible Q9UK17 HS # HGNC HGNC:6239 KCND3 # INTERACTION KCND3_HUMAN Q9NZI2 KCNIP1; NbExp=3; IntAct=EBI-9825212, EBI-2120635; # InterPro IPR000210 BTB/POZ_dom # InterPro IPR003131 T1-type_BTB # InterPro IPR003968 K_chnl_volt-dep_Kv # InterPro IPR003975 K_chnl_volt-dep_Kv4 # InterPro IPR004056 K_chnl_volt-dep_Kv4.3 # InterPro IPR005821 Ion_trans_dom # InterPro IPR011333 SKP1/BTB/POZ # InterPro IPR021645 Shal-type_N # InterPro IPR024587 K_chnl_volt-dep_Kv4_C # InterPro IPR027359 Channel_four-helix_dom # InterPro IPR028325 VG_K_chnl # KEGG_Brite ko04040 Ion channels # MIM 605411 gene # MIM 607346 phenotype # MIM 616399 phenotype # Organism KCND3_HUMAN Homo sapiens (Human) # Orphanet 130 Brugada syndrome # Orphanet 98772 Spinocerebellar ataxia type 19/22 # PANTHER PTHR11537 PTHR11537; 2 # PDB 1S1G X-ray; 2.60 A; A/B=29-143 # PDB 2NZ0 X-ray; 3.20 A; B/D=6-145 # PRINTS PR00169 KCHANNEL # PRINTS PR01491 KVCHANNEL # PRINTS PR01497 SHALCHANNEL # PRINTS PR01518 KV43CHANNEL # PTM KCND3_HUMAN Regulated through phosphorylation at Ser-569 by CaMK2D. {ECO 0000250}. # Pfam PF00520 Ion_trans # Pfam PF02214 BTB_2 # Pfam PF11601 Shal-type # Pfam PF11879 DUF3399 # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-1296072 Voltage gated Potassium channels # Reactome R-HSA-5576894 Phase 1 - inactivation of fast Na+ channels # RecName KCND3_HUMAN Potassium voltage-gated channel subfamily D member 3 # RefSeq NP_004971 NM_004980.4. [Q9UK17-1] # RefSeq NP_751948 NM_172198.2. [Q9UK17-2] # RefSeq XP_005270908 XM_005270851.4. [Q9UK17-1] # RefSeq XP_006710692 XM_006710629.3. [Q9UK17-1] # RefSeq XP_006710693 XM_006710630.3. [Q9UK17-2] # RefSeq XP_016856733 XM_017001244.1. [Q9UK17-1] # SIMILARITY Belongs to the potassium channel family. D (Shal) (TC 1.A.1.2) subfamily. Kv4.3/KCND3 sub-subfamily. {ECO 0000305}. # SMART SM00225 BTB # SUBCELLULAR LOCATION KCND3_HUMAN Cell membrane {ECO 0000250|UniProtKB Q62897}; Multi-pass membrane protein {ECO 0000255}. Cell membrane, sarcolemma {ECO 0000250|UniProtKB Q62897}; Multi-pass membrane protein {ECO 0000255}. Cell projection, dendrite {ECO 0000250|UniProtKB Q62897}. Note=Interaction with palmitoylated KCNIP2 and KCNIP3 enhances cell surface expression. {ECO 0000250|UniProtKB Q62897}. # SUBUNIT KCND3_HUMAN Homotetramer or heterotetramer with KCND1 and/or KCND2. Associates with the regulatory subunits KCNIP1, KCNIP2, KCNIP3 and KCNIP4 (By similarity). Interacts with KCNE1, KCNE2, SCN1B and KCNAB1 and DLG1. {ECO 0000250, ECO 0000269|PubMed 12297301, ECO 0000269|PubMed 14980207, ECO 0000269|PubMed 17187064, ECO 0000269|PubMed 19213956}. # SUPFAM SSF54695 SSF54695 # TCDB 1.A.1.2.19 the voltage-gated ion channel (vic) superfamily # TISSUE SPECIFICITY KCND3_HUMAN Highly expressed in heart and brain, in particular in cortex, cerebellum, amygdala and caudate nucleus. Detected at lower levels in liver, skeletal muscle, kidney and pancreas. Isoform 1 predominates in most tissues. Isoform 1 and isoform 2 are detected at similar levels in brain, skeletal muscle and pancreas. {ECO 0000269|PubMed 10200233, ECO 0000269|PubMed 10729221, ECO 0000269|PubMed 9843794}. # UCSC uc001ebu human. [Q9UK17-1] # WEB RESOURCE KCND3_HUMAN Name=Potassium voltage-gated channel, Shal-related subfamily, member 3 (KCND3); Note=Leiden Open Variation Database (LOVD); URL="http //www.lovd.nl/KCND3"; # eggNOG COG1226 LUCA # eggNOG KOG4390 Eukaryota BLAST swissprot:KCND3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCND3_HUMAN COXPRESdb 3752 http://coxpresdb.jp/data/gene/3752.shtml CleanEx HS_KCND3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCND3 DOI 10.1002/ana.23700 http://dx.doi.org/10.1002/ana.23700 DOI 10.1002/ana.23701 http://dx.doi.org/10.1002/ana.23701 DOI 10.1002/humu.22058 http://dx.doi.org/10.1002/humu.22058 DOI 10.1006/geno.2000.6117 http://dx.doi.org/10.1006/geno.2000.6117 DOI 10.1016/S0014-5793(02)03296-9 http://dx.doi.org/10.1016/S0014-5793(02)03296-9 DOI 10.1016/S0896-6273(04)00049-2 http://dx.doi.org/10.1016/S0896-6273(04)00049-2 DOI 10.1016/j.hrthm.2011.02.021 http://dx.doi.org/10.1016/j.hrthm.2011.02.021 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1038/nn1822 http://dx.doi.org/10.1038/nn1822 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1133427 http://dx.doi.org/10.1126/science.1133427 DOI 10.1161/CIRCRESAHA.108.191007 http://dx.doi.org/10.1161/CIRCRESAHA.108.191007 DrugBank DB00280 http://www.drugbank.ca/drugs/DB00280 DrugBank DB00321 http://www.drugbank.ca/drugs/DB00321 DrugBank DB00458 http://www.drugbank.ca/drugs/DB00458 DrugBank DB06637 http://www.drugbank.ca/drugs/DB06637 EMBL AF048712 http://www.ebi.ac.uk/ena/data/view/AF048712 EMBL AF048713 http://www.ebi.ac.uk/ena/data/view/AF048713 EMBL AF120491 http://www.ebi.ac.uk/ena/data/view/AF120491 EMBL AF166009 http://www.ebi.ac.uk/ena/data/view/AF166009 EMBL AF166009 http://www.ebi.ac.uk/ena/data/view/AF166009 EMBL AF166010 http://www.ebi.ac.uk/ena/data/view/AF166010 EMBL AF166010 http://www.ebi.ac.uk/ena/data/view/AF166010 EMBL AF166011 http://www.ebi.ac.uk/ena/data/view/AF166011 EMBL AF166011 http://www.ebi.ac.uk/ena/data/view/AF166011 EMBL AF187963 http://www.ebi.ac.uk/ena/data/view/AF187963 EMBL AF187964 http://www.ebi.ac.uk/ena/data/view/AF187964 EMBL AF205856 http://www.ebi.ac.uk/ena/data/view/AF205856 EMBL AF205857 http://www.ebi.ac.uk/ena/data/view/AF205857 EMBL AL049557 http://www.ebi.ac.uk/ena/data/view/AL049557 EMBL AL049557 http://www.ebi.ac.uk/ena/data/view/AL049557 EMBL AL049557 http://www.ebi.ac.uk/ena/data/view/AL049557 EMBL AL450997 http://www.ebi.ac.uk/ena/data/view/AL450997 EMBL AL450997 http://www.ebi.ac.uk/ena/data/view/AL450997 EMBL AL450997 http://www.ebi.ac.uk/ena/data/view/AL450997 EMBL AL512665 http://www.ebi.ac.uk/ena/data/view/AL512665 EMBL AL512665 http://www.ebi.ac.uk/ena/data/view/AL512665 EMBL AL512665 http://www.ebi.ac.uk/ena/data/view/AL512665 EMBL BC113475 http://www.ebi.ac.uk/ena/data/view/BC113475 EMBL BC113477 http://www.ebi.ac.uk/ena/data/view/BC113477 EMBL CH471122 http://www.ebi.ac.uk/ena/data/view/CH471122 Ensembl ENST00000302127 http://www.ensembl.org/id/ENST00000302127 Ensembl ENST00000315987 http://www.ensembl.org/id/ENST00000315987 Ensembl ENST00000369697 http://www.ensembl.org/id/ENST00000369697 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0008076 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008076 GO_component GO:0030425 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030425 GO_component GO:0042383 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042383 GO_function GO:0005250 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005250 GO_function GO:0044325 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044325 GO_function GO:0046872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046872 GO_process GO:0006813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006813 GO_process GO:0051260 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051260 GO_process GO:0061337 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061337 GO_process GO:0071435 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071435 GO_process GO:0086009 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086009 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.20.120.350 http://www.cathdb.info/version/latest/superfamily/1.20.120.350 GeneCards KCND3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCND3 GeneID 3752 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=3752 GeneTree ENSGT00760000118846 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118846 HGNC HGNC:6239 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6239 HOVERGEN HBG106687 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG106687&db=HOVERGEN HPA HPA029452 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA029452 InParanoid Q9UK17 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9UK17 IntAct Q9UK17 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9UK17* InterPro IPR000210 http://www.ebi.ac.uk/interpro/entry/IPR000210 InterPro IPR003131 http://www.ebi.ac.uk/interpro/entry/IPR003131 InterPro IPR003968 http://www.ebi.ac.uk/interpro/entry/IPR003968 InterPro IPR003975 http://www.ebi.ac.uk/interpro/entry/IPR003975 InterPro IPR004056 http://www.ebi.ac.uk/interpro/entry/IPR004056 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR011333 http://www.ebi.ac.uk/interpro/entry/IPR011333 InterPro IPR021645 http://www.ebi.ac.uk/interpro/entry/IPR021645 InterPro IPR024587 http://www.ebi.ac.uk/interpro/entry/IPR024587 InterPro IPR027359 http://www.ebi.ac.uk/interpro/entry/IPR027359 InterPro IPR028325 http://www.ebi.ac.uk/interpro/entry/IPR028325 Jabion 3752 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=3752 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:3752 http://www.genome.jp/dbget-bin/www_bget?hsa:3752 KEGG_Orthology KO:K04893 http://www.genome.jp/dbget-bin/www_bget?KO:K04893 MIM 605411 http://www.ncbi.nlm.nih.gov/omim/605411 MIM 607346 http://www.ncbi.nlm.nih.gov/omim/607346 MIM 616399 http://www.ncbi.nlm.nih.gov/omim/616399 OMA PNQKEVP http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=PNQKEVP Orphanet 130 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=130 Orphanet 98772 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=98772 OrthoDB EOG091G18X0 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G18X0 PANTHER PTHR11537 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11537 PDB 1S1G http://www.ebi.ac.uk/pdbe-srv/view/entry/1S1G PDB 2NZ0 http://www.ebi.ac.uk/pdbe-srv/view/entry/2NZ0 PDBsum 1S1G http://www.ebi.ac.uk/pdbsum/1S1G PDBsum 2NZ0 http://www.ebi.ac.uk/pdbsum/2NZ0 PRINTS PR00169 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00169 PRINTS PR01491 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01491 PRINTS PR01497 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01497 PRINTS PR01518 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01518 PSORT swissprot:KCND3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCND3_HUMAN PSORT-B swissprot:KCND3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCND3_HUMAN PSORT2 swissprot:KCND3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCND3_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF02214 http://pfam.xfam.org/family/PF02214 Pfam PF11601 http://pfam.xfam.org/family/PF11601 Pfam PF11879 http://pfam.xfam.org/family/PF11879 PharmGKB PA210 http://www.pharmgkb.org/do/serve?objId=PA210&objCls=Gene Phobius swissprot:KCND3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCND3_HUMAN PhylomeDB Q9UK17 http://phylomedb.org/?seqid=Q9UK17 ProteinModelPortal Q9UK17 http://www.proteinmodelportal.org/query/uniprot/Q9UK17 PubMed 10200233 http://www.ncbi.nlm.nih.gov/pubmed/10200233 PubMed 10729221 http://www.ncbi.nlm.nih.gov/pubmed/10729221 PubMed 12297301 http://www.ncbi.nlm.nih.gov/pubmed/12297301 PubMed 14980207 http://www.ncbi.nlm.nih.gov/pubmed/14980207 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 16959974 http://www.ncbi.nlm.nih.gov/pubmed/16959974 PubMed 17187064 http://www.ncbi.nlm.nih.gov/pubmed/17187064 PubMed 19213956 http://www.ncbi.nlm.nih.gov/pubmed/19213956 PubMed 21349352 http://www.ncbi.nlm.nih.gov/pubmed/21349352 PubMed 22457051 http://www.ncbi.nlm.nih.gov/pubmed/22457051 PubMed 23280837 http://www.ncbi.nlm.nih.gov/pubmed/23280837 PubMed 23280838 http://www.ncbi.nlm.nih.gov/pubmed/23280838 PubMed 9843794 http://www.ncbi.nlm.nih.gov/pubmed/9843794 Reactome R-HSA-1296072 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1296072 Reactome R-HSA-5576894 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576894 RefSeq NP_004971 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004971 RefSeq NP_751948 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_751948 RefSeq XP_005270908 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005270908 RefSeq XP_006710692 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006710692 RefSeq XP_006710693 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006710693 RefSeq XP_016856733 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016856733 SMART SM00225 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00225 SMR Q9UK17 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9UK17 STRING 9606.ENSP00000319591 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000319591&targetmode=cogs SUPFAM SSF54695 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF54695 TCDB 1.A.1.2.19 http://www.tcdb.org/search/result.php?tc=1.A.1.2.19 UCSC uc001ebu http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001ebu&org=rat UniGene Hs.666367 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.666367 UniGene Hs.730579 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.730579 UniProtKB KCND3_HUMAN http://www.uniprot.org/uniprot/KCND3_HUMAN UniProtKB-AC Q9UK17 http://www.uniprot.org/uniprot/Q9UK17 charge swissprot:KCND3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCND3_HUMAN eggNOG COG1226 http://eggnogapi.embl.de/nog_data/html/tree/COG1226 eggNOG KOG4390 http://eggnogapi.embl.de/nog_data/html/tree/KOG4390 epestfind swissprot:KCND3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCND3_HUMAN garnier swissprot:KCND3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCND3_HUMAN helixturnhelix swissprot:KCND3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCND3_HUMAN hmoment swissprot:KCND3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCND3_HUMAN iep swissprot:KCND3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCND3_HUMAN inforesidue swissprot:KCND3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCND3_HUMAN neXtProt NX_Q9UK17 http://www.nextprot.org/db/entry/NX_Q9UK17 octanol swissprot:KCND3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCND3_HUMAN pepcoil swissprot:KCND3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCND3_HUMAN pepdigest swissprot:KCND3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCND3_HUMAN pepinfo swissprot:KCND3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCND3_HUMAN pepnet swissprot:KCND3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCND3_HUMAN pepstats swissprot:KCND3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCND3_HUMAN pepwheel swissprot:KCND3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCND3_HUMAN pepwindow swissprot:KCND3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCND3_HUMAN sigcleave swissprot:KCND3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCND3_HUMAN ## Database ID URL or Descriptions # AltName S39A7_HUMAN Histidine-rich membrane protein Ke4 # AltName S39A7_HUMAN Really interesting new gene 5 protein # AltName S39A7_HUMAN Solute carrier family 39 member 7 # AltName S39A7_HUMAN Zrt-, Irt-like protein 7 # BioGrid 113652 19 # ChiTaRS SLC39A7 human # Ensembl ENST00000374675 ENSP00000363807; ENSG00000112473 # Ensembl ENST00000374677 ENSP00000363809; ENSG00000112473 # Ensembl ENST00000383213 ENSP00000372700; ENSG00000206288 # Ensembl ENST00000383214 ENSP00000372701; ENSG00000206288 # Ensembl ENST00000416369 ENSP00000403583; ENSG00000229802 # Ensembl ENST00000418477 ENSP00000416439; ENSG00000226614 # Ensembl ENST00000423043 ENSP00000389623; ENSG00000226614 # Ensembl ENST00000431735 ENSP00000410656; ENSG00000224399 # Ensembl ENST00000441854 ENSP00000391735; ENSG00000229802 # Ensembl ENST00000441953 ENSP00000413027; ENSG00000224399 # Ensembl ENST00000443773 ENSP00000407093; ENSG00000227402 # Ensembl ENST00000456261 ENSP00000414145; ENSG00000227402 # ExpressionAtlas Q92504 baseline and differential # FUNCTION S39A7_HUMAN Zinc transporter, that transports Zn(2+) from the endoplasmic reticulum/Golgi apparatus to the cytosol. Transport is stimulated by growth factors, such as EGF, and Ca(2+), as well as by exogenous Zn(2+). {ECO 0000269|PubMed 14525538, ECO 0000269|PubMed 15705588, ECO 0000269|PubMed 22317921}. # GO_component GO:0005654 nucleoplasm; IDA:HPA. # GO_component GO:0005783 endoplasmic reticulum; IDA:HPA. # GO_component GO:0005789 endoplasmic reticulum membrane; TAS:Reactome. # GO_component GO:0005794 Golgi apparatus; IEA:UniProtKB-SubCell. # GO_component GO:0016020 membrane; TAS:ProtInc. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0005385 zinc ion transmembrane transporter activity; IBA:GO_Central. # GO_process GO:0006882 cellular zinc ion homeostasis; IBA:GO_Central. # GO_process GO:0071577 zinc II ion transmembrane transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005654 nucleoplasm # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_component GO:0005794 Golgi apparatus # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Genevisible Q92504 HS # HGNC HGNC:4927 SLC39A7 # INDUCTION Down-regulated by Zn(+2). {ECO:0000269|PubMed 15705588}. # INTERACTION S39A7_HUMAN P68400 CSNK2A1; NbExp=4; IntAct=EBI-1051105, EBI-347804; # IntAct Q92504 19 # InterPro IPR003689 ZIP # KEGG_Brite ko02001 Solute carrier family # MIM 601416 gene # Organism S39A7_HUMAN Homo sapiens (Human) # PTM S39A7_HUMAN Rapidly phosphorylated by CK2 following Zn(2+) treatment. This phosphorylation is required for efficient cytosolic Zn(2+) release. {ECO 0000269|PubMed 22317921}. # Pfam PF02535 Zip # Proteomes UP000005640 Chromosome 6 # Reactome R-HSA-442380 Zinc influx into cells by the SLC39 gene family # RecName S39A7_HUMAN Zinc transporter SLC39A7 # RefSeq NP_001070984 NM_001077516.1 # RefSeq NP_001275706 NM_001288777.1 # RefSeq NP_008910 NM_006979.2 # SIMILARITY Belongs to the ZIP transporter (TC 2.A.5) family. KE4/Catsup subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION S39A7_HUMAN Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus, cis-Golgi network membrane. # TCDB 2.A.5.4 the zinc (zn(2+))-iron (fe(2+)) permease (zip) family # TISSUE SPECIFICITY S39A7_HUMAN Widely expressed. {ECO 0000269|PubMed 14525538, ECO 0000269|PubMed 15705588}. # UCSC uc003odf human # eggNOG COG0428 LUCA # eggNOG KOG2693 Eukaryota BLAST swissprot:S39A7_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S39A7_HUMAN BioCyc ZFISH:ENSG00000112473-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000112473-MONOMER COG COG0428 http://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=COG0428 COXPRESdb 7922 http://coxpresdb.jp/data/gene/7922.shtml CleanEx HS_SLC39A7 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC39A7 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1006/geno.1996.0405 http://dx.doi.org/10.1006/geno.1996.0405 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/pr0704130 http://dx.doi.org/10.1021/pr0704130 DOI 10.1038/nature02055 http://dx.doi.org/10.1038/nature02055 DOI 10.1042/BJ20031183 http://dx.doi.org/10.1042/BJ20031183 DOI 10.1074/jbc.M412188200 http://dx.doi.org/10.1074/jbc.M412188200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 DOI 10.1126/scisignal.2002585 http://dx.doi.org/10.1126/scisignal.2002585 EMBL AF117221 http://www.ebi.ac.uk/ena/data/view/AF117221 EMBL AL031228 http://www.ebi.ac.uk/ena/data/view/AL031228 EMBL AL645940 http://www.ebi.ac.uk/ena/data/view/AL645940 EMBL AL662824 http://www.ebi.ac.uk/ena/data/view/AL662824 EMBL AL844527 http://www.ebi.ac.uk/ena/data/view/AL844527 EMBL BC000645 http://www.ebi.ac.uk/ena/data/view/BC000645 EMBL CH471081 http://www.ebi.ac.uk/ena/data/view/CH471081 EMBL CR354565 http://www.ebi.ac.uk/ena/data/view/CR354565 EMBL CR759733 http://www.ebi.ac.uk/ena/data/view/CR759733 EMBL CR759786 http://www.ebi.ac.uk/ena/data/view/CR759786 EMBL CR759786 http://www.ebi.ac.uk/ena/data/view/CR759786 EMBL CR936877 http://www.ebi.ac.uk/ena/data/view/CR936877 EMBL CR936877 http://www.ebi.ac.uk/ena/data/view/CR936877 EMBL D82060 http://www.ebi.ac.uk/ena/data/view/D82060 Ensembl ENST00000374675 http://www.ensembl.org/id/ENST00000374675 Ensembl ENST00000374677 http://www.ensembl.org/id/ENST00000374677 Ensembl ENST00000383213 http://www.ensembl.org/id/ENST00000383213 Ensembl ENST00000383214 http://www.ensembl.org/id/ENST00000383214 Ensembl ENST00000416369 http://www.ensembl.org/id/ENST00000416369 Ensembl ENST00000418477 http://www.ensembl.org/id/ENST00000418477 Ensembl ENST00000423043 http://www.ensembl.org/id/ENST00000423043 Ensembl ENST00000431735 http://www.ensembl.org/id/ENST00000431735 Ensembl ENST00000441854 http://www.ensembl.org/id/ENST00000441854 Ensembl ENST00000441953 http://www.ensembl.org/id/ENST00000441953 Ensembl ENST00000443773 http://www.ensembl.org/id/ENST00000443773 Ensembl ENST00000456261 http://www.ensembl.org/id/ENST00000456261 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GO_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GO_component GO:0005789 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005789 GO_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005385 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005385 GO_process GO:0006882 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006882 GO_process GO:0071577 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071577 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC39A7 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC39A7 GeneID 7922 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=7922 GeneTree ENSGT00760000119115 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119115 HGNC HGNC:4927 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:4927 HOGENOM HOG000185308 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000185308&db=HOGENOM6 HOVERGEN HBG001037 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG001037&db=HOVERGEN HPA HPA053999 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA053999 InParanoid Q92504 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q92504 IntAct Q92504 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q92504* InterPro IPR003689 http://www.ebi.ac.uk/interpro/entry/IPR003689 Jabion 7922 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=7922 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:7922 http://www.genome.jp/dbget-bin/www_bget?hsa:7922 KEGG_Orthology KO:K14713 http://www.genome.jp/dbget-bin/www_bget?KO:K14713 MIM 601416 http://www.ncbi.nlm.nih.gov/omim/601416 OMA QEDFHGH http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=QEDFHGH OrthoDB EOG091G0GD1 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0GD1 PSORT swissprot:S39A7_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S39A7_HUMAN PSORT-B swissprot:S39A7_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S39A7_HUMAN PSORT2 swissprot:S39A7_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S39A7_HUMAN Pfam PF02535 http://pfam.xfam.org/family/PF02535 PharmGKB PA29305 http://www.pharmgkb.org/do/serve?objId=PA29305&objCls=Gene Phobius swissprot:S39A7_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S39A7_HUMAN PhylomeDB Q92504 http://phylomedb.org/?seqid=Q92504 ProteinModelPortal Q92504 http://www.proteinmodelportal.org/query/uniprot/Q92504 PubMed 14525538 http://www.ncbi.nlm.nih.gov/pubmed/14525538 PubMed 14574404 http://www.ncbi.nlm.nih.gov/pubmed/14574404 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15705588 http://www.ncbi.nlm.nih.gov/pubmed/15705588 PubMed 18088087 http://www.ncbi.nlm.nih.gov/pubmed/18088087 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 22317921 http://www.ncbi.nlm.nih.gov/pubmed/22317921 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 8812499 http://www.ncbi.nlm.nih.gov/pubmed/8812499 Reactome R-HSA-442380 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-442380 RefSeq NP_001070984 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001070984 RefSeq NP_001275706 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001275706 RefSeq NP_008910 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_008910 STRING 9606.ENSP00000363807 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000363807&targetmode=cogs STRING COG0428 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=COG0428&targetmode=cogs TCDB 2.A.5.4 http://www.tcdb.org/search/result.php?tc=2.A.5.4 UCSC uc003odf http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003odf&org=rat UniGene Hs.631995 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.631995 UniProtKB S39A7_HUMAN http://www.uniprot.org/uniprot/S39A7_HUMAN UniProtKB-AC Q92504 http://www.uniprot.org/uniprot/Q92504 charge swissprot:S39A7_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S39A7_HUMAN eggNOG COG0428 http://eggnogapi.embl.de/nog_data/html/tree/COG0428 eggNOG KOG2693 http://eggnogapi.embl.de/nog_data/html/tree/KOG2693 epestfind swissprot:S39A7_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S39A7_HUMAN garnier swissprot:S39A7_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S39A7_HUMAN helixturnhelix swissprot:S39A7_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S39A7_HUMAN hmoment swissprot:S39A7_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S39A7_HUMAN iep swissprot:S39A7_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S39A7_HUMAN inforesidue swissprot:S39A7_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S39A7_HUMAN neXtProt NX_Q92504 http://www.nextprot.org/db/entry/NX_Q92504 octanol swissprot:S39A7_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S39A7_HUMAN pepcoil swissprot:S39A7_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S39A7_HUMAN pepdigest swissprot:S39A7_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S39A7_HUMAN pepinfo swissprot:S39A7_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S39A7_HUMAN pepnet swissprot:S39A7_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S39A7_HUMAN pepstats swissprot:S39A7_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S39A7_HUMAN pepwheel swissprot:S39A7_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S39A7_HUMAN pepwindow swissprot:S39A7_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S39A7_HUMAN sigcleave swissprot:S39A7_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S39A7_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS NLS1_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q8NA29-1; Sequence=Displayed; Name=2; IsoId=Q8NA29-2; Sequence=VSP_022539; Name=3; IsoId=Q8NA29-3; Sequence=VSP_022540; Note=No experimental confirmation available.; # AltName NLS1_HUMAN Major facilitator superfamily domain-containing protein 2A # CCDS CCDS44118 -. [Q8NA29-1] # CCDS CCDS446 -. [Q8NA29-2] # ChiTaRS MFSD2A human # DISEASE NLS1_HUMAN Microcephaly 15, primary, autosomal recessive (MCPH15) [MIM 616486] A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. {ECO 0000269|PubMed 26005865, ECO 0000269|PubMed 26005868}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000372809 ENSP00000361895; ENSG00000168389. [Q8NA29-1] # Ensembl ENST00000372811 ENSP00000361898; ENSG00000168389. [Q8NA29-2] # ExpressionAtlas Q8NA29 baseline and differential # FUNCTION NLS1_HUMAN Sodium-dependent lysophosphatidylcholine (LPC) symporter, which plays an essential role for blood-brain barrier formation and function. Specifically expressed in endothelium of the blood-brain barrier of micro-vessels and transports LPC into the brain. Transport of LPC is essential because it constitutes the major mechanism by which docosahexaenoic acid (DHA), an omega- 3 fatty acid that is essential for normal brain growth and cognitive function, enters the brain. Transports LPC carrying long-chain fatty acids such LPC oleate and LPC palmitate with a minimum acyl chain length of 14 carbons. Does not transport docosahexaenoic acid in unesterified fatty acid. Specifically required for blood-brain barrier formation and function, probably by mediating lipid transport. Not required for central nervous system vascular morphogenesis (By similarity). Acts as a transporter for tunicamycin, an inhibitor of asparagine-linked glycosylation. In placenta, acts as a receptor for ERVFRD- 1/syncytin-2 and is required for trophoblast fusion (PubMed 18988732). {ECO 0000250|UniProtKB Q9DA75, ECO 0000269|PubMed 18988732, ECO 0000269|PubMed 21677192, ECO 0000269|PubMed 23177091, ECO 0000269|PubMed 26005868}. # GO_component GO:0005737 cytoplasm; IDA:HPA. # GO_component GO:0005789 endoplasmic reticulum membrane; IEA:UniProtKB-SubCell. # GO_component GO:0005886 plasma membrane; IDA:HPA. # GO_component GO:0005887 integral component of plasma membrane; ISS:UniProtKB. # GO_function GO:0005548 phospholipid transporter activity; ISS:UniProtKB. # GO_function GO:0015245 fatty acid transporter activity; ISS:BHF-UCL. # GO_function GO:0015293 symporter activity; ISS:UniProtKB. # GO_function GO:0051978 lysophospholipid transporter activity; IDA:BHF-UCL. # GO_process GO:0015908 fatty acid transport; ISS:UniProtKB. # GO_process GO:0021766 hippocampus development; ISS:BHF-UCL. # GO_process GO:0045056 transcytosis; ISS:UniProtKB. # GO_process GO:0051977 lysophospholipid transport; IDA:BHF-UCL. # GO_process GO:0060856 establishment of blood-brain barrier; ISS:UniProtKB. # GO_process GO:1990379 lipid transport across blood brain barrier; ISS:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0016192 vesicle-mediated transport # GOslim_process GO:0048856 anatomical structure development # Genevisible Q8NA29 HS # HGNC HGNC:25897 MFSD2A # InterPro IPR020846 MFS_dom # MIM 614397 gene # MIM 616486 phenotype # Organism NLS1_HUMAN Homo sapiens (Human) # PTM NLS1_HUMAN N-glycosylated. {ECO 0000269|PubMed 21677192}. # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-1483191 Synthesis of PC # RecName NLS1_HUMAN Sodium-dependent lysophosphatidylcholine symporter 1 # RefSeq NP_001129965 NM_001136493.2. [Q8NA29-1] # RefSeq NP_001274737 NM_001287808.1 # RefSeq NP_001274738 NM_001287809.1 # RefSeq NP_116182 NM_032793.4. [Q8NA29-2] # SIMILARITY Belongs to the major facilitator superfamily. {ECO 0000305}. # SUBCELLULAR LOCATION NLS1_HUMAN Cell membrane {ECO 0000269|PubMed 26005868}; Multi-pass membrane protein {ECO 0000255}. Endoplasmic reticulum membrane {ECO 0000250|UniProtKB Q9DA75}; Multi-pass membrane protein {ECO 0000255}. Note=Cytoplasmic punctae that may represent vesicles shuttling between the endoplasmic reticulum and the plasma membrane (PubMed 21677192). {ECO 0000269|PubMed 21677192}. # SUBUNIT Interacts with ERVFRD-1/syncytin-2. {ECO:0000269|PubMed 18988732}. # SUPFAM SSF103473 SSF103473; 2 # TCDB 2.A.2.3:the glycoside-pentoside-hexuronide (gph) cation symporter family # TISSUE SPECIFICITY In placenta, associated with trophoblast cells. {ECO:0000269|PubMed 18988732}. # UCSC uc001ceu human. [Q8NA29-1] # eggNOG COG2211 LUCA # eggNOG KOG4830 Eukaryota BLAST swissprot:NLS1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:NLS1_HUMAN BioCyc ZFISH:ENSG00000168389-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000168389-MONOMER COXPRESdb 84879 http://coxpresdb.jp/data/gene/84879.shtml CleanEx HS_MFSD2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_MFSD2 DIP DIP-47306N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-47306N DOI 10.1016/j.placenta.2012.10.012 http://dx.doi.org/10.1016/j.placenta.2012.10.012 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1038/ng.3311 http://dx.doi.org/10.1038/ng.3311 DOI 10.1038/ng.3313 http://dx.doi.org/10.1038/ng.3313 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1038/sj.onc.1207782 http://dx.doi.org/10.1038/sj.onc.1207782 DOI 10.1042/BJ20080165 http://dx.doi.org/10.1042/BJ20080165 DOI 10.1073/pnas.0404089101 http://dx.doi.org/10.1073/pnas.0404089101 DOI 10.1073/pnas.0807413105 http://dx.doi.org/10.1073/pnas.0807413105 DOI 10.1073/pnas.1018098108 http://dx.doi.org/10.1073/pnas.1018098108 DOI 10.1093/dnares/12.2.117 http://dx.doi.org/10.1093/dnares/12.2.117 DOI 10.1101/gr.1293003 http://dx.doi.org/10.1101/gr.1293003 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AB073383 http://www.ebi.ac.uk/ena/data/view/AB073383 EMBL AF289609 http://www.ebi.ac.uk/ena/data/view/AF289609 EMBL AK075183 http://www.ebi.ac.uk/ena/data/view/AK075183 EMBL AK093223 http://www.ebi.ac.uk/ena/data/view/AK093223 EMBL AK291540 http://www.ebi.ac.uk/ena/data/view/AK291540 EMBL AL663070 http://www.ebi.ac.uk/ena/data/view/AL663070 EMBL AL663070 http://www.ebi.ac.uk/ena/data/view/AL663070 EMBL AY358636 http://www.ebi.ac.uk/ena/data/view/AY358636 EMBL BC006353 http://www.ebi.ac.uk/ena/data/view/BC006353 EMBL BC011587 http://www.ebi.ac.uk/ena/data/view/BC011587 EMBL BC092414 http://www.ebi.ac.uk/ena/data/view/BC092414 EMBL CH471059 http://www.ebi.ac.uk/ena/data/view/CH471059 Ensembl ENST00000372809 http://www.ensembl.org/id/ENST00000372809 Ensembl ENST00000372811 http://www.ensembl.org/id/ENST00000372811 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005789 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005789 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0005548 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005548 GO_function GO:0015245 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015245 GO_function GO:0015293 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015293 GO_function GO:0051978 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051978 GO_process GO:0015908 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015908 GO_process GO:0021766 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021766 GO_process GO:0045056 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045056 GO_process GO:0051977 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051977 GO_process GO:0060856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060856 GO_process GO:1990379 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1990379 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0016192 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016192 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GeneCards MFSD2A http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=MFSD2A GeneID 84879 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=84879 GeneTree ENSGT00390000005318 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000005318 HGNC HGNC:25897 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:25897 HOGENOM HOG000294186 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000294186&db=HOGENOM6 HOVERGEN HBG080097 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG080097&db=HOVERGEN HPA HPA043107 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA043107 InParanoid Q8NA29 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8NA29 IntAct Q8NA29 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q8NA29* InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 84879 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=84879 KEGG_Gene hsa:84879 http://www.genome.jp/dbget-bin/www_bget?hsa:84879 MIM 614397 http://www.ncbi.nlm.nih.gov/omim/614397 MIM 616486 http://www.ncbi.nlm.nih.gov/omim/616486 OMA AWISSIV http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=AWISSIV OrthoDB EOG091G06N1 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G06N1 PSORT swissprot:NLS1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:NLS1_HUMAN PSORT-B swissprot:NLS1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:NLS1_HUMAN PSORT2 swissprot:NLS1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:NLS1_HUMAN PharmGKB PA165751549 http://www.pharmgkb.org/do/serve?objId=PA165751549&objCls=Gene Phobius swissprot:NLS1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:NLS1_HUMAN PhylomeDB Q8NA29 http://phylomedb.org/?seqid=Q8NA29 ProteinModelPortal Q8NA29 http://www.proteinmodelportal.org/query/uniprot/Q8NA29 PubMed 12975309 http://www.ncbi.nlm.nih.gov/pubmed/12975309 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15221005 http://www.ncbi.nlm.nih.gov/pubmed/15221005 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15498874 http://www.ncbi.nlm.nih.gov/pubmed/15498874 PubMed 16303743 http://www.ncbi.nlm.nih.gov/pubmed/16303743 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 18694395 http://www.ncbi.nlm.nih.gov/pubmed/18694395 PubMed 18988732 http://www.ncbi.nlm.nih.gov/pubmed/18988732 PubMed 21677192 http://www.ncbi.nlm.nih.gov/pubmed/21677192 PubMed 23177091 http://www.ncbi.nlm.nih.gov/pubmed/23177091 PubMed 26005865 http://www.ncbi.nlm.nih.gov/pubmed/26005865 PubMed 26005868 http://www.ncbi.nlm.nih.gov/pubmed/26005868 Reactome R-HSA-1483191 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1483191 RefSeq NP_001129965 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001129965 RefSeq NP_001274737 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001274737 RefSeq NP_001274738 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001274738 RefSeq NP_116182 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_116182 STRING 9606.ENSP00000361895 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000361895&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.2.3 http://www.tcdb.org/search/result.php?tc=2.A.2.3 UCSC uc001ceu http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001ceu&org=rat UniGene Hs.655177 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.655177 UniProtKB NLS1_HUMAN http://www.uniprot.org/uniprot/NLS1_HUMAN UniProtKB-AC Q8NA29 http://www.uniprot.org/uniprot/Q8NA29 charge swissprot:NLS1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:NLS1_HUMAN eggNOG COG2211 http://eggnogapi.embl.de/nog_data/html/tree/COG2211 eggNOG KOG4830 http://eggnogapi.embl.de/nog_data/html/tree/KOG4830 epestfind swissprot:NLS1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:NLS1_HUMAN garnier swissprot:NLS1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:NLS1_HUMAN helixturnhelix swissprot:NLS1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:NLS1_HUMAN hmoment swissprot:NLS1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:NLS1_HUMAN iep swissprot:NLS1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:NLS1_HUMAN inforesidue swissprot:NLS1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:NLS1_HUMAN neXtProt NX_Q8NA29 http://www.nextprot.org/db/entry/NX_Q8NA29 octanol swissprot:NLS1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:NLS1_HUMAN pepcoil swissprot:NLS1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:NLS1_HUMAN pepdigest swissprot:NLS1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:NLS1_HUMAN pepinfo swissprot:NLS1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:NLS1_HUMAN pepnet swissprot:NLS1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:NLS1_HUMAN pepstats swissprot:NLS1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:NLS1_HUMAN pepwheel swissprot:NLS1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:NLS1_HUMAN pepwindow swissprot:NLS1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:NLS1_HUMAN sigcleave swissprot:NLS1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:NLS1_HUMAN ## Database ID URL or Descriptions # AltName SL9A4_HUMAN Na(+)/H(+) exchanger 4 # AltName SL9A4_HUMAN Solute carrier family 9 member 4 # BioGrid 132934 2 # CAUTION The number, localization and denomination of hydrophobic domains in the Na(+)/H(+) exchangers vary among authors. {ECO 0000305}. # Ensembl ENST00000295269 ENSP00000295269; ENSG00000180251 # FUNCTION SL9A4_HUMAN Involved in pH regulation to eliminate acids generated by active metabolism or to counter adverse environmental conditions. Major proton extruding system driven by the inward sodium ion chemical gradient. Plays an important role in signal transduction. May play a specialized role in the kidney in rectifying cell volume in response to extreme fluctuations of hyperosmolar-stimulated cell shrinkage. Is relatively amiloride and ethylisopropylamiloride (EIPA) insensitive. Can be activated under conditions of hyperosmolar-induced cell shrinkage in a sustained intracellular acidification-dependence manner. Activated by 4,4'-diisothiocyanostilbene-2,2'-disulfonic acid (DIDS) in a sustained intracellular acidification-dependence manner. Affects potassium/proton exchange as well as sodium/proton and lithium/proton exchange. In basolateral cell membrane, participates in homeostatic control of intracellular pH, and may play a role in proton extrusion in order to achieve transepithelial HCO3(-) secretion. In apical cell membrane may be involved in mediating sodium absorption. Requires for normal levels of gastric acid secretion, secretory membrane development, parietal cell maturation and/or differentiation and at least secondarily for chief cell differentiation (By similarity). {ECO 0000250}. # GO_component GO:0005886 plasma membrane; IBA:GO_Central. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0016323 basolateral plasma membrane; IEA:UniProtKB-SubCell. # GO_component GO:0016324 apical plasma membrane; IEA:UniProtKB-SubCell. # GO_function SL9A4_HUMAN GO 0015385 sodium proton antiporter activity; IBA GO_Central. # GO_function SL9A4_HUMAN GO 0015386 potassium proton antiporter activity; IBA GO_Central. # GO_process GO:0001696 gastric acid secretion; IEA:Ensembl. # GO_process GO:0002064 epithelial cell development; IEA:Ensembl. # GO_process GO:0006811 ion transport; TAS:Reactome. # GO_process GO:0051453 regulation of intracellular pH; IBA:GO_Central. # GO_process GO:0071805 potassium ion transmembrane transport; IBA:GO_Central. # GO_process GO:0098719 sodium ion import across plasma membrane; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0055085 transmembrane transport # HGNC HGNC:11077 SLC9A4 # InterPro IPR001953 Na/H_exchanger_2 # InterPro IPR004709 NaH_exchanger # InterPro IPR006153 Cation/H_exchanger # InterPro IPR018422 Cation/H_exchanger_CPA1 # InterPro IPR032103 NHE_CaM-bd # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02001 Solute carrier family # KEGG_Pathway ko04971 Gastric acid secretion # MIM 600531 gene # Organism SL9A4_HUMAN Homo sapiens (Human) # PANTHER PTHR10110 PTHR10110 # PRINTS PR01084 NAHEXCHNGR # PRINTS PR01086 NAHEXCHNGR2 # PTM SL9A4_HUMAN May be phosphorylated. {ECO 0000250}. # Pfam PF00999 Na_H_Exchanger # Pfam PF16644 NEXCaM_BD # Proteomes UP000005640 Chromosome 2 # Reactome R-HSA-425986 Sodium/Proton exchangers # RecName SL9A4_HUMAN Sodium/hydrogen exchanger 4 # RefSeq NP_001011552 NM_001011552.3 # SIMILARITY Belongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family. {ECO 0000305}. # SUBCELLULAR LOCATION SL9A4_HUMAN Apical cell membrane {ECO 0000250}; Multi- pass membrane protein {ECO 0000250}. Basolateral cell membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. Cytoplasmic granule membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. Note=Found in zymogen granule membranes. {ECO 0000250}. # SUBUNIT Interacts with CHP1 and CHP2. {ECO 0000250}. # TCDB 2.A.36.1.18:the monovalent cation proton antiporter-1 (cpa1) family # TIGRFAMs TIGR00840 b_cpa1 # UCSC uc002tbz human # eggNOG COG0025 LUCA # eggNOG KOG1966 Eukaryota BLAST swissprot:SL9A4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SL9A4_HUMAN COXPRESdb 389015 http://coxpresdb.jp/data/gene/389015.shtml CleanEx HS_SLC9A4 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC9A4 DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 EMBL AC007278 http://www.ebi.ac.uk/ena/data/view/AC007278 EMBL AL833048 http://www.ebi.ac.uk/ena/data/view/AL833048 EMBL CR627411 http://www.ebi.ac.uk/ena/data/view/CR627411 Ensembl ENST00000295269 http://www.ensembl.org/id/ENST00000295269 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0016323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016323 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_function GO:0015385 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015385 GO_function GO:0015386 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015386 GO_process GO:0001696 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001696 GO_process GO:0002064 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002064 GO_process GO:0006811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006811 GO_process GO:0051453 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051453 GO_process GO:0071805 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071805 GO_process GO:0098719 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0098719 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC9A4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC9A4 GeneID 389015 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=389015 GeneTree ENSGT00760000119074 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119074 H-InvDB HIX0017462 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0017462 HGNC HGNC:11077 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11077 HOGENOM HOG000247044 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000247044&db=HOGENOM6 HOVERGEN HBG052615 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052615&db=HOVERGEN HPA HPA036096 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA036096 InParanoid Q6AI14 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q6AI14 InterPro IPR001953 http://www.ebi.ac.uk/interpro/entry/IPR001953 InterPro IPR004709 http://www.ebi.ac.uk/interpro/entry/IPR004709 InterPro IPR006153 http://www.ebi.ac.uk/interpro/entry/IPR006153 InterPro IPR018422 http://www.ebi.ac.uk/interpro/entry/IPR018422 InterPro IPR032103 http://www.ebi.ac.uk/interpro/entry/IPR032103 Jabion 389015 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=389015 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:389015 http://www.genome.jp/dbget-bin/www_bget?hsa:389015 KEGG_Orthology KO:K13961 http://www.genome.jp/dbget-bin/www_bget?KO:K13961 KEGG_Pathway ko04971 http://www.genome.jp/kegg-bin/show_pathway?ko04971 MIM 600531 http://www.ncbi.nlm.nih.gov/omim/600531 OMA LAFCQIW http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=LAFCQIW OrthoDB EOG091G02Q0 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G02Q0 PANTHER PTHR10110 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10110 PRINTS PR01084 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01084 PRINTS PR01086 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01086 PSORT swissprot:SL9A4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SL9A4_HUMAN PSORT-B swissprot:SL9A4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SL9A4_HUMAN PSORT2 swissprot:SL9A4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SL9A4_HUMAN Pfam PF00999 http://pfam.xfam.org/family/PF00999 Pfam PF16644 http://pfam.xfam.org/family/PF16644 PharmGKB PA35933 http://www.pharmgkb.org/do/serve?objId=PA35933&objCls=Gene Phobius swissprot:SL9A4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SL9A4_HUMAN PhylomeDB Q6AI14 http://phylomedb.org/?seqid=Q6AI14 ProteinModelPortal Q6AI14 http://www.proteinmodelportal.org/query/uniprot/Q6AI14 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 Reactome R-HSA-425986 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-425986 RefSeq NP_001011552 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001011552 SMR Q6AI14 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q6AI14 STRING 9606.ENSP00000295269 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000295269&targetmode=cogs TCDB 2.A.36.1.18 http://www.tcdb.org/search/result.php?tc=2.A.36.1.18 TIGRFAMs TIGR00840 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00840 UCSC uc002tbz http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002tbz&org=rat UniGene Hs.447686 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.447686 UniProtKB SL9A4_HUMAN http://www.uniprot.org/uniprot/SL9A4_HUMAN UniProtKB-AC Q6AI14 http://www.uniprot.org/uniprot/Q6AI14 charge swissprot:SL9A4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SL9A4_HUMAN eggNOG COG0025 http://eggnogapi.embl.de/nog_data/html/tree/COG0025 eggNOG KOG1966 http://eggnogapi.embl.de/nog_data/html/tree/KOG1966 epestfind swissprot:SL9A4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SL9A4_HUMAN garnier swissprot:SL9A4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SL9A4_HUMAN helixturnhelix swissprot:SL9A4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SL9A4_HUMAN hmoment swissprot:SL9A4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SL9A4_HUMAN iep swissprot:SL9A4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SL9A4_HUMAN inforesidue swissprot:SL9A4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SL9A4_HUMAN neXtProt NX_Q6AI14 http://www.nextprot.org/db/entry/NX_Q6AI14 octanol swissprot:SL9A4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SL9A4_HUMAN pepcoil swissprot:SL9A4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SL9A4_HUMAN pepdigest swissprot:SL9A4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SL9A4_HUMAN pepinfo swissprot:SL9A4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SL9A4_HUMAN pepnet swissprot:SL9A4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SL9A4_HUMAN pepstats swissprot:SL9A4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SL9A4_HUMAN pepwheel swissprot:SL9A4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SL9A4_HUMAN pepwindow swissprot:SL9A4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SL9A4_HUMAN sigcleave swissprot:SL9A4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SL9A4_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS CACB3_HUMAN Event=Alternative splicing; Named isoforms=5; Name=1; Synonyms=3A; IsoId=P54284-1; Sequence=Displayed; Name=2; Synonyms=3B; IsoId=P54284-2; Sequence=VSP_000634; Name=3; IsoId=P54284-3; Sequence=VSP_046708; Note=No experimental confirmation available.; Name=4; IsoId=P54284-4; Sequence=VSP_046709; Note=No experimental confirmation available.; Name=5; IsoId=P54284-5; Sequence=VSP_046710; Note=Gene prediction based on EST data.; # AltName CACB3_HUMAN Calcium channel voltage-dependent subunit beta 3 # BioGrid 107238 10 # CCDS CCDS55821 -. [P54284-3] # CCDS CCDS55822 -. [P54284-4] # CCDS CCDS55823 -. [P54284-5] # CCDS CCDS8769 -. [P54284-1] # ChiTaRS CACNB3 human # DrugBank DB00393 Nimodipine # DrugBank DB00421 Spironolactone # DrugBank DB00661 Verapamil # DrugBank DB04855 Dronedarone # Ensembl ENST00000301050 ENSP00000301050; ENSG00000167535. [P54284-1] # Ensembl ENST00000536187 ENSP00000444160; ENSG00000167535. [P54284-4] # Ensembl ENST00000540990 ENSP00000445495; ENSG00000167535. [P54284-3] # Ensembl ENST00000547230 ENSP00000448304; ENSG00000167535. [P54284-5] # ExpressionAtlas P54284 baseline and differential # FUNCTION CACB3_HUMAN The beta subunit of voltage-dependent calcium channels contributes to the function of the calcium channel by increasing peak calcium current, shifting the voltage dependencies of activation and inactivation, modulating G protein inhibition and controlling the alpha-1 subunit membrane targeting. {ECO 0000250|UniProtKB P54287}. # GO_component GO:0005829 cytosol; TAS:Reactome. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005891 voltage-gated calcium channel complex; IDA:UniProtKB. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0016324 apical plasma membrane; IEA:Ensembl. # GO_component GO:1990454 L-type voltage-gated calcium channel complex; ISS:UniProtKB. # GO_function GO:0005245 voltage-gated calcium channel activity; TAS:ProtInc. # GO_function GO:0005262 calcium channel activity; TAS:Reactome. # GO_function GO:0008331 high voltage-gated calcium channel activity; IBA:GO_Central. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0006816 calcium ion transport; IDA:UniProtKB. # GO_process GO:0007268 chemical synaptic transmission; IBA:GO_Central. # GO_process GO:0007528 neuromuscular junction development; IBA:GO_Central. # GO_process GO:0050852 T cell receptor signaling pathway; IEA:Ensembl. # GO_process GO:0051899 membrane depolarization; TAS:Reactome. # GO_process GO:0060402 calcium ion transport into cytosol; ISS:BHF-UCL. # GO_process GO:0061337 cardiac conduction; TAS:Reactome. # GO_process GO:0061577 calcium ion transmembrane transport via high voltage-gated calcium channel; ISS:UniProtKB. # GO_process GO:0072659 protein localization to plasma membrane; ISS:BHF-UCL. # GO_process GO:0098903 regulation of membrane repolarization during action potential; ISS:BHF-UCL. # GO_process GO:1901385 regulation of voltage-gated calcium channel activity; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005829 cytosol # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0002376 immune system process # GOslim_process GO:0006810 transport # GOslim_process GO:0007009 plasma membrane organization # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 3.40.50.300 -; 1. # Genevisible P54284 HS # HGNC HGNC:1403 CACNB3 # INTERACTION CACB3_HUMAN Q5SQP8 CTBP2; NbExp=4; IntAct=EBI-1184651, EBI-11742664; # IntAct P54284 8 # InterPro IPR000584 VDCC_L_bsu # InterPro IPR001452 SH3_domain # InterPro IPR008079 VDCC_L_b3su # InterPro IPR008145 GK/Ca_channel_bsu # InterPro IPR027417 P-loop_NTPase # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04010 MAPK signaling pathway # KEGG_Pathway ko04260 Cardiac muscle contraction # KEGG_Pathway ko05410 Hypertrophic cardiomyopathy (HCM) # KEGG_Pathway ko05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC) # KEGG_Pathway ko05414 Dilated cardiomyopathy # MIM 601958 gene # Organism CACB3_HUMAN Homo sapiens (Human) # PANTHER PTHR11824 PTHR11824 # PIR S39315 S39315 # PIR S39316 S39316 # PIR S41211 S41211 # PRINTS PR01626 LCACHANNELB # PRINTS PR01696 LCACHANNELB3 # Pfam PF00625 Guanylate_kin # Pfam PF12052 VGCC_beta4Aa_N # Proteomes UP000005640 Chromosome 12 # Reactome R-HSA-112308 Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels # Reactome R-HSA-400042 Adrenaline,noradrenaline inhibits insulin secretion # Reactome R-HSA-419037 NCAM1 interactions # Reactome R-HSA-422356 Regulation of insulin secretion # Reactome R-HSA-5576892 Phase 0 - rapid depolarisation # Reactome R-HSA-5576893 Phase 2 - plateau phase # Reactome R-HSA-5576894 Phase 1 - inactivation of fast Na+ channels # RecName CACB3_HUMAN Voltage-dependent L-type calcium channel subunit beta-3 # RefSeq NP_000716 NM_000725.3. [P54284-1] # RefSeq NP_001193844 NM_001206915.1. [P54284-5] # RefSeq NP_001193845 NM_001206916.1. [P54284-4] # RefSeq NP_001193846 NM_001206917.1. [P54284-3] # SIMILARITY Belongs to the calcium channel beta subunit family. {ECO 0000305}. # SIMILARITY Contains 1 SH3 domain. {ECO 0000305}. # SMART SM00072 GuKc # SUBUNIT CACB3_HUMAN The L-type calcium channel is composed of four subunits alpha-1, alpha-2, beta and gamma (By similarity). Interacts with CACNA2D4 (PubMed 12181424). Interacts with FASLG (PubMed 19807924). Interacts with CBARP; prevents the interaction of CACNB3 with the alpha subunit CACNA1C thereby negatively regulating the activity of the corresponding calcium channel (By similarity). {ECO 0000250|UniProtKB P54287, ECO 0000269|PubMed 12181424, ECO 0000269|PubMed 19807924}. # SUPFAM SSF50044 SSF50044 # SUPFAM SSF52540 SSF52540 # TCDB 8.A.22.1 the ca(2+) channel auxiliary subunit types 1-4 (cca-) family # TISSUE SPECIFICITY CACB3_HUMAN Expressed mostly in brain, smooth muscle and ovary. # UCSC uc001rsl human. [P54284-1] # eggNOG ENOG410XRDI LUCA # eggNOG KOG3812 Eukaryota BLAST swissprot:CACB3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CACB3_HUMAN BioCyc ZFISH:ENSG00000167535-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000167535-MONOMER COXPRESdb 784 http://coxpresdb.jp/data/gene/784.shtml CleanEx HS_CACNB3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CACNB3 DIP DIP-39138N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-39138N DOI 10.1006/geno.1995.1048 http://dx.doi.org/10.1006/geno.1995.1048 DOI 10.1038/nature04569 http://dx.doi.org/10.1038/nature04569 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1432-1033.1994.tb18621.x http://dx.doi.org/10.1111/j.1432-1033.1994.tb18621.x DOI 10.1124/mol.62.3.485 http://dx.doi.org/10.1124/mol.62.3.485 DOI 10.1186/1471-2172-10-53 http://dx.doi.org/10.1186/1471-2172-10-53 DrugBank DB00393 http://www.drugbank.ca/drugs/DB00393 DrugBank DB00421 http://www.drugbank.ca/drugs/DB00421 DrugBank DB00661 http://www.drugbank.ca/drugs/DB00661 DrugBank DB04855 http://www.drugbank.ca/drugs/DB04855 EMBL AC117498 http://www.ebi.ac.uk/ena/data/view/AC117498 EMBL AK289709 http://www.ebi.ac.uk/ena/data/view/AK289709 EMBL AK297639 http://www.ebi.ac.uk/ena/data/view/AK297639 EMBL AK304537 http://www.ebi.ac.uk/ena/data/view/AK304537 EMBL AK316323 http://www.ebi.ac.uk/ena/data/view/AK316323 EMBL BC041811 http://www.ebi.ac.uk/ena/data/view/BC041811 EMBL CH471111 http://www.ebi.ac.uk/ena/data/view/CH471111 EMBL D43704 http://www.ebi.ac.uk/ena/data/view/D43704 EMBL L27584 http://www.ebi.ac.uk/ena/data/view/L27584 EMBL U07139 http://www.ebi.ac.uk/ena/data/view/U07139 EMBL X76555 http://www.ebi.ac.uk/ena/data/view/X76555 EMBL X76556 http://www.ebi.ac.uk/ena/data/view/X76556 Ensembl ENST00000301050 http://www.ensembl.org/id/ENST00000301050 Ensembl ENST00000536187 http://www.ensembl.org/id/ENST00000536187 Ensembl ENST00000540990 http://www.ensembl.org/id/ENST00000540990 Ensembl ENST00000547230 http://www.ensembl.org/id/ENST00000547230 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005891 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005891 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:1990454 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1990454 GO_function GO:0005245 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005245 GO_function GO:0005262 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005262 GO_function GO:0008331 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008331 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0006816 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006816 GO_process GO:0007268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007268 GO_process GO:0007528 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007528 GO_process GO:0050852 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050852 GO_process GO:0051899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051899 GO_process GO:0060402 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060402 GO_process GO:0061337 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061337 GO_process GO:0061577 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061577 GO_process GO:0072659 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0072659 GO_process GO:0098903 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0098903 GO_process GO:1901385 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1901385 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0002376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002376 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007009 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007009 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 3.40.50.300 http://www.cathdb.info/version/latest/superfamily/3.40.50.300 GeneCards CACNB3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CACNB3 GeneID 784 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=784 GeneTree ENSGT00390000002740 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000002740 HGNC HGNC:1403 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:1403 HOGENOM HOG000230979 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000230979&db=HOGENOM6 HOVERGEN HBG050765 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050765&db=HOVERGEN HPA HPA059515 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA059515 InParanoid P54284 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P54284 IntAct P54284 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P54284* InterPro IPR000584 http://www.ebi.ac.uk/interpro/entry/IPR000584 InterPro IPR001452 http://www.ebi.ac.uk/interpro/entry/IPR001452 InterPro IPR008079 http://www.ebi.ac.uk/interpro/entry/IPR008079 InterPro IPR008145 http://www.ebi.ac.uk/interpro/entry/IPR008145 InterPro IPR027417 http://www.ebi.ac.uk/interpro/entry/IPR027417 Jabion 784 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=784 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:784 http://www.genome.jp/dbget-bin/www_bget?hsa:784 KEGG_Orthology KO:K04864 http://www.genome.jp/dbget-bin/www_bget?KO:K04864 KEGG_Pathway ko04010 http://www.genome.jp/kegg-bin/show_pathway?ko04010 KEGG_Pathway ko04260 http://www.genome.jp/kegg-bin/show_pathway?ko04260 KEGG_Pathway ko05410 http://www.genome.jp/kegg-bin/show_pathway?ko05410 KEGG_Pathway ko05412 http://www.genome.jp/kegg-bin/show_pathway?ko05412 KEGG_Pathway ko05414 http://www.genome.jp/kegg-bin/show_pathway?ko05414 MIM 601958 http://www.ncbi.nlm.nih.gov/omim/601958 OMA NERNWQR http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=NERNWQR OrthoDB EOG091G09C1 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G09C1 PANTHER PTHR11824 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11824 PRINTS PR01626 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01626 PRINTS PR01696 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01696 PSORT swissprot:CACB3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CACB3_HUMAN PSORT-B swissprot:CACB3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CACB3_HUMAN PSORT2 swissprot:CACB3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CACB3_HUMAN Pfam PF00625 http://pfam.xfam.org/family/PF00625 Pfam PF12052 http://pfam.xfam.org/family/PF12052 PharmGKB PA89 http://www.pharmgkb.org/do/serve?objId=PA89&objCls=Gene Phobius swissprot:CACB3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CACB3_HUMAN PhylomeDB P54284 http://phylomedb.org/?seqid=P54284 ProteinModelPortal P54284 http://www.proteinmodelportal.org/query/uniprot/P54284 PubMed 12181424 http://www.ncbi.nlm.nih.gov/pubmed/12181424 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16541075 http://www.ncbi.nlm.nih.gov/pubmed/16541075 PubMed 19807924 http://www.ncbi.nlm.nih.gov/pubmed/19807924 PubMed 7557998 http://www.ncbi.nlm.nih.gov/pubmed/7557998 PubMed 8119293 http://www.ncbi.nlm.nih.gov/pubmed/8119293 Reactome R-HSA-112308 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-112308 Reactome R-HSA-400042 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-400042 Reactome R-HSA-419037 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-419037 Reactome R-HSA-422356 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-422356 Reactome R-HSA-5576892 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576892 Reactome R-HSA-5576893 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576893 Reactome R-HSA-5576894 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576894 RefSeq NP_000716 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000716 RefSeq NP_001193844 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001193844 RefSeq NP_001193845 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001193845 RefSeq NP_001193846 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001193846 SMART SM00072 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00072 SMR P54284 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P54284 STRING 9606.ENSP00000301050 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000301050&targetmode=cogs SUPFAM SSF50044 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF50044 SUPFAM SSF52540 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52540 TCDB 8.A.22.1 http://www.tcdb.org/search/result.php?tc=8.A.22.1 UCSC uc001rsl http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001rsl&org=rat UniGene Hs.250712 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.250712 UniGene Hs.737291 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.737291 UniProtKB CACB3_HUMAN http://www.uniprot.org/uniprot/CACB3_HUMAN UniProtKB-AC P54284 http://www.uniprot.org/uniprot/P54284 charge swissprot:CACB3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CACB3_HUMAN eggNOG ENOG410XRDI http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XRDI eggNOG KOG3812 http://eggnogapi.embl.de/nog_data/html/tree/KOG3812 epestfind swissprot:CACB3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CACB3_HUMAN garnier swissprot:CACB3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CACB3_HUMAN helixturnhelix swissprot:CACB3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CACB3_HUMAN hmoment swissprot:CACB3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CACB3_HUMAN iep swissprot:CACB3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CACB3_HUMAN inforesidue swissprot:CACB3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CACB3_HUMAN neXtProt NX_P54284 http://www.nextprot.org/db/entry/NX_P54284 octanol swissprot:CACB3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CACB3_HUMAN pepcoil swissprot:CACB3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CACB3_HUMAN pepdigest swissprot:CACB3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CACB3_HUMAN pepinfo swissprot:CACB3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CACB3_HUMAN pepnet swissprot:CACB3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CACB3_HUMAN pepstats swissprot:CACB3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CACB3_HUMAN pepwheel swissprot:CACB3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CACB3_HUMAN pepwindow swissprot:CACB3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CACB3_HUMAN sigcleave swissprot:CACB3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CACB3_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS TCPW_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q92526-1; Sequence=Displayed; Name=2; IsoId=Q92526-2; Sequence=VSP_043040; Note=No experimental confirmation available.; Name=3; IsoId=Q92526-3; Sequence=VSP_047129; # AltName TCPW_HUMAN CCT-zeta-2 # AltName TCPW_HUMAN CCT-zeta-like # AltName TCPW_HUMAN TCP-1-zeta-like # AltName TCPW_HUMAN Testis-specific Tcp20 # AltName TCPW_HUMAN Testis-specific protein TSA303 # BioGrid 115932 106 # CCDS CCDS32617 -. [Q92526-1] # CCDS CCDS54105 -. [Q92526-2] # CCDS CCDS54106 -. [Q92526-3] # CDD cd03342 TCP1_zeta # Ensembl ENST00000314144 ENSP00000327191; ENSG00000132141. [Q92526-1] # Ensembl ENST00000421975 ENSP00000398044; ENSG00000132141. [Q92526-3] # Ensembl ENST00000436961 ENSP00000400917; ENSG00000132141. [Q92526-2] # ExpressionAtlas Q92526 baseline and differential # FUNCTION TCPW_HUMAN Molecular chaperone; assists the folding of proteins upon ATP hydrolysis. Known to play a role, in vitro, in the folding of actin and tubulin (By similarity). {ECO 0000250}. # GO_component GO:0005737 cytoplasm; IDA:HPA. # GO_component GO:0005832 chaperonin-containing T-complex; IEA:Ensembl. # GO_function GO:0005524 ATP binding; IEA:UniProtKB-KW. # GO_function GO:0008565 protein transporter activity; TAS:ProtInc. # GO_function GO:0051082 unfolded protein binding; TAS:ProtInc. # GO_process GO:0006457 protein folding; TAS:ProtInc. # GO_process GO:0007283 spermatogenesis; TAS:ProtInc. # GO_process GO:0051131 chaperone-mediated protein complex assembly; TAS:ProtInc. # GO_process GO:1901998 toxin transport; IEA:Ensembl. # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0043234 protein complex # GOslim_function GO:0008565 protein transporter activity # GOslim_function GO:0043167 ion binding # GOslim_function GO:0051082 unfolded protein binding # GOslim_process GO:0006457 protein folding # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # Gene3D 1.10.560.10 -; 2. # Gene3D 3.30.260.10 -; 2. # Gene3D 3.50.7.10 -; 1. # Genevisible Q92526 HS # HGNC HGNC:1621 CCT6B # IntAct Q92526 6 # InterPro IPR002194 Chaperonin_TCP-1_CS # InterPro IPR002423 Cpn60/TCP-1 # InterPro IPR012722 Chap_CCT_zeta # InterPro IPR017998 Chaperone_TCP-1 # InterPro IPR027409 GroEL-like_apical_dom # InterPro IPR027410 TCP-1-like_intermed # InterPro IPR027413 GROEL-like_equatorial # KEGG_Brite ko03110 Chaperones and folding catalysts # MIM 610730 gene # Organism TCPW_HUMAN Homo sapiens (Human) # PRINTS PR00304 TCOMPLEXTCP1 # PROSITE PS00750 TCP1_1 # PROSITE PS00751 TCP1_2 # PROSITE PS00995 TCP1_3 # Pfam PF00118 Cpn60_TCP1 # Proteomes UP000005640 Chromosome 17 # Reactome R-HSA-389957 Prefoldin mediated transfer of substrate to CCT/TriC # Reactome R-HSA-389960 Formation of tubulin folding intermediates by CCT/TriC # Reactome R-HSA-390450 Folding of actin by CCT/TriC # Reactome R-HSA-390471 Association of TriC/CCT with target proteins during biosynthesis # Reactome R-HSA-6814122 Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding # RecName TCPW_HUMAN T-complex protein 1 subunit zeta-2 # RefSeq NP_001180458 NM_001193529.2. [Q92526-3] # RefSeq NP_001180459 NM_001193530.1. [Q92526-2] # RefSeq NP_006575 NM_006584.3. [Q92526-1] # SIMILARITY Belongs to the TCP-1 chaperonin family. {ECO 0000305}. # SUBCELLULAR LOCATION TCPW_HUMAN Cytoplasm. # SUBUNIT TCPW_HUMAN Heterooligomeric complex of about 850 to 900 kDa that forms two stacked rings, 12 to 16 nm in diameter. # SUPFAM SSF52029 SSF52029 # TIGRFAMs TIGR02347 chap_CCT_zeta # TISSUE SPECIFICITY TCPW_HUMAN Testis specific. # UCSC uc002hig human. [Q92526-1] # eggNOG ENOG410XQ3Q LUCA # eggNOG KOG0359 Eukaryota BLAST swissprot:TCPW_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:TCPW_HUMAN BioCyc ZFISH:ENSG00000132141-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000132141-MONOMER COXPRESdb 10693 http://coxpresdb.jp/data/gene/10693.shtml CleanEx HS_CCT6B http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CCT6B DIP DIP-53269N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-53269N DOI 10.1006/geno.1996.0467 http://dx.doi.org/10.1006/geno.1996.0467 DOI 10.1038/nature04689 http://dx.doi.org/10.1038/nature04689 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AC022903 http://www.ebi.ac.uk/ena/data/view/AC022903 EMBL AK301773 http://www.ebi.ac.uk/ena/data/view/AK301773 EMBL AK302344 http://www.ebi.ac.uk/ena/data/view/AK302344 EMBL BC026125 http://www.ebi.ac.uk/ena/data/view/BC026125 EMBL BC027591 http://www.ebi.ac.uk/ena/data/view/BC027591 EMBL D78333 http://www.ebi.ac.uk/ena/data/view/D78333 Ensembl ENST00000314144 http://www.ensembl.org/id/ENST00000314144 Ensembl ENST00000421975 http://www.ensembl.org/id/ENST00000421975 Ensembl ENST00000436961 http://www.ensembl.org/id/ENST00000436961 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005832 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005832 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GO_function GO:0051082 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051082 GO_process GO:0006457 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006457 GO_process GO:0007283 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007283 GO_process GO:0051131 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051131 GO_process GO:1901998 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1901998 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_function GO:0051082 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051082 GOslim_process GO:0006457 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006457 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 Gene3D 1.10.560.10 http://www.cathdb.info/version/latest/superfamily/1.10.560.10 Gene3D 3.30.260.10 http://www.cathdb.info/version/latest/superfamily/3.30.260.10 Gene3D 3.50.7.10 http://www.cathdb.info/version/latest/superfamily/3.50.7.10 GeneCards CCT6B http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CCT6B GeneID 10693 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=10693 GeneTree ENSGT00550000074743 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074743 H-InvDB HIX0013717 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0013717 HGNC HGNC:1621 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:1621 HOGENOM HOG000226733 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000226733&db=HOGENOM6 HOVERGEN HBG103725 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG103725&db=HOVERGEN HPA HPA042996 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA042996 HPA HPA045576 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA045576 HPA HPA049949 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA049949 InParanoid Q92526 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q92526 IntAct Q92526 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q92526* InterPro IPR002194 http://www.ebi.ac.uk/interpro/entry/IPR002194 InterPro IPR002423 http://www.ebi.ac.uk/interpro/entry/IPR002423 InterPro IPR012722 http://www.ebi.ac.uk/interpro/entry/IPR012722 InterPro IPR017998 http://www.ebi.ac.uk/interpro/entry/IPR017998 InterPro IPR027409 http://www.ebi.ac.uk/interpro/entry/IPR027409 InterPro IPR027410 http://www.ebi.ac.uk/interpro/entry/IPR027410 InterPro IPR027413 http://www.ebi.ac.uk/interpro/entry/IPR027413 Jabion 10693 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=10693 KEGG_Brite ko03110 http://www.genome.jp/dbget-bin/www_bget?ko03110 KEGG_Gene hsa:10693 http://www.genome.jp/dbget-bin/www_bget?hsa:10693 KEGG_Orthology KO:K09498 http://www.genome.jp/dbget-bin/www_bget?KO:K09498 MIM 610730 http://www.ncbi.nlm.nih.gov/omim/610730 OMA IVEMKHK http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=IVEMKHK OrthoDB EOG091G07CE http://cegg.unige.ch/orthodb/results?searchtext=EOG091G07CE PRINTS PR00304 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00304 PROSITE PS00750 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00750 PROSITE PS00751 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00751 PROSITE PS00995 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00995 PSORT swissprot:TCPW_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:TCPW_HUMAN PSORT-B swissprot:TCPW_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:TCPW_HUMAN PSORT2 swissprot:TCPW_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:TCPW_HUMAN Pfam PF00118 http://pfam.xfam.org/family/PF00118 PharmGKB PA26184 http://www.pharmgkb.org/do/serve?objId=PA26184&objCls=Gene Phobius swissprot:TCPW_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:TCPW_HUMAN PhylomeDB Q92526 http://phylomedb.org/?seqid=Q92526 ProteinModelPortal Q92526 http://www.proteinmodelportal.org/query/uniprot/Q92526 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16625196 http://www.ncbi.nlm.nih.gov/pubmed/16625196 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 8812458 http://www.ncbi.nlm.nih.gov/pubmed/8812458 Reactome R-HSA-389957 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-389957 Reactome R-HSA-389960 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-389960 Reactome R-HSA-390450 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-390450 Reactome R-HSA-390471 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-390471 Reactome R-HSA-6814122 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6814122 RefSeq NP_001180458 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001180458 RefSeq NP_001180459 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001180459 RefSeq NP_006575 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_006575 STRING 9606.ENSP00000327191 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000327191&targetmode=cogs SUPFAM SSF52029 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52029 TIGRFAMs TIGR02347 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR02347 UCSC uc002hig http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002hig&org=rat UniGene Hs.73072 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.73072 UniProtKB TCPW_HUMAN http://www.uniprot.org/uniprot/TCPW_HUMAN UniProtKB-AC Q92526 http://www.uniprot.org/uniprot/Q92526 charge swissprot:TCPW_HUMAN http://rest.g-language.org/emboss/charge/swissprot:TCPW_HUMAN eggNOG ENOG410XQ3Q http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XQ3Q eggNOG KOG0359 http://eggnogapi.embl.de/nog_data/html/tree/KOG0359 epestfind swissprot:TCPW_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:TCPW_HUMAN garnier swissprot:TCPW_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:TCPW_HUMAN helixturnhelix swissprot:TCPW_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:TCPW_HUMAN hmoment swissprot:TCPW_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:TCPW_HUMAN iep swissprot:TCPW_HUMAN http://rest.g-language.org/emboss/iep/swissprot:TCPW_HUMAN inforesidue swissprot:TCPW_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:TCPW_HUMAN neXtProt NX_Q92526 http://www.nextprot.org/db/entry/NX_Q92526 octanol swissprot:TCPW_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:TCPW_HUMAN pepcoil swissprot:TCPW_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:TCPW_HUMAN pepdigest swissprot:TCPW_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:TCPW_HUMAN pepinfo swissprot:TCPW_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:TCPW_HUMAN pepnet swissprot:TCPW_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:TCPW_HUMAN pepstats swissprot:TCPW_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:TCPW_HUMAN pepwheel swissprot:TCPW_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:TCPW_HUMAN pepwindow swissprot:TCPW_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:TCPW_HUMAN sigcleave swissprot:TCPW_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:TCPW_HUMAN ## Database ID URL or Descriptions # AltName 5HT3C_HUMAN Serotonin receptor 3C # BioGrid 128062 81 # DrugBank DB00898 Ethanol # DrugBank DB01049 Ergoloid mesylate # Ensembl ENST00000318351 ENSP00000322617; ENSG00000178084 # FUNCTION 5HT3C_HUMAN This is one of the several different receptors for 5- hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor is a ligand-gated ion channel, which when activated causes fast, depolarizing responses. It is a cation-specific, but otherwise relatively nonselective, ion channel. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0004993 G-protein coupled serotonin receptor activity; IDA:CACAO. # GO_function GO:0005232 serotonin-activated cation-selective channel activity; IBA:GO_Central. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.20.120.370 -; 1. # Gene3D 2.70.170.10 -; 1. # Genevisible Q8WXA8 HS # HGNC HGNC:24003 HTR3C # INTERACTION 5HT3C_HUMAN P46098 HTR3A; NbExp=5; IntAct=EBI-9008753, EBI-9008743; # InterPro IPR006029 Neurotrans-gated_channel_TM # InterPro IPR006201 Neur_channel # InterPro IPR006202 Neur_chan_lig-bd # InterPro IPR018000 Neurotransmitter_ion_chnl_CS # InterPro IPR027361 Acetylcholine_rcpt_TM # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04726 Serotonergic synapse # MIM 610121 gene # Organism 5HT3C_HUMAN Homo sapiens (Human) # PANTHER PTHR18945 PTHR18945 # PRINTS PR00252 NRIONCHANNEL # PROSITE PS00236 NEUROTR_ION_CHANNEL # Pfam PF02931 Neur_chan_LBD # Pfam PF02932 Neur_chan_memb # Proteomes UP000005640 Chromosome 3 # Reactome R-HSA-975298 Ligand-gated ion channel transport # RecName 5HT3C_HUMAN 5-hydroxytryptamine receptor 3C # RefSeq NP_570126 NM_130770.2 # SIMILARITY Belongs to the ligand-gated ion channel (TC 1.A.9) family. 5-hydroxytryptamine receptor (TC 1.A.9.2) subfamily. HTR3C sub-subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION 5HT3C_HUMAN Cell membrane {ECO 0000269|PubMed 17392525}; Multi-pass membrane protein {ECO 0000269|PubMed 17392525}. Note=Presumably retained within the endoplasmic reticulum unless complexed with HTR3A. # SUBUNIT Forms a pentaheteromeric complex with HTR3A. Not functional as a homomeric complex. {ECO:0000269|PubMed 17392525}. # SUPFAM SSF63712 SSF63712 # SUPFAM SSF90112 SSF90112 # TISSUE SPECIFICITY Expressed in many tissues including adult brain, colon, intestine, lung, muscle and stomach as well as fetal colon and kidney. {ECO:0000269|PubMed 12801637}. # UCSC uc003fmk human # eggNOG ENOG410XQGR LUCA # eggNOG KOG3645 Eukaryota BLAST swissprot:5HT3C_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:5HT3C_HUMAN BioCyc ZFISH:ENSG00000178084-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000178084-MONOMER COXPRESdb 170572 http://coxpresdb.jp/data/gene/170572.shtml CleanEx HS_HTR3C http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_HTR3C DOI 10.1016/S0378-1119(03)00503-1 http://dx.doi.org/10.1016/S0378-1119(03)00503-1 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1124/mol.106.032144 http://dx.doi.org/10.1124/mol.106.032144 DOI 10.1126/science.1133427 http://dx.doi.org/10.1126/science.1133427 DrugBank DB00898 http://www.drugbank.ca/drugs/DB00898 DrugBank DB01049 http://www.drugbank.ca/drugs/DB01049 EMBL AF459285 http://www.ebi.ac.uk/ena/data/view/AF459285 EMBL BC131799 http://www.ebi.ac.uk/ena/data/view/BC131799 EMBL CH471052 http://www.ebi.ac.uk/ena/data/view/CH471052 Ensembl ENST00000318351 http://www.ensembl.org/id/ENST00000318351 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0004993 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004993 GO_function GO:0005232 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005232 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.20.120.370 http://www.cathdb.info/version/latest/superfamily/1.20.120.370 Gene3D 2.70.170.10 http://www.cathdb.info/version/latest/superfamily/2.70.170.10 GeneCards HTR3C http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=HTR3C GeneID 170572 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=170572 GeneTree ENSGT00790000122957 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00790000122957 HGNC HGNC:24003 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:24003 HOGENOM HOG000241519 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000241519&db=HOGENOM6 HOVERGEN HBG106638 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG106638&db=HOVERGEN HPA CAB025100 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB025100 InParanoid Q8WXA8 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8WXA8 IntAct Q8WXA8 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q8WXA8* InterPro IPR006029 http://www.ebi.ac.uk/interpro/entry/IPR006029 InterPro IPR006201 http://www.ebi.ac.uk/interpro/entry/IPR006201 InterPro IPR006202 http://www.ebi.ac.uk/interpro/entry/IPR006202 InterPro IPR018000 http://www.ebi.ac.uk/interpro/entry/IPR018000 InterPro IPR027361 http://www.ebi.ac.uk/interpro/entry/IPR027361 Jabion 170572 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=170572 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:170572 http://www.genome.jp/dbget-bin/www_bget?hsa:170572 KEGG_Orthology KO:K04819 http://www.genome.jp/dbget-bin/www_bget?KO:K04819 KEGG_Pathway ko04726 http://www.genome.jp/kegg-bin/show_pathway?ko04726 MIM 610121 http://www.ncbi.nlm.nih.gov/omim/610121 OMA DIFIMES http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=DIFIMES OrthoDB EOG091G042C http://cegg.unige.ch/orthodb/results?searchtext=EOG091G042C PANTHER PTHR18945 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR18945 PRINTS PR00252 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00252 PROSITE PS00236 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00236 PSORT swissprot:5HT3C_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:5HT3C_HUMAN PSORT-B swissprot:5HT3C_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:5HT3C_HUMAN PSORT2 swissprot:5HT3C_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:5HT3C_HUMAN Pfam PF02931 http://pfam.xfam.org/family/PF02931 Pfam PF02932 http://pfam.xfam.org/family/PF02932 PharmGKB PA134925741 http://www.pharmgkb.org/do/serve?objId=PA134925741&objCls=Gene Phobius swissprot:5HT3C_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:5HT3C_HUMAN PhylomeDB Q8WXA8 http://phylomedb.org/?seqid=Q8WXA8 ProteinModelPortal Q8WXA8 http://www.proteinmodelportal.org/query/uniprot/Q8WXA8 PubMed 12801637 http://www.ncbi.nlm.nih.gov/pubmed/12801637 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16959974 http://www.ncbi.nlm.nih.gov/pubmed/16959974 PubMed 17392525 http://www.ncbi.nlm.nih.gov/pubmed/17392525 Reactome R-HSA-975298 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-975298 RefSeq NP_570126 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_570126 SMR Q8WXA8 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q8WXA8 STRING 9606.ENSP00000322617 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000322617&targetmode=cogs SUPFAM SSF63712 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF63712 SUPFAM SSF90112 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF90112 UCSC uc003fmk http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003fmk&org=rat UniGene Hs.632579 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.632579 UniProtKB 5HT3C_HUMAN http://www.uniprot.org/uniprot/5HT3C_HUMAN UniProtKB-AC Q8WXA8 http://www.uniprot.org/uniprot/Q8WXA8 charge swissprot:5HT3C_HUMAN http://rest.g-language.org/emboss/charge/swissprot:5HT3C_HUMAN eggNOG ENOG410XQGR http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XQGR eggNOG KOG3645 http://eggnogapi.embl.de/nog_data/html/tree/KOG3645 epestfind swissprot:5HT3C_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:5HT3C_HUMAN garnier swissprot:5HT3C_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:5HT3C_HUMAN helixturnhelix swissprot:5HT3C_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:5HT3C_HUMAN hmoment swissprot:5HT3C_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:5HT3C_HUMAN iep swissprot:5HT3C_HUMAN http://rest.g-language.org/emboss/iep/swissprot:5HT3C_HUMAN inforesidue swissprot:5HT3C_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:5HT3C_HUMAN neXtProt NX_Q8WXA8 http://www.nextprot.org/db/entry/NX_Q8WXA8 octanol swissprot:5HT3C_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:5HT3C_HUMAN pepcoil swissprot:5HT3C_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:5HT3C_HUMAN pepdigest swissprot:5HT3C_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:5HT3C_HUMAN pepinfo swissprot:5HT3C_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:5HT3C_HUMAN pepnet swissprot:5HT3C_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:5HT3C_HUMAN pepstats swissprot:5HT3C_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:5HT3C_HUMAN pepwheel swissprot:5HT3C_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:5HT3C_HUMAN pepwindow swissprot:5HT3C_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:5HT3C_HUMAN sigcleave swissprot:5HT3C_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:5HT3C_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS P_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q04671-1; Sequence=Displayed; Name=2; IsoId=Q04671-2; Sequence=VSP_012284; Name=3; IsoId=Q04671-3; Sequence=VSP_012285, VSP_012286; Note=No experimental confirmation available.; # AltName P_HUMAN Melanocyte-specific transporter protein # AltName P_HUMAN Pink-eyed dilution protein homolog # BioGrid 111002 3 # CCDS CCDS10020 -. [Q04671-1] # CCDS CCDS73701 -. [Q04671-2] # DISEASE P_HUMAN Albinism, oculocutaneous, 2 (OCA2) [MIM 203200] An autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in skin, hair, and eyes. Although affected infants may appear at birth to have complete absence of melanin pigment, most patients acquire small amounts of pigment with age. Visual anomalies include decreased acuity and nystagmus. The phenotype is highly variable. The hair of affected individuals may turn darker with age, and pigmented nevi or freckles may be seen. African and African American individuals may have yellow hair and blue-gray or hazel irides. One phenotypic variant, 'brown OCA,' has been described in African and African American populations and is characterized by light brown hair and skin color and gray to tan irides. {ECO 0000269|PubMed 10649493, ECO 0000269|PubMed 10671067, ECO 0000269|PubMed 10987646, ECO 0000269|PubMed 12713581, ECO 0000269|PubMed 12727022, ECO 0000269|PubMed 12876664, ECO 0000269|PubMed 17385796, ECO 0000269|PubMed 23504663, ECO 0000269|PubMed 7762554, ECO 0000269|PubMed 7874125, ECO 0000269|PubMed 9259203}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000353809 ENSP00000261276; ENSG00000104044. [Q04671-2] # Ensembl ENST00000354638 ENSP00000346659; ENSG00000104044. [Q04671-1] # ExpressionAtlas Q04671 baseline and differential # FUNCTION P_HUMAN Could be involved in the transport of tyrosine, the precursor to melanin synthesis, within the melanocyte. Regulates the pH of melanosome and the melanosome maturation. One of the components of the mammalian pigmentary system. Seems to regulate the post-translational processing of tyrosinase, which catalyzes the limiting reaction in melanin synthesis. May serve as a key control point at which ethnic skin color variation is determined. Major determinant of brown and/or blue eye color. {ECO 0000269|PubMed 11310796, ECO 0000269|PubMed 15262401, ECO 0000269|PubMed 18252222, ECO 0000269|PubMed 22234890, ECO 0000269|PubMed 7601462}. # GO_component GO:0005737 cytoplasm; TAS:ProtInc. # GO_component GO:0005765 lysosomal membrane; IDA:UniProtKB. # GO_component GO:0005789 endoplasmic reticulum membrane; IDA:UniProtKB. # GO_component GO:0010008 endosome membrane; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; TAS:ProtInc. # GO_component GO:0033162 melanosome membrane; IDA:UniProtKB. # GO_function GO:0005215 transporter activity; TAS:ProtInc. # GO_function GO:0005302 L-tyrosine transmembrane transporter activity; TAS:ProtInc. # GO_process GO:0006726 eye pigment biosynthetic process; TAS:ProtInc. # GO_process GO:0007286 spermatid development; IEA:Ensembl. # GO_process GO:0008283 cell proliferation; IEA:Ensembl. # GO_process GO:0030318 melanocyte differentiation; IEA:Ensembl. # GO_process GO:0042438 melanin biosynthetic process; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0008150 biological_process # GOslim_process GO:0008283 cell proliferation # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0019748 secondary metabolic process # GOslim_process GO:0030154 cell differentiation # GOslim_process GO:0048856 anatomical structure development # Genevisible Q04671 HS # HGNC HGNC:8101 OCA2 # INDUCTION P_HUMAN Expression is under the control of an enhancer element that is encoded in an intron of the close-by HERC2 gene. The enhancer element containing the T-allele of the polymorphism rs12913832 mediates binding of the transcription factors HLTF, LEF1 and MITF and increases OCA2 expression. In contrast, transcription factor binding and OCA2 expression are reduced in carriers of the C-allele of polymorphism rs12913832. Thus, people homozygous for the C-allele have light-colored eyes, while people homozygous for the T-allele of polymorphism rs12913832 most often have brown eyes. {ECO 0000269|PubMed 18172690, ECO 0000269|PubMed 18252222, ECO 0000269|PubMed 22234890}. # InterPro IPR004680 Cit_transptr-like_dom # KEGG_Disease H00168 [Inherited metabolic disease; Skin and connective tissue disease; Eye disease] Oculocutaneous albinism (OCA) # MIM 203200 phenotype # MIM 227220 phenotype # MIM 611409 gene # Organism P_HUMAN Homo sapiens (Human) # Orphanet 177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 # Orphanet 177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 # Orphanet 72 Angelman syndrome # Orphanet 79432 Oculocutaneous albinism type 2 # Orphanet 98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 # PIR A57173 A57173 # PIR S28911 S28911 # POLYMORPHISM P_HUMAN Genetic variants in OCA2 define the skin/hair/eye pigmentation variation locus 1 (SHEP1) [MIM 227220]; also known as skin/hair/eye pigmentation type 1, blue/nonblue eyes or skin/hair/eye pigmentation type 1, blue/brown eyes or skin/hair/eye pigmentation type 1, blond/brown hair or eye color, brown/blue or eye color, blue/nonblue or eye color type 3 (EYCL3) or brown eye color type 2 (BEY2) or hair color type 3 (HCL3). Hair, eye and skin pigmentation are among the most visible examples of human phenotypic variation, with a broad normal range that is subject to substantial geographic stratification. In the case of skin, individuals tend to have lighter pigmentation with increasing distance from the equator. By contrast, the majority of variation in human eye and hair color is found among individuals of European ancestry, with most other human populations fixed for brown eyes and black hair. OCA2 polymorphisms may act as a penetrance modifier of the risk of malignant melanoma. {ECO 0000269|PubMed 17236130, ECO 0000269|PubMed 17952075, ECO 0000269|PubMed 18172690, ECO 0000269|PubMed 18252221, ECO 0000269|PubMed 18252222}. # Pfam PF03600 CitMHS # Proteomes UP000005640 Chromosome 15 # Reactome R-HSA-5662702 Melanin biosynthesis # RecName P_HUMAN P protein # RefSeq NP_000266 NM_000275.2. [Q04671-1] # RefSeq NP_001287913 NM_001300984.1. [Q04671-2] # SIMILARITY Belongs to the CitM (TC 2.A.11) transporter family. {ECO 0000305}. # SUBCELLULAR LOCATION P_HUMAN Melanosome membrane {ECO 0000269|PubMed 7601462}; Multi-pass membrane protein {ECO 0000269|PubMed 7601462}. # TCDB 2.A.45.2 the arsenite-antimonite (arsb) efflux family # UCSC uc001zbh human. [Q04671-1] # WEB RESOURCE P_HUMAN Name=Albinism database (ADB); Note=P mutations; URL="http //albinismdb.med.umn.edu/oca2mut.html"; # WEB RESOURCE P_HUMAN Name=Mutations of the P gene; Note=Retina International's Scientific Newsletter; URL="http //www.retina-international.org/files/sci-news/pgenemut.htm"; # WEB RESOURCE P_HUMAN Name=Protein Spotlight; Note=Questioning colour - Issue 54 of January 2005; URL="http //web.expasy.org/spotlight/back_issues/054"; # eggNOG COG1055 LUCA # eggNOG KOG2639 Eukaryota BLAST swissprot:P_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:P_HUMAN BioCyc ZFISH:HS02540-MONOMER http://biocyc.org/getid?id=ZFISH:HS02540-MONOMER COXPRESdb 4948 http://coxpresdb.jp/data/gene/4948.shtml CleanEx HS_OCA2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_OCA2 DOI 10.1002/(SICI)1098-1004(1997)10:2<175::AID-HUMU12>3.0.CO http://dx.doi.org/10.1002/(SICI)1098-1004(1997)10:2<175::AID-HUMU12>3.0.CO DOI 10.1002/(SICI)1098-1004(1998)12:6<434::AID-HUMU15>3.3.CO http://dx.doi.org/10.1002/(SICI)1098-1004(1998)12:6<434::AID-HUMU15>3.3.CO DOI 10.1002/(SICI)1098-1004(1999)13:2<99::AID-HUMU2>3.3.CO http://dx.doi.org/10.1002/(SICI)1098-1004(1999)13:2<99::AID-HUMU2>3.3.CO DOI 10.1002/(SICI)1098-1004(200002)15:2<166::AID-HUMU5>3.0.CO http://dx.doi.org/10.1002/(SICI)1098-1004(200002)15:2<166::AID-HUMU5>3.0.CO DOI 10.1002/humu.22315 http://dx.doi.org/10.1002/humu.22315 DOI 10.1002/pd.1713 http://dx.doi.org/10.1002/pd.1713 DOI 10.1007/s00439-007-0460-x http://dx.doi.org/10.1007/s00439-007-0460-x DOI 10.1007/s004390051090 http://dx.doi.org/10.1007/s004390051090 DOI 10.1016/0888-7543(95)80220-G http://dx.doi.org/10.1016/0888-7543(95)80220-G DOI 10.1016/S0923-1811(03)00005-7 http://dx.doi.org/10.1016/S0923-1811(03)00005-7 DOI 10.1016/j.ajhg.2007.10.003 http://dx.doi.org/10.1016/j.ajhg.2007.10.003 DOI 10.1016/j.ajhg.2007.11.005 http://dx.doi.org/10.1016/j.ajhg.2007.11.005 DOI 10.1016/j.tig.2004.06.010 http://dx.doi.org/10.1016/j.tig.2004.06.010 DOI 10.1034/j.1600-0749.2001.140203.x http://dx.doi.org/10.1034/j.1600-0749.2001.140203.x DOI 10.1034/j.1600-0749.2001.140508.x http://dx.doi.org/10.1034/j.1600-0749.2001.140508.x DOI 10.1038/361072a0 http://dx.doi.org/10.1038/361072a0 DOI 10.1038/ng.2007.13 http://dx.doi.org/10.1038/ng.2007.13 DOI 10.1038/sj.ejhg.5201415 http://dx.doi.org/10.1038/sj.ejhg.5201415 DOI 10.1046/j.1523-1747.2003.12127.x http://dx.doi.org/10.1046/j.1523-1747.2003.12127.x DOI 10.1086/377569 http://dx.doi.org/10.1086/377569 DOI 10.1086/510885 http://dx.doi.org/10.1086/510885 DOI 10.1101/gr.128652.111 http://dx.doi.org/10.1101/gr.128652.111 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1133427 http://dx.doi.org/10.1126/science.1133427 DOI 10.1126/science.257.5073.1121 http://dx.doi.org/10.1126/science.257.5073.1121 EMBL BC012097 http://www.ebi.ac.uk/ena/data/view/BC012097 EMBL M97901 http://www.ebi.ac.uk/ena/data/view/M97901 EMBL M99564 http://www.ebi.ac.uk/ena/data/view/M99564 EMBL U19153 http://www.ebi.ac.uk/ena/data/view/U19153 EMBL U19153 http://www.ebi.ac.uk/ena/data/view/U19153 EMBL U19154 http://www.ebi.ac.uk/ena/data/view/U19154 EMBL U19154 http://www.ebi.ac.uk/ena/data/view/U19154 EMBL U19155 http://www.ebi.ac.uk/ena/data/view/U19155 EMBL U19155 http://www.ebi.ac.uk/ena/data/view/U19155 EMBL U19156 http://www.ebi.ac.uk/ena/data/view/U19156 EMBL U19157 http://www.ebi.ac.uk/ena/data/view/U19157 EMBL U19157 http://www.ebi.ac.uk/ena/data/view/U19157 EMBL U19158 http://www.ebi.ac.uk/ena/data/view/U19158 EMBL U19158 http://www.ebi.ac.uk/ena/data/view/U19158 EMBL U19159 http://www.ebi.ac.uk/ena/data/view/U19159 EMBL U19159 http://www.ebi.ac.uk/ena/data/view/U19159 EMBL U19160 http://www.ebi.ac.uk/ena/data/view/U19160 EMBL U19160 http://www.ebi.ac.uk/ena/data/view/U19160 EMBL U19161 http://www.ebi.ac.uk/ena/data/view/U19161 EMBL U19161 http://www.ebi.ac.uk/ena/data/view/U19161 EMBL U19162 http://www.ebi.ac.uk/ena/data/view/U19162 EMBL U19162 http://www.ebi.ac.uk/ena/data/view/U19162 EMBL U19163 http://www.ebi.ac.uk/ena/data/view/U19163 EMBL U19163 http://www.ebi.ac.uk/ena/data/view/U19163 EMBL U19164 http://www.ebi.ac.uk/ena/data/view/U19164 EMBL U19164 http://www.ebi.ac.uk/ena/data/view/U19164 EMBL U19165 http://www.ebi.ac.uk/ena/data/view/U19165 EMBL U19165 http://www.ebi.ac.uk/ena/data/view/U19165 EMBL U19166 http://www.ebi.ac.uk/ena/data/view/U19166 EMBL U19166 http://www.ebi.ac.uk/ena/data/view/U19166 EMBL U19167 http://www.ebi.ac.uk/ena/data/view/U19167 EMBL U19167 http://www.ebi.ac.uk/ena/data/view/U19167 EMBL U19168 http://www.ebi.ac.uk/ena/data/view/U19168 EMBL U19168 http://www.ebi.ac.uk/ena/data/view/U19168 EMBL U19169 http://www.ebi.ac.uk/ena/data/view/U19169 EMBL U19169 http://www.ebi.ac.uk/ena/data/view/U19169 EMBL U19170 http://www.ebi.ac.uk/ena/data/view/U19170 EMBL U19171 http://www.ebi.ac.uk/ena/data/view/U19171 EMBL U19172 http://www.ebi.ac.uk/ena/data/view/U19172 EMBL U19173 http://www.ebi.ac.uk/ena/data/view/U19173 EMBL U19174 http://www.ebi.ac.uk/ena/data/view/U19174 EMBL U19175 http://www.ebi.ac.uk/ena/data/view/U19175 EMBL U19176 http://www.ebi.ac.uk/ena/data/view/U19176 Ensembl ENST00000353809 http://www.ensembl.org/id/ENST00000353809 Ensembl ENST00000354638 http://www.ensembl.org/id/ENST00000354638 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005765 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005765 GO_component GO:0005789 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005789 GO_component GO:0010008 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010008 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0033162 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033162 GO_function GO:0005215 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005215 GO_function GO:0005302 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005302 GO_process GO:0006726 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006726 GO_process GO:0007286 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007286 GO_process GO:0008283 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008283 GO_process GO:0030318 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030318 GO_process GO:0042438 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042438 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0008283 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008283 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0019748 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019748 GOslim_process GO:0030154 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030154 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GeneCards OCA2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=OCA2 GeneID 4948 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=4948 GeneTree ENSGT00390000017120 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000017120 H-InvDB HIX0012054 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0012054 HGNC HGNC:8101 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:8101 HOGENOM HOG000047303 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000047303&db=HOGENOM6 HOVERGEN HBG008343 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG008343&db=HOVERGEN HPA HPA036403 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA036403 InParanoid Q04671 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q04671 IntAct Q04671 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q04671* InterPro IPR004680 http://www.ebi.ac.uk/interpro/entry/IPR004680 Jabion 4948 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=4948 KEGG_Disease H00168 http://www.genome.jp/dbget-bin/www_bget?H00168 KEGG_Gene hsa:4948 http://www.genome.jp/dbget-bin/www_bget?hsa:4948 MIM 203200 http://www.ncbi.nlm.nih.gov/omim/203200 MIM 227220 http://www.ncbi.nlm.nih.gov/omim/227220 MIM 611409 http://www.ncbi.nlm.nih.gov/omim/611409 OMA QVTHNWT http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=QVTHNWT Orphanet 177901 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=177901 Orphanet 177904 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=177904 Orphanet 72 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=72 Orphanet 79432 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=79432 Orphanet 98754 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=98754 OrthoDB EOG091G03O6 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G03O6 PSORT swissprot:P_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:P_HUMAN PSORT-B swissprot:P_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:P_HUMAN PSORT2 swissprot:P_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:P_HUMAN Pfam PF03600 http://pfam.xfam.org/family/PF03600 PharmGKB PA31890 http://www.pharmgkb.org/do/serve?objId=PA31890&objCls=Gene Phobius swissprot:P_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:P_HUMAN PhylomeDB Q04671 http://phylomedb.org/?seqid=Q04671 ProteinModelPortal Q04671 http://www.proteinmodelportal.org/query/uniprot/Q04671 PubMed 10094567 http://www.ncbi.nlm.nih.gov/pubmed/10094567 PubMed 10649493 http://www.ncbi.nlm.nih.gov/pubmed/10649493 PubMed 10671067 http://www.ncbi.nlm.nih.gov/pubmed/10671067 PubMed 10987646 http://www.ncbi.nlm.nih.gov/pubmed/10987646 PubMed 11310796 http://www.ncbi.nlm.nih.gov/pubmed/11310796 PubMed 11601658 http://www.ncbi.nlm.nih.gov/pubmed/11601658 PubMed 12163334 http://www.ncbi.nlm.nih.gov/pubmed/12163334 PubMed 12713581 http://www.ncbi.nlm.nih.gov/pubmed/12713581 PubMed 12727022 http://www.ncbi.nlm.nih.gov/pubmed/12727022 PubMed 12876664 http://www.ncbi.nlm.nih.gov/pubmed/12876664 PubMed 1509264 http://www.ncbi.nlm.nih.gov/pubmed/1509264 PubMed 15262401 http://www.ncbi.nlm.nih.gov/pubmed/15262401 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15889046 http://www.ncbi.nlm.nih.gov/pubmed/15889046 PubMed 16959974 http://www.ncbi.nlm.nih.gov/pubmed/16959974 PubMed 17236130 http://www.ncbi.nlm.nih.gov/pubmed/17236130 PubMed 17385796 http://www.ncbi.nlm.nih.gov/pubmed/17385796 PubMed 17952075 http://www.ncbi.nlm.nih.gov/pubmed/17952075 PubMed 18172690 http://www.ncbi.nlm.nih.gov/pubmed/18172690 PubMed 18252221 http://www.ncbi.nlm.nih.gov/pubmed/18252221 PubMed 18252222 http://www.ncbi.nlm.nih.gov/pubmed/18252222 PubMed 22234890 http://www.ncbi.nlm.nih.gov/pubmed/22234890 PubMed 23504663 http://www.ncbi.nlm.nih.gov/pubmed/23504663 PubMed 7601462 http://www.ncbi.nlm.nih.gov/pubmed/7601462 PubMed 7762554 http://www.ncbi.nlm.nih.gov/pubmed/7762554 PubMed 7874125 http://www.ncbi.nlm.nih.gov/pubmed/7874125 PubMed 8421497 http://www.ncbi.nlm.nih.gov/pubmed/8421497 PubMed 9259203 http://www.ncbi.nlm.nih.gov/pubmed/9259203 Reactome R-HSA-5662702 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5662702 RefSeq NP_000266 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000266 RefSeq NP_001287913 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001287913 STRING 9606.ENSP00000346659 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000346659&targetmode=cogs TCDB 2.A.45.2 http://www.tcdb.org/search/result.php?tc=2.A.45.2 UCSC uc001zbh http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001zbh&org=rat UniGene Hs.654411 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.654411 UniProtKB P_HUMAN http://www.uniprot.org/uniprot/P_HUMAN UniProtKB-AC Q04671 http://www.uniprot.org/uniprot/Q04671 charge swissprot:P_HUMAN http://rest.g-language.org/emboss/charge/swissprot:P_HUMAN eggNOG COG1055 http://eggnogapi.embl.de/nog_data/html/tree/COG1055 eggNOG KOG2639 http://eggnogapi.embl.de/nog_data/html/tree/KOG2639 epestfind swissprot:P_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:P_HUMAN garnier swissprot:P_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:P_HUMAN helixturnhelix swissprot:P_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:P_HUMAN hmoment swissprot:P_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:P_HUMAN iep swissprot:P_HUMAN http://rest.g-language.org/emboss/iep/swissprot:P_HUMAN inforesidue swissprot:P_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:P_HUMAN neXtProt NX_Q04671 http://www.nextprot.org/db/entry/NX_Q04671 octanol swissprot:P_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:P_HUMAN pepcoil swissprot:P_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:P_HUMAN pepdigest swissprot:P_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:P_HUMAN pepinfo swissprot:P_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:P_HUMAN pepnet swissprot:P_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:P_HUMAN pepstats swissprot:P_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:P_HUMAN pepwheel swissprot:P_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:P_HUMAN pepwindow swissprot:P_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:P_HUMAN sigcleave swissprot:P_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:P_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS CAC1G_HUMAN Event=Alternative splicing; Named isoforms=35; Name=5; IsoId=O43497-1; Sequence=Displayed; Name=1; Synonyms=Variant 89; IsoId=O43497-2; Sequence=VSP_000940, VSP_000943, VSP_000946; Name=2; Synonyms=Variant 25; IsoId=O43497-3; Sequence=VSP_000940, VSP_000944, VSP_000946; Name=3; IsoId=O43497-4; Sequence=VSP_000940; Name=4; Synonyms=Variant 88; IsoId=O43497-5; Sequence=VSP_000940, VSP_000943, VSP_000946, VSP_000948; Name=6; Synonyms=Variant 217; IsoId=O43497-6; Sequence=VSP_000943, VSP_000946; Name=7; Synonyms=Variant 221; IsoId=O43497-7; Sequence=VSP_000943, VSP_000947; Name=8; Synonyms=Variant 93; IsoId=O43497-8; Sequence=VSP_000940, VSP_000943, VSP_000947; Name=9; Synonyms=Variant 57; IsoId=O43497-9; Sequence=VSP_000940, VSP_000946; Name=10; IsoId=O43497-10; Sequence=VSP_000940, VSP_000945; Name=11; Synonyms=Variant 185; IsoId=O43497-11; Sequence=VSP_000946; Name=12; Synonyms=Variant 189; IsoId=O43497-12; Sequence=VSP_000947; Name=13; Synonyms=Variant 153; IsoId=O43497-13; Sequence=VSP_000944, VSP_000946; Name=14; Synonyms=Variant 137; IsoId=O43497-15; Sequence=VSP_000944, VSP_047550, VSP_000946; Name=15; Synonyms=Variant 157; IsoId=O43497-16; Sequence=VSP_000944, VSP_000947; Name=16; Synonyms=Variant 169; IsoId=O43497-17; Sequence=VSP_047550, VSP_000946; Name=17; Synonyms=Variant 184; IsoId=O43497-18; Sequence=VSP_000946, VSP_000948; Name=18; Synonyms=Variant 216; IsoId=O43497-19; Sequence=VSP_000943, VSP_000946, VSP_000948; Name=19; Synonyms=Variant 223; IsoId=O43497-20; Sequence=VSP_000943; Name=20; Synonyms=Variant 249; IsoId=O43497-21; Sequence=VSP_047548, VSP_000946; Name=21; Synonyms=Variant 313; IsoId=O43497-22; Sequence=VSP_000940, VSP_047545, VSP_000946; Name=22; Synonyms=Variant 409; IsoId=O43497-23; Sequence=VSP_047545, VSP_000944, VSP_000946; Name=23; Synonyms=Variant 441; IsoId=O43497-24; Sequence=VSP_047545, VSP_000946; Name=24; Synonyms=Variant 477; IsoId=O43497-25; Sequence=VSP_047545, VSP_000943, VSP_000947; Name=25; Synonyms=Variant 473; IsoId=O43497-26; Sequence=VSP_047545, VSP_000943, VSP_000946; Name=26; Synonyms=Variant 17; IsoId=O43497-27; Sequence=VSP_000940, VSP_000944, VSP_047551, VSP_047553; Name=27; Synonyms=Variant 33; IsoId=O43497-28; Sequence=VSP_000940, VSP_047549, VSP_047552; Name=28; Synonyms=Variant 49; IsoId=O43497-29; Sequence=VSP_000940, VSP_047551, VSP_047553; Name=29; Synonyms=Variant 145; IsoId=O43497-30; Sequence=VSP_000944, VSP_047551, VSP_047553; Name=30; Synonyms=Variant 177; IsoId=O43497-31; Sequence=VSP_047551, VSP_047553; Name=31; Synonyms=Variant 209; IsoId=O43497-32; Sequence=VSP_000943, VSP_047551, VSP_047553; Name=32; IsoId=O43497-33; Sequence=VSP_000940, VSP_000943; Note=Gene prediction based on EST data.; Name=33; Synonyms=Variant 441-d81; IsoId=O43497-34; Sequence=VSP_047546, VSP_000946; Name=34; Synonyms=Variant 473-d75; IsoId=O43497-35; Sequence=VSP_047547, VSP_000943, VSP_000946; Name=35; Synonyms=Variant 473-d81; IsoId=O43497-36; Sequence=VSP_047546, VSP_000943, VSP_000946; # AltName CAC1G_HUMAN Cav3.1c # AltName CAC1G_HUMAN NBR13 # AltName CAC1G_HUMAN Voltage-gated calcium channel subunit alpha Cav3.1 # BioGrid 114427 2 # CCDS CCDS45730 -. [O43497-1] # CCDS CCDS45731 -. [O43497-12] # CCDS CCDS45732 -. [O43497-11] # CCDS CCDS45733 -. [O43497-13] # CCDS CCDS45734 -. [O43497-33] # CCDS CCDS45735 -. [O43497-2] # CCDS CCDS45736 -. [O43497-5] # CCDS CCDS45737 -. [O43497-10] # CCDS CCDS54142 -. [O43497-7] # CCDS CCDS54143 -. [O43497-6] # CCDS CCDS54144 -. [O43497-9] # CCDS CCDS54145 -. [O43497-3] # CCDS CCDS54146 -. [O43497-8] # CCDS CCDS58565 -. [O43497-17] # CCDS CCDS58566 -. [O43497-18] # CCDS CCDS58567 -. [O43497-15] # CCDS CCDS58568 -. [O43497-16] # CCDS CCDS58569 -. [O43497-21] # CCDS CCDS58570 -. [O43497-20] # CCDS CCDS58571 -. [O43497-19] # CCDS CCDS58572 -. [O43497-24] # CCDS CCDS58573 -. [O43497-23] # CCDS CCDS58574 -. [O43497-25] # CCDS CCDS58575 -. [O43497-26] # CCDS CCDS58576 -. [O43497-22] # ChiTaRS CACNA1G human # DEVELOPMENTAL STAGE Isoform 4, isoform 7, isoform 18, isoform 19, isoform 24, isoform 25 and isoform 31 are adult-specific. Isoform 8, isoform 14, isoform 15, isoform 16, isoform 17, isoform 20, isoform 21, isoform 22, isoform 23, isoform 26, isoform 27, isoform 28, isoform 29 and isoform 30 are fetal-specific. Isoform 1, isoform 2, isoform 6, isoform 9, isoform 11, isoform 12 and isoform 13 are expressed in both fetus and adult. {ECO:0000269|PubMed 16671074}. # DISEASE CAC1G_HUMAN Spinocerebellar ataxia 42 (SCA42) [MIM 616795] A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA42 is a slowly progressive, autosomal dominant form with variable severity. {ECO 0000269|PubMed 26456284, ECO 0000269|PubMed 26715324}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DOMAIN CAC1G_HUMAN Each of the four internal repeats contains five hydrophobic transmembrane segments (S1, S2, S3, S5, S6) and one positively charged transmembrane segment (S4). S4 segments probably represent the voltage-sensor and are characterized by a series of positively charged amino acids at every third position. # DOMAIN CAC1G_HUMAN The linker region between repeat III and IV probably plays a role in the inactivation of the channel. The C-terminal part may be implicated in the anchoring of the protein to the membrane by interfering with or restricting its lateral diffusion. # DrugBank DB00347 Trimethadione # DrugBank DB00421 Spironolactone # DrugBank DB00568 Cinnarizine # DrugBank DB00593 Ethosuximide # DrugBank DB00661 Verapamil # DrugBank DB00909 Zonisamide # DrugBank DB04841 Flunarizine # DrugBank DB05246 Methsuximide # Ensembl ENST00000352832 ENSP00000339302; ENSG00000006283. [O43497-2] # Ensembl ENST00000354983 ENSP00000347078; ENSG00000006283. [O43497-33] # Ensembl ENST00000358244 ENSP00000350979; ENSG00000006283. [O43497-5] # Ensembl ENST00000359106 ENSP00000352011; ENSG00000006283. [O43497-1] # Ensembl ENST00000360761 ENSP00000353990; ENSG00000006283. [O43497-9] # Ensembl ENST00000429973 ENSP00000414388; ENSG00000006283. [O43497-13] # Ensembl ENST00000442258 ENSP00000409759; ENSG00000006283. [O43497-3] # Ensembl ENST00000502264 ENSP00000425522; ENSG00000006283. [O43497-10] # Ensembl ENST00000503436 ENSP00000427231; ENSG00000006283. [O43497-29] # Ensembl ENST00000503485 ENSP00000427238; ENSG00000006283. [O43497-24] # Ensembl ENST00000503607 ENSP00000426558; ENSG00000006283. [O43497-27] # Ensembl ENST00000504076 ENSP00000425153; ENSG00000006283. [O43497-32] # Ensembl ENST00000505165 ENSP00000422268; ENSG00000006283. [O43497-18] # Ensembl ENST00000506406 ENSP00000426313; ENSG00000006283. [O43497-31] # Ensembl ENST00000507336 ENSP00000420918; ENSG00000006283. [O43497-20] # Ensembl ENST00000507510 ENSP00000423112; ENSG00000006283. [O43497-12] # Ensembl ENST00000507609 ENSP00000423045; ENSG00000006283. [O43497-17] # Ensembl ENST00000507896 ENSP00000421518; ENSG00000006283. [O43497-19] # Ensembl ENST00000510115 ENSP00000427173; ENSG00000006283. [O43497-8] # Ensembl ENST00000510366 ENSP00000426814; ENSG00000006283. [O43497-23] # Ensembl ENST00000511765 ENSP00000427247; ENSG00000006283. [O43497-30] # Ensembl ENST00000511768 ENSP00000424664; ENSG00000006283. [O43497-28] # Ensembl ENST00000512389 ENSP00000426261; ENSG00000006283. [O43497-6] # Ensembl ENST00000513689 ENSP00000426172; ENSG00000006283. [O43497-25] # Ensembl ENST00000513964 ENSP00000425451; ENSG00000006283. [O43497-26] # Ensembl ENST00000514079 ENSP00000423317; ENSG00000006283. [O43497-21] # Ensembl ENST00000514181 ENSP00000425698; ENSG00000006283. [O43497-15] # Ensembl ENST00000514717 ENSP00000422407; ENSG00000006283. [O43497-22] # Ensembl ENST00000515165 ENSP00000426098; ENSG00000006283. [O43497-11] # Ensembl ENST00000515411 ENSP00000423155; ENSG00000006283. [O43497-16] # Ensembl ENST00000515765 ENSP00000426232; ENSG00000006283. [O43497-7] # ExpressionAtlas O43497 baseline and differential # FUNCTION CAC1G_HUMAN Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1G gives rise to T-type calcium currents. T-type calcium channels belong to the "low-voltage activated (LVA)" group and are strongly blocked by mibefradil. A particularity of this type of channel is an opening at quite negative potentials and a voltage-dependent inactivation. T-type channels serve pacemaking functions in both central neurons and cardiac nodal cells and support calcium signaling in secretory cells and vascular smooth muscle. They may also be involved in the modulation of firing patterns of neurons which is important for information processing as well as in cell growth processes. {ECO 0000269|PubMed 10648811, ECO 0000269|PubMed 10692398, ECO 0000269|PubMed 26456284, ECO 0000269|PubMed 26715324}. # GO_component GO:0005737 cytoplasm; IDA:UniProtKB. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0005891 voltage-gated calcium channel complex; ISS:BHF-UCL. # GO_function GO:0008332 low voltage-gated calcium channel activity; IDA:UniProtKB. # GO_function GO:0086056 voltage-gated calcium channel activity involved in AV node cell action potential; ISS:BHF-UCL. # GO_function GO:0086059 voltage-gated calcium channel activity involved SA node cell action potential; ISS:BHF-UCL. # GO_function GO:0097110 scaffold protein binding; IPI:BHF-UCL. # GO_process GO:0042391 regulation of membrane potential; IDA:BHF-UCL. # GO_process GO:0045956 positive regulation of calcium ion-dependent exocytosis; IBA:GO_Central. # GO_process GO:0070509 calcium ion import; IDA:BHF-UCL. # GO_process GO:0070588 calcium ion transmembrane transport; IDA:UniProtKB. # GO_process GO:0086010 membrane depolarization during action potential; IBA:GO_Central. # GO_process GO:0086015 SA node cell action potential; ISS:BHF-UCL. # GO_process GO:0086016 AV node cell action potential; ISS:BHF-UCL. # GO_process GO:0086018 SA node cell to atrial cardiac muscle cell signalling; ISS:BHF-UCL. # GO_process GO:0086027 AV node cell to bundle of His cell signaling; ISS:BHF-UCL. # GO_process GO:0086045 membrane depolarization during AV node cell action potential; ISS:BHF-UCL. # GO_process GO:0086046 membrane depolarization during SA node cell action potential; ISS:BHF-UCL. # GO_process GO:0086091 regulation of heart rate by cardiac conduction; ISS:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.20.120.350 -; 4. # Genevisible O43497 HS # HGNC HGNC:1394 CACNA1G # IntAct O43497 2 # InterPro IPR002077 VDCCAlpha1 # InterPro IPR005445 VDCC_T_a1 # InterPro IPR005821 Ion_trans_dom # InterPro IPR027359 Channel_four-helix_dom # InterPro IPR030154 VDCC_T_a1G # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04010 MAPK signaling pathway # KEGG_Pathway ko04020 Calcium signaling pathway # KEGG_Pathway ko04713 Circadian entrainment # KEGG_Pathway ko04930 Type II diabetes mellitus # MIM 604065 gene # MIM 616795 phenotype # Organism CAC1G_HUMAN Homo sapiens (Human) # PANTHER PTHR10037:SF137 PTHR10037:SF137; 8 # PRINTS PR00167 CACHANNEL # PRINTS PR01629 TVDCCALPHA1 # PTM CAC1G_HUMAN In response to raising of intracellular calcium, the T-type channels are activated by CaM-kinase II. # Pfam PF00520 Ion_trans; 4 # Proteomes UP000005640 Chromosome 17 # Reactome R-HSA-419037 NCAM1 interactions # RecName CAC1G_HUMAN Voltage-dependent T-type calcium channel subunit alpha-1G # RefSeq NP_001243253 NM_001256324.1. [O43497-16] # RefSeq NP_001243254 NM_001256325.1. [O43497-21] # RefSeq NP_001243255 NM_001256326.1. [O43497-25] # RefSeq NP_001243256 NM_001256327.1. [O43497-17] # RefSeq NP_001243257 NM_001256328.1. [O43497-15] # RefSeq NP_001243258 NM_001256329.1. [O43497-24] # RefSeq NP_001243259 NM_001256330.1. [O43497-26] # RefSeq NP_001243260 NM_001256331.1. [O43497-23] # RefSeq NP_001243261 NM_001256332.1. [O43497-22] # RefSeq NP_001243262 NM_001256333.1. [O43497-18] # RefSeq NP_001243263 NM_001256334.1. [O43497-19] # RefSeq NP_001243288 NM_001256359.1. [O43497-34] # RefSeq NP_001243289 NM_001256360.1. [O43497-35] # RefSeq NP_001243290 NM_001256361.1. [O43497-36] # RefSeq NP_061496 NM_018896.4. [O43497-1] # RefSeq NP_938190 NM_198376.2. [O43497-5] # RefSeq NP_938191 NM_198377.2. [O43497-20] # RefSeq NP_938192 NM_198378.2. [O43497-6] # RefSeq NP_938193 NM_198379.2. [O43497-8] # RefSeq NP_938194 NM_198380.2. [O43497-7] # RefSeq NP_938196 NM_198382.2. [O43497-9] # RefSeq NP_938197 NM_198383.2. [O43497-10] # RefSeq NP_938198 NM_198384.2. [O43497-11] # RefSeq NP_938199 NM_198385.2. [O43497-12] # RefSeq NP_938200 NM_198386.2. [O43497-13] # RefSeq NP_938201 NM_198387.2. [O43497-2] # RefSeq NP_938202 NM_198388.2. [O43497-3] # RefSeq NP_938406 NM_198396.2. [O43497-33] # SIMILARITY Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1G subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION CAC1G_HUMAN Cell membrane {ECO 0000269|PubMed 26715324}; Multi-pass membrane protein {ECO 0000255}. Cytoplasm {ECO 0000269|PubMed 26715324}. # TISSUE SPECIFICITY CAC1G_HUMAN Highly expressed in brain, in particular in the amygdala, subthalamic nuclei, cerebellum and thalamus. Moderate expression in heart; low expression in placenta, kidney and lung. Also expressed in colon and bone marrow and in tumoral cells to a lesser extent. Highly expressed in fetal brain, but also in peripheral fetal tissues as heart, kidney and lung, suggesting a developmentally regulated expression. # UCSC uc002irj human. [O43497-1] # eggNOG ENOG410XNP6 LUCA # eggNOG KOG2302 Eukaryota BLAST swissprot:CAC1G_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CAC1G_HUMAN BioCyc ZFISH:ENSG00000006283-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000006283-MONOMER COXPRESdb 8913 http://coxpresdb.jp/data/gene/8913.shtml DOI 10.1002/prot.20877 http://dx.doi.org/10.1002/prot.20877 DOI 10.1016/S0014-5793(99)01756-1 http://dx.doi.org/10.1016/S0014-5793(99)01756-1 DOI 10.1016/S0304-3940(99)00716-8 http://dx.doi.org/10.1016/S0304-3940(99)00716-8 DOI 10.1016/j.ajhg.2015.09.007 http://dx.doi.org/10.1016/j.ajhg.2015.09.007 DOI 10.1038/36110 http://dx.doi.org/10.1038/36110 DOI 10.1038/nature04689 http://dx.doi.org/10.1038/nature04689 DOI 10.1074/jbc.275.9.6090 http://dx.doi.org/10.1074/jbc.275.9.6090 DOI 10.1093/dnares/6.5.329 http://dx.doi.org/10.1093/dnares/6.5.329 DOI 10.1093/dnares/9.3.99 http://dx.doi.org/10.1093/dnares/9.3.99 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/s13041-015-0180-4 http://dx.doi.org/10.1186/s13041-015-0180-4 DrugBank DB00347 http://www.drugbank.ca/drugs/DB00347 DrugBank DB00421 http://www.drugbank.ca/drugs/DB00421 DrugBank DB00568 http://www.drugbank.ca/drugs/DB00568 DrugBank DB00593 http://www.drugbank.ca/drugs/DB00593 DrugBank DB00661 http://www.drugbank.ca/drugs/DB00661 DrugBank DB00909 http://www.drugbank.ca/drugs/DB00909 DrugBank DB04841 http://www.drugbank.ca/drugs/DB04841 DrugBank DB05246 http://www.drugbank.ca/drugs/DB05246 EMBL AB032949 http://www.ebi.ac.uk/ena/data/view/AB032949 EMBL AC004590 http://www.ebi.ac.uk/ena/data/view/AC004590 EMBL AC021491 http://www.ebi.ac.uk/ena/data/view/AC021491 EMBL AF029228 http://www.ebi.ac.uk/ena/data/view/AF029228 EMBL AF029229 http://www.ebi.ac.uk/ena/data/view/AF029229 EMBL AF124351 http://www.ebi.ac.uk/ena/data/view/AF124351 EMBL AF126965 http://www.ebi.ac.uk/ena/data/view/AF126965 EMBL AF126966 http://www.ebi.ac.uk/ena/data/view/AF126966 EMBL AF134985 http://www.ebi.ac.uk/ena/data/view/AF134985 EMBL AF134986 http://www.ebi.ac.uk/ena/data/view/AF134986 EMBL AF190860 http://www.ebi.ac.uk/ena/data/view/AF190860 EMBL AF227744 http://www.ebi.ac.uk/ena/data/view/AF227744 EMBL AF227745 http://www.ebi.ac.uk/ena/data/view/AF227745 EMBL AF227746 http://www.ebi.ac.uk/ena/data/view/AF227746 EMBL AF227747 http://www.ebi.ac.uk/ena/data/view/AF227747 EMBL AF227748 http://www.ebi.ac.uk/ena/data/view/AF227748 EMBL AF227749 http://www.ebi.ac.uk/ena/data/view/AF227749 EMBL AF227750 http://www.ebi.ac.uk/ena/data/view/AF227750 EMBL AF227751 http://www.ebi.ac.uk/ena/data/view/AF227751 EMBL BC110995 http://www.ebi.ac.uk/ena/data/view/BC110995 EMBL DQ494449 http://www.ebi.ac.uk/ena/data/view/DQ494449 EMBL DQ494450 http://www.ebi.ac.uk/ena/data/view/DQ494450 EMBL DQ494451 http://www.ebi.ac.uk/ena/data/view/DQ494451 EMBL DQ494452 http://www.ebi.ac.uk/ena/data/view/DQ494452 EMBL DQ494453 http://www.ebi.ac.uk/ena/data/view/DQ494453 EMBL DQ494454 http://www.ebi.ac.uk/ena/data/view/DQ494454 EMBL DQ494455 http://www.ebi.ac.uk/ena/data/view/DQ494455 EMBL DQ494456 http://www.ebi.ac.uk/ena/data/view/DQ494456 EMBL DQ494457 http://www.ebi.ac.uk/ena/data/view/DQ494457 EMBL DQ494458 http://www.ebi.ac.uk/ena/data/view/DQ494458 EMBL DQ494459 http://www.ebi.ac.uk/ena/data/view/DQ494459 EMBL DQ494460 http://www.ebi.ac.uk/ena/data/view/DQ494460 EMBL DQ494461 http://www.ebi.ac.uk/ena/data/view/DQ494461 EMBL DQ494462 http://www.ebi.ac.uk/ena/data/view/DQ494462 EMBL DQ494463 http://www.ebi.ac.uk/ena/data/view/DQ494463 EMBL DQ494464 http://www.ebi.ac.uk/ena/data/view/DQ494464 EMBL DQ494465 http://www.ebi.ac.uk/ena/data/view/DQ494465 EMBL DQ494466 http://www.ebi.ac.uk/ena/data/view/DQ494466 EMBL DQ494467 http://www.ebi.ac.uk/ena/data/view/DQ494467 EMBL DQ494468 http://www.ebi.ac.uk/ena/data/view/DQ494468 EMBL DQ494469 http://www.ebi.ac.uk/ena/data/view/DQ494469 EMBL DQ494470 http://www.ebi.ac.uk/ena/data/view/DQ494470 EMBL DQ494471 http://www.ebi.ac.uk/ena/data/view/DQ494471 EMBL DQ494472 http://www.ebi.ac.uk/ena/data/view/DQ494472 EMBL DQ494473 http://www.ebi.ac.uk/ena/data/view/DQ494473 EMBL DQ494474 http://www.ebi.ac.uk/ena/data/view/DQ494474 EMBL DQ494475 http://www.ebi.ac.uk/ena/data/view/DQ494475 EMBL DQ494476 http://www.ebi.ac.uk/ena/data/view/DQ494476 EMBL DQ494477 http://www.ebi.ac.uk/ena/data/view/DQ494477 EMBL DQ494478 http://www.ebi.ac.uk/ena/data/view/DQ494478 EMBL DQ494479 http://www.ebi.ac.uk/ena/data/view/DQ494479 Ensembl ENST00000352832 http://www.ensembl.org/id/ENST00000352832 Ensembl ENST00000354983 http://www.ensembl.org/id/ENST00000354983 Ensembl ENST00000358244 http://www.ensembl.org/id/ENST00000358244 Ensembl ENST00000359106 http://www.ensembl.org/id/ENST00000359106 Ensembl ENST00000360761 http://www.ensembl.org/id/ENST00000360761 Ensembl ENST00000429973 http://www.ensembl.org/id/ENST00000429973 Ensembl ENST00000442258 http://www.ensembl.org/id/ENST00000442258 Ensembl ENST00000502264 http://www.ensembl.org/id/ENST00000502264 Ensembl ENST00000503436 http://www.ensembl.org/id/ENST00000503436 Ensembl ENST00000503485 http://www.ensembl.org/id/ENST00000503485 Ensembl ENST00000503607 http://www.ensembl.org/id/ENST00000503607 Ensembl ENST00000504076 http://www.ensembl.org/id/ENST00000504076 Ensembl ENST00000505165 http://www.ensembl.org/id/ENST00000505165 Ensembl ENST00000506406 http://www.ensembl.org/id/ENST00000506406 Ensembl ENST00000507336 http://www.ensembl.org/id/ENST00000507336 Ensembl ENST00000507510 http://www.ensembl.org/id/ENST00000507510 Ensembl ENST00000507609 http://www.ensembl.org/id/ENST00000507609 Ensembl ENST00000507896 http://www.ensembl.org/id/ENST00000507896 Ensembl ENST00000510115 http://www.ensembl.org/id/ENST00000510115 Ensembl ENST00000510366 http://www.ensembl.org/id/ENST00000510366 Ensembl ENST00000511765 http://www.ensembl.org/id/ENST00000511765 Ensembl ENST00000511768 http://www.ensembl.org/id/ENST00000511768 Ensembl ENST00000512389 http://www.ensembl.org/id/ENST00000512389 Ensembl ENST00000513689 http://www.ensembl.org/id/ENST00000513689 Ensembl ENST00000513964 http://www.ensembl.org/id/ENST00000513964 Ensembl ENST00000514079 http://www.ensembl.org/id/ENST00000514079 Ensembl ENST00000514181 http://www.ensembl.org/id/ENST00000514181 Ensembl ENST00000514717 http://www.ensembl.org/id/ENST00000514717 Ensembl ENST00000515165 http://www.ensembl.org/id/ENST00000515165 Ensembl ENST00000515411 http://www.ensembl.org/id/ENST00000515411 Ensembl ENST00000515765 http://www.ensembl.org/id/ENST00000515765 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005891 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005891 GO_function GO:0008332 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008332 GO_function GO:0086056 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086056 GO_function GO:0086059 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086059 GO_function GO:0097110 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097110 GO_process GO:0042391 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042391 GO_process GO:0045956 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045956 GO_process GO:0070509 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070509 GO_process GO:0070588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070588 GO_process GO:0086010 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086010 GO_process GO:0086015 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086015 GO_process GO:0086016 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086016 GO_process GO:0086018 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086018 GO_process GO:0086027 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086027 GO_process GO:0086045 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086045 GO_process GO:0086046 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086046 GO_process GO:0086091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086091 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.20.120.350 http://www.cathdb.info/version/latest/superfamily/1.20.120.350 GeneCards CACNA1G http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CACNA1G GeneID 8913 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=8913 GeneTree ENSGT00830000128242 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00830000128242 HGNC HGNC:1394 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:1394 HOGENOM HOG000007742 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000007742&db=HOGENOM6 HOVERGEN HBG050764 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050764&db=HOVERGEN HPA HPA004714 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA004714 InParanoid O43497 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O43497 IntAct O43497 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O43497* InterPro IPR002077 http://www.ebi.ac.uk/interpro/entry/IPR002077 InterPro IPR005445 http://www.ebi.ac.uk/interpro/entry/IPR005445 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR027359 http://www.ebi.ac.uk/interpro/entry/IPR027359 InterPro IPR030154 http://www.ebi.ac.uk/interpro/entry/IPR030154 Jabion 8913 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=8913 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:8913 http://www.genome.jp/dbget-bin/www_bget?hsa:8913 KEGG_Orthology KO:K04854 http://www.genome.jp/dbget-bin/www_bget?KO:K04854 KEGG_Pathway ko04010 http://www.genome.jp/kegg-bin/show_pathway?ko04010 KEGG_Pathway ko04020 http://www.genome.jp/kegg-bin/show_pathway?ko04020 KEGG_Pathway ko04713 http://www.genome.jp/kegg-bin/show_pathway?ko04713 KEGG_Pathway ko04930 http://www.genome.jp/kegg-bin/show_pathway?ko04930 MIM 604065 http://www.ncbi.nlm.nih.gov/omim/604065 MIM 616795 http://www.ncbi.nlm.nih.gov/omim/616795 MINT MINT-2796172 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-2796172 OMA ALESNMQ http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=ALESNMQ OrthoDB EOG091G02L1 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G02L1 PANTHER PTHR10037:SF137 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10037:SF137 PRINTS PR00167 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00167 PRINTS PR01629 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01629 PSORT swissprot:CAC1G_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CAC1G_HUMAN PSORT-B swissprot:CAC1G_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CAC1G_HUMAN PSORT2 swissprot:CAC1G_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CAC1G_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 PharmGKB PA381 http://www.pharmgkb.org/do/serve?objId=PA381&objCls=Gene Phobius swissprot:CAC1G_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CAC1G_HUMAN PhylomeDB O43497 http://phylomedb.org/?seqid=O43497 ProteinModelPortal O43497 http://www.proteinmodelportal.org/query/uniprot/O43497 PubMed 10493502 http://www.ncbi.nlm.nih.gov/pubmed/10493502 PubMed 10548410 http://www.ncbi.nlm.nih.gov/pubmed/10548410 PubMed 10574461 http://www.ncbi.nlm.nih.gov/pubmed/10574461 PubMed 10648811 http://www.ncbi.nlm.nih.gov/pubmed/10648811 PubMed 10692398 http://www.ncbi.nlm.nih.gov/pubmed/10692398 PubMed 12168954 http://www.ncbi.nlm.nih.gov/pubmed/12168954 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16625196 http://www.ncbi.nlm.nih.gov/pubmed/16625196 PubMed 16671074 http://www.ncbi.nlm.nih.gov/pubmed/16671074 PubMed 26456284 http://www.ncbi.nlm.nih.gov/pubmed/26456284 PubMed 26715324 http://www.ncbi.nlm.nih.gov/pubmed/26715324 PubMed 9495342 http://www.ncbi.nlm.nih.gov/pubmed/9495342 Reactome R-HSA-419037 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-419037 RefSeq NP_001243253 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001243253 RefSeq NP_001243254 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001243254 RefSeq NP_001243255 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001243255 RefSeq NP_001243256 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001243256 RefSeq NP_001243257 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001243257 RefSeq NP_001243258 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001243258 RefSeq NP_001243259 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001243259 RefSeq NP_001243260 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001243260 RefSeq NP_001243261 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001243261 RefSeq NP_001243262 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001243262 RefSeq NP_001243263 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001243263 RefSeq NP_001243288 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001243288 RefSeq NP_001243289 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001243289 RefSeq NP_001243290 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001243290 RefSeq NP_061496 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_061496 RefSeq NP_938190 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_938190 RefSeq NP_938191 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_938191 RefSeq NP_938192 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_938192 RefSeq NP_938193 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_938193 RefSeq NP_938194 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_938194 RefSeq NP_938196 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_938196 RefSeq NP_938197 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_938197 RefSeq NP_938198 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_938198 RefSeq NP_938199 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_938199 RefSeq NP_938200 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_938200 RefSeq NP_938201 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_938201 RefSeq NP_938202 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_938202 RefSeq NP_938406 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_938406 STRING 9606.ENSP00000352011 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000352011&targetmode=cogs UCSC uc002irj http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002irj&org=rat UniGene Hs.591169 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.591169 UniProtKB CAC1G_HUMAN http://www.uniprot.org/uniprot/CAC1G_HUMAN UniProtKB-AC O43497 http://www.uniprot.org/uniprot/O43497 charge swissprot:CAC1G_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CAC1G_HUMAN eggNOG ENOG410XNP6 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XNP6 eggNOG KOG2302 http://eggnogapi.embl.de/nog_data/html/tree/KOG2302 epestfind swissprot:CAC1G_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CAC1G_HUMAN garnier swissprot:CAC1G_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CAC1G_HUMAN helixturnhelix swissprot:CAC1G_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CAC1G_HUMAN hmoment swissprot:CAC1G_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CAC1G_HUMAN iep swissprot:CAC1G_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CAC1G_HUMAN inforesidue swissprot:CAC1G_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CAC1G_HUMAN neXtProt NX_O43497 http://www.nextprot.org/db/entry/NX_O43497 octanol swissprot:CAC1G_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CAC1G_HUMAN pepcoil swissprot:CAC1G_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CAC1G_HUMAN pepdigest swissprot:CAC1G_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CAC1G_HUMAN pepinfo swissprot:CAC1G_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CAC1G_HUMAN pepnet swissprot:CAC1G_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CAC1G_HUMAN pepstats swissprot:CAC1G_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CAC1G_HUMAN pepwheel swissprot:CAC1G_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CAC1G_HUMAN pepwindow swissprot:CAC1G_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CAC1G_HUMAN sigcleave swissprot:CAC1G_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CAC1G_HUMAN ## Database ID URL or Descriptions # AltName COX8A_HUMAN Cytochrome c oxidase polypeptide VIII-liver/heart # AltName COX8A_HUMAN Cytochrome c oxidase subunit 8-2 # BioGrid 107744 4 # ChiTaRS COX8A human # DrugBank DB02659 Cholic Acid # Ensembl ENST00000314133 ENSP00000321260; ENSG00000176340 # ExpressionAtlas P10176 baseline and differential # FUNCTION COX8A_HUMAN This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport. # GO_component GO:0005743 mitochondrial inner membrane; TAS:Reactome. # GO_component GO:0005751 mitochondrial respiratory chain complex IV; IBA:GO_Central. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0004129 cytochrome-c oxidase activity; TAS:ProtInc. # GO_process GO:0006091 generation of precursor metabolites and energy; TAS:ProtInc. # GO_process GO:0006123 mitochondrial electron transport, cytochrome c to oxygen; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0043234 protein complex # GOslim_function GO:0016491 oxidoreductase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006091 generation of precursor metabolites and energy # Gene3D 4.10.81.10 -; 1. # Genevisible P10176 HS # HGNC HGNC:2294 COX8A # INTERACTION COX8A_HUMAN P06748 NPM1; NbExp=3; IntAct=EBI-3904738, EBI-78579; # IntAct P10176 5 # InterPro IPR003205 Cyt_c_oxidase_su8 # InterPro IPR016070 Cyt_c_oxidase_su8/PSI_RC_su9 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Pathway ko00190 Oxidative phosphorylation # KEGG_Pathway ko04260 Cardiac muscle contraction # KEGG_Pathway ko05010 Alzheimer's disease # KEGG_Pathway ko05012 Parkinson's disease # KEGG_Pathway ko05016 Huntington's disease # MIM 123870 gene # Organism COX8A_HUMAN Homo sapiens (Human) # PANTHER PTHR16717 PTHR16717 # PIR A34103 OSHU8 # Pfam PF02285 COX8 # Proteomes UP000005640 Chromosome 11 # Reactome R-HSA-5628897 TP53 Regulates Metabolic Genes # Reactome R-HSA-611105 Respiratory electron transport # RecName COX8A_HUMAN Cytochrome c oxidase subunit 8A, mitochondrial # RefSeq NP_004065 NM_004074.2 # SIMILARITY Belongs to the cytochrome c oxidase VIII family. {ECO 0000305}. # SUBCELLULAR LOCATION COX8A_HUMAN Mitochondrion inner membrane. # SUPFAM SSF81431 SSF81431 # TCDB 3.D.4.11 the proton-translocating cytochrome oxidase (cox) superfamily # eggNOG ENOG410J4WR Eukaryota # eggNOG ENOG410ZEYR LUCA BLAST swissprot:COX8A_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:COX8A_HUMAN BioCyc ZFISH:HS11040-MONOMER http://biocyc.org/getid?id=ZFISH:HS11040-MONOMER COXPRESdb 1351 http://coxpresdb.jp/data/gene/1351.shtml CleanEx HS_COX8A http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_COX8A DOI 10.1016/0014-5793(88)80353-3 http://dx.doi.org/10.1016/0014-5793(88)80353-3 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DrugBank DB02659 http://www.drugbank.ca/drugs/DB02659 EMBL BC063025 http://www.ebi.ac.uk/ena/data/view/BC063025 EMBL J04823 http://www.ebi.ac.uk/ena/data/view/J04823 Ensembl ENST00000314133 http://www.ensembl.org/id/ENST00000314133 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0005751 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005751 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0004129 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004129 GO_process GO:0006091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006091 GO_process GO:0006123 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006123 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0016491 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016491 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006091 Gene3D 4.10.81.10 http://www.cathdb.info/version/latest/superfamily/4.10.81.10 GeneCards COX8A http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=COX8A GeneID 1351 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=1351 GeneTree ENSGT00390000006255 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000006255 HGNC HGNC:2294 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:2294 HOGENOM HOG000230478 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000230478&db=HOGENOM6 HPA HPA055942 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA055942 InParanoid P10176 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P10176 IntAct P10176 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P10176* InterPro IPR003205 http://www.ebi.ac.uk/interpro/entry/IPR003205 InterPro IPR016070 http://www.ebi.ac.uk/interpro/entry/IPR016070 Jabion 1351 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=1351 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00002 http://www.genome.jp/dbget-bin/www_bget?ko00002 KEGG_Gene hsa:1351 http://www.genome.jp/dbget-bin/www_bget?hsa:1351 KEGG_Orthology KO:K02273 http://www.genome.jp/dbget-bin/www_bget?KO:K02273 KEGG_Pathway ko00190 http://www.genome.jp/kegg-bin/show_pathway?ko00190 KEGG_Pathway ko04260 http://www.genome.jp/kegg-bin/show_pathway?ko04260 KEGG_Pathway ko05010 http://www.genome.jp/kegg-bin/show_pathway?ko05010 KEGG_Pathway ko05012 http://www.genome.jp/kegg-bin/show_pathway?ko05012 KEGG_Pathway ko05016 http://www.genome.jp/kegg-bin/show_pathway?ko05016 MIM 123870 http://www.ncbi.nlm.nih.gov/omim/123870 OMA IGLTSCF http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=IGLTSCF OrthoDB EOG091G11UL http://cegg.unige.ch/orthodb/results?searchtext=EOG091G11UL PANTHER PTHR16717 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR16717 PSORT swissprot:COX8A_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:COX8A_HUMAN PSORT-B swissprot:COX8A_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:COX8A_HUMAN PSORT2 swissprot:COX8A_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:COX8A_HUMAN Pfam PF02285 http://pfam.xfam.org/family/PF02285 PharmGKB PA26814 http://www.pharmgkb.org/do/serve?objId=PA26814&objCls=Gene Phobius swissprot:COX8A_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:COX8A_HUMAN PhylomeDB P10176 http://phylomedb.org/?seqid=P10176 ProteinModelPortal P10176 http://www.proteinmodelportal.org/query/uniprot/P10176 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 2543673 http://www.ncbi.nlm.nih.gov/pubmed/2543673 PubMed 2847943 http://www.ncbi.nlm.nih.gov/pubmed/2847943 Reactome R-HSA-5628897 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5628897 Reactome R-HSA-611105 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-611105 RefSeq NP_004065 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004065 SMR P10176 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P10176 STRING 9606.ENSP00000321260 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000321260&targetmode=cogs SUPFAM SSF81431 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81431 TCDB 3.D.4.11 http://www.tcdb.org/search/result.php?tc=3.D.4.11 UniGene Hs.743989 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.743989 UniProtKB COX8A_HUMAN http://www.uniprot.org/uniprot/COX8A_HUMAN UniProtKB-AC P10176 http://www.uniprot.org/uniprot/P10176 charge swissprot:COX8A_HUMAN http://rest.g-language.org/emboss/charge/swissprot:COX8A_HUMAN eggNOG ENOG410J4WR http://eggnogapi.embl.de/nog_data/html/tree/ENOG410J4WR eggNOG ENOG410ZEYR http://eggnogapi.embl.de/nog_data/html/tree/ENOG410ZEYR epestfind swissprot:COX8A_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:COX8A_HUMAN garnier swissprot:COX8A_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:COX8A_HUMAN helixturnhelix swissprot:COX8A_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:COX8A_HUMAN hmoment swissprot:COX8A_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:COX8A_HUMAN iep swissprot:COX8A_HUMAN http://rest.g-language.org/emboss/iep/swissprot:COX8A_HUMAN inforesidue swissprot:COX8A_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:COX8A_HUMAN neXtProt NX_P10176 http://www.nextprot.org/db/entry/NX_P10176 octanol swissprot:COX8A_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:COX8A_HUMAN pepcoil swissprot:COX8A_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:COX8A_HUMAN pepdigest swissprot:COX8A_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:COX8A_HUMAN pepinfo swissprot:COX8A_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:COX8A_HUMAN pepnet swissprot:COX8A_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:COX8A_HUMAN pepstats swissprot:COX8A_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:COX8A_HUMAN pepwheel swissprot:COX8A_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:COX8A_HUMAN pepwindow swissprot:COX8A_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:COX8A_HUMAN sigcleave swissprot:COX8A_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:COX8A_HUMAN ## Database ID URL or Descriptions # AltName KCNE2_HUMAN MinK-related peptide 1 # AltName KCNE2_HUMAN Minimum potassium ion channel-related peptide 1 # AltName KCNE2_HUMAN Potassium channel subunit beta MiRP1 # BioGrid 115313 2 # DISEASE KCNE2_HUMAN Atrial fibrillation, familial, 4 (ATFB4) [MIM 611493] A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. {ECO 0000269|PubMed 15368194}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE KCNE2_HUMAN Long QT syndrome 6 (LQT6) [MIM 613693] A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. {ECO 0000269|PubMed 10219239, ECO 0000269|PubMed 12185453, ECO 0000269|PubMed 16922724, ECO 0000269|PubMed 19716085}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000290310 ENSP00000290310; ENSG00000159197 # FUNCTION KCNE2_HUMAN Ancillary protein that assembles as a beta subunit with a voltage-gated potassium channel complex of pore-forming alpha subunits. Modulates the gating kinetics and enhances stability of the channel complex. Assembled with KCNB1 modulates the gating characteristics of the delayed rectifier voltage-dependent potassium channel KCNB1. Associated with KCNH2/HERG is proposed to form the rapidly activating component of the delayed rectifying potassium current in heart (IKr). May associate with KCNQ2 and/or KCNQ3 and modulate the native M-type current. May associate with HCN1 and HCN2 and increase potassium current. Interacts with KCNQ1; forms a heterooligomer complex leading to currents with an apparently instantaneous activation, a rapid deactivation process and a linear current-voltage relationship and decreases the amplitude of the outward current (PubMed 11101505). {ECO 0000250|UniProtKB P63161, ECO 0000269|PubMed 10219239, ECO 0000269|PubMed 11101505}. # GO_component GO:0005764 lysosome; IDA:UniProtKB. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0008076 voltage-gated potassium channel complex; IDA:BHF-UCL. # GO_component GO:0009986 cell surface; IDA:BHF-UCL. # GO_function GO:0005242 inward rectifier potassium channel activity; IEA:Ensembl. # GO_function GO:0005251 delayed rectifier potassium channel activity; IEA:Ensembl. # GO_function GO:0015459 potassium channel regulator activity; IDA:UniProtKB. # GO_function GO:0044325 ion channel binding; IDA:BHF-UCL. # GO_function GO:1902282 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization; IMP:BHF-UCL. # GO_process GO:0007568 aging; IEA:Ensembl. # GO_process GO:0010107 potassium ion import; IMP:BHF-UCL. # GO_process GO:0035690 cellular response to drug; IDA:BHF-UCL. # GO_process GO:0043586 tongue development; IEA:Ensembl. # GO_process GO:0060306 regulation of membrane repolarization; IDA:BHF-UCL. # GO_process GO:0060307 regulation of ventricular cardiac muscle cell membrane repolarization; IMP:BHF-UCL. # GO_process GO:0061337 cardiac conduction; TAS:Reactome. # GO_process GO:0071435 potassium ion export; IDA:BHF-UCL. # GO_process GO:0071805 potassium ion transmembrane transport; IDA:BHF-UCL. # GO_process GO:0086002 cardiac muscle cell action potential involved in contraction; IMP:BHF-UCL. # GO_process GO:0086005 ventricular cardiac muscle cell action potential; IMP:BHF-UCL. # GO_process GO:0086009 membrane repolarization; IDA:BHF-UCL. # GO_process GO:0086011 membrane repolarization during action potential; IMP:BHF-UCL. # GO_process GO:0086091 regulation of heart rate by cardiac conduction; IMP:BHF-UCL. # GO_process GO:0098915 membrane repolarization during ventricular cardiac muscle cell action potential; IMP:BHF-UCL. # GO_process GO:1901379 regulation of potassium ion transmembrane transport; IDA:BHF-UCL. # GO_process GO:1901387 positive regulation of voltage-gated calcium channel activity; IEA:Ensembl. # GO_process GO:1901800 positive regulation of proteasomal protein catabolic process; IDA:BHF-UCL. # GO_process GO:1901979 regulation of inward rectifier potassium channel activity; IDA:BHF-UCL. # GO_process GO:1902159 regulation of cyclic nucleotide-gated ion channel activity; IEA:Ensembl. # GO_process GO:1902259 regulation of delayed rectifier potassium channel activity; IDA:BHF-UCL. # GO_process GO:1902260 negative regulation of delayed rectifier potassium channel activity; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005764 lysosome # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0007568 aging # GOslim_process GO:0008150 biological_process # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0055085 transmembrane transport # Genevisible Q9Y6J6 HS # HGNC HGNC:6242 KCNE2 # InterPro IPR000369 K_chnl_KCNE # InterPro IPR005425 K_chnl_volt-dep_bsu_KCNE2 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00720 [Cardiovascular disease] Jervell and Lange-Nielsen syndrome (JLNS) # KEGG_Disease H00731 [Cardiovascular disease] Atrial fibrillation # KEGG_Pathway ko04971 Gastric acid secretion # MIM 603796 gene # MIM 611493 phenotype # MIM 613693 phenotype # Organism KCNE2_HUMAN Homo sapiens (Human) # Orphanet 101016 Romano-Ward syndrome # Orphanet 334 Familial atrial fibrillation # PDB 2M0Q NMR; -; A=1-123 # PRINTS PR01605 KCNE2CHANNEL # Pfam PF02060 ISK_Channel # Proteomes UP000005640 Chromosome 21 # Reactome R-HSA-5576890 Phase 3 - rapid repolarisation # Reactome R-HSA-5576893 Phase 2 - plateau phase # RecName KCNE2_HUMAN Potassium voltage-gated channel subfamily E member 2 # RefSeq NP_751951 NM_172201.1 # SIMILARITY Belongs to the potassium channel KCNE family. {ECO 0000305}. # SUBCELLULAR LOCATION KCNE2_HUMAN Cell membrane {ECO 0000269|PubMed 20533308}; Single-pass type I membrane protein {ECO 0000250|UniProtKB P63161}. Note=Colocalizes with KCNB1 at the plasma membrane. {ECO 0000250|UniProtKB P63161}. # SUBUNIT KCNE2_HUMAN Interacts with KCNB1 (By similarity). Associates with KCNH2/ERG1 (PubMed 10219239). May associate with KCNQ2 and KCNQ3 (PubMed 11034315,). Associates with HCN1 and probably HCN2. Heteromultimer with KCNC2. Interacts with KCNC2 (By similarity). Interacts with KCNQ1; forms a heterooligomer complex that targets to the membrane raft and leading to currents with an apparently instantaneous activation, a rapid deactivation process and a linear current-voltage relationship and decreases the amplitude of the outward current (PubMed 11101505, PubMed 20533308). {ECO 0000250|UniProtKB P63161, ECO 0000269|PubMed 10219239, ECO 0000269|PubMed 11034315, ECO 0000269|PubMed 11101505, ECO 0000269|PubMed 20533308}. # TISSUE SPECIFICITY Highly expressed in brain, heart, skeletal muscle, pancreas, placenta, kidney, colon and thymus. A small but significant expression is found in liver, ovary, testis, prostate, small intestine and leukocytes. Very low expression, nearly undetectable, in lung and spleen. {ECO:0000269|PubMed 11034315}. # UCSC uc002ytt human # eggNOG ENOG410IX4Y Eukaryota # eggNOG ENOG411297Y LUCA BLAST swissprot:KCNE2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCNE2_HUMAN BioCyc ZFISH:ENSG00000159197-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000159197-MONOMER COXPRESdb 9992 http://coxpresdb.jp/data/gene/9992.shtml CleanEx HS_KCNE2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNE2 DOI 10.1002/jcp.22265 http://dx.doi.org/10.1002/jcp.22265 DOI 10.1007/s00109-002-0364-0 http://dx.doi.org/10.1007/s00109-002-0364-0 DOI 10.1016/S0014-5793(00)01918-9 http://dx.doi.org/10.1016/S0014-5793(00)01918-9 DOI 10.1016/S0092-8674(00)80728-X http://dx.doi.org/10.1016/S0092-8674(00)80728-X DOI 10.1016/j.hrthm.2009.05.021 http://dx.doi.org/10.1016/j.hrthm.2009.05.021 DOI 10.1086/425342 http://dx.doi.org/10.1086/425342 DOI 10.1093/emboj/19.23.6326 http://dx.doi.org/10.1093/emboj/19.23.6326 DOI 10.1096/fj.01-0520hyp http://dx.doi.org/10.1096/fj.01-0520hyp DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1399-0004.2006.00671.x http://dx.doi.org/10.1111/j.1399-0004.2006.00671.x EMBL AF071002 http://www.ebi.ac.uk/ena/data/view/AF071002 EMBL AF302095 http://www.ebi.ac.uk/ena/data/view/AF302095 EMBL BC093892 http://www.ebi.ac.uk/ena/data/view/BC093892 EMBL BC112087 http://www.ebi.ac.uk/ena/data/view/BC112087 EMBL CH471079 http://www.ebi.ac.uk/ena/data/view/CH471079 EMBL DQ784804 http://www.ebi.ac.uk/ena/data/view/DQ784804 Ensembl ENST00000290310 http://www.ensembl.org/id/ENST00000290310 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005764 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005764 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0008076 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008076 GO_component GO:0009986 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009986 GO_function GO:0005242 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005242 GO_function GO:0005251 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005251 GO_function GO:0015459 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015459 GO_function GO:0044325 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044325 GO_function GO:1902282 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902282 GO_process GO:0007568 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007568 GO_process GO:0010107 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010107 GO_process GO:0035690 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035690 GO_process GO:0043586 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043586 GO_process GO:0060306 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060306 GO_process GO:0060307 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060307 GO_process GO:0061337 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061337 GO_process GO:0071435 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071435 GO_process GO:0071805 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071805 GO_process GO:0086002 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086002 GO_process GO:0086005 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086005 GO_process GO:0086009 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086009 GO_process GO:0086011 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086011 GO_process GO:0086091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086091 GO_process GO:0098915 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0098915 GO_process GO:1901379 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1901379 GO_process GO:1901387 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1901387 GO_process GO:1901800 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1901800 GO_process GO:1901979 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1901979 GO_process GO:1902159 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902159 GO_process GO:1902259 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902259 GO_process GO:1902260 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902260 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005764 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005764 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0007568 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007568 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards KCNE2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNE2 GeneID 9992 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=9992 GeneTree ENSGT00510000048894 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00510000048894 HGNC HGNC:6242 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6242 HOGENOM HOG000113208 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000113208&db=HOGENOM6 HOVERGEN HBG052227 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052227&db=HOVERGEN HPA HPA029706 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA029706 HPA HPA051553 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA051553 InParanoid Q9Y6J6 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9Y6J6 InterPro IPR000369 http://www.ebi.ac.uk/interpro/entry/IPR000369 InterPro IPR005425 http://www.ebi.ac.uk/interpro/entry/IPR005425 Jabion 9992 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=9992 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00720 http://www.genome.jp/dbget-bin/www_bget?H00720 KEGG_Disease H00731 http://www.genome.jp/dbget-bin/www_bget?H00731 KEGG_Gene hsa:9992 http://www.genome.jp/dbget-bin/www_bget?hsa:9992 KEGG_Orthology KO:K04896 http://www.genome.jp/dbget-bin/www_bget?KO:K04896 KEGG_Pathway ko04971 http://www.genome.jp/kegg-bin/show_pathway?ko04971 MIM 603796 http://www.ncbi.nlm.nih.gov/omim/603796 MIM 611493 http://www.ncbi.nlm.nih.gov/omim/611493 MIM 613693 http://www.ncbi.nlm.nih.gov/omim/613693 OMA NWRRNTT http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=NWRRNTT Orphanet 101016 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=101016 Orphanet 334 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=334 OrthoDB EOG091G0UDJ http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0UDJ PDB 2M0Q http://www.ebi.ac.uk/pdbe-srv/view/entry/2M0Q PDBsum 2M0Q http://www.ebi.ac.uk/pdbsum/2M0Q PRINTS PR01605 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01605 PSORT swissprot:KCNE2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCNE2_HUMAN PSORT-B swissprot:KCNE2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCNE2_HUMAN PSORT2 swissprot:KCNE2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCNE2_HUMAN Pfam PF02060 http://pfam.xfam.org/family/PF02060 PharmGKB PA392 http://www.pharmgkb.org/do/serve?objId=PA392&objCls=Gene Phobius swissprot:KCNE2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCNE2_HUMAN PhylomeDB Q9Y6J6 http://phylomedb.org/?seqid=Q9Y6J6 ProteinModelPortal Q9Y6J6 http://www.proteinmodelportal.org/query/uniprot/Q9Y6J6 PubMed 10219239 http://www.ncbi.nlm.nih.gov/pubmed/10219239 PubMed 11034315 http://www.ncbi.nlm.nih.gov/pubmed/11034315 PubMed 11101505 http://www.ncbi.nlm.nih.gov/pubmed/11101505 PubMed 11874988 http://www.ncbi.nlm.nih.gov/pubmed/11874988 PubMed 12185453 http://www.ncbi.nlm.nih.gov/pubmed/12185453 PubMed 15368194 http://www.ncbi.nlm.nih.gov/pubmed/15368194 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16922724 http://www.ncbi.nlm.nih.gov/pubmed/16922724 PubMed 19716085 http://www.ncbi.nlm.nih.gov/pubmed/19716085 PubMed 20533308 http://www.ncbi.nlm.nih.gov/pubmed/20533308 Reactome R-HSA-5576890 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576890 Reactome R-HSA-5576893 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576893 RefSeq NP_751951 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_751951 SMR Q9Y6J6 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9Y6J6 STRING 9606.ENSP00000290310 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000290310&targetmode=cogs UCSC uc002ytt http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002ytt&org=rat UniGene Hs.551521 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.551521 UniGene Hs.736062 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.736062 UniProtKB KCNE2_HUMAN http://www.uniprot.org/uniprot/KCNE2_HUMAN UniProtKB-AC Q9Y6J6 http://www.uniprot.org/uniprot/Q9Y6J6 charge swissprot:KCNE2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCNE2_HUMAN eggNOG ENOG410IX4Y http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IX4Y eggNOG ENOG411297Y http://eggnogapi.embl.de/nog_data/html/tree/ENOG411297Y epestfind swissprot:KCNE2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCNE2_HUMAN garnier swissprot:KCNE2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCNE2_HUMAN helixturnhelix swissprot:KCNE2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCNE2_HUMAN hmoment swissprot:KCNE2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCNE2_HUMAN iep swissprot:KCNE2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCNE2_HUMAN inforesidue swissprot:KCNE2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCNE2_HUMAN neXtProt NX_Q9Y6J6 http://www.nextprot.org/db/entry/NX_Q9Y6J6 octanol swissprot:KCNE2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCNE2_HUMAN pepcoil swissprot:KCNE2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCNE2_HUMAN pepdigest swissprot:KCNE2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCNE2_HUMAN pepinfo swissprot:KCNE2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCNE2_HUMAN pepnet swissprot:KCNE2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCNE2_HUMAN pepstats swissprot:KCNE2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCNE2_HUMAN pepwheel swissprot:KCNE2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCNE2_HUMAN pepwindow swissprot:KCNE2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCNE2_HUMAN sigcleave swissprot:KCNE2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCNE2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS GTR4_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P14672-1; Sequence=Displayed; Name=2; IsoId=P14672-2; Sequence=VSP_056331, VSP_056332; Note=No experimental confirmation available.; # AltName GTR4_HUMAN Glucose transporter type 4, insulin-responsive # BioGrid 112408 39 # CCDS CCDS11097 -. [P14672-1] # CDD cd06174 MFS # DISEASE GTR4_HUMAN Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM 125853] A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to the body's own insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. {ECO 0000269|PubMed 1521731, ECO 0000269|PubMed 1756912, ECO 0000269|PubMed 1918382}. Note=The disease may be caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000317370 ENSP00000320935; ENSG00000181856. [P14672-1] # Ensembl ENST00000572485 ENSP00000461086; ENSG00000181856. [P14672-2] # ExpressionAtlas P14672 baseline and differential # FUNCTION GTR4_HUMAN Insulin-regulated facilitative glucose transporter. # GO_component GO:0005771 multivesicular body; IEA:Ensembl. # GO_component GO:0005829 cytosol; IEA:Ensembl. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0005905 clathrin-coated pit; IEA:Ensembl. # GO_component GO:0009897 external side of plasma membrane; IDA:MGI. # GO_component GO:0012505 endomembrane system; ISS:UniProtKB. # GO_component GO:0012506 vesicle membrane; IDA:MGI. # GO_component GO:0016020 membrane; TAS:ProtInc. # GO_component GO:0030136 clathrin-coated vesicle; IDA:UniProtKB. # GO_component GO:0030140 trans-Golgi network transport vesicle; IEA:Ensembl. # GO_component GO:0030315 T-tubule; IEA:Ensembl. # GO_component GO:0030659 cytoplasmic vesicle membrane; IEA:Ensembl. # GO_component GO:0032593 insulin-responsive compartment; IDA:UniProtKB. # GO_component GO:0045121 membrane raft; IEA:Ensembl. # GO_component GO:0048471 perinuclear region of cytoplasm; IDA:UniProtKB. # GO_component GO:0070062 extracellular exosome; IEA:Ensembl. # GO_function GO:0005355 glucose transmembrane transporter activity; EXP:Reactome. # GO_function GO:0055056 D-glucose transmembrane transporter activity; TAS:Reactome. # GO_process GO:0005975 carbohydrate metabolic process; TAS:ProtInc. # GO_process GO:0010021 amylopectin biosynthetic process; IEA:Ensembl. # GO_process GO:0015758 glucose transport; TAS:UniProtKB. # GO_process GO:0032869 cellular response to insulin stimulus; IDA:UniProtKB. # GO_process GO:0042593 glucose homeostasis; IDA:BHF-UCL. # GO_process GO:0045471 response to ethanol; IEA:Ensembl. # GO_process GO:0046323 glucose import; NAS:BHF-UCL. # GO_process GO:0050873 brown fat cell differentiation; IEA:Ensembl. # GO_process GO:0071356 cellular response to tumor necrosis factor; IEA:Ensembl. # GO_process GO:0071456 cellular response to hypoxia; IEA:Ensembl. # GO_process GO:0071470 cellular response to osmotic stress; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005768 endosome # GOslim_component GO:0005829 cytosol # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0031410 cytoplasmic vesicle # GOslim_component GO:0043226 organelle # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0005975 carbohydrate metabolic process # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0008150 biological_process # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0030154 cell differentiation # GOslim_process GO:0042592 homeostatic process # Genevisible P14672 HS # HGNC HGNC:11009 SLC2A4 # IntAct P14672 2 # InterPro IPR002441 Glc_transpt_4 # InterPro IPR003663 Sugar/inositol_transpt # InterPro IPR005828 MFS_sugar_transport-like # InterPro IPR005829 Sugar_transporter_CS # InterPro IPR020846 MFS_dom # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02000 Transporters # KEGG_Brite ko02001 Solute carrier family # KEGG_Pathway ko04910 Insulin signaling pathway # KEGG_Pathway ko04920 Adipocytokine signaling pathway # KEGG_Pathway ko04930 Type II diabetes mellitus # MIM 125853 phenotype # MIM 138190 gene # MISCELLANEOUS Insulin-stimulated phosphorylation of TBC1D4 is required for GLUT4 translocation. {ECO 0000250}. # Organism GTR4_HUMAN Homo sapiens (Human) # PIR A49158 A33801 # PRINTS PR00171 SUGRTRNSPORT # PRINTS PR01193 GLUCTRSPORT4 # PROSITE PS00216 SUGAR_TRANSPORT_1 # PROSITE PS00217 SUGAR_TRANSPORT_2 # PROSITE PS50850 MFS # PTM GTR4_HUMAN Sumoylated. {ECO 0000269|PubMed 11842083}. # Pfam PF00083 Sugar_tr # Proteomes UP000005640 Chromosome 17 # Reactome R-HSA-1445148 Translocation of GLUT4 to the plasma membrane # Reactome R-HSA-381340 Transcriptional regulation of white adipocyte differentiation # Reactome R-HSA-428790 Facilitative Na+-independent glucose transporters # Reactome R-HSA-70153 Glucose transport # RecName GTR4_HUMAN Solute carrier family 2, facilitated glucose transporter member 4 # RefSeq NP_001033 NM_001042.2. [P14672-1] # SIMILARITY Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION GTR4_HUMAN Cell membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. Endomembrane system {ECO 0000269|PubMed 8300557}; Multi-pass membrane protein {ECO 0000269|PubMed 8300557}. Cytoplasm, perinuclear region {ECO 0000269|PubMed 8300557}. Note=Localizes primarily to the perinuclear region, undergoing continued recycling to the plasma membrane where it is rapidly reinternalized. The dileucine internalization motif is critical for intracellular sequestration. # SUBUNIT GTR4_HUMAN Interacts with NDUFA9 (By similarity). Binds to DAXX. Interacts via its N-terminus with SRFBP1. {ECO 0000250, ECO 0000269|PubMed 11842083, ECO 0000269|PubMed 16647043}. # SUPFAM SSF103473 SSF103473 # TCDB 2.A.1.1.80 the major facilitator superfamily (mfs) # TIGRFAMs TIGR00879 SP # TISSUE SPECIFICITY GTR4_HUMAN Skeletal and cardiac muscles; brown and white fat. # UCSC uc002gfp human. [P14672-1] # WEB RESOURCE GTR4_HUMAN Name=Wikipedia; Note=GLUT4 entry; URL="https //en.wikipedia.org/wiki/Glut4"; # eggNOG COG0477 LUCA # eggNOG KOG0569 Eukaryota BLAST swissprot:GTR4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:GTR4_HUMAN BioCyc ZFISH:ENSG00000181856-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000181856-MONOMER COXPRESdb 6517 http://coxpresdb.jp/data/gene/6517.shtml CleanEx HS_SLC2A4 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC2A4 DOI 10.1007/BF02342449 http://dx.doi.org/10.1007/BF02342449 DOI 10.1016/0378-1119(93)90438-9 http://dx.doi.org/10.1016/0378-1119(93)90438-9 DOI 10.1016/j.bbrc.2006.04.017 http://dx.doi.org/10.1016/j.bbrc.2006.04.017 DOI 10.1016/j.bbrc.2007.03.029 http://dx.doi.org/10.1016/j.bbrc.2007.03.029 DOI 10.1038/nature04689 http://dx.doi.org/10.1038/nature04689 DOI 10.1038/nbt.1532 http://dx.doi.org/10.1038/nbt.1532 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1074/jbc.M110294200 http://dx.doi.org/10.1074/jbc.M110294200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1172/JCI115437 http://dx.doi.org/10.1172/JCI115437 DOI 10.2337/diab.40.12.1712 http://dx.doi.org/10.2337/diab.40.12.1712 DOI 10.2337/diab.41.11.1436 http://dx.doi.org/10.2337/diab.41.11.1436 EMBL AC003688 http://www.ebi.ac.uk/ena/data/view/AC003688 EMBL BC034387 http://www.ebi.ac.uk/ena/data/view/BC034387 EMBL BC069615 http://www.ebi.ac.uk/ena/data/view/BC069615 EMBL BC069621 http://www.ebi.ac.uk/ena/data/view/BC069621 EMBL BC113592 http://www.ebi.ac.uk/ena/data/view/BC113592 EMBL BC126164 http://www.ebi.ac.uk/ena/data/view/BC126164 EMBL M20747 http://www.ebi.ac.uk/ena/data/view/M20747 EMBL M91463 http://www.ebi.ac.uk/ena/data/view/M91463 EMBL X58489 http://www.ebi.ac.uk/ena/data/view/X58489 Ensembl ENST00000317370 http://www.ensembl.org/id/ENST00000317370 Ensembl ENST00000572485 http://www.ensembl.org/id/ENST00000572485 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005771 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005771 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0005905 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005905 GO_component GO:0009897 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009897 GO_component GO:0012505 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0012505 GO_component GO:0012506 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0012506 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0030136 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030136 GO_component GO:0030140 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030140 GO_component GO:0030315 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030315 GO_component GO:0030659 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030659 GO_component GO:0032593 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032593 GO_component GO:0045121 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045121 GO_component GO:0048471 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048471 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0005355 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005355 GO_function GO:0055056 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055056 GO_process GO:0005975 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005975 GO_process GO:0010021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010021 GO_process GO:0015758 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015758 GO_process GO:0032869 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032869 GO_process GO:0042593 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042593 GO_process GO:0045471 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045471 GO_process GO:0046323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046323 GO_process GO:0050873 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050873 GO_process GO:0071356 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071356 GO_process GO:0071456 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071456 GO_process GO:0071470 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071470 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0031410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0005975 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005975 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0030154 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030154 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GeneCards SLC2A4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC2A4 GeneID 6517 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6517 GeneTree ENSGT00760000119022 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119022 HGNC HGNC:11009 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11009 HOGENOM HOG000202871 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000202871&db=HOGENOM6 HOVERGEN HBG014816 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG014816&db=HOVERGEN HPA CAB016544 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB016544 InParanoid P14672 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P14672 IntAct P14672 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P14672* InterPro IPR002441 http://www.ebi.ac.uk/interpro/entry/IPR002441 InterPro IPR003663 http://www.ebi.ac.uk/interpro/entry/IPR003663 InterPro IPR005828 http://www.ebi.ac.uk/interpro/entry/IPR005828 InterPro IPR005829 http://www.ebi.ac.uk/interpro/entry/IPR005829 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 6517 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6517 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:6517 http://www.genome.jp/dbget-bin/www_bget?hsa:6517 KEGG_Orthology KO:K07191 http://www.genome.jp/dbget-bin/www_bget?KO:K07191 KEGG_Pathway ko04910 http://www.genome.jp/kegg-bin/show_pathway?ko04910 KEGG_Pathway ko04920 http://www.genome.jp/kegg-bin/show_pathway?ko04920 KEGG_Pathway ko04930 http://www.genome.jp/kegg-bin/show_pathway?ko04930 MIM 125853 http://www.ncbi.nlm.nih.gov/omim/125853 MIM 138190 http://www.ncbi.nlm.nih.gov/omim/138190 MINT MINT-232088 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-232088 OMA SHTHRQP http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=SHTHRQP OrthoDB EOG091G0A9K http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0A9K PRINTS PR00171 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00171 PRINTS PR01193 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01193 PROSITE PS00216 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00216 PROSITE PS00217 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00217 PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PSORT swissprot:GTR4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:GTR4_HUMAN PSORT-B swissprot:GTR4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:GTR4_HUMAN PSORT2 swissprot:GTR4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:GTR4_HUMAN Pfam PF00083 http://pfam.xfam.org/family/PF00083 PharmGKB PA35879 http://www.pharmgkb.org/do/serve?objId=PA35879&objCls=Gene Phobius swissprot:GTR4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:GTR4_HUMAN PhylomeDB P14672 http://phylomedb.org/?seqid=P14672 ProteinModelPortal P14672 http://www.proteinmodelportal.org/query/uniprot/P14672 PubMed 11842083 http://www.ncbi.nlm.nih.gov/pubmed/11842083 PubMed 1397719 http://www.ncbi.nlm.nih.gov/pubmed/1397719 PubMed 1521731 http://www.ncbi.nlm.nih.gov/pubmed/1521731 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16625196 http://www.ncbi.nlm.nih.gov/pubmed/16625196 PubMed 16647043 http://www.ncbi.nlm.nih.gov/pubmed/16647043 PubMed 17382906 http://www.ncbi.nlm.nih.gov/pubmed/17382906 PubMed 1756912 http://www.ncbi.nlm.nih.gov/pubmed/1756912 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 1918382 http://www.ncbi.nlm.nih.gov/pubmed/1918382 PubMed 19349973 http://www.ncbi.nlm.nih.gov/pubmed/19349973 PubMed 2656669 http://www.ncbi.nlm.nih.gov/pubmed/2656669 PubMed 7916714 http://www.ncbi.nlm.nih.gov/pubmed/7916714 PubMed 8300557 http://www.ncbi.nlm.nih.gov/pubmed/8300557 Reactome R-HSA-1445148 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1445148 Reactome R-HSA-381340 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-381340 Reactome R-HSA-428790 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-428790 Reactome R-HSA-70153 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-70153 RefSeq NP_001033 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001033 STRING 9606.ENSP00000320935 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000320935&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.1.1.80 http://www.tcdb.org/search/result.php?tc=2.A.1.1.80 TIGRFAMs TIGR00879 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00879 UCSC uc002gfp http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002gfp&org=rat UniGene Hs.380691 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.380691 UniProtKB GTR4_HUMAN http://www.uniprot.org/uniprot/GTR4_HUMAN UniProtKB-AC P14672 http://www.uniprot.org/uniprot/P14672 charge swissprot:GTR4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:GTR4_HUMAN eggNOG COG0477 http://eggnogapi.embl.de/nog_data/html/tree/COG0477 eggNOG KOG0569 http://eggnogapi.embl.de/nog_data/html/tree/KOG0569 epestfind swissprot:GTR4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:GTR4_HUMAN garnier swissprot:GTR4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:GTR4_HUMAN helixturnhelix swissprot:GTR4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:GTR4_HUMAN hmoment swissprot:GTR4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:GTR4_HUMAN iep swissprot:GTR4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:GTR4_HUMAN inforesidue swissprot:GTR4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:GTR4_HUMAN neXtProt NX_P14672 http://www.nextprot.org/db/entry/NX_P14672 octanol swissprot:GTR4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:GTR4_HUMAN pepcoil swissprot:GTR4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:GTR4_HUMAN pepdigest swissprot:GTR4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:GTR4_HUMAN pepinfo swissprot:GTR4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:GTR4_HUMAN pepnet swissprot:GTR4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:GTR4_HUMAN pepstats swissprot:GTR4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:GTR4_HUMAN pepwheel swissprot:GTR4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:GTR4_HUMAN pepwindow swissprot:GTR4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:GTR4_HUMAN sigcleave swissprot:GTR4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:GTR4_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS LAT1L_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9GIP4-3; Sequence=Displayed; Name=2; IsoId=Q9GIP4-1; Sequence=VSP_040419; # AltName LAT1L_HUMAN hLAT1 3-transmembrane protein IMAA # AltName LAT1L_HUMAN hLAT1 3-transmembrane protein MMAA # CAUTION Could be the product of a pseudogene. {ECO 0000305}. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0015171 amino acid transmembrane transporter activity; IEA:InterPro. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # HGNC HGNC:24951 SLC7A5P2 # INDUCTION Up-regulated by concanavalin-A stimulation. {ECO:0000269|PubMed 12009310}. # InterPro IPR002293 AA/rel_permease1 # Organism LAT1L_HUMAN Homo sapiens (Human) # PANTHER PTHR11785 PTHR11785 # Pfam PF13520 AA_permease_2 # Proteomes UP000005640 Unplaced # RecName LAT1L_HUMAN Putative L-type amino acid transporter 1-like protein IMAA # SIMILARITY Belongs to the amino acid-polyamine-organocation (APC) superfamily. L-type amino acid transporter (LAT) (TC 2.A.3.8) family. {ECO 0000305}. # SUBCELLULAR LOCATION LAT1L_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # TISSUE SPECIFICITY Expressed in peripheral blood mononuclear cells and lymphoid and myeloid cell lines. {ECO:0000269|PubMed 12009310}. # TopDownProteomics Q9GIP4-3 -. [Q9GIP4-3] BLAST swissprot:LAT1L_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:LAT1L_HUMAN BioCyc ZFISH:G66-30916-MONOMER http://biocyc.org/getid?id=ZFISH:G66-30916-MONOMER DOI 10.1016/S1357-2725(02)00036-5 http://dx.doi.org/10.1016/S1357-2725(02)00036-5 DOI 10.1038/nature03187 http://dx.doi.org/10.1038/nature03187 EMBL AB040413 http://www.ebi.ac.uk/ena/data/view/AB040413 EMBL AB055225 http://www.ebi.ac.uk/ena/data/view/AB055225 EMBL AB055227 http://www.ebi.ac.uk/ena/data/view/AB055227 EMBL AC005632 http://www.ebi.ac.uk/ena/data/view/AC005632 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0015171 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015171 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GeneCards SLC7A5P2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC7A5P2 HGNC HGNC:24951 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:24951 HOGENOM HOG000124567 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000124567&db=HOGENOM6 HOVERGEN HBG061804 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG061804&db=HOVERGEN HPA HPA052673 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA052673 InParanoid Q9GIP4 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9GIP4 InterPro IPR002293 http://www.ebi.ac.uk/interpro/entry/IPR002293 PANTHER PTHR11785 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11785 PSORT swissprot:LAT1L_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:LAT1L_HUMAN PSORT-B swissprot:LAT1L_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:LAT1L_HUMAN PSORT2 swissprot:LAT1L_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:LAT1L_HUMAN Pfam PF13520 http://pfam.xfam.org/family/PF13520 Phobius swissprot:LAT1L_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:LAT1L_HUMAN PhylomeDB Q9GIP4 http://phylomedb.org/?seqid=Q9GIP4 ProteinModelPortal Q9GIP4 http://www.proteinmodelportal.org/query/uniprot/Q9GIP4 PubMed 12009310 http://www.ncbi.nlm.nih.gov/pubmed/12009310 PubMed 15616553 http://www.ncbi.nlm.nih.gov/pubmed/15616553 SMR Q9GIP4 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9GIP4 UniGene Hs.448808 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.448808 UniGene Hs.664952 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.664952 UniProtKB LAT1L_HUMAN http://www.uniprot.org/uniprot/LAT1L_HUMAN UniProtKB-AC Q9GIP4 http://www.uniprot.org/uniprot/Q9GIP4 charge swissprot:LAT1L_HUMAN http://rest.g-language.org/emboss/charge/swissprot:LAT1L_HUMAN epestfind swissprot:LAT1L_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:LAT1L_HUMAN garnier swissprot:LAT1L_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:LAT1L_HUMAN helixturnhelix swissprot:LAT1L_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:LAT1L_HUMAN hmoment swissprot:LAT1L_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:LAT1L_HUMAN iep swissprot:LAT1L_HUMAN http://rest.g-language.org/emboss/iep/swissprot:LAT1L_HUMAN inforesidue swissprot:LAT1L_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:LAT1L_HUMAN neXtProt NX_Q9GIP4 http://www.nextprot.org/db/entry/NX_Q9GIP4 octanol swissprot:LAT1L_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:LAT1L_HUMAN pepcoil swissprot:LAT1L_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:LAT1L_HUMAN pepdigest swissprot:LAT1L_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:LAT1L_HUMAN pepinfo swissprot:LAT1L_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:LAT1L_HUMAN pepnet swissprot:LAT1L_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:LAT1L_HUMAN pepstats swissprot:LAT1L_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:LAT1L_HUMAN pepwheel swissprot:LAT1L_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:LAT1L_HUMAN pepwindow swissprot:LAT1L_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:LAT1L_HUMAN sigcleave swissprot:LAT1L_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:LAT1L_HUMAN ## Database ID URL or Descriptions # AltName TRPC5_HUMAN Transient receptor protein 5 # BioGrid 113075 18 # ChiTaRS TRPC5 human # ENZYME REGULATION Calcium channel activity is enhanced by MYLK, that promotes its subcellular localization at the plasma membrane. {ECO:0000269|PubMed 16284075}. # Ensembl ENST00000262839 ENSP00000262839; ENSG00000072315 # FUNCTION TRPC5_HUMAN Thought to form a receptor-activated non-selective calcium permeant cation channel. Probably is operated by a phosphatidylinositol second messenger system activated by receptor tyrosine kinases or G-protein coupled receptors. Has also been shown to be calcium-selective (By similarity). May also be activated by intracellular calcium store depletion. {ECO 0000250, ECO 0000269|PubMed 16284075}. # GO_component GO:0005737 cytoplasm; IEA:Ensembl. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0030425 dendrite; IEA:Ensembl. # GO_component GO:0030426 growth cone; IEA:Ensembl. # GO_component GO:0034704 calcium channel complex; IDA:UniProtKB. # GO_component GO:0043025 neuronal cell body; IEA:Ensembl. # GO_component GO:0045121 membrane raft; IEA:Ensembl. # GO_function GO:0005262 calcium channel activity; IDA:UniProtKB. # GO_function GO:0015279 store-operated calcium channel activity; TAS:ProtInc. # GO_function GO:0070679 inositol 1,4,5 trisphosphate binding; IEA:Ensembl. # GO_process GO:0006816 calcium ion transport; TAS:ProtInc. # GO_process GO:0006828 manganese ion transport; IBA:GO_Central. # GO_process GO:0007204 positive regulation of cytosolic calcium ion concentration; IEA:Ensembl. # GO_process GO:0007399 nervous system development; TAS:ProtInc. # GO_process GO:0008284 positive regulation of cell proliferation; IEA:Ensembl. # GO_process GO:0010800 positive regulation of peptidyl-threonine phosphorylation; IEA:Ensembl. # GO_process GO:0030182 neuron differentiation; IEA:Ensembl. # GO_process GO:0045773 positive regulation of axon extension; IEA:Ensembl. # GO_process GO:0050774 negative regulation of dendrite morphogenesis; IEA:Ensembl. # GO_process GO:0051480 regulation of cytosolic calcium ion concentration; IBA:GO_Central. # GO_process GO:0070588 calcium ion transmembrane transport; TAS:Reactome. # GO_process GO:1902630 regulation of membrane hyperpolarization; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0030154 cell differentiation # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.25.40.20 -; 1. # Genevisible Q9UL62 HS # HGNC HGNC:12337 TRPC5 # InterPro IPR002110 Ankyrin_rpt # InterPro IPR002153 TRPC_channel # InterPro IPR004729 TRP_channel # InterPro IPR005461 TRPC5_channel # InterPro IPR005821 Ion_trans_dom # InterPro IPR013555 TRP_dom # InterPro IPR020683 Ankyrin_rpt-contain_dom # KEGG_Brite ko04040 Ion channels # MIM 300334 gene # Organism TRPC5_HUMAN Homo sapiens (Human) # PANTHER PTHR10117 PTHR10117 # PANTHER PTHR10117:SF24 PTHR10117:SF24 # PRINTS PR01097 TRNSRECEPTRP # PRINTS PR01646 TRPCHANNEL5 # Pfam PF00520 Ion_trans # Pfam PF08344 TRP_2 # Pfam PF12796 Ank_2 # Proteomes UP000005640 Chromosome X # Reactome R-HSA-3295583 TRP channels # Reactome R-HSA-418890 Role of second messengers in netrin-1 signaling # RecName TRPC5_HUMAN Short transient receptor potential channel 5 # RefSeq NP_036603 NM_012471.2 # RefSeq XP_016885263 XM_017029774.1 # SIMILARITY Belongs to the transient receptor (TC 1.A.4) family. STrpC subfamily. TRPC5 sub-subfamily. {ECO 0000305}. # SIMILARITY Contains 4 ANK repeats. {ECO 0000305}. # SMART SM00248 ANK; 2 # SUBCELLULAR LOCATION TRPC5_HUMAN Cell membrane {ECO 0000269|PubMed 16284075}; Multi-pass membrane protein {ECO 0000269|PubMed 16284075}. # SUBUNIT TRPC5_HUMAN Interacts with TRPC4AP (By similarity). Homotetramer and heterotetramer with TRPC1 and/or TRPC4. Interacts with NHERF (By similarity). Interacts with MX1 and RNF24. Interacts (via C- terminus) with CABP1. Interacts with SESTD1 (via the spectrin 1 repeat). {ECO 0000250, ECO 0000269|PubMed 12032305, ECO 0000269|PubMed 15757897, ECO 0000269|PubMed 15895247, ECO 0000269|PubMed 17850865, ECO 0000269|PubMed 20164195}. # SUPFAM SSF48403 SSF48403 # TCDB 1.A.4.1 the transient receptor potential ca(2+) channel (trp-cc) family # TIGRFAMs TIGR00870 trp # TISSUE SPECIFICITY Expressed in brain with higher levels in fetal brain. Found in cerebellum and occipital pole. {ECO:0000269|PubMed 9687496}. # UCSC uc004epl human # eggNOG ENOG410XQ0Y LUCA # eggNOG KOG3609 Eukaryota BLAST swissprot:TRPC5_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:TRPC5_HUMAN BioCyc ZFISH:ENSG00000072315-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000072315-MONOMER COXPRESdb 7224 http://coxpresdb.jp/data/gene/7224.shtml CleanEx HS_TRPC5 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_TRPC5 DOI 10.1006/geno.1999.5924 http://dx.doi.org/10.1006/geno.1999.5924 DOI 10.1007/s00424-005-1419-1 http://dx.doi.org/10.1007/s00424-005-1419-1 DOI 10.1016/j.ceca.2007.07.009 http://dx.doi.org/10.1016/j.ceca.2007.07.009 DOI 10.1038/nature03440 http://dx.doi.org/10.1038/nature03440 DOI 10.1056/NEJMoa1206524 http://dx.doi.org/10.1056/NEJMoa1206524 DOI 10.1073/pnas.102596199 http://dx.doi.org/10.1073/pnas.102596199 DOI 10.1074/jbc.M109.068304 http://dx.doi.org/10.1074/jbc.M109.068304 DOI 10.1074/jbc.M500391200 http://dx.doi.org/10.1074/jbc.M500391200 DOI 10.1093/emboj/17.15.4274 http://dx.doi.org/10.1093/emboj/17.15.4274 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1113/jphysiol.2005.097998 http://dx.doi.org/10.1113/jphysiol.2005.097998 EMBL AC005191 http://www.ebi.ac.uk/ena/data/view/AC005191 EMBL AC005191 http://www.ebi.ac.uk/ena/data/view/AC005191 EMBL AF054568 http://www.ebi.ac.uk/ena/data/view/AF054568 EMBL AL049563 http://www.ebi.ac.uk/ena/data/view/AL049563 EMBL BC137271 http://www.ebi.ac.uk/ena/data/view/BC137271 EMBL BC137274 http://www.ebi.ac.uk/ena/data/view/BC137274 EMBL CH471120 http://www.ebi.ac.uk/ena/data/view/CH471120 Ensembl ENST00000262839 http://www.ensembl.org/id/ENST00000262839 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0030425 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030425 GO_component GO:0030426 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030426 GO_component GO:0034704 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034704 GO_component GO:0043025 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043025 GO_component GO:0045121 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045121 GO_function GO:0005262 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005262 GO_function GO:0015279 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015279 GO_function GO:0070679 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070679 GO_process GO:0006816 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006816 GO_process GO:0006828 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006828 GO_process GO:0007204 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007204 GO_process GO:0007399 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007399 GO_process GO:0008284 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008284 GO_process GO:0010800 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010800 GO_process GO:0030182 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030182 GO_process GO:0045773 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045773 GO_process GO:0050774 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050774 GO_process GO:0051480 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051480 GO_process GO:0070588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070588 GO_process GO:1902630 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902630 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0030154 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030154 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.25.40.20 http://www.cathdb.info/version/latest/superfamily/1.25.40.20 GeneCards TRPC5 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=TRPC5 GeneID 7224 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=7224 GeneTree ENSGT00760000119180 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119180 HGNC HGNC:12337 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:12337 HOGENOM HOG000020589 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000020589&db=HOGENOM6 HOVERGEN HBG068337 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG068337&db=HOVERGEN InParanoid Q9UL62 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9UL62 IntAct Q9UL62 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9UL62* InterPro IPR002110 http://www.ebi.ac.uk/interpro/entry/IPR002110 InterPro IPR002153 http://www.ebi.ac.uk/interpro/entry/IPR002153 InterPro IPR004729 http://www.ebi.ac.uk/interpro/entry/IPR004729 InterPro IPR005461 http://www.ebi.ac.uk/interpro/entry/IPR005461 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR013555 http://www.ebi.ac.uk/interpro/entry/IPR013555 InterPro IPR020683 http://www.ebi.ac.uk/interpro/entry/IPR020683 Jabion 7224 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=7224 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:7224 http://www.genome.jp/dbget-bin/www_bget?hsa:7224 KEGG_Orthology KO:K04968 http://www.genome.jp/dbget-bin/www_bget?KO:K04968 MIM 300334 http://www.ncbi.nlm.nih.gov/omim/300334 OMA NCSKSEI http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=NCSKSEI OrthoDB EOG091G029I http://cegg.unige.ch/orthodb/results?searchtext=EOG091G029I PANTHER PTHR10117 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10117 PANTHER PTHR10117:SF24 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10117:SF24 PRINTS PR01097 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01097 PRINTS PR01646 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01646 PSORT swissprot:TRPC5_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:TRPC5_HUMAN PSORT-B swissprot:TRPC5_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:TRPC5_HUMAN PSORT2 swissprot:TRPC5_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:TRPC5_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF08344 http://pfam.xfam.org/family/PF08344 Pfam PF12796 http://pfam.xfam.org/family/PF12796 PharmGKB PA37010 http://www.pharmgkb.org/do/serve?objId=PA37010&objCls=Gene Phobius swissprot:TRPC5_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:TRPC5_HUMAN PhylomeDB Q9UL62 http://phylomedb.org/?seqid=Q9UL62 ProteinModelPortal Q9UL62 http://www.proteinmodelportal.org/query/uniprot/Q9UL62 PubMed 10493832 http://www.ncbi.nlm.nih.gov/pubmed/10493832 PubMed 12032305 http://www.ncbi.nlm.nih.gov/pubmed/12032305 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15757897 http://www.ncbi.nlm.nih.gov/pubmed/15757897 PubMed 15772651 http://www.ncbi.nlm.nih.gov/pubmed/15772651 PubMed 15895247 http://www.ncbi.nlm.nih.gov/pubmed/15895247 PubMed 16284075 http://www.ncbi.nlm.nih.gov/pubmed/16284075 PubMed 17850865 http://www.ncbi.nlm.nih.gov/pubmed/17850865 PubMed 20164195 http://www.ncbi.nlm.nih.gov/pubmed/20164195 PubMed 23033978 http://www.ncbi.nlm.nih.gov/pubmed/23033978 PubMed 9687496 http://www.ncbi.nlm.nih.gov/pubmed/9687496 Reactome R-HSA-3295583 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-3295583 Reactome R-HSA-418890 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-418890 RefSeq NP_036603 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_036603 RefSeq XP_016885263 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016885263 SMART SM00248 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00248 STRING 9606.ENSP00000262839 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000262839&targetmode=cogs SUPFAM SSF48403 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48403 TCDB 1.A.4.1 http://www.tcdb.org/search/result.php?tc=1.A.4.1 TIGRFAMs TIGR00870 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00870 UCSC uc004epl http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc004epl&org=rat UniGene Hs.657709 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.657709 UniProtKB TRPC5_HUMAN http://www.uniprot.org/uniprot/TRPC5_HUMAN UniProtKB-AC Q9UL62 http://www.uniprot.org/uniprot/Q9UL62 charge swissprot:TRPC5_HUMAN http://rest.g-language.org/emboss/charge/swissprot:TRPC5_HUMAN eggNOG ENOG410XQ0Y http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XQ0Y eggNOG KOG3609 http://eggnogapi.embl.de/nog_data/html/tree/KOG3609 epestfind swissprot:TRPC5_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:TRPC5_HUMAN garnier swissprot:TRPC5_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:TRPC5_HUMAN helixturnhelix swissprot:TRPC5_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:TRPC5_HUMAN hmoment swissprot:TRPC5_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:TRPC5_HUMAN iep swissprot:TRPC5_HUMAN http://rest.g-language.org/emboss/iep/swissprot:TRPC5_HUMAN inforesidue swissprot:TRPC5_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:TRPC5_HUMAN neXtProt NX_Q9UL62 http://www.nextprot.org/db/entry/NX_Q9UL62 octanol swissprot:TRPC5_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:TRPC5_HUMAN pepcoil swissprot:TRPC5_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:TRPC5_HUMAN pepdigest swissprot:TRPC5_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:TRPC5_HUMAN pepinfo swissprot:TRPC5_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:TRPC5_HUMAN pepnet swissprot:TRPC5_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:TRPC5_HUMAN pepstats swissprot:TRPC5_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:TRPC5_HUMAN pepwheel swissprot:TRPC5_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:TRPC5_HUMAN pepwindow swissprot:TRPC5_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:TRPC5_HUMAN sigcleave swissprot:TRPC5_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:TRPC5_HUMAN ## Database ID URL or Descriptions # AltName KCJ10_HUMAN ATP-dependent inwardly rectifying potassium channel Kir4.1 # AltName KCJ10_HUMAN Inward rectifier K(+) channel Kir1.2 # AltName KCJ10_HUMAN Potassium channel, inwardly rectifying subfamily J member 10 # BioGrid 109968 17 # ChiTaRS KCNJ10 human # DISEASE KCJ10_HUMAN Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAMES) [MIM 612780] A complex disorder characterized by generalized seizures with onset in infancy, delayed psychomotor development, ataxia, sensorineural hearing loss, hypokalemia, metabolic alkalosis, and hypomagnesemia. {ECO 0000269|PubMed 19289823, ECO 0000269|PubMed 19420365, ECO 0000269|PubMed 22612257, ECO 0000269|PubMed 24561201}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DrugBank DB01392 Yohimbine # Ensembl ENST00000368089 ENSP00000357068; ENSG00000177807 # FUNCTION KCJ10_HUMAN May be responsible for potassium buffering action of glial cells in the brain. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by extracellular barium and cesium (By similarity). In the kidney, together with KCNJ16, mediates basolateral K(+) recycling in distal tubules; this process is critical for Na(+) reabsorption at the tubules. {ECO 0000250, ECO 0000305|PubMed 24561201}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0016323 basolateral plasma membrane; IEA:UniProtKB-SubCell. # GO_component GO:0098793 presynapse; IEA:GOC. # GO_function GO:0005242 inward rectifier potassium channel activity; TAS:Reactome. # GO_function GO:0005524 ATP binding; IEA:UniProtKB-KW. # GO_function GO:0015272 ATP-activated inward rectifier potassium channel activity; TAS:ProtInc. # GO_function GO:0015467 G-protein activated inward rectifier potassium channel activity; TAS:Reactome. # GO_process GO:0006813 potassium ion transport; TAS:ProtInc. # GO_process GO:0007601 visual perception; IEA:Ensembl. # GO_process GO:0007628 adult walking behavior; IEA:Ensembl. # GO_process GO:0010107 potassium ion import; IBA:GO_Central. # GO_process GO:0022010 central nervous system myelination; IEA:Ensembl. # GO_process GO:0048169 regulation of long-term neuronal synaptic plasticity; IEA:Ensembl. # GO_process GO:0051935 glutamate reuptake; IEA:Ensembl. # GO_process GO:0055075 potassium ion homeostasis; IEA:Ensembl. # GO_process GO:0060075 regulation of resting membrane potential; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0050877 neurological system process # GOslim_process GO:0055085 transmembrane transport # Gene3D 2.60.40.1400 -; 1. # Genevisible P78508 HS # HGNC HGNC:6256 KCNJ10 # INTERACTION KCJ10_HUMAN F1PK57 MAGI1 (xeno); NbExp=2; IntAct=EBI-9117877, EBI-9118227; Q8IUQ4 SIAH1; NbExp=3; IntAct=EBI-9117877, EBI-747107; # IntAct P78508 5 # InterPro IPR003269 K_chnl_inward-rec_Kir1.2 # InterPro IPR013518 K_chnl_inward-rec_Kir_cyto # InterPro IPR014756 Ig_E-set # InterPro IPR016449 K_chnl_inward-rec_Kir # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00803 [Nervous system disease; Epilepsy; Mental retardation] SeSAME/EAST syndrome # KEGG_Pathway ko04971 Gastric acid secretion # MIM 602208 gene # MIM 612780 phenotype # Organism KCJ10_HUMAN Homo sapiens (Human) # Orphanet 199343 EAST syndrome # Orphanet 705 Pendred syndrome # PANTHER PTHR11767 PTHR11767 # PANTHER PTHR11767:SF21 PTHR11767:SF21 # PIRSF PIRSF005465 GIRK_kir # PRINTS PR01320 KIRCHANNEL # PRINTS PR01322 KIR12CHANNEL # Pfam PF01007 IRK # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-1296041 Activation of G protein gated Potassium channels # Reactome R-HSA-1296067 Potassium transport channels # Reactome R-HSA-997272 Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits # RecName KCJ10_HUMAN ATP-sensitive inward rectifier potassium channel 10 # RefSeq NP_002232 NM_002241.4 # SEQUENCE CAUTION Sequence=AAH34036.2; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ10 subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION KCJ10_HUMAN Membrane {ECO 0000269|PubMed 24561201}; Multi-pass membrane protein. Basolateral cell membrane {ECO 0000269|PubMed 24561201}. Note=In kidney distal convoluted tubules, located in the basolateral membrane where it colocalizes with KCNJ16. {ECO 0000269|PubMed 24561201}. # SUBUNIT KCJ10_HUMAN Heterodimer with Kir5.1/KCNJ16; this interaction is required for KCNJ16 localization to the basolateral membrane in kidney cells. Interacts with MAGI1, alone and possibly as a heterodimer with KCNJ16; this interaction may facilitate KCNJ10/KCNJ16 potassium channel expression at the basolateral membrane in kidney cells (PubMed 24561201). Interacts with PATJ (By similarity). {ECO 0000250|UniProtKB Q9JM63, ECO 0000269|PubMed 24561201}. # SUPFAM SSF81296 SSF81296 # TCDB 1.A.2.1.16 inward rectifier k(+) channel (irk-c) family # TISSUE SPECIFICITY Expressed in kidney (at protein level). {ECO:0000269|PubMed 24561201}. # UCSC uc001fuw human # eggNOG ENOG410XQ62 LUCA # eggNOG KOG3827 Eukaryota BLAST swissprot:KCJ10_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCJ10_HUMAN BioCyc ZFISH:ENSG00000177807-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000177807-MONOMER COXPRESdb 3766 http://coxpresdb.jp/data/gene/3766.shtml CleanEx HS_KCNJ10 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNJ10 DOI 10.1016/S0898-6568(99)00059-5 http://dx.doi.org/10.1016/S0898-6568(99)00059-5 DOI 10.1016/j.febslet.2014.02.024 http://dx.doi.org/10.1016/j.febslet.2014.02.024 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1056/NEJMoa0810276 http://dx.doi.org/10.1056/NEJMoa0810276 DOI 10.1073/pnas.0901749106 http://dx.doi.org/10.1073/pnas.0901749106 DOI 10.1074/jbc.272.1.586 http://dx.doi.org/10.1074/jbc.272.1.586 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1528-1167.2012.03516.x http://dx.doi.org/10.1111/j.1528-1167.2012.03516.x DrugBank DB01392 http://www.drugbank.ca/drugs/DB01392 EMBL AL513302 http://www.ebi.ac.uk/ena/data/view/AL513302 EMBL BC034036 http://www.ebi.ac.uk/ena/data/view/BC034036 EMBL BC131627 http://www.ebi.ac.uk/ena/data/view/BC131627 EMBL CH471121 http://www.ebi.ac.uk/ena/data/view/CH471121 EMBL U52155 http://www.ebi.ac.uk/ena/data/view/U52155 EMBL U73192 http://www.ebi.ac.uk/ena/data/view/U73192 EMBL U73193 http://www.ebi.ac.uk/ena/data/view/U73193 Ensembl ENST00000368089 http://www.ensembl.org/id/ENST00000368089 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016323 GO_component GO:0098793 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0098793 GO_function GO:0005242 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005242 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0015272 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015272 GO_function GO:0015467 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015467 GO_process GO:0006813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006813 GO_process GO:0007601 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007601 GO_process GO:0007628 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007628 GO_process GO:0010107 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010107 GO_process GO:0022010 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022010 GO_process GO:0048169 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048169 GO_process GO:0051935 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051935 GO_process GO:0055075 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055075 GO_process GO:0060075 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060075 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 2.60.40.1400 http://www.cathdb.info/version/latest/superfamily/2.60.40.1400 GeneCards KCNJ10 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNJ10 GeneID 3766 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=3766 GeneTree ENSGT00760000118842 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118842 HGNC HGNC:6256 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6256 HOGENOM HOG000237326 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000237326&db=HOGENOM6 HOVERGEN HBG006178 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG006178&db=HOVERGEN InParanoid P78508 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P78508 IntAct P78508 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P78508* InterPro IPR003269 http://www.ebi.ac.uk/interpro/entry/IPR003269 InterPro IPR013518 http://www.ebi.ac.uk/interpro/entry/IPR013518 InterPro IPR014756 http://www.ebi.ac.uk/interpro/entry/IPR014756 InterPro IPR016449 http://www.ebi.ac.uk/interpro/entry/IPR016449 Jabion 3766 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=3766 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00803 http://www.genome.jp/dbget-bin/www_bget?H00803 KEGG_Gene hsa:3766 http://www.genome.jp/dbget-bin/www_bget?hsa:3766 KEGG_Orthology KO:K05003 http://www.genome.jp/dbget-bin/www_bget?KO:K05003 KEGG_Pathway ko04971 http://www.genome.jp/kegg-bin/show_pathway?ko04971 MIM 602208 http://www.ncbi.nlm.nih.gov/omim/602208 MIM 612780 http://www.ncbi.nlm.nih.gov/omim/612780 OMA GTWFAFG http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=GTWFAFG Orphanet 199343 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=199343 Orphanet 705 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=705 OrthoDB EOG091G08HC http://cegg.unige.ch/orthodb/results?searchtext=EOG091G08HC PANTHER PTHR11767 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11767 PANTHER PTHR11767:SF21 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11767:SF21 PRINTS PR01320 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01320 PRINTS PR01322 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01322 PSORT swissprot:KCJ10_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCJ10_HUMAN PSORT-B swissprot:KCJ10_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCJ10_HUMAN PSORT2 swissprot:KCJ10_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCJ10_HUMAN Pfam PF01007 http://pfam.xfam.org/family/PF01007 PharmGKB PA30043 http://www.pharmgkb.org/do/serve?objId=PA30043&objCls=Gene Phobius swissprot:KCJ10_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCJ10_HUMAN PhylomeDB P78508 http://phylomedb.org/?seqid=P78508 ProteinModelPortal P78508 http://www.proteinmodelportal.org/query/uniprot/P78508 PubMed 10659995 http://www.ncbi.nlm.nih.gov/pubmed/10659995 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 19289823 http://www.ncbi.nlm.nih.gov/pubmed/19289823 PubMed 19420365 http://www.ncbi.nlm.nih.gov/pubmed/19420365 PubMed 22612257 http://www.ncbi.nlm.nih.gov/pubmed/22612257 PubMed 24561201 http://www.ncbi.nlm.nih.gov/pubmed/24561201 PubMed 8995301 http://www.ncbi.nlm.nih.gov/pubmed/8995301 Reactome R-HSA-1296041 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1296041 Reactome R-HSA-1296067 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1296067 Reactome R-HSA-997272 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-997272 RefSeq NP_002232 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_002232 SMR P78508 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P78508 STRING 9606.ENSP00000357068 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000357068&targetmode=cogs SUPFAM SSF81296 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81296 TCDB 1.A.2.1.16 http://www.tcdb.org/search/result.php?tc=1.A.2.1.16 UCSC uc001fuw http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001fuw&org=rat UniGene Hs.408960 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.408960 UniProtKB KCJ10_HUMAN http://www.uniprot.org/uniprot/KCJ10_HUMAN UniProtKB-AC P78508 http://www.uniprot.org/uniprot/P78508 charge swissprot:KCJ10_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCJ10_HUMAN eggNOG ENOG410XQ62 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XQ62 eggNOG KOG3827 http://eggnogapi.embl.de/nog_data/html/tree/KOG3827 epestfind swissprot:KCJ10_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCJ10_HUMAN garnier swissprot:KCJ10_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCJ10_HUMAN helixturnhelix swissprot:KCJ10_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCJ10_HUMAN hmoment swissprot:KCJ10_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCJ10_HUMAN iep swissprot:KCJ10_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCJ10_HUMAN inforesidue swissprot:KCJ10_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCJ10_HUMAN neXtProt NX_P78508 http://www.nextprot.org/db/entry/NX_P78508 octanol swissprot:KCJ10_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCJ10_HUMAN pepcoil swissprot:KCJ10_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCJ10_HUMAN pepdigest swissprot:KCJ10_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCJ10_HUMAN pepinfo swissprot:KCJ10_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCJ10_HUMAN pepnet swissprot:KCJ10_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCJ10_HUMAN pepstats swissprot:KCJ10_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCJ10_HUMAN pepwheel swissprot:KCJ10_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCJ10_HUMAN pepwindow swissprot:KCJ10_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCJ10_HUMAN sigcleave swissprot:KCJ10_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCJ10_HUMAN ## Database ID URL or Descriptions # AltName NMD3A_HUMAN N-methyl-D-aspartate receptor subtype 3A # AltName NMD3A_HUMAN NMDAR-L # BioGrid 125508 2 # DEVELOPMENTAL STAGE NMD3A_HUMAN Expressed in fetal brain. # DrugBank DB00193 Tramadol # DrugBank DB00289 Atomoxetine # DrugBank DB00312 Pentobarbital # DrugBank DB00333 Methadone # DrugBank DB00392 Ethopropazine # DrugBank DB00418 Secobarbital # DrugBank DB00514 Dextromethorphan # DrugBank DB00659 Acamprosate # DrugBank DB00721 Procaine # DrugBank DB00898 Ethanol # DrugBank DB00915 Amantadine # DrugBank DB00949 Felbamate # DrugBank DB00996 Gabapentin # DrugBank DB01043 Memantine # DrugBank DB01159 Halothane # DrugBank DB01161 Chloroprocaine # DrugBank DB01173 Orphenadrine # DrugBank DB01174 Phenobarbital # DrugBank DB01221 Ketamine # DrugBank DB04896 Milnacipran # DrugBank DB06151 Acetylcysteine # DrugBank DB06738 Ketobemidone # Ensembl ENST00000361820 ENSP00000355155; ENSG00000198785 # FUNCTION NMD3A_HUMAN NMDA receptor subtype of glutamate-gated ion channels with reduced single-channel conductance, low calcium permeability and low voltage-dependent sensitivity to magnesium. Mediated by glycine. May play a role in the development of dendritic spines. May play a role in PPP2CB-NMDAR mediated signaling mechanism (By similarity). {ECO 0000250}. # GO_component GO:0014069 postsynaptic density; IEA:UniProtKB-SubCell. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; NAS:UniProtKB. # GO_component GO:0017146 NMDA selective glutamate receptor complex; IDA:UniProtKB. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0043005 neuron projection; IDA:UniProtKB. # GO_component GO:0043025 neuronal cell body; IDA:UniProtKB. # GO_component GO:0045202 synapse; IDA:UniProtKB. # GO_component GO:0045211 postsynaptic membrane; IEA:UniProtKB-SubCell. # GO_function GO:0004972 NMDA glutamate receptor activity; IDA:UniProtKB. # GO_function GO:0005234 extracellular-glutamate-gated ion channel activity; IEA:InterPro. # GO_function GO:0005262 calcium channel activity; IEA:Ensembl. # GO_function GO:0016594 glycine binding; IDA:UniProtKB. # GO_function GO:0042802 identical protein binding; IPI:UniProtKB. # GO_function GO:0051721 protein phosphatase 2A binding; ISS:UniProtKB. # GO_process GO:0006816 calcium ion transport; ISS:UniProtKB. # GO_process GO:0016358 dendrite development; IEA:Ensembl. # GO_process GO:0045471 response to ethanol; IDA:UniProtKB. # GO_process GO:0060134 prepulse inhibition; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0019899 enzyme binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0048856 anatomical structure development # Genevisible Q8TCU5 HS # HGNC HGNC:16767 GRIN3A # InterPro IPR001320 Iontro_rcpt # InterPro IPR001508 Iono_rcpt_met # InterPro IPR019594 Glu/Gly-bd # InterPro IPR028082 Peripla_BP_I # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04080 Neuroactive ligand-receptor interaction # KEGG_Pathway ko04724 Glutamatergic synapse # KEGG_Pathway ko05030 Cocaine addiction # KEGG_Pathway ko05031 Amphetamine addiction # KEGG_Pathway ko05033 Nicotine addiction # KEGG_Pathway ko05034 Alcoholism # MIM 606650 gene # Organism NMD3A_HUMAN Homo sapiens (Human) # PRINTS PR00177 NMDARECEPTOR # PTM NMD3A_HUMAN N-glycosylated. {ECO 0000250}. # Pfam PF00060 Lig_chan # Pfam PF10613 Lig_chan-Glu_bd # Proteomes UP000005640 Chromosome 9 # RecName NMD3A_HUMAN Glutamate receptor ionotropic, NMDA 3A # RefSeq NP_597702 NM_133445.2 # SEQUENCE CAUTION Sequence=BAB85559.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. NR3A/GRIN3A subfamily. {ECO 0000305}. # SMART SM00079 PBPe # SMART SM00918 Lig_chan-Glu_bd # SUBCELLULAR LOCATION NMD3A_HUMAN Cell membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. Cell junction, synapse, postsynaptic cell membrane {ECO 0000250}. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO 0000250}. Note=Enriched in postsynaptic plasma membrane and postsynaptic densities. Requires the presence of GRIN1 to be targeted at the plasma membrane (By similarity). {ECO 0000250}. # SUBUNIT Forms heteromeric channel of a zeta subunit (GRIN1), a epsilon subunit (GRIN2A, GRIN2B, GRIN2C or GRIN2D) and a third subunit (GRIN3A or GRIN3B). Does not form functional homomeric channels. Found in a complex with GRIN1, GRIN2A or GRIN2B and PPP2CB. Probably interacts with PPP2CB. No complex with PPP2CB is detected when NMDARs are stimulated by NMDA (By similarity). {ECO 0000250}. # SUPFAM SSF53822 SSF53822 # UCSC uc004bbp human # eggNOG ENOG410XNUR LUCA # eggNOG KOG1053 Eukaryota BLAST swissprot:NMD3A_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:NMD3A_HUMAN BioCyc ZFISH:G66-33690-MONOMER http://biocyc.org/getid?id=ZFISH:G66-33690-MONOMER COXPRESdb 116443 http://coxpresdb.jp/data/gene/116443.shtml CleanEx HS_GRIN3A http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_GRIN3A DOI 10.1006/geno.2001.6666 http://dx.doi.org/10.1006/geno.2001.6666 DOI 10.1016/S0304-3940(01)02524-1 http://dx.doi.org/10.1016/S0304-3940(01)02524-1 DOI 10.1038/nature02465 http://dx.doi.org/10.1038/nature02465 DOI 10.1093/dnares/8.6.319 http://dx.doi.org/10.1093/dnares/8.6.319 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1196/annals.1300.049 http://dx.doi.org/10.1196/annals.1300.049 DrugBank DB00193 http://www.drugbank.ca/drugs/DB00193 DrugBank DB00289 http://www.drugbank.ca/drugs/DB00289 DrugBank DB00312 http://www.drugbank.ca/drugs/DB00312 DrugBank DB00333 http://www.drugbank.ca/drugs/DB00333 DrugBank DB00392 http://www.drugbank.ca/drugs/DB00392 DrugBank DB00418 http://www.drugbank.ca/drugs/DB00418 DrugBank DB00514 http://www.drugbank.ca/drugs/DB00514 DrugBank DB00659 http://www.drugbank.ca/drugs/DB00659 DrugBank DB00721 http://www.drugbank.ca/drugs/DB00721 DrugBank DB00898 http://www.drugbank.ca/drugs/DB00898 DrugBank DB00915 http://www.drugbank.ca/drugs/DB00915 DrugBank DB00949 http://www.drugbank.ca/drugs/DB00949 DrugBank DB00996 http://www.drugbank.ca/drugs/DB00996 DrugBank DB01043 http://www.drugbank.ca/drugs/DB01043 DrugBank DB01159 http://www.drugbank.ca/drugs/DB01159 DrugBank DB01161 http://www.drugbank.ca/drugs/DB01161 DrugBank DB01173 http://www.drugbank.ca/drugs/DB01173 DrugBank DB01174 http://www.drugbank.ca/drugs/DB01174 DrugBank DB01221 http://www.drugbank.ca/drugs/DB01221 DrugBank DB04896 http://www.drugbank.ca/drugs/DB04896 DrugBank DB06151 http://www.drugbank.ca/drugs/DB06151 DrugBank DB06738 http://www.drugbank.ca/drugs/DB06738 EMBL AB075853 http://www.ebi.ac.uk/ena/data/view/AB075853 EMBL AF416558 http://www.ebi.ac.uk/ena/data/view/AF416558 EMBL AJ416950 http://www.ebi.ac.uk/ena/data/view/AJ416950 EMBL AL356516 http://www.ebi.ac.uk/ena/data/view/AL356516 EMBL AL356516 http://www.ebi.ac.uk/ena/data/view/AL356516 EMBL AL591377 http://www.ebi.ac.uk/ena/data/view/AL591377 EMBL AL591377 http://www.ebi.ac.uk/ena/data/view/AL591377 EMBL BC167432 http://www.ebi.ac.uk/ena/data/view/BC167432 Ensembl ENST00000361820 http://www.ensembl.org/id/ENST00000361820 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0014069 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014069 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0017146 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0017146 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0043005 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043005 GO_component GO:0043025 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043025 GO_component GO:0045202 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045202 GO_component GO:0045211 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045211 GO_function GO:0004972 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004972 GO_function GO:0005234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005234 GO_function GO:0005262 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005262 GO_function GO:0016594 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016594 GO_function GO:0042802 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042802 GO_function GO:0051721 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051721 GO_process GO:0006816 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006816 GO_process GO:0016358 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016358 GO_process GO:0045471 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045471 GO_process GO:0060134 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060134 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GeneCards GRIN3A http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=GRIN3A GeneID 116443 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=116443 GeneTree ENSGT00760000119186 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119186 H-InvDB HIX0008248 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0008248 H-InvDB HIX0125606 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0125606 HGNC HGNC:16767 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:16767 HOGENOM HOG000231528 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231528&db=HOGENOM6 HOVERGEN HBG052634 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052634&db=HOVERGEN InParanoid Q8TCU5 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8TCU5 InterPro IPR001320 http://www.ebi.ac.uk/interpro/entry/IPR001320 InterPro IPR001508 http://www.ebi.ac.uk/interpro/entry/IPR001508 InterPro IPR019594 http://www.ebi.ac.uk/interpro/entry/IPR019594 InterPro IPR028082 http://www.ebi.ac.uk/interpro/entry/IPR028082 Jabion 116443 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=116443 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:116443 http://www.genome.jp/dbget-bin/www_bget?hsa:116443 KEGG_Orthology KO:K05213 http://www.genome.jp/dbget-bin/www_bget?KO:K05213 KEGG_Pathway ko04080 http://www.genome.jp/kegg-bin/show_pathway?ko04080 KEGG_Pathway ko04724 http://www.genome.jp/kegg-bin/show_pathway?ko04724 KEGG_Pathway ko05030 http://www.genome.jp/kegg-bin/show_pathway?ko05030 KEGG_Pathway ko05031 http://www.genome.jp/kegg-bin/show_pathway?ko05031 KEGG_Pathway ko05033 http://www.genome.jp/kegg-bin/show_pathway?ko05033 KEGG_Pathway ko05034 http://www.genome.jp/kegg-bin/show_pathway?ko05034 MIM 606650 http://www.ncbi.nlm.nih.gov/omim/606650 MINT MINT-6630950 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-6630950 OMA TQFGVMP http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=TQFGVMP OrthoDB EOG091G00PT http://cegg.unige.ch/orthodb/results?searchtext=EOG091G00PT PRINTS PR00177 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00177 PSORT swissprot:NMD3A_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:NMD3A_HUMAN PSORT-B swissprot:NMD3A_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:NMD3A_HUMAN PSORT2 swissprot:NMD3A_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:NMD3A_HUMAN Pfam PF00060 http://pfam.xfam.org/family/PF00060 Pfam PF10613 http://pfam.xfam.org/family/PF10613 PharmGKB PA28983 http://www.pharmgkb.org/do/serve?objId=PA28983&objCls=Gene Phobius swissprot:NMD3A_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:NMD3A_HUMAN PhylomeDB Q8TCU5 http://phylomedb.org/?seqid=Q8TCU5 ProteinModelPortal Q8TCU5 http://www.proteinmodelportal.org/query/uniprot/Q8TCU5 PubMed 11588171 http://www.ncbi.nlm.nih.gov/pubmed/11588171 PubMed 11735224 http://www.ncbi.nlm.nih.gov/pubmed/11735224 PubMed 11853319 http://www.ncbi.nlm.nih.gov/pubmed/11853319 PubMed 11880201 http://www.ncbi.nlm.nih.gov/pubmed/11880201 PubMed 14684485 http://www.ncbi.nlm.nih.gov/pubmed/14684485 PubMed 15164053 http://www.ncbi.nlm.nih.gov/pubmed/15164053 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 RefSeq NP_597702 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_597702 SMART SM00079 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00079 SMART SM00918 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00918 STRING 9606.ENSP00000355155 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000355155&targetmode=cogs SUPFAM SSF53822 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF53822 UCSC uc004bbp http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc004bbp&org=rat UniGene Hs.654783 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.654783 UniProtKB NMD3A_HUMAN http://www.uniprot.org/uniprot/NMD3A_HUMAN UniProtKB-AC Q8TCU5 http://www.uniprot.org/uniprot/Q8TCU5 charge swissprot:NMD3A_HUMAN http://rest.g-language.org/emboss/charge/swissprot:NMD3A_HUMAN eggNOG ENOG410XNUR http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XNUR eggNOG KOG1053 http://eggnogapi.embl.de/nog_data/html/tree/KOG1053 epestfind swissprot:NMD3A_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:NMD3A_HUMAN garnier swissprot:NMD3A_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:NMD3A_HUMAN helixturnhelix swissprot:NMD3A_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:NMD3A_HUMAN hmoment swissprot:NMD3A_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:NMD3A_HUMAN iep swissprot:NMD3A_HUMAN http://rest.g-language.org/emboss/iep/swissprot:NMD3A_HUMAN inforesidue swissprot:NMD3A_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:NMD3A_HUMAN neXtProt NX_Q8TCU5 http://www.nextprot.org/db/entry/NX_Q8TCU5 octanol swissprot:NMD3A_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:NMD3A_HUMAN pepcoil swissprot:NMD3A_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:NMD3A_HUMAN pepdigest swissprot:NMD3A_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:NMD3A_HUMAN pepinfo swissprot:NMD3A_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:NMD3A_HUMAN pepnet swissprot:NMD3A_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:NMD3A_HUMAN pepstats swissprot:NMD3A_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:NMD3A_HUMAN pepwheel swissprot:NMD3A_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:NMD3A_HUMAN pepwindow swissprot:NMD3A_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:NMD3A_HUMAN sigcleave swissprot:NMD3A_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:NMD3A_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS TTYH2_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9BSA4-1; Sequence=Displayed; Name=2; IsoId=Q9BSA4-2; Sequence=VSP_040567; Note=No experimental confirmation available.; # BioGrid 125087 5 # CCDS CCDS32717 -. [Q9BSA4-1] # CCDS CCDS45770 -. [Q9BSA4-2] # CDD cd07912 Tweety_N # ChiTaRS TTYH2 human # Ensembl ENST00000269346 ENSP00000269346; ENSG00000141540. [Q9BSA4-1] # Ensembl ENST00000441391 ENSP00000394576; ENSG00000141540. [Q9BSA4-2] # ExpressionAtlas Q9BSA4 baseline and differential # FUNCTION TTYH2_HUMAN Probable large-conductance Ca(2+)-activated chloride channel. May play a role in Ca(2+) signal transduction. May be involved in cell proliferation and cell aggregation. {ECO 0000269|PubMed 15010458}. # GO_component GO:0005886 plasma membrane; IEA:UniProtKB-SubCell. # GO_component GO:0034707 chloride channel complex; IEA:UniProtKB-KW. # GO_function GO:0005254 chloride channel activity; IEA:UniProtKB-KW. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # Genevisible Q9BSA4 HS # HGNC HGNC:13877 TTYH2 # IntAct Q9BSA4 3 # InterPro IPR006990 Tweety # MIM 608855 gene # Organism TTYH2_HUMAN Homo sapiens (Human) # PANTHER PTHR12424 PTHR12424 # Pfam PF04906 Tweety # Proteomes UP000005640 Chromosome 17 # Reactome R-HSA-2672351 Stimuli-sensing channels # RecName TTYH2_HUMAN Protein tweety homolog 2 # RefSeq NP_116035 NM_032646.5. [Q9BSA4-1] # RefSeq NP_443101 NM_052869.1. [Q9BSA4-2] # SEQUENCE CAUTION Sequence=AAH05168.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAC03579.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the tweety family. {ECO 0000305}. # SUBCELLULAR LOCATION TTYH2_HUMAN Cell membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. # TCDB 1.A.48.1 the anion channel tweety (tweety) family # TISSUE SPECIFICITY TTYH2_HUMAN Expressed at higher level in brain and testis and at lower levels in heart, ovary, spleen and peripheral blood leukocytes. Up-regulated in 13 of 16 renal cell carcinoma samples examined. Up-regulated in colon carcinoma. {ECO 0000269|PubMed 11597145, ECO 0000269|PubMed 17569141}. # UCSC uc002jkc human. [Q9BSA4-1] # eggNOG ENOG410ZNTN LUCA # eggNOG KOG4433 Eukaryota BLAST swissprot:TTYH2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:TTYH2_HUMAN BioCyc ZFISH:ENSG00000141540-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000141540-MONOMER COXPRESdb 94015 http://coxpresdb.jp/data/gene/94015.shtml CleanEx HS_TTYH2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_TTYH2 DOI 10.1006/geno.2001.6629 http://dx.doi.org/10.1006/geno.2001.6629 DOI 10.1016/j.cell.2006.09.026 http://dx.doi.org/10.1016/j.cell.2006.09.026 DOI 10.1038/nature04689 http://dx.doi.org/10.1038/nature04689 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.M313813200 http://dx.doi.org/10.1074/jbc.M313813200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 DOI 10.3748/wjg.v13.i19.2717 http://dx.doi.org/10.3748/wjg.v13.i19.2717 EMBL AC100786 http://www.ebi.ac.uk/ena/data/view/AC100786 EMBL AF319952 http://www.ebi.ac.uk/ena/data/view/AF319952 EMBL AK091085 http://www.ebi.ac.uk/ena/data/view/AK091085 EMBL AK126955 http://www.ebi.ac.uk/ena/data/view/AK126955 EMBL BC005168 http://www.ebi.ac.uk/ena/data/view/BC005168 EMBL BC107492 http://www.ebi.ac.uk/ena/data/view/BC107492 EMBL BC107602 http://www.ebi.ac.uk/ena/data/view/BC107602 EMBL BX647912 http://www.ebi.ac.uk/ena/data/view/BX647912 Ensembl ENST00000269346 http://www.ensembl.org/id/ENST00000269346 Ensembl ENST00000441391 http://www.ensembl.org/id/ENST00000441391 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0034707 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034707 GO_function GO:0005254 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005254 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GeneCards TTYH2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=TTYH2 GeneID 94015 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=94015 GeneTree ENSGT00390000010182 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000010182 HGNC HGNC:13877 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:13877 HOVERGEN HBG102014 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG102014&db=HOVERGEN InParanoid Q9BSA4 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9BSA4 IntAct Q9BSA4 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9BSA4* InterPro IPR006990 http://www.ebi.ac.uk/interpro/entry/IPR006990 Jabion 94015 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=94015 KEGG_Gene hsa:94015 http://www.genome.jp/dbget-bin/www_bget?hsa:94015 MIM 608855 http://www.ncbi.nlm.nih.gov/omim/608855 MINT MINT-2814893 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-2814893 OMA RSKCLLA http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=RSKCLLA OrthoDB EOG091G05MR http://cegg.unige.ch/orthodb/results?searchtext=EOG091G05MR PANTHER PTHR12424 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12424 PSORT swissprot:TTYH2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:TTYH2_HUMAN PSORT-B swissprot:TTYH2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:TTYH2_HUMAN PSORT2 swissprot:TTYH2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:TTYH2_HUMAN Pfam PF04906 http://pfam.xfam.org/family/PF04906 PharmGKB PA37823 http://www.pharmgkb.org/do/serve?objId=PA37823&objCls=Gene Phobius swissprot:TTYH2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:TTYH2_HUMAN PhylomeDB Q9BSA4 http://phylomedb.org/?seqid=Q9BSA4 ProteinModelPortal Q9BSA4 http://www.proteinmodelportal.org/query/uniprot/Q9BSA4 PubMed 11597145 http://www.ncbi.nlm.nih.gov/pubmed/11597145 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15010458 http://www.ncbi.nlm.nih.gov/pubmed/15010458 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16625196 http://www.ncbi.nlm.nih.gov/pubmed/16625196 PubMed 17081983 http://www.ncbi.nlm.nih.gov/pubmed/17081983 PubMed 17569141 http://www.ncbi.nlm.nih.gov/pubmed/17569141 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 Reactome R-HSA-2672351 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2672351 RefSeq NP_116035 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_116035 RefSeq NP_443101 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_443101 STRING 9606.ENSP00000269346 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000269346&targetmode=cogs TCDB 1.A.48.1 http://www.tcdb.org/search/result.php?tc=1.A.48.1 UCSC uc002jkc http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002jkc&org=rat UniGene Hs.27935 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.27935 UniProtKB TTYH2_HUMAN http://www.uniprot.org/uniprot/TTYH2_HUMAN UniProtKB-AC Q9BSA4 http://www.uniprot.org/uniprot/Q9BSA4 charge swissprot:TTYH2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:TTYH2_HUMAN eggNOG ENOG410ZNTN http://eggnogapi.embl.de/nog_data/html/tree/ENOG410ZNTN eggNOG KOG4433 http://eggnogapi.embl.de/nog_data/html/tree/KOG4433 epestfind swissprot:TTYH2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:TTYH2_HUMAN garnier swissprot:TTYH2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:TTYH2_HUMAN helixturnhelix swissprot:TTYH2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:TTYH2_HUMAN hmoment swissprot:TTYH2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:TTYH2_HUMAN iep swissprot:TTYH2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:TTYH2_HUMAN inforesidue swissprot:TTYH2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:TTYH2_HUMAN neXtProt NX_Q9BSA4 http://www.nextprot.org/db/entry/NX_Q9BSA4 octanol swissprot:TTYH2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:TTYH2_HUMAN pepcoil swissprot:TTYH2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:TTYH2_HUMAN pepdigest swissprot:TTYH2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:TTYH2_HUMAN pepinfo swissprot:TTYH2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:TTYH2_HUMAN pepnet swissprot:TTYH2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:TTYH2_HUMAN pepstats swissprot:TTYH2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:TTYH2_HUMAN pepwheel swissprot:TTYH2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:TTYH2_HUMAN pepwindow swissprot:TTYH2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:TTYH2_HUMAN sigcleave swissprot:TTYH2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:TTYH2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS MRP9_HUMAN Event=Alternative splicing; Named isoforms=5; Name=1; IsoId=Q96J65-1; Sequence=Displayed; Name=2; Synonyms=A, C, D; IsoId=Q96J65-2; Sequence=VSP_021084, VSP_021088, VSP_021092; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=3; Synonyms=B; IsoId=Q96J65-3; Sequence=VSP_021084, VSP_021088, VSP_021090, VSP_021091; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=4; IsoId=Q96J65-4; Sequence=VSP_021084, VSP_021086, VSP_021087; Note=No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=5; IsoId=Q96J65-5; Sequence=VSP_021084, VSP_021085, VSP_021089, VSP_021092; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; # AltName MRP9_HUMAN ATP-binding cassette sub-family C member 12 # CCDS CCDS10730 -. [Q96J65-1] # DEVELOPMENTAL STAGE Expressed in fetal tissues. {ECO:0000269|PubMed 11688999}. # Ensembl ENST00000311303 ENSP00000311030; ENSG00000140798. [Q96J65-1] # Ensembl ENST00000497206 ENSP00000431232; ENSG00000140798. [Q96J65-2] # Ensembl ENST00000529084 ENSP00000434510; ENSG00000140798. [Q96J65-4] # Ensembl ENST00000529504 ENSP00000433333; ENSG00000140798. [Q96J65-3] # Ensembl ENST00000532494 ENSP00000437047; ENSG00000140798. [Q96J65-2] # Ensembl ENST00000534418 ENSP00000431354; ENSG00000140798. [Q96J65-5] # ExpressionAtlas Q96J65 baseline and differential # FUNCTION MRP9_HUMAN Probable transporter. {ECO 0000250}. # GO_component GO:0005739 mitochondrion; IEA:Ensembl. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0005524 ATP binding; IEA:UniProtKB-KW. # GO_function GO:0042626 ATPase activity, coupled to transmembrane movement of substances; IEA:InterPro. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005739 mitochondrion # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # Gene3D 3.40.50.300 -; 2. # Genevisible Q96J65 HS # HGNC HGNC:14640 ABCC12 # InterPro IPR003439 ABC_transporter-like # InterPro IPR003593 AAA+_ATPase # InterPro IPR011527 ABC1_TM_dom # InterPro IPR017871 ABC_transporter_CS # InterPro IPR027417 P-loop_NTPase # InterPro IPR030250 MRP9 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02000 Transporters # KEGG_Pathway ko02010 ABC transporters # MIM 607041 gene # Organism MRP9_HUMAN Homo sapiens (Human) # PANTHER PTHR24223:SF10 PTHR24223:SF10; 2 # PROSITE PS00211 ABC_TRANSPORTER_1; 2 # PROSITE PS50893 ABC_TRANSPORTER_2; 2 # PROSITE PS50929 ABC_TM1F; 2 # Pfam PF00005 ABC_tran; 2 # Pfam PF00664 ABC_membrane; 2 # Proteomes UP000005640 Chromosome 16 # RecName MRP9_HUMAN Multidrug resistance-associated protein 9 # RefSeq NP_150229 NM_033226.2. [Q96J65-1] # SIMILARITY Belongs to the ABC transporter superfamily. ABCC family. Conjugate transporter (TC 3.A.1.208) subfamily. {ECO 0000305}. # SIMILARITY Contains 2 ABC transmembrane type-1 domains. {ECO:0000255|PROSITE-ProRule PRU00441}. # SIMILARITY Contains 2 ABC transporter domains. {ECO:0000255|PROSITE-ProRule PRU00434}. # SMART SM00382 AAA; 2 # SUBCELLULAR LOCATION MRP9_HUMAN Membrane {ECO 0000255|PROSITE- ProRule PRU00441}; Multi-pass membrane protein {ECO 0000255|PROSITE-ProRule PRU00441}. # SUPFAM SSF52540 SSF52540; 2 # SUPFAM SSF90123 SSF90123; 2 # TCDB 3.A.1.208.29 the atp-binding cassette (abc) superfamily # TISSUE SPECIFICITY MRP9_HUMAN Expressed in testis (at protein level). Widely expressed at low level. Isoform 5 is specifically expressed in brain, testis and breast cancer cells. {ECO 0000269|PubMed 11483364, ECO 0000269|PubMed 11688999, ECO 0000269|PubMed 12011458}. # UCSC uc002efc human. [Q96J65-1] # WEB RESOURCE MRP9_HUMAN Name=ABCMdb; Note=Database for mutations in ABC proteins; URL="http //abcmutations.hegelab.org/proteinDetails?uniprot_id=Q96J65"; # eggNOG COG1132 LUCA # eggNOG KOG0054 Eukaryota BLAST swissprot:MRP9_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:MRP9_HUMAN COXPRESdb 94160 http://coxpresdb.jp/data/gene/94160.shtml CleanEx HS_ABCC12 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ABCC12 DOI 10.1006/bbrc.2001.5865 http://dx.doi.org/10.1006/bbrc.2001.5865 DOI 10.1016/S0378-1119(01)00572-8 http://dx.doi.org/10.1016/S0378-1119(01)00572-8 DOI 10.1038/nature03187 http://dx.doi.org/10.1038/nature03187 DOI 10.1073/pnas.102187299 http://dx.doi.org/10.1073/pnas.102187299 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AC096996 http://www.ebi.ac.uk/ena/data/view/AC096996 EMBL AF395908 http://www.ebi.ac.uk/ena/data/view/AF395908 EMBL AF395909 http://www.ebi.ac.uk/ena/data/view/AF395909 EMBL AF411577 http://www.ebi.ac.uk/ena/data/view/AF411577 EMBL AF411578 http://www.ebi.ac.uk/ena/data/view/AF411578 EMBL AY040220 http://www.ebi.ac.uk/ena/data/view/AY040220 EMBL AY196326 http://www.ebi.ac.uk/ena/data/view/AY196326 EMBL BC036378 http://www.ebi.ac.uk/ena/data/view/BC036378 Ensembl ENST00000311303 http://www.ensembl.org/id/ENST00000311303 Ensembl ENST00000497206 http://www.ensembl.org/id/ENST00000497206 Ensembl ENST00000529084 http://www.ensembl.org/id/ENST00000529084 Ensembl ENST00000529504 http://www.ensembl.org/id/ENST00000529504 Ensembl ENST00000532494 http://www.ensembl.org/id/ENST00000532494 Ensembl ENST00000534418 http://www.ensembl.org/id/ENST00000534418 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0042626 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042626 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 Gene3D 3.40.50.300 http://www.cathdb.info/version/latest/superfamily/3.40.50.300 GeneCards ABCC12 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ABCC12 GeneID 94160 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=94160 GeneTree ENSGT00860000133722 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00860000133722 H-InvDB HIX0026945 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0026945 HGNC HGNC:14640 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:14640 HOVERGEN HBG108314 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG108314&db=HOVERGEN HPA HPA043100 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA043100 InParanoid Q96J65 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q96J65 IntAct Q96J65 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q96J65* InterPro IPR003439 http://www.ebi.ac.uk/interpro/entry/IPR003439 InterPro IPR003593 http://www.ebi.ac.uk/interpro/entry/IPR003593 InterPro IPR011527 http://www.ebi.ac.uk/interpro/entry/IPR011527 InterPro IPR017871 http://www.ebi.ac.uk/interpro/entry/IPR017871 InterPro IPR027417 http://www.ebi.ac.uk/interpro/entry/IPR027417 InterPro IPR030250 http://www.ebi.ac.uk/interpro/entry/IPR030250 Jabion 94160 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=94160 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Gene hsa:94160 http://www.genome.jp/dbget-bin/www_bget?hsa:94160 KEGG_Orthology KO:K05672 http://www.genome.jp/dbget-bin/www_bget?KO:K05672 KEGG_Pathway ko02010 http://www.genome.jp/kegg-bin/show_pathway?ko02010 MIM 607041 http://www.ncbi.nlm.nih.gov/omim/607041 OMA VPECTHP http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=VPECTHP OrthoDB EOG091G01TC http://cegg.unige.ch/orthodb/results?searchtext=EOG091G01TC PANTHER PTHR24223:SF10 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24223:SF10 PROSITE PS00211 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00211 PROSITE PS50893 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50893 PROSITE PS50929 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50929 PSORT swissprot:MRP9_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:MRP9_HUMAN PSORT-B swissprot:MRP9_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:MRP9_HUMAN PSORT2 swissprot:MRP9_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:MRP9_HUMAN Pfam PF00005 http://pfam.xfam.org/family/PF00005 Pfam PF00664 http://pfam.xfam.org/family/PF00664 PharmGKB PA24394 http://www.pharmgkb.org/do/serve?objId=PA24394&objCls=Gene Phobius swissprot:MRP9_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:MRP9_HUMAN PhylomeDB Q96J65 http://phylomedb.org/?seqid=Q96J65 ProteinModelPortal Q96J65 http://www.proteinmodelportal.org/query/uniprot/Q96J65 PubMed 11483364 http://www.ncbi.nlm.nih.gov/pubmed/11483364 PubMed 11688999 http://www.ncbi.nlm.nih.gov/pubmed/11688999 PubMed 12011458 http://www.ncbi.nlm.nih.gov/pubmed/12011458 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15616553 http://www.ncbi.nlm.nih.gov/pubmed/15616553 RefSeq NP_150229 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_150229 SMART SM00382 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00382 SMR Q96J65 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q96J65 STRING 9606.ENSP00000311030 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000311030&targetmode=cogs SUPFAM SSF52540 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52540 SUPFAM SSF90123 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF90123 TCDB 3.A.1.208.29 http://www.tcdb.org/search/result.php?tc=3.A.1.208.29 UCSC uc002efc http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002efc&org=rat UniGene Hs.410111 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.410111 UniProtKB MRP9_HUMAN http://www.uniprot.org/uniprot/MRP9_HUMAN UniProtKB-AC Q96J65 http://www.uniprot.org/uniprot/Q96J65 charge swissprot:MRP9_HUMAN http://rest.g-language.org/emboss/charge/swissprot:MRP9_HUMAN eggNOG COG1132 http://eggnogapi.embl.de/nog_data/html/tree/COG1132 eggNOG KOG0054 http://eggnogapi.embl.de/nog_data/html/tree/KOG0054 epestfind swissprot:MRP9_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:MRP9_HUMAN garnier swissprot:MRP9_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:MRP9_HUMAN helixturnhelix swissprot:MRP9_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:MRP9_HUMAN hmoment swissprot:MRP9_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:MRP9_HUMAN iep swissprot:MRP9_HUMAN http://rest.g-language.org/emboss/iep/swissprot:MRP9_HUMAN inforesidue swissprot:MRP9_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:MRP9_HUMAN neXtProt NX_Q96J65 http://www.nextprot.org/db/entry/NX_Q96J65 octanol swissprot:MRP9_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:MRP9_HUMAN pepcoil swissprot:MRP9_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:MRP9_HUMAN pepdigest swissprot:MRP9_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:MRP9_HUMAN pepinfo swissprot:MRP9_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:MRP9_HUMAN pepnet swissprot:MRP9_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:MRP9_HUMAN pepstats swissprot:MRP9_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:MRP9_HUMAN pepwheel swissprot:MRP9_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:MRP9_HUMAN pepwindow swissprot:MRP9_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:MRP9_HUMAN sigcleave swissprot:MRP9_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:MRP9_HUMAN ## Database ID URL or Descriptions # AltName ATPD_HUMAN F-ATPase delta subunit # BioGrid 106998 50 # CDD cd12152 F1-ATPase_delta # ChiTaRS ATP5D human # DrugBank DB00228 Enflurane # DrugBank DB00753 Isoflurane # DrugBank DB01028 Methoxyflurane # DrugBank DB01159 Halothane # DrugBank DB01189 Desflurane # DrugBank DB01236 Sevoflurane # Ensembl ENST00000215375 ENSP00000215375; ENSG00000099624 # Ensembl ENST00000395633 ENSP00000378995; ENSG00000099624 # Ensembl ENST00000591660 ENSP00000464863; ENSG00000099624 # ExpressionAtlas P30049 baseline and differential # FUNCTION ATPD_HUMAN Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP turnover in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(1) domain and of the central stalk which is part of the complex rotary element. Rotation of the central stalk against the surrounding alpha(3)beta(3) subunits leads to hydrolysis of ATP in three separate catalytic sites on the beta subunits. # GO_component GO:0000275 mitochondrial proton-transporting ATP synthase complex, catalytic core F(1); NAS:UniProtKB. # GO_component GO:0005739 mitochondrion; NAS:UniProtKB. # GO_component GO:0005743 mitochondrial inner membrane; ISS:UniProtKB. # GO_component GO:0005753 mitochondrial proton-transporting ATP synthase complex; IDA:UniProtKB. # GO_component GO:0005759 mitochondrial matrix; TAS:Reactome. # GO_function GO:0005215 transporter activity; NAS:UniProtKB. # GO_function GO:0022857 transmembrane transporter activity; IC:UniProtKB. # GO_function GO:0046933 proton-transporting ATP synthase activity, rotational mechanism; IEA:InterPro. # GO_process GO:0006119 oxidative phosphorylation; NAS:UniProtKB. # GO_process GO:0006754 ATP biosynthetic process; NAS:UniProtKB. # GO_process GO:0015986 ATP synthesis coupled proton transport; IBA:GO_Central. # GO_process GO:0042776 mitochondrial ATP synthesis coupled proton transport; NAS:UniProtKB. # GO_process GO:0046688 response to copper ion; NAS:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005739 mitochondrion # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006091 generation of precursor metabolites and energy # GOslim_process GO:0008150 biological_process # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0044281 small molecule metabolic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 2.60.15.10 -; 1. # Genevisible P30049 HS # HAMAP MF_00530 ATP_synth_epsil_bac # HGNC HGNC:837 ATP5D # IntAct P30049 15 # InterPro IPR001469 ATP_synth_F1_dsu/esu # InterPro IPR020546 ATP_synth_F1_dsu/esu_N # InterPro IPR020547 ATP_synth_F1_dsu/esu_C # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Brite ko01000 Enzymes # KEGG_Pathway ko00190 Oxidative phosphorylation # KEGG_Pathway ko05010 Alzheimer's disease # KEGG_Pathway ko05012 Parkinson's disease # KEGG_Pathway ko05016 Huntington's disease # MIM 603150 gene # Organism ATPD_HUMAN Homo sapiens (Human) # PANTHER PTHR13822 PTHR13822 # PIR S22348 S22348 # Pfam PF02823 ATP-synt_DE_N # ProDom PD000944 ATPase_F1-cplx_dsu/esu # Proteomes UP000005640 Chromosome 19 # Reactome R-HSA-163210 Formation of ATP by chemiosmotic coupling # RecName ATPD_HUMAN ATP synthase subunit delta, mitochondrial # RefSeq NP_001001975 NM_001001975.1 # RefSeq NP_001678 NM_001687.4 # SIMILARITY Belongs to the ATPase epsilon chain family. {ECO 0000305}. # SUBCELLULAR LOCATION ATPD_HUMAN Mitochondrion. Mitochondrion inner membrane. # SUBUNIT F-type ATPases have 2 components, CF(1) - the catalytic core - and CF(0) - the membrane proton channel. CF(1) has five subunits: alpha(3), beta(3), gamma(1), delta(1), epsilon(1). CF(0) seems to have nine subunits a, b, c, d, e, f, g, F6 and 8 (or A6L). Component of an ATP synthase complex composed of ATP5F1, ATP5G1, ATP5E, ATP5H, ATP5I, ATP5J, ATP5J2, MT-ATP6, MT-ATP8, ATP5A1, ATP5B, ATP5D, ATP5C1, ATP5O, ATP5L, USMG5 and MP68 (By similarity). {ECO:0000250}. # SUPFAM SSF46604 SSF46604 # SUPFAM SSF51344 SSF51344 # TIGRFAMs TIGR01216 ATP_synt_epsi # UCSC uc002lrn human # eggNOG COG0355 LUCA # eggNOG KOG1758 Eukaryota BLAST swissprot:ATPD_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ATPD_HUMAN BioCyc ZFISH:HS01900-MONOMER http://biocyc.org/getid?id=ZFISH:HS01900-MONOMER COG COG0355 http://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=COG0355 COXPRESdb 513 http://coxpresdb.jp/data/gene/513.shtml CleanEx HS_ATP5D http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ATP5D DOI 10.1002/elps.11501301201 http://dx.doi.org/10.1002/elps.11501301201 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1016/0167-4781(92)90477-H http://dx.doi.org/10.1016/0167-4781(92)90477-H DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1038/nature02399 http://dx.doi.org/10.1038/nature02399 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DrugBank DB00228 http://www.drugbank.ca/drugs/DB00228 DrugBank DB00753 http://www.drugbank.ca/drugs/DB00753 DrugBank DB01028 http://www.drugbank.ca/drugs/DB01028 DrugBank DB01159 http://www.drugbank.ca/drugs/DB01159 DrugBank DB01189 http://www.drugbank.ca/drugs/DB01189 DrugBank DB01236 http://www.drugbank.ca/drugs/DB01236 EMBL AC004221 http://www.ebi.ac.uk/ena/data/view/AC004221 EMBL BC002389 http://www.ebi.ac.uk/ena/data/view/BC002389 EMBL BC004426 http://www.ebi.ac.uk/ena/data/view/BC004426 EMBL BC018079 http://www.ebi.ac.uk/ena/data/view/BC018079 EMBL CH471139 http://www.ebi.ac.uk/ena/data/view/CH471139 EMBL CH471139 http://www.ebi.ac.uk/ena/data/view/CH471139 EMBL CH471139 http://www.ebi.ac.uk/ena/data/view/CH471139 EMBL CR542218 http://www.ebi.ac.uk/ena/data/view/CR542218 EMBL S87916 http://www.ebi.ac.uk/ena/data/view/S87916 EMBL S87918 http://www.ebi.ac.uk/ena/data/view/S87918 EMBL X63422 http://www.ebi.ac.uk/ena/data/view/X63422 EMBL X63423 http://www.ebi.ac.uk/ena/data/view/X63423 Ensembl ENST00000215375 http://www.ensembl.org/id/ENST00000215375 Ensembl ENST00000395633 http://www.ensembl.org/id/ENST00000395633 Ensembl ENST00000591660 http://www.ensembl.org/id/ENST00000591660 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000275 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000275 GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0005753 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005753 GO_component GO:0005759 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005759 GO_function GO:0005215 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005215 GO_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GO_function GO:0046933 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046933 GO_process GO:0006119 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006119 GO_process GO:0006754 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006754 GO_process GO:0015986 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015986 GO_process GO:0042776 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042776 GO_process GO:0046688 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046688 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006091 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 2.60.15.10 http://www.cathdb.info/version/latest/superfamily/2.60.15.10 GeneCards ATP5D http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ATP5D GeneID 513 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=513 GeneTree ENSGT00390000017576 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000017576 HAMAP MF_00530 http://hamap.expasy.org/unirule/MF_00530 HGNC HGNC:837 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:837 HOGENOM HOG000216023 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000216023&db=HOGENOM6 HOVERGEN HBG001856 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG001856&db=HOVERGEN HPA HPA002865 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA002865 InParanoid P30049 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P30049 IntAct P30049 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P30049* InterPro IPR001469 http://www.ebi.ac.uk/interpro/entry/IPR001469 InterPro IPR020546 http://www.ebi.ac.uk/interpro/entry/IPR020546 InterPro IPR020547 http://www.ebi.ac.uk/interpro/entry/IPR020547 Jabion 513 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=513 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00002 http://www.genome.jp/dbget-bin/www_bget?ko00002 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Gene hsa:513 http://www.genome.jp/dbget-bin/www_bget?hsa:513 KEGG_Orthology KO:K02134 http://www.genome.jp/dbget-bin/www_bget?KO:K02134 KEGG_Pathway ko00190 http://www.genome.jp/kegg-bin/show_pathway?ko00190 KEGG_Pathway ko05010 http://www.genome.jp/kegg-bin/show_pathway?ko05010 KEGG_Pathway ko05012 http://www.genome.jp/kegg-bin/show_pathway?ko05012 KEGG_Pathway ko05016 http://www.genome.jp/kegg-bin/show_pathway?ko05016 MIM 603150 http://www.ncbi.nlm.nih.gov/omim/603150 OMA PQMSFTF http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=PQMSFTF OrthoDB EOG091G1AP6 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G1AP6 PANTHER PTHR13822 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR13822 PSORT swissprot:ATPD_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ATPD_HUMAN PSORT-B swissprot:ATPD_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ATPD_HUMAN PSORT2 swissprot:ATPD_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ATPD_HUMAN Pfam PF02823 http://pfam.xfam.org/family/PF02823 PharmGKB PA25127 http://www.pharmgkb.org/do/serve?objId=PA25127&objCls=Gene Phobius swissprot:ATPD_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ATPD_HUMAN PhylomeDB P30049 http://phylomedb.org/?seqid=P30049 ProteinModelPortal P30049 http://www.proteinmodelportal.org/query/uniprot/P30049 PubMed 1286669 http://www.ncbi.nlm.nih.gov/pubmed/1286669 PubMed 15057824 http://www.ncbi.nlm.nih.gov/pubmed/15057824 PubMed 1531933 http://www.ncbi.nlm.nih.gov/pubmed/1531933 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 Reactome R-HSA-163210 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-163210 RefSeq NP_001001975 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001001975 RefSeq NP_001678 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001678 SMR P30049 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P30049 STRING 9606.ENSP00000215375 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000215375&targetmode=cogs STRING COG0355 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=COG0355&targetmode=cogs SUPFAM SSF46604 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF46604 SUPFAM SSF51344 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF51344 SWISS-2DPAGE P30049 http://world-2dpage.expasy.org/swiss-2dpage/protein/ac=P30049 TIGRFAMs TIGR01216 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01216 UCSC uc002lrn http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002lrn&org=rat UniGene Hs.418668 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.418668 UniProtKB ATPD_HUMAN http://www.uniprot.org/uniprot/ATPD_HUMAN UniProtKB-AC P30049 http://www.uniprot.org/uniprot/P30049 charge swissprot:ATPD_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ATPD_HUMAN eggNOG COG0355 http://eggnogapi.embl.de/nog_data/html/tree/COG0355 eggNOG KOG1758 http://eggnogapi.embl.de/nog_data/html/tree/KOG1758 epestfind swissprot:ATPD_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ATPD_HUMAN garnier swissprot:ATPD_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ATPD_HUMAN helixturnhelix swissprot:ATPD_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ATPD_HUMAN hmoment swissprot:ATPD_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ATPD_HUMAN iep swissprot:ATPD_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ATPD_HUMAN inforesidue swissprot:ATPD_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ATPD_HUMAN neXtProt NX_P30049 http://www.nextprot.org/db/entry/NX_P30049 octanol swissprot:ATPD_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ATPD_HUMAN pepcoil swissprot:ATPD_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ATPD_HUMAN pepdigest swissprot:ATPD_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ATPD_HUMAN pepinfo swissprot:ATPD_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ATPD_HUMAN pepnet swissprot:ATPD_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ATPD_HUMAN pepstats swissprot:ATPD_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ATPD_HUMAN pepwheel swissprot:ATPD_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ATPD_HUMAN pepwindow swissprot:ATPD_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ATPD_HUMAN sigcleave swissprot:ATPD_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ATPD_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS CRCM1_HUMAN Event=Alternative initiation; Named isoforms=2; Name=alpha; IsoId=Q96D31-1; Sequence=Displayed; Name=beta; IsoId=Q96D31-2; Sequence=VSP_044421; # AltName CRCM1_HUMAN Protein orai-1 # AltName CRCM1_HUMAN Transmembrane protein 142A # BioGrid 124321 3 # DISEASE CRCM1_HUMAN Immunodeficiency 9 (IMD9) [MIM 612782] An immune disorder characterized by recurrent infections, impaired activation and proliferative response of T-cells, decreased T-cell production of cytokines, and normal lymphocytes counts and serum immunoglobulin levels. In surviving patients ectodermal dysplasia with anhidrosis and non-progressive myopathy may be observed. {ECO 0000269|PubMed 16147976, ECO 0000269|PubMed 16582901}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE CRCM1_HUMAN Myopathy, tubular aggregate, 2 (TAM2) [MIM 615883] A rare congenital myopathy characterized by regular arrays of membrane tubules on muscle biopsies without additional histopathological hallmarks. Tubular aggregates in muscle are structures of variable appearance consisting of an outer tubule containing either one or more microtubule-like structures or amorphous material. TAM2 patients have myopathy and pupillary abnormalities. {ECO 0000269|PubMed 24591628}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000616379 ENSP00000480616; ENSG00000276045 # FUNCTION CRCM1_HUMAN Ca(2+) release-activated Ca(2+) (CRAC) channel subunit which mediates Ca(2+) influx following depletion of intracellular Ca(2+) stores and channel activation by the Ca(2+) sensor, STIM1 (PubMed 16582901, PubMed 16645049, PubMed 16733527, PubMed 16766533, PubMed 16807233, PubMed 19249086, PubMed 23307288, PubMed 24351972, PubMed 24591628). CRAC channels are the main pathway for Ca(2+) influx in T-cells and promote the immune response to pathogens by activating the transcription factor NFAT (PubMed 16582901). {ECO 0000269|PubMed 16582901, ECO 0000269|PubMed 16645049, ECO 0000269|PubMed 16733527, ECO 0000269|PubMed 16766533, ECO 0000269|PubMed 16807233, ECO 0000269|PubMed 19249086, ECO 0000269|PubMed 23307288, ECO 0000269|PubMed 24351972, ECO 0000269|PubMed 24591628}. # GO_component GO:0005776 autophagosome; IEA:UniProtKB-SubCell. # GO_component GO:0005887 integral component of plasma membrane; IDA:UniProtKB. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0031410 cytoplasmic vesicle; IEA:UniProtKB-KW. # GO_function GO:0015279 store-operated calcium channel activity; IDA:UniProtKB. # GO_process GO:0002115 store-operated calcium entry; IBA:GO_Central. # GO_process GO:0002250 adaptive immune response; IEA:UniProtKB-KW. # GO_process GO:0051924 regulation of calcium ion transport; IMP:UniProtKB. # GO_process GO:0051928 positive regulation of calcium ion transport; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005773 vacuole # GOslim_component GO:0031410 cytoplasmic vesicle # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0002376 immune system process # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # Genevisible Q96D31 HS # HGNC HGNC:25896 ORAI1 # INTERACTION CRCM1_HUMAN Self; NbExp=2; IntAct=EBI-2291476, EBI-2291476; O75185 ATP2C2; NbExp=10; IntAct=EBI-2291476, EBI-2939806; Q9BSW2 CRACR2A; NbExp=6; IntAct=EBI-2291476, EBI-739773; Q9BRQ5 ORAI3; NbExp=3; IntAct=EBI-2291476, EBI-4279484; Q13586 STIM1; NbExp=16; IntAct=EBI-2291476, EBI-448878; # IntAct Q96D31 5 # InterPro IPR012446 CRAC_channel # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Disease H00093 [Primary immunodeficiency] CD8 deficiency # KEGG_Pathway ko04020 Calcium signaling pathway # KEGG_Pathway ko05340 Primary immunodeficiency # MIM 610277 gene # MIM 612782 phenotype # MIM 615883 phenotype # MISCELLANEOUS In Greek mythology, the 'Orai' are the keepers of the gates of heaven Eunomia (order or harmony), Dike (justice) and Eirene (peace). # Organism CRCM1_HUMAN Homo sapiens (Human) # Orphanet 2593 Tubular aggregate myopathy # Orphanet 317428 Combined immunodeficiency due to ORAI1 deficiency # PANTHER PTHR31501 PTHR31501; 2 # PDB 2MAK NMR; -; B/D=272-292 # PDB 4EHQ X-ray; 1.90 A; G=69-88 # PTM CRCM1_HUMAN N-glycosylated. {ECO 0000269|PubMed 19249086}. # PTM CRCM1_HUMAN Ubiquitinated. {ECO 0000269|PubMed 23307288}. # Pfam PF07856 Orai-1 # Proteomes UP000005640 Unplaced # Reactome R-HSA-139853 Elevation of cytosolic Ca2+ levels # Reactome R-HSA-5578775 Ion homeostasis # Reactome R-HSA-983695 Antigen activates B Cell Receptor (BCR) leading to generation of second messengers # RecName CRCM1_HUMAN Calcium release-activated calcium channel protein 1 # RefSeq NP_116179 NM_032790.3. [Q96D31-1] # SEQUENCE CAUTION Sequence=AAH13386.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAI04634.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; Sequence=BAB55068.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; # SIMILARITY Belongs to the Orai family. {ECO 0000305}. # SUBCELLULAR LOCATION CRCM1_HUMAN Cell membrane {ECO 0000269|PubMed 16582901, ECO 0000269|PubMed 16645049, ECO 0000269|PubMed 19249086, ECO 0000269|PubMed 22641696, ECO 0000269|PubMed 23307288, ECO 0000269|PubMed 24351972}; Multi-pass membrane protein {ECO 0000269|PubMed 16582901, ECO 0000269|PubMed 16645049, ECO 0000269|PubMed 19249086, ECO 0000269|PubMed 22641696, ECO 0000269|PubMed 24351972}. Cytoplasmic vesicle, autophagosome {ECO 0000269|PubMed 23307288}. Note=Isoform beta is more mobile in the plasma membrane. Colocalizes with UBQLN1 in the autophagosome. {ECO 0000269|PubMed 23307288}. # SUBUNIT CRCM1_HUMAN Interacts with STIM1 and STIM2; this regulates channel activity (PubMed 17905723, PubMed 19249086, PubMed 24351972). Interacts with CALM; this may displace STIM1 and STIM2 and might thereby modulate channel activity (PubMed 23109337). Interacts with CRACR2A/EFCAB4B; the interaction is direct and takes place in absence of Ca(2+) (PubMed 20418871). Forms a complex with CRACR2A/EFCAB4B and STIM1 at low concentration of Ca(2+), the complex dissociates at elevated Ca(2+) concentrations. Interacts with ASPH (isoform 8) (PubMed 22586105). Interacts with SLC35G1 (PubMed 22084111). Interacts with UBQLN1 (PubMed 23307288). {ECO 0000269|PubMed 17905723, ECO 0000269|PubMed 19249086, ECO 0000269|PubMed 20418871, ECO 0000269|PubMed 22084111, ECO 0000269|PubMed 22586105, ECO 0000269|PubMed 23109337, ECO 0000269|PubMed 23307288, ECO 0000269|PubMed 24351972}. # TCDB 1.A.52.1 the ca(2+) release-activated ca(2+) (crac) channel (crac-c) family # TopDownProteomics Q96D31-2 -. [Q96D31-2] # UCSC uc031zps human. [Q96D31-1] # WEB RESOURCE CRCM1_HUMAN Name=ORAI1base; Note=ORAI1 mutation db; URL="http //structure.bmc.lu.se/idbase/ORAI1base/"; # eggNOG ENOG4110DSB LUCA # eggNOG KOG4298 Eukaryota BLAST swissprot:CRCM1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CRCM1_HUMAN BioCyc ZFISH:G66-32411-MONOMER http://biocyc.org/getid?id=ZFISH:G66-32411-MONOMER COXPRESdb 84876 http://coxpresdb.jp/data/gene/84876.shtml CleanEx HS_ORAI1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ORAI1 DIP DIP-46289N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-46289N DOI 10.1007/s10059-013-2268-7 http://dx.doi.org/10.1007/s10059-013-2268-7 DOI 10.1016/j.cell.2009.02.014 http://dx.doi.org/10.1016/j.cell.2009.02.014 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1038/nature04702 http://dx.doi.org/10.1038/nature04702 DOI 10.1038/ncb1435 http://dx.doi.org/10.1038/ncb1435 DOI 10.1038/ncb2045 http://dx.doi.org/10.1038/ncb2045 DOI 10.1038/ncomms3963 http://dx.doi.org/10.1038/ncomms3963 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1073/pnas.1117231108 http://dx.doi.org/10.1073/pnas.1117231108 DOI 10.1073/pnas.1200667109 http://dx.doi.org/10.1073/pnas.1200667109 DOI 10.1073/pnas.1312520111 http://dx.doi.org/10.1073/pnas.1312520111 DOI 10.1074/jbc.C600126200 http://dx.doi.org/10.1074/jbc.C600126200 DOI 10.1074/jbc.M112.380964 http://dx.doi.org/10.1074/jbc.M112.380964 DOI 10.1074/jbc.M604589200 http://dx.doi.org/10.1074/jbc.M604589200 DOI 10.1084/jem.20050687 http://dx.doi.org/10.1084/jem.20050687 DOI 10.1096/fj.07-9449com http://dx.doi.org/10.1096/fj.07-9449com DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1127883 http://dx.doi.org/10.1126/science.1127883 DOI 10.1242/jcs.104919 http://dx.doi.org/10.1242/jcs.104919 EMBL AK027372 http://www.ebi.ac.uk/ena/data/view/AK027372 EMBL BC013386 http://www.ebi.ac.uk/ena/data/view/BC013386 EMBL BC015369 http://www.ebi.ac.uk/ena/data/view/BC015369 EMBL BC075831 http://www.ebi.ac.uk/ena/data/view/BC075831 EMBL BC104633 http://www.ebi.ac.uk/ena/data/view/BC104633 Ensembl ENST00000616379 http://www.ensembl.org/id/ENST00000616379 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005776 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005776 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0031410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410 GO_function GO:0015279 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015279 GO_process GO:0002115 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002115 GO_process GO:0002250 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002250 GO_process GO:0051924 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051924 GO_process GO:0051928 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051928 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005773 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005773 GOslim_component GO:0031410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0002376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002376 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GeneCards ORAI1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ORAI1 GeneID 84876 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=84876 HGNC HGNC:25896 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:25896 HOGENOM HOG000246925 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000246925&db=HOGENOM6 HOVERGEN HBG081343 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG081343&db=HOVERGEN HPA HPA016583 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA016583 HPA HPA061823 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA061823 InParanoid Q96D31 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q96D31 IntAct Q96D31 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q96D31* InterPro IPR012446 http://www.ebi.ac.uk/interpro/entry/IPR012446 Jabion 84876 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=84876 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Disease H00093 http://www.genome.jp/dbget-bin/www_bget?H00093 KEGG_Gene hsa:84876 http://www.genome.jp/dbget-bin/www_bget?hsa:84876 KEGG_Orthology KO:K16056 http://www.genome.jp/dbget-bin/www_bget?KO:K16056 KEGG_Pathway ko04020 http://www.genome.jp/kegg-bin/show_pathway?ko04020 KEGG_Pathway ko05340 http://www.genome.jp/kegg-bin/show_pathway?ko05340 MIM 610277 http://www.ncbi.nlm.nih.gov/omim/610277 MIM 612782 http://www.ncbi.nlm.nih.gov/omim/612782 MIM 615883 http://www.ncbi.nlm.nih.gov/omim/615883 MINT MINT-6780078 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-6780078 OMA DAEHDYP http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=DAEHDYP Orphanet 2593 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=2593 Orphanet 317428 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=317428 OrthoDB EOG091G0E4P http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0E4P PANTHER PTHR31501 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR31501 PDB 2MAK http://www.ebi.ac.uk/pdbe-srv/view/entry/2MAK PDB 4EHQ http://www.ebi.ac.uk/pdbe-srv/view/entry/4EHQ PDBsum 2MAK http://www.ebi.ac.uk/pdbsum/2MAK PDBsum 4EHQ http://www.ebi.ac.uk/pdbsum/4EHQ PSORT swissprot:CRCM1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CRCM1_HUMAN PSORT-B swissprot:CRCM1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CRCM1_HUMAN PSORT2 swissprot:CRCM1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CRCM1_HUMAN Pfam PF07856 http://pfam.xfam.org/family/PF07856 PharmGKB PA162398445 http://www.pharmgkb.org/do/serve?objId=PA162398445&objCls=Gene Phobius swissprot:CRCM1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CRCM1_HUMAN PhylomeDB Q96D31 http://phylomedb.org/?seqid=Q96D31 ProteinModelPortal Q96D31 http://www.proteinmodelportal.org/query/uniprot/Q96D31 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16147976 http://www.ncbi.nlm.nih.gov/pubmed/16147976 PubMed 16582901 http://www.ncbi.nlm.nih.gov/pubmed/16582901 PubMed 16645049 http://www.ncbi.nlm.nih.gov/pubmed/16645049 PubMed 16733527 http://www.ncbi.nlm.nih.gov/pubmed/16733527 PubMed 16766533 http://www.ncbi.nlm.nih.gov/pubmed/16766533 PubMed 16807233 http://www.ncbi.nlm.nih.gov/pubmed/16807233 PubMed 17905723 http://www.ncbi.nlm.nih.gov/pubmed/17905723 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 19249086 http://www.ncbi.nlm.nih.gov/pubmed/19249086 PubMed 20418871 http://www.ncbi.nlm.nih.gov/pubmed/20418871 PubMed 22084111 http://www.ncbi.nlm.nih.gov/pubmed/22084111 PubMed 22586105 http://www.ncbi.nlm.nih.gov/pubmed/22586105 PubMed 22641696 http://www.ncbi.nlm.nih.gov/pubmed/22641696 PubMed 23109337 http://www.ncbi.nlm.nih.gov/pubmed/23109337 PubMed 23307288 http://www.ncbi.nlm.nih.gov/pubmed/23307288 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 24351972 http://www.ncbi.nlm.nih.gov/pubmed/24351972 PubMed 24591628 http://www.ncbi.nlm.nih.gov/pubmed/24591628 Reactome R-HSA-139853 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-139853 Reactome R-HSA-5578775 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5578775 Reactome R-HSA-983695 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-983695 RefSeq NP_116179 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_116179 SMR Q96D31 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q96D31 STRING 9606.ENSP00000328216 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000328216&targetmode=cogs TCDB 1.A.52.1 http://www.tcdb.org/search/result.php?tc=1.A.52.1 UCSC uc031zps http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc031zps&org=rat UniGene Hs.55148 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.55148 UniProtKB CRCM1_HUMAN http://www.uniprot.org/uniprot/CRCM1_HUMAN UniProtKB-AC Q96D31 http://www.uniprot.org/uniprot/Q96D31 charge swissprot:CRCM1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CRCM1_HUMAN eggNOG ENOG4110DSB http://eggnogapi.embl.de/nog_data/html/tree/ENOG4110DSB eggNOG KOG4298 http://eggnogapi.embl.de/nog_data/html/tree/KOG4298 epestfind swissprot:CRCM1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CRCM1_HUMAN garnier swissprot:CRCM1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CRCM1_HUMAN helixturnhelix swissprot:CRCM1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CRCM1_HUMAN hmoment swissprot:CRCM1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CRCM1_HUMAN iep swissprot:CRCM1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CRCM1_HUMAN inforesidue swissprot:CRCM1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CRCM1_HUMAN neXtProt NX_Q96D31 http://www.nextprot.org/db/entry/NX_Q96D31 octanol swissprot:CRCM1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CRCM1_HUMAN pepcoil swissprot:CRCM1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CRCM1_HUMAN pepdigest swissprot:CRCM1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CRCM1_HUMAN pepinfo swissprot:CRCM1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CRCM1_HUMAN pepnet swissprot:CRCM1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CRCM1_HUMAN pepstats swissprot:CRCM1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CRCM1_HUMAN pepwheel swissprot:CRCM1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CRCM1_HUMAN pepwindow swissprot:CRCM1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CRCM1_HUMAN sigcleave swissprot:CRCM1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CRCM1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S39A1_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NY26-1; Sequence=Displayed; Name=2; IsoId=Q9NY26-2; Sequence=VSP_056522; Note=No experimental confirmation available.; # AltName S39A1_HUMAN Solute carrier family 39 member 1 # AltName S39A1_HUMAN Zinc-iron-regulated transporter-like # AltName S39A1_HUMAN Zrt- and Irt-like protein 1 # BioGrid 118050 23 # CCDS CCDS1055 -. [Q9NY26-1] # ChiTaRS SLC39A1 human # Ensembl ENST00000310483 ENSP00000309710; ENSG00000143570. [Q9NY26-1] # Ensembl ENST00000356205 ENSP00000348535; ENSG00000143570. [Q9NY26-1] # Ensembl ENST00000368621 ENSP00000357610; ENSG00000143570. [Q9NY26-1] # Ensembl ENST00000368623 ENSP00000357612; ENSG00000143570. [Q9NY26-1] # Ensembl ENST00000617697 ENSP00000479421; ENSG00000143570. [Q9NY26-1] # Ensembl ENST00000621013 ENSP00000484182; ENSG00000143570. [Q9NY26-1] # ExpressionAtlas Q9NY26 baseline and differential # FUNCTION S39A1_HUMAN Mediates zinc uptake. May function as a major endogenous zinc uptake transporter in many cells of the body. Responsible for the rapid uptake and accumulation of physiologically effective zinc in prostate cells. {ECO 0000269|PubMed 12888280}. # GO_component GO:0005789 endoplasmic reticulum membrane; IEA:UniProtKB-SubCell. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0016020 membrane; TAS:ProtInc. # GO_component GO:0016021 integral component of membrane; TAS:ProtInc. # GO_function GO:0005385 zinc ion transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0022890 inorganic cation transmembrane transporter activity; TAS:ProtInc. # GO_process GO:0001701 in utero embryonic development; IEA:Ensembl. # GO_process GO:0006812 cation transport; TAS:ProtInc. # GO_process GO:0048701 embryonic cranial skeleton morphogenesis; IEA:Ensembl. # GO_process GO:0060173 limb development; IEA:Ensembl. # GO_process GO:0071577 zinc II ion transmembrane transport; IMP:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0009790 embryo development # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0055085 transmembrane transport # Genevisible Q9NY26 HS # HGNC HGNC:12876 SLC39A1 # IntAct Q9NY26 3 # InterPro IPR003689 ZIP # KEGG_Brite ko02001 Solute carrier family # MIM 604740 gene # MISCELLANEOUS S39A1_HUMAN Inhibited by Ni(2+) ions. Fe(2+) ions do not inhibit zinc uptake. # Organism S39A1_HUMAN Homo sapiens (Human) # Pfam PF02535 Zip # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-442380 Zinc influx into cells by the SLC39 gene family # RecName S39A1_HUMAN Zinc transporter ZIP1 # RefSeq NP_001258886 NM_001271957.1. [Q9NY26-1] # RefSeq NP_001258887 NM_001271958.1. [Q9NY26-1] # RefSeq NP_001258888 NM_001271959.1. [Q9NY26-1] # RefSeq NP_001258889 NM_001271960.1. [Q9NY26-1] # RefSeq NP_001258890 NM_001271961.1 # RefSeq NP_055252 NM_014437.4. [Q9NY26-1] # SEQUENCE CAUTION Sequence=AAD27717.1; Type=Frameshift; Positions=16, 40; Evidence={ECO 0000305}; # SIMILARITY Belongs to the ZIP transporter (TC 2.A.5) family. {ECO 0000305}. # SUBCELLULAR LOCATION S39A1_HUMAN Cell membrane {ECO 0000269|PubMed 11696349}; Multi-pass membrane protein {ECO 0000269|PubMed 11696349}. Endoplasmic reticulum membrane {ECO 0000269|PubMed 11696349}; Multi-pass membrane protein {ECO 0000269|PubMed 11696349}. Note=Shows a vesicular localization corresponding partially to the endoplasmic reticulum in several epithelial cell lines. # TCDB 2.A.5.3 the zinc (zn(2+))-iron (fe(2+)) permease (zip) family # TISSUE SPECIFICITY Ubiquitous. Expressed in most adult and fetal tissues including the epidermis. {ECO:0000269|PubMed 10610721}. # UCSC uc001fdi human. [Q9NY26-1] # WEB RESOURCE S39A1_HUMAN Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http //atlasgeneticsoncology.org/Genes/SLC39A1ID46571ch1q21.html"; # eggNOG ENOG4111GP2 LUCA # eggNOG KOG1558 Eukaryota BLAST swissprot:S39A1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S39A1_HUMAN BioCyc ZFISH:ENSG00000143570-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000143570-MONOMER COXPRESdb 27173 http://coxpresdb.jp/data/gene/27173.shtml CleanEx HS_SLC39A1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC39A1 DOI 10.1006/geno.1999.5993 http://dx.doi.org/10.1006/geno.1999.5993 DOI 10.1016/S0014-5793(01)02950-7 http://dx.doi.org/10.1016/S0014-5793(01)02950-7 DOI 10.1016/S0162-0134(03)00249-6 http://dx.doi.org/10.1016/S0162-0134(03)00249-6 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.M101772200 http://dx.doi.org/10.1074/jbc.M101772200 DOI 10.1093/dnares/12.2.117 http://dx.doi.org/10.1093/dnares/12.2.117 DOI 10.1101/gr.10.5.703 http://dx.doi.org/10.1101/gr.10.5.703 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AF132942 http://www.ebi.ac.uk/ena/data/view/AF132942 EMBL AF151829 http://www.ebi.ac.uk/ena/data/view/AF151829 EMBL AJ243649 http://www.ebi.ac.uk/ena/data/view/AJ243649 EMBL AJ243650 http://www.ebi.ac.uk/ena/data/view/AJ243650 EMBL AJ271671 http://www.ebi.ac.uk/ena/data/view/AJ271671 EMBL AK074943 http://www.ebi.ac.uk/ena/data/view/AK074943 EMBL AK075257 http://www.ebi.ac.uk/ena/data/view/AK075257 EMBL AK293389 http://www.ebi.ac.uk/ena/data/view/AK293389 EMBL AL358472 http://www.ebi.ac.uk/ena/data/view/AL358472 EMBL BC002563 http://www.ebi.ac.uk/ena/data/view/BC002563 EMBL BC003152 http://www.ebi.ac.uk/ena/data/view/BC003152 EMBL BC007886 http://www.ebi.ac.uk/ena/data/view/BC007886 EMBL BC014303 http://www.ebi.ac.uk/ena/data/view/BC014303 EMBL CH471121 http://www.ebi.ac.uk/ena/data/view/CH471121 EMBL CH471121 http://www.ebi.ac.uk/ena/data/view/CH471121 EMBL CH471121 http://www.ebi.ac.uk/ena/data/view/CH471121 EMBL CH471121 http://www.ebi.ac.uk/ena/data/view/CH471121 EMBL CH471121 http://www.ebi.ac.uk/ena/data/view/CH471121 Ensembl ENST00000310483 http://www.ensembl.org/id/ENST00000310483 Ensembl ENST00000356205 http://www.ensembl.org/id/ENST00000356205 Ensembl ENST00000368621 http://www.ensembl.org/id/ENST00000368621 Ensembl ENST00000368623 http://www.ensembl.org/id/ENST00000368623 Ensembl ENST00000617697 http://www.ensembl.org/id/ENST00000617697 Ensembl ENST00000621013 http://www.ensembl.org/id/ENST00000621013 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005789 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005789 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005385 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005385 GO_function GO:0022890 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022890 GO_process GO:0001701 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001701 GO_process GO:0006812 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006812 GO_process GO:0048701 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048701 GO_process GO:0060173 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060173 GO_process GO:0071577 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071577 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0009790 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009790 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC39A1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC39A1 GeneID 27173 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=27173 GeneTree ENSGT00530000063242 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000063242 HGNC HGNC:12876 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:12876 HOGENOM HOG000236331 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000236331&db=HOGENOM6 HOVERGEN HBG015174 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG015174&db=HOVERGEN HPA HPA016506 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA016506 InParanoid Q9NY26 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9NY26 IntAct Q9NY26 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9NY26* InterPro IPR003689 http://www.ebi.ac.uk/interpro/entry/IPR003689 Jabion 27173 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=27173 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:27173 http://www.genome.jp/dbget-bin/www_bget?hsa:27173 KEGG_Orthology KO:K14709 http://www.genome.jp/dbget-bin/www_bget?KO:K14709 MIM 604740 http://www.ncbi.nlm.nih.gov/omim/604740 OMA WEGAGIP http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=WEGAGIP OrthoDB EOG091G0DW2 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0DW2 PSORT swissprot:S39A1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S39A1_HUMAN PSORT-B swissprot:S39A1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S39A1_HUMAN PSORT2 swissprot:S39A1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S39A1_HUMAN Pfam PF02535 http://pfam.xfam.org/family/PF02535 PharmGKB PA37465 http://www.pharmgkb.org/do/serve?objId=PA37465&objCls=Gene Phobius swissprot:S39A1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S39A1_HUMAN PhylomeDB Q9NY26 http://phylomedb.org/?seqid=Q9NY26 ProteinModelPortal Q9NY26 http://www.proteinmodelportal.org/query/uniprot/Q9NY26 PubMed 10610721 http://www.ncbi.nlm.nih.gov/pubmed/10610721 PubMed 10810093 http://www.ncbi.nlm.nih.gov/pubmed/10810093 PubMed 11301334 http://www.ncbi.nlm.nih.gov/pubmed/11301334 PubMed 11696349 http://www.ncbi.nlm.nih.gov/pubmed/11696349 PubMed 12888280 http://www.ncbi.nlm.nih.gov/pubmed/12888280 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16303743 http://www.ncbi.nlm.nih.gov/pubmed/16303743 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 Reactome R-HSA-442380 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-442380 RefSeq NP_001258886 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001258886 RefSeq NP_001258887 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001258887 RefSeq NP_001258888 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001258888 RefSeq NP_001258889 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001258889 RefSeq NP_001258890 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001258890 RefSeq NP_055252 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_055252 STRING 9606.ENSP00000309710 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000309710&targetmode=cogs TCDB 2.A.5.3 http://www.tcdb.org/search/result.php?tc=2.A.5.3 UCSC uc001fdi http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001fdi&org=rat UniGene Hs.743291 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.743291 UniGene Hs.7854 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.7854 UniProtKB S39A1_HUMAN http://www.uniprot.org/uniprot/S39A1_HUMAN UniProtKB-AC Q9NY26 http://www.uniprot.org/uniprot/Q9NY26 charge swissprot:S39A1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S39A1_HUMAN eggNOG ENOG4111GP2 http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111GP2 eggNOG KOG1558 http://eggnogapi.embl.de/nog_data/html/tree/KOG1558 epestfind swissprot:S39A1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S39A1_HUMAN garnier swissprot:S39A1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S39A1_HUMAN helixturnhelix swissprot:S39A1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S39A1_HUMAN hmoment swissprot:S39A1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S39A1_HUMAN iep swissprot:S39A1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S39A1_HUMAN inforesidue swissprot:S39A1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S39A1_HUMAN neXtProt NX_Q9NY26 http://www.nextprot.org/db/entry/NX_Q9NY26 octanol swissprot:S39A1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S39A1_HUMAN pepcoil swissprot:S39A1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S39A1_HUMAN pepdigest swissprot:S39A1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S39A1_HUMAN pepinfo swissprot:S39A1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S39A1_HUMAN pepnet swissprot:S39A1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S39A1_HUMAN pepstats swissprot:S39A1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S39A1_HUMAN pepwheel swissprot:S39A1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S39A1_HUMAN pepwindow swissprot:S39A1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S39A1_HUMAN sigcleave swissprot:S39A1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S39A1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS P2RX7_HUMAN Event=Alternative splicing; Named isoforms=8; Name=A; IsoId=Q99572-1; Sequence=Displayed; Name=B; Synonyms=Delta-C, cytoplasmic tail deleted; IsoId=Q99572-2; Sequence=VSP_047784, VSP_047785; Note=Predominant form in many tissues.; Name=C; IsoId=Q99572-3; Sequence=VSP_047781, VSP_047782; Name=D; IsoId=Q99572-4; Sequence=VSP_047777, VSP_047780; Name=E; IsoId=Q99572-5; Sequence=VSP_047783, VSP_047784, VSP_047785; Name=F; IsoId=Q99572-6; Sequence=VSP_047778, VSP_047779; Name=G; IsoId=Q99572-7; Sequence=VSP_047776, VSP_047784, VSP_047785; Name=H; Synonyms=Delta-TM1; IsoId=Q99572-8; Sequence=VSP_047776; Note=Non-functional channel.; # AltName P2RX7_HUMAN ATP receptor # AltName P2RX7_HUMAN P2Z receptor # AltName P2RX7_HUMAN Purinergic receptor # BioGrid 111066 5 # CCDS CCDS9213 -. [Q99572-1] # ChiTaRS P2RX7 human # Ensembl ENST00000328963 ENSP00000330696; ENSG00000089041. [Q99572-1] # Ensembl ENST00000535250 ENSP00000442572; ENSG00000089041. [Q99572-2] # Ensembl ENST00000535600 ENSP00000442470; ENSG00000089041. [Q99572-5] # Ensembl ENST00000541022 ENSP00000441230; ENSG00000089041. [Q99572-3] # Ensembl ENST00000541716 ENSP00000437729; ENSG00000089041. [Q99572-3] # ExpressionAtlas Q99572 baseline and differential # FUNCTION P2RX7_HUMAN Receptor for ATP that acts as a ligand-gated ion channel. Responsible for ATP-dependent lysis of macrophages through the formation of membrane pores permeable to large molecules. Could function in both fast synaptic transmission and the ATP-mediated lysis of antigen-presenting cells. # GO_component GO:0005639 integral component of nuclear inner membrane; IBA:GO_Central. # GO_component GO:0005737 cytoplasm; ISS:BHF-UCL. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0005887 integral component of plasma membrane; IC:BHF-UCL. # GO_component GO:0005911 cell-cell junction; IEA:Ensembl. # GO_component GO:0009897 external side of plasma membrane; IEA:Ensembl. # GO_component GO:0016020 membrane; IDA:BHF-UCL. # GO_component GO:0031594 neuromuscular junction; IEA:Ensembl. # GO_component GO:0032059 bleb; ISS:BHF-UCL. # GO_component GO:0043025 neuronal cell body; IEA:Ensembl. # GO_component GO:0098793 presynapse; IEA:GOC. # GO_function GO:0001530 lipopolysaccharide binding; ISS:BHF-UCL. # GO_function GO:0001614 purinergic nucleotide receptor activity; IDA:BHF-UCL. # GO_function GO:0004931 extracellular ATP-gated cation channel activity; IDA:BHF-UCL. # GO_function GO:0005102 receptor binding; ISS:BHF-UCL. # GO_function GO:0005524 ATP binding; IC:BHF-UCL. # GO_function GO:0042803 protein homodimerization activity; NAS:BHF-UCL. # GO_process GO:0000187 activation of MAPK activity; IEA:Ensembl. # GO_process GO:0000902 cell morphogenesis; IEA:Ensembl. # GO_process GO:0001845 phagolysosome assembly; IEA:Ensembl. # GO_process GO:0001916 positive regulation of T cell mediated cytotoxicity; IEA:Ensembl. # GO_process GO:0002028 regulation of sodium ion transport; ISS:BHF-UCL. # GO_process GO:0006468 protein phosphorylation; IEA:Ensembl. # GO_process GO:0006509 membrane protein ectodomain proteolysis; IEA:Ensembl. # GO_process GO:0006649 phospholipid transfer to membrane; IEA:Ensembl. # GO_process GO:0006900 membrane budding; IEA:Ensembl. # GO_process GO:0006954 inflammatory response; IEA:Ensembl. # GO_process GO:0007005 mitochondrion organization; IEA:Ensembl. # GO_process GO:0007166 cell surface receptor signaling pathway; ISS:BHF-UCL. # GO_process GO:0007596 blood coagulation; TAS:Reactome. # GO_process GO:0009612 response to mechanical stimulus; IEA:Ensembl. # GO_process GO:0010043 response to zinc ion; IEA:Ensembl. # GO_process GO:0010524 positive regulation of calcium ion transport into cytosol; IDA:BHF-UCL. # GO_process GO:0010628 positive regulation of gene expression; IMP:CACAO. # GO_process GO:0014049 positive regulation of glutamate secretion; IEA:Ensembl. # GO_process GO:0014054 positive regulation of gamma-aminobutyric acid secretion; IEA:Ensembl. # GO_process GO:0016079 synaptic vesicle exocytosis; IEA:Ensembl. # GO_process GO:0016485 protein processing; IEA:Ensembl. # GO_process GO:0017121 phospholipid scrambling; IDA:UniProtKB. # GO_process GO:0019233 sensory perception of pain; ISS:BHF-UCL. # GO_process GO:0019835 cytolysis; IEA:Ensembl. # GO_process GO:0030501 positive regulation of bone mineralization; ISS:BHF-UCL. # GO_process GO:0031668 cellular response to extracellular stimulus; IEA:Ensembl. # GO_process GO:0032060 bleb assembly; IDA:UniProtKB. # GO_process GO:0032308 positive regulation of prostaglandin secretion; IEA:Ensembl. # GO_process GO:0032496 response to lipopolysaccharide; IEA:Ensembl. # GO_process GO:0032755 positive regulation of interleukin-6 production; IEA:Ensembl. # GO_process GO:0032963 collagen metabolic process; IEA:Ensembl. # GO_process GO:0033198 response to ATP; IDA:BHF-UCL. # GO_process GO:0034405 response to fluid shear stress; IEA:Ensembl. # GO_process GO:0034767 positive regulation of ion transmembrane transport; IMP:UniProtKB. # GO_process GO:0035590 purinergic nucleotide receptor signaling pathway; IMP:UniProtKB. # GO_process GO:0042098 T cell proliferation; IEA:Ensembl. # GO_process GO:0042493 response to drug; IEA:Ensembl. # GO_process GO:0043029 T cell homeostasis; IEA:Ensembl. # GO_process GO:0043132 NAD transport; IEA:Ensembl. # GO_process GO:0043409 negative regulation of MAPK cascade; ISS:BHF-UCL. # GO_process GO:0044254 multicellular organismal protein catabolic process; IEA:Ensembl. # GO_process GO:0045332 phospholipid translocation; IEA:Ensembl. # GO_process GO:0045779 negative regulation of bone resorption; ISS:BHF-UCL. # GO_process GO:0045794 negative regulation of cell volume; IMP:UniProtKB. # GO_process GO:0045821 positive regulation of glycolytic process; IMP:CACAO. # GO_process GO:0045919 positive regulation of cytolysis; ISS:BHF-UCL. # GO_process GO:0046513 ceramide biosynthetic process; IEA:Ensembl. # GO_process GO:0046931 pore complex assembly; IMP:UniProtKB. # GO_process GO:0048705 skeletal system morphogenesis; IEA:Ensembl. # GO_process GO:0048873 homeostasis of number of cells within a tissue; IEA:Ensembl. # GO_process GO:0050717 positive regulation of interleukin-1 alpha secretion; IEA:Ensembl. # GO_process GO:0050718 positive regulation of interleukin-1 beta secretion; IDA:BHF-UCL. # GO_process GO:0050830 defense response to Gram-positive bacterium; IEA:Ensembl. # GO_process GO:0051209 release of sequestered calcium ion into cytosol; IEA:Ensembl. # GO_process GO:0051259 protein oligomerization; IEA:Ensembl. # GO_process GO:0051495 positive regulation of cytoskeleton organization; ISS:BHF-UCL. # GO_process GO:0051592 response to calcium ion; IEA:Ensembl. # GO_process GO:0051602 response to electrical stimulus; IEA:Ensembl. # GO_process GO:0051709 regulation of killing of cells of other organism; NAS:BHF-UCL. # GO_process GO:0051899 membrane depolarization; IDA:BHF-UCL. # GO_process GO:0051901 positive regulation of mitochondrial depolarization; IEA:Ensembl. # GO_process GO:0070230 positive regulation of lymphocyte apoptotic process; IEA:Ensembl. # GO_process GO:0071359 cellular response to dsRNA; IEA:Ensembl. # GO_process GO:0072593 reactive oxygen species metabolic process; IEA:Ensembl. # GO_process GO:0097190 apoptotic signaling pathway; ISS:BHF-UCL. # GO_process GO:0097191 extrinsic apoptotic signaling pathway; IEA:Ensembl. # GO_process GO:1904172 positive regulation of bleb assembly; IMP:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0008289 lipid binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0000902 cell morphogenesis # GOslim_process GO:0002376 immune system process # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006464 cellular protein modification process # GOslim_process GO:0006629 lipid metabolic process # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007005 mitochondrion organization # GOslim_process GO:0007009 plasma membrane organization # GOslim_process GO:0007155 cell adhesion # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0008283 cell proliferation # GOslim_process GO:0009056 catabolic process # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0016192 vesicle-mediated transport # GOslim_process GO:0022607 cellular component assembly # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0050877 neurological system process # GOslim_process GO:0051604 protein maturation # GOslim_process GO:0055085 transmembrane transport # GOslim_process GO:0061024 membrane organization # Gene3D 2.60.490.10 -; 1. # Genevisible Q99572 HS # HGNC HGNC:8537 P2RX7 # IntAct Q99572 12 # InterPro IPR001429 P2X_purnocptor # InterPro IPR003050 P2X7_purnocptor # InterPro IPR027309 P2X_extracellular_dom # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04020 Calcium signaling pathway # KEGG_Pathway ko04080 Neuroactive ligand-receptor interaction # MIM 602566 gene # Organism P2RX7_HUMAN Homo sapiens (Human) # PANTHER PTHR10125 PTHR10125; 3 # PANTHER PTHR10125:SF13 PTHR10125:SF13; 3 # PRINTS PR01307 P2XRECEPTOR # PRINTS PR01314 P2X7RECEPTOR # PROSITE PS01212 P2X_RECEPTOR # PTM P2RX7_HUMAN ADP-ribosylation at Arg-125 is necessary and sufficient to activate P2RX7 and gate the channel. {ECO 0000250}. # PTM P2RX7_HUMAN Palmitoylation of several cysteines in the C-terminal cytoplasmic tail is required for efficient localization to cell surface. {ECO 0000269|PubMed 18971257}. # PTM P2RX7_HUMAN Phosphorylation results in its inactivation. {ECO 0000269|PubMed 11707406}. # Pfam PF00864 P2X_receptor # Proteomes UP000005640 Chromosome 12 # Reactome R-HSA-139853 Elevation of cytosolic Ca2+ levels # Reactome R-HSA-418346 Platelet homeostasis # Reactome R-HSA-844456 The NLRP3 inflammasome # RecName P2RX7_HUMAN P2X purinoceptor 7 # RefSeq NP_002553 NM_002562.5. [Q99572-1] # RefSeq XP_011536722 XM_011538420.2. [Q99572-6] # SIMILARITY Belongs to the P2X receptor family. {ECO 0000305}. # SUBCELLULAR LOCATION P2RX7_HUMAN Cell membrane {ECO 0000269|PubMed 12107182}; Multi-pass membrane protein. # SUBUNIT P2RX7_HUMAN Functional P2XRs are organized as homomeric and heteromeric trimers. Interacts with LAMA3, ITGB2, ACTB, ACTN4, SVIL, MPP3, HSPA1, HSPCB, HSPA8, PIK230 and PTPRB. Interacts (via C-terminus) with EMP2 (PubMed 12107182). {ECO 0000269|PubMed 11707406, ECO 0000269|PubMed 12107182}. # TCDB 1.A.7.1 the atp-gated p2x receptor cation channel (p2x receptor) family # TIGRFAMs TIGR00863 P2X # TISSUE SPECIFICITY Widely expressed with highest levels in brain and immune tissues. {ECO:0000269|PubMed 15896293}. # UCSC uc001tzm human. [Q99572-1] # WEB RESOURCE P2RX7_HUMAN Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http //atlasgeneticsoncology.org/Genes/P2RX7ID41623ch12q24.html"; # WEB RESOURCE P2RX7_HUMAN Name=Wikipedia; Note=P2RX7 entry; URL="http //en.wikipedia.org/wiki/P2RX7"; # WEB RESOURCE P2RX7_HUMAN Name=Wikipedia; Note=P2X receptor entry; URL="https //en.wikipedia.org/wiki/P2X_receptor"; # eggNOG ENOG410IK4U Eukaryota # eggNOG ENOG4110DDY LUCA BLAST swissprot:P2RX7_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:P2RX7_HUMAN BioCyc ZFISH:ENSG00000089041-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000089041-MONOMER COXPRESdb 5027 http://coxpresdb.jp/data/gene/5027.shtml CleanEx HS_P2RX7 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_P2RX7 DOI 10.1016/j.bbrc.2005.04.087 http://dx.doi.org/10.1016/j.bbrc.2005.04.087 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/bi902083n http://dx.doi.org/10.1021/bi902083n DOI 10.1038/nature04569 http://dx.doi.org/10.1038/nature04569 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.272.9.5482 http://dx.doi.org/10.1074/jbc.272.9.5482 DOI 10.1074/jbc.M010353200 http://dx.doi.org/10.1074/jbc.M010353200 DOI 10.1074/jbc.M205120200 http://dx.doi.org/10.1074/jbc.M205120200 DOI 10.1074/jbc.M212759200 http://dx.doi.org/10.1074/jbc.M212759200 DOI 10.1074/jbc.M313902200 http://dx.doi.org/10.1074/jbc.M313902200 DOI 10.1093/emboj/20.22.6347 http://dx.doi.org/10.1093/emboj/20.22.6347 DOI 10.1096/fj.08-114637 http://dx.doi.org/10.1096/fj.08-114637 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1133427 http://dx.doi.org/10.1126/science.1133427 EMBL AC069209 http://www.ebi.ac.uk/ena/data/view/AC069209 EMBL AC079602 http://www.ebi.ac.uk/ena/data/view/AC079602 EMBL AK290405 http://www.ebi.ac.uk/ena/data/view/AK290405 EMBL AK294126 http://www.ebi.ac.uk/ena/data/view/AK294126 EMBL AY847298 http://www.ebi.ac.uk/ena/data/view/AY847298 EMBL AY847299 http://www.ebi.ac.uk/ena/data/view/AY847299 EMBL AY847300 http://www.ebi.ac.uk/ena/data/view/AY847300 EMBL AY847301 http://www.ebi.ac.uk/ena/data/view/AY847301 EMBL AY847302 http://www.ebi.ac.uk/ena/data/view/AY847302 EMBL AY847303 http://www.ebi.ac.uk/ena/data/view/AY847303 EMBL AY847304 http://www.ebi.ac.uk/ena/data/view/AY847304 EMBL BC007679 http://www.ebi.ac.uk/ena/data/view/BC007679 EMBL BC011913 http://www.ebi.ac.uk/ena/data/view/BC011913 EMBL Y09561 http://www.ebi.ac.uk/ena/data/view/Y09561 EMBL Y12851 http://www.ebi.ac.uk/ena/data/view/Y12851 EMBL Y12852 http://www.ebi.ac.uk/ena/data/view/Y12852 EMBL Y12853 http://www.ebi.ac.uk/ena/data/view/Y12853 EMBL Y12854 http://www.ebi.ac.uk/ena/data/view/Y12854 EMBL Y12855 http://www.ebi.ac.uk/ena/data/view/Y12855 EMBL Z98941 http://www.ebi.ac.uk/ena/data/view/Z98941 Ensembl ENST00000328963 http://www.ensembl.org/id/ENST00000328963 Ensembl ENST00000535250 http://www.ensembl.org/id/ENST00000535250 Ensembl ENST00000535600 http://www.ensembl.org/id/ENST00000535600 Ensembl ENST00000541022 http://www.ensembl.org/id/ENST00000541022 Ensembl ENST00000541716 http://www.ensembl.org/id/ENST00000541716 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005639 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005639 GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0005911 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005911 GO_component GO:0009897 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009897 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0031594 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031594 GO_component GO:0032059 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032059 GO_component GO:0043025 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043025 GO_component GO:0098793 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0098793 GO_function GO:0001530 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001530 GO_function GO:0001614 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001614 GO_function GO:0004931 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004931 GO_function GO:0005102 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005102 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0042803 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042803 GO_process GO:0000187 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000187 GO_process GO:0000902 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000902 GO_process GO:0001845 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001845 GO_process GO:0001916 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001916 GO_process GO:0002028 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002028 GO_process GO:0006468 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006468 GO_process GO:0006509 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006509 GO_process GO:0006649 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006649 GO_process GO:0006900 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006900 GO_process GO:0006954 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006954 GO_process GO:0007005 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007005 GO_process GO:0007166 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007166 GO_process GO:0007596 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007596 GO_process GO:0009612 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009612 GO_process GO:0010043 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010043 GO_process GO:0010524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010524 GO_process GO:0010628 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010628 GO_process GO:0014049 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014049 GO_process GO:0014054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014054 GO_process GO:0016079 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016079 GO_process GO:0016485 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016485 GO_process GO:0017121 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0017121 GO_process GO:0019233 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019233 GO_process GO:0019835 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019835 GO_process GO:0030501 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030501 GO_process GO:0031668 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031668 GO_process GO:0032060 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032060 GO_process GO:0032308 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032308 GO_process GO:0032496 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032496 GO_process GO:0032755 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032755 GO_process GO:0032963 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032963 GO_process GO:0033198 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033198 GO_process GO:0034405 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034405 GO_process GO:0034767 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034767 GO_process GO:0035590 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035590 GO_process GO:0042098 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042098 GO_process GO:0042493 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042493 GO_process GO:0043029 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043029 GO_process GO:0043132 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043132 GO_process GO:0043409 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043409 GO_process GO:0044254 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044254 GO_process GO:0045332 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045332 GO_process GO:0045779 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045779 GO_process GO:0045794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045794 GO_process GO:0045821 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045821 GO_process GO:0045919 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045919 GO_process GO:0046513 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046513 GO_process GO:0046931 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046931 GO_process GO:0048705 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048705 GO_process GO:0048873 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048873 GO_process GO:0050717 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050717 GO_process GO:0050718 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050718 GO_process GO:0050830 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050830 GO_process GO:0051209 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051209 GO_process GO:0051259 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051259 GO_process GO:0051495 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051495 GO_process GO:0051592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051592 GO_process GO:0051602 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051602 GO_process GO:0051709 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051709 GO_process GO:0051899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051899 GO_process GO:0051901 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051901 GO_process GO:0070230 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070230 GO_process GO:0071359 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071359 GO_process GO:0072593 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0072593 GO_process GO:0097190 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097190 GO_process GO:0097191 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097191 GO_process GO:1904172 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1904172 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0008289 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008289 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0000902 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000902 GOslim_process GO:0002376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002376 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006464 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006464 GOslim_process GO:0006629 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006629 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007005 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007005 GOslim_process GO:0007009 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007009 GOslim_process GO:0007155 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007155 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0008283 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008283 GOslim_process GO:0009056 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009056 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0016192 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016192 GOslim_process GO:0022607 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022607 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GOslim_process GO:0051604 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051604 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GOslim_process GO:0061024 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061024 Gene3D 2.60.490.10 http://www.cathdb.info/version/latest/superfamily/2.60.490.10 GeneCards P2RX7 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=P2RX7 GeneID 5027 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=5027 GeneTree ENSGT00390000016028 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000016028 HGNC HGNC:8537 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:8537 HOGENOM HOG000232042 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000232042&db=HOGENOM6 HOVERGEN HBG053086 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG053086&db=HOVERGEN HPA HPA034968 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA034968 HPA HPA042013 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA042013 HPA HPA044141 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA044141 InParanoid Q99572 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q99572 IntAct Q99572 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q99572* InterPro IPR001429 http://www.ebi.ac.uk/interpro/entry/IPR001429 InterPro IPR003050 http://www.ebi.ac.uk/interpro/entry/IPR003050 InterPro IPR027309 http://www.ebi.ac.uk/interpro/entry/IPR027309 Jabion 5027 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=5027 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:5027 http://www.genome.jp/dbget-bin/www_bget?hsa:5027 KEGG_Orthology KO:K05220 http://www.genome.jp/dbget-bin/www_bget?KO:K05220 KEGG_Pathway ko04020 http://www.genome.jp/kegg-bin/show_pathway?ko04020 KEGG_Pathway ko04080 http://www.genome.jp/kegg-bin/show_pathway?ko04080 MIM 602566 http://www.ncbi.nlm.nih.gov/omim/602566 MINT MINT-3972963 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-3972963 OMA LCPEYPT http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=LCPEYPT OrthoDB EOG091G0A2U http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0A2U PANTHER PTHR10125 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10125 PANTHER PTHR10125:SF13 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10125:SF13 PRINTS PR01307 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01307 PRINTS PR01314 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01314 PROSITE PS01212 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS01212 PSORT swissprot:P2RX7_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:P2RX7_HUMAN PSORT-B swissprot:P2RX7_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:P2RX7_HUMAN PSORT2 swissprot:P2RX7_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:P2RX7_HUMAN Pfam PF00864 http://pfam.xfam.org/family/PF00864 PharmGKB PA32866 http://www.pharmgkb.org/do/serve?objId=PA32866&objCls=Gene Phobius swissprot:P2RX7_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:P2RX7_HUMAN ProteinModelPortal Q99572 http://www.proteinmodelportal.org/query/uniprot/Q99572 PubMed 11150303 http://www.ncbi.nlm.nih.gov/pubmed/11150303 PubMed 11707406 http://www.ncbi.nlm.nih.gov/pubmed/11707406 PubMed 12107182 http://www.ncbi.nlm.nih.gov/pubmed/12107182 PubMed 12586825 http://www.ncbi.nlm.nih.gov/pubmed/12586825 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15123679 http://www.ncbi.nlm.nih.gov/pubmed/15123679 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15896293 http://www.ncbi.nlm.nih.gov/pubmed/15896293 PubMed 16541075 http://www.ncbi.nlm.nih.gov/pubmed/16541075 PubMed 16959974 http://www.ncbi.nlm.nih.gov/pubmed/16959974 PubMed 18971257 http://www.ncbi.nlm.nih.gov/pubmed/18971257 PubMed 20450227 http://www.ncbi.nlm.nih.gov/pubmed/20450227 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 9038151 http://www.ncbi.nlm.nih.gov/pubmed/9038151 PubMed 9826911 http://www.ncbi.nlm.nih.gov/pubmed/9826911 Reactome R-HSA-139853 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-139853 Reactome R-HSA-418346 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-418346 Reactome R-HSA-844456 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-844456 RefSeq NP_002553 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_002553 RefSeq XP_011536722 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011536722 SMR Q99572 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q99572 STRING 9606.ENSP00000442349 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000442349&targetmode=cogs TCDB 1.A.7.1 http://www.tcdb.org/search/result.php?tc=1.A.7.1 TIGRFAMs TIGR00863 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00863 UCSC uc001tzm http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001tzm&org=rat UniGene Hs.729169 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.729169 UniProtKB P2RX7_HUMAN http://www.uniprot.org/uniprot/P2RX7_HUMAN UniProtKB-AC Q99572 http://www.uniprot.org/uniprot/Q99572 charge swissprot:P2RX7_HUMAN http://rest.g-language.org/emboss/charge/swissprot:P2RX7_HUMAN eggNOG ENOG410IK4U http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IK4U eggNOG ENOG4110DDY http://eggnogapi.embl.de/nog_data/html/tree/ENOG4110DDY epestfind swissprot:P2RX7_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:P2RX7_HUMAN garnier swissprot:P2RX7_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:P2RX7_HUMAN helixturnhelix swissprot:P2RX7_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:P2RX7_HUMAN hmoment swissprot:P2RX7_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:P2RX7_HUMAN iep swissprot:P2RX7_HUMAN http://rest.g-language.org/emboss/iep/swissprot:P2RX7_HUMAN inforesidue swissprot:P2RX7_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:P2RX7_HUMAN neXtProt NX_Q99572 http://www.nextprot.org/db/entry/NX_Q99572 octanol swissprot:P2RX7_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:P2RX7_HUMAN pepcoil swissprot:P2RX7_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:P2RX7_HUMAN pepdigest swissprot:P2RX7_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:P2RX7_HUMAN pepinfo swissprot:P2RX7_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:P2RX7_HUMAN pepnet swissprot:P2RX7_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:P2RX7_HUMAN pepstats swissprot:P2RX7_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:P2RX7_HUMAN pepwheel swissprot:P2RX7_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:P2RX7_HUMAN pepwindow swissprot:P2RX7_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:P2RX7_HUMAN sigcleave swissprot:P2RX7_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:P2RX7_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS MRS2_HUMAN Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q9HD23-1; Sequence=Displayed; Name=2; IsoId=Q9HD23-2; Sequence=VSP_016209, VSP_016210; Name=3; IsoId=Q9HD23-3; Sequence=VSP_016207, VSP_016208; Note=No experimental confirmation available.; Name=4; IsoId=Q9HD23-4; Sequence=VSP_055287; Note=No experimental confirmation available.; # AltName MRS2_HUMAN MRS2-like protein # BioGrid 121498 33 # CCDS CCDS4552 -. [Q9HD23-1] # CCDS CCDS69055 -. [Q9HD23-4] # CCDS CCDS75408 -. [Q9HD23-2] # ChiTaRS MRS2 human # Ensembl ENST00000378353 ENSP00000367604; ENSG00000124532. [Q9HD23-2] # Ensembl ENST00000378386 ENSP00000367637; ENSG00000124532. [Q9HD23-1] # Ensembl ENST00000443868 ENSP00000399585; ENSG00000124532. [Q9HD23-4] # ExpressionAtlas Q9HD23 baseline and differential # FUNCTION MRS2_HUMAN Magnesium transporter that mediates the influx of magnesium into the mitochondrial matrix (PubMed 11401429, PubMed 18384665). Required for normal expression of the mitochondrial respiratory complex I subunits (PubMed 18384665). {ECO 0000269|PubMed 11401429, ECO 0000269|PubMed 18384665}. # GO_component GO:0005739 mitochondrion; IDA:UniProtKB. # GO_component GO:0005743 mitochondrial inner membrane; IBA:GO_Central. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0015095 magnesium ion transmembrane transporter activity; IMP:UniProtKB. # GO_process GO:0045016 mitochondrial magnesium ion transport; IBA:GO_Central. # GO_process GO:0055085 transmembrane transport; TAS:Reactome. # GO_process GO:1990614 mitochondrial magnesium ion transmembrane transport; IMP:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005739 mitochondrion # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0055085 transmembrane transport # Genevisible Q9HD23 HS # HGNC HGNC:13785 MRS2 # IntAct Q9HD23 3 # KEGG_Brite ko02000 Transporters # MISCELLANEOUS MRS2_HUMAN Has the ability to complement a deletion of MRS2 in S.cerevisiae and partly restore mitochondrial magnesium concentrations. # Organism MRS2_HUMAN Homo sapiens (Human) # Proteomes UP000005640 Chromosome 6 # Reactome R-HSA-5223345 Miscellaneous transport and binding events # RecName MRS2_HUMAN Magnesium transporter MRS2 homolog, mitochondrial # RefSeq NP_001273193 NM_001286264.1. [Q9HD23-4] # RefSeq NP_001273194 NM_001286265.1. [Q9HD23-2] # RefSeq NP_001273195 NM_001286266.1 # RefSeq NP_065713 NM_020662.3. [Q9HD23-1] # SEQUENCE CAUTION Sequence=CAI17109.1; Type=Erroneous gene model prediction; Evidence={ECO 0000305}; # SIMILARITY Belongs to the CorA metal ion transporter (MIT) (TC 1.A.35) family. {ECO 0000305}. # SUBCELLULAR LOCATION MRS2_HUMAN Mitochondrion inner membrane {ECO 0000269|PubMed 11401429, ECO 0000305|PubMed 18384665}; Multi- pass membrane protein {ECO 0000305}. # UCSC uc003nea human. [Q9HD23-1] # eggNOG ENOG410XNNZ LUCA # eggNOG KOG2662 Eukaryota BLAST swissprot:MRS2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:MRS2_HUMAN BioCyc ZFISH:ENSG00000124532-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000124532-MONOMER COXPRESdb 57380 http://coxpresdb.jp/data/gene/57380.shtml CleanEx HS_MRS2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_MRS2 DOI 10.1006/geno.2000.6407 http://dx.doi.org/10.1006/geno.2000.6407 DOI 10.1038/nature02055 http://dx.doi.org/10.1038/nature02055 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1582-4934.2008.00328.x http://dx.doi.org/10.1111/j.1582-4934.2008.00328.x DOI 10.1126/science.1175371 http://dx.doi.org/10.1126/science.1175371 EMBL AF288288 http://www.ebi.ac.uk/ena/data/view/AF288288 EMBL AF293076 http://www.ebi.ac.uk/ena/data/view/AF293076 EMBL AF293078 http://www.ebi.ac.uk/ena/data/view/AF293078 EMBL AK054587 http://www.ebi.ac.uk/ena/data/view/AK054587 EMBL AK291058 http://www.ebi.ac.uk/ena/data/view/AK291058 EMBL AK298849 http://www.ebi.ac.uk/ena/data/view/AK298849 EMBL AL359713 http://www.ebi.ac.uk/ena/data/view/AL359713 EMBL AL359713 http://www.ebi.ac.uk/ena/data/view/AL359713 EMBL AL359713 http://www.ebi.ac.uk/ena/data/view/AL359713 EMBL BC001028 http://www.ebi.ac.uk/ena/data/view/BC001028 EMBL BC069009 http://www.ebi.ac.uk/ena/data/view/BC069009 EMBL CH471087 http://www.ebi.ac.uk/ena/data/view/CH471087 EMBL CH471087 http://www.ebi.ac.uk/ena/data/view/CH471087 Ensembl ENST00000378353 http://www.ensembl.org/id/ENST00000378353 Ensembl ENST00000378386 http://www.ensembl.org/id/ENST00000378386 Ensembl ENST00000443868 http://www.ensembl.org/id/ENST00000443868 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0015095 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015095 GO_process GO:0045016 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045016 GO_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GO_process GO:1990614 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1990614 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards MRS2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=MRS2 GeneID 57380 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=57380 GeneTree ENSGT00390000009988 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000009988 HGNC HGNC:13785 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:13785 HOGENOM HOG000013083 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000013083&db=HOGENOM6 HOVERGEN HBG103267 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG103267&db=HOVERGEN HPA HPA017642 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA017642 InParanoid Q9HD23 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9HD23 IntAct Q9HD23 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9HD23* Jabion 57380 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=57380 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Gene hsa:57380 http://www.genome.jp/dbget-bin/www_bget?hsa:57380 KEGG_Orthology KO:K16075 http://www.genome.jp/dbget-bin/www_bget?KO:K16075 OMA TYPLPFE http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=TYPLPFE OrthoDB EOG091G094B http://cegg.unige.ch/orthodb/results?searchtext=EOG091G094B PSORT swissprot:MRS2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:MRS2_HUMAN PSORT-B swissprot:MRS2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:MRS2_HUMAN PSORT2 swissprot:MRS2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:MRS2_HUMAN PharmGKB PA162396189 http://www.pharmgkb.org/do/serve?objId=PA162396189&objCls=Gene Phobius swissprot:MRS2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:MRS2_HUMAN PhylomeDB Q9HD23 http://phylomedb.org/?seqid=Q9HD23 ProteinModelPortal Q9HD23 http://www.proteinmodelportal.org/query/uniprot/Q9HD23 PubMed 11401429 http://www.ncbi.nlm.nih.gov/pubmed/11401429 PubMed 14574404 http://www.ncbi.nlm.nih.gov/pubmed/14574404 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 18384665 http://www.ncbi.nlm.nih.gov/pubmed/18384665 PubMed 19608861 http://www.ncbi.nlm.nih.gov/pubmed/19608861 Reactome R-HSA-5223345 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5223345 RefSeq NP_001273193 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001273193 RefSeq NP_001273194 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001273194 RefSeq NP_001273195 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001273195 RefSeq NP_065713 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_065713 SMR Q9HD23 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9HD23 STRING 9606.ENSP00000367637 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000367637&targetmode=cogs UCSC uc003nea http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003nea&org=rat UniGene Hs.658612 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.658612 UniGene Hs.732395 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.732395 UniProtKB MRS2_HUMAN http://www.uniprot.org/uniprot/MRS2_HUMAN UniProtKB-AC Q9HD23 http://www.uniprot.org/uniprot/Q9HD23 charge swissprot:MRS2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:MRS2_HUMAN eggNOG ENOG410XNNZ http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XNNZ eggNOG KOG2662 http://eggnogapi.embl.de/nog_data/html/tree/KOG2662 epestfind swissprot:MRS2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:MRS2_HUMAN garnier swissprot:MRS2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:MRS2_HUMAN helixturnhelix swissprot:MRS2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:MRS2_HUMAN hmoment swissprot:MRS2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:MRS2_HUMAN iep swissprot:MRS2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:MRS2_HUMAN inforesidue swissprot:MRS2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:MRS2_HUMAN neXtProt NX_Q9HD23 http://www.nextprot.org/db/entry/NX_Q9HD23 octanol swissprot:MRS2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:MRS2_HUMAN pepcoil swissprot:MRS2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:MRS2_HUMAN pepdigest swissprot:MRS2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:MRS2_HUMAN pepinfo swissprot:MRS2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:MRS2_HUMAN pepnet swissprot:MRS2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:MRS2_HUMAN pepstats swissprot:MRS2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:MRS2_HUMAN pepwheel swissprot:MRS2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:MRS2_HUMAN pepwindow swissprot:MRS2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:MRS2_HUMAN sigcleave swissprot:MRS2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:MRS2_HUMAN ## Database ID URL or Descriptions # AltName SOAT_HUMAN Sodium-dependent organic anion transporter # Ensembl ENST00000273905 ENSP00000273905; ENSG00000145283 # FUNCTION SOAT_HUMAN Transports sulfoconjugated steroid hormones, as well as taurolithocholic acid-3-sulfate and sulfoconjugated pyrenes in a sodium-dependent manner. {ECO 0000269|PubMed 17491011}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_function GO:0043250 sodium-dependent organic anion transmembrane transporter activity; IEA:Ensembl. # GO_function SOAT_HUMAN GO 0008508 bile acid sodium symporter activity; IBA GO_Central. # GO_process GO:0043251 sodium-dependent organic anion transport; IEA:Ensembl. # GO_process GO:0055085 transmembrane transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0055085 transmembrane transport # HGNC HGNC:30603 SLC10A6 # InterPro IPR002657:BilAc Na_symport/Acr3 # InterPro IPR004710:Bilac Na_transpt # InterPro IPR030203 SLC10A6 # KEGG_Brite ko02001 Solute carrier family # MIM 613366 gene # Organism SOAT_HUMAN Homo sapiens (Human) # PANTHER PTHR10361 PTHR10361 # PANTHER PTHR10361:SF4 PTHR10361:SF4 # PTM SOAT_HUMAN Glycosylated. {ECO 0000269|PubMed 17491011}. # Pfam PF01758 SBF # Proteomes UP000005640 Chromosome 4 # Reactome R-HSA-425366 Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds # RecName SOAT_HUMAN Solute carrier family 10 member 6 # RefSeq NP_932069 NM_197965.2 # SIMILARITY Belongs to the bile acid:sodium symporter (BASS) (TC 2.A.28) family. {ECO 0000305}. # SUBCELLULAR LOCATION SOAT_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # TCDB 2.A.28.1:the bile acid na(+) symporter (bass) family # TIGRFAMs TIGR00841 bass # TISSUE SPECIFICITY Highly expressed in testis, placenta and pancreas. Moderately expressed in heart, lung and mammary gland. Weakly expressed in brain, colon, kidney, liver, ovary, prostate, small intestine, spleen and thymus. {ECO:0000269|PubMed 17491011}. # UCSC uc003hqd human # eggNOG COG0385 LUCA # eggNOG KOG2718 Eukaryota BLAST swissprot:SOAT_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SOAT_HUMAN COXPRESdb 345274 http://coxpresdb.jp/data/gene/345274.shtml CleanEx HS_SLC10A6 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC10A6 DOI 10.1074/jbc.M702663200 http://dx.doi.org/10.1074/jbc.M702663200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AJ583502 http://www.ebi.ac.uk/ena/data/view/AJ583502 EMBL BC107051 http://www.ebi.ac.uk/ena/data/view/BC107051 EMBL BC107052 http://www.ebi.ac.uk/ena/data/view/BC107052 EMBL CH471057 http://www.ebi.ac.uk/ena/data/view/CH471057 EMBL EF437223 http://www.ebi.ac.uk/ena/data/view/EF437223 Ensembl ENST00000273905 http://www.ensembl.org/id/ENST00000273905 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0008508 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008508 GO_function GO:0043250 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043250 GO_process GO:0043251 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043251 GO_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC10A6 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC10A6 GeneID 345274 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=345274 GeneTree ENSGT00550000074505 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074505 HGNC HGNC:30603 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:30603 HOGENOM HOG000234524 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000234524&db=HOGENOM6 HOVERGEN HBG006537 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG006537&db=HOVERGEN HPA HPA016662 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA016662 InParanoid Q3KNW5 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q3KNW5 InterPro IPR002657 http://www.ebi.ac.uk/interpro/entry/IPR002657 InterPro IPR004710 http://www.ebi.ac.uk/interpro/entry/IPR004710 InterPro IPR030203 http://www.ebi.ac.uk/interpro/entry/IPR030203 Jabion 345274 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=345274 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:345274 http://www.genome.jp/dbget-bin/www_bget?hsa:345274 KEGG_Orthology KO:K14346 http://www.genome.jp/dbget-bin/www_bget?KO:K14346 MIM 613366 http://www.ncbi.nlm.nih.gov/omim/613366 OMA CLTIPVA http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=CLTIPVA OrthoDB EOG091G0GT5 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0GT5 PANTHER PTHR10361 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10361 PANTHER PTHR10361:SF4 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10361:SF4 PSORT swissprot:SOAT_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SOAT_HUMAN PSORT-B swissprot:SOAT_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SOAT_HUMAN PSORT2 swissprot:SOAT_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SOAT_HUMAN Pfam PF01758 http://pfam.xfam.org/family/PF01758 PharmGKB PA142670910 http://www.pharmgkb.org/do/serve?objId=PA142670910&objCls=Gene Phobius swissprot:SOAT_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SOAT_HUMAN PhylomeDB Q3KNW5 http://phylomedb.org/?seqid=Q3KNW5 ProteinModelPortal Q3KNW5 http://www.proteinmodelportal.org/query/uniprot/Q3KNW5 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 17491011 http://www.ncbi.nlm.nih.gov/pubmed/17491011 Reactome R-HSA-425366 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-425366 RefSeq NP_932069 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_932069 STRING 9606.ENSP00000273905 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000273905&targetmode=cogs TCDB 2.A.28.1 http://www.tcdb.org/search/result.php?tc=2.A.28.1 TIGRFAMs TIGR00841 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00841 UCSC uc003hqd http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003hqd&org=rat UniGene Hs.452996 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.452996 UniProtKB SOAT_HUMAN http://www.uniprot.org/uniprot/SOAT_HUMAN UniProtKB-AC Q3KNW5 http://www.uniprot.org/uniprot/Q3KNW5 charge swissprot:SOAT_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SOAT_HUMAN eggNOG COG0385 http://eggnogapi.embl.de/nog_data/html/tree/COG0385 eggNOG KOG2718 http://eggnogapi.embl.de/nog_data/html/tree/KOG2718 epestfind swissprot:SOAT_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SOAT_HUMAN garnier swissprot:SOAT_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SOAT_HUMAN helixturnhelix swissprot:SOAT_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SOAT_HUMAN hmoment swissprot:SOAT_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SOAT_HUMAN iep swissprot:SOAT_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SOAT_HUMAN inforesidue swissprot:SOAT_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SOAT_HUMAN neXtProt NX_Q3KNW5 http://www.nextprot.org/db/entry/NX_Q3KNW5 octanol swissprot:SOAT_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SOAT_HUMAN pepcoil swissprot:SOAT_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SOAT_HUMAN pepdigest swissprot:SOAT_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SOAT_HUMAN pepinfo swissprot:SOAT_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SOAT_HUMAN pepnet swissprot:SOAT_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SOAT_HUMAN pepstats swissprot:SOAT_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SOAT_HUMAN pepwheel swissprot:SOAT_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SOAT_HUMAN pepwindow swissprot:SOAT_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SOAT_HUMAN sigcleave swissprot:SOAT_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SOAT_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS GRIA1_HUMAN Event=Alternative splicing; Named isoforms=6; Name=Flop; IsoId=P42261-1; Sequence=Displayed; Name=Flip; IsoId=P42261-2; Sequence=VSP_053349; Name=3; IsoId=P42261-3; Sequence=VSP_045120; Name=4; IsoId=P42261-4; Sequence=VSP_045119; Name=5; IsoId=P42261-5; Sequence=VSP_047024; Note=No experimental confirmation available.; Name=6; IsoId=P42261-6; Sequence=VSP_047024, VSP_053349; Note=No experimental confirmation available.; # AltName GRIA1_HUMAN AMPA-selective glutamate receptor 1 # AltName GRIA1_HUMAN GluR-A # AltName GRIA1_HUMAN GluR-K1 # AltName GRIA1_HUMAN Glutamate receptor ionotropic, AMPA 1 # BioGrid 109147 18 # CCDS CCDS4322 -. [P42261-1] # CCDS CCDS47318 -. [P42261-2] # CCDS CCDS58986 -. [P42261-3] # CCDS CCDS58987 -. [P42261-5] # CCDS CCDS58988 -. [P42261-6] # CCDS CCDS58989 -. [P42261-4] # ChiTaRS GRIA1 human # DOMAIN GRIA1_HUMAN The M4 transmembrane segment mediates tetramerization and is required for cell surface expression. # DrugBank DB00228 Enflurane # DrugBank DB00753 Isoflurane # DrugBank DB00898 Ethanol # DrugBank DB01028 Methoxyflurane # DrugBank DB01189 Desflurane # DrugBank DB01236 Sevoflurane # DrugBank DB08883 Perampanel # Ensembl ENST00000285900 ENSP00000285900; ENSG00000155511. [P42261-1] # Ensembl ENST00000340592 ENSP00000339343; ENSG00000155511. [P42261-2] # Ensembl ENST00000448073 ENSP00000415569; ENSG00000155511. [P42261-6] # Ensembl ENST00000518142 ENSP00000427920; ENSG00000155511. [P42261-3] # Ensembl ENST00000518783 ENSP00000428994; ENSG00000155511. [P42261-5] # Ensembl ENST00000521843 ENSP00000427864; ENSG00000155511. [P42261-4] # FUNCTION GRIA1_HUMAN Ionotropic glutamate receptor. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. Binding of the excitatory neurotransmitter L- glutamate induces a conformation change, leading to the opening of the cation channel, and thereby converts the chemical signal to an electrical impulse. The receptor then desensitizes rapidly and enters a transient inactive state, characterized by the presence of bound agonist. In the presence of CACNG4 or CACNG7 or CACNG8, shows resensitization which is characterized by a delayed accumulation of current flux upon continued application of glutamate. {ECO 0000269|PubMed 20805473, ECO 0000269|PubMed 21172611}. # GO_component GO:0000139 Golgi membrane; IEA:GOC. # GO_component GO:0005789 endoplasmic reticulum membrane; TAS:Reactome. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0008021 synaptic vesicle; IEA:Ensembl. # GO_component GO:0009986 cell surface; ISS:BHF-UCL. # GO_component GO:0012507 ER to Golgi transport vesicle membrane; TAS:Reactome. # GO_component GO:0014069 postsynaptic density; ISS:UniProtKB. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0030425 dendrite; ISS:UniProtKB. # GO_component GO:0030666 endocytic vesicle membrane; TAS:Reactome. # GO_component GO:0032281 AMPA glutamate receptor complex; ISS:UniProtKB. # GO_component GO:0032591 dendritic spine membrane; IDA:UniProtKB. # GO_component GO:0033116 endoplasmic reticulum-Golgi intermediate compartment membrane; TAS:Reactome. # GO_component GO:0043025 neuronal cell body; ISS:BHF-UCL. # GO_component GO:0043197 dendritic spine; ISS:UniProtKB. # GO_component GO:0044308 axonal spine; IEA:Ensembl. # GO_component GO:0044309 neuron spine; ISS:BHF-UCL. # GO_component GO:0045211 postsynaptic membrane; IEA:UniProtKB-SubCell. # GO_component GO:0055037 recycling endosome; IDA:UniProtKB. # GO_function GO:0004971 AMPA glutamate receptor activity; IDA:UniProtKB. # GO_function GO:0005231 excitatory extracellular ligand-gated ion channel activity; TAS:Reactome. # GO_function GO:0005234 extracellular-glutamate-gated ion channel activity; IEA:InterPro. # GO_function GO:0008066 glutamate receptor activity; TAS:ProtInc. # GO_function GO:0030165 PDZ domain binding; ISS:BHF-UCL. # GO_process GO:0006888 ER to Golgi vesicle-mediated transport; TAS:Reactome. # GO_process GO:0007165 signal transduction; TAS:ProtInc. # GO_process GO:0007268 chemical synaptic transmission; TAS:Reactome. # GO_process GO:0007616 long-term memory; IEA:Ensembl. # GO_process GO:0031623 receptor internalization; IEA:Ensembl. # GO_process GO:0048208 COPII vesicle coating; TAS:Reactome. # GO_process GO:0060292 long term synaptic depression; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005768 endosome # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0031410 cytoplasmic vesicle # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # GOslim_process GO:0016192 vesicle-mediated transport # GOslim_process GO:0050877 neurological system process # Genevisible P42261 HS # HGNC HGNC:4571 GRIA1 # InterPro IPR001320 Iontro_rcpt # InterPro IPR001508 Iono_rcpt_met # InterPro IPR001828 ANF_lig-bd_rcpt # InterPro IPR019594 Glu/Gly-bd # InterPro IPR028082 Peripla_BP_I # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04080 Neuroactive ligand-receptor interaction # KEGG_Pathway ko04713 Circadian entrainment # KEGG_Pathway ko04720 Long-term potentiation # KEGG_Pathway ko04723 Retrograde endocannabinoid signaling # KEGG_Pathway ko04724 Glutamatergic synapse # KEGG_Pathway ko04728 Dopaminergic synapse # KEGG_Pathway ko04730 Long-term depression # KEGG_Pathway ko05014 Amyotrophic lateral sclerosis (ALS) # KEGG_Pathway ko05031 Amphetamine addiction # KEGG_Pathway ko05033 Nicotine addiction # MIM 138248 gene # MISCELLANEOUS GRIA1_HUMAN The postsynaptic actions of Glu are mediated by a variety of receptors that are named according to their selective agonists. This receptor binds AMPA (quisqualate) > glutamate > kainate. # Organism GRIA1_HUMAN Homo sapiens (Human) # PIR A40222 A40222 # PIR A41273 A41273 # PIR S25852 S25852 # PIR S38723 S38723 # PRINTS PR00177 NMDARECEPTOR # PTM GRIA1_HUMAN Palmitoylated. Depalmitoylated upon glutamate stimulation. Cys-603 palmitoylation leads to Golgi retention and decreased cell surface expression. In contrast, Cys-829 palmitoylation does not affect cell surface expression but regulates stimulation-dependent endocytosis (By similarity). {ECO 0000250}. # Pfam PF00060 Lig_chan # Pfam PF01094 ANF_receptor # Pfam PF10613 Lig_chan-Glu_bd # Proteomes UP000005640 Chromosome 5 # Reactome R-HSA-204005 COPII (Coat Protein 2) Mediated Vesicle Transport # Reactome R-HSA-399710 Activation of AMPA receptors # Reactome R-HSA-399719 Trafficking of AMPA receptors # Reactome R-HSA-416993 Trafficking of GluR2-containing AMPA receptors # Reactome R-HSA-438066 Unblocking of NMDA receptor, glutamate binding and activation # Reactome R-HSA-5694530 Cargo concentration in the ER # Reactome R-HSA-8849932 SALM protein interactions at the synapses # RecName GRIA1_HUMAN Glutamate receptor 1 # RefSeq NP_000818 NM_000827.3. [P42261-1] # RefSeq NP_001107655 NM_001114183.1. [P42261-2] # RefSeq NP_001244948 NM_001258019.1. [P42261-3] # RefSeq NP_001244950 NM_001258021.1. [P42261-5] # RefSeq NP_001244951 NM_001258022.1. [P42261-6] # RefSeq NP_001244952 NM_001258023.1. [P42261-4] # SIMILARITY Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. GRIA1 subfamily. {ECO 0000305}. # SMART SM00079 PBPe # SMART SM00918 Lig_chan-Glu_bd # SUBCELLULAR LOCATION GRIA1_HUMAN Cell membrane {ECO 0000269|PubMed 23739980}; Multi-pass membrane protein {ECO 0000269|PubMed 23739980}. Endoplasmic reticulum membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. Cell junction, synapse, postsynaptic cell membrane {ECO 0000269|PubMed 23739980}; Multi-pass membrane protein {ECO 0000269|PubMed 23739980}. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO 0000250}. Cell projection, dendrite {ECO 0000250}. Cell projection, dendritic spine {ECO 0000250}. Note=Interaction with CACNG2, CNIH2 and CNIH3 promotes cell surface expression. {ECO 0000250}. # SUBUNIT GRIA1_HUMAN Homotetramer or heterotetramer of pore-forming glutamate receptor subunits. Tetramers may be formed by the dimerization of dimers. Interacts with DLG1 via its C-terminus. Found in a complex with GRIA2, GRIA3, GRIA4, CNIH2, CNIH3, CACNG2, CACNG3, CACNG4, CACNG5, CACNG7 and CACNG8. Interacts with HIP1, RASGRF2, SYNDIG1 and LRFN1. Interacts with SNX27 (via PDZ domain); the interaction is required for recycling to the plasma membrane when endocytosed and prevent degradation in lysosomes. Interacts (via PDZ-binding motif) with SHANK3 (via PDZ domain). {ECO 0000269|PubMed 20805473, ECO 0000269|PubMed 23739980}. # SUPFAM SSF53822 SSF53822 # TISSUE SPECIFICITY GRIA1_HUMAN Widely expressed in brain. # UCSC uc003luy human. [P42261-1] # eggNOG ENOG410XPSH LUCA # eggNOG KOG1054 Eukaryota BLAST swissprot:GRIA1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:GRIA1_HUMAN BioCyc ZFISH:ENSG00000155511-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000155511-MONOMER COXPRESdb 2890 http://coxpresdb.jp/data/gene/2890.shtml CleanEx HS_GRIA1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_GRIA1 DIP DIP-41487N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-41487N DOI 10.1016/j.neuron.2010.11.026 http://dx.doi.org/10.1016/j.neuron.2010.11.026 DOI 10.1038/nature02919 http://dx.doi.org/10.1038/nature02919 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.1011706107 http://dx.doi.org/10.1073/pnas.1011706107 DOI 10.1073/pnas.88.17.7557 http://dx.doi.org/10.1073/pnas.88.17.7557 DOI 10.1073/pnas.89.4.1443 http://dx.doi.org/10.1073/pnas.89.4.1443 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1523/JNEUROSCI.2626-12.2013 http://dx.doi.org/10.1523/JNEUROSCI.2626-12.2013 DrugBank DB00228 http://www.drugbank.ca/drugs/DB00228 DrugBank DB00753 http://www.drugbank.ca/drugs/DB00753 DrugBank DB00898 http://www.drugbank.ca/drugs/DB00898 DrugBank DB01028 http://www.drugbank.ca/drugs/DB01028 DrugBank DB01189 http://www.drugbank.ca/drugs/DB01189 DrugBank DB01236 http://www.drugbank.ca/drugs/DB01236 DrugBank DB08883 http://www.drugbank.ca/drugs/DB08883 EMBL AC010613 http://www.ebi.ac.uk/ena/data/view/AC010613 EMBL AC025156 http://www.ebi.ac.uk/ena/data/view/AC025156 EMBL AC091960 http://www.ebi.ac.uk/ena/data/view/AC091960 EMBL AC091962 http://www.ebi.ac.uk/ena/data/view/AC091962 EMBL AK295039 http://www.ebi.ac.uk/ena/data/view/AK295039 EMBL AK295184 http://www.ebi.ac.uk/ena/data/view/AK295184 EMBL AK295827 http://www.ebi.ac.uk/ena/data/view/AK295827 EMBL AK315934 http://www.ebi.ac.uk/ena/data/view/AK315934 EMBL BC111734 http://www.ebi.ac.uk/ena/data/view/BC111734 EMBL CH471062 http://www.ebi.ac.uk/ena/data/view/CH471062 EMBL CH471062 http://www.ebi.ac.uk/ena/data/view/CH471062 EMBL M64752 http://www.ebi.ac.uk/ena/data/view/M64752 EMBL M81886 http://www.ebi.ac.uk/ena/data/view/M81886 EMBL X58633 http://www.ebi.ac.uk/ena/data/view/X58633 Ensembl ENST00000285900 http://www.ensembl.org/id/ENST00000285900 Ensembl ENST00000340592 http://www.ensembl.org/id/ENST00000340592 Ensembl ENST00000448073 http://www.ensembl.org/id/ENST00000448073 Ensembl ENST00000518142 http://www.ensembl.org/id/ENST00000518142 Ensembl ENST00000518783 http://www.ensembl.org/id/ENST00000518783 Ensembl ENST00000521843 http://www.ensembl.org/id/ENST00000521843 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000139 GO_component GO:0005789 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005789 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0008021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008021 GO_component GO:0009986 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009986 GO_component GO:0012507 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0012507 GO_component GO:0014069 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014069 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0030425 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030425 GO_component GO:0030666 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030666 GO_component GO:0032281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032281 GO_component GO:0032591 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032591 GO_component GO:0033116 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033116 GO_component GO:0043025 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043025 GO_component GO:0043197 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043197 GO_component GO:0044308 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044308 GO_component GO:0044309 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044309 GO_component GO:0045211 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045211 GO_component GO:0055037 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055037 GO_function GO:0004971 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004971 GO_function GO:0005231 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005231 GO_function GO:0005234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005234 GO_function GO:0008066 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008066 GO_function GO:0030165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030165 GO_process GO:0006888 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006888 GO_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GO_process GO:0007268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007268 GO_process GO:0007616 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007616 GO_process GO:0031623 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031623 GO_process GO:0048208 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048208 GO_process GO:0060292 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060292 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0031410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0016192 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016192 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GeneCards GRIA1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=GRIA1 GeneID 2890 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=2890 GeneTree ENSGT00760000118920 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118920 H-InvDB HIX0032120 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0032120 HGNC HGNC:4571 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:4571 HOGENOM HOG000234372 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000234372&db=HOGENOM6 HOVERGEN HBG051839 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG051839&db=HOVERGEN HPA CAB001965 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB001965 HPA HPA035202 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA035202 InParanoid P42261 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P42261 InterPro IPR001320 http://www.ebi.ac.uk/interpro/entry/IPR001320 InterPro IPR001508 http://www.ebi.ac.uk/interpro/entry/IPR001508 InterPro IPR001828 http://www.ebi.ac.uk/interpro/entry/IPR001828 InterPro IPR019594 http://www.ebi.ac.uk/interpro/entry/IPR019594 InterPro IPR028082 http://www.ebi.ac.uk/interpro/entry/IPR028082 Jabion 2890 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=2890 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:2890 http://www.genome.jp/dbget-bin/www_bget?hsa:2890 KEGG_Orthology KO:K05197 http://www.genome.jp/dbget-bin/www_bget?KO:K05197 KEGG_Pathway ko04080 http://www.genome.jp/kegg-bin/show_pathway?ko04080 KEGG_Pathway ko04713 http://www.genome.jp/kegg-bin/show_pathway?ko04713 KEGG_Pathway ko04720 http://www.genome.jp/kegg-bin/show_pathway?ko04720 KEGG_Pathway ko04723 http://www.genome.jp/kegg-bin/show_pathway?ko04723 KEGG_Pathway ko04724 http://www.genome.jp/kegg-bin/show_pathway?ko04724 KEGG_Pathway ko04728 http://www.genome.jp/kegg-bin/show_pathway?ko04728 KEGG_Pathway ko04730 http://www.genome.jp/kegg-bin/show_pathway?ko04730 KEGG_Pathway ko05014 http://www.genome.jp/kegg-bin/show_pathway?ko05014 KEGG_Pathway ko05031 http://www.genome.jp/kegg-bin/show_pathway?ko05031 KEGG_Pathway ko05033 http://www.genome.jp/kegg-bin/show_pathway?ko05033 MIM 138248 http://www.ncbi.nlm.nih.gov/omim/138248 MINT MINT-271172 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-271172 OMA MQRSFTI http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=MQRSFTI OrthoDB EOG091G11CB http://cegg.unige.ch/orthodb/results?searchtext=EOG091G11CB PRINTS PR00177 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00177 PSORT swissprot:GRIA1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:GRIA1_HUMAN PSORT-B swissprot:GRIA1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:GRIA1_HUMAN PSORT2 swissprot:GRIA1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:GRIA1_HUMAN Pfam PF00060 http://pfam.xfam.org/family/PF00060 Pfam PF01094 http://pfam.xfam.org/family/PF01094 Pfam PF10613 http://pfam.xfam.org/family/PF10613 PharmGKB PA28966 http://www.pharmgkb.org/do/serve?objId=PA28966&objCls=Gene Phobius swissprot:GRIA1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:GRIA1_HUMAN PhylomeDB P42261 http://phylomedb.org/?seqid=P42261 ProteinModelPortal P42261 http://www.proteinmodelportal.org/query/uniprot/P42261 PubMed 1311100 http://www.ncbi.nlm.nih.gov/pubmed/1311100 PubMed 1320959 http://www.ncbi.nlm.nih.gov/pubmed/1320959 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15372022 http://www.ncbi.nlm.nih.gov/pubmed/15372022 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 1652753 http://www.ncbi.nlm.nih.gov/pubmed/1652753 PubMed 20805473 http://www.ncbi.nlm.nih.gov/pubmed/20805473 PubMed 21172611 http://www.ncbi.nlm.nih.gov/pubmed/21172611 PubMed 23739980 http://www.ncbi.nlm.nih.gov/pubmed/23739980 Reactome R-HSA-204005 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-204005 Reactome R-HSA-399710 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-399710 Reactome R-HSA-399719 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-399719 Reactome R-HSA-416993 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-416993 Reactome R-HSA-438066 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-438066 Reactome R-HSA-5694530 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5694530 Reactome R-HSA-8849932 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-8849932 RefSeq NP_000818 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000818 RefSeq NP_001107655 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001107655 RefSeq NP_001244948 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001244948 RefSeq NP_001244950 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001244950 RefSeq NP_001244951 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001244951 RefSeq NP_001244952 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001244952 SMART SM00079 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00079 SMART SM00918 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00918 SMR P42261 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P42261 STRING 9606.ENSP00000285900 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000285900&targetmode=cogs SUPFAM SSF53822 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF53822 UCSC uc003luy http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003luy&org=rat UniGene Hs.519693 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.519693 UniGene Hs.737709 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.737709 UniProtKB GRIA1_HUMAN http://www.uniprot.org/uniprot/GRIA1_HUMAN UniProtKB-AC P42261 http://www.uniprot.org/uniprot/P42261 charge swissprot:GRIA1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:GRIA1_HUMAN eggNOG ENOG410XPSH http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XPSH eggNOG KOG1054 http://eggnogapi.embl.de/nog_data/html/tree/KOG1054 epestfind swissprot:GRIA1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:GRIA1_HUMAN garnier swissprot:GRIA1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:GRIA1_HUMAN helixturnhelix swissprot:GRIA1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:GRIA1_HUMAN hmoment swissprot:GRIA1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:GRIA1_HUMAN iep swissprot:GRIA1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:GRIA1_HUMAN inforesidue swissprot:GRIA1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:GRIA1_HUMAN neXtProt NX_P42261 http://www.nextprot.org/db/entry/NX_P42261 octanol swissprot:GRIA1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:GRIA1_HUMAN pepcoil swissprot:GRIA1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:GRIA1_HUMAN pepdigest swissprot:GRIA1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:GRIA1_HUMAN pepinfo swissprot:GRIA1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:GRIA1_HUMAN pepnet swissprot:GRIA1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:GRIA1_HUMAN pepstats swissprot:GRIA1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:GRIA1_HUMAN pepwheel swissprot:GRIA1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:GRIA1_HUMAN pepwindow swissprot:GRIA1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:GRIA1_HUMAN sigcleave swissprot:GRIA1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:GRIA1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS TMCO1_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9UM00-1; Sequence=Displayed; Name=2; IsoId=Q9UM00-2; Sequence=VSP_019505; Note=No experimental confirmation available.; # AltName Transmembrane and coiled-coil domain-containing protein 1 {ECO 0000305} # AltName Transmembrane and coiled-coil domains protein 4 {ECO 0000305} # AltName Xenogeneic cross-immune protein PCIA3 {ECO 0000303|Ref.2} # BioGrid 119995 42 # ChiTaRS TMCO1 human # DISEASE TMCO1_HUMAN Craniofacial dysmorphism, skeletal anomalies and mental retardation syndrome (CFSMR) [MIM 213980] A disorder characterized by craniofacial and skeletal anomalies, associated with mental retardation. Typical craniofacial dysmorphism include brachycephaly, highly arched bushy eyebrows, synophrys, long eyelashes, low-set ears, microdontism of primary teeth, and generalized gingival hyperplasia, whereas Sprengel deformity of scapula, fusion of spine, rib abnormities, pectus excavatum, and pes planus represent skeletal anomalies. {ECO 0000269|PubMed 20018682, ECO 0000269|PubMed 23320496, ECO 0000269|PubMed 24194475}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE TMCO1_HUMAN Glaucoma, primary open angle (POAG) [MIM 137760] A complex and genetically heterogeneous ocular disorder characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place. In some cases, POAG shows digenic inheritance involving mutations in CYP1B1 and MYOC genes. {ECO 0000269|PubMed 21532571, ECO 0000269|PubMed 22714896}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. # Ensembl ENST00000392129 ENSP00000375975; ENSG00000143183. [Q9UM00-1] # ExpressionAtlas Q9UM00 baseline and differential # FUNCTION TMCO1_HUMAN Calcium-selective channel required to prevent calcium stores from overfilling, thereby playing a key role in calcium homeostasis (PubMed 27212239). In response to endoplasmic reticulum overloading, assembles into a homotetramer, forming a functional calcium-selective channel, regulating the calcium content in endoplasmic reticulum store (PubMed 27212239). {ECO 0000269|PubMed 27212239}. # GO_component GO:0000139 Golgi membrane; IEA:UniProtKB-SubCell. # GO_component GO:0005783 endoplasmic reticulum; IDA:HPA. # GO_component GO:0030176 integral component of endoplasmic reticulum membrane; IDA:UniProtKB. # GO_function GO:0005262 calcium channel activity; IDA:UniProtKB. # GO_process GO:0006983 ER overload response; IDA:UniProtKB. # GO_process GO:0032469 endoplasmic reticulum calcium ion homeostasis; IDA:UniProtKB. # GO_process GO:0070588 calcium ion transmembrane transport; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Genevisible Q9UM00 HS # HGNC HGNC:18188 TMCO1 # IntAct Q9UM00 20 # InterPro IPR002809 EMC3/TMCO1 # InterPro IPR008559 TMCO1 # MIM 137760 phenotype # MIM 213980 phenotype # MIM 614123 gene # Organism TMCO1_HUMAN Homo sapiens (Human) # Orphanet 1394 Cerebro-facio-thoracic dysplasia # PANTHER PTHR20917 PTHR20917 # PIRSF PIRSF023322 DUF841_euk # Pfam PF01956 DUF106 # Proteomes UP000005640 Chromosome 1 # RecName Calcium load-activated calcium channel {ECO:0000305|PubMed 27212239} # RefSeq NP_061899 NM_019026.4 # SEQUENCE CAUTION Sequence=AAC25388.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAK07514.1; Type=Frameshift; Positions=Several; Evidence={ECO 0000305}; Sequence=AAK07549.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305}; # SIMILARITY Belongs to the TMCO1 family. {ECO 0000305}. # SMART SM01415 DUF106 # SUBCELLULAR LOCATION TMCO1_HUMAN Endoplasmic reticulum membrane {ECO 0000269|PubMed 10393320, ECO 0000269|PubMed 27212239}; Multi- pass membrane protein {ECO 0000269|PubMed 10393320, ECO 0000269|PubMed 27212239}. Golgi apparatus membrane {ECO 0000269|PubMed 10393320}; Multi-pass membrane protein {ECO 0000269|PubMed 10393320}. Note=The first transmembrane region is required for localization to the endoplasmic reticulum (PubMed 27212239). A publication reported localization in cytoplasm and nucleus (PubMed 22714896). Nuclear localization is however in contradiction with two other reports (PubMed 10393320, PubMed 27212239). {ECO 0000269|PubMed 10393320, ECO 0000269|PubMed 22714896, ECO 0000269|PubMed 27212239}. # SUBUNIT TMCO1_HUMAN Homodimer and homotetramer (PubMed 27212239). Homodimer under resting conditions; forms homotetramers following and endoplasmic reticulum calcium overload (PubMed 27212239). {ECO 0000269|PubMed 27212239}. # TCDB 1.A.106.1 the calcium load-activated calcium channel (clac) family # TISSUE SPECIFICITY TMCO1_HUMAN Widely expressed in adult and fetal tissues, with higher levels in thymus, prostate, testis and small intestine and lower levels in brain, placenta, lung and kidney (PubMed 10393320, PubMed 20018682). Present in most tissues in the eye, including the trabecular meshwork and retina (at protein level) (PubMed 22714896). {ECO 0000269|PubMed 10393320, ECO 0000269|PubMed 20018682, ECO 0000269|PubMed 22714896}. # TopDownProteomics Q9UM00-1 -. [Q9UM00-1] # UCSC uc057mzb human. [Q9UM00-1] # eggNOG ENOG410XR8B LUCA # eggNOG KOG3312 Eukaryota BLAST swissprot:TMCO1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:TMCO1_HUMAN COXPRESdb 54499 http://coxpresdb.jp/data/gene/54499.shtml CleanEx HS_TMCO1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_TMCO1 DOI 10.1002/ajmg.a.36248 http://dx.doi.org/10.1002/ajmg.a.36248 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1016/j.cell.2006.09.026 http://dx.doi.org/10.1016/j.cell.2006.09.026 DOI 10.1016/j.cell.2016.04.051 http://dx.doi.org/10.1016/j.cell.2016.04.051 DOI 10.1016/j.molcel.2008.07.007 http://dx.doi.org/10.1016/j.molcel.2008.07.007 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1038/ng.824 http://dx.doi.org/10.1038/ng.824 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1073/pnas.0908457107 http://dx.doi.org/10.1073/pnas.0908457107 DOI 10.1093/oxfordjournals.jbchem.a022435 http://dx.doi.org/10.1093/oxfordjournals.jbchem.a022435 DOI 10.1101/gr.1293003 http://dx.doi.org/10.1101/gr.1293003 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/cge.12088 http://dx.doi.org/10.1111/cge.12088 DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 DOI 10.1167/iovs.11-9047 http://dx.doi.org/10.1167/iovs.11-9047 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AB020980 http://www.ebi.ac.uk/ena/data/view/AB020980 EMBL AF070626 http://www.ebi.ac.uk/ena/data/view/AF070626 EMBL AF274935 http://www.ebi.ac.uk/ena/data/view/AF274935 EMBL AF277194 http://www.ebi.ac.uk/ena/data/view/AF277194 EMBL AK316610 http://www.ebi.ac.uk/ena/data/view/AK316610 EMBL AL451074 http://www.ebi.ac.uk/ena/data/view/AL451074 EMBL AY359027 http://www.ebi.ac.uk/ena/data/view/AY359027 EMBL AY763589 http://www.ebi.ac.uk/ena/data/view/AY763589 EMBL BC000104 http://www.ebi.ac.uk/ena/data/view/BC000104 Ensembl ENST00000392129 http://www.ensembl.org/id/ENST00000392129 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000139 GO_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GO_component GO:0030176 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030176 GO_function GO:0005262 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005262 GO_process GO:0006983 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006983 GO_process GO:0032469 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032469 GO_process GO:0070588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070588 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards TMCO1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=TMCO1 GeneID 54499 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=54499 GeneTree ENSGT00390000002659 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000002659 HGNC HGNC:18188 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:18188 HOGENOM HOG000240371 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000240371&db=HOGENOM6 HOVERGEN HBG054437 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG054437&db=HOVERGEN HPA HPA054768 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA054768 InParanoid Q9UM00 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9UM00 IntAct Q9UM00 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9UM00* InterPro IPR002809 http://www.ebi.ac.uk/interpro/entry/IPR002809 InterPro IPR008559 http://www.ebi.ac.uk/interpro/entry/IPR008559 Jabion 54499 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=54499 KEGG_Gene hsa:54499 http://www.genome.jp/dbget-bin/www_bget?hsa:54499 MIM 137760 http://www.ncbi.nlm.nih.gov/omim/137760 MIM 213980 http://www.ncbi.nlm.nih.gov/omim/213980 MIM 614123 http://www.ncbi.nlm.nih.gov/omim/614123 Orphanet 1394 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1394 PANTHER PTHR20917 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR20917 PSORT swissprot:TMCO1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:TMCO1_HUMAN PSORT-B swissprot:TMCO1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:TMCO1_HUMAN PSORT2 swissprot:TMCO1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:TMCO1_HUMAN Pfam PF01956 http://pfam.xfam.org/family/PF01956 PharmGKB PA142670792 http://www.pharmgkb.org/do/serve?objId=PA142670792&objCls=Gene Phobius swissprot:TMCO1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:TMCO1_HUMAN PhylomeDB Q9UM00 http://phylomedb.org/?seqid=Q9UM00 ProteinModelPortal Q9UM00 http://www.proteinmodelportal.org/query/uniprot/Q9UM00 PubMed 10393320 http://www.ncbi.nlm.nih.gov/pubmed/10393320 PubMed 12975309 http://www.ncbi.nlm.nih.gov/pubmed/12975309 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 17081983 http://www.ncbi.nlm.nih.gov/pubmed/17081983 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 18691976 http://www.ncbi.nlm.nih.gov/pubmed/18691976 PubMed 20018682 http://www.ncbi.nlm.nih.gov/pubmed/20018682 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 21532571 http://www.ncbi.nlm.nih.gov/pubmed/21532571 PubMed 22714896 http://www.ncbi.nlm.nih.gov/pubmed/22714896 PubMed 23320496 http://www.ncbi.nlm.nih.gov/pubmed/23320496 PubMed 24194475 http://www.ncbi.nlm.nih.gov/pubmed/24194475 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 27212239 http://www.ncbi.nlm.nih.gov/pubmed/27212239 RefSeq NP_061899 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_061899 SMART SM01415 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM01415 STRING 9606.ENSP00000375975 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000375975&targetmode=cogs TCDB 1.A.106.1 http://www.tcdb.org/search/result.php?tc=1.A.106.1 UCSC uc057mzb http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc057mzb&org=rat UniGene Hs.31498 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.31498 UniProtKB TMCO1_HUMAN http://www.uniprot.org/uniprot/TMCO1_HUMAN UniProtKB-AC Q9UM00 http://www.uniprot.org/uniprot/Q9UM00 charge swissprot:TMCO1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:TMCO1_HUMAN eggNOG ENOG410XR8B http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XR8B eggNOG KOG3312 http://eggnogapi.embl.de/nog_data/html/tree/KOG3312 epestfind swissprot:TMCO1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:TMCO1_HUMAN garnier swissprot:TMCO1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:TMCO1_HUMAN helixturnhelix swissprot:TMCO1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:TMCO1_HUMAN hmoment swissprot:TMCO1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:TMCO1_HUMAN iep swissprot:TMCO1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:TMCO1_HUMAN inforesidue swissprot:TMCO1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:TMCO1_HUMAN neXtProt NX_Q9UM00 http://www.nextprot.org/db/entry/NX_Q9UM00 octanol swissprot:TMCO1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:TMCO1_HUMAN pepcoil swissprot:TMCO1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:TMCO1_HUMAN pepdigest swissprot:TMCO1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:TMCO1_HUMAN pepinfo swissprot:TMCO1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:TMCO1_HUMAN pepnet swissprot:TMCO1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:TMCO1_HUMAN pepstats swissprot:TMCO1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:TMCO1_HUMAN pepwheel swissprot:TMCO1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:TMCO1_HUMAN pepwindow swissprot:TMCO1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:TMCO1_HUMAN sigcleave swissprot:TMCO1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:TMCO1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS NOX5_HUMAN Event=Alternative splicing; Named isoforms=6; Name=v3; Synonyms=NOX5gamma; IsoId=Q96PH1-1; Sequence=Displayed; Name=v1; Synonyms=NOX5alpha; IsoId=Q96PH1-3; Sequence=VSP_017328; Name=v2; Synonyms=NOX5beta; IsoId=Q96PH1-4; Sequence=VSP_017327, VSP_017328; Name=v4; Synonyms=NOX5delta; IsoId=Q96PH1-2; Sequence=VSP_017327; Name=v5; Synonyms=NOX5epsilon, NOX5S; IsoId=Q96PH1-5; Sequence=VSP_017326; Name=v6; Synonyms=NOX5zeta; IsoId=Q96PH1-6; Sequence=VSP_041619, VSP_017328; Note=No experimental confirmation available.; # BIOPHYSICOCHEMICAL PROPERTIES Kinetic parameters: KM=1.06 uM for calcium {ECO 0000269|PubMed:14982937}; # BioGrid 122660 12 # CCDS CCDS32276 -. [Q96PH1-1] # CCDS CCDS53953 -. [Q96PH1-6] # CCDS CCDS53954 -. [Q96PH1-3] # CDD cd00051 EFh; 2 # COFACTOR NOX5_HUMAN Name=FAD; Xref=ChEBI CHEBI 57692; Evidence={ECO 0000269|PubMed 14982937}; # COFACTOR NOX5_HUMAN Name=Mg(2+); Xref=ChEBI CHEBI 18420; Evidence={ECO 0000269|PubMed 14982937}; # DEVELOPMENTAL STAGE Expressed in fetal tissues. {ECO:0000269|PubMed 11376945}. # DOMAIN NOX5_HUMAN Isoform v1 and isoform v2 of this protein have four functional EF-hand calcium-binding domains. Isoform v3 and isoform v4 have the third EF-hand domain interrupted by an insert. # ENZYME REGULATION Activated by calcium which induces conformational changes and interaction between the N-terminal regulatory region and the C-terminal catalytic region. Inhibited by diphenylene iodonium. {ECO:0000269|PubMed 14982937}. # Ensembl ENST00000260364 ENSP00000454143; ENSG00000255346. [Q96PH1-2] # Ensembl ENST00000388866 ENSP00000373518; ENSG00000255346. [Q96PH1-1] # Ensembl ENST00000448182 ENSP00000410887; ENSG00000255346. [Q96PH1-4] # Ensembl ENST00000455873 ENSP00000416828; ENSG00000255346. [Q96PH1-6] # Ensembl ENST00000530406 ENSP00000432440; ENSG00000255346. [Q96PH1-3] # ExpressionAtlas Q96PH1 baseline and differential # FUNCTION NOX5_HUMAN Calcium-dependent NADPH oxidase that generates superoxide. Also functions as a calcium-dependent proton channel and may regulate redox-dependent processes in lymphocytes and spermatozoa. May play a role in cell growth and apoptosis. Isoform v2 and isoform v5 are involved in endothelial generation of reactive oxygen species (ROS), proliferation and angiogenesis and contribute to endothelial response to thrombin. {ECO 0000269|PubMed 11483596, ECO 0000269|PubMed 12686516, ECO 0000269|PubMed 17275676}. # GO_component GO:0005783 endoplasmic reticulum; IDA:UniProtKB. # GO_component GO:0005789 endoplasmic reticulum membrane; TAS:Reactome. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0005509 calcium ion binding; IEA:InterPro. # GO_function GO:0015252 hydrogen ion channel activity; IDA:UniProtKB. # GO_function GO:0016175 superoxide-generating NADPH oxidase activity; IDA:UniProtKB. # GO_function GO:0020037 heme binding; NAS:UniProtKB. # GO_function GO:0050660 flavin adenine dinucleotide binding; NAS:UniProtKB. # GO_function GO:0050661 NADP binding; NAS:UniProtKB. # GO_process GO:0000302 response to reactive oxygen species; TAS:Reactome. # GO_process GO:0000910 cytokinesis; NAS:UniProtKB. # GO_process GO:0001525 angiogenesis; IDA:UniProtKB. # GO_process GO:0001935 endothelial cell proliferation; IDA:UniProtKB. # GO_process GO:0006915 apoptotic process; NAS:UniProtKB. # GO_process GO:0008283 cell proliferation; NAS:UniProtKB. # GO_process GO:0010155 regulation of proton transport; NAS:UniProtKB. # GO_process GO:0042554 superoxide anion generation; IDA:UniProtKB. # GO_process GO:0043012 regulation of fusion of sperm to egg plasma membrane; NAS:UniProtKB. # GO_process GO:0050663 cytokine secretion; NAS:UniProtKB. # GO_process GO:0055114 oxidation-reduction process; IDA:UniProtKB. # GO_process GO:2000379 positive regulation of reactive oxygen species metabolic process; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0016491 oxidoreductase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0008150 biological_process # GOslim_process GO:0008219 cell death # GOslim_process GO:0008283 cell proliferation # GOslim_process GO:0048646 anatomical structure formation involved in morphogenesis # Gene3D 1.10.238.10 -; 1. # Genevisible Q96PH1 HS # HGNC HGNC:14874 NOX5 # INDUCTION Down-regulated by TGFB1. {ECO:0000269|PubMed 16179589}. # INTERACTION NOX5_HUMAN P62157 CALM (xeno); NbExp=3; IntAct=EBI-7305642, EBI-397403; # InterPro IPR002048 EF_hand_dom # InterPro IPR011992 EF-hand-dom_pair # InterPro IPR013112 FAD-bd_8 # InterPro IPR013121 Fe_red_NAD-bd_6 # InterPro IPR013130 Fe3_Rdtase_TM_dom # InterPro IPR017927 Fd_Rdtase_FAD-bd # InterPro IPR017938 Riboflavin_synthase-like_b-brl # InterPro IPR018247 EF_Hand_1_Ca_BS # InterPro IPR029648 NOX5 # MIM 606572 gene # Organism NOX5_HUMAN Homo sapiens (Human) # PANTHER PTHR11972:SF58 PTHR11972:SF58; 3 # PROSITE PS00018 EF_HAND_1; 2 # PROSITE PS50222 EF_HAND_2; 3 # PROSITE PS51384 FAD_FR # PeroxiBase 6024 HsNOx05 # Pfam PF01794 Ferric_reduct # Pfam PF08022 FAD_binding_8 # Pfam PF08030 NAD_binding_6 # Pfam PF13202 EF-hand_5 # Pfam PF13405 EF-hand_6 # Proteomes UP000005640 Chromosome 15 # Reactome R-HSA-3299685 Detoxification of Reactive Oxygen Species # RecName NOX5_HUMAN NADPH oxidase 5 # RefSeq NP_001171708 NM_001184779.1. [Q96PH1-3] # RefSeq NP_001171709 NM_001184780.1. [Q96PH1-6] # RefSeq NP_078781 NM_024505.3. [Q96PH1-1] # SEQUENCE CAUTION Sequence=AAG33638.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB15319.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; Sequence=BAB84897.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; # SIMILARITY Contains 1 FAD-binding FR-type domain. {ECO:0000255|PROSITE-ProRule PRU00716}. # SIMILARITY Contains 1 ferric oxidoreductase domain. {ECO 0000305}. # SIMILARITY Contains 4 EF-hand domains. {ECO:0000255|PROSITE- ProRule PRU00448}. # SMART SM00054 EFh; 2 # SUBCELLULAR LOCATION NOX5_HUMAN Isoform v2 Endoplasmic reticulum. # SUBCELLULAR LOCATION NOX5_HUMAN Isoform v5 Endoplasmic reticulum. # SUBCELLULAR LOCATION NOX5_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # SUPFAM SSF47473 SSF47473; 2 # SUPFAM SSF63380 SSF63380; 2 # TCDB 5.B.1.1 the phagocyte (gp91(phox)) nadph oxidase family # TISSUE SPECIFICITY NOX5_HUMAN Mainly expressed in pachytene spermatocytes of testis and in lymphocyte-rich areas of spleen and lymph nodes. Isoform v1 is expressed in spleen. Isoform v2 is expressed in testis. Also detected in ovary, placenta, pancreas, cardiac fibroblasts. Expressed in B-cells and prostate malignant cells. Isoform v1 and isoform v3 are expressed in epithelial colorectal adenocarcinoma cells. Isoform v2 and isoform v4 are expressed in endothelial cells. Isoform v1, isoform v2, isoform v3 and isoform v4 are expressed in pulmonary artery smooth muscle cells. Isoform v2 and isoform v5 are expressed in microvascular endothelial cells (at protein level). {ECO 0000269|PubMed 11376945, ECO 0000269|PubMed 11483596, ECO 0000269|PubMed 12686516, ECO 0000269|PubMed 16179589, ECO 0000269|PubMed 16339585, ECO 0000269|PubMed 17275676}. # UCSC uc002arp human. [Q96PH1-1] # eggNOG ENOG410XNZY LUCA # eggNOG KOG0039 Eukaryota BLAST swissprot:NOX5_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:NOX5_HUMAN BioCyc ZFISH:HS06400-MONOMER http://biocyc.org/getid?id=ZFISH:HS06400-MONOMER COXPRESdb 79400 http://coxpresdb.jp/data/gene/79400.shtml CleanEx HS_NOX5 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_NOX5 DOI 10.1016/S0378-1119(01)00449-8 http://dx.doi.org/10.1016/S0378-1119(01)00449-8 DOI 10.1016/j.freeradbiomed.2006.10.054 http://dx.doi.org/10.1016/j.freeradbiomed.2006.10.054 DOI 10.1038/nature04601 http://dx.doi.org/10.1038/nature04601 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.M103034200 http://dx.doi.org/10.1074/jbc.M103034200 DOI 10.1074/jbc.M310268200 http://dx.doi.org/10.1074/jbc.M310268200 DOI 10.1074/jbc.M501882200 http://dx.doi.org/10.1074/jbc.M501882200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1152/ajpcell.00525.2002 http://dx.doi.org/10.1152/ajpcell.00525.2002 DOI 10.1161/01.RES.0000187457.24338.3D http://dx.doi.org/10.1161/01.RES.0000187457.24338.3D DOI 10.4049/jimmunol.175.12.8424 http://dx.doi.org/10.4049/jimmunol.175.12.8424 EC_number EC:1.6.3.- http://www.genome.jp/dbget-bin/www_bget?EC:1.6.3.- EMBL AC027088 http://www.ebi.ac.uk/ena/data/view/AC027088 EMBL AC087639 http://www.ebi.ac.uk/ena/data/view/AC087639 EMBL AF317889 http://www.ebi.ac.uk/ena/data/view/AF317889 EMBL AF325189 http://www.ebi.ac.uk/ena/data/view/AF325189 EMBL AF325190 http://www.ebi.ac.uk/ena/data/view/AF325190 EMBL AF353088 http://www.ebi.ac.uk/ena/data/view/AF353088 EMBL AF353089 http://www.ebi.ac.uk/ena/data/view/AF353089 EMBL AK026011 http://www.ebi.ac.uk/ena/data/view/AK026011 EMBL AK074058 http://www.ebi.ac.uk/ena/data/view/AK074058 EMBL AK074071 http://www.ebi.ac.uk/ena/data/view/AK074071 EMBL AK314689 http://www.ebi.ac.uk/ena/data/view/AK314689 EMBL BC125097 http://www.ebi.ac.uk/ena/data/view/BC125097 EMBL BC125098 http://www.ebi.ac.uk/ena/data/view/BC125098 EMBL CH471082 http://www.ebi.ac.uk/ena/data/view/CH471082 EMBL DQ314884 http://www.ebi.ac.uk/ena/data/view/DQ314884 ENZYME 1.6.3.- http://enzyme.expasy.org/EC/1.6.3.- Ensembl ENST00000260364 http://www.ensembl.org/id/ENST00000260364 Ensembl ENST00000388866 http://www.ensembl.org/id/ENST00000388866 Ensembl ENST00000448182 http://www.ensembl.org/id/ENST00000448182 Ensembl ENST00000455873 http://www.ensembl.org/id/ENST00000455873 Ensembl ENST00000530406 http://www.ensembl.org/id/ENST00000530406 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GO_component GO:0005789 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005789 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005509 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005509 GO_function GO:0015252 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015252 GO_function GO:0016175 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016175 GO_function GO:0020037 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0020037 GO_function GO:0050660 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050660 GO_function GO:0050661 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050661 GO_process GO:0000302 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000302 GO_process GO:0000910 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000910 GO_process GO:0001525 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001525 GO_process GO:0001935 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001935 GO_process GO:0006915 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006915 GO_process GO:0008283 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008283 GO_process GO:0010155 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010155 GO_process GO:0042554 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042554 GO_process GO:0043012 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043012 GO_process GO:0050663 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050663 GO_process GO:0055114 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055114 GO_process GO:2000379 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000379 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0016491 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016491 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0008219 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008219 GOslim_process GO:0008283 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008283 GOslim_process GO:0048646 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048646 Gene3D 1.10.238.10 http://www.cathdb.info/version/latest/superfamily/1.10.238.10 GeneCards NOX5 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=NOX5 GeneID 79400 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=79400 GeneTree ENSGT00550000074350 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074350 H-InvDB HIX0012384 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0012384 HGNC HGNC:14874 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:14874 HOVERGEN HBG082052 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG082052&db=HOVERGEN HPA HPA019362 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA019362 InParanoid Q96PH1 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q96PH1 IntAct Q96PH1 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q96PH1* IntEnz 1.6.3 http://www.ebi.ac.uk/intenz/query?cmd=Search&q=1.6.3 InterPro IPR002048 http://www.ebi.ac.uk/interpro/entry/IPR002048 InterPro IPR011992 http://www.ebi.ac.uk/interpro/entry/IPR011992 InterPro IPR013112 http://www.ebi.ac.uk/interpro/entry/IPR013112 InterPro IPR013121 http://www.ebi.ac.uk/interpro/entry/IPR013121 InterPro IPR013130 http://www.ebi.ac.uk/interpro/entry/IPR013130 InterPro IPR017927 http://www.ebi.ac.uk/interpro/entry/IPR017927 InterPro IPR017938 http://www.ebi.ac.uk/interpro/entry/IPR017938 InterPro IPR018247 http://www.ebi.ac.uk/interpro/entry/IPR018247 InterPro IPR029648 http://www.ebi.ac.uk/interpro/entry/IPR029648 Jabion 79400 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=79400 KEGG_Gene hsa:79400 http://www.genome.jp/dbget-bin/www_bget?hsa:79400 MIM 606572 http://www.ncbi.nlm.nih.gov/omim/606572 OMA EMSSENH http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=EMSSENH OrthoDB EOG091G019B http://cegg.unige.ch/orthodb/results?searchtext=EOG091G019B PANTHER PTHR11972:SF58 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11972:SF58 PROSITE PS00018 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00018 PROSITE PS50222 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50222 PROSITE PS51384 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51384 PSORT swissprot:NOX5_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:NOX5_HUMAN PSORT-B swissprot:NOX5_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:NOX5_HUMAN PSORT2 swissprot:NOX5_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:NOX5_HUMAN PeroxiBase 6024 http://peroxibase.toulouse.inra.fr/listing.php?action=view&id=6024 Pfam PF01794 http://pfam.xfam.org/family/PF01794 Pfam PF08022 http://pfam.xfam.org/family/PF08022 Pfam PF08030 http://pfam.xfam.org/family/PF08030 Pfam PF13202 http://pfam.xfam.org/family/PF13202 Pfam PF13405 http://pfam.xfam.org/family/PF13405 PharmGKB PA31693 http://www.pharmgkb.org/do/serve?objId=PA31693&objCls=Gene Phobius swissprot:NOX5_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:NOX5_HUMAN PhylomeDB Q96PH1 http://phylomedb.org/?seqid=Q96PH1 ProteinModelPortal Q96PH1 http://www.proteinmodelportal.org/query/uniprot/Q96PH1 PubMed 11376945 http://www.ncbi.nlm.nih.gov/pubmed/11376945 PubMed 11483596 http://www.ncbi.nlm.nih.gov/pubmed/11483596 PubMed 12686516 http://www.ncbi.nlm.nih.gov/pubmed/12686516 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 14982937 http://www.ncbi.nlm.nih.gov/pubmed/14982937 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15994299 http://www.ncbi.nlm.nih.gov/pubmed/15994299 PubMed 16179589 http://www.ncbi.nlm.nih.gov/pubmed/16179589 PubMed 16339585 http://www.ncbi.nlm.nih.gov/pubmed/16339585 PubMed 16572171 http://www.ncbi.nlm.nih.gov/pubmed/16572171 PubMed 17275676 http://www.ncbi.nlm.nih.gov/pubmed/17275676 Reactome R-HSA-3299685 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-3299685 RefSeq NP_001171708 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001171708 RefSeq NP_001171709 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001171709 RefSeq NP_078781 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_078781 SMART SM00054 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00054 STRING 9606.ENSP00000373518 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000373518&targetmode=cogs SUPFAM SSF47473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF47473 SUPFAM SSF63380 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF63380 TCDB 5.B.1.1 http://www.tcdb.org/search/result.php?tc=5.B.1.1 UCSC uc002arp http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002arp&org=rat UniGene Hs.657932 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.657932 UniProtKB NOX5_HUMAN http://www.uniprot.org/uniprot/NOX5_HUMAN UniProtKB-AC Q96PH1 http://www.uniprot.org/uniprot/Q96PH1 charge swissprot:NOX5_HUMAN http://rest.g-language.org/emboss/charge/swissprot:NOX5_HUMAN eggNOG ENOG410XNZY http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XNZY eggNOG KOG0039 http://eggnogapi.embl.de/nog_data/html/tree/KOG0039 epestfind swissprot:NOX5_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:NOX5_HUMAN garnier swissprot:NOX5_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:NOX5_HUMAN helixturnhelix swissprot:NOX5_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:NOX5_HUMAN hmoment swissprot:NOX5_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:NOX5_HUMAN iep swissprot:NOX5_HUMAN http://rest.g-language.org/emboss/iep/swissprot:NOX5_HUMAN inforesidue swissprot:NOX5_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:NOX5_HUMAN neXtProt NX_Q96PH1 http://www.nextprot.org/db/entry/NX_Q96PH1 octanol swissprot:NOX5_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:NOX5_HUMAN pepcoil swissprot:NOX5_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:NOX5_HUMAN pepdigest swissprot:NOX5_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:NOX5_HUMAN pepinfo swissprot:NOX5_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:NOX5_HUMAN pepnet swissprot:NOX5_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:NOX5_HUMAN pepstats swissprot:NOX5_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:NOX5_HUMAN pepwheel swissprot:NOX5_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:NOX5_HUMAN pepwindow swissprot:NOX5_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:NOX5_HUMAN sigcleave swissprot:NOX5_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:NOX5_HUMAN ## Database ID URL or Descriptions # AltName SHRM2_HUMAN Apical-like protein # AltName SHRM2_HUMAN Protein APXL # ChiTaRS SHROOM2 human # DOMAIN SHRM2_HUMAN The ASD1 domain mediates F-actin binding. {ECO 0000250}. # Ensembl ENST00000380913 ENSP00000370299; ENSG00000146950 # ExpressionAtlas Q13796 baseline and differential # FUNCTION SHRM2_HUMAN May be involved in endothelial cell morphology changes during cell spreading. In the retinal pigment epithelium, may regulate the biogenesis of melanosomes and promote their association with the apical cell surface by inducing gamma-tubulin redistribution (By similarity). {ECO 0000250}. # GO_component GO:0005737 cytoplasm; IEA:UniProtKB-KW. # GO_component GO:0005856 cytoskeleton; ISS:UniProtKB. # GO_component GO:0005874 microtubule; IEA:UniProtKB-KW. # GO_component GO:0005886 plasma membrane; ISS:UniProtKB. # GO_component GO:0005913 cell-cell adherens junction; ISS:UniProtKB. # GO_component GO:0005923 bicellular tight junction; ISS:UniProtKB. # GO_component GO:0016324 apical plasma membrane; ISS:UniProtKB. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0003779 actin binding; ISS:UniProtKB. # GO_function GO:0008013 beta-catenin binding; ISS:UniProtKB. # GO_function GO:0015280 ligand-gated sodium channel activity; TAS:ProtInc. # GO_function GO:0051015 actin filament binding; ISS:UniProtKB. # GO_process GO:0002089 lens morphogenesis in camera-type eye; ISS:HGNC. # GO_process GO:0007420 brain development; ISS:HGNC. # GO_process GO:0008057 eye pigment granule organization; ISS:HGNC. # GO_process GO:0016477 cell migration; ISS:UniProtKB. # GO_process GO:0032401 establishment of melanosome localization; ISS:HGNC. # GO_process GO:0032438 melanosome organization; ISS:HGNC. # GO_process GO:0043010 camera-type eye development; ISS:HGNC. # GO_process GO:0043482 cellular pigment accumulation; ISS:HGNC. # GO_process GO:0043583 ear development; ISS:HGNC. # GO_process GO:0045176 apical protein localization; ISS:HGNC. # GO_process GO:0048593 camera-type eye morphogenesis; ISS:HGNC. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005856 cytoskeleton # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0008092 cytoskeletal protein binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0008150 biological_process # GOslim_process GO:0043473 pigmentation # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0048870 cell motility # Gene3D 2.30.42.10 -; 1. # Genevisible Q13796 HS # HGNC HGNC:630 SHROOM2 # INTERACTION SHRM2_HUMAN P16333 NCK1; NbExp=2; IntAct=EBI-1644065, EBI-389883; # IntAct Q13796 5 # InterPro IPR001478 PDZ # InterPro IPR014799 ASD2_dom # InterPro IPR014800 ASD1_dom # InterPro IPR027685 Shroom_fam # MIM 300103 gene # Organism SHRM2_HUMAN Homo sapiens (Human) # PANTHER PTHR15012 PTHR15012 # PDB 5F4Y X-ray; 3.29 A; A/B=1427-1610 # PDB 5F5P X-ray; 3.57 A; A/B/G/H=1427-1610 # PIR I37183 I37183 # PROSITE PS50106 PDZ # PROSITE PS51306 ASD1 # PROSITE PS51307 ASD2 # Pfam PF00595 PDZ # Pfam PF08687 ASD2 # Pfam PF08688 ASD1 # Proteomes UP000005640 Chromosome X # RecName SHRM2_HUMAN Protein Shroom2 # RefSeq NP_001307592 NM_001320663.1 # RefSeq NP_001307593 NM_001320664.1 # RefSeq NP_001640 NM_001649.3 # SIMILARITY Belongs to the shroom family. {ECO 0000305}. # SIMILARITY Contains 1 ASD1 domain. {ECO:0000255|PROSITE- ProRule PRU00637}. # SIMILARITY Contains 1 ASD2 domain. {ECO:0000255|PROSITE- ProRule PRU00638}. # SIMILARITY Contains 1 PDZ (DHR) domain. {ECO:0000255|PROSITE- ProRule PRU00143}. # SMART SM00228 PDZ # SUBCELLULAR LOCATION SHRM2_HUMAN Apical cell membrane {ECO 0000250}. Cell junction, tight junction {ECO 0000250}. Cytoplasm, cytoskeleton {ECO 0000250}. Note=Associates with cortical F-actin. {ECO 0000250}. # SUBUNIT Interacts with F-actin. {ECO 0000250}. # SUPFAM SSF50156 SSF50156 # TISSUE SPECIFICITY SHRM2_HUMAN Abundant in retina and melanoma; also in brain, placenta, lung, kidney and pancreas. # UCSC uc004csu human # eggNOG ENOG410II86 Eukaryota # eggNOG ENOG41113GY LUCA BLAST swissprot:SHRM2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SHRM2_HUMAN BioCyc ZFISH:ENSG00000146950-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000146950-MONOMER COXPRESdb 357 http://coxpresdb.jp/data/gene/357.shtml CleanEx HS_SHROOM2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SHROOM2 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1038/nature03440 http://dx.doi.org/10.1038/nature03440 DOI 10.1093/hmg/4.3.373 http://dx.doi.org/10.1093/hmg/4.3.373 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1133427 http://dx.doi.org/10.1126/science.1133427 DOI 10.1126/scisignal.2001570 http://dx.doi.org/10.1126/scisignal.2001570 DOI 10.1186/1471-2121-7-18 http://dx.doi.org/10.1186/1471-2121-7-18 EMBL AC002365 http://www.ebi.ac.uk/ena/data/view/AC002365 EMBL AC090481 http://www.ebi.ac.uk/ena/data/view/AC090481 EMBL BC140866 http://www.ebi.ac.uk/ena/data/view/BC140866 EMBL X83543 http://www.ebi.ac.uk/ena/data/view/X83543 Ensembl ENST00000380913 http://www.ensembl.org/id/ENST00000380913 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005856 GO_component GO:0005874 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005874 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005913 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005913 GO_component GO:0005923 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005923 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0003779 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003779 GO_function GO:0008013 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008013 GO_function GO:0015280 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015280 GO_function GO:0051015 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051015 GO_process GO:0002089 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002089 GO_process GO:0007420 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007420 GO_process GO:0008057 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008057 GO_process GO:0016477 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016477 GO_process GO:0032401 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032401 GO_process GO:0032438 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032438 GO_process GO:0043010 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043010 GO_process GO:0043482 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043482 GO_process GO:0043583 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043583 GO_process GO:0045176 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045176 GO_process GO:0048593 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048593 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005856 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0008092 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008092 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0043473 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043473 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0048870 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048870 Gene3D 2.30.42.10 http://www.cathdb.info/version/latest/superfamily/2.30.42.10 GeneCards SHROOM2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SHROOM2 GeneID 357 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=357 GeneTree ENSGT00530000063061 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000063061 HGNC HGNC:630 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:630 HOGENOM HOG000008235 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000008235&db=HOGENOM6 HOVERGEN HBG096290 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG096290&db=HOVERGEN HPA HPA051646 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA051646 InParanoid Q13796 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q13796 IntAct Q13796 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q13796* InterPro IPR001478 http://www.ebi.ac.uk/interpro/entry/IPR001478 InterPro IPR014799 http://www.ebi.ac.uk/interpro/entry/IPR014799 InterPro IPR014800 http://www.ebi.ac.uk/interpro/entry/IPR014800 InterPro IPR027685 http://www.ebi.ac.uk/interpro/entry/IPR027685 Jabion 357 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=357 KEGG_Gene hsa:357 http://www.genome.jp/dbget-bin/www_bget?hsa:357 MIM 300103 http://www.ncbi.nlm.nih.gov/omim/300103 OMA WKEQRKP http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=WKEQRKP OrthoDB EOG091G00F1 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G00F1 PANTHER PTHR15012 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR15012 PDB 5F4Y http://www.ebi.ac.uk/pdbe-srv/view/entry/5F4Y PDB 5F5P http://www.ebi.ac.uk/pdbe-srv/view/entry/5F5P PDBsum 5F4Y http://www.ebi.ac.uk/pdbsum/5F4Y PDBsum 5F5P http://www.ebi.ac.uk/pdbsum/5F5P PROSITE PS50106 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50106 PROSITE PS51306 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51306 PROSITE PS51307 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51307 PSORT swissprot:SHRM2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SHRM2_HUMAN PSORT-B swissprot:SHRM2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SHRM2_HUMAN PSORT2 swissprot:SHRM2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SHRM2_HUMAN Pfam PF00595 http://pfam.xfam.org/family/PF00595 Pfam PF08687 http://pfam.xfam.org/family/PF08687 Pfam PF08688 http://pfam.xfam.org/family/PF08688 PharmGKB PA24916 http://www.pharmgkb.org/do/serve?objId=PA24916&objCls=Gene Phobius swissprot:SHRM2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SHRM2_HUMAN PhylomeDB Q13796 http://phylomedb.org/?seqid=Q13796 ProteinModelPortal Q13796 http://www.proteinmodelportal.org/query/uniprot/Q13796 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15772651 http://www.ncbi.nlm.nih.gov/pubmed/15772651 PubMed 16615870 http://www.ncbi.nlm.nih.gov/pubmed/16615870 PubMed 16959974 http://www.ncbi.nlm.nih.gov/pubmed/16959974 PubMed 21406692 http://www.ncbi.nlm.nih.gov/pubmed/21406692 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 7795590 http://www.ncbi.nlm.nih.gov/pubmed/7795590 RefSeq NP_001307592 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001307592 RefSeq NP_001307593 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001307593 RefSeq NP_001640 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001640 SMART SM00228 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00228 SMR Q13796 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q13796 STRING 9606.ENSP00000370299 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000370299&targetmode=cogs SUPFAM SSF50156 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF50156 UCSC uc004csu http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc004csu&org=rat UniGene Hs.567236 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.567236 UniProtKB SHRM2_HUMAN http://www.uniprot.org/uniprot/SHRM2_HUMAN UniProtKB-AC Q13796 http://www.uniprot.org/uniprot/Q13796 charge swissprot:SHRM2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SHRM2_HUMAN eggNOG ENOG410II86 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410II86 eggNOG ENOG41113GY http://eggnogapi.embl.de/nog_data/html/tree/ENOG41113GY epestfind swissprot:SHRM2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SHRM2_HUMAN garnier swissprot:SHRM2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SHRM2_HUMAN helixturnhelix swissprot:SHRM2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SHRM2_HUMAN hmoment swissprot:SHRM2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SHRM2_HUMAN iep swissprot:SHRM2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SHRM2_HUMAN inforesidue swissprot:SHRM2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SHRM2_HUMAN neXtProt NX_Q13796 http://www.nextprot.org/db/entry/NX_Q13796 octanol swissprot:SHRM2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SHRM2_HUMAN pepcoil swissprot:SHRM2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SHRM2_HUMAN pepdigest swissprot:SHRM2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SHRM2_HUMAN pepinfo swissprot:SHRM2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SHRM2_HUMAN pepnet swissprot:SHRM2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SHRM2_HUMAN pepstats swissprot:SHRM2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SHRM2_HUMAN pepwheel swissprot:SHRM2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SHRM2_HUMAN pepwindow swissprot:SHRM2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SHRM2_HUMAN sigcleave swissprot:SHRM2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SHRM2_HUMAN ## Database ID URL or Descriptions # AltName AT5F1_HUMAN ATP synthase proton-transporting mitochondrial F(0) complex subunit B1 # AltName AT5F1_HUMAN ATP synthase subunit b # BioGrid 107000 115 # Ensembl ENST00000369722 ENSP00000358737; ENSG00000116459 # ExpressionAtlas P24539 baseline and differential # FUNCTION AT5F1_HUMAN Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(0) domain and the peripheric stalk, which acts as a stator to hold the catalytic alpha(3)beta(3) subcomplex and subunit a/ATP6 static relative to the rotary elements. # GO_component GO:0000276 mitochondrial proton-transporting ATP synthase complex, coupling factor F(o); IBA:GO_Central. # GO_component GO:0005634 nucleus; IDA:UniProtKB. # GO_component GO:0005654 nucleoplasm; IDA:HPA. # GO_component GO:0005739 mitochondrion; IDA:UniProtKB. # GO_component GO:0005743 mitochondrial inner membrane; TAS:Reactome. # GO_component GO:0005753 mitochondrial proton-transporting ATP synthase complex; IDA:UniProtKB. # GO_component GO:0005759 mitochondrial matrix; NAS:UniProtKB. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0043209 myelin sheath; IEA:Ensembl. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0015078 hydrogen ion transmembrane transporter activity; IEA:InterPro. # GO_function GO:0022857 transmembrane transporter activity; IC:UniProtKB. # GO_process GO:0006754 ATP biosynthetic process; TAS:Reactome. # GO_process GO:0015986 ATP synthesis coupled proton transport; IBA:GO_Central. # GO_process GO:0021762 substantia nigra development; IEP:UniProtKB. # GO_process GO:0042776 mitochondrial ATP synthesis coupled proton transport; IC:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005654 nucleoplasm # GOslim_component GO:0005739 mitochondrion # GOslim_component GO:0043226 organelle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0044281 small molecule metabolic process # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0055085 transmembrane transport # Genevisible P24539 HS # HGNC HGNC:840 ATP5F1 # IntAct P24539 24 # InterPro IPR008688 ATP_synth_Bsub_B/MI25 # InterPro IPR013837 ATP_synth_F0_suB # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Brite ko01000 Enzymes # KEGG_Pathway ko00190 Oxidative phosphorylation # KEGG_Pathway ko05010 Alzheimer's disease # KEGG_Pathway ko05012 Parkinson's disease # KEGG_Pathway ko05016 Huntington's disease # MIM 603270 gene # Organism AT5F1_HUMAN Homo sapiens (Human) # PANTHER PTHR12733 PTHR12733 # PIR JQ1144 JQ1144 # Pfam PF05405 Mt_ATP-synt_B # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-163210 Formation of ATP by chemiosmotic coupling # RecName AT5F1_HUMAN ATP synthase F(0) complex subunit B1, mitochondrial # RefSeq NP_001679 NM_001688.4 # SIMILARITY Belongs to the eukaryotic ATPase B chain family. {ECO 0000305}. # SUBCELLULAR LOCATION AT5F1_HUMAN Mitochondrion. Mitochondrion inner membrane. # SUBUNIT F-type ATPases have 2 components, CF(1) - the catalytic core - and CF(0) - the membrane proton channel. CF(1) has five subunits: alpha(3), beta(3), gamma(1), delta(1), epsilon(1). CF(0) has three main subunits a, b and c. Component of an ATP synthase complex composed of ATP5F1, ATP5G1, ATP5E, ATP5H, ATP5I, ATP5J, ATP5J2, MT-ATP6, MT-ATP8, ATP5A1, ATP5B, ATP5D, ATP5C1, ATP5O, ATP5L, USMG5 and MP68 (By similarity). {ECO:0000250}. # eggNOG ENOG410INNH Eukaryota # eggNOG ENOG4111WYE LUCA BLAST swissprot:AT5F1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:AT5F1_HUMAN BioCyc ZFISH:HS04013-MONOMER http://biocyc.org/getid?id=ZFISH:HS04013-MONOMER COXPRESdb 515 http://coxpresdb.jp/data/gene/515.shtml CleanEx HS_ATP5F1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ATP5F1 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1016/0006-291X(91)90993-H http://dx.doi.org/10.1016/0006-291X(91)90993-H DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1175371 http://dx.doi.org/10.1126/science.1175371 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AL390195 http://www.ebi.ac.uk/ena/data/view/AL390195 EMBL BC005366 http://www.ebi.ac.uk/ena/data/view/BC005366 EMBL BC005960 http://www.ebi.ac.uk/ena/data/view/BC005960 EMBL BC016350 http://www.ebi.ac.uk/ena/data/view/BC016350 EMBL X60221 http://www.ebi.ac.uk/ena/data/view/X60221 Ensembl ENST00000369722 http://www.ensembl.org/id/ENST00000369722 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000276 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000276 GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0005753 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005753 GO_component GO:0005759 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005759 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0043209 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043209 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0015078 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015078 GO_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GO_process GO:0006754 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006754 GO_process GO:0015986 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015986 GO_process GO:0021762 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021762 GO_process GO:0042776 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042776 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards ATP5F1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ATP5F1 GeneID 515 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=515 GeneTree ENSGT00390000001958 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000001958 HGNC HGNC:840 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:840 HOGENOM HOG000007163 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000007163&db=HOGENOM6 HOVERGEN HBG050604 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050604&db=HOVERGEN HPA HPA046067 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA046067 HPA HPA057347 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA057347 InParanoid P24539 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P24539 IntAct P24539 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P24539* InterPro IPR008688 http://www.ebi.ac.uk/interpro/entry/IPR008688 InterPro IPR013837 http://www.ebi.ac.uk/interpro/entry/IPR013837 Jabion 515 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=515 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00002 http://www.genome.jp/dbget-bin/www_bget?ko00002 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Gene hsa:515 http://www.genome.jp/dbget-bin/www_bget?hsa:515 KEGG_Orthology KO:K02127 http://www.genome.jp/dbget-bin/www_bget?KO:K02127 KEGG_Pathway ko00190 http://www.genome.jp/kegg-bin/show_pathway?ko00190 KEGG_Pathway ko05010 http://www.genome.jp/kegg-bin/show_pathway?ko05010 KEGG_Pathway ko05012 http://www.genome.jp/kegg-bin/show_pathway?ko05012 KEGG_Pathway ko05016 http://www.genome.jp/kegg-bin/show_pathway?ko05016 MIM 603270 http://www.ncbi.nlm.nih.gov/omim/603270 MINT MINT-3010280 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-3010280 OMA VINHETF http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=VINHETF OrthoDB EOG091G0DPN http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0DPN PANTHER PTHR12733 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12733 PSORT swissprot:AT5F1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:AT5F1_HUMAN PSORT-B swissprot:AT5F1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:AT5F1_HUMAN PSORT2 swissprot:AT5F1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:AT5F1_HUMAN Pfam PF05405 http://pfam.xfam.org/family/PF05405 PharmGKB PA25130 http://www.pharmgkb.org/do/serve?objId=PA25130&objCls=Gene Phobius swissprot:AT5F1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:AT5F1_HUMAN PhylomeDB P24539 http://phylomedb.org/?seqid=P24539 ProteinModelPortal P24539 http://www.proteinmodelportal.org/query/uniprot/P24539 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 1831354 http://www.ncbi.nlm.nih.gov/pubmed/1831354 PubMed 19608861 http://www.ncbi.nlm.nih.gov/pubmed/19608861 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 Reactome R-HSA-163210 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-163210 RefSeq NP_001679 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001679 SMR P24539 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P24539 STRING 9606.ENSP00000358737 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000358737&targetmode=cogs UniGene Hs.514870 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.514870 UniProtKB AT5F1_HUMAN http://www.uniprot.org/uniprot/AT5F1_HUMAN UniProtKB-AC P24539 http://www.uniprot.org/uniprot/P24539 charge swissprot:AT5F1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:AT5F1_HUMAN eggNOG ENOG410INNH http://eggnogapi.embl.de/nog_data/html/tree/ENOG410INNH eggNOG ENOG4111WYE http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111WYE epestfind swissprot:AT5F1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:AT5F1_HUMAN garnier swissprot:AT5F1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:AT5F1_HUMAN helixturnhelix swissprot:AT5F1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:AT5F1_HUMAN hmoment swissprot:AT5F1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:AT5F1_HUMAN iep swissprot:AT5F1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:AT5F1_HUMAN inforesidue swissprot:AT5F1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:AT5F1_HUMAN neXtProt NX_P24539 http://www.nextprot.org/db/entry/NX_P24539 octanol swissprot:AT5F1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:AT5F1_HUMAN pepcoil swissprot:AT5F1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:AT5F1_HUMAN pepdigest swissprot:AT5F1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:AT5F1_HUMAN pepinfo swissprot:AT5F1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:AT5F1_HUMAN pepnet swissprot:AT5F1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:AT5F1_HUMAN pepstats swissprot:AT5F1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:AT5F1_HUMAN pepwheel swissprot:AT5F1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:AT5F1_HUMAN pepwindow swissprot:AT5F1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:AT5F1_HUMAN sigcleave swissprot:AT5F1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:AT5F1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS GRIA2_HUMAN Event=Alternative splicing; Named isoforms=4; Name=Flop; IsoId=P42262-1; Sequence=Displayed; Name=Flip; IsoId=P42262-2; Sequence=VSP_053350; Name=3; Synonyms=Long; IsoId=P42262-3; Sequence=VSP_029309; Name=4; IsoId=P42262-4; Sequence=VSP_055920, VSP_053350; Note=No experimental confirmation available.; # AltName GRIA2_HUMAN AMPA-selective glutamate receptor 2 # AltName GRIA2_HUMAN GluR-B # AltName GRIA2_HUMAN GluR-K2 # AltName GRIA2_HUMAN Glutamate receptor ionotropic, AMPA 2 # BioGrid 109148 30 # CCDS CCDS3797 -. [P42262-2] # CCDS CCDS43274 -. [P42262-1] # CCDS CCDS43275 -. [P42262-4] # ChiTaRS GRIA2 human # DOMAIN GRIA2_HUMAN The M4 transmembrane segment mediates tetramerization and is required for cell surface expression. # DrugBank DB00237 Butabarbital # DrugBank DB00241 Butalbital # DrugBank DB00306 Talbutal # DrugBank DB00312 Pentobarbital # DrugBank DB00418 Secobarbital # DrugBank DB00599 Thiopental # DrugBank DB00794 Primidone # DrugBank DB00849 Methylphenobarbital # DrugBank DB00898 Ethanol # DrugBank DB01174 Phenobarbital # DrugBank DB01346 Quinidine barbiturate # DrugBank DB01351 Amobarbital # DrugBank DB01352 Aprobarbital # DrugBank DB01353 Butethal # DrugBank DB01354 Heptabarbital # DrugBank DB01355 Hexobarbital # Ensembl ENST00000264426 ENSP00000264426; ENSG00000120251. [P42262-1] # Ensembl ENST00000296526 ENSP00000296526; ENSG00000120251. [P42262-2] # Ensembl ENST00000393815 ENSP00000377403; ENSG00000120251. [P42262-4] # Ensembl ENST00000507898 ENSP00000426845; ENSG00000120251. [P42262-4] # ExpressionAtlas P42262 baseline and differential # FUNCTION GRIA2_HUMAN Receptor for glutamate that functions as ligand-gated ion channel in the central nervous system and plays an important role in excitatory synaptic transmission. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. Binding of the excitatory neurotransmitter L- glutamate induces a conformation change, leading to the opening of the cation channel, and thereby converts the chemical signal to an electrical impulse. The receptor then desensitizes rapidly and enters a transient inactive state, characterized by the presence of bound agonist. In the presence of CACNG4 or CACNG7 or CACNG8, shows resensitization which is characterized by a delayed accumulation of current flux upon continued application of glutamate. {ECO 0000269|PubMed 20614889}. # GO_component GO:0005789 endoplasmic reticulum membrane; IEA:UniProtKB-SubCell. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; ISS:UniProtKB. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0030666 endocytic vesicle membrane; TAS:Reactome. # GO_component GO:0032281 AMPA glutamate receptor complex; ISS:UniProtKB. # GO_component GO:0045211 postsynaptic membrane; IEA:UniProtKB-SubCell. # GO_function GO:0004970 ionotropic glutamate receptor activity; IDA:UniProtKB. # GO_function GO:0004971 AMPA glutamate receptor activity; ISS:UniProtKB. # GO_function GO:0005231 excitatory extracellular ligand-gated ion channel activity; TAS:Reactome. # GO_function GO:0005234 extracellular-glutamate-gated ion channel activity; IEA:InterPro. # GO_process GO:0007165 signal transduction; TAS:ProtInc. # GO_process GO:0007268 chemical synaptic transmission; TAS:ProtInc. # GO_process GO:0035235 ionotropic glutamate receptor signaling pathway; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0007267 cell-cell signaling # Genevisible P42262 HS # HGNC HGNC:4572 GRIA2 # INTERACTION GRIA2_HUMAN P46459 NSF; NbExp=2; IntAct=EBI-3909876, EBI-712251; # IntAct P42262 12 # InterPro IPR001320 Iontro_rcpt # InterPro IPR001508 Iono_rcpt_met # InterPro IPR001828 ANF_lig-bd_rcpt # InterPro IPR019594 Glu/Gly-bd # InterPro IPR028082 Peripla_BP_I # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04080 Neuroactive ligand-receptor interaction # KEGG_Pathway ko04713 Circadian entrainment # KEGG_Pathway ko04720 Long-term potentiation # KEGG_Pathway ko04723 Retrograde endocannabinoid signaling # KEGG_Pathway ko04724 Glutamatergic synapse # KEGG_Pathway ko04728 Dopaminergic synapse # KEGG_Pathway ko04730 Long-term depression # KEGG_Pathway ko05014 Amyotrophic lateral sclerosis (ALS) # KEGG_Pathway ko05030 Cocaine addiction # KEGG_Pathway ko05031 Amphetamine addiction # KEGG_Pathway ko05033 Nicotine addiction # MIM 138247 gene # MISCELLANEOUS GRIA2_HUMAN The postsynaptic actions of Glu are mediated by a variety of receptors that are named according to their selective agonists. This receptor binds AMPA (quisqualate) > glutamate > kainate. # Organism GRIA2_HUMAN Homo sapiens (Human) # PDB 2WJW X-ray; 1.80 A; A=25-412 # PDB 2WJX X-ray; 4.10 A; A/B/C=25-412 # PDB 2XHD X-ray; 1.80 A; A/B=413-527, A/B=653-796 # PDB 3R7X X-ray; 2.10 A; A/B=413-527, A/B=653-796 # PDB 3RN8 X-ray; 1.70 A; A/B/C=413-527, A/B/C=653-812 # PDB 3RNN X-ray; 1.75 A; A/B/C=413-527, A/B/C=653-812 # PDB 3UA8 X-ray; 1.90 A; A=413-527, A=653-796 # PDB 5H8S X-ray; 1.70 A; A/B/C=413-527, A/B/C=653-796 # PIR I58181 I58181 # PRINTS PR00177 NMDARECEPTOR # PTM GRIA2_HUMAN Palmitoylated. Depalmitoylated upon glutamate stimulation. Cys-610 palmitoylation leads to Golgi retention and decreased cell surface expression. In contrast, Cys-836 palmitoylation does not affect cell surface expression but regulates stimulation-dependent endocytosis (By similarity). {ECO 0000250}. # Pfam PF00060 Lig_chan # Pfam PF01094 ANF_receptor # Pfam PF10613 Lig_chan-Glu_bd # Proteomes UP000005640 Chromosome 4 # RNA EDITING Modified_positions=607 {ECO:0000269|PubMed 7523595}; Note=Partially edited. Fully edited in the brain. Heteromerically expressed edited GLUR2 (R) receptor complexes are impermeable to calcium, whereas the unedited (Q) forms are highly permeable to divalent ions.; # Reactome R-HSA-399710 Activation of AMPA receptors # Reactome R-HSA-416993 Trafficking of GluR2-containing AMPA receptors # Reactome R-HSA-438066 Unblocking of NMDA receptor, glutamate binding and activation # RecName GRIA2_HUMAN Glutamate receptor 2 # RefSeq NP_000817 NM_000826.3 # RefSeq NP_001077088 NM_001083619.1 # RefSeq NP_001077089 NM_001083620.1 # RefSeq XP_016863605 XM_017008116.1. [P42262-4] # RefSeq XP_016863606 XM_017008117.1. [P42262-4] # SIMILARITY Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. GRIA2 subfamily. {ECO 0000305}. # SMART SM00079 PBPe # SMART SM00918 Lig_chan-Glu_bd # SUBCELLULAR LOCATION GRIA2_HUMAN Cell membrane {ECO 0000269|PubMed 23739980}; Multi-pass membrane protein {ECO 0000269|PubMed 23739980}. Endoplasmic reticulum membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. Cell junction, synapse, postsynaptic cell membrane {ECO 0000269|PubMed 23739980}; Multi-pass membrane protein {ECO 0000269|PubMed 23739980}. Note=Interaction with CACNG2, CNIH2 and CNIH3 promotes cell surface expression. {ECO 0000250}. # SUBUNIT Homotetramer or heterotetramer of pore-forming glutamate receptor subunits. Tetramers may be formed by the dimerization of dimers. May interact with MPP4. Forms a ternary complex with GRIP1 and CSPG4. Interacts with ATAD1 in an ATP-dependent manner. ATAD1- catalyzed ATP hydrolysis disrupts binding to ATAD1 and to GRIP1 and leads to AMPAR complex disassembly (By similarity). Interacts with PICK1 (via PDZ domain). Interacts with PRKCABP and GRIP2 (By similarity). Interacts with GRIA1 and SYNDIG1 (By similarity). Interacts with LRFN1. Interacts with SNX27 (via PDZ domain); the interaction is required for recycling to the plasma membrane when endocytosed and prevent degradation in lysosomes (By similarity). Found in a complex with GRIA1, GRIA3, GRIA4, CNIH2, CNIH3, CACNG2, CACNG3, CACNG4, CACNG5, CACNG7 and CACNG8. Interacts with CACNG5 (By similarity). Interacts with OLFM2 (By similarity). {ECO:0000250|UniProtKB P23819}. # SUPFAM SSF53822 SSF53822 # TCDB 1.A.10.1.13 the glutamate-gated ion channel (gic) family of neurotransmitter receptors # UCSC uc003ipk human. [P42262-1] # eggNOG ENOG410XPSH LUCA # eggNOG KOG1054 Eukaryota BLAST swissprot:GRIA2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:GRIA2_HUMAN BioCyc ZFISH:ENSG00000120251-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000120251-MONOMER COXPRESdb 2891 http://coxpresdb.jp/data/gene/2891.shtml CleanEx HS_GRIA2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_GRIA2 DIP DIP-42852N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-42852N DOI 10.1016/S0896-6273(03)00722-0 http://dx.doi.org/10.1016/S0896-6273(03)00722-0 DOI 10.1016/j.bmcl.2011.04.017 http://dx.doi.org/10.1016/j.bmcl.2011.04.017 DOI 10.1016/j.jmb.2009.07.082 http://dx.doi.org/10.1016/j.jmb.2009.07.082 DOI 10.1021/jm1005429 http://dx.doi.org/10.1021/jm1005429 DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1074/jbc.M404499200 http://dx.doi.org/10.1074/jbc.M404499200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1523/JNEUROSCI.2626-12.2013 http://dx.doi.org/10.1523/JNEUROSCI.2626-12.2013 DrugBank DB00237 http://www.drugbank.ca/drugs/DB00237 DrugBank DB00241 http://www.drugbank.ca/drugs/DB00241 DrugBank DB00306 http://www.drugbank.ca/drugs/DB00306 DrugBank DB00312 http://www.drugbank.ca/drugs/DB00312 DrugBank DB00418 http://www.drugbank.ca/drugs/DB00418 DrugBank DB00599 http://www.drugbank.ca/drugs/DB00599 DrugBank DB00794 http://www.drugbank.ca/drugs/DB00794 DrugBank DB00849 http://www.drugbank.ca/drugs/DB00849 DrugBank DB00898 http://www.drugbank.ca/drugs/DB00898 DrugBank DB01174 http://www.drugbank.ca/drugs/DB01174 DrugBank DB01346 http://www.drugbank.ca/drugs/DB01346 DrugBank DB01351 http://www.drugbank.ca/drugs/DB01351 DrugBank DB01352 http://www.drugbank.ca/drugs/DB01352 DrugBank DB01353 http://www.drugbank.ca/drugs/DB01353 DrugBank DB01354 http://www.drugbank.ca/drugs/DB01354 DrugBank DB01355 http://www.drugbank.ca/drugs/DB01355 EMBL AC079233 http://www.ebi.ac.uk/ena/data/view/AC079233 EMBL AC112240 http://www.ebi.ac.uk/ena/data/view/AC112240 EMBL BC010574 http://www.ebi.ac.uk/ena/data/view/BC010574 EMBL BC028736 http://www.ebi.ac.uk/ena/data/view/BC028736 EMBL L20814 http://www.ebi.ac.uk/ena/data/view/L20814 Ensembl ENST00000264426 http://www.ensembl.org/id/ENST00000264426 Ensembl ENST00000296526 http://www.ensembl.org/id/ENST00000296526 Ensembl ENST00000393815 http://www.ensembl.org/id/ENST00000393815 Ensembl ENST00000507898 http://www.ensembl.org/id/ENST00000507898 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005789 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005789 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0030666 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030666 GO_component GO:0032281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032281 GO_component GO:0045211 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045211 GO_function GO:0004970 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004970 GO_function GO:0004971 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004971 GO_function GO:0005231 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005231 GO_function GO:0005234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005234 GO_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GO_process GO:0007268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007268 GO_process GO:0035235 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035235 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GeneCards GRIA2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=GRIA2 GeneID 2891 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=2891 GeneTree ENSGT00760000118920 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118920 HGNC HGNC:4572 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:4572 HOGENOM HOG000234372 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000234372&db=HOGENOM6 HOVERGEN HBG051839 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG051839&db=HOVERGEN HPA CAB006830 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB006830 HPA CAB007812 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB007812 HPA CAB012981 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB012981 HPA HPA008441 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA008441 InParanoid P42262 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P42262 IntAct P42262 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P42262* InterPro IPR001320 http://www.ebi.ac.uk/interpro/entry/IPR001320 InterPro IPR001508 http://www.ebi.ac.uk/interpro/entry/IPR001508 InterPro IPR001828 http://www.ebi.ac.uk/interpro/entry/IPR001828 InterPro IPR019594 http://www.ebi.ac.uk/interpro/entry/IPR019594 InterPro IPR028082 http://www.ebi.ac.uk/interpro/entry/IPR028082 Jabion 2891 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=2891 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:2891 http://www.genome.jp/dbget-bin/www_bget?hsa:2891 KEGG_Orthology KO:K05198 http://www.genome.jp/dbget-bin/www_bget?KO:K05198 KEGG_Pathway ko04080 http://www.genome.jp/kegg-bin/show_pathway?ko04080 KEGG_Pathway ko04713 http://www.genome.jp/kegg-bin/show_pathway?ko04713 KEGG_Pathway ko04720 http://www.genome.jp/kegg-bin/show_pathway?ko04720 KEGG_Pathway ko04723 http://www.genome.jp/kegg-bin/show_pathway?ko04723 KEGG_Pathway ko04724 http://www.genome.jp/kegg-bin/show_pathway?ko04724 KEGG_Pathway ko04728 http://www.genome.jp/kegg-bin/show_pathway?ko04728 KEGG_Pathway ko04730 http://www.genome.jp/kegg-bin/show_pathway?ko04730 KEGG_Pathway ko05014 http://www.genome.jp/kegg-bin/show_pathway?ko05014 KEGG_Pathway ko05030 http://www.genome.jp/kegg-bin/show_pathway?ko05030 KEGG_Pathway ko05031 http://www.genome.jp/kegg-bin/show_pathway?ko05031 KEGG_Pathway ko05033 http://www.genome.jp/kegg-bin/show_pathway?ko05033 MIM 138247 http://www.ncbi.nlm.nih.gov/omim/138247 MINT MINT-2791741 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-2791741 OMA IQRWSTL http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=IQRWSTL OrthoDB EOG091G11CB http://cegg.unige.ch/orthodb/results?searchtext=EOG091G11CB PDB 2WJW http://www.ebi.ac.uk/pdbe-srv/view/entry/2WJW PDB 2WJX http://www.ebi.ac.uk/pdbe-srv/view/entry/2WJX PDB 2XHD http://www.ebi.ac.uk/pdbe-srv/view/entry/2XHD PDB 3R7X http://www.ebi.ac.uk/pdbe-srv/view/entry/3R7X PDB 3RN8 http://www.ebi.ac.uk/pdbe-srv/view/entry/3RN8 PDB 3RNN http://www.ebi.ac.uk/pdbe-srv/view/entry/3RNN PDB 3UA8 http://www.ebi.ac.uk/pdbe-srv/view/entry/3UA8 PDB 5H8S http://www.ebi.ac.uk/pdbe-srv/view/entry/5H8S PDBsum 2WJW http://www.ebi.ac.uk/pdbsum/2WJW PDBsum 2WJX http://www.ebi.ac.uk/pdbsum/2WJX PDBsum 2XHD http://www.ebi.ac.uk/pdbsum/2XHD PDBsum 3R7X http://www.ebi.ac.uk/pdbsum/3R7X PDBsum 3RN8 http://www.ebi.ac.uk/pdbsum/3RN8 PDBsum 3RNN http://www.ebi.ac.uk/pdbsum/3RNN PDBsum 3UA8 http://www.ebi.ac.uk/pdbsum/3UA8 PDBsum 5H8S http://www.ebi.ac.uk/pdbsum/5H8S PRINTS PR00177 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00177 PSORT swissprot:GRIA2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:GRIA2_HUMAN PSORT-B swissprot:GRIA2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:GRIA2_HUMAN PSORT2 swissprot:GRIA2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:GRIA2_HUMAN Pfam PF00060 http://pfam.xfam.org/family/PF00060 Pfam PF01094 http://pfam.xfam.org/family/PF01094 Pfam PF10613 http://pfam.xfam.org/family/PF10613 PharmGKB PA28967 http://www.pharmgkb.org/do/serve?objId=PA28967&objCls=Gene Phobius swissprot:GRIA2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:GRIA2_HUMAN PhylomeDB P42262 http://phylomedb.org/?seqid=P42262 ProteinModelPortal P42262 http://www.proteinmodelportal.org/query/uniprot/P42262 PubMed 14687553 http://www.ncbi.nlm.nih.gov/pubmed/14687553 PubMed 15247289 http://www.ncbi.nlm.nih.gov/pubmed/15247289 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 PubMed 19651138 http://www.ncbi.nlm.nih.gov/pubmed/19651138 PubMed 20614889 http://www.ncbi.nlm.nih.gov/pubmed/20614889 PubMed 21531559 http://www.ncbi.nlm.nih.gov/pubmed/21531559 PubMed 23739980 http://www.ncbi.nlm.nih.gov/pubmed/23739980 PubMed 7523595 http://www.ncbi.nlm.nih.gov/pubmed/7523595 PubMed 8003671 http://www.ncbi.nlm.nih.gov/pubmed/8003671 Reactome R-HSA-399710 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-399710 Reactome R-HSA-416993 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-416993 Reactome R-HSA-438066 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-438066 RefSeq NP_000817 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000817 RefSeq NP_001077088 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001077088 RefSeq NP_001077089 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001077089 RefSeq XP_016863605 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016863605 RefSeq XP_016863606 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016863606 SMART SM00079 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00079 SMART SM00918 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00918 SMR P42262 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P42262 STRING 9606.ENSP00000264426 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000264426&targetmode=cogs SUPFAM SSF53822 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF53822 TCDB 1.A.10.1.13 http://www.tcdb.org/search/result.php?tc=1.A.10.1.13 UCSC uc003ipk http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003ipk&org=rat UniGene Hs.32763 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.32763 UniProtKB GRIA2_HUMAN http://www.uniprot.org/uniprot/GRIA2_HUMAN UniProtKB-AC P42262 http://www.uniprot.org/uniprot/P42262 charge swissprot:GRIA2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:GRIA2_HUMAN eggNOG ENOG410XPSH http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XPSH eggNOG KOG1054 http://eggnogapi.embl.de/nog_data/html/tree/KOG1054 epestfind swissprot:GRIA2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:GRIA2_HUMAN garnier swissprot:GRIA2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:GRIA2_HUMAN helixturnhelix swissprot:GRIA2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:GRIA2_HUMAN hmoment swissprot:GRIA2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:GRIA2_HUMAN iep swissprot:GRIA2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:GRIA2_HUMAN inforesidue swissprot:GRIA2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:GRIA2_HUMAN neXtProt NX_P42262 http://www.nextprot.org/db/entry/NX_P42262 octanol swissprot:GRIA2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:GRIA2_HUMAN pepcoil swissprot:GRIA2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:GRIA2_HUMAN pepdigest swissprot:GRIA2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:GRIA2_HUMAN pepinfo swissprot:GRIA2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:GRIA2_HUMAN pepnet swissprot:GRIA2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:GRIA2_HUMAN pepstats swissprot:GRIA2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:GRIA2_HUMAN pepwheel swissprot:GRIA2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:GRIA2_HUMAN pepwindow swissprot:GRIA2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:GRIA2_HUMAN sigcleave swissprot:GRIA2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:GRIA2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS RYR2_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q92736-1; Sequence=Displayed; Name=2; IsoId=Q92736-2; Sequence=VSP_005953; # AltName RYR2_HUMAN Cardiac muscle ryanodine receptor # AltName RYR2_HUMAN Cardiac muscle ryanodine receptor-calcium release channel # AltName RYR2_HUMAN Type 2 ryanodine receptor # BioGrid 112174 25 # CCDS CCDS55691 -. [Q92736-1] # ChiTaRS RYR2 human # DEVELOPMENTAL STAGE Expressed in myometrium during pregnancy. {ECO:0000269|PubMed 9148749}. # DISEASE RYR2_HUMAN Arrhythmogenic right ventricular dysplasia, familial, 2 (ARVD2) [MIM 600996] A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias. {ECO 0000269|PubMed 11159936}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE RYR2_HUMAN Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM 604772] An arrhythmogenic disorder characterized by stress-induced, bidirectional ventricular tachycardia that may degenerate into cardiac arrest and cause sudden death. Patients present with recurrent syncope, seizures, or sudden death after physical activity or emotional stress. {ECO 0000269|PubMed 11157710, ECO 0000269|PubMed 12093772, ECO 0000269|PubMed 12106942, ECO 0000269|PubMed 15046072, ECO 0000269|PubMed 15046073, ECO 0000269|PubMed 15466642, ECO 0000269|PubMed 15544015}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DOMAIN RYR2_HUMAN The calcium release channel activity resides in the C- terminal region while the remaining part of the protein resides in the cytoplasm. {ECO 0000305}. # Ensembl ENST00000366574 ENSP00000355533; ENSG00000198626. [Q92736-1] # ExpressionAtlas Q92736 baseline and differential # FUNCTION RYR2_HUMAN Calcium channel that mediates the release of Ca(2+) from the sarcoplasmic reticulum into the cytoplasm and thereby plays a key role in triggering cardiac muscle contraction. Aberrant channel activation can lead to cardiac arrhythmia. In cardiac myocytes, calcium release is triggered by increased Ca(2+) levels due to activation of the L-type calcium channel CACNA1C. The calcium channel activity is modulated by formation of heterotetramers with RYR3. Required for cellular calcium ion homeostasis. Required for embryonic heart development. {ECO 0000269|PubMed 10830164, ECO 0000269|PubMed 20056922}. # GO_component GO:0005790 smooth endoplasmic reticulum; IBA:GO_Central. # GO_component GO:0005886 plasma membrane; ISS:BHF-UCL. # GO_component GO:0014701 junctional sarcoplasmic reticulum membrane; TAS:BHF-UCL. # GO_component GO:0016020 membrane; IDA:BHF-UCL. # GO_component GO:0016529 sarcoplasmic reticulum; IDA:BHF-UCL. # GO_component GO:0030018 Z disc; IDA:BHF-UCL. # GO_component GO:0033017 sarcoplasmic reticulum membrane; ISS:BHF-UCL. # GO_component GO:0034704 calcium channel complex; IDA:BHF-UCL. # GO_component GO:0042383 sarcolemma; IBA:GO_Central. # GO_component GO:0043234 protein complex; IDA:MGI. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0005219 ryanodine-sensitive calcium-release channel activity; IDA:BHF-UCL. # GO_function GO:0005262 calcium channel activity; ISS:UniProtKB. # GO_function GO:0005509 calcium ion binding; IBA:GO_Central. # GO_function GO:0005516 calmodulin binding; IMP:BHF-UCL. # GO_function GO:0015278 calcium-release channel activity; ISS:UniProtKB. # GO_function GO:0019899 enzyme binding; IPI:BHF-UCL. # GO_function GO:0034236 protein kinase A catalytic subunit binding; IDA:BHF-UCL. # GO_function GO:0034237 protein kinase A regulatory subunit binding; IDA:BHF-UCL. # GO_function GO:0042802 identical protein binding; IPI:BHF-UCL. # GO_function GO:0043924 suramin binding; IMP:BHF-UCL. # GO_function GO:0044325 ion channel binding; ISS:BHF-UCL. # GO_function GO:0048763 calcium-induced calcium release activity; IDA:BHF-UCL. # GO_process GO:0001666 response to hypoxia; ISS:BHF-UCL. # GO_process GO:0002027 regulation of heart rate; IMP:BHF-UCL. # GO_process GO:0003143 embryonic heart tube morphogenesis; ISS:UniProtKB. # GO_process GO:0003220 left ventricular cardiac muscle tissue morphogenesis; ISS:BHF-UCL. # GO_process GO:0003300 cardiac muscle hypertrophy; ISS:BHF-UCL. # GO_process GO:0005513 detection of calcium ion; IDA:BHF-UCL. # GO_process GO:0006816 calcium ion transport; IDA:BHF-UCL. # GO_process GO:0006874 cellular calcium ion homeostasis; ISS:UniProtKB. # GO_process GO:0010460 positive regulation of heart rate; ISS:BHF-UCL. # GO_process GO:0010881 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion; ISS:BHF-UCL. # GO_process GO:0010882 regulation of cardiac muscle contraction by calcium ion signaling; IMP:BHF-UCL. # GO_process GO:0014808 release of sequestered calcium ion into cytosol by sarcoplasmic reticulum; IMP:BHF-UCL. # GO_process GO:0014850 response to muscle activity; IMP:BHF-UCL. # GO_process GO:0019722 calcium-mediated signaling; ISS:UniProtKB. # GO_process GO:0030509 BMP signaling pathway; IEA:Ensembl. # GO_process GO:0031000 response to caffeine; IDA:BHF-UCL. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0035584 calcium-mediated signaling using intracellular calcium source; IDA:BHF-UCL. # GO_process GO:0035994 response to muscle stretch; IMP:BHF-UCL. # GO_process GO:0051209 release of sequestered calcium ion into cytosol; IDA:BHF-UCL. # GO_process GO:0051284 positive regulation of sequestering of calcium ion; IDA:BHF-UCL. # GO_process GO:0051480 regulation of cytosolic calcium ion concentration; ISS:BHF-UCL. # GO_process GO:0051775 response to redox state; IDA:BHF-UCL. # GO_process GO:0055117 regulation of cardiac muscle contraction; IMP:BHF-UCL. # GO_process GO:0060048 cardiac muscle contraction; IMP:BHF-UCL. # GO_process GO:0060070 canonical Wnt signaling pathway; IEA:Ensembl. # GO_process GO:0060402 calcium ion transport into cytosol; IDA:BHF-UCL. # GO_process GO:0070296 sarcoplasmic reticulum calcium ion transport; TAS:BHF-UCL. # GO_process GO:0071313 cellular response to caffeine; ISS:UniProtKB. # GO_process GO:0071872 cellular response to epinephrine stimulus; ISS:BHF-UCL. # GO_process GO:0072599 establishment of protein localization to endoplasmic reticulum; IDA:BHF-UCL. # GO_process GO:0086005 ventricular cardiac muscle cell action potential; ISS:BHF-UCL. # GO_process GO:0086029 Purkinje myocyte to ventricular cardiac muscle cell signaling; ISS:BHF-UCL. # GO_process GO:0086064 cell communication by electrical coupling involved in cardiac conduction; IC:BHF-UCL. # GO_process GO:0097050 type B pancreatic cell apoptotic process; IMP:BHF-UCL. # GO_process GO:0098735 positive regulation of the force of heart contraction; IMP:BHF-UCL. # GO_process GO:0098904 regulation of AV node cell action potential; IMP:BHF-UCL. # GO_process GO:0098907 regulation of SA node cell action potential; IMP:BHF-UCL. # GO_process GO:0098910 regulation of atrial cardiac muscle cell action potential; IMP:BHF-UCL. # GO_process GO:0098911 regulation of ventricular cardiac muscle cell action potential; IMP:BHF-UCL. # GO_process GO:1901896 positive regulation of calcium-transporting ATPase activity; IDA:BHF-UCL. # GO_process GO:1903779 regulation of cardiac conduction; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0019899 enzyme binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # GOslim_process GO:0008219 cell death # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.10.238.10 -; 1. # Gene3D 1.25.10.30 -; 1. # Genevisible Q92736 HS # HGNC HGNC:10484 RYR2 # INDUCTION By TGFB1. {ECO:0000269|PubMed 9148749}. # INTERACTION RYR2_HUMAN P62942 FKBP1A; NbExp=2; IntAct=EBI-1170425, EBI-1027571; P68106 FKBP1B; NbExp=5; IntAct=EBI-1170425, EBI-6693977; Q00987 MDM2; NbExp=2; IntAct=EBI-1170425, EBI-389668; # IntAct Q92736 10 # InterPro IPR000699 RIH_dom # InterPro IPR001870 B30.2/SPRY # InterPro IPR002048 EF_hand_dom # InterPro IPR003032 Ryanodine_rcpt # InterPro IPR003877 SPRY_dom # InterPro IPR005821 Ion_trans_dom # InterPro IPR009460 Ryanrecept_TM4-6 # InterPro IPR011992 EF-hand-dom_pair # InterPro IPR013320 ConA-like_dom # InterPro IPR013333 Ryan_recept # InterPro IPR013662 RIH_assoc-dom # InterPro IPR014821 Ins145_P3_rcpt # InterPro IPR015925 Ryanodine_recept-rel # InterPro IPR016093 MIR_motif # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02000 Transporters # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00293 [Cardiovascular disease] Arrhythmogenic right ventricular cardiomyopathy (ARVC) # KEGG_Disease H01019 [Cardiovascular disease] Catecholaminergic polymorphic ventricular tachycardia # KEGG_Pathway ko04020 Calcium signaling pathway # KEGG_Pathway ko04260 Cardiac muscle contraction # KEGG_Pathway ko04713 Circadian entrainment # KEGG_Pathway ko04972 Pancreatic secretion # KEGG_Pathway ko05410 Hypertrophic cardiomyopathy (HCM) # KEGG_Pathway ko05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC) # KEGG_Pathway ko05414 Dilated cardiomyopathy # MIM 180902 gene # MIM 600996 phenotype # MIM 604772 phenotype # MISCELLANEOUS Channel activity is modulated by the alkaloid ryanodine that binds to the open Ca-release channel with high affinity. At low concentrations, ryanodine maintains the channel in an open conformation. High ryanodine concentrations inhibit channel activity. Channel activity is regulated by calmodulin (CALM). The calcium release is activated by increased cytoplasmic calcium levels, by nitric oxyde (NO), caffeine and ATP. Channel activity is inhibited by magnesium ions, possibly by competition for calcium binding sites (By similarity). {ECO 0000250}. # Organism RYR2_HUMAN Homo sapiens (Human) # Orphanet 293888 Familial isolated arrhythmogenic ventricular dysplasia, left dominant form # Orphanet 293899 Familial isolated arrhythmogenic ventricular dysplasia, biventricular form # Orphanet 293910 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form # Orphanet 3286 Catecholaminergic polymorphic ventricular tachycardia # PANTHER PTHR13715 PTHR13715; 5 # PDB 4JKQ X-ray; 2.39 A; A=1-606 # PIR S72269 S72269 # PRINTS PR00795 RYANODINER # PROSITE PS50188 B302_SPRY; 3 # PROSITE PS50919 MIR; 5 # PTM RYR2_HUMAN Channel activity is modulated by phosphorylation. Phosphorylation at Ser-2808 and Ser-2814 increases the open probability of the calcium channel. Phosphorylation is increased in failing heart, leading to calcium leaks and increased cytoplasmic Ca(2+) levels. {ECO 0000269|PubMed 10830164, ECO 0000269|PubMed 20056922}. # PTM RYR2_HUMAN Phosphorylation at Ser-2031 by PKA enhances the response to lumenal calcium. {ECO 0000250}. # Pfam PF00520 Ion_trans # Pfam PF00622 SPRY; 3 # Pfam PF01365 RYDR_ITPR; 2 # Pfam PF02026 RyR; 4 # Pfam PF02815 MIR # Pfam PF06459 RR_TM4-6 # Pfam PF08454 RIH_assoc # Pfam PF08709 Ins145_P3_rec # Pfam PF13833 EF-hand_8 # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-2672351 Stimuli-sensing channels # Reactome R-HSA-5578775 Ion homeostasis # RecName RYR2_HUMAN Ryanodine receptor 2 # RefSeq NP_001026 NM_001035.2. [Q92736-1] # RefSeq XP_006711868 XM_006711805.3. [Q92736-2] # SEQUENCE CAUTION RYR2_HUMAN Sequence=CAH71369.1; Type=Miscellaneous discrepancy; Note=Erroneous gene model prediction.; Evidence={ECO 0000305}; Sequence=CAH71393.1; Type=Miscellaneous discrepancy; Note=Erroneous gene model prediction.; Evidence={ECO 0000305}; Sequence=CAH73918.1; Type=Miscellaneous discrepancy; Note=Erroneous gene model prediction.; Evidence={ECO 0000305}; Sequence=CAI14440.1; Type=Miscellaneous discrepancy; Note=Erroneous gene model prediction.; Evidence={ECO 0000305}; Sequence=CAI15350.1; Type=Miscellaneous discrepancy; Note=Erroneous gene model prediction.; Evidence={ECO 0000305}; Sequence=CAI15936.1; Type=Miscellaneous discrepancy; Note=Erroneous gene model prediction.; Evidence={ECO 0000305}; Sequence=CAI22065.1; Type=Miscellaneous discrepancy; Note=Erroneous gene model prediction.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the ryanodine receptor (TC 1.A.3.1) family. RYR2 subfamily. {ECO 0000305}. # SIMILARITY Contains 3 B30.2/SPRY domains. {ECO:0000255|PROSITE- ProRule PRU00548}. # SIMILARITY Contains 5 MIR domains. {ECO:0000255|PROSITE- ProRule PRU00131}. # SMART SM00449 SPRY; 3 # SMART SM00472 MIR; 4 # SUBCELLULAR LOCATION RYR2_HUMAN Sarcoplasmic reticulum membrane {ECO 0000269|PubMed 10830164}; Multi-pass membrane protein {ECO 0000269|PubMed 10830164}. Membrane {ECO 0000305|PubMed 10830164}; Multi-pass membrane protein {ECO 0000305|PubMed 10830164}. Sarcoplasmic reticulum {ECO 0000250|UniProtKB P30957}. Note=The number of predicted transmembrane domains varies between orthologs, but both N- terminus and C-terminus seem to be cytoplasmic. {ECO 0000250}. # SUBUNIT RYR2_HUMAN Homotetramer. Can also form heterotetramers with RYR1 and RYR3 (By similarity). Interacts with FKBP1A and FKBP1B; these interactions may stabilize the channel in its closed state and prevent Ca(2+) leaks. Interacts with CALM and S100A1; these interactions regulate channel activity. Identified in a complex composed of RYR2, FKBP1B, PKA catalytic subunit, PRKAR2A, AKAP6, and the protein phosphatases PP2A and PP1. Interacts directly with FKBP1B, PKA, PP1 and PP2A. Interacts with SEPN1 (By similarity). {ECO 0000250|UniProtKB P30957, ECO 0000269|PubMed 10830164, ECO 0000269|PubMed 18650434}. # SUPFAM SSF100909 SSF100909; 2 # SUPFAM SSF47473 SSF47473 # SUPFAM SSF49899 SSF49899; 2 # SUPFAM SSF82109 SSF82109; 2 # TCDB 1.A.3.1 the ryanodine-inositol 1,4,5-triphosphate receptor ca(2+) channel (rir-cac) family # TISSUE SPECIFICITY RYR2_HUMAN Detected in heart muscle (at protein level). Heart muscle, brain (cerebellum and hippocampus) and placenta. {ECO 0000269|PubMed 10830164, ECO 0000269|PubMed 9607712}. # UCSC uc001hyl human. [Q92736-1] # WEB RESOURCE RYR2_HUMAN Name=Wikipedia; Note=RYR2 entry; URL="http //en.wikipedia.org/wiki/RYR2"; # WEB RESOURCE RYR2_HUMAN Name=Wikipedia; Note=Ryanodine receptor entry; URL="https //en.wikipedia.org/wiki/Ryanodine_receptor"; # eggNOG ENOG410YCNW LUCA # eggNOG KOG2243 Eukaryota BLAST swissprot:RYR2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:RYR2_HUMAN BioCyc ZFISH:G66-32043-MONOMER http://biocyc.org/getid?id=ZFISH:G66-32043-MONOMER COXPRESdb 6262 http://coxpresdb.jp/data/gene/6262.shtml CleanEx HS_RYR2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_RYR2 DIP DIP-38325N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-38325N DOI 10.1016/S0092-8674(00)80847-8 http://dx.doi.org/10.1016/S0092-8674(00)80847-8 DOI 10.1016/S0306-4522(97)00612-X http://dx.doi.org/10.1016/S0306-4522(97)00612-X DOI 10.1016/S0735-1097(02)01946-0 http://dx.doi.org/10.1016/S0735-1097(02)01946-0 DOI 10.1016/j.ijcard.2014.11.119 http://dx.doi.org/10.1016/j.ijcard.2014.11.119 DOI 10.1038/415198a http://dx.doi.org/10.1038/415198a DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1038/sj.ejhg.5201061 http://dx.doi.org/10.1038/sj.ejhg.5201061 DOI 10.1042/bj3180477 http://dx.doi.org/10.1042/bj3180477 DOI 10.1042/bj3220777 http://dx.doi.org/10.1042/bj3220777 DOI 10.1073/pnas.0706573104 http://dx.doi.org/10.1073/pnas.0706573104 DOI 10.1074/jbc.M804432200 http://dx.doi.org/10.1074/jbc.M804432200 DOI 10.1093/hmg/10.3.189 http://dx.doi.org/10.1093/hmg/10.3.189 DOI 10.1101/cshperspect.a003996 http://dx.doi.org/10.1101/cshperspect.a003996 DOI 10.1161/01.CIR.0000020013.73106.D8 http://dx.doi.org/10.1161/01.CIR.0000020013.73106.D8 DOI 10.1161/01.CIR.0000144471.98080.CA http://dx.doi.org/10.1161/01.CIR.0000144471.98080.CA DOI 10.1161/01.CIR.103.2.196 http://dx.doi.org/10.1161/01.CIR.103.2.196 DOI 10.1161/01.CIR.103.4.485 http://dx.doi.org/10.1161/01.CIR.103.4.485 DOI 10.1161/CIRCRESAHA.109.203836 http://dx.doi.org/10.1161/CIRCRESAHA.109.203836 DOI 10.1371/journal.pone.0139058 http://dx.doi.org/10.1371/journal.pone.0139058 DOI 10.2741/3591 http://dx.doi.org/10.2741/3591 DOI 10.3892/mmr_00000240 http://dx.doi.org/10.3892/mmr_00000240 DOI 10.4065/79.11.1380 http://dx.doi.org/10.4065/79.11.1380 EMBL AJ002511 http://www.ebi.ac.uk/ena/data/view/AJ002511 EMBL AJ300340 http://www.ebi.ac.uk/ena/data/view/AJ300340 EMBL AJ300341 http://www.ebi.ac.uk/ena/data/view/AJ300341 EMBL AJ300342 http://www.ebi.ac.uk/ena/data/view/AJ300342 EMBL AJ300343 http://www.ebi.ac.uk/ena/data/view/AJ300343 EMBL AJ300344 http://www.ebi.ac.uk/ena/data/view/AJ300344 EMBL AJ300345 http://www.ebi.ac.uk/ena/data/view/AJ300345 EMBL AJ300346 http://www.ebi.ac.uk/ena/data/view/AJ300346 EMBL AJ300347 http://www.ebi.ac.uk/ena/data/view/AJ300347 EMBL AJ300348 http://www.ebi.ac.uk/ena/data/view/AJ300348 EMBL AJ300349 http://www.ebi.ac.uk/ena/data/view/AJ300349 EMBL AJ300350 http://www.ebi.ac.uk/ena/data/view/AJ300350 EMBL AJ300351 http://www.ebi.ac.uk/ena/data/view/AJ300351 EMBL AJ300352 http://www.ebi.ac.uk/ena/data/view/AJ300352 EMBL AJ300353 http://www.ebi.ac.uk/ena/data/view/AJ300353 EMBL AJ300354 http://www.ebi.ac.uk/ena/data/view/AJ300354 EMBL AJ300355 http://www.ebi.ac.uk/ena/data/view/AJ300355 EMBL AJ300356 http://www.ebi.ac.uk/ena/data/view/AJ300356 EMBL AJ300357 http://www.ebi.ac.uk/ena/data/view/AJ300357 EMBL AJ300358 http://www.ebi.ac.uk/ena/data/view/AJ300358 EMBL AJ300359 http://www.ebi.ac.uk/ena/data/view/AJ300359 EMBL AJ300360 http://www.ebi.ac.uk/ena/data/view/AJ300360 EMBL AJ300361 http://www.ebi.ac.uk/ena/data/view/AJ300361 EMBL AJ300362 http://www.ebi.ac.uk/ena/data/view/AJ300362 EMBL AJ300363 http://www.ebi.ac.uk/ena/data/view/AJ300363 EMBL AJ300364 http://www.ebi.ac.uk/ena/data/view/AJ300364 EMBL AJ300365 http://www.ebi.ac.uk/ena/data/view/AJ300365 EMBL AJ300366 http://www.ebi.ac.uk/ena/data/view/AJ300366 EMBL AJ300367 http://www.ebi.ac.uk/ena/data/view/AJ300367 EMBL AJ300368 http://www.ebi.ac.uk/ena/data/view/AJ300368 EMBL AJ300369 http://www.ebi.ac.uk/ena/data/view/AJ300369 EMBL AJ300370 http://www.ebi.ac.uk/ena/data/view/AJ300370 EMBL AJ300371 http://www.ebi.ac.uk/ena/data/view/AJ300371 EMBL AJ300372 http://www.ebi.ac.uk/ena/data/view/AJ300372 EMBL AJ300373 http://www.ebi.ac.uk/ena/data/view/AJ300373 EMBL AJ300374 http://www.ebi.ac.uk/ena/data/view/AJ300374 EMBL AJ300375 http://www.ebi.ac.uk/ena/data/view/AJ300375 EMBL AJ300376 http://www.ebi.ac.uk/ena/data/view/AJ300376 EMBL AJ300377 http://www.ebi.ac.uk/ena/data/view/AJ300377 EMBL AJ300378 http://www.ebi.ac.uk/ena/data/view/AJ300378 EMBL AJ300379 http://www.ebi.ac.uk/ena/data/view/AJ300379 EMBL AJ300380 http://www.ebi.ac.uk/ena/data/view/AJ300380 EMBL AJ300381 http://www.ebi.ac.uk/ena/data/view/AJ300381 EMBL AJ300382 http://www.ebi.ac.uk/ena/data/view/AJ300382 EMBL AJ300383 http://www.ebi.ac.uk/ena/data/view/AJ300383 EMBL AJ300384 http://www.ebi.ac.uk/ena/data/view/AJ300384 EMBL AJ300385 http://www.ebi.ac.uk/ena/data/view/AJ300385 EMBL AJ300386 http://www.ebi.ac.uk/ena/data/view/AJ300386 EMBL AJ300387 http://www.ebi.ac.uk/ena/data/view/AJ300387 EMBL AJ300388 http://www.ebi.ac.uk/ena/data/view/AJ300388 EMBL AJ300389 http://www.ebi.ac.uk/ena/data/view/AJ300389 EMBL AJ300390 http://www.ebi.ac.uk/ena/data/view/AJ300390 EMBL AJ300391 http://www.ebi.ac.uk/ena/data/view/AJ300391 EMBL AJ300392 http://www.ebi.ac.uk/ena/data/view/AJ300392 EMBL AJ300393 http://www.ebi.ac.uk/ena/data/view/AJ300393 EMBL AJ300394 http://www.ebi.ac.uk/ena/data/view/AJ300394 EMBL AJ300395 http://www.ebi.ac.uk/ena/data/view/AJ300395 EMBL AJ300396 http://www.ebi.ac.uk/ena/data/view/AJ300396 EMBL AJ300397 http://www.ebi.ac.uk/ena/data/view/AJ300397 EMBL AJ300398 http://www.ebi.ac.uk/ena/data/view/AJ300398 EMBL AJ300399 http://www.ebi.ac.uk/ena/data/view/AJ300399 EMBL AJ300400 http://www.ebi.ac.uk/ena/data/view/AJ300400 EMBL AJ300401 http://www.ebi.ac.uk/ena/data/view/AJ300401 EMBL AJ300402 http://www.ebi.ac.uk/ena/data/view/AJ300402 EMBL AJ300403 http://www.ebi.ac.uk/ena/data/view/AJ300403 EMBL AJ300404 http://www.ebi.ac.uk/ena/data/view/AJ300404 EMBL AJ300405 http://www.ebi.ac.uk/ena/data/view/AJ300405 EMBL AJ300406 http://www.ebi.ac.uk/ena/data/view/AJ300406 EMBL AJ300407 http://www.ebi.ac.uk/ena/data/view/AJ300407 EMBL AJ300408 http://www.ebi.ac.uk/ena/data/view/AJ300408 EMBL AJ300409 http://www.ebi.ac.uk/ena/data/view/AJ300409 EMBL AJ300410 http://www.ebi.ac.uk/ena/data/view/AJ300410 EMBL AJ300411 http://www.ebi.ac.uk/ena/data/view/AJ300411 EMBL AJ300412 http://www.ebi.ac.uk/ena/data/view/AJ300412 EMBL AJ300413 http://www.ebi.ac.uk/ena/data/view/AJ300413 EMBL AJ300414 http://www.ebi.ac.uk/ena/data/view/AJ300414 EMBL AJ300415 http://www.ebi.ac.uk/ena/data/view/AJ300415 EMBL AJ300416 http://www.ebi.ac.uk/ena/data/view/AJ300416 EMBL AJ300417 http://www.ebi.ac.uk/ena/data/view/AJ300417 EMBL AJ300418 http://www.ebi.ac.uk/ena/data/view/AJ300418 EMBL AJ300419 http://www.ebi.ac.uk/ena/data/view/AJ300419 EMBL AJ300420 http://www.ebi.ac.uk/ena/data/view/AJ300420 EMBL AJ300421 http://www.ebi.ac.uk/ena/data/view/AJ300421 EMBL AJ300422 http://www.ebi.ac.uk/ena/data/view/AJ300422 EMBL AJ300423 http://www.ebi.ac.uk/ena/data/view/AJ300423 EMBL AJ300424 http://www.ebi.ac.uk/ena/data/view/AJ300424 EMBL AJ300425 http://www.ebi.ac.uk/ena/data/view/AJ300425 EMBL AJ300426 http://www.ebi.ac.uk/ena/data/view/AJ300426 EMBL AJ300427 http://www.ebi.ac.uk/ena/data/view/AJ300427 EMBL AJ300428 http://www.ebi.ac.uk/ena/data/view/AJ300428 EMBL AJ300429 http://www.ebi.ac.uk/ena/data/view/AJ300429 EMBL AJ300430 http://www.ebi.ac.uk/ena/data/view/AJ300430 EMBL AJ300431 http://www.ebi.ac.uk/ena/data/view/AJ300431 EMBL AJ300432 http://www.ebi.ac.uk/ena/data/view/AJ300432 EMBL AJ300433 http://www.ebi.ac.uk/ena/data/view/AJ300433 EMBL AJ300434 http://www.ebi.ac.uk/ena/data/view/AJ300434 EMBL AJ300435 http://www.ebi.ac.uk/ena/data/view/AJ300435 EMBL AJ300436 http://www.ebi.ac.uk/ena/data/view/AJ300436 EMBL AJ300437 http://www.ebi.ac.uk/ena/data/view/AJ300437 EMBL AJ300438 http://www.ebi.ac.uk/ena/data/view/AJ300438 EMBL AJ300439 http://www.ebi.ac.uk/ena/data/view/AJ300439 EMBL AJ300440 http://www.ebi.ac.uk/ena/data/view/AJ300440 EMBL AJ300441 http://www.ebi.ac.uk/ena/data/view/AJ300441 EMBL AJ300442 http://www.ebi.ac.uk/ena/data/view/AJ300442 EMBL AJ300443 http://www.ebi.ac.uk/ena/data/view/AJ300443 EMBL AJ300444 http://www.ebi.ac.uk/ena/data/view/AJ300444 EMBL AL356773 http://www.ebi.ac.uk/ena/data/view/AL356773 EMBL AL356773 http://www.ebi.ac.uk/ena/data/view/AL356773 EMBL AL356773 http://www.ebi.ac.uk/ena/data/view/AL356773 EMBL AL356773 http://www.ebi.ac.uk/ena/data/view/AL356773 EMBL AL356773 http://www.ebi.ac.uk/ena/data/view/AL356773 EMBL AL356773 http://www.ebi.ac.uk/ena/data/view/AL356773 EMBL AL356773 http://www.ebi.ac.uk/ena/data/view/AL356773 EMBL AL359924 http://www.ebi.ac.uk/ena/data/view/AL359924 EMBL AL359924 http://www.ebi.ac.uk/ena/data/view/AL359924 EMBL AL359924 http://www.ebi.ac.uk/ena/data/view/AL359924 EMBL AL359924 http://www.ebi.ac.uk/ena/data/view/AL359924 EMBL AL359924 http://www.ebi.ac.uk/ena/data/view/AL359924 EMBL AL359924 http://www.ebi.ac.uk/ena/data/view/AL359924 EMBL AL359924 http://www.ebi.ac.uk/ena/data/view/AL359924 EMBL AL365332 http://www.ebi.ac.uk/ena/data/view/AL365332 EMBL AL365332 http://www.ebi.ac.uk/ena/data/view/AL365332 EMBL AL365332 http://www.ebi.ac.uk/ena/data/view/AL365332 EMBL AL365332 http://www.ebi.ac.uk/ena/data/view/AL365332 EMBL AL365332 http://www.ebi.ac.uk/ena/data/view/AL365332 EMBL AL365332 http://www.ebi.ac.uk/ena/data/view/AL365332 EMBL AL365332 http://www.ebi.ac.uk/ena/data/view/AL365332 EMBL AL391809 http://www.ebi.ac.uk/ena/data/view/AL391809 EMBL AL391809 http://www.ebi.ac.uk/ena/data/view/AL391809 EMBL AL391809 http://www.ebi.ac.uk/ena/data/view/AL391809 EMBL AL391809 http://www.ebi.ac.uk/ena/data/view/AL391809 EMBL AL391809 http://www.ebi.ac.uk/ena/data/view/AL391809 EMBL AL391809 http://www.ebi.ac.uk/ena/data/view/AL391809 EMBL AL391809 http://www.ebi.ac.uk/ena/data/view/AL391809 EMBL AL442065 http://www.ebi.ac.uk/ena/data/view/AL442065 EMBL AL442065 http://www.ebi.ac.uk/ena/data/view/AL442065 EMBL AL442065 http://www.ebi.ac.uk/ena/data/view/AL442065 EMBL AL442065 http://www.ebi.ac.uk/ena/data/view/AL442065 EMBL AL442065 http://www.ebi.ac.uk/ena/data/view/AL442065 EMBL AL442065 http://www.ebi.ac.uk/ena/data/view/AL442065 EMBL AL442065 http://www.ebi.ac.uk/ena/data/view/AL442065 EMBL AL445473 http://www.ebi.ac.uk/ena/data/view/AL445473 EMBL AL445473 http://www.ebi.ac.uk/ena/data/view/AL445473 EMBL AL445473 http://www.ebi.ac.uk/ena/data/view/AL445473 EMBL AL445473 http://www.ebi.ac.uk/ena/data/view/AL445473 EMBL AL445473 http://www.ebi.ac.uk/ena/data/view/AL445473 EMBL AL445473 http://www.ebi.ac.uk/ena/data/view/AL445473 EMBL AL445473 http://www.ebi.ac.uk/ena/data/view/AL445473 EMBL AL513130 http://www.ebi.ac.uk/ena/data/view/AL513130 EMBL AL513130 http://www.ebi.ac.uk/ena/data/view/AL513130 EMBL AL513130 http://www.ebi.ac.uk/ena/data/view/AL513130 EMBL AL513130 http://www.ebi.ac.uk/ena/data/view/AL513130 EMBL AL513130 http://www.ebi.ac.uk/ena/data/view/AL513130 EMBL AL513130 http://www.ebi.ac.uk/ena/data/view/AL513130 EMBL AL513130 http://www.ebi.ac.uk/ena/data/view/AL513130 EMBL X91869 http://www.ebi.ac.uk/ena/data/view/X91869 EMBL X98330 http://www.ebi.ac.uk/ena/data/view/X98330 EMBL Y08218 http://www.ebi.ac.uk/ena/data/view/Y08218 Ensembl ENST00000366574 http://www.ensembl.org/id/ENST00000366574 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005790 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005790 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0014701 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014701 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016529 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016529 GO_component GO:0030018 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030018 GO_component GO:0033017 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033017 GO_component GO:0034704 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034704 GO_component GO:0042383 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042383 GO_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0005219 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005219 GO_function GO:0005262 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005262 GO_function GO:0005509 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005509 GO_function GO:0005516 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005516 GO_function GO:0015278 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015278 GO_function GO:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GO_function GO:0034236 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034236 GO_function GO:0034237 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034237 GO_function GO:0042802 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042802 GO_function GO:0043924 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043924 GO_function GO:0044325 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044325 GO_function GO:0048763 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048763 GO_process GO:0001666 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001666 GO_process GO:0002027 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002027 GO_process GO:0003143 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003143 GO_process GO:0003220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003220 GO_process GO:0003300 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003300 GO_process GO:0005513 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005513 GO_process GO:0006816 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006816 GO_process GO:0006874 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006874 GO_process GO:0010460 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010460 GO_process GO:0010881 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010881 GO_process GO:0010882 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010882 GO_process GO:0014808 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014808 GO_process GO:0014850 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014850 GO_process GO:0019722 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019722 GO_process GO:0030509 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030509 GO_process GO:0031000 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031000 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0035584 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035584 GO_process GO:0035994 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035994 GO_process GO:0051209 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051209 GO_process GO:0051284 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051284 GO_process GO:0051480 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051480 GO_process GO:0051775 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051775 GO_process GO:0055117 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055117 GO_process GO:0060048 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060048 GO_process GO:0060070 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060070 GO_process GO:0060402 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060402 GO_process GO:0070296 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070296 GO_process GO:0071313 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071313 GO_process GO:0071872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071872 GO_process GO:0072599 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0072599 GO_process GO:0086005 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086005 GO_process GO:0086029 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086029 GO_process GO:0086064 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086064 GO_process GO:0097050 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097050 GO_process GO:0098735 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0098735 GO_process GO:0098904 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0098904 GO_process GO:0098907 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0098907 GO_process GO:0098910 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0098910 GO_process GO:0098911 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0098911 GO_process GO:1901896 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1901896 GO_process GO:1903779 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903779 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0008219 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008219 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.10.238.10 http://www.cathdb.info/version/latest/superfamily/1.10.238.10 Gene3D 1.25.10.30 http://www.cathdb.info/version/latest/superfamily/1.25.10.30 GeneCards RYR2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=RYR2 GeneID 6262 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6262 GeneTree ENSGT00760000119152 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119152 HGNC HGNC:10484 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10484 HOGENOM HOG000231428 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231428&db=HOGENOM6 HOVERGEN HBG006699 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG006699&db=HOVERGEN HPA HPA020028 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA020028 InParanoid Q92736 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q92736 IntAct Q92736 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q92736* InterPro IPR000699 http://www.ebi.ac.uk/interpro/entry/IPR000699 InterPro IPR001870 http://www.ebi.ac.uk/interpro/entry/IPR001870 InterPro IPR002048 http://www.ebi.ac.uk/interpro/entry/IPR002048 InterPro IPR003032 http://www.ebi.ac.uk/interpro/entry/IPR003032 InterPro IPR003877 http://www.ebi.ac.uk/interpro/entry/IPR003877 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR009460 http://www.ebi.ac.uk/interpro/entry/IPR009460 InterPro IPR011992 http://www.ebi.ac.uk/interpro/entry/IPR011992 InterPro IPR013320 http://www.ebi.ac.uk/interpro/entry/IPR013320 InterPro IPR013333 http://www.ebi.ac.uk/interpro/entry/IPR013333 InterPro IPR013662 http://www.ebi.ac.uk/interpro/entry/IPR013662 InterPro IPR014821 http://www.ebi.ac.uk/interpro/entry/IPR014821 InterPro IPR015925 http://www.ebi.ac.uk/interpro/entry/IPR015925 InterPro IPR016093 http://www.ebi.ac.uk/interpro/entry/IPR016093 Jabion 6262 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6262 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00293 http://www.genome.jp/dbget-bin/www_bget?H00293 KEGG_Disease H01019 http://www.genome.jp/dbget-bin/www_bget?H01019 KEGG_Gene hsa:6262 http://www.genome.jp/dbget-bin/www_bget?hsa:6262 KEGG_Orthology KO:K04962 http://www.genome.jp/dbget-bin/www_bget?KO:K04962 KEGG_Pathway ko04020 http://www.genome.jp/kegg-bin/show_pathway?ko04020 KEGG_Pathway ko04260 http://www.genome.jp/kegg-bin/show_pathway?ko04260 KEGG_Pathway ko04713 http://www.genome.jp/kegg-bin/show_pathway?ko04713 KEGG_Pathway ko04972 http://www.genome.jp/kegg-bin/show_pathway?ko04972 KEGG_Pathway ko05410 http://www.genome.jp/kegg-bin/show_pathway?ko05410 KEGG_Pathway ko05412 http://www.genome.jp/kegg-bin/show_pathway?ko05412 KEGG_Pathway ko05414 http://www.genome.jp/kegg-bin/show_pathway?ko05414 MIM 180902 http://www.ncbi.nlm.nih.gov/omim/180902 MIM 600996 http://www.ncbi.nlm.nih.gov/omim/600996 MIM 604772 http://www.ncbi.nlm.nih.gov/omim/604772 MINT MINT-1201008 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1201008 OMA RWWEHGP http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=RWWEHGP Orphanet 293888 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=293888 Orphanet 293899 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=293899 Orphanet 293910 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=293910 Orphanet 3286 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=3286 OrthoDB EOG091G00T0 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G00T0 PANTHER PTHR13715 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR13715 PDB 4JKQ http://www.ebi.ac.uk/pdbe-srv/view/entry/4JKQ PDBsum 4JKQ http://www.ebi.ac.uk/pdbsum/4JKQ PRINTS PR00795 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00795 PROSITE PS50188 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50188 PROSITE PS50919 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50919 PSORT swissprot:RYR2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:RYR2_HUMAN PSORT-B swissprot:RYR2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:RYR2_HUMAN PSORT2 swissprot:RYR2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:RYR2_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF00622 http://pfam.xfam.org/family/PF00622 Pfam PF01365 http://pfam.xfam.org/family/PF01365 Pfam PF02026 http://pfam.xfam.org/family/PF02026 Pfam PF02815 http://pfam.xfam.org/family/PF02815 Pfam PF06459 http://pfam.xfam.org/family/PF06459 Pfam PF08454 http://pfam.xfam.org/family/PF08454 Pfam PF08709 http://pfam.xfam.org/family/PF08709 Pfam PF13833 http://pfam.xfam.org/family/PF13833 Phobius swissprot:RYR2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:RYR2_HUMAN PhylomeDB Q92736 http://phylomedb.org/?seqid=Q92736 ProteinModelPortal Q92736 http://www.proteinmodelportal.org/query/uniprot/Q92736 PubMed 10830164 http://www.ncbi.nlm.nih.gov/pubmed/10830164 PubMed 11157710 http://www.ncbi.nlm.nih.gov/pubmed/11157710 PubMed 11159936 http://www.ncbi.nlm.nih.gov/pubmed/11159936 PubMed 11208676 http://www.ncbi.nlm.nih.gov/pubmed/11208676 PubMed 11805843 http://www.ncbi.nlm.nih.gov/pubmed/11805843 PubMed 12093772 http://www.ncbi.nlm.nih.gov/pubmed/12093772 PubMed 12106942 http://www.ncbi.nlm.nih.gov/pubmed/12106942 PubMed 14571276 http://www.ncbi.nlm.nih.gov/pubmed/14571276 PubMed 15046072 http://www.ncbi.nlm.nih.gov/pubmed/15046072 PubMed 15046073 http://www.ncbi.nlm.nih.gov/pubmed/15046073 PubMed 15466642 http://www.ncbi.nlm.nih.gov/pubmed/15466642 PubMed 15544015 http://www.ncbi.nlm.nih.gov/pubmed/15544015 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 17984046 http://www.ncbi.nlm.nih.gov/pubmed/17984046 PubMed 18650434 http://www.ncbi.nlm.nih.gov/pubmed/18650434 PubMed 19482609 http://www.ncbi.nlm.nih.gov/pubmed/19482609 PubMed 20056922 http://www.ncbi.nlm.nih.gov/pubmed/20056922 PubMed 20961976 http://www.ncbi.nlm.nih.gov/pubmed/20961976 PubMed 21472222 http://www.ncbi.nlm.nih.gov/pubmed/21472222 PubMed 25463374 http://www.ncbi.nlm.nih.gov/pubmed/25463374 PubMed 26405799 http://www.ncbi.nlm.nih.gov/pubmed/26405799 PubMed 8809036 http://www.ncbi.nlm.nih.gov/pubmed/8809036 PubMed 9148749 http://www.ncbi.nlm.nih.gov/pubmed/9148749 PubMed 9607712 http://www.ncbi.nlm.nih.gov/pubmed/9607712 Reactome R-HSA-2672351 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2672351 Reactome R-HSA-5578775 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5578775 RefSeq NP_001026 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001026 RefSeq XP_006711868 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006711868 SMART SM00449 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00449 SMART SM00472 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00472 SMR Q92736 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q92736 STRING 9606.ENSP00000355533 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000355533&targetmode=cogs SUPFAM SSF100909 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF100909 SUPFAM SSF47473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF47473 SUPFAM SSF49899 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF49899 SUPFAM SSF82109 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF82109 TCDB 1.A.3.1 http://www.tcdb.org/search/result.php?tc=1.A.3.1 UCSC uc001hyl http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001hyl&org=rat UniGene Hs.109514 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.109514 UniGene Hs.738571 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.738571 UniProtKB RYR2_HUMAN http://www.uniprot.org/uniprot/RYR2_HUMAN UniProtKB-AC Q92736 http://www.uniprot.org/uniprot/Q92736 charge swissprot:RYR2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:RYR2_HUMAN eggNOG ENOG410YCNW http://eggnogapi.embl.de/nog_data/html/tree/ENOG410YCNW eggNOG KOG2243 http://eggnogapi.embl.de/nog_data/html/tree/KOG2243 epestfind swissprot:RYR2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:RYR2_HUMAN garnier swissprot:RYR2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:RYR2_HUMAN helixturnhelix swissprot:RYR2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:RYR2_HUMAN hmoment swissprot:RYR2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:RYR2_HUMAN iep swissprot:RYR2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:RYR2_HUMAN inforesidue swissprot:RYR2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:RYR2_HUMAN neXtProt NX_Q92736 http://www.nextprot.org/db/entry/NX_Q92736 octanol swissprot:RYR2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:RYR2_HUMAN pepcoil swissprot:RYR2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:RYR2_HUMAN pepdigest swissprot:RYR2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:RYR2_HUMAN pepinfo swissprot:RYR2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:RYR2_HUMAN pepnet swissprot:RYR2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:RYR2_HUMAN pepstats swissprot:RYR2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:RYR2_HUMAN pepwheel swissprot:RYR2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:RYR2_HUMAN pepwindow swissprot:RYR2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:RYR2_HUMAN sigcleave swissprot:RYR2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:RYR2_HUMAN ## Database ID URL or Descriptions # AltName TAP1_HUMAN ATP-binding cassette sub-family B member 2 # AltName TAP1_HUMAN Peptide supply factor 1 # AltName TAP1_HUMAN Peptide transporter PSF1 # AltName TAP1_HUMAN Peptide transporter TAP1 # AltName TAP1_HUMAN Peptide transporter involved in antigen processing 1 # AltName TAP1_HUMAN Really interesting new gene 4 protein # BRENDA 3.6.3.43 2681 # BioGrid 112753 40 # CAUTION It is uncertain whether Met-1 or Met-61 is the initiator. {ECO 0000305}. # ChiTaRS TAP1 human # DISEASE TAP1_HUMAN Bare lymphocyte syndrome 1 (BLS1) [MIM 604571] A HLA class I deficiency. Contrary to bare lymphocyte syndromes type 2 and type 3, which are characterized by early-onset severe combined immunodeficiency, class I antigen deficiencies are not accompanied by particular pathologic manifestations during the first years of life. Systemic infections have not been described. Chronic bacterial infections, often beginning in the first decade of life, are restricted to the respiratory tract. {ECO 0000269|PubMed 10074494}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DOMAIN TAP1_HUMAN The peptide-binding site is shared between the cytoplasmic loops of TAP1 and TAP2. # DrugBank DB01259 Lapatinib # Ensembl ENST00000354258 ENSP00000346206; ENSG00000168394 # Ensembl ENST00000383235 ENSP00000372722; ENSG00000206297 # Ensembl ENST00000414467 ENSP00000405356; ENSG00000226173 # Ensembl ENST00000418205 ENSP00000401149; ENSG00000227816 # Ensembl ENST00000424897 ENSP00000413080; ENSG00000230705 # Ensembl ENST00000439781 ENSP00000415660; ENSG00000224212 # Ensembl ENST00000440894 ENSP00000402316; ENSG00000232367 # ExpressionAtlas Q03518 baseline and differential # FUNCTION TAP1_HUMAN Involved in the transport of antigens from the cytoplasm to the endoplasmic reticulum for association with MHC class I molecules. Also acts as a molecular scaffold for the final stage of MHC class I folding, namely the binding of peptide. Nascent MHC class I molecules associate with TAP via tapasin. Inhibited by the covalent attachment of herpes simplex virus ICP47 protein, which blocks the peptide-binding site of TAP. Inhibited by human cytomegalovirus US6 glycoprotein, which binds to the lumenal side of the TAP complex and inhibits peptide translocation by specifically blocking ATP-binding to TAP1 and prevents the conformational rearrangement of TAP induced by peptide binding. Inhibited by human adenovirus E3-19K glycoprotein, which binds the TAP complex and acts as a tapasin inhibitor, preventing MHC class I/TAP association. Expression of TAP1 is down-regulated by human Epstein-Barr virus vIL-10 protein, thereby affecting the transport of peptides into the endoplasmic reticulum and subsequent peptide loading by MHC class I molecules. # GO_component GO:0005739 mitochondrion; IEA:Ensembl. # GO_component GO:0005789 endoplasmic reticulum membrane; TAS:Reactome. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; IDA:UniProtKB. # GO_component GO:0030176 integral component of endoplasmic reticulum membrane; IDA:UniProtKB. # GO_component GO:0042825 TAP complex; IDA:UniProtKB. # GO_component GO:0043657 host cell; IEA:GOC. # GO_function GO:0005524 ATP binding; IDA:UniProtKB. # GO_function GO:0015197 peptide transporter activity; IMP:UniProtKB. # GO_function GO:0015433 peptide antigen-transporting ATPase activity; IEA:Ensembl. # GO_function GO:0023029 MHC class Ib protein binding; IPI:UniProtKB. # GO_function GO:0042605 peptide antigen binding; NAS:UniProtKB. # GO_function GO:0042626 ATPase activity, coupled to transmembrane movement of substances; IBA:GO_Central. # GO_function GO:0042803 protein homodimerization activity; ISS:UniProtKB. # GO_function GO:0043531 ADP binding; IDA:UniProtKB. # GO_function GO:0046978 TAP1 binding; ISS:UniProtKB. # GO_function GO:0046979 TAP2 binding; IPI:UniProtKB. # GO_process GO:0002250 adaptive immune response; IEA:UniProtKB-KW. # GO_process GO:0002474 antigen processing and presentation of peptide antigen via MHC class I; TAS:Reactome. # GO_process GO:0002481 antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent; IBA:GO_Central. # GO_process GO:0002485 antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent; IBA:GO_Central. # GO_process GO:0002489 antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent; IBA:GO_Central. # GO_process GO:0002591 positive regulation of antigen processing and presentation of peptide antigen via MHC class I; IBA:GO_Central. # GO_process GO:0006952 defense response; IEA:Ensembl. # GO_process GO:0015833 peptide transport; IMP:UniProtKB. # GO_process GO:0019060 intracellular transport of viral protein in host cell; IMP:UniProtKB. # GO_process GO:0019885 antigen processing and presentation of endogenous peptide antigen via MHC class I; IMP:UniProtKB. # GO_process GO:0046967 cytosol to ER transport; IMP:UniProtKB. # GO_process GO:0055085 transmembrane transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005739 mitochondrion # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0002376 immune system process # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0008150 biological_process # GOslim_process GO:0044403 symbiosis, encompassing mutualism through parasitism # GOslim_process GO:0055085 transmembrane transport # Gene3D 3.40.50.300 -; 1. # Genevisible Q03518 HS # HGNC HGNC:43 TAP1 # INDUCTION TAP1_HUMAN By IFNG/IFN-gamma. # INTERACTION TAP1_HUMAN P0C739 BNLF2a (xeno); NbExp=9; IntAct=EBI-747259, EBI-9346744; P27797 CALR; NbExp=2; IntAct=EBI-747259, EBI-1049597; Q77CE4 gN (xeno); NbExp=6; IntAct=EBI-747259, EBI-11303846; P07237 P4HB; NbExp=4; IntAct=EBI-747259, EBI-395883; P30101 PDIA3; NbExp=4; IntAct=EBI-747259, EBI-979862; Q03519 TAP2; NbExp=15; IntAct=EBI-747259, EBI-780781; O15533 TAPBP; NbExp=14; IntAct=EBI-747259, EBI-874801; Q13769 THOC5; NbExp=4; IntAct=EBI-747259, EBI-5280316; # IntAct Q03518 41 # InterPro IPR003439 ABC_transporter-like # InterPro IPR003593 AAA+_ATPase # InterPro IPR011527 ABC1_TM_dom # InterPro IPR013305 ABC_Tap-like # InterPro IPR013306 Tap1/ABCB2 # InterPro IPR017871 ABC_transporter_CS # InterPro IPR027417 P-loop_NTPase # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02000 Transporters # KEGG_Disease H00093 [Primary immunodeficiency] CD8 deficiency # KEGG_Disease H00984 [Inherited metabolic disease; Immune system disease] Bare lymphocyte syndrome (BLS) type1 # KEGG_Pathway ko02010 ABC transporters # KEGG_Pathway ko04145 Phagosome # KEGG_Pathway ko04612 Antigen processing and presentation # KEGG_Pathway ko05168 Herpes simplex infection # KEGG_Pathway ko05340 Primary immunodeficiency # MIM 170260 gene # MIM 604571 phenotype # Organism TAP1_HUMAN Homo sapiens (Human) # Orphanet 34592 Immunodeficiency by defective expression of HLA class 1 # PANTHER PTHR24221:SF249 PTHR24221:SF249; 2 # PDB 1JJ7 X-ray; 2.40 A; A=549-808 # PIR S13427 A41538 # POLYMORPHISM TAP1_HUMAN There are five common alleles; TAP1*01 01 (PSF1A), TAP1*02 01 (PSF1B), TAP1*03 01 (PSF1C), TAP1*01 04 and TAP1*x. The sequence of TAP1*01 01 is shown here. {ECO 0000269|PubMed 11250043, ECO 0000269|PubMed 12878362, ECO 0000269|PubMed 1570316, ECO 0000269|PubMed 8168860, ECO 0000269|PubMed 8248212}. # PROSITE PS00211 ABC_TRANSPORTER_1 # PROSITE PS50893 ABC_TRANSPORTER_2 # PROSITE PS50929 ABC_TM1F # Pfam PF00005 ABC_tran # Pfam PF00664 ABC_membrane # Proteomes UP000005640 Chromosome 6 # Reactome R-HSA-1236974 ER-Phagosome pathway # Reactome R-HSA-983170:Antigen Presentation Folding, assembly and peptide loading of class I MHC # RecName TAP1_HUMAN Antigen peptide transporter 1 # RefSeq NP_000584 NM_000593.5 # RefSeq NP_001278951 NM_001292022.1 # SEQUENCE CAUTION Sequence=CAA47025.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAA60785.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the ABC transporter superfamily. ABCB family. MHC peptide exporter (TC 3.A.1.209) subfamily. {ECO 0000305}. # SIMILARITY Contains 1 ABC transmembrane type-1 domain. {ECO:0000255|PROSITE-ProRule PRU00441}. # SIMILARITY Contains 1 ABC transporter domain. {ECO:0000255|PROSITE-ProRule PRU00434}. # SMART SM00382 AAA # SUBCELLULAR LOCATION TAP1_HUMAN Endoplasmic reticulum membrane; Multi-pass membrane protein. Note=The transmembrane segments seem to form a pore in the membrane. # SUBUNIT TAP1_HUMAN Heterodimer of TAP1 and TAP2. Interacts with Epstein-Barr virus BNLF2a. Interacts with herpes simplex virus ICP47 (PubMed 7760936). Interacts with PSMB5 and PSMB8. {ECO 0000269|PubMed 15488952, ECO 0000269|PubMed 19201886, ECO 0000269|PubMed 7760936}. # SUPFAM SSF52540 SSF52540 # SUPFAM SSF90123 SSF90123 # TCDB 3.A.1.209 the atp-binding cassette (abc) superfamily # TIGRFAMs TIGR00958 3a01208 # UCSC uc003ocg human # WEB RESOURCE TAP1_HUMAN Name=ABCMdb; Note=Database for mutations in ABC proteins; URL="http //abcmutations.hegelab.org/proteinDetails?uniprot_id=Q03518"; # WEB RESOURCE TAP1_HUMAN Name=TAP1base; Note=TAP1 mutation db; URL="http //structure.bmc.lu.se/idbase/TAP1base/"; # eggNOG COG1132 LUCA # eggNOG KOG0058 Eukaryota BLAST swissprot:TAP1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:TAP1_HUMAN BioCyc ZFISH:ENSG00000168394-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000168394-MONOMER COXPRESdb 6890 http://coxpresdb.jp/data/gene/6890.shtml CleanEx HS_TAP1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_TAP1 DIP DIP-35626N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-35626N DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1006/jmbi.1996.0001 http://dx.doi.org/10.1006/jmbi.1996.0001 DOI 10.1007/BF00189240 http://dx.doi.org/10.1007/BF00189240 DOI 10.1016/0022-2836(92)90832-5 http://dx.doi.org/10.1016/0022-2836(92)90832-5 DOI 10.1016/S0198-8859(00)00259-7 http://dx.doi.org/10.1016/S0198-8859(00)00259-7 DOI 10.1016/S0198-8859(03)00110-1 http://dx.doi.org/10.1016/S0198-8859(03)00110-1 DOI 10.1016/S1074-7613(00)80349-0 http://dx.doi.org/10.1016/S1074-7613(00)80349-0 DOI 10.1016/j.molimm.2004.07.005 http://dx.doi.org/10.1016/j.molimm.2004.07.005 DOI 10.1038/348741a0 http://dx.doi.org/10.1038/348741a0 DOI 10.1038/348744a0 http://dx.doi.org/10.1038/348744a0 DOI 10.1038/375415a0 http://dx.doi.org/10.1038/375415a0 DOI 10.1038/nature02055 http://dx.doi.org/10.1038/nature02055 DOI 10.1038/ng0696-210 http://dx.doi.org/10.1038/ng0696-210 DOI 10.1073/pnas.88.22.10094 http://dx.doi.org/10.1073/pnas.88.22.10094 DOI 10.1073/pnas.89.9.3932 http://dx.doi.org/10.1073/pnas.89.9.3932 DOI 10.1073/pnas.90.23.11079 http://dx.doi.org/10.1073/pnas.90.23.11079 DOI 10.1093/emboj/20.17.4964 http://dx.doi.org/10.1093/emboj/20.17.4964 DOI 10.1093/emboj/20.3.387 http://dx.doi.org/10.1093/emboj/20.3.387 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1172/JCI5335 http://dx.doi.org/10.1172/JCI5335 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DOI 10.4049/jimmunol.0803218 http://dx.doi.org/10.4049/jimmunol.0803218 DrugBank DB01259 http://www.drugbank.ca/drugs/DB01259 EMBL AL669918 http://www.ebi.ac.uk/ena/data/view/AL669918 EMBL AL671681 http://www.ebi.ac.uk/ena/data/view/AL671681 EMBL AL935043 http://www.ebi.ac.uk/ena/data/view/AL935043 EMBL BC014081 http://www.ebi.ac.uk/ena/data/view/BC014081 EMBL BX927138 http://www.ebi.ac.uk/ena/data/view/BX927138 EMBL CH471081 http://www.ebi.ac.uk/ena/data/view/CH471081 EMBL CR753889 http://www.ebi.ac.uk/ena/data/view/CR753889 EMBL CR762476 http://www.ebi.ac.uk/ena/data/view/CR762476 EMBL CR933844 http://www.ebi.ac.uk/ena/data/view/CR933844 EMBL L21204 http://www.ebi.ac.uk/ena/data/view/L21204 EMBL L21205 http://www.ebi.ac.uk/ena/data/view/L21205 EMBL L21206 http://www.ebi.ac.uk/ena/data/view/L21206 EMBL L21207 http://www.ebi.ac.uk/ena/data/view/L21207 EMBL L21208 http://www.ebi.ac.uk/ena/data/view/L21208 EMBL S70274 http://www.ebi.ac.uk/ena/data/view/S70274 EMBL X57521 http://www.ebi.ac.uk/ena/data/view/X57521 EMBL X57522 http://www.ebi.ac.uk/ena/data/view/X57522 EMBL X66401 http://www.ebi.ac.uk/ena/data/view/X66401 EMBL X87344 http://www.ebi.ac.uk/ena/data/view/X87344 Ensembl ENST00000354258 http://www.ensembl.org/id/ENST00000354258 Ensembl ENST00000383235 http://www.ensembl.org/id/ENST00000383235 Ensembl ENST00000414467 http://www.ensembl.org/id/ENST00000414467 Ensembl ENST00000418205 http://www.ensembl.org/id/ENST00000418205 Ensembl ENST00000424897 http://www.ensembl.org/id/ENST00000424897 Ensembl ENST00000439781 http://www.ensembl.org/id/ENST00000439781 Ensembl ENST00000440894 http://www.ensembl.org/id/ENST00000440894 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005789 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005789 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0030176 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030176 GO_component GO:0042825 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042825 GO_component GO:0043657 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043657 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0015197 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015197 GO_function GO:0015433 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015433 GO_function GO:0023029 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0023029 GO_function GO:0042605 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042605 GO_function GO:0042626 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042626 GO_function GO:0042803 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042803 GO_function GO:0043531 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043531 GO_function GO:0046978 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046978 GO_function GO:0046979 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046979 GO_process GO:0002250 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002250 GO_process GO:0002474 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002474 GO_process GO:0002481 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002481 GO_process GO:0002485 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002485 GO_process GO:0002489 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002489 GO_process GO:0002591 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002591 GO_process GO:0006952 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006952 GO_process GO:0015833 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015833 GO_process GO:0019060 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019060 GO_process GO:0019885 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019885 GO_process GO:0046967 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046967 GO_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0002376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002376 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0044403 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044403 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 3.40.50.300 http://www.cathdb.info/version/latest/superfamily/3.40.50.300 GeneCards TAP1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=TAP1 GeneID 6890 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6890 GeneTree ENSGT00550000074497 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074497 HGNC HGNC:43 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:43 HOVERGEN HBG008358 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG008358&db=HOVERGEN HPA CAB009516 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB009516 InParanoid Q03518 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q03518 IntAct Q03518 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q03518* InterPro IPR003439 http://www.ebi.ac.uk/interpro/entry/IPR003439 InterPro IPR003593 http://www.ebi.ac.uk/interpro/entry/IPR003593 InterPro IPR011527 http://www.ebi.ac.uk/interpro/entry/IPR011527 InterPro IPR013305 http://www.ebi.ac.uk/interpro/entry/IPR013305 InterPro IPR013306 http://www.ebi.ac.uk/interpro/entry/IPR013306 InterPro IPR017871 http://www.ebi.ac.uk/interpro/entry/IPR017871 InterPro IPR027417 http://www.ebi.ac.uk/interpro/entry/IPR027417 Jabion 6890 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6890 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Disease H00093 http://www.genome.jp/dbget-bin/www_bget?H00093 KEGG_Disease H00984 http://www.genome.jp/dbget-bin/www_bget?H00984 KEGG_Gene hsa:6890 http://www.genome.jp/dbget-bin/www_bget?hsa:6890 KEGG_Orthology KO:K05653 http://www.genome.jp/dbget-bin/www_bget?KO:K05653 KEGG_Pathway ko02010 http://www.genome.jp/kegg-bin/show_pathway?ko02010 KEGG_Pathway ko04145 http://www.genome.jp/kegg-bin/show_pathway?ko04145 KEGG_Pathway ko04612 http://www.genome.jp/kegg-bin/show_pathway?ko04612 KEGG_Pathway ko05168 http://www.genome.jp/kegg-bin/show_pathway?ko05168 KEGG_Pathway ko05340 http://www.genome.jp/kegg-bin/show_pathway?ko05340 MIM 170260 http://www.ncbi.nlm.nih.gov/omim/170260 MIM 604571 http://www.ncbi.nlm.nih.gov/omim/604571 MINT MINT-1477433 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1477433 OMA CLGEMAI http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=CLGEMAI Orphanet 34592 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=34592 OrthoDB EOG091G05Q9 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G05Q9 PANTHER PTHR24221:SF249 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24221:SF249 PDB 1JJ7 http://www.ebi.ac.uk/pdbe-srv/view/entry/1JJ7 PDBsum 1JJ7 http://www.ebi.ac.uk/pdbsum/1JJ7 PROSITE PS00211 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00211 PROSITE PS50893 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50893 PROSITE PS50929 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50929 PSORT swissprot:TAP1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:TAP1_HUMAN PSORT-B swissprot:TAP1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:TAP1_HUMAN PSORT2 swissprot:TAP1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:TAP1_HUMAN Pfam PF00005 http://pfam.xfam.org/family/PF00005 Pfam PF00664 http://pfam.xfam.org/family/PF00664 PharmGKB PA35021 http://www.pharmgkb.org/do/serve?objId=PA35021&objCls=Gene Phobius swissprot:TAP1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:TAP1_HUMAN PhylomeDB Q03518 http://phylomedb.org/?seqid=Q03518 ProteinModelPortal Q03518 http://www.proteinmodelportal.org/query/uniprot/Q03518 PubMed 10074494 http://www.ncbi.nlm.nih.gov/pubmed/10074494 PubMed 10227971 http://www.ncbi.nlm.nih.gov/pubmed/10227971 PubMed 11157746 http://www.ncbi.nlm.nih.gov/pubmed/11157746 PubMed 11250043 http://www.ncbi.nlm.nih.gov/pubmed/11250043 PubMed 11532960 http://www.ncbi.nlm.nih.gov/pubmed/11532960 PubMed 12878362 http://www.ncbi.nlm.nih.gov/pubmed/12878362 PubMed 1453454 http://www.ncbi.nlm.nih.gov/pubmed/1453454 PubMed 14574404 http://www.ncbi.nlm.nih.gov/pubmed/14574404 PubMed 15488952 http://www.ncbi.nlm.nih.gov/pubmed/15488952 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 1570316 http://www.ncbi.nlm.nih.gov/pubmed/1570316 PubMed 19201886 http://www.ncbi.nlm.nih.gov/pubmed/19201886 PubMed 1946428 http://www.ncbi.nlm.nih.gov/pubmed/1946428 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 2259383 http://www.ncbi.nlm.nih.gov/pubmed/2259383 PubMed 2259384 http://www.ncbi.nlm.nih.gov/pubmed/2259384 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 7760936 http://www.ncbi.nlm.nih.gov/pubmed/7760936 PubMed 8168860 http://www.ncbi.nlm.nih.gov/pubmed/8168860 PubMed 8248212 http://www.ncbi.nlm.nih.gov/pubmed/8248212 PubMed 8568858 http://www.ncbi.nlm.nih.gov/pubmed/8568858 PubMed 8640228 http://www.ncbi.nlm.nih.gov/pubmed/8640228 PubMed 8670825 http://www.ncbi.nlm.nih.gov/pubmed/8670825 PubMed 8955196 http://www.ncbi.nlm.nih.gov/pubmed/8955196 PubMed 9175839 http://www.ncbi.nlm.nih.gov/pubmed/9175839 PubMed 9310490 http://www.ncbi.nlm.nih.gov/pubmed/9310490 Reactome R-HSA-1236974 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1236974 Reactome R-HSA-983170 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-983170 RefSeq NP_000584 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000584 RefSeq NP_001278951 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001278951 SMART SM00382 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00382 SMR Q03518 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q03518 STRING 9606.ENSP00000346206 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000346206&targetmode=cogs SUPFAM SSF52540 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52540 SUPFAM SSF90123 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF90123 TCDB 3.A.1.209 http://www.tcdb.org/search/result.php?tc=3.A.1.209 TIGRFAMs TIGR00958 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00958 UCSC uc003ocg http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003ocg&org=rat UniGene Hs.352018 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.352018 UniGene Hs.731555 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.731555 UniProtKB TAP1_HUMAN http://www.uniprot.org/uniprot/TAP1_HUMAN UniProtKB-AC Q03518 http://www.uniprot.org/uniprot/Q03518 charge swissprot:TAP1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:TAP1_HUMAN eggNOG COG1132 http://eggnogapi.embl.de/nog_data/html/tree/COG1132 eggNOG KOG0058 http://eggnogapi.embl.de/nog_data/html/tree/KOG0058 epestfind swissprot:TAP1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:TAP1_HUMAN garnier swissprot:TAP1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:TAP1_HUMAN helixturnhelix swissprot:TAP1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:TAP1_HUMAN hmoment swissprot:TAP1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:TAP1_HUMAN iep swissprot:TAP1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:TAP1_HUMAN inforesidue swissprot:TAP1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:TAP1_HUMAN neXtProt NX_Q03518 http://www.nextprot.org/db/entry/NX_Q03518 octanol swissprot:TAP1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:TAP1_HUMAN pepcoil swissprot:TAP1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:TAP1_HUMAN pepdigest swissprot:TAP1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:TAP1_HUMAN pepinfo swissprot:TAP1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:TAP1_HUMAN pepnet swissprot:TAP1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:TAP1_HUMAN pepstats swissprot:TAP1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:TAP1_HUMAN pepwheel swissprot:TAP1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:TAP1_HUMAN pepwindow swissprot:TAP1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:TAP1_HUMAN sigcleave swissprot:TAP1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:TAP1_HUMAN ## Database ID URL or Descriptions # AltName GBRT_HUMAN GABA(A) receptor subunit theta # DrugBank DB00186 Lorazepam # DrugBank DB00189 Ethchlorvynol # DrugBank DB00228 Enflurane # DrugBank DB00231 Temazepam # DrugBank DB00237 Butabarbital # DrugBank DB00241 Butalbital # DrugBank DB00273 Topiramate # DrugBank DB00292 Etomidate # DrugBank DB00306 Talbutal # DrugBank DB00312 Pentobarbital # DrugBank DB00334 Olanzapine # DrugBank DB00349 Clobazam # DrugBank DB00371 Meprobamate # DrugBank DB00402 Eszopiclone # DrugBank DB00404 Alprazolam # DrugBank DB00475 Chlordiazepoxide # DrugBank DB00543 Amoxapine # DrugBank DB00628 Clorazepate # DrugBank DB00659 Acamprosate # DrugBank DB00683 Midazolam # DrugBank DB00690 Flurazepam # DrugBank DB00753 Isoflurane # DrugBank DB00794 Primidone # DrugBank DB00801 Halazepam # DrugBank DB00818 Propofol # DrugBank DB00829 Diazepam # DrugBank DB00842 Oxazepam # DrugBank DB00897 Triazolam # DrugBank DB00898 Ethanol # DrugBank DB01028 Methoxyflurane # DrugBank DB01049 Ergoloid mesylate # DrugBank DB01068 Clonazepam # DrugBank DB01107 Methyprylon # DrugBank DB01159 Halothane # DrugBank DB01189 Desflurane # DrugBank DB01205 Flumazenil # DrugBank DB01215 Estazolam # DrugBank DB01236 Sevoflurane # DrugBank DB01437 Glutethimide # DrugBank DB01558 Bromazepam # DrugBank DB01588 Prazepam # DrugBank DB01589 Quazepam # DrugBank DB01595 Nitrazepam # Ensembl ENST00000598523 ENSP00000469332; ENSG00000268089 # FUNCTION GBRT_HUMAN GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0034707 chloride channel complex; IEA:UniProtKB-KW. # GO_component GO:0043235 receptor complex; IDA:MGI. # GO_component GO:0045211 postsynaptic membrane; IEA:UniProtKB-SubCell. # GO_component GO:1902711 GABA-A receptor complex; IBA:GO_Central. # GO_function GO:0004888 transmembrane signaling receptor activity; TAS:ProtInc. # GO_function GO:0004890 GABA-A receptor activity; IEA:InterPro. # GO_function GO:0005230 extracellular ligand-gated ion channel activity; IEA:InterPro. # GO_function GO:0005254 chloride channel activity; IEA:UniProtKB-KW. # GO_function GO:0005326 neurotransmitter transporter activity; TAS:ProtInc. # GO_process GO:0007165 signal transduction; TAS:ProtInc. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0055085 transmembrane transport # Gene3D 2.70.170.10 -; 1. # Genevisible Q9UN88 HS # HGNC HGNC:14454 GABRQ # InterPro IPR006028 GABAA/Glycine_rcpt # InterPro IPR006029 Neurotrans-gated_channel_TM # InterPro IPR006201 Neur_channel # InterPro IPR006202 Neur_chan_lig-bd # InterPro IPR008101 GABAAt_rcpt # InterPro IPR018000 Neurotransmitter_ion_chnl_CS # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04080 Neuroactive ligand-receptor interaction # KEGG_Pathway ko04723 Retrograde endocannabinoid signaling # KEGG_Pathway ko04727 GABAergic synapse # KEGG_Pathway ko05032 Morphine addiction # KEGG_Pathway ko05033 Nicotine addiction # MIM 300349 gene # Organism GBRT_HUMAN Homo sapiens (Human) # PANTHER PTHR18945 PTHR18945; 3 # PRINTS PR00252 NRIONCHANNEL # PRINTS PR00253 GABAARECEPTR # PRINTS PR01725 GABAARTHETA # PROSITE PS00236 NEUROTR_ION_CHANNEL # Pfam PF02931 Neur_chan_LBD # Pfam PF02932 Neur_chan_memb # Proteomes UP000005640 Chromosome X # Reactome R-HSA-112314 Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell # Reactome R-HSA-975298 Ligand-gated ion channel transport # Reactome R-HSA-977441 GABA A receptor activation # RecName GBRT_HUMAN Gamma-aminobutyric acid receptor subunit theta # RefSeq NP_061028 NM_018558.3 # SIMILARITY Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRQ sub-subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION GBRT_HUMAN Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. # SUBUNIT GBRT_HUMAN Generally pentameric. This subunit coassembles with alpha-2, beta-1 and gamma-1. # SUPFAM SSF63712 SSF63712 # SUPFAM SSF90112 SSF90112; 2 # TIGRFAMs TIGR00860 LIC # UCSC uc004ffp human # eggNOG ENOG410XPWH LUCA # eggNOG KOG3643 Eukaryota BLAST swissprot:GBRT_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:GBRT_HUMAN BioCyc ZFISH:ENSG00000147402-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000147402-MONOMER COXPRESdb 55879 http://coxpresdb.jp/data/gene/55879.shtml CleanEx HS_GABRQ http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_GABRQ DOI 10.1038/nature03440 http://dx.doi.org/10.1038/nature03440 DOI 10.1073/pnas.96.17.9891 http://dx.doi.org/10.1073/pnas.96.17.9891 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DrugBank DB00186 http://www.drugbank.ca/drugs/DB00186 DrugBank DB00189 http://www.drugbank.ca/drugs/DB00189 DrugBank DB00228 http://www.drugbank.ca/drugs/DB00228 DrugBank DB00231 http://www.drugbank.ca/drugs/DB00231 DrugBank DB00237 http://www.drugbank.ca/drugs/DB00237 DrugBank DB00241 http://www.drugbank.ca/drugs/DB00241 DrugBank DB00273 http://www.drugbank.ca/drugs/DB00273 DrugBank DB00292 http://www.drugbank.ca/drugs/DB00292 DrugBank DB00306 http://www.drugbank.ca/drugs/DB00306 DrugBank DB00312 http://www.drugbank.ca/drugs/DB00312 DrugBank DB00334 http://www.drugbank.ca/drugs/DB00334 DrugBank DB00349 http://www.drugbank.ca/drugs/DB00349 DrugBank DB00371 http://www.drugbank.ca/drugs/DB00371 DrugBank DB00402 http://www.drugbank.ca/drugs/DB00402 DrugBank DB00404 http://www.drugbank.ca/drugs/DB00404 DrugBank DB00475 http://www.drugbank.ca/drugs/DB00475 DrugBank DB00543 http://www.drugbank.ca/drugs/DB00543 DrugBank DB00628 http://www.drugbank.ca/drugs/DB00628 DrugBank DB00659 http://www.drugbank.ca/drugs/DB00659 DrugBank DB00683 http://www.drugbank.ca/drugs/DB00683 DrugBank DB00690 http://www.drugbank.ca/drugs/DB00690 DrugBank DB00753 http://www.drugbank.ca/drugs/DB00753 DrugBank DB00794 http://www.drugbank.ca/drugs/DB00794 DrugBank DB00801 http://www.drugbank.ca/drugs/DB00801 DrugBank DB00818 http://www.drugbank.ca/drugs/DB00818 DrugBank DB00829 http://www.drugbank.ca/drugs/DB00829 DrugBank DB00842 http://www.drugbank.ca/drugs/DB00842 DrugBank DB00897 http://www.drugbank.ca/drugs/DB00897 DrugBank DB00898 http://www.drugbank.ca/drugs/DB00898 DrugBank DB01028 http://www.drugbank.ca/drugs/DB01028 DrugBank DB01049 http://www.drugbank.ca/drugs/DB01049 DrugBank DB01068 http://www.drugbank.ca/drugs/DB01068 DrugBank DB01107 http://www.drugbank.ca/drugs/DB01107 DrugBank DB01159 http://www.drugbank.ca/drugs/DB01159 DrugBank DB01189 http://www.drugbank.ca/drugs/DB01189 DrugBank DB01205 http://www.drugbank.ca/drugs/DB01205 DrugBank DB01215 http://www.drugbank.ca/drugs/DB01215 DrugBank DB01236 http://www.drugbank.ca/drugs/DB01236 DrugBank DB01437 http://www.drugbank.ca/drugs/DB01437 DrugBank DB01558 http://www.drugbank.ca/drugs/DB01558 DrugBank DB01588 http://www.drugbank.ca/drugs/DB01588 DrugBank DB01589 http://www.drugbank.ca/drugs/DB01589 DrugBank DB01595 http://www.drugbank.ca/drugs/DB01595 EMBL AF002997 http://www.ebi.ac.uk/ena/data/view/AF002997 EMBL AF144648 http://www.ebi.ac.uk/ena/data/view/AF144648 EMBL AF189259 http://www.ebi.ac.uk/ena/data/view/AF189259 EMBL BC109210 http://www.ebi.ac.uk/ena/data/view/BC109210 EMBL BC109211 http://www.ebi.ac.uk/ena/data/view/BC109211 EMBL CH471169 http://www.ebi.ac.uk/ena/data/view/CH471169 Ensembl ENST00000598523 http://www.ensembl.org/id/ENST00000598523 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0034707 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034707 GO_component GO:0043235 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043235 GO_component GO:0045211 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045211 GO_component GO:1902711 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902711 GO_function GO:0004888 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004888 GO_function GO:0004890 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004890 GO_function GO:0005230 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005230 GO_function GO:0005254 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005254 GO_function GO:0005326 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005326 GO_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 2.70.170.10 http://www.cathdb.info/version/latest/superfamily/2.70.170.10 GeneCards GABRQ http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=GABRQ GeneID 55879 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=55879 H-InvDB HIX0056145 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0056145 HGNC HGNC:14454 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:14454 HOGENOM HOG000049189 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000049189&db=HOGENOM6 HOVERGEN HBG051708 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG051708&db=HOVERGEN HPA HPA002063 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA002063 InParanoid Q9UN88 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9UN88 InterPro IPR006028 http://www.ebi.ac.uk/interpro/entry/IPR006028 InterPro IPR006029 http://www.ebi.ac.uk/interpro/entry/IPR006029 InterPro IPR006201 http://www.ebi.ac.uk/interpro/entry/IPR006201 InterPro IPR006202 http://www.ebi.ac.uk/interpro/entry/IPR006202 InterPro IPR008101 http://www.ebi.ac.uk/interpro/entry/IPR008101 InterPro IPR018000 http://www.ebi.ac.uk/interpro/entry/IPR018000 Jabion 55879 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=55879 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:55879 http://www.genome.jp/dbget-bin/www_bget?hsa:55879 KEGG_Orthology KO:K05192 http://www.genome.jp/dbget-bin/www_bget?KO:K05192 KEGG_Pathway ko04080 http://www.genome.jp/kegg-bin/show_pathway?ko04080 KEGG_Pathway ko04723 http://www.genome.jp/kegg-bin/show_pathway?ko04723 KEGG_Pathway ko04727 http://www.genome.jp/kegg-bin/show_pathway?ko04727 KEGG_Pathway ko05032 http://www.genome.jp/kegg-bin/show_pathway?ko05032 KEGG_Pathway ko05033 http://www.genome.jp/kegg-bin/show_pathway?ko05033 MIM 300349 http://www.ncbi.nlm.nih.gov/omim/300349 OrthoDB EOG091G0805 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0805 PANTHER PTHR18945 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR18945 PRINTS PR00252 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00252 PRINTS PR00253 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00253 PRINTS PR01725 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01725 PROSITE PS00236 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00236 PSORT swissprot:GBRT_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:GBRT_HUMAN PSORT-B swissprot:GBRT_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:GBRT_HUMAN PSORT2 swissprot:GBRT_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:GBRT_HUMAN Pfam PF02931 http://pfam.xfam.org/family/PF02931 Pfam PF02932 http://pfam.xfam.org/family/PF02932 PharmGKB PA28504 http://www.pharmgkb.org/do/serve?objId=PA28504&objCls=Gene Phobius swissprot:GBRT_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:GBRT_HUMAN PhylomeDB Q9UN88 http://phylomedb.org/?seqid=Q9UN88 ProteinModelPortal Q9UN88 http://www.proteinmodelportal.org/query/uniprot/Q9UN88 PubMed 10449790 http://www.ncbi.nlm.nih.gov/pubmed/10449790 PubMed 10804200 http://www.ncbi.nlm.nih.gov/pubmed/10804200 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15772651 http://www.ncbi.nlm.nih.gov/pubmed/15772651 Reactome R-HSA-112314 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-112314 Reactome R-HSA-975298 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-975298 Reactome R-HSA-977441 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-977441 RefSeq NP_061028 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_061028 SMR Q9UN88 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9UN88 STRING 9606.ENSP00000359329 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000359329&targetmode=cogs SUPFAM SSF63712 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF63712 SUPFAM SSF90112 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF90112 TIGRFAMs TIGR00860 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00860 UCSC uc004ffp http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc004ffp&org=rat UniGene Hs.283081 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.283081 UniProtKB GBRT_HUMAN http://www.uniprot.org/uniprot/GBRT_HUMAN UniProtKB-AC Q9UN88 http://www.uniprot.org/uniprot/Q9UN88 charge swissprot:GBRT_HUMAN http://rest.g-language.org/emboss/charge/swissprot:GBRT_HUMAN eggNOG ENOG410XPWH http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XPWH eggNOG KOG3643 http://eggnogapi.embl.de/nog_data/html/tree/KOG3643 epestfind swissprot:GBRT_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:GBRT_HUMAN garnier swissprot:GBRT_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:GBRT_HUMAN helixturnhelix swissprot:GBRT_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:GBRT_HUMAN hmoment swissprot:GBRT_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:GBRT_HUMAN iep swissprot:GBRT_HUMAN http://rest.g-language.org/emboss/iep/swissprot:GBRT_HUMAN inforesidue swissprot:GBRT_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:GBRT_HUMAN neXtProt NX_Q9UN88 http://www.nextprot.org/db/entry/NX_Q9UN88 octanol swissprot:GBRT_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:GBRT_HUMAN pepcoil swissprot:GBRT_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:GBRT_HUMAN pepdigest swissprot:GBRT_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:GBRT_HUMAN pepinfo swissprot:GBRT_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:GBRT_HUMAN pepnet swissprot:GBRT_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:GBRT_HUMAN pepstats swissprot:GBRT_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:GBRT_HUMAN pepwheel swissprot:GBRT_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:GBRT_HUMAN pepwindow swissprot:GBRT_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:GBRT_HUMAN sigcleave swissprot:GBRT_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:GBRT_HUMAN ## Database ID URL or Descriptions # AltName KCNA4_HUMAN HPCN2 # AltName KCNA4_HUMAN Voltage-gated potassium channel HBK4 # AltName KCNA4_HUMAN Voltage-gated potassium channel subunit Kv1.4 # AltName Voltage-gated K(+) channel HuKII {ECO:0000303|PubMed 19912772} # AltName Voltage-gated potassium channel HK1 {ECO:0000303|PubMed 2001794} # BioGrid 109942 18 # DOMAIN KCNA4_HUMAN The N-terminus may be important in determining the rate of inactivation of the channel while the tail may play a role in modulation of channel activity and/or targeting of the channel to specific subcellular compartments. {ECO 0000250|UniProtKB Q28527}. # DOMAIN KCNA4_HUMAN The transmembrane segment S4 functions as voltage-sensor and is characterized by a series of positively charged amino acids at every third position. Channel opening and closing is effected by a conformation change that affects the position and orientation of the voltage-sensor paddle formed by S3 and S4 within the membrane. A transmembrane electric field that is positive inside would push the positively charged S4 segment outwards, thereby opening the pore, while a field that is negative inside would pull the S4 segment inwards and close the pore. Changes in the position and orientation of S4 are then transmitted to the activation gate formed by the inner helix bundle via the S4-S5 linker region. {ECO 0000250|UniProtKB P63142}. # DrugBank DB06637 Dalfampridine # ENZYME REGULATION Inhibited by 4-aminopyridine (4-AP), but not by tetraethylammonium (TEA) and charybdotoxin (CTX). {ECO:0000269|PubMed 19912772}. # Ensembl ENST00000328224 ENSP00000328511; ENSG00000182255 # FUNCTION KCNA4_HUMAN Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes. Forms tetrameric potassium-selective channels through which potassium ions pass in accordance with their electrochemical gradient. The channel alternates between opened and closed conformations in response to the voltage difference across the membrane (PubMed 19912772, PubMed 8495559). Can form functional homotetrameric channels and heterotetrameric channels that contain variable proportions of KCNA1, KCNA2, KCNA4, KCNA5, and possibly other family members as well; channel properties depend on the type of alpha subunits that are part of the channel (PubMed 8495559). Channel properties are modulated by cytoplasmic beta subunits that regulate the subcellular location of the alpha subunits and promote rapid inactivation. In vivo, membranes probably contain a mixture of heteromeric potassium channel complexes, making it difficult to assign currents observed in intact tissues to any particular potassium channel family member. Homotetrameric KCNA4 forms a potassium channel that opens in response to membrane depolarization, followed by rapid spontaneous channel closure (PubMed 19912772, PubMed 8495559). Likewise, a heterotetrameric channel formed by KCNA1 and KCNA4 shows rapid inactivation (PubMed 17156368). {ECO 0000269|PubMed 17156368, ECO 0000269|PubMed 19912772, ECO 0000269|PubMed 8495559}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IMP:UniProtKB. # GO_component GO:0008076 voltage-gated potassium channel complex; IMP:UniProtKB. # GO_component GO:0016021 integral component of membrane; ISS:UniProtKB. # GO_component GO:0030424 axon; ISS:UniProtKB. # GO_function GO:0005249 voltage-gated potassium channel activity; IDA:UniProtKB. # GO_function GO:0030955 potassium ion binding; IEA:InterPro. # GO_process GO:0006813 potassium ion transport; TAS:ProtInc. # GO_process GO:0051260 protein homooligomerization; IEA:InterPro. # GO_process GO:0071805 potassium ion transmembrane transport; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.20.120.350 -; 1. # Gene3D 1.20.5.600 -; 1. # Genevisible P22459 HS # HGNC HGNC:6222 KCNA4 # INTERACTION KCNA4_HUMAN Q62936 Dlg3 (xeno); NbExp=4; IntAct=EBI-631235, EBI-349596; P78352 DLG4; NbExp=2; IntAct=EBI-631235, EBI-80389; P31016 Dlg4 (xeno); NbExp=3; IntAct=EBI-631235, EBI-375655; P21673 SAT1; NbExp=3; IntAct=EBI-631235, EBI-711613; # IntAct P22459 6 # InterPro IPR000210 BTB/POZ_dom # InterPro IPR003131 T1-type_BTB # InterPro IPR003968 K_chnl_volt-dep_Kv # InterPro IPR003972 K_chnl_volt-dep_Kv1 # InterPro IPR005821 Ion_trans_dom # InterPro IPR011333 SKP1/BTB/POZ # InterPro IPR012897 K_chnl_volt-dep_Kv1.4_TID # InterPro IPR020467 K_chnl_volt-dep_Kv1.4 # InterPro IPR027359 Channel_four-helix_dom # InterPro IPR028325 VG_K_chnl # KEGG_Brite ko04040 Ion channels # MIM 176266 gene # Organism KCNA4_HUMAN Homo sapiens (Human) # PANTHER PTHR11537 PTHR11537 # PIR A39922 A39922 # PRINTS PR00169 KCHANNEL # PRINTS PR01491 KVCHANNEL # PRINTS PR01496 SHAKERCHANEL # PRINTS PR01511 KV14CHANNEL # Pfam PF00520 Ion_trans # Pfam PF02214 BTB_2 # Pfam PF07941 K_channel_TID # Proteomes UP000005640 Chromosome 11 # Reactome R-HSA-1296072 Voltage gated Potassium channels # RecName KCNA4_HUMAN Potassium voltage-gated channel subfamily A member 4 # RefSeq NP_002224 NM_002233.3 # SIMILARITY Belongs to the potassium channel family. A (Shaker) (TC 1.A.1.2) subfamily. Kv1.4/KCNA4 sub-subfamily. {ECO 0000305}. # SMART SM00225 BTB # SUBCELLULAR LOCATION KCNA4_HUMAN Cell membrane {ECO 0000269|PubMed 17156368, ECO 0000269|PubMed 19912772, ECO 0000269|PubMed 19968958, ECO 0000269|PubMed 8495559}; Multi-pass membrane protein {ECO 0000255}. Cell projection, axon {ECO 0000250|UniProtKB P15385}. # SUBUNIT Homotetramer and heterotetramer of potassium channel proteins (By similarity). Interacts with KCNAB1 and KCNAB2 (By similarity). Binds PDZ domains of DLG1, DLG2 and DLG4 (By similarity). Interacts with SIGMAR1 (By similarity). Detected in a complex with KCNA1 (By similarity). Interacts with KCNA2 (By similarity). Part of a complex containing KCNA1, KCNAB1 and LGI1 (By similarity). Interacts (via cytoplasmic N-terminal domain) with KCNRG (PubMed:19968958). {ECO 0000250|UniProtKB:P15385}. # SUPFAM SSF54695 SSF54695 # TISSUE SPECIFICITY Detected in heart ventricle. {ECO:0000269|PubMed 2001794}. # UCSC uc001msk human # eggNOG COG1226 LUCA # eggNOG KOG1545 Eukaryota BLAST swissprot:KCNA4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCNA4_HUMAN BioCyc ZFISH:G66-32799-MONOMER http://biocyc.org/getid?id=ZFISH:G66-32799-MONOMER COXPRESdb 3739 http://coxpresdb.jp/data/gene/3739.shtml CleanEx HS_KCNA4 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNA4 DOI 10.1016/1044-7431(90)90004-N http://dx.doi.org/10.1016/1044-7431(90)90004-N DOI 10.1016/j.bbrc.2009.11.143 http://dx.doi.org/10.1016/j.bbrc.2009.11.143 DOI 10.1038/385272a0 http://dx.doi.org/10.1038/385272a0 DOI 10.1038/nature04632 http://dx.doi.org/10.1038/nature04632 DOI 10.1093/nar/18.23.7160 http://dx.doi.org/10.1093/nar/18.23.7160 DOI 10.1111/j.1460-9568.2006.05186.x http://dx.doi.org/10.1111/j.1460-9568.2006.05186.x DOI 10.1161/01.RES.72.6.1326 http://dx.doi.org/10.1161/01.RES.72.6.1326 DrugBank DB06637 http://www.drugbank.ca/drugs/DB06637 EMBL AC124657 http://www.ebi.ac.uk/ena/data/view/AC124657 EMBL L02751 http://www.ebi.ac.uk/ena/data/view/L02751 EMBL M55514 http://www.ebi.ac.uk/ena/data/view/M55514 EMBL M60450 http://www.ebi.ac.uk/ena/data/view/M60450 Ensembl ENST00000328224 http://www.ensembl.org/id/ENST00000328224 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0008076 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008076 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0030424 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030424 GO_function GO:0005249 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005249 GO_function GO:0030955 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030955 GO_process GO:0006813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006813 GO_process GO:0051260 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051260 GO_process GO:0071805 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071805 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.20.120.350 http://www.cathdb.info/version/latest/superfamily/1.20.120.350 Gene3D 1.20.5.600 http://www.cathdb.info/version/latest/superfamily/1.20.5.600 GeneCards KCNA4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNA4 GeneID 3739 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=3739 GeneTree ENSGT00760000118846 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118846 H-InvDB HIX0036152 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0036152 HGNC HGNC:6222 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6222 HOGENOM HOG000231015 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231015&db=HOGENOM6 HOVERGEN HBG052230 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052230&db=HOVERGEN HPA CAB001977 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB001977 HPA HPA016422 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA016422 InParanoid P22459 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P22459 IntAct P22459 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P22459* InterPro IPR000210 http://www.ebi.ac.uk/interpro/entry/IPR000210 InterPro IPR003131 http://www.ebi.ac.uk/interpro/entry/IPR003131 InterPro IPR003968 http://www.ebi.ac.uk/interpro/entry/IPR003968 InterPro IPR003972 http://www.ebi.ac.uk/interpro/entry/IPR003972 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR011333 http://www.ebi.ac.uk/interpro/entry/IPR011333 InterPro IPR012897 http://www.ebi.ac.uk/interpro/entry/IPR012897 InterPro IPR020467 http://www.ebi.ac.uk/interpro/entry/IPR020467 InterPro IPR027359 http://www.ebi.ac.uk/interpro/entry/IPR027359 InterPro IPR028325 http://www.ebi.ac.uk/interpro/entry/IPR028325 Jabion 3739 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=3739 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:3739 http://www.genome.jp/dbget-bin/www_bget?hsa:3739 KEGG_Orthology KO:K04877 http://www.genome.jp/dbget-bin/www_bget?KO:K04877 MIM 176266 http://www.ncbi.nlm.nih.gov/omim/176266 MINT MINT-200816 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-200816 OMA KKAHHRQ http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=KKAHHRQ OrthoDB EOG091G10NU http://cegg.unige.ch/orthodb/results?searchtext=EOG091G10NU PANTHER PTHR11537 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11537 PRINTS PR00169 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00169 PRINTS PR01491 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01491 PRINTS PR01496 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01496 PRINTS PR01511 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01511 PSORT swissprot:KCNA4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCNA4_HUMAN PSORT-B swissprot:KCNA4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCNA4_HUMAN PSORT2 swissprot:KCNA4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCNA4_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF02214 http://pfam.xfam.org/family/PF02214 Pfam PF07941 http://pfam.xfam.org/family/PF07941 PharmGKB PA207 http://www.pharmgkb.org/do/serve?objId=PA207&objCls=Gene Phobius swissprot:KCNA4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCNA4_HUMAN PhylomeDB P22459 http://phylomedb.org/?seqid=P22459 ProteinModelPortal P22459 http://www.proteinmodelportal.org/query/uniprot/P22459 PubMed 16554811 http://www.ncbi.nlm.nih.gov/pubmed/16554811 PubMed 17156368 http://www.ncbi.nlm.nih.gov/pubmed/17156368 PubMed 19912772 http://www.ncbi.nlm.nih.gov/pubmed/19912772 PubMed 19968958 http://www.ncbi.nlm.nih.gov/pubmed/19968958 PubMed 2001794 http://www.ncbi.nlm.nih.gov/pubmed/2001794 PubMed 2263489 http://www.ncbi.nlm.nih.gov/pubmed/2263489 PubMed 8495559 http://www.ncbi.nlm.nih.gov/pubmed/8495559 PubMed 9000078 http://www.ncbi.nlm.nih.gov/pubmed/9000078 Reactome R-HSA-1296072 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1296072 RefSeq NP_002224 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_002224 SMART SM00225 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00225 SMR P22459 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P22459 STRING 9606.ENSP00000328511 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000328511&targetmode=cogs SUPFAM SSF54695 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF54695 UCSC uc001msk http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001msk&org=rat UniGene Hs.592002 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.592002 UniProtKB KCNA4_HUMAN http://www.uniprot.org/uniprot/KCNA4_HUMAN UniProtKB-AC P22459 http://www.uniprot.org/uniprot/P22459 charge swissprot:KCNA4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCNA4_HUMAN eggNOG COG1226 http://eggnogapi.embl.de/nog_data/html/tree/COG1226 eggNOG KOG1545 http://eggnogapi.embl.de/nog_data/html/tree/KOG1545 epestfind swissprot:KCNA4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCNA4_HUMAN garnier swissprot:KCNA4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCNA4_HUMAN helixturnhelix swissprot:KCNA4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCNA4_HUMAN hmoment swissprot:KCNA4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCNA4_HUMAN iep swissprot:KCNA4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCNA4_HUMAN inforesidue swissprot:KCNA4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCNA4_HUMAN neXtProt NX_P22459 http://www.nextprot.org/db/entry/NX_P22459 octanol swissprot:KCNA4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCNA4_HUMAN pepcoil swissprot:KCNA4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCNA4_HUMAN pepdigest swissprot:KCNA4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCNA4_HUMAN pepinfo swissprot:KCNA4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCNA4_HUMAN pepnet swissprot:KCNA4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCNA4_HUMAN pepstats swissprot:KCNA4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCNA4_HUMAN pepwheel swissprot:KCNA4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCNA4_HUMAN pepwindow swissprot:KCNA4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCNA4_HUMAN sigcleave swissprot:KCNA4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCNA4_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS PANX2_HUMAN Event=Alternative splicing; Named isoforms=3; Name=3; IsoId=Q96RD6-3; Sequence=Displayed; Name=1; IsoId=Q96RD6-1; Sequence=VSP_002677; Name=2; IsoId=Q96RD6-2; Sequence=VSP_039092, VSP_002677; # CCDS CCDS14085 -. [Q96RD6-3] # CCDS CCDS54544 -. [Q96RD6-1] # ChiTaRS PANX2 human # Ensembl ENST00000159647 ENSP00000159647; ENSG00000073150. [Q96RD6-1] # Ensembl ENST00000395842 ENSP00000379183; ENSG00000073150. [Q96RD6-3] # ExpressionAtlas Q96RD6 baseline and differential # FUNCTION PANX2_HUMAN Structural component of the gap junctions and the hemichannels. {ECO 0000250}. # GO_component GO:0005737 cytoplasm; IEA:Ensembl. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005921 gap junction; IEA:UniProtKB-SubCell. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0055077 gap junction hemi-channel activity; ISS:UniProtKB. # GO_process GO:0002931 response to ischemia; IEA:Ensembl. # GO_process GO:0006811 ion transport; IEA:UniProtKB-KW. # GO_process GO:0034214 protein hexamerization; ISS:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # Genevisible Q96RD6 HS # HGNC HGNC:8600 PANX2 # InterPro IPR000990 Innexin # KEGG_Brite ko02000 Transporters # MIM 608421 gene # Organism PANX2_HUMAN Homo sapiens (Human) # PROSITE PS51013 PANNEXIN # Pfam PF00876 Innexin # Proteomes UP000005640 Chromosome 22 # Reactome R-HSA-112303 Electric Transmission Across Gap Junctions # RecName PANX2_HUMAN Pannexin-2 # RefSeq NP_001153772 NM_001160300.1. [Q96RD6-1] # RefSeq NP_443071 NM_052839.3. [Q96RD6-3] # SIMILARITY Belongs to the pannexin family. {ECO:0000255|PROSITE- ProRule PRU00351}. # SUBCELLULAR LOCATION PANX2_HUMAN Cell membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000255|PROSITE-ProRule PRU00351}. Cell junction, gap junction. # SUBUNIT Forms PANX1/PANX2-heteromeric intercellular channels on coexpression in paired Xenopus oocytes. Does not form homomeric channels (By similarity). {ECO 0000250}. # TCDB 1.A.25.2 the gap junction-forming innexin (innexin) family # UCSC uc003bjn human. [Q96RD6-3] # WEB RESOURCE PANX2_HUMAN Name=Wikipedia; Note=Pannexin entry; URL="https //en.wikipedia.org/wiki/Pannexin"; # eggNOG ENOG410IGKS Eukaryota # eggNOG ENOG4110P9D LUCA BLAST swissprot:PANX2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:PANX2_HUMAN COXPRESdb 56666 http://coxpresdb.jp/data/gene/56666.shtml CleanEx HS_PANX2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_PANX2 DOI 10.1016/j.ygeno.2003.09.025 http://dx.doi.org/10.1016/j.ygeno.2003.09.025 DOI 10.1038/990031 http://dx.doi.org/10.1038/990031 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1126/science.1133427 http://dx.doi.org/10.1126/science.1133427 EMBL AF398510 http://www.ebi.ac.uk/ena/data/view/AF398510 EMBL AF398511 http://www.ebi.ac.uk/ena/data/view/AF398511 EMBL AK299910 http://www.ebi.ac.uk/ena/data/view/AK299910 EMBL AL022328 http://www.ebi.ac.uk/ena/data/view/AL022328 Ensembl ENST00000159647 http://www.ensembl.org/id/ENST00000159647 Ensembl ENST00000395842 http://www.ensembl.org/id/ENST00000395842 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005921 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005921 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0055077 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055077 GO_process GO:0002931 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002931 GO_process GO:0006811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006811 GO_process GO:0034214 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034214 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GeneCards PANX2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=PANX2 GeneID 56666 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=56666 GeneTree ENSGT00390000009703 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000009703 H-InvDB HIX0016605 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0016605 HGNC HGNC:8600 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:8600 HOGENOM HOG000082414 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000082414&db=HOGENOM6 HOVERGEN HBG053498 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG053498&db=HOVERGEN HPA HPA039117 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA039117 InParanoid Q96RD6 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q96RD6 IntAct Q96RD6 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q96RD6* InterPro IPR000990 http://www.ebi.ac.uk/interpro/entry/IPR000990 Jabion 56666 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=56666 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Gene hsa:56666 http://www.genome.jp/dbget-bin/www_bget?hsa:56666 KEGG_Orthology KO:K03443 http://www.genome.jp/dbget-bin/www_bget?KO:K03443 MIM 608421 http://www.ncbi.nlm.nih.gov/omim/608421 OMA RAAHHYK http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=RAAHHYK OrthoDB EOG091G086D http://cegg.unige.ch/orthodb/results?searchtext=EOG091G086D PROSITE PS51013 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51013 PSORT swissprot:PANX2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:PANX2_HUMAN PSORT-B swissprot:PANX2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:PANX2_HUMAN PSORT2 swissprot:PANX2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:PANX2_HUMAN Pfam PF00876 http://pfam.xfam.org/family/PF00876 PharmGKB PA32930 http://www.pharmgkb.org/do/serve?objId=PA32930&objCls=Gene Phobius swissprot:PANX2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:PANX2_HUMAN PhylomeDB Q96RD6 http://phylomedb.org/?seqid=Q96RD6 ProteinModelPortal Q96RD6 http://www.proteinmodelportal.org/query/uniprot/Q96RD6 PubMed 10591208 http://www.ncbi.nlm.nih.gov/pubmed/10591208 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15028292 http://www.ncbi.nlm.nih.gov/pubmed/15028292 PubMed 16959974 http://www.ncbi.nlm.nih.gov/pubmed/16959974 Reactome R-HSA-112303 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-112303 RefSeq NP_001153772 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001153772 RefSeq NP_443071 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_443071 STRING 9606.ENSP00000379183 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000379183&targetmode=cogs TCDB 1.A.25.2 http://www.tcdb.org/search/result.php?tc=1.A.25.2 UCSC uc003bjn http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003bjn&org=rat UniGene Hs.440092 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.440092 UniProtKB PANX2_HUMAN http://www.uniprot.org/uniprot/PANX2_HUMAN UniProtKB-AC Q96RD6 http://www.uniprot.org/uniprot/Q96RD6 charge swissprot:PANX2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:PANX2_HUMAN eggNOG ENOG410IGKS http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IGKS eggNOG ENOG4110P9D http://eggnogapi.embl.de/nog_data/html/tree/ENOG4110P9D epestfind swissprot:PANX2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:PANX2_HUMAN garnier swissprot:PANX2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:PANX2_HUMAN helixturnhelix swissprot:PANX2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:PANX2_HUMAN hmoment swissprot:PANX2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:PANX2_HUMAN iep swissprot:PANX2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:PANX2_HUMAN inforesidue swissprot:PANX2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:PANX2_HUMAN neXtProt NX_Q96RD6 http://www.nextprot.org/db/entry/NX_Q96RD6 octanol swissprot:PANX2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:PANX2_HUMAN pepcoil swissprot:PANX2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:PANX2_HUMAN pepdigest swissprot:PANX2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:PANX2_HUMAN pepinfo swissprot:PANX2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:PANX2_HUMAN pepnet swissprot:PANX2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:PANX2_HUMAN pepstats swissprot:PANX2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:PANX2_HUMAN pepwheel swissprot:PANX2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:PANX2_HUMAN pepwindow swissprot:PANX2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:PANX2_HUMAN sigcleave swissprot:PANX2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:PANX2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS 5HT3D_HUMAN Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q70Z44-1; Sequence=Displayed; Name=2; IsoId=Q70Z44-2; Sequence=VSP_029798, VSP_029799, VSP_029801; Name=3; IsoId=Q70Z44-3; Sequence=VSP_029797, VSP_029800, VSP_029801; Name=4; IsoId=Q70Z44-4; Sequence=VSP_044828, VSP_044829, VSP_044830, VSP_029801; Note=No experimental confirmation available.; # AltName 5HT3D_HUMAN Serotonin receptor 3D # BioGrid 128355 3 # CCDS CCDS3249 -. [Q70Z44-2] # CCDS CCDS46966 -. [Q70Z44-4] # CCDS CCDS54685 -. [Q70Z44-1] # DrugBank DB00898 Ethanol # DrugBank DB01049 Ergoloid mesylate # Ensembl ENST00000382489 ENSP00000371929; ENSG00000186090. [Q70Z44-1] # Ensembl ENST00000428798 ENSP00000405409; ENSG00000186090. [Q70Z44-4] # Ensembl ENST00000453435 ENSP00000389268; ENSG00000186090. [Q70Z44-3] # ExpressionAtlas Q70Z44 baseline and differential # FUNCTION 5HT3D_HUMAN This is one of the several different receptors for 5- hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor is a ligand-gated ion channel, which when activated causes fast, depolarizing responses. It is a cation-specific, but otherwise relatively nonselective, ion channel. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0004993 G-protein coupled serotonin receptor activity; IDA:CACAO. # GO_function GO:0005232 serotonin-activated cation-selective channel activity; IBA:GO_Central. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.20.120.370 -; 1. # Gene3D 2.70.170.10 -; 1. # HGNC HGNC:24004 HTR3D # INTERACTION 5HT3D_HUMAN P46098 HTR3A; NbExp=5; IntAct=EBI-9008717, EBI-9008743; # InterPro IPR006029 Neurotrans-gated_channel_TM # InterPro IPR006201 Neur_channel # InterPro IPR006202 Neur_chan_lig-bd # InterPro IPR027361 Acetylcholine_rcpt_TM # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04726 Serotonergic synapse # MIM 610122 gene # Organism 5HT3D_HUMAN Homo sapiens (Human) # PANTHER PTHR18945 PTHR18945 # Pfam PF02931 Neur_chan_LBD # Pfam PF02932 Neur_chan_memb # Proteomes UP000005640 Chromosome 3 # Reactome R-HSA-975298 Ligand-gated ion channel transport # RecName 5HT3D_HUMAN 5-hydroxytryptamine receptor 3D # RefSeq NP_001138615 NM_001145143.1. [Q70Z44-4] # RefSeq NP_001157118 NM_001163646.1. [Q70Z44-1] # RefSeq NP_872343 NM_182537.2 # RefSeq XP_016861343 XM_017005854.1. [Q70Z44-3] # SIMILARITY Belongs to the ligand-gated ion channel (TC 1.A.9) family. 5-hydroxytryptamine receptor (TC 1.A.9.2) subfamily. HTR3D sub-subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION 5HT3D_HUMAN Cell membrane {ECO 0000269|PubMed 17392525}; Multi-pass membrane protein {ECO 0000269|PubMed 17392525}. Note=Presumably retained within the endoplasmic reticulum unless complexed with HTR3A. # SUBUNIT Forms a pentaheteromeric complex with HTR3A. Not functional as a homomeric complex. {ECO:0000269|PubMed 17392525}. # SUPFAM SSF63712 SSF63712 # SUPFAM SSF90112 SSF90112 # TCDB 1.A.9.2 the neurotransmitter receptor, cys loop, ligand-gated ion channel (lic) family # TISSUE SPECIFICITY Expressed in liver, as well as fetal and adult colon and kidney. {ECO:0000269|PubMed 12801637}. # UCSC uc010hxp human. [Q70Z44-1] # eggNOG ENOG410XQGR LUCA # eggNOG KOG3645 Eukaryota BLAST swissprot:5HT3D_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:5HT3D_HUMAN BioCyc ZFISH:G66-32385-MONOMER http://biocyc.org/getid?id=ZFISH:G66-32385-MONOMER COXPRESdb 200909 http://coxpresdb.jp/data/gene/200909.shtml CleanEx HS_HTR3D http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_HTR3D DOI 10.1016/S0378-1119(03)00503-1 http://dx.doi.org/10.1016/S0378-1119(03)00503-1 DOI 10.1038/nature04728 http://dx.doi.org/10.1038/nature04728 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1124/mol.106.032144 http://dx.doi.org/10.1124/mol.106.032144 DrugBank DB00898 http://www.drugbank.ca/drugs/DB00898 DrugBank DB01049 http://www.drugbank.ca/drugs/DB01049 EMBL AC068644 http://www.ebi.ac.uk/ena/data/view/AC068644 EMBL AC131235 http://www.ebi.ac.uk/ena/data/view/AC131235 EMBL AJ437318 http://www.ebi.ac.uk/ena/data/view/AJ437318 EMBL AY159812 http://www.ebi.ac.uk/ena/data/view/AY159812 EMBL BC101090 http://www.ebi.ac.uk/ena/data/view/BC101090 EMBL BC101091 http://www.ebi.ac.uk/ena/data/view/BC101091 Ensembl ENST00000382489 http://www.ensembl.org/id/ENST00000382489 Ensembl ENST00000428798 http://www.ensembl.org/id/ENST00000428798 Ensembl ENST00000453435 http://www.ensembl.org/id/ENST00000453435 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0004993 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004993 GO_function GO:0005232 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005232 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.20.120.370 http://www.cathdb.info/version/latest/superfamily/1.20.120.370 Gene3D 2.70.170.10 http://www.cathdb.info/version/latest/superfamily/2.70.170.10 GeneCards HTR3D http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=HTR3D GeneID 200909 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=200909 GeneTree ENSGT00790000122957 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00790000122957 HGNC HGNC:24004 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:24004 HOGENOM HOG000241519 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000241519&db=HOGENOM6 HOVERGEN HBG106638 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG106638&db=HOVERGEN InParanoid Q70Z44 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q70Z44 IntAct Q70Z44 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q70Z44* InterPro IPR006029 http://www.ebi.ac.uk/interpro/entry/IPR006029 InterPro IPR006201 http://www.ebi.ac.uk/interpro/entry/IPR006201 InterPro IPR006202 http://www.ebi.ac.uk/interpro/entry/IPR006202 InterPro IPR027361 http://www.ebi.ac.uk/interpro/entry/IPR027361 Jabion 200909 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=200909 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:200909 http://www.genome.jp/dbget-bin/www_bget?hsa:200909 KEGG_Orthology KO:K04819 http://www.genome.jp/dbget-bin/www_bget?KO:K04819 KEGG_Pathway ko04726 http://www.genome.jp/kegg-bin/show_pathway?ko04726 MIM 610122 http://www.ncbi.nlm.nih.gov/omim/610122 OMA FRAREWV http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=FRAREWV OrthoDB EOG091G0DE5 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0DE5 PANTHER PTHR18945 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR18945 PSORT swissprot:5HT3D_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:5HT3D_HUMAN PSORT-B swissprot:5HT3D_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:5HT3D_HUMAN PSORT2 swissprot:5HT3D_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:5HT3D_HUMAN Pfam PF02931 http://pfam.xfam.org/family/PF02931 Pfam PF02932 http://pfam.xfam.org/family/PF02932 PharmGKB PA134866755 http://www.pharmgkb.org/do/serve?objId=PA134866755&objCls=Gene Phobius swissprot:5HT3D_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:5HT3D_HUMAN PhylomeDB Q70Z44 http://phylomedb.org/?seqid=Q70Z44 ProteinModelPortal Q70Z44 http://www.proteinmodelportal.org/query/uniprot/Q70Z44 PubMed 12801637 http://www.ncbi.nlm.nih.gov/pubmed/12801637 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16641997 http://www.ncbi.nlm.nih.gov/pubmed/16641997 PubMed 17392525 http://www.ncbi.nlm.nih.gov/pubmed/17392525 Reactome R-HSA-975298 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-975298 RefSeq NP_001138615 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001138615 RefSeq NP_001157118 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001157118 RefSeq NP_872343 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_872343 RefSeq XP_016861343 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016861343 STRING 9606.ENSP00000371929 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000371929&targetmode=cogs SUPFAM SSF63712 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF63712 SUPFAM SSF90112 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF90112 TCDB 1.A.9.2 http://www.tcdb.org/search/result.php?tc=1.A.9.2 UCSC uc010hxp http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc010hxp&org=rat UniGene Hs.448004 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.448004 UniProtKB 5HT3D_HUMAN http://www.uniprot.org/uniprot/5HT3D_HUMAN UniProtKB-AC Q70Z44 http://www.uniprot.org/uniprot/Q70Z44 charge swissprot:5HT3D_HUMAN http://rest.g-language.org/emboss/charge/swissprot:5HT3D_HUMAN eggNOG ENOG410XQGR http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XQGR eggNOG KOG3645 http://eggnogapi.embl.de/nog_data/html/tree/KOG3645 epestfind swissprot:5HT3D_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:5HT3D_HUMAN garnier swissprot:5HT3D_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:5HT3D_HUMAN helixturnhelix swissprot:5HT3D_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:5HT3D_HUMAN hmoment swissprot:5HT3D_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:5HT3D_HUMAN iep swissprot:5HT3D_HUMAN http://rest.g-language.org/emboss/iep/swissprot:5HT3D_HUMAN inforesidue swissprot:5HT3D_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:5HT3D_HUMAN neXtProt NX_Q70Z44 http://www.nextprot.org/db/entry/NX_Q70Z44 octanol swissprot:5HT3D_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:5HT3D_HUMAN pepcoil swissprot:5HT3D_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:5HT3D_HUMAN pepdigest swissprot:5HT3D_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:5HT3D_HUMAN pepinfo swissprot:5HT3D_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:5HT3D_HUMAN pepnet swissprot:5HT3D_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:5HT3D_HUMAN pepstats swissprot:5HT3D_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:5HT3D_HUMAN pepwheel swissprot:5HT3D_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:5HT3D_HUMAN pepwindow swissprot:5HT3D_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:5HT3D_HUMAN sigcleave swissprot:5HT3D_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:5HT3D_HUMAN ## Database ID URL or Descriptions # AltName MOT9_HUMAN Solute carrier family 16 member 9 # BioGrid 128664 4 # CDD cd06174 MFS # ChiTaRS SLC16A9 human # Ensembl ENST00000395347 ENSP00000378756; ENSG00000165449 # Ensembl ENST00000395348 ENSP00000378757; ENSG00000165449 # FUNCTION MOT9_HUMAN Proton-linked monocarboxylate transporter. May catalyze the transport of monocarboxylates across the plasma membrane. {ECO 0000250}. # GO_component GO:0005886 plasma membrane; IEA:UniProtKB-SubCell. # GO_component GO:0016021 integral component of membrane; IBA:GO_Central. # GO_function GO:0008028 monocarboxylic acid transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015293 symporter activity; IEA:UniProtKB-KW. # GO_process GO:0046415 urate metabolic process; IMP:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0044281 small molecule metabolic process # Genevisible Q7RTY1 HS # HGNC HGNC:23520 SLC16A9 # INTERACTION MOT9_HUMAN Q14240 EIF4A2; NbExp=3; IntAct=EBI-10232636, EBI-73473; Q9NSK0 KLC4; NbExp=3; IntAct=EBI-10232636, EBI-949319; Q9Y3B7 MRPL11; NbExp=3; IntAct=EBI-10232636, EBI-5453723; # IntAct Q7RTY1 4 # InterPro IPR011701 MFS # InterPro IPR020846 MFS_dom # InterPro IPR030767 MCT9 # KEGG_Brite ko02000 Transporters # KEGG_Brite ko02001 Solute carrier family # Organism MOT9_HUMAN Homo sapiens (Human) # PANTHER PTHR11360:SF158 PTHR11360:SF158; 2 # PIR T34552 T34552 # PROSITE PS50850 MFS # Pfam PF07690 MFS_1 # Proteomes UP000005640 Chromosome 10 # RecName MOT9_HUMAN Monocarboxylate transporter 9 # RefSeq NP_001310910 NM_001323981.1 # RefSeq NP_919274 NM_194298.2 # RefSeq XP_016871373 XM_017015884.1 # SEQUENCE CAUTION Sequence=BAD18743.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the major facilitator superfamily. Monocarboxylate porter (TC 2.A.1.13) family. {ECO 0000305}. # SUBCELLULAR LOCATION MOT9_HUMAN Cell membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. # SUPFAM SSF103473 SSF103473; 2 # TCDB 2.A.1.13.16 the major facilitator superfamily (mfs) # UCSC uc010qig human # eggNOG COG0477 LUCA # eggNOG KOG2504 Eukaryota BLAST swissprot:MOT9_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:MOT9_HUMAN COXPRESdb 220963 http://coxpresdb.jp/data/gene/220963.shtml CleanEx HS_SLC16A9 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC16A9 DOI 10.1007/s00424-003-1067-2 http://dx.doi.org/10.1007/s00424-003-1067-2 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 EMBL AK125791 http://www.ebi.ac.uk/ena/data/view/AK125791 EMBL AK172758 http://www.ebi.ac.uk/ena/data/view/AK172758 EMBL AL122071 http://www.ebi.ac.uk/ena/data/view/AL122071 EMBL BC126238 http://www.ebi.ac.uk/ena/data/view/BC126238 EMBL BC130567 http://www.ebi.ac.uk/ena/data/view/BC130567 EMBL BN000144 http://www.ebi.ac.uk/ena/data/view/BN000144 Ensembl ENST00000395347 http://www.ensembl.org/id/ENST00000395347 Ensembl ENST00000395348 http://www.ensembl.org/id/ENST00000395348 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0008028 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008028 GO_function GO:0015293 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015293 GO_process GO:0046415 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046415 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GeneCards SLC16A9 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC16A9 GeneID 220963 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=220963 GeneTree ENSGT00760000118926 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118926 HGNC HGNC:23520 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:23520 HOGENOM HOG000113632 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000113632&db=HOGENOM6 HOVERGEN HBG097515 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG097515&db=HOVERGEN HPA HPA049286 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA049286 InParanoid Q7RTY1 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q7RTY1 IntAct Q7RTY1 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q7RTY1* InterPro IPR011701 http://www.ebi.ac.uk/interpro/entry/IPR011701 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 InterPro IPR030767 http://www.ebi.ac.uk/interpro/entry/IPR030767 Jabion 220963 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=220963 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:220963 http://www.genome.jp/dbget-bin/www_bget?hsa:220963 KEGG_Orthology KO:K08186 http://www.genome.jp/dbget-bin/www_bget?KO:K08186 OMA EEEFIMP http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=EEEFIMP OrthoDB EOG091G04XL http://cegg.unige.ch/orthodb/results?searchtext=EOG091G04XL PANTHER PTHR11360:SF158 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11360:SF158 PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PSORT swissprot:MOT9_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:MOT9_HUMAN PSORT-B swissprot:MOT9_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:MOT9_HUMAN PSORT2 swissprot:MOT9_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:MOT9_HUMAN Pfam PF07690 http://pfam.xfam.org/family/PF07690 PharmGKB PA134991247 http://www.pharmgkb.org/do/serve?objId=PA134991247&objCls=Gene Phobius swissprot:MOT9_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:MOT9_HUMAN PhylomeDB Q7RTY1 http://phylomedb.org/?seqid=Q7RTY1 ProteinModelPortal Q7RTY1 http://www.proteinmodelportal.org/query/uniprot/Q7RTY1 PubMed 12739169 http://www.ncbi.nlm.nih.gov/pubmed/12739169 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 RefSeq NP_001310910 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001310910 RefSeq NP_919274 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_919274 RefSeq XP_016871373 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016871373 STRING 9606.ENSP00000378756 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000378756&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.1.13.16 http://www.tcdb.org/search/result.php?tc=2.A.1.13.16 UCSC uc010qig http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc010qig&org=rat UniGene Hs.499709 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.499709 UniProtKB MOT9_HUMAN http://www.uniprot.org/uniprot/MOT9_HUMAN UniProtKB-AC Q7RTY1 http://www.uniprot.org/uniprot/Q7RTY1 charge swissprot:MOT9_HUMAN http://rest.g-language.org/emboss/charge/swissprot:MOT9_HUMAN eggNOG COG0477 http://eggnogapi.embl.de/nog_data/html/tree/COG0477 eggNOG KOG2504 http://eggnogapi.embl.de/nog_data/html/tree/KOG2504 epestfind swissprot:MOT9_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:MOT9_HUMAN garnier swissprot:MOT9_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:MOT9_HUMAN helixturnhelix swissprot:MOT9_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:MOT9_HUMAN hmoment swissprot:MOT9_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:MOT9_HUMAN iep swissprot:MOT9_HUMAN http://rest.g-language.org/emboss/iep/swissprot:MOT9_HUMAN inforesidue swissprot:MOT9_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:MOT9_HUMAN neXtProt NX_Q7RTY1 http://www.nextprot.org/db/entry/NX_Q7RTY1 octanol swissprot:MOT9_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:MOT9_HUMAN pepcoil swissprot:MOT9_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:MOT9_HUMAN pepdigest swissprot:MOT9_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:MOT9_HUMAN pepinfo swissprot:MOT9_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:MOT9_HUMAN pepnet swissprot:MOT9_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:MOT9_HUMAN pepstats swissprot:MOT9_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:MOT9_HUMAN pepwheel swissprot:MOT9_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:MOT9_HUMAN pepwindow swissprot:MOT9_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:MOT9_HUMAN sigcleave swissprot:MOT9_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:MOT9_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS CAHM2_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9HA72-1; Sequence=Displayed; Name=2; IsoId=Q9HA72-2; Sequence=VSP_013853, VSP_013854; Note=No experimental confirmation available.; Name=3; IsoId=Q9HA72-3; Sequence=VSP_013856, VSP_013855; Note=No experimental confirmation available.; # AltName CAHM2_HUMAN Protein FAM26B # CCDS CCDS7549 -. [Q9HA72-1] # ChiTaRS CALHM2 human # Ensembl ENST00000260743 ENSP00000260743; ENSG00000138172. [Q9HA72-1] # Ensembl ENST00000369788 ENSP00000358803; ENSG00000138172. [Q9HA72-1] # FUNCTION CAHM2_HUMAN Pore-forming subunit of a voltage-gated ion channel. {ECO 0000250}. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_function GO:0005261 cation channel activity; IBA:GO_Central. # GO_process GO:0034220 ion transmembrane transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0055085 transmembrane transport # Genevisible Q9HA72 HS # HGNC HGNC:23493 CALHM2 # InterPro IPR029569 FAM26 # InterPro IPR029570 CALHM2 # MIM 612235 gene # Organism CAHM2_HUMAN Homo sapiens (Human) # PANTHER PTHR32261 PTHR32261 # PANTHER PTHR32261:SF3 PTHR32261:SF3 # Pfam PF14798 Ca_hom_mod # Proteomes UP000005640 Chromosome 10 # RecName CAHM2_HUMAN Calcium homeostasis modulator protein 2 # RefSeq NP_057000 NM_015916.4. [Q9HA72-1] # RefSeq XP_006717943 XM_006717880.2. [Q9HA72-1] # RefSeq XP_006717946 XM_006717883.2. [Q9HA72-1] # RefSeq XP_006717947 XM_006717884.3. [Q9HA72-3] # RefSeq XP_011538150 XM_011539848.2. [Q9HA72-1] # RefSeq XP_016871795 XM_017016306.1. [Q9HA72-1] # RefSeq XP_016871796 XM_017016307.1. [Q9HA72-1] # RefSeq XP_016871797 XM_017016308.1. [Q9HA72-3] # RefSeq XP_016871798 XM_017016309.1. [Q9HA72-3] # SIMILARITY Belongs to the FAM26 family. {ECO 0000305}. # SUBCELLULAR LOCATION CAHM2_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # TCDB 1.A.84.1 the calcium homeostasis modulator ca(2+) channel (calhm-c) family # UCSC uc001kxa human. [Q9HA72-1] # eggNOG ENOG410IJ7Y Eukaryota # eggNOG ENOG410XQ8H LUCA BLAST swissprot:CAHM2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CAHM2_HUMAN COXPRESdb 51063 http://coxpresdb.jp/data/gene/51063.shtml CleanEx HS_CALHM2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CALHM2 DOI 10.1016/j.cell.2008.05.048 http://dx.doi.org/10.1016/j.cell.2008.05.048 DOI 10.1038/nature02462 http://dx.doi.org/10.1038/nature02462 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AF131810 http://www.ebi.ac.uk/ena/data/view/AF131810 EMBL AK022195 http://www.ebi.ac.uk/ena/data/view/AK022195 EMBL AK125276 http://www.ebi.ac.uk/ena/data/view/AK125276 EMBL AL139339 http://www.ebi.ac.uk/ena/data/view/AL139339 EMBL BC000039 http://www.ebi.ac.uk/ena/data/view/BC000039 EMBL CH471066 http://www.ebi.ac.uk/ena/data/view/CH471066 EMBL CH471066 http://www.ebi.ac.uk/ena/data/view/CH471066 EMBL CH471066 http://www.ebi.ac.uk/ena/data/view/CH471066 EMBL CH471066 http://www.ebi.ac.uk/ena/data/view/CH471066 EMBL CH471066 http://www.ebi.ac.uk/ena/data/view/CH471066 Ensembl ENST00000260743 http://www.ensembl.org/id/ENST00000260743 Ensembl ENST00000369788 http://www.ensembl.org/id/ENST00000369788 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0005261 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005261 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards CALHM2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CALHM2 GeneID 51063 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=51063 GeneTree ENSGT00530000062796 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000062796 HGNC HGNC:23493 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:23493 HOGENOM HOG000294134 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000294134&db=HOGENOM6 HOVERGEN HBG057802 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG057802&db=HOVERGEN HPA HPA014706 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA014706 InParanoid Q9HA72 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9HA72 InterPro IPR029569 http://www.ebi.ac.uk/interpro/entry/IPR029569 InterPro IPR029570 http://www.ebi.ac.uk/interpro/entry/IPR029570 Jabion 51063 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=51063 KEGG_Gene hsa:51063 http://www.genome.jp/dbget-bin/www_bget?hsa:51063 MIM 612235 http://www.ncbi.nlm.nih.gov/omim/612235 OMA SAAPNFL http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=SAAPNFL OrthoDB EOG091G0BN1 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0BN1 PANTHER PTHR32261 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR32261 PANTHER PTHR32261:SF3 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR32261:SF3 PSORT swissprot:CAHM2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CAHM2_HUMAN PSORT-B swissprot:CAHM2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CAHM2_HUMAN PSORT2 swissprot:CAHM2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CAHM2_HUMAN Pfam PF14798 http://pfam.xfam.org/family/PF14798 PharmGKB PA162380963 http://www.pharmgkb.org/do/serve?objId=PA162380963&objCls=Gene Phobius swissprot:CAHM2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CAHM2_HUMAN PhylomeDB Q9HA72 http://phylomedb.org/?seqid=Q9HA72 ProteinModelPortal Q9HA72 http://www.proteinmodelportal.org/query/uniprot/Q9HA72 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15164054 http://www.ncbi.nlm.nih.gov/pubmed/15164054 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 18585350 http://www.ncbi.nlm.nih.gov/pubmed/18585350 RefSeq NP_057000 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_057000 RefSeq XP_006717943 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006717943 RefSeq XP_006717946 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006717946 RefSeq XP_006717947 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006717947 RefSeq XP_011538150 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011538150 RefSeq XP_016871795 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016871795 RefSeq XP_016871796 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016871796 RefSeq XP_016871797 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016871797 RefSeq XP_016871798 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016871798 STRING 9606.ENSP00000260743 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000260743&targetmode=cogs TCDB 1.A.84.1 http://www.tcdb.org/search/result.php?tc=1.A.84.1 UCSC uc001kxa http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001kxa&org=rat UniGene Hs.241545 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.241545 UniProtKB CAHM2_HUMAN http://www.uniprot.org/uniprot/CAHM2_HUMAN UniProtKB-AC Q9HA72 http://www.uniprot.org/uniprot/Q9HA72 charge swissprot:CAHM2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CAHM2_HUMAN eggNOG ENOG410IJ7Y http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IJ7Y eggNOG ENOG410XQ8H http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XQ8H epestfind swissprot:CAHM2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CAHM2_HUMAN garnier swissprot:CAHM2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CAHM2_HUMAN helixturnhelix swissprot:CAHM2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CAHM2_HUMAN hmoment swissprot:CAHM2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CAHM2_HUMAN iep swissprot:CAHM2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CAHM2_HUMAN inforesidue swissprot:CAHM2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CAHM2_HUMAN neXtProt NX_Q9HA72 http://www.nextprot.org/db/entry/NX_Q9HA72 octanol swissprot:CAHM2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CAHM2_HUMAN pepcoil swissprot:CAHM2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CAHM2_HUMAN pepdigest swissprot:CAHM2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CAHM2_HUMAN pepinfo swissprot:CAHM2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CAHM2_HUMAN pepnet swissprot:CAHM2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CAHM2_HUMAN pepstats swissprot:CAHM2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CAHM2_HUMAN pepwheel swissprot:CAHM2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CAHM2_HUMAN pepwindow swissprot:CAHM2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CAHM2_HUMAN sigcleave swissprot:CAHM2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CAHM2_HUMAN ## Database ID URL or Descriptions # BioGrid 117724 25 # ChiTaRS TIMM9 human # DOMAIN TIM9_HUMAN The twin CX3C motif contains 4 conserved Cys residues that form 2 disulfide bonds in the mitochondrial intermembrane space. However, during the transit of TIMM9 from cytoplasm into mitochondrion, the Cys residues probably coordinate zinc, thereby preventing folding and allowing its transfer across mitochondrial outer membrane (Probable). {ECO 0000305}. # Ensembl ENST00000395159 ENSP00000378588; ENSG00000100575 # Ensembl ENST00000555061 ENSP00000450638; ENSG00000100575 # Ensembl ENST00000555404 ENSP00000451198; ENSG00000100575 # Ensembl ENST00000555593 ENSP00000451006; ENSG00000100575 # ExpressionAtlas Q9Y5J7 baseline and differential # FUNCTION TIM9_HUMAN Mitochondrial intermembrane chaperone that participates in the import and insertion of multi-pass transmembrane proteins into the mitochondrial inner membrane. May also be required for the transfer of beta-barrel precursors from the TOM complex to the sorting and assembly machinery (SAM complex) of the outer membrane. Acts as a chaperone-like protein that protects the hydrophobic precursors from aggregation and guide them through the mitochondrial intermembrane space. {ECO 0000269|PubMed 14726512}. # GO_component GO:0005739 mitochondrion; IDA:HPA. # GO_component GO:0005743 mitochondrial inner membrane; IDA:BHF-UCL. # GO_component GO:0005758 mitochondrial intermembrane space; TAS:BHF-UCL. # GO_component GO:0042719 mitochondrial intermembrane space protein transporter complex; IDA:BHF-UCL. # GO_component GO:0042721 mitochondrial inner membrane protein insertion complex; IBA:GO_Central. # GO_function GO:0005215 transporter activity; IDA:BHF-UCL. # GO_function GO:0008270 zinc ion binding; TAS:ProtInc. # GO_function GO:0008565 protein transporter activity; IBA:GO_Central. # GO_function GO:0042803 protein homodimerization activity; IPI:BHF-UCL. # GO_function GO:0051087 chaperone binding; IPI:BHF-UCL. # GO_process GO:0006626 protein targeting to mitochondrion; TAS:Reactome. # GO_process GO:0007605 sensory perception of sound; TAS:ProtInc. # GO_process GO:0045039 protein import into mitochondrial inner membrane; IDA:BHF-UCL. # GO_process GO:0072321 chaperone-mediated protein transport; IDA:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005739 mitochondrion # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0008565 protein transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006605 protein targeting # GOslim_process GO:0006810 transport # GOslim_process GO:0007005 mitochondrion organization # GOslim_process GO:0050877 neurological system process # GOslim_process GO:0055085 transmembrane transport # GOslim_process GO:0061024 membrane organization # Gene3D 1.10.287.810 -; 1. # Genevisible Q9Y5J7 HS # HGNC HGNC:11819 TIMM9 # INTERACTION TIM9_HUMAN P62072 TIMM10; NbExp=4; IntAct=EBI-1200370, EBI-1200391; # IntAct Q9Y5J7 5 # InterPro IPR004217 Tim10/DDP_fam_Znf # MIM 607384 gene # Organism TIM9_HUMAN Homo sapiens (Human) # PDB 2BSK X-ray; 3.30 A; A/C/E=1-89 # PIR T51191 T51191 # Pfam PF02953 zf-Tim10_DDP # Proteomes UP000005640 Chromosome 14 # Reactome R-HSA-1268020 Mitochondrial protein import # RecName TIM9_HUMAN Mitochondrial import inner membrane translocase subunit Tim9 # RefSeq NP_001291414 NM_001304485.1 # RefSeq NP_001291415 NM_001304486.1 # RefSeq NP_001291416 NM_001304487.1 # RefSeq NP_001291417 NM_001304488.1 # RefSeq NP_001291418 NM_001304489.1 # RefSeq NP_001291419 NM_001304490.1 # RefSeq NP_001291420 NM_001304491.1 # RefSeq NP_036592 NM_012460.3 # SIMILARITY Belongs to the small Tim family. {ECO 0000305}. # SUBCELLULAR LOCATION TIM9_HUMAN Mitochondrion inner membrane {ECO 0000269|PubMed 11489896, ECO 0000269|PubMed 14726512}; Peripheral membrane protein {ECO 0000269|PubMed 11489896, ECO 0000269|PubMed 14726512}; Intermembrane side {ECO 0000269|PubMed 11489896, ECO 0000269|PubMed 14726512}. # SUBUNIT TIM9_HUMAN Heterohexamer; composed of 3 copies of TIMM9 and 3 copies of TIMM10/TIM10A, named soluble 70 kDa complex. The complex forms a 6-bladed alpha-propeller structure and associates with the TIMM22 component of the TIM22 complex. Interacts with multi-pass transmembrane proteins in transit. Also forms a complex composed of TIMM9, TIMM10/TIM10A and FXC1/TIM10B. {ECO 0000269|PubMed 14726512, ECO 0000269|PubMed 16387659}. # SUPFAM SSF144122 SSF144122 # TISSUE SPECIFICITY TIM9_HUMAN Ubiquitous, with highest expression in heart, kidney, liver and skeletal muscle. {ECO 0000269|PubMed 10552927, ECO 0000269|PubMed 10611480}. # UCSC uc001xds human # eggNOG ENOG4111TUA LUCA # eggNOG KOG3479 Eukaryota BLAST swissprot:TIM9_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:TIM9_HUMAN BioCyc ZFISH:ENSG00000100575-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000100575-MONOMER COXPRESdb 26520 http://coxpresdb.jp/data/gene/26520.shtml CleanEx HS_TIMM9 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_TIMM9 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1006/geno.1999.5966 http://dx.doi.org/10.1006/geno.1999.5966 DOI 10.1016/S0014-5793(99)01665-8 http://dx.doi.org/10.1016/S0014-5793(99)01665-8 DOI 10.1016/j.molcel.2005.11.010 http://dx.doi.org/10.1016/j.molcel.2005.11.010 DOI 10.1021/ac9004309 http://dx.doi.org/10.1021/ac9004309 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.M105313200 http://dx.doi.org/10.1074/jbc.M105313200 DOI 10.1074/jbc.M312485200 http://dx.doi.org/10.1074/jbc.M312485200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AF150100 http://www.ebi.ac.uk/ena/data/view/AF150100 EMBL AF152353 http://www.ebi.ac.uk/ena/data/view/AF152353 EMBL AK312095 http://www.ebi.ac.uk/ena/data/view/AK312095 EMBL BC020213 http://www.ebi.ac.uk/ena/data/view/BC020213 EMBL BC054875 http://www.ebi.ac.uk/ena/data/view/BC054875 EMBL CH471061 http://www.ebi.ac.uk/ena/data/view/CH471061 Ensembl ENST00000395159 http://www.ensembl.org/id/ENST00000395159 Ensembl ENST00000555061 http://www.ensembl.org/id/ENST00000555061 Ensembl ENST00000555404 http://www.ensembl.org/id/ENST00000555404 Ensembl ENST00000555593 http://www.ensembl.org/id/ENST00000555593 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0005758 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005758 GO_component GO:0042719 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042719 GO_component GO:0042721 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042721 GO_function GO:0005215 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005215 GO_function GO:0008270 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008270 GO_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GO_function GO:0042803 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042803 GO_function GO:0051087 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051087 GO_process GO:0006626 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006626 GO_process GO:0007605 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007605 GO_process GO:0045039 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045039 GO_process GO:0072321 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0072321 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006605 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006605 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007005 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007005 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GOslim_process GO:0061024 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061024 Gene3D 1.10.287.810 http://www.cathdb.info/version/latest/superfamily/1.10.287.810 GeneCards TIMM9 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=TIMM9 GeneID 26520 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=26520 GeneTree ENSGT00450000040278 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00450000040278 HGNC HGNC:11819 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11819 HOVERGEN HBG083156 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG083156&db=HOVERGEN HPA HPA002932 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA002932 InParanoid Q9Y5J7 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9Y5J7 IntAct Q9Y5J7 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9Y5J7* InterPro IPR004217 http://www.ebi.ac.uk/interpro/entry/IPR004217 Jabion 26520 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=26520 KEGG_Gene hsa:26520 http://www.genome.jp/dbget-bin/www_bget?hsa:26520 MIM 607384 http://www.ncbi.nlm.nih.gov/omim/607384 OMA SNLVERC http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=SNLVERC OrthoDB EOG091G10NM http://cegg.unige.ch/orthodb/results?searchtext=EOG091G10NM PDB 2BSK http://www.ebi.ac.uk/pdbe-srv/view/entry/2BSK PDBsum 2BSK http://www.ebi.ac.uk/pdbsum/2BSK PSORT swissprot:TIM9_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:TIM9_HUMAN PSORT-B swissprot:TIM9_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:TIM9_HUMAN PSORT2 swissprot:TIM9_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:TIM9_HUMAN Pfam PF02953 http://pfam.xfam.org/family/PF02953 PharmGKB PA36525 http://www.pharmgkb.org/do/serve?objId=PA36525&objCls=Gene Phobius swissprot:TIM9_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:TIM9_HUMAN PhylomeDB Q9Y5J7 http://phylomedb.org/?seqid=Q9Y5J7 ProteinModelPortal Q9Y5J7 http://www.proteinmodelportal.org/query/uniprot/Q9Y5J7 PubMed 10552927 http://www.ncbi.nlm.nih.gov/pubmed/10552927 PubMed 10611480 http://www.ncbi.nlm.nih.gov/pubmed/10611480 PubMed 11489896 http://www.ncbi.nlm.nih.gov/pubmed/11489896 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 14726512 http://www.ncbi.nlm.nih.gov/pubmed/14726512 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16387659 http://www.ncbi.nlm.nih.gov/pubmed/16387659 PubMed 19413330 http://www.ncbi.nlm.nih.gov/pubmed/19413330 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 Reactome R-HSA-1268020 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1268020 RefSeq NP_001291414 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001291414 RefSeq NP_001291415 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001291415 RefSeq NP_001291416 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001291416 RefSeq NP_001291417 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001291417 RefSeq NP_001291418 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001291418 RefSeq NP_001291419 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001291419 RefSeq NP_001291420 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001291420 RefSeq NP_036592 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_036592 SMR Q9Y5J7 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9Y5J7 STRING 9606.ENSP00000378588 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000378588&targetmode=cogs SUPFAM SSF144122 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF144122 UCSC uc001xds http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001xds&org=rat UniGene Hs.440525 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.440525 UniProtKB TIM9_HUMAN http://www.uniprot.org/uniprot/TIM9_HUMAN UniProtKB-AC Q9Y5J7 http://www.uniprot.org/uniprot/Q9Y5J7 charge swissprot:TIM9_HUMAN http://rest.g-language.org/emboss/charge/swissprot:TIM9_HUMAN eggNOG ENOG4111TUA http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111TUA eggNOG KOG3479 http://eggnogapi.embl.de/nog_data/html/tree/KOG3479 epestfind swissprot:TIM9_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:TIM9_HUMAN garnier swissprot:TIM9_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:TIM9_HUMAN helixturnhelix swissprot:TIM9_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:TIM9_HUMAN hmoment swissprot:TIM9_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:TIM9_HUMAN iep swissprot:TIM9_HUMAN http://rest.g-language.org/emboss/iep/swissprot:TIM9_HUMAN inforesidue swissprot:TIM9_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:TIM9_HUMAN neXtProt NX_Q9Y5J7 http://www.nextprot.org/db/entry/NX_Q9Y5J7 octanol swissprot:TIM9_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:TIM9_HUMAN pepcoil swissprot:TIM9_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:TIM9_HUMAN pepdigest swissprot:TIM9_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:TIM9_HUMAN pepinfo swissprot:TIM9_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:TIM9_HUMAN pepnet swissprot:TIM9_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:TIM9_HUMAN pepstats swissprot:TIM9_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:TIM9_HUMAN pepwheel swissprot:TIM9_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:TIM9_HUMAN pepwindow swissprot:TIM9_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:TIM9_HUMAN sigcleave swissprot:TIM9_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:TIM9_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS AT1B3_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P54709-1; Sequence=Displayed; Name=2; IsoId=P54709-2; Sequence=VSP_056686, VSP_056687; Note=No experimental confirmation available.; # AltName AT1B3_HUMAN CD298 # AltName AT1B3_HUMAN Sodium/potassium-dependent ATPase subunit beta-3 # BioGrid 106973 102 # CCDS CCDS3121 -. [P54709-1] # DOMAIN AT1B3_HUMAN The C-terminal lobe folds into an immunoglobulin-like domain and may mediate cell adhesion properties. {ECO 0000250}. # Ensembl ENST00000286371 ENSP00000286371; ENSG00000069849. [P54709-1] # ExpressionAtlas P54709 baseline and differential # FUNCTION AT1B3_HUMAN This is the non-catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of Na(+) and K(+) ions across the plasma membrane. The exact function of the beta-3 subunit is not known. # GO_component AT1B3_HUMAN GO 0005890 sodium potassium-exchanging ATPase complex; IDA BHF-UCL. # GO_component GO:0005886 plasma membrane; IDA:BHF-UCL. # GO_component GO:0005901 caveola; IEA:Ensembl. # GO_component GO:0042470 melanosome; IEA:UniProtKB-SubCell. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function AT1B3_HUMAN GO 0005391 sodium potassium-exchanging ATPase activity; IDA BHF-UCL. # GO_function GO:0001671 ATPase activator activity; IDA:BHF-UCL. # GO_function GO:0051117 ATPase binding; IPI:BHF-UCL. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0006883 cellular sodium ion homeostasis; IDA:BHF-UCL. # GO_process GO:0010107 potassium ion import; IDA:BHF-UCL. # GO_process GO:0030007 cellular potassium ion homeostasis; IDA:BHF-UCL. # GO_process GO:0032781 positive regulation of ATPase activity; IDA:BHF-UCL. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0036376 sodium ion export from cell; IDA:BHF-UCL. # GO_process GO:0050821 protein stabilization; IDA:BHF-UCL. # GO_process GO:0050900 leukocyte migration; TAS:Reactome. # GO_process GO:0072659 protein localization to plasma membrane; IDA:BHF-UCL. # GO_process GO:0086009 membrane repolarization; IDA:BHF-UCL. # GO_process GO:1901018 positive regulation of potassium ion transmembrane transporter activity; IDA:BHF-UCL. # GO_process GO:1903278 positive regulation of sodium ion export from cell; IDA:BHF-UCL. # GO_process GO:1903288 positive regulation of potassium ion import; IDA:BHF-UCL. # GO_process GO:1903779 regulation of cardiac conduction; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0031410 cytoplasmic vesicle # GOslim_component GO:0043226 organelle # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0019899 enzyme binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0030234 enzyme regulator activity # GOslim_process GO:0002376 immune system process # GOslim_process GO:0006810 transport # GOslim_process GO:0007009 plasma membrane organization # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0048870 cell motility # GOslim_process GO:0055085 transmembrane transport # Genevisible P54709 HS # HGNC HGNC:806 ATP1B3 # IntAct P54709 5 # InterPro IPR000402 Na/K_ATPase_sub_beta # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04090 Cellular antigens # KEGG_Pathway ko04260 Cardiac muscle contraction # KEGG_Pathway ko04960 Aldosterone-regulated sodium reabsorption # KEGG_Pathway ko04961 Endocrine and other factor-regulated calcium reabsorption # KEGG_Pathway ko04964 Proximal tubule bicarbonate reclamation # KEGG_Pathway ko04970 Salivary secretion # KEGG_Pathway ko04971 Gastric acid secretion # KEGG_Pathway ko04972 Pancreatic secretion # KEGG_Pathway ko04973 Carbohydrate digestion and absorption # KEGG_Pathway ko04974 Protein digestion and absorption # KEGG_Pathway ko04976 Bile secretion # KEGG_Pathway ko04978 Mineral absorption # MIM 601867 gene # Organism AT1B3_HUMAN Homo sapiens (Human) # PANTHER PTHR11523 PTHR11523 # PIR G02485 G02485 # PROSITE PS00390 ATPASE_NA_K_BETA_1 # Pfam PF00287 Na_K-ATPase # Proteomes UP000005640 Chromosome 3 # Reactome R-HSA-210991 Basigin interactions # Reactome R-HSA-5578775 Ion homeostasis # Reactome R-HSA-936837 Ion transport by P-type ATPases # RecName AT1B3_HUMAN Sodium/potassium-transporting ATPase subunit beta-3 # RefSeq NP_001670 NM_001679.3. [P54709-1] # SIMILARITY Belongs to the X(+)/potassium ATPases subunit beta family. {ECO 0000305}. # SUBCELLULAR LOCATION AT1B3_HUMAN Cell membrane {ECO 0000269|PubMed 17081065}; Single-pass type II membrane protein {ECO 0000269|PubMed 17081065}. Melanosome {ECO 0000269|PubMed 17081065}. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. # SUBUNIT Composed of three subunits alpha (catalytic), beta and gamma. # TCDB 3.A.3.1 the p-type atpase (p-atpase) superfamily # TIGRFAMs TIGR01107 Na_K_ATPase_bet # TopDownProteomics P54709-1 -. [P54709-1] # UCSC uc003eug human. [P54709-1] # eggNOG ENOG411150A LUCA # eggNOG KOG3927 Eukaryota BLAST swissprot:AT1B3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:AT1B3_HUMAN BioCyc ZFISH:HS00972-MONOMER http://biocyc.org/getid?id=ZFISH:HS00972-MONOMER COXPRESdb 483 http://coxpresdb.jp/data/gene/483.shtml CleanEx HS_ATP1B3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ATP1B3 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1007/s003359900704 http://dx.doi.org/10.1007/s003359900704 DOI 10.1021/pr060363j http://dx.doi.org/10.1021/pr060363j DOI 10.1038/nature04728 http://dx.doi.org/10.1038/nature04728 DOI 10.1038/nbt827 http://dx.doi.org/10.1038/nbt827 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.271.37.22754 http://dx.doi.org/10.1074/jbc.271.37.22754 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AC112504 http://www.ebi.ac.uk/ena/data/view/AC112504 EMBL AF005890 http://www.ebi.ac.uk/ena/data/view/AF005890 EMBL AF005891 http://www.ebi.ac.uk/ena/data/view/AF005891 EMBL AF005892 http://www.ebi.ac.uk/ena/data/view/AF005892 EMBL AF005893 http://www.ebi.ac.uk/ena/data/view/AF005893 EMBL AF005894 http://www.ebi.ac.uk/ena/data/view/AF005894 EMBL AF005895 http://www.ebi.ac.uk/ena/data/view/AF005895 EMBL AF005896 http://www.ebi.ac.uk/ena/data/view/AF005896 EMBL AK293697 http://www.ebi.ac.uk/ena/data/view/AK293697 EMBL BC011835 http://www.ebi.ac.uk/ena/data/view/BC011835 EMBL U51478 http://www.ebi.ac.uk/ena/data/view/U51478 Ensembl ENST00000286371 http://www.ensembl.org/id/ENST00000286371 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005890 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005890 GO_component GO:0005901 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005901 GO_component GO:0042470 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042470 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0001671 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001671 GO_function GO:0005391 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005391 GO_function GO:0051117 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051117 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0006883 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006883 GO_process GO:0010107 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010107 GO_process GO:0030007 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030007 GO_process GO:0032781 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032781 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0036376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0036376 GO_process GO:0050821 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050821 GO_process GO:0050900 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050900 GO_process GO:0072659 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0072659 GO_process GO:0086009 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086009 GO_process GO:1901018 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1901018 GO_process GO:1903278 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903278 GO_process GO:1903288 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903288 GO_process GO:1903779 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903779 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0031410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0030234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030234 GOslim_process GO:0002376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002376 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007009 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007009 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0048870 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048870 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards ATP1B3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ATP1B3 GeneID 483 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=483 GeneTree ENSGT00550000074530 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074530 HGNC HGNC:806 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:806 HOGENOM HOG000039248 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000039248&db=HOGENOM6 HOVERGEN HBG050603 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050603&db=HOVERGEN HPA CAB020697 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB020697 HPA HPA048963 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA048963 InParanoid P54709 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P54709 IntAct P54709 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P54709* InterPro IPR000402 http://www.ebi.ac.uk/interpro/entry/IPR000402 Jabion 483 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=483 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04090 http://www.genome.jp/dbget-bin/www_bget?ko04090 KEGG_Gene hsa:483 http://www.genome.jp/dbget-bin/www_bget?hsa:483 KEGG_Orthology KO:K01540 http://www.genome.jp/dbget-bin/www_bget?KO:K01540 KEGG_Pathway ko04260 http://www.genome.jp/kegg-bin/show_pathway?ko04260 KEGG_Pathway ko04960 http://www.genome.jp/kegg-bin/show_pathway?ko04960 KEGG_Pathway ko04961 http://www.genome.jp/kegg-bin/show_pathway?ko04961 KEGG_Pathway ko04964 http://www.genome.jp/kegg-bin/show_pathway?ko04964 KEGG_Pathway ko04970 http://www.genome.jp/kegg-bin/show_pathway?ko04970 KEGG_Pathway ko04971 http://www.genome.jp/kegg-bin/show_pathway?ko04971 KEGG_Pathway ko04972 http://www.genome.jp/kegg-bin/show_pathway?ko04972 KEGG_Pathway ko04973 http://www.genome.jp/kegg-bin/show_pathway?ko04973 KEGG_Pathway ko04974 http://www.genome.jp/kegg-bin/show_pathway?ko04974 KEGG_Pathway ko04976 http://www.genome.jp/kegg-bin/show_pathway?ko04976 KEGG_Pathway ko04978 http://www.genome.jp/kegg-bin/show_pathway?ko04978 MIM 601867 http://www.ncbi.nlm.nih.gov/omim/601867 MINT MINT-5001083 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-5001083 OMA HQSLAEW http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=HQSLAEW OrthoDB EOG091G0DJ4 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0DJ4 PANTHER PTHR11523 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11523 PROSITE PS00390 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00390 PSORT swissprot:AT1B3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:AT1B3_HUMAN PSORT-B swissprot:AT1B3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:AT1B3_HUMAN PSORT2 swissprot:AT1B3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:AT1B3_HUMAN Pfam PF00287 http://pfam.xfam.org/family/PF00287 PharmGKB PA68 http://www.pharmgkb.org/do/serve?objId=PA68&objCls=Gene Phobius swissprot:AT1B3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:AT1B3_HUMAN PhylomeDB P54709 http://phylomedb.org/?seqid=P54709 ProteinModelPortal P54709 http://www.proteinmodelportal.org/query/uniprot/P54709 PubMed 12754519 http://www.ncbi.nlm.nih.gov/pubmed/12754519 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16641997 http://www.ncbi.nlm.nih.gov/pubmed/16641997 PubMed 17081065 http://www.ncbi.nlm.nih.gov/pubmed/17081065 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 8798450 http://www.ncbi.nlm.nih.gov/pubmed/8798450 PubMed 9457675 http://www.ncbi.nlm.nih.gov/pubmed/9457675 Reactome R-HSA-210991 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-210991 Reactome R-HSA-5578775 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5578775 Reactome R-HSA-936837 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-936837 RefSeq NP_001670 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001670 STRING 9606.ENSP00000286371 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000286371&targetmode=cogs TCDB 3.A.3.1 http://www.tcdb.org/search/result.php?tc=3.A.3.1 TIGRFAMs TIGR01107 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01107 UCSC uc003eug http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003eug&org=rat UniGene Hs.477789 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.477789 UniProtKB AT1B3_HUMAN http://www.uniprot.org/uniprot/AT1B3_HUMAN UniProtKB-AC P54709 http://www.uniprot.org/uniprot/P54709 charge swissprot:AT1B3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:AT1B3_HUMAN eggNOG ENOG411150A http://eggnogapi.embl.de/nog_data/html/tree/ENOG411150A eggNOG KOG3927 http://eggnogapi.embl.de/nog_data/html/tree/KOG3927 epestfind swissprot:AT1B3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:AT1B3_HUMAN garnier swissprot:AT1B3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:AT1B3_HUMAN helixturnhelix swissprot:AT1B3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:AT1B3_HUMAN hmoment swissprot:AT1B3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:AT1B3_HUMAN iep swissprot:AT1B3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:AT1B3_HUMAN inforesidue swissprot:AT1B3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:AT1B3_HUMAN neXtProt NX_P54709 http://www.nextprot.org/db/entry/NX_P54709 octanol swissprot:AT1B3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:AT1B3_HUMAN pepcoil swissprot:AT1B3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:AT1B3_HUMAN pepdigest swissprot:AT1B3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:AT1B3_HUMAN pepinfo swissprot:AT1B3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:AT1B3_HUMAN pepnet swissprot:AT1B3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:AT1B3_HUMAN pepstats swissprot:AT1B3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:AT1B3_HUMAN pepwheel swissprot:AT1B3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:AT1B3_HUMAN pepwindow swissprot:AT1B3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:AT1B3_HUMAN sigcleave swissprot:AT1B3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:AT1B3_HUMAN ## Database ID URL or Descriptions # DOMAIN AQP11_HUMAN Aquaporins contain two tandem repeats each containing three membrane-spanning domains and a pore-forming loop with the signature motif Asn-Pro-Ala (NPA). # Ensembl ENST00000313578 ENSP00000318770; ENSG00000178301 # FUNCTION AQP11_HUMAN Aquaporins facilitate the transport of water and small neutral solutes across cell membranes. {ECO 0000250}. # GO_component GO:0005783 endoplasmic reticulum; IEA:Ensembl. # GO_component GO:0005829 cytosol; IEA:Ensembl. # GO_component GO:0005886 plasma membrane; IBA:GO_Central. # GO_component GO:0009986 cell surface; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0030425 dendrite; IEA:Ensembl. # GO_function GO:0015250 water channel activity; EXP:Reactome. # GO_process GO:0006833 water transport; TAS:Reactome. # GO_process GO:0048388 endosomal lumen acidification; IEA:Ensembl. # GO_process GO:0051260 protein homooligomerization; IEA:Ensembl. # GO_process GO:0072014 proximal tubule development; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_component GO:0005829 cytosol # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0048856 anatomical structure development # Gene3D 1.20.1080.10 -; 1. # Genevisible Q8NBQ7 HS # HGNC HGNC:19940 AQP11 # InterPro IPR000425 MIP # InterPro IPR016697 Aquaporin_11/12 # InterPro IPR023266 Aquaporin_11 # InterPro IPR023271 Aquaporin-like # KEGG_Brite ko04040 Ion channels # MIM 609914 gene # Organism AQP11_HUMAN Homo sapiens (Human) # PANTHER PTHR21191:SF7 PTHR21191:SF7 # PIRSF PIRSF017529 Aquaporin_11/12 # PRINTS PR00783 MINTRINSICP # PRINTS PR02024 AQUAPORIN11 # Pfam PF00230 MIP # Proteomes UP000005640 Chromosome 11 # Reactome R-HSA-432047 Passive transport by Aquaporins # RecName AQP11_HUMAN Aquaporin-11 # RefSeq NP_766627 NM_173039.2 # SIMILARITY Belongs to the MIP/aquaporin (TC 1.A.8) family. AQP11/AQP12 subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION AQP11_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # SUPFAM SSF81338 SSF81338 # TCDB 1.A.8.17 the major intrinsic protein (mip) family # UCSC uc001oyj human # eggNOG ENOG410IHUS Eukaryota # eggNOG ENOG4111GCP LUCA BLAST swissprot:AQP11_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:AQP11_HUMAN BioCyc ZFISH:ENSG00000178301-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000178301-MONOMER COXPRESdb 282679 http://coxpresdb.jp/data/gene/282679.shtml CleanEx HS_AQP11 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_AQP11 DOI 10.1093/dnares/12.2.117 http://dx.doi.org/10.1093/dnares/12.2.117 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AB028147 http://www.ebi.ac.uk/ena/data/view/AB028147 EMBL AK075346 http://www.ebi.ac.uk/ena/data/view/AK075346 EMBL BC040443 http://www.ebi.ac.uk/ena/data/view/BC040443 Ensembl ENST00000313578 http://www.ensembl.org/id/ENST00000313578 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0009986 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009986 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0030425 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030425 GO_function GO:0015250 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015250 GO_process GO:0006833 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006833 GO_process GO:0048388 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048388 GO_process GO:0051260 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051260 GO_process GO:0072014 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0072014 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 Gene3D 1.20.1080.10 http://www.cathdb.info/version/latest/superfamily/1.20.1080.10 GeneCards AQP11 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=AQP11 GeneID 282679 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=282679 GeneTree ENSGT00530000063816 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000063816 HGNC HGNC:19940 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:19940 HOGENOM HOG000034024 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000034024&db=HOGENOM6 HOVERGEN HBG050556 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050556&db=HOVERGEN HPA HPA042879 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA042879 InParanoid Q8NBQ7 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8NBQ7 IntAct Q8NBQ7 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q8NBQ7* InterPro IPR000425 http://www.ebi.ac.uk/interpro/entry/IPR000425 InterPro IPR016697 http://www.ebi.ac.uk/interpro/entry/IPR016697 InterPro IPR023266 http://www.ebi.ac.uk/interpro/entry/IPR023266 InterPro IPR023271 http://www.ebi.ac.uk/interpro/entry/IPR023271 Jabion 282679 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=282679 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:282679 http://www.genome.jp/dbget-bin/www_bget?hsa:282679 KEGG_Orthology KO:K09870 http://www.genome.jp/dbget-bin/www_bget?KO:K09870 MIM 609914 http://www.ncbi.nlm.nih.gov/omim/609914 OMA CCTHELQ http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=CCTHELQ OrthoDB EOG091G0JBQ http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0JBQ PANTHER PTHR21191:SF7 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR21191:SF7 PRINTS PR00783 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00783 PRINTS PR02024 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR02024 PSORT swissprot:AQP11_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:AQP11_HUMAN PSORT-B swissprot:AQP11_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:AQP11_HUMAN PSORT2 swissprot:AQP11_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:AQP11_HUMAN Pfam PF00230 http://pfam.xfam.org/family/PF00230 PharmGKB PA134949682 http://www.pharmgkb.org/do/serve?objId=PA134949682&objCls=Gene Phobius swissprot:AQP11_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:AQP11_HUMAN PhylomeDB Q8NBQ7 http://phylomedb.org/?seqid=Q8NBQ7 ProteinModelPortal Q8NBQ7 http://www.proteinmodelportal.org/query/uniprot/Q8NBQ7 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16303743 http://www.ncbi.nlm.nih.gov/pubmed/16303743 Reactome R-HSA-432047 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-432047 RefSeq NP_766627 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_766627 STRING 9606.ENSP00000318770 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000318770&targetmode=cogs SUPFAM SSF81338 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81338 TCDB 1.A.8.17 http://www.tcdb.org/search/result.php?tc=1.A.8.17 UCSC uc001oyj http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001oyj&org=rat UniGene Hs.503345 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.503345 UniProtKB AQP11_HUMAN http://www.uniprot.org/uniprot/AQP11_HUMAN UniProtKB-AC Q8NBQ7 http://www.uniprot.org/uniprot/Q8NBQ7 charge swissprot:AQP11_HUMAN http://rest.g-language.org/emboss/charge/swissprot:AQP11_HUMAN eggNOG ENOG410IHUS http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IHUS eggNOG ENOG4111GCP http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111GCP epestfind swissprot:AQP11_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:AQP11_HUMAN garnier swissprot:AQP11_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:AQP11_HUMAN helixturnhelix swissprot:AQP11_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:AQP11_HUMAN hmoment swissprot:AQP11_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:AQP11_HUMAN iep swissprot:AQP11_HUMAN http://rest.g-language.org/emboss/iep/swissprot:AQP11_HUMAN inforesidue swissprot:AQP11_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:AQP11_HUMAN neXtProt NX_Q8NBQ7 http://www.nextprot.org/db/entry/NX_Q8NBQ7 octanol swissprot:AQP11_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:AQP11_HUMAN pepcoil swissprot:AQP11_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:AQP11_HUMAN pepdigest swissprot:AQP11_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:AQP11_HUMAN pepinfo swissprot:AQP11_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:AQP11_HUMAN pepnet swissprot:AQP11_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:AQP11_HUMAN pepstats swissprot:AQP11_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:AQP11_HUMAN pepwheel swissprot:AQP11_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:AQP11_HUMAN pepwindow swissprot:AQP11_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:AQP11_HUMAN sigcleave swissprot:AQP11_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:AQP11_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S38A7_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NVC3-1; Sequence=Displayed; Name=2; IsoId=Q9NVC3-2; Sequence=VSP_031511; Note=No experimental confirmation available.; # AltName S38A7_HUMAN Solute carrier family 38 member 7 # BioGrid 120531 11 # CCDS CCDS10800 -. [Q9NVC3-1] # ChiTaRS SLC38A7 human # Ensembl ENST00000219320 ENSP00000219320; ENSG00000103042. [Q9NVC3-1] # Ensembl ENST00000570101 ENSP00000454646; ENSG00000103042. [Q9NVC3-1] # ExpressionAtlas Q9NVC3 baseline and differential # FUNCTION S38A7_HUMAN Mediates sodium-dependent transport of amino acids, preferentially L-glutamine. {ECO 0000250}. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0030424 axon; ISS:UniProtKB. # GO_component GO:0043025 neuronal cell body; ISS:UniProtKB. # GO_function GO:0005290 L-histidine transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0005313 L-glutamate transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015179 L-amino acid transmembrane transporter activity; ISS:UniProtKB. # GO_function GO:0015180 L-alanine transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015182 L-asparagine transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015183 L-aspartate transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015186 L-glutamine transmembrane transporter activity; ISS:UniProtKB. # GO_function GO:0015190 L-leucine transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015191 L-methionine transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015194 L-serine transmembrane transporter activity; IBA:GO_Central. # GO_process GO:0006814 sodium ion transport; ISS:UniProtKB. # GO_process GO:0006867 asparagine transport; IBA:GO_Central. # GO_process GO:0015808 L-alanine transport; IBA:GO_Central. # GO_process GO:0015810 aspartate transport; IBA:GO_Central. # GO_process GO:0015825 L-serine transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # Genevisible Q9NVC3 HS # HGNC HGNC:25582 SLC38A7 # INTERACTION S38A7_HUMAN Q99942 RNF5; NbExp=3; IntAct=EBI-10314552, EBI-348482; # IntAct Q9NVC3 3 # InterPro IPR013057 AA_transpt_TM # KEGG_Brite ko02001 Solute carrier family # MIM 614236 gene # Organism S38A7_HUMAN Homo sapiens (Human) # Pfam PF01490 Aa_trans # Proteomes UP000005640 Chromosome 16 # RecName S38A7_HUMAN Putative sodium-coupled neutral amino acid transporter 7 # RefSeq NP_060701 NM_018231.2. [Q9NVC3-1] # RefSeq XP_016878882 XM_017023393.1. [Q9NVC3-1] # RefSeq XP_016878886 XM_017023397.1. [Q9NVC3-2] # SIMILARITY Belongs to the amino acid/polyamine transporter 2 family. {ECO 0000305}. # SUBCELLULAR LOCATION S38A7_HUMAN Membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. Note=In neurons, located in soma and axons. {ECO 0000250}. # TCDB 2.A.18.6.13 the amino acid/auxin permease (aaap) family # UCSC uc002eod human. [Q9NVC3-1] # eggNOG COG0814 LUCA # eggNOG KOG1305 Eukaryota BLAST swissprot:S38A7_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S38A7_HUMAN BioCyc ZFISH:ENSG00000103042-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000103042-MONOMER COXPRESdb 55238 http://coxpresdb.jp/data/gene/55238.shtml CleanEx HS_SLC38A7 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC38A7 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AK001677 http://www.ebi.ac.uk/ena/data/view/AK001677 EMBL AK022786 http://www.ebi.ac.uk/ena/data/view/AK022786 EMBL AK222932 http://www.ebi.ac.uk/ena/data/view/AK222932 EMBL BC001961 http://www.ebi.ac.uk/ena/data/view/BC001961 EMBL CH471092 http://www.ebi.ac.uk/ena/data/view/CH471092 EMBL CR457236 http://www.ebi.ac.uk/ena/data/view/CR457236 Ensembl ENST00000219320 http://www.ensembl.org/id/ENST00000219320 Ensembl ENST00000570101 http://www.ensembl.org/id/ENST00000570101 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0030424 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030424 GO_component GO:0043025 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043025 GO_function GO:0005290 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005290 GO_function GO:0005313 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005313 GO_function GO:0015179 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015179 GO_function GO:0015180 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015180 GO_function GO:0015182 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015182 GO_function GO:0015183 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015183 GO_function GO:0015186 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015186 GO_function GO:0015190 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015190 GO_function GO:0015191 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015191 GO_function GO:0015194 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015194 GO_process GO:0006814 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006814 GO_process GO:0006867 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006867 GO_process GO:0015808 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015808 GO_process GO:0015810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015810 GO_process GO:0015825 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015825 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GeneCards SLC38A7 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC38A7 GeneID 55238 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=55238 GeneTree ENSGT00710000106751 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00710000106751 HGNC HGNC:25582 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:25582 HOGENOM HOG000008036 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000008036&db=HOGENOM6 HOVERGEN HBG055999 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG055999&db=HOVERGEN HPA HPA041777 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA041777 InParanoid Q9NVC3 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9NVC3 IntAct Q9NVC3 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9NVC3* InterPro IPR013057 http://www.ebi.ac.uk/interpro/entry/IPR013057 Jabion 55238 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=55238 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:55238 http://www.genome.jp/dbget-bin/www_bget?hsa:55238 KEGG_Orthology KO:K14994 http://www.genome.jp/dbget-bin/www_bget?KO:K14994 MIM 614236 http://www.ncbi.nlm.nih.gov/omim/614236 MINT MINT-4650882 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-4650882 OMA SWVAVFN http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=SWVAVFN OrthoDB EOG091G08A4 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G08A4 PSORT swissprot:S38A7_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S38A7_HUMAN PSORT-B swissprot:S38A7_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S38A7_HUMAN PSORT2 swissprot:S38A7_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S38A7_HUMAN Pfam PF01490 http://pfam.xfam.org/family/PF01490 PharmGKB PA162403772 http://www.pharmgkb.org/do/serve?objId=PA162403772&objCls=Gene Phobius swissprot:S38A7_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S38A7_HUMAN PhylomeDB Q9NVC3 http://phylomedb.org/?seqid=Q9NVC3 ProteinModelPortal Q9NVC3 http://www.proteinmodelportal.org/query/uniprot/Q9NVC3 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 RefSeq NP_060701 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_060701 RefSeq XP_016878882 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016878882 RefSeq XP_016878886 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016878886 STRING 9606.ENSP00000219320 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000219320&targetmode=cogs TCDB 2.A.18.6.13 http://www.tcdb.org/search/result.php?tc=2.A.18.6.13 UCSC uc002eod http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002eod&org=rat UniGene Hs.10499 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.10499 UniGene Hs.593499 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.593499 UniProtKB S38A7_HUMAN http://www.uniprot.org/uniprot/S38A7_HUMAN UniProtKB-AC Q9NVC3 http://www.uniprot.org/uniprot/Q9NVC3 charge swissprot:S38A7_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S38A7_HUMAN eggNOG COG0814 http://eggnogapi.embl.de/nog_data/html/tree/COG0814 eggNOG KOG1305 http://eggnogapi.embl.de/nog_data/html/tree/KOG1305 epestfind swissprot:S38A7_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S38A7_HUMAN garnier swissprot:S38A7_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S38A7_HUMAN helixturnhelix swissprot:S38A7_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S38A7_HUMAN hmoment swissprot:S38A7_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S38A7_HUMAN iep swissprot:S38A7_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S38A7_HUMAN inforesidue swissprot:S38A7_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S38A7_HUMAN neXtProt NX_Q9NVC3 http://www.nextprot.org/db/entry/NX_Q9NVC3 octanol swissprot:S38A7_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S38A7_HUMAN pepcoil swissprot:S38A7_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S38A7_HUMAN pepdigest swissprot:S38A7_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S38A7_HUMAN pepinfo swissprot:S38A7_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S38A7_HUMAN pepnet swissprot:S38A7_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S38A7_HUMAN pepstats swissprot:S38A7_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S38A7_HUMAN pepwheel swissprot:S38A7_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S38A7_HUMAN pepwindow swissprot:S38A7_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S38A7_HUMAN sigcleave swissprot:S38A7_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S38A7_HUMAN ## Database ID URL or Descriptions # BioGrid 114489 9 # DOMAIN CLIC3_HUMAN Members of this family may change from a globular, soluble state to a state where the N-terminal domain is inserted into the membrane and functions as chloride channel. A conformation change of the N-terminal domain is thought to expose hydrophobic surfaces that trigger membrane insertion (By similarity). {ECO 0000250}. # Ensembl ENST00000494426 ENSP00000419378; ENSG00000169583 # FUNCTION CLIC3_HUMAN Can insert into membranes and form chloride ion channels. May participate in cellular growth control. {ECO 0000269|PubMed 9880541}. # GO_component GO:0005634 nucleus; IDA:UniProtKB. # GO_component GO:0005737 cytoplasm; IDA:UniProtKB. # GO_component GO:0034707 chloride channel complex; IEA:UniProtKB-KW. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0005244 voltage-gated ion channel activity; IEA:UniProtKB-KW. # GO_function GO:0005254 chloride channel activity; IMP:UniProtKB. # GO_process GO:0006821 chloride transport; IMP:UniProtKB. # GO_process GO:0007165 signal transduction; TAS:ProtInc. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0043226 organelle # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # Gene3D 1.20.1050.10 -; 1. # Gene3D 3.40.30.10 -; 1. # Genevisible O95833 HS # HGNC HGNC:2064 CLIC3 # INTERACTION CLIC3_HUMAN Q5JST6 EFHC2; NbExp=3; IntAct=EBI-10192241, EBI-2349927; Q9NUX5 POT1; NbExp=2; IntAct=EBI-10192241, EBI-752420; # IntAct O95833 3 # InterPro IPR002946 CLIC # InterPro IPR004045 Glutathione_S-Trfase_N # InterPro IPR010987 Glutathione-S-Trfase_C-like # InterPro IPR012336 Thioredoxin-like_fold # InterPro IPR030261 CLIC-3 # KEGG_Brite ko04040 Ion channels # MIM 606533 gene # Organism CLIC3_HUMAN Homo sapiens (Human) # PANTHER PTHR11260:SF266 PTHR11260:SF266; 2 # PDB 3FY7 X-ray; 1.95 A; A/B=1-230 # PDB 3KJY X-ray; 1.95 A; A/B=1-230 # PRINTS PR01263 INTCLCHANNEL # PROSITE PS50404 GST_NTER # PROSITE PS50405 GST_CTER # Pfam PF13417 GST_N_3 # Proteomes UP000005640 Chromosome 9 # RecName CLIC3_HUMAN Chloride intracellular channel protein 3 # RefSeq NP_004660 NM_004669.2 # RefSeq XP_016870771 XM_017015282.1 # SEQUENCE CAUTION Sequence=AAD16450.1; Type=Frameshift; Positions=28; Evidence={ECO 0000305}; # SIMILARITY Belongs to the chloride channel CLIC family. {ECO 0000305}. # SIMILARITY Contains 1 GST C-terminal domain. {ECO 0000305}. # SIMILARITY Contains 1 GST N-terminal domain. {ECO 0000305}. # SUBCELLULAR LOCATION CLIC3_HUMAN Nucleus. Membrane; Single-pass membrane protein. Cytoplasm. Note=Predominantly nuclear. Some protein was found in the cytoplasm. Exists both as soluble cytoplasmic protein and as membrane protein with probably a single transmembrane domain (By similarity). {ECO 0000250}. # SUBUNIT CLIC3_HUMAN Associated with the C-terminal of ERK7. # SUPFAM SSF47616 SSF47616 # SUPFAM SSF52833 SSF52833 # TCDB 1.A.12.1 the intracellular chloride channel (clic) family # TISSUE SPECIFICITY CLIC3_HUMAN Detected in placenta (at protein level). Widely expressed. High expression is found in placenta followed by lung and heart. Low expression in skeletal muscle, kidney and pancreas. {ECO 0000269|PubMed 17027078, ECO 0000269|PubMed 9880541}. # UCSC uc004ckj human # eggNOG ENOG410INGX Eukaryota # eggNOG ENOG41128FW LUCA BLAST swissprot:CLIC3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CLIC3_HUMAN BioCyc ZFISH:ENSG00000169583-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000169583-MONOMER COXPRESdb 9022 http://coxpresdb.jp/data/gene/9022.shtml CleanEx HS_CLIC3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CLIC3 DOI 10.1002/prot.22675 http://dx.doi.org/10.1002/prot.22675 DOI 10.1016/j.placenta.2006.08.002 http://dx.doi.org/10.1016/j.placenta.2006.08.002 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature02465 http://dx.doi.org/10.1038/nature02465 DOI 10.1074/jbc.274.3.1621 http://dx.doi.org/10.1074/jbc.274.3.1621 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AF102166 http://www.ebi.ac.uk/ena/data/view/AF102166 EMBL AL807752 http://www.ebi.ac.uk/ena/data/view/AL807752 EMBL BC007012 http://www.ebi.ac.uk/ena/data/view/BC007012 EMBL CH471090 http://www.ebi.ac.uk/ena/data/view/CH471090 Ensembl ENST00000494426 http://www.ensembl.org/id/ENST00000494426 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0034707 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034707 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0005244 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005244 GO_function GO:0005254 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005254 GO_process GO:0006821 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006821 GO_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 Gene3D 1.20.1050.10 http://www.cathdb.info/version/latest/superfamily/1.20.1050.10 Gene3D 3.40.30.10 http://www.cathdb.info/version/latest/superfamily/3.40.30.10 GeneCards CLIC3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CLIC3 GeneID 9022 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=9022 GeneTree ENSGT00550000074477 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074477 HGNC HGNC:2064 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:2064 HOGENOM HOG000231548 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231548&db=HOGENOM6 HOVERGEN HBG050994 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050994&db=HOVERGEN HPA HPA005963 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA005963 InParanoid O95833 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O95833 IntAct O95833 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O95833* InterPro IPR002946 http://www.ebi.ac.uk/interpro/entry/IPR002946 InterPro IPR004045 http://www.ebi.ac.uk/interpro/entry/IPR004045 InterPro IPR010987 http://www.ebi.ac.uk/interpro/entry/IPR010987 InterPro IPR012336 http://www.ebi.ac.uk/interpro/entry/IPR012336 InterPro IPR030261 http://www.ebi.ac.uk/interpro/entry/IPR030261 Jabion 9022 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=9022 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:9022 http://www.genome.jp/dbget-bin/www_bget?hsa:9022 KEGG_Orthology KO:K05023 http://www.genome.jp/dbget-bin/www_bget?KO:K05023 MIM 606533 http://www.ncbi.nlm.nih.gov/omim/606533 OMA QDDALYQ http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=QDDALYQ OrthoDB EOG091G0IHT http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0IHT PANTHER PTHR11260:SF266 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11260:SF266 PDB 3FY7 http://www.ebi.ac.uk/pdbe-srv/view/entry/3FY7 PDB 3KJY http://www.ebi.ac.uk/pdbe-srv/view/entry/3KJY PDBsum 3FY7 http://www.ebi.ac.uk/pdbsum/3FY7 PDBsum 3KJY http://www.ebi.ac.uk/pdbsum/3KJY PRINTS PR01263 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01263 PROSITE PS50404 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50404 PROSITE PS50405 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50405 PSORT swissprot:CLIC3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CLIC3_HUMAN PSORT-B swissprot:CLIC3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CLIC3_HUMAN PSORT2 swissprot:CLIC3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CLIC3_HUMAN Pfam PF13417 http://pfam.xfam.org/family/PF13417 PharmGKB PA26590 http://www.pharmgkb.org/do/serve?objId=PA26590&objCls=Gene Phobius swissprot:CLIC3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CLIC3_HUMAN PhylomeDB O95833 http://phylomedb.org/?seqid=O95833 ProteinModelPortal O95833 http://www.proteinmodelportal.org/query/uniprot/O95833 PubMed 15164053 http://www.ncbi.nlm.nih.gov/pubmed/15164053 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 17027078 http://www.ncbi.nlm.nih.gov/pubmed/17027078 PubMed 20146363 http://www.ncbi.nlm.nih.gov/pubmed/20146363 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 9880541 http://www.ncbi.nlm.nih.gov/pubmed/9880541 RefSeq NP_004660 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004660 RefSeq XP_016870771 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016870771 SMR O95833 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=O95833 STRING 9606.ENSP00000419378 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000419378&targetmode=cogs SUPFAM SSF47616 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF47616 SUPFAM SSF52833 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52833 TCDB 1.A.12.1 http://www.tcdb.org/search/result.php?tc=1.A.12.1 UCSC uc004ckj http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc004ckj&org=rat UniGene Hs.64746 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.64746 UniProtKB CLIC3_HUMAN http://www.uniprot.org/uniprot/CLIC3_HUMAN UniProtKB-AC O95833 http://www.uniprot.org/uniprot/O95833 charge swissprot:CLIC3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CLIC3_HUMAN eggNOG ENOG410INGX http://eggnogapi.embl.de/nog_data/html/tree/ENOG410INGX eggNOG ENOG41128FW http://eggnogapi.embl.de/nog_data/html/tree/ENOG41128FW epestfind swissprot:CLIC3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CLIC3_HUMAN garnier swissprot:CLIC3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CLIC3_HUMAN helixturnhelix swissprot:CLIC3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CLIC3_HUMAN hmoment swissprot:CLIC3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CLIC3_HUMAN iep swissprot:CLIC3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CLIC3_HUMAN inforesidue swissprot:CLIC3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CLIC3_HUMAN neXtProt NX_O95833 http://www.nextprot.org/db/entry/NX_O95833 octanol swissprot:CLIC3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CLIC3_HUMAN pepcoil swissprot:CLIC3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CLIC3_HUMAN pepdigest swissprot:CLIC3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CLIC3_HUMAN pepinfo swissprot:CLIC3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CLIC3_HUMAN pepnet swissprot:CLIC3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CLIC3_HUMAN pepstats swissprot:CLIC3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CLIC3_HUMAN pepwheel swissprot:CLIC3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CLIC3_HUMAN pepwindow swissprot:CLIC3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CLIC3_HUMAN sigcleave swissprot:CLIC3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CLIC3_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S38A6_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8IZM9-1; Sequence=Displayed; Name=2; IsoId=Q8IZM9-2; Sequence=VSP_029563; # AltName S38A6_HUMAN N-system amino acid transporter 1 # AltName S38A6_HUMAN Na(+)-coupled neutral amino acid transporter 6 # AltName S38A6_HUMAN Solute carrier family 38 member 6 # BioGrid 126909 9 # CCDS CCDS53900 -. [Q8IZM9-2] # CCDS CCDS9751 -. [Q8IZM9-1] # ChiTaRS SLC38A6 human # Ensembl ENST00000267488 ENSP00000267488; ENSG00000139974. [Q8IZM9-1] # Ensembl ENST00000354886 ENSP00000346959; ENSG00000139974. [Q8IZM9-2] # ExpressionAtlas Q8IZM9 baseline and differential # FUNCTION S38A6_HUMAN Probable sodium-dependent amino acid/proton antiporter, could be a neuronal transporter for glutamate. {ECO 0000250|UniProtKB G3UVW3}. # GO_component GO:0005886 plasma membrane; ISS:UniProtKB. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_function GO:0015171 amino acid transmembrane transporter activity; IBA:GO_Central. # GO_process GO:0003333 amino acid transmembrane transport; IBA:GO_Central. # GO_process GO:0006814 sodium ion transport; IEA:UniProtKB-KW. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0055085 transmembrane transport # Genevisible Q8IZM9 HS # HGNC HGNC:19863 SLC38A6 # InterPro IPR013057 AA_transpt_TM # KEGG_Brite ko02001 Solute carrier family # MIM 616518 gene # Organism S38A6_HUMAN Homo sapiens (Human) # Pfam PF01490 Aa_trans # Proteomes UP000005640 Chromosome 14 # RecName S38A6_HUMAN Probable sodium-coupled neutral amino acid transporter 6 # RefSeq NP_001166173 NM_001172702.1. [Q8IZM9-2] # RefSeq NP_722518 NM_153811.2. [Q8IZM9-1] # SIMILARITY Belongs to the amino acid/polyamine transporter 2 family. {ECO 0000305}. # SUBCELLULAR LOCATION S38A6_HUMAN Cell membrane {ECO 0000250|UniProtKB G3UVW3}; Multi-pass membrane protein {ECO 0000255}. Note=Colocalizes with synaptotagmins and SNAP25. {ECO 0000250|UniProtKB G3UVW3}. # TCDB 2.A.18.6.11 the amino acid/auxin permease (aaap) family # UCSC uc001xfg human. [Q8IZM9-1] # eggNOG COG0814 LUCA # eggNOG KOG1305 Eukaryota BLAST swissprot:S38A6_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S38A6_HUMAN COXPRESdb 145389 http://coxpresdb.jp/data/gene/145389.shtml CleanEx HS_NAT1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_NAT1 CleanEx HS_SLC38A6 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC38A6 DOI 10.1007/s00424-003-1117-9 http://dx.doi.org/10.1007/s00424-003-1117-9 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature01348 http://dx.doi.org/10.1038/nature01348 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 EMBL AF543422 http://www.ebi.ac.uk/ena/data/view/AF543422 EMBL AL160234 http://www.ebi.ac.uk/ena/data/view/AL160234 EMBL AL160236 http://www.ebi.ac.uk/ena/data/view/AL160236 EMBL BC110378 http://www.ebi.ac.uk/ena/data/view/BC110378 EMBL BX248072 http://www.ebi.ac.uk/ena/data/view/BX248072 Ensembl ENST00000267488 http://www.ensembl.org/id/ENST00000267488 Ensembl ENST00000354886 http://www.ensembl.org/id/ENST00000354886 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0015171 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015171 GO_process GO:0003333 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003333 GO_process GO:0006814 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006814 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC38A6 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC38A6 GeneID 145389 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=145389 GeneTree ENSGT00760000119147 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119147 HGNC HGNC:19863 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:19863 HOGENOM HOG000013088 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000013088&db=HOGENOM6 HOVERGEN HBG059571 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG059571&db=HOVERGEN HPA HPA018508 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA018508 InParanoid Q8IZM9 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8IZM9 InterPro IPR013057 http://www.ebi.ac.uk/interpro/entry/IPR013057 Jabion 145389 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=145389 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:145389 http://www.genome.jp/dbget-bin/www_bget?hsa:145389 KEGG_Orthology KO:K14993 http://www.genome.jp/dbget-bin/www_bget?KO:K14993 MIM 616518 http://www.ncbi.nlm.nih.gov/omim/616518 OMA KRMQNAT http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=KRMQNAT OrthoDB EOG091G0GP8 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0GP8 PSORT swissprot:S38A6_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S38A6_HUMAN PSORT-B swissprot:S38A6_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S38A6_HUMAN PSORT2 swissprot:S38A6_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S38A6_HUMAN Pfam PF01490 http://pfam.xfam.org/family/PF01490 PharmGKB PA134932150 http://www.pharmgkb.org/do/serve?objId=PA134932150&objCls=Gene Phobius swissprot:S38A6_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S38A6_HUMAN PhylomeDB Q8IZM9 http://phylomedb.org/?seqid=Q8IZM9 ProteinModelPortal Q8IZM9 http://www.proteinmodelportal.org/query/uniprot/Q8IZM9 PubMed 12508121 http://www.ncbi.nlm.nih.gov/pubmed/12508121 PubMed 12845534 http://www.ncbi.nlm.nih.gov/pubmed/12845534 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 RefSeq NP_001166173 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001166173 RefSeq NP_722518 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_722518 STRING 9606.ENSP00000346959 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000346959&targetmode=cogs TCDB 2.A.18.6.11 http://www.tcdb.org/search/result.php?tc=2.A.18.6.11 UCSC uc001xfg http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001xfg&org=rat UniGene Hs.200738 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.200738 UniProtKB S38A6_HUMAN http://www.uniprot.org/uniprot/S38A6_HUMAN UniProtKB-AC Q8IZM9 http://www.uniprot.org/uniprot/Q8IZM9 charge swissprot:S38A6_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S38A6_HUMAN eggNOG COG0814 http://eggnogapi.embl.de/nog_data/html/tree/COG0814 eggNOG KOG1305 http://eggnogapi.embl.de/nog_data/html/tree/KOG1305 epestfind swissprot:S38A6_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S38A6_HUMAN garnier swissprot:S38A6_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S38A6_HUMAN helixturnhelix swissprot:S38A6_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S38A6_HUMAN hmoment swissprot:S38A6_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S38A6_HUMAN iep swissprot:S38A6_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S38A6_HUMAN inforesidue swissprot:S38A6_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S38A6_HUMAN neXtProt NX_Q8IZM9 http://www.nextprot.org/db/entry/NX_Q8IZM9 octanol swissprot:S38A6_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S38A6_HUMAN pepcoil swissprot:S38A6_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S38A6_HUMAN pepdigest swissprot:S38A6_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S38A6_HUMAN pepinfo swissprot:S38A6_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S38A6_HUMAN pepnet swissprot:S38A6_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S38A6_HUMAN pepstats swissprot:S38A6_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S38A6_HUMAN pepwheel swissprot:S38A6_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S38A6_HUMAN pepwindow swissprot:S38A6_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S38A6_HUMAN sigcleave swissprot:S38A6_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S38A6_HUMAN ## Database ID URL or Descriptions # AltName S6A19_HUMAN Solute carrier family 6 member 19 # AltName S6A19_HUMAN System B(0) neutral amino acid transporter AT1 # ChiTaRS SLC6A19 human # DISEASE S6A19_HUMAN Hartnup disorder (HND) [MIM 234500] Autosomal recessive abnormality of renal and gastrointestinal neutral amino acid transport noted for its clinical variability. First described in 1956, HND is characterized by increases in the urinary and intestinal excretion of neutral amino acids. Individuals with typical Hartnup aminoaciduria may be asymptomatic, some develop a photosensitive pellagra-like rash, attacks of cerebellar ataxia and other neurological or psychiatric features. Although the definition of HND was originally based on clinical and biochemical abnormalities, its marked clinical heterogeneity has led to it being known as a disorder with a consistent pathognomonic neutral hyperaminoaciduria. {ECO 0000269|PubMed 15286787, ECO 0000269|PubMed 15286788}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE S6A19_HUMAN Hyperglycinuria (HG) [MIM 138500] A condition characterized by excess of glycine in the urine. In some cases it is associated with renal colic and renal oxalate stones. {ECO 0000269|PubMed 19033659}. Note=The disease may be caused by mutations affecting the gene represented in this entry. SLC6A19 deficiency combined with haploinsufficiency of SLC6A20 or partially inactivating mutations in SLC36A2, can be responsible for hyperglycinuria. # DISEASE S6A19_HUMAN Iminoglycinuria (IG) [MIM 242600] A disorder of renal tubular reabsorption of glycine and imino acids (proline and hydroxyproline), marked by excessive levels of all three substances in the urine. {ECO 0000269|PubMed 19033659}. Note=The disease may be caused by mutations affecting the gene represented in this entry. SLC6A19 deficiency combined with haploinsufficiency of SLC6A20 or partially inactivating mutations in SLC36A2, can be responsible for iminoglycinuria. Additional polymorphisms and mutations in SLC6A18 can contribute to the IG phenotype in some families. # Ensembl ENST00000304460 ENSP00000305302; ENSG00000174358 # ExpressionAtlas Q695T7 baseline and differential # FUNCTION S6A19_HUMAN Transporter that mediates epithelial resorption of neutral amino acids across the apical membrane of epithelial cells in the kidney and intestine. It appears that leucine is the preferred substrate, but all large neutral non-aromatic L-amino acids bind to this transporter. Uptake of leucine is sodium- dependent. In contrast to other members of the neurotransmitter transporter family, does not appear to be chloride-dependent (By similarity). {ECO 0000250}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0031526 brush border membrane; IEA:Ensembl. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0015171 amino acid transmembrane transporter activity; TAS:Reactome. # GO_function GO:0015175 neutral amino acid transmembrane transporter activity; IBA:GO_Central. # GO_function S6A19_HUMAN GO 0005328 neurotransmitter sodium symporter activity; IEA InterPro. # GO_process GO:0006865 amino acid transport; TAS:Reactome. # GO_process GO:0007584 response to nutrient; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # Genevisible Q695T7 HS # HGNC HGNC:27960 SLC6A19 # InterPro IPR000175 Na/ntran_symport # InterPro IPR002438 Na/ntran_symport_orphan # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02001 Solute carrier family # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00843 [Inherited metabolic disease] Hartnup disorder # KEGG_Disease H00905 [Urinary system disease; Kidney disease; Inherited metabolic disease] Iminoglycinuria # KEGG_Disease H01304 [Kidney disease] Hyperglycinuria # KEGG_Pathway ko04974 Protein digestion and absorption # KEGG_Pathway ko04978 Mineral absorption # MIM 138500 phenotype # MIM 234500 phenotype # MIM 242600 phenotype # MIM 608893 gene # Organism S6A19_HUMAN Homo sapiens (Human) # Orphanet 2116 Hartnup disease # Orphanet 42062 Iminoglycinuria # PANTHER PTHR11616 PTHR11616; 2 # PRINTS PR00176 NANEUSMPORT # PRINTS PR01206 ORPHTRNSPORT # PROSITE PS00610 NA_NEUROTRAN_SYMP_1 # PROSITE PS50267 NA_NEUROTRAN_SYMP_3 # Pfam PF00209 SNF # Proteomes UP000005640 Chromosome 5 # Reactome R-HSA-352230 Amino acid transport across the plasma membrane # Reactome R-HSA-442660 Na+/Cl- dependent neurotransmitter transporters # RecName S6A19_HUMAN Sodium-dependent neutral amino acid transporter B(0)AT1 # RefSeq NP_001003841 NM_001003841.2 # SIMILARITY Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A19 subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION S6A19_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # TCDB 2.A.22.6:the neurotransmitter sodium symporter (nss) family # TISSUE SPECIFICITY S6A19_HUMAN Robust expression in kidney and small intestine, with minimal expression in pancreas. Also expressed in stomach, liver, duodenum, ileocecum, colon and prostate. Not detected in testis, whole brain, cerebellum, fetal liver, spleen, skeletal muscle, uterus, heart or lung. {ECO 0000269|PubMed 15286787, ECO 0000269|PubMed 15286788}. # UCSC uc003jbw human # eggNOG COG0733 LUCA # eggNOG KOG3659 Eukaryota BLAST swissprot:S6A19_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S6A19_HUMAN COXPRESdb 340024 http://coxpresdb.jp/data/gene/340024.shtml CleanEx HS_SLC6A19 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC6A19 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1038/ng1405 http://dx.doi.org/10.1038/ng1405 DOI 10.1038/ng1406 http://dx.doi.org/10.1038/ng1406 DOI 10.1172/JCI36625 http://dx.doi.org/10.1172/JCI36625 EMBL AK290811 http://www.ebi.ac.uk/ena/data/view/AK290811 EMBL AY591756 http://www.ebi.ac.uk/ena/data/view/AY591756 EMBL AY596807 http://www.ebi.ac.uk/ena/data/view/AY596807 EMBL CH471102 http://www.ebi.ac.uk/ena/data/view/CH471102 Ensembl ENST00000304460 http://www.ensembl.org/id/ENST00000304460 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0031526 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031526 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0005328 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005328 GO_function GO:0015171 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015171 GO_function GO:0015175 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015175 GO_process GO:0006865 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006865 GO_process GO:0007584 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007584 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GeneCards SLC6A19 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC6A19 GeneID 340024 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=340024 GeneTree ENSGT00760000119044 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119044 HGNC HGNC:27960 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:27960 HOGENOM HOG000116406 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000116406&db=HOGENOM6 HOVERGEN HBG071421 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG071421&db=HOVERGEN HPA HPA037415 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA037415 HPA HPA043207 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA043207 InParanoid Q695T7 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q695T7 InterPro IPR000175 http://www.ebi.ac.uk/interpro/entry/IPR000175 InterPro IPR002438 http://www.ebi.ac.uk/interpro/entry/IPR002438 Jabion 340024 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=340024 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00843 http://www.genome.jp/dbget-bin/www_bget?H00843 KEGG_Disease H00905 http://www.genome.jp/dbget-bin/www_bget?H00905 KEGG_Disease H01304 http://www.genome.jp/dbget-bin/www_bget?H01304 KEGG_Gene hsa:340024 http://www.genome.jp/dbget-bin/www_bget?hsa:340024 KEGG_Orthology KO:K05334 http://www.genome.jp/dbget-bin/www_bget?KO:K05334 KEGG_Pathway ko04974 http://www.genome.jp/kegg-bin/show_pathway?ko04974 KEGG_Pathway ko04978 http://www.genome.jp/kegg-bin/show_pathway?ko04978 MIM 138500 http://www.ncbi.nlm.nih.gov/omim/138500 MIM 234500 http://www.ncbi.nlm.nih.gov/omim/234500 MIM 242600 http://www.ncbi.nlm.nih.gov/omim/242600 MIM 608893 http://www.ncbi.nlm.nih.gov/omim/608893 OMA GYVDECA http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=GYVDECA Orphanet 2116 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=2116 Orphanet 42062 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=42062 OrthoDB EOG091G08PX http://cegg.unige.ch/orthodb/results?searchtext=EOG091G08PX PANTHER PTHR11616 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11616 PRINTS PR00176 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00176 PRINTS PR01206 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01206 PROSITE PS00610 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00610 PROSITE PS50267 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50267 PSORT swissprot:S6A19_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S6A19_HUMAN PSORT-B swissprot:S6A19_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S6A19_HUMAN PSORT2 swissprot:S6A19_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S6A19_HUMAN Pfam PF00209 http://pfam.xfam.org/family/PF00209 PharmGKB PA134968815 http://www.pharmgkb.org/do/serve?objId=PA134968815&objCls=Gene Phobius swissprot:S6A19_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S6A19_HUMAN PhylomeDB Q695T7 http://phylomedb.org/?seqid=Q695T7 ProteinModelPortal Q695T7 http://www.proteinmodelportal.org/query/uniprot/Q695T7 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15286787 http://www.ncbi.nlm.nih.gov/pubmed/15286787 PubMed 15286788 http://www.ncbi.nlm.nih.gov/pubmed/15286788 PubMed 19033659 http://www.ncbi.nlm.nih.gov/pubmed/19033659 Reactome R-HSA-352230 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-352230 Reactome R-HSA-442660 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-442660 RefSeq NP_001003841 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001003841 STRING 9606.ENSP00000305302 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000305302&targetmode=cogs TCDB 2.A.22.6 http://www.tcdb.org/search/result.php?tc=2.A.22.6 UCSC uc003jbw http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003jbw&org=rat UniGene Hs.481478 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.481478 UniProtKB S6A19_HUMAN http://www.uniprot.org/uniprot/S6A19_HUMAN UniProtKB-AC Q695T7 http://www.uniprot.org/uniprot/Q695T7 charge swissprot:S6A19_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S6A19_HUMAN eggNOG COG0733 http://eggnogapi.embl.de/nog_data/html/tree/COG0733 eggNOG KOG3659 http://eggnogapi.embl.de/nog_data/html/tree/KOG3659 epestfind swissprot:S6A19_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S6A19_HUMAN garnier swissprot:S6A19_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S6A19_HUMAN helixturnhelix swissprot:S6A19_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S6A19_HUMAN hmoment swissprot:S6A19_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S6A19_HUMAN iep swissprot:S6A19_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S6A19_HUMAN inforesidue swissprot:S6A19_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S6A19_HUMAN neXtProt NX_Q695T7 http://www.nextprot.org/db/entry/NX_Q695T7 octanol swissprot:S6A19_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S6A19_HUMAN pepcoil swissprot:S6A19_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S6A19_HUMAN pepdigest swissprot:S6A19_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S6A19_HUMAN pepinfo swissprot:S6A19_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S6A19_HUMAN pepnet swissprot:S6A19_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S6A19_HUMAN pepstats swissprot:S6A19_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S6A19_HUMAN pepwheel swissprot:S6A19_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S6A19_HUMAN pepwindow swissprot:S6A19_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S6A19_HUMAN sigcleave swissprot:S6A19_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S6A19_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S23A2_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9UGH3-1; Sequence=Displayed; Name=2; IsoId=Q9UGH3-2; Sequence=VSP_056485; Note=No experimental confirmation available.; # AltName S23A2_HUMAN Na(+)/L-ascorbic acid transporter 2 # AltName S23A2_HUMAN Nucleobase transporter-like 1 protein # AltName S23A2_HUMAN Sodium-dependent vitamin C transporter 2 # AltName S23A2_HUMAN Yolk sac permease-like molecule 2 # BioGrid 115287 4 # CCDS CCDS13085 -. [Q9UGH3-1] # ChiTaRS SLC23A2 human # Ensembl ENST00000338244 ENSP00000344322; ENSG00000089057. [Q9UGH3-1] # Ensembl ENST00000379333 ENSP00000368637; ENSG00000089057. [Q9UGH3-1] # ExpressionAtlas Q9UGH3 baseline and differential # FUNCTION S23A2_HUMAN Sodium/ascorbate cotransporter. Mediates electrogenic uptake of vitamin C, with a stoichiometry of 2 Na(+) for each ascorbate. # GO_component GO:0005737 cytoplasm; IEA:Ensembl. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0009925 basal plasma membrane; IEA:Ensembl. # GO_component GO:0016020 membrane; TAS:ProtInc. # GO_component GO:0016021 integral component of membrane; NAS:UniProtKB. # GO_component GO:0016323 basolateral plasma membrane; IDA:UniProtKB. # GO_component GO:0016324 apical plasma membrane; IDA:UniProtKB. # GO_function GO:0008523 sodium-dependent multivitamin transmembrane transporter activity; NAS:UniProtKB. # GO_function GO:0015205 nucleobase transmembrane transporter activity; TAS:ProtInc. # GO_function GO:0015229 L-ascorbic acid transporter activity; IDA:UniProtKB. # GO_function GO:0070890 sodium-dependent L-ascorbate transmembrane transporter activity; IDA:UniProtKB. # GO_function S23A2_HUMAN GO 0008520 L-ascorbate sodium symporter activity; IEA Ensembl. # GO_process GO:0006139 nucleobase-containing compound metabolic process; TAS:ProtInc. # GO_process GO:0006979 response to oxidative stress; IEA:Ensembl. # GO_process GO:0015851 nucleobase transport; TAS:ProtInc. # GO_process GO:0015882 L-ascorbic acid transport; IDA:UniProtKB. # GO_process GO:0015993 molecular hydrogen transport; NAS:UniProtKB. # GO_process GO:0019852 L-ascorbic acid metabolic process; NAS:UniProtKB. # GO_process GO:0070904 transepithelial L-ascorbic acid transport; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0005975 carbohydrate metabolic process # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0044281 small molecule metabolic process # Genevisible Q9UGH3 HS # HGNC HGNC:10973 SLC23A2 # InterPro IPR006042 Xan_ur_permease # InterPro IPR006043 Xant/urac/vitC # InterPro IPR029956 SlC23A2 # KEGG_Brite ko02001 Solute carrier family # MIM 603791 gene # Organism S23A2_HUMAN Homo sapiens (Human) # PANTHER PTHR11119 PTHR11119 # PANTHER PTHR11119:SF33 PTHR11119:SF33 # PIR JC7095 JC7095 # PROSITE PS01116 XANTH_URACIL_PERMASE # PTM S23A2_HUMAN Phosphorylated. # Pfam PF00860 Xan_ur_permease # Proteomes UP000005640 Chromosome 20 # Reactome R-HSA-196836 Vitamin C (ascorbate) metabolism # RecName S23A2_HUMAN Solute carrier family 23 member 2 # RefSeq NP_005107 NM_005116.5. [Q9UGH3-1] # RefSeq NP_976072 NM_203327.1. [Q9UGH3-1] # RefSeq XP_011527716 XM_011529414.2. [Q9UGH3-1] # RefSeq XP_011527717 XM_011529415.2. [Q9UGH3-1] # RefSeq XP_011527718 XM_011529416.2. [Q9UGH3-1] # RefSeq XP_011527719 XM_011529417.2. [Q9UGH3-1] # RefSeq XP_016883660 XM_017028171.1. [Q9UGH3-1] # RefSeq XP_016883661 XM_017028172.1. [Q9UGH3-1] # RefSeq XP_016883662 XM_017028173.1. [Q9UGH3-1] # RefSeq XP_016883663 XM_017028174.1. [Q9UGH3-1] # RefSeq XP_016883665 XM_017028176.1. [Q9UGH3-2] # RefSeq XP_016883666 XM_017028177.1. [Q9UGH3-2] # SEQUENCE CAUTION Sequence=BAA13244.2; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the xanthine/uracil permease family. Nucleobase:cation symporter-2 (NCS2) (TC 2.A.40) subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION S23A2_HUMAN Cell membrane {ECO 0000269|PubMed 19379732}; Multi-pass membrane protein {ECO 0000269|PubMed 19379732}. # TCDB 2.A.40.6:the nucleobase/ascorbate transporter (nat) or nucleobase cation symporter-2 (ncs2) family # TISSUE SPECIFICITY S23A2_HUMAN Ubiquitous. # UCSC uc002wlg human. [Q9UGH3-1] # eggNOG COG2233 LUCA # eggNOG KOG1292 Eukaryota BLAST swissprot:S23A2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S23A2_HUMAN BioCyc ZFISH:ENSG00000089057-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000089057-MONOMER COXPRESdb 9962 http://coxpresdb.jp/data/gene/9962.shtml CleanEx HS_SLC23A1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC23A1 CleanEx HS_SLC23A2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC23A2 DOI 10.1006/bbrc.1999.1272 http://dx.doi.org/10.1006/bbrc.1999.1272 DOI 10.1006/geno.1999.5847 http://dx.doi.org/10.1006/geno.1999.5847 DOI 10.1016/S0014-5793(99)01393-9 http://dx.doi.org/10.1016/S0014-5793(99)01393-9 DOI 10.1016/S0167-4781(98)00151-1 http://dx.doi.org/10.1016/S0167-4781(98)00151-1 DOI 10.1016/j.yexcr.2009.04.007 http://dx.doi.org/10.1016/j.yexcr.2009.04.007 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/414865a http://dx.doi.org/10.1038/414865a DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1093/dnares/3.5.321 http://dx.doi.org/10.1093/dnares/3.5.321 DOI 10.1093/dnares/9.3.99 http://dx.doi.org/10.1093/dnares/9.3.99 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/scisignal.2000007 http://dx.doi.org/10.1126/scisignal.2000007 EMBL AF058319 http://www.ebi.ac.uk/ena/data/view/AF058319 EMBL AF092511 http://www.ebi.ac.uk/ena/data/view/AF092511 EMBL AF164142 http://www.ebi.ac.uk/ena/data/view/AF164142 EMBL AJ269478 http://www.ebi.ac.uk/ena/data/view/AJ269478 EMBL AJ292318 http://www.ebi.ac.uk/ena/data/view/AJ292318 EMBL AK296304 http://www.ebi.ac.uk/ena/data/view/AK296304 EMBL AL109841 http://www.ebi.ac.uk/ena/data/view/AL109841 EMBL AL121890 http://www.ebi.ac.uk/ena/data/view/AL121890 EMBL AL389886 http://www.ebi.ac.uk/ena/data/view/AL389886 EMBL AY380556 http://www.ebi.ac.uk/ena/data/view/AY380556 EMBL BC013112 http://www.ebi.ac.uk/ena/data/view/BC013112 EMBL D87075 http://www.ebi.ac.uk/ena/data/view/D87075 Ensembl ENST00000338244 http://www.ensembl.org/id/ENST00000338244 Ensembl ENST00000379333 http://www.ensembl.org/id/ENST00000379333 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0009925 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009925 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0016323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016323 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_function GO:0008520 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008520 GO_function GO:0008523 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008523 GO_function GO:0015205 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015205 GO_function GO:0015229 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015229 GO_function GO:0070890 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070890 GO_process GO:0006139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006139 GO_process GO:0006979 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006979 GO_process GO:0015851 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015851 GO_process GO:0015882 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015882 GO_process GO:0015993 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015993 GO_process GO:0019852 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019852 GO_process GO:0070904 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070904 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0005975 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005975 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GeneCards SLC23A2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC23A2 GeneID 9962 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=9962 GeneTree ENSGT00390000015686 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000015686 HGNC HGNC:10973 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10973 HOGENOM HOG000038201 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000038201&db=HOGENOM6 HOVERGEN HBG056256 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG056256&db=HOVERGEN HPA HPA052825 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA052825 HPA HPA059314 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA059314 InParanoid Q9UGH3 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9UGH3 IntAct Q9UGH3 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9UGH3* InterPro IPR006042 http://www.ebi.ac.uk/interpro/entry/IPR006042 InterPro IPR006043 http://www.ebi.ac.uk/interpro/entry/IPR006043 InterPro IPR029956 http://www.ebi.ac.uk/interpro/entry/IPR029956 Jabion 9962 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=9962 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:9962 http://www.genome.jp/dbget-bin/www_bget?hsa:9962 KEGG_Orthology KO:K14611 http://www.genome.jp/dbget-bin/www_bget?KO:K14611 MIM 603791 http://www.ncbi.nlm.nih.gov/omim/603791 OMA IGMEGLM http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=IGMEGLM OrthoDB EOG091G063Y http://cegg.unige.ch/orthodb/results?searchtext=EOG091G063Y PANTHER PTHR11119 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11119 PANTHER PTHR11119:SF33 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11119:SF33 PROSITE PS01116 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS01116 PSORT swissprot:S23A2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S23A2_HUMAN PSORT-B swissprot:S23A2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S23A2_HUMAN PSORT2 swissprot:S23A2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S23A2_HUMAN Pfam PF00860 http://pfam.xfam.org/family/PF00860 PharmGKB PA35849 http://www.pharmgkb.org/do/serve?objId=PA35849&objCls=Gene Phobius swissprot:S23A2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S23A2_HUMAN PhylomeDB Q9UGH3 http://phylomedb.org/?seqid=Q9UGH3 ProteinModelPortal Q9UGH3 http://www.proteinmodelportal.org/query/uniprot/Q9UGH3 PubMed 10395795 http://www.ncbi.nlm.nih.gov/pubmed/10395795 PubMed 10471399 http://www.ncbi.nlm.nih.gov/pubmed/10471399 PubMed 10556521 http://www.ncbi.nlm.nih.gov/pubmed/10556521 PubMed 11396616 http://www.ncbi.nlm.nih.gov/pubmed/11396616 PubMed 11780052 http://www.ncbi.nlm.nih.gov/pubmed/11780052 PubMed 12168954 http://www.ncbi.nlm.nih.gov/pubmed/12168954 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 19379732 http://www.ncbi.nlm.nih.gov/pubmed/19379732 PubMed 19690332 http://www.ncbi.nlm.nih.gov/pubmed/19690332 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 9039502 http://www.ncbi.nlm.nih.gov/pubmed/9039502 PubMed 9804989 http://www.ncbi.nlm.nih.gov/pubmed/9804989 Reactome R-HSA-196836 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-196836 RefSeq NP_005107 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_005107 RefSeq NP_976072 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_976072 RefSeq XP_011527716 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011527716 RefSeq XP_011527717 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011527717 RefSeq XP_011527718 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011527718 RefSeq XP_011527719 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011527719 RefSeq XP_016883660 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016883660 RefSeq XP_016883661 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016883661 RefSeq XP_016883662 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016883662 RefSeq XP_016883663 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016883663 RefSeq XP_016883665 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016883665 RefSeq XP_016883666 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016883666 STRING 9606.ENSP00000344322 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000344322&targetmode=cogs TCDB 2.A.40.6 http://www.tcdb.org/search/result.php?tc=2.A.40.6 UCSC uc002wlg http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002wlg&org=rat UniGene Hs.516866 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.516866 UniProtKB S23A2_HUMAN http://www.uniprot.org/uniprot/S23A2_HUMAN UniProtKB-AC Q9UGH3 http://www.uniprot.org/uniprot/Q9UGH3 charge swissprot:S23A2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S23A2_HUMAN eggNOG COG2233 http://eggnogapi.embl.de/nog_data/html/tree/COG2233 eggNOG KOG1292 http://eggnogapi.embl.de/nog_data/html/tree/KOG1292 epestfind swissprot:S23A2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S23A2_HUMAN garnier swissprot:S23A2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S23A2_HUMAN helixturnhelix swissprot:S23A2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S23A2_HUMAN hmoment swissprot:S23A2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S23A2_HUMAN iep swissprot:S23A2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S23A2_HUMAN inforesidue swissprot:S23A2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S23A2_HUMAN neXtProt NX_Q9UGH3 http://www.nextprot.org/db/entry/NX_Q9UGH3 octanol swissprot:S23A2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S23A2_HUMAN pepcoil swissprot:S23A2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S23A2_HUMAN pepdigest swissprot:S23A2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S23A2_HUMAN pepinfo swissprot:S23A2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S23A2_HUMAN pepnet swissprot:S23A2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S23A2_HUMAN pepstats swissprot:S23A2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S23A2_HUMAN pepwheel swissprot:S23A2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S23A2_HUMAN pepwindow swissprot:S23A2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S23A2_HUMAN sigcleave swissprot:S23A2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S23A2_HUMAN ## Database ID URL or Descriptions # AltName SC6A1_HUMAN Solute carrier family 6 member 1 # BioGrid 112420 2 # ChiTaRS SLC6A1 human # DISEASE SC6A1_HUMAN Myoclonic-atonic epilepsy (MAE) [MIM 616421] A form of epilepsy characterized by myoclonic-atonic and absence seizures, appearing in early childhood. Patients have delayed development before the onset of seizures and show varying degrees of intellectual disability following seizure onset. {ECO 0000269|PubMed 25865495}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DOMAIN SC6A1_HUMAN The PDZ domain-binding motif is involved in the interaction with MPP5. # DrugBank DB00349 Clobazam # DrugBank DB00906 Tiagabine # Ensembl ENST00000287766 ENSP00000287766; ENSG00000157103 # ExpressionAtlas P30531 baseline and differential # FUNCTION SC6A1_HUMAN Terminates the action of GABA by its high affinity sodium-dependent reuptake into presynaptic terminals. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0009986 cell surface; IEA:Ensembl. # GO_component GO:0016020 membrane; TAS:ProtInc. # GO_component GO:0016021 integral component of membrane; TAS:ProtInc. # GO_component GO:0030424 axon; IEA:Ensembl. # GO_component GO:0043005 neuron projection; IBA:GO_Central. # GO_function GO:0046872 metal ion binding; IEA:UniProtKB-KW. # GO_function SC6A1_HUMAN GO 0005328 neurotransmitter sodium symporter activity; IEA InterPro. # GO_function SC6A1_HUMAN GO 0005332 gamma-aminobutyric acid sodium symporter activity; IBA GO_Central. # GO_process GO:0006810 transport; NAS:ProtInc. # GO_process GO:0006836 neurotransmitter transport; IBA:GO_Central. # GO_process GO:0007268 chemical synaptic transmission; TAS:ProtInc. # GO_process GO:0007612 learning; IEA:Ensembl. # GO_process GO:0009636 response to toxic substance; IEA:Ensembl. # GO_process GO:0009744 response to sucrose; IEA:Ensembl. # GO_process GO:0010288 response to lead ion; IEA:Ensembl. # GO_process GO:0014054 positive regulation of gamma-aminobutyric acid secretion; IEA:Ensembl. # GO_process GO:0014074 response to purine-containing compound; IEA:Ensembl. # GO_process GO:0015812 gamma-aminobutyric acid transport; IBA:GO_Central. # GO_process GO:0032229 negative regulation of synaptic transmission, GABAergic; IEA:Ensembl. # GO_process GO:0032355 response to estradiol; IEA:Ensembl. # GO_process GO:0042220 response to cocaine; IEA:Ensembl. # GO_process GO:0051260 protein homooligomerization; IEA:Ensembl. # GO_process GO:0051592 response to calcium ion; IEA:Ensembl. # GO_process GO:0051939 gamma-aminobutyric acid import; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # GOslim_process GO:0050877 neurological system process # Genevisible P30531 HS # HGNC HGNC:11042 SLC6A1 # IntAct P30531 2 # InterPro IPR000175 Na/ntran_symport # InterPro IPR002980 Na/ntran_symport_GABA_GAT1 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02001 Solute carrier family # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04727 GABAergic synapse # MIM 137165 gene # MIM 616421 phenotype # MISCELLANEOUS SC6A1_HUMAN This protein is the target of psychomotor stimulants such as amphetamines or cocaine. # Organism SC6A1_HUMAN Homo sapiens (Human) # PANTHER PTHR11616 PTHR11616 # PIR S11073 S11073 # PRINTS PR00176 NANEUSMPORT # PRINTS PR01195 GAT1TRNSPORT # PROSITE PS00610 NA_NEUROTRAN_SYMP_1 # PROSITE PS00754 NA_NEUROTRAN_SYMP_2 # PROSITE PS50267 NA_NEUROTRAN_SYMP_3 # Pfam PF00209 SNF # Proteomes UP000005640 Chromosome 3 # Reactome R-HSA-442660 Na+/Cl- dependent neurotransmitter transporters # Reactome R-HSA-888593 Reuptake of GABA # RecName SC6A1_HUMAN Sodium- and chloride-dependent GABA transporter 1 # RefSeq NP_003033 NM_003042.3 # RefSeq XP_005265467 XM_005265410.4 # RefSeq XP_005265468 XM_005265411.4 # RefSeq XP_006713369 XM_006713306.3 # RefSeq XP_011532327 XM_011534025.2 # RefSeq XP_011532329 XM_011534027.2 # RefSeq XP_016862560 XM_017007071.1 # RefSeq XP_016862561 XM_017007072.1 # SIMILARITY Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A1 subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION SC6A1_HUMAN Cell membrane; Multi-pass membrane protein. Membrane; Multi-pass membrane protein. Note=Localized at the plasma membrane and in a subset of intracellular vesicles. Localized at the presynaptic terminals of interneurons (By similarity). {ECO 0000250}. # SUBUNIT Interacts with MPP5. {ECO 0000250}. # TCDB 2.A.22.3:the neurotransmitter sodium symporter (nss) family # UCSC uc010hdq human # eggNOG COG0733 LUCA # eggNOG KOG3659 Eukaryota BLAST swissprot:SC6A1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SC6A1_HUMAN BioCyc ZFISH:ENSG00000157103-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000157103-MONOMER COXPRESdb 6529 http://coxpresdb.jp/data/gene/6529.shtml CleanEx HS_SLC6A1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC6A1 DOI 10.1016/0014-5793(90)81149-I http://dx.doi.org/10.1016/0014-5793(90)81149-I DOI 10.1016/j.ajhg.2015.02.016 http://dx.doi.org/10.1016/j.ajhg.2015.02.016 DOI 10.1038/nature04728 http://dx.doi.org/10.1038/nature04728 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DrugBank DB00349 http://www.drugbank.ca/drugs/DB00349 DrugBank DB00906 http://www.drugbank.ca/drugs/DB00906 EMBL AC024910 http://www.ebi.ac.uk/ena/data/view/AC024910 EMBL BC033904 http://www.ebi.ac.uk/ena/data/view/BC033904 EMBL X54673 http://www.ebi.ac.uk/ena/data/view/X54673 Ensembl ENST00000287766 http://www.ensembl.org/id/ENST00000287766 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0009986 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009986 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0030424 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030424 GO_component GO:0043005 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043005 GO_function GO:0005328 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005328 GO_function GO:0005332 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005332 GO_function GO:0046872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046872 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0006836 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006836 GO_process GO:0007268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007268 GO_process GO:0007612 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007612 GO_process GO:0009636 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009636 GO_process GO:0009744 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009744 GO_process GO:0010288 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010288 GO_process GO:0014054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014054 GO_process GO:0014074 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014074 GO_process GO:0015812 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015812 GO_process GO:0032229 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032229 GO_process GO:0032355 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032355 GO_process GO:0042220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042220 GO_process GO:0051260 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051260 GO_process GO:0051592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051592 GO_process GO:0051939 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051939 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GeneCards SLC6A1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC6A1 GeneID 6529 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6529 GeneTree ENSGT00760000118857 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118857 HGNC HGNC:11042 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11042 HOGENOM HOG000116406 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000116406&db=HOGENOM6 HOVERGEN HBG071421 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG071421&db=HOVERGEN HPA CAB022293 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB022293 HPA HPA013341 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA013341 InParanoid P30531 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P30531 IntAct P30531 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P30531* InterPro IPR000175 http://www.ebi.ac.uk/interpro/entry/IPR000175 InterPro IPR002980 http://www.ebi.ac.uk/interpro/entry/IPR002980 Jabion 6529 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6529 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:6529 http://www.genome.jp/dbget-bin/www_bget?hsa:6529 KEGG_Orthology KO:K05034 http://www.genome.jp/dbget-bin/www_bget?KO:K05034 KEGG_Pathway ko04727 http://www.genome.jp/kegg-bin/show_pathway?ko04727 MIM 137165 http://www.ncbi.nlm.nih.gov/omim/137165 MIM 616421 http://www.ncbi.nlm.nih.gov/omim/616421 OMA NCVNQYE http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=NCVNQYE OrthoDB EOG091G08PX http://cegg.unige.ch/orthodb/results?searchtext=EOG091G08PX PANTHER PTHR11616 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11616 PRINTS PR00176 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00176 PRINTS PR01195 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01195 PROSITE PS00610 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00610 PROSITE PS00754 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00754 PROSITE PS50267 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50267 PSORT swissprot:SC6A1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SC6A1_HUMAN PSORT-B swissprot:SC6A1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SC6A1_HUMAN PSORT2 swissprot:SC6A1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SC6A1_HUMAN Pfam PF00209 http://pfam.xfam.org/family/PF00209 PharmGKB PA309 http://www.pharmgkb.org/do/serve?objId=PA309&objCls=Gene Phobius swissprot:SC6A1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SC6A1_HUMAN PhylomeDB P30531 http://phylomedb.org/?seqid=P30531 ProteinModelPortal P30531 http://www.proteinmodelportal.org/query/uniprot/P30531 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16641997 http://www.ncbi.nlm.nih.gov/pubmed/16641997 PubMed 2387399 http://www.ncbi.nlm.nih.gov/pubmed/2387399 PubMed 25865495 http://www.ncbi.nlm.nih.gov/pubmed/25865495 Reactome R-HSA-442660 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-442660 Reactome R-HSA-888593 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-888593 RefSeq NP_003033 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_003033 RefSeq XP_005265467 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005265467 RefSeq XP_005265468 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005265468 RefSeq XP_006713369 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006713369 RefSeq XP_011532327 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011532327 RefSeq XP_011532329 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011532329 RefSeq XP_016862560 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016862560 RefSeq XP_016862561 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016862561 STRING 9606.ENSP00000287766 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000287766&targetmode=cogs TCDB 2.A.22.3 http://www.tcdb.org/search/result.php?tc=2.A.22.3 UCSC uc010hdq http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc010hdq&org=rat UniGene Hs.443874 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.443874 UniProtKB SC6A1_HUMAN http://www.uniprot.org/uniprot/SC6A1_HUMAN UniProtKB-AC P30531 http://www.uniprot.org/uniprot/P30531 charge swissprot:SC6A1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SC6A1_HUMAN eggNOG COG0733 http://eggnogapi.embl.de/nog_data/html/tree/COG0733 eggNOG KOG3659 http://eggnogapi.embl.de/nog_data/html/tree/KOG3659 epestfind swissprot:SC6A1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SC6A1_HUMAN garnier swissprot:SC6A1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SC6A1_HUMAN helixturnhelix swissprot:SC6A1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SC6A1_HUMAN hmoment swissprot:SC6A1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SC6A1_HUMAN iep swissprot:SC6A1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SC6A1_HUMAN inforesidue swissprot:SC6A1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SC6A1_HUMAN neXtProt NX_P30531 http://www.nextprot.org/db/entry/NX_P30531 octanol swissprot:SC6A1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SC6A1_HUMAN pepcoil swissprot:SC6A1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SC6A1_HUMAN pepdigest swissprot:SC6A1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SC6A1_HUMAN pepinfo swissprot:SC6A1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SC6A1_HUMAN pepnet swissprot:SC6A1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SC6A1_HUMAN pepstats swissprot:SC6A1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SC6A1_HUMAN pepwheel swissprot:SC6A1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SC6A1_HUMAN pepwindow swissprot:SC6A1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SC6A1_HUMAN sigcleave swissprot:SC6A1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SC6A1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS SO2B1_HUMAN Event=Alternative promoter usage, Alternative splicing; Named isoforms=4; Name=1; Synonyms=1b, FL; IsoId=O94956-1; Sequence=Displayed; Name=2; IsoId=O94956-2; Sequence=VSP_006147, VSP_006148; Note=No experimental confirmation available.; Name=3; Synonyms=1e, Short; IsoId=O94956-3; Sequence=VSP_054109; Note=Functional transporter. Predominant isoform in liver, expression at promoter is regulated by HNF4alpha.; Name=4; IsoId=O94956-4; Sequence=VSP_054110; Note=No experimental confirmation available.; # AltName SO2B1_HUMAN Organic anion transporter B # AltName SO2B1_HUMAN Organic anion transporter polypeptide-related protein 2 # AltName SO2B1_HUMAN Solute carrier family 21 member 9 # CCDS CCDS44683 -. [O94956-3] # CCDS CCDS53679 -. [O94956-4] # CCDS CCDS8235 -. [O94956-1] # CDD cd06174 MFS # ChiTaRS SLCO2B1 human # DrugBank DB00175 Pravastatin # DrugBank DB00286 Conjugated Estrogens # DrugBank DB00390 Digoxin # DrugBank DB00471 Montelukast # DrugBank DB00627 Niacin # DrugBank DB00654 Latanoprost # DrugBank DB00655 Estrone # DrugBank DB00770 Alprostadil # DrugBank DB00783 Estradiol # DrugBank DB00917 Dinoprostone # DrugBank DB00936 Salicylic acid # DrugBank DB00950 Fexofenadine # DrugBank DB01016 Glyburide # DrugBank DB01045 Rifampicin # DrugBank DB01049 Ergoloid mesylate # DrugBank DB01050 Ibuprofen # DrugBank DB01053 Benzylpenicillin # DrugBank DB01076 Atorvastatin # DrugBank DB01088 Iloprost # DrugBank DB01095 Fluvastatin # DrugBank DB01098 Rosuvastatin # DrugBank DB01124 Tolbutamide # DrugBank DB03166 Acetic acid # DrugBank DB03793 Benzoic Acid # DrugBank DB04398 Lactic Acid # DrugBank DB08860 Pitavastatin # Ensembl ENST00000428359 ENSP00000388912; ENSG00000137491 # Ensembl ENST00000454962 ENSP00000389653; ENSG00000137491 # ExpressionAtlas O94956 baseline and differential # FUNCTION SO2B1_HUMAN Mediates the Na(+)-independent transport of organic anions such as taurocholate, the prostaglandins PGD2, PGE1, PGE2, leukotriene C4, thromboxane B2 and iloprost. {ECO 0000250}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_function GO:0008514 organic anion transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0015125 bile acid transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015347 sodium-independent organic anion transmembrane transporter activity; IDA:UniProtKB. # GO_process GO:0015721 bile acid and bile salt transport; IBA:GO_Central. # GO_process GO:0043252 sodium-independent organic anion transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # Genevisible O94956 HS # HGNC HGNC:10962 SLCO2B1 # InterPro IPR002350 Kazal_dom # InterPro IPR004156 OA_transporter # InterPro IPR020846 MFS_dom # KEGG_Brite ko02001 Solute carrier family # MIM 604988 gene # Organism SO2B1_HUMAN Homo sapiens (Human) # PANTHER PTHR11388 PTHR11388 # PIR T17250 T17250 # PROSITE PS51465 KAZAL_2 # Pfam PF03137 OATP # Proteomes UP000005640 Chromosome 11 # Reactome R-HSA-879518 Transport of organic anions # RecName SO2B1_HUMAN Solute carrier organic anion transporter family member 2B1 # RefSeq NP_001138683 NM_001145211.2 # RefSeq NP_001138684 NM_001145212.2 # RefSeq NP_009187 NM_007256.4 # SEQUENCE CAUTION Sequence=BAA74903.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the organo anion transporter (TC 2.A.60) family. {ECO 0000305}. # SIMILARITY Contains 1 Kazal-like domain. {ECO:0000255|PROSITE- ProRule PRU00798}. # SUBCELLULAR LOCATION SO2B1_HUMAN Cell membrane; Multi-pass membrane protein. # SUPFAM SSF103473 SSF103473; 5 # TCDB 2.A.60.1.20 the organo anion transporter (oat) family # TIGRFAMs TIGR00805 oat # TISSUE SPECIFICITY Isoform 1 has it's highest expression in brain, it is the major form expressed in duodenum, kidney, placenta, and skeletal muscle. Isoform 3 predominates in liver. {ECO:0000269|PubMed 23531488}. # UCSC uc001owc human. [O94956-1] # eggNOG ENOG410XRSF LUCA # eggNOG KOG3626 Eukaryota BLAST swissprot:SO2B1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SO2B1_HUMAN BioCyc ZFISH:ENSG00000137491-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000137491-MONOMER COXPRESdb 11309 http://coxpresdb.jp/data/gene/11309.shtml CleanEx HS_SLCO2B1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLCO2B1 DOI 10.1006/bbrc.2000.2922 http://dx.doi.org/10.1006/bbrc.2000.2922 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature04632 http://dx.doi.org/10.1038/nature04632 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1093/dnares/5.6.355 http://dx.doi.org/10.1093/dnares/5.6.355 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1124/mol.105.019547 http://dx.doi.org/10.1124/mol.105.019547 DOI 10.1124/mol.112.083618 http://dx.doi.org/10.1124/mol.112.083618 DOI 10.1126/science.1133427 http://dx.doi.org/10.1126/science.1133427 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 DrugBank DB00175 http://www.drugbank.ca/drugs/DB00175 DrugBank DB00286 http://www.drugbank.ca/drugs/DB00286 DrugBank DB00390 http://www.drugbank.ca/drugs/DB00390 DrugBank DB00471 http://www.drugbank.ca/drugs/DB00471 DrugBank DB00627 http://www.drugbank.ca/drugs/DB00627 DrugBank DB00654 http://www.drugbank.ca/drugs/DB00654 DrugBank DB00655 http://www.drugbank.ca/drugs/DB00655 DrugBank DB00770 http://www.drugbank.ca/drugs/DB00770 DrugBank DB00783 http://www.drugbank.ca/drugs/DB00783 DrugBank DB00917 http://www.drugbank.ca/drugs/DB00917 DrugBank DB00936 http://www.drugbank.ca/drugs/DB00936 DrugBank DB00950 http://www.drugbank.ca/drugs/DB00950 DrugBank DB01016 http://www.drugbank.ca/drugs/DB01016 DrugBank DB01045 http://www.drugbank.ca/drugs/DB01045 DrugBank DB01049 http://www.drugbank.ca/drugs/DB01049 DrugBank DB01050 http://www.drugbank.ca/drugs/DB01050 DrugBank DB01053 http://www.drugbank.ca/drugs/DB01053 DrugBank DB01076 http://www.drugbank.ca/drugs/DB01076 DrugBank DB01088 http://www.drugbank.ca/drugs/DB01088 DrugBank DB01095 http://www.drugbank.ca/drugs/DB01095 DrugBank DB01098 http://www.drugbank.ca/drugs/DB01098 DrugBank DB01124 http://www.drugbank.ca/drugs/DB01124 DrugBank DB03166 http://www.drugbank.ca/drugs/DB03166 DrugBank DB03793 http://www.drugbank.ca/drugs/DB03793 DrugBank DB04398 http://www.drugbank.ca/drugs/DB04398 DrugBank DB08860 http://www.drugbank.ca/drugs/DB08860 EMBL AB020687 http://www.ebi.ac.uk/ena/data/view/AB020687 EMBL AB026256 http://www.ebi.ac.uk/ena/data/view/AB026256 EMBL AF205073 http://www.ebi.ac.uk/ena/data/view/AF205073 EMBL AK290234 http://www.ebi.ac.uk/ena/data/view/AK290234 EMBL AK294503 http://www.ebi.ac.uk/ena/data/view/AK294503 EMBL AK300134 http://www.ebi.ac.uk/ena/data/view/AK300134 EMBL AL117465 http://www.ebi.ac.uk/ena/data/view/AL117465 EMBL AP001972 http://www.ebi.ac.uk/ena/data/view/AP001972 EMBL BC041095 http://www.ebi.ac.uk/ena/data/view/BC041095 Ensembl ENST00000428359 http://www.ensembl.org/id/ENST00000428359 Ensembl ENST00000454962 http://www.ensembl.org/id/ENST00000454962 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0008514 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008514 GO_function GO:0015125 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015125 GO_function GO:0015347 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015347 GO_process GO:0015721 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015721 GO_process GO:0043252 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043252 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GeneCards SLCO2B1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLCO2B1 GeneID 11309 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=11309 HGNC HGNC:10962 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10962 HOGENOM HOG000231269 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231269&db=HOGENOM6 HOVERGEN HBG108345 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG108345&db=HOVERGEN HPA HPA020659 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA020659 InParanoid O94956 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O94956 InterPro IPR002350 http://www.ebi.ac.uk/interpro/entry/IPR002350 InterPro IPR004156 http://www.ebi.ac.uk/interpro/entry/IPR004156 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 11309 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=11309 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:11309 http://www.genome.jp/dbget-bin/www_bget?hsa:11309 KEGG_Orthology KO:K14352 http://www.genome.jp/dbget-bin/www_bget?KO:K14352 MIM 604988 http://www.ncbi.nlm.nih.gov/omim/604988 PANTHER PTHR11388 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11388 PROSITE PS51465 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51465 PSORT swissprot:SO2B1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SO2B1_HUMAN PSORT-B swissprot:SO2B1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SO2B1_HUMAN PSORT2 swissprot:SO2B1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SO2B1_HUMAN Pfam PF03137 http://pfam.xfam.org/family/PF03137 PharmGKB PA35845 http://www.pharmgkb.org/do/serve?objId=PA35845&objCls=Gene Phobius swissprot:SO2B1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SO2B1_HUMAN PhylomeDB O94956 http://phylomedb.org/?seqid=O94956 ProteinModelPortal O94956 http://www.proteinmodelportal.org/query/uniprot/O94956 PubMed 10048485 http://www.ncbi.nlm.nih.gov/pubmed/10048485 PubMed 10873595 http://www.ncbi.nlm.nih.gov/pubmed/10873595 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16554811 http://www.ncbi.nlm.nih.gov/pubmed/16554811 PubMed 16754786 http://www.ncbi.nlm.nih.gov/pubmed/16754786 PubMed 16959974 http://www.ncbi.nlm.nih.gov/pubmed/16959974 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 23531488 http://www.ncbi.nlm.nih.gov/pubmed/23531488 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 Reactome R-HSA-879518 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-879518 RefSeq NP_001138683 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001138683 RefSeq NP_001138684 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001138684 RefSeq NP_009187 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_009187 STRING 9606.ENSP00000289575 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000289575&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.60.1.20 http://www.tcdb.org/search/result.php?tc=2.A.60.1.20 TIGRFAMs TIGR00805 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00805 UCSC uc001owc http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001owc&org=rat UniGene Hs.7884 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.7884 UniProtKB SO2B1_HUMAN http://www.uniprot.org/uniprot/SO2B1_HUMAN UniProtKB-AC O94956 http://www.uniprot.org/uniprot/O94956 charge swissprot:SO2B1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SO2B1_HUMAN eggNOG ENOG410XRSF http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XRSF eggNOG KOG3626 http://eggnogapi.embl.de/nog_data/html/tree/KOG3626 epestfind swissprot:SO2B1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SO2B1_HUMAN garnier swissprot:SO2B1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SO2B1_HUMAN helixturnhelix swissprot:SO2B1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SO2B1_HUMAN hmoment swissprot:SO2B1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SO2B1_HUMAN iep swissprot:SO2B1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SO2B1_HUMAN inforesidue swissprot:SO2B1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SO2B1_HUMAN neXtProt NX_O94956 http://www.nextprot.org/db/entry/NX_O94956 octanol swissprot:SO2B1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SO2B1_HUMAN pepcoil swissprot:SO2B1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SO2B1_HUMAN pepdigest swissprot:SO2B1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SO2B1_HUMAN pepinfo swissprot:SO2B1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SO2B1_HUMAN pepnet swissprot:SO2B1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SO2B1_HUMAN pepstats swissprot:SO2B1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SO2B1_HUMAN pepwheel swissprot:SO2B1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SO2B1_HUMAN pepwindow swissprot:SO2B1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SO2B1_HUMAN sigcleave swissprot:SO2B1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SO2B1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS KCNK4_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=KT4.1a; IsoId=Q9NYG8-1; Sequence=Displayed; Name=2; Synonyms=KT4.1b; IsoId=Q9NYG8-2; Sequence=VSP_006689; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; # AltName KCNK4_HUMAN Two pore potassium channel KT4.1 # AltName TWIK-related arachidonic acid-stimulated potassium channel protein {ECO:0000303|PubMed 23341632} # BioGrid 119122 2 # CCDS CCDS8067 -. [Q9NYG8-1] # DOMAIN KCNK4_HUMAN Channel opening is brought about by a conformation change that involves buckling of the second transmembrane helix and affects the position and orientation of the fourth transmembrane helix. {ECO 0000269|PubMed 25471887, ECO 0000269|PubMed 25500157}. # ENZYME REGULATION KCNK4_HUMAN Activated by arachidonic acid. {ECO 0000269|PubMed 22282805, ECO 0000269|PubMed 25500157}. # Ensembl ENST00000394525 ENSP00000378033; ENSG00000182450. [Q9NYG8-1] # Ensembl ENST00000422670 ENSP00000402797; ENSG00000182450. [Q9NYG8-1] # Ensembl ENST00000539216 ENSP00000444948; ENSG00000182450. [Q9NYG8-1] # ExpressionAtlas Q9NYG8 baseline and differential # FUNCTION KCNK4_HUMAN Voltage-insensitive potassium channel (PubMed 22282805). Channel opening is triggered by mechanical forces that deform the membrane (PubMed 22282805, PubMed 25471887, PubMed 25500157). Channel opening is triggered by raising the intracellular pH to basic levels (By similarity). The channel is inactive at 24 degrees Celsius (in vitro); raising the temperature to 37 degrees Celsius increases the frequency of channel opening, with a further increase in channel activity when the temperature is raised to 42 degrees Celsius (By similarity). Plays a role in the perception of pain caused by heat (By similarity). Plays a role in the sensory perception of pain caused by pressure (By similarity). {ECO 0000250|UniProtKB G3V8V5, ECO 0000250|UniProtKB O88454, ECO 0000269|PubMed 22282805, ECO 0000269|PubMed 25471887, ECO 0000269|PubMed 25500157}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IMP:UniProtKB. # GO_component GO:0034705 potassium channel complex; IDA:UniProtKB. # GO_function GO:0005244 voltage-gated ion channel activity; IEA:UniProtKB-KW. # GO_function GO:0005267 potassium channel activity; IDA:UniProtKB. # GO_function GO:0022841 potassium ion leak channel activity; IBA:GO_Central. # GO_function GO:0097604 temperature-gated cation channel activity; ISS:UniProtKB. # GO_function GO:0098782 mechanically-gated potassium channel activity; IDA:UniProtKB. # GO_process GO:0006813 potassium ion transport; TAS:ProtInc. # GO_process GO:0007613 memory; IEA:Ensembl. # GO_process GO:0019233 sensory perception of pain; ISS:UniProtKB. # GO_process GO:0030322 stabilization of membrane potential; IBA:GO_Central. # GO_process GO:0050951 sensory perception of temperature stimulus; ISS:UniProtKB. # GO_process GO:0050976 detection of mechanical stimulus involved in sensory perception of touch; ISS:UniProtKB. # GO_process GO:0071260 cellular response to mechanical stimulus; IDA:UniProtKB. # GO_process GO:0071398 cellular response to fatty acid; IDA:UniProtKB. # GO_process GO:0071469 cellular response to alkaline pH; ISS:UniProtKB. # GO_process GO:0071502 cellular response to temperature stimulus; ISS:UniProtKB. # GO_process GO:0071805 potassium ion transmembrane transport; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0050877 neurological system process # GOslim_process GO:0055085 transmembrane transport # Genevisible Q9NYG8 HS # HGNC HGNC:6279 KCNK4 # IntAct Q9NYG8 2 # InterPro IPR003280 2pore_dom_K_chnl # InterPro IPR008074 2pore_dom_K_chnl_TRAAK # InterPro IPR013099 K_chnl_dom # KEGG_Brite ko04040 Ion channels # MIM 605720 gene # Organism KCNK4_HUMAN Homo sapiens (Human) # PDB 3UM7 X-ray; 3.31 A; A/B=1-274 # PDB 4I9W X-ray; 2.75 A; A/B=1-274 # PDB 4RUE X-ray; 3.30 A; A/B=1-274 # PDB 4RUF X-ray; 3.40 A; A/B=1-274 # PDB 4WFE X-ray; 2.50 A; A/B=1-264 # PDB 4WFF X-ray; 2.50 A; A/B=1-264 # PDB 4WFG X-ray; 3.00 A; A/B=1-264 # PDB 4WFH X-ray; 3.01 A; A/B=1-264 # PRINTS PR01333 2POREKCHANEL # PRINTS PR01691 TRAAKCHANNEL # PTM KCNK4_HUMAN N-glycosylated. {ECO 0000269|PubMed 22282805}. # Pfam PF07885 Ion_trans_2; 2 # Proteomes UP000005640 Chromosome 11 # Reactome R-HSA-1299503 TWIK related potassium channel (TREK) # Reactome R-HSA-5576886 Phase 4 - resting membrane potential # RecName KCNK4_HUMAN Potassium channel subfamily K member 4 # RefSeq NP_001304019 NM_001317090.1. [Q9NYG8-1] # RefSeq NP_201567 NM_033310.2. [Q9NYG8-1] # SIMILARITY Belongs to the two pore domain potassium channel (TC 1.A.1.8) family. {ECO 0000305}. # SUBCELLULAR LOCATION KCNK4_HUMAN Cell membrane {ECO 0000269|PubMed 22282805, ECO 0000269|PubMed 23341632, ECO 0000269|PubMed 25471887, ECO 0000269|PubMed 25500157}; Multi-pass membrane protein {ECO 0000269|PubMed 22282805, ECO 0000269|PubMed 23341632, ECO 0000269|PubMed 25471887, ECO 0000269|PubMed 25500157}. # SUBUNIT KCNK4_HUMAN Homodimer; disulfide-linked. {ECO 0000269|PubMed 22282805, ECO 0000269|PubMed 23341632, ECO 0000269|PubMed 25471887, ECO 0000269|PubMed 25500157}. # UCSC uc001nzj human. [Q9NYG8-1] # eggNOG COG1226 LUCA # eggNOG KOG1418 Eukaryota BLAST swissprot:KCNK4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCNK4_HUMAN BioCyc ZFISH:ENSG00000004469-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000004469-MONOMER COXPRESdb 50801 http://coxpresdb.jp/data/gene/50801.shtml CleanEx HS_KCNK4 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNK4 DIP DIP-61343N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-61343N DOI 10.1016/S0014-5793(00)01388-0 http://dx.doi.org/10.1016/S0014-5793(00)01388-0 DOI 10.1016/S0169-328X(00)00183-2 http://dx.doi.org/10.1016/S0169-328X(00)00183-2 DOI 10.1016/S0169-328X(02)00157-2 http://dx.doi.org/10.1016/S0169-328X(02)00157-2 DOI 10.1016/j.neuron.2014.11.017 http://dx.doi.org/10.1016/j.neuron.2014.11.017 DOI 10.1038/nature04632 http://dx.doi.org/10.1038/nature04632 DOI 10.1038/nature14013 http://dx.doi.org/10.1038/nature14013 DOI 10.1073/pnas.1218950110 http://dx.doi.org/10.1073/pnas.1218950110 DOI 10.1126/science.1213808 http://dx.doi.org/10.1126/science.1213808 DOI 10.1186/gb-2004-5-2-r8 http://dx.doi.org/10.1186/gb-2004-5-2-r8 EMBL AF247042 http://www.ebi.ac.uk/ena/data/view/AF247042 EMBL AF248242 http://www.ebi.ac.uk/ena/data/view/AF248242 EMBL AF259500 http://www.ebi.ac.uk/ena/data/view/AF259500 EMBL AF259501 http://www.ebi.ac.uk/ena/data/view/AF259501 EMBL CH471076 http://www.ebi.ac.uk/ena/data/view/CH471076 EMBL EU978935 http://www.ebi.ac.uk/ena/data/view/EU978935 Ensembl ENST00000394525 http://www.ensembl.org/id/ENST00000394525 Ensembl ENST00000422670 http://www.ensembl.org/id/ENST00000422670 Ensembl ENST00000539216 http://www.ensembl.org/id/ENST00000539216 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0034705 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034705 GO_function GO:0005244 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005244 GO_function GO:0005267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005267 GO_function GO:0022841 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022841 GO_function GO:0097604 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097604 GO_function GO:0098782 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0098782 GO_process GO:0006813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006813 GO_process GO:0007613 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007613 GO_process GO:0019233 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019233 GO_process GO:0030322 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030322 GO_process GO:0050951 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050951 GO_process GO:0050976 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050976 GO_process GO:0071260 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071260 GO_process GO:0071398 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071398 GO_process GO:0071469 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071469 GO_process GO:0071502 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071502 GO_process GO:0071805 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071805 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards KCNK4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNK4 GeneID 50801 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=50801 GeneTree ENSGT00760000118858 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118858 HGNC HGNC:6279 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6279 HOGENOM HOG000013106 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000013106&db=HOGENOM6 HOVERGEN HBG052234 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052234&db=HOVERGEN HPA CAB025086 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB025086 InParanoid Q9NYG8 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9NYG8 IntAct Q9NYG8 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9NYG8* InterPro IPR003280 http://www.ebi.ac.uk/interpro/entry/IPR003280 InterPro IPR008074 http://www.ebi.ac.uk/interpro/entry/IPR008074 InterPro IPR013099 http://www.ebi.ac.uk/interpro/entry/IPR013099 Jabion 50801 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=50801 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:50801 http://www.genome.jp/dbget-bin/www_bget?hsa:50801 KEGG_Orthology KO:K04915 http://www.genome.jp/dbget-bin/www_bget?KO:K04915 MIM 605720 http://www.ncbi.nlm.nih.gov/omim/605720 OMA LDYPSEN http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=LDYPSEN OrthoDB EOG091G0E3R http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0E3R PDB 3UM7 http://www.ebi.ac.uk/pdbe-srv/view/entry/3UM7 PDB 4I9W http://www.ebi.ac.uk/pdbe-srv/view/entry/4I9W PDB 4RUE http://www.ebi.ac.uk/pdbe-srv/view/entry/4RUE PDB 4RUF http://www.ebi.ac.uk/pdbe-srv/view/entry/4RUF PDB 4WFE http://www.ebi.ac.uk/pdbe-srv/view/entry/4WFE PDB 4WFF http://www.ebi.ac.uk/pdbe-srv/view/entry/4WFF PDB 4WFG http://www.ebi.ac.uk/pdbe-srv/view/entry/4WFG PDB 4WFH http://www.ebi.ac.uk/pdbe-srv/view/entry/4WFH PDBsum 3UM7 http://www.ebi.ac.uk/pdbsum/3UM7 PDBsum 4I9W http://www.ebi.ac.uk/pdbsum/4I9W PDBsum 4RUE http://www.ebi.ac.uk/pdbsum/4RUE PDBsum 4RUF http://www.ebi.ac.uk/pdbsum/4RUF PDBsum 4WFE http://www.ebi.ac.uk/pdbsum/4WFE PDBsum 4WFF http://www.ebi.ac.uk/pdbsum/4WFF PDBsum 4WFG http://www.ebi.ac.uk/pdbsum/4WFG PDBsum 4WFH http://www.ebi.ac.uk/pdbsum/4WFH PRINTS PR01333 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01333 PRINTS PR01691 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01691 PSORT swissprot:KCNK4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCNK4_HUMAN PSORT-B swissprot:KCNK4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCNK4_HUMAN PSORT2 swissprot:KCNK4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCNK4_HUMAN Pfam PF07885 http://pfam.xfam.org/family/PF07885 PharmGKB PA30061 http://www.pharmgkb.org/do/serve?objId=PA30061&objCls=Gene Phobius swissprot:KCNK4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCNK4_HUMAN PhylomeDB Q9NYG8 http://phylomedb.org/?seqid=Q9NYG8 ProteinModelPortal Q9NYG8 http://www.proteinmodelportal.org/query/uniprot/Q9NYG8 PubMed 10767409 http://www.ncbi.nlm.nih.gov/pubmed/10767409 PubMed 11042359 http://www.ncbi.nlm.nih.gov/pubmed/11042359 PubMed 12191490 http://www.ncbi.nlm.nih.gov/pubmed/12191490 PubMed 14759258 http://www.ncbi.nlm.nih.gov/pubmed/14759258 PubMed 16554811 http://www.ncbi.nlm.nih.gov/pubmed/16554811 PubMed 22282805 http://www.ncbi.nlm.nih.gov/pubmed/22282805 PubMed 23341632 http://www.ncbi.nlm.nih.gov/pubmed/23341632 PubMed 25471887 http://www.ncbi.nlm.nih.gov/pubmed/25471887 PubMed 25500157 http://www.ncbi.nlm.nih.gov/pubmed/25500157 Reactome R-HSA-1299503 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1299503 Reactome R-HSA-5576886 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576886 RefSeq NP_001304019 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001304019 RefSeq NP_201567 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_201567 SMR Q9NYG8 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9NYG8 STRING 9606.ENSP00000378033 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000378033&targetmode=cogs UCSC uc001nzj http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001nzj&org=rat UniGene Hs.647233 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.647233 UniProtKB KCNK4_HUMAN http://www.uniprot.org/uniprot/KCNK4_HUMAN UniProtKB-AC Q9NYG8 http://www.uniprot.org/uniprot/Q9NYG8 charge swissprot:KCNK4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCNK4_HUMAN eggNOG COG1226 http://eggnogapi.embl.de/nog_data/html/tree/COG1226 eggNOG KOG1418 http://eggnogapi.embl.de/nog_data/html/tree/KOG1418 epestfind swissprot:KCNK4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCNK4_HUMAN garnier swissprot:KCNK4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCNK4_HUMAN helixturnhelix swissprot:KCNK4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCNK4_HUMAN hmoment swissprot:KCNK4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCNK4_HUMAN iep swissprot:KCNK4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCNK4_HUMAN inforesidue swissprot:KCNK4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCNK4_HUMAN neXtProt NX_Q9NYG8 http://www.nextprot.org/db/entry/NX_Q9NYG8 octanol swissprot:KCNK4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCNK4_HUMAN pepcoil swissprot:KCNK4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCNK4_HUMAN pepdigest swissprot:KCNK4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCNK4_HUMAN pepinfo swissprot:KCNK4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCNK4_HUMAN pepnet swissprot:KCNK4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCNK4_HUMAN pepstats swissprot:KCNK4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCNK4_HUMAN pepwheel swissprot:KCNK4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCNK4_HUMAN pepwindow swissprot:KCNK4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCNK4_HUMAN sigcleave swissprot:KCNK4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCNK4_HUMAN ## Database ID URL or Descriptions # AltName S35A4_HUMAN Solute carrier family 35 member A4 # ChiTaRS SLC35A4 human # Ensembl ENST00000323146 ENSP00000327133; ENSG00000176087 # Ensembl ENST00000514199 ENSP00000424566; ENSG00000176087 # Ensembl ENST00000612662 ENSP00000479255; ENSG00000176087 # ExpressionAtlas Q96G79 baseline and differential # GO_component GO:0000139 Golgi membrane; IEA:InterPro. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function S35A4_HUMAN GO 0005351 sugar proton symporter activity; IEA InterPro. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # Genevisible Q96G79 HS # HGNC HGNC:20753 SLC35A4 # InterPro IPR007271 Nuc_sug_transpt # KEGG_Brite ko02001 Solute carrier family # MISCELLANEOUS S35A4_HUMAN Classified as NST family 1 subfamily D in a phylogenic study. Family 1 seems to be the most recent in evolution. # Organism S35A4_HUMAN Homo sapiens (Human) # PANTHER PTHR10231 PTHR10231 # PIRSF PIRSF005799 UDP-gal_transpt # Pfam PF04142 Nuc_sug_transp # Proteomes UP000005640 Chromosome 5 # RecName S35A4_HUMAN Probable UDP-sugar transporter protein SLC35A4 # RefSeq NP_542401 NM_080670.3 # SIMILARITY Belongs to the nucleotide-sugar transporter family. SLC35A subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION S35A4_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. Golgi apparatus {ECO 0000250}. # TCDB 2.A.7.12.12 the drug/metabolite transporter (dmt) superfamily # UCSC uc003lgg human # eggNOG COG0697 LUCA # eggNOG KOG2234 Eukaryota BLAST swissprot:S35A4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S35A4_HUMAN BioCyc ZFISH:ENSG00000176087-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000176087-MONOMER COXPRESdb 113829 http://coxpresdb.jp/data/gene/113829.shtml CleanEx HS_SLC35A4 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC35A4 DOI 10.1016/S0300-9084(03)00046-4 http://dx.doi.org/10.1016/S0300-9084(03)00046-4 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 EMBL AK289378 http://www.ebi.ac.uk/ena/data/view/AK289378 EMBL AL833972 http://www.ebi.ac.uk/ena/data/view/AL833972 EMBL BC009906 http://www.ebi.ac.uk/ena/data/view/BC009906 EMBL CH471062 http://www.ebi.ac.uk/ena/data/view/CH471062 Ensembl ENST00000323146 http://www.ensembl.org/id/ENST00000323146 Ensembl ENST00000514199 http://www.ensembl.org/id/ENST00000514199 Ensembl ENST00000612662 http://www.ensembl.org/id/ENST00000612662 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000139 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005351 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005351 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GeneCards SLC35A4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC35A4 GeneID 113829 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=113829 GeneTree ENSGT00550000074563 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074563 HGNC HGNC:20753 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:20753 HOGENOM HOG000154235 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000154235&db=HOGENOM6 HOVERGEN HBG108445 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG108445&db=HOVERGEN HPA HPA062210 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA062210 InParanoid Q96G79 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q96G79 IntAct Q96G79 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q96G79* InterPro IPR007271 http://www.ebi.ac.uk/interpro/entry/IPR007271 Jabion 113829 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=113829 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:113829 http://www.genome.jp/dbget-bin/www_bget?hsa:113829 KEGG_Orthology KO:K15273 http://www.genome.jp/dbget-bin/www_bget?KO:K15273 OMA ALCHVNG http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=ALCHVNG OrthoDB EOG091G0BN0 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0BN0 PANTHER PTHR10231 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10231 PSORT swissprot:S35A4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S35A4_HUMAN PSORT-B swissprot:S35A4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S35A4_HUMAN PSORT2 swissprot:S35A4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S35A4_HUMAN Pfam PF04142 http://pfam.xfam.org/family/PF04142 PharmGKB PA134971555 http://www.pharmgkb.org/do/serve?objId=PA134971555&objCls=Gene Phobius swissprot:S35A4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S35A4_HUMAN PhylomeDB Q96G79 http://phylomedb.org/?seqid=Q96G79 ProteinModelPortal Q96G79 http://www.proteinmodelportal.org/query/uniprot/Q96G79 PubMed 12770764 http://www.ncbi.nlm.nih.gov/pubmed/12770764 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 RefSeq NP_542401 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_542401 STRING 9606.ENSP00000327133 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000327133&targetmode=cogs TCDB 2.A.7.12.12 http://www.tcdb.org/search/result.php?tc=2.A.7.12.12 UCSC uc003lgg http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003lgg&org=rat UniGene Hs.406840 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.406840 UniProtKB S35A4_HUMAN http://www.uniprot.org/uniprot/S35A4_HUMAN UniProtKB-AC Q96G79 http://www.uniprot.org/uniprot/Q96G79 charge swissprot:S35A4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S35A4_HUMAN eggNOG COG0697 http://eggnogapi.embl.de/nog_data/html/tree/COG0697 eggNOG KOG2234 http://eggnogapi.embl.de/nog_data/html/tree/KOG2234 epestfind swissprot:S35A4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S35A4_HUMAN garnier swissprot:S35A4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S35A4_HUMAN helixturnhelix swissprot:S35A4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S35A4_HUMAN hmoment swissprot:S35A4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S35A4_HUMAN iep swissprot:S35A4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S35A4_HUMAN inforesidue swissprot:S35A4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S35A4_HUMAN neXtProt NX_Q96G79 http://www.nextprot.org/db/entry/NX_Q96G79 octanol swissprot:S35A4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S35A4_HUMAN pepcoil swissprot:S35A4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S35A4_HUMAN pepdigest swissprot:S35A4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S35A4_HUMAN pepinfo swissprot:S35A4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S35A4_HUMAN pepnet swissprot:S35A4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S35A4_HUMAN pepstats swissprot:S35A4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S35A4_HUMAN pepwheel swissprot:S35A4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S35A4_HUMAN pepwindow swissprot:S35A4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S35A4_HUMAN sigcleave swissprot:S35A4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S35A4_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS TP4AP_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q8TEL6-1; Sequence=Displayed; Name=2; IsoId=Q8TEL6-2; Sequence=VSP_003982; Note=No experimental confirmation available.; Name=3; IsoId=Q8TEL6-3; Sequence=VSP_054231; # AltName TP4AP_HUMAN Protein TAP1 # AltName TP4AP_HUMAN TNF-receptor ubiquitous scaffolding/signaling protein # BioGrid 117569 45 # CCDS CCDS13246 -. [Q8TEL6-1] # CCDS CCDS46591 -. [Q8TEL6-3] # ChiTaRS TRPC4AP human # Ensembl ENST00000252015 ENSP00000252015; ENSG00000100991. [Q8TEL6-1] # Ensembl ENST00000451813 ENSP00000400614; ENSG00000100991. [Q8TEL6-3] # FUNCTION TP4AP_HUMAN Substrate-specific adapter of a DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complex required for cell cycle control. The DCX(TRUSS) complex specifically mediates the polyubiquitination and subsequent degradation of MYC. Also participates in the activation of NFKB1 in response to ligation of TNFRSF1A, possibly by linking TNFRSF1A to the IKK signalosome. Involved in JNK activation via its interaction with TRAF2. Also involved in elevation of endoplasmic reticulum Ca(2+) storage reduction in response to CHRM1. {ECO 0000269|PubMed 20551172}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0031464 Cul4A-RING E3 ubiquitin ligase complex; IDA:UniProtKB. # GO_function GO:0005262 calcium channel activity; TAS:Reactome. # GO_function GO:0019902 phosphatase binding; IDA:UniProtKB. # GO_process GO:0006511 ubiquitin-dependent protein catabolic process; IDA:UniProtKB. # GO_process GO:0016567 protein ubiquitination; IDA:UniProtKB. # GO_process GO:0070588 calcium ion transmembrane transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0019899 enzyme binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006464 cellular protein modification process # GOslim_process GO:0009056 catabolic process # GOslim_process GO:0055085 transmembrane transport # Genevisible Q8TEL6 HS # HGNC HGNC:16181 TRPC4AP # INTERACTION TP4AP_HUMAN P62136 PPP1CA; NbExp=2; IntAct=EBI-2559060, EBI-357253; # IntAct Q8TEL6 13 # InterPro IPR016024 ARM-type_fold # InterPro IPR022162 DUF3689 # KEGG_Brite ko04121 Ubiquitin system # MIM 608430 gene # Organism TP4AP_HUMAN Homo sapiens (Human) # PATHWAY TP4AP_HUMAN Protein modification; protein ubiquitination. # PIR T17263 T17263 # Pfam PF12463 DUF3689 # Proteomes UP000005640 Chromosome 20 # Reactome R-HSA-3295583 TRP channels # RecName TP4AP_HUMAN Short transient receptor potential channel 4-associated protein # RefSeq NP_056453 NM_015638.2. [Q8TEL6-1] # RefSeq NP_955400 NM_199368.1. [Q8TEL6-3] # SEQUENCE CAUTION Sequence=BAB84932.1; Type=Frameshift; Positions=43; Evidence={ECO 0000305}; # SUBUNIT TP4AP_HUMAN Constitutively associated with TNFRSF1A. Directly interacts with TRADD, TRAF2, CHUK, IKBKB and IKBKG. Interacts with TRPC1, TRPC4 and TRPC5 (By similarity). Component of the DCX(TRUSS) E3 ubiquitin ligase complex, at least composed of CUL4A, DDB1, TRPC4AP/TRUSS and RBX1. Interacts directly with DDB1. Interacts with MYC. {ECO 0000250|UniProtKB Q9JLV2, ECO 0000269|PubMed 19966799, ECO 0000269|PubMed 20551172}. # SUPFAM SSF48371 SSF48371; 4 # UCSC uc002xbk human. [Q8TEL6-1] # eggNOG ENOG410IH9D Eukaryota # eggNOG ENOG410ZAXR LUCA BLAST swissprot:TP4AP_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:TP4AP_HUMAN BioCyc ZFISH:ENSG00000100991-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000100991-MONOMER COXPRESdb 26133 http://coxpresdb.jp/data/gene/26133.shtml CleanEx HS_TRPC4AP http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_TRPC4AP DIP DIP-42719N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-42719N DOI 10.1038/414865a http://dx.doi.org/10.1038/414865a DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1038/nsmb.1719 http://dx.doi.org/10.1038/nsmb.1719 DOI 10.1073/pnas.1210303109 http://dx.doi.org/10.1073/pnas.1210303109 DOI 10.1101/gad.1920310 http://dx.doi.org/10.1101/gad.1920310 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 EMBL AB590540 http://www.ebi.ac.uk/ena/data/view/AB590540 EMBL AK074106 http://www.ebi.ac.uk/ena/data/view/AK074106 EMBL AL117480 http://www.ebi.ac.uk/ena/data/view/AL117480 EMBL AL132825 http://www.ebi.ac.uk/ena/data/view/AL132825 EMBL BC001323 http://www.ebi.ac.uk/ena/data/view/BC001323 EMBL BC008836 http://www.ebi.ac.uk/ena/data/view/BC008836 EMBL BC013144 http://www.ebi.ac.uk/ena/data/view/BC013144 EMBL CH471077 http://www.ebi.ac.uk/ena/data/view/CH471077 EMBL CH471077 http://www.ebi.ac.uk/ena/data/view/CH471077 EMBL CH471077 http://www.ebi.ac.uk/ena/data/view/CH471077 EMBL CH471077 http://www.ebi.ac.uk/ena/data/view/CH471077 Ensembl ENST00000252015 http://www.ensembl.org/id/ENST00000252015 Ensembl ENST00000451813 http://www.ensembl.org/id/ENST00000451813 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0031464 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031464 GO_function GO:0005262 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005262 GO_function GO:0019902 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019902 GO_process GO:0006511 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006511 GO_process GO:0016567 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016567 GO_process GO:0070588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070588 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006464 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006464 GOslim_process GO:0009056 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009056 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards TRPC4AP http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=TRPC4AP GeneID 26133 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=26133 GeneTree ENSGT00390000018330 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000018330 HGNC HGNC:16181 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:16181 HOGENOM HOG000231794 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231794&db=HOGENOM6 HOVERGEN HBG059886 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG059886&db=HOVERGEN HPA HPA051197 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA051197 InParanoid Q8TEL6 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8TEL6 IntAct Q8TEL6 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q8TEL6* InterPro IPR016024 http://www.ebi.ac.uk/interpro/entry/IPR016024 InterPro IPR022162 http://www.ebi.ac.uk/interpro/entry/IPR022162 Jabion 26133 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=26133 KEGG_Brite ko04121 http://www.genome.jp/dbget-bin/www_bget?ko04121 KEGG_Gene hsa:26133 http://www.genome.jp/dbget-bin/www_bget?hsa:26133 KEGG_Orthology KO:K11796 http://www.genome.jp/dbget-bin/www_bget?KO:K11796 MIM 608430 http://www.ncbi.nlm.nih.gov/omim/608430 MINT MINT-2844857 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-2844857 OMA QESTFPN http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=QESTFPN OrthoDB EOG091G02AE http://cegg.unige.ch/orthodb/results?searchtext=EOG091G02AE PSORT swissprot:TP4AP_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:TP4AP_HUMAN PSORT-B swissprot:TP4AP_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:TP4AP_HUMAN PSORT2 swissprot:TP4AP_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:TP4AP_HUMAN Pfam PF12463 http://pfam.xfam.org/family/PF12463 PharmGKB PA25730 http://www.pharmgkb.org/do/serve?objId=PA25730&objCls=Gene Phobius swissprot:TP4AP_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:TP4AP_HUMAN PhylomeDB Q8TEL6 http://phylomedb.org/?seqid=Q8TEL6 ProteinModelPortal Q8TEL6 http://www.proteinmodelportal.org/query/uniprot/Q8TEL6 PubMed 11780052 http://www.ncbi.nlm.nih.gov/pubmed/11780052 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 PubMed 19966799 http://www.ncbi.nlm.nih.gov/pubmed/19966799 PubMed 20551172 http://www.ncbi.nlm.nih.gov/pubmed/20551172 PubMed 22814378 http://www.ncbi.nlm.nih.gov/pubmed/22814378 Reactome R-HSA-3295583 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-3295583 RefSeq NP_056453 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_056453 RefSeq NP_955400 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_955400 STRING 9606.ENSP00000252015 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000252015&targetmode=cogs SUPFAM SSF48371 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48371 UCSC uc002xbk http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002xbk&org=rat UniGene Hs.168073 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.168073 UniProtKB TP4AP_HUMAN http://www.uniprot.org/uniprot/TP4AP_HUMAN UniProtKB-AC Q8TEL6 http://www.uniprot.org/uniprot/Q8TEL6 charge swissprot:TP4AP_HUMAN http://rest.g-language.org/emboss/charge/swissprot:TP4AP_HUMAN eggNOG ENOG410IH9D http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IH9D eggNOG ENOG410ZAXR http://eggnogapi.embl.de/nog_data/html/tree/ENOG410ZAXR epestfind swissprot:TP4AP_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:TP4AP_HUMAN garnier swissprot:TP4AP_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:TP4AP_HUMAN helixturnhelix swissprot:TP4AP_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:TP4AP_HUMAN hmoment swissprot:TP4AP_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:TP4AP_HUMAN iep swissprot:TP4AP_HUMAN http://rest.g-language.org/emboss/iep/swissprot:TP4AP_HUMAN inforesidue swissprot:TP4AP_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:TP4AP_HUMAN neXtProt NX_Q8TEL6 http://www.nextprot.org/db/entry/NX_Q8TEL6 octanol swissprot:TP4AP_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:TP4AP_HUMAN pepcoil swissprot:TP4AP_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:TP4AP_HUMAN pepdigest swissprot:TP4AP_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:TP4AP_HUMAN pepinfo swissprot:TP4AP_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:TP4AP_HUMAN pepnet swissprot:TP4AP_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:TP4AP_HUMAN pepstats swissprot:TP4AP_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:TP4AP_HUMAN pepwheel swissprot:TP4AP_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:TP4AP_HUMAN pepwindow swissprot:TP4AP_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:TP4AP_HUMAN sigcleave swissprot:TP4AP_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:TP4AP_HUMAN ## Database ID URL or Descriptions # AltName KCMB2_HUMAN BK channel subunit beta-2 # AltName KCMB2_HUMAN Calcium-activated potassium channel, subfamily M subunit beta-2 # AltName KCMB2_HUMAN Charybdotoxin receptor subunit beta-2 # AltName KCMB2_HUMAN Hbeta3 # AltName KCMB2_HUMAN K(VCA)beta-2 # AltName KCMB2_HUMAN Maxi K channel subunit beta-2 # AltName KCMB2_HUMAN Slo-beta-2 # DOMAIN KCMB2_HUMAN The ball and chain domain mediates the inactivation of KCNMA1. It occludes the conduction pathway of KCNMA1 channels, and comprises the pore-blocking ball domain (residues 1-17) and the chain domain (residues 20-45) linking it to the transmembrane segment. The ball domain is made up of a flexible N-terminus anchored at a well ordered loop-helix motif. The chain domain consists of a 4-turn helix with an unfolded linker at its C- terminus. {ECO 0000269|PubMed 10097176, ECO 0000269|PubMed 10377337}. # DrugBank DB00721 Procaine # DrugBank DB01110 Miconazole # Ensembl ENST00000358316 ENSP00000351068; ENSG00000197584 # Ensembl ENST00000420517 ENSP00000408252; ENSG00000197584 # Ensembl ENST00000432997 ENSP00000407592; ENSG00000197584 # Ensembl ENST00000452583 ENSP00000397483; ENSG00000197584 # ExpressionAtlas Q9Y691 baseline and differential # FUNCTION KCMB2_HUMAN Regulatory subunit of the calcium activated potassium KCNMA1 (maxiK) channel. Modulates the calcium sensitivity and gating kinetics of KCNMA1, thereby contributing to KCNMA1 channel diversity. Acts as a negative regulator that confers rapid and complete inactivation of KCNMA1 channel complex. May participate in KCNMA1 inactivation in chromaffin cells of the adrenal gland or in hippocampal CA1 neurons. {ECO 0000269|PubMed 10097176, ECO 0000269|PubMed 10377337}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IDA:UniProtKB. # GO_component GO:0008076 voltage-gated potassium channel complex; IDA:UniProtKB. # GO_function GO:0008200 ion channel inhibitor activity; TAS:ProtInc. # GO_function GO:0015269 calcium-activated potassium channel activity; IDA:UniProtKB. # GO_function GO:0015459 potassium channel regulator activity; TAS:ProtInc. # GO_process GO:0001508 action potential; IDA:UniProtKB. # GO_process GO:0005513 detection of calcium ion; IDA:UniProtKB. # GO_process GO:0006813 potassium ion transport; IDA:UniProtKB. # GO_process GO:0007268 chemical synaptic transmission; IBA:GO_Central. # GO_process GO:0019228 neuronal action potential; IDA:UniProtKB. # GO_process GO:0019229 regulation of vasoconstriction; TAS:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0003013 circulatory system process # GOslim_process GO:0006810 transport # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # Gene3D 4.10.81.20 -; 1. # Genevisible Q9Y691 HS # HGNC HGNC:6286 KCNMB2 # InterPro IPR003930 K_chnl_Ca-activ_BK_bsu # InterPro IPR015382 KCNMB2_ball_chain_dom # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04270 Vascular smooth muscle contraction # MIM 605214 gene # Organism KCMB2_HUMAN Homo sapiens (Human) # PANTHER PTHR10258 PTHR10258 # PDB 1JO6 NMR; -; A=1-45 # PRINTS PR01450 BKCHANNELB # PTM KCMB2_HUMAN N-glycosylated. {ECO 0000269|PubMed 10792058}. # Pfam PF03185 CaKB # Pfam PF09303 KcnmB2_inactiv # Proteomes UP000005640 Chromosome 3 # Reactome R-HSA-1296052 Ca2+ activated K+ channels # Reactome R-HSA-418457 cGMP effects # RecName KCMB2_HUMAN Calcium-activated potassium channel subunit beta-2 # RefSeq NP_001265840 NM_001278911.1 # RefSeq NP_005823 NM_005832.4 # RefSeq NP_852006 NM_181361.2 # RefSeq XP_011510627 XM_011512325.2 # SIMILARITY Belongs to the KCNMB (TC 8.A.14.1) family. KCNMB2 subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION KCMB2_HUMAN Membrane; Multi-pass membrane protein. # SUBUNIT Interacts with KCNMA1 tetramer. There are probably 4 molecules of KCMNB2 per KCNMA1 tetramer. {ECO:0000269|PubMed 10097176}. # TCDB 8.A.14.1 the ca(2+)-activated k(+) channel auxiliary subunit slowpoke-Beta (sloBeta) family # TISSUE SPECIFICITY KCMB2_HUMAN Expressed in kidney, heart and brain. Highly expressed in ovary. Expressed at low level in other tissues. {ECO 0000269|PubMed 10097176, ECO 0000269|PubMed 10377337, ECO 0000269|PubMed 10692449}. # UCSC uc003fjd human # eggNOG ENOG410IEU4 Eukaryota # eggNOG ENOG4111FIG LUCA BLAST swissprot:KCMB2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCMB2_HUMAN COXPRESdb 10242 http://coxpresdb.jp/data/gene/10242.shtml CleanEx HS_KCNMB2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNMB2 DOI 10.1073/pnas.100118597 http://dx.doi.org/10.1073/pnas.100118597 DOI 10.1073/pnas.96.7.4137 http://dx.doi.org/10.1073/pnas.96.7.4137 DOI 10.1074/jbc.275.9.6453 http://dx.doi.org/10.1074/jbc.275.9.6453 DOI 10.1074/jbc.M107118200 http://dx.doi.org/10.1074/jbc.M107118200 DOI 10.1085/jgp.20028667 http://dx.doi.org/10.1085/jgp.20028667 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1152/nips.01387.2002 http://dx.doi.org/10.1152/nips.01387.2002 DrugBank DB00721 http://www.drugbank.ca/drugs/DB00721 DrugBank DB01110 http://www.drugbank.ca/drugs/DB01110 EMBL AF099137 http://www.ebi.ac.uk/ena/data/view/AF099137 EMBL AF209747 http://www.ebi.ac.uk/ena/data/view/AF209747 EMBL BC017825 http://www.ebi.ac.uk/ena/data/view/BC017825 Ensembl ENST00000358316 http://www.ensembl.org/id/ENST00000358316 Ensembl ENST00000420517 http://www.ensembl.org/id/ENST00000420517 Ensembl ENST00000432997 http://www.ensembl.org/id/ENST00000432997 Ensembl ENST00000452583 http://www.ensembl.org/id/ENST00000452583 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0008076 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008076 GO_function GO:0008200 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008200 GO_function GO:0015269 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015269 GO_function GO:0015459 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015459 GO_process GO:0001508 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001508 GO_process GO:0005513 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005513 GO_process GO:0006813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006813 GO_process GO:0007268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007268 GO_process GO:0019228 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019228 GO_process GO:0019229 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019229 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0003013 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003013 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 Gene3D 4.10.81.20 http://www.cathdb.info/version/latest/superfamily/4.10.81.20 GeneCards KCNMB2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNMB2 GeneID 10242 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=10242 GeneTree ENSGT00390000015997 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000015997 HGNC HGNC:6286 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6286 HOVERGEN HBG052223 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052223&db=HOVERGEN HPA CAB022649 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB022649 InParanoid Q9Y691 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9Y691 IntAct Q9Y691 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9Y691* InterPro IPR003930 http://www.ebi.ac.uk/interpro/entry/IPR003930 InterPro IPR015382 http://www.ebi.ac.uk/interpro/entry/IPR015382 Jabion 10242 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=10242 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:10242 http://www.genome.jp/dbget-bin/www_bget?hsa:10242 KEGG_Orthology KO:K04938 http://www.genome.jp/dbget-bin/www_bget?KO:K04938 KEGG_Pathway ko04270 http://www.genome.jp/kegg-bin/show_pathway?ko04270 MIM 605214 http://www.ncbi.nlm.nih.gov/omim/605214 MINT MINT-8381989 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-8381989 OMA KMFIWTS http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=KMFIWTS OrthoDB EOG091G0MVO http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0MVO PANTHER PTHR10258 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10258 PDB 1JO6 http://www.ebi.ac.uk/pdbe-srv/view/entry/1JO6 PDBsum 1JO6 http://www.ebi.ac.uk/pdbsum/1JO6 PRINTS PR01450 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01450 PSORT swissprot:KCMB2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCMB2_HUMAN PSORT-B swissprot:KCMB2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCMB2_HUMAN PSORT2 swissprot:KCMB2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCMB2_HUMAN Pfam PF03185 http://pfam.xfam.org/family/PF03185 Pfam PF09303 http://pfam.xfam.org/family/PF09303 PharmGKB PA30066 http://www.pharmgkb.org/do/serve?objId=PA30066&objCls=Gene Phobius swissprot:KCMB2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCMB2_HUMAN PhylomeDB Q9Y691 http://phylomedb.org/?seqid=Q9Y691 ProteinModelPortal Q9Y691 http://www.proteinmodelportal.org/query/uniprot/Q9Y691 PubMed 10097176 http://www.ncbi.nlm.nih.gov/pubmed/10097176 PubMed 10377337 http://www.ncbi.nlm.nih.gov/pubmed/10377337 PubMed 10692449 http://www.ncbi.nlm.nih.gov/pubmed/10692449 PubMed 10792058 http://www.ncbi.nlm.nih.gov/pubmed/10792058 PubMed 11517232 http://www.ncbi.nlm.nih.gov/pubmed/11517232 PubMed 12136044 http://www.ncbi.nlm.nih.gov/pubmed/12136044 PubMed 12566540 http://www.ncbi.nlm.nih.gov/pubmed/12566540 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 Reactome R-HSA-1296052 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1296052 Reactome R-HSA-418457 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-418457 RefSeq NP_001265840 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001265840 RefSeq NP_005823 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_005823 RefSeq NP_852006 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_852006 RefSeq XP_011510627 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011510627 SMR Q9Y691 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9Y691 STRING 9606.ENSP00000351068 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000351068&targetmode=cogs TCDB 8.A.14.1 http://www.tcdb.org/search/result.php?tc=8.A.14.1 UCSC uc003fjd http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003fjd&org=rat UniGene Hs.478368 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.478368 UniProtKB KCMB2_HUMAN http://www.uniprot.org/uniprot/KCMB2_HUMAN UniProtKB-AC Q9Y691 http://www.uniprot.org/uniprot/Q9Y691 charge swissprot:KCMB2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCMB2_HUMAN eggNOG ENOG410IEU4 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IEU4 eggNOG ENOG4111FIG http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111FIG epestfind swissprot:KCMB2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCMB2_HUMAN garnier swissprot:KCMB2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCMB2_HUMAN helixturnhelix swissprot:KCMB2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCMB2_HUMAN hmoment swissprot:KCMB2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCMB2_HUMAN iep swissprot:KCMB2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCMB2_HUMAN inforesidue swissprot:KCMB2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCMB2_HUMAN neXtProt NX_Q9Y691 http://www.nextprot.org/db/entry/NX_Q9Y691 octanol swissprot:KCMB2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCMB2_HUMAN pepcoil swissprot:KCMB2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCMB2_HUMAN pepdigest swissprot:KCMB2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCMB2_HUMAN pepinfo swissprot:KCMB2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCMB2_HUMAN pepnet swissprot:KCMB2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCMB2_HUMAN pepstats swissprot:KCMB2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCMB2_HUMAN pepwheel swissprot:KCMB2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCMB2_HUMAN pepwindow swissprot:KCMB2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCMB2_HUMAN sigcleave swissprot:KCMB2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCMB2_HUMAN ## Database ID URL or Descriptions # BioGrid 116636 7 # CDD cd06174 MFS # ChiTaRS SV2C human # Ensembl ENST00000502798 ENSP00000423541; ENSG00000122012 # ExpressionAtlas Q496J9 baseline and differential # FUNCTION SV2C_HUMAN Plays a role in the control of regulated secretion in neural and endocrine cells, enhancing selectively low-frequency neurotransmission. Positively regulates vesicle fusion by maintaining the readily releasable pool of secretory vesicles (By similarity). {ECO 0000250}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0008021 synaptic vesicle; TAS:ParkinsonsUK-UCL. # GO_component GO:0016021 integral component of membrane; IBA:GO_Central. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0030672 synaptic vesicle membrane; IBA:GO_Central. # GO_component GO:0043005 neuron projection; IBA:GO_Central. # GO_function GO:0022857 transmembrane transporter activity; IEA:InterPro. # GO_process GO:0001504 neurotransmitter uptake; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0031410 cytoplasmic vesicle # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # Genevisible Q496J9 HS # HGNC HGNC:30670 SV2C # InterPro IPR001646 5peptide_repeat # InterPro IPR005828 MFS_sugar_transport-like # InterPro IPR005829 Sugar_transporter_CS # InterPro IPR011701 MFS # InterPro IPR020846 MFS_dom # InterPro IPR022308 SV2 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02000 Transporters # KEGG_Pathway ko04512 ECM-receptor interaction # MIM 610291 gene # Organism SV2C_HUMAN Homo sapiens (Human) # PDB 4JRA X-ray; 2.30 A; C/D=456-574 # PDB 5JLV X-ray; 2.00 A; C/D=473-567 # PROSITE PS50850 MFS # PTM SV2C_HUMAN N-glycosylated. {ECO 0000250}. # Pfam PF00083 Sugar_tr # Pfam PF07690 MFS_1 # Pfam PF13599 Pentapeptide_4 # Proteomes UP000005640 Chromosome 5 # Reactome R-HSA-5250955 Toxicity of botulinum toxin type D (BoNT/D) # Reactome R-HSA-5250968 Toxicity of botulinum toxin type A (BoNT/A) # Reactome R-HSA-5250981 Toxicity of botulinum toxin type F (BoNT/F) # RecName SV2C_HUMAN Synaptic vesicle glycoprotein 2C # RefSeq NP_055794 NM_014979.3 # RefSeq XP_011541583 XM_011543281.2 # RefSeq XP_011541584 XM_011543282.2 # SIMILARITY Belongs to the major facilitator superfamily. {ECO 0000305}. # SUBCELLULAR LOCATION SV2C_HUMAN Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. Note=Enriched in small synaptic vesicles and adrenal microsomes, not present in chromaffin granules. Associated with both insulin granules and synaptic-like microvesicles in insulin-secreting cells of the pancreas (By similarity). {ECO 0000250}. # SUBUNIT Interacts with SYT1 in a calcium-dependent manner. {ECO 0000250}. # SUPFAM SSF103473 SSF103473; 3 # TIGRFAMs TIGR01299 synapt_SV2 # UCSC uc003kei human # eggNOG ENOG410YQME LUCA # eggNOG KOG0255 Eukaryota BLAST swissprot:SV2C_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SV2C_HUMAN COXPRESdb 22987 http://coxpresdb.jp/data/gene/22987.shtml CleanEx HS_SV2C http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SV2C DIP DIP-60687N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-60687N DOI 10.1093/dnares/6.3.197 http://dx.doi.org/10.1093/dnares/6.3.197 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AB028977 http://www.ebi.ac.uk/ena/data/view/AB028977 EMBL BC100824 http://www.ebi.ac.uk/ena/data/view/BC100824 EMBL BC100825 http://www.ebi.ac.uk/ena/data/view/BC100825 EMBL BC100826 http://www.ebi.ac.uk/ena/data/view/BC100826 EMBL BC100827 http://www.ebi.ac.uk/ena/data/view/BC100827 Ensembl ENST00000502798 http://www.ensembl.org/id/ENST00000502798 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0008021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008021 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0030672 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030672 GO_component GO:0043005 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043005 GO_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GO_process GO:0001504 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001504 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0031410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GeneCards SV2C http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SV2C GeneID 22987 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=22987 GeneTree ENSGT00550000074384 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074384 HGNC HGNC:30670 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:30670 HOGENOM HOG000065727 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000065727&db=HOGENOM6 HOVERGEN HBG053967 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG053967&db=HOVERGEN HPA HPA040722 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA040722 HPA HPA040770 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA040770 InParanoid Q496J9 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q496J9 InterPro IPR001646 http://www.ebi.ac.uk/interpro/entry/IPR001646 InterPro IPR005828 http://www.ebi.ac.uk/interpro/entry/IPR005828 InterPro IPR005829 http://www.ebi.ac.uk/interpro/entry/IPR005829 InterPro IPR011701 http://www.ebi.ac.uk/interpro/entry/IPR011701 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 InterPro IPR022308 http://www.ebi.ac.uk/interpro/entry/IPR022308 Jabion 22987 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=22987 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Gene hsa:22987 http://www.genome.jp/dbget-bin/www_bget?hsa:22987 KEGG_Orthology KO:K06258 http://www.genome.jp/dbget-bin/www_bget?KO:K06258 KEGG_Pathway ko04512 http://www.genome.jp/kegg-bin/show_pathway?ko04512 MIM 610291 http://www.ncbi.nlm.nih.gov/omim/610291 OMA DFEPYKF http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=DFEPYKF OrthoDB EOG091G02NC http://cegg.unige.ch/orthodb/results?searchtext=EOG091G02NC PDB 4JRA http://www.ebi.ac.uk/pdbe-srv/view/entry/4JRA PDB 5JLV http://www.ebi.ac.uk/pdbe-srv/view/entry/5JLV PDBsum 4JRA http://www.ebi.ac.uk/pdbsum/4JRA PDBsum 5JLV http://www.ebi.ac.uk/pdbsum/5JLV PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PSORT swissprot:SV2C_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SV2C_HUMAN PSORT-B swissprot:SV2C_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SV2C_HUMAN PSORT2 swissprot:SV2C_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SV2C_HUMAN Pfam PF00083 http://pfam.xfam.org/family/PF00083 Pfam PF07690 http://pfam.xfam.org/family/PF07690 Pfam PF13599 http://pfam.xfam.org/family/PF13599 PharmGKB PA25005 http://www.pharmgkb.org/do/serve?objId=PA25005&objCls=Gene Phobius swissprot:SV2C_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SV2C_HUMAN PhylomeDB Q496J9 http://phylomedb.org/?seqid=Q496J9 ProteinModelPortal Q496J9 http://www.proteinmodelportal.org/query/uniprot/Q496J9 PubMed 10470851 http://www.ncbi.nlm.nih.gov/pubmed/10470851 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 Reactome R-HSA-5250955 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5250955 Reactome R-HSA-5250968 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5250968 Reactome R-HSA-5250981 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5250981 RefSeq NP_055794 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_055794 RefSeq XP_011541583 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011541583 RefSeq XP_011541584 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011541584 SMR Q496J9 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q496J9 STRING 9606.ENSP00000423541 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000423541&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TIGRFAMs TIGR01299 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01299 UCSC uc003kei http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003kei&org=rat UniGene Hs.646953 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.646953 UniGene Hs.663229 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.663229 UniProtKB SV2C_HUMAN http://www.uniprot.org/uniprot/SV2C_HUMAN UniProtKB-AC Q496J9 http://www.uniprot.org/uniprot/Q496J9 charge swissprot:SV2C_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SV2C_HUMAN eggNOG ENOG410YQME http://eggnogapi.embl.de/nog_data/html/tree/ENOG410YQME eggNOG KOG0255 http://eggnogapi.embl.de/nog_data/html/tree/KOG0255 epestfind swissprot:SV2C_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SV2C_HUMAN garnier swissprot:SV2C_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SV2C_HUMAN helixturnhelix swissprot:SV2C_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SV2C_HUMAN hmoment swissprot:SV2C_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SV2C_HUMAN iep swissprot:SV2C_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SV2C_HUMAN inforesidue swissprot:SV2C_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SV2C_HUMAN neXtProt NX_Q496J9 http://www.nextprot.org/db/entry/NX_Q496J9 octanol swissprot:SV2C_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SV2C_HUMAN pepcoil swissprot:SV2C_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SV2C_HUMAN pepdigest swissprot:SV2C_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SV2C_HUMAN pepinfo swissprot:SV2C_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SV2C_HUMAN pepnet swissprot:SV2C_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SV2C_HUMAN pepstats swissprot:SV2C_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SV2C_HUMAN pepwheel swissprot:SV2C_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SV2C_HUMAN pepwindow swissprot:SV2C_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SV2C_HUMAN sigcleave swissprot:SV2C_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SV2C_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S12A2_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P55011-1; Sequence=Displayed; Name=2; IsoId=P55011-3; Sequence=VSP_006105; # AltName S12A2_HUMAN Basolateral Na-K-Cl symporter # AltName S12A2_HUMAN Bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1 # BioGrid 112447 31 # CCDS CCDS4144 -. [P55011-1] # CCDS CCDS58965 -. [P55011-3] # ChiTaRS SLC12A2 human # DrugBank DB00761 Potassium Chloride # DrugBank DB00887 Bumetanide # DrugBank DB01325 Quinethazone # ENZYME REGULATION Activated by WNK3. {ECO:0000269|PubMed 21613606}. # Ensembl ENST00000262461 ENSP00000262461; ENSG00000064651. [P55011-1] # Ensembl ENST00000343225 ENSP00000340878; ENSG00000064651. [P55011-3] # ExpressionAtlas P55011 baseline and differential # FUNCTION S12A2_HUMAN Electrically silent transporter system. Mediates sodium and chloride reabsorption. Plays a vital role in the regulation of ionic balance and cell volume. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0016020 membrane; TAS:ProtInc. # GO_component GO:0016324 apical plasma membrane; IBA:GO_Central. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_component GO:1903561 extracellular vesicle; IDA:UniProtKB. # GO_function GO:0008519 ammonium transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0019901 protein kinase binding; IPI:ParkinsonsUK-UCL. # GO_function S12A2_HUMAN GO 0008511 sodium potassium chloride symporter activity; TAS Reactome. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0006811 ion transport; TAS:Reactome. # GO_process GO:0006813 potassium ion transport; IEA:UniProtKB-KW. # GO_process GO:0006814 sodium ion transport; IEA:UniProtKB-KW. # GO_process GO:0006972 hyperosmotic response; IEA:Ensembl. # GO_process GO:0007214 gamma-aminobutyric acid signaling pathway; IEA:Ensembl. # GO_process GO:0007568 aging; IEA:Ensembl. # GO_process GO:0015696 ammonium transport; IDA:UniProtKB. # GO_process GO:0030321 transepithelial chloride transport; IDA:UniProtKB. # GO_process GO:0045795 positive regulation of cell volume; IEA:Ensembl. # GO_process GO:0070634 transepithelial ammonium transport; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0019899 enzyme binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0007568 aging # GOslim_process GO:0042592 homeostatic process # Genevisible P55011 HS # HGNC HGNC:10911 SLC12A2 # INTERACTION S12A2_HUMAN O95747 OXSR1; NbExp=2; IntAct=EBI-2801449, EBI-620853; # IntAct P55011 14 # InterPro IPR002443 Na/K/Cl_cotranspt # InterPro IPR002444 NKCC1 # InterPro IPR004841 AA-permease/SLC12A_dom # InterPro IPR004842 SLC12A_fam # InterPro IPR013612 AA_permease_N # InterPro IPR018491 SLC12_C # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02001 Solute carrier family # KEGG_Pathway ko04970 Salivary secretion # KEGG_Pathway ko04972 Pancreatic secretion # KEGG_Pathway ko05110 Vibrio cholerae infection # MIM 600840 gene # Organism S12A2_HUMAN Homo sapiens (Human) # PANTHER PTHR11827:SF58 PTHR11827:SF58; 3 # PIR A57187 A57187 # PRINTS PR01207 NAKCLTRNSPRT # PRINTS PR01208 NAKCLTRSPRT1 # Pfam PF00324 AA_permease # Pfam PF03522 SLC12 # Pfam PF08403 AA_permease_N # Proteomes UP000005640 Chromosome 5 # Reactome R-HSA-426117 Cation-coupled Chloride cotransporters # RecName S12A2_HUMAN Solute carrier family 12 member 2 # RefSeq NP_001037 NM_001046.2. [P55011-1] # SIMILARITY Belongs to the SLC12A transporter family. {ECO 0000305}. # SUBCELLULAR LOCATION S12A2_HUMAN Membrane; Multi-pass membrane protein. # TCDB 2.A.30.3 the cation-chloride cotransporter (ccc) family # TIGRFAMs TIGR00930 2a30 # TISSUE SPECIFICITY S12A2_HUMAN Expressed in many tissues. # UCSC uc010jdg human. [P55011-1] # eggNOG COG0531 LUCA # eggNOG KOG2083 Eukaryota BLAST swissprot:S12A2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S12A2_HUMAN BioCyc ZFISH:ENSG00000064651-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000064651-MONOMER COXPRESdb 6558 http://coxpresdb.jp/data/gene/6558.shtml CleanEx HS_SLC12A2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC12A2 DIP DIP-43979N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-43979N DOI 10.1006/abio.2001.5398 http://dx.doi.org/10.1006/abio.2001.5398 DOI 10.1021/pr0705441 http://dx.doi.org/10.1021/pr0705441 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1074/jbc.270.30.17977 http://dx.doi.org/10.1074/jbc.270.30.17977 DOI 10.1074/mcp.M111.015131 http://dx.doi.org/10.1074/mcp.M111.015131 DOI 10.1152/ajpcell.00070.2011 http://dx.doi.org/10.1152/ajpcell.00070.2011 DrugBank DB00761 http://www.drugbank.ca/drugs/DB00761 DrugBank DB00887 http://www.drugbank.ca/drugs/DB00887 DrugBank DB01325 http://www.drugbank.ca/drugs/DB01325 EMBL AF439152 http://www.ebi.ac.uk/ena/data/view/AF439152 EMBL U30246 http://www.ebi.ac.uk/ena/data/view/U30246 Ensembl ENST00000262461 http://www.ensembl.org/id/ENST00000262461 Ensembl ENST00000343225 http://www.ensembl.org/id/ENST00000343225 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_component GO:1903561 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903561 GO_function GO:0008511 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008511 GO_function GO:0008519 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008519 GO_function GO:0019901 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019901 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0006811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006811 GO_process GO:0006813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006813 GO_process GO:0006814 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006814 GO_process GO:0006972 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006972 GO_process GO:0007214 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007214 GO_process GO:0007568 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007568 GO_process GO:0015696 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015696 GO_process GO:0030321 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030321 GO_process GO:0045795 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045795 GO_process GO:0070634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070634 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0007568 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007568 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GeneCards SLC12A2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC12A2 GeneID 6558 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6558 GeneTree ENSGT00760000119053 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119053 HGNC HGNC:10911 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10911 HOGENOM HOG000062855 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000062855&db=HOGENOM6 HOVERGEN HBG052851 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052851&db=HOVERGEN HPA HPA020130 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA020130 HPA HPA063697 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA063697 InParanoid P55011 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P55011 IntAct P55011 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P55011* InterPro IPR002443 http://www.ebi.ac.uk/interpro/entry/IPR002443 InterPro IPR002444 http://www.ebi.ac.uk/interpro/entry/IPR002444 InterPro IPR004841 http://www.ebi.ac.uk/interpro/entry/IPR004841 InterPro IPR004842 http://www.ebi.ac.uk/interpro/entry/IPR004842 InterPro IPR013612 http://www.ebi.ac.uk/interpro/entry/IPR013612 InterPro IPR018491 http://www.ebi.ac.uk/interpro/entry/IPR018491 Jabion 6558 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6558 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:6558 http://www.genome.jp/dbget-bin/www_bget?hsa:6558 KEGG_Orthology KO:K10951 http://www.genome.jp/dbget-bin/www_bget?KO:K10951 KEGG_Pathway ko04970 http://www.genome.jp/kegg-bin/show_pathway?ko04970 KEGG_Pathway ko04972 http://www.genome.jp/kegg-bin/show_pathway?ko04972 KEGG_Pathway ko05110 http://www.genome.jp/kegg-bin/show_pathway?ko05110 MIM 600840 http://www.ncbi.nlm.nih.gov/omim/600840 MINT MINT-5004359 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-5004359 OMA LSMEYSK http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=LSMEYSK OrthoDB EOG091G04G2 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G04G2 PANTHER PTHR11827:SF58 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11827:SF58 PRINTS PR01207 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01207 PRINTS PR01208 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01208 PSORT swissprot:S12A2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S12A2_HUMAN PSORT-B swissprot:S12A2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S12A2_HUMAN PSORT2 swissprot:S12A2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S12A2_HUMAN Pfam PF00324 http://pfam.xfam.org/family/PF00324 Pfam PF03522 http://pfam.xfam.org/family/PF03522 Pfam PF08403 http://pfam.xfam.org/family/PF08403 PharmGKB PA35806 http://www.pharmgkb.org/do/serve?objId=PA35806&objCls=Gene Phobius swissprot:S12A2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S12A2_HUMAN PhylomeDB P55011 http://phylomedb.org/?seqid=P55011 ProteinModelPortal P55011 http://www.proteinmodelportal.org/query/uniprot/P55011 PubMed 11700976 http://www.ncbi.nlm.nih.gov/pubmed/11700976 PubMed 18220336 http://www.ncbi.nlm.nih.gov/pubmed/18220336 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 21613606 http://www.ncbi.nlm.nih.gov/pubmed/21613606 PubMed 22223895 http://www.ncbi.nlm.nih.gov/pubmed/22223895 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 7629105 http://www.ncbi.nlm.nih.gov/pubmed/7629105 Reactome R-HSA-426117 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-426117 RefSeq NP_001037 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001037 STRING 9606.ENSP00000262461 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000262461&targetmode=cogs TCDB 2.A.30.3 http://www.tcdb.org/search/result.php?tc=2.A.30.3 TIGRFAMs TIGR00930 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00930 UCSC uc010jdg http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc010jdg&org=rat UniGene Hs.162585 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.162585 UniGene Hs.712970 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.712970 UniProtKB S12A2_HUMAN http://www.uniprot.org/uniprot/S12A2_HUMAN UniProtKB-AC P55011 http://www.uniprot.org/uniprot/P55011 charge swissprot:S12A2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S12A2_HUMAN eggNOG COG0531 http://eggnogapi.embl.de/nog_data/html/tree/COG0531 eggNOG KOG2083 http://eggnogapi.embl.de/nog_data/html/tree/KOG2083 epestfind swissprot:S12A2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S12A2_HUMAN garnier swissprot:S12A2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S12A2_HUMAN helixturnhelix swissprot:S12A2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S12A2_HUMAN hmoment swissprot:S12A2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S12A2_HUMAN iep swissprot:S12A2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S12A2_HUMAN inforesidue swissprot:S12A2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S12A2_HUMAN neXtProt NX_P55011 http://www.nextprot.org/db/entry/NX_P55011 octanol swissprot:S12A2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S12A2_HUMAN pepcoil swissprot:S12A2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S12A2_HUMAN pepdigest swissprot:S12A2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S12A2_HUMAN pepinfo swissprot:S12A2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S12A2_HUMAN pepnet swissprot:S12A2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S12A2_HUMAN pepstats swissprot:S12A2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S12A2_HUMAN pepwheel swissprot:S12A2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S12A2_HUMAN pepwindow swissprot:S12A2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S12A2_HUMAN sigcleave swissprot:S12A2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S12A2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S35D2_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q76EJ3-1; Sequence=Displayed; Name=2; IsoId=Q76EJ3-2; Sequence=VSP_030006; Note=No experimental confirmation available.; # AltName S35D2_HUMAN Homolog of Fringe connection protein 1 # AltName S35D2_HUMAN SQV7-like protein # AltName S35D2_HUMAN Solute carrier family 35 member D2 # AltName S35D2_HUMAN UDP-galactose transporter-related protein 8 # BIOPHYSICOCHEMICAL PROPERTIES S35D2_HUMAN Kinetic parameters KM=8 uM for UDP-N-acetylglucosamine {ECO 0000269|PubMed 15082721}; KM=2.1 uM for UDP-glucose {ECO 0000269|PubMed 15082721}; KM=0.14 uM for GDP-mannose {ECO 0000269|PubMed 15082721}; # CCDS CCDS6717 -. [Q76EJ3-1] # CCDS CCDS69625 -. [Q76EJ3-2] # ChiTaRS SLC35D2 human # Ensembl ENST00000253270 ENSP00000253270; ENSG00000130958. [Q76EJ3-1] # Ensembl ENST00000375259 ENSP00000364408; ENSG00000130958. [Q76EJ3-2] # ExpressionAtlas Q76EJ3 baseline and differential # FUNCTION S35D2_HUMAN Antiporter transporting nucleotide sugars such as UDP-N- acetylglucosamine (UDP-GlcNAc), UDP-glucose (UDP-Glc) and GDP- mannose (GDP-Man) pooled in the cytosol into the lumen of the Golgi in exchange for the corresponding nucleosides monophosphates (UMP for UDP-sugars and GMP for GDP-sugars). May take part in heparan sulfate synthesis by supplying UDP-Glc-NAc, the donor substrate, and thus be involved in growth factor signaling. {ECO 0000269|PubMed 15082721, ECO 0000269|PubMed 15607426}. # GO_component GO:0000139 Golgi membrane; TAS:Reactome. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0005338 nucleotide-sugar transmembrane transporter activity; NAS:UniProtKB. # GO_function GO:0015165 pyrimidine nucleotide-sugar transmembrane transporter activity; IBA:GO_Central. # GO_process GO:0006024 glycosaminoglycan biosynthetic process; TAS:Reactome. # GO_process GO:0008643 carbohydrate transport; IEA:UniProtKB-KW. # GO_process GO:0018146 keratan sulfate biosynthetic process; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006790 sulfur compound metabolic process # GOslim_process GO:0006810 transport # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0044281 small molecule metabolic process # Genevisible Q76EJ3 HS # HGNC HGNC:20799 SLC35D2 # InterPro IPR004853 Sugar_P_trans_dom # KEGG_Brite ko02001 Solute carrier family # MIM 609182 gene # Organism S35D2_HUMAN Homo sapiens (Human) # Pfam PF03151 TPT # Proteomes UP000005640 Chromosome 9 # Reactome R-HSA-2022854 Keratan sulfate biosynthesis # Reactome R-HSA-2022928 HS-GAG biosynthesis # Reactome R-HSA-727802 Transport of nucleotide sugars # RecName S35D2_HUMAN UDP-N-acetylglucosamine/UDP-glucose/GDP-mannose transporter # RefSeq NP_001273919 NM_001286990.1. [Q76EJ3-2] # RefSeq NP_008932 NM_007001.2. [Q76EJ3-1] # SIMILARITY Belongs to the TPT transporter family. SLC35D subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION S35D2_HUMAN Golgi apparatus membrane {ECO 0000269|PubMed 15082721, ECO 0000269|PubMed 15607426}; Multi- pass membrane protein {ECO 0000269|PubMed 15082721, ECO 0000269|PubMed 15607426}. # TCDB 2.A.7.15 the drug/metabolite transporter (dmt) superfamily # TISSUE SPECIFICITY Highly expressed in heart, kidney, small intestine, placenta, lung and peripheral blood leukocyte. Weakly expressed in skeletal muscle and spleen. Not expressed in brain, colon and thymus. {ECO:0000269|PubMed 15607426}. # UCSC uc004awc human. [Q76EJ3-1] # eggNOG COG5070 LUCA # eggNOG KOG1444 Eukaryota BLAST swissprot:S35D2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S35D2_HUMAN COXPRESdb 11046 http://coxpresdb.jp/data/gene/11046.shtml CleanEx HS_SLC35D2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC35D2 DOI 10.1016/j.ygeno.2004.09.010 http://dx.doi.org/10.1016/j.ygeno.2004.09.010 DOI 10.1038/nature02465 http://dx.doi.org/10.1038/nature02465 DOI 10.1073/pnas.1210303109 http://dx.doi.org/10.1073/pnas.1210303109 DOI 10.1073/pnas.96.3.974 http://dx.doi.org/10.1073/pnas.96.3.974 DOI 10.1074/jbc.M311353200 http://dx.doi.org/10.1074/jbc.M311353200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AB106537 http://www.ebi.ac.uk/ena/data/view/AB106537 EMBL AB122077 http://www.ebi.ac.uk/ena/data/view/AB122077 EMBL AJ005866 http://www.ebi.ac.uk/ena/data/view/AJ005866 EMBL AL160269 http://www.ebi.ac.uk/ena/data/view/AL160269 EMBL BC009413 http://www.ebi.ac.uk/ena/data/view/BC009413 EMBL BC100278 http://www.ebi.ac.uk/ena/data/view/BC100278 EMBL BC113579 http://www.ebi.ac.uk/ena/data/view/BC113579 EMBL CH471174 http://www.ebi.ac.uk/ena/data/view/CH471174 Ensembl ENST00000253270 http://www.ensembl.org/id/ENST00000253270 Ensembl ENST00000375259 http://www.ensembl.org/id/ENST00000375259 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000139 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005338 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005338 GO_function GO:0015165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015165 GO_process GO:0006024 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006024 GO_process GO:0008643 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008643 GO_process GO:0018146 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0018146 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006790 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006790 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GeneCards SLC35D2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC35D2 GeneID 11046 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=11046 GeneTree ENSGT00390000014204 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000014204 HGNC HGNC:20799 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:20799 HOGENOM HOG000038339 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000038339&db=HOGENOM6 HOVERGEN HBG054071 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG054071&db=HOVERGEN HPA HPA064047 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA064047 InParanoid Q76EJ3 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q76EJ3 InterPro IPR004853 http://www.ebi.ac.uk/interpro/entry/IPR004853 Jabion 11046 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=11046 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:11046 http://www.genome.jp/dbget-bin/www_bget?hsa:11046 KEGG_Orthology KO:K15281 http://www.genome.jp/dbget-bin/www_bget?KO:K15281 MIM 609182 http://www.ncbi.nlm.nih.gov/omim/609182 OMA TYGFPSP http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=TYGFPSP OrthoDB EOG091G0KCU http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0KCU PSORT swissprot:S35D2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S35D2_HUMAN PSORT-B swissprot:S35D2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S35D2_HUMAN PSORT2 swissprot:S35D2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S35D2_HUMAN Pfam PF03151 http://pfam.xfam.org/family/PF03151 PharmGKB PA134909604 http://www.pharmgkb.org/do/serve?objId=PA134909604&objCls=Gene Phobius swissprot:S35D2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S35D2_HUMAN PhylomeDB Q76EJ3 http://phylomedb.org/?seqid=Q76EJ3 ProteinModelPortal Q76EJ3 http://www.proteinmodelportal.org/query/uniprot/Q76EJ3 PubMed 15082721 http://www.ncbi.nlm.nih.gov/pubmed/15082721 PubMed 15164053 http://www.ncbi.nlm.nih.gov/pubmed/15164053 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15607426 http://www.ncbi.nlm.nih.gov/pubmed/15607426 PubMed 22814378 http://www.ncbi.nlm.nih.gov/pubmed/22814378 PubMed 9927678 http://www.ncbi.nlm.nih.gov/pubmed/9927678 Reactome R-HSA-2022854 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2022854 Reactome R-HSA-2022928 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2022928 Reactome R-HSA-727802 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-727802 RefSeq NP_001273919 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001273919 RefSeq NP_008932 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_008932 STRING 9606.ENSP00000253270 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000253270&targetmode=cogs TCDB 2.A.7.15 http://www.tcdb.org/search/result.php?tc=2.A.7.15 UCSC uc004awc http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc004awc&org=rat UniGene Hs.494556 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.494556 UniGene Hs.731624 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.731624 UniProtKB S35D2_HUMAN http://www.uniprot.org/uniprot/S35D2_HUMAN UniProtKB-AC Q76EJ3 http://www.uniprot.org/uniprot/Q76EJ3 charge swissprot:S35D2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S35D2_HUMAN eggNOG COG5070 http://eggnogapi.embl.de/nog_data/html/tree/COG5070 eggNOG KOG1444 http://eggnogapi.embl.de/nog_data/html/tree/KOG1444 epestfind swissprot:S35D2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S35D2_HUMAN garnier swissprot:S35D2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S35D2_HUMAN helixturnhelix swissprot:S35D2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S35D2_HUMAN hmoment swissprot:S35D2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S35D2_HUMAN iep swissprot:S35D2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S35D2_HUMAN inforesidue swissprot:S35D2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S35D2_HUMAN neXtProt NX_Q76EJ3 http://www.nextprot.org/db/entry/NX_Q76EJ3 octanol swissprot:S35D2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S35D2_HUMAN pepcoil swissprot:S35D2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S35D2_HUMAN pepdigest swissprot:S35D2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S35D2_HUMAN pepinfo swissprot:S35D2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S35D2_HUMAN pepnet swissprot:S35D2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S35D2_HUMAN pepstats swissprot:S35D2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S35D2_HUMAN pepwheel swissprot:S35D2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S35D2_HUMAN pepwindow swissprot:S35D2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S35D2_HUMAN sigcleave swissprot:S35D2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S35D2_HUMAN ## Database ID URL or Descriptions # AltName S6A18_HUMAN Sodium- and chloride-dependent transporter XTRP2 # AltName S6A18_HUMAN Solute carrier family 6 member 18 # AltName S6A18_HUMAN System B(0) neutral amino acid transporter AT3 # DISEASE S6A18_HUMAN Note=Genetic variations in SLC6A18 might contribute to the disease phentotype in some individuals with iminoglycinuria or hyperglycinuria, that carry variants in SLC36A2, SLC6A19 or SLC6A20 (PubMed 19033659). {ECO 0000269|PubMed 19033659}. # Ensembl ENST00000324642 ENSP00000323549; ENSG00000164363 # FUNCTION S6A18_HUMAN Functions as a sodium and chloride-dependent neutral amino acid transporter. {ECO 0000250}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0031526 brush border membrane; IEA:Ensembl. # GO_function GO:0015171 amino acid transmembrane transporter activity; IBA:GO_Central. # GO_function S6A18_HUMAN GO 0005328 neurotransmitter sodium symporter activity; IEA InterPro. # GO_process GO:0006865 amino acid transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # Genevisible Q96N87 HS # HGNC HGNC:26441 SLC6A18 # InterPro IPR000175 Na/ntran_symport # InterPro IPR002438 Na/ntran_symport_orphan # KEGG_Brite ko02001 Solute carrier family # KEGG_Brite ko04040 Ion channels # MIM 610300 gene # Organism S6A18_HUMAN Homo sapiens (Human) # Orphanet 42062 Iminoglycinuria # PANTHER PTHR11616 PTHR11616; 2 # POLYMORPHISM Genetic variation in SLC6A18 is not a significant predictor for elevated systolic or diastolic blood pressure and is not associated with hypertension in the Japanese population (PubMed:16340170). {ECO 0000269|PubMed:16340170}. # PRINTS PR00176 NANEUSMPORT # PRINTS PR01206 ORPHTRNSPORT # PROSITE PS00610 NA_NEUROTRAN_SYMP_1 # PROSITE PS00754 NA_NEUROTRAN_SYMP_2 # PROSITE PS50267 NA_NEUROTRAN_SYMP_3 # Pfam PF00209 SNF # Proteomes UP000005640 Chromosome 5 # Reactome R-HSA-352230 Amino acid transport across the plasma membrane # Reactome R-HSA-442660 Na+/Cl- dependent neurotransmitter transporters # RecName S6A18_HUMAN Sodium-dependent neutral amino acid transporter B(0)AT3 # RefSeq NP_872438 NM_182632.2 # SIMILARITY Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A18 subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION S6A18_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # SUBUNIT Associates with TMEM27. TMEM27 association is required for functional expression in kidney. {ECO 0000250}. # TCDB 2.A.22.6:the neurotransmitter sodium symporter (nss) family # TISSUE SPECIFICITY Abundantly expressed in kidney, but not in intestine. {ECO:0000269|PubMed 15286787}. # UCSC uc003jby human # eggNOG COG0733 LUCA # eggNOG KOG3659 Eukaryota BLAST swissprot:S6A18_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S6A18_HUMAN BioCyc ZFISH:ENSG00000164363-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000164363-MONOMER COXPRESdb 348932 http://coxpresdb.jp/data/gene/348932.shtml CleanEx HS_SLC6A18 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC6A18 DOI 10.1038/nature02919 http://dx.doi.org/10.1038/nature02919 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1038/ng1405 http://dx.doi.org/10.1038/ng1405 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1172/JCI36625 http://dx.doi.org/10.1172/JCI36625 DOI 10.1620/tjem.208.25 http://dx.doi.org/10.1620/tjem.208.25 EMBL AC114291 http://www.ebi.ac.uk/ena/data/view/AC114291 EMBL AK055798 http://www.ebi.ac.uk/ena/data/view/AK055798 EMBL BC056757 http://www.ebi.ac.uk/ena/data/view/BC056757 Ensembl ENST00000324642 http://www.ensembl.org/id/ENST00000324642 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0031526 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031526 GO_function GO:0005328 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005328 GO_function GO:0015171 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015171 GO_process GO:0006865 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006865 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GeneCards SLC6A18 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC6A18 GeneID 348932 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=348932 GeneTree ENSGT00760000119044 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119044 H-InvDB HIX0004720 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0004720 HGNC HGNC:26441 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:26441 HOGENOM HOG000116406 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000116406&db=HOGENOM6 HOVERGEN HBG071421 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG071421&db=HOVERGEN HPA HPA011885 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA011885 InParanoid Q96N87 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q96N87 InterPro IPR000175 http://www.ebi.ac.uk/interpro/entry/IPR000175 InterPro IPR002438 http://www.ebi.ac.uk/interpro/entry/IPR002438 Jabion 348932 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=348932 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:348932 http://www.genome.jp/dbget-bin/www_bget?hsa:348932 KEGG_Orthology KO:K05048 http://www.genome.jp/dbget-bin/www_bget?KO:K05048 MIM 610300 http://www.ncbi.nlm.nih.gov/omim/610300 MINT MINT-4723009 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-4723009 OMA KLYPGWV http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=KLYPGWV Orphanet 42062 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=42062 OrthoDB EOG091G08PX http://cegg.unige.ch/orthodb/results?searchtext=EOG091G08PX PANTHER PTHR11616 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11616 PRINTS PR00176 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00176 PRINTS PR01206 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01206 PROSITE PS00610 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00610 PROSITE PS00754 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00754 PROSITE PS50267 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50267 PSORT swissprot:S6A18_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S6A18_HUMAN PSORT-B swissprot:S6A18_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S6A18_HUMAN PSORT2 swissprot:S6A18_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S6A18_HUMAN Pfam PF00209 http://pfam.xfam.org/family/PF00209 PharmGKB PA134982449 http://www.pharmgkb.org/do/serve?objId=PA134982449&objCls=Gene Phobius swissprot:S6A18_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S6A18_HUMAN PhylomeDB Q96N87 http://phylomedb.org/?seqid=Q96N87 ProteinModelPortal Q96N87 http://www.proteinmodelportal.org/query/uniprot/Q96N87 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15286787 http://www.ncbi.nlm.nih.gov/pubmed/15286787 PubMed 15372022 http://www.ncbi.nlm.nih.gov/pubmed/15372022 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16340170 http://www.ncbi.nlm.nih.gov/pubmed/16340170 PubMed 19033659 http://www.ncbi.nlm.nih.gov/pubmed/19033659 Reactome R-HSA-352230 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-352230 Reactome R-HSA-442660 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-442660 RefSeq NP_872438 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_872438 SMR Q96N87 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q96N87 STRING 9606.ENSP00000323549 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000323549&targetmode=cogs TCDB 2.A.22.6 http://www.tcdb.org/search/result.php?tc=2.A.22.6 UCSC uc003jby http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003jby&org=rat UniGene Hs.213284 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.213284 UniProtKB S6A18_HUMAN http://www.uniprot.org/uniprot/S6A18_HUMAN UniProtKB-AC Q96N87 http://www.uniprot.org/uniprot/Q96N87 charge swissprot:S6A18_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S6A18_HUMAN eggNOG COG0733 http://eggnogapi.embl.de/nog_data/html/tree/COG0733 eggNOG KOG3659 http://eggnogapi.embl.de/nog_data/html/tree/KOG3659 epestfind swissprot:S6A18_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S6A18_HUMAN garnier swissprot:S6A18_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S6A18_HUMAN helixturnhelix swissprot:S6A18_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S6A18_HUMAN hmoment swissprot:S6A18_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S6A18_HUMAN iep swissprot:S6A18_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S6A18_HUMAN inforesidue swissprot:S6A18_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S6A18_HUMAN neXtProt NX_Q96N87 http://www.nextprot.org/db/entry/NX_Q96N87 octanol swissprot:S6A18_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S6A18_HUMAN pepcoil swissprot:S6A18_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S6A18_HUMAN pepdigest swissprot:S6A18_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S6A18_HUMAN pepinfo swissprot:S6A18_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S6A18_HUMAN pepnet swissprot:S6A18_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S6A18_HUMAN pepstats swissprot:S6A18_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S6A18_HUMAN pepwheel swissprot:S6A18_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S6A18_HUMAN pepwindow swissprot:S6A18_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S6A18_HUMAN sigcleave swissprot:S6A18_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S6A18_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS GLRA3_HUMAN Event=Alternative splicing; Named isoforms=2; Name=Alpha-3L; IsoId=O75311-1; Sequence=Displayed; Name=Alpha-3K; IsoId=O75311-2; Sequence=VSP_000084; # CCDS CCDS3822 -. [O75311-1] # CCDS CCDS43283 -. [O75311-2] # DOMAIN GLRA3_HUMAN The N-terminal domain carries structural determinants essential for agonist and antagonist binding. The channel pore is formed by pentameric assembly of the second transmembrane domain from all five subunits (PubMed 26416729). The cytoplasmic loop is an important determinant of channel inactivation kinetics. {ECO 0000269|PubMed 26416729, ECO 0000305}. # DrugBank DB00145 Glycine # DrugBank DB00431 Lindane # DrugBank DB00602 Ivermectin # Ensembl ENST00000274093 ENSP00000274093; ENSG00000145451. [O75311-1] # Ensembl ENST00000340217 ENSP00000345284; ENSG00000145451. [O75311-2] # FUNCTION GLRA3_HUMAN Glycine receptors are ligand-gated chloride channels. Channel opening is triggered by extracellular glycine (PubMed 9677400, PubMed 26416729). Channel characteristics depend on the subunit composition; heteropentameric channels display faster channel closure (By similarity). Plays an important role in the down-regulation of neuronal excitability (By similarity). Contributes to the generation of inhibitory postsynaptic currents (By similarity). Contributes to increased pain perception in response to increased prostaglandin E2 levels (By similarity). Plays a role in cellular responses to ethanol (By similarity). {ECO 0000250|UniProtKB P24524, ECO 0000250|UniProtKB Q91XP5, ECO 0000269|PubMed 26416729, ECO 0000269|PubMed 9677400}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IDA:UniProtKB. # GO_component GO:0016935 glycine-gated chloride channel complex; IDA:UniProtKB. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0030425 dendrite; IEA:UniProtKB-SubCell. # GO_component GO:0043204 perikaryon; IEA:UniProtKB-SubCell. # GO_component GO:0045211 postsynaptic membrane; IEA:UniProtKB-SubCell. # GO_function GO:0016594 glycine binding; IEA:InterPro. # GO_function GO:0016934 extracellular-glycine-gated chloride channel activity; IDA:UniProtKB. # GO_function GO:0022852 glycine-gated chloride ion channel activity; IDA:UniProtKB. # GO_function GO:0046872 metal ion binding; IEA:UniProtKB-KW. # GO_process GO:0007218 neuropeptide signaling pathway; IBA:GO_Central. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0043200 response to amino acid; IBA:GO_Central. # GO_process GO:0051260 protein homooligomerization; IDA:UniProtKB. # GO_process GO:0060012 synaptic transmission, glycinergic; IBA:GO_Central. # GO_process GO:1902476 chloride transmembrane transport; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # GOslim_process GO:0055085 transmembrane transport # Gene3D 2.70.170.10 -; 1. # Genevisible O75311 HS # HGNC HGNC:4328 GLRA3 # InterPro IPR006028 GABAA/Glycine_rcpt # InterPro IPR006029 Neurotrans-gated_channel_TM # InterPro IPR006201 Neur_channel # InterPro IPR006202 Neur_chan_lig-bd # InterPro IPR008127 Glycine_rcpt_A # InterPro IPR008130 Glycine_rcpt_A3 # InterPro IPR018000 Neurotransmitter_ion_chnl_CS # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04080 Neuroactive ligand-receptor interaction # MIM 600421 gene # MISCELLANEOUS The alpha subunit binds strychnine. {ECO:0000269|PubMed 26416729}. # Organism GLRA3_HUMAN Homo sapiens (Human) # PDB 5CFB X-ray; 3.04 A; A/B/C/D/E=34-342, A/B/C/D/E=419-460 # PRINTS PR00252 NRIONCHANNEL # PRINTS PR00253 GABAARECEPTR # PRINTS PR01673 GLYRALPHA # PRINTS PR01676 GLYRALPHA3 # PROSITE PS00236 NEUROTR_ION_CHANNEL # PTM GLRA3_HUMAN Phosphorylated by PKA; this causes down-regulation of channel activity. {ECO 0000250|UniProtKB P24524}. # Pfam PF02931 Neur_chan_LBD # Pfam PF02932 Neur_chan_memb # Proteomes UP000005640 Chromosome 4 # Reactome R-HSA-975298 Ligand-gated ion channel transport # RecName GLRA3_HUMAN Glycine receptor subunit alpha-3 # RefSeq NP_001036008 NM_001042543.2. [O75311-2] # RefSeq NP_006520 NM_006529.3. [O75311-1] # SIMILARITY Belongs to the ligand-gated ion channel (TC 1.A.9) family. Glycine receptor (TC 1.A.9.3) subfamily. GLRA3 sub- subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION GLRA3_HUMAN Cell junction, synapse, postsynaptic cell membrane {ECO 0000250|UniProtKB P24524}; Multi-pass membrane protein {ECO 0000305}. Perikaryon {ECO 0000250|UniProtKB P24524}. Cell projection, dendrite {ECO 0000250|UniProtKB P24524}. Cell junction, synapse {ECO 0000250|UniProtKB P24524}. Cell membrane {ECO 0000269|PubMed 26416729, ECO 0000269|PubMed 9677400}; Multi- pass membrane protein {ECO 0000269|PubMed 26416729}. Note=Partially colocalizes with GPHN that is known to mediate receptor clustering at postsynaptic membranes. {ECO 0000250|UniProtKB P24524}. # SUBUNIT GLRA3_HUMAN Homopentamer (in vitro) (PubMed 26416729). Heteropentamer composed of GLRA3 and GLRB. Both homopentamers and heteropentamers form functional ion channels, but their characteristics are subtly different (By similarity). {ECO 0000250|UniProtKB P24524, ECO 0000269|PubMed 26416729}. # SUPFAM SSF63712 SSF63712 # SUPFAM SSF90112 SSF90112 # TCDB 1.A.9.3 the neurotransmitter receptor, cys loop, ligand-gated ion channel (lic) family # TIGRFAMs TIGR00860 LIC # TISSUE SPECIFICITY Widely distributed throughout the central nervous system. {ECO:0000269|PubMed 9677400}. # UCSC uc003ity human. [O75311-1] # eggNOG ENOG410XPWH LUCA # eggNOG KOG3643 Eukaryota BLAST swissprot:GLRA3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:GLRA3_HUMAN BioCyc ZFISH:ENSG00000145451-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000145451-MONOMER COXPRESdb 8001 http://coxpresdb.jp/data/gene/8001.shtml CleanEx HS_GLRA3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_GLRA3 DIP DIP-61773N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-61773N DOI 10.1038/nature14972 http://dx.doi.org/10.1038/nature14972 DOI 10.1074/jbc.273.31.19708 http://dx.doi.org/10.1074/jbc.273.31.19708 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DrugBank DB00145 http://www.drugbank.ca/drugs/DB00145 DrugBank DB00431 http://www.drugbank.ca/drugs/DB00431 DrugBank DB00602 http://www.drugbank.ca/drugs/DB00602 EMBL AF017715 http://www.ebi.ac.uk/ena/data/view/AF017715 EMBL AF017716 http://www.ebi.ac.uk/ena/data/view/AF017716 EMBL AF017717 http://www.ebi.ac.uk/ena/data/view/AF017717 EMBL AF017718 http://www.ebi.ac.uk/ena/data/view/AF017718 EMBL AF017719 http://www.ebi.ac.uk/ena/data/view/AF017719 EMBL AF017720 http://www.ebi.ac.uk/ena/data/view/AF017720 EMBL AF017721 http://www.ebi.ac.uk/ena/data/view/AF017721 EMBL AF017722 http://www.ebi.ac.uk/ena/data/view/AF017722 EMBL AF017723 http://www.ebi.ac.uk/ena/data/view/AF017723 EMBL AF017724 http://www.ebi.ac.uk/ena/data/view/AF017724 EMBL BC036086 http://www.ebi.ac.uk/ena/data/view/BC036086 EMBL CH471056 http://www.ebi.ac.uk/ena/data/view/CH471056 EMBL CH471056 http://www.ebi.ac.uk/ena/data/view/CH471056 EMBL U93917 http://www.ebi.ac.uk/ena/data/view/U93917 Ensembl ENST00000274093 http://www.ensembl.org/id/ENST00000274093 Ensembl ENST00000340217 http://www.ensembl.org/id/ENST00000340217 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016935 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016935 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0030425 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030425 GO_component GO:0043204 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043204 GO_component GO:0045211 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045211 GO_function GO:0016594 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016594 GO_function GO:0016934 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016934 GO_function GO:0022852 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022852 GO_function GO:0046872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046872 GO_process GO:0007218 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007218 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0043200 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043200 GO_process GO:0051260 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051260 GO_process GO:0060012 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060012 GO_process GO:1902476 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902476 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 2.70.170.10 http://www.cathdb.info/version/latest/superfamily/2.70.170.10 GeneCards GLRA3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=GLRA3 GeneID 8001 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=8001 GeneTree ENSGT00760000118821 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118821 HGNC HGNC:4328 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:4328 HOGENOM HOG000231336 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231336&db=HOGENOM6 HOVERGEN HBG051707 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG051707&db=HOVERGEN InParanoid O75311 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O75311 InterPro IPR006028 http://www.ebi.ac.uk/interpro/entry/IPR006028 InterPro IPR006029 http://www.ebi.ac.uk/interpro/entry/IPR006029 InterPro IPR006201 http://www.ebi.ac.uk/interpro/entry/IPR006201 InterPro IPR006202 http://www.ebi.ac.uk/interpro/entry/IPR006202 InterPro IPR008127 http://www.ebi.ac.uk/interpro/entry/IPR008127 InterPro IPR008130 http://www.ebi.ac.uk/interpro/entry/IPR008130 InterPro IPR018000 http://www.ebi.ac.uk/interpro/entry/IPR018000 Jabion 8001 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=8001 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:8001 http://www.genome.jp/dbget-bin/www_bget?hsa:8001 KEGG_Orthology KO:K05195 http://www.genome.jp/dbget-bin/www_bget?KO:K05195 KEGG_Pathway ko04080 http://www.genome.jp/kegg-bin/show_pathway?ko04080 MIM 600421 http://www.ncbi.nlm.nih.gov/omim/600421 OMA PKNSDEM http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=PKNSDEM OrthoDB EOG091G0805 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0805 PDB 5CFB http://www.ebi.ac.uk/pdbe-srv/view/entry/5CFB PDBsum 5CFB http://www.ebi.ac.uk/pdbsum/5CFB PRINTS PR00252 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00252 PRINTS PR00253 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00253 PRINTS PR01673 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01673 PRINTS PR01676 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01676 PROSITE PS00236 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00236 PSORT swissprot:GLRA3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:GLRA3_HUMAN PSORT-B swissprot:GLRA3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:GLRA3_HUMAN PSORT2 swissprot:GLRA3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:GLRA3_HUMAN Pfam PF02931 http://pfam.xfam.org/family/PF02931 Pfam PF02932 http://pfam.xfam.org/family/PF02932 PharmGKB PA28729 http://www.pharmgkb.org/do/serve?objId=PA28729&objCls=Gene Phobius swissprot:GLRA3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:GLRA3_HUMAN PhylomeDB O75311 http://phylomedb.org/?seqid=O75311 ProteinModelPortal O75311 http://www.proteinmodelportal.org/query/uniprot/O75311 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 26416729 http://www.ncbi.nlm.nih.gov/pubmed/26416729 PubMed 9677400 http://www.ncbi.nlm.nih.gov/pubmed/9677400 Reactome R-HSA-975298 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-975298 RefSeq NP_001036008 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001036008 RefSeq NP_006520 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_006520 SMR O75311 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=O75311 STRING 9606.ENSP00000274093 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000274093&targetmode=cogs SUPFAM SSF63712 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF63712 SUPFAM SSF90112 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF90112 TCDB 1.A.9.3 http://www.tcdb.org/search/result.php?tc=1.A.9.3 TIGRFAMs TIGR00860 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00860 UCSC uc003ity http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003ity&org=rat UniGene Hs.413099 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.413099 UniProtKB GLRA3_HUMAN http://www.uniprot.org/uniprot/GLRA3_HUMAN UniProtKB-AC O75311 http://www.uniprot.org/uniprot/O75311 charge swissprot:GLRA3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:GLRA3_HUMAN eggNOG ENOG410XPWH http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XPWH eggNOG KOG3643 http://eggnogapi.embl.de/nog_data/html/tree/KOG3643 epestfind swissprot:GLRA3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:GLRA3_HUMAN garnier swissprot:GLRA3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:GLRA3_HUMAN helixturnhelix swissprot:GLRA3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:GLRA3_HUMAN hmoment swissprot:GLRA3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:GLRA3_HUMAN iep swissprot:GLRA3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:GLRA3_HUMAN inforesidue swissprot:GLRA3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:GLRA3_HUMAN neXtProt NX_O75311 http://www.nextprot.org/db/entry/NX_O75311 octanol swissprot:GLRA3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:GLRA3_HUMAN pepcoil swissprot:GLRA3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:GLRA3_HUMAN pepdigest swissprot:GLRA3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:GLRA3_HUMAN pepinfo swissprot:GLRA3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:GLRA3_HUMAN pepnet swissprot:GLRA3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:GLRA3_HUMAN pepstats swissprot:GLRA3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:GLRA3_HUMAN pepwheel swissprot:GLRA3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:GLRA3_HUMAN pepwindow swissprot:GLRA3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:GLRA3_HUMAN sigcleave swissprot:GLRA3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:GLRA3_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS Event=Alternative splicing; Named isoforms=3; Name=3; IsoId=P45880-3; Sequence=Displayed; Name=1; IsoId=P45880-1; Sequence=VSP_005077; Note=Ref.1 (AAA60144) sequence differs from that shown due to a frameshift in position 303. {ECO:0000305}; Name=2; IsoId=P45880-2; Sequence=VSP_005076; Note=Ref.1 (AAA60145) sequence differs from that shown due to a frameshift in position 277. {ECO 0000305}; # AltName VDAC2_HUMAN Outer mitochondrial membrane protein porin 2 # BioGrid 113260 129 # CCDS CCDS53544 -. [P45880-1] # CCDS CCDS7348 -. [P45880-3] # DOMAIN VDAC2_HUMAN Consists mainly of a membrane-spanning beta-barrel formed by 19 beta-strands. {ECO 0000250}. # DrugBank DB01375 Dihydroxyaluminium # Ensembl ENST00000313132 ENSP00000361635; ENSG00000165637. [P45880-1] # Ensembl ENST00000332211 ENSP00000361686; ENSG00000165637. [P45880-3] # Ensembl ENST00000543351 ENSP00000443092; ENSG00000165637. [P45880-3] # ExpressionAtlas P45880 baseline and differential # FUNCTION VDAC2_HUMAN Forms a channel through the mitochondrial outer membrane that allows diffusion of small hydrophilic molecules. The channel adopts an open conformation at low or zero membrane potential and a closed conformation at potentials above 30-40 mV. The open state has a weak anion selectivity whereas the closed state is cation- selective. # GO_component GO:0005634 nucleus; IDA:UniProtKB. # GO_component GO:0005739 mitochondrion; IDA:UniProtKB. # GO_component GO:0005741 mitochondrial outer membrane; IEA:UniProtKB-SubCell. # GO_component GO:0005743 mitochondrial inner membrane; IEA:Ensembl. # GO_component GO:0008021 synaptic vesicle; IEA:Ensembl. # GO_component GO:0042645 mitochondrial nucleoid; IDA:BHF-UCL. # GO_component GO:0043209 myelin sheath; IEA:Ensembl. # GO_component GO:0045121 membrane raft; IDA:UniProtKB. # GO_component GO:0046930 pore complex; IEA:UniProtKB-KW. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0000166 nucleotide binding; IEA:UniProtKB-KW. # GO_function GO:0008308 voltage-gated anion channel activity; IDA:UniProtKB. # GO_function GO:0015288 porin activity; IEA:UniProtKB-KW. # GO_process GO:0006820 anion transport; IDA:UniProtKB. # GO_process GO:0032272 negative regulation of protein polymerization; IEA:Ensembl. # GO_process GO:2001243 negative regulation of intrinsic apoptotic signaling pathway; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005739 mitochondrion # GOslim_component GO:0031410 cytoplasmic vesicle # GOslim_component GO:0043226 organelle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # Gene3D 2.40.160.10 -; 1. # Genevisible P45880 HS # HGNC HGNC:12672 VDAC2 # INTERACTION VDAC2_HUMAN Q96A26 FAM162A; NbExp=2; IntAct=EBI-354022, EBI-6123466; # IntAct P45880 43 # InterPro IPR001925 Porin_Euk # InterPro IPR023614 Porin_dom # InterPro IPR027246 Porin_Euk/Tom40 # InterPro IPR030277 VDAC2 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02000 Transporters # KEGG_Pathway ko04020 Calcium signaling pathway # KEGG_Pathway ko05012 Parkinson's disease # KEGG_Pathway ko05016 Huntington's disease # KEGG_Pathway ko05166 HTLV-I infection # MIM 193245 gene # Organism VDAC2_HUMAN Homo sapiens (Human) # PANTHER PTHR11743:SF12 PTHR11743:SF12 # PIR A45972 A45972 # PIR B44422 B44422 # PRINTS PR00185 EUKARYTPORIN # PROSITE PS00558 EUKARYOTIC_PORIN # PTM VDAC2_HUMAN Ubiquitinated by PARK2 during mitophagy, leading to its degradation and enhancement of mitophagy. Deubiquitinated by USP30. {ECO 0000269|PubMed 25621951}. # Pfam PF01459 Porin_3 # Proteomes UP000005640 Chromosome 10 # Reactome R-HSA-5689880 Ub-specific processing proteases # RecName VDAC2_HUMAN Voltage-dependent anion-selective channel protein 2 # RefSeq NP_001171712 NM_001184783.2. [P45880-1] # RefSeq NP_001171752 NM_001184823.1. [P45880-3] # RefSeq NP_001311017 NM_001324088.1. [P45880-3] # RefSeq NP_003366 NM_003375.4. [P45880-3] # SEQUENCE CAUTION Sequence=CAH73106.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI40910.1; Type=Erroneous gene model prediction; Evidence={ECO 0000305}; # SIMILARITY Belongs to the eukaryotic mitochondrial porin family. {ECO 0000305}. # SUBCELLULAR LOCATION VDAC2_HUMAN Mitochondrion outer membrane {ECO 0000269|PubMed 7539795}. # SUBUNIT Interacts with hexokinases. {ECO 0000250}. # TCDB 1.B.8.1.12 the mitochondrial and plastid porin (mpp) family # TISSUE SPECIFICITY VDAC2_HUMAN Expressed in all tissues examined. # TopDownProteomics P45880-3 -. [P45880-3] # UCSC uc001jwz human. [P45880-3] # eggNOG ENOG410ZBK1 LUCA # eggNOG KOG3126 Eukaryota BLAST swissprot:VDAC2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:VDAC2_HUMAN BioCyc ZFISH:ENSG00000165637-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000165637-MONOMER COXPRESdb 7417 http://coxpresdb.jp/data/gene/7417.shtml CleanEx HS_VDAC2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_VDAC2 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1007/s003359901158 http://dx.doi.org/10.1007/s003359901158 DOI 10.1016/j.cell.2006.09.026 http://dx.doi.org/10.1016/j.cell.2006.09.026 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1016/j.molcel.2008.07.007 http://dx.doi.org/10.1016/j.molcel.2008.07.007 DOI 10.1021/ac9004309 http://dx.doi.org/10.1021/ac9004309 DOI 10.1021/pr0704130 http://dx.doi.org/10.1021/pr0704130 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature02462 http://dx.doi.org/10.1038/nature02462 DOI 10.1038/ncb3097 http://dx.doi.org/10.1038/ncb3097 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1074/jbc.270.23.13998 http://dx.doi.org/10.1074/jbc.270.23.13998 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1175371 http://dx.doi.org/10.1126/science.1175371 DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 DOI 10.1126/scisignal.2001570 http://dx.doi.org/10.1126/scisignal.2001570 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DrugBank DB01375 http://www.drugbank.ca/drugs/DB01375 EMBL AF152220 http://www.ebi.ac.uk/ena/data/view/AF152220 EMBL AF152221 http://www.ebi.ac.uk/ena/data/view/AF152221 EMBL AF152222 http://www.ebi.ac.uk/ena/data/view/AF152222 EMBL AF152223 http://www.ebi.ac.uk/ena/data/view/AF152223 EMBL AF152224 http://www.ebi.ac.uk/ena/data/view/AF152224 EMBL AF152225 http://www.ebi.ac.uk/ena/data/view/AF152225 EMBL AF152226 http://www.ebi.ac.uk/ena/data/view/AF152226 EMBL AF152227 http://www.ebi.ac.uk/ena/data/view/AF152227 EMBL AL390034 http://www.ebi.ac.uk/ena/data/view/AL390034 EMBL AL390034 http://www.ebi.ac.uk/ena/data/view/AL390034 EMBL AL390034 http://www.ebi.ac.uk/ena/data/view/AL390034 EMBL AL390034 http://www.ebi.ac.uk/ena/data/view/AL390034 EMBL AL390034 http://www.ebi.ac.uk/ena/data/view/AL390034 EMBL AL390034 http://www.ebi.ac.uk/ena/data/view/AL390034 EMBL AL392111 http://www.ebi.ac.uk/ena/data/view/AL392111 EMBL AL392111 http://www.ebi.ac.uk/ena/data/view/AL392111 EMBL AL392111 http://www.ebi.ac.uk/ena/data/view/AL392111 EMBL AL392111 http://www.ebi.ac.uk/ena/data/view/AL392111 EMBL AL392111 http://www.ebi.ac.uk/ena/data/view/AL392111 EMBL AL392111 http://www.ebi.ac.uk/ena/data/view/AL392111 EMBL BC000165 http://www.ebi.ac.uk/ena/data/view/BC000165 EMBL BC012883 http://www.ebi.ac.uk/ena/data/view/BC012883 EMBL BC072407 http://www.ebi.ac.uk/ena/data/view/BC072407 EMBL CR456964 http://www.ebi.ac.uk/ena/data/view/CR456964 EMBL L06328 http://www.ebi.ac.uk/ena/data/view/L06328 EMBL L08666 http://www.ebi.ac.uk/ena/data/view/L08666 EMBL L08666 http://www.ebi.ac.uk/ena/data/view/L08666 Ensembl ENST00000313132 http://www.ensembl.org/id/ENST00000313132 Ensembl ENST00000332211 http://www.ensembl.org/id/ENST00000332211 Ensembl ENST00000543351 http://www.ensembl.org/id/ENST00000543351 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005741 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005741 GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0008021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008021 GO_component GO:0042645 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042645 GO_component GO:0043209 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043209 GO_component GO:0045121 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045121 GO_component GO:0046930 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046930 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0000166 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000166 GO_function GO:0008308 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008308 GO_function GO:0015288 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015288 GO_process GO:0006820 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006820 GO_process GO:0032272 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032272 GO_process GO:2001243 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2001243 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_component GO:0031410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 Gene3D 2.40.160.10 http://www.cathdb.info/version/latest/superfamily/2.40.160.10 GeneCards VDAC2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=VDAC2 GeneID 7417 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=7417 GeneTree ENSGT00390000011336 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000011336 H-InvDB HIX0029994 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0029994 HGNC HGNC:12672 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:12672 HOVERGEN HBG054036 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG054036&db=HOVERGEN HPA HPA043475 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA043475 InParanoid P45880 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P45880 IntAct P45880 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P45880* InterPro IPR001925 http://www.ebi.ac.uk/interpro/entry/IPR001925 InterPro IPR023614 http://www.ebi.ac.uk/interpro/entry/IPR023614 InterPro IPR027246 http://www.ebi.ac.uk/interpro/entry/IPR027246 InterPro IPR030277 http://www.ebi.ac.uk/interpro/entry/IPR030277 Jabion 7417 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=7417 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Gene hsa:7417 http://www.genome.jp/dbget-bin/www_bget?hsa:7417 KEGG_Orthology KO:K15040 http://www.genome.jp/dbget-bin/www_bget?KO:K15040 KEGG_Pathway ko04020 http://www.genome.jp/kegg-bin/show_pathway?ko04020 KEGG_Pathway ko05012 http://www.genome.jp/kegg-bin/show_pathway?ko05012 KEGG_Pathway ko05016 http://www.genome.jp/kegg-bin/show_pathway?ko05016 KEGG_Pathway ko05166 http://www.genome.jp/kegg-bin/show_pathway?ko05166 MIM 193245 http://www.ncbi.nlm.nih.gov/omim/193245 MINT MINT-3016132 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-3016132 OMA MCVPPSY http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=MCVPPSY OrthoDB EOG091G0F0O http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0F0O PANTHER PTHR11743:SF12 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11743:SF12 PRINTS PR00185 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00185 PROSITE PS00558 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00558 PSORT swissprot:VDAC2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:VDAC2_HUMAN PSORT-B swissprot:VDAC2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:VDAC2_HUMAN PSORT2 swissprot:VDAC2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:VDAC2_HUMAN Pfam PF01459 http://pfam.xfam.org/family/PF01459 PharmGKB PA37295 http://www.pharmgkb.org/do/serve?objId=PA37295&objCls=Gene Phobius swissprot:VDAC2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:VDAC2_HUMAN PhylomeDB P45880 http://phylomedb.org/?seqid=P45880 ProteinModelPortal P45880 http://www.proteinmodelportal.org/query/uniprot/P45880 PubMed 10501981 http://www.ncbi.nlm.nih.gov/pubmed/10501981 PubMed 15164054 http://www.ncbi.nlm.nih.gov/pubmed/15164054 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 17081983 http://www.ncbi.nlm.nih.gov/pubmed/17081983 PubMed 18088087 http://www.ncbi.nlm.nih.gov/pubmed/18088087 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 18691976 http://www.ncbi.nlm.nih.gov/pubmed/18691976 PubMed 19413330 http://www.ncbi.nlm.nih.gov/pubmed/19413330 PubMed 19608861 http://www.ncbi.nlm.nih.gov/pubmed/19608861 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 21406692 http://www.ncbi.nlm.nih.gov/pubmed/21406692 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 25621951 http://www.ncbi.nlm.nih.gov/pubmed/25621951 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 7539795 http://www.ncbi.nlm.nih.gov/pubmed/7539795 PubMed 7685033 http://www.ncbi.nlm.nih.gov/pubmed/7685033 PubMed 8420959 http://www.ncbi.nlm.nih.gov/pubmed/8420959 Reactome R-HSA-5689880 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5689880 RefSeq NP_001171712 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001171712 RefSeq NP_001171752 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001171752 RefSeq NP_001311017 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001311017 RefSeq NP_003366 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_003366 SMR P45880 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P45880 STRING 9606.ENSP00000361635 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000361635&targetmode=cogs SWISS-2DPAGE P45880 http://world-2dpage.expasy.org/swiss-2dpage/protein/ac=P45880 TCDB 1.B.8.1.12 http://www.tcdb.org/search/result.php?tc=1.B.8.1.12 UCSC uc001jwz http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001jwz&org=rat UniGene Hs.355927 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.355927 UniProtKB VDAC2_HUMAN http://www.uniprot.org/uniprot/VDAC2_HUMAN UniProtKB-AC P45880 http://www.uniprot.org/uniprot/P45880 charge swissprot:VDAC2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:VDAC2_HUMAN eggNOG ENOG410ZBK1 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410ZBK1 eggNOG KOG3126 http://eggnogapi.embl.de/nog_data/html/tree/KOG3126 epestfind swissprot:VDAC2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:VDAC2_HUMAN garnier swissprot:VDAC2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:VDAC2_HUMAN helixturnhelix swissprot:VDAC2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:VDAC2_HUMAN hmoment swissprot:VDAC2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:VDAC2_HUMAN iep swissprot:VDAC2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:VDAC2_HUMAN inforesidue swissprot:VDAC2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:VDAC2_HUMAN neXtProt NX_P45880 http://www.nextprot.org/db/entry/NX_P45880 octanol swissprot:VDAC2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:VDAC2_HUMAN pepcoil swissprot:VDAC2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:VDAC2_HUMAN pepdigest swissprot:VDAC2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:VDAC2_HUMAN pepinfo swissprot:VDAC2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:VDAC2_HUMAN pepnet swissprot:VDAC2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:VDAC2_HUMAN pepstats swissprot:VDAC2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:VDAC2_HUMAN pepwheel swissprot:VDAC2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:VDAC2_HUMAN pepwindow swissprot:VDAC2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:VDAC2_HUMAN sigcleave swissprot:VDAC2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:VDAC2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS KCND1_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NSA2-1; Sequence=Displayed; Name=2; IsoId=Q9NSA2-2; Sequence=VSP_057040; Note=No experimental confirmation available.; # AltName KCND1_HUMAN Voltage-gated potassium channel subunit Kv4.1 # CCDS CCDS14314 -. [Q9NSA2-1] # DOMAIN KCND1_HUMAN The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position. # DrugBank DB06637 Dalfampridine # Ensembl ENST00000218176 ENSP00000218176; ENSG00000102057. [Q9NSA2-1] # Ensembl ENST00000376477 ENSP00000365660; ENSG00000102057. [Q9NSA2-2] # ExpressionAtlas Q9NSA2 baseline and differential # FUNCTION KCND1_HUMAN Pore-forming (alpha) subunit of voltage-gated rapidly inactivating A-type potassium channels. May contribute to I(To) current in heart and I(Sa) current in neurons. Channel properties are modulated by interactions with other alpha subunits and with regulatory subunits. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0008076 voltage-gated potassium channel complex; IEA:InterPro. # GO_component GO:0016021 integral component of membrane; IBA:GO_Central. # GO_component GO:0030425 dendrite; IEA:UniProtKB-SubCell. # GO_component GO:0043025 neuronal cell body; IEA:Ensembl. # GO_function GO:0005250 A-type (transient outward) potassium channel activity; IBA:GO_Central. # GO_function GO:0046872 metal ion binding; IEA:UniProtKB-KW. # GO_process GO:0051260 protein homooligomerization; IEA:InterPro. # GO_process GO:0061337 cardiac conduction; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0008150 biological_process # Gene3D 1.20.120.350 -; 1. # Genevisible Q9NSA2 HS # HGNC HGNC:6237 KCND1 # InterPro IPR000210 BTB/POZ_dom # InterPro IPR003131 T1-type_BTB # InterPro IPR003968 K_chnl_volt-dep_Kv # InterPro IPR003975 K_chnl_volt-dep_Kv4 # InterPro IPR004054 K_chnl_volt-dep_Kv4.1 # InterPro IPR005821 Ion_trans_dom # InterPro IPR011333 SKP1/BTB/POZ # InterPro IPR021645 Shal-type_N # InterPro IPR024587 K_chnl_volt-dep_Kv4_C # InterPro IPR027359 Channel_four-helix_dom # InterPro IPR028325 VG_K_chnl # KEGG_Brite ko04040 Ion channels # MIM 300281 gene # Organism KCND1_HUMAN Homo sapiens (Human) # PANTHER PTHR11537 PTHR11537 # PRINTS PR00169 KCHANNEL # PRINTS PR01491 KVCHANNEL # PRINTS PR01497 SHALCHANNEL # PRINTS PR01516 KV41CHANNEL # Pfam PF00520 Ion_trans # Pfam PF02214 BTB_2 # Pfam PF11601 Shal-type # Pfam PF11879 DUF3399 # Proteomes UP000005640 Chromosome X # Reactome R-HSA-1296072 Voltage gated Potassium channels # Reactome R-HSA-5576894 Phase 1 - inactivation of fast Na+ channels # RecName KCND1_HUMAN Potassium voltage-gated channel subfamily D member 1 # RefSeq NP_004970 NM_004979.5. [Q9NSA2-1] # RefSeq XP_011542212 XM_011543910.2. [Q9NSA2-1] # SIMILARITY Belongs to the potassium channel family. D (Shal) (TC 1.A.1.2) subfamily. Kv4.1/KCND1 sub-subfamily. {ECO 0000305}. # SMART SM00225 BTB # SUBCELLULAR LOCATION KCND1_HUMAN Membrane; Multi-pass membrane protein. Cell projection, dendrite {ECO 0000250}. # SUBUNIT Homotetramer or heterotetramer with KCND2 and/or KCND3. Associates with the regulatory subunits KCNIP1, KCNIP2, KCNIP3 and KCNIP4 (By similarity). Interacts with DPP10 (Probable). {ECO:0000250, ECO 0000305}. # SUPFAM SSF54695 SSF54695 # TISSUE SPECIFICITY Widely expressed. Highly expressed in brain, in particular in cerebellum and thalamus; detected at lower levels in the other parts of the brain. {ECO:0000269|PubMed 10729221}. # UCSC uc004dlw human. [Q9NSA2-1] # eggNOG COG1226 LUCA # eggNOG KOG4390 Eukaryota BLAST swissprot:KCND1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCND1_HUMAN COXPRESdb 3750 http://coxpresdb.jp/data/gene/3750.shtml CleanEx HS_KCND1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCND1 DOI 10.1006/geno.2000.6117 http://dx.doi.org/10.1006/geno.2000.6117 DOI 10.1038/nature03440 http://dx.doi.org/10.1038/nature03440 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1529/biophysj.104.042358 http://dx.doi.org/10.1529/biophysj.104.042358 DrugBank DB06637 http://www.drugbank.ca/drugs/DB06637 EMBL AB021865 http://www.ebi.ac.uk/ena/data/view/AB021865 EMBL AF166003 http://www.ebi.ac.uk/ena/data/view/AF166003 EMBL AF166004 http://www.ebi.ac.uk/ena/data/view/AF166004 EMBL AF166005 http://www.ebi.ac.uk/ena/data/view/AF166005 EMBL AF166006 http://www.ebi.ac.uk/ena/data/view/AF166006 EMBL AF207550 http://www.ebi.ac.uk/ena/data/view/AF207550 EMBL AJ005898 http://www.ebi.ac.uk/ena/data/view/AJ005898 EMBL AK094431 http://www.ebi.ac.uk/ena/data/view/AK094431 EMBL AK315092 http://www.ebi.ac.uk/ena/data/view/AK315092 EMBL BC045659 http://www.ebi.ac.uk/ena/data/view/BC045659 EMBL CH471224 http://www.ebi.ac.uk/ena/data/view/CH471224 EMBL CH471224 http://www.ebi.ac.uk/ena/data/view/CH471224 Ensembl ENST00000218176 http://www.ensembl.org/id/ENST00000218176 Ensembl ENST00000376477 http://www.ensembl.org/id/ENST00000376477 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0008076 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008076 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0030425 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030425 GO_component GO:0043025 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043025 GO_function GO:0005250 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005250 GO_function GO:0046872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046872 GO_process GO:0051260 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051260 GO_process GO:0061337 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061337 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 Gene3D 1.20.120.350 http://www.cathdb.info/version/latest/superfamily/1.20.120.350 GeneCards KCND1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCND1 GeneID 3750 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=3750 GeneTree ENSGT00760000118846 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118846 HGNC HGNC:6237 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6237 HOGENOM HOG000231013 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231013&db=HOGENOM6 HOVERGEN HBG106687 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG106687&db=HOVERGEN HPA HPA000524 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA000524 HPA HPA001066 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA001066 InParanoid Q9NSA2 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9NSA2 InterPro IPR000210 http://www.ebi.ac.uk/interpro/entry/IPR000210 InterPro IPR003131 http://www.ebi.ac.uk/interpro/entry/IPR003131 InterPro IPR003968 http://www.ebi.ac.uk/interpro/entry/IPR003968 InterPro IPR003975 http://www.ebi.ac.uk/interpro/entry/IPR003975 InterPro IPR004054 http://www.ebi.ac.uk/interpro/entry/IPR004054 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR011333 http://www.ebi.ac.uk/interpro/entry/IPR011333 InterPro IPR021645 http://www.ebi.ac.uk/interpro/entry/IPR021645 InterPro IPR024587 http://www.ebi.ac.uk/interpro/entry/IPR024587 InterPro IPR027359 http://www.ebi.ac.uk/interpro/entry/IPR027359 InterPro IPR028325 http://www.ebi.ac.uk/interpro/entry/IPR028325 Jabion 3750 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=3750 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:3750 http://www.genome.jp/dbget-bin/www_bget?hsa:3750 KEGG_Orthology KO:K04891 http://www.genome.jp/dbget-bin/www_bget?KO:K04891 MIM 300281 http://www.ncbi.nlm.nih.gov/omim/300281 OMA PREQPCG http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=PREQPCG OrthoDB EOG091G18X0 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G18X0 PANTHER PTHR11537 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11537 PRINTS PR00169 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00169 PRINTS PR01491 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01491 PRINTS PR01497 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01497 PRINTS PR01516 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01516 PSORT swissprot:KCND1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCND1_HUMAN PSORT-B swissprot:KCND1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCND1_HUMAN PSORT2 swissprot:KCND1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCND1_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF02214 http://pfam.xfam.org/family/PF02214 Pfam PF11601 http://pfam.xfam.org/family/PF11601 Pfam PF11879 http://pfam.xfam.org/family/PF11879 PharmGKB PA30029 http://www.pharmgkb.org/do/serve?objId=PA30029&objCls=Gene Phobius swissprot:KCND1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCND1_HUMAN PhylomeDB Q9NSA2 http://phylomedb.org/?seqid=Q9NSA2 ProteinModelPortal Q9NSA2 http://www.proteinmodelportal.org/query/uniprot/Q9NSA2 PubMed 10729221 http://www.ncbi.nlm.nih.gov/pubmed/10729221 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15454437 http://www.ncbi.nlm.nih.gov/pubmed/15454437 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15772651 http://www.ncbi.nlm.nih.gov/pubmed/15772651 Reactome R-HSA-1296072 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1296072 Reactome R-HSA-5576894 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576894 RefSeq NP_004970 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004970 RefSeq XP_011542212 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011542212 SMART SM00225 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00225 SMR Q9NSA2 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9NSA2 STRING 9606.ENSP00000218176 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000218176&targetmode=cogs SUPFAM SSF54695 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF54695 UCSC uc004dlw http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc004dlw&org=rat UniGene Hs.55276 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.55276 UniProtKB KCND1_HUMAN http://www.uniprot.org/uniprot/KCND1_HUMAN UniProtKB-AC Q9NSA2 http://www.uniprot.org/uniprot/Q9NSA2 charge swissprot:KCND1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCND1_HUMAN eggNOG COG1226 http://eggnogapi.embl.de/nog_data/html/tree/COG1226 eggNOG KOG4390 http://eggnogapi.embl.de/nog_data/html/tree/KOG4390 epestfind swissprot:KCND1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCND1_HUMAN garnier swissprot:KCND1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCND1_HUMAN helixturnhelix swissprot:KCND1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCND1_HUMAN hmoment swissprot:KCND1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCND1_HUMAN iep swissprot:KCND1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCND1_HUMAN inforesidue swissprot:KCND1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCND1_HUMAN neXtProt NX_Q9NSA2 http://www.nextprot.org/db/entry/NX_Q9NSA2 octanol swissprot:KCND1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCND1_HUMAN pepcoil swissprot:KCND1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCND1_HUMAN pepdigest swissprot:KCND1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCND1_HUMAN pepinfo swissprot:KCND1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCND1_HUMAN pepnet swissprot:KCND1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCND1_HUMAN pepstats swissprot:KCND1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCND1_HUMAN pepwheel swissprot:KCND1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCND1_HUMAN pepwindow swissprot:KCND1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCND1_HUMAN sigcleave swissprot:KCND1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCND1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS PGAP2_HUMAN Event=Alternative splicing; Named isoforms=5; Name=2; IsoId=Q9UHJ9-1; Sequence=Displayed; Name=1; IsoId=Q9UHJ9-2; Sequence=VSP_032550; Note=This isoform is predicted to contain an additional transmembrane domain at position 85-105. If this domain exists, the topology of the protein would be modified, possibly challenging the GPI-anchor remodeling function of the protein.; Name=3; IsoId=Q9UHJ9-3; Sequence=VSP_032551; Name=4; IsoId=Q9UHJ9-4; Sequence=VSP_045984, VSP_045985; Note=No experimental confirmation available.; Name=5; IsoId=Q9UHJ9-5; Sequence=VSP_053800, VSP_032551; Note=No experimental confirmation available.; # AltName PGAP2_HUMAN FGF receptor-activating protein 1 # BioGrid 118133 8 # CCDS CCDS44523 -. [Q9UHJ9-5] # CCDS CCDS58112 -. [Q9UHJ9-1] # CCDS CCDS58113 -. [Q9UHJ9-4] # CCDS CCDS7747 -. [Q9UHJ9-2] # ChiTaRS PGAP2 human # DISEASE PGAP2_HUMAN Hyperphosphatasia with mental retardation syndrome 3 (HPMRS3) [MIM 614207] An autosomal recessive disorder usually characterized by mental retardation, hypotonia with very poor motor development, poor speech, and increased serum alkaline phosphatase. {ECO 0000269|PubMed 23561846, ECO 0000269|PubMed 23561847}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000278243 ENSP00000278243; ENSG00000148985. [Q9UHJ9-2] # Ensembl ENST00000300730 ENSP00000300730; ENSG00000148985. [Q9UHJ9-5] # Ensembl ENST00000463452 ENSP00000435223; ENSG00000148985. [Q9UHJ9-1] # Ensembl ENST00000464906 ENSP00000434631; ENSG00000148985. [Q9UHJ9-2] # Ensembl ENST00000493547 ENSP00000431851; ENSG00000148985. [Q9UHJ9-4] # ExpressionAtlas Q9UHJ9 baseline and differential # FUNCTION PGAP2_HUMAN Involved in the lipid remodeling steps of GPI-anchor maturation. Required for stable expression of GPI-anchored proteins at the cell surface (By similarity). {ECO 0000250}. # GO_component GO:0000139 Golgi membrane; ISS:UniProtKB. # GO_component GO:0005634 nucleus; IEA:Ensembl. # GO_component GO:0005789 endoplasmic reticulum membrane; ISS:UniProtKB. # GO_component GO:0016021 integral component of membrane; TAS:ProtInc. # GO_function GO:0008565 protein transporter activity; ISS:UniProtKB. # GO_process GO:0006506 GPI anchor biosynthetic process; ISS:UniProtKB. # GO_process GO:0042770 signal transduction in response to DNA damage; IEA:Ensembl. # GO_process GO:0042771 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator; IEA:Ensembl. # GO_process GO:1902230 negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005634 nucleus # GOslim_function GO:0008565 protein transporter activity # GOslim_process GO:0006464 cellular protein modification process # GOslim_process GO:0006629 lipid metabolic process # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0009058 biosynthetic process # Genevisible Q9UHJ9 HS # HGNC HGNC:17893 PGAP2 # INTERACTION PGAP2_HUMAN P60411 KRTAP10-9; NbExp=3; IntAct=EBI-10321427, EBI-10172052; # IntAct Q9UHJ9 10 # InterPro IPR019402 Frag1/DRAM/Sfk1 # KEGG_Disease H01488 [Inherited metabolic disease] Mabry syndrome # KEGG_Disease H01489:[Inherited metabolic disease] Hyperphosphatasia with mental retardation syndrome (HPMRS) [DS H01488] # MIM 614207 phenotype # MIM 615187 gene # Organism PGAP2_HUMAN Homo sapiens (Human) # Orphanet 247262 Hyperphosphatasia-intellectual disability syndrome # PIR T12505 T12505 # Pfam PF10277 Frag1 # Proteomes UP000005640 Chromosome 11 # RecName PGAP2_HUMAN Post-GPI attachment to proteins factor 2 # RefSeq NP_001138910 NM_001145438.2. [Q9UHJ9-5] # RefSeq NP_001243164 NM_001256235.1 # RefSeq NP_001243165 NM_001256236.1 # RefSeq NP_001243166 NM_001256237.1 # RefSeq NP_001243167 NM_001256238.1. [Q9UHJ9-4] # RefSeq NP_001243168 NM_001256239.1. [Q9UHJ9-3] # RefSeq NP_001243169 NM_001256240.1. [Q9UHJ9-1] # RefSeq NP_001269967 NM_001283038.1 # RefSeq NP_001269968 NM_001283039.1 # RefSeq NP_001269969 NM_001283040.1 # RefSeq NP_055304 NM_014489.3. [Q9UHJ9-2] # RefSeq XP_006718253 XM_006718190.3. [Q9UHJ9-1] # RefSeq XP_006718254 XM_006718191.3. [Q9UHJ9-3] # RefSeq XP_011518303 XM_011520001.1. [Q9UHJ9-1] # RefSeq XP_011518304 XM_011520002.1. [Q9UHJ9-3] # RefSeq XP_011518305 XM_011520003.2. [Q9UHJ9-2] # RefSeq XP_011518306 XM_011520004.2. [Q9UHJ9-2] # SIMILARITY Belongs to the PGAP2 family. {ECO 0000305}. # SUBCELLULAR LOCATION PGAP2_HUMAN Golgi apparatus membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. Endoplasmic reticulum membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. # SUBUNIT Interacts with PGAP2IP. {ECO 0000250}. # TCDB 9.B.131.1 the post-gpi attachment protein (p-gap2) family # TISSUE SPECIFICITY Ubiquitously expressed, with highest levels in testis and pancreas. {ECO:0000269|PubMed 10585768}. # UCSC uc001lys human. [Q9UHJ9-1] # eggNOG ENOG410XT2T LUCA # eggNOG KOG3979 Eukaryota BLAST swissprot:PGAP2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:PGAP2_HUMAN COXPRESdb 27315 http://coxpresdb.jp/data/gene/27315.shtml DOI 10.1006/geno.1999.5980 http://dx.doi.org/10.1006/geno.1999.5980 DOI 10.1016/j.ajhg.2013.03.008 http://dx.doi.org/10.1016/j.ajhg.2013.03.008 DOI 10.1016/j.ajhg.2013.03.011 http://dx.doi.org/10.1016/j.ajhg.2013.03.011 DOI 10.1038/nature04632 http://dx.doi.org/10.1038/nature04632 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 EMBL AC090587 http://www.ebi.ac.uk/ena/data/view/AC090587 EMBL AF159615 http://www.ebi.ac.uk/ena/data/view/AF159615 EMBL AF159616 http://www.ebi.ac.uk/ena/data/view/AF159616 EMBL AF159617 http://www.ebi.ac.uk/ena/data/view/AF159617 EMBL AF159618 http://www.ebi.ac.uk/ena/data/view/AF159618 EMBL AF159619 http://www.ebi.ac.uk/ena/data/view/AF159619 EMBL AF159620 http://www.ebi.ac.uk/ena/data/view/AF159620 EMBL AF159621 http://www.ebi.ac.uk/ena/data/view/AF159621 EMBL AK292181 http://www.ebi.ac.uk/ena/data/view/AK292181 EMBL AL096753 http://www.ebi.ac.uk/ena/data/view/AL096753 EMBL AY373030 http://www.ebi.ac.uk/ena/data/view/AY373030 EMBL BC009930 http://www.ebi.ac.uk/ena/data/view/BC009930 EMBL BX379511 http://www.ebi.ac.uk/ena/data/view/BX379511 EMBL CH471158 http://www.ebi.ac.uk/ena/data/view/CH471158 EMBL CH471158 http://www.ebi.ac.uk/ena/data/view/CH471158 EMBL CH471158 http://www.ebi.ac.uk/ena/data/view/CH471158 Ensembl ENST00000278243 http://www.ensembl.org/id/ENST00000278243 Ensembl ENST00000300730 http://www.ensembl.org/id/ENST00000300730 Ensembl ENST00000463452 http://www.ensembl.org/id/ENST00000463452 Ensembl ENST00000464906 http://www.ensembl.org/id/ENST00000464906 Ensembl ENST00000493547 http://www.ensembl.org/id/ENST00000493547 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000139 GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005789 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005789 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GO_process GO:0006506 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006506 GO_process GO:0042770 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042770 GO_process GO:0042771 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042771 GO_process GO:1902230 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902230 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_process GO:0006464 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006464 GOslim_process GO:0006629 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006629 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GeneCards PGAP2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=PGAP2 GeneID 27315 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=27315 GeneTree ENSGT00510000047299 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00510000047299 H-InvDB HIX0009378 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0009378 HGNC HGNC:17893 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:17893 HOGENOM HOG000006821 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000006821&db=HOGENOM6 HOVERGEN HBG053417 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG053417&db=HOVERGEN HPA HPA063099 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA063099 InParanoid Q9UHJ9 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9UHJ9 IntAct Q9UHJ9 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9UHJ9* InterPro IPR019402 http://www.ebi.ac.uk/interpro/entry/IPR019402 Jabion 27315 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=27315 KEGG_Disease H01488 http://www.genome.jp/dbget-bin/www_bget?H01488 KEGG_Disease H01489 http://www.genome.jp/dbget-bin/www_bget?H01489 KEGG_Gene hsa:27315 http://www.genome.jp/dbget-bin/www_bget?hsa:27315 MIM 614207 http://www.ncbi.nlm.nih.gov/omim/614207 MIM 615187 http://www.ncbi.nlm.nih.gov/omim/615187 Orphanet 247262 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=247262 PSORT swissprot:PGAP2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:PGAP2_HUMAN PSORT-B swissprot:PGAP2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:PGAP2_HUMAN PSORT2 swissprot:PGAP2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:PGAP2_HUMAN Pfam PF10277 http://pfam.xfam.org/family/PF10277 PharmGKB PA165543520 http://www.pharmgkb.org/do/serve?objId=PA165543520&objCls=Gene Phobius swissprot:PGAP2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:PGAP2_HUMAN ProteinModelPortal Q9UHJ9 http://www.proteinmodelportal.org/query/uniprot/Q9UHJ9 PubMed 10585768 http://www.ncbi.nlm.nih.gov/pubmed/10585768 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16554811 http://www.ncbi.nlm.nih.gov/pubmed/16554811 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 PubMed 23561846 http://www.ncbi.nlm.nih.gov/pubmed/23561846 PubMed 23561847 http://www.ncbi.nlm.nih.gov/pubmed/23561847 RefSeq NP_001138910 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001138910 RefSeq NP_001243164 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001243164 RefSeq NP_001243165 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001243165 RefSeq NP_001243166 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001243166 RefSeq NP_001243167 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001243167 RefSeq NP_001243168 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001243168 RefSeq NP_001243169 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001243169 RefSeq NP_001269967 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001269967 RefSeq NP_001269968 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001269968 RefSeq NP_001269969 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001269969 RefSeq NP_055304 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_055304 RefSeq XP_006718253 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006718253 RefSeq XP_006718254 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006718254 RefSeq XP_011518303 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011518303 RefSeq XP_011518304 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011518304 RefSeq XP_011518305 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011518305 RefSeq XP_011518306 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011518306 STRING 9606.ENSP00000278243 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000278243&targetmode=cogs TCDB 9.B.131.1 http://www.tcdb.org/search/result.php?tc=9.B.131.1 UCSC uc001lys http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001lys&org=rat UniGene Hs.133968 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.133968 UniProtKB PGAP2_HUMAN http://www.uniprot.org/uniprot/PGAP2_HUMAN UniProtKB-AC Q9UHJ9 http://www.uniprot.org/uniprot/Q9UHJ9 charge swissprot:PGAP2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:PGAP2_HUMAN eggNOG ENOG410XT2T http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XT2T eggNOG KOG3979 http://eggnogapi.embl.de/nog_data/html/tree/KOG3979 epestfind swissprot:PGAP2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:PGAP2_HUMAN garnier swissprot:PGAP2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:PGAP2_HUMAN helixturnhelix swissprot:PGAP2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:PGAP2_HUMAN hmoment swissprot:PGAP2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:PGAP2_HUMAN iep swissprot:PGAP2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:PGAP2_HUMAN inforesidue swissprot:PGAP2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:PGAP2_HUMAN neXtProt NX_Q9UHJ9 http://www.nextprot.org/db/entry/NX_Q9UHJ9 octanol swissprot:PGAP2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:PGAP2_HUMAN pepcoil swissprot:PGAP2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:PGAP2_HUMAN pepdigest swissprot:PGAP2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:PGAP2_HUMAN pepinfo swissprot:PGAP2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:PGAP2_HUMAN pepnet swissprot:PGAP2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:PGAP2_HUMAN pepstats swissprot:PGAP2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:PGAP2_HUMAN pepwheel swissprot:PGAP2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:PGAP2_HUMAN pepwindow swissprot:PGAP2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:PGAP2_HUMAN sigcleave swissprot:PGAP2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:PGAP2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS GBRG3_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q99928-1; Sequence=Displayed; Name=2; IsoId=Q99928-2; Sequence=VSP_047543, VSP_047544; Note=No experimental confirmation available.; # AltName GBRG3_HUMAN GABA(A) receptor subunit gamma-3 # CCDS CCDS45195 -. [Q99928-1] # CCDS CCDS59251 -. [Q99928-2] # ChiTaRS GABRG3 human # DrugBank DB00186 Lorazepam # DrugBank DB00189 Ethchlorvynol # DrugBank DB00228 Enflurane # DrugBank DB00231 Temazepam # DrugBank DB00237 Butabarbital # DrugBank DB00241 Butalbital # DrugBank DB00273 Topiramate # DrugBank DB00292 Etomidate # DrugBank DB00306 Talbutal # DrugBank DB00312 Pentobarbital # DrugBank DB00334 Olanzapine # DrugBank DB00349 Clobazam # DrugBank DB00371 Meprobamate # DrugBank DB00402 Eszopiclone # DrugBank DB00404 Alprazolam # DrugBank DB00475 Chlordiazepoxide # DrugBank DB00543 Amoxapine # DrugBank DB00546 Adinazolam # DrugBank DB00628 Clorazepate # DrugBank DB00659 Acamprosate # DrugBank DB00683 Midazolam # DrugBank DB00690 Flurazepam # DrugBank DB00753 Isoflurane # DrugBank DB00794 Primidone # DrugBank DB00801 Halazepam # DrugBank DB00818 Propofol # DrugBank DB00829 Diazepam # DrugBank DB00842 Oxazepam # DrugBank DB00897 Triazolam # DrugBank DB00898 Ethanol # DrugBank DB01028 Methoxyflurane # DrugBank DB01049 Ergoloid mesylate # DrugBank DB01068 Clonazepam # DrugBank DB01107 Methyprylon # DrugBank DB01159 Halothane # DrugBank DB01189 Desflurane # DrugBank DB01205 Flumazenil # DrugBank DB01215 Estazolam # DrugBank DB01236 Sevoflurane # DrugBank DB01437 Glutethimide # DrugBank DB01558 Bromazepam # DrugBank DB01559 Clotiazepam # DrugBank DB01567 Fludiazepam # DrugBank DB01588 Prazepam # DrugBank DB01589 Quazepam # DrugBank DB01594 Cinolazepam # DrugBank DB01595 Nitrazepam # Ensembl ENST00000555083 ENSP00000452244; ENSG00000182256. [Q99928-2] # Ensembl ENST00000615808 ENSP00000479113; ENSG00000182256. [Q99928-1] # ExpressionAtlas Q99928 baseline and differential # FUNCTION GBRG3_HUMAN GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0034707 chloride channel complex; IEA:UniProtKB-KW. # GO_component GO:0045211 postsynaptic membrane; IEA:UniProtKB-SubCell. # GO_component GO:1902711 GABA-A receptor complex; IBA:GO_Central. # GO_function GO:0004890 GABA-A receptor activity; IEA:InterPro. # GO_function GO:0005230 extracellular ligand-gated ion channel activity; IEA:InterPro. # GO_function GO:0005254 chloride channel activity; IEA:UniProtKB-KW. # GO_process GO:0007214 gamma-aminobutyric acid signaling pathway; IEA:InterPro. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0055085 transmembrane transport # Gene3D 2.70.170.10 -; 1. # Genevisible Q99928 HS # HGNC HGNC:4088 GABRG3 # InterPro IPR005437 GABBAg_rcpt # InterPro IPR005440 GABBAg3_rcpt # InterPro IPR006028 GABAA/Glycine_rcpt # InterPro IPR006029 Neurotrans-gated_channel_TM # InterPro IPR006201 Neur_channel # InterPro IPR006202 Neur_chan_lig-bd # InterPro IPR018000 Neurotransmitter_ion_chnl_CS # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04080 Neuroactive ligand-receptor interaction # KEGG_Pathway ko04723 Retrograde endocannabinoid signaling # KEGG_Pathway ko04727 GABAergic synapse # KEGG_Pathway ko05032 Morphine addiction # KEGG_Pathway ko05033 Nicotine addiction # MIM 600233 gene # MISCELLANEOUS GBRG3_HUMAN This subunit carries the benzodiazepine binding site. # Organism GBRG3_HUMAN Homo sapiens (Human) # PANTHER PTHR18945 PTHR18945; 2 # PRINTS PR00252 NRIONCHANNEL # PRINTS PR00253 GABAARECEPTR # PRINTS PR01620 GABAARGAMMA # PRINTS PR01623 GABAARGAMMA3 # PROSITE PS00236 NEUROTR_ION_CHANNEL # PTM GBRG3_HUMAN May be palmitoylated. {ECO 0000250}. # Pfam PF02931 Neur_chan_LBD # Pfam PF02932 Neur_chan_memb # Proteomes UP000005640 Chromosome 15 # Reactome R-HSA-112314 Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell # Reactome R-HSA-975298 Ligand-gated ion channel transport # Reactome R-HSA-977441 GABA A receptor activation # RecName GBRG3_HUMAN Gamma-aminobutyric acid receptor subunit gamma-3 # RefSeq NP_001257802 NM_001270873.1. [Q99928-2] # RefSeq NP_150092 NM_033223.4. [Q99928-1] # SIMILARITY Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRG3 sub-subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION GBRG3_HUMAN Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. # SUBUNIT Generally pentameric. There are five types of GABA(A) receptor chains alpha, beta, gamma, delta, and rho. # SUPFAM SSF63712 SSF63712 # SUPFAM SSF90112 SSF90112 # TIGRFAMs TIGR00860 LIC # UCSC uc001zbf human. [Q99928-1] # WEB RESOURCE GBRG3_HUMAN Name=Protein Spotlight; Note=Forbidden fruit - Issue 56 of March 2005; URL="http //web.expasy.org/spotlight/back_issues/056"; # eggNOG ENOG410XNQG LUCA # eggNOG KOG3642 Eukaryota BLAST swissprot:GBRG3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:GBRG3_HUMAN BioCyc ZFISH:G66-32894-MONOMER http://biocyc.org/getid?id=ZFISH:G66-32894-MONOMER COXPRESdb 2567 http://coxpresdb.jp/data/gene/2567.shtml CleanEx HS_GABRG3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_GABRG3 DOI 10.1016/0922-4106(95)90070-5 http://dx.doi.org/10.1016/0922-4106(95)90070-5 DOI 10.1038/nature04601 http://dx.doi.org/10.1038/nature04601 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1136/jmedgenet-2015-103179 http://dx.doi.org/10.1136/jmedgenet-2015-103179 DrugBank DB00186 http://www.drugbank.ca/drugs/DB00186 DrugBank DB00189 http://www.drugbank.ca/drugs/DB00189 DrugBank DB00228 http://www.drugbank.ca/drugs/DB00228 DrugBank DB00231 http://www.drugbank.ca/drugs/DB00231 DrugBank DB00237 http://www.drugbank.ca/drugs/DB00237 DrugBank DB00241 http://www.drugbank.ca/drugs/DB00241 DrugBank DB00273 http://www.drugbank.ca/drugs/DB00273 DrugBank DB00292 http://www.drugbank.ca/drugs/DB00292 DrugBank DB00306 http://www.drugbank.ca/drugs/DB00306 DrugBank DB00312 http://www.drugbank.ca/drugs/DB00312 DrugBank DB00334 http://www.drugbank.ca/drugs/DB00334 DrugBank DB00349 http://www.drugbank.ca/drugs/DB00349 DrugBank DB00371 http://www.drugbank.ca/drugs/DB00371 DrugBank DB00402 http://www.drugbank.ca/drugs/DB00402 DrugBank DB00404 http://www.drugbank.ca/drugs/DB00404 DrugBank DB00475 http://www.drugbank.ca/drugs/DB00475 DrugBank DB00543 http://www.drugbank.ca/drugs/DB00543 DrugBank DB00546 http://www.drugbank.ca/drugs/DB00546 DrugBank DB00628 http://www.drugbank.ca/drugs/DB00628 DrugBank DB00659 http://www.drugbank.ca/drugs/DB00659 DrugBank DB00683 http://www.drugbank.ca/drugs/DB00683 DrugBank DB00690 http://www.drugbank.ca/drugs/DB00690 DrugBank DB00753 http://www.drugbank.ca/drugs/DB00753 DrugBank DB00794 http://www.drugbank.ca/drugs/DB00794 DrugBank DB00801 http://www.drugbank.ca/drugs/DB00801 DrugBank DB00818 http://www.drugbank.ca/drugs/DB00818 DrugBank DB00829 http://www.drugbank.ca/drugs/DB00829 DrugBank DB00842 http://www.drugbank.ca/drugs/DB00842 DrugBank DB00897 http://www.drugbank.ca/drugs/DB00897 DrugBank DB00898 http://www.drugbank.ca/drugs/DB00898 DrugBank DB01028 http://www.drugbank.ca/drugs/DB01028 DrugBank DB01049 http://www.drugbank.ca/drugs/DB01049 DrugBank DB01068 http://www.drugbank.ca/drugs/DB01068 DrugBank DB01107 http://www.drugbank.ca/drugs/DB01107 DrugBank DB01159 http://www.drugbank.ca/drugs/DB01159 DrugBank DB01189 http://www.drugbank.ca/drugs/DB01189 DrugBank DB01205 http://www.drugbank.ca/drugs/DB01205 DrugBank DB01215 http://www.drugbank.ca/drugs/DB01215 DrugBank DB01236 http://www.drugbank.ca/drugs/DB01236 DrugBank DB01437 http://www.drugbank.ca/drugs/DB01437 DrugBank DB01558 http://www.drugbank.ca/drugs/DB01558 DrugBank DB01559 http://www.drugbank.ca/drugs/DB01559 DrugBank DB01567 http://www.drugbank.ca/drugs/DB01567 DrugBank DB01588 http://www.drugbank.ca/drugs/DB01588 DrugBank DB01589 http://www.drugbank.ca/drugs/DB01589 DrugBank DB01594 http://www.drugbank.ca/drugs/DB01594 DrugBank DB01595 http://www.drugbank.ca/drugs/DB01595 EMBL AC104002 http://www.ebi.ac.uk/ena/data/view/AC104002 EMBL AC127511 http://www.ebi.ac.uk/ena/data/view/AC127511 EMBL AC135326 http://www.ebi.ac.uk/ena/data/view/AC135326 EMBL AC136896 http://www.ebi.ac.uk/ena/data/view/AC136896 EMBL AC144833 http://www.ebi.ac.uk/ena/data/view/AC144833 EMBL AC145436 http://www.ebi.ac.uk/ena/data/view/AC145436 EMBL AF269135 http://www.ebi.ac.uk/ena/data/view/AF269135 EMBL AF269136 http://www.ebi.ac.uk/ena/data/view/AF269136 EMBL AF269137 http://www.ebi.ac.uk/ena/data/view/AF269137 EMBL AF269138 http://www.ebi.ac.uk/ena/data/view/AF269138 EMBL AF269139 http://www.ebi.ac.uk/ena/data/view/AF269139 EMBL AF269140 http://www.ebi.ac.uk/ena/data/view/AF269140 EMBL AF269141 http://www.ebi.ac.uk/ena/data/view/AF269141 EMBL AF269142 http://www.ebi.ac.uk/ena/data/view/AF269142 EMBL AF269143 http://www.ebi.ac.uk/ena/data/view/AF269143 EMBL AF269144 http://www.ebi.ac.uk/ena/data/view/AF269144 EMBL AH009226 http://www.ebi.ac.uk/ena/data/view/AH009226 EMBL BC045709 http://www.ebi.ac.uk/ena/data/view/BC045709 EMBL CH471151 http://www.ebi.ac.uk/ena/data/view/CH471151 EMBL EU606049 http://www.ebi.ac.uk/ena/data/view/EU606049 EMBL S82769 http://www.ebi.ac.uk/ena/data/view/S82769 Ensembl ENST00000555083 http://www.ensembl.org/id/ENST00000555083 Ensembl ENST00000615808 http://www.ensembl.org/id/ENST00000615808 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0034707 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034707 GO_component GO:0045211 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045211 GO_component GO:1902711 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902711 GO_function GO:0004890 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004890 GO_function GO:0005230 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005230 GO_function GO:0005254 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005254 GO_process GO:0007214 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007214 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 2.70.170.10 http://www.cathdb.info/version/latest/superfamily/2.70.170.10 GeneCards GABRG3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=GABRG3 GeneID 2567 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=2567 GeneTree ENSGT00760000119010 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119010 H-InvDB HIX0026811 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0026811 HGNC HGNC:4088 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:4088 HOGENOM HOG000231337 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231337&db=HOGENOM6 HOVERGEN HBG051707 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG051707&db=HOVERGEN HPA HPA054010 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA054010 InParanoid Q99928 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q99928 InterPro IPR005437 http://www.ebi.ac.uk/interpro/entry/IPR005437 InterPro IPR005440 http://www.ebi.ac.uk/interpro/entry/IPR005440 InterPro IPR006028 http://www.ebi.ac.uk/interpro/entry/IPR006028 InterPro IPR006029 http://www.ebi.ac.uk/interpro/entry/IPR006029 InterPro IPR006201 http://www.ebi.ac.uk/interpro/entry/IPR006201 InterPro IPR006202 http://www.ebi.ac.uk/interpro/entry/IPR006202 InterPro IPR018000 http://www.ebi.ac.uk/interpro/entry/IPR018000 Jabion 2567 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=2567 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:2567 http://www.genome.jp/dbget-bin/www_bget?hsa:2567 KEGG_Orthology KO:K05186 http://www.genome.jp/dbget-bin/www_bget?KO:K05186 KEGG_Pathway ko04080 http://www.genome.jp/kegg-bin/show_pathway?ko04080 KEGG_Pathway ko04723 http://www.genome.jp/kegg-bin/show_pathway?ko04723 KEGG_Pathway ko04727 http://www.genome.jp/kegg-bin/show_pathway?ko04727 KEGG_Pathway ko05032 http://www.genome.jp/kegg-bin/show_pathway?ko05032 KEGG_Pathway ko05033 http://www.genome.jp/kegg-bin/show_pathway?ko05033 MIM 600233 http://www.ncbi.nlm.nih.gov/omim/600233 OMA MYWQDFE http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=MYWQDFE OrthoDB EOG091G0805 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0805 PANTHER PTHR18945 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR18945 PRINTS PR00252 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00252 PRINTS PR00253 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00253 PRINTS PR01620 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01620 PRINTS PR01623 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01623 PROSITE PS00236 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00236 PSORT swissprot:GBRG3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:GBRG3_HUMAN PSORT-B swissprot:GBRG3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:GBRG3_HUMAN PSORT2 swissprot:GBRG3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:GBRG3_HUMAN Pfam PF02931 http://pfam.xfam.org/family/PF02931 Pfam PF02932 http://pfam.xfam.org/family/PF02932 PharmGKB PA28502 http://www.pharmgkb.org/do/serve?objId=PA28502&objCls=Gene Phobius swissprot:GBRG3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:GBRG3_HUMAN PhylomeDB Q99928 http://phylomedb.org/?seqid=Q99928 ProteinModelPortal Q99928 http://www.proteinmodelportal.org/query/uniprot/Q99928 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16572171 http://www.ncbi.nlm.nih.gov/pubmed/16572171 PubMed 26566883 http://www.ncbi.nlm.nih.gov/pubmed/26566883 PubMed 8719414 http://www.ncbi.nlm.nih.gov/pubmed/8719414 Reactome R-HSA-112314 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-112314 Reactome R-HSA-975298 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-975298 Reactome R-HSA-977441 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-977441 RefSeq NP_001257802 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001257802 RefSeq NP_150092 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_150092 SMR Q99928 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q99928 STRING 9606.ENSP00000331912 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000331912&targetmode=cogs SUPFAM SSF63712 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF63712 SUPFAM SSF90112 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF90112 TIGRFAMs TIGR00860 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00860 UCSC uc001zbf http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001zbf&org=rat UniGene Hs.569475 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.569475 UniProtKB GBRG3_HUMAN http://www.uniprot.org/uniprot/GBRG3_HUMAN UniProtKB-AC Q99928 http://www.uniprot.org/uniprot/Q99928 charge swissprot:GBRG3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:GBRG3_HUMAN eggNOG ENOG410XNQG http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XNQG eggNOG KOG3642 http://eggnogapi.embl.de/nog_data/html/tree/KOG3642 epestfind swissprot:GBRG3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:GBRG3_HUMAN garnier swissprot:GBRG3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:GBRG3_HUMAN helixturnhelix swissprot:GBRG3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:GBRG3_HUMAN hmoment swissprot:GBRG3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:GBRG3_HUMAN iep swissprot:GBRG3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:GBRG3_HUMAN inforesidue swissprot:GBRG3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:GBRG3_HUMAN neXtProt NX_Q99928 http://www.nextprot.org/db/entry/NX_Q99928 octanol swissprot:GBRG3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:GBRG3_HUMAN pepcoil swissprot:GBRG3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:GBRG3_HUMAN pepdigest swissprot:GBRG3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:GBRG3_HUMAN pepinfo swissprot:GBRG3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:GBRG3_HUMAN pepnet swissprot:GBRG3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:GBRG3_HUMAN pepstats swissprot:GBRG3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:GBRG3_HUMAN pepwheel swissprot:GBRG3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:GBRG3_HUMAN pepwindow swissprot:GBRG3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:GBRG3_HUMAN sigcleave swissprot:GBRG3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:GBRG3_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS SCN2A_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=Adult, 6A; IsoId=Q99250-1; Sequence=Displayed; Name=2; Synonyms=Neonatal, 6N; IsoId=Q99250-2; Sequence=VSP_001032; # AltName SCN2A_HUMAN HBSC II # AltName SCN2A_HUMAN Sodium channel protein brain II subunit alpha # AltName SCN2A_HUMAN Sodium channel protein type II subunit alpha # AltName SCN2A_HUMAN Voltage-gated sodium channel subunit alpha Nav1.2 # CCDS CCDS33313 -. [Q99250-2] # CCDS CCDS33314 -. [Q99250-1] # ChiTaRS SCN2A human # DISEASE SCN2A_HUMAN Epileptic encephalopathy, early infantile, 11 (EIEE11) [MIM 613721] An autosomal dominant seizure disorder characterized by neonatal or infantile onset of refractory seizures with resultant delayed neurologic development and persistent neurologic abnormalities. Patients may progress to West syndrome, which is characterized by tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on EEG. {ECO 0000269|PubMed 19783390, ECO 0000269|PubMed 19786696, ECO 0000269|PubMed 20956790, ECO 0000269|PubMed 23550958, ECO 0000269|PubMed 23935176}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE SCN2A_HUMAN Seizures, benign familial infantile, 3 (BFIS3) [MIM 607745] A form of benign familial infantile epilepsy, a neurologic disorder characterized by afebrile seizures occurring in clusters during the first year of life, without neurologic sequelae. BFIS3 inheritance is autosomal dominant. {ECO 0000269|PubMed 11371648, ECO 0000269|PubMed 12243921, ECO 0000269|PubMed 15048894, ECO 0000269|PubMed 20371507, ECO 0000269|PubMed 22612257}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DOMAIN SCN2A_HUMAN The sequence contains 4 internal repeats, each with 5 hydrophobic segments (S1,S2,S3,S5,S6) and one positively charged segment (S4). Segments S4 are probably the voltage-sensors and are characterized by a series of positively charged amino acids at every third position. # DrugBank DB00313 Valproic Acid # DrugBank DB00555 Lamotrigine # DrugBank DB00818 Propofol # DrugBank DB00909 Zonisamide # Ensembl ENST00000283256 ENSP00000283256; ENSG00000136531. [Q99250-1] # Ensembl ENST00000375427 ENSP00000364576; ENSG00000136531. [Q99250-2] # Ensembl ENST00000375437 ENSP00000364586; ENSG00000136531. [Q99250-1] # Ensembl ENST00000631182 ENSP00000486885; ENSG00000136531. [Q99250-2] # Ensembl ENST00000636071 ENSP00000490107; ENSG00000136531. [Q99250-2] # Ensembl ENST00000637266 ENSP00000490866; ENSG00000136531. [Q99250-1] # ExpressionAtlas Q99250 baseline and differential # FUNCTION SCN2A_HUMAN Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient. {ECO 0000269|PubMed 1325650}. # GO_component GO:0001518 voltage-gated sodium channel complex; IEA:InterPro. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0030424 axon; TAS:BHF-UCL. # GO_component GO:0031226 intrinsic component of plasma membrane; ISS:UniProtKB. # GO_component GO:0033268 node of Ranvier; ISS:BHF-UCL. # GO_component GO:0034706 sodium channel complex; ISS:UniProtKB. # GO_function GO:0005248 voltage-gated sodium channel activity; ISS:UniProtKB. # GO_process GO:0006814 sodium ion transport; TAS:ProtInc. # GO_process GO:0019228 neuronal action potential; IBA:GO_Central. # GO_process GO:0035725 sodium ion transmembrane transport; ISS:UniProtKB. # GO_process GO:0042552 myelination; ISS:BHF-UCL. # GO_process GO:0086010 membrane depolarization during action potential; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.20.120.350 -; 4. # Genevisible Q99250 HS # HGNC HGNC:10588 SCN2A # IntAct Q99250 4 # InterPro IPR000048 IQ_motif_EF-hand-BS # InterPro IPR001696 Na_channel_asu # InterPro IPR005821 Ion_trans_dom # InterPro IPR010526 Na_trans_assoc # InterPro IPR024583 Na_trans_cytopl # InterPro IPR027359 Channel_four-helix_dom # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00606 [Congenital disorder; Epilepsy] Ohtahara syndrome # KEGG_Disease H00806 [Nervous system disease] Benign familial infantile epilepsy (BFIE) # MIM 182390 gene # MIM 607745 phenotype # MIM 613721 phenotype # Organism SCN2A_HUMAN Homo sapiens (Human) # Orphanet 140927 Benign familial neonatal-infantile seizures # Orphanet 1934 Early infantile epileptic encephalopathy # Orphanet 306 Benign familial infantile epilepsy # Orphanet 33069 Dravet syndrome # Orphanet 3451 West syndrome # Orphanet 36387 Generalized epilepsy with febrile seizures-plus # PDB 2KAV NMR; -; A=1777-1882 # PDB 4JPZ X-ray; 3.02 A; B/H=1777-1937 # PIR A46269 A46269 # PIR I59194 I59194 # PRINTS PR00170 NACHANNEL # PROSITE PS50096 IQ # PTM SCN2A_HUMAN May be ubiquitinated by NEDD4L; which would promote its endocytosis. {ECO 0000250}. # PTM SCN2A_HUMAN Phosphorylation at Ser-1506 by PKC in a highly conserved cytoplasmic loop slows inactivation of the sodium channel and reduces peak sodium currents. {ECO 0000250}. # Pfam PF00520 Ion_trans; 4 # Pfam PF06512 Na_trans_assoc # Pfam PF11933 Na_trans_cytopl # Proteomes UP000005640 Chromosome 2 # Reactome R-HSA-445095 Interaction between L1 and Ankyrins # Reactome R-HSA-5576892 Phase 0 - rapid depolarisation # RecName SCN2A_HUMAN Sodium channel protein type 2 subunit alpha # RefSeq NP_001035232 NM_001040142.1. [Q99250-1] # RefSeq NP_001035233 NM_001040143.1. [Q99250-2] # RefSeq NP_066287 NM_021007.2. [Q99250-1] # RefSeq XP_005246810 XM_005246753.3. [Q99250-2] # RefSeq XP_016860144 XM_017004655.1. [Q99250-1] # RefSeq XP_016860145 XM_017004656.1. [Q99250-1] # RefSeq XP_016860146 XM_017004657.1. [Q99250-2] # SEQUENCE CAUTION Sequence=CAA46438.1; Type=Frameshift; Positions=1953; Evidence={ECO:0000305}; Sequence=CAA46438.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the C-terminal part.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.2/SCN2A subfamily. {ECO 0000305}. # SIMILARITY Contains 1 IQ domain. {ECO:0000255|PROSITE- ProRule PRU00116}. # SMART SM00015 IQ # SUBCELLULAR LOCATION SCN2A_HUMAN Cell membrane {ECO 0000269|PubMed 1325650}; Multi-pass membrane protein {ECO 0000269|PubMed 1325650}. # SUBUNIT Interacts with NEDD4L. Interacts with CALM (By similarity). Heterooligomer of a large alpha subunit and a smaller beta subunit. Heterooligomer with SCN4B; disulfide-linked. {ECO:0000250, ECO 0000269|PubMed:24297919}. # TCDB 1.A.1.10.12 the voltage-gated ion channel (vic) superfamily # UCSC uc002udc human. [Q99250-1] # eggNOG COG1226 LUCA # eggNOG ENOG410INF8 Eukaryota BLAST swissprot:SCN2A_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SCN2A_HUMAN BioCyc ZFISH:ENSG00000136531-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000136531-MONOMER COXPRESdb 6326 http://coxpresdb.jp/data/gene/6326.shtml CleanEx HS_SCN2A http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SCN2A DOI 10.1002/ana.20029 http://dx.doi.org/10.1002/ana.20029 DOI 10.1016/0014-5793(92)80476-W http://dx.doi.org/10.1016/0014-5793(92)80476-W DOI 10.1016/S0140-6736(02)09968-3 http://dx.doi.org/10.1016/S0140-6736(02)09968-3 DOI 10.1016/S0378-1119(00)00594-1 http://dx.doi.org/10.1016/S0378-1119(00)00594-1 DOI 10.1016/j.braindev.2004.11.005 http://dx.doi.org/10.1016/j.braindev.2004.11.005 DOI 10.1016/j.braindev.2009.08.009 http://dx.doi.org/10.1016/j.braindev.2009.08.009 DOI 10.1016/j.eplepsyres.2015.08.001 http://dx.doi.org/10.1016/j.eplepsyres.2015.08.001 DOI 10.1016/j.pediatrneurol.2013.03.002 http://dx.doi.org/10.1016/j.pediatrneurol.2013.03.002 DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1038/sj.mp.4001241 http://dx.doi.org/10.1038/sj.mp.4001241 DOI 10.1073/pnas.111065098 http://dx.doi.org/10.1073/pnas.111065098 DOI 10.1073/pnas.1314557110 http://dx.doi.org/10.1073/pnas.1314557110 DOI 10.1073/pnas.88.2.335 http://dx.doi.org/10.1073/pnas.88.2.335 DOI 10.1073/pnas.89.17.8220 http://dx.doi.org/10.1073/pnas.89.17.8220 DOI 10.1093/brain/awq057 http://dx.doi.org/10.1093/brain/awq057 DOI 10.1111/epi.12137 http://dx.doi.org/10.1111/epi.12137 DOI 10.1111/j.1528-1167.2012.03516.x http://dx.doi.org/10.1111/j.1528-1167.2012.03516.x DOI 10.1212/WNL.0b013e3181b9cebc http://dx.doi.org/10.1212/WNL.0b013e3181b9cebc DOI 10.1212/WNL.0b013e3181f8812e http://dx.doi.org/10.1212/WNL.0b013e3181f8812e DOI 10.1212/WNL.0b013e3182a43e57 http://dx.doi.org/10.1212/WNL.0b013e3182a43e57 DrugBank DB00313 http://www.drugbank.ca/drugs/DB00313 DrugBank DB00555 http://www.drugbank.ca/drugs/DB00555 DrugBank DB00818 http://www.drugbank.ca/drugs/DB00818 DrugBank DB00909 http://www.drugbank.ca/drugs/DB00909 EMBL AC011303 http://www.ebi.ac.uk/ena/data/view/AC011303 EMBL AC013438 http://www.ebi.ac.uk/ena/data/view/AC013438 EMBL AF059683 http://www.ebi.ac.uk/ena/data/view/AF059683 EMBL AF327226 http://www.ebi.ac.uk/ena/data/view/AF327226 EMBL AF327226 http://www.ebi.ac.uk/ena/data/view/AF327226 EMBL AF327227 http://www.ebi.ac.uk/ena/data/view/AF327227 EMBL AF327227 http://www.ebi.ac.uk/ena/data/view/AF327227 EMBL AF327228 http://www.ebi.ac.uk/ena/data/view/AF327228 EMBL AF327228 http://www.ebi.ac.uk/ena/data/view/AF327228 EMBL AF327229 http://www.ebi.ac.uk/ena/data/view/AF327229 EMBL AF327229 http://www.ebi.ac.uk/ena/data/view/AF327229 EMBL AF327230 http://www.ebi.ac.uk/ena/data/view/AF327230 EMBL AF327230 http://www.ebi.ac.uk/ena/data/view/AF327230 EMBL AF327231 http://www.ebi.ac.uk/ena/data/view/AF327231 EMBL AF327231 http://www.ebi.ac.uk/ena/data/view/AF327231 EMBL AF327232 http://www.ebi.ac.uk/ena/data/view/AF327232 EMBL AF327232 http://www.ebi.ac.uk/ena/data/view/AF327232 EMBL AF327233 http://www.ebi.ac.uk/ena/data/view/AF327233 EMBL AF327233 http://www.ebi.ac.uk/ena/data/view/AF327233 EMBL AF327234 http://www.ebi.ac.uk/ena/data/view/AF327234 EMBL AF327234 http://www.ebi.ac.uk/ena/data/view/AF327234 EMBL AF327235 http://www.ebi.ac.uk/ena/data/view/AF327235 EMBL AF327235 http://www.ebi.ac.uk/ena/data/view/AF327235 EMBL AF327236 http://www.ebi.ac.uk/ena/data/view/AF327236 EMBL AF327236 http://www.ebi.ac.uk/ena/data/view/AF327236 EMBL AF327237 http://www.ebi.ac.uk/ena/data/view/AF327237 EMBL AF327237 http://www.ebi.ac.uk/ena/data/view/AF327237 EMBL AF327238 http://www.ebi.ac.uk/ena/data/view/AF327238 EMBL AF327238 http://www.ebi.ac.uk/ena/data/view/AF327238 EMBL AF327239 http://www.ebi.ac.uk/ena/data/view/AF327239 EMBL AF327239 http://www.ebi.ac.uk/ena/data/view/AF327239 EMBL AF327240 http://www.ebi.ac.uk/ena/data/view/AF327240 EMBL AF327240 http://www.ebi.ac.uk/ena/data/view/AF327240 EMBL AF327241 http://www.ebi.ac.uk/ena/data/view/AF327241 EMBL AF327241 http://www.ebi.ac.uk/ena/data/view/AF327241 EMBL AF327242 http://www.ebi.ac.uk/ena/data/view/AF327242 EMBL AF327242 http://www.ebi.ac.uk/ena/data/view/AF327242 EMBL AF327243 http://www.ebi.ac.uk/ena/data/view/AF327243 EMBL AF327243 http://www.ebi.ac.uk/ena/data/view/AF327243 EMBL AF327244 http://www.ebi.ac.uk/ena/data/view/AF327244 EMBL AF327244 http://www.ebi.ac.uk/ena/data/view/AF327244 EMBL AF327245 http://www.ebi.ac.uk/ena/data/view/AF327245 EMBL AF327245 http://www.ebi.ac.uk/ena/data/view/AF327245 EMBL AF327246 http://www.ebi.ac.uk/ena/data/view/AF327246 EMBL AF327246 http://www.ebi.ac.uk/ena/data/view/AF327246 EMBL M55662 http://www.ebi.ac.uk/ena/data/view/M55662 EMBL M91804 http://www.ebi.ac.uk/ena/data/view/M91804 EMBL M94055 http://www.ebi.ac.uk/ena/data/view/M94055 EMBL X65361 http://www.ebi.ac.uk/ena/data/view/X65361 Ensembl ENST00000283256 http://www.ensembl.org/id/ENST00000283256 Ensembl ENST00000375427 http://www.ensembl.org/id/ENST00000375427 Ensembl ENST00000375437 http://www.ensembl.org/id/ENST00000375437 Ensembl ENST00000631182 http://www.ensembl.org/id/ENST00000631182 Ensembl ENST00000636071 http://www.ensembl.org/id/ENST00000636071 Ensembl ENST00000637266 http://www.ensembl.org/id/ENST00000637266 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0001518 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001518 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0030424 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030424 GO_component GO:0031226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031226 GO_component GO:0033268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033268 GO_component GO:0034706 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034706 GO_function GO:0005248 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005248 GO_process GO:0006814 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006814 GO_process GO:0019228 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019228 GO_process GO:0035725 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035725 GO_process GO:0042552 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042552 GO_process GO:0086010 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086010 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.20.120.350 http://www.cathdb.info/version/latest/superfamily/1.20.120.350 GeneCards SCN2A http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SCN2A GeneID 6326 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6326 GeneTree ENSGT00830000128242 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00830000128242 H-InvDB HIX0029932 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0029932 HGNC HGNC:10588 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10588 HOVERGEN HBG053100 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG053100&db=HOVERGEN HPA CAB022567 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB022567 InParanoid Q99250 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q99250 IntAct Q99250 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q99250* InterPro IPR000048 http://www.ebi.ac.uk/interpro/entry/IPR000048 InterPro IPR001696 http://www.ebi.ac.uk/interpro/entry/IPR001696 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR010526 http://www.ebi.ac.uk/interpro/entry/IPR010526 InterPro IPR024583 http://www.ebi.ac.uk/interpro/entry/IPR024583 InterPro IPR027359 http://www.ebi.ac.uk/interpro/entry/IPR027359 Jabion 6326 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6326 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00606 http://www.genome.jp/dbget-bin/www_bget?H00606 KEGG_Disease H00806 http://www.genome.jp/dbget-bin/www_bget?H00806 KEGG_Gene hsa:6326 http://www.genome.jp/dbget-bin/www_bget?hsa:6326 KEGG_Orthology KO:K04834 http://www.genome.jp/dbget-bin/www_bget?KO:K04834 MIM 182390 http://www.ncbi.nlm.nih.gov/omim/182390 MIM 607745 http://www.ncbi.nlm.nih.gov/omim/607745 MIM 613721 http://www.ncbi.nlm.nih.gov/omim/613721 MINT MINT-1388751 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1388751 OMA DQTKEMD http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=DQTKEMD Orphanet 140927 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=140927 Orphanet 1934 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1934 Orphanet 306 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=306 Orphanet 33069 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=33069 Orphanet 3451 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=3451 Orphanet 36387 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=36387 OrthoDB EOG091G00FK http://cegg.unige.ch/orthodb/results?searchtext=EOG091G00FK PDB 2KAV http://www.ebi.ac.uk/pdbe-srv/view/entry/2KAV PDB 4JPZ http://www.ebi.ac.uk/pdbe-srv/view/entry/4JPZ PDBsum 2KAV http://www.ebi.ac.uk/pdbsum/2KAV PDBsum 4JPZ http://www.ebi.ac.uk/pdbsum/4JPZ PRINTS PR00170 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00170 PROSITE PS50096 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50096 PSORT swissprot:SCN2A_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SCN2A_HUMAN PSORT-B swissprot:SCN2A_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SCN2A_HUMAN PSORT2 swissprot:SCN2A_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SCN2A_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF06512 http://pfam.xfam.org/family/PF06512 Pfam PF11933 http://pfam.xfam.org/family/PF11933 PharmGKB PA35004 http://www.pharmgkb.org/do/serve?objId=PA35004&objCls=Gene Phobius swissprot:SCN2A_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SCN2A_HUMAN PhylomeDB Q99250 http://phylomedb.org/?seqid=Q99250 ProteinModelPortal Q99250 http://www.proteinmodelportal.org/query/uniprot/Q99250 PubMed 11245985 http://www.ncbi.nlm.nih.gov/pubmed/11245985 PubMed 11371648 http://www.ncbi.nlm.nih.gov/pubmed/11371648 PubMed 12243921 http://www.ncbi.nlm.nih.gov/pubmed/12243921 PubMed 12610651 http://www.ncbi.nlm.nih.gov/pubmed/12610651 PubMed 1317301 http://www.ncbi.nlm.nih.gov/pubmed/1317301 PubMed 1325650 http://www.ncbi.nlm.nih.gov/pubmed/1325650 PubMed 15048894 http://www.ncbi.nlm.nih.gov/pubmed/15048894 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 PubMed 16122630 http://www.ncbi.nlm.nih.gov/pubmed/16122630 PubMed 1846440 http://www.ncbi.nlm.nih.gov/pubmed/1846440 PubMed 19783390 http://www.ncbi.nlm.nih.gov/pubmed/19783390 PubMed 19786696 http://www.ncbi.nlm.nih.gov/pubmed/19786696 PubMed 20371507 http://www.ncbi.nlm.nih.gov/pubmed/20371507 PubMed 20956790 http://www.ncbi.nlm.nih.gov/pubmed/20956790 PubMed 22612257 http://www.ncbi.nlm.nih.gov/pubmed/22612257 PubMed 23550958 http://www.ncbi.nlm.nih.gov/pubmed/23550958 PubMed 23827426 http://www.ncbi.nlm.nih.gov/pubmed/23827426 PubMed 23935176 http://www.ncbi.nlm.nih.gov/pubmed/23935176 PubMed 24297919 http://www.ncbi.nlm.nih.gov/pubmed/24297919 PubMed 26311622 http://www.ncbi.nlm.nih.gov/pubmed/26311622 Reactome R-HSA-445095 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-445095 Reactome R-HSA-5576892 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576892 RefSeq NP_001035232 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001035232 RefSeq NP_001035233 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001035233 RefSeq NP_066287 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_066287 RefSeq XP_005246810 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005246810 RefSeq XP_016860144 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016860144 RefSeq XP_016860145 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016860145 RefSeq XP_016860146 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016860146 SMART SM00015 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00015 SMR Q99250 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q99250 STRING 9606.ENSP00000283256 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000283256&targetmode=cogs TCDB 1.A.1.10.12 http://www.tcdb.org/search/result.php?tc=1.A.1.10.12 UCSC uc002udc http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002udc&org=rat UniGene Hs.93485 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.93485 UniProtKB SCN2A_HUMAN http://www.uniprot.org/uniprot/SCN2A_HUMAN UniProtKB-AC Q99250 http://www.uniprot.org/uniprot/Q99250 charge swissprot:SCN2A_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SCN2A_HUMAN eggNOG COG1226 http://eggnogapi.embl.de/nog_data/html/tree/COG1226 eggNOG ENOG410INF8 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410INF8 epestfind swissprot:SCN2A_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SCN2A_HUMAN garnier swissprot:SCN2A_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SCN2A_HUMAN helixturnhelix swissprot:SCN2A_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SCN2A_HUMAN hmoment swissprot:SCN2A_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SCN2A_HUMAN iep swissprot:SCN2A_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SCN2A_HUMAN inforesidue swissprot:SCN2A_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SCN2A_HUMAN neXtProt NX_Q99250 http://www.nextprot.org/db/entry/NX_Q99250 octanol swissprot:SCN2A_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SCN2A_HUMAN pepcoil swissprot:SCN2A_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SCN2A_HUMAN pepdigest swissprot:SCN2A_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SCN2A_HUMAN pepinfo swissprot:SCN2A_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SCN2A_HUMAN pepnet swissprot:SCN2A_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SCN2A_HUMAN pepstats swissprot:SCN2A_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SCN2A_HUMAN pepwheel swissprot:SCN2A_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SCN2A_HUMAN pepwindow swissprot:SCN2A_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SCN2A_HUMAN sigcleave swissprot:SCN2A_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SCN2A_HUMAN ## Database ID URL or Descriptions # AltName TSCOT_HUMAN Solute carrier family 46 member 2 # Ensembl ENST00000374228 ENSP00000363345; ENSG00000119457 # ExpressionAtlas Q9BY10 baseline and differential # FUNCTION TSCOT_HUMAN May act as a transporter. {ECO 0000250}. # GO_component GO:0005886 plasma membrane; IEA:UniProtKB-SubCell. # GO_component GO:0009986 cell surface; IEA:Ensembl. # GO_component GO:0016021 integral component of membrane; NAS:UniProtKB. # GO_function GO:0015293 symporter activity; NAS:UniProtKB. # GO_process GO:0043029 T cell homeostasis; IEA:Ensembl. # GO_process GO:0045580 regulation of T cell differentiation; IEA:Ensembl. # GO_process GO:0048538 thymus development; IEA:Ensembl. # GO_process GO:0070233 negative regulation of T cell apoptotic process; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0002376 immune system process # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0048856 anatomical structure development # Genevisible Q9BY10 HS # HGNC HGNC:16055 SLC46A2 # InterPro IPR001958 Tet-R_TetA/multi-R_MdtG # InterPro IPR011701 MFS # InterPro IPR020846 MFS_dom # KEGG_Brite ko02000 Transporters # KEGG_Brite ko02001 Solute carrier family # MIM 608956 gene # Organism TSCOT_HUMAN Homo sapiens (Human) # PRINTS PR01035 TCRTETA # PTM TSCOT_HUMAN Glycosylated. {ECO 0000250}. # Pfam PF07690 MFS_1 # Proteomes UP000005640 Chromosome 9 # RecName TSCOT_HUMAN Thymic stromal cotransporter homolog # RefSeq NP_149040 NM_033051.3 # SIMILARITY Belongs to the major facilitator superfamily. SLC46A family. {ECO 0000305}. # SUBCELLULAR LOCATION TSCOT_HUMAN Cell membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. # SUPFAM SSF103473 SSF103473 # TCDB 2.A.1.50 the major facilitator superfamily (mfs) # TISSUE SPECIFICITY Strongly expressed in the adult thymus. Expressed in spleen, lymph nodes, thymus, PBL, bone marrow and fetal liver. {ECO:0000269|PubMed 10978518}. # UCSC uc004bgk human # eggNOG ENOG410ISYW Eukaryota # eggNOG ENOG410YS8M LUCA BLAST swissprot:TSCOT_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:TSCOT_HUMAN BioCyc ZFISH:ENSG00000119457-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000119457-MONOMER COXPRESdb 57864 http://coxpresdb.jp/data/gene/57864.shtml CleanEx HS_SLC46A2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC46A2 DOI 10.1016/S0167-4781(00)00177-9 http://dx.doi.org/10.1016/S0167-4781(00)00177-9 DOI 10.1038/nature02465 http://dx.doi.org/10.1038/nature02465 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AF242557 http://www.ebi.ac.uk/ena/data/view/AF242557 EMBL AK055571 http://www.ebi.ac.uk/ena/data/view/AK055571 EMBL AK314414 http://www.ebi.ac.uk/ena/data/view/AK314414 EMBL AL139041 http://www.ebi.ac.uk/ena/data/view/AL139041 EMBL BC048285 http://www.ebi.ac.uk/ena/data/view/BC048285 EMBL CH878453 http://www.ebi.ac.uk/ena/data/view/CH878453 Ensembl ENST00000374228 http://www.ensembl.org/id/ENST00000374228 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0009986 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009986 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0015293 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015293 GO_process GO:0043029 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043029 GO_process GO:0045580 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045580 GO_process GO:0048538 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048538 GO_process GO:0070233 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070233 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0002376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002376 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GeneCards SLC46A2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC46A2 GeneID 57864 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=57864 GeneTree ENSGT00530000063076 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000063076 HGNC HGNC:16055 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:16055 HOGENOM HOG000231710 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231710&db=HOGENOM6 HOVERGEN HBG054696 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG054696&db=HOVERGEN HPA HPA020098 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA020098 InParanoid Q9BY10 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9BY10 InterPro IPR001958 http://www.ebi.ac.uk/interpro/entry/IPR001958 InterPro IPR011701 http://www.ebi.ac.uk/interpro/entry/IPR011701 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 57864 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=57864 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:57864 http://www.genome.jp/dbget-bin/www_bget?hsa:57864 KEGG_Orthology KO:K14614 http://www.genome.jp/dbget-bin/www_bget?KO:K14614 MIM 608956 http://www.ncbi.nlm.nih.gov/omim/608956 OMA YAVGHPP http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=YAVGHPP OrthoDB EOG091G08MP http://cegg.unige.ch/orthodb/results?searchtext=EOG091G08MP PRINTS PR01035 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01035 PSORT swissprot:TSCOT_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:TSCOT_HUMAN PSORT-B swissprot:TSCOT_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:TSCOT_HUMAN PSORT2 swissprot:TSCOT_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:TSCOT_HUMAN Pfam PF07690 http://pfam.xfam.org/family/PF07690 PharmGKB PA162403790 http://www.pharmgkb.org/do/serve?objId=PA162403790&objCls=Gene Phobius swissprot:TSCOT_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:TSCOT_HUMAN PhylomeDB Q9BY10 http://phylomedb.org/?seqid=Q9BY10 ProteinModelPortal Q9BY10 http://www.proteinmodelportal.org/query/uniprot/Q9BY10 PubMed 10978518 http://www.ncbi.nlm.nih.gov/pubmed/10978518 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15164053 http://www.ncbi.nlm.nih.gov/pubmed/15164053 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 RefSeq NP_149040 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_149040 STRING 9606.ENSP00000363345 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000363345&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.1.50 http://www.tcdb.org/search/result.php?tc=2.A.1.50 UCSC uc004bgk http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc004bgk&org=rat UniGene Hs.512668 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.512668 UniProtKB TSCOT_HUMAN http://www.uniprot.org/uniprot/TSCOT_HUMAN UniProtKB-AC Q9BY10 http://www.uniprot.org/uniprot/Q9BY10 charge swissprot:TSCOT_HUMAN http://rest.g-language.org/emboss/charge/swissprot:TSCOT_HUMAN eggNOG ENOG410ISYW http://eggnogapi.embl.de/nog_data/html/tree/ENOG410ISYW eggNOG ENOG410YS8M http://eggnogapi.embl.de/nog_data/html/tree/ENOG410YS8M epestfind swissprot:TSCOT_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:TSCOT_HUMAN garnier swissprot:TSCOT_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:TSCOT_HUMAN helixturnhelix swissprot:TSCOT_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:TSCOT_HUMAN hmoment swissprot:TSCOT_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:TSCOT_HUMAN iep swissprot:TSCOT_HUMAN http://rest.g-language.org/emboss/iep/swissprot:TSCOT_HUMAN inforesidue swissprot:TSCOT_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:TSCOT_HUMAN neXtProt NX_Q9BY10 http://www.nextprot.org/db/entry/NX_Q9BY10 octanol swissprot:TSCOT_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:TSCOT_HUMAN pepcoil swissprot:TSCOT_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:TSCOT_HUMAN pepdigest swissprot:TSCOT_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:TSCOT_HUMAN pepinfo swissprot:TSCOT_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:TSCOT_HUMAN pepnet swissprot:TSCOT_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:TSCOT_HUMAN pepstats swissprot:TSCOT_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:TSCOT_HUMAN pepwheel swissprot:TSCOT_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:TSCOT_HUMAN pepwindow swissprot:TSCOT_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:TSCOT_HUMAN sigcleave swissprot:TSCOT_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:TSCOT_HUMAN ## Database ID URL or Descriptions # AltName CXA5_HUMAN Connexin-40 # BioGrid 108969 6 # ChiTaRS GJA5 human # DISEASE CXA5_HUMAN Atrial fibrillation, familial, 11 (ATFB11) [MIM 614049] A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. {ECO 0000269|PubMed 20650941}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE CXA5_HUMAN Atrial standstill 1 (ATRST1) [MIM 108770] A rare arrhythmia characterized by the absence of electrical and mechanical activity in the atria. Electrocardiographically, it is characterized by bradycardia, the absence of P waves, and a junctional narrow complex escape rhythm. {ECO 0000269|PubMed 16790700}. Note=The disease may be caused by mutations affecting distinct genetic loci, including the gene represented in this entry. A rare GJA5 genotype has been detected in combination with a mutation in SCN5A in a large family with atrial standstill. # Ensembl ENST00000579774 ENSP00000463851; ENSG00000265107 # Ensembl ENST00000621517 ENSP00000484552; ENSG00000265107 # ExpressionAtlas P36382 baseline and differential # FUNCTION CXA5_HUMAN One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell. # GO_component GO:0005887 integral component of plasma membrane; IDA:BHF-UCL. # GO_component GO:0005921 gap junction; IDA:BHF-UCL. # GO_component GO:0005922 connexin complex; IDA:BHF-UCL. # GO_component GO:0014704 intercalated disc; IDA:BHF-UCL. # GO_component GO:0042995 cell projection; IEA:Ensembl. # GO_function GO:0055077 gap junction hemi-channel activity; IDA:BHF-UCL. # GO_function GO:0086075 gap junction channel activity involved in cardiac conduction electrical coupling; IDA:BHF-UCL. # GO_function GO:0086077 gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling; IDA:BHF-UCL. # GO_process GO:0001501 skeletal system development; IEA:Ensembl. # GO_process GO:0001525 angiogenesis; IEP:UniProtKB. # GO_process GO:0003105 negative regulation of glomerular filtration; IEA:Ensembl. # GO_process GO:0003151 outflow tract morphogenesis; IMP:BHF-UCL. # GO_process GO:0003158 endothelium development; IEA:Ensembl. # GO_process GO:0003161 cardiac conduction system development; IEA:Ensembl. # GO_process GO:0003174 mitral valve development; IMP:BHF-UCL. # GO_process GO:0003193 pulmonary valve formation; IMP:BHF-UCL. # GO_process GO:0003281 ventricular septum development; IMP:BHF-UCL. # GO_process GO:0003283 atrial septum development; IMP:BHF-UCL. # GO_process GO:0003284 septum primum development; IEA:Ensembl. # GO_process GO:0003294 atrial ventricular junction remodeling; IEA:Ensembl. # GO_process GO:0006813 potassium ion transport; IEA:Ensembl. # GO_process GO:0010643 cell communication by chemical coupling; IEA:Ensembl. # GO_process GO:0010652 positive regulation of cell communication by chemical coupling; IEA:Ensembl. # GO_process GO:0016264 gap junction assembly; IDA:BHF-UCL. # GO_process GO:0030326 embryonic limb morphogenesis; IEA:Ensembl. # GO_process GO:0035050 embryonic heart tube development; IEA:Ensembl. # GO_process GO:0035922 foramen ovale closure; IEA:Ensembl. # GO_process GO:0045776 negative regulation of blood pressure; IEA:Ensembl. # GO_process GO:0045907 positive regulation of vasoconstriction; IEA:Ensembl. # GO_process GO:0045909 positive regulation of vasodilation; IEA:Ensembl. # GO_process GO:0048844 artery morphogenesis; ISS:BHF-UCL. # GO_process GO:0051259 protein oligomerization; IEA:Ensembl. # GO_process GO:0055117 regulation of cardiac muscle contraction; IMP:BHF-UCL. # GO_process GO:0060307 regulation of ventricular cardiac muscle cell membrane repolarization; IEA:Ensembl. # GO_process GO:0060371 regulation of atrial cardiac muscle cell membrane depolarization; IMP:BHF-UCL. # GO_process GO:0060373 regulation of ventricular cardiac muscle cell membrane depolarization; IEA:Ensembl. # GO_process GO:0060412 ventricular septum morphogenesis; IEA:Ensembl. # GO_process GO:0060413 atrial septum morphogenesis; IEA:Ensembl. # GO_process GO:0086005 ventricular cardiac muscle cell action potential; IEA:Ensembl. # GO_process GO:0086015 SA node cell action potential; IEA:Ensembl. # GO_process GO:0086053 AV node cell to bundle of His cell communication by electrical coupling; IMP:BHF-UCL. # GO_process GO:0086054 bundle of His cell to Purkinje myocyte communication by electrical coupling; IMP:BHF-UCL. # GO_process GO:0086064 cell communication by electrical coupling involved in cardiac conduction; IDA:BHF-UCL. # GO_process GO:0086091 regulation of heart rate by cardiac conduction; IEA:Ensembl. # GO_process GO:0098904 regulation of AV node cell action potential; IMP:BHF-UCL. # GO_process GO:0098905 regulation of bundle of His cell action potential; IMP:BHF-UCL. # GO_process GO:0098906 regulation of Purkinje myocyte action potential; IMP:BHF-UCL. # GO_process GO:0098910 regulation of atrial cardiac muscle cell action potential; IMP:BHF-UCL. # GO_process GO:1900133 regulation of renin secretion into blood stream; IEA:Ensembl. # GO_process GO:1900825 regulation of membrane depolarization during cardiac muscle cell action potential; IEA:Ensembl. # GO_process GO:1990029 vasomotion; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0043234 protein complex # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0003013 circulatory system process # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0022607 cellular component assembly # GOslim_process GO:0034330 cell junction organization # GOslim_process GO:0048646 anatomical structure formation involved in morphogenesis # GOslim_process GO:0048856 anatomical structure development # Genevisible P36382 HS # HGNC HGNC:4279 GJA5 # IntAct P36382 3 # InterPro IPR000500 Connexin # InterPro IPR002264 Connexin40 # InterPro IPR013092 Connexin_N # InterPro IPR017990 Connexin_CS # InterPro IPR019570 Connexin_CCC # InterPro IPR031862 Cx40_C # KEGG_Disease H00731 [Cardiovascular disease] Atrial fibrillation # MIM 108770 phenotype # MIM 121013 gene # MIM 614049 phenotype # Organism CXA5_HUMAN Homo sapiens (Human) # Orphanet 3303 Tetralogy of Fallot # Orphanet 334 Familial atrial fibrillation # PANTHER PTHR11984 PTHR11984 # PANTHER PTHR11984:SF13 PTHR11984:SF13 # PIR I38429 I38429 # PRINTS PR00206 CONNEXIN # PRINTS PR01135 CONNEXINA5 # PROSITE PS00407 CONNEXINS_1 # PROSITE PS00408 CONNEXINS_2 # Pfam PF00029 Connexin # Pfam PF16791 Connexin40_C # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-190861 Gap junction assembly # RecName CXA5_HUMAN Gap junction alpha-5 protein # RefSeq NP_005257 NM_005266.6 # RefSeq NP_859054 NM_181703.3 # RefSeq XP_005273008 XM_005272951.4 # RefSeq XP_016856533 XM_017001044.1 # SIMILARITY Belongs to the connexin family. Alpha-type (group II) subfamily. {ECO 0000305}. # SMART SM00037 CNX # SMART SM01089 Connexin_CCC # SUBCELLULAR LOCATION CXA5_HUMAN Cell membrane; Multi-pass membrane protein. Cell junction, gap junction. # SUBUNIT CXA5_HUMAN A connexon is composed of a hexamer of connexins. # UCSC uc057kfi human # eggNOG ENOG410IF3Z Eukaryota # eggNOG ENOG410ZC96 LUCA BLAST swissprot:CXA5_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CXA5_HUMAN BioCyc ZFISH:ENSG00000143140-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000143140-MONOMER COXPRESdb 2702 http://coxpresdb.jp/data/gene/2702.shtml CleanEx HS_GJA5 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_GJA5 DOI 10.1006/jmcc.1994.1103 http://dx.doi.org/10.1006/jmcc.1994.1103 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1053/euhj.1999.1718 http://dx.doi.org/10.1053/euhj.1999.1718 DOI 10.1056/NEJMoa052800 http://dx.doi.org/10.1056/NEJMoa052800 DOI 10.1093/europace/euq274 http://dx.doi.org/10.1093/europace/euq274 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AF151979 http://www.ebi.ac.uk/ena/data/view/AF151979 EMBL AL365260 http://www.ebi.ac.uk/ena/data/view/AL365260 EMBL AL365260 http://www.ebi.ac.uk/ena/data/view/AL365260 EMBL BC013313 http://www.ebi.ac.uk/ena/data/view/BC013313 EMBL BT019415 http://www.ebi.ac.uk/ena/data/view/BT019415 EMBL BT019416 http://www.ebi.ac.uk/ena/data/view/BT019416 EMBL L34954 http://www.ebi.ac.uk/ena/data/view/L34954 EMBL U03486 http://www.ebi.ac.uk/ena/data/view/U03486 Ensembl ENST00000579774 http://www.ensembl.org/id/ENST00000579774 Ensembl ENST00000621517 http://www.ensembl.org/id/ENST00000621517 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0005921 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005921 GO_component GO:0005922 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005922 GO_component GO:0014704 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014704 GO_component GO:0042995 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042995 GO_function GO:0055077 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055077 GO_function GO:0086075 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086075 GO_function GO:0086077 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086077 GO_process GO:0001501 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001501 GO_process GO:0001525 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001525 GO_process GO:0003105 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003105 GO_process GO:0003151 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003151 GO_process GO:0003158 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003158 GO_process GO:0003161 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003161 GO_process GO:0003174 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003174 GO_process GO:0003193 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003193 GO_process GO:0003281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003281 GO_process GO:0003283 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003283 GO_process GO:0003284 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003284 GO_process GO:0003294 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003294 GO_process GO:0006813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006813 GO_process GO:0010643 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010643 GO_process GO:0010652 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010652 GO_process GO:0016264 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016264 GO_process GO:0030326 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030326 GO_process GO:0035050 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035050 GO_process GO:0035922 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035922 GO_process GO:0045776 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045776 GO_process GO:0045907 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045907 GO_process GO:0045909 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045909 GO_process GO:0048844 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048844 GO_process GO:0051259 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051259 GO_process GO:0055117 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055117 GO_process GO:0060307 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060307 GO_process GO:0060371 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060371 GO_process GO:0060373 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060373 GO_process GO:0060412 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060412 GO_process GO:0060413 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060413 GO_process GO:0086005 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086005 GO_process GO:0086015 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086015 GO_process GO:0086053 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086053 GO_process GO:0086054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086054 GO_process GO:0086064 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086064 GO_process GO:0086091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086091 GO_process GO:0098904 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0098904 GO_process GO:0098905 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0098905 GO_process GO:0098906 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0098906 GO_process GO:0098910 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0098910 GO_process GO:1900133 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1900133 GO_process GO:1900825 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1900825 GO_process GO:1990029 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1990029 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0003013 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003013 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0022607 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022607 GOslim_process GO:0034330 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034330 GOslim_process GO:0048646 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048646 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GeneCards GJA5 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=GJA5 GeneID 2702 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=2702 GeneTree ENSGT00840000129674 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00840000129674 HGNC HGNC:4279 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:4279 HOGENOM HOG000231127 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231127&db=HOGENOM6 HOVERGEN HBG009576 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG009576&db=HOVERGEN HPA CAB013080 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB013080 InParanoid P36382 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P36382 IntAct P36382 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P36382* InterPro IPR000500 http://www.ebi.ac.uk/interpro/entry/IPR000500 InterPro IPR002264 http://www.ebi.ac.uk/interpro/entry/IPR002264 InterPro IPR013092 http://www.ebi.ac.uk/interpro/entry/IPR013092 InterPro IPR017990 http://www.ebi.ac.uk/interpro/entry/IPR017990 InterPro IPR019570 http://www.ebi.ac.uk/interpro/entry/IPR019570 InterPro IPR031862 http://www.ebi.ac.uk/interpro/entry/IPR031862 Jabion 2702 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=2702 KEGG_Disease H00731 http://www.genome.jp/dbget-bin/www_bget?H00731 KEGG_Gene hsa:2702 http://www.genome.jp/dbget-bin/www_bget?hsa:2702 KEGG_Orthology KO:K07614 http://www.genome.jp/dbget-bin/www_bget?KO:K07614 MIM 108770 http://www.ncbi.nlm.nih.gov/omim/108770 MIM 121013 http://www.ncbi.nlm.nih.gov/omim/121013 MIM 614049 http://www.ncbi.nlm.nih.gov/omim/614049 MINT MINT-1454178 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1454178 OMA HKHSTVI http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=HKHSTVI Orphanet 3303 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=3303 Orphanet 334 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=334 OrthoDB EOG091G0FKH http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0FKH PANTHER PTHR11984 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11984 PANTHER PTHR11984:SF13 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11984:SF13 PRINTS PR00206 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00206 PRINTS PR01135 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01135 PROSITE PS00407 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00407 PROSITE PS00408 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00408 PSORT swissprot:CXA5_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CXA5_HUMAN PSORT-B swissprot:CXA5_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CXA5_HUMAN PSORT2 swissprot:CXA5_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CXA5_HUMAN Pfam PF00029 http://pfam.xfam.org/family/PF00029 Pfam PF16791 http://pfam.xfam.org/family/PF16791 PharmGKB PA28690 http://www.pharmgkb.org/do/serve?objId=PA28690&objCls=Gene Phobius swissprot:CXA5_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CXA5_HUMAN PhylomeDB P36382 http://phylomedb.org/?seqid=P36382 ProteinModelPortal P36382 http://www.proteinmodelportal.org/query/uniprot/P36382 PubMed 10581143 http://www.ncbi.nlm.nih.gov/pubmed/10581143 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 16790700 http://www.ncbi.nlm.nih.gov/pubmed/16790700 PubMed 20650941 http://www.ncbi.nlm.nih.gov/pubmed/20650941 PubMed 7966354 http://www.ncbi.nlm.nih.gov/pubmed/7966354 Reactome R-HSA-190861 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-190861 RefSeq NP_005257 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_005257 RefSeq NP_859054 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_859054 RefSeq XP_005273008 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005273008 RefSeq XP_016856533 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016856533 SMART SM00037 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00037 SMART SM01089 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM01089 STRING 9606.ENSP00000271348 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000271348&targetmode=cogs UCSC uc057kfi http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc057kfi&org=rat UniGene Hs.447968 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.447968 UniProtKB CXA5_HUMAN http://www.uniprot.org/uniprot/CXA5_HUMAN UniProtKB-AC P36382 http://www.uniprot.org/uniprot/P36382 charge swissprot:CXA5_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CXA5_HUMAN eggNOG ENOG410IF3Z http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IF3Z eggNOG ENOG410ZC96 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410ZC96 epestfind swissprot:CXA5_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CXA5_HUMAN garnier swissprot:CXA5_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CXA5_HUMAN helixturnhelix swissprot:CXA5_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CXA5_HUMAN hmoment swissprot:CXA5_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CXA5_HUMAN iep swissprot:CXA5_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CXA5_HUMAN inforesidue swissprot:CXA5_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CXA5_HUMAN neXtProt NX_P36382 http://www.nextprot.org/db/entry/NX_P36382 octanol swissprot:CXA5_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CXA5_HUMAN pepcoil swissprot:CXA5_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CXA5_HUMAN pepdigest swissprot:CXA5_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CXA5_HUMAN pepinfo swissprot:CXA5_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CXA5_HUMAN pepnet swissprot:CXA5_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CXA5_HUMAN pepstats swissprot:CXA5_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CXA5_HUMAN pepwheel swissprot:CXA5_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CXA5_HUMAN pepwindow swissprot:CXA5_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CXA5_HUMAN sigcleave swissprot:CXA5_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CXA5_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS KCNQ2_HUMAN Event=Alternative splicing; Named isoforms=6; Comment=Additional isoforms seem to exist.; Name=1; IsoId=O43526-1; Sequence=Displayed; Name=2; IsoId=O43526-2; Sequence=VSP_000988; Name=3; IsoId=O43526-3; Sequence=VSP_000985, VSP_000988; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=4; IsoId=O43526-4; Sequence=VSP_000989, VSP_000990; Name=5; IsoId=O43526-5; Sequence=VSP_000984, VSP_000988; Name=6; Synonyms=HNSPC; IsoId=O43526-6; Sequence=VSP_000986, VSP_000987; # AltName KCNQ2_HUMAN KQT-like 2 # AltName KCNQ2_HUMAN Neuroblastoma-specific potassium channel subunit alpha KvLQT2 # AltName KCNQ2_HUMAN Voltage-gated potassium channel subunit Kv7.2 # BioGrid 109986 6 # CCDS CCDS13518 -. [O43526-3] # CCDS CCDS13519 -. [O43526-2] # CCDS CCDS13520 -. [O43526-1] # CCDS CCDS13521 -. [O43526-6] # CCDS CCDS46629 -. [O43526-4] # ChiTaRS KCNQ2 human # DISEASE KCNQ2_HUMAN Epileptic encephalopathy, early infantile, 7 (EIEE7) [MIM 613720] An autosomal dominant seizure disorder characterized by infantile onset of refractory seizures with resultant delayed neurologic development and persistent neurologic abnormalities. {ECO 0000269|PubMed 12742592, ECO 0000269|PubMed 15249611}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE KCNQ2_HUMAN Seizures, benign familial neonatal 1 (BFNS1) [MIM 121200] A disorder characterized by clusters of seizures occurring in the first days of life. Most patients have spontaneous remission by 12 months of age and show normal psychomotor development. Some rare cases manifest an atypical severe phenotype associated with epileptic encephalopathy and psychomotor retardation. The disorder is distinguished from benign familial infantile seizures by an earlier age at onset. In some patients, neonatal convulsions are followed later in life by myokymia, a benign condition characterized by spontaneous involuntary contractions of skeletal muscles fiber groups that can be observed as vermiform movement of the overlying skin. Electromyography typically shows continuous motor unit activity with spontaneous oligo- and multiplet-discharges of high intraburst frequency (myokymic discharges). Some patients may have isolated myokymia. {ECO 0000269|PubMed 11175290, ECO 0000269|PubMed 11572947, ECO 0000269|PubMed 14534157, ECO 0000269|PubMed 15249611, ECO 0000269|PubMed 9425895}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DOMAIN KCNQ2_HUMAN The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position. {ECO 0000250}. # DrugBank DB00321 Amitriptyline # DrugBank DB00586 Diclofenac # DrugBank DB00939 Meclofenamic acid # DrugBank DB04953 Ezogabine # Ensembl ENST00000344425 ENSP00000345523; ENSG00000075043. [O43526-6] # Ensembl ENST00000344462 ENSP00000339611; ENSG00000075043. [O43526-4] # Ensembl ENST00000359125 ENSP00000352035; ENSG00000075043. [O43526-1] # Ensembl ENST00000360480 ENSP00000353668; ENSG00000075043. [O43526-3] # Ensembl ENST00000626839 ENSP00000486706; ENSG00000075043. [O43526-2] # ExpressionAtlas O43526 baseline and differential # FUNCTION KCNQ2_HUMAN Probably important in the regulation of neuronal excitability. Associates with KCNQ3 to form a potassium channel with essentially identical properties to the channel underlying the native M-current, a slowly activating and deactivating potassium conductance which plays a critical role in determining the subthreshold electrical excitability of neurons as well as the responsiveness to synaptic inputs. KCNQ2/KCNQ3 current is blocked by linopirdine and XE991, and activated by the anticonvulsant retigabine. Muscarinic agonist oxotremorine-M strongly suppress KCNQ2/KCNQ3 current in cells in which cloned KCNQ2/KCNQ3 channels were coexpressed with M1 muscarinic receptors. # GO_component GO:0005886 plasma membrane; ISS:BHF-UCL. # GO_component GO:0008076 voltage-gated potassium channel complex; TAS:ProtInc. # GO_component GO:0033268 node of Ranvier; ISS:BHF-UCL. # GO_component GO:0043194 axon initial segment; ISS:BHF-UCL. # GO_function GO:0005249 voltage-gated potassium channel activity; TAS:ProtInc. # GO_function GO:0005251 delayed rectifier potassium channel activity; IBA:GO_Central. # GO_function GO:0005267 potassium channel activity; TAS:ProtInc. # GO_function GO:0030506 ankyrin binding; IPI:BHF-UCL. # GO_process GO:0006813 potassium ion transport; TAS:ProtInc. # GO_process GO:0007268 chemical synaptic transmission; TAS:ProtInc. # GO_process GO:0007399 nervous system development; TAS:ProtInc. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0008092 cytoskeletal protein binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0048856 anatomical structure development # Genevisible O43526 HS # HGNC HGNC:6296 KCNQ2 # InterPro IPR003937 K_chnl_volt-dep_KCNQ # InterPro IPR003947 K_chnl_volt-dep_KCNQ2 # InterPro IPR005821 Ion_trans_dom # InterPro IPR013821 K_chnl_volt-dep_KCNQ_C # InterPro IPR020969 Ankyrin-G_BS # InterPro IPR028325 VG_K_chnl # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00606 [Congenital disorder; Epilepsy] Ohtahara syndrome # KEGG_Disease H00806 [Nervous system disease] Benign familial infantile epilepsy (BFIE) # KEGG_Pathway ko04725 Cholinergic synapse # MIM 121200 phenotype # MIM 602235 gene # MIM 613720 phenotype # MISCELLANEOUS KCNQ2_HUMAN Inclusion of isoform 6 in heteromultimers results in attenuation of potassium current. Prominent expression of isoform 6 in the developing brain may alter firing repertoires of immature neurons excitability to provide cues for proliferation rather than differentiation. # MISCELLANEOUS Mutagenesis experiments were carried out in Xenopus oocytes by coexpression of either KCNQ2(mut) and KCNQ3 at the ratio of 1:1, or of KCNQ2(mut), KCNQ2(wt) and KCNQ3 at the ratio of 1 1:2, to mimic the situation in a heterozygous patient with BFNC1 disease. # Organism KCNQ2_HUMAN Homo sapiens (Human) # Orphanet 140927 Benign familial neonatal-infantile seizures # Orphanet 1934 Early infantile epileptic encephalopathy # Orphanet 1949 Benign familial neonatal seizures # Orphanet 306 Benign familial infantile epilepsy # PANTHER PTHR11537 PTHR11537; 4 # PDB 5J03 X-ray; 2.00 A; A=530-557 # PIR JC5275 JC5275 # PRINTS PR00169 KCHANNEL # PRINTS PR01459 KCNQCHANNEL # PRINTS PR01461 KCNQ2CHANNEL # PTM KCNQ2_HUMAN In Xenopus oocytes KCNQ2/KCNQ3 heteromeric current can be increased by intracellular cyclic AMP, an effect that depends on phosphorylation of Ser-52 in the N-terminal region. {ECO 0000269|PubMed 16319223, ECO 0000269|PubMed 9872318}. # Pfam PF00520 Ion_trans # Pfam PF03520 KCNQ_channel # Pfam PF11956 KCNQC3-Ank-G_bd # Proteomes UP000005640 Chromosome 20 # Reactome R-HSA-1296072 Voltage gated Potassium channels # Reactome R-HSA-445095 Interaction between L1 and Ankyrins # RecName KCNQ2_HUMAN Potassium voltage-gated channel subfamily KQT member 2 # RefSeq NP_004509 NM_004518.5. [O43526-3] # RefSeq NP_742104 NM_172106.2. [O43526-2] # RefSeq NP_742105 NM_172107.3. [O43526-1] # RefSeq NP_742106 NM_172108.4. [O43526-4] # RefSeq NP_742107 NM_172109.2. [O43526-6] # SIMILARITY Belongs to the potassium channel family. KQT (TC 1.A.1.15) subfamily. Kv7.2/KCNQ2 sub-subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION KCNQ2_HUMAN Membrane; Multi-pass membrane protein. # SUBUNIT KCNQ2_HUMAN Heteromultimer with KCNQ3. May associate with KCNE2. # TCDB 1.A.1.15 the voltage-gated ion channel (vic) superfamily # TISSUE SPECIFICITY In adult and fetal brain. Highly expressed in areas containing neuronal cell bodies, low in spinal chord and corpus callosum. Isoform 2 is preferentially expressed in differentiated neurons. Isoform 6 is prominent in fetal brain, undifferentiated neuroblastoma cells and brain tumors. {ECO:0000269|PubMed 10781098}. # UCSC uc002yey human. [O43526-1] # eggNOG COG1226 LUCA # eggNOG KOG1419 Eukaryota BLAST swissprot:KCNQ2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCNQ2_HUMAN BioCyc ZFISH:ENSG00000075043-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000075043-MONOMER COXPRESdb 3785 http://coxpresdb.jp/data/gene/3785.shtml CleanEx HS_KCNQ2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNQ2 DOI 10.1007/s004390050941 http://dx.doi.org/10.1007/s004390050941 DOI 10.1016/S0014-5793(00)01918-9 http://dx.doi.org/10.1016/S0014-5793(00)01918-9 DOI 10.1016/S0014-5793(98)01296-4 http://dx.doi.org/10.1016/S0014-5793(98)01296-4 DOI 10.1016/S0304-3940(00)00866-1 http://dx.doi.org/10.1016/S0304-3940(00)00866-1 DOI 10.1016/S0920-1211(03)00037-8 http://dx.doi.org/10.1016/S0920-1211(03)00037-8 DOI 10.1038/25367 http://dx.doi.org/10.1038/25367 DOI 10.1038/414865a http://dx.doi.org/10.1038/414865a DOI 10.1038/ng0198-25 http://dx.doi.org/10.1038/ng0198-25 DOI 10.1038/sj.ejhg.5200570 http://dx.doi.org/10.1038/sj.ejhg.5200570 DOI 10.1073/pnas.0509122102 http://dx.doi.org/10.1073/pnas.0509122102 DOI 10.1073/pnas.090092797 http://dx.doi.org/10.1073/pnas.090092797 DOI 10.1073/pnas.211431298 http://dx.doi.org/10.1073/pnas.211431298 DOI 10.1074/jbc.273.31.19419 http://dx.doi.org/10.1074/jbc.273.31.19419 DOI 10.1074/jbc.275.18.13343 http://dx.doi.org/10.1074/jbc.275.18.13343 DOI 10.1093/brain/awg286 http://dx.doi.org/10.1093/brain/awg286 DOI 10.1093/dnares/3.5.311 http://dx.doi.org/10.1093/dnares/3.5.311 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1469-7793.2000.t01-2-00349.x http://dx.doi.org/10.1111/j.1469-7793.2000.t01-2-00349.x DOI 10.1126/science.279.5349.403 http://dx.doi.org/10.1126/science.279.5349.403 DOI 10.1126/science.282.5395.1890 http://dx.doi.org/10.1126/science.282.5395.1890 DOI 10.1186/gb-2004-5-2-r8 http://dx.doi.org/10.1186/gb-2004-5-2-r8 DOI 10.1212/01.WNL.0000132979.08394.6D http://dx.doi.org/10.1212/01.WNL.0000132979.08394.6D DOI 10.1212/01.wnl.0000275523.95103.36 http://dx.doi.org/10.1212/01.wnl.0000275523.95103.36 DrugBank DB00321 http://www.drugbank.ca/drugs/DB00321 DrugBank DB00586 http://www.drugbank.ca/drugs/DB00586 DrugBank DB00939 http://www.drugbank.ca/drugs/DB00939 DrugBank DB04953 http://www.drugbank.ca/drugs/DB04953 EMBL AF033348 http://www.ebi.ac.uk/ena/data/view/AF033348 EMBL AF074247 http://www.ebi.ac.uk/ena/data/view/AF074247 EMBL AF110020 http://www.ebi.ac.uk/ena/data/view/AF110020 EMBL AL121827 http://www.ebi.ac.uk/ena/data/view/AL121827 EMBL AL121827 http://www.ebi.ac.uk/ena/data/view/AL121827 EMBL AL121827 http://www.ebi.ac.uk/ena/data/view/AL121827 EMBL AL121827 http://www.ebi.ac.uk/ena/data/view/AL121827 EMBL AL121827 http://www.ebi.ac.uk/ena/data/view/AL121827 EMBL AL121829 http://www.ebi.ac.uk/ena/data/view/AL121829 EMBL AL121829 http://www.ebi.ac.uk/ena/data/view/AL121829 EMBL AL121829 http://www.ebi.ac.uk/ena/data/view/AL121829 EMBL AL121829 http://www.ebi.ac.uk/ena/data/view/AL121829 EMBL AL121829 http://www.ebi.ac.uk/ena/data/view/AL121829 EMBL AL353658 http://www.ebi.ac.uk/ena/data/view/AL353658 EMBL AL353658 http://www.ebi.ac.uk/ena/data/view/AL353658 EMBL AL353658 http://www.ebi.ac.uk/ena/data/view/AL353658 EMBL AL353658 http://www.ebi.ac.uk/ena/data/view/AL353658 EMBL AL353658 http://www.ebi.ac.uk/ena/data/view/AL353658 EMBL BC000699 http://www.ebi.ac.uk/ena/data/view/BC000699 EMBL D82346 http://www.ebi.ac.uk/ena/data/view/D82346 EMBL Y15065 http://www.ebi.ac.uk/ena/data/view/Y15065 Ensembl ENST00000344425 http://www.ensembl.org/id/ENST00000344425 Ensembl ENST00000344462 http://www.ensembl.org/id/ENST00000344462 Ensembl ENST00000359125 http://www.ensembl.org/id/ENST00000359125 Ensembl ENST00000360480 http://www.ensembl.org/id/ENST00000360480 Ensembl ENST00000626839 http://www.ensembl.org/id/ENST00000626839 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0008076 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008076 GO_component GO:0033268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033268 GO_component GO:0043194 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043194 GO_function GO:0005249 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005249 GO_function GO:0005251 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005251 GO_function GO:0005267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005267 GO_function GO:0030506 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030506 GO_process GO:0006813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006813 GO_process GO:0007268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007268 GO_process GO:0007399 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007399 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0008092 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008092 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GeneCards KCNQ2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNQ2 GeneID 3785 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=3785 GeneTree ENSGT00550000074513 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074513 HGNC HGNC:6296 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6296 HOVERGEN HBG059014 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG059014&db=HOVERGEN HPA HPA016642 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA016642 HPA HPA057112 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA057112 InParanoid O43526 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O43526 IntAct O43526 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O43526* InterPro IPR003937 http://www.ebi.ac.uk/interpro/entry/IPR003937 InterPro IPR003947 http://www.ebi.ac.uk/interpro/entry/IPR003947 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR013821 http://www.ebi.ac.uk/interpro/entry/IPR013821 InterPro IPR020969 http://www.ebi.ac.uk/interpro/entry/IPR020969 InterPro IPR028325 http://www.ebi.ac.uk/interpro/entry/IPR028325 Jabion 3785 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=3785 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00606 http://www.genome.jp/dbget-bin/www_bget?H00606 KEGG_Disease H00806 http://www.genome.jp/dbget-bin/www_bget?H00806 KEGG_Gene hsa:3785 http://www.genome.jp/dbget-bin/www_bget?hsa:3785 KEGG_Orthology KO:K04927 http://www.genome.jp/dbget-bin/www_bget?KO:K04927 KEGG_Pathway ko04725 http://www.genome.jp/kegg-bin/show_pathway?ko04725 MIM 121200 http://www.ncbi.nlm.nih.gov/omim/121200 MIM 602235 http://www.ncbi.nlm.nih.gov/omim/602235 MIM 613720 http://www.ncbi.nlm.nih.gov/omim/613720 MINT MINT-8402812 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-8402812 OMA PRQGHGT http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=PRQGHGT Orphanet 140927 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=140927 Orphanet 1934 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1934 Orphanet 1949 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1949 Orphanet 306 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=306 OrthoDB EOG091G02ZT http://cegg.unige.ch/orthodb/results?searchtext=EOG091G02ZT PANTHER PTHR11537 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11537 PDB 5J03 http://www.ebi.ac.uk/pdbe-srv/view/entry/5J03 PDBsum 5J03 http://www.ebi.ac.uk/pdbsum/5J03 PRINTS PR00169 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00169 PRINTS PR01459 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01459 PRINTS PR01461 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01461 PSORT swissprot:KCNQ2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCNQ2_HUMAN PSORT-B swissprot:KCNQ2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCNQ2_HUMAN PSORT2 swissprot:KCNQ2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCNQ2_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF03520 http://pfam.xfam.org/family/PF03520 Pfam PF11956 http://pfam.xfam.org/family/PF11956 PharmGKB PA30074 http://www.pharmgkb.org/do/serve?objId=PA30074&objCls=Gene Phobius swissprot:KCNQ2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCNQ2_HUMAN PhylomeDB O43526 http://phylomedb.org/?seqid=O43526 ProteinModelPortal O43526 http://www.proteinmodelportal.org/query/uniprot/O43526 PubMed 10323247 http://www.ncbi.nlm.nih.gov/pubmed/10323247 PubMed 10479678 http://www.ncbi.nlm.nih.gov/pubmed/10479678 PubMed 10684873 http://www.ncbi.nlm.nih.gov/pubmed/10684873 PubMed 10713399 http://www.ncbi.nlm.nih.gov/pubmed/10713399 PubMed 10713961 http://www.ncbi.nlm.nih.gov/pubmed/10713961 PubMed 10781098 http://www.ncbi.nlm.nih.gov/pubmed/10781098 PubMed 10788442 http://www.ncbi.nlm.nih.gov/pubmed/10788442 PubMed 10908292 http://www.ncbi.nlm.nih.gov/pubmed/10908292 PubMed 10953053 http://www.ncbi.nlm.nih.gov/pubmed/10953053 PubMed 11034315 http://www.ncbi.nlm.nih.gov/pubmed/11034315 PubMed 11160379 http://www.ncbi.nlm.nih.gov/pubmed/11160379 PubMed 11175290 http://www.ncbi.nlm.nih.gov/pubmed/11175290 PubMed 11572947 http://www.ncbi.nlm.nih.gov/pubmed/11572947 PubMed 11780052 http://www.ncbi.nlm.nih.gov/pubmed/11780052 PubMed 12742592 http://www.ncbi.nlm.nih.gov/pubmed/12742592 PubMed 14534157 http://www.ncbi.nlm.nih.gov/pubmed/14534157 PubMed 14759258 http://www.ncbi.nlm.nih.gov/pubmed/14759258 PubMed 15249611 http://www.ncbi.nlm.nih.gov/pubmed/15249611 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16319223 http://www.ncbi.nlm.nih.gov/pubmed/16319223 PubMed 17872363 http://www.ncbi.nlm.nih.gov/pubmed/17872363 PubMed 9039501 http://www.ncbi.nlm.nih.gov/pubmed/9039501 PubMed 9425895 http://www.ncbi.nlm.nih.gov/pubmed/9425895 PubMed 9430594 http://www.ncbi.nlm.nih.gov/pubmed/9430594 PubMed 9677360 http://www.ncbi.nlm.nih.gov/pubmed/9677360 PubMed 9827540 http://www.ncbi.nlm.nih.gov/pubmed/9827540 PubMed 9836639 http://www.ncbi.nlm.nih.gov/pubmed/9836639 PubMed 9872318 http://www.ncbi.nlm.nih.gov/pubmed/9872318 Reactome R-HSA-1296072 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1296072 Reactome R-HSA-445095 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-445095 RefSeq NP_004509 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004509 RefSeq NP_742104 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_742104 RefSeq NP_742105 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_742105 RefSeq NP_742106 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_742106 RefSeq NP_742107 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_742107 STRING 9606.ENSP00000352035 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000352035&targetmode=cogs TCDB 1.A.1.15 http://www.tcdb.org/search/result.php?tc=1.A.1.15 UCSC uc002yey http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002yey&org=rat UniGene Hs.161851 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.161851 UniGene Hs.652468 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.652468 UniProtKB KCNQ2_HUMAN http://www.uniprot.org/uniprot/KCNQ2_HUMAN UniProtKB-AC O43526 http://www.uniprot.org/uniprot/O43526 charge swissprot:KCNQ2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCNQ2_HUMAN eggNOG COG1226 http://eggnogapi.embl.de/nog_data/html/tree/COG1226 eggNOG KOG1419 http://eggnogapi.embl.de/nog_data/html/tree/KOG1419 epestfind swissprot:KCNQ2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCNQ2_HUMAN garnier swissprot:KCNQ2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCNQ2_HUMAN helixturnhelix swissprot:KCNQ2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCNQ2_HUMAN hmoment swissprot:KCNQ2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCNQ2_HUMAN iep swissprot:KCNQ2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCNQ2_HUMAN inforesidue swissprot:KCNQ2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCNQ2_HUMAN neXtProt NX_O43526 http://www.nextprot.org/db/entry/NX_O43526 octanol swissprot:KCNQ2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCNQ2_HUMAN pepcoil swissprot:KCNQ2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCNQ2_HUMAN pepdigest swissprot:KCNQ2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCNQ2_HUMAN pepinfo swissprot:KCNQ2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCNQ2_HUMAN pepnet swissprot:KCNQ2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCNQ2_HUMAN pepstats swissprot:KCNQ2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCNQ2_HUMAN pepwheel swissprot:KCNQ2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCNQ2_HUMAN pepwindow swissprot:KCNQ2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCNQ2_HUMAN sigcleave swissprot:KCNQ2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCNQ2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS QCR9_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9UDW1-1; Sequence=Displayed; Name=2; IsoId=Q9UDW1-2; Sequence=VSP_041429; # AltName QCR9_HUMAN Complex III subunit 9 # AltName QCR9_HUMAN Complex III subunit X # AltName QCR9_HUMAN Cytochrome c1 non-heme 7 kDa protein # AltName QCR9_HUMAN Ubiquinol-cytochrome c reductase complex 7.2 kDa protein # BioGrid 118920 17 # CCDS CCDS46680 -. [Q9UDW1-1] # CCDS CCDS46681 -. [Q9UDW1-2] # ChiTaRS UQCR10 human # Ensembl ENST00000330029 ENSP00000332887; ENSG00000184076. [Q9UDW1-1] # Ensembl ENST00000401406 ENSP00000384962; ENSG00000184076. [Q9UDW1-2] # FUNCTION QCR9_HUMAN This is a component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex), which is part of the mitochondrial respiratory chain. This subunit interacts with cytochrome c1 (By similarity). {ECO 0000250}. # GO_component GO:0005743 mitochondrial inner membrane; TAS:Reactome. # GO_component GO:0005750 mitochondrial respiratory chain complex III; IBA:GO_Central. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0008121 ubiquinol-cytochrome-c reductase activity; NAS:UniProtKB. # GO_process GO:0006122 mitochondrial electron transport, ubiquinol to cytochrome c; NAS:UniProtKB. # GO_process GO:0009060 aerobic respiration; IBA:GO_Central. # GO_process GO:0034551 mitochondrial respiratory chain complex III assembly; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0043226 organelle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0016491 oxidoreductase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006091 generation of precursor metabolites and energy # GOslim_process GO:0006461 protein complex assembly # Gene3D 1.20.5.260 -; 1. # Genevisible Q9UDW1 HS # HGNC HGNC:30863 UQCR10 # IntAct Q9UDW1 7 # InterPro IPR008027 QCR9 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Pathway ko00190 Oxidative phosphorylation # KEGG_Pathway ko04260 Cardiac muscle contraction # KEGG_Pathway ko05010 Alzheimer's disease # KEGG_Pathway ko05012 Parkinson's disease # KEGG_Pathway ko05016 Huntington's disease # MIM 610843 gene # Organism QCR9_HUMAN Homo sapiens (Human) # PANTHER PTHR12980 PTHR12980 # Pfam PF05365 UCR_UQCRX_QCR9 # Proteomes UP000005640 Chromosome 22 # Reactome R-HSA-611105 Respiratory electron transport # RecName QCR9_HUMAN Cytochrome b-c1 complex subunit 9 # RefSeq NP_001003684 NM_001003684.1. [Q9UDW1-2] # RefSeq NP_037519 NM_013387.3. [Q9UDW1-1] # SIMILARITY Belongs to the UQCR10/QCR9 family. {ECO 0000305}. # SUBCELLULAR LOCATION QCR9_HUMAN Mitochondrion inner membrane {ECO 0000250}. # SUBUNIT The bc1 complex contains 11 subunits 3 respiratory subunits (cytochrome b, cytochrome c1 and Rieske/UQCRFS1), 2 core proteins (UQCRC1/QCR1 and UQCRC2/QCR2) and 6 low-molecular weight proteins (UQCRH/QCR6, UQCRB/QCR7, UQCRQ/QCR8, UQCR10/QCR9, UQCR11/QCR10 and a cleavage product of Rieske/UQCRFS1). # SUPFAM SSF81514 SSF81514 # TopDownProteomics Q9UDW1-1 -. [Q9UDW1-1] # TopDownProteomics Q9UDW1-2 -. [Q9UDW1-2] # UCSC uc003agp human. [Q9UDW1-1] # eggNOG ENOG410XUZE LUCA # eggNOG KOG3494 Eukaryota BLAST swissprot:QCR9_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:QCR9_HUMAN BioCyc ZFISH:HS15855-MONOMER http://biocyc.org/getid?id=ZFISH:HS15855-MONOMER COXPRESdb 29796 http://coxpresdb.jp/data/gene/29796.shtml DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1016/0076-6879(95)60132-5 http://dx.doi.org/10.1016/0076-6879(95)60132-5 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1038/990031 http://dx.doi.org/10.1038/990031 DOI 10.1101/gr.140200 http://dx.doi.org/10.1101/gr.140200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AB028598 http://www.ebi.ac.uk/ena/data/view/AB028598 EMBL AC004882 http://www.ebi.ac.uk/ena/data/view/AC004882 EMBL AF161468 http://www.ebi.ac.uk/ena/data/view/AF161468 EMBL BC005402 http://www.ebi.ac.uk/ena/data/view/BC005402 EMBL BC015971 http://www.ebi.ac.uk/ena/data/view/BC015971 Ensembl ENST00000330029 http://www.ensembl.org/id/ENST00000330029 Ensembl ENST00000401406 http://www.ensembl.org/id/ENST00000401406 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0005750 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005750 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0008121 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008121 GO_process GO:0006122 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006122 GO_process GO:0009060 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009060 GO_process GO:0034551 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034551 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0016491 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016491 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006091 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 Gene3D 1.20.5.260 http://www.cathdb.info/version/latest/superfamily/1.20.5.260 GeneCards UQCR10 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=UQCR10 GeneID 29796 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=29796 GeneTree ENSGT00390000014052 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000014052 HGNC HGNC:30863 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:30863 HOGENOM HOG000215187 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000215187&db=HOGENOM6 HOVERGEN HBG056661 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG056661&db=HOVERGEN InParanoid Q9UDW1 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9UDW1 IntAct Q9UDW1 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9UDW1* InterPro IPR008027 http://www.ebi.ac.uk/interpro/entry/IPR008027 Jabion 29796 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=29796 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00002 http://www.genome.jp/dbget-bin/www_bget?ko00002 KEGG_Gene hsa:29796 http://www.genome.jp/dbget-bin/www_bget?hsa:29796 KEGG_Orthology KO:K00419 http://www.genome.jp/dbget-bin/www_bget?KO:K00419 KEGG_Pathway ko00190 http://www.genome.jp/kegg-bin/show_pathway?ko00190 KEGG_Pathway ko04260 http://www.genome.jp/kegg-bin/show_pathway?ko04260 KEGG_Pathway ko05010 http://www.genome.jp/kegg-bin/show_pathway?ko05010 KEGG_Pathway ko05012 http://www.genome.jp/kegg-bin/show_pathway?ko05012 KEGG_Pathway ko05016 http://www.genome.jp/kegg-bin/show_pathway?ko05016 MIM 610843 http://www.ncbi.nlm.nih.gov/omim/610843 OMA HITEGEW http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=HITEGEW PANTHER PTHR12980 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12980 PSORT swissprot:QCR9_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:QCR9_HUMAN PSORT-B swissprot:QCR9_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:QCR9_HUMAN PSORT2 swissprot:QCR9_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:QCR9_HUMAN Pfam PF05365 http://pfam.xfam.org/family/PF05365 PharmGKB PA165378374 http://www.pharmgkb.org/do/serve?objId=PA165378374&objCls=Gene Phobius swissprot:QCR9_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:QCR9_HUMAN PhylomeDB Q9UDW1 http://phylomedb.org/?seqid=Q9UDW1 ProteinModelPortal Q9UDW1 http://www.proteinmodelportal.org/query/uniprot/Q9UDW1 PubMed 10591208 http://www.ncbi.nlm.nih.gov/pubmed/10591208 PubMed 11042152 http://www.ncbi.nlm.nih.gov/pubmed/11042152 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 8592474 http://www.ncbi.nlm.nih.gov/pubmed/8592474 Reactome R-HSA-611105 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-611105 RefSeq NP_001003684 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001003684 RefSeq NP_037519 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_037519 SMR Q9UDW1 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9UDW1 STRING 9606.ENSP00000332887 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000332887&targetmode=cogs SUPFAM SSF81514 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81514 UCSC uc003agp http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003agp&org=rat UniGene Hs.284292 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.284292 UniProtKB QCR9_HUMAN http://www.uniprot.org/uniprot/QCR9_HUMAN UniProtKB-AC Q9UDW1 http://www.uniprot.org/uniprot/Q9UDW1 charge swissprot:QCR9_HUMAN http://rest.g-language.org/emboss/charge/swissprot:QCR9_HUMAN eggNOG ENOG410XUZE http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XUZE eggNOG KOG3494 http://eggnogapi.embl.de/nog_data/html/tree/KOG3494 epestfind swissprot:QCR9_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:QCR9_HUMAN garnier swissprot:QCR9_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:QCR9_HUMAN helixturnhelix swissprot:QCR9_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:QCR9_HUMAN hmoment swissprot:QCR9_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:QCR9_HUMAN iep swissprot:QCR9_HUMAN http://rest.g-language.org/emboss/iep/swissprot:QCR9_HUMAN inforesidue swissprot:QCR9_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:QCR9_HUMAN neXtProt NX_Q9UDW1 http://www.nextprot.org/db/entry/NX_Q9UDW1 octanol swissprot:QCR9_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:QCR9_HUMAN pepcoil swissprot:QCR9_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:QCR9_HUMAN pepdigest swissprot:QCR9_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:QCR9_HUMAN pepinfo swissprot:QCR9_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:QCR9_HUMAN pepnet swissprot:QCR9_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:QCR9_HUMAN pepstats swissprot:QCR9_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:QCR9_HUMAN pepwheel swissprot:QCR9_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:QCR9_HUMAN pepwindow swissprot:QCR9_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:QCR9_HUMAN sigcleave swissprot:QCR9_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:QCR9_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS TRPM8_HUMAN Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q7Z2W7-1; Sequence=Displayed; Name=2; Synonyms=sTRPM8-18, sM8-18; IsoId=Q7Z2W7-2; Sequence=VSP_053268, VSP_012332, VSP_012333; Name=3; Synonyms=sTRPM8-6, sM8-6; IsoId=Q7Z2W7-3; Sequence=VSP_012330, VSP_012332, VSP_012333; Name=4; IsoId=Q7Z2W7-4; Sequence=VSP_054505, VSP_054506, VSP_054507; Note=No experimental confirmation available.; # AltName TRPM8_HUMAN Long transient receptor potential channel 6 # AltName TRPM8_HUMAN Transient receptor potential p8 # BioGrid 122512 11 # CAUTION The 192-residue sequence submitted as AAS45276 has been confirmed by the authors of PubMed:22128173 to be incorrect as translation starts from a downstream methionine. {ECO 0000305}. # CCDS CCDS33407 -. [Q7Z2W7-1] # DOMAIN TRPM8_HUMAN The coiled coil region is required for multimerization. {ECO 0000269|PubMed 17065148, ECO 0000269|PubMed 25559186}. # DrugBank DB00825 Menthol # Ensembl ENST00000324695 ENSP00000323926; ENSG00000144481. [Q7Z2W7-1] # Ensembl ENST00000409625 ENSP00000386771; ENSG00000144481. [Q7Z2W7-3] # ExpressionAtlas Q7Z2W7 baseline and differential # FUNCTION TRPM8_HUMAN Receptor-activated non-selective cation channel involved in detection of sensations such as coolness, by being activated by cold temperature below 25 degrees Celsius. Activated by icilin, eucalyptol, menthol, cold and modulation of intracellular pH. Involved in menthol sensation. Permeable for monovalent cations sodium, potassium, and cesium and divalent cation calcium. Temperature sensing is tightly linked to voltage-dependent gating. Activated upon depolarization, changes in temperature resulting in graded shifts of its voltage-dependent activation curves. The chemical agonist menthol functions as a gating modifier, shifting activation curves towards physiological membrane potentials. Temperature sensitivity arises from a tenfold difference in the activation energies associated with voltage-dependent opening and closing. In prostate cancer cells, shows strong inward rectification and high calcium selectivity in contrast to its behavior in normal cells which is characterized by outward rectification and poor cationic selectivity. Plays a role in prostate cancer cell migration (PubMed 25559186). Isoform 2 and isoform 3 negatively regulate menthol- and cold-induced channel activity by stabilizing the closed state of the channel. {ECO 0000269|PubMed 15306801, ECO 0000269|PubMed 16174775, ECO 0000269|PubMed 22128173, ECO 0000269|PubMed 25559186}. # GO_component GO:0005789 endoplasmic reticulum membrane; IEA:UniProtKB-SubCell. # GO_component GO:0005886 plasma membrane; IDA:MGI. # GO_component GO:0009897 external side of plasma membrane; IEA:Ensembl. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0045121 membrane raft; IEA:UniProtKB-SubCell. # GO_function GO:0005262 calcium channel activity; TAS:Reactome. # GO_process GO:0006874 cellular calcium ion homeostasis; IEA:Ensembl. # GO_process GO:0009409 response to cold; IEA:Ensembl. # GO_process GO:0016048 detection of temperature stimulus; IEA:InterPro. # GO_process GO:0050955 thermoception; IEA:Ensembl. # GO_process GO:0051289 protein homotetramerization; IEA:Ensembl. # GO_process GO:0070207 protein homotrimerization; IEA:Ensembl. # GO_process GO:0070588 calcium ion transmembrane transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006950 response to stress # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0050877 neurological system process # GOslim_process GO:0055085 transmembrane transport # Genevisible Q7Z2W7 HS # HGNC HGNC:17961 TRPM8 # InterPro IPR005821 Ion_trans_dom # InterPro IPR029603 TRPM8 # KEGG_Brite ko04040 Ion channels # MIM 606678 gene # MISCELLANEOUS TRPM8_HUMAN Its expression in most prostate tumors as well as the presence of an immunogenic epitope suggest that it may be suitable for the design of peptide vaccination strategies for prostate cancers. # MISCELLANEOUS TRPM8_HUMAN The sensation of coolness triggered by eucalyptol or menthol may be explained by the fact that menthol and cool temperatures sensations are detected by this protein. # Organism TRPM8_HUMAN Homo sapiens (Human) # PANTHER PTHR13800:SF9 PTHR13800:SF9 # Pfam PF00520 Ion_trans # Proteomes UP000005640 Chromosome 2 # Reactome R-HSA-3295583 TRP channels # RecName TRPM8_HUMAN Transient receptor potential cation channel subfamily M member 8 # RefSeq NP_076985 NM_024080.4. [Q7Z2W7-1] # SEQUENCE CAUTION Sequence=AAH01135.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAS45276.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the transient receptor (TC 1.A.4) family. LTrpC subfamily. TRPM8 sub-subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION TRPM8_HUMAN Cell membrane; Multi-pass membrane protein. Membrane raft. Endoplasmic reticulum membrane. Note=Localizes to membrane rafts but is also located in the cell membrane outside of these regions where channel response to cold is enhanced compared to membrane rafts (By similarity). Located in the endoplasmic reticulum in prostate cancer cells. {ECO 0000250}. # SUBUNIT TRPM8_HUMAN Homotetramer (By similarity). Isoform 2 and isoform 3 interact with the C-terminus of isoform 1 in a thermosensitive manner with decreased interaction at 21 degrees Celsius compared to 37 degrees Celsius. Interacts (via N-terminus and C-terminus domains) with TCAF1; the interaction stimulates TRPM8 channel activity (PubMed 25559186). Interacts (via N-terminus and C- terminus domains) with TCAF2 isoform 2; the interaction inhibits TRPM8 channel activity (PubMed 25559186). {ECO 0000250, ECO 0000269|PubMed 22128173, ECO 0000269|PubMed 25559186}. # TCDB 1.A.4.5 the transient receptor potential ca(2+) channel (trp-cc) family # TISSUE SPECIFICITY TRPM8_HUMAN Expressed in prostate. Also expressed in prostate tumors and in non-prostatic primary tumors such as colon, lung, breast and skin tumors. {ECO 0000269|PubMed 11325849, ECO 0000269|PubMed 12858355, ECO 0000269|PubMed 16174775, ECO 0000269|PubMed 22128173}. # UCSC uc002vvi human. [Q7Z2W7-1] # eggNOG ENOG410INBX Eukaryota # eggNOG ENOG4110YBY LUCA BLAST swissprot:TRPM8_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:TRPM8_HUMAN COXPRESdb 79054 http://coxpresdb.jp/data/gene/79054.shtml CleanEx HS_TRPM8 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_TRPM8 DOI 10.1002/pros.10265 http://dx.doi.org/10.1002/pros.10265 DOI 10.1038/nature02732 http://dx.doi.org/10.1038/nature02732 DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1074/jbc.M111.270256 http://dx.doi.org/10.1074/jbc.M111.270256 DOI 10.1074/jbc.M503544200 http://dx.doi.org/10.1074/jbc.M503544200 DOI 10.1074/jbc.M607756200 http://dx.doi.org/10.1074/jbc.M607756200 DOI 10.1083/jcb.201402076 http://dx.doi.org/10.1083/jcb.201402076 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DrugBank DB00825 http://www.drugbank.ca/drugs/DB00825 EMBL AB061779 http://www.ebi.ac.uk/ena/data/view/AB061779 EMBL AC005538 http://www.ebi.ac.uk/ena/data/view/AC005538 EMBL AY090109 http://www.ebi.ac.uk/ena/data/view/AY090109 EMBL AY328400 http://www.ebi.ac.uk/ena/data/view/AY328400 EMBL AY532375 http://www.ebi.ac.uk/ena/data/view/AY532375 EMBL AY532376 http://www.ebi.ac.uk/ena/data/view/AY532376 EMBL BC001135 http://www.ebi.ac.uk/ena/data/view/BC001135 EMBL BC126342 http://www.ebi.ac.uk/ena/data/view/BC126342 EMBL CH471063 http://www.ebi.ac.uk/ena/data/view/CH471063 EMBL DQ139309 http://www.ebi.ac.uk/ena/data/view/DQ139309 Ensembl ENST00000324695 http://www.ensembl.org/id/ENST00000324695 Ensembl ENST00000409625 http://www.ensembl.org/id/ENST00000409625 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005789 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005789 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0009897 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009897 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0045121 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045121 GO_function GO:0005262 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005262 GO_process GO:0006874 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006874 GO_process GO:0009409 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009409 GO_process GO:0016048 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016048 GO_process GO:0050955 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050955 GO_process GO:0051289 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051289 GO_process GO:0070207 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070207 GO_process GO:0070588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070588 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards TRPM8 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=TRPM8 GeneID 79054 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=79054 GeneTree ENSGT00760000119127 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119127 HGNC HGNC:17961 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:17961 HOGENOM HOG000236350 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000236350&db=HOGENOM6 HOVERGEN HBG100888 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG100888&db=HOVERGEN InParanoid Q7Z2W7 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q7Z2W7 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR029603 http://www.ebi.ac.uk/interpro/entry/IPR029603 Jabion 79054 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=79054 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:79054 http://www.genome.jp/dbget-bin/www_bget?hsa:79054 KEGG_Orthology KO:K04983 http://www.genome.jp/dbget-bin/www_bget?KO:K04983 MIM 606678 http://www.ncbi.nlm.nih.gov/omim/606678 OMA YIMDDFT http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=YIMDDFT OrthoDB EOG091G035A http://cegg.unige.ch/orthodb/results?searchtext=EOG091G035A PANTHER PTHR13800:SF9 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR13800:SF9 PSORT swissprot:TRPM8_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:TRPM8_HUMAN PSORT-B swissprot:TRPM8_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:TRPM8_HUMAN PSORT2 swissprot:TRPM8_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:TRPM8_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 PharmGKB PA38270 http://www.pharmgkb.org/do/serve?objId=PA38270&objCls=Gene Phobius swissprot:TRPM8_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:TRPM8_HUMAN PhylomeDB Q7Z2W7 http://phylomedb.org/?seqid=Q7Z2W7 ProteinModelPortal Q7Z2W7 http://www.proteinmodelportal.org/query/uniprot/Q7Z2W7 PubMed 11325849 http://www.ncbi.nlm.nih.gov/pubmed/11325849 PubMed 12858355 http://www.ncbi.nlm.nih.gov/pubmed/12858355 PubMed 15306801 http://www.ncbi.nlm.nih.gov/pubmed/15306801 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 PubMed 16174775 http://www.ncbi.nlm.nih.gov/pubmed/16174775 PubMed 17065148 http://www.ncbi.nlm.nih.gov/pubmed/17065148 PubMed 22128173 http://www.ncbi.nlm.nih.gov/pubmed/22128173 PubMed 25559186 http://www.ncbi.nlm.nih.gov/pubmed/25559186 Reactome R-HSA-3295583 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-3295583 RefSeq NP_076985 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_076985 STRING 9606.ENSP00000323926 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000323926&targetmode=cogs TCDB 1.A.4.5 http://www.tcdb.org/search/result.php?tc=1.A.4.5 UCSC uc002vvi http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002vvi&org=rat UniGene Hs.366053 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.366053 UniProtKB TRPM8_HUMAN http://www.uniprot.org/uniprot/TRPM8_HUMAN UniProtKB-AC Q7Z2W7 http://www.uniprot.org/uniprot/Q7Z2W7 charge swissprot:TRPM8_HUMAN http://rest.g-language.org/emboss/charge/swissprot:TRPM8_HUMAN eggNOG ENOG410INBX http://eggnogapi.embl.de/nog_data/html/tree/ENOG410INBX eggNOG ENOG4110YBY http://eggnogapi.embl.de/nog_data/html/tree/ENOG4110YBY epestfind swissprot:TRPM8_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:TRPM8_HUMAN garnier swissprot:TRPM8_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:TRPM8_HUMAN helixturnhelix swissprot:TRPM8_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:TRPM8_HUMAN hmoment swissprot:TRPM8_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:TRPM8_HUMAN iep swissprot:TRPM8_HUMAN http://rest.g-language.org/emboss/iep/swissprot:TRPM8_HUMAN inforesidue swissprot:TRPM8_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:TRPM8_HUMAN neXtProt NX_Q7Z2W7 http://www.nextprot.org/db/entry/NX_Q7Z2W7 octanol swissprot:TRPM8_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:TRPM8_HUMAN pepcoil swissprot:TRPM8_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:TRPM8_HUMAN pepdigest swissprot:TRPM8_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:TRPM8_HUMAN pepinfo swissprot:TRPM8_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:TRPM8_HUMAN pepnet swissprot:TRPM8_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:TRPM8_HUMAN pepstats swissprot:TRPM8_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:TRPM8_HUMAN pepwheel swissprot:TRPM8_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:TRPM8_HUMAN pepwindow swissprot:TRPM8_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:TRPM8_HUMAN sigcleave swissprot:TRPM8_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:TRPM8_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS SL9A3_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P48764-1; Sequence=Displayed; Name=2; IsoId=P48764-2; Sequence=VSP_053989; Note=No experimental confirmation available.; # AltName Na(+)/H(+) exchanger 3 {ECO:0000303|PubMed 7631746} # AltName SL9A3_HUMAN Solute carrier family 9 member 3 # BioGrid 112440 9 # CAUTION The number, localization and denomination of hydrophobic domains in the Na(+)/H(+) exchangers vary among authors. {ECO 0000305}. # CCDS CCDS3855 -. [P48764-1] # CCDS CCDS64116 -. [P48764-2] # DISEASE SL9A3_HUMAN Diarrhea 8, secretory sodium, congenital (DIAR8) [MIM 616868] A disease characterized by watery secretory diarrhea with prenatal onset, prominent abdominal distension after birth due to dilated fluid-filled loops of intestine, elevated fecal sodium concentrations and low urinary sodium concentrations. {ECO 0000269|PubMed 26358773}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000264938 ENSP00000264938; ENSG00000066230. [P48764-1] # Ensembl ENST00000514375 ENSP00000422983; ENSG00000066230. [P48764-2] # FUNCTION SL9A3_HUMAN Involved in pH regulation to eliminate acids generated by active metabolism or to counter adverse environmental conditions. Major proton extruding system driven by the inward sodium ion chemical gradient (PubMed 26358773). Plays an important role in signal transduction. {ECO 0000269|PubMed 26358773}. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0005903 brush border; ISS:UniProtKB. # GO_component GO:0009986 cell surface; ISS:UniProtKB. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0016324 apical plasma membrane; ISS:UniProtKB. # GO_component GO:0031526 brush border membrane; ISS:UniProtKB. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0030165 PDZ domain binding; ISS:UniProtKB. # GO_function SL9A3_HUMAN GO 0015385 sodium proton antiporter activity; IDA UniProtKB. # GO_function SL9A3_HUMAN GO 0015386 potassium proton antiporter activity; IBA GO_Central. # GO_process GO:0006811 ion transport; TAS:Reactome. # GO_process GO:0051453 regulation of intracellular pH; IBA:GO_Central. # GO_process GO:0071805 potassium ion transmembrane transport; IBA:GO_Central. # GO_process GO:0098719 sodium ion import across plasma membrane; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Genevisible P48764 HS # HGNC HGNC:11073 SLC9A3 # INTERACTION SL9A3_HUMAN Q6P0Q8 MAST2; NbExp=2; IntAct=EBI-7816923, EBI-493777; # InterPro IPR004709 NaH_exchanger # InterPro IPR006153 Cation/H_exchanger # InterPro IPR018410 Na/H_exchanger_3/5 # InterPro IPR018422 Cation/H_exchanger_CPA1 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02001 Solute carrier family # KEGG_Pathway ko04964 Proximal tubule bicarbonate reclamation # KEGG_Pathway ko04974 Protein digestion and absorption # KEGG_Pathway ko04976 Bile secretion # KEGG_Pathway ko04978 Mineral absorption # MIM 182307 gene # MIM 616868 phenotype # Organism SL9A3_HUMAN Homo sapiens (Human) # PANTHER PTHR10110 PTHR10110; 2 # PIR B40205 B40205 # PRINTS PR01084 NAHEXCHNGR # PRINTS PR01087 NAHEXCHNGR3 # PTM SL9A3_HUMAN Phosphorylated by PKA, which inhibits activity. Phosphorylation at Ser-663 by SGK1 is associated with increased abundance at the cell membrane. {ECO 0000250|UniProtKB P26432, ECO 0000250|UniProtKB P26433}. # Pfam PF00999 Na_H_Exchanger # Proteomes UP000005640 Chromosome 5 # Reactome R-HSA-425986 Sodium/Proton exchangers # RecName Sodium/hydrogen exchanger 3 {ECO 0000305} # RefSeq NP_001271280 NM_001284351.2. [P48764-2] # RefSeq NP_004165 NM_004174.3. [P48764-1] # SIMILARITY Belongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family. {ECO 0000305}. # SUBCELLULAR LOCATION SL9A3_HUMAN Apical cell membrane {ECO 0000269|PubMed 19088451, ECO 0000269|PubMed 26358773}; Multi- pass membrane protein {ECO 0000269|PubMed 19088451}. Note=In intestinal epithelial cells, localizes to the ileal brush border. Phosphorylation at Ser-663 by SGK1 is associated with increased abundance at the cell membrane. Angiotensin-2 enhances apical expression (By similarity). {ECO 0000250|UniProtKB Q28362}. # SUBUNIT SL9A3_HUMAN Binds SLC9A3R1 and SLC9A3R2. Interacts with CHP1, CHP2 and SHANK2. Interacts with PDZK1 (via C-terminal PDZ domain) (By similarity). Interacts with PDZD3 and interactions decrease in response to elevated calcium ion levels. Interacts with AHCYL1; the interaction is required for SLC9A3 activity (PubMed 18829453, PubMed 20584908). {ECO 0000250|UniProtKB P26432, ECO 0000250|UniProtKB P26433, ECO 0000250|UniProtKB Q28362, ECO 0000269|PubMed 18829453, ECO 0000269|PubMed 19088451, ECO 0000269|PubMed 20584908}. # TCDB 2.A.36.1.15:the monovalent cation proton antiporter-1 (cpa1) family # TIGRFAMs TIGR00840 b_cpa1 # UCSC uc003jbe human. [P48764-1] # eggNOG COG0025 LUCA # eggNOG KOG1966 Eukaryota BLAST swissprot:SL9A3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SL9A3_HUMAN BioCyc ZFISH:ENSG00000066230-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000066230-MONOMER COXPRESdb 6550 http://coxpresdb.jp/data/gene/6550.shtml CleanEx HS_SLC9A3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC9A3 DOI 10.1038/nature02919 http://dx.doi.org/10.1038/nature02919 DOI 10.1074/jbc.M110.133066 http://dx.doi.org/10.1074/jbc.M110.133066 DOI 10.1074/jbc.M805534200 http://dx.doi.org/10.1074/jbc.M805534200 DOI 10.1093/hmg/ddv367 http://dx.doi.org/10.1093/hmg/ddv367 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1159/000185553 http://dx.doi.org/10.1159/000185553 EMBL AC010442 http://www.ebi.ac.uk/ena/data/view/AC010442 EMBL AC106772 http://www.ebi.ac.uk/ena/data/view/AC106772 EMBL BC101669 http://www.ebi.ac.uk/ena/data/view/BC101669 EMBL BC101671 http://www.ebi.ac.uk/ena/data/view/BC101671 EMBL BC143328 http://www.ebi.ac.uk/ena/data/view/BC143328 EMBL U28043 http://www.ebi.ac.uk/ena/data/view/U28043 Ensembl ENST00000264938 http://www.ensembl.org/id/ENST00000264938 Ensembl ENST00000514375 http://www.ensembl.org/id/ENST00000514375 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005903 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005903 GO_component GO:0009986 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009986 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:0031526 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031526 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0015385 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015385 GO_function GO:0015386 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015386 GO_function GO:0030165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030165 GO_process GO:0006811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006811 GO_process GO:0051453 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051453 GO_process GO:0071805 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071805 GO_process GO:0098719 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0098719 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC9A3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC9A3 GeneID 6550 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6550 GeneTree ENSGT00760000119074 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119074 H-InvDB HIX0004707 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0004707 H-InvDB HIX0032039 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0032039 HGNC HGNC:11073 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11073 HOGENOM HOG000247044 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000247044&db=HOGENOM6 HOVERGEN HBG052615 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052615&db=HOVERGEN HPA HPA036493 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA036493 HPA HPA036669 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA036669 InParanoid P48764 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P48764 IntAct P48764 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P48764* InterPro IPR004709 http://www.ebi.ac.uk/interpro/entry/IPR004709 InterPro IPR006153 http://www.ebi.ac.uk/interpro/entry/IPR006153 InterPro IPR018410 http://www.ebi.ac.uk/interpro/entry/IPR018410 InterPro IPR018422 http://www.ebi.ac.uk/interpro/entry/IPR018422 Jabion 6550 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6550 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:6550 http://www.genome.jp/dbget-bin/www_bget?hsa:6550 KEGG_Orthology KO:K12040 http://www.genome.jp/dbget-bin/www_bget?KO:K12040 KEGG_Pathway ko04964 http://www.genome.jp/kegg-bin/show_pathway?ko04964 KEGG_Pathway ko04974 http://www.genome.jp/kegg-bin/show_pathway?ko04974 KEGG_Pathway ko04976 http://www.genome.jp/kegg-bin/show_pathway?ko04976 KEGG_Pathway ko04978 http://www.genome.jp/kegg-bin/show_pathway?ko04978 MIM 182307 http://www.ncbi.nlm.nih.gov/omim/182307 MIM 616868 http://www.ncbi.nlm.nih.gov/omim/616868 MINT MINT-1787470 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1787470 OMA YTMKMLA http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=YTMKMLA OrthoDB EOG091G02Q0 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G02Q0 PANTHER PTHR10110 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10110 PRINTS PR01084 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01084 PRINTS PR01087 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01087 PSORT swissprot:SL9A3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SL9A3_HUMAN PSORT-B swissprot:SL9A3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SL9A3_HUMAN PSORT2 swissprot:SL9A3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SL9A3_HUMAN Pfam PF00999 http://pfam.xfam.org/family/PF00999 PharmGKB PA316 http://www.pharmgkb.org/do/serve?objId=PA316&objCls=Gene Phobius swissprot:SL9A3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SL9A3_HUMAN PhylomeDB P48764 http://phylomedb.org/?seqid=P48764 ProteinModelPortal P48764 http://www.proteinmodelportal.org/query/uniprot/P48764 PubMed 15372022 http://www.ncbi.nlm.nih.gov/pubmed/15372022 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 18829453 http://www.ncbi.nlm.nih.gov/pubmed/18829453 PubMed 19088451 http://www.ncbi.nlm.nih.gov/pubmed/19088451 PubMed 20584908 http://www.ncbi.nlm.nih.gov/pubmed/20584908 PubMed 26358773 http://www.ncbi.nlm.nih.gov/pubmed/26358773 PubMed 7631746 http://www.ncbi.nlm.nih.gov/pubmed/7631746 Reactome R-HSA-425986 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-425986 RefSeq NP_001271280 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001271280 RefSeq NP_004165 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004165 SMR P48764 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P48764 STRING 9606.ENSP00000264938 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000264938&targetmode=cogs TCDB 2.A.36.1.15 http://www.tcdb.org/search/result.php?tc=2.A.36.1.15 TIGRFAMs TIGR00840 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00840 UCSC uc003jbe http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003jbe&org=rat UniGene Hs.658120 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.658120 UniProtKB SL9A3_HUMAN http://www.uniprot.org/uniprot/SL9A3_HUMAN UniProtKB-AC P48764 http://www.uniprot.org/uniprot/P48764 charge swissprot:SL9A3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SL9A3_HUMAN eggNOG COG0025 http://eggnogapi.embl.de/nog_data/html/tree/COG0025 eggNOG KOG1966 http://eggnogapi.embl.de/nog_data/html/tree/KOG1966 epestfind swissprot:SL9A3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SL9A3_HUMAN garnier swissprot:SL9A3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SL9A3_HUMAN helixturnhelix swissprot:SL9A3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SL9A3_HUMAN hmoment swissprot:SL9A3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SL9A3_HUMAN iep swissprot:SL9A3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SL9A3_HUMAN inforesidue swissprot:SL9A3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SL9A3_HUMAN neXtProt NX_P48764 http://www.nextprot.org/db/entry/NX_P48764 octanol swissprot:SL9A3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SL9A3_HUMAN pepcoil swissprot:SL9A3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SL9A3_HUMAN pepdigest swissprot:SL9A3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SL9A3_HUMAN pepinfo swissprot:SL9A3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SL9A3_HUMAN pepnet swissprot:SL9A3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SL9A3_HUMAN pepstats swissprot:SL9A3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SL9A3_HUMAN pepwheel swissprot:SL9A3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SL9A3_HUMAN pepwindow swissprot:SL9A3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SL9A3_HUMAN sigcleave swissprot:SL9A3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SL9A3_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S4A11_HUMAN Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q8NBS3-1; Sequence=Displayed; Name=2; IsoId=Q8NBS3-2; Sequence=VSP_035891; Note=No experimental confirmation available.; Name=3; IsoId=Q8NBS3-3; Sequence=VSP_044846; Note=No experimental confirmation available.; Name=4; IsoId=Q8NBS3-4; Sequence=VSP_054049; # AltName S4A11_HUMAN Bicarbonate transporter-related protein 1 # AltName S4A11_HUMAN Sodium borate cotransporter 1 # AltName S4A11_HUMAN Solute carrier family 4 member 11 # CCDS CCDS13052 -. [Q8NBS3-1] # CCDS CCDS54445 -. [Q8NBS3-4] # CCDS CCDS54446 -. [Q8NBS3-3] # DISEASE S4A11_HUMAN Corneal dystrophy and perceptive deafness (CDPD) [MIM 217400] An ocular disease characterized by the association of corneal clouding with progressive perceptive hearing loss. {ECO 0000269|PubMed 17220209}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE S4A11_HUMAN Corneal dystrophy, Fuchs endothelial, 4 (FECD4) [MIM 613268] A corneal disease caused by loss of endothelium of the central cornea. It is characterized by focal wart-like guttata that arise from Descemet membrane and develop in the central cornea, epithelial blisters, reduced vision and pain. Descemet membrane is thickened by abnormal collagenous deposition. {ECO 0000269|PubMed 18024964, ECO 0000269|PubMed 20848555, ECO 0000269|PubMed 25007886}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE S4A11_HUMAN Corneal endothelial dystrophy (CHED) [MIM 217700] A congenital corneal dystrophy characterized by thickening and opacification of the cornea, altered morphology of the endothelium, and secretion of an abnormal collagenous layer at the Descemet membrane. {ECO 0000269|PubMed 16767101, ECO 0000269|PubMed 16825429, ECO 0000269|PubMed 17220209, ECO 0000269|PubMed 17397048, ECO 0000269|PubMed 17679935, ECO 0000269|PubMed 18474783, ECO 0000269|PubMed 19369245, ECO 0000269|PubMed 20108384, ECO 0000269|PubMed 21203343, ECO 0000269|PubMed 26286922}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000380056 ENSP00000369396; ENSG00000088836. [Q8NBS3-1] # Ensembl ENST00000380059 ENSP00000369399; ENSG00000088836. [Q8NBS3-4] # Ensembl ENST00000539553 ENSP00000441370; ENSG00000088836. [Q8NBS3-3] # ExpressionAtlas Q8NBS3 baseline and differential # FUNCTION S4A11_HUMAN Transporter which plays an important role in sodium- mediated fluid transport in different organs. Prevents severe morphological changes of the cornea caused by increased sodium chloride concentrations in the stroma. In the inner ear, is involved in transport of potassium through the fibrocyte layer to the stria vascularis and is essential for the generation of the endocochlear potential but not for regulation of potassium concentrations in the endolymph. In the kidney, is essential for urinary concentration, mediates a sodium flux into the thin descending limb of Henle loop to allow countercurrent multiplication by osmotic equilibration (By similarity). Involved in borate homeostasis. In the absence of borate, it functions as a Na(+) and OH(-)(H(+)) channel. In the presence of borate functions as an electrogenic Na(+) coupled borate cotransporter. {ECO 0000250|UniProtKB A2AJN7, ECO 0000269|PubMed 15525507, ECO 0000269|PubMed 25007886}. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0016323 basolateral plasma membrane; TAS:HGNC. # GO_function GO:0005272 sodium channel activity; IDA:HGNC. # GO_function GO:0005452 inorganic anion exchanger activity; IEA:InterPro. # GO_function GO:0015106 bicarbonate transmembrane transporter activity; IDA:HGNC. # GO_function GO:0015252 hydrogen ion channel activity; IDA:HGNC. # GO_function GO:0015293 symporter activity; IEA:UniProtKB-KW. # GO_function GO:0046715 borate transmembrane transporter activity; IDA:HGNC. # GO_function GO:0046983 protein dimerization activity; IDA:UniProtKB. # GO_function S4A11_HUMAN GO 0015301 anion anion antiporter activity; IEA UniProtKB-KW. # GO_process GO:0006814 sodium ion transport; IDA:HGNC. # GO_process GO:0015701 bicarbonate transport; IDA:HGNC. # GO_process GO:0015992 proton transport; IDA:HGNC. # GO_process GO:0030003 cellular cation homeostasis; IDA:HGNC. # GO_process GO:0042044 fluid transport; ISS:UniProtKB. # GO_process GO:0046713 borate transport; IDA:HGNC. # GO_process GO:0051453 regulation of intracellular pH; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0042592 homeostatic process # Gene3D 3.40.930.10 -; 1. # Genevisible Q8NBS3 HS # HGNC HGNC:16438 SLC4A11 # InterPro IPR002178 PTS_EIIA_type-2_dom # InterPro IPR003020 HCO3_transpt_euk # InterPro IPR011531 HCO3_transpt_C # InterPro IPR016152 PTrfase/Anion_transptr # KEGG_Brite ko02001 Solute carrier family # KEGG_Disease H00960 [Eye disease] Fuchs endothelial corneal dystrophy # KEGG_Disease H00963 [Eye disease] Harboyan syndrome # MIM 217400 phenotype # MIM 217700 phenotype # MIM 610206 gene # MIM 613268 phenotype # Organism S4A11_HUMAN Homo sapiens (Human) # Orphanet 1490 Corneal dystrophy - perceptive deafness # Orphanet 293603 Congenital hereditary endothelial dystrophy type II # Orphanet 98974 Fuchs endothelial corneal dystrophy # PANTHER PTHR11453 PTHR11453 # PRINTS PR01231 HCO3TRNSPORT # PTM S4A11_HUMAN Glycosylated. {ECO 0000269|PubMed 18024964}. # Pfam PF00955 HCO3_cotransp # Proteomes UP000005640 Chromosome 20 # RecName S4A11_HUMAN Sodium bicarbonate transporter-like protein 11 # RefSeq NP_001167560 NM_001174089.1. [Q8NBS3-3] # RefSeq NP_001167561 NM_001174090.1. [Q8NBS3-4] # RefSeq NP_114423 NM_032034.3. [Q8NBS3-1] # SEQUENCE CAUTION Sequence=BAC11536.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAB90170.4; Type=Erroneous gene model prediction; Evidence={ECO 0000305}; Sequence=CAD55942.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; # SIMILARITY Belongs to the anion exchanger (TC 2.A.31) family. {ECO 0000305}. # SUBCELLULAR LOCATION S4A11_HUMAN Cell membrane {ECO 0000269|PubMed 18024964, ECO 0000269|PubMed 25007886}. Membrane {ECO 0000269|PubMed 18024964}; Multi-pass membrane protein {ECO 0000269|PubMed 18024964}. # SUBUNIT S4A11_HUMAN Homodimer. # SUPFAM SSF55804 SSF55804 # TCDB 2.A.31.4 the anion exchanger (ae) family # TISSUE SPECIFICITY S4A11_HUMAN Widely expressed. Highly expressed in kidney, testis, salivary gland, thyroid, trachea and corneal endothelium. Not detected in retina and lymphocytes. {ECO 0000269|PubMed 11302728, ECO 0000269|PubMed 16767101}. # UCSC uc002wig human. [Q8NBS3-1] # eggNOG ENOG410XPHD LUCA # eggNOG KOG1172 Eukaryota BLAST swissprot:S4A11_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S4A11_HUMAN COXPRESdb 83959 http://coxpresdb.jp/data/gene/83959.shtml CleanEx HS_SLC4A11 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC4A11 DOI 10.1001/archopht.126.5.700 http://dx.doi.org/10.1001/archopht.126.5.700 DOI 10.1002/humu.21356 http://dx.doi.org/10.1002/humu.21356 DOI 10.1002/humu.21655 http://dx.doi.org/10.1002/humu.21655 DOI 10.1002/humu.9487 http://dx.doi.org/10.1002/humu.9487 DOI 10.1006/bbrc.2001.4692 http://dx.doi.org/10.1006/bbrc.2001.4692 DOI 10.1016/j.molcel.2004.09.030 http://dx.doi.org/10.1016/j.molcel.2004.09.030 DOI 10.1038/414865a http://dx.doi.org/10.1038/414865a DOI 10.1038/jhg.2014.55 http://dx.doi.org/10.1038/jhg.2014.55 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1038/ng1824 http://dx.doi.org/10.1038/ng1824 DOI 10.1074/jbc.M109.094680 http://dx.doi.org/10.1074/jbc.M109.094680 DOI 10.1093/hmg/ddm337 http://dx.doi.org/10.1093/hmg/ddm337 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/cxo.12276 http://dx.doi.org/10.1111/cxo.12276 DOI 10.1136/jmg.2006.044644 http://dx.doi.org/10.1136/jmg.2006.044644 DOI 10.1136/jmg.2006.046904 http://dx.doi.org/10.1136/jmg.2006.046904 DOI 10.1167/iovs.08-3006 http://dx.doi.org/10.1167/iovs.08-3006 EMBL AF336127 http://www.ebi.ac.uk/ena/data/view/AF336127 EMBL AK075303 http://www.ebi.ac.uk/ena/data/view/AK075303 EMBL AK296508 http://www.ebi.ac.uk/ena/data/view/AK296508 EMBL AK296760 http://www.ebi.ac.uk/ena/data/view/AK296760 EMBL AL109976 http://www.ebi.ac.uk/ena/data/view/AL109976 EMBL AL109976 http://www.ebi.ac.uk/ena/data/view/AL109976 EMBL AL109976 http://www.ebi.ac.uk/ena/data/view/AL109976 EMBL BC110540 http://www.ebi.ac.uk/ena/data/view/BC110540 EMBL BC110541 http://www.ebi.ac.uk/ena/data/view/BC110541 EMBL CH471133 http://www.ebi.ac.uk/ena/data/view/CH471133 Ensembl ENST00000380056 http://www.ensembl.org/id/ENST00000380056 Ensembl ENST00000380059 http://www.ensembl.org/id/ENST00000380059 Ensembl ENST00000539553 http://www.ensembl.org/id/ENST00000539553 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016323 GO_function GO:0005272 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005272 GO_function GO:0005452 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005452 GO_function GO:0015106 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015106 GO_function GO:0015252 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015252 GO_function GO:0015293 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015293 GO_function GO:0015301 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015301 GO_function GO:0046715 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046715 GO_function GO:0046983 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046983 GO_process GO:0006814 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006814 GO_process GO:0015701 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015701 GO_process GO:0015992 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015992 GO_process GO:0030003 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030003 GO_process GO:0042044 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042044 GO_process GO:0046713 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046713 GO_process GO:0051453 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051453 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 Gene3D 3.40.930.10 http://www.cathdb.info/version/latest/superfamily/3.40.930.10 GeneCards SLC4A11 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC4A11 GeneID 83959 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=83959 GeneTree ENSGT00760000119021 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119021 HGNC HGNC:16438 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:16438 HOGENOM HOG000016966 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000016966&db=HOGENOM6 HOVERGEN HBG079162 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG079162&db=HOVERGEN HPA HPA018120 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA018120 HPA HPA058377 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA058377 InParanoid Q8NBS3 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8NBS3 InterPro IPR002178 http://www.ebi.ac.uk/interpro/entry/IPR002178 InterPro IPR003020 http://www.ebi.ac.uk/interpro/entry/IPR003020 InterPro IPR011531 http://www.ebi.ac.uk/interpro/entry/IPR011531 InterPro IPR016152 http://www.ebi.ac.uk/interpro/entry/IPR016152 Jabion 83959 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=83959 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Disease H00960 http://www.genome.jp/dbget-bin/www_bget?H00960 KEGG_Disease H00963 http://www.genome.jp/dbget-bin/www_bget?H00963 KEGG_Gene hsa:83959 http://www.genome.jp/dbget-bin/www_bget?hsa:83959 KEGG_Orthology KO:K13862 http://www.genome.jp/dbget-bin/www_bget?KO:K13862 MIM 217400 http://www.ncbi.nlm.nih.gov/omim/217400 MIM 217700 http://www.ncbi.nlm.nih.gov/omim/217700 MIM 610206 http://www.ncbi.nlm.nih.gov/omim/610206 MIM 613268 http://www.ncbi.nlm.nih.gov/omim/613268 OMA NSFYAWT http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=NSFYAWT Orphanet 1490 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1490 Orphanet 293603 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=293603 Orphanet 98974 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=98974 OrthoDB EOG091G01E4 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G01E4 PANTHER PTHR11453 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11453 PRINTS PR01231 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01231 PSORT swissprot:S4A11_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S4A11_HUMAN PSORT-B swissprot:S4A11_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S4A11_HUMAN PSORT2 swissprot:S4A11_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S4A11_HUMAN Pfam PF00955 http://pfam.xfam.org/family/PF00955 PharmGKB PA38139 http://www.pharmgkb.org/do/serve?objId=PA38139&objCls=Gene Phobius swissprot:S4A11_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S4A11_HUMAN PhylomeDB Q8NBS3 http://phylomedb.org/?seqid=Q8NBS3 ProteinModelPortal Q8NBS3 http://www.proteinmodelportal.org/query/uniprot/Q8NBS3 PubMed 11302728 http://www.ncbi.nlm.nih.gov/pubmed/11302728 PubMed 11780052 http://www.ncbi.nlm.nih.gov/pubmed/11780052 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15525507 http://www.ncbi.nlm.nih.gov/pubmed/15525507 PubMed 16767101 http://www.ncbi.nlm.nih.gov/pubmed/16767101 PubMed 16825429 http://www.ncbi.nlm.nih.gov/pubmed/16825429 PubMed 17220209 http://www.ncbi.nlm.nih.gov/pubmed/17220209 PubMed 17397048 http://www.ncbi.nlm.nih.gov/pubmed/17397048 PubMed 17679935 http://www.ncbi.nlm.nih.gov/pubmed/17679935 PubMed 18024964 http://www.ncbi.nlm.nih.gov/pubmed/18024964 PubMed 18474783 http://www.ncbi.nlm.nih.gov/pubmed/18474783 PubMed 19369245 http://www.ncbi.nlm.nih.gov/pubmed/19369245 PubMed 20108384 http://www.ncbi.nlm.nih.gov/pubmed/20108384 PubMed 20185830 http://www.ncbi.nlm.nih.gov/pubmed/20185830 PubMed 20848555 http://www.ncbi.nlm.nih.gov/pubmed/20848555 PubMed 21203343 http://www.ncbi.nlm.nih.gov/pubmed/21203343 PubMed 22072594 http://www.ncbi.nlm.nih.gov/pubmed/22072594 PubMed 25007886 http://www.ncbi.nlm.nih.gov/pubmed/25007886 PubMed 26286922 http://www.ncbi.nlm.nih.gov/pubmed/26286922 RefSeq NP_001167560 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001167560 RefSeq NP_001167561 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001167561 RefSeq NP_114423 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_114423 STRING 9606.ENSP00000369399 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000369399&targetmode=cogs SUPFAM SSF55804 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF55804 TCDB 2.A.31.4 http://www.tcdb.org/search/result.php?tc=2.A.31.4 UCSC uc002wig http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002wig&org=rat UniGene Hs.105607 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.105607 UniProtKB S4A11_HUMAN http://www.uniprot.org/uniprot/S4A11_HUMAN UniProtKB-AC Q8NBS3 http://www.uniprot.org/uniprot/Q8NBS3 charge swissprot:S4A11_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S4A11_HUMAN eggNOG ENOG410XPHD http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XPHD eggNOG KOG1172 http://eggnogapi.embl.de/nog_data/html/tree/KOG1172 epestfind swissprot:S4A11_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S4A11_HUMAN garnier swissprot:S4A11_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S4A11_HUMAN helixturnhelix swissprot:S4A11_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S4A11_HUMAN hmoment swissprot:S4A11_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S4A11_HUMAN iep swissprot:S4A11_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S4A11_HUMAN inforesidue swissprot:S4A11_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S4A11_HUMAN neXtProt NX_Q8NBS3 http://www.nextprot.org/db/entry/NX_Q8NBS3 octanol swissprot:S4A11_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S4A11_HUMAN pepcoil swissprot:S4A11_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S4A11_HUMAN pepdigest swissprot:S4A11_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S4A11_HUMAN pepinfo swissprot:S4A11_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S4A11_HUMAN pepnet swissprot:S4A11_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S4A11_HUMAN pepstats swissprot:S4A11_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S4A11_HUMAN pepwheel swissprot:S4A11_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S4A11_HUMAN pepwindow swissprot:S4A11_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S4A11_HUMAN sigcleave swissprot:S4A11_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S4A11_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS VDAC3_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9Y277-1; Sequence=Displayed; Name=2; IsoId=Q9Y277-2; Sequence=VSP_005079; # AltName VDAC3_HUMAN Outer mitochondrial membrane protein porin 3 # BioGrid 113262 109 # CCDS CCDS47850 -. [Q9Y277-2] # CCDS CCDS6131 -. [Q9Y277-1] # ChiTaRS VDAC3 human # DOMAIN VDAC3_HUMAN Consists mainly of a membrane-spanning beta-barrel formed by 19 beta-strands. {ECO 0000250}. # DrugBank DB01375 Dihydroxyaluminium # Ensembl ENST00000022615 ENSP00000022615; ENSG00000078668. [Q9Y277-1] # Ensembl ENST00000521158 ENSP00000428845; ENSG00000078668. [Q9Y277-2] # ExpressionAtlas Q9Y277 baseline and differential # FUNCTION VDAC3_HUMAN Forms a channel through the mitochondrial outer membrane that allows diffusion of small hydrophilic molecules. {ECO 0000250}. # GO_component GO:0005634 nucleus; IDA:UniProtKB. # GO_component GO:0005739 mitochondrion; IDA:UniProtKB. # GO_component GO:0005741 mitochondrial outer membrane; TAS:ProtInc. # GO_component GO:0046930 pore complex; IEA:UniProtKB-KW. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0000166 nucleotide binding; IEA:UniProtKB-KW. # GO_function GO:0008308 voltage-gated anion channel activity; TAS:UniProtKB. # GO_function GO:0015288 porin activity; IEA:UniProtKB-KW. # GO_process GO:0015853 adenine transport; TAS:ProtInc. # GO_process GO:1902017 regulation of cilium assembly; IEA:InterPro. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005739 mitochondrion # GOslim_component GO:0043226 organelle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # Gene3D 2.40.160.10 -; 1. # Genevisible Q9Y277 HS # HGNC HGNC:12674 VDAC3 # IntAct Q9Y277 16 # InterPro IPR001925 Porin_Euk # InterPro IPR023614 Porin_dom # InterPro IPR027246 Porin_Euk/Tom40 # InterPro IPR030271 VDAC3 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02000 Transporters # KEGG_Pathway ko04020 Calcium signaling pathway # KEGG_Pathway ko05012 Parkinson's disease # KEGG_Pathway ko05016 Huntington's disease # KEGG_Pathway ko05161 Hepatitis B # KEGG_Pathway ko05166 HTLV-I infection # KEGG_Pathway ko05203 Viral carcinogenesis # MIM 610029 gene # Organism VDAC3_HUMAN Homo sapiens (Human) # PANTHER PTHR11743:SF28 PTHR11743:SF28 # PRINTS PR00185 EUKARYTPORIN # PROSITE PS00558 EUKARYOTIC_PORIN # PTM VDAC3_HUMAN Ubiquitinated by PARK2 during mitophagy, leading to its degradation and enhancement of mitophagy. Deubiquitinated by USP30. {ECO 0000269|PubMed 25621951}. # Pfam PF01459 Porin_3 # Proteomes UP000005640 Chromosome 8 # Reactome R-HSA-5689880 Ub-specific processing proteases # RecName VDAC3_HUMAN Voltage-dependent anion-selective channel protein 3 # RefSeq NP_001129166 NM_001135694.2. [Q9Y277-2] # RefSeq NP_005653 NM_005662.6. [Q9Y277-1] # SIMILARITY Belongs to the eukaryotic mitochondrial porin family. {ECO 0000305}. # SUBCELLULAR LOCATION VDAC3_HUMAN Mitochondrion outer membrane. # TISSUE SPECIFICITY VDAC3_HUMAN Widely expressed. Highest in testis. # UCSC uc003xpc human. [Q9Y277-1] # eggNOG ENOG410ZBK1 LUCA # eggNOG KOG3126 Eukaryota BLAST swissprot:VDAC3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:VDAC3_HUMAN BioCyc ZFISH:ENSG00000078668-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000078668-MONOMER COXPRESdb 7419 http://coxpresdb.jp/data/gene/7419.shtml CleanEx HS_VDAC3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_VDAC3 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1006/mgme.2000.2987 http://dx.doi.org/10.1006/mgme.2000.2987 DOI 10.1007/s003359901158 http://dx.doi.org/10.1007/s003359901158 DOI 10.1021/ac9004309 http://dx.doi.org/10.1021/ac9004309 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/ncb3097 http://dx.doi.org/10.1038/ncb3097 DOI 10.1038/sj.ejhg.5200198 http://dx.doi.org/10.1038/sj.ejhg.5200198 DOI 10.1073/pnas.95.14.8175 http://dx.doi.org/10.1073/pnas.95.14.8175 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1175371 http://dx.doi.org/10.1126/science.1175371 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DrugBank DB01375 http://www.drugbank.ca/drugs/DB01375 EMBL AF038962 http://www.ebi.ac.uk/ena/data/view/AF038962 EMBL AH008073 http://www.ebi.ac.uk/ena/data/view/AH008073 EMBL BC056870 http://www.ebi.ac.uk/ena/data/view/BC056870 EMBL U90943 http://www.ebi.ac.uk/ena/data/view/U90943 Ensembl ENST00000022615 http://www.ensembl.org/id/ENST00000022615 Ensembl ENST00000521158 http://www.ensembl.org/id/ENST00000521158 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005741 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005741 GO_component GO:0046930 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046930 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0000166 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000166 GO_function GO:0008308 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008308 GO_function GO:0015288 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015288 GO_process GO:0015853 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015853 GO_process GO:1902017 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902017 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 Gene3D 2.40.160.10 http://www.cathdb.info/version/latest/superfamily/2.40.160.10 GeneCards VDAC3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=VDAC3 GeneID 7419 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=7419 GeneTree ENSGT00390000011336 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000011336 HGNC HGNC:12674 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:12674 HOGENOM HOG000188277 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000188277&db=HOGENOM6 HOVERGEN HBG054036 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG054036&db=HOVERGEN HPA HPA026864 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA026864 InParanoid Q9Y277 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9Y277 IntAct Q9Y277 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9Y277* InterPro IPR001925 http://www.ebi.ac.uk/interpro/entry/IPR001925 InterPro IPR023614 http://www.ebi.ac.uk/interpro/entry/IPR023614 InterPro IPR027246 http://www.ebi.ac.uk/interpro/entry/IPR027246 InterPro IPR030271 http://www.ebi.ac.uk/interpro/entry/IPR030271 Jabion 7419 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=7419 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Gene hsa:7419 http://www.genome.jp/dbget-bin/www_bget?hsa:7419 KEGG_Orthology KO:K15041 http://www.genome.jp/dbget-bin/www_bget?KO:K15041 KEGG_Pathway ko04020 http://www.genome.jp/kegg-bin/show_pathway?ko04020 KEGG_Pathway ko05012 http://www.genome.jp/kegg-bin/show_pathway?ko05012 KEGG_Pathway ko05016 http://www.genome.jp/kegg-bin/show_pathway?ko05016 KEGG_Pathway ko05161 http://www.genome.jp/kegg-bin/show_pathway?ko05161 KEGG_Pathway ko05166 http://www.genome.jp/kegg-bin/show_pathway?ko05166 KEGG_Pathway ko05203 http://www.genome.jp/kegg-bin/show_pathway?ko05203 MIM 610029 http://www.ncbi.nlm.nih.gov/omim/610029 MINT MINT-1395020 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1395020 OMA ICNYGLT http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=ICNYGLT OrthoDB EOG091G0F0O http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0F0O PANTHER PTHR11743:SF28 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11743:SF28 PRINTS PR00185 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00185 PROSITE PS00558 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00558 PSORT swissprot:VDAC3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:VDAC3_HUMAN PSORT-B swissprot:VDAC3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:VDAC3_HUMAN PSORT2 swissprot:VDAC3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:VDAC3_HUMAN Pfam PF01459 http://pfam.xfam.org/family/PF01459 PharmGKB PA37297 http://www.pharmgkb.org/do/serve?objId=PA37297&objCls=Gene Phobius swissprot:VDAC3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:VDAC3_HUMAN PhylomeDB Q9Y277 http://phylomedb.org/?seqid=Q9Y277 ProteinModelPortal Q9Y277 http://www.proteinmodelportal.org/query/uniprot/Q9Y277 PubMed 10501981 http://www.ncbi.nlm.nih.gov/pubmed/10501981 PubMed 10833333 http://www.ncbi.nlm.nih.gov/pubmed/10833333 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 19413330 http://www.ncbi.nlm.nih.gov/pubmed/19413330 PubMed 19608861 http://www.ncbi.nlm.nih.gov/pubmed/19608861 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 25621951 http://www.ncbi.nlm.nih.gov/pubmed/25621951 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 9653160 http://www.ncbi.nlm.nih.gov/pubmed/9653160 PubMed 9781040 http://www.ncbi.nlm.nih.gov/pubmed/9781040 Reactome R-HSA-5689880 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5689880 RefSeq NP_001129166 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001129166 RefSeq NP_005653 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_005653 SMR Q9Y277 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9Y277 STRING 9606.ENSP00000428845 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000428845&targetmode=cogs UCSC uc003xpc http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003xpc&org=rat UniGene Hs.699301 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.699301 UniProtKB VDAC3_HUMAN http://www.uniprot.org/uniprot/VDAC3_HUMAN UniProtKB-AC Q9Y277 http://www.uniprot.org/uniprot/Q9Y277 charge swissprot:VDAC3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:VDAC3_HUMAN eggNOG ENOG410ZBK1 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410ZBK1 eggNOG KOG3126 http://eggnogapi.embl.de/nog_data/html/tree/KOG3126 epestfind swissprot:VDAC3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:VDAC3_HUMAN garnier swissprot:VDAC3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:VDAC3_HUMAN helixturnhelix swissprot:VDAC3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:VDAC3_HUMAN hmoment swissprot:VDAC3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:VDAC3_HUMAN iep swissprot:VDAC3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:VDAC3_HUMAN inforesidue swissprot:VDAC3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:VDAC3_HUMAN neXtProt NX_Q9Y277 http://www.nextprot.org/db/entry/NX_Q9Y277 octanol swissprot:VDAC3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:VDAC3_HUMAN pepcoil swissprot:VDAC3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:VDAC3_HUMAN pepdigest swissprot:VDAC3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:VDAC3_HUMAN pepinfo swissprot:VDAC3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:VDAC3_HUMAN pepnet swissprot:VDAC3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:VDAC3_HUMAN pepstats swissprot:VDAC3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:VDAC3_HUMAN pepwheel swissprot:VDAC3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:VDAC3_HUMAN pepwindow swissprot:VDAC3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:VDAC3_HUMAN sigcleave swissprot:VDAC3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:VDAC3_HUMAN ## Database ID URL or Descriptions # AltName GPHRB_HUMAN Protein GPR89B # BioGrid 119554 16 # BioGrid 575849 36 # Ensembl ENST00000314163 ENSP00000358233; ENSG00000188092 # ExpressionAtlas P0CG08 baseline and differential # FUNCTION GPHRB_HUMAN Voltage dependent anion channel required for acidification and functions of the Golgi apparatus that may function in counter-ion conductance. {ECO 0000250, ECO 0000269|PubMed 18794847}. # GO_component GO:0000139 Golgi membrane; IEA:UniProtKB-SubCell. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0005244 voltage-gated ion channel activity; IEA:UniProtKB-KW. # GO_process GO:0015031 protein transport; IEA:UniProtKB-KW. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # Genevisible P0CG08 HS # HGNC HGNC:13840 GPR89B # InterPro IPR015672 GPHR/GTG # InterPro IPR022535 Golgi_pH-regulator_cons_dom # InterPro IPR025969 ABA_GPCR_dom # MIM 612806 gene # MISCELLANEOUS GPHRB_HUMAN Does not seem to be able to bind GTP. # Organism GPHRB_HUMAN Homo sapiens (Human) # PANTHER PTHR15948 PTHR15948 # Pfam PF12430 ABA_GPCR # Pfam PF12537 GPHR_N # Proteomes UP000005640 Chromosome 1 # RecName GPHRB_HUMAN Golgi pH regulator B # RefSeq NP_001091081 NM_001097612.1 # RefSeq NP_057418 NM_016334.3 # RefSeq XP_005277458 XM_005277401.3 # RefSeq XP_006711555 XM_006711492.3 # RefSeq XP_011507915 XM_011509613.2 # RefSeq XP_011508212 XM_011509910.2 # SEQUENCE CAUTION Sequence=AAF36121.1; Type=Erroneous termination; Positions=297; Note=Translated as Cys.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the Golgi pH regulator (TC 1.A.38) family. {ECO 0000305}. # SUBCELLULAR LOCATION GPHRB_HUMAN Golgi apparatus membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. # SUBUNIT Homotrimer. {ECO 0000250}. # TISSUE SPECIFICITY Ubiquitous. {ECO:0000269|PubMed 18794847}. # eggNOG ENOG410XQ8R LUCA # eggNOG KOG2417 Eukaryota BLAST swissprot:GPHRB_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:GPHRB_HUMAN BioCyc ZFISH:G66-32328-MONOMER http://biocyc.org/getid?id=ZFISH:G66-32328-MONOMER BioCyc ZFISH:G66-32998-MONOMER http://biocyc.org/getid?id=ZFISH:G66-32998-MONOMER COXPRESdb 51463 http://coxpresdb.jp/data/gene/51463.shtml COXPRESdb 653519 http://coxpresdb.jp/data/gene/653519.shtml DOI 10.1016/j.cell.2008.12.026 http://dx.doi.org/10.1016/j.cell.2008.12.026 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1038/ncb1773 http://dx.doi.org/10.1038/ncb1773 DOI 10.1101/gr.140200 http://dx.doi.org/10.1101/gr.140200 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 EMBL AF151035 http://www.ebi.ac.uk/ena/data/view/AF151035 EMBL AL133020 http://www.ebi.ac.uk/ena/data/view/AL133020 EMBL AL356004 http://www.ebi.ac.uk/ena/data/view/AL356004 EMBL AL445591 http://www.ebi.ac.uk/ena/data/view/AL445591 EMBL AL445591 http://www.ebi.ac.uk/ena/data/view/AL445591 EMBL BX537254 http://www.ebi.ac.uk/ena/data/view/BX537254 EMBL BX537254 http://www.ebi.ac.uk/ena/data/view/BX537254 EMBL U78723 http://www.ebi.ac.uk/ena/data/view/U78723 Ensembl ENST00000314163 http://www.ensembl.org/id/ENST00000314163 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000139 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005244 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005244 GO_process GO:0015031 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015031 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GeneCards GPR89B http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=GPR89B GeneID 51463 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=51463 GeneID 653519 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=653519 GeneTree ENSGT00390000000684 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000000684 H-InvDB HIX0000982 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0000982 H-InvDB HIX0056760 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0056760 H-InvDB HIX0159660 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0159660 HGNC HGNC:13840 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:13840 HOGENOM HOG000240999 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000240999&db=HOGENOM6 HOVERGEN HBG054909 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG054909&db=HOVERGEN InParanoid P0CG08 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P0CG08 InterPro IPR015672 http://www.ebi.ac.uk/interpro/entry/IPR015672 InterPro IPR022535 http://www.ebi.ac.uk/interpro/entry/IPR022535 InterPro IPR025969 http://www.ebi.ac.uk/interpro/entry/IPR025969 Jabion 51463 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=51463 Jabion 653519 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=653519 KEGG_Gene hsa:51463 http://www.genome.jp/dbget-bin/www_bget?hsa:51463 KEGG_Gene hsa:653519 http://www.genome.jp/dbget-bin/www_bget?hsa:653519 MIM 612806 http://www.ncbi.nlm.nih.gov/omim/612806 OrthoDB EOG091G06HP http://cegg.unige.ch/orthodb/results?searchtext=EOG091G06HP PANTHER PTHR15948 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR15948 PSORT swissprot:GPHRB_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:GPHRB_HUMAN PSORT-B swissprot:GPHRB_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:GPHRB_HUMAN PSORT2 swissprot:GPHRB_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:GPHRB_HUMAN Pfam PF12430 http://pfam.xfam.org/family/PF12430 Pfam PF12537 http://pfam.xfam.org/family/PF12537 PharmGKB PA134986137 http://www.pharmgkb.org/do/serve?objId=PA134986137&objCls=Gene PharmGKB PA143485481 http://www.pharmgkb.org/do/serve?objId=PA143485481&objCls=Gene Phobius swissprot:GPHRB_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:GPHRB_HUMAN PhylomeDB P0CG08 http://phylomedb.org/?seqid=P0CG08 ProteinModelPortal P0CG08 http://www.proteinmodelportal.org/query/uniprot/P0CG08 PubMed 11042152 http://www.ncbi.nlm.nih.gov/pubmed/11042152 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 PubMed 18794847 http://www.ncbi.nlm.nih.gov/pubmed/18794847 PubMed 19135895 http://www.ncbi.nlm.nih.gov/pubmed/19135895 RefSeq NP_001091081 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001091081 RefSeq NP_057418 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_057418 RefSeq XP_005277458 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005277458 RefSeq XP_006711555 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006711555 RefSeq XP_011507915 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011507915 RefSeq XP_011508212 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011508212 STRING 9606.ENSP00000358233 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000358233&targetmode=cogs UniGene Hs.504320 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.504320 UniGene Hs.559115 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.559115 UniGene Hs.645432 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.645432 UniGene Hs.680770 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.680770 UniProtKB GPHRB_HUMAN http://www.uniprot.org/uniprot/GPHRB_HUMAN UniProtKB-AC P0CG08 http://www.uniprot.org/uniprot/P0CG08 charge swissprot:GPHRB_HUMAN http://rest.g-language.org/emboss/charge/swissprot:GPHRB_HUMAN eggNOG ENOG410XQ8R http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XQ8R eggNOG KOG2417 http://eggnogapi.embl.de/nog_data/html/tree/KOG2417 epestfind swissprot:GPHRB_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:GPHRB_HUMAN garnier swissprot:GPHRB_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:GPHRB_HUMAN helixturnhelix swissprot:GPHRB_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:GPHRB_HUMAN hmoment swissprot:GPHRB_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:GPHRB_HUMAN iep swissprot:GPHRB_HUMAN http://rest.g-language.org/emboss/iep/swissprot:GPHRB_HUMAN inforesidue swissprot:GPHRB_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:GPHRB_HUMAN neXtProt NX_P0CG08 http://www.nextprot.org/db/entry/NX_P0CG08 octanol swissprot:GPHRB_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:GPHRB_HUMAN pepcoil swissprot:GPHRB_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:GPHRB_HUMAN pepdigest swissprot:GPHRB_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:GPHRB_HUMAN pepinfo swissprot:GPHRB_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:GPHRB_HUMAN pepnet swissprot:GPHRB_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:GPHRB_HUMAN pepstats swissprot:GPHRB_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:GPHRB_HUMAN pepwheel swissprot:GPHRB_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:GPHRB_HUMAN pepwindow swissprot:GPHRB_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:GPHRB_HUMAN sigcleave swissprot:GPHRB_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:GPHRB_HUMAN ## Database ID URL or Descriptions # AltName AT1A2_HUMAN Sodium pump subunit alpha-2 # BioGrid 106967 19 # CATALYTIC ACTIVITY AT1A2_HUMAN ATP + H(2)O + Na(+)(In) + K(+)(Out) = ADP + phosphate + Na(+)(Out) + K(+)(In). # ChiTaRS ATP1A2 human # DISEASE AT1A2_HUMAN Alternating hemiplegia of childhood 1 (AHC1) [MIM 104290] A rare syndrome of episodic hemi- or quadriplegia lasting minutes to days. Most cases are accompanied by dystonic posturing, choreoathetoid movements, nystagmus, other ocular motor abnormalities, autonomic disturbances, and progressive cognitive impairment. It is typically distinguished from familial hemiplegic migraine by infantile onset and high prevalence of associated neurological deficits that become increasingly obvious with age. {ECO 0000269|PubMed 15174025}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE AT1A2_HUMAN Migraine, familial hemiplegic, 2 (FHM2) [MIM 602481] A subtype of migraine with aura associated with hemiparesis in some families. Migraine is a disabling symptom complex of periodic headaches, usually temporal and unilateral. Headaches are often accompanied by irritability, nausea, vomiting and photophobia, preceded by constriction of the cranial arteries. Migraine with aura is characterized by recurrent attacks of reversible neurological symptoms (aura) that precede or accompany the headache. Aura may include a combination of sensory disturbances, such as blurred vision, hallucinations, vertigo, numbness and difficulty in concentrating and speaking. {ECO 0000269|PubMed 12539047, ECO 0000269|PubMed 12953268, ECO 0000269|PubMed 21352219, ECO 0000269|PubMed 23838748, ECO 0000269|PubMed 23918834}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000361216 ENSP00000354490; ENSG00000018625 # ExpressionAtlas P50993 baseline and differential # FUNCTION AT1A2_HUMAN This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of sodium and potassium, providing the energy for active transport of various nutrients. # GO_component AT1A2_HUMAN GO 0005890 sodium potassium-exchanging ATPase complex; IC UniProtKB. # GO_component GO:0005737 cytoplasm; IDA:UniProtKB. # GO_component GO:0005768 endosome; IEA:Ensembl. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0005901 caveola; IEA:Ensembl. # GO_component GO:0014704 intercalated disc; IEA:Ensembl. # GO_component GO:0016020 membrane; IDA:BHF-UCL. # GO_component GO:0030315 T-tubule; IEA:Ensembl. # GO_component GO:0043197 dendritic spine; IEA:Ensembl. # GO_component GO:0043209 myelin sheath; IEA:Ensembl. # GO_component GO:0043231 intracellular membrane-bounded organelle; IBA:GO_Central. # GO_component GO:1903561 extracellular vesicle; IDA:UniProtKB. # GO_function AT1A2_HUMAN GO 0005391 sodium potassium-exchanging ATPase activity; IMP UniProtKB. # GO_function GO:0005524 ATP binding; IEA:UniProtKB-KW. # GO_function GO:0046872 metal ion binding; IEA:UniProtKB-KW. # GO_function GO:0051087 chaperone binding; IPI:BHF-UCL. # GO_function GO:1990239 steroid hormone binding; IDA:BHF-UCL. # GO_process AT1A2_HUMAN GO 1903280 negative regulation of calcium sodium antiporter activity; ISS BHF-UCL. # GO_process GO:0001504 neurotransmitter uptake; IEA:Ensembl. # GO_process GO:0002026 regulation of the force of heart contraction; IEA:Ensembl. # GO_process GO:0002087 regulation of respiratory gaseous exchange by neurological system process; IEA:Ensembl. # GO_process GO:0006813 potassium ion transport; NAS:UniProtKB. # GO_process GO:0006814 sodium ion transport; NAS:UniProtKB. # GO_process GO:0006883 cellular sodium ion homeostasis; IDA:BHF-UCL. # GO_process GO:0006940 regulation of smooth muscle contraction; IEA:Ensembl. # GO_process GO:0006942 regulation of striated muscle contraction; NAS:UniProtKB. # GO_process GO:0008217 regulation of blood pressure; IEA:Ensembl. # GO_process GO:0008344 adult locomotory behavior; IEA:Ensembl. # GO_process GO:0008542 visual learning; IEA:Ensembl. # GO_process GO:0010107 potassium ion import; IDA:BHF-UCL. # GO_process GO:0010881 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion; TAS:BHF-UCL. # GO_process GO:0015991 ATP hydrolysis coupled proton transport; IBA:GO_Central. # GO_process GO:0019229 regulation of vasoconstriction; IEA:Ensembl. # GO_process GO:0030007 cellular potassium ion homeostasis; IDA:BHF-UCL. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0035094 response to nicotine; IEA:Ensembl. # GO_process GO:0036376 sodium ion export from cell; IDA:BHF-UCL. # GO_process GO:0040011 locomotion; IEA:Ensembl. # GO_process GO:0045822 negative regulation of heart contraction; IEA:Ensembl. # GO_process GO:0045988 negative regulation of striated muscle contraction; IEA:Ensembl. # GO_process GO:0046034 ATP metabolic process; IMP:BHF-UCL. # GO_process GO:0051481 negative regulation of cytosolic calcium ion concentration; IEA:Ensembl. # GO_process GO:0051946 regulation of glutamate uptake involved in transmission of nerve impulse; NAS:BHF-UCL. # GO_process GO:0051966 regulation of synaptic transmission, glutamatergic; NAS:BHF-UCL. # GO_process GO:0055119 relaxation of cardiac muscle; TAS:BHF-UCL. # GO_process GO:0060048 cardiac muscle contraction; TAS:BHF-UCL. # GO_process GO:0071260 cellular response to mechanical stimulus; IEA:Ensembl. # GO_process GO:0071383 cellular response to steroid hormone stimulus; IDA:BHF-UCL. # GO_process GO:0086004 regulation of cardiac muscle cell contraction; IEA:Ensembl. # GO_process GO:0086009 membrane repolarization; TAS:BHF-UCL. # GO_process GO:0086012 membrane depolarization during cardiac muscle cell action potential; TAS:BHF-UCL. # GO_process GO:0086064 cell communication by electrical coupling involved in cardiac conduction; TAS:BHF-UCL. # GO_process GO:1903170 negative regulation of calcium ion transmembrane transport; ISS:BHF-UCL. # GO_process GO:1903416 response to glycoside; ISS:BHF-UCL. # GO_process GO:1903779 regulation of cardiac conduction; TAS:Reactome. # GO_process GO:1990573 potassium ion import across plasma membrane; IC:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005768 endosome # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0008289 lipid binding # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0003013 circulatory system process # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0040011 locomotion # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0044281 small molecule metabolic process # GOslim_process GO:0050877 neurological system process # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.20.1110.10 -; 2. # Gene3D 2.70.150.10 -; 2. # Gene3D 3.40.1110.10 -; 1. # Genevisible P50993 HS # HGNC HGNC:800 ATP1A2 # IntAct P50993 2 # InterPro IPR001757 P_typ_ATPase # InterPro IPR004014 ATPase_P-typ_cation-transptr_N # InterPro IPR005775 P-type_ATPase_IIC # InterPro IPR006068 ATPase_P-typ_cation-transptr_C # InterPro IPR008250 ATPase_P-typ_transduc_dom_A # InterPro IPR018303 ATPase_P-typ_P_site # InterPro IPR023214 HAD-like_dom # InterPro IPR023298 ATPase_P-typ_TM_dom # InterPro IPR023299 ATPase_P-typ_cyto_domN # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko01000 Enzymes # KEGG_Disease H00775 [Nervous system disease] Familial or sporadic hemiplegic migraine # KEGG_Disease H00998 [Nervous system disease] Alternating hemiplegia of childhood # KEGG_Pathway ko04260 Cardiac muscle contraction # KEGG_Pathway ko04960 Aldosterone-regulated sodium reabsorption # KEGG_Pathway ko04961 Endocrine and other factor-regulated calcium reabsorption # KEGG_Pathway ko04964 Proximal tubule bicarbonate reclamation # KEGG_Pathway ko04970 Salivary secretion # KEGG_Pathway ko04971 Gastric acid secretion # KEGG_Pathway ko04972 Pancreatic secretion # KEGG_Pathway ko04973 Carbohydrate digestion and absorption # KEGG_Pathway ko04974 Protein digestion and absorption # KEGG_Pathway ko04976 Bile secretion # KEGG_Pathway ko04978 Mineral absorption # MIM 104290 phenotype # MIM 182340 gene # MIM 602481 phenotype # Organism AT1A2_HUMAN Homo sapiens (Human) # Orphanet 2131 Alternating hemiplegia of childhood # Orphanet 569 Familial or sporadic hemiplegic migraine # PIR A34474 A34474 # PROSITE PS00154 ATPASE_E1_E2 # Pfam PF00122 E1-E2_ATPase # Pfam PF00689 Cation_ATPase_C # Pfam PF00690 Cation_ATPase_N # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-5578775 Ion homeostasis # Reactome R-HSA-936837 Ion transport by P-type ATPases # RecName AT1A2_HUMAN Sodium/potassium-transporting ATPase subunit alpha-2 # RefSeq NP_000693 NM_000702.3 # SEQUENCE CAUTION Sequence=BAA34498.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIC subfamily. {ECO 0000305}. # SMART SM00831 Cation_ATPase_N # SUBCELLULAR LOCATION AT1A2_HUMAN Membrane {ECO 0000269|PubMed 7711835}; Multi-pass membrane protein {ECO 0000269|PubMed 7711835}. Cell membrane {ECO 0000269|PubMed 7711835}; Multi-pass membrane protein {ECO 0000269|PubMed 7711835}. # SUBUNIT Composed of three subunits alpha (catalytic), beta and gamma. # SUPFAM SSF56784 SSF56784; 2 # SUPFAM SSF81660 SSF81660 # TCDB 3.A.3.1 the p-type atpase (p-atpase) superfamily # TIGRFAMs TIGR01106 ATPase-IIC_X-K # TIGRFAMs TIGR01494 ATPase_P-type; 2 # UCSC uc001fvc human # eggNOG COG0474 LUCA # eggNOG KOG0203 Eukaryota BLAST swissprot:AT1A2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:AT1A2_HUMAN BioCyc ZFISH:HS00391-MONOMER http://biocyc.org/getid?id=ZFISH:HS00391-MONOMER COXPRESdb 477 http://coxpresdb.jp/data/gene/477.shtml CleanEx HS_ATP1A2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ATP1A2 DOI 10.1002/ana.10674 http://dx.doi.org/10.1002/ana.10674 DOI 10.1002/ana.20134 http://dx.doi.org/10.1002/ana.20134 DOI 10.1016/0014-5793(87)80677-4 http://dx.doi.org/10.1016/0014-5793(87)80677-4 DOI 10.1016/0014-5793(89)80588-5 http://dx.doi.org/10.1016/0014-5793(89)80588-5 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1038/ng1081 http://dx.doi.org/10.1038/ng1081 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1073/pnas.84.12.4039 http://dx.doi.org/10.1073/pnas.84.12.4039 DOI 10.1093/dnares/5.5.277 http://dx.doi.org/10.1093/dnares/5.5.277 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1526-4610.2010.01793.x http://dx.doi.org/10.1111/j.1526-4610.2010.01793.x DOI 10.1177/0333102413495116 http://dx.doi.org/10.1177/0333102413495116 DOI 10.1177/0333102413498941 http://dx.doi.org/10.1177/0333102413498941 DOI 10.3109/09687689409160435 http://dx.doi.org/10.3109/09687689409160435 EC_number EC:3.6.3.9 http://www.genome.jp/dbget-bin/www_bget?EC:3.6.3.9 EMBL AB018321 http://www.ebi.ac.uk/ena/data/view/AB018321 EMBL AL121987 http://www.ebi.ac.uk/ena/data/view/AL121987 EMBL BC052271 http://www.ebi.ac.uk/ena/data/view/BC052271 EMBL CH471121 http://www.ebi.ac.uk/ena/data/view/CH471121 EMBL CH471121 http://www.ebi.ac.uk/ena/data/view/CH471121 EMBL J05096 http://www.ebi.ac.uk/ena/data/view/J05096 EMBL M16795 http://www.ebi.ac.uk/ena/data/view/M16795 EMBL M27571 http://www.ebi.ac.uk/ena/data/view/M27571 EMBL M27576 http://www.ebi.ac.uk/ena/data/view/M27576 EMBL M27578 http://www.ebi.ac.uk/ena/data/view/M27578 EMBL Y07494 http://www.ebi.ac.uk/ena/data/view/Y07494 ENZYME 3.6.3.9 http://enzyme.expasy.org/EC/3.6.3.9 Ensembl ENST00000361216 http://www.ensembl.org/id/ENST00000361216 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005890 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005890 GO_component GO:0005901 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005901 GO_component GO:0014704 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014704 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0030315 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030315 GO_component GO:0043197 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043197 GO_component GO:0043209 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043209 GO_component GO:0043231 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043231 GO_component GO:1903561 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903561 GO_function GO:0005391 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005391 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0046872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046872 GO_function GO:0051087 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051087 GO_function GO:1990239 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1990239 GO_process GO:0001504 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001504 GO_process GO:0002026 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002026 GO_process GO:0002087 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002087 GO_process GO:0006813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006813 GO_process GO:0006814 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006814 GO_process GO:0006883 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006883 GO_process GO:0006940 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006940 GO_process GO:0006942 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006942 GO_process GO:0008217 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008217 GO_process GO:0008344 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008344 GO_process GO:0008542 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008542 GO_process GO:0010107 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010107 GO_process GO:0010881 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010881 GO_process GO:0015991 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015991 GO_process GO:0019229 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019229 GO_process GO:0030007 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030007 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0035094 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035094 GO_process GO:0036376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0036376 GO_process GO:0040011 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0040011 GO_process GO:0045822 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045822 GO_process GO:0045988 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045988 GO_process GO:0046034 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046034 GO_process GO:0051481 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051481 GO_process GO:0051946 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051946 GO_process GO:0051966 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051966 GO_process GO:0055119 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055119 GO_process GO:0060048 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060048 GO_process GO:0071260 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071260 GO_process GO:0071383 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071383 GO_process GO:0086004 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086004 GO_process GO:0086009 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086009 GO_process GO:0086012 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086012 GO_process GO:0086064 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086064 GO_process GO:1903170 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903170 GO_process GO:1903280 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903280 GO_process GO:1903416 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903416 GO_process GO:1903779 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903779 GO_process GO:1990573 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1990573 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0008289 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008289 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0003013 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003013 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0040011 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0040011 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.20.1110.10 http://www.cathdb.info/version/latest/superfamily/1.20.1110.10 Gene3D 2.70.150.10 http://www.cathdb.info/version/latest/superfamily/2.70.150.10 Gene3D 3.40.1110.10 http://www.cathdb.info/version/latest/superfamily/3.40.1110.10 GeneCards ATP1A2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ATP1A2 GeneID 477 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=477 GeneTree ENSGT00850000132256 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00850000132256 HGNC HGNC:800 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:800 HOGENOM HOG000265622 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000265622&db=HOGENOM6 HOVERGEN HBG004298 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG004298&db=HOVERGEN HPA CAB022230 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB022230 InParanoid P50993 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P50993 IntAct P50993 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P50993* IntEnz 3.6.3.9 http://www.ebi.ac.uk/intenz/query?cmd=Search&q=3.6.3.9 InterPro IPR001757 http://www.ebi.ac.uk/interpro/entry/IPR001757 InterPro IPR004014 http://www.ebi.ac.uk/interpro/entry/IPR004014 InterPro IPR005775 http://www.ebi.ac.uk/interpro/entry/IPR005775 InterPro IPR006068 http://www.ebi.ac.uk/interpro/entry/IPR006068 InterPro IPR008250 http://www.ebi.ac.uk/interpro/entry/IPR008250 InterPro IPR018303 http://www.ebi.ac.uk/interpro/entry/IPR018303 InterPro IPR023214 http://www.ebi.ac.uk/interpro/entry/IPR023214 InterPro IPR023298 http://www.ebi.ac.uk/interpro/entry/IPR023298 InterPro IPR023299 http://www.ebi.ac.uk/interpro/entry/IPR023299 Jabion 477 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=477 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Disease H00775 http://www.genome.jp/dbget-bin/www_bget?H00775 KEGG_Disease H00998 http://www.genome.jp/dbget-bin/www_bget?H00998 KEGG_Gene hsa:477 http://www.genome.jp/dbget-bin/www_bget?hsa:477 KEGG_Orthology KO:K01539 http://www.genome.jp/dbget-bin/www_bget?KO:K01539 KEGG_Pathway ko04260 http://www.genome.jp/kegg-bin/show_pathway?ko04260 KEGG_Pathway ko04960 http://www.genome.jp/kegg-bin/show_pathway?ko04960 KEGG_Pathway ko04961 http://www.genome.jp/kegg-bin/show_pathway?ko04961 KEGG_Pathway ko04964 http://www.genome.jp/kegg-bin/show_pathway?ko04964 KEGG_Pathway ko04970 http://www.genome.jp/kegg-bin/show_pathway?ko04970 KEGG_Pathway ko04971 http://www.genome.jp/kegg-bin/show_pathway?ko04971 KEGG_Pathway ko04972 http://www.genome.jp/kegg-bin/show_pathway?ko04972 KEGG_Pathway ko04973 http://www.genome.jp/kegg-bin/show_pathway?ko04973 KEGG_Pathway ko04974 http://www.genome.jp/kegg-bin/show_pathway?ko04974 KEGG_Pathway ko04976 http://www.genome.jp/kegg-bin/show_pathway?ko04976 KEGG_Pathway ko04978 http://www.genome.jp/kegg-bin/show_pathway?ko04978 MIM 104290 http://www.ncbi.nlm.nih.gov/omim/104290 MIM 182340 http://www.ncbi.nlm.nih.gov/omim/182340 MIM 602481 http://www.ncbi.nlm.nih.gov/omim/602481 OMA MREAFNN http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=MREAFNN Orphanet 2131 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=2131 Orphanet 569 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=569 OrthoDB EOG091G01BB http://cegg.unige.ch/orthodb/results?searchtext=EOG091G01BB PROSITE PS00154 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00154 PSORT swissprot:AT1A2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:AT1A2_HUMAN PSORT-B swissprot:AT1A2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:AT1A2_HUMAN PSORT2 swissprot:AT1A2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:AT1A2_HUMAN Pfam PF00122 http://pfam.xfam.org/family/PF00122 Pfam PF00689 http://pfam.xfam.org/family/PF00689 Pfam PF00690 http://pfam.xfam.org/family/PF00690 PharmGKB PA30796 http://www.pharmgkb.org/do/serve?objId=PA30796&objCls=Gene Phobius swissprot:AT1A2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:AT1A2_HUMAN PhylomeDB P50993 http://phylomedb.org/?seqid=P50993 ProteinModelPortal P50993 http://www.proteinmodelportal.org/query/uniprot/P50993 PubMed 12539047 http://www.ncbi.nlm.nih.gov/pubmed/12539047 PubMed 12953268 http://www.ncbi.nlm.nih.gov/pubmed/12953268 PubMed 15174025 http://www.ncbi.nlm.nih.gov/pubmed/15174025 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 21352219 http://www.ncbi.nlm.nih.gov/pubmed/21352219 PubMed 23838748 http://www.ncbi.nlm.nih.gov/pubmed/23838748 PubMed 23918834 http://www.ncbi.nlm.nih.gov/pubmed/23918834 PubMed 2477373 http://www.ncbi.nlm.nih.gov/pubmed/2477373 PubMed 2537767 http://www.ncbi.nlm.nih.gov/pubmed/2537767 PubMed 3035563 http://www.ncbi.nlm.nih.gov/pubmed/3035563 PubMed 3036582 http://www.ncbi.nlm.nih.gov/pubmed/3036582 PubMed 7711835 http://www.ncbi.nlm.nih.gov/pubmed/7711835 PubMed 9872452 http://www.ncbi.nlm.nih.gov/pubmed/9872452 Reactome R-HSA-5578775 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5578775 Reactome R-HSA-936837 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-936837 RefSeq NP_000693 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000693 SMART SM00831 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00831 SMR P50993 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P50993 STRING 9606.ENSP00000354490 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000354490&targetmode=cogs SUPFAM SSF56784 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF56784 SUPFAM SSF81660 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81660 TCDB 3.A.3.1 http://www.tcdb.org/search/result.php?tc=3.A.3.1 TIGRFAMs TIGR01106 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01106 TIGRFAMs TIGR01494 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01494 UCSC uc001fvc http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001fvc&org=rat UniGene Hs.34114 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.34114 UniProtKB AT1A2_HUMAN http://www.uniprot.org/uniprot/AT1A2_HUMAN UniProtKB-AC P50993 http://www.uniprot.org/uniprot/P50993 charge swissprot:AT1A2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:AT1A2_HUMAN eggNOG COG0474 http://eggnogapi.embl.de/nog_data/html/tree/COG0474 eggNOG KOG0203 http://eggnogapi.embl.de/nog_data/html/tree/KOG0203 epestfind swissprot:AT1A2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:AT1A2_HUMAN garnier swissprot:AT1A2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:AT1A2_HUMAN helixturnhelix swissprot:AT1A2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:AT1A2_HUMAN hmoment swissprot:AT1A2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:AT1A2_HUMAN iep swissprot:AT1A2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:AT1A2_HUMAN inforesidue swissprot:AT1A2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:AT1A2_HUMAN neXtProt NX_P50993 http://www.nextprot.org/db/entry/NX_P50993 octanol swissprot:AT1A2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:AT1A2_HUMAN pepcoil swissprot:AT1A2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:AT1A2_HUMAN pepdigest swissprot:AT1A2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:AT1A2_HUMAN pepinfo swissprot:AT1A2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:AT1A2_HUMAN pepnet swissprot:AT1A2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:AT1A2_HUMAN pepstats swissprot:AT1A2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:AT1A2_HUMAN pepwheel swissprot:AT1A2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:AT1A2_HUMAN pepwindow swissprot:AT1A2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:AT1A2_HUMAN sigcleave swissprot:AT1A2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:AT1A2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS Event=Alternative splicing; Named isoforms=4; Name=1; Synonyms=4b; IsoId=O00305-1; Sequence=Displayed; Name=2; Synonyms=4a; IsoId=O00305-2; Sequence=VSP_000635; Note=Ref.2 (AAL14351) sequence is in conflict in position: 12 D->N. {ECO:0000305}; Name=3; IsoId=O00305-3; Sequence=VSP_043192; Note=No experimental confirmation available.; Name=4; Synonyms=4d; IsoId=O00305-4; Sequence=VSP_043193; Note=Unable to interact with the alpha-1 subunit.; # AltName Calcium channel voltage-dependent subunit beta 4 {ECO 0000305} # BioGrid 107239 8 # CCDS CCDS46426 -. [O00305-1] # CCDS CCDS46427 -. [O00305-3] # CCDS CCDS46428 -. [O00305-2] # CCDS CCDS54409 -. [O00305-4] # ChiTaRS CACNB4 human # DISEASE CACB4_HUMAN Epilepsy, idiopathic generalized 9 (EIG9) [MIM 607682] A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. {ECO 0000269|PubMed 10762541}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. # DISEASE CACB4_HUMAN Episodic ataxia 5 (EA5) [MIM 613855] A disorder characterized by episodes of vertigo and ataxia that last for several hours. Interictal examination show spontaneous downbeat and gaze-evoked nystagmus, mild dysarthria and truncal ataxia. {ECO 0000269|PubMed 10762541}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE CACB4_HUMAN Juvenile myoclonic epilepsy 6 (EJM6) [MIM 607682] A subtype of idiopathic generalized epilepsy. Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. # DrugBank DB00393 Nimodipine # DrugBank DB00421 Spironolactone # DrugBank DB00661 Verapamil # DrugBank DB04855 Dronedarone # Ensembl ENST00000201943 ENSP00000201943; ENSG00000182389. [O00305-4] # Ensembl ENST00000534999 ENSP00000443893; ENSG00000182389. [O00305-2] # Ensembl ENST00000539935 ENSP00000438949; ENSG00000182389. [O00305-1] # Ensembl ENST00000638005 ENSP00000489677; ENSG00000182389. [O00305-3] # ExpressionAtlas O00305 baseline and differential # FUNCTION CACB4_HUMAN The beta subunit of voltage-dependent calcium channels contributes to the function of the calcium channel by increasing peak calcium current, shifting the voltage dependencies of activation and inactivation, modulating G protein inhibition and controlling the alpha-1 subunit membrane targeting. {ECO 0000269|PubMed 11880487}. # GO_component GO:0005829 cytosol; TAS:Reactome. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0005891 voltage-gated calcium channel complex; IDA:UniProtKB. # GO_component GO:0009898 cytoplasmic side of plasma membrane; TAS:UniProtKB. # GO_component GO:0045202 synapse; IDA:UniProtKB. # GO_function GO:0005245 voltage-gated calcium channel activity; IEA:InterPro. # GO_function GO:0005262 calcium channel activity; TAS:Reactome. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0007268 chemical synaptic transmission; IBA:GO_Central. # GO_process GO:0007528 neuromuscular junction development; IBA:GO_Central. # GO_process GO:0051899 membrane depolarization; TAS:Reactome. # GO_process GO:0061337 cardiac conduction; TAS:Reactome. # GO_process GO:0070588 calcium ion transmembrane transport; IEA:GOC. # GO_process GO:1901385 regulation of voltage-gated calcium channel activity; IMP:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005829 cytosol # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # GOslim_process GO:0055085 transmembrane transport # Gene3D 3.40.50.300 -; 1. # Genevisible O00305 HS # HGNC HGNC:1404 CACNB4 # INTERACTION CACB4_HUMAN P21579 SYT1; NbExp=2; IntAct=EBI-714855, EBI-524909; # IntAct O00305 9 # InterPro IPR000584 VDCC_L_bsu # InterPro IPR001452 SH3_domain # InterPro IPR008145 GK/Ca_channel_bsu # InterPro IPR027417 P-loop_NTPase # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00749 [Nervous system disease] Episodic ataxias # KEGG_Disease H00808 [Nervous system disease] Familial infantile myoclonic epilepsy (FIME) # KEGG_Pathway ko04010 MAPK signaling pathway # KEGG_Pathway ko04260 Cardiac muscle contraction # KEGG_Pathway ko05410 Hypertrophic cardiomyopathy (HCM) # KEGG_Pathway ko05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC) # KEGG_Pathway ko05414 Dilated cardiomyopathy # MIM 601949 gene # MIM 607682 phenotype # MIM 613855 phenotype # Organism CACB4_HUMAN Homo sapiens (Human) # Orphanet 211067 Episodic ataxia type 5 # Orphanet 307 Juvenile myoclonic epilepsy # PANTHER PTHR11824 PTHR11824 # PDB 1VYV X-ray; 3.00 A; A/B=254-408 # PDB 2D46 NMR; -; A=50-92 # PRINTS PR01626 LCACHANNELB # PROSITE PS50002 SH3 # Pfam PF00625 Guanylate_kin # Pfam PF12052 VGCC_beta4Aa_N # Proteomes UP000005640 Chromosome 2 # Reactome R-HSA-112308 Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels # Reactome R-HSA-419037 NCAM1 interactions # Reactome R-HSA-5576892 Phase 0 - rapid depolarisation # Reactome R-HSA-5576893 Phase 2 - plateau phase # Reactome R-HSA-5576894 Phase 1 - inactivation of fast Na+ channels # RecName Voltage-dependent L-type calcium channel subunit beta-4 {ECO 0000305} # RefSeq NP_000717 NM_000726.4. [O00305-1] # RefSeq NP_001005746 NM_001005746.3. [O00305-3] # RefSeq NP_001005747 NM_001005747.3. [O00305-2] # RefSeq NP_001139270 NM_001145798.2. [O00305-4] # RefSeq NP_001307651 NM_001320722.2 # SIMILARITY Belongs to the calcium channel beta subunit family. {ECO 0000305}. # SIMILARITY Contains 1 SH3 domain. {ECO:0000255|PROSITE- ProRule PRU00192}. # SMART SM00072 GuKc # SUBUNIT CACB4_HUMAN The L-type calcium channel is composed of four subunits alpha-1, alpha-2, beta and gamma (PubMed 11880487). Interacts with FASLG (PubMed 19807924). Interacts with CBARP (By similarity). {ECO 0000250|UniProtKB Q8R0S4, ECO 0000269|PubMed 11880487, ECO 0000269|PubMed 19807924}. # SUPFAM SSF50044 SSF50044 # SUPFAM SSF52540 SSF52540 # TCDB 8.A.22.1 the ca(2+) channel auxiliary subunit types 1-4 (cca-) family # TISSUE SPECIFICITY CACB4_HUMAN Expressed predominantly in the cerebellum and kidney. # UCSC uc002txy human. [O00305-1] # eggNOG ENOG410XRDI LUCA # eggNOG KOG3812 Eukaryota BLAST swissprot:CACB4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CACB4_HUMAN BioCyc ZFISH:G66-33642-MONOMER http://biocyc.org/getid?id=ZFISH:G66-33642-MONOMER COXPRESdb 785 http://coxpresdb.jp/data/gene/785.shtml CleanEx HS_CACNB4 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CACNB4 DOI 10.1006/geno.1998.5311 http://dx.doi.org/10.1006/geno.1998.5311 DOI 10.1007/s004390050482 http://dx.doi.org/10.1007/s004390050482 DOI 10.1016/j.bbrc.2007.06.112 http://dx.doi.org/10.1016/j.bbrc.2007.06.112 DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1086/302909 http://dx.doi.org/10.1086/302909 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1110/ps.051894506 http://dx.doi.org/10.1110/ps.051894506 DOI 10.1186/1471-2172-10-53 http://dx.doi.org/10.1186/1471-2172-10-53 DrugBank DB00393 http://www.drugbank.ca/drugs/DB00393 DrugBank DB00421 http://www.drugbank.ca/drugs/DB00421 DrugBank DB00661 http://www.drugbank.ca/drugs/DB00661 DrugBank DB04855 http://www.drugbank.ca/drugs/DB04855 EMBL AB302276 http://www.ebi.ac.uk/ena/data/view/AB302276 EMBL AC068547 http://www.ebi.ac.uk/ena/data/view/AC068547 EMBL AC079790 http://www.ebi.ac.uk/ena/data/view/AC079790 EMBL AC097448 http://www.ebi.ac.uk/ena/data/view/AC097448 EMBL AF038852 http://www.ebi.ac.uk/ena/data/view/AF038852 EMBL AK290049 http://www.ebi.ac.uk/ena/data/view/AK290049 EMBL AK294398 http://www.ebi.ac.uk/ena/data/view/AK294398 EMBL AK316045 http://www.ebi.ac.uk/ena/data/view/AK316045 EMBL AY054985 http://www.ebi.ac.uk/ena/data/view/AY054985 EMBL BC075049 http://www.ebi.ac.uk/ena/data/view/BC075049 EMBL CH471058 http://www.ebi.ac.uk/ena/data/view/CH471058 EMBL U95020 http://www.ebi.ac.uk/ena/data/view/U95020 Ensembl ENST00000201943 http://www.ensembl.org/id/ENST00000201943 Ensembl ENST00000534999 http://www.ensembl.org/id/ENST00000534999 Ensembl ENST00000539935 http://www.ensembl.org/id/ENST00000539935 Ensembl ENST00000638005 http://www.ensembl.org/id/ENST00000638005 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005891 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005891 GO_component GO:0009898 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009898 GO_component GO:0045202 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045202 GO_function GO:0005245 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005245 GO_function GO:0005262 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005262 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0007268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007268 GO_process GO:0007528 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007528 GO_process GO:0051899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051899 GO_process GO:0061337 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061337 GO_process GO:0070588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070588 GO_process GO:1901385 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1901385 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 3.40.50.300 http://www.cathdb.info/version/latest/superfamily/3.40.50.300 GeneCards CACNB4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CACNB4 GeneID 785 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=785 GeneTree ENSGT00390000002740 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000002740 HGNC HGNC:1404 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:1404 HOGENOM HOG000230979 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000230979&db=HOGENOM6 HOVERGEN HBG050765 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050765&db=HOVERGEN HPA HPA015601 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA015601 InParanoid O00305 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O00305 IntAct O00305 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O00305* InterPro IPR000584 http://www.ebi.ac.uk/interpro/entry/IPR000584 InterPro IPR001452 http://www.ebi.ac.uk/interpro/entry/IPR001452 InterPro IPR008145 http://www.ebi.ac.uk/interpro/entry/IPR008145 InterPro IPR027417 http://www.ebi.ac.uk/interpro/entry/IPR027417 Jabion 785 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=785 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00749 http://www.genome.jp/dbget-bin/www_bget?H00749 KEGG_Disease H00808 http://www.genome.jp/dbget-bin/www_bget?H00808 KEGG_Gene hsa:785 http://www.genome.jp/dbget-bin/www_bget?hsa:785 KEGG_Orthology KO:K04865 http://www.genome.jp/dbget-bin/www_bget?KO:K04865 KEGG_Pathway ko04010 http://www.genome.jp/kegg-bin/show_pathway?ko04010 KEGG_Pathway ko04260 http://www.genome.jp/kegg-bin/show_pathway?ko04260 KEGG_Pathway ko05410 http://www.genome.jp/kegg-bin/show_pathway?ko05410 KEGG_Pathway ko05412 http://www.genome.jp/kegg-bin/show_pathway?ko05412 KEGG_Pathway ko05414 http://www.genome.jp/kegg-bin/show_pathway?ko05414 MIM 601949 http://www.ncbi.nlm.nih.gov/omim/601949 MIM 607682 http://www.ncbi.nlm.nih.gov/omim/607682 MIM 613855 http://www.ncbi.nlm.nih.gov/omim/613855 MINT MINT-1418672 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1418672 OMA SYQDSYK http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=SYQDSYK Orphanet 211067 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=211067 Orphanet 307 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=307 OrthoDB EOG091G09C1 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G09C1 PANTHER PTHR11824 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11824 PDB 1VYV http://www.ebi.ac.uk/pdbe-srv/view/entry/1VYV PDB 2D46 http://www.ebi.ac.uk/pdbe-srv/view/entry/2D46 PDBsum 1VYV http://www.ebi.ac.uk/pdbsum/1VYV PDBsum 2D46 http://www.ebi.ac.uk/pdbsum/2D46 PRINTS PR01626 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01626 PROSITE PS50002 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50002 PSORT swissprot:CACB4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CACB4_HUMAN PSORT-B swissprot:CACB4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CACB4_HUMAN PSORT2 swissprot:CACB4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CACB4_HUMAN Pfam PF00625 http://pfam.xfam.org/family/PF00625 Pfam PF12052 http://pfam.xfam.org/family/PF12052 PharmGKB PA26014 http://www.pharmgkb.org/do/serve?objId=PA26014&objCls=Gene Phobius swissprot:CACB4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CACB4_HUMAN PhylomeDB O00305 http://phylomedb.org/?seqid=O00305 ProteinModelPortal O00305 http://www.proteinmodelportal.org/query/uniprot/O00305 PubMed 10762541 http://www.ncbi.nlm.nih.gov/pubmed/10762541 PubMed 11880487 http://www.ncbi.nlm.nih.gov/pubmed/11880487 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 PubMed 16385006 http://www.ncbi.nlm.nih.gov/pubmed/16385006 PubMed 17618603 http://www.ncbi.nlm.nih.gov/pubmed/17618603 PubMed 19807924 http://www.ncbi.nlm.nih.gov/pubmed/19807924 PubMed 9254841 http://www.ncbi.nlm.nih.gov/pubmed/9254841 PubMed 9628818 http://www.ncbi.nlm.nih.gov/pubmed/9628818 Reactome R-HSA-112308 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-112308 Reactome R-HSA-419037 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-419037 Reactome R-HSA-5576892 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576892 Reactome R-HSA-5576893 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576893 Reactome R-HSA-5576894 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576894 RefSeq NP_000717 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000717 RefSeq NP_001005746 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001005746 RefSeq NP_001005747 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001005747 RefSeq NP_001139270 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001139270 RefSeq NP_001307651 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001307651 SMART SM00072 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00072 SMR O00305 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=O00305 STRING 9606.ENSP00000438949 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000438949&targetmode=cogs SUPFAM SSF50044 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF50044 SUPFAM SSF52540 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52540 TCDB 8.A.22.1 http://www.tcdb.org/search/result.php?tc=8.A.22.1 UCSC uc002txy http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002txy&org=rat UniGene Hs.120725 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.120725 UniProtKB CACB4_HUMAN http://www.uniprot.org/uniprot/CACB4_HUMAN UniProtKB-AC O00305 http://www.uniprot.org/uniprot/O00305 charge swissprot:CACB4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CACB4_HUMAN eggNOG ENOG410XRDI http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XRDI eggNOG KOG3812 http://eggnogapi.embl.de/nog_data/html/tree/KOG3812 epestfind swissprot:CACB4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CACB4_HUMAN garnier swissprot:CACB4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CACB4_HUMAN helixturnhelix swissprot:CACB4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CACB4_HUMAN hmoment swissprot:CACB4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CACB4_HUMAN iep swissprot:CACB4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CACB4_HUMAN inforesidue swissprot:CACB4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CACB4_HUMAN neXtProt NX_O00305 http://www.nextprot.org/db/entry/NX_O00305 octanol swissprot:CACB4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CACB4_HUMAN pepcoil swissprot:CACB4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CACB4_HUMAN pepdigest swissprot:CACB4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CACB4_HUMAN pepinfo swissprot:CACB4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CACB4_HUMAN pepnet swissprot:CACB4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CACB4_HUMAN pepstats swissprot:CACB4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CACB4_HUMAN pepwheel swissprot:CACB4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CACB4_HUMAN pepwindow swissprot:CACB4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CACB4_HUMAN sigcleave swissprot:CACB4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CACB4_HUMAN ## Database ID URL or Descriptions # AltName MPRD_HUMAN 46 kDa mannose 6-phosphate receptor # BioGrid 110251 24 # DOMAIN MPRD_HUMAN The extracellular domain is homologous to the repeating units (of approximately 147 AA) of the cation-independent mannose 6-phosphate receptor. # DrugBank DB01272 Alglucosidase alfa # Ensembl ENST00000000412 ENSP00000000412; ENSG00000003056 # ExpressionAtlas P20645 baseline and differential # FUNCTION MPRD_HUMAN Transport of phosphorylated lysosomal enzymes from the Golgi complex and the cell surface to lysosomes. Lysosomal enzymes bearing phosphomannosyl residues bind specifically to mannose-6- phosphate receptors in the Golgi apparatus and the resulting receptor-ligand complex is transported to an acidic prelyosomal compartment where the low pH mediates the dissociation of the complex. # GO_component GO:0005765 lysosomal membrane; IEA:UniProtKB-SubCell. # GO_component GO:0005768 endosome; IDA:MGI. # GO_component GO:0005770 late endosome; IEA:Ensembl. # GO_component GO:0005802 trans-Golgi network; IBA:GO_Central. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0030133 transport vesicle; TAS:Reactome. # GO_component GO:0032588 trans-Golgi network membrane; TAS:Reactome. # GO_component GO:0048471 perinuclear region of cytoplasm; IDA:UniProtKB. # GO_function GO:0004888 transmembrane signaling receptor activity; TAS:ProtInc. # GO_function GO:0005537 mannose binding; IEA:InterPro. # GO_function GO:0015578 mannose transmembrane transporter activity; IEA:InterPro. # GO_function GO:1905394 retromer complex binding; IMP:ParkinsonsUK-UCL. # GO_process GO:0006898 receptor-mediated endocytosis; TAS:ProtInc. # GO_process GO:0008333 endosome to lysosome transport; TAS:ProtInc. # GO_process GO:0033299 secretion of lysosomal enzymes; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005768 endosome # GOslim_component GO:0031410 cytoplasmic vesicle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007034 vacuolar transport # GOslim_process GO:0016192 vesicle-mediated transport # Gene3D 2.70.130.10 -; 1. # Genevisible P20645 HS # HGNC HGNC:6752 M6PR # IntAct P20645 5 # InterPro IPR000296 Man_6_P_rcpt # InterPro IPR009011 Man6P_isomerase_rcpt-bd_dom # InterPro IPR028927 Man-6-P_rcpt # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04091 Glycan binding proteins # KEGG_Pathway ko04142 Lysosome # KEGG_Pathway ko04145 Phagosome # MIM 154540 gene # MISCELLANEOUS MPRD_HUMAN This receptor has optimal binding in the presence of divalent cations. # Organism MPRD_HUMAN Homo sapiens (Human) # PDB 1JUQ X-ray; 2.20 A; E/F/G/H=265-277 # PIR S15368 A32700 # PRINTS PR00715 MAN6PRECEPTR # Pfam PF02157 Man-6-P_recep # Proteomes UP000005640 Chromosome 12 # Reactome R-HSA-432720 Lysosome Vesicle Biogenesis # Reactome R-HSA-6811440 Retrograde transport at the Trans-Golgi-Network # Reactome R-HSA-8856825 Cargo recognition for clathrin-mediated endocytosis # Reactome R-HSA-8856828 Clathrin-mediated endocytosis # RecName MPRD_HUMAN Cation-dependent mannose-6-phosphate receptor # RefSeq NP_002346 NM_002355.3 # RefSeq XP_005253433 XM_005253376.2 # SUBCELLULAR LOCATION MPRD_HUMAN Lysosome membrane; Single-pass type I membrane protein. # SUBUNIT MPRD_HUMAN Homodimer. Binds GGA1, GGA2 and GGA3. # SUPFAM SSF50911 SSF50911 # UCSC uc001qvf human # eggNOG ENOG410IK0D Eukaryota # eggNOG ENOG4111GED LUCA BLAST swissprot:MPRD_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:MPRD_HUMAN BioCyc ZFISH:ENSG00000003056-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000003056-MONOMER COXPRESdb 4074 http://coxpresdb.jp/data/gene/4074.shtml CleanEx HS_M6PR http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_M6PR DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/pr8008012 http://dx.doi.org/10.1021/pr8008012 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1073/pnas.84.16.5575 http://dx.doi.org/10.1073/pnas.84.16.5575 DOI 10.1074/jbc.M201879200 http://dx.doi.org/10.1074/jbc.M201879200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1432-1033.1991.tb15877.x http://dx.doi.org/10.1111/j.1432-1033.1991.tb15877.x DOI 10.1126/science.1060750 http://dx.doi.org/10.1126/science.1060750 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DrugBank DB01272 http://www.drugbank.ca/drugs/DB01272 EMBL AK291143 http://www.ebi.ac.uk/ena/data/view/AK291143 EMBL BC024206 http://www.ebi.ac.uk/ena/data/view/BC024206 EMBL CH471116 http://www.ebi.ac.uk/ena/data/view/CH471116 EMBL CH471116 http://www.ebi.ac.uk/ena/data/view/CH471116 EMBL CH471116 http://www.ebi.ac.uk/ena/data/view/CH471116 EMBL CH471116 http://www.ebi.ac.uk/ena/data/view/CH471116 EMBL M16985 http://www.ebi.ac.uk/ena/data/view/M16985 EMBL X56254 http://www.ebi.ac.uk/ena/data/view/X56254 EMBL X56255 http://www.ebi.ac.uk/ena/data/view/X56255 EMBL X56256 http://www.ebi.ac.uk/ena/data/view/X56256 EMBL X56257 http://www.ebi.ac.uk/ena/data/view/X56257 Ensembl ENST00000000412 http://www.ensembl.org/id/ENST00000000412 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005765 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005765 GO_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GO_component GO:0005770 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005770 GO_component GO:0005802 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005802 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0030133 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030133 GO_component GO:0032588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032588 GO_component GO:0048471 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048471 GO_function GO:0004888 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004888 GO_function GO:0005537 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005537 GO_function GO:0015578 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015578 GO_function GO:1905394 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1905394 GO_process GO:0006898 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006898 GO_process GO:0008333 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008333 GO_process GO:0033299 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033299 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GOslim_component GO:0031410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007034 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007034 GOslim_process GO:0016192 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016192 Gene3D 2.70.130.10 http://www.cathdb.info/version/latest/superfamily/2.70.130.10 GeneCards M6PR http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=M6PR GeneID 4074 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=4074 GeneTree ENSGT00390000002109 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000002109 HGNC HGNC:6752 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6752 HOGENOM HOG000013085 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000013085&db=HOGENOM6 HOVERGEN HBG006395 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG006395&db=HOVERGEN HPA CAB034464 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB034464 HPA HPA040445 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA040445 InParanoid P20645 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P20645 IntAct P20645 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P20645* InterPro IPR000296 http://www.ebi.ac.uk/interpro/entry/IPR000296 InterPro IPR009011 http://www.ebi.ac.uk/interpro/entry/IPR009011 InterPro IPR028927 http://www.ebi.ac.uk/interpro/entry/IPR028927 Jabion 4074 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=4074 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04091 http://www.genome.jp/dbget-bin/www_bget?ko04091 KEGG_Gene hsa:4074 http://www.genome.jp/dbget-bin/www_bget?hsa:4074 KEGG_Orthology KO:K10089 http://www.genome.jp/dbget-bin/www_bget?KO:K10089 KEGG_Pathway ko04142 http://www.genome.jp/kegg-bin/show_pathway?ko04142 KEGG_Pathway ko04145 http://www.genome.jp/kegg-bin/show_pathway?ko04145 MIM 154540 http://www.ncbi.nlm.nih.gov/omim/154540 MINT MINT-4999970 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-4999970 OMA INETQVF http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=INETQVF OrthoDB EOG091G0WP5 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0WP5 PDB 1JUQ http://www.ebi.ac.uk/pdbe-srv/view/entry/1JUQ PDBsum 1JUQ http://www.ebi.ac.uk/pdbsum/1JUQ PRINTS PR00715 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00715 PSORT swissprot:MPRD_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:MPRD_HUMAN PSORT-B swissprot:MPRD_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:MPRD_HUMAN PSORT2 swissprot:MPRD_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:MPRD_HUMAN Pfam PF02157 http://pfam.xfam.org/family/PF02157 PharmGKB PA30513 http://www.pharmgkb.org/do/serve?objId=PA30513&objCls=Gene Phobius swissprot:MPRD_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:MPRD_HUMAN PhylomeDB P20645 http://phylomedb.org/?seqid=P20645 ProteinModelPortal P20645 http://www.proteinmodelportal.org/query/uniprot/P20645 PubMed 11387475 http://www.ncbi.nlm.nih.gov/pubmed/11387475 PubMed 11886874 http://www.ncbi.nlm.nih.gov/pubmed/11886874 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 1849818 http://www.ncbi.nlm.nih.gov/pubmed/1849818 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 19159218 http://www.ncbi.nlm.nih.gov/pubmed/19159218 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 2441386 http://www.ncbi.nlm.nih.gov/pubmed/2441386 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 Reactome R-HSA-432720 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-432720 Reactome R-HSA-6811440 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6811440 Reactome R-HSA-8856825 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-8856825 Reactome R-HSA-8856828 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-8856828 RefSeq NP_002346 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_002346 RefSeq XP_005253433 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005253433 SMR P20645 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P20645 STRING 9606.ENSP00000000412 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000000412&targetmode=cogs SUPFAM SSF50911 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF50911 UCSC uc001qvf http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001qvf&org=rat UniGene Hs.134084 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.134084 UniGene Hs.744902 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.744902 UniProtKB MPRD_HUMAN http://www.uniprot.org/uniprot/MPRD_HUMAN UniProtKB-AC P20645 http://www.uniprot.org/uniprot/P20645 charge swissprot:MPRD_HUMAN http://rest.g-language.org/emboss/charge/swissprot:MPRD_HUMAN eggNOG ENOG410IK0D http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IK0D eggNOG ENOG4111GED http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111GED epestfind swissprot:MPRD_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:MPRD_HUMAN garnier swissprot:MPRD_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:MPRD_HUMAN helixturnhelix swissprot:MPRD_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:MPRD_HUMAN hmoment swissprot:MPRD_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:MPRD_HUMAN iep swissprot:MPRD_HUMAN http://rest.g-language.org/emboss/iep/swissprot:MPRD_HUMAN inforesidue swissprot:MPRD_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:MPRD_HUMAN neXtProt NX_P20645 http://www.nextprot.org/db/entry/NX_P20645 octanol swissprot:MPRD_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:MPRD_HUMAN pepcoil swissprot:MPRD_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:MPRD_HUMAN pepdigest swissprot:MPRD_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:MPRD_HUMAN pepinfo swissprot:MPRD_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:MPRD_HUMAN pepnet swissprot:MPRD_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:MPRD_HUMAN pepstats swissprot:MPRD_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:MPRD_HUMAN pepwheel swissprot:MPRD_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:MPRD_HUMAN pepwindow swissprot:MPRD_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:MPRD_HUMAN sigcleave swissprot:MPRD_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:MPRD_HUMAN ## Database ID URL or Descriptions # AltName HCN1_HUMAN Brain cyclic nucleotide-gated channel 1 # BioGrid 131543 5 # ChiTaRS HCN1 human # DISEASE HCN1_HUMAN Epileptic encephalopathy, early infantile, 24 (EIEE24) [MIM 615871] A disease characterized by early-onset seizures, intellectual disability of varying degrees, and behavioral disturbances or autistic features in most individuals. {ECO 0000269|PubMed 24747641}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DOMAIN HCN1_HUMAN The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position. # ENZYME REGULATION Activated by cAMP, and at 10-100 times higher concentrations, also by cGMP. cAMP binding promotes tetramerization and formation of an active channel. Compared to other family members, cAMP has less stimulatory effect on HCN1 because part of the molecules already contain bound cAMP and form homotetramers when cAMP levels are low. Inhibited by Cs(1+), zatebradine, capsazepine and ZD7288. {ECO:0000269|PubMed 15351778}. # Ensembl ENST00000303230 ENSP00000307342; ENSG00000164588 # ExpressionAtlas O60741 baseline and differential # FUNCTION HCN1_HUMAN Hyperpolarization-activated ion channel exhibiting weak selectivity for potassium over sodium ions. Contributes to the native pacemaker currents in heart (If) and in neurons (Ih). May mediate responses to sour stimuli. {ECO 0000269|PubMed 15351778}. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0005887 integral component of plasma membrane; ISS:UniProtKB. # GO_component GO:0016021 integral component of membrane; NAS:UniProtKB. # GO_component GO:0030424 axon; IEA:Ensembl. # GO_component GO:0030425 dendrite; IEA:Ensembl. # GO_function GO:0005222 intracellular cAMP activated cation channel activity; ISS:UniProtKB. # GO_function GO:0005248 voltage-gated sodium channel activity; IMP:UniProtKB. # GO_function GO:0005249 voltage-gated potassium channel activity; IMP:UniProtKB. # GO_function GO:0005267 potassium channel activity; NAS:UniProtKB. # GO_function GO:0030552 cAMP binding; ISS:UniProtKB. # GO_process GO:0006813 potassium ion transport; NAS:UniProtKB. # GO_process GO:0035725 sodium ion transmembrane transport; IMP:UniProtKB. # GO_process GO:0042391 regulation of membrane potential; IMP:UniProtKB. # GO_process GO:0045176 apical protein localization; IEA:Ensembl. # GO_process GO:0046549 retinal cone cell development; IEA:Ensembl. # GO_process GO:0071320 cellular response to cAMP; IDA:UniProtKB. # GO_process GO:0071805 potassium ion transmembrane transport; IMP:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0055085 transmembrane transport # Gene3D 2.60.120.10 -; 1. # Genevisible O60741 HS # HGNC HGNC:4845 HCN1 # InterPro IPR000595 cNMP-bd_dom # InterPro IPR003938 K_chnl_volt-dep_EAG/ELK/ERG # InterPro IPR005821 Ion_trans_dom # InterPro IPR013621 Ion_trans_N # InterPro IPR014710 RmlC-like_jellyroll # InterPro IPR018488 cNMP-bd_CS # InterPro IPR018490 cNMP-bd-like # InterPro IPR030169 K/Na_HCN1 # KEGG_Brite ko04040 Ion channels # MIM 602780 gene # MIM 615871 phenotype # Organism HCN1_HUMAN Homo sapiens (Human) # Orphanet 1934 Early infantile epileptic encephalopathy # PANTHER PTHR10217:SF373 PTHR10217:SF373 # PRINTS PR01463 EAGCHANLFMLY # PROSITE PS00888 CNMP_BINDING_1 # PROSITE PS50042 CNMP_BINDING_3 # Pfam PF00027 cNMP_binding # Pfam PF00520 Ion_trans # Pfam PF08412 Ion_trans_N # Proteomes UP000005640 Chromosome 5 # Reactome R-HSA-1296061 HCN channels # RecName HCN1_HUMAN Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1 # RefSeq NP_066550 NM_021072.3 # SEQUENCE CAUTION Sequence=AAC39759.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the potassium channel HCN family. {ECO 0000305}. # SIMILARITY Contains 1 cyclic nucleotide-binding domain. {ECO:0000255|PROSITE-ProRule PRU00060}. # SMART SM00100 cNMP # SUBCELLULAR LOCATION HCN1_HUMAN Cell membrane {ECO 0000269|PubMed 15351778}; Multi-pass membrane protein {ECO 0000269|PubMed 15351778}. # SUBUNIT Homotetramer. Heterotetramer with HCN2. The potassium channel is composed of a homo- or heterotetrameric complex of pore-forming subunits. Interacts with KCNE2. Interacts with the SH3 domain of CSK (By similarity). {ECO 0000250}. # SUPFAM SSF51206 SSF51206 # TISSUE SPECIFICITY Detected in brain, in particular in amygdala and hippocampus, while expression in caudate nucleus, corpus callosum, substantia nigra, subthalamic nucleus and thalamus is very low or not detectable. Detected at very low levels in muscle and pancreas. {ECO:0000269|PubMed 9630217}. # UCSC uc003jok human # eggNOG ENOG410XPSE LUCA # eggNOG KOG0498 Eukaryota BLAST swissprot:HCN1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:HCN1_HUMAN BioCyc ZFISH:ENSG00000164588-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000164588-MONOMER COXPRESdb 348980 http://coxpresdb.jp/data/gene/348980.shtml CleanEx HS_HCN1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_HCN1 DIP DIP-62038N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-62038N DOI 10.1016/S0092-8674(00)81434-8 http://dx.doi.org/10.1016/S0092-8674(00)81434-8 DOI 10.1038/nature02919 http://dx.doi.org/10.1038/nature02919 DOI 10.1038/ng.2952 http://dx.doi.org/10.1038/ng.2952 DOI 10.1038/sj.bjp.0705945 http://dx.doi.org/10.1038/sj.bjp.0705945 EMBL AC099514 http://www.ebi.ac.uk/ena/data/view/AC099514 EMBL AC114975 http://www.ebi.ac.uk/ena/data/view/AC114975 EMBL AC117529 http://www.ebi.ac.uk/ena/data/view/AC117529 EMBL AC138520 http://www.ebi.ac.uk/ena/data/view/AC138520 EMBL AF064876 http://www.ebi.ac.uk/ena/data/view/AF064876 Ensembl ENST00000303230 http://www.ensembl.org/id/ENST00000303230 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0030424 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030424 GO_component GO:0030425 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030425 GO_function GO:0005222 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005222 GO_function GO:0005248 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005248 GO_function GO:0005249 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005249 GO_function GO:0005267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005267 GO_function GO:0030552 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030552 GO_process GO:0006813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006813 GO_process GO:0035725 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035725 GO_process GO:0042391 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042391 GO_process GO:0045176 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045176 GO_process GO:0046549 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046549 GO_process GO:0071320 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071320 GO_process GO:0071805 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071805 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 2.60.120.10 http://www.cathdb.info/version/latest/superfamily/2.60.120.10 GeneCards HCN1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=HCN1 GeneID 348980 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=348980 GeneTree ENSGT00760000118772 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118772 H-InvDB HIX0004850 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0004850 HGNC HGNC:4845 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:4845 HOGENOM HOG000230717 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000230717&db=HOGENOM6 HOVERGEN HBG039489 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG039489&db=HOVERGEN HPA HPA019195 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA019195 InParanoid O60741 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O60741 InterPro IPR000595 http://www.ebi.ac.uk/interpro/entry/IPR000595 InterPro IPR003938 http://www.ebi.ac.uk/interpro/entry/IPR003938 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR013621 http://www.ebi.ac.uk/interpro/entry/IPR013621 InterPro IPR014710 http://www.ebi.ac.uk/interpro/entry/IPR014710 InterPro IPR018488 http://www.ebi.ac.uk/interpro/entry/IPR018488 InterPro IPR018490 http://www.ebi.ac.uk/interpro/entry/IPR018490 InterPro IPR030169 http://www.ebi.ac.uk/interpro/entry/IPR030169 Jabion 348980 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=348980 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:348980 http://www.genome.jp/dbget-bin/www_bget?hsa:348980 KEGG_Orthology KO:K04954 http://www.genome.jp/dbget-bin/www_bget?KO:K04954 MIM 602780 http://www.ncbi.nlm.nih.gov/omim/602780 MIM 615871 http://www.ncbi.nlm.nih.gov/omim/615871 OMA EVHRSTQ http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=EVHRSTQ Orphanet 1934 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1934 OrthoDB EOG091G0JQU http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0JQU PANTHER PTHR10217:SF373 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10217:SF373 PRINTS PR01463 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01463 PROSITE PS00888 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00888 PROSITE PS50042 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50042 PSORT swissprot:HCN1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:HCN1_HUMAN PSORT-B swissprot:HCN1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:HCN1_HUMAN PSORT2 swissprot:HCN1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:HCN1_HUMAN Pfam PF00027 http://pfam.xfam.org/family/PF00027 Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF08412 http://pfam.xfam.org/family/PF08412 PharmGKB PA77 http://www.pharmgkb.org/do/serve?objId=PA77&objCls=Gene Phobius swissprot:HCN1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:HCN1_HUMAN PhylomeDB O60741 http://phylomedb.org/?seqid=O60741 ProteinModelPortal O60741 http://www.proteinmodelportal.org/query/uniprot/O60741 PubMed 15351778 http://www.ncbi.nlm.nih.gov/pubmed/15351778 PubMed 15372022 http://www.ncbi.nlm.nih.gov/pubmed/15372022 PubMed 24747641 http://www.ncbi.nlm.nih.gov/pubmed/24747641 PubMed 9630217 http://www.ncbi.nlm.nih.gov/pubmed/9630217 Reactome R-HSA-1296061 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1296061 RefSeq NP_066550 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_066550 SMART SM00100 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00100 SMR O60741 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=O60741 STRING 9606.ENSP00000307342 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000307342&targetmode=cogs SUPFAM SSF51206 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF51206 UCSC uc003jok http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003jok&org=rat UniGene Hs.353176 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.353176 UniProtKB HCN1_HUMAN http://www.uniprot.org/uniprot/HCN1_HUMAN UniProtKB-AC O60741 http://www.uniprot.org/uniprot/O60741 charge swissprot:HCN1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:HCN1_HUMAN eggNOG ENOG410XPSE http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XPSE eggNOG KOG0498 http://eggnogapi.embl.de/nog_data/html/tree/KOG0498 epestfind swissprot:HCN1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:HCN1_HUMAN garnier swissprot:HCN1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:HCN1_HUMAN helixturnhelix swissprot:HCN1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:HCN1_HUMAN hmoment swissprot:HCN1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:HCN1_HUMAN iep swissprot:HCN1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:HCN1_HUMAN inforesidue swissprot:HCN1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:HCN1_HUMAN neXtProt NX_O60741 http://www.nextprot.org/db/entry/NX_O60741 octanol swissprot:HCN1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:HCN1_HUMAN pepcoil swissprot:HCN1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:HCN1_HUMAN pepdigest swissprot:HCN1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:HCN1_HUMAN pepinfo swissprot:HCN1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:HCN1_HUMAN pepnet swissprot:HCN1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:HCN1_HUMAN pepstats swissprot:HCN1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:HCN1_HUMAN pepwheel swissprot:HCN1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:HCN1_HUMAN pepwindow swissprot:HCN1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:HCN1_HUMAN sigcleave swissprot:HCN1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:HCN1_HUMAN ## Database ID URL or Descriptions # AltName AQP6_HUMAN Aquaporin-2-like # AltName AQP6_HUMAN Kidney-specific aquaporin # CDD cd00333 MIP # DOMAIN AQP6_HUMAN Aquaporins contain two tandem repeats each containing three membrane-spanning domains and a pore-forming loop with the signature motif Asn-Pro-Ala (NPA). # Ensembl ENST00000315520 ENSP00000320247; ENSG00000086159 # Ensembl ENST00000615425 ENSP00000477688; ENSG00000086159 # ExpressionAtlas Q13520 baseline and differential # FUNCTION AQP6_HUMAN Forms a water-specific channel that participates in distinct physiological functions such as glomerular filtration, tubular endocytosis and acid-base metabolism. {ECO 0000250}. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0016324 apical plasma membrane; IBA:GO_Central. # GO_component GO:0030658 transport vesicle membrane; TAS:Reactome. # GO_function GO:0005253 anion channel activity; EXP:Reactome. # GO_function GO:0015112 nitrate transmembrane transporter activity; IEA:Ensembl. # GO_function GO:0015250 water channel activity; TAS:ProtInc. # GO_function GO:0015254 glycerol channel activity; IBA:GO_Central. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0006833 water transport; TAS:Reactome. # GO_process GO:0007588 excretion; TAS:ProtInc. # GO_process GO:0009992 cellular water homeostasis; IBA:GO_Central. # GO_process GO:0042476 odontogenesis; IEP:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # Gene3D 1.20.1080.10 -; 1. # Genevisible Q13520 HS # HGNC HGNC:639 AQP6 # InterPro IPR000425 MIP # InterPro IPR022357 MIP_CS # InterPro IPR023254 Aquaporin_6 # InterPro IPR023271 Aquaporin-like # KEGG_Brite ko04040 Ion channels # MIM 601383 gene # Organism AQP6_HUMAN Homo sapiens (Human) # PANTHER PTHR19139 PTHR19139 # PDB 1S6E Model; -; A=1-282 # PRINTS PR00783 MINTRINSICP # PRINTS PR02018 AQUAPORIN6 # PROSITE PS00221 MIP # Pfam PF00230 MIP # Proteomes UP000005640 Chromosome 12 # Reactome R-HSA-432047 Passive transport by Aquaporins # RecName AQP6_HUMAN Aquaporin-6 # RefSeq NP_001643 NM_001652.3 # SIMILARITY Belongs to the MIP/aquaporin (TC 1.A.8) family. {ECO 0000305}. # SUBCELLULAR LOCATION AQP6_HUMAN Cytoplasmic vesicle membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. # SUPFAM SSF81338 SSF81338 # TCDB 1.A.8.8 the major intrinsic protein (mip) family # TIGRFAMs TIGR00861 MIP # UCSC uc001rvr human # eggNOG COG0580 LUCA # eggNOG KOG0223 Eukaryota BLAST swissprot:AQP6_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:AQP6_HUMAN BioCyc ZFISH:ENSG00000086159-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000086159-MONOMER COXPRESdb 363 http://coxpresdb.jp/data/gene/363.shtml CleanEx HS_AQP6 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_AQP6 DOI 10.1006/geno.1996.0396 http://dx.doi.org/10.1006/geno.1996.0396 DOI 10.1038/nature04569 http://dx.doi.org/10.1038/nature04569 EMBL AC025154 http://www.ebi.ac.uk/ena/data/view/AC025154 EMBL U48408 http://www.ebi.ac.uk/ena/data/view/U48408 Ensembl ENST00000315520 http://www.ensembl.org/id/ENST00000315520 Ensembl ENST00000615425 http://www.ensembl.org/id/ENST00000615425 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:0030658 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030658 GO_function GO:0005253 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005253 GO_function GO:0015112 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015112 GO_function GO:0015250 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015250 GO_function GO:0015254 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015254 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0006833 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006833 GO_process GO:0007588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007588 GO_process GO:0009992 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009992 GO_process GO:0042476 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042476 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 Gene3D 1.20.1080.10 http://www.cathdb.info/version/latest/superfamily/1.20.1080.10 GeneCards AQP6 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=AQP6 GeneID 363 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=363 GeneTree ENSGT00760000119223 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119223 HGNC HGNC:639 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:639 HOGENOM HOG000288286 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000288286&db=HOGENOM6 HOVERGEN HBG000312 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG000312&db=HOVERGEN HPA HPA015278 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA015278 InParanoid Q13520 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q13520 InterPro IPR000425 http://www.ebi.ac.uk/interpro/entry/IPR000425 InterPro IPR022357 http://www.ebi.ac.uk/interpro/entry/IPR022357 InterPro IPR023254 http://www.ebi.ac.uk/interpro/entry/IPR023254 InterPro IPR023271 http://www.ebi.ac.uk/interpro/entry/IPR023271 Jabion 363 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=363 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:363 http://www.genome.jp/dbget-bin/www_bget?hsa:363 KEGG_Orthology KO:K09868 http://www.genome.jp/dbget-bin/www_bget?KO:K09868 MIM 601383 http://www.ncbi.nlm.nih.gov/omim/601383 OMA NSVSIGQ http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=NSVSIGQ OrthoDB EOG091G166T http://cegg.unige.ch/orthodb/results?searchtext=EOG091G166T PANTHER PTHR19139 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR19139 PDB 1S6E http://www.ebi.ac.uk/pdbe-srv/view/entry/1S6E PDBsum 1S6E http://www.ebi.ac.uk/pdbsum/1S6E PRINTS PR00783 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00783 PRINTS PR02018 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR02018 PROSITE PS00221 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00221 PSORT swissprot:AQP6_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:AQP6_HUMAN PSORT-B swissprot:AQP6_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:AQP6_HUMAN PSORT2 swissprot:AQP6_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:AQP6_HUMAN Pfam PF00230 http://pfam.xfam.org/family/PF00230 PharmGKB PA24924 http://www.pharmgkb.org/do/serve?objId=PA24924&objCls=Gene Phobius swissprot:AQP6_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:AQP6_HUMAN PhylomeDB Q13520 http://phylomedb.org/?seqid=Q13520 ProteinModelPortal Q13520 http://www.proteinmodelportal.org/query/uniprot/Q13520 PubMed 16541075 http://www.ncbi.nlm.nih.gov/pubmed/16541075 PubMed 8812490 http://www.ncbi.nlm.nih.gov/pubmed/8812490 Reactome R-HSA-432047 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-432047 RefSeq NP_001643 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001643 STRING 9606.ENSP00000320247 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000320247&targetmode=cogs SUPFAM SSF81338 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81338 TCDB 1.A.8.8 http://www.tcdb.org/search/result.php?tc=1.A.8.8 TIGRFAMs TIGR00861 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00861 UCSC uc001rvr http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001rvr&org=rat UniGene Hs.54505 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.54505 UniProtKB AQP6_HUMAN http://www.uniprot.org/uniprot/AQP6_HUMAN UniProtKB-AC Q13520 http://www.uniprot.org/uniprot/Q13520 charge swissprot:AQP6_HUMAN http://rest.g-language.org/emboss/charge/swissprot:AQP6_HUMAN eggNOG COG0580 http://eggnogapi.embl.de/nog_data/html/tree/COG0580 eggNOG KOG0223 http://eggnogapi.embl.de/nog_data/html/tree/KOG0223 epestfind swissprot:AQP6_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:AQP6_HUMAN garnier swissprot:AQP6_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:AQP6_HUMAN helixturnhelix swissprot:AQP6_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:AQP6_HUMAN hmoment swissprot:AQP6_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:AQP6_HUMAN iep swissprot:AQP6_HUMAN http://rest.g-language.org/emboss/iep/swissprot:AQP6_HUMAN inforesidue swissprot:AQP6_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:AQP6_HUMAN neXtProt NX_Q13520 http://www.nextprot.org/db/entry/NX_Q13520 octanol swissprot:AQP6_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:AQP6_HUMAN pepcoil swissprot:AQP6_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:AQP6_HUMAN pepdigest swissprot:AQP6_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:AQP6_HUMAN pepinfo swissprot:AQP6_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:AQP6_HUMAN pepnet swissprot:AQP6_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:AQP6_HUMAN pepstats swissprot:AQP6_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:AQP6_HUMAN pepwheel swissprot:AQP6_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:AQP6_HUMAN pepwindow swissprot:AQP6_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:AQP6_HUMAN sigcleave swissprot:AQP6_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:AQP6_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS MRP4_HUMAN Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=O15439-1; Sequence=Displayed; Name=2; IsoId=O15439-2; Sequence=VSP_035426; Name=3; IsoId=O15439-3; Sequence=VSP_043283, VSP_043284; Note=No experimental confirmation available.; Name=4; IsoId=O15439-4; Sequence=VSP_057413, VSP_043283, VSP_043284; Note=No experimental confirmation available.; # AltName MRP4_HUMAN ATP-binding cassette sub-family C member 4 # AltName MRP4_HUMAN MRP/cMOAT-related ABC transporter # AltName MRP4_HUMAN Multi-specific organic anion transporter B # BioGrid 115551 17 # CCDS CCDS45061 -. [O15439-3] # CCDS CCDS76643 -. [O15439-4] # CCDS CCDS9474 -. [O15439-1] # ChiTaRS ABCC4 human # DrugBank DB00143 Glutathione # DrugBank DB00158 Folic Acid # DrugBank DB00198 Oseltamivir # DrugBank DB00203 Sildenafil # DrugBank DB00286 Conjugated Estrogens # DrugBank DB00300 Tenofovir # DrugBank DB00328 Indomethacin # DrugBank DB00352 Tioguanine # DrugBank DB00398 Sorafenib # DrugBank DB00482 Celecoxib # DrugBank DB00495 Zidovudine # DrugBank DB00544 Fluorouracil # DrugBank DB00563 Methotrexate # DrugBank DB00586 Diclofenac # DrugBank DB00650 Leucovorin # DrugBank DB00661 Verapamil # DrugBank DB00709 Lamivudine # DrugBank DB00712 Flurbiprofen # DrugBank DB00718 Adefovir Dipivoxil # DrugBank DB00731 Nateglinide # DrugBank DB00770 Alprostadil # DrugBank DB00814 Meloxicam # DrugBank DB00917 Dinoprostone # DrugBank DB00975 Dipyridamole # DrugBank DB01009 Ketoprofen # DrugBank DB01032 Probenecid # DrugBank DB01033 Mercaptopurine # DrugBank DB01050 Ibuprofen # DrugBank DB01076 Atorvastatin # DrugBank DB01098 Rosuvastatin # DrugBank DB01138 Sulfinpyrazone # DrugBank DB01268 Sunitinib # DrugBank DB01327 Cefazolin # DrugBank DB01586 Ursodeoxycholic acid # DrugBank DB02659 Cholic Acid # DrugBank DB08884 Gadoxetate # Ensembl ENST00000376887 ENSP00000366084; ENSG00000125257. [O15439-1] # Ensembl ENST00000536256 ENSP00000442024; ENSG00000125257. [O15439-4] # Ensembl ENST00000629385 ENSP00000487081; ENSG00000125257. [O15439-3] # FUNCTION MRP4_HUMAN May be an organic anion pump relevant to cellular detoxification. # GO_component GO:0005886 plasma membrane; IDA:MGI. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0016323 basolateral plasma membrane; IDA:CACAO. # GO_component GO:0031088 platelet dense granule membrane; IDA:MGI. # GO_function GO:0005524 ATP binding; IEA:UniProtKB-KW. # GO_function GO:0015662 ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism; TAS:Reactome. # GO_function GO:0016404 15-hydroxyprostaglandin dehydrogenase (NAD+) activity; NAS:UniProtKB. # GO_function GO:0043225 ATPase-coupled anion transmembrane transporter activity; TAS:Reactome. # GO_process GO:0002576 platelet degranulation; TAS:Reactome. # GO_process GO:0010243 response to organonitrogen compound; IEA:Ensembl. # GO_process GO:0014070 response to organic cyclic compound; IEA:Ensembl. # GO_process GO:0032310 prostaglandin secretion; IDA:MGI. # GO_process GO:0042384 cilium assembly; IMP:MGI. # GO_process GO:0042493 response to drug; IEA:Ensembl. # GO_process GO:0048661 positive regulation of smooth muscle cell proliferation; IEA:Ensembl. # GO_process GO:0055085 transmembrane transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0016491 oxidoreductase activity # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0016192 vesicle-mediated transport # GOslim_process GO:0055085 transmembrane transport # Gene3D 3.40.50.300 -; 2. # Genevisible O15439 HS # HGNC HGNC:55 ABCC4 # IntAct O15439 5 # InterPro IPR003439 ABC_transporter-like # InterPro IPR003593 AAA+_ATPase # InterPro IPR011527 ABC1_TM_dom # InterPro IPR017871 ABC_transporter_CS # InterPro IPR027417 P-loop_NTPase # InterPro IPR030240 ABCC4 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02000 Transporters # KEGG_Pathway ko02010 ABC transporters # KEGG_Pathway ko04976 Bile secretion # MIM 605250 gene # Organism MRP4_HUMAN Homo sapiens (Human) # PANTHER PTHR24223:SF237 PTHR24223:SF237 # PROSITE PS00211 ABC_TRANSPORTER_1; 2 # PROSITE PS50893 ABC_TRANSPORTER_2; 2 # PROSITE PS50929 ABC_TM1F; 2 # Pfam PF00005 ABC_tran; 2 # Pfam PF00664 ABC_membrane; 2 # Proteomes UP000005640 Chromosome 13 # Reactome R-HSA-114608 Platelet degranulation # Reactome R-HSA-382556 ABC-family proteins mediated transport # RecName MRP4_HUMAN Multidrug resistance-associated protein 4 # RefSeq NP_001098985 NM_001105515.2. [O15439-3] # RefSeq NP_001288758 NM_001301829.1. [O15439-2] # RefSeq NP_001288759 NM_001301830.1. [O15439-4] # RefSeq NP_005836 NM_005845.4. [O15439-1] # SIMILARITY Belongs to the ABC transporter superfamily. ABCC family. Conjugate transporter (TC 3.A.1.208) subfamily. {ECO 0000305}. # SIMILARITY Contains 2 ABC transmembrane type-1 domains. {ECO:0000255|PROSITE-ProRule PRU00441}. # SIMILARITY Contains 2 ABC transporter domains. {ECO:0000255|PROSITE-ProRule PRU00434}. # SMART SM00382 AAA; 2 # SUBCELLULAR LOCATION MRP4_HUMAN Membrane; Multi-pass membrane protein. # SUBUNIT Interacts (via PDZ-binding motif) with SNX27 (via PDZ domain). {ECO:0000269|PubMed 22411990}. # SUPFAM SSF52540 SSF52540; 2 # SUPFAM SSF90123 SSF90123; 2 # TCDB 3.A.1.208 the atp-binding cassette (abc) superfamily # TISSUE SPECIFICITY MRP4_HUMAN Widely expressed, with particularly high levels in prostate, but is barely detectable in liver. # UCSC uc001vmd human. [O15439-1] # UCSC uc010tih human # WEB RESOURCE MRP4_HUMAN Name=ABCMdb; Note=Database for mutations in ABC proteins; URL="http //abcmutations.hegelab.org/proteinDetails?uniprot_id=O15439"; # eggNOG COG1132 LUCA # eggNOG KOG0054 Eukaryota BLAST swissprot:MRP4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:MRP4_HUMAN BioCyc ZFISH:ENSG00000125257-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000125257-MONOMER COXPRESdb 10257 http://coxpresdb.jp/data/gene/10257.shtml CleanEx HS_ABCC4 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ABCC4 DOI 10.1002/humu.20694 http://dx.doi.org/10.1002/humu.20694 DOI 10.1016/j.cell.2006.09.026 http://dx.doi.org/10.1016/j.cell.2006.09.026 DOI 10.1016/j.legalmed.2010.04.001 http://dx.doi.org/10.1016/j.legalmed.2010.04.001 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature02379 http://dx.doi.org/10.1038/nature02379 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1074/jbc.M111.337931 http://dx.doi.org/10.1074/jbc.M111.337931 DOI 10.1074/jbc.M203262200 http://dx.doi.org/10.1074/jbc.M203262200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/scisignal.2000007 http://dx.doi.org/10.1126/scisignal.2000007 DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DrugBank DB00143 http://www.drugbank.ca/drugs/DB00143 DrugBank DB00158 http://www.drugbank.ca/drugs/DB00158 DrugBank DB00198 http://www.drugbank.ca/drugs/DB00198 DrugBank DB00203 http://www.drugbank.ca/drugs/DB00203 DrugBank DB00286 http://www.drugbank.ca/drugs/DB00286 DrugBank DB00300 http://www.drugbank.ca/drugs/DB00300 DrugBank DB00328 http://www.drugbank.ca/drugs/DB00328 DrugBank DB00352 http://www.drugbank.ca/drugs/DB00352 DrugBank DB00398 http://www.drugbank.ca/drugs/DB00398 DrugBank DB00482 http://www.drugbank.ca/drugs/DB00482 DrugBank DB00495 http://www.drugbank.ca/drugs/DB00495 DrugBank DB00544 http://www.drugbank.ca/drugs/DB00544 DrugBank DB00563 http://www.drugbank.ca/drugs/DB00563 DrugBank DB00586 http://www.drugbank.ca/drugs/DB00586 DrugBank DB00650 http://www.drugbank.ca/drugs/DB00650 DrugBank DB00661 http://www.drugbank.ca/drugs/DB00661 DrugBank DB00709 http://www.drugbank.ca/drugs/DB00709 DrugBank DB00712 http://www.drugbank.ca/drugs/DB00712 DrugBank DB00718 http://www.drugbank.ca/drugs/DB00718 DrugBank DB00731 http://www.drugbank.ca/drugs/DB00731 DrugBank DB00770 http://www.drugbank.ca/drugs/DB00770 DrugBank DB00814 http://www.drugbank.ca/drugs/DB00814 DrugBank DB00917 http://www.drugbank.ca/drugs/DB00917 DrugBank DB00975 http://www.drugbank.ca/drugs/DB00975 DrugBank DB01009 http://www.drugbank.ca/drugs/DB01009 DrugBank DB01032 http://www.drugbank.ca/drugs/DB01032 DrugBank DB01033 http://www.drugbank.ca/drugs/DB01033 DrugBank DB01050 http://www.drugbank.ca/drugs/DB01050 DrugBank DB01076 http://www.drugbank.ca/drugs/DB01076 DrugBank DB01098 http://www.drugbank.ca/drugs/DB01098 DrugBank DB01138 http://www.drugbank.ca/drugs/DB01138 DrugBank DB01268 http://www.drugbank.ca/drugs/DB01268 DrugBank DB01327 http://www.drugbank.ca/drugs/DB01327 DrugBank DB01586 http://www.drugbank.ca/drugs/DB01586 DrugBank DB02659 http://www.drugbank.ca/drugs/DB02659 DrugBank DB08884 http://www.drugbank.ca/drugs/DB08884 EMBL AF071202 http://www.ebi.ac.uk/ena/data/view/AF071202 EMBL AF541977 http://www.ebi.ac.uk/ena/data/view/AF541977 EMBL AK296247 http://www.ebi.ac.uk/ena/data/view/AK296247 EMBL AL139381 http://www.ebi.ac.uk/ena/data/view/AL139381 EMBL AL139381 http://www.ebi.ac.uk/ena/data/view/AL139381 EMBL AL139381 http://www.ebi.ac.uk/ena/data/view/AL139381 EMBL AL157818 http://www.ebi.ac.uk/ena/data/view/AL157818 EMBL AL157818 http://www.ebi.ac.uk/ena/data/view/AL157818 EMBL AL157818 http://www.ebi.ac.uk/ena/data/view/AL157818 EMBL AL356257 http://www.ebi.ac.uk/ena/data/view/AL356257 EMBL AL356257 http://www.ebi.ac.uk/ena/data/view/AL356257 EMBL AL356257 http://www.ebi.ac.uk/ena/data/view/AL356257 EMBL AL359750 http://www.ebi.ac.uk/ena/data/view/AL359750 EMBL AY081219 http://www.ebi.ac.uk/ena/data/view/AY081219 EMBL AY207008 http://www.ebi.ac.uk/ena/data/view/AY207008 EMBL BC041560 http://www.ebi.ac.uk/ena/data/view/BC041560 EMBL CH471085 http://www.ebi.ac.uk/ena/data/view/CH471085 EMBL CH471085 http://www.ebi.ac.uk/ena/data/view/CH471085 EMBL U83660 http://www.ebi.ac.uk/ena/data/view/U83660 Ensembl ENST00000376887 http://www.ensembl.org/id/ENST00000376887 Ensembl ENST00000536256 http://www.ensembl.org/id/ENST00000536256 Ensembl ENST00000629385 http://www.ensembl.org/id/ENST00000629385 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0016323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016323 GO_component GO:0031088 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031088 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0015662 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015662 GO_function GO:0016404 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016404 GO_function GO:0043225 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043225 GO_process GO:0002576 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002576 GO_process GO:0010243 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010243 GO_process GO:0014070 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014070 GO_process GO:0032310 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032310 GO_process GO:0042384 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042384 GO_process GO:0042493 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042493 GO_process GO:0048661 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048661 GO_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0016491 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016491 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0016192 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016192 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 3.40.50.300 http://www.cathdb.info/version/latest/superfamily/3.40.50.300 GeneCards ABCC4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ABCC4 GeneID 10257 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=10257 GeneTree ENSGT00860000133687 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00860000133687 HGNC HGNC:55 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:55 HOVERGEN HBG108314 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG108314&db=HOVERGEN HPA HPA002476 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA002476 InParanoid O15439 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O15439 IntAct O15439 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O15439* InterPro IPR003439 http://www.ebi.ac.uk/interpro/entry/IPR003439 InterPro IPR003593 http://www.ebi.ac.uk/interpro/entry/IPR003593 InterPro IPR011527 http://www.ebi.ac.uk/interpro/entry/IPR011527 InterPro IPR017871 http://www.ebi.ac.uk/interpro/entry/IPR017871 InterPro IPR027417 http://www.ebi.ac.uk/interpro/entry/IPR027417 InterPro IPR030240 http://www.ebi.ac.uk/interpro/entry/IPR030240 Jabion 10257 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=10257 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Gene hsa:10257 http://www.genome.jp/dbget-bin/www_bget?hsa:10257 KEGG_Orthology KO:K05673 http://www.genome.jp/dbget-bin/www_bget?KO:K05673 KEGG_Pathway ko02010 http://www.genome.jp/kegg-bin/show_pathway?ko02010 KEGG_Pathway ko04976 http://www.genome.jp/kegg-bin/show_pathway?ko04976 MIM 605250 http://www.ncbi.nlm.nih.gov/omim/605250 OMA CAMFVII http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=CAMFVII OrthoDB EOG091G00IN http://cegg.unige.ch/orthodb/results?searchtext=EOG091G00IN PANTHER PTHR24223:SF237 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24223:SF237 PROSITE PS00211 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00211 PROSITE PS50893 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50893 PROSITE PS50929 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50929 PSORT swissprot:MRP4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:MRP4_HUMAN PSORT-B swissprot:MRP4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:MRP4_HUMAN PSORT2 swissprot:MRP4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:MRP4_HUMAN Pfam PF00005 http://pfam.xfam.org/family/PF00005 Pfam PF00664 http://pfam.xfam.org/family/PF00664 PharmGKB PA397 http://www.pharmgkb.org/do/serve?objId=PA397&objCls=Gene Phobius swissprot:MRP4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:MRP4_HUMAN PhylomeDB O15439 http://phylomedb.org/?seqid=O15439 ProteinModelPortal O15439 http://www.proteinmodelportal.org/query/uniprot/O15439 PubMed 12105214 http://www.ncbi.nlm.nih.gov/pubmed/12105214 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15057823 http://www.ncbi.nlm.nih.gov/pubmed/15057823 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 17081983 http://www.ncbi.nlm.nih.gov/pubmed/17081983 PubMed 18300232 http://www.ncbi.nlm.nih.gov/pubmed/18300232 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 19690332 http://www.ncbi.nlm.nih.gov/pubmed/19690332 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 20547088 http://www.ncbi.nlm.nih.gov/pubmed/20547088 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 22411990 http://www.ncbi.nlm.nih.gov/pubmed/22411990 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 9270026 http://www.ncbi.nlm.nih.gov/pubmed/9270026 PubMed 9661885 http://www.ncbi.nlm.nih.gov/pubmed/9661885 Reactome R-HSA-114608 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-114608 Reactome R-HSA-382556 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-382556 RefSeq NP_001098985 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001098985 RefSeq NP_001288758 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001288758 RefSeq NP_001288759 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001288759 RefSeq NP_005836 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_005836 SMART SM00382 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00382 SMR O15439 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=O15439 STRING 9606.ENSP00000366084 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000366084&targetmode=cogs SUPFAM SSF52540 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52540 SUPFAM SSF90123 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF90123 TCDB 3.A.1.208 http://www.tcdb.org/search/result.php?tc=3.A.1.208 UCSC uc001vmd http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001vmd&org=rat UCSC uc010tih http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc010tih&org=rat UniGene Hs.508423 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.508423 UniProtKB MRP4_HUMAN http://www.uniprot.org/uniprot/MRP4_HUMAN UniProtKB-AC O15439 http://www.uniprot.org/uniprot/O15439 charge swissprot:MRP4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:MRP4_HUMAN eggNOG COG1132 http://eggnogapi.embl.de/nog_data/html/tree/COG1132 eggNOG KOG0054 http://eggnogapi.embl.de/nog_data/html/tree/KOG0054 epestfind swissprot:MRP4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:MRP4_HUMAN garnier swissprot:MRP4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:MRP4_HUMAN helixturnhelix swissprot:MRP4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:MRP4_HUMAN hmoment swissprot:MRP4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:MRP4_HUMAN iep swissprot:MRP4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:MRP4_HUMAN inforesidue swissprot:MRP4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:MRP4_HUMAN neXtProt NX_O15439 http://www.nextprot.org/db/entry/NX_O15439 octanol swissprot:MRP4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:MRP4_HUMAN pepcoil swissprot:MRP4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:MRP4_HUMAN pepdigest swissprot:MRP4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:MRP4_HUMAN pepinfo swissprot:MRP4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:MRP4_HUMAN pepnet swissprot:MRP4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:MRP4_HUMAN pepstats swissprot:MRP4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:MRP4_HUMAN pepwheel swissprot:MRP4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:MRP4_HUMAN pepwindow swissprot:MRP4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:MRP4_HUMAN sigcleave swissprot:MRP4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:MRP4_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S13A2_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q13183-1; Sequence=Displayed; Name=2; IsoId=Q13183-2; Sequence=VSP_046426, VSP_046427; Note=No experimental confirmation available.; Name=3; IsoId=Q13183-3; Sequence=VSP_046427; Note=No experimental confirmation available.; # AltName S13A2_HUMAN Na(+)/dicarboxylate cotransporter 1 # AltName S13A2_HUMAN Renal sodium/dicarboxylate cotransporter # BioGrid 114520 11 # CCDS CCDS11231 -. [Q13183-1] # CCDS CCDS54098 -. [Q13183-3] # DrugBank DB00139 Succinic acid # Ensembl ENST00000314669 ENSP00000316202; ENSG00000007216. [Q13183-1] # Ensembl ENST00000444914 ENSP00000392411; ENSG00000007216. [Q13183-3] # ExpressionAtlas Q13183 baseline and differential # FUNCTION S13A2_HUMAN Cotransport of sodium ions and dicarboxylates such as succinate and citrate. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0016020 membrane; TAS:ProtInc. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function S13A2_HUMAN GO 0015361 low-affinity sodium dicarboxylate symporter activity; TAS Reactome. # GO_process GO:0006810 transport; TAS:ProtInc. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # Genevisible Q13183 HS # HGNC HGNC:10917 SLC13A2 # InterPro IPR001898 Na/sul_symport # InterPro IPR031312 Na/sul_symport_CS # KEGG_Brite ko02001 Solute carrier family # MIM 604148 gene # Organism S13A2_HUMAN Homo sapiens (Human) # PROSITE PS01271 NA_SULFATE # Pfam PF00939 Na_sulph_symp # Proteomes UP000005640 Chromosome 17 # Reactome R-HSA-433137 Sodium-coupled sulphate, di- and tri-carboxylate transporters # RecName S13A2_HUMAN Solute carrier family 13 member 2 # RefSeq NP_001139447 NM_001145975.1. [Q13183-3] # RefSeq NP_003975 NM_003984.3. [Q13183-1] # SIMILARITY Belongs to the SLC13A/DASS transporter (TC 2.A.47) family. NADC subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION S13A2_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # TCDB 2.A.47.1.17:the divalent anion na(+) symporter (dass) family # UCSC uc002hbh human. [Q13183-1] BLAST swissprot:S13A2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S13A2_HUMAN BioCyc ZFISH:ENSG00000007216-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000007216-MONOMER COG COG0471 http://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=COG0471 COXPRESdb 9058 http://coxpresdb.jp/data/gene/9058.shtml CleanEx HS_SLC13A2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC13A2 DOI 10.1038/nature04689 http://dx.doi.org/10.1038/nature04689 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1442-2042.2007.01554.x http://dx.doi.org/10.1111/j.1442-2042.2007.01554.x DrugBank DB00139 http://www.drugbank.ca/drugs/DB00139 EMBL AC015917 http://www.ebi.ac.uk/ena/data/view/AC015917 EMBL AK298388 http://www.ebi.ac.uk/ena/data/view/AK298388 EMBL AK314684 http://www.ebi.ac.uk/ena/data/view/AK314684 EMBL BC096277 http://www.ebi.ac.uk/ena/data/view/BC096277 EMBL BC096278 http://www.ebi.ac.uk/ena/data/view/BC096278 EMBL BC096279 http://www.ebi.ac.uk/ena/data/view/BC096279 EMBL U26209 http://www.ebi.ac.uk/ena/data/view/U26209 Ensembl ENST00000314669 http://www.ensembl.org/id/ENST00000314669 Ensembl ENST00000444914 http://www.ensembl.org/id/ENST00000444914 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0015361 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015361 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GeneCards SLC13A2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC13A2 GeneID 9058 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=9058 GeneTree ENSGT00550000074480 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074480 HGNC HGNC:10917 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10917 HOGENOM HOG000278432 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000278432&db=HOGENOM6 HOVERGEN HBG055339 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG055339&db=HOVERGEN HPA HPA014963 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA014963 InParanoid Q13183 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q13183 InterPro IPR001898 http://www.ebi.ac.uk/interpro/entry/IPR001898 InterPro IPR031312 http://www.ebi.ac.uk/interpro/entry/IPR031312 Jabion 9058 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=9058 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:9058 http://www.genome.jp/dbget-bin/www_bget?hsa:9058 KEGG_Orthology KO:K14445 http://www.genome.jp/dbget-bin/www_bget?KO:K14445 MIM 604148 http://www.ncbi.nlm.nih.gov/omim/604148 OMA DKCRKLQ http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=DKCRKLQ OrthoDB EOG091G092X http://cegg.unige.ch/orthodb/results?searchtext=EOG091G092X PROSITE PS01271 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS01271 PSORT swissprot:S13A2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S13A2_HUMAN PSORT-B swissprot:S13A2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S13A2_HUMAN PSORT2 swissprot:S13A2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S13A2_HUMAN Pfam PF00939 http://pfam.xfam.org/family/PF00939 PharmGKB PA382 http://www.pharmgkb.org/do/serve?objId=PA382&objCls=Gene Phobius swissprot:S13A2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S13A2_HUMAN PhylomeDB Q13183 http://phylomedb.org/?seqid=Q13183 ProteinModelPortal Q13183 http://www.proteinmodelportal.org/query/uniprot/Q13183 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16625196 http://www.ncbi.nlm.nih.gov/pubmed/16625196 PubMed 17470169 http://www.ncbi.nlm.nih.gov/pubmed/17470169 PubMed 8967342 http://www.ncbi.nlm.nih.gov/pubmed/8967342 Reactome R-HSA-433137 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-433137 RefSeq NP_001139447 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001139447 RefSeq NP_003975 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_003975 STRING COG0471 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=COG0471&targetmode=cogs TCDB 2.A.47.1.17 http://www.tcdb.org/search/result.php?tc=2.A.47.1.17 UCSC uc002hbh http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002hbh&org=rat UniGene Hs.102307 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.102307 UniProtKB S13A2_HUMAN http://www.uniprot.org/uniprot/S13A2_HUMAN UniProtKB-AC Q13183 http://www.uniprot.org/uniprot/Q13183 charge swissprot:S13A2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S13A2_HUMAN epestfind swissprot:S13A2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S13A2_HUMAN garnier swissprot:S13A2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S13A2_HUMAN helixturnhelix swissprot:S13A2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S13A2_HUMAN hmoment swissprot:S13A2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S13A2_HUMAN iep swissprot:S13A2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S13A2_HUMAN inforesidue swissprot:S13A2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S13A2_HUMAN neXtProt NX_Q13183 http://www.nextprot.org/db/entry/NX_Q13183 octanol swissprot:S13A2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S13A2_HUMAN pepcoil swissprot:S13A2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S13A2_HUMAN pepdigest swissprot:S13A2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S13A2_HUMAN pepinfo swissprot:S13A2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S13A2_HUMAN pepnet swissprot:S13A2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S13A2_HUMAN pepstats swissprot:S13A2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S13A2_HUMAN pepwheel swissprot:S13A2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S13A2_HUMAN pepwindow swissprot:S13A2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S13A2_HUMAN sigcleave swissprot:S13A2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S13A2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS GLRB_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P48167-1; Sequence=Displayed; Name=2; IsoId=P48167-2; Sequence=VSP_045466, VSP_045467; Note=No experimental confirmation available.; # AltName GLRB_HUMAN Glycine receptor 58 kDa subunit # BioGrid 109005 12 # CCDS CCDS3796 -. [P48167-1] # CCDS CCDS54813 -. [P48167-2] # DISEASE GLRB_HUMAN Hyperekplexia 2 (HKPX2) [MIM 614619] A neurologic disorder characterized by muscular rigidity of central nervous system origin, particularly in the neonatal period, and by an exaggerated startle response to unexpected acoustic or tactile stimuli. {ECO 0000269|PubMed 11929858, ECO 0000269|PubMed 21391991, ECO 0000269|PubMed 23238346}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DrugBank DB00145 Glycine # DrugBank DB00228 Enflurane # DrugBank DB00431 Lindane # Ensembl ENST00000264428 ENSP00000264428; ENSG00000109738. [P48167-1] # Ensembl ENST00000509282 ENSP00000427186; ENSG00000109738. [P48167-1] # Ensembl ENST00000541722 ENSP00000441873; ENSG00000109738. [P48167-2] # ExpressionAtlas P48167 baseline and differential # FUNCTION GLRB_HUMAN Glycine receptors are ligand-gated chloride channels. GLRB does not form ligand-gated ion channels by itself, but is part of heteromeric ligand-gated chloride channels. Channel opening is triggered by extracellular glycine (PubMed 8717357, PubMed 15302677, PubMed 16144831, PubMed 22715885, PubMed 25445488, PubMed 11929858, PubMed 23238346). Heteropentameric channels composed of GLRB and GLRA1 are activated by lower glycine levels than homopentameric GLRA1 (PubMed 8717357). Plays an important role in the down-regulation of neuronal excitability (PubMed 11929858, PubMed 23238346). Contributes to the generation of inhibitory postsynaptic currents (PubMed 25445488). {ECO 0000269|PubMed 11929858, ECO 0000269|PubMed 15302677, ECO 0000269|PubMed 16144831, ECO 0000269|PubMed 22715885, ECO 0000269|PubMed 23238346, ECO 0000269|PubMed 25445488, ECO 0000269|PubMed 8717357}. # GO_component GO:0005737 cytoplasm; IEA:UniProtKB-SubCell. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IDA:UniProtKB. # GO_component GO:0016935 glycine-gated chloride channel complex; IDA:UniProtKB. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0030425 dendrite; IEA:UniProtKB-SubCell. # GO_component GO:0045211 postsynaptic membrane; IEA:UniProtKB-SubCell. # GO_component GO:0098982 GABA-ergic synapse; IEA:Ensembl. # GO_function GO:0008144 drug binding; IEA:Ensembl. # GO_function GO:0016594 glycine binding; IEA:Ensembl. # GO_function GO:0016933 extracellular-glycine-gated ion channel activity; IMP:UniProtKB. # GO_function GO:0016934 extracellular-glycine-gated chloride channel activity; IEA:Ensembl. # GO_process GO:0001964 startle response; IMP:UniProtKB. # GO_process GO:0006811 ion transport; IDA:UniProtKB. # GO_process GO:0007218 neuropeptide signaling pathway; IDA:UniProtKB. # GO_process GO:0007268 chemical synaptic transmission; IMP:UniProtKB. # GO_process GO:0007340 acrosome reaction; IEA:Ensembl. # GO_process GO:0007399 nervous system development; IMP:UniProtKB. # GO_process GO:0007601 visual perception; IEA:Ensembl. # GO_process GO:0007628 adult walking behavior; IEA:Ensembl. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0042391 regulation of membrane potential; IEA:Ensembl. # GO_process GO:0043200 response to amino acid; IBA:GO_Central. # GO_process GO:0051291 protein heterooligomerization; IEA:Ensembl. # GO_process GO:0060012 synaptic transmission, glycinergic; IBA:GO_Central. # GO_process GO:0060013 righting reflex; IEA:Ensembl. # GO_process GO:0097112 gamma-aminobutyric acid receptor clustering; IEA:Ensembl. # GO_process GO:1902476 chloride transmembrane transport; IMP:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0050877 neurological system process # GOslim_process GO:0055085 transmembrane transport # GOslim_process GO:0061024 membrane organization # Gene3D 2.70.170.10 -; 1. # Genevisible P48167 HS # HGNC HGNC:4329 GLRB # InterPro IPR006029 Neurotrans-gated_channel_TM # InterPro IPR006201 Neur_channel # InterPro IPR006202 Neur_chan_lig-bd # InterPro IPR008060 Glycine_rcpt_B # InterPro IPR018000 Neurotransmitter_ion_chnl_CS # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00769 [Nervous system disease] Hyperekplexia # KEGG_Pathway ko04080 Neuroactive ligand-receptor interaction # MIM 138492 gene # MIM 614619 phenotype # Organism GLRB_HUMAN Homo sapiens (Human) # Orphanet 3197 Hereditary hyperekplexia # PANTHER PTHR18945 PTHR18945; 2 # PANTHER PTHR18945:SF29 PTHR18945:SF29; 2 # PIR G02031 G02031 # PRINTS PR00252 NRIONCHANNEL # PRINTS PR01677 GLYRBETA # PROSITE PS00236 NEUROTR_ION_CHANNEL # Pfam PF02931 Neur_chan_LBD # Pfam PF02932 Neur_chan_memb # Proteomes UP000005640 Chromosome 4 # Reactome R-HSA-975298 Ligand-gated ion channel transport # RecName GLRB_HUMAN Glycine receptor subunit beta # RefSeq NP_000815 NM_000824.4. [P48167-1] # RefSeq NP_001159532 NM_001166060.1. [P48167-1] # RefSeq NP_001159533 NM_001166061.1. [P48167-2] # RefSeq XP_016863524 XM_017008035.1. [P48167-2] # SIMILARITY Belongs to the ligand-gated ion channel (TC 1.A.9) family. Glycine receptor (TC 1.A.9.3) subfamily. GLRB sub- subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION GLRB_HUMAN Cell junction, synapse, postsynaptic cell membrane {ECO 0000250|UniProtKB P48168}; Multi-pass membrane protein {ECO 0000250|UniProtKB P48167}. Cell junction, synapse {ECO 0000250|UniProtKB P48168}. Cell projection, dendrite {ECO 0000250|UniProtKB P48168}. Cell membrane {ECO 0000269|PubMed 11929858, ECO 0000269|PubMed 12684523, ECO 0000269|PubMed 15302677, ECO 0000269|PubMed 16144831, ECO 0000269|PubMed 22715885, ECO 0000269|PubMed 22973015, ECO 0000269|PubMed 23238346, ECO 0000269|PubMed 25445488, ECO 0000269|PubMed 8717357}; Multi-pass membrane protein {ECO 0000250|UniProtKB P23415}. Cytoplasm {ECO 0000269|PubMed 12684523}. Note=Retained in the cytoplasm upon heterologous expression by itself. Coexpression with GPHN promotes expression at the cell membrane (PubMed 12684523). Coexpression with GLRA1, GLRA2 or GLRA3 promotes expression at the cell membrane. {ECO 0000250|UniProtKB P20781, ECO 0000269|PubMed 12684523}. # SUBUNIT GLRB_HUMAN Heteropentamer composed of GLRB and GLRA1 (PubMed 8717357, PubMed 14551753, PubMed 22973015, PubMed 22715885, PubMed 25445488, PubMed 11929858, PubMed 23238346). Heteropentamer composed of GLRB and GLRA2 (PubMed 15302677, PubMed 16144831, PubMed 25445488). Heteropentamer composed of GLRB and GLRA3 (PubMed 25445488). Heteropentamer composed of two GLRA1 and three GLRB subunits (PubMed 22715885). Heteropentamer composed of three GLRA1 and two GLRB subunits (PubMed 22973015). Interacts with GPHN (PubMed 12684523,PubMed 26613940). {ECO 0000269|PubMed 11929858, ECO 0000269|PubMed 12684523, ECO 0000269|PubMed 14551753, ECO 0000269|PubMed 15302677, ECO 0000269|PubMed 16144831, ECO 0000269|PubMed 22715885, ECO 0000269|PubMed 22973015, ECO 0000269|PubMed 23238346, ECO 0000269|PubMed 25445488, ECO 0000269|PubMed 26613940, ECO 0000269|PubMed 8717357}. # SUPFAM SSF63712 SSF63712 # SUPFAM SSF90112 SSF90112 # TCDB 1.A.9.3 the neurotransmitter receptor, cys loop, ligand-gated ion channel (lic) family # TIGRFAMs TIGR00860 LIC # UCSC uc003ipj human. [P48167-1] # eggNOG ENOG410XP43 LUCA # eggNOG KOG3644 Eukaryota BLAST swissprot:GLRB_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:GLRB_HUMAN BioCyc ZFISH:ENSG00000109738-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000109738-MONOMER COXPRESdb 2743 http://coxpresdb.jp/data/gene/2743.shtml CleanEx HS_GLRB http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_GLRB DOI 10.1006/geno.1998.5324 http://dx.doi.org/10.1006/geno.1998.5324 DOI 10.1007/s00249-003-0286-y http://dx.doi.org/10.1007/s00249-003-0286-y DOI 10.1016/0169-328X(95)00215-E http://dx.doi.org/10.1016/0169-328X(95)00215-E DOI 10.1016/j.nbd.2012.12.001 http://dx.doi.org/10.1016/j.nbd.2012.12.001 DOI 10.1016/j.neuropharm.2014.10.026 http://dx.doi.org/10.1016/j.neuropharm.2014.10.026 DOI 10.1016/j.ygeno.2003.09.023 http://dx.doi.org/10.1016/j.ygeno.2003.09.023 DOI 10.1021/bi300063m http://dx.doi.org/10.1021/bi300063m DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1038/sj.bjp.0705875 http://dx.doi.org/10.1038/sj.bjp.0705875 DOI 10.1074/jbc.M301070200 http://dx.doi.org/10.1074/jbc.M301070200 DOI 10.1074/jbc.M508303200 http://dx.doi.org/10.1074/jbc.M508303200 DOI 10.1093/hmg/11.7.853 http://dx.doi.org/10.1093/hmg/11.7.853 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1399-0004.2011.01661.x http://dx.doi.org/10.1111/j.1399-0004.2011.01661.x DOI 10.1523/JNEUROSCI.2050-12.2012 http://dx.doi.org/10.1523/JNEUROSCI.2050-12.2012 DOI 10.15252/emmm.201505323 http://dx.doi.org/10.15252/emmm.201505323 DrugBank DB00145 http://www.drugbank.ca/drugs/DB00145 DrugBank DB00228 http://www.drugbank.ca/drugs/DB00228 DrugBank DB00431 http://www.drugbank.ca/drugs/DB00431 EMBL AC079403 http://www.ebi.ac.uk/ena/data/view/AC079403 EMBL AF094754 http://www.ebi.ac.uk/ena/data/view/AF094754 EMBL AF094755 http://www.ebi.ac.uk/ena/data/view/AF094755 EMBL AK290617 http://www.ebi.ac.uk/ena/data/view/AK290617 EMBL BC032635 http://www.ebi.ac.uk/ena/data/view/BC032635 EMBL CD013911 http://www.ebi.ac.uk/ena/data/view/CD013911 EMBL CH471056 http://www.ebi.ac.uk/ena/data/view/CH471056 EMBL CH471056 http://www.ebi.ac.uk/ena/data/view/CH471056 EMBL U33267 http://www.ebi.ac.uk/ena/data/view/U33267 Ensembl ENST00000264428 http://www.ensembl.org/id/ENST00000264428 Ensembl ENST00000509282 http://www.ensembl.org/id/ENST00000509282 Ensembl ENST00000541722 http://www.ensembl.org/id/ENST00000541722 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016935 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016935 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0030425 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030425 GO_component GO:0045211 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045211 GO_component GO:0098982 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0098982 GO_function GO:0008144 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008144 GO_function GO:0016594 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016594 GO_function GO:0016933 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016933 GO_function GO:0016934 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016934 GO_process GO:0001964 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001964 GO_process GO:0006811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006811 GO_process GO:0007218 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007218 GO_process GO:0007268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007268 GO_process GO:0007340 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007340 GO_process GO:0007399 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007399 GO_process GO:0007601 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007601 GO_process GO:0007628 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007628 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0042391 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042391 GO_process GO:0043200 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043200 GO_process GO:0051291 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051291 GO_process GO:0060012 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060012 GO_process GO:0060013 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060013 GO_process GO:0097112 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097112 GO_process GO:1902476 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902476 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GOslim_process GO:0061024 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061024 Gene3D 2.70.170.10 http://www.cathdb.info/version/latest/superfamily/2.70.170.10 GeneCards GLRB http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=GLRB GeneID 2743 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=2743 GeneTree ENSGT00760000118821 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118821 HGNC HGNC:4329 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:4329 HOGENOM HOG000231336 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231336&db=HOGENOM6 HOVERGEN HBG051707 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG051707&db=HOVERGEN HPA HPA052363 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA052363 InParanoid P48167 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P48167 IntAct P48167 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P48167* InterPro IPR006029 http://www.ebi.ac.uk/interpro/entry/IPR006029 InterPro IPR006201 http://www.ebi.ac.uk/interpro/entry/IPR006201 InterPro IPR006202 http://www.ebi.ac.uk/interpro/entry/IPR006202 InterPro IPR008060 http://www.ebi.ac.uk/interpro/entry/IPR008060 InterPro IPR018000 http://www.ebi.ac.uk/interpro/entry/IPR018000 Jabion 2743 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=2743 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00769 http://www.genome.jp/dbget-bin/www_bget?H00769 KEGG_Gene hsa:2743 http://www.genome.jp/dbget-bin/www_bget?hsa:2743 KEGG_Orthology KO:K05196 http://www.genome.jp/dbget-bin/www_bget?KO:K05196 KEGG_Pathway ko04080 http://www.genome.jp/kegg-bin/show_pathway?ko04080 MIM 138492 http://www.ncbi.nlm.nih.gov/omim/138492 MIM 614619 http://www.ncbi.nlm.nih.gov/omim/614619 OMA PRLKLPN http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=PRLKLPN Orphanet 3197 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=3197 OrthoDB EOG091G0805 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0805 PANTHER PTHR18945 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR18945 PANTHER PTHR18945:SF29 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR18945:SF29 PRINTS PR00252 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00252 PRINTS PR01677 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01677 PROSITE PS00236 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00236 PSORT swissprot:GLRB_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:GLRB_HUMAN PSORT-B swissprot:GLRB_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:GLRB_HUMAN PSORT2 swissprot:GLRB_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:GLRB_HUMAN Pfam PF02931 http://pfam.xfam.org/family/PF02931 Pfam PF02932 http://pfam.xfam.org/family/PF02932 PharmGKB PA28730 http://www.pharmgkb.org/do/serve?objId=PA28730&objCls=Gene Phobius swissprot:GLRB_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:GLRB_HUMAN PhylomeDB P48167 http://phylomedb.org/?seqid=P48167 ProteinModelPortal P48167 http://www.proteinmodelportal.org/query/uniprot/P48167 PubMed 11929858 http://www.ncbi.nlm.nih.gov/pubmed/11929858 PubMed 12684523 http://www.ncbi.nlm.nih.gov/pubmed/12684523 PubMed 14551753 http://www.ncbi.nlm.nih.gov/pubmed/14551753 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15028279 http://www.ncbi.nlm.nih.gov/pubmed/15028279 PubMed 15302677 http://www.ncbi.nlm.nih.gov/pubmed/15302677 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 PubMed 16144831 http://www.ncbi.nlm.nih.gov/pubmed/16144831 PubMed 21391991 http://www.ncbi.nlm.nih.gov/pubmed/21391991 PubMed 22715885 http://www.ncbi.nlm.nih.gov/pubmed/22715885 PubMed 22973015 http://www.ncbi.nlm.nih.gov/pubmed/22973015 PubMed 23238346 http://www.ncbi.nlm.nih.gov/pubmed/23238346 PubMed 25445488 http://www.ncbi.nlm.nih.gov/pubmed/25445488 PubMed 26613940 http://www.ncbi.nlm.nih.gov/pubmed/26613940 PubMed 8717357 http://www.ncbi.nlm.nih.gov/pubmed/8717357 PubMed 9676428 http://www.ncbi.nlm.nih.gov/pubmed/9676428 Reactome R-HSA-975298 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-975298 RefSeq NP_000815 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000815 RefSeq NP_001159532 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001159532 RefSeq NP_001159533 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001159533 RefSeq XP_016863524 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016863524 SMR P48167 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P48167 STRING 9606.ENSP00000264428 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000264428&targetmode=cogs SUPFAM SSF63712 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF63712 SUPFAM SSF90112 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF90112 TCDB 1.A.9.3 http://www.tcdb.org/search/result.php?tc=1.A.9.3 TIGRFAMs TIGR00860 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00860 UCSC uc003ipj http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003ipj&org=rat UniGene Hs.32973 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.32973 UniProtKB GLRB_HUMAN http://www.uniprot.org/uniprot/GLRB_HUMAN UniProtKB-AC P48167 http://www.uniprot.org/uniprot/P48167 charge swissprot:GLRB_HUMAN http://rest.g-language.org/emboss/charge/swissprot:GLRB_HUMAN eggNOG ENOG410XP43 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XP43 eggNOG KOG3644 http://eggnogapi.embl.de/nog_data/html/tree/KOG3644 epestfind swissprot:GLRB_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:GLRB_HUMAN garnier swissprot:GLRB_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:GLRB_HUMAN helixturnhelix swissprot:GLRB_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:GLRB_HUMAN hmoment swissprot:GLRB_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:GLRB_HUMAN iep swissprot:GLRB_HUMAN http://rest.g-language.org/emboss/iep/swissprot:GLRB_HUMAN inforesidue swissprot:GLRB_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:GLRB_HUMAN neXtProt NX_P48167 http://www.nextprot.org/db/entry/NX_P48167 octanol swissprot:GLRB_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:GLRB_HUMAN pepcoil swissprot:GLRB_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:GLRB_HUMAN pepdigest swissprot:GLRB_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:GLRB_HUMAN pepinfo swissprot:GLRB_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:GLRB_HUMAN pepnet swissprot:GLRB_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:GLRB_HUMAN pepstats swissprot:GLRB_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:GLRB_HUMAN pepwheel swissprot:GLRB_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:GLRB_HUMAN pepwindow swissprot:GLRB_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:GLRB_HUMAN sigcleave swissprot:GLRB_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:GLRB_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS NIPA2_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8N8Q9-1; Sequence=Displayed; Name=2; IsoId=Q8N8Q9-2; Sequence=VSP_044587; Note=Not experimental evidence available.; # AltName NIPA2_HUMAN Non-imprinted in Prader-Willi/Angelman syndrome region protein 2 # BioGrid 123549 2 # CCDS CCDS73693 -. [Q8N8Q9-1] # CCDS CCDS73694 -. [Q8N8Q9-2] # Ensembl ENST00000337451 ENSP00000337618; ENSG00000140157. [Q8N8Q9-1] # Ensembl ENST00000359727 ENSP00000352762; ENSG00000140157. [Q8N8Q9-2] # Ensembl ENST00000398013 ENSP00000381095; ENSG00000140157. [Q8N8Q9-1] # Ensembl ENST00000398014 ENSP00000381096; ENSG00000140157. [Q8N8Q9-1] # Ensembl ENST00000539711 ENSP00000437746; ENSG00000140157. [Q8N8Q9-2] # ExpressionAtlas Q8N8Q9 baseline and differential # FUNCTION NIPA2_HUMAN Acts as a selective Mg(2+) transporter. {ECO 0000250}. # GO_component GO:0005769 early endosome; IEA:UniProtKB-SubCell. # GO_component GO:0005886 plasma membrane; IEA:UniProtKB-SubCell. # GO_component GO:0016020 membrane; IBA:GO_Central. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0015095 magnesium ion transmembrane transporter activity; IEA:InterPro. # GO_process GO:0015693 magnesium ion transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005768 endosome # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # Genevisible Q8N8Q9 HS # HGNC HGNC:17044 NIPA2 # InterPro IPR008521 Mg_trans_NIPA # MIM 608146 gene # Organism NIPA2_HUMAN Homo sapiens (Human) # PANTHER PTHR12570 PTHR12570 # Pfam PF05653 Mg_trans_NIPA # Proteomes UP000005640 Chromosome 15 # Reactome R-HSA-5223345 Miscellaneous transport and binding events # RecName NIPA2_HUMAN Magnesium transporter NIPA2 # RefSeq NP_001008860 NM_001008860.2. [Q8N8Q9-1] # RefSeq NP_001008892 NM_001008892.2. [Q8N8Q9-1] # RefSeq NP_001008894 NM_001008894.2. [Q8N8Q9-2] # RefSeq NP_001171817 NM_001184888.1. [Q8N8Q9-2] # RefSeq NP_001171818 NM_001184889.1. [Q8N8Q9-1] # RefSeq NP_112184 NM_030922.6. [Q8N8Q9-1] # RefSeq XP_005272603 XM_005272546.3. [Q8N8Q9-1] # RefSeq XP_005272604 XM_005272547.4. [Q8N8Q9-1] # RefSeq XP_005272605 XM_005272548.3. [Q8N8Q9-1] # RefSeq XP_005272607 XM_005272550.3. [Q8N8Q9-1] # RefSeq XP_005272609 XM_005272552.3. [Q8N8Q9-1] # RefSeq XP_005272610 XM_005272553.4. [Q8N8Q9-1] # RefSeq XP_006720427 XM_006720364.2. [Q8N8Q9-1] # RefSeq XP_006720428 XM_006720365.2. [Q8N8Q9-1] # RefSeq XP_006720429 XM_006720366.3. [Q8N8Q9-1] # RefSeq XP_006720430 XM_006720367.1. [Q8N8Q9-2] # RefSeq XP_011542179 XM_011543877.2. [Q8N8Q9-1] # RefSeq XP_011542180 XM_011543878.2. [Q8N8Q9-1] # RefSeq XP_011542181 XM_011543879.2. [Q8N8Q9-1] # RefSeq XP_011542182 XM_011543880.2. [Q8N8Q9-1] # RefSeq XP_016878134 XM_017022645.1. [Q8N8Q9-1] # RefSeq XP_016878135 XM_017022646.1. [Q8N8Q9-1] # RefSeq XP_016878136 XM_017022647.1. [Q8N8Q9-1] # RefSeq XP_016878137 XM_017022648.1. [Q8N8Q9-1] # RefSeq XP_016878138 XM_017022649.1. [Q8N8Q9-1] # RefSeq XP_016878139 XM_017022650.1. [Q8N8Q9-1] # RefSeq XP_016878140 XM_017022651.1. [Q8N8Q9-1] # RefSeq XP_016878141 XM_017022652.1. [Q8N8Q9-1] # RefSeq XP_016878142 XM_017022653.1. [Q8N8Q9-1] # RefSeq XP_016878143 XM_017022654.1. [Q8N8Q9-1] # RefSeq XP_016878144 XM_017022655.1. [Q8N8Q9-2] # RefSeq XP_016878145 XM_017022656.1. [Q8N8Q9-2] # RefSeq XP_016878146 XM_017022657.1. [Q8N8Q9-2] # RefSeq XP_016878147 XM_017022658.1. [Q8N8Q9-2] # RefSeq XP_016878148 XM_017022659.1. [Q8N8Q9-2] # RefSeq XP_016878149 XM_017022660.1. [Q8N8Q9-2] # RefSeq XP_016878150 XM_017022661.1. [Q8N8Q9-2] # RefSeq XP_016878151 XM_017022662.1. [Q8N8Q9-2] # RefSeq XP_016878152 XM_017022663.1. [Q8N8Q9-2] # SIMILARITY Belongs to the NIPA family. {ECO 0000305}. # SUBCELLULAR LOCATION NIPA2_HUMAN Cell membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. Early endosome {ECO 0000250}. Note=Recruited to the cell membrane in response to low extracellular magnesium. {ECO 0000250}. # TCDB 2.A.7.25 the drug/metabolite transporter (dmt) superfamily # TISSUE SPECIFICITY Widely expressed. {ECO:0000269|PubMed 14508708}. # UCSC uc001yux human. [Q8N8Q9-1] # eggNOG ENOG410XNR8 LUCA # eggNOG KOG2922 Eukaryota BLAST swissprot:NIPA2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:NIPA2_HUMAN BioCyc ZFISH:ENSG00000140157-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000140157-MONOMER COXPRESdb 81614 http://coxpresdb.jp/data/gene/81614.shtml CleanEx HS_NIPA2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_NIPA2 DOI 10.1038/nature04601 http://dx.doi.org/10.1038/nature04601 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1086/378816 http://dx.doi.org/10.1086/378816 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AC011767 http://www.ebi.ac.uk/ena/data/view/AC011767 EMBL AK096305 http://www.ebi.ac.uk/ena/data/view/AK096305 EMBL AK300843 http://www.ebi.ac.uk/ena/data/view/AK300843 EMBL AY732242 http://www.ebi.ac.uk/ena/data/view/AY732242 EMBL BC000957 http://www.ebi.ac.uk/ena/data/view/BC000957 EMBL BC011775 http://www.ebi.ac.uk/ena/data/view/BC011775 EMBL BK001120 http://www.ebi.ac.uk/ena/data/view/BK001120 EMBL CR606982 http://www.ebi.ac.uk/ena/data/view/CR606982 Ensembl ENST00000337451 http://www.ensembl.org/id/ENST00000337451 Ensembl ENST00000359727 http://www.ensembl.org/id/ENST00000359727 Ensembl ENST00000398013 http://www.ensembl.org/id/ENST00000398013 Ensembl ENST00000398014 http://www.ensembl.org/id/ENST00000398014 Ensembl ENST00000539711 http://www.ensembl.org/id/ENST00000539711 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005769 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005769 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0015095 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015095 GO_process GO:0015693 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015693 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GeneCards NIPA2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=NIPA2 GeneID 81614 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=81614 GeneTree ENSGT00550000074395 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074395 HGNC HGNC:17044 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:17044 HOGENOM HOG000203962 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000203962&db=HOGENOM6 HOVERGEN HBG055032 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG055032&db=HOVERGEN HPA HPA067160 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA067160 HPA HPA071342 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA071342 InParanoid Q8N8Q9 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8N8Q9 InterPro IPR008521 http://www.ebi.ac.uk/interpro/entry/IPR008521 Jabion 81614 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=81614 KEGG_Gene hsa:81614 http://www.genome.jp/dbget-bin/www_bget?hsa:81614 MIM 608146 http://www.ncbi.nlm.nih.gov/omim/608146 OMA EWEHMGA http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=EWEHMGA OrthoDB EOG091G0M8A http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0M8A PANTHER PTHR12570 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12570 PSORT swissprot:NIPA2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:NIPA2_HUMAN PSORT-B swissprot:NIPA2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:NIPA2_HUMAN PSORT2 swissprot:NIPA2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:NIPA2_HUMAN Pfam PF05653 http://pfam.xfam.org/family/PF05653 PharmGKB PA134911294 http://www.pharmgkb.org/do/serve?objId=PA134911294&objCls=Gene Phobius swissprot:NIPA2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:NIPA2_HUMAN PhylomeDB Q8N8Q9 http://phylomedb.org/?seqid=Q8N8Q9 ProteinModelPortal Q8N8Q9 http://www.proteinmodelportal.org/query/uniprot/Q8N8Q9 PubMed 14508708 http://www.ncbi.nlm.nih.gov/pubmed/14508708 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16572171 http://www.ncbi.nlm.nih.gov/pubmed/16572171 Reactome R-HSA-5223345 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5223345 RefSeq NP_001008860 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001008860 RefSeq NP_001008892 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001008892 RefSeq NP_001008894 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001008894 RefSeq NP_001171817 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001171817 RefSeq NP_001171818 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001171818 RefSeq NP_112184 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_112184 RefSeq XP_005272603 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005272603 RefSeq XP_005272604 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005272604 RefSeq XP_005272605 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005272605 RefSeq XP_005272607 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005272607 RefSeq XP_005272609 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005272609 RefSeq XP_005272610 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005272610 RefSeq XP_006720427 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006720427 RefSeq XP_006720428 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006720428 RefSeq XP_006720429 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006720429 RefSeq XP_006720430 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006720430 RefSeq XP_011542179 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011542179 RefSeq XP_011542180 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011542180 RefSeq XP_011542181 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011542181 RefSeq XP_011542182 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011542182 RefSeq XP_016878134 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016878134 RefSeq XP_016878135 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016878135 RefSeq XP_016878136 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016878136 RefSeq XP_016878137 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016878137 RefSeq XP_016878138 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016878138 RefSeq XP_016878139 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016878139 RefSeq XP_016878140 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016878140 RefSeq XP_016878141 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016878141 RefSeq XP_016878142 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016878142 RefSeq XP_016878143 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016878143 RefSeq XP_016878144 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016878144 RefSeq XP_016878145 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016878145 RefSeq XP_016878146 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016878146 RefSeq XP_016878147 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016878147 RefSeq XP_016878148 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016878148 RefSeq XP_016878149 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016878149 RefSeq XP_016878150 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016878150 RefSeq XP_016878151 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016878151 RefSeq XP_016878152 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016878152 STRING 9606.ENSP00000337618 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000337618&targetmode=cogs TCDB 2.A.7.25 http://www.tcdb.org/search/result.php?tc=2.A.7.25 UCSC uc001yux http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001yux&org=rat UniGene Hs.591003 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.591003 UniProtKB NIPA2_HUMAN http://www.uniprot.org/uniprot/NIPA2_HUMAN UniProtKB-AC Q8N8Q9 http://www.uniprot.org/uniprot/Q8N8Q9 charge swissprot:NIPA2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:NIPA2_HUMAN eggNOG ENOG410XNR8 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XNR8 eggNOG KOG2922 http://eggnogapi.embl.de/nog_data/html/tree/KOG2922 epestfind swissprot:NIPA2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:NIPA2_HUMAN garnier swissprot:NIPA2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:NIPA2_HUMAN helixturnhelix swissprot:NIPA2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:NIPA2_HUMAN hmoment swissprot:NIPA2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:NIPA2_HUMAN iep swissprot:NIPA2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:NIPA2_HUMAN inforesidue swissprot:NIPA2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:NIPA2_HUMAN neXtProt NX_Q8N8Q9 http://www.nextprot.org/db/entry/NX_Q8N8Q9 octanol swissprot:NIPA2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:NIPA2_HUMAN pepcoil swissprot:NIPA2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:NIPA2_HUMAN pepdigest swissprot:NIPA2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:NIPA2_HUMAN pepinfo swissprot:NIPA2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:NIPA2_HUMAN pepnet swissprot:NIPA2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:NIPA2_HUMAN pepstats swissprot:NIPA2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:NIPA2_HUMAN pepwheel swissprot:NIPA2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:NIPA2_HUMAN pepwindow swissprot:NIPA2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:NIPA2_HUMAN sigcleave swissprot:NIPA2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:NIPA2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS ANO8_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9HCE9-1; Sequence=Displayed; Name=2; IsoId=Q9HCE9-2; Sequence=VSP_020351, VSP_020352; # AltName ANO8_HUMAN Transmembrane protein 16H # CCDS CCDS32949 -. [Q9HCE9-1] # ChiTaRS ANO8 human # Ensembl ENST00000159087 ENSP00000159087; ENSG00000074855. [Q9HCE9-1] # ExpressionAtlas Q9HCE9 baseline and differential # FUNCTION ANO8_HUMAN Does not exhibit calcium-activated chloride channel (CaCC) activity. # GO_component GO:0005622 intracellular; IEA:Ensembl. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0005229 intracellular calcium activated chloride channel activity; IMP:UniProtKB. # GO_process GO:0006821 chloride transport; IMP:UniProtKB. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005622 intracellular # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0055085 transmembrane transport # Genevisible Q9HCE9 HS # HGNC HGNC:29329 ANO8 # InterPro IPR007632 Anoctamin # InterPro IPR031289 Anoctamin-8 # MIM 610216 gene # MISCELLANEOUS ANO8_HUMAN The term 'anoctamin' was coined because these channels are anion selective and have eight (OCT) transmembrane segments. There is some dissatisfaction in the field with the Ano nomenclature because it is not certain that all the members of this family are anion channels or have the 8-transmembrane topology. # Organism ANO8_HUMAN Homo sapiens (Human) # PANTHER PTHR12308 PTHR12308; 2 # PANTHER PTHR12308:SF33 PTHR12308:SF33; 2 # Pfam PF04547 Anoctamin # Proteomes UP000005640 Chromosome 19 # Reactome R-HSA-2672351 Stimuli-sensing channels # RecName ANO8_HUMAN Anoctamin-8 # RefSeq NP_066010 NM_020959.2. [Q9HCE9-1] # RefSeq XP_016882537 XM_017027048.1. [Q9HCE9-2] # SEQUENCE CAUTION Sequence=BAB13449.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the anoctamin family. {ECO 0000305}. # SUBCELLULAR LOCATION ANO8_HUMAN Cell membrane {ECO 0000269|PubMed 20056604, ECO 0000269|PubMed 22946059}; Multi-pass membrane protein {ECO 0000269|PubMed 20056604, ECO 0000269|PubMed 22946059}. Note=Shows predominantly an intracellular localization with a weak expression in the cell membrane. # TISSUE SPECIFICITY Expressed in embryonic stem cells, fetal brain and neural tissues. {ECO:0000269|PubMed 15647853}. # UCSC uc002ngf human. [Q9HCE9-1] # eggNOG ENOG410XPYE LUCA # eggNOG KOG2513 Eukaryota BLAST swissprot:ANO8_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ANO8_HUMAN BioCyc ZFISH:ENSG00000074855-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000074855-MONOMER COXPRESdb 57719 http://coxpresdb.jp/data/gene/57719.shtml CleanEx HS_ANO8 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ANO8 DOI 10.1007/s00424-011-0975-9 http://dx.doi.org/10.1007/s00424-011-0975-9 DOI 10.1016/j.cell.2015.05.028 http://dx.doi.org/10.1016/j.cell.2015.05.028 DOI 10.1038/aps.2011.48 http://dx.doi.org/10.1038/aps.2011.48 DOI 10.1038/nature02399 http://dx.doi.org/10.1038/nature02399 DOI 10.1073/pnas.1210303109 http://dx.doi.org/10.1073/pnas.1210303109 DOI 10.1074/jbc.M109.065367 http://dx.doi.org/10.1074/jbc.M109.065367 DOI 10.1093/dnares/7.4.271 http://dx.doi.org/10.1093/dnares/7.4.271 DOI 10.1093/dnares/9.3.99 http://dx.doi.org/10.1093/dnares/9.3.99 DOI 10.1113/expphysiol.2011.058198 http://dx.doi.org/10.1113/expphysiol.2011.058198 DOI 10.1113/expphysiol.2011.058214 http://dx.doi.org/10.1113/expphysiol.2011.058214 DOI 10.1159/000335765 http://dx.doi.org/10.1159/000335765 DOI 10.1242/jcs.109553 http://dx.doi.org/10.1242/jcs.109553 EMBL AB046843 http://www.ebi.ac.uk/ena/data/view/AB046843 EMBL AC010463 http://www.ebi.ac.uk/ena/data/view/AC010463 EMBL CH471106 http://www.ebi.ac.uk/ena/data/view/CH471106 Ensembl ENST00000159087 http://www.ensembl.org/id/ENST00000159087 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005622 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005622 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005229 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005229 GO_process GO:0006821 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006821 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005622 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005622 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards ANO8 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ANO8 GeneID 57719 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=57719 GeneTree ENSGT00760000119015 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119015 HGNC HGNC:29329 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:29329 HOGENOM HOG000033952 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000033952&db=HOGENOM6 HOVERGEN HBG100443 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG100443&db=HOVERGEN HPA HPA031787 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA031787 HPA HPA049206 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA049206 InParanoid Q9HCE9 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9HCE9 IntAct Q9HCE9 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9HCE9* InterPro IPR007632 http://www.ebi.ac.uk/interpro/entry/IPR007632 InterPro IPR031289 http://www.ebi.ac.uk/interpro/entry/IPR031289 Jabion 57719 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=57719 KEGG_Gene hsa:57719 http://www.genome.jp/dbget-bin/www_bget?hsa:57719 MIM 610216 http://www.ncbi.nlm.nih.gov/omim/610216 OMA ACVFLLM http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=ACVFLLM OrthoDB EOG091G06A3 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G06A3 PANTHER PTHR12308 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12308 PANTHER PTHR12308:SF33 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12308:SF33 PSORT swissprot:ANO8_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ANO8_HUMAN PSORT-B swissprot:ANO8_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ANO8_HUMAN PSORT2 swissprot:ANO8_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ANO8_HUMAN Pfam PF04547 http://pfam.xfam.org/family/PF04547 PharmGKB PA164715790 http://www.pharmgkb.org/do/serve?objId=PA164715790&objCls=Gene Phobius swissprot:ANO8_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ANO8_HUMAN PhylomeDB Q9HCE9 http://phylomedb.org/?seqid=Q9HCE9 ProteinModelPortal Q9HCE9 http://www.proteinmodelportal.org/query/uniprot/Q9HCE9 PubMed 10997877 http://www.ncbi.nlm.nih.gov/pubmed/10997877 PubMed 12168954 http://www.ncbi.nlm.nih.gov/pubmed/12168954 PubMed 15057824 http://www.ncbi.nlm.nih.gov/pubmed/15057824 PubMed 15647853 http://www.ncbi.nlm.nih.gov/pubmed/15647853 PubMed 20056604 http://www.ncbi.nlm.nih.gov/pubmed/20056604 PubMed 21607626 http://www.ncbi.nlm.nih.gov/pubmed/21607626 PubMed 21642943 http://www.ncbi.nlm.nih.gov/pubmed/21642943 PubMed 21984732 http://www.ncbi.nlm.nih.gov/pubmed/21984732 PubMed 22178883 http://www.ncbi.nlm.nih.gov/pubmed/22178883 PubMed 22302790 http://www.ncbi.nlm.nih.gov/pubmed/22302790 PubMed 22814378 http://www.ncbi.nlm.nih.gov/pubmed/22814378 PubMed 22946059 http://www.ncbi.nlm.nih.gov/pubmed/22946059 PubMed 26091039 http://www.ncbi.nlm.nih.gov/pubmed/26091039 Reactome R-HSA-2672351 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2672351 RefSeq NP_066010 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_066010 RefSeq XP_016882537 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016882537 STRING 9606.ENSP00000159087 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000159087&targetmode=cogs UCSC uc002ngf http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002ngf&org=rat UniGene Hs.590990 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.590990 UniProtKB ANO8_HUMAN http://www.uniprot.org/uniprot/ANO8_HUMAN UniProtKB-AC Q9HCE9 http://www.uniprot.org/uniprot/Q9HCE9 charge swissprot:ANO8_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ANO8_HUMAN eggNOG ENOG410XPYE http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XPYE eggNOG KOG2513 http://eggnogapi.embl.de/nog_data/html/tree/KOG2513 epestfind swissprot:ANO8_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ANO8_HUMAN garnier swissprot:ANO8_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ANO8_HUMAN helixturnhelix swissprot:ANO8_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ANO8_HUMAN hmoment swissprot:ANO8_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ANO8_HUMAN iep swissprot:ANO8_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ANO8_HUMAN inforesidue swissprot:ANO8_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ANO8_HUMAN neXtProt NX_Q9HCE9 http://www.nextprot.org/db/entry/NX_Q9HCE9 octanol swissprot:ANO8_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ANO8_HUMAN pepcoil swissprot:ANO8_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ANO8_HUMAN pepdigest swissprot:ANO8_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ANO8_HUMAN pepinfo swissprot:ANO8_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ANO8_HUMAN pepnet swissprot:ANO8_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ANO8_HUMAN pepstats swissprot:ANO8_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ANO8_HUMAN pepwheel swissprot:ANO8_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ANO8_HUMAN pepwindow swissprot:ANO8_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ANO8_HUMAN sigcleave swissprot:ANO8_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ANO8_HUMAN ## Database ID URL or Descriptions # AltName S22A4_HUMAN Ergothioneine transporter # AltName S22A4_HUMAN Organic cation/carnitine transporter 1 # BIOPHYSICOCHEMICAL PROPERTIES S22A4_HUMAN Kinetic parameters KM=0.470 mM for TEA (at 37 degrees Celsius and pH 7.4) {ECO 0000269|PubMed 15459889, ECO 0000269|PubMed 9426230}; Vmax=0.974 nmol/min/mg enzyme toward TEA (at 37 degrees Celsius and pH 7.4) {ECO 0000269|PubMed 15459889, ECO 0000269|PubMed 9426230}; pH dependence More active at neutral and alkaline pHs than at acidic pHs. {ECO 0000269|PubMed 15459889, ECO 0000269|PubMed 9426230}; # CAUTION PubMed:9426230 reported that this protein does not transport carnitine, however, experiments were done with the Phe- 503 variant, which affects the ability to transport carnitine. PubMed 15459889 showed that, although weakly, it can also transport carnitine at some level. Its function in carnitine transport is therefore unclear. {ECO:0000305}. # CDD cd06174 MFS # DISEASE S22A4_HUMAN Rheumatoid arthritis (RA) [MIM 180300] An inflammatory disease with autoimmune features and a complex genetic component. It primarily affects the joints and is characterized by inflammatory changes in the synovial membranes and articular structures, widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, and by atrophy and rarefaction of bony structures. {ECO 0000269|PubMed 14608356}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. # DrugBank DB00122 Choline # DrugBank DB00123 L-Lysine # DrugBank DB00125 L-Arginine # DrugBank DB00127 Spermine # DrugBank DB00184 Nicotine # DrugBank DB00332 Ipratropium bromide # DrugBank DB00345 Aminohippurate # DrugBank DB00458 Imipramine # DrugBank DB00468 Quinine # DrugBank DB00501 Cimetidine # DrugBank DB00536 Guanidine # DrugBank DB00575 Clonidine # DrugBank DB00583 L-Carnitine # DrugBank DB00594 Amiloride # DrugBank DB00624 Testosterone # DrugBank DB00661 Verapamil # DrugBank DB00908 Quinidine # DrugBank DB01035 Procainamide # DrugBank DB01053 Benzylpenicillin # DrugBank DB01137 Levofloxacin # DrugBank DB01151 Desipramine # DrugBank DB01165 Ofloxacin # DrugBank DB01409 Tiotropium # DrugBank DB06691 Mepyramine # Ensembl ENST00000200652 ENSP00000200652; ENSG00000197208 # FUNCTION S22A4_HUMAN Sodium-ion dependent, low affinity carnitine transporter. Probably transports one sodium ion with one molecule of carnitine. Also transports organic cations such as tetraethylammonium (TEA) without the involvement of sodium. Relative uptake activity ratio of carnitine to TEA is 1.78. A key substrate of this transporter seems to be ergothioneine (ET). {ECO 0000269|PubMed 10215651, ECO 0000269|PubMed 15795384}. # GO_component GO:0005739 mitochondrion; IDA:MGI. # GO_component GO:0005886 plasma membrane; IC:BHF-UCL. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0016324 apical plasma membrane; IDA:BHF-UCL. # GO_function GO:0000166 nucleotide binding; TAS:ProtInc. # GO_function GO:0005524 ATP binding; IEA:UniProtKB-KW. # GO_function GO:0008513 secondary active organic cation transmembrane transporter activity; TAS:Reactome. # GO_function GO:0015226 carnitine transmembrane transporter activity; IDA:MGI. # GO_function GO:0015293 symporter activity; IEA:UniProtKB-KW. # GO_function GO:0015651 quaternary ammonium group transmembrane transporter activity; IDA:BHF-UCL. # GO_function GO:0030165 PDZ domain binding; IPI:BHF-UCL. # GO_function S22A4_HUMAN GO 0015491 cation cation antiporter activity; IDA BHF-UCL. # GO_process GO:0006641 triglyceride metabolic process; IEA:Ensembl. # GO_process GO:0006814 sodium ion transport; IEA:UniProtKB-KW. # GO_process GO:0007589 body fluid secretion; TAS:ProtInc. # GO_process GO:0009437 carnitine metabolic process; IBA:GO_Central. # GO_process GO:0015695 organic cation transport; TAS:ProtInc. # GO_process GO:0015697 quaternary ammonium group transport; IDA:BHF-UCL. # GO_process GO:0015879 carnitine transport; IDA:MGI. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005739 mitochondrion # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006629 lipid metabolic process # GOslim_process GO:0006810 transport # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # Genevisible Q9H015 HS # HGNC HGNC:10968 SLC22A4 # INDUCTION Overexpressed upon TNF treatment. {ECO:0000269|PubMed 14608356}. # InterPro IPR004749 Orgcat_transp/SVOP # InterPro IPR005828 MFS_sugar_transport-like # InterPro IPR005829 Sugar_transporter_CS # InterPro IPR020846 MFS_dom # KEGG_Brite ko02000 Transporters # KEGG_Brite ko02001 Solute carrier family # KEGG_Disease H00286 [Immune system disease] Crohn's disease # MIM 180300 phenotype # MIM 604190 gene # Organism S22A4_HUMAN Homo sapiens (Human) # PROSITE PS00216 SUGAR_TRANSPORT_1 # PROSITE PS50850 MFS # Pfam PF00083 Sugar_tr # Proteomes UP000005640 Chromosome 5 # Reactome R-HSA-549127 Organic cation transport # RecName S22A4_HUMAN Solute carrier family 22 member 4 # RefSeq NP_003050 NM_003059.2 # SIMILARITY Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family. {ECO 0000305}. # SUBCELLULAR LOCATION S22A4_HUMAN Membrane; Multi-pass membrane protein. # SUBUNIT Interacts with PDZK1. {ECO 0000250}. # SUPFAM SSF103473 SSF103473 # TCDB 2.A.1.19 the major facilitator superfamily (mfs) # TIGRFAMs TIGR00898 2A0119 # TISSUE SPECIFICITY S22A4_HUMAN Widely expressed. Highly expressed in whole blood, bone marrow, trachea and fetal liver. Weakly expressed in kidney, skeletal muscle, prostate, lung, pancreas, placenta, heart, uterus, spleen and spinal cord. Highly expressed in intestinal cell types affected by Crohn disease, including epithelial cells. Expressed in CD68 macrophage and CD43 T-cells but not in CD20 B-cells. Predominantly expressed in CD14 cells in peripheral blood mononuclear cells. {ECO 0000269|PubMed 14608356, ECO 0000269|PubMed 15107849, ECO 0000269|PubMed 9426230}. # UCSC uc003kwq human # eggNOG ENOG410IRIE Eukaryota # eggNOG ENOG410XSRI LUCA BLAST swissprot:S22A4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S22A4_HUMAN BioCyc ZFISH:ENSG00000072703-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000072703-MONOMER COXPRESdb 6583 http://coxpresdb.jp/data/gene/6583.shtml CleanEx HS_SLC22A4 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC22A4 DOI 10.1002/jps.20190 http://dx.doi.org/10.1002/jps.20190 DOI 10.1007/s100380200088 http://dx.doi.org/10.1007/s100380200088 DOI 10.1016/S0014-5793(97)01441-5 http://dx.doi.org/10.1016/S0014-5793(97)01441-5 DOI 10.1038/nature02919 http://dx.doi.org/10.1038/nature02919 DOI 10.1038/ng1267 http://dx.doi.org/10.1038/ng1267 DOI 10.1038/ng1339 http://dx.doi.org/10.1038/ng1339 DOI 10.1073/pnas.0408624102 http://dx.doi.org/10.1073/pnas.0408624102 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DrugBank DB00122 http://www.drugbank.ca/drugs/DB00122 DrugBank DB00123 http://www.drugbank.ca/drugs/DB00123 DrugBank DB00125 http://www.drugbank.ca/drugs/DB00125 DrugBank DB00127 http://www.drugbank.ca/drugs/DB00127 DrugBank DB00184 http://www.drugbank.ca/drugs/DB00184 DrugBank DB00332 http://www.drugbank.ca/drugs/DB00332 DrugBank DB00345 http://www.drugbank.ca/drugs/DB00345 DrugBank DB00458 http://www.drugbank.ca/drugs/DB00458 DrugBank DB00468 http://www.drugbank.ca/drugs/DB00468 DrugBank DB00501 http://www.drugbank.ca/drugs/DB00501 DrugBank DB00536 http://www.drugbank.ca/drugs/DB00536 DrugBank DB00575 http://www.drugbank.ca/drugs/DB00575 DrugBank DB00583 http://www.drugbank.ca/drugs/DB00583 DrugBank DB00594 http://www.drugbank.ca/drugs/DB00594 DrugBank DB00624 http://www.drugbank.ca/drugs/DB00624 DrugBank DB00661 http://www.drugbank.ca/drugs/DB00661 DrugBank DB00908 http://www.drugbank.ca/drugs/DB00908 DrugBank DB01035 http://www.drugbank.ca/drugs/DB01035 DrugBank DB01053 http://www.drugbank.ca/drugs/DB01053 DrugBank DB01137 http://www.drugbank.ca/drugs/DB01137 DrugBank DB01151 http://www.drugbank.ca/drugs/DB01151 DrugBank DB01165 http://www.drugbank.ca/drugs/DB01165 DrugBank DB01409 http://www.drugbank.ca/drugs/DB01409 DrugBank DB06691 http://www.drugbank.ca/drugs/DB06691 EMBL AB007448 http://www.ebi.ac.uk/ena/data/view/AB007448 EMBL AC008599 http://www.ebi.ac.uk/ena/data/view/AC008599 EMBL AC034220 http://www.ebi.ac.uk/ena/data/view/AC034220 EMBL BC028313 http://www.ebi.ac.uk/ena/data/view/BC028313 EMBL Y09881 http://www.ebi.ac.uk/ena/data/view/Y09881 Ensembl ENST00000200652 http://www.ensembl.org/id/ENST00000200652 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_function GO:0000166 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000166 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0008513 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008513 GO_function GO:0015226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015226 GO_function GO:0015293 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015293 GO_function GO:0015491 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015491 GO_function GO:0015651 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015651 GO_function GO:0030165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030165 GO_process GO:0006641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006641 GO_process GO:0006814 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006814 GO_process GO:0007589 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007589 GO_process GO:0009437 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009437 GO_process GO:0015695 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015695 GO_process GO:0015697 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015697 GO_process GO:0015879 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015879 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006629 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006629 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GeneCards SLC22A4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC22A4 GeneID 6583 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6583 GeneTree ENSGT00760000118852 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118852 H-InvDB HIX0024844 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0024844 HGNC HGNC:10968 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10968 HOGENOM HOG000234570 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000234570&db=HOGENOM6 HOVERGEN HBG061545 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG061545&db=HOVERGEN HPA CAB015468 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB015468 InParanoid Q9H015 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9H015 InterPro IPR004749 http://www.ebi.ac.uk/interpro/entry/IPR004749 InterPro IPR005828 http://www.ebi.ac.uk/interpro/entry/IPR005828 InterPro IPR005829 http://www.ebi.ac.uk/interpro/entry/IPR005829 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 6583 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6583 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Disease H00286 http://www.genome.jp/dbget-bin/www_bget?H00286 KEGG_Gene hsa:6583 http://www.genome.jp/dbget-bin/www_bget?hsa:6583 KEGG_Orthology KO:K08202 http://www.genome.jp/dbget-bin/www_bget?KO:K08202 MIM 180300 http://www.ncbi.nlm.nih.gov/omim/180300 MIM 604190 http://www.ncbi.nlm.nih.gov/omim/604190 OMA IAIMTIM http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=IAIMTIM OrthoDB EOG091G05AC http://cegg.unige.ch/orthodb/results?searchtext=EOG091G05AC PROSITE PS00216 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00216 PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PSORT swissprot:S22A4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S22A4_HUMAN PSORT-B swissprot:S22A4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S22A4_HUMAN PSORT2 swissprot:S22A4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S22A4_HUMAN Pfam PF00083 http://pfam.xfam.org/family/PF00083 PharmGKB PA332 http://www.pharmgkb.org/do/serve?objId=PA332&objCls=Gene Phobius swissprot:S22A4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S22A4_HUMAN PhylomeDB Q9H015 http://phylomedb.org/?seqid=Q9H015 ProteinModelPortal Q9H015 http://www.proteinmodelportal.org/query/uniprot/Q9H015 PubMed 10215651 http://www.ncbi.nlm.nih.gov/pubmed/10215651 PubMed 12436193 http://www.ncbi.nlm.nih.gov/pubmed/12436193 PubMed 14608356 http://www.ncbi.nlm.nih.gov/pubmed/14608356 PubMed 15107849 http://www.ncbi.nlm.nih.gov/pubmed/15107849 PubMed 15372022 http://www.ncbi.nlm.nih.gov/pubmed/15372022 PubMed 15459889 http://www.ncbi.nlm.nih.gov/pubmed/15459889 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15795384 http://www.ncbi.nlm.nih.gov/pubmed/15795384 PubMed 9426230 http://www.ncbi.nlm.nih.gov/pubmed/9426230 Reactome R-HSA-549127 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-549127 RefSeq NP_003050 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_003050 STRING 9606.ENSP00000200652 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000200652&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.1.19 http://www.tcdb.org/search/result.php?tc=2.A.1.19 TIGRFAMs TIGR00898 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00898 UCSC uc003kwq http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003kwq&org=rat UniGene Hs.310591 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.310591 UniProtKB S22A4_HUMAN http://www.uniprot.org/uniprot/S22A4_HUMAN UniProtKB-AC Q9H015 http://www.uniprot.org/uniprot/Q9H015 charge swissprot:S22A4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S22A4_HUMAN eggNOG ENOG410IRIE http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IRIE eggNOG ENOG410XSRI http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XSRI epestfind swissprot:S22A4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S22A4_HUMAN garnier swissprot:S22A4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S22A4_HUMAN helixturnhelix swissprot:S22A4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S22A4_HUMAN hmoment swissprot:S22A4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S22A4_HUMAN iep swissprot:S22A4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S22A4_HUMAN inforesidue swissprot:S22A4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S22A4_HUMAN neXtProt NX_Q9H015 http://www.nextprot.org/db/entry/NX_Q9H015 octanol swissprot:S22A4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S22A4_HUMAN pepcoil swissprot:S22A4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S22A4_HUMAN pepdigest swissprot:S22A4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S22A4_HUMAN pepinfo swissprot:S22A4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S22A4_HUMAN pepnet swissprot:S22A4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S22A4_HUMAN pepstats swissprot:S22A4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S22A4_HUMAN pepwheel swissprot:S22A4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S22A4_HUMAN pepwindow swissprot:S22A4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S22A4_HUMAN sigcleave swissprot:S22A4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S22A4_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS TNPO2_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O14787-1; Sequence=Displayed; Name=2; Synonyms=beta2b; IsoId=O14787-2; Sequence=VSP_009657; Note=No experimental confirmation available.; # AltName TNPO2_HUMAN Karyopherin beta-2b # BioGrid 119024 62 # CCDS CCDS45991 -. [O14787-1] # CCDS CCDS45992 -. [O14787-2] # ChiTaRS TNPO2 human # Ensembl ENST00000356861 ENSP00000349321; ENSG00000105576. [O14787-2] # Ensembl ENST00000425528 ENSP00000407182; ENSG00000105576. [O14787-1] # Ensembl ENST00000450764 ENSP00000397379; ENSG00000105576. [O14787-2] # Ensembl ENST00000588216 ENSP00000465625; ENSG00000105576. [O14787-2] # Ensembl ENST00000592287 ENSP00000468434; ENSG00000105576. [O14787-1] # ExpressionAtlas O14787 baseline and differential # FUNCTION TNPO2_HUMAN Probably functions in nuclear protein import as nuclear transport receptor. Serves as receptor for nuclear localization signals (NLS) in cargo substrates. Is thought to mediate docking of the importin/substrate complex to the nuclear pore complex (NPC) through binding to nucleoporin and the complex is subsequently translocated through the pore by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to the importin, the importin/substrate complex dissociates and importin is re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus (By similarity). {ECO 0000250}. # GO_component GO:0005634 nucleus; TAS:ProtInc. # GO_component GO:0005737 cytoplasm; TAS:ProtInc. # GO_component GO:0031965 nuclear membrane; IBA:GO_Central. # GO_component GO:0034399 nuclear periphery; IBA:GO_Central. # GO_function GO:0008139 nuclear localization sequence binding; TAS:ProtInc. # GO_function GO:0008565 protein transporter activity; IBA:GO_Central. # GO_process GO:0000059 protein import into nucleus, docking; IBA:GO_Central. # GO_process GO:0000060 protein import into nucleus, translocation; IBA:GO_Central. # GO_process GO:0006607 NLS-bearing protein import into nucleus; IBA:GO_Central. # GO_process GO:0006610 ribosomal protein import into nucleus; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005737 cytoplasm # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0008565 protein transporter activity # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # GOslim_process GO:0006913 nucleocytoplasmic transport # Gene3D 1.25.10.10 -; 2. # Genevisible O14787 HS # HGNC HGNC:19998 TNPO2 # INTERACTION TNPO2_HUMAN Q96GX9 APIP; NbExp=3; IntAct=EBI-431907, EBI-359248; Q6P1W5 C1orf94; NbExp=3; IntAct=EBI-431907, EBI-946029; Q13557 CAMK2D; NbExp=3; IntAct=EBI-431907, EBI-351018; Q8IW24 EXOC5; NbExp=3; IntAct=EBI-431907, EBI-10171392; V9HW27 HEL-S-101; NbExp=3; IntAct=EBI-431907, EBI-10178933; O95198 KLHL2; NbExp=3; IntAct=EBI-431907, EBI-746999; P15531 NME1; NbExp=3; IntAct=EBI-431907, EBI-741141; Q96PV4 PNMA5; NbExp=3; IntAct=EBI-431907, EBI-10171633; P54274 TERF1; NbExp=2; IntAct=EBI-431907, EBI-710997; # IntAct O14787 19 # InterPro IPR001494 Importin-beta_N # InterPro IPR011989 ARM-like # InterPro IPR016024 ARM-type_fold # MIM 603002 gene # Organism TNPO2_HUMAN Homo sapiens (Human) # Pfam PF03810 IBN_N # Proteomes UP000005640 Chromosome 19 # RecName TNPO2_HUMAN Transportin-2 # RefSeq NP_001129667 NM_001136195.1. [O14787-2] # RefSeq NP_001129668 NM_001136196.1. [O14787-1] # RefSeq NP_038461 NM_013433.4. [O14787-2] # SIMILARITY Belongs to the importin beta family. Importin beta-2 subfamily. {ECO 0000305}. # SIMILARITY Contains 1 importin N-terminal domain. {ECO 0000305}. # SIMILARITY Contains 20 HEAT repeats. {ECO:0000250|UniProtKB Q92973}. # SMART SM00913 IBN_N # SUBCELLULAR LOCATION TNPO2_HUMAN Cytoplasm {ECO 0000250}. Nucleus {ECO 0000250}. # SUPFAM SSF48371 SSF48371 # TCDB 1.I.1.1 the nuclear pore complex (npc) family # UCSC uc002muo human. [O14787-1] # eggNOG ENOG410XPK2 LUCA # eggNOG KOG2023 Eukaryota BLAST swissprot:TNPO2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:TNPO2_HUMAN BioCyc ZFISH:ENSG00000105576-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000105576-MONOMER COXPRESdb 30000 http://coxpresdb.jp/data/gene/30000.shtml CleanEx HS_TNPO2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_TNPO2 DOI 10.1038/nature02399 http://dx.doi.org/10.1038/nature02399 DOI 10.1056/NEJMoa1206524 http://dx.doi.org/10.1056/NEJMoa1206524 DOI 10.1083/jcb.138.6.1181 http://dx.doi.org/10.1083/jcb.138.6.1181 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1175371 http://dx.doi.org/10.1126/science.1175371 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AC018761 http://www.ebi.ac.uk/ena/data/view/AC018761 EMBL AF007748 http://www.ebi.ac.uk/ena/data/view/AF007748 EMBL AF019039 http://www.ebi.ac.uk/ena/data/view/AF019039 EMBL BC072420 http://www.ebi.ac.uk/ena/data/view/BC072420 EMBL CH471106 http://www.ebi.ac.uk/ena/data/view/CH471106 Ensembl ENST00000356861 http://www.ensembl.org/id/ENST00000356861 Ensembl ENST00000425528 http://www.ensembl.org/id/ENST00000425528 Ensembl ENST00000450764 http://www.ensembl.org/id/ENST00000450764 Ensembl ENST00000588216 http://www.ensembl.org/id/ENST00000588216 Ensembl ENST00000592287 http://www.ensembl.org/id/ENST00000592287 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0031965 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031965 GO_component GO:0034399 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034399 GO_function GO:0008139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008139 GO_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GO_process GO:0000059 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000059 GO_process GO:0000060 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000060 GO_process GO:0006607 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006607 GO_process GO:0006610 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006610 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006913 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006913 Gene3D 1.25.10.10 http://www.cathdb.info/version/latest/superfamily/1.25.10.10 GeneCards TNPO2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=TNPO2 GeneID 30000 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=30000 GeneTree ENSGT00550000074720 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074720 HGNC HGNC:19998 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:19998 HOGENOM HOG000203940 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000203940&db=HOGENOM6 HOVERGEN HBG058963 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG058963&db=HOVERGEN HPA CAB046446 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB046446 InParanoid O14787 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O14787 IntAct O14787 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O14787* InterPro IPR001494 http://www.ebi.ac.uk/interpro/entry/IPR001494 InterPro IPR011989 http://www.ebi.ac.uk/interpro/entry/IPR011989 InterPro IPR016024 http://www.ebi.ac.uk/interpro/entry/IPR016024 Jabion 30000 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=30000 KEGG_Gene hsa:30000 http://www.genome.jp/dbget-bin/www_bget?hsa:30000 MIM 603002 http://www.ncbi.nlm.nih.gov/omim/603002 MINT MINT-2998321 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-2998321 OMA CAMDWQP http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=CAMDWQP OrthoDB EOG091G01O2 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G01O2 PSORT swissprot:TNPO2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:TNPO2_HUMAN PSORT-B swissprot:TNPO2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:TNPO2_HUMAN PSORT2 swissprot:TNPO2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:TNPO2_HUMAN Pfam PF03810 http://pfam.xfam.org/family/PF03810 PharmGKB PA134921349 http://www.pharmgkb.org/do/serve?objId=PA134921349&objCls=Gene Phobius swissprot:TNPO2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:TNPO2_HUMAN PhylomeDB O14787 http://phylomedb.org/?seqid=O14787 ProteinModelPortal O14787 http://www.proteinmodelportal.org/query/uniprot/O14787 PubMed 15057824 http://www.ncbi.nlm.nih.gov/pubmed/15057824 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 19608861 http://www.ncbi.nlm.nih.gov/pubmed/19608861 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 23033978 http://www.ncbi.nlm.nih.gov/pubmed/23033978 PubMed 9298975 http://www.ncbi.nlm.nih.gov/pubmed/9298975 RefSeq NP_001129667 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001129667 RefSeq NP_001129668 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001129668 RefSeq NP_038461 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_038461 SMART SM00913 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00913 SMR O14787 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=O14787 STRING 9606.ENSP00000407182 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000407182&targetmode=cogs SUPFAM SSF48371 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48371 TCDB 1.I.1.1 http://www.tcdb.org/search/result.php?tc=1.I.1.1 UCSC uc002muo http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002muo&org=rat UniGene Hs.416049 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.416049 UniGene Hs.714402 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.714402 UniProtKB TNPO2_HUMAN http://www.uniprot.org/uniprot/TNPO2_HUMAN UniProtKB-AC O14787 http://www.uniprot.org/uniprot/O14787 charge swissprot:TNPO2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:TNPO2_HUMAN eggNOG ENOG410XPK2 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XPK2 eggNOG KOG2023 http://eggnogapi.embl.de/nog_data/html/tree/KOG2023 epestfind swissprot:TNPO2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:TNPO2_HUMAN garnier swissprot:TNPO2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:TNPO2_HUMAN helixturnhelix swissprot:TNPO2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:TNPO2_HUMAN hmoment swissprot:TNPO2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:TNPO2_HUMAN iep swissprot:TNPO2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:TNPO2_HUMAN inforesidue swissprot:TNPO2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:TNPO2_HUMAN neXtProt NX_O14787 http://www.nextprot.org/db/entry/NX_O14787 octanol swissprot:TNPO2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:TNPO2_HUMAN pepcoil swissprot:TNPO2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:TNPO2_HUMAN pepdigest swissprot:TNPO2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:TNPO2_HUMAN pepinfo swissprot:TNPO2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:TNPO2_HUMAN pepnet swissprot:TNPO2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:TNPO2_HUMAN pepstats swissprot:TNPO2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:TNPO2_HUMAN pepwheel swissprot:TNPO2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:TNPO2_HUMAN pepwindow swissprot:TNPO2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:TNPO2_HUMAN sigcleave swissprot:TNPO2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:TNPO2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=Asic2a; IsoId=Q16515-1; Sequence=Displayed; Name=2; Synonyms=Asic2b, MDEG2; IsoId=Q16515-2; Sequence=VSP_015590, VSP_015591; Note=No experimental confirmation available. Ref.4 (CAD38879) sequence is in conflict in position: 67 H->R. {ECO:0000305}; # AltName ASIC2_HUMAN Amiloride-sensitive brain sodium channel # AltName ASIC2_HUMAN Amiloride-sensitive cation channel 1, neuronal # AltName ASIC2_HUMAN Amiloride-sensitive cation channel neuronal 1 # AltName ASIC2_HUMAN Brain sodium channel 1 # AltName ASIC2_HUMAN Mammalian degenerin homolog # BioGrid 106558 4 # CCDS CCDS11276 -. [Q16515-2] # CCDS CCDS42296 -. [Q16515-1] # ChiTaRS ASIC2 human # DrugBank DB00594 Amiloride # Ensembl ENST00000225823 ENSP00000225823; ENSG00000108684. [Q16515-2] # Ensembl ENST00000359872 ENSP00000352934; ENSG00000108684. [Q16515-1] # FUNCTION ASIC2_HUMAN Cation channel with high affinity for sodium, which is gated by extracellular protons and inhibited by the diuretic amiloride. Also permeable for Li(+) and K(+). Generates a biphasic current with a fast inactivating and a slow sustained phase. Heteromeric channel assembly seems to modulate. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0043025 neuronal cell body; IEA:Ensembl. # GO_component GO:0043197 dendritic spine; IEA:Ensembl. # GO_function GO:0015280 ligand-gated sodium channel activity; TAS:ProtInc. # GO_function GO:0022839 ion gated channel activity; IEA:Ensembl. # GO_function GO:0044736 acid-sensing ion channel activity; TAS:Reactome. # GO_process GO:0003026 regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback; IEA:Ensembl. # GO_process GO:0007268 chemical synaptic transmission; TAS:ProtInc. # GO_process GO:0007417 central nervous system development; TAS:ProtInc. # GO_process GO:0007422 peripheral nervous system development; TAS:ProtInc. # GO_process GO:0007602 phototransduction; IEA:Ensembl. # GO_process GO:0007605 sensory perception of sound; IEA:Ensembl. # GO_process GO:0010447 response to acidic pH; IEA:Ensembl. # GO_process GO:0010468 regulation of gene expression; IMP:UniProtKB. # GO_process GO:0015672 monovalent inorganic cation transport; TAS:ProtInc. # GO_process GO:0019229 regulation of vasoconstriction; IEA:Ensembl. # GO_process GO:0030193 regulation of blood coagulation; IMP:UniProtKB. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0034765 regulation of ion transmembrane transport; IEA:Ensembl. # GO_process GO:0035418 protein localization to synapse; IEA:Ensembl. # GO_process GO:0042391 regulation of membrane potential; IEA:Ensembl. # GO_process GO:0043066 negative regulation of apoptotic process; IEA:Ensembl. # GO_process GO:0050915 sensory perception of sour taste; IMP:UniProtKB. # GO_process GO:0050974 detection of mechanical stimulus involved in sensory perception; IEA:Ensembl. # GO_process GO:0051965 positive regulation of synapse assembly; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0003013 circulatory system process # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0050877 neurological system process # GOslim_process GO:0055085 transmembrane transport # Genevisible Q16515 HS # HGNC HGNC:99 ASIC2 # INTERACTION ASIC2_HUMAN Q9NRD5 PICK1; NbExp=3; IntAct=EBI-79149, EBI-79165; # InterPro IPR001873 Na+channel_ASC # InterPro IPR004724 ENaC # InterPro IPR020903 Na+channel_ASC_CS # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04742 Taste transduction # MIM 601784 gene # MISCELLANEOUS Inhibited by anti-inflammatory drugs like salicylic acid (By similarity). Regulated by Zn(2+). {ECO 0000250}. # Organism ASIC2_HUMAN Homo sapiens (Human) # PANTHER PTHR11690 PTHR11690 # PRINTS PR01078 AMINACHANNEL # PROSITE PS01206 ASC # Pfam PF00858 ASC # Proteomes UP000005640 Chromosome 17 # Reactome R-HSA-2672351 Stimuli-sensing channels # RecName ASIC2_HUMAN Acid-sensing ion channel 2 # RefSeq NP_001085 NM_001094.4. [Q16515-1] # RefSeq NP_899233 NM_183377.1. [Q16515-2] # SIMILARITY Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family. ASIC2 subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION ASIC2_HUMAN Cell membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. Note=Localized at the plasma membrane of neurons, in the soma and punctated peripheral processes. {ECO 0000250}. # SUBUNIT ASIC2_HUMAN Homotrimer or heterotrimer with other ASIC proteins (By similarity). Interacts with STOM; this regulates channel activity (By similarity). Interacts with PRKCABP and ASIC3. {ECO 0000250, ECO 0000269|PubMed 10842183, ECO 0000269|PubMed 11802773}. # TIGRFAMs TIGR00859 ENaC # TISSUE SPECIFICITY ASIC2_HUMAN Brain and spinal cord. Isoform 1 is also detected in testis, liver, colon and ovary. {ECO 0000269|PubMed 10842183, ECO 0000269|PubMed 8631835}. # UCSC uc002hht human. [Q16515-1] BLAST swissprot:ASIC2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ASIC2_HUMAN BioCyc ZFISH:ENSG00000108684-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000108684-MONOMER COXPRESdb 40 http://coxpresdb.jp/data/gene/40.shtml CleanEx HS_ACCN1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ACCN1 DOI 10.1038/nature04689 http://dx.doi.org/10.1038/nature04689 DOI 10.1042/0264-6021:3610443 http://dx.doi.org/10.1042/0264-6021:3610443 DOI 10.1073/pnas.94.4.1459 http://dx.doi.org/10.1073/pnas.94.4.1459 DOI 10.1074/jbc.271.14.7879 http://dx.doi.org/10.1074/jbc.271.14.7879 DOI 10.1074/jbc.271.18.10433 http://dx.doi.org/10.1074/jbc.271.18.10433 DOI 10.1074/jbc.M004114200 http://dx.doi.org/10.1074/jbc.M004114200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 DrugBank DB00594 http://www.drugbank.ca/drugs/DB00594 EMBL AC003687 http://www.ebi.ac.uk/ena/data/view/AC003687 EMBL AC004147 http://www.ebi.ac.uk/ena/data/view/AC004147 EMBL AC005549 http://www.ebi.ac.uk/ena/data/view/AC005549 EMBL AC008133 http://www.ebi.ac.uk/ena/data/view/AC008133 EMBL AC011824 http://www.ebi.ac.uk/ena/data/view/AC011824 EMBL AC015751 http://www.ebi.ac.uk/ena/data/view/AC015751 EMBL AC024610 http://www.ebi.ac.uk/ena/data/view/AC024610 EMBL AC024614 http://www.ebi.ac.uk/ena/data/view/AC024614 EMBL AC025898 http://www.ebi.ac.uk/ena/data/view/AC025898 EMBL AC027233 http://www.ebi.ac.uk/ena/data/view/AC027233 EMBL AC078907 http://www.ebi.ac.uk/ena/data/view/AC078907 EMBL AC123769 http://www.ebi.ac.uk/ena/data/view/AC123769 EMBL AL834182 http://www.ebi.ac.uk/ena/data/view/AL834182 EMBL BC075042 http://www.ebi.ac.uk/ena/data/view/BC075042 EMBL BC075043 http://www.ebi.ac.uk/ena/data/view/BC075043 EMBL U50352 http://www.ebi.ac.uk/ena/data/view/U50352 EMBL U53212 http://www.ebi.ac.uk/ena/data/view/U53212 EMBL U57352 http://www.ebi.ac.uk/ena/data/view/U57352 Ensembl ENST00000225823 http://www.ensembl.org/id/ENST00000225823 Ensembl ENST00000359872 http://www.ensembl.org/id/ENST00000359872 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0043025 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043025 GO_component GO:0043197 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043197 GO_function GO:0015280 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015280 GO_function GO:0022839 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022839 GO_function GO:0044736 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044736 GO_process GO:0003026 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003026 GO_process GO:0007268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007268 GO_process GO:0007417 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007417 GO_process GO:0007422 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007422 GO_process GO:0007602 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007602 GO_process GO:0007605 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007605 GO_process GO:0010447 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010447 GO_process GO:0010468 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010468 GO_process GO:0015672 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015672 GO_process GO:0019229 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019229 GO_process GO:0030193 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030193 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0034765 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034765 GO_process GO:0035418 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035418 GO_process GO:0042391 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042391 GO_process GO:0043066 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043066 GO_process GO:0050915 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050915 GO_process GO:0050974 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050974 GO_process GO:0051965 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051965 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0003013 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003013 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards ASIC2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ASIC2 GeneID 40 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=40 GeneTree ENSGT00760000119120 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119120 HGNC HGNC:99 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:99 HOGENOM HOG000247010 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000247010&db=HOGENOM6 HOVERGEN HBG004150 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG004150&db=HOVERGEN HPA HPA052112 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA052112 InParanoid Q16515 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q16515 IntAct Q16515 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q16515* InterPro IPR001873 http://www.ebi.ac.uk/interpro/entry/IPR001873 InterPro IPR004724 http://www.ebi.ac.uk/interpro/entry/IPR004724 InterPro IPR020903 http://www.ebi.ac.uk/interpro/entry/IPR020903 Jabion 40 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=40 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:40 http://www.genome.jp/dbget-bin/www_bget?hsa:40 KEGG_Orthology KO:K04828 http://www.genome.jp/dbget-bin/www_bget?KO:K04828 KEGG_Pathway ko04742 http://www.genome.jp/kegg-bin/show_pathway?ko04742 MIM 601784 http://www.ncbi.nlm.nih.gov/omim/601784 MINT MINT-223746 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-223746 OMA CEHECMA http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=CEHECMA OrthoDB EOG091G053J http://cegg.unige.ch/orthodb/results?searchtext=EOG091G053J PANTHER PTHR11690 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11690 PRINTS PR01078 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01078 PROSITE PS01206 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS01206 PSORT swissprot:ASIC2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ASIC2_HUMAN PSORT-B swissprot:ASIC2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ASIC2_HUMAN PSORT2 swissprot:ASIC2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ASIC2_HUMAN Pfam PF00858 http://pfam.xfam.org/family/PF00858 PharmGKB PA24433 http://www.pharmgkb.org/do/serve?objId=PA24433&objCls=Gene Phobius swissprot:ASIC2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ASIC2_HUMAN PhylomeDB Q16515 http://phylomedb.org/?seqid=Q16515 ProteinModelPortal Q16515 http://www.proteinmodelportal.org/query/uniprot/Q16515 PubMed 10842183 http://www.ncbi.nlm.nih.gov/pubmed/10842183 PubMed 11802773 http://www.ncbi.nlm.nih.gov/pubmed/11802773 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16625196 http://www.ncbi.nlm.nih.gov/pubmed/16625196 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 PubMed 8626462 http://www.ncbi.nlm.nih.gov/pubmed/8626462 PubMed 8631835 http://www.ncbi.nlm.nih.gov/pubmed/8631835 PubMed 9037075 http://www.ncbi.nlm.nih.gov/pubmed/9037075 Reactome R-HSA-2672351 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2672351 RefSeq NP_001085 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001085 RefSeq NP_899233 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_899233 SMR Q16515 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q16515 TIGRFAMs TIGR00859 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00859 UCSC uc002hht http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002hht&org=rat UniGene Hs.368417 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.368417 UniProtKB ASIC2_HUMAN http://www.uniprot.org/uniprot/ASIC2_HUMAN UniProtKB-AC Q16515 http://www.uniprot.org/uniprot/Q16515 charge swissprot:ASIC2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ASIC2_HUMAN epestfind swissprot:ASIC2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ASIC2_HUMAN garnier swissprot:ASIC2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ASIC2_HUMAN helixturnhelix swissprot:ASIC2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ASIC2_HUMAN hmoment swissprot:ASIC2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ASIC2_HUMAN iep swissprot:ASIC2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ASIC2_HUMAN inforesidue swissprot:ASIC2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ASIC2_HUMAN neXtProt NX_Q16515 http://www.nextprot.org/db/entry/NX_Q16515 octanol swissprot:ASIC2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ASIC2_HUMAN pepcoil swissprot:ASIC2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ASIC2_HUMAN pepdigest swissprot:ASIC2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ASIC2_HUMAN pepinfo swissprot:ASIC2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ASIC2_HUMAN pepnet swissprot:ASIC2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ASIC2_HUMAN pepstats swissprot:ASIC2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ASIC2_HUMAN pepwheel swissprot:ASIC2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ASIC2_HUMAN pepwindow swissprot:ASIC2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ASIC2_HUMAN sigcleave swissprot:ASIC2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ASIC2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS KCNG1_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9UIX4-1; Sequence=Displayed; Name=2; IsoId=Q9UIX4-2; Sequence=VSP_001024, VSP_001025; Note=No experimental confirmation available.; # AltName KCNG1_HUMAN Voltage-gated potassium channel subunit Kv6.1 # AltName KCNG1_HUMAN kH2 # BioGrid 109957 4 # CCDS CCDS13436 -. [Q9UIX4-1] # ChiTaRS KCNG1 human # DOMAIN KCNG1_HUMAN The transmembrane segment S4 functions as voltage-sensor and is characterized by a series of positively charged amino acids at every third position. Channel opening and closing is effected by a conformation change that affects the position and orientation of the voltage-sensor paddle formed by S3 and S4 within the membrane. A transmembrane electric field that is positive inside would push the positively charged S4 segment outwards, thereby opening the pore, while a field that is negative inside would pull the S4 segment inwards and close the pore. Changes in the position and orientation of S4 are then transmitted to the activation gate formed by the inner helix bundle via the S4-S5 linker region. {ECO 0000250|UniProtKB P63142}. # Ensembl ENST00000371571 ENSP00000360626; ENSG00000026559. [Q9UIX4-1] # ExpressionAtlas Q9UIX4 baseline and differential # FUNCTION KCNG1_HUMAN Potassium channel subunit that does not form functional channels by itself. Can form functional heterotetrameric channels with KCNB1; modulates the delayed rectifier voltage-gated potassium channel activation and deactivation rates of KCNB1 (PubMed 19074135). {ECO 0000269|PubMed 19074135}. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0008076 voltage-gated potassium channel complex; IEA:Ensembl. # GO_component GO:0043231 intracellular membrane-bounded organelle; IDA:HPA. # GO_function GO:0005251 delayed rectifier potassium channel activity; IDA:UniProtKB. # GO_function GO:0005267 potassium channel activity; NAS:UniProtKB. # GO_process GO:0006813 potassium ion transport; NAS:UniProtKB. # GO_process GO:0051260 protein homooligomerization; IEA:InterPro. # GO_process GO:0071805 potassium ion transmembrane transport; IDA:UniProtKB. # GO_process GO:1902259 regulation of delayed rectifier potassium channel activity; ISS:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.20.120.350 -; 1. # Genevisible Q9UIX4 HS # HGNC HGNC:6248 KCNG1 # InterPro IPR000210 BTB/POZ_dom # InterPro IPR003131 T1-type_BTB # InterPro IPR003968 K_chnl_volt-dep_Kv # InterPro IPR003969 K_chnl_volt-dep_Kv6 # InterPro IPR005821 Ion_trans_dom # InterPro IPR011333 SKP1/BTB/POZ # InterPro IPR027359 Channel_four-helix_dom # InterPro IPR028325 VG_K_chnl # KEGG_Brite ko04040 Ion channels # MIM 603788 gene # Organism KCNG1_HUMAN Homo sapiens (Human) # PANTHER PTHR11537 PTHR11537 # PIR JC5920 JC5920 # PRINTS PR00169 KCHANNEL # PRINTS PR01491 KVCHANNEL # PRINTS PR01492 KV6CHANNEL # Pfam PF00520 Ion_trans # Pfam PF02214 BTB_2 # Proteomes UP000005640 Chromosome 20 # Reactome R-HSA-1296072 Voltage gated Potassium channels # RecName KCNG1_HUMAN Potassium voltage-gated channel subfamily G member 1 # RefSeq NP_002228 NM_002237.3. [Q9UIX4-1] # RefSeq XP_006723848 XM_006723785.2. [Q9UIX4-1] # RefSeq XP_011527102 XM_011528800.1. [Q9UIX4-1] # RefSeq XP_011527103 XM_011528801.1. [Q9UIX4-1] # RefSeq XP_011527104 XM_011528802.1. [Q9UIX4-1] # RefSeq XP_011527105 XM_011528803.2. [Q9UIX4-1] # RefSeq XP_011527106 XM_011528804.1. [Q9UIX4-1] # RefSeq XP_011527107 XM_011528805.2. [Q9UIX4-1] # RefSeq XP_011527108 XM_011528806.1. [Q9UIX4-1] # SIMILARITY Belongs to the potassium channel family. G (TC 1.A.1.2) subfamily. Kv6.1/KCNG1 sub-subfamily. {ECO 0000305}. # SMART SM00225 BTB # SUBCELLULAR LOCATION KCNG1_HUMAN Cell membrane {ECO 0000269|PubMed 19074135}; Multi-pass membrane protein {ECO 0000305}. Note=Colocalizes with KCNB1 at the plasma membrane (PubMed 19074135). {ECO 0000269|PubMed 19074135}. # SUBUNIT Heterotetramer with KCNB1 (PubMed:19074135). {ECO 0000269|PubMed:19074135}. # SUPFAM SSF54695 SSF54695 # TISSUE SPECIFICITY Expressed in brain and placenta, and at much lower levels in kidney and pancreas (PubMed:9434767). {ECO 0000269|PubMed:9434767}. # UCSC uc002xwa human. [Q9UIX4-1] # eggNOG COG1226 LUCA # eggNOG KOG3713 Eukaryota BLAST swissprot:KCNG1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCNG1_HUMAN BioCyc ZFISH:ENSG00000026559-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000026559-MONOMER COXPRESdb 3755 http://coxpresdb.jp/data/gene/3755.shtml CleanEx HS_KCNG1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNG1 DOI 10.1006/bbrc.1997.7830 http://dx.doi.org/10.1006/bbrc.1997.7830 DOI 10.1038/414865a http://dx.doi.org/10.1038/414865a DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.M808786200 http://dx.doi.org/10.1074/jbc.M808786200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AF033383 http://www.ebi.ac.uk/ena/data/view/AF033383 EMBL AK290689 http://www.ebi.ac.uk/ena/data/view/AK290689 EMBL AL050404 http://www.ebi.ac.uk/ena/data/view/AL050404 EMBL AL050404 http://www.ebi.ac.uk/ena/data/view/AL050404 EMBL AL121785 http://www.ebi.ac.uk/ena/data/view/AL121785 EMBL BC006367 http://www.ebi.ac.uk/ena/data/view/BC006367 EMBL CH471077 http://www.ebi.ac.uk/ena/data/view/CH471077 Ensembl ENST00000371571 http://www.ensembl.org/id/ENST00000371571 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0008076 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008076 GO_component GO:0043231 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043231 GO_function GO:0005251 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005251 GO_function GO:0005267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005267 GO_process GO:0006813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006813 GO_process GO:0051260 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051260 GO_process GO:0071805 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071805 GO_process GO:1902259 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902259 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.20.120.350 http://www.cathdb.info/version/latest/superfamily/1.20.120.350 GeneCards KCNG1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNG1 GeneID 3755 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=3755 GeneTree ENSGT00760000118981 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118981 H-InvDB HIX0015916 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0015916 HGNC HGNC:6248 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6248 HOGENOM HOG000231014 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231014&db=HOGENOM6 HOVERGEN HBG100172 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG100172&db=HOVERGEN HPA HPA039530 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA039530 HPA HPA040024 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA040024 InParanoid Q9UIX4 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9UIX4 IntAct Q9UIX4 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9UIX4* InterPro IPR000210 http://www.ebi.ac.uk/interpro/entry/IPR000210 InterPro IPR003131 http://www.ebi.ac.uk/interpro/entry/IPR003131 InterPro IPR003968 http://www.ebi.ac.uk/interpro/entry/IPR003968 InterPro IPR003969 http://www.ebi.ac.uk/interpro/entry/IPR003969 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR011333 http://www.ebi.ac.uk/interpro/entry/IPR011333 InterPro IPR027359 http://www.ebi.ac.uk/interpro/entry/IPR027359 InterPro IPR028325 http://www.ebi.ac.uk/interpro/entry/IPR028325 Jabion 3755 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=3755 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:3755 http://www.genome.jp/dbget-bin/www_bget?hsa:3755 KEGG_Orthology KO:K04900 http://www.genome.jp/dbget-bin/www_bget?KO:K04900 MIM 603788 http://www.ncbi.nlm.nih.gov/omim/603788 OMA GQCSQMC http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=GQCSQMC OrthoDB EOG091G05DD http://cegg.unige.ch/orthodb/results?searchtext=EOG091G05DD PANTHER PTHR11537 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11537 PRINTS PR00169 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00169 PRINTS PR01491 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01491 PRINTS PR01492 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01492 PSORT swissprot:KCNG1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCNG1_HUMAN PSORT-B swissprot:KCNG1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCNG1_HUMAN PSORT2 swissprot:KCNG1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCNG1_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF02214 http://pfam.xfam.org/family/PF02214 PharmGKB PA30034 http://www.pharmgkb.org/do/serve?objId=PA30034&objCls=Gene Phobius swissprot:KCNG1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCNG1_HUMAN PhylomeDB Q9UIX4 http://phylomedb.org/?seqid=Q9UIX4 ProteinModelPortal Q9UIX4 http://www.proteinmodelportal.org/query/uniprot/Q9UIX4 PubMed 11780052 http://www.ncbi.nlm.nih.gov/pubmed/11780052 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 19074135 http://www.ncbi.nlm.nih.gov/pubmed/19074135 PubMed 9434767 http://www.ncbi.nlm.nih.gov/pubmed/9434767 Reactome R-HSA-1296072 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1296072 RefSeq NP_002228 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_002228 RefSeq XP_006723848 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006723848 RefSeq XP_011527102 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011527102 RefSeq XP_011527103 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011527103 RefSeq XP_011527104 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011527104 RefSeq XP_011527105 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011527105 RefSeq XP_011527106 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011527106 RefSeq XP_011527107 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011527107 RefSeq XP_011527108 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011527108 SMART SM00225 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00225 STRING 9606.ENSP00000360626 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000360626&targetmode=cogs SUPFAM SSF54695 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF54695 UCSC uc002xwa http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002xwa&org=rat UniGene Hs.118695 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.118695 UniGene Hs.735151 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.735151 UniProtKB KCNG1_HUMAN http://www.uniprot.org/uniprot/KCNG1_HUMAN UniProtKB-AC Q9UIX4 http://www.uniprot.org/uniprot/Q9UIX4 charge swissprot:KCNG1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCNG1_HUMAN eggNOG COG1226 http://eggnogapi.embl.de/nog_data/html/tree/COG1226 eggNOG KOG3713 http://eggnogapi.embl.de/nog_data/html/tree/KOG3713 epestfind swissprot:KCNG1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCNG1_HUMAN garnier swissprot:KCNG1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCNG1_HUMAN helixturnhelix swissprot:KCNG1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCNG1_HUMAN hmoment swissprot:KCNG1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCNG1_HUMAN iep swissprot:KCNG1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCNG1_HUMAN inforesidue swissprot:KCNG1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCNG1_HUMAN neXtProt NX_Q9UIX4 http://www.nextprot.org/db/entry/NX_Q9UIX4 octanol swissprot:KCNG1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCNG1_HUMAN pepcoil swissprot:KCNG1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCNG1_HUMAN pepdigest swissprot:KCNG1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCNG1_HUMAN pepinfo swissprot:KCNG1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCNG1_HUMAN pepnet swissprot:KCNG1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCNG1_HUMAN pepstats swissprot:KCNG1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCNG1_HUMAN pepwheel swissprot:KCNG1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCNG1_HUMAN pepwindow swissprot:KCNG1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCNG1_HUMAN sigcleave swissprot:KCNG1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCNG1_HUMAN ## Database ID URL or Descriptions # AltName NTCP_HUMAN Cell growth-inhibiting gene 29 protein # AltName NTCP_HUMAN Na(+)/bile acid cotransporter # AltName NTCP_HUMAN Na(+)/taurocholate transport protein # AltName NTCP_HUMAN Sodium/taurocholate cotransporting polypeptide # AltName NTCP_HUMAN Solute carrier family 10 member 1 # DrugBank DB00091 Cyclosporine # DrugBank DB00279 Liothyronine # DrugBank DB00286 Conjugated Estrogens # DrugBank DB00328 Indomethacin # DrugBank DB00396 Progesterone # DrugBank DB00624 Testosterone # DrugBank DB00887 Bumetanide # DrugBank DB00977 Ethinyl Estradiol # DrugBank DB01032 Probenecid # DrugBank DB01583 Liotrix # DrugBank DB01586 Ursodeoxycholic acid # DrugBank DB02659 Cholic Acid # DrugBank DB03619 Deoxycholic Acid # DrugBank DB08860 Pitavastatin # Ensembl ENST00000216540 ENSP00000216540; ENSG00000100652 # FUNCTION NTCP_HUMAN (Microbial infection) Acts as a receptor for hepatitis B virus. {ECO 0000269|PubMed 23150796}. # FUNCTION NTCP_HUMAN The hepatic sodium/bile acid uptake system exhibits broad substrate specificity and transports various non-bile acid organic compounds as well. It is strictly dependent on the extracellular presence of sodium. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0016323 basolateral plasma membrane; IEA:Ensembl. # GO_function GO:0001618 virus receptor activity; IEA:UniProtKB-KW. # GO_function NTCP_HUMAN GO 0008508 bile acid sodium symporter activity; TAS Reactome. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0015721 bile acid and bile salt transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # Genevisible Q14973 HS # HGNC HGNC:10905 SLC10A1 # InterPro IPR002657:BilAc Na_symport/Acr3 # InterPro IPR004710:Bilac Na_transpt # InterPro IPR030208 SLC10A1 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02001 Solute carrier family # KEGG_Pathway ko04976 Bile secretion # MIM 182396 gene # Organism NTCP_HUMAN Homo sapiens (Human) # PANTHER PTHR10361 PTHR10361 # PANTHER PTHR10361:SF40 PTHR10361:SF40 # PIR I55601 I55601 # Pfam PF01758 SBF # Proteomes UP000005640 Chromosome 14 # Reactome R-HSA-159418 Recycling of bile acids and salts # RecName NTCP_HUMAN Sodium/bile acid cotransporter # RefSeq NP_003040 NM_003049.3 # SIMILARITY Belongs to the bile acid:sodium symporter (BASS) (TC 2.A.28) family. {ECO 0000305}. # SUBCELLULAR LOCATION NTCP_HUMAN Membrane; Multi-pass membrane protein. # SUBUNIT (Microbial infection) Interacts with hepatitis B virus large envelope protein. {ECO:0000269|PubMed 23150796}. # TCDB 2.A.28.1:the bile acid na(+) symporter (bass) family # TIGRFAMs TIGR00841 bass # UCSC uc001xlr human # eggNOG COG0385 LUCA # eggNOG KOG2718 Eukaryota BLAST swissprot:NTCP_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:NTCP_HUMAN BioCyc ZFISH:ENSG00000100652-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000100652-MONOMER COXPRESdb 6554 http://coxpresdb.jp/data/gene/6554.shtml CleanEx HS_SLC10A1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC10A1 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1172/JCI117091 http://dx.doi.org/10.1172/JCI117091 DOI 10.7554/eLife.00049 http://dx.doi.org/10.7554/eLife.00049 DrugBank DB00091 http://www.drugbank.ca/drugs/DB00091 DrugBank DB00279 http://www.drugbank.ca/drugs/DB00279 DrugBank DB00286 http://www.drugbank.ca/drugs/DB00286 DrugBank DB00328 http://www.drugbank.ca/drugs/DB00328 DrugBank DB00396 http://www.drugbank.ca/drugs/DB00396 DrugBank DB00624 http://www.drugbank.ca/drugs/DB00624 DrugBank DB00887 http://www.drugbank.ca/drugs/DB00887 DrugBank DB00977 http://www.drugbank.ca/drugs/DB00977 DrugBank DB01032 http://www.drugbank.ca/drugs/DB01032 DrugBank DB01583 http://www.drugbank.ca/drugs/DB01583 DrugBank DB01586 http://www.drugbank.ca/drugs/DB01586 DrugBank DB02659 http://www.drugbank.ca/drugs/DB02659 DrugBank DB03619 http://www.drugbank.ca/drugs/DB03619 DrugBank DB08860 http://www.drugbank.ca/drugs/DB08860 EMBL AY544127 http://www.ebi.ac.uk/ena/data/view/AY544127 EMBL BC069799 http://www.ebi.ac.uk/ena/data/view/BC069799 EMBL BC069822 http://www.ebi.ac.uk/ena/data/view/BC069822 EMBL BC074724 http://www.ebi.ac.uk/ena/data/view/BC074724 EMBL BC126298 http://www.ebi.ac.uk/ena/data/view/BC126298 EMBL BC136355 http://www.ebi.ac.uk/ena/data/view/BC136355 EMBL CH471061 http://www.ebi.ac.uk/ena/data/view/CH471061 EMBL L21893 http://www.ebi.ac.uk/ena/data/view/L21893 Ensembl ENST00000216540 http://www.ensembl.org/id/ENST00000216540 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016323 GO_function GO:0001618 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001618 GO_function GO:0008508 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008508 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0015721 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015721 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GeneCards SLC10A1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC10A1 GeneID 6554 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6554 GeneTree ENSGT00550000074505 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074505 HGNC HGNC:10905 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10905 HOGENOM HOG000234524 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000234524&db=HOGENOM6 HOVERGEN HBG101123 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG101123&db=HOVERGEN HPA HPA042727 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA042727 InParanoid Q14973 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q14973 IntAct Q14973 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q14973* InterPro IPR002657 http://www.ebi.ac.uk/interpro/entry/IPR002657 InterPro IPR004710 http://www.ebi.ac.uk/interpro/entry/IPR004710 InterPro IPR030208 http://www.ebi.ac.uk/interpro/entry/IPR030208 Jabion 6554 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6554 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:6554 http://www.genome.jp/dbget-bin/www_bget?hsa:6554 KEGG_Orthology KO:K14341 http://www.genome.jp/dbget-bin/www_bget?KO:K14341 KEGG_Pathway ko04976 http://www.genome.jp/kegg-bin/show_pathway?ko04976 MIM 182396 http://www.ncbi.nlm.nih.gov/omim/182396 OMA KIKAHFW http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=KIKAHFW OrthoDB EOG091G0GT5 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0GT5 PANTHER PTHR10361 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10361 PANTHER PTHR10361:SF40 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10361:SF40 PSORT swissprot:NTCP_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:NTCP_HUMAN PSORT-B swissprot:NTCP_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:NTCP_HUMAN PSORT2 swissprot:NTCP_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:NTCP_HUMAN Pfam PF01758 http://pfam.xfam.org/family/PF01758 PharmGKB PA317 http://www.pharmgkb.org/do/serve?objId=PA317&objCls=Gene Phobius swissprot:NTCP_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:NTCP_HUMAN PhylomeDB Q14973 http://phylomedb.org/?seqid=Q14973 ProteinModelPortal Q14973 http://www.proteinmodelportal.org/query/uniprot/Q14973 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 23150796 http://www.ncbi.nlm.nih.gov/pubmed/23150796 PubMed 8132774 http://www.ncbi.nlm.nih.gov/pubmed/8132774 Reactome R-HSA-159418 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-159418 RefSeq NP_003040 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_003040 STRING 9606.ENSP00000216540 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000216540&targetmode=cogs TCDB 2.A.28.1 http://www.tcdb.org/search/result.php?tc=2.A.28.1 TIGRFAMs TIGR00841 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00841 UCSC uc001xlr http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001xlr&org=rat UniGene Hs.952 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.952 UniProtKB NTCP_HUMAN http://www.uniprot.org/uniprot/NTCP_HUMAN UniProtKB-AC Q14973 http://www.uniprot.org/uniprot/Q14973 charge swissprot:NTCP_HUMAN http://rest.g-language.org/emboss/charge/swissprot:NTCP_HUMAN eggNOG COG0385 http://eggnogapi.embl.de/nog_data/html/tree/COG0385 eggNOG KOG2718 http://eggnogapi.embl.de/nog_data/html/tree/KOG2718 epestfind swissprot:NTCP_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:NTCP_HUMAN garnier swissprot:NTCP_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:NTCP_HUMAN helixturnhelix swissprot:NTCP_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:NTCP_HUMAN hmoment swissprot:NTCP_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:NTCP_HUMAN iep swissprot:NTCP_HUMAN http://rest.g-language.org/emboss/iep/swissprot:NTCP_HUMAN inforesidue swissprot:NTCP_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:NTCP_HUMAN neXtProt NX_Q14973 http://www.nextprot.org/db/entry/NX_Q14973 octanol swissprot:NTCP_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:NTCP_HUMAN pepcoil swissprot:NTCP_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:NTCP_HUMAN pepdigest swissprot:NTCP_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:NTCP_HUMAN pepinfo swissprot:NTCP_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:NTCP_HUMAN pepnet swissprot:NTCP_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:NTCP_HUMAN pepstats swissprot:NTCP_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:NTCP_HUMAN pepwheel swissprot:NTCP_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:NTCP_HUMAN pepwindow swissprot:NTCP_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:NTCP_HUMAN sigcleave swissprot:NTCP_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:NTCP_HUMAN ## Database ID URL or Descriptions # DOMAIN AQP8_HUMAN Aquaporins contain two tandem repeats each containing three membrane-spanning domains and a pore-forming loop with the signature motif Asn-Pro-Ala (NPA). # Ensembl ENST00000219660 ENSP00000219660; ENSG00000103375 # ExpressionAtlas O94778 baseline and differential # FUNCTION AQP8_HUMAN Forms a water-specific channel; mercury-sensitive. Not permeable to glycerol or urea. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0045177 apical part of cell; IDA:UniProtKB. # GO_function GO:0015250 water channel activity; EXP:Reactome. # GO_function GO:0015254 glycerol channel activity; IBA:GO_Central. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0006833 water transport; TAS:Reactome. # GO_process GO:0009992 cellular water homeostasis; IBA:GO_Central. # GO_process GO:0034220 ion transmembrane transport; IBA:GO_Central. # GO_process GO:0071320 cellular response to cAMP; IEP:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.20.1080.10 -; 1. # Genevisible O94778 HS # HGNC HGNC:642 AQP8 # InterPro IPR000425 MIP # InterPro IPR022357 MIP_CS # InterPro IPR023271 Aquaporin-like # InterPro IPR023277 Aquaporin_8 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04976 Bile secretion # MIM 603750 gene # Organism AQP8_HUMAN Homo sapiens (Human) # PANTHER PTHR19139 PTHR19139 # PRINTS PR00783 MINTRINSICP # PRINTS PR02020 AQUAPORIN8 # PROSITE PS00221 MIP # Pfam PF00230 MIP # Proteomes UP000005640 Chromosome 16 # Reactome R-HSA-3299685 Detoxification of Reactive Oxygen Species # Reactome R-HSA-432047 Passive transport by Aquaporins # RecName AQP8_HUMAN Aquaporin-8 # RefSeq NP_001160 NM_001169.2 # SIMILARITY Belongs to the MIP/aquaporin (TC 1.A.8) family. {ECO 0000305}. # SUBCELLULAR LOCATION AQP8_HUMAN Membrane; Multi-pass membrane protein. # SUPFAM SSF81338 SSF81338 # TCDB 1.A.8.16 the major intrinsic protein (mip) family # TISSUE SPECIFICITY AQP8_HUMAN Expressed only in pancreas and colon. # UCSC uc002doc human # eggNOG COG0580 LUCA # eggNOG KOG0223 Eukaryota BLAST swissprot:AQP8_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:AQP8_HUMAN BioCyc ZFISH:ENSG00000103375-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000103375-MONOMER COXPRESdb 343 http://coxpresdb.jp/data/gene/343.shtml CleanEx HS_AQP8 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_AQP8 DOI 10.1006/geno.1998.5552 http://dx.doi.org/10.1006/geno.1998.5552 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1133427 http://dx.doi.org/10.1126/science.1133427 EMBL AB013456 http://www.ebi.ac.uk/ena/data/view/AB013456 EMBL AF067797 http://www.ebi.ac.uk/ena/data/view/AF067797 EMBL BC040630 http://www.ebi.ac.uk/ena/data/view/BC040630 Ensembl ENST00000219660 http://www.ensembl.org/id/ENST00000219660 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0045177 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045177 GO_function GO:0015250 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015250 GO_function GO:0015254 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015254 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0006833 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006833 GO_process GO:0009992 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009992 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0071320 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071320 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.20.1080.10 http://www.cathdb.info/version/latest/superfamily/1.20.1080.10 GeneCards AQP8 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=AQP8 GeneID 343 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=343 GeneTree ENSGT00760000119223 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119223 HGNC HGNC:642 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:642 HOGENOM HOG000288286 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000288286&db=HOGENOM6 HOVERGEN HBG100478 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG100478&db=HOVERGEN HPA HPA046259 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA046259 InParanoid O94778 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O94778 InterPro IPR000425 http://www.ebi.ac.uk/interpro/entry/IPR000425 InterPro IPR022357 http://www.ebi.ac.uk/interpro/entry/IPR022357 InterPro IPR023271 http://www.ebi.ac.uk/interpro/entry/IPR023271 InterPro IPR023277 http://www.ebi.ac.uk/interpro/entry/IPR023277 Jabion 343 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=343 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:343 http://www.genome.jp/dbget-bin/www_bget?hsa:343 KEGG_Orthology KO:K09869 http://www.genome.jp/dbget-bin/www_bget?KO:K09869 KEGG_Pathway ko04976 http://www.genome.jp/kegg-bin/show_pathway?ko04976 MIM 603750 http://www.ncbi.nlm.nih.gov/omim/603750 OMA WYERLVQ http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=WYERLVQ OrthoDB EOG091G166T http://cegg.unige.ch/orthodb/results?searchtext=EOG091G166T PANTHER PTHR19139 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR19139 PRINTS PR00783 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00783 PRINTS PR02020 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR02020 PROSITE PS00221 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00221 PSORT swissprot:AQP8_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:AQP8_HUMAN PSORT-B swissprot:AQP8_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:AQP8_HUMAN PSORT2 swissprot:AQP8_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:AQP8_HUMAN Pfam PF00230 http://pfam.xfam.org/family/PF00230 PharmGKB PA24926 http://www.pharmgkb.org/do/serve?objId=PA24926&objCls=Gene Phobius swissprot:AQP8_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:AQP8_HUMAN PhylomeDB O94778 http://phylomedb.org/?seqid=O94778 ProteinModelPortal O94778 http://www.proteinmodelportal.org/query/uniprot/O94778 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16959974 http://www.ncbi.nlm.nih.gov/pubmed/16959974 PubMed 9806845 http://www.ncbi.nlm.nih.gov/pubmed/9806845 Reactome R-HSA-3299685 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-3299685 Reactome R-HSA-432047 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-432047 RefSeq NP_001160 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001160 SMR O94778 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=O94778 STRING 9606.ENSP00000219660 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000219660&targetmode=cogs SUPFAM SSF81338 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81338 TCDB 1.A.8.16 http://www.tcdb.org/search/result.php?tc=1.A.8.16 UCSC uc002doc http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002doc&org=rat UniGene Hs.176658 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.176658 UniProtKB AQP8_HUMAN http://www.uniprot.org/uniprot/AQP8_HUMAN UniProtKB-AC O94778 http://www.uniprot.org/uniprot/O94778 charge swissprot:AQP8_HUMAN http://rest.g-language.org/emboss/charge/swissprot:AQP8_HUMAN eggNOG COG0580 http://eggnogapi.embl.de/nog_data/html/tree/COG0580 eggNOG KOG0223 http://eggnogapi.embl.de/nog_data/html/tree/KOG0223 epestfind swissprot:AQP8_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:AQP8_HUMAN garnier swissprot:AQP8_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:AQP8_HUMAN helixturnhelix swissprot:AQP8_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:AQP8_HUMAN hmoment swissprot:AQP8_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:AQP8_HUMAN iep swissprot:AQP8_HUMAN http://rest.g-language.org/emboss/iep/swissprot:AQP8_HUMAN inforesidue swissprot:AQP8_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:AQP8_HUMAN neXtProt NX_O94778 http://www.nextprot.org/db/entry/NX_O94778 octanol swissprot:AQP8_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:AQP8_HUMAN pepcoil swissprot:AQP8_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:AQP8_HUMAN pepdigest swissprot:AQP8_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:AQP8_HUMAN pepinfo swissprot:AQP8_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:AQP8_HUMAN pepnet swissprot:AQP8_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:AQP8_HUMAN pepstats swissprot:AQP8_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:AQP8_HUMAN pepwheel swissprot:AQP8_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:AQP8_HUMAN pepwindow swissprot:AQP8_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:AQP8_HUMAN sigcleave swissprot:AQP8_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:AQP8_HUMAN ## Database ID URL or Descriptions # AltName CXB3_HUMAN Connexin-31 # BioGrid 108973 2 # ChiTaRS GJB3 human # DISEASE CXB3_HUMAN Deafness, autosomal dominant, 2B (DFNA2B) [MIM 612644] A form of non-syndromic sensorineural deafness characterized by progressive high frequency hearing loss in adulthood, with milder expression in females. {ECO 0000269|PubMed 9843210}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE CXB3_HUMAN Erythrokeratodermia variabilis (EKV) [MIM 133200] A genodermatosis characterized by the appearance of two independent skin lesions transient figurate erythematous patches and hyperkeratosis that is usually localized but occasionally occurs in its generalized form. Clinical presentation varies significantly within a family and from one family to another. Palmoplantar keratoderma is present in around 50% of cases. {ECO 0000269|PubMed 10594760, ECO 0000269|PubMed 10798362, ECO 0000269|PubMed 9843209}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000373362 ENSP00000362460; ENSG00000188910 # Ensembl ENST00000373366 ENSP00000362464; ENSG00000188910 # FUNCTION CXB3_HUMAN One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell. # GO_component GO:0005737 cytoplasm; IEA:Ensembl. # GO_component GO:0005921 gap junction; NAS:UniProtKB. # GO_component GO:0005922 connexin complex; IEA:InterPro. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0005243 gap junction channel activity; NAS:UniProtKB. # GO_process GO:0001701 in utero embryonic development; IEA:Ensembl. # GO_process GO:0001890 placenta development; IEA:Ensembl. # GO_process GO:0007154 cell communication; IEA:InterPro. # GO_process GO:0007605 sensory perception of sound; IEA:Ensembl. # GO_process GO:0043588 skin development; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0043234 protein complex # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0008150 biological_process # GOslim_process GO:0009790 embryo development # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0050877 neurological system process # Genevisible O75712 HS # HGNC HGNC:4285 GJB3 # InterPro IPR000500 Connexin # InterPro IPR002269 Connexin31 # InterPro IPR013092 Connexin_N # InterPro IPR017990 Connexin_CS # InterPro IPR019570 Connexin_CCC # KEGG_Disease H00604 [Nervous system disease; Nervous system disease] Deafness, autosomal dominant # KEGG_Disease H00605 [Nervous system disease; Nervous system disease] Deafness, autosomal recessive # KEGG_Disease H00710 [Skin and connective tissue disease] Erythrokeratodermia variabilis # MIM 133200 phenotype # MIM 603324 gene+phenotype # MIM 612644 phenotype # Organism CXB3_HUMAN Homo sapiens (Human) # Orphanet 139512 Neuropathy with hearing impairment # Orphanet 317 Erythrokeratodermia variabilis # Orphanet 90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA # Orphanet 90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB # PANTHER PTHR11984 PTHR11984 # PANTHER PTHR11984:SF65 PTHR11984:SF65 # PIR JE0274 JE0274 # PRINTS PR00206 CONNEXIN # PRINTS PR01140 CONNEXINB3 # PROSITE PS00407 CONNEXINS_1 # PROSITE PS00408 CONNEXINS_2 # Pfam PF00029 Connexin # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-190861 Gap junction assembly # RecName CXB3_HUMAN Gap junction beta-3 protein # RefSeq NP_001005752 NM_001005752.1 # RefSeq NP_076872 NM_024009.2 # SIMILARITY Belongs to the connexin family. Beta-type (group I) subfamily. {ECO 0000305}. # SMART SM00037 CNX # SMART SM01089 Connexin_CCC # SUBCELLULAR LOCATION CXB3_HUMAN Cell membrane; Multi-pass membrane protein. Cell junction, gap junction. # SUBUNIT A connexon is composed of a hexamer of connexins. Interacts with CNST (By similarity). {ECO 0000250}. # TCDB 1.A.24.1.10 the gap junction-forming connexin (connexin) family # UCSC uc001bxx human # WEB RESOURCE CXB3_HUMAN Name=Connexin-deafness homepage; URL="http //davinci.crg.es/deafness/"; # WEB RESOURCE CXB3_HUMAN Name=Hereditary hearing loss homepage; Note=Gene page; URL="http //hereditaryhearingloss.org/main.aspx?c=.HHH&n=86162"; # eggNOG ENOG410IE21 Eukaryota # eggNOG ENOG410Y9C2 LUCA BLAST swissprot:CXB3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CXB3_HUMAN BioCyc ZFISH:G66-32642-MONOMER http://biocyc.org/getid?id=ZFISH:G66-32642-MONOMER COXPRESdb 2707 http://coxpresdb.jp/data/gene/2707.shtml CleanEx HS_GJB3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_GJB3 DOI 10.1002/(SICI)1098-1004(200005)15:5<481::AID-HUMU15>3.0.CO http://dx.doi.org/10.1002/(SICI)1098-1004(200005)15:5<481::AID-HUMU15>3.0.CO DOI 10.1002/ajmg.a.32765 http://dx.doi.org/10.1002/ajmg.a.32765 DOI 10.1006/bbrc.1998.9070 http://dx.doi.org/10.1006/bbrc.1998.9070 DOI 10.1007/s004390051045 http://dx.doi.org/10.1007/s004390051045 DOI 10.1038/3840 http://dx.doi.org/10.1038/3840 DOI 10.1038/3845 http://dx.doi.org/10.1038/3845 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1038/sj.ejhg.5200407 http://dx.doi.org/10.1038/sj.ejhg.5200407 DOI 10.1046/j.1523-1747.1999.00792.x http://dx.doi.org/10.1046/j.1523-1747.1999.00792.x DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AF052692 http://www.ebi.ac.uk/ena/data/view/AF052692 EMBL AF099730 http://www.ebi.ac.uk/ena/data/view/AF099730 EMBL AJ004856 http://www.ebi.ac.uk/ena/data/view/AJ004856 EMBL AK312890 http://www.ebi.ac.uk/ena/data/view/AK312890 EMBL AL121988 http://www.ebi.ac.uk/ena/data/view/AL121988 EMBL BC012918 http://www.ebi.ac.uk/ena/data/view/BC012918 EMBL BC110640 http://www.ebi.ac.uk/ena/data/view/BC110640 EMBL CH471059 http://www.ebi.ac.uk/ena/data/view/CH471059 Ensembl ENST00000373362 http://www.ensembl.org/id/ENST00000373362 Ensembl ENST00000373366 http://www.ensembl.org/id/ENST00000373366 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005921 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005921 GO_component GO:0005922 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005922 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005243 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005243 GO_process GO:0001701 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001701 GO_process GO:0001890 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001890 GO_process GO:0007154 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007154 GO_process GO:0007605 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007605 GO_process GO:0043588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043588 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0009790 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009790 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GeneCards GJB3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=GJB3 GeneID 2707 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=2707 GeneTree ENSGT00860000133694 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00860000133694 H-InvDB HIX0000402 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0000402 HGNC HGNC:4285 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:4285 HOGENOM HOG000231127 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231127&db=HOGENOM6 HOVERGEN HBG009576 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG009576&db=HOVERGEN HPA CAB033241 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB033241 InParanoid O75712 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O75712 IntAct O75712 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O75712* InterPro IPR000500 http://www.ebi.ac.uk/interpro/entry/IPR000500 InterPro IPR002269 http://www.ebi.ac.uk/interpro/entry/IPR002269 InterPro IPR013092 http://www.ebi.ac.uk/interpro/entry/IPR013092 InterPro IPR017990 http://www.ebi.ac.uk/interpro/entry/IPR017990 InterPro IPR019570 http://www.ebi.ac.uk/interpro/entry/IPR019570 Jabion 2707 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=2707 KEGG_Disease H00604 http://www.genome.jp/dbget-bin/www_bget?H00604 KEGG_Disease H00605 http://www.genome.jp/dbget-bin/www_bget?H00605 KEGG_Disease H00710 http://www.genome.jp/dbget-bin/www_bget?H00710 KEGG_Gene hsa:2707 http://www.genome.jp/dbget-bin/www_bget?hsa:2707 KEGG_Orthology KO:K07622 http://www.genome.jp/dbget-bin/www_bget?KO:K07622 MIM 133200 http://www.ncbi.nlm.nih.gov/omim/133200 MIM 603324 http://www.ncbi.nlm.nih.gov/omim/603324 MIM 612644 http://www.ncbi.nlm.nih.gov/omim/612644 OMA HTLWHGF http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=HTLWHGF Orphanet 139512 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=139512 Orphanet 317 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=317 Orphanet 90635 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=90635 Orphanet 90636 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=90636 OrthoDB EOG091G0FKH http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0FKH PANTHER PTHR11984 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11984 PANTHER PTHR11984:SF65 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11984:SF65 PRINTS PR00206 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00206 PRINTS PR01140 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01140 PROSITE PS00407 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00407 PROSITE PS00408 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00408 PSORT swissprot:CXB3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CXB3_HUMAN PSORT-B swissprot:CXB3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CXB3_HUMAN PSORT2 swissprot:CXB3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CXB3_HUMAN Pfam PF00029 http://pfam.xfam.org/family/PF00029 PharmGKB PA28696 http://www.pharmgkb.org/do/serve?objId=PA28696&objCls=Gene Phobius swissprot:CXB3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CXB3_HUMAN PhylomeDB O75712 http://phylomedb.org/?seqid=O75712 ProteinModelPortal O75712 http://www.proteinmodelportal.org/query/uniprot/O75712 PubMed 10594760 http://www.ncbi.nlm.nih.gov/pubmed/10594760 PubMed 10757647 http://www.ncbi.nlm.nih.gov/pubmed/10757647 PubMed 10790215 http://www.ncbi.nlm.nih.gov/pubmed/10790215 PubMed 10798362 http://www.ncbi.nlm.nih.gov/pubmed/10798362 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 19283857 http://www.ncbi.nlm.nih.gov/pubmed/19283857 PubMed 9704026 http://www.ncbi.nlm.nih.gov/pubmed/9704026 PubMed 9843209 http://www.ncbi.nlm.nih.gov/pubmed/9843209 PubMed 9843210 http://www.ncbi.nlm.nih.gov/pubmed/9843210 Reactome R-HSA-190861 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-190861 RefSeq NP_001005752 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001005752 RefSeq NP_076872 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_076872 SMART SM00037 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00037 SMART SM01089 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM01089 SMR O75712 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=O75712 STRING 9606.ENSP00000362460 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000362460&targetmode=cogs TCDB 1.A.24.1.10 http://www.tcdb.org/search/result.php?tc=1.A.24.1.10 UCSC uc001bxx http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001bxx&org=rat UniGene Hs.522561 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.522561 UniProtKB CXB3_HUMAN http://www.uniprot.org/uniprot/CXB3_HUMAN UniProtKB-AC O75712 http://www.uniprot.org/uniprot/O75712 charge swissprot:CXB3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CXB3_HUMAN eggNOG ENOG410IE21 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IE21 eggNOG ENOG410Y9C2 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410Y9C2 epestfind swissprot:CXB3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CXB3_HUMAN garnier swissprot:CXB3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CXB3_HUMAN helixturnhelix swissprot:CXB3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CXB3_HUMAN hmoment swissprot:CXB3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CXB3_HUMAN iep swissprot:CXB3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CXB3_HUMAN inforesidue swissprot:CXB3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CXB3_HUMAN neXtProt NX_O75712 http://www.nextprot.org/db/entry/NX_O75712 octanol swissprot:CXB3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CXB3_HUMAN pepcoil swissprot:CXB3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CXB3_HUMAN pepdigest swissprot:CXB3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CXB3_HUMAN pepinfo swissprot:CXB3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CXB3_HUMAN pepnet swissprot:CXB3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CXB3_HUMAN pepstats swissprot:CXB3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CXB3_HUMAN pepwheel swissprot:CXB3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CXB3_HUMAN pepwindow swissprot:CXB3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CXB3_HUMAN sigcleave swissprot:CXB3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CXB3_HUMAN ## Database ID URL or Descriptions # AltName ABCD2_HUMAN Adrenoleukodystrophy-like 1 # AltName ABCD2_HUMAN Adrenoleukodystrophy-related protein # BioGrid 106727 5 # Ensembl ENST00000308666 ENSP00000310688; ENSG00000173208 # FUNCTION ABCD2_HUMAN Probable transporter. # GO_component GO:0005777 peroxisome; IDA:UniProtKB. # GO_component GO:0005778 peroxisomal membrane; TAS:Reactome. # GO_component GO:0005829 cytosol; TAS:Reactome. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0043231 intracellular membrane-bounded organelle; IDA:HPA. # GO_function GO:0005324 long-chain fatty acid transporter activity; TAS:Reactome. # GO_function GO:0005524 ATP binding; IEA:UniProtKB-KW. # GO_function GO:0042626 ATPase activity, coupled to transmembrane movement of substances; IEA:InterPro. # GO_function GO:0042803 protein homodimerization activity; IDA:UniProtKB. # GO_process GO:0000038 very long-chain fatty acid metabolic process; IDA:UniProtKB. # GO_process GO:0006635 fatty acid beta-oxidation; IGI:UniProtKB. # GO_process GO:0032000 positive regulation of fatty acid beta-oxidation; IDA:UniProtKB. # GO_process GO:0042760 very long-chain fatty acid catabolic process; IGI:UniProtKB. # GO_process GO:0055085 transmembrane transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005777 peroxisome # GOslim_component GO:0005829 cytosol # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006629 lipid metabolic process # GOslim_process GO:0008150 biological_process # GOslim_process GO:0009056 catabolic process # GOslim_process GO:0044281 small molecule metabolic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 3.40.50.300 -; 1. # Genevisible Q9UBJ2 HS # HGNC HGNC:66 ABCD2 # IntAct Q9UBJ2 2 # InterPro IPR003439 ABC_transporter-like # InterPro IPR003593 AAA+_ATPase # InterPro IPR011527 ABC1_TM_dom # InterPro IPR017871 ABC_transporter_CS # InterPro IPR027417 P-loop_NTPase # InterPro IPR031239 ABCD2 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02000 Transporters # KEGG_Pathway ko02010 ABC transporters # KEGG_Pathway ko04146 Peroxisome # MIM 601081 gene # Organism ABCD2_HUMAN Homo sapiens (Human) # PANTHER PTHR11384:SF24 PTHR11384:SF24 # PIR JC5712 JC5712 # PROSITE PS00211 ABC_TRANSPORTER_1 # PROSITE PS50893 ABC_TRANSPORTER_2 # PROSITE PS50929 ABC_TM1F # Pfam PF00005 ABC_tran # Pfam PF06472 ABC_membrane_2 # Proteomes UP000005640 Chromosome 12 # Reactome R-HSA-1369062 ABC transporters in lipid homeostasis # RecName ABCD2_HUMAN ATP-binding cassette sub-family D member 2 # RefSeq NP_005155 NM_005164.3 # RefSeq XP_011536329 XM_011538027.2 # SIMILARITY Belongs to the ABC transporter superfamily. ABCD family. Peroxisomal fatty acyl CoA transporter (TC 3.A.1.203) subfamily. {ECO 0000305}. # SIMILARITY Contains 1 ABC transmembrane type-1 domain. {ECO:0000255|PROSITE-ProRule PRU00441}. # SIMILARITY Contains 1 ABC transporter domain. {ECO:0000255|PROSITE-ProRule PRU00434}. # SMART SM00382 AAA # SUBCELLULAR LOCATION ABCD2_HUMAN Peroxisome membrane; Multi-pass membrane protein. # SUBUNIT ABCD2_HUMAN Can form heterodimers with ABCD1/ALD and ABCD3/PMP70. Dimerization is necessary to form an active transporter. Interacts with PEX19. {ECO 0000269|PubMed 10551832, ECO 0000269|PubMed 10704444, ECO 0000269|PubMed 10777694}. # SUPFAM SSF52540 SSF52540 # SUPFAM SSF90123 SSF90123 # TCDB 3.A.1.203 the atp-binding cassette (abc) superfamily # TISSUE SPECIFICITY ABCD2_HUMAN Predominantly expressed in brain and heart. # UCSC uc001rmb human # WEB RESOURCE ABCD2_HUMAN Name=ABCMdb; Note=Database for mutations in ABC proteins; URL="http //abcmutations.hegelab.org/proteinDetails?uniprot_id=Q9UBJ2"; # eggNOG COG4178 LUCA # eggNOG KOG0064 Eukaryota BLAST swissprot:ABCD2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ABCD2_HUMAN BioCyc ZFISH:ENSG00000173208-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000173208-MONOMER COXPRESdb 225 http://coxpresdb.jp/data/gene/225.shtml CleanEx HS_ABCD2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ABCD2 DOI 10.1006/bbrc.1997.7391 http://dx.doi.org/10.1006/bbrc.1997.7391 DOI 10.1006/bbrc.1999.0535 http://dx.doi.org/10.1006/bbrc.1999.0535 DOI 10.1006/bbrc.2000.2572 http://dx.doi.org/10.1006/bbrc.2000.2572 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.93.3.1265 http://dx.doi.org/10.1073/pnas.93.3.1265 DOI 10.1074/jbc.274.46.32738 http://dx.doi.org/10.1074/jbc.274.46.32738 DOI 10.1083/jcb.148.5.931 http://dx.doi.org/10.1083/jcb.148.5.931 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1164368 http://dx.doi.org/10.1126/science.1164368 EMBL AF119822 http://www.ebi.ac.uk/ena/data/view/AF119822 EMBL AF119823 http://www.ebi.ac.uk/ena/data/view/AF119823 EMBL AF119824 http://www.ebi.ac.uk/ena/data/view/AF119824 EMBL AF119825 http://www.ebi.ac.uk/ena/data/view/AF119825 EMBL AF119826 http://www.ebi.ac.uk/ena/data/view/AF119826 EMBL AF119827 http://www.ebi.ac.uk/ena/data/view/AF119827 EMBL AF119828 http://www.ebi.ac.uk/ena/data/view/AF119828 EMBL AF119829 http://www.ebi.ac.uk/ena/data/view/AF119829 EMBL AF119830 http://www.ebi.ac.uk/ena/data/view/AF119830 EMBL AF119831 http://www.ebi.ac.uk/ena/data/view/AF119831 EMBL AJ000327 http://www.ebi.ac.uk/ena/data/view/AJ000327 EMBL AK314254 http://www.ebi.ac.uk/ena/data/view/AK314254 EMBL BC104901 http://www.ebi.ac.uk/ena/data/view/BC104901 EMBL BC104903 http://www.ebi.ac.uk/ena/data/view/BC104903 EMBL CH471111 http://www.ebi.ac.uk/ena/data/view/CH471111 EMBL U28150 http://www.ebi.ac.uk/ena/data/view/U28150 Ensembl ENST00000308666 http://www.ensembl.org/id/ENST00000308666 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005777 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005777 GO_component GO:0005778 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005778 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0043231 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043231 GO_function GO:0005324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005324 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0042626 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042626 GO_function GO:0042803 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042803 GO_process GO:0000038 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000038 GO_process GO:0006635 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006635 GO_process GO:0032000 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032000 GO_process GO:0042760 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042760 GO_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005777 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005777 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006629 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006629 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0009056 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009056 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 3.40.50.300 http://www.cathdb.info/version/latest/superfamily/3.40.50.300 GeneCards ABCD2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ABCD2 GeneID 225 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=225 GeneTree ENSGT00390000003950 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000003950 HGNC HGNC:66 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:66 HOGENOM HOG000206081 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000206081&db=HOGENOM6 HOVERGEN HBG050438 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050438&db=HOVERGEN HPA HPA040336 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA040336 InParanoid Q9UBJ2 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9UBJ2 IntAct Q9UBJ2 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9UBJ2* InterPro IPR003439 http://www.ebi.ac.uk/interpro/entry/IPR003439 InterPro IPR003593 http://www.ebi.ac.uk/interpro/entry/IPR003593 InterPro IPR011527 http://www.ebi.ac.uk/interpro/entry/IPR011527 InterPro IPR017871 http://www.ebi.ac.uk/interpro/entry/IPR017871 InterPro IPR027417 http://www.ebi.ac.uk/interpro/entry/IPR027417 InterPro IPR031239 http://www.ebi.ac.uk/interpro/entry/IPR031239 Jabion 225 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=225 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Gene hsa:225 http://www.genome.jp/dbget-bin/www_bget?hsa:225 KEGG_Orthology KO:K05676 http://www.genome.jp/dbget-bin/www_bget?KO:K05676 KEGG_Pathway ko02010 http://www.genome.jp/kegg-bin/show_pathway?ko02010 KEGG_Pathway ko04146 http://www.genome.jp/kegg-bin/show_pathway?ko04146 MIM 601081 http://www.ncbi.nlm.nih.gov/omim/601081 OMA HAYRTYF http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=HAYRTYF OrthoDB EOG091G04M1 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G04M1 PANTHER PTHR11384:SF24 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11384:SF24 PROSITE PS00211 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00211 PROSITE PS50893 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50893 PROSITE PS50929 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50929 PSORT swissprot:ABCD2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ABCD2_HUMAN PSORT-B swissprot:ABCD2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ABCD2_HUMAN PSORT2 swissprot:ABCD2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ABCD2_HUMAN Pfam PF00005 http://pfam.xfam.org/family/PF00005 Pfam PF06472 http://pfam.xfam.org/family/PF06472 PharmGKB PA24401 http://www.pharmgkb.org/do/serve?objId=PA24401&objCls=Gene Phobius swissprot:ABCD2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ABCD2_HUMAN PhylomeDB Q9UBJ2 http://phylomedb.org/?seqid=Q9UBJ2 ProteinModelPortal Q9UBJ2 http://www.proteinmodelportal.org/query/uniprot/Q9UBJ2 PubMed 10329405 http://www.ncbi.nlm.nih.gov/pubmed/10329405 PubMed 10551832 http://www.ncbi.nlm.nih.gov/pubmed/10551832 PubMed 10704444 http://www.ncbi.nlm.nih.gov/pubmed/10704444 PubMed 10777694 http://www.ncbi.nlm.nih.gov/pubmed/10777694 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 18772397 http://www.ncbi.nlm.nih.gov/pubmed/18772397 PubMed 8577752 http://www.ncbi.nlm.nih.gov/pubmed/8577752 PubMed 9345306 http://www.ncbi.nlm.nih.gov/pubmed/9345306 Reactome R-HSA-1369062 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1369062 RefSeq NP_005155 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_005155 RefSeq XP_011536329 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011536329 SMART SM00382 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00382 SMR Q9UBJ2 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9UBJ2 STRING 9606.ENSP00000310688 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000310688&targetmode=cogs SUPFAM SSF52540 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52540 SUPFAM SSF90123 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF90123 TCDB 3.A.1.203 http://www.tcdb.org/search/result.php?tc=3.A.1.203 UCSC uc001rmb http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001rmb&org=rat UniGene Hs.117852 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.117852 UniProtKB ABCD2_HUMAN http://www.uniprot.org/uniprot/ABCD2_HUMAN UniProtKB-AC Q9UBJ2 http://www.uniprot.org/uniprot/Q9UBJ2 charge swissprot:ABCD2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ABCD2_HUMAN eggNOG COG4178 http://eggnogapi.embl.de/nog_data/html/tree/COG4178 eggNOG KOG0064 http://eggnogapi.embl.de/nog_data/html/tree/KOG0064 epestfind swissprot:ABCD2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ABCD2_HUMAN garnier swissprot:ABCD2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ABCD2_HUMAN helixturnhelix swissprot:ABCD2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ABCD2_HUMAN hmoment swissprot:ABCD2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ABCD2_HUMAN iep swissprot:ABCD2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ABCD2_HUMAN inforesidue swissprot:ABCD2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ABCD2_HUMAN neXtProt NX_Q9UBJ2 http://www.nextprot.org/db/entry/NX_Q9UBJ2 octanol swissprot:ABCD2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ABCD2_HUMAN pepcoil swissprot:ABCD2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ABCD2_HUMAN pepdigest swissprot:ABCD2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ABCD2_HUMAN pepinfo swissprot:ABCD2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ABCD2_HUMAN pepnet swissprot:ABCD2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ABCD2_HUMAN pepstats swissprot:ABCD2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ABCD2_HUMAN pepwheel swissprot:ABCD2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ABCD2_HUMAN pepwindow swissprot:ABCD2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ABCD2_HUMAN sigcleave swissprot:ABCD2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ABCD2_HUMAN ## Database ID URL or Descriptions # AltName GTR7_HUMAN Glucose transporter type 7 # CDD cd06174 MFS # Ensembl ENST00000400906 ENSP00000383698; ENSG00000197241 # FUNCTION GTR7_HUMAN High-affinity transporter for glucose and fructose Does not transport galactose, 2-deoxy-d-glucose and xylose. {ECO 0000269|PubMed 15033637}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0051119 sugar transmembrane transporter activity; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # HGNC HGNC:13445 SLC2A7 # InterPro IPR003663 Sugar/inositol_transpt # InterPro IPR005828 MFS_sugar_transport-like # InterPro IPR005829 Sugar_transporter_CS # InterPro IPR020846 MFS_dom # KEGG_Brite ko02000 Transporters # KEGG_Brite ko02001 Solute carrier family # MIM 610371 gene # Organism GTR7_HUMAN Homo sapiens (Human) # PDB 1YG7 Model; -; A=1-512 # PRINTS PR00171 SUGRTRNSPORT # PROSITE PS00216 SUGAR_TRANSPORT_1 # PROSITE PS00217 SUGAR_TRANSPORT_2 # PROSITE PS50850 MFS # Pfam PF00083 Sugar_tr # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-428776 Class II GLUTs # RecName GTR7_HUMAN Solute carrier family 2, facilitated glucose transporter member 7 # RefSeq NP_997303 NM_207420.2 # SIMILARITY Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION GTR7_HUMAN Membrane; Multi-pass membrane protein. # SUPFAM SSF103473 SSF103473 # TCDB 2.A.1.1.37 the major facilitator superfamily (mfs) # TIGRFAMs TIGR00879 SP # TISSUE SPECIFICITY Expressed in small intestine and colon. Weakly expressed in testis and prostate. {ECO:0000269|PubMed 15033637}. # UCSC uc009vmo human # eggNOG COG0477 LUCA # eggNOG KOG0569 Eukaryota BLAST swissprot:GTR7_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:GTR7_HUMAN BioCyc ZFISH:G66-31784-MONOMER http://biocyc.org/getid?id=ZFISH:G66-31784-MONOMER COXPRESdb 155184 http://coxpresdb.jp/data/gene/155184.shtml CleanEx HS_SLC2A7 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC2A7 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1152/ajpgi.00396.2003 http://dx.doi.org/10.1152/ajpgi.00396.2003 EMBL AL158048 http://www.ebi.ac.uk/ena/data/view/AL158048 EMBL AY571960 http://www.ebi.ac.uk/ena/data/view/AY571960 EMBL CH471130 http://www.ebi.ac.uk/ena/data/view/CH471130 Ensembl ENST00000400906 http://www.ensembl.org/id/ENST00000400906 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0051119 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051119 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GeneCards SLC2A7 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC2A7 GeneID 155184 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=155184 GeneTree ENSGT00760000119022 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119022 HGNC HGNC:13445 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:13445 HOGENOM HOG000202871 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000202871&db=HOGENOM6 HOVERGEN HBG014816 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG014816&db=HOVERGEN HPA HPA039931 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA039931 InParanoid Q6PXP3 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q6PXP3 InterPro IPR003663 http://www.ebi.ac.uk/interpro/entry/IPR003663 InterPro IPR005828 http://www.ebi.ac.uk/interpro/entry/IPR005828 InterPro IPR005829 http://www.ebi.ac.uk/interpro/entry/IPR005829 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 155184 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=155184 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:155184 http://www.genome.jp/dbget-bin/www_bget?hsa:155184 KEGG_Orthology KO:K12201 http://www.genome.jp/dbget-bin/www_bget?KO:K12201 MIM 610371 http://www.ncbi.nlm.nih.gov/omim/610371 OMA HSHIHED http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=HSHIHED OrthoDB EOG091G0A9K http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0A9K PDB 1YG7 http://www.ebi.ac.uk/pdbe-srv/view/entry/1YG7 PDBsum 1YG7 http://www.ebi.ac.uk/pdbsum/1YG7 PRINTS PR00171 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00171 PROSITE PS00216 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00216 PROSITE PS00217 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00217 PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PSORT swissprot:GTR7_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:GTR7_HUMAN PSORT-B swissprot:GTR7_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:GTR7_HUMAN PSORT2 swissprot:GTR7_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:GTR7_HUMAN Pfam PF00083 http://pfam.xfam.org/family/PF00083 PharmGKB PA37770 http://www.pharmgkb.org/do/serve?objId=PA37770&objCls=Gene Phobius swissprot:GTR7_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:GTR7_HUMAN PhylomeDB Q6PXP3 http://phylomedb.org/?seqid=Q6PXP3 ProteinModelPortal Q6PXP3 http://www.proteinmodelportal.org/query/uniprot/Q6PXP3 PubMed 15033637 http://www.ncbi.nlm.nih.gov/pubmed/15033637 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 Reactome R-HSA-428776 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-428776 RefSeq NP_997303 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_997303 STRING 9606.ENSP00000383698 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000383698&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.1.1.37 http://www.tcdb.org/search/result.php?tc=2.A.1.1.37 TIGRFAMs TIGR00879 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00879 UCSC uc009vmo http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc009vmo&org=rat UniGene Hs.531239 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.531239 UniProtKB GTR7_HUMAN http://www.uniprot.org/uniprot/GTR7_HUMAN UniProtKB-AC Q6PXP3 http://www.uniprot.org/uniprot/Q6PXP3 charge swissprot:GTR7_HUMAN http://rest.g-language.org/emboss/charge/swissprot:GTR7_HUMAN eggNOG COG0477 http://eggnogapi.embl.de/nog_data/html/tree/COG0477 eggNOG KOG0569 http://eggnogapi.embl.de/nog_data/html/tree/KOG0569 epestfind swissprot:GTR7_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:GTR7_HUMAN garnier swissprot:GTR7_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:GTR7_HUMAN helixturnhelix swissprot:GTR7_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:GTR7_HUMAN hmoment swissprot:GTR7_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:GTR7_HUMAN iep swissprot:GTR7_HUMAN http://rest.g-language.org/emboss/iep/swissprot:GTR7_HUMAN inforesidue swissprot:GTR7_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:GTR7_HUMAN neXtProt NX_Q6PXP3 http://www.nextprot.org/db/entry/NX_Q6PXP3 octanol swissprot:GTR7_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:GTR7_HUMAN pepcoil swissprot:GTR7_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:GTR7_HUMAN pepdigest swissprot:GTR7_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:GTR7_HUMAN pepinfo swissprot:GTR7_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:GTR7_HUMAN pepnet swissprot:GTR7_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:GTR7_HUMAN pepstats swissprot:GTR7_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:GTR7_HUMAN pepwheel swissprot:GTR7_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:GTR7_HUMAN pepwindow swissprot:GTR7_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:GTR7_HUMAN sigcleave swissprot:GTR7_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:GTR7_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS ABCAC_HUMAN Event=Alternative splicing; Named isoforms=2; Comment=Additional isoforms seem to exist.; Name=1; IsoId=Q86UK0-1; Sequence=Displayed; Name=2; IsoId=Q86UK0-2; Sequence=VSP_011283, VSP_011284; Note=No experimental confirmation available.; # AltName ABCAC_HUMAN ATP-binding cassette transporter 12 # CCDS CCDS33372 -. [Q86UK0-1] # CCDS CCDS33373 -. [Q86UK0-2] # DISEASE ABCAC_HUMAN Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM 601277] A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. {ECO 0000269|PubMed 12915478, ECO 0000269|PubMed 17508018, ECO 0000269|PubMed 18284401, ECO 0000269|PubMed 19262603, ECO 0000269|PubMed 22257947}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE ABCAC_HUMAN Ichthyosis, congenital, autosomal recessive 4B (ARCI4B) [MIM 242500] A rare, very severe form of congenital ichthyosis, in which the neonate is born with a thick covering of armor-like scales. The skin dries out to form hard diamond-shaped plaques separated by fissures, resembling 'armor plating'. The normal facial features are severely affected, with distortion of the lips (eclabion), eyelids (ectropion), ears, and nostrils. Affected babies are often born prematurely and rarely survive the perinatal period. Babies who survive into infancy and beyond develop skin changes resembling severe non-bullous congenital ichthyosiform erythroderma. {ECO 0000269|PubMed 15756637, ECO 0000269|PubMed 16675967, ECO 0000269|PubMed 16902423}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DOMAIN ABCAC_HUMAN Multifunctional polypeptide with two homologous halves, each containing a hydrophobic membrane-anchoring domain and an ATP binding cassette (ABC) domain. {ECO 0000250}. # Ensembl ENST00000272895 ENSP00000272895; ENSG00000144452. [Q86UK0-1] # Ensembl ENST00000389661 ENSP00000374312; ENSG00000144452. [Q86UK0-2] # ExpressionAtlas Q86UK0 baseline and differential # FUNCTION ABCAC_HUMAN Probable transporter involved in lipid homeostasis. # GO_component GO:0005737 cytoplasm; IDA:BHF-UCL. # GO_component GO:0005743 mitochondrial inner membrane; IEA:Ensembl. # GO_component GO:0005829 cytosol; IEA:Ensembl. # GO_component GO:0005886 plasma membrane; IDA:BHF-UCL. # GO_component GO:0016021 integral component of membrane; NAS:UniProtKB. # GO_component GO:0097209 epidermal lamellar body; IDA:BHF-UCL. # GO_function GO:0005102 receptor binding; IPI:BHF-UCL. # GO_function GO:0005319 lipid transporter activity; IDA:BHF-UCL. # GO_function GO:0005524 ATP binding; NAS:UniProtKB. # GO_function GO:0034040 lipid-transporting ATPase activity; IC:BHF-UCL. # GO_function GO:0034191 apolipoprotein A-I receptor binding; IPI:BHF-UCL. # GO_function GO:0042626 ATPase activity, coupled to transmembrane movement of substances; IBA:GO_Central. # GO_process GO:0006869 lipid transport; NAS:UniProtKB. # GO_process GO:0010875 positive regulation of cholesterol efflux; IDA:BHF-UCL. # GO_process GO:0019725 cellular homeostasis; NAS:UniProtKB. # GO_process GO:0031424 keratinization; IEA:Ensembl. # GO_process GO:0032940 secretion by cell; IMP:BHF-UCL. # GO_process GO:0033700 phospholipid efflux; IMP:BHF-UCL. # GO_process GO:0035627 ceramide transport; IEA:Ensembl. # GO_process GO:0043129 surfactant homeostasis; IEA:Ensembl. # GO_process GO:0045055 regulated exocytosis; IMP:BHF-UCL. # GO_process GO:0048286 lung alveolus development; IEA:Ensembl. # GO_process GO:0055085 transmembrane transport; TAS:Reactome. # GO_process GO:0055088 lipid homeostasis; IEA:Ensembl. # GO_process GO:0061436 establishment of skin barrier; IEA:Ensembl. # GO_process GO:0072659 protein localization to plasma membrane; IDA:BHF-UCL. # GO_process GO:2000010 positive regulation of protein localization to cell surface; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005829 cytosol # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0031410 cytoplasmic vesicle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0007009 plasma membrane organization # GOslim_process GO:0008150 biological_process # GOslim_process GO:0016192 vesicle-mediated transport # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0055085 transmembrane transport # Gene3D 3.40.50.300 -; 2. # Genevisible Q86UK0 HS # HGNC HGNC:14637 ABCA12 # INTERACTION ABCAC_HUMAN O95477 ABCA1; NbExp=4; IntAct=EBI-9541582, EBI-784112; # IntAct Q86UK0 2 # InterPro IPR003439 ABC_transporter-like # InterPro IPR003593 AAA+_ATPase # InterPro IPR017871 ABC_transporter_CS # InterPro IPR026082 ABC_A # InterPro IPR027417 P-loop_NTPase # InterPro IPR030371 ABCA12 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02000 Transporters # KEGG_Disease H00733 [Congenital disorder; Skin and connective tissue disease] Harlequin ichthyosis # KEGG_Disease H00734 [Congenital disorder; Skin and connective tissue disease] Lamellar ichthyosis (LI) and Non-bullous congenital ichthyosiform erythroderma (NBCIE) # KEGG_Pathway ko02010 ABC transporters # MIM 242500 phenotype # MIM 601277 phenotype # MIM 607800 gene # Organism ABCAC_HUMAN Homo sapiens (Human) # Orphanet 313 Lamellar ichthyosis # Orphanet 457 Harlequin ichthyosis # Orphanet 79394 Congenital non-bullous ichthyosiform erythroderma # PANTHER PTHR19229 PTHR19229; 3 # PANTHER PTHR19229:SF29 PTHR19229:SF29; 3 # PIR T12512 T12512 # PROSITE PS00211 ABC_TRANSPORTER_1 # PROSITE PS50893 ABC_TRANSPORTER_2; 2 # Pfam PF00005 ABC_tran; 2 # Proteomes UP000005640 Chromosome 2 # Reactome R-HSA-1369062 ABC transporters in lipid homeostasis # RecName ABCAC_HUMAN ATP-binding cassette sub-family A member 12 # RefSeq NP_056472 NM_015657.3. [Q86UK0-2] # RefSeq NP_775099 NM_173076.2. [Q86UK0-1] # SEQUENCE CAUTION Sequence=AAN40735.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the ABC transporter superfamily. ABCA family. {ECO 0000305}. # SIMILARITY Contains 2 ABC transporter domains. {ECO:0000255|PROSITE-ProRule PRU00434}. # SMART SM00382 AAA; 2 # SUBCELLULAR LOCATION ABCAC_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # SUPFAM SSF52540 SSF52540; 2 # TCDB 3.A.1.211.13 the atp-binding cassette (abc) superfamily # TISSUE SPECIFICITY Mainly expressed in the stomach, placenta, testis and fetal brain. {ECO:0000269|PubMed 12697999}. # UCSC uc002vev human. [Q86UK0-1] # WEB RESOURCE ABCAC_HUMAN Name=ABCMdb; Note=Database for mutations in ABC proteins; URL="http //abcmutations.hegelab.org/proteinDetails?uniprot_id=Q86UK0"; # eggNOG COG1131 LUCA # eggNOG KOG0059 Eukaryota BLAST swissprot:ABCAC_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ABCAC_HUMAN COXPRESdb 26154 http://coxpresdb.jp/data/gene/26154.shtml CleanEx HS_ABCA12 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ABCA12 DOI 10.1002/humu.21326 http://dx.doi.org/10.1002/humu.21326 DOI 10.1038/jid.2009.23 http://dx.doi.org/10.1038/jid.2009.23 DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1038/sj.jid.5700295 http://dx.doi.org/10.1038/sj.jid.5700295 DOI 10.1038/sj.jid.5700455 http://dx.doi.org/10.1038/sj.jid.5700455 DOI 10.1038/sj.jid.5700885 http://dx.doi.org/10.1038/sj.jid.5700885 DOI 10.1086/429844 http://dx.doi.org/10.1086/429844 DOI 10.1093/hmg/ddg235 http://dx.doi.org/10.1093/hmg/ddg235 DOI 10.1111/j.1365-2133.2008.08439.x http://dx.doi.org/10.1111/j.1365-2133.2008.08439.x DOI 10.1126/science.1164368 http://dx.doi.org/10.1126/science.1164368 DOI 10.1159/000069811 http://dx.doi.org/10.1159/000069811 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 DOI 10.1684/ejd.2011.1638 http://dx.doi.org/10.1684/ejd.2011.1638 EMBL AC072062 http://www.ebi.ac.uk/ena/data/view/AC072062 EMBL AC114780 http://www.ebi.ac.uk/ena/data/view/AC114780 EMBL AF418105 http://www.ebi.ac.uk/ena/data/view/AF418105 EMBL AL080207 http://www.ebi.ac.uk/ena/data/view/AL080207 EMBL AY033486 http://www.ebi.ac.uk/ena/data/view/AY033486 EMBL AY219711 http://www.ebi.ac.uk/ena/data/view/AY219711 Ensembl ENST00000272895 http://www.ensembl.org/id/ENST00000272895 Ensembl ENST00000389661 http://www.ensembl.org/id/ENST00000389661 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0097209 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097209 GO_function GO:0005102 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005102 GO_function GO:0005319 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005319 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0034040 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034040 GO_function GO:0034191 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034191 GO_function GO:0042626 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042626 GO_process GO:0006869 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006869 GO_process GO:0010875 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010875 GO_process GO:0019725 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019725 GO_process GO:0031424 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031424 GO_process GO:0032940 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032940 GO_process GO:0033700 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033700 GO_process GO:0035627 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035627 GO_process GO:0043129 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043129 GO_process GO:0045055 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045055 GO_process GO:0048286 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048286 GO_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GO_process GO:0055088 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055088 GO_process GO:0061436 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061436 GO_process GO:0072659 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0072659 GO_process GO:2000010 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000010 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0031410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007009 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007009 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0016192 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016192 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 3.40.50.300 http://www.cathdb.info/version/latest/superfamily/3.40.50.300 GeneCards ABCA12 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ABCA12 GeneID 26154 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=26154 GeneTree ENSGT00760000118965 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118965 HGNC HGNC:14637 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:14637 HOGENOM HOG000168538 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000168538&db=HOGENOM6 HOVERGEN HBG080807 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG080807&db=HOVERGEN InParanoid Q86UK0 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q86UK0 IntAct Q86UK0 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q86UK0* InterPro IPR003439 http://www.ebi.ac.uk/interpro/entry/IPR003439 InterPro IPR003593 http://www.ebi.ac.uk/interpro/entry/IPR003593 InterPro IPR017871 http://www.ebi.ac.uk/interpro/entry/IPR017871 InterPro IPR026082 http://www.ebi.ac.uk/interpro/entry/IPR026082 InterPro IPR027417 http://www.ebi.ac.uk/interpro/entry/IPR027417 InterPro IPR030371 http://www.ebi.ac.uk/interpro/entry/IPR030371 Jabion 26154 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=26154 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Disease H00733 http://www.genome.jp/dbget-bin/www_bget?H00733 KEGG_Disease H00734 http://www.genome.jp/dbget-bin/www_bget?H00734 KEGG_Gene hsa:26154 http://www.genome.jp/dbget-bin/www_bget?hsa:26154 KEGG_Orthology KO:K05646 http://www.genome.jp/dbget-bin/www_bget?KO:K05646 KEGG_Pathway ko02010 http://www.genome.jp/kegg-bin/show_pathway?ko02010 MIM 242500 http://www.ncbi.nlm.nih.gov/omim/242500 MIM 601277 http://www.ncbi.nlm.nih.gov/omim/601277 MIM 607800 http://www.ncbi.nlm.nih.gov/omim/607800 OMA NYSPPHR http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=NYSPPHR Orphanet 313 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=313 Orphanet 457 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=457 Orphanet 79394 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=79394 OrthoDB EOG091G007E http://cegg.unige.ch/orthodb/results?searchtext=EOG091G007E PANTHER PTHR19229 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR19229 PANTHER PTHR19229:SF29 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR19229:SF29 PROSITE PS00211 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00211 PROSITE PS50893 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50893 PSORT swissprot:ABCAC_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ABCAC_HUMAN PSORT-B swissprot:ABCAC_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ABCAC_HUMAN PSORT2 swissprot:ABCAC_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ABCAC_HUMAN Pfam PF00005 http://pfam.xfam.org/family/PF00005 PharmGKB PA29604 http://www.pharmgkb.org/do/serve?objId=PA29604&objCls=Gene Phobius swissprot:ABCAC_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ABCAC_HUMAN PhylomeDB Q86UK0 http://phylomedb.org/?seqid=Q86UK0 ProteinModelPortal Q86UK0 http://www.proteinmodelportal.org/query/uniprot/Q86UK0 PubMed 12697999 http://www.ncbi.nlm.nih.gov/pubmed/12697999 PubMed 12915478 http://www.ncbi.nlm.nih.gov/pubmed/12915478 PubMed 15756637 http://www.ncbi.nlm.nih.gov/pubmed/15756637 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 PubMed 16675967 http://www.ncbi.nlm.nih.gov/pubmed/16675967 PubMed 16902423 http://www.ncbi.nlm.nih.gov/pubmed/16902423 PubMed 17508018 http://www.ncbi.nlm.nih.gov/pubmed/17508018 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 PubMed 18284401 http://www.ncbi.nlm.nih.gov/pubmed/18284401 PubMed 18772397 http://www.ncbi.nlm.nih.gov/pubmed/18772397 PubMed 19262603 http://www.ncbi.nlm.nih.gov/pubmed/19262603 PubMed 20672373 http://www.ncbi.nlm.nih.gov/pubmed/20672373 PubMed 22257947 http://www.ncbi.nlm.nih.gov/pubmed/22257947 Reactome R-HSA-1369062 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1369062 RefSeq NP_056472 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_056472 RefSeq NP_775099 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_775099 SMART SM00382 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00382 SMR Q86UK0 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q86UK0 STRING 9606.ENSP00000272895 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000272895&targetmode=cogs SUPFAM SSF52540 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52540 TCDB 3.A.1.211.13 http://www.tcdb.org/search/result.php?tc=3.A.1.211.13 UCSC uc002vev http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002vev&org=rat UniGene Hs.134585 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.134585 UniProtKB ABCAC_HUMAN http://www.uniprot.org/uniprot/ABCAC_HUMAN UniProtKB-AC Q86UK0 http://www.uniprot.org/uniprot/Q86UK0 charge swissprot:ABCAC_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ABCAC_HUMAN eggNOG COG1131 http://eggnogapi.embl.de/nog_data/html/tree/COG1131 eggNOG KOG0059 http://eggnogapi.embl.de/nog_data/html/tree/KOG0059 epestfind swissprot:ABCAC_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ABCAC_HUMAN garnier swissprot:ABCAC_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ABCAC_HUMAN helixturnhelix swissprot:ABCAC_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ABCAC_HUMAN hmoment swissprot:ABCAC_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ABCAC_HUMAN iep swissprot:ABCAC_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ABCAC_HUMAN inforesidue swissprot:ABCAC_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ABCAC_HUMAN neXtProt NX_Q86UK0 http://www.nextprot.org/db/entry/NX_Q86UK0 octanol swissprot:ABCAC_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ABCAC_HUMAN pepcoil swissprot:ABCAC_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ABCAC_HUMAN pepdigest swissprot:ABCAC_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ABCAC_HUMAN pepinfo swissprot:ABCAC_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ABCAC_HUMAN pepnet swissprot:ABCAC_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ABCAC_HUMAN pepstats swissprot:ABCAC_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ABCAC_HUMAN pepwheel swissprot:ABCAC_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ABCAC_HUMAN pepwindow swissprot:ABCAC_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ABCAC_HUMAN sigcleave swissprot:ABCAC_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ABCAC_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS AT131_HUMAN Event=Alternative splicing; Named isoforms=3; Comment=Experimental confirmation may be lacking for some isoforms.; Name=A; IsoId=Q9HD20-1; Sequence=Displayed; Name=B; IsoId=Q9HD20-2; Sequence=VSP_000434, VSP_000435; Name=C; IsoId=Q9HD20-3; Sequence=VSP_000433; # BioGrid 121393 10 # CATALYTIC ACTIVITY AT131_HUMAN ATP + H(2)O = ADP + phosphate. # CCDS CCDS32970 -. [Q9HD20-1] # ChiTaRS ATP13A1 human # Ensembl ENST00000291503 ENSP00000291503; ENSG00000105726. [Q9HD20-2] # Ensembl ENST00000357324 ENSP00000349877; ENSG00000105726. [Q9HD20-1] # ExpressionAtlas Q9HD20 baseline and differential # FUNCTION AT131_HUMAN Mediates manganese transport into the endoplasmic reticulum. The ATPase activity is required for cellular manganese homeostasis. {ECO 0000269|PubMed 24392018}. # GO_component GO:0005789 endoplasmic reticulum membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0043231 intracellular membrane-bounded organelle; IBA:GO_Central. # GO_function GO:0005524 ATP binding; IEA:UniProtKB-KW. # GO_function GO:0015410 manganese-transporting ATPase activity; TAS:Reactome. # GO_function GO:0019829 cation-transporting ATPase activity; IBA:GO_Central. # GO_function GO:0046872 metal ion binding; IEA:UniProtKB-KW. # GO_process GO:0006874 cellular calcium ion homeostasis; IBA:GO_Central. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0043226 organelle # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 2.70.150.10 -; 1. # Gene3D 3.40.1110.10 -; 1. # Gene3D 3.40.50.1000 -; 2. # Genevisible Q9HD20 HS # HGNC HGNC:24215 ATP13A1 # IntAct Q9HD20 8 # InterPro IPR001757 P_typ_ATPase # InterPro IPR006544 P-type_TPase_V # InterPro IPR008250 ATPase_P-typ_transduc_dom_A # InterPro IPR018303 ATPase_P-typ_P_site # InterPro IPR023214 HAD-like_dom # InterPro IPR023299 ATPase_P-typ_cyto_domN # KEGG_Brite ko01000 Enzymes # MISCELLANEOUS AT131_HUMAN Depletion of ATP13A1 with siRNAs leads to induction of the unfolded protein response (UPR) and increased activity of glucosylceramide synthase (GlcCer). # Organism AT131_HUMAN Homo sapiens (Human) # PANTHER PTHR24093:SF82 PTHR24093:SF82; 3 # PROSITE PS00154 ATPASE_E1_E2 # Pfam PF00122 E1-E2_ATPase # Proteomes UP000005640 Chromosome 19 # Reactome R-HSA-936837 Ion transport by P-type ATPases # RecName AT131_HUMAN Manganese-transporting ATPase 13A1 # RefSeq NP_065143 NM_020410.2. [Q9HD20-1] # SEQUENCE CAUTION Sequence=AAH69211.1; Type=Frameshift; Positions=846; Evidence={ECO 0000305}; # SIMILARITY Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type V subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION AT131_HUMAN Endoplasmic reticulum membrane {ECO 0000269|PubMed 24392018}; Multi-pass membrane protein {ECO 0000269|PubMed 24392018}. # SUPFAM SSF56784 SSF56784; 3 # SUPFAM SSF81660 SSF81660 # TCDB 3.A.3.10.19 the p-type atpase (p-atpase) superfamily # TIGRFAMs TIGR01494 ATPase_P-type; 2 # TIGRFAMs TIGR01657 P-ATPase-V # UCSC uc002nng human. [Q9HD20-1] # eggNOG COG0474 LUCA # eggNOG KOG0209 Eukaryota BLAST swissprot:AT131_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:AT131_HUMAN BioCyc ZFISH:ENSG00000105726-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000105726-MONOMER COXPRESdb 57130 http://coxpresdb.jp/data/gene/57130.shtml CleanEx HS_ATP13A1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ATP13A1 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/pr0502065 http://dx.doi.org/10.1021/pr0502065 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1073/pnas.1210303109 http://dx.doi.org/10.1073/pnas.1210303109 DOI 10.1074/mcp.M111.015131 http://dx.doi.org/10.1074/mcp.M111.015131 DOI 10.1093/dnares/8.2.85 http://dx.doi.org/10.1093/dnares/8.2.85 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DOI 10.1371/journal.pone.0085519 http://dx.doi.org/10.1371/journal.pone.0085519 EC_number EC:3.6.3.- http://www.genome.jp/dbget-bin/www_bget?EC:3.6.3.- EMBL AB058728 http://www.ebi.ac.uk/ena/data/view/AB058728 EMBL AF288687 http://www.ebi.ac.uk/ena/data/view/AF288687 EMBL AK026044 http://www.ebi.ac.uk/ena/data/view/AK026044 EMBL AK056420 http://www.ebi.ac.uk/ena/data/view/AK056420 EMBL AK095287 http://www.ebi.ac.uk/ena/data/view/AK095287 EMBL AK172778 http://www.ebi.ac.uk/ena/data/view/AK172778 EMBL BC009302 http://www.ebi.ac.uk/ena/data/view/BC009302 EMBL BC069211 http://www.ebi.ac.uk/ena/data/view/BC069211 EMBL CH471106 http://www.ebi.ac.uk/ena/data/view/CH471106 EMBL CH471106 http://www.ebi.ac.uk/ena/data/view/CH471106 ENZYME 3.6.3.- http://enzyme.expasy.org/EC/3.6.3.- Ensembl ENST00000291503 http://www.ensembl.org/id/ENST00000291503 Ensembl ENST00000357324 http://www.ensembl.org/id/ENST00000357324 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005789 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005789 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0043231 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043231 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0015410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015410 GO_function GO:0019829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019829 GO_function GO:0046872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046872 GO_process GO:0006874 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006874 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 2.70.150.10 http://www.cathdb.info/version/latest/superfamily/2.70.150.10 Gene3D 3.40.1110.10 http://www.cathdb.info/version/latest/superfamily/3.40.1110.10 Gene3D 3.40.50.1000 http://www.cathdb.info/version/latest/superfamily/3.40.50.1000 GeneCards ATP13A1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ATP13A1 GeneID 57130 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=57130 GeneTree ENSGT00550000075064 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000075064 HGNC HGNC:24215 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:24215 HOGENOM HOG000199432 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000199432&db=HOGENOM6 HOVERGEN HBG050602 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050602&db=HOVERGEN HPA HPA031798 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA031798 HPA HPA049717 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA049717 InParanoid Q9HD20 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9HD20 IntAct Q9HD20 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9HD20* IntEnz 3.6.3 http://www.ebi.ac.uk/intenz/query?cmd=Search&q=3.6.3 InterPro IPR001757 http://www.ebi.ac.uk/interpro/entry/IPR001757 InterPro IPR006544 http://www.ebi.ac.uk/interpro/entry/IPR006544 InterPro IPR008250 http://www.ebi.ac.uk/interpro/entry/IPR008250 InterPro IPR018303 http://www.ebi.ac.uk/interpro/entry/IPR018303 InterPro IPR023214 http://www.ebi.ac.uk/interpro/entry/IPR023214 InterPro IPR023299 http://www.ebi.ac.uk/interpro/entry/IPR023299 Jabion 57130 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=57130 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Gene hsa:57130 http://www.genome.jp/dbget-bin/www_bget?hsa:57130 KEGG_Orthology KO:K14950 http://www.genome.jp/dbget-bin/www_bget?KO:K14950 OMA YLYSEAQ http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=YLYSEAQ OrthoDB EOG091G00UD http://cegg.unige.ch/orthodb/results?searchtext=EOG091G00UD PANTHER PTHR24093:SF82 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24093:SF82 PROSITE PS00154 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00154 PSORT swissprot:AT131_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:AT131_HUMAN PSORT-B swissprot:AT131_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:AT131_HUMAN PSORT2 swissprot:AT131_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:AT131_HUMAN Pfam PF00122 http://pfam.xfam.org/family/PF00122 PharmGKB PA134988892 http://www.pharmgkb.org/do/serve?objId=PA134988892&objCls=Gene Phobius swissprot:AT131_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:AT131_HUMAN PhylomeDB Q9HD20 http://phylomedb.org/?seqid=Q9HD20 ProteinModelPortal Q9HD20 http://www.proteinmodelportal.org/query/uniprot/Q9HD20 PubMed 11347906 http://www.ncbi.nlm.nih.gov/pubmed/11347906 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16335952 http://www.ncbi.nlm.nih.gov/pubmed/16335952 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 22223895 http://www.ncbi.nlm.nih.gov/pubmed/22223895 PubMed 22814378 http://www.ncbi.nlm.nih.gov/pubmed/22814378 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 24392018 http://www.ncbi.nlm.nih.gov/pubmed/24392018 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 Reactome R-HSA-936837 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-936837 RefSeq NP_065143 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_065143 STRING 9606.ENSP00000349877 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000349877&targetmode=cogs SUPFAM SSF56784 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF56784 SUPFAM SSF81660 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81660 TCDB 3.A.3.10.19 http://www.tcdb.org/search/result.php?tc=3.A.3.10.19 TIGRFAMs TIGR01494 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01494 TIGRFAMs TIGR01657 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01657 UCSC uc002nng http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002nng&org=rat UniGene Hs.501794 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.501794 UniProtKB AT131_HUMAN http://www.uniprot.org/uniprot/AT131_HUMAN UniProtKB-AC Q9HD20 http://www.uniprot.org/uniprot/Q9HD20 charge swissprot:AT131_HUMAN http://rest.g-language.org/emboss/charge/swissprot:AT131_HUMAN eggNOG COG0474 http://eggnogapi.embl.de/nog_data/html/tree/COG0474 eggNOG KOG0209 http://eggnogapi.embl.de/nog_data/html/tree/KOG0209 epestfind swissprot:AT131_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:AT131_HUMAN garnier swissprot:AT131_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:AT131_HUMAN helixturnhelix swissprot:AT131_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:AT131_HUMAN hmoment swissprot:AT131_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:AT131_HUMAN iep swissprot:AT131_HUMAN http://rest.g-language.org/emboss/iep/swissprot:AT131_HUMAN inforesidue swissprot:AT131_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:AT131_HUMAN neXtProt NX_Q9HD20 http://www.nextprot.org/db/entry/NX_Q9HD20 octanol swissprot:AT131_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:AT131_HUMAN pepcoil swissprot:AT131_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:AT131_HUMAN pepdigest swissprot:AT131_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:AT131_HUMAN pepinfo swissprot:AT131_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:AT131_HUMAN pepnet swissprot:AT131_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:AT131_HUMAN pepstats swissprot:AT131_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:AT131_HUMAN pepwheel swissprot:AT131_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:AT131_HUMAN pepwindow swissprot:AT131_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:AT131_HUMAN sigcleave swissprot:AT131_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:AT131_HUMAN ## Database ID URL or Descriptions # AltName VATD_HUMAN V-ATPase 28 kDa accessory protein # AltName VATD_HUMAN Vacuolar proton pump subunit D # BioGrid 119513 51 # ChiTaRS ATP6V1D human # Ensembl ENST00000216442 ENSP00000216442; ENSG00000100554 # Ensembl ENST00000554087 ENSP00000451167; ENSG00000100554 # ExpressionAtlas Q9Y5K8 baseline and differential # FUNCTION VATD_HUMAN Subunit of the peripheral V1 complex of vacuolar ATPase. Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells, thus providing most of the energy required for transport processes in the vacuolar system (By similarity). May play a role in cilium biogenesis through regulation of the transport and the localization of proteins to the cilium. {ECO 0000250, ECO 0000269|PubMed 21844891}. # GO_component GO:0005765 lysosomal membrane; IDA:UniProtKB. # GO_component GO:0005829 cytosol; TAS:Reactome. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0033176 proton-transporting V-type ATPase complex; IDA:UniProtKB. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0042626 ATPase activity, coupled to transmembrane movement of substances; IEA:InterPro. # GO_process GO:0008286 insulin receptor signaling pathway; TAS:Reactome. # GO_process GO:0015992 proton transport; IEA:UniProtKB-KW. # GO_process GO:0016241 regulation of macroautophagy; NAS:ParkinsonsUK-UCL. # GO_process GO:0033572 transferrin transport; TAS:Reactome. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0042384 cilium assembly; IMP:UniProtKB. # GO_process GO:0061512 protein localization to cilium; IMP:UniProtKB. # GO_process GO:0090383 phagosome acidification; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005829 cytosol # GOslim_component GO:0043226 organelle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Genevisible Q9Y5K8 HS # HGNC HGNC:13527 ATP6V1D # INTERACTION VATD_HUMAN Q8N1B4 VPS52; NbExp=5; IntAct=EBI-2684998, EBI-2799833; # IntAct Q9Y5K8 15 # InterPro IPR002699 V_ATPase_D # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Brite ko01000 Enzymes # KEGG_Pathway ko00190 Oxidative phosphorylation # KEGG_Pathway ko04145 Phagosome # KEGG_Pathway ko04721 Synaptic vesicle cycle # KEGG_Pathway ko04966 Collecting duct acid secretion # KEGG_Pathway ko05110 Vibrio cholerae infection # KEGG_Pathway ko05120 Epithelial cell signaling in Helicobacter pylori infection # KEGG_Pathway ko05323 Rheumatoid arthritis # MIM 609398 gene # Organism VATD_HUMAN Homo sapiens (Human) # PANTHER PTHR11671 PTHR11671 # Pfam PF01813 ATP-synt_D # Proteomes UP000005640 Chromosome 14 # Reactome R-HSA-1222556 ROS, RNS production in response to bacteria # Reactome R-HSA-6798695 Neutrophil degranulation # Reactome R-HSA-77387 Insulin receptor recycling # Reactome R-HSA-917977 Transferrin endocytosis and recycling # Reactome R-HSA-983712 Ion channel transport # RecName VATD_HUMAN V-type proton ATPase subunit D # RefSeq NP_057078 NM_015994.3 # SIMILARITY Belongs to the V-ATPase D subunit family. {ECO 0000305}. # SUBCELLULAR LOCATION VATD_HUMAN Membrane {ECO 0000305|PubMed 21844891}; Peripheral membrane protein {ECO 0000305|PubMed 21844891}; Cytoplasmic side {ECO 0000305|PubMed 21844891}. Note=Localizes to centrosome and the base of the cilium. # SUBUNIT V-ATPase is a heteromultimeric enzyme composed of a peripheral catalytic V1 complex (components A to H) attached to an integral membrane V0 proton pore complex (components: a, c, c', c'' and d). Interacts with SNX10; may play a role in ciliogenesis. {ECO 0000269|PubMed:21844891}. # TIGRFAMs TIGR00309 V_ATPase_subD # UCSC uc001xjf human # eggNOG COG1394 LUCA # eggNOG KOG1647 Eukaryota BLAST swissprot:VATD_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:VATD_HUMAN BioCyc MetaCyc:HS02107-MONOMER http://biocyc.org/getid?id=MetaCyc:HS02107-MONOMER BioCyc ZFISH:HS02107-MONOMER http://biocyc.org/getid?id=ZFISH:HS02107-MONOMER COG COG1394 http://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=COG1394 COXPRESdb 51382 http://coxpresdb.jp/data/gene/51382.shtml CleanEx HS_ATP6V1D http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ATP6V1D DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1038/cr.2011.134 http://dx.doi.org/10.1038/cr.2011.134 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.160270997 http://dx.doi.org/10.1073/pnas.160270997 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AF100741 http://www.ebi.ac.uk/ena/data/view/AF100741 EMBL AF104629 http://www.ebi.ac.uk/ena/data/view/AF104629 EMBL AF145316 http://www.ebi.ac.uk/ena/data/view/AF145316 EMBL AK315784 http://www.ebi.ac.uk/ena/data/view/AK315784 EMBL BC001411 http://www.ebi.ac.uk/ena/data/view/BC001411 EMBL CH471061 http://www.ebi.ac.uk/ena/data/view/CH471061 Ensembl ENST00000216442 http://www.ensembl.org/id/ENST00000216442 Ensembl ENST00000554087 http://www.ensembl.org/id/ENST00000554087 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005765 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005765 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0033176 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033176 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0042626 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042626 GO_process GO:0008286 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008286 GO_process GO:0015992 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015992 GO_process GO:0016241 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016241 GO_process GO:0033572 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033572 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0042384 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042384 GO_process GO:0061512 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061512 GO_process GO:0090383 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090383 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards ATP6V1D http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ATP6V1D GeneID 51382 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=51382 GeneTree ENSGT00390000010770 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000010770 HGNC HGNC:13527 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:13527 HOGENOM HOG000230791 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000230791&db=HOGENOM6 HOVERGEN HBG000483 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG000483&db=HOVERGEN HPA HPA031515 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA031515 HPA HPA057316 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA057316 InParanoid Q9Y5K8 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9Y5K8 IntAct Q9Y5K8 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9Y5K8* InterPro IPR002699 http://www.ebi.ac.uk/interpro/entry/IPR002699 Jabion 51382 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=51382 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00002 http://www.genome.jp/dbget-bin/www_bget?ko00002 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Gene hsa:51382 http://www.genome.jp/dbget-bin/www_bget?hsa:51382 KEGG_Orthology KO:K02149 http://www.genome.jp/dbget-bin/www_bget?KO:K02149 KEGG_Pathway ko00190 http://www.genome.jp/kegg-bin/show_pathway?ko00190 KEGG_Pathway ko04145 http://www.genome.jp/kegg-bin/show_pathway?ko04145 KEGG_Pathway ko04721 http://www.genome.jp/kegg-bin/show_pathway?ko04721 KEGG_Pathway ko04966 http://www.genome.jp/kegg-bin/show_pathway?ko04966 KEGG_Pathway ko05110 http://www.genome.jp/kegg-bin/show_pathway?ko05110 KEGG_Pathway ko05120 http://www.genome.jp/kegg-bin/show_pathway?ko05120 KEGG_Pathway ko05323 http://www.genome.jp/kegg-bin/show_pathway?ko05323 MIM 609398 http://www.ncbi.nlm.nih.gov/omim/609398 OMA REEIFRM http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=REEIFRM OrthoDB EOG091G0A10 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0A10 PANTHER PTHR11671 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11671 PSORT swissprot:VATD_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:VATD_HUMAN PSORT-B swissprot:VATD_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:VATD_HUMAN PSORT2 swissprot:VATD_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:VATD_HUMAN Pfam PF01813 http://pfam.xfam.org/family/PF01813 PharmGKB PA25157 http://www.pharmgkb.org/do/serve?objId=PA25157&objCls=Gene Phobius swissprot:VATD_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:VATD_HUMAN PhylomeDB Q9Y5K8 http://phylomedb.org/?seqid=Q9Y5K8 ProteinModelPortal Q9Y5K8 http://www.proteinmodelportal.org/query/uniprot/Q9Y5K8 PubMed 10931946 http://www.ncbi.nlm.nih.gov/pubmed/10931946 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 21844891 http://www.ncbi.nlm.nih.gov/pubmed/21844891 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 Reactome R-HSA-1222556 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1222556 Reactome R-HSA-6798695 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6798695 Reactome R-HSA-77387 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-77387 Reactome R-HSA-917977 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-917977 Reactome R-HSA-983712 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-983712 RefSeq NP_057078 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_057078 SMR Q9Y5K8 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9Y5K8 STRING 9606.ENSP00000216442 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000216442&targetmode=cogs STRING COG1394 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=COG1394&targetmode=cogs TIGRFAMs TIGR00309 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00309 UCSC uc001xjf http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001xjf&org=rat UniGene Hs.272630 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.272630 UniProtKB VATD_HUMAN http://www.uniprot.org/uniprot/VATD_HUMAN UniProtKB-AC Q9Y5K8 http://www.uniprot.org/uniprot/Q9Y5K8 charge swissprot:VATD_HUMAN http://rest.g-language.org/emboss/charge/swissprot:VATD_HUMAN eggNOG COG1394 http://eggnogapi.embl.de/nog_data/html/tree/COG1394 eggNOG KOG1647 http://eggnogapi.embl.de/nog_data/html/tree/KOG1647 epestfind swissprot:VATD_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:VATD_HUMAN garnier swissprot:VATD_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:VATD_HUMAN helixturnhelix swissprot:VATD_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:VATD_HUMAN hmoment swissprot:VATD_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:VATD_HUMAN iep swissprot:VATD_HUMAN http://rest.g-language.org/emboss/iep/swissprot:VATD_HUMAN inforesidue swissprot:VATD_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:VATD_HUMAN neXtProt NX_Q9Y5K8 http://www.nextprot.org/db/entry/NX_Q9Y5K8 octanol swissprot:VATD_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:VATD_HUMAN pepcoil swissprot:VATD_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:VATD_HUMAN pepdigest swissprot:VATD_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:VATD_HUMAN pepinfo swissprot:VATD_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:VATD_HUMAN pepnet swissprot:VATD_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:VATD_HUMAN pepstats swissprot:VATD_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:VATD_HUMAN pepwheel swissprot:VATD_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:VATD_HUMAN pepwindow swissprot:VATD_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:VATD_HUMAN sigcleave swissprot:VATD_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:VATD_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS NOX1_HUMAN Event=Alternative splicing; Named isoforms=3; Name=NOH-1L; IsoId=Q9Y5S8-1; Sequence=Displayed; Name=NOH-1S; IsoId=Q9Y5S8-2; Sequence=VSP_001577, VSP_001578; Name=NOH-1LV; IsoId=Q9Y5S8-3; Sequence=VSP_001579; # AltName NOX1_HUMAN Mitogenic oxidase 1 # AltName NOX1_HUMAN NADH/NADPH mitogenic oxidase subunit P65-MOX # AltName NOX1_HUMAN NOH-1 # BioGrid 117966 3 # CCDS CCDS14474 -. [Q9Y5S8-1] # CCDS CCDS14475 -. [Q9Y5S8-3] # COFACTOR Name=FAD; Xref=ChEBI:CHEBI 57692; Evidence={ECO:0000305}; # COFACTOR Name=NADP(+); Xref=ChEBI:CHEBI 58349; Evidence={ECO:0000305}; # ChiTaRS NOX1 human # DISEASE NOX1_HUMAN Note=Defects in NOX1 may play a role in the pathogenesis of very early onset inflammatory bowel disease (VEOIBD), a chronic, relapsing inflammation of the gastrointestinal tract with a complex etiology diagnosed before 6 years of age. VEOIBD is subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn disease may affect any part of the gastrointestinal tract from the mouth to the anus, but the phenotype of children with onset of Crohn disease occurring younger than the age of 10 is predominantly colonic, with a lower risk of ileal disease. Bowel inflammation is transmural and discontinuous; it may contain granulomas or be associated with intestinal or perianal fistulas. In contrast, in ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers; fistulas and granulomas are not observed. Both diseases include extraintestinal inflammation of the skin, eyes, or joints. {ECO 0000269|PubMed 26301257}. # ENZYME REGULATION NOX1_HUMAN The oxidase activity is potentiated by NOXA1 and NOXO1. {ECO 0000269|PubMed 14617635, ECO 0000269|PubMed 16329988}. # Ensembl ENST00000217885 ENSP00000217885; ENSG00000007952. [Q9Y5S8-3] # Ensembl ENST00000372966 ENSP00000362057; ENSG00000007952. [Q9Y5S8-1] # ExpressionAtlas Q9Y5S8 baseline and differential # FUNCTION NOX1_HUMAN NOH-1S is a voltage-gated proton channel that mediates the H(+) currents of resting phagocytes and other tissues. It participates in the regulation of cellular pH and is blocked by zinc. NOH-1L is a pyridine nucleotide-dependent oxidoreductase that generates superoxide and might conduct H(+) ions as part of its electron transport mechanism, whereas NOH-1S does not contain an electron transport chain. # GO_component GO:0005769 early endosome; IDA:BHF-UCL. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0016021 integral component of membrane; IC:BHF-UCL. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0043020 NADPH oxidase complex; IDA:BHF-UCL. # GO_component GO:0071438 invadopodium membrane; IDA:UniProtKB. # GO_function GO:0016175 superoxide-generating NADPH oxidase activity; TAS:UniProtKB. # GO_function GO:0030171 voltage-gated proton channel activity; IDA:BHF-UCL. # GO_function GO:0046872 metal ion binding; IEA:UniProtKB-KW. # GO_function GO:0048365 Rac GTPase binding; IPI:BHF-UCL. # GO_function GO:0050661 NADP binding; IC:BHF-UCL. # GO_process GO:0001525 angiogenesis; IMP:BHF-UCL. # GO_process GO:0003081 regulation of systemic arterial blood pressure by renin-angiotensin; IEA:Ensembl. # GO_process GO:0006739 NADP metabolic process; IC:BHF-UCL. # GO_process GO:0006801 superoxide metabolic process; IMP:BHF-UCL. # GO_process GO:0006954 inflammatory response; TAS:BHF-UCL. # GO_process GO:0007165 signal transduction; TAS:BHF-UCL. # GO_process GO:0008217 regulation of blood pressure; TAS:BHF-UCL. # GO_process GO:0008284 positive regulation of cell proliferation; IDA:BHF-UCL. # GO_process GO:0010575 positive regulation of vascular endothelial growth factor production; IEP:BHF-UCL. # GO_process GO:0015992 proton transport; IDA:BHF-UCL. # GO_process GO:0016477 cell migration; IMP:BHF-UCL. # GO_process GO:0030198 extracellular matrix organization; IEA:Ensembl. # GO_process GO:0042554 superoxide anion generation; IDA:BHF-UCL. # GO_process GO:0042743 hydrogen peroxide metabolic process; IDA:BHF-UCL. # GO_process GO:0045726 positive regulation of integrin biosynthetic process; IMP:BHF-UCL. # GO_process GO:0045730 respiratory burst; TAS:BHF-UCL. # GO_process GO:0046330 positive regulation of JNK cascade; IEA:Ensembl. # GO_process GO:0048661 positive regulation of smooth muscle cell proliferation; ISS:BHF-UCL. # GO_process GO:0051454 intracellular pH elevation; IDA:BHF-UCL. # GO_process GO:0055114 oxidation-reduction process; IDA:BHF-UCL. # GO_process GO:0071455 cellular response to hyperoxia; IEA:Ensembl. # GO_process GO:0072592 oxygen metabolic process; IEA:Ensembl. # GO_process GO:1902177 positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway; IEA:Ensembl. # GO_process GO:1990451 cellular stress response to acidic pH; IDA:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005768 endosome # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0016491 oxidoreductase activity # GOslim_function GO:0019899 enzyme binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0030198 extracellular matrix organization # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0044281 small molecule metabolic process # GOslim_process GO:0048646 anatomical structure formation involved in morphogenesis # GOslim_process GO:0048870 cell motility # GOslim_process GO:0051186 cofactor metabolic process # Genevisible Q9Y5S8 HS # HGNC HGNC:7889 NOX1 # InterPro IPR000778 Cyt_b245_heavy_chain # InterPro IPR013112 FAD-bd_8 # InterPro IPR013121 Fe_red_NAD-bd_6 # InterPro IPR013130 Fe3_Rdtase_TM_dom # InterPro IPR017927 Fd_Rdtase_FAD-bd # InterPro IPR017938 Riboflavin_synthase-like_b-brl # InterPro IPR029650 NOX1 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Pathway ko04066 HIF-1 signaling pathway # KEGG_Pathway ko04145 Phagosome # KEGG_Pathway ko04380 Osteoclast differentiation # KEGG_Pathway ko04670 Leukocyte transendothelial migration # MIM 300225 gene # Organism NOX1_HUMAN Homo sapiens (Human) # PANTHER PTHR11972:SF71 PTHR11972:SF71; 2 # PRINTS PR00466 GP91PHOX # PROSITE PS51384 FAD_FR # PeroxiBase 5410 HsNOx01 # Pfam PF01794 Ferric_reduct # Pfam PF08022 FAD_binding_8 # Pfam PF08030 NAD_binding_6 # Proteomes UP000005640 Chromosome X # Reactome R-HSA-5668599 RHO GTPases Activate NADPH Oxidases # RecName NOX1_HUMAN NADPH oxidase 1 # RefSeq NP_001258744 NM_001271815.1 # RefSeq NP_008983 NM_007052.4. [Q9Y5S8-1] # RefSeq NP_039249 NM_013955.2. [Q9Y5S8-3] # SIMILARITY Contains 1 FAD-binding FR-type domain. {ECO:0000255|PROSITE-ProRule PRU00716}. # SIMILARITY Contains 1 ferric oxidoreductase domain. {ECO 0000305}. # SUBCELLULAR LOCATION NOX1_HUMAN Cell projection, invadopodium membrane {ECO 0000269|PubMed 19755710}; Multi-pass membrane protein {ECO 0000269|PubMed 19755710}. Cell membrane {ECO 0000269|PubMed 26301257}. # SUBUNIT NOX1_HUMAN NOX1, NOXA1, NOXO1, RAC1 and CYBA forms a functional multimeric complex supporting reactive oxygen species (ROS) production. Interacts with NOXA1 and NOXO1. {ECO 0000269|PubMed 16329988, ECO 0000269|PubMed 16636067}. # SUPFAM SSF63380 SSF63380 # TCDB 5.B.1.1 the phagocyte (gp91(phox)) nadph oxidase family # TISSUE SPECIFICITY NOX1_HUMAN NOH-1L is detected in colon, uterus, prostate, and colon carcinoma, but not in peripheral blood leukocytes. NOH- 1S is detected only in colon and colon carcinoma cells. # UCSC uc004egj human. [Q9Y5S8-1] # eggNOG ENOG410XNZY LUCA # eggNOG KOG0039 Eukaryota BLAST swissprot:NOX1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:NOX1_HUMAN BioCyc ZFISH:HS00225-MONOMER http://biocyc.org/getid?id=ZFISH:HS00225-MONOMER COXPRESdb 27035 http://coxpresdb.jp/data/gene/27035.shtml CleanEx HS_NOX1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_NOX1 DIP DIP-60457N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-60457N DOI 10.1016/j.bbrc.2005.11.108 http://dx.doi.org/10.1016/j.bbrc.2005.11.108 DOI 10.1016/j.bbrc.2013.12.086 http://dx.doi.org/10.1016/j.bbrc.2013.12.086 DOI 10.1016/j.jcmgh.2015.06.005 http://dx.doi.org/10.1016/j.jcmgh.2015.06.005 DOI 10.1038/43459 http://dx.doi.org/10.1038/43459 DOI 10.1038/nature03440 http://dx.doi.org/10.1038/nature03440 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.M305968200 http://dx.doi.org/10.1074/jbc.M305968200 DOI 10.1074/jbc.M512751200 http://dx.doi.org/10.1074/jbc.M512751200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.287.5450.138 http://dx.doi.org/10.1126/science.287.5450.138 DOI 10.1126/scisignal.2000370 http://dx.doi.org/10.1126/scisignal.2000370 EC_number EC:1.-.-.- http://www.genome.jp/dbget-bin/www_bget?EC:1.-.-.- EMBL AF127763 http://www.ebi.ac.uk/ena/data/view/AF127763 EMBL AF166326 http://www.ebi.ac.uk/ena/data/view/AF166326 EMBL AF166327 http://www.ebi.ac.uk/ena/data/view/AF166327 EMBL AF166328 http://www.ebi.ac.uk/ena/data/view/AF166328 EMBL AK292201 http://www.ebi.ac.uk/ena/data/view/AK292201 EMBL BC075014 http://www.ebi.ac.uk/ena/data/view/BC075014 EMBL BC075015 http://www.ebi.ac.uk/ena/data/view/BC075015 EMBL CH471115 http://www.ebi.ac.uk/ena/data/view/CH471115 EMBL DQ314883 http://www.ebi.ac.uk/ena/data/view/DQ314883 EMBL Z83819 http://www.ebi.ac.uk/ena/data/view/Z83819 EMBL Z83819 http://www.ebi.ac.uk/ena/data/view/Z83819 ENZYME 1.-.-.- http://enzyme.expasy.org/EC/1.-.-.- Ensembl ENST00000217885 http://www.ensembl.org/id/ENST00000217885 Ensembl ENST00000372966 http://www.ensembl.org/id/ENST00000372966 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005769 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005769 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0043020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043020 GO_component GO:0071438 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071438 GO_function GO:0016175 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016175 GO_function GO:0030171 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030171 GO_function GO:0046872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046872 GO_function GO:0048365 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048365 GO_function GO:0050661 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050661 GO_process GO:0001525 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001525 GO_process GO:0003081 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003081 GO_process GO:0006739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006739 GO_process GO:0006801 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006801 GO_process GO:0006954 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006954 GO_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GO_process GO:0008217 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008217 GO_process GO:0008284 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008284 GO_process GO:0010575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010575 GO_process GO:0015992 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015992 GO_process GO:0016477 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016477 GO_process GO:0030198 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030198 GO_process GO:0042554 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042554 GO_process GO:0042743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042743 GO_process GO:0045726 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045726 GO_process GO:0045730 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045730 GO_process GO:0046330 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046330 GO_process GO:0048661 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048661 GO_process GO:0051454 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051454 GO_process GO:0055114 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055114 GO_process GO:0071455 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071455 GO_process GO:0072592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0072592 GO_process GO:1902177 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902177 GO_process GO:1990451 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1990451 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0016491 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016491 GOslim_function GO:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0030198 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030198 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GOslim_process GO:0048646 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048646 GOslim_process GO:0048870 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048870 GOslim_process GO:0051186 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051186 GeneCards NOX1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=NOX1 GeneID 27035 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=27035 GeneTree ENSGT00550000074350 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074350 HGNC HGNC:7889 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:7889 HOGENOM HOG000216669 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000216669&db=HOGENOM6 HOVERGEN HBG003760 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG003760&db=HOVERGEN HPA HPA035299 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA035299 HPA HPA035300 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA035300 InParanoid Q9Y5S8 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9Y5S8 IntEnz 1 http://www.ebi.ac.uk/intenz/query?cmd=Search&q=1 InterPro IPR000778 http://www.ebi.ac.uk/interpro/entry/IPR000778 InterPro IPR013112 http://www.ebi.ac.uk/interpro/entry/IPR013112 InterPro IPR013121 http://www.ebi.ac.uk/interpro/entry/IPR013121 InterPro IPR013130 http://www.ebi.ac.uk/interpro/entry/IPR013130 InterPro IPR017927 http://www.ebi.ac.uk/interpro/entry/IPR017927 InterPro IPR017938 http://www.ebi.ac.uk/interpro/entry/IPR017938 InterPro IPR029650 http://www.ebi.ac.uk/interpro/entry/IPR029650 Jabion 27035 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=27035 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Gene hsa:27035 http://www.genome.jp/dbget-bin/www_bget?hsa:27035 KEGG_Orthology KO:K08008 http://www.genome.jp/dbget-bin/www_bget?KO:K08008 KEGG_Pathway ko04066 http://www.genome.jp/kegg-bin/show_pathway?ko04066 KEGG_Pathway ko04145 http://www.genome.jp/kegg-bin/show_pathway?ko04145 KEGG_Pathway ko04380 http://www.genome.jp/kegg-bin/show_pathway?ko04380 KEGG_Pathway ko04670 http://www.genome.jp/kegg-bin/show_pathway?ko04670 MIM 300225 http://www.ncbi.nlm.nih.gov/omim/300225 OMA IATSHPK http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=IATSHPK OrthoDB EOG091G09RV http://cegg.unige.ch/orthodb/results?searchtext=EOG091G09RV PANTHER PTHR11972:SF71 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11972:SF71 PRINTS PR00466 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00466 PROSITE PS51384 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51384 PSORT swissprot:NOX1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:NOX1_HUMAN PSORT-B swissprot:NOX1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:NOX1_HUMAN PSORT2 swissprot:NOX1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:NOX1_HUMAN PeroxiBase 5410 http://peroxibase.toulouse.inra.fr/listing.php?action=view&id=5410 Pfam PF01794 http://pfam.xfam.org/family/PF01794 Pfam PF08022 http://pfam.xfam.org/family/PF08022 Pfam PF08030 http://pfam.xfam.org/family/PF08030 PharmGKB PA31690 http://www.pharmgkb.org/do/serve?objId=PA31690&objCls=Gene Phobius swissprot:NOX1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:NOX1_HUMAN PhylomeDB Q9Y5S8 http://phylomedb.org/?seqid=Q9Y5S8 ProteinModelPortal Q9Y5S8 http://www.proteinmodelportal.org/query/uniprot/Q9Y5S8 PubMed 10485709 http://www.ncbi.nlm.nih.gov/pubmed/10485709 PubMed 10615049 http://www.ncbi.nlm.nih.gov/pubmed/10615049 PubMed 14617635 http://www.ncbi.nlm.nih.gov/pubmed/14617635 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15772651 http://www.ncbi.nlm.nih.gov/pubmed/15772651 PubMed 16329988 http://www.ncbi.nlm.nih.gov/pubmed/16329988 PubMed 16636067 http://www.ncbi.nlm.nih.gov/pubmed/16636067 PubMed 19755710 http://www.ncbi.nlm.nih.gov/pubmed/19755710 PubMed 24365146 http://www.ncbi.nlm.nih.gov/pubmed/24365146 PubMed 26301257 http://www.ncbi.nlm.nih.gov/pubmed/26301257 Reactome R-HSA-5668599 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5668599 RefSeq NP_001258744 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001258744 RefSeq NP_008983 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_008983 RefSeq NP_039249 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_039249 STRING 9606.ENSP00000362057 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000362057&targetmode=cogs SUPFAM SSF63380 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF63380 TCDB 5.B.1.1 http://www.tcdb.org/search/result.php?tc=5.B.1.1 UCSC uc004egj http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc004egj&org=rat UniGene Hs.592227 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.592227 UniProtKB NOX1_HUMAN http://www.uniprot.org/uniprot/NOX1_HUMAN UniProtKB-AC Q9Y5S8 http://www.uniprot.org/uniprot/Q9Y5S8 charge swissprot:NOX1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:NOX1_HUMAN eggNOG ENOG410XNZY http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XNZY eggNOG KOG0039 http://eggnogapi.embl.de/nog_data/html/tree/KOG0039 epestfind swissprot:NOX1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:NOX1_HUMAN garnier swissprot:NOX1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:NOX1_HUMAN helixturnhelix swissprot:NOX1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:NOX1_HUMAN hmoment swissprot:NOX1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:NOX1_HUMAN iep swissprot:NOX1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:NOX1_HUMAN inforesidue swissprot:NOX1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:NOX1_HUMAN neXtProt NX_Q9Y5S8 http://www.nextprot.org/db/entry/NX_Q9Y5S8 octanol swissprot:NOX1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:NOX1_HUMAN pepcoil swissprot:NOX1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:NOX1_HUMAN pepdigest swissprot:NOX1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:NOX1_HUMAN pepinfo swissprot:NOX1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:NOX1_HUMAN pepnet swissprot:NOX1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:NOX1_HUMAN pepstats swissprot:NOX1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:NOX1_HUMAN pepwheel swissprot:NOX1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:NOX1_HUMAN pepwindow swissprot:NOX1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:NOX1_HUMAN sigcleave swissprot:NOX1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:NOX1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS GTR14_HUMAN Event=Alternative splicing; Named isoforms=5; Name=1; Synonyms=GLUT14-L; IsoId=Q8TDB8-1; Sequence=Displayed; Name=2; Synonyms=GLUT14-S; IsoId=Q8TDB8-2; Sequence=VSP_014450; Name=3; IsoId=Q8TDB8-3; Sequence=VSP_014449; Note=No experimental confirmation available.; Name=4; IsoId=Q8TDB8-4; Sequence=VSP_055253; Note=No experimental confirmation available.; Name=5; IsoId=Q8TDB8-5; Sequence=VSP_055254; Note=No experimental confirmation available.; # AltName GTR14_HUMAN Glucose transporter type 14 # BioGrid 126837 7 # CCDS CCDS66300 -. [Q8TDB8-4] # CCDS CCDS66301 -. [Q8TDB8-2] # CCDS CCDS66302 -. [Q8TDB8-5] # CCDS CCDS8585 -. [Q8TDB8-1] # CDD cd06174 MFS # Ensembl ENST00000340749 ENSP00000340450; ENSG00000173262. [Q8TDB8-2] # Ensembl ENST00000396589 ENSP00000379834; ENSG00000173262. [Q8TDB8-1] # Ensembl ENST00000431042 ENSP00000407287; ENSG00000173262. [Q8TDB8-2] # Ensembl ENST00000535295 ENSP00000440492; ENSG00000173262. [Q8TDB8-4] # Ensembl ENST00000539924 ENSP00000445929; ENSG00000173262. [Q8TDB8-5] # Ensembl ENST00000542505 ENSP00000438484; ENSG00000173262. [Q8TDB8-3] # Ensembl ENST00000542546 ENSP00000443903; ENSG00000173262. [Q8TDB8-4] # Ensembl ENST00000543909 ENSP00000440480; ENSG00000173262. [Q8TDB8-1] # Ensembl ENST00000616981 ENSP00000482927; ENSG00000173262. [Q8TDB8-1] # ExpressionAtlas Q8TDB8 baseline and differential # FUNCTION GTR14_HUMAN Facilitative glucose transporter (By similarity). May have a specific function related to spermatogenesis. {ECO 0000250}. # GO_component GO:0005634 nucleus; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0005355 glucose transmembrane transporter activity; IEA:InterPro. # GO_process GO:0007275 multicellular organism development; IEA:UniProtKB-KW. # GO_process GO:0007283 spermatogenesis; IEA:UniProtKB-KW. # GO_process GO:0030154 cell differentiation; IEA:UniProtKB-KW. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005634 nucleus # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0008150 biological_process # GOslim_process GO:0030154 cell differentiation # GOslim_process GO:0048856 anatomical structure development # Genevisible Q8TDB8 HS # HGNC HGNC:18301 SLC2A14 # InterPro IPR002945 Glc_transpt_3 # InterPro IPR003663 Sugar/inositol_transpt # InterPro IPR005828 MFS_sugar_transport-like # InterPro IPR005829 Sugar_transporter_CS # InterPro IPR020846 MFS_dom # MIM 611039 gene # MISCELLANEOUS GTR14_HUMAN GLUT14 is a recent (less than 5 M year old) duplication of GLUT3. # Organism GTR14_HUMAN Homo sapiens (Human) # PRINTS PR00171 SUGRTRNSPORT # PRINTS PR01192 GLUCTRSPORT3 # PROSITE PS00216 SUGAR_TRANSPORT_1 # PROSITE PS00217 SUGAR_TRANSPORT_2 # PROSITE PS50850 MFS # Pfam PF00083 Sugar_tr # Proteomes UP000005640 Chromosome 12 # Reactome R-HSA-428790 Facilitative Na+-independent glucose transporters # Reactome R-HSA-70153 Glucose transport # RecName GTR14_HUMAN Solute carrier family 2, facilitated glucose transporter member 14 # RefSeq NP_001273162 NM_001286233.1. [Q8TDB8-1] # RefSeq NP_001273163 NM_001286234.1. [Q8TDB8-2] # RefSeq NP_001273164 NM_001286235.1. [Q8TDB8-2] # RefSeq NP_001273165 NM_001286236.1. [Q8TDB8-4] # RefSeq NP_001273166 NM_001286237.1. [Q8TDB8-5] # RefSeq NP_703150 NM_153449.3. [Q8TDB8-1] # RefSeq XP_005253372 XM_005253315.3. [Q8TDB8-2] # RefSeq XP_005253374 XM_005253317.4. [Q8TDB8-2] # RefSeq XP_011518864 XM_011520562.1. [Q8TDB8-2] # RefSeq XP_011518865 XM_011520563.2. [Q8TDB8-2] # RefSeq XP_011518866 XM_011520564.2. [Q8TDB8-4] # RefSeq XP_011518867 XM_011520565.2. [Q8TDB8-4] # RefSeq XP_016874335 XM_017018846.1. [Q8TDB8-2] # RefSeq XP_016874336 XM_017018847.1. [Q8TDB8-2] # SIMILARITY Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION GTR14_HUMAN Membrane; Multi-pass membrane protein. # SUPFAM SSF103473 SSF103473; 2 # TCDB 2.A.1.1.90 the major facilitator superfamily (mfs) # TIGRFAMs TIGR00879 SP # TISSUE SPECIFICITY Expressed mainly in testis. {ECO:0000269|PubMed 12504846}. # UCSC uc001qtk human. [Q8TDB8-1] # eggNOG COG0477 LUCA # eggNOG KOG0569 Eukaryota BLAST swissprot:GTR14_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:GTR14_HUMAN BioCyc ZFISH:ENSG00000173262-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000173262-MONOMER COXPRESdb 144195 http://coxpresdb.jp/data/gene/144195.shtml CleanEx HS_SLC2A14 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC2A14 DOI 10.1006/geno.2002.7010 http://dx.doi.org/10.1006/geno.2002.7010 DOI 10.1038/nature04569 http://dx.doi.org/10.1038/nature04569 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 EMBL AC006517 http://www.ebi.ac.uk/ena/data/view/AC006517 EMBL AC007536 http://www.ebi.ac.uk/ena/data/view/AC007536 EMBL AC124891 http://www.ebi.ac.uk/ena/data/view/AC124891 EMBL AF481878 http://www.ebi.ac.uk/ena/data/view/AF481878 EMBL AF481879 http://www.ebi.ac.uk/ena/data/view/AF481879 EMBL AK122783 http://www.ebi.ac.uk/ena/data/view/AK122783 EMBL AK126026 http://www.ebi.ac.uk/ena/data/view/AK126026 EMBL AK302881 http://www.ebi.ac.uk/ena/data/view/AK302881 EMBL AK316238 http://www.ebi.ac.uk/ena/data/view/AK316238 EMBL AL110298 http://www.ebi.ac.uk/ena/data/view/AL110298 EMBL AY357941 http://www.ebi.ac.uk/ena/data/view/AY357941 EMBL BC060766 http://www.ebi.ac.uk/ena/data/view/BC060766 EMBL CH471116 http://www.ebi.ac.uk/ena/data/view/CH471116 EMBL CH471116 http://www.ebi.ac.uk/ena/data/view/CH471116 Ensembl ENST00000340749 http://www.ensembl.org/id/ENST00000340749 Ensembl ENST00000396589 http://www.ensembl.org/id/ENST00000396589 Ensembl ENST00000431042 http://www.ensembl.org/id/ENST00000431042 Ensembl ENST00000535295 http://www.ensembl.org/id/ENST00000535295 Ensembl ENST00000539924 http://www.ensembl.org/id/ENST00000539924 Ensembl ENST00000542505 http://www.ensembl.org/id/ENST00000542505 Ensembl ENST00000542546 http://www.ensembl.org/id/ENST00000542546 Ensembl ENST00000543909 http://www.ensembl.org/id/ENST00000543909 Ensembl ENST00000616981 http://www.ensembl.org/id/ENST00000616981 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005355 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005355 GO_process GO:0007275 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007275 GO_process GO:0007283 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007283 GO_process GO:0030154 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030154 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0030154 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030154 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GeneCards SLC2A14 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC2A14 GeneID 144195 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=144195 GeneTree ENSGT00760000119022 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119022 HGNC HGNC:18301 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:18301 HOGENOM HOG000202871 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000202871&db=HOGENOM6 HOVERGEN HBG014816 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG014816&db=HOVERGEN HPA HPA006539 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA006539 InParanoid Q8TDB8 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8TDB8 InterPro IPR002945 http://www.ebi.ac.uk/interpro/entry/IPR002945 InterPro IPR003663 http://www.ebi.ac.uk/interpro/entry/IPR003663 InterPro IPR005828 http://www.ebi.ac.uk/interpro/entry/IPR005828 InterPro IPR005829 http://www.ebi.ac.uk/interpro/entry/IPR005829 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 144195 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=144195 KEGG_Gene hsa:144195 http://www.genome.jp/dbget-bin/www_bget?hsa:144195 MIM 611039 http://www.ncbi.nlm.nih.gov/omim/611039 OMA MAICSII http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=MAICSII OrthoDB EOG091G0A9K http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0A9K PRINTS PR00171 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00171 PRINTS PR01192 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01192 PROSITE PS00216 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00216 PROSITE PS00217 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00217 PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PSORT swissprot:GTR14_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:GTR14_HUMAN PSORT-B swissprot:GTR14_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:GTR14_HUMAN PSORT2 swissprot:GTR14_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:GTR14_HUMAN Pfam PF00083 http://pfam.xfam.org/family/PF00083 PharmGKB PA134885058 http://www.pharmgkb.org/do/serve?objId=PA134885058&objCls=Gene Phobius swissprot:GTR14_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:GTR14_HUMAN PhylomeDB Q8TDB8 http://phylomedb.org/?seqid=Q8TDB8 ProteinModelPortal Q8TDB8 http://www.proteinmodelportal.org/query/uniprot/Q8TDB8 PubMed 12504846 http://www.ncbi.nlm.nih.gov/pubmed/12504846 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16541075 http://www.ncbi.nlm.nih.gov/pubmed/16541075 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 Reactome R-HSA-428790 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-428790 Reactome R-HSA-70153 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-70153 RefSeq NP_001273162 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001273162 RefSeq NP_001273163 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001273163 RefSeq NP_001273164 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001273164 RefSeq NP_001273165 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001273165 RefSeq NP_001273166 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001273166 RefSeq NP_703150 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_703150 RefSeq XP_005253372 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005253372 RefSeq XP_005253374 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005253374 RefSeq XP_011518864 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011518864 RefSeq XP_011518865 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011518865 RefSeq XP_011518866 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011518866 RefSeq XP_011518867 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011518867 RefSeq XP_016874335 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016874335 RefSeq XP_016874336 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016874336 SMR Q8TDB8 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q8TDB8 STRING 9606.ENSP00000379834 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000379834&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.1.1.90 http://www.tcdb.org/search/result.php?tc=2.A.1.1.90 TIGRFAMs TIGR00879 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00879 UCSC uc001qtk http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001qtk&org=rat UniGene Hs.655169 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.655169 UniGene Hs.739527 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.739527 UniProtKB GTR14_HUMAN http://www.uniprot.org/uniprot/GTR14_HUMAN UniProtKB-AC Q8TDB8 http://www.uniprot.org/uniprot/Q8TDB8 charge swissprot:GTR14_HUMAN http://rest.g-language.org/emboss/charge/swissprot:GTR14_HUMAN eggNOG COG0477 http://eggnogapi.embl.de/nog_data/html/tree/COG0477 eggNOG KOG0569 http://eggnogapi.embl.de/nog_data/html/tree/KOG0569 epestfind swissprot:GTR14_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:GTR14_HUMAN garnier swissprot:GTR14_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:GTR14_HUMAN helixturnhelix swissprot:GTR14_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:GTR14_HUMAN hmoment swissprot:GTR14_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:GTR14_HUMAN iep swissprot:GTR14_HUMAN http://rest.g-language.org/emboss/iep/swissprot:GTR14_HUMAN inforesidue swissprot:GTR14_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:GTR14_HUMAN neXtProt NX_Q8TDB8 http://www.nextprot.org/db/entry/NX_Q8TDB8 octanol swissprot:GTR14_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:GTR14_HUMAN pepcoil swissprot:GTR14_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:GTR14_HUMAN pepdigest swissprot:GTR14_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:GTR14_HUMAN pepinfo swissprot:GTR14_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:GTR14_HUMAN pepnet swissprot:GTR14_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:GTR14_HUMAN pepstats swissprot:GTR14_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:GTR14_HUMAN pepwheel swissprot:GTR14_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:GTR14_HUMAN pepwindow swissprot:GTR14_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:GTR14_HUMAN sigcleave swissprot:GTR14_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:GTR14_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS GAS6_HUMAN Event=Alternative splicing; Named isoforms=5; Name=1; Synonyms=gas6SV; IsoId=Q14393-1; Sequence=Displayed; Name=2; IsoId=Q14393-2; Sequence=VSP_010494; Name=3; IsoId=Q14393-3; Sequence=VSP_010492, VSP_010493, VSP_010494; Note=No experimental confirmation available.; Name=4; IsoId=Q14393-4; Sequence=VSP_043832, VSP_010494; Name=5; IsoId=Q14393-5; Sequence=VSP_045685; Note=No experimental confirmation available.; # AltName GAS6_HUMAN AXL receptor tyrosine kinase ligand # BioGrid 108891 24 # CCDS CCDS45072 -. [Q14393-2] # ChiTaRS GAS6 human # Ensembl ENST00000327773 ENSP00000331831; ENSG00000183087. [Q14393-2] # FUNCTION GAS6_HUMAN (Microbial infection) Can bridges virus envelope phosphatidylserine to the TAM receptor tyrosine kinase Axl to mediate viral entry by apoptotic mimicry (PubMed 21501828). Plays a role in Dengue cell entry by apoptotic mimicry (PubMed 23084921). Plays a role in Vaccinia virus cell entry by apoptotic mimicry (PubMed 21501828). Plays a role in ebolavirus and marburgvirus cell entry by apoptotic mimicry (PubMed 17005688). {ECO 0000269|PubMed 17005688, ECO 0000269|PubMed 21501828, ECO 0000269|PubMed 23084921}. # FUNCTION GAS6_HUMAN Ligand for tyrosine-protein kinase receptors AXL, TYRO3 and MER whose signaling is implicated in cell growth and survival, cell adhesion and cell migration. GAS6/AXL signaling plays a role in various processes such as endothelial cell survival during acidification by preventing apoptosis, optimal cytokine signaling during human natural killer cell development, hepatic regeneration, gonadotropin-releasing hormone neuron survival and migration, platelet activation, or regulation of thrombotic responses. {ECO 0000269|PubMed 12364394, ECO 0000269|PubMed 18840707}. # GO_component GO:0005576 extracellular region; TAS:Reactome. # GO_component GO:0005615 extracellular space; IDA:UniProtKB. # GO_component GO:0005737 cytoplasm; IDA:UniProtKB. # GO_component GO:0005788 endoplasmic reticulum lumen; TAS:Reactome. # GO_component GO:0005796 Golgi lumen; TAS:Reactome. # GO_component GO:0031093 platelet alpha granule lumen; TAS:Reactome. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0001786 phosphatidylserine binding; IDA:UniProtKB. # GO_function GO:0005102 receptor binding; IDA:UniProtKB. # GO_function GO:0005245 voltage-gated calcium channel activity; IDA:UniProtKB. # GO_function GO:0005509 calcium ion binding; IEA:InterPro. # GO_function GO:0030296 protein tyrosine kinase activator activity; IDA:UniProtKB. # GO_function GO:0030971 receptor tyrosine kinase binding; IPI:UniProtKB. # GO_function GO:0043027 cysteine-type endopeptidase inhibitor activity involved in apoptotic process; IDA:UniProtKB. # GO_function GO:0048018 receptor agonist activity; IDA:MGI. # GO_function GO:0060090 binding, bridging; IDA:UniProtKB. # GO_process GO:0001764 neuron migration; IEA:Ensembl. # GO_process GO:0001934 positive regulation of protein phosphorylation; IDA:UniProtKB. # GO_process GO:0001961 positive regulation of cytokine-mediated signaling pathway; IMP:UniProtKB. # GO_process GO:0002576 platelet degranulation; TAS:Reactome. # GO_process GO:0003104 positive regulation of glomerular filtration; ISS:UniProtKB. # GO_process GO:0006465 signal peptide processing; TAS:Reactome. # GO_process GO:0006468 protein phosphorylation; IDA:UniProtKB. # GO_process GO:0006888 ER to Golgi vesicle-mediated transport; TAS:Reactome. # GO_process GO:0006909 phagocytosis; IDA:UniProtKB. # GO_process GO:0007050 cell cycle arrest; TAS:UniProtKB. # GO_process GO:0007155 cell adhesion; TAS:UniProtKB. # GO_process GO:0007165 signal transduction; IDA:UniProtKB. # GO_process GO:0007167 enzyme linked receptor protein signaling pathway; IEA:Ensembl. # GO_process GO:0008283 cell proliferation; TAS:UniProtKB. # GO_process GO:0009267 cellular response to starvation; IEA:Ensembl. # GO_process GO:0010628 positive regulation of gene expression; IDA:UniProtKB. # GO_process GO:0010804 negative regulation of tumor necrosis factor-mediated signaling pathway; IDA:UniProtKB. # GO_process GO:0010934 macrophage cytokine production; IEA:Ensembl. # GO_process GO:0016477 cell migration; TAS:UniProtKB. # GO_process GO:0018105 peptidyl-serine phosphorylation; IDA:UniProtKB. # GO_process GO:0019064 fusion of virus membrane with host plasma membrane; IDA:UniProtKB. # GO_process GO:0019079 viral genome replication; IDA:UniProtKB. # GO_process GO:0030168 platelet activation; TAS:UniProtKB. # GO_process GO:0031100 animal organ regeneration; IEA:Ensembl. # GO_process GO:0031589 cell-substrate adhesion; IEA:Ensembl. # GO_process GO:0032008 positive regulation of TOR signaling; ISS:UniProtKB. # GO_process GO:0032148 activation of protein kinase B activity; ISS:UniProtKB. # GO_process GO:0032689 negative regulation of interferon-gamma production; IDA:UniProtKB. # GO_process GO:0032715 negative regulation of interleukin-6 production; IDA:UniProtKB. # GO_process GO:0032720 negative regulation of tumor necrosis factor production; IDA:UniProtKB. # GO_process GO:0032825 positive regulation of natural killer cell differentiation; IDA:UniProtKB. # GO_process GO:0033138 positive regulation of peptidyl-serine phosphorylation; IDA:UniProtKB. # GO_process GO:0033159 negative regulation of protein import into nucleus, translocation; IDA:UniProtKB. # GO_process GO:0035457 cellular response to interferon-alpha; IDA:UniProtKB. # GO_process GO:0035690 cellular response to drug; IDA:UniProtKB. # GO_process GO:0035754 B cell chemotaxis; IDA:UniProtKB. # GO_process GO:0040008 regulation of growth; IEA:UniProtKB-KW. # GO_process GO:0043066 negative regulation of apoptotic process; IDA:UniProtKB. # GO_process GO:0043154 negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; IDA:UniProtKB. # GO_process GO:0043277 apoptotic cell clearance; IDA:UniProtKB. # GO_process GO:0043433 negative regulation of sequence-specific DNA binding transcription factor activity; IDA:UniProtKB. # GO_process GO:0043491 protein kinase B signaling; IDA:UniProtKB. # GO_process GO:0045860 positive regulation of protein kinase activity; IDA:UniProtKB. # GO_process GO:0045892 negative regulation of transcription, DNA-templated; IDA:UniProtKB. # GO_process GO:0046718 viral entry into host cell; IDA:UniProtKB. # GO_process GO:0046813 receptor-mediated virion attachment to host cell; IDA:UniProtKB. # GO_process GO:0046827 positive regulation of protein export from nucleus; IDA:UniProtKB. # GO_process GO:0048146 positive regulation of fibroblast proliferation; IDA:UniProtKB. # GO_process GO:0050711 negative regulation of interleukin-1 secretion; IDA:UniProtKB. # GO_process GO:0050766 positive regulation of phagocytosis; IDA:UniProtKB. # GO_process GO:0050900 leukocyte migration; TAS:Reactome. # GO_process GO:0051897 positive regulation of protein kinase B signaling; IDA:UniProtKB. # GO_process GO:0061098 positive regulation of protein tyrosine kinase activity; IDA:UniProtKB. # GO_process GO:0070168 negative regulation of biomineral tissue development; IDA:UniProtKB. # GO_process GO:0070374 positive regulation of ERK1 and ERK2 cascade; IDA:MGI. # GO_process GO:0070527 platelet aggregation; TAS:UniProtKB. # GO_process GO:0070588 calcium ion transmembrane transport; IDA:UniProtKB. # GO_process GO:0071307 cellular response to vitamin K; IDA:UniProtKB. # GO_process GO:0071333 cellular response to glucose stimulus; ISS:UniProtKB. # GO_process GO:0071363 cellular response to growth factor stimulus; IEA:Ensembl. # GO_process GO:0072661 protein targeting to plasma membrane; IDA:UniProtKB. # GO_process GO:0085029 extracellular matrix assembly; ISS:UniProtKB. # GO_process GO:0097028 dendritic cell differentiation; IEP:UniProtKB. # GO_process GO:0097241 hematopoietic stem cell migration to bone marrow; IDA:UniProtKB. # GO_process GO:1900142 negative regulation of oligodendrocyte apoptotic process; IDA:UniProtKB. # GO_process GO:1900165 negative regulation of interleukin-6 secretion; IDA:UniProtKB. # GO_process GO:2000270 negative regulation of fibroblast apoptotic process; IDA:UniProtKB. # GO_process GO:2000352 negative regulation of endothelial cell apoptotic process; IDA:UniProtKB. # GO_process GO:2000510 positive regulation of dendritic cell chemotaxis; IDA:UniProtKB. # GO_process GO:2000533 negative regulation of renal albumin absorption; ISS:UniProtKB. # GO_process GO:2000669 negative regulation of dendritic cell apoptotic process; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005576 extracellular region # GOslim_component GO:0005615 extracellular space # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0008289 lipid binding # GOslim_function GO:0019899 enzyme binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0030234 enzyme regulator activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0002376 immune system process # GOslim_process GO:0006464 cellular protein modification process # GOslim_process GO:0006605 protein targeting # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007155 cell adhesion # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0008283 cell proliferation # GOslim_process GO:0016192 vesicle-mediated transport # GOslim_process GO:0022607 cellular component assembly # GOslim_process GO:0030154 cell differentiation # GOslim_process GO:0030198 extracellular matrix organization # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0044403 symbiosis, encompassing mutualism through parasitism # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0048870 cell motility # GOslim_process GO:0051604 protein maturation # GOslim_process GO:0055085 transmembrane transport # GOslim_process GO:0061024 membrane organization # Gene3D 2.60.120.200 -; 2. # Gene3D 4.10.740.10 -; 1. # Genevisible Q14393 HS # HGNC HGNC:4168 GAS6 # INTERACTION GAS6_HUMAN P30530 AXL; NbExp=8; IntAct=EBI-2802811, EBI-2850927; # IntAct Q14393 13 # InterPro IPR000152 EGF-type_Asp/Asn_hydroxyl_site # InterPro IPR000294 GLA_domain # InterPro IPR000742 EGF-like_dom # InterPro IPR001791 Laminin_G # InterPro IPR001881 EGF-like_Ca-bd_dom # InterPro IPR009030 Growth_fac_rcpt_ # InterPro IPR013032 EGF-like_CS # InterPro IPR013320 ConA-like_dom # InterPro IPR017857 Coagulation_fac_subgr_Gla_dom # InterPro IPR018097 EGF_Ca-bd_CS # InterPro IPR026823 cEGF # KEGG_Brite ko04052 Cytokines # MIM 600441 gene # Organism GAS6_HUMAN Homo sapiens (Human) # PDB 1H30 X-ray; 2.20 A; A=261-721 # PDB 2C5D X-ray; 3.30 A; A/B=261-721 # PDB 4RA0 X-ray; 3.07 A; A/B=322-721 # PIR B48089 B48089 # PRINTS PR00001 GLABLOOD # PROSITE PS00010 ASX_HYDROXYL; 4 # PROSITE PS00011 GLA_1 # PROSITE PS00022 EGF_1 # PROSITE PS01186 EGF_2; 3 # PROSITE PS01187 EGF_CA; 3 # PROSITE PS50025 LAM_G_DOMAIN; 2 # PROSITE PS50026 EGF_3; 4 # PROSITE PS50998 GLA_2 # PTM GAS6_HUMAN Gamma-carboxyglutamate residues are formed by vitamin K dependent carboxylation. These residues are essential for the binding of calcium. {ECO 0000255|PROSITE-ProRule PRU00463}. # PTM GAS6_HUMAN Isoform 1 is proteolytically processed after secretion to yield a N-terminal 36 kDa protein and a C-terminal 50 kDa protein including the laminin G-like domains which activates AXL. {ECO 0000269|PubMed 9326369}. # Pfam PF00054 Laminin_G_1 # Pfam PF00594 Gla # Pfam PF02210 Laminin_G_2 # Pfam PF07645 EGF_CA # Pfam PF12661 hEGF; 2 # Pfam PF12662 cEGF # Proteomes UP000005640 Chromosome 13 # Reactome R-HSA-114608 Platelet degranulation # Reactome R-HSA-159740 Gamma-carboxylation of protein precursors # Reactome R-HSA-159763 Transport of gamma-carboxylated protein precursors from the endoplasmic reticulum to the Golgi apparatus # Reactome R-HSA-159782 Removal of aminoterminal propeptides from gamma-carboxylated proteins # Reactome R-HSA-202733 Cell surface interactions at the vascular wall # RecName GAS6_HUMAN Growth arrest-specific protein 6 # RefSeq NP_000811 NM_000820.3. [Q14393-2] # SIMILARITY Contains 1 Gla (gamma-carboxy-glutamate) domain. {ECO:0000255|PROSITE-ProRule PRU00463}. # SIMILARITY Contains 2 laminin G-like domains. {ECO:0000255|PROSITE-ProRule PRU00122}. # SIMILARITY Contains 4 EGF-like domains. {ECO:0000255|PROSITE- ProRule PRU00076}. # SMART SM00069 GLA # SMART SM00179 EGF_CA; 4 # SMART SM00181 EGF; 4 # SMART SM00282 LamG; 2 # SUBCELLULAR LOCATION GAS6_HUMAN Secreted {ECO 0000269|PubMed 9326369}. # SUBUNIT Heterodimer and heterotetramer with AXL. {ECO:0000269|PubMed 16362042}. # SUPFAM SSF49899 SSF49899; 3 # SUPFAM SSF57184 SSF57184 # SUPFAM SSF57630 SSF57630 # TISSUE SPECIFICITY GAS6_HUMAN Plasma. Isoform 1 and isoform 2 are widely expressed. Isoform 1 is the predominant form in spleen. {ECO 0000269|PubMed 8336730, ECO 0000269|PubMed 9326368}. # UCSC uc001vud human. [Q14393-1] # WEB RESOURCE GAS6_HUMAN Name=SeattleSNPs; URL="http //pga.gs.washington.edu/data/gas6/"; BLAST swissprot:GAS6_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:GAS6_HUMAN BioCyc ZFISH:G66-32537-MONOMER http://biocyc.org/getid?id=ZFISH:G66-32537-MONOMER COXPRESdb 2621 http://coxpresdb.jp/data/gene/2621.shtml CleanEx HS_GAS6 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_GAS6 DOI 10.1002/humu.20025 http://dx.doi.org/10.1002/humu.20025 DOI 10.1016/0092-8674(95)90520-0 http://dx.doi.org/10.1016/0092-8674(95)90520-0 DOI 10.1016/S0014-5793(97)01093-4 http://dx.doi.org/10.1016/S0014-5793(97)01093-4 DOI 10.1016/S0014-5793(97)01094-6 http://dx.doi.org/10.1016/S0014-5793(97)01094-6 DOI 10.1016/j.cell.2015.05.028 http://dx.doi.org/10.1016/j.cell.2015.05.028 DOI 10.1016/j.chom.2011.03.012 http://dx.doi.org/10.1016/j.chom.2011.03.012 DOI 10.1016/j.chom.2012.08.009 http://dx.doi.org/10.1016/j.chom.2012.08.009 DOI 10.1038/373623a0 http://dx.doi.org/10.1038/373623a0 DOI 10.1038/nature02379 http://dx.doi.org/10.1038/nature02379 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1038/sj.emboj.7600912 http://dx.doi.org/10.1038/sj.emboj.7600912 DOI 10.1074/jbc.271.16.9785 http://dx.doi.org/10.1074/jbc.271.16.9785 DOI 10.1074/jbc.271.47.30022 http://dx.doi.org/10.1074/jbc.271.47.30022 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1128/JVI.01157-06 http://dx.doi.org/10.1128/JVI.01157-06 DOI 10.1128/MCB.13.8.4976 http://dx.doi.org/10.1128/MCB.13.8.4976 DOI 10.1161/01.RES.0000036753.50601.E9 http://dx.doi.org/10.1161/01.RES.0000036753.50601.E9 DOI 10.1182/blood-2008-05-157073 http://dx.doi.org/10.1182/blood-2008-05-157073 EMBL AK092028 http://www.ebi.ac.uk/ena/data/view/AK092028 EMBL AK122969 http://www.ebi.ac.uk/ena/data/view/AK122969 EMBL AK126533 http://www.ebi.ac.uk/ena/data/view/AK126533 EMBL AK290803 http://www.ebi.ac.uk/ena/data/view/AK290803 EMBL AY170372 http://www.ebi.ac.uk/ena/data/view/AY170372 EMBL AY256830 http://www.ebi.ac.uk/ena/data/view/AY256830 EMBL AY256831 http://www.ebi.ac.uk/ena/data/view/AY256831 EMBL AY256832 http://www.ebi.ac.uk/ena/data/view/AY256832 EMBL AY256833 http://www.ebi.ac.uk/ena/data/view/AY256833 EMBL AY256834 http://www.ebi.ac.uk/ena/data/view/AY256834 EMBL AY256835 http://www.ebi.ac.uk/ena/data/view/AY256835 EMBL AY256836 http://www.ebi.ac.uk/ena/data/view/AY256836 EMBL AY256837 http://www.ebi.ac.uk/ena/data/view/AY256837 EMBL AY256838 http://www.ebi.ac.uk/ena/data/view/AY256838 EMBL AY256839 http://www.ebi.ac.uk/ena/data/view/AY256839 EMBL AY256840 http://www.ebi.ac.uk/ena/data/view/AY256840 EMBL AY256841 http://www.ebi.ac.uk/ena/data/view/AY256841 EMBL AY256842 http://www.ebi.ac.uk/ena/data/view/AY256842 EMBL AY256843 http://www.ebi.ac.uk/ena/data/view/AY256843 EMBL BC038984 http://www.ebi.ac.uk/ena/data/view/BC038984 EMBL BK001240 http://www.ebi.ac.uk/ena/data/view/BK001240 EMBL BX072579 http://www.ebi.ac.uk/ena/data/view/BX072579 EMBL EF631974 http://www.ebi.ac.uk/ena/data/view/EF631974 EMBL L13720 http://www.ebi.ac.uk/ena/data/view/L13720 Ensembl ENST00000327773 http://www.ensembl.org/id/ENST00000327773 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005576 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005576 GO_component GO:0005615 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005615 GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005788 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005788 GO_component GO:0005796 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005796 GO_component GO:0031093 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031093 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0001786 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001786 GO_function GO:0005102 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005102 GO_function GO:0005245 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005245 GO_function GO:0005509 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005509 GO_function GO:0030296 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030296 GO_function GO:0030971 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030971 GO_function GO:0043027 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043027 GO_function GO:0048018 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048018 GO_function GO:0060090 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060090 GO_process GO:0001764 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001764 GO_process GO:0001934 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001934 GO_process GO:0001961 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001961 GO_process GO:0002576 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002576 GO_process GO:0003104 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003104 GO_process GO:0006465 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006465 GO_process GO:0006468 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006468 GO_process GO:0006888 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006888 GO_process GO:0006909 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006909 GO_process GO:0007050 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007050 GO_process GO:0007155 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007155 GO_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GO_process GO:0007167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007167 GO_process GO:0008283 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008283 GO_process GO:0009267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009267 GO_process GO:0010628 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010628 GO_process GO:0010804 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010804 GO_process GO:0010934 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010934 GO_process GO:0016477 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016477 GO_process GO:0018105 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0018105 GO_process GO:0019064 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019064 GO_process GO:0019079 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019079 GO_process GO:0030168 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030168 GO_process GO:0031100 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031100 GO_process GO:0031589 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031589 GO_process GO:0032008 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032008 GO_process GO:0032148 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032148 GO_process GO:0032689 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032689 GO_process GO:0032715 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032715 GO_process GO:0032720 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032720 GO_process GO:0032825 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032825 GO_process GO:0033138 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033138 GO_process GO:0033159 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033159 GO_process GO:0035457 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035457 GO_process GO:0035690 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035690 GO_process GO:0035754 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035754 GO_process GO:0040008 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0040008 GO_process GO:0043066 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043066 GO_process GO:0043154 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043154 GO_process GO:0043277 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043277 GO_process GO:0043433 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043433 GO_process GO:0043491 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043491 GO_process GO:0045860 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045860 GO_process GO:0045892 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045892 GO_process GO:0046718 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046718 GO_process GO:0046813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046813 GO_process GO:0046827 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046827 GO_process GO:0048146 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048146 GO_process GO:0050711 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050711 GO_process GO:0050766 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050766 GO_process GO:0050900 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050900 GO_process GO:0051897 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051897 GO_process GO:0061098 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061098 GO_process GO:0070168 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070168 GO_process GO:0070374 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070374 GO_process GO:0070527 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070527 GO_process GO:0070588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070588 GO_process GO:0071307 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071307 GO_process GO:0071333 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071333 GO_process GO:0071363 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071363 GO_process GO:0072661 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0072661 GO_process GO:0085029 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0085029 GO_process GO:0097028 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097028 GO_process GO:0097241 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097241 GO_process GO:1900142 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1900142 GO_process GO:1900165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1900165 GO_process GO:2000270 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000270 GO_process GO:2000352 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000352 GO_process GO:2000510 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000510 GO_process GO:2000533 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000533 GO_process GO:2000669 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000669 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005576 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005576 GOslim_component GO:0005615 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005615 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0008289 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008289 GOslim_function GO:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0030234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030234 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0002376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002376 GOslim_process GO:0006464 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006464 GOslim_process GO:0006605 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006605 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007155 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007155 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0008283 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008283 GOslim_process GO:0016192 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016192 GOslim_process GO:0022607 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022607 GOslim_process GO:0030154 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030154 GOslim_process GO:0030198 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030198 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0044403 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044403 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0048870 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048870 GOslim_process GO:0051604 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051604 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GOslim_process GO:0061024 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061024 Gene3D 2.60.120.200 http://www.cathdb.info/version/latest/superfamily/2.60.120.200 Gene3D 4.10.740.10 http://www.cathdb.info/version/latest/superfamily/4.10.740.10 GeneCards GAS6 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=GAS6 GeneID 2621 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=2621 GeneTree ENSGT00530000063339 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000063339 HGNC HGNC:4168 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:4168 HOGENOM HOG000065758 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000065758&db=HOGENOM6 HOVERGEN HBG051702 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG051702&db=HOVERGEN HPA HPA008275 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA008275 HPA HPA056080 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA056080 InParanoid Q14393 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q14393 IntAct Q14393 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q14393* InterPro IPR000152 http://www.ebi.ac.uk/interpro/entry/IPR000152 InterPro IPR000294 http://www.ebi.ac.uk/interpro/entry/IPR000294 InterPro IPR000742 http://www.ebi.ac.uk/interpro/entry/IPR000742 InterPro IPR001791 http://www.ebi.ac.uk/interpro/entry/IPR001791 InterPro IPR001881 http://www.ebi.ac.uk/interpro/entry/IPR001881 InterPro IPR009030 http://www.ebi.ac.uk/interpro/entry/IPR009030 InterPro IPR013032 http://www.ebi.ac.uk/interpro/entry/IPR013032 InterPro IPR013320 http://www.ebi.ac.uk/interpro/entry/IPR013320 InterPro IPR017857 http://www.ebi.ac.uk/interpro/entry/IPR017857 InterPro IPR018097 http://www.ebi.ac.uk/interpro/entry/IPR018097 InterPro IPR026823 http://www.ebi.ac.uk/interpro/entry/IPR026823 Jabion 2621 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=2621 KEGG_Brite ko04052 http://www.genome.jp/dbget-bin/www_bget?ko04052 KEGG_Gene hsa:2621 http://www.genome.jp/dbget-bin/www_bget?hsa:2621 KEGG_Orthology KO:K05464 http://www.genome.jp/dbget-bin/www_bget?KO:K05464 MIM 600441 http://www.ncbi.nlm.nih.gov/omim/600441 MINT MINT-2735698 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-2735698 OMA PVIRLRF http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=PVIRLRF OrthoDB EOG091G034Z http://cegg.unige.ch/orthodb/results?searchtext=EOG091G034Z PDB 1H30 http://www.ebi.ac.uk/pdbe-srv/view/entry/1H30 PDB 2C5D http://www.ebi.ac.uk/pdbe-srv/view/entry/2C5D PDB 4RA0 http://www.ebi.ac.uk/pdbe-srv/view/entry/4RA0 PDBsum 1H30 http://www.ebi.ac.uk/pdbsum/1H30 PDBsum 2C5D http://www.ebi.ac.uk/pdbsum/2C5D PDBsum 4RA0 http://www.ebi.ac.uk/pdbsum/4RA0 PRINTS PR00001 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00001 PROSITE PS00010 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00010 PROSITE PS00011 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00011 PROSITE PS00022 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00022 PROSITE PS01186 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS01186 PROSITE PS01187 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS01187 PROSITE PS50025 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50025 PROSITE PS50026 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50026 PROSITE PS50998 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50998 PSORT swissprot:GAS6_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:GAS6_HUMAN PSORT-B swissprot:GAS6_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:GAS6_HUMAN PSORT2 swissprot:GAS6_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:GAS6_HUMAN Pfam PF00054 http://pfam.xfam.org/family/PF00054 Pfam PF00594 http://pfam.xfam.org/family/PF00594 Pfam PF02210 http://pfam.xfam.org/family/PF02210 Pfam PF07645 http://pfam.xfam.org/family/PF07645 Pfam PF12661 http://pfam.xfam.org/family/PF12661 Pfam PF12662 http://pfam.xfam.org/family/PF12662 PharmGKB PA28582 http://www.pharmgkb.org/do/serve?objId=PA28582&objCls=Gene Phobius swissprot:GAS6_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:GAS6_HUMAN PhylomeDB Q14393 http://phylomedb.org/?seqid=Q14393 ProteinModelPortal Q14393 http://www.proteinmodelportal.org/query/uniprot/Q14393 PubMed 12364394 http://www.ncbi.nlm.nih.gov/pubmed/12364394 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15057823 http://www.ncbi.nlm.nih.gov/pubmed/15057823 PubMed 15108283 http://www.ncbi.nlm.nih.gov/pubmed/15108283 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16362042 http://www.ncbi.nlm.nih.gov/pubmed/16362042 PubMed 17005688 http://www.ncbi.nlm.nih.gov/pubmed/17005688 PubMed 18840707 http://www.ncbi.nlm.nih.gov/pubmed/18840707 PubMed 21501828 http://www.ncbi.nlm.nih.gov/pubmed/21501828 PubMed 23084921 http://www.ncbi.nlm.nih.gov/pubmed/23084921 PubMed 26091039 http://www.ncbi.nlm.nih.gov/pubmed/26091039 PubMed 7854420 http://www.ncbi.nlm.nih.gov/pubmed/7854420 PubMed 7867073 http://www.ncbi.nlm.nih.gov/pubmed/7867073 PubMed 8336730 http://www.ncbi.nlm.nih.gov/pubmed/8336730 PubMed 8621659 http://www.ncbi.nlm.nih.gov/pubmed/8621659 PubMed 8939948 http://www.ncbi.nlm.nih.gov/pubmed/8939948 PubMed 9326368 http://www.ncbi.nlm.nih.gov/pubmed/9326368 PubMed 9326369 http://www.ncbi.nlm.nih.gov/pubmed/9326369 Reactome R-HSA-114608 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-114608 Reactome R-HSA-159740 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-159740 Reactome R-HSA-159763 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-159763 Reactome R-HSA-159782 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-159782 Reactome R-HSA-202733 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-202733 RefSeq NP_000811 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000811 SMART SM00069 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00069 SMART SM00179 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00179 SMART SM00181 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00181 SMART SM00282 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00282 SMR Q14393 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q14393 SUPFAM SSF49899 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF49899 SUPFAM SSF57184 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF57184 SUPFAM SSF57630 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF57630 UCSC uc001vud http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001vud&org=rat UniGene Hs.646346 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.646346 UniProtKB GAS6_HUMAN http://www.uniprot.org/uniprot/GAS6_HUMAN UniProtKB-AC Q14393 http://www.uniprot.org/uniprot/Q14393 charge swissprot:GAS6_HUMAN http://rest.g-language.org/emboss/charge/swissprot:GAS6_HUMAN epestfind swissprot:GAS6_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:GAS6_HUMAN garnier swissprot:GAS6_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:GAS6_HUMAN helixturnhelix swissprot:GAS6_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:GAS6_HUMAN hmoment swissprot:GAS6_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:GAS6_HUMAN iep swissprot:GAS6_HUMAN http://rest.g-language.org/emboss/iep/swissprot:GAS6_HUMAN inforesidue swissprot:GAS6_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:GAS6_HUMAN neXtProt NX_Q14393 http://www.nextprot.org/db/entry/NX_Q14393 octanol swissprot:GAS6_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:GAS6_HUMAN pepcoil swissprot:GAS6_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:GAS6_HUMAN pepdigest swissprot:GAS6_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:GAS6_HUMAN pepinfo swissprot:GAS6_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:GAS6_HUMAN pepnet swissprot:GAS6_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:GAS6_HUMAN pepstats swissprot:GAS6_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:GAS6_HUMAN pepwheel swissprot:GAS6_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:GAS6_HUMAN pepwindow swissprot:GAS6_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:GAS6_HUMAN sigcleave swissprot:GAS6_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:GAS6_HUMAN ## Database ID URL or Descriptions # AltName KCJ18_HUMAN Inward rectifier K(+) channel Kir2.6 # AltName KCJ18_HUMAN Potassium channel, inwardly rectifying subfamily J member 18 # DISEASE KCJ18_HUMAN Thyrotoxic periodic paralysis 2 (TTPP2) [MIM 613239] A sporadic muscular disorder characterized by episodic weakness and hypokalemia during a thyrotoxic state. It is clinically similar to hereditary hypokalemic periodic paralysis, except for the fact that hyperthyroidism is an absolute requirement for disease manifestation. The disease presents with recurrent episodes of acute muscular weakness of the four extremities that vary in severity from paresis to complete paralysis. Attacks are triggered by ingestion of a high carbohydrate load or strenuous physical activity followed by a period of rest. Thyrotoxic periodic paralysis can occur in association with any cause of hyperthyroidism, but is most commonly associated with Graves disease. {ECO 0000269|PubMed 20074522}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. # Ensembl ENST00000567955 ENSP00000457807; ENSG00000260458 # FUNCTION KCJ18_HUMAN Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. {ECO 0000269|PubMed 20074522}. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_function GO:0005242 inward rectifier potassium channel activity; IDA:UniProtKB. # GO_process GO:0010107 potassium ion import; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0055085 transmembrane transport # Gene3D 2.60.40.1400 -; 1. # HGNC HGNC:39080 KCNJ18 # INDUCTION Up-regulated by triiodothyronine. {ECO:0000269|PubMed 20074522}. # InterPro IPR003272 K_chnl_inward-rec_Kir2.2 # InterPro IPR013518 K_chnl_inward-rec_Kir_cyto # InterPro IPR013673 K_chnl_inward-rec_Kir_N # InterPro IPR014756 Ig_E-set # InterPro IPR016449 K_chnl_inward-rec_Kir # KEGG_Disease H00747 [Musculoskeletal disease; Nervous system disease; Inherited metabolic disease] Thyrotoxic hypokalemic periodic paralysis (TPP) # MIM 613236 gene # MIM 613239 phenotype # Organism KCJ18_HUMAN Homo sapiens (Human) # Orphanet 79102 Thyrotoxic periodic paralysis # PANTHER PTHR11767 PTHR11767 # PANTHER PTHR11767:SF14 PTHR11767:SF14 # PRINTS PR01320 KIRCHANNEL # PRINTS PR01325 KIR22CHANNEL # PTM KCJ18_HUMAN Probably phosphorylated by PKC; decreases single-channel open probability. {ECO 0000269|PubMed 20074522}. # Pfam PF01007 IRK # Pfam PF08466 IRK_N # Proteomes UP000005640 Chromosome 17 # RecName KCJ18_HUMAN Inward rectifier potassium channel 18 # RefSeq NP_001181887 NM_001194958.2 # SIMILARITY Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ12 subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION KCJ18_HUMAN Cell membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # SUPFAM SSF81296 SSF81296 # TISSUE SPECIFICITY Specifically expressed in skeletal muscle. {ECO:0000269|PubMed 20074522}. # UCSC uc032exz human # eggNOG ENOG410XQ62 LUCA # eggNOG KOG3827 Eukaryota BLAST swissprot:KCJ18_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCJ18_HUMAN COXPRESdb 100134444 http://coxpresdb.jp/data/gene/100134444.shtml DOI 10.1016/j.cell.2009.12.024 http://dx.doi.org/10.1016/j.cell.2009.12.024 DOI 10.1038/nature04689 http://dx.doi.org/10.1038/nature04689 EMBL AC233702 http://www.ebi.ac.uk/ena/data/view/AC233702 EMBL FJ434338 http://www.ebi.ac.uk/ena/data/view/FJ434338 Ensembl ENST00000567955 http://www.ensembl.org/id/ENST00000567955 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0005242 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005242 GO_process GO:0010107 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010107 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 2.60.40.1400 http://www.cathdb.info/version/latest/superfamily/2.60.40.1400 GeneCards KCNJ18 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNJ18 GeneID 100134444 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=100134444 GeneTree ENSGT00760000118842 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118842 HGNC HGNC:39080 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:39080 HOVERGEN HBG006178 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG006178&db=HOVERGEN HPA HPA027021 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA027021 InParanoid B7U540 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=B7U540 InterPro IPR003272 http://www.ebi.ac.uk/interpro/entry/IPR003272 InterPro IPR013518 http://www.ebi.ac.uk/interpro/entry/IPR013518 InterPro IPR013673 http://www.ebi.ac.uk/interpro/entry/IPR013673 InterPro IPR014756 http://www.ebi.ac.uk/interpro/entry/IPR014756 InterPro IPR016449 http://www.ebi.ac.uk/interpro/entry/IPR016449 Jabion 100134444 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=100134444 KEGG_Disease H00747 http://www.genome.jp/dbget-bin/www_bget?H00747 KEGG_Gene hsa:100134444 http://www.genome.jp/dbget-bin/www_bget?hsa:100134444 MIM 613236 http://www.ncbi.nlm.nih.gov/omim/613236 MIM 613239 http://www.ncbi.nlm.nih.gov/omim/613239 OMA HQHEMSI http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=HQHEMSI Orphanet 79102 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=79102 OrthoDB EOG091G08HC http://cegg.unige.ch/orthodb/results?searchtext=EOG091G08HC PANTHER PTHR11767 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11767 PANTHER PTHR11767:SF14 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11767:SF14 PRINTS PR01320 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01320 PRINTS PR01325 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01325 PSORT swissprot:KCJ18_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCJ18_HUMAN PSORT-B swissprot:KCJ18_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCJ18_HUMAN PSORT2 swissprot:KCJ18_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCJ18_HUMAN Pfam PF01007 http://pfam.xfam.org/family/PF01007 Pfam PF08466 http://pfam.xfam.org/family/PF08466 Phobius swissprot:KCJ18_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCJ18_HUMAN PhylomeDB B7U540 http://phylomedb.org/?seqid=B7U540 ProteinModelPortal B7U540 http://www.proteinmodelportal.org/query/uniprot/B7U540 PubMed 16625196 http://www.ncbi.nlm.nih.gov/pubmed/16625196 PubMed 20074522 http://www.ncbi.nlm.nih.gov/pubmed/20074522 RefSeq NP_001181887 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001181887 SMR B7U540 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=B7U540 STRING 9606.ENSP00000328150 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000328150&targetmode=cogs SUPFAM SSF81296 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81296 UCSC uc032exz http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc032exz&org=rat UniGene Hs.200629 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.200629 UniProtKB KCJ18_HUMAN http://www.uniprot.org/uniprot/KCJ18_HUMAN UniProtKB-AC B7U540 http://www.uniprot.org/uniprot/B7U540 charge swissprot:KCJ18_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCJ18_HUMAN eggNOG ENOG410XQ62 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XQ62 eggNOG KOG3827 http://eggnogapi.embl.de/nog_data/html/tree/KOG3827 epestfind swissprot:KCJ18_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCJ18_HUMAN garnier swissprot:KCJ18_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCJ18_HUMAN helixturnhelix swissprot:KCJ18_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCJ18_HUMAN hmoment swissprot:KCJ18_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCJ18_HUMAN iep swissprot:KCJ18_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCJ18_HUMAN inforesidue swissprot:KCJ18_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCJ18_HUMAN neXtProt NX_B7U540 http://www.nextprot.org/db/entry/NX_B7U540 octanol swissprot:KCJ18_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCJ18_HUMAN pepcoil swissprot:KCJ18_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCJ18_HUMAN pepdigest swissprot:KCJ18_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCJ18_HUMAN pepinfo swissprot:KCJ18_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCJ18_HUMAN pepnet swissprot:KCJ18_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCJ18_HUMAN pepstats swissprot:KCJ18_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCJ18_HUMAN pepwheel swissprot:KCJ18_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCJ18_HUMAN pepwindow swissprot:KCJ18_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCJ18_HUMAN sigcleave swissprot:KCJ18_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCJ18_HUMAN ## Database ID URL or Descriptions # AltName TM38B_HUMAN Transmembrane protein 38B # BioGrid 120454 8 # ChiTaRS TMEM38B human # DISEASE TM38B_HUMAN Osteogenesis imperfecta 14 (OI14) [MIM 615066] An autosomal recessive form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI14 is characterized by variable degrees of severity of multiple fractures and osteopenia, with normal teeth, sclerae, and hearing. Fractures first occur prenatally or by age 6 years. {ECO 0000269|PubMed 23054245, ECO 0000269|PubMed 23316006}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DOMAIN TM38B_HUMAN The second transmembrane domain has been proposed to cross only half of the lipid bilayer and to loop back into the cytosol, so that the domains on each side of this domain are both found on the cytosolic face of the membrane. The cytosolic loop may form an ion-conducting pore (By similarity). {ECO 0000250}. # Ensembl ENST00000374692 ENSP00000363824; ENSG00000095209 # ExpressionAtlas Q9NVV0 baseline and differential # FUNCTION TM38B_HUMAN Monovalent cation channel required for maintenance of rapid intracellular calcium release. May act as a potassium counter-ion channel that functions in synchronization with calcium release from intracellular stores (By similarity). {ECO 0000250}. # GO_component GO:0005634 nucleus; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0031965 nuclear membrane; NAS:BHF-UCL. # GO_component GO:0033017 sarcoplasmic reticulum membrane; NAS:BHF-UCL. # GO_function GO:0005267 potassium channel activity; TAS:BHF-UCL. # GO_function GO:0015269 calcium-activated potassium channel activity; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005634 nucleus # GOslim_function GO:0022857 transmembrane transporter activity # Genevisible Q9NVV0 HS # HGNC HGNC:25535 TMEM38B # IntAct Q9NVV0 4 # InterPro IPR007866 TRIC_channel # MIM 611236 gene # MIM 615066 phenotype # Organism TM38B_HUMAN Homo sapiens (Human) # Orphanet 216820 Osteogenesis imperfecta type 4 # PANTHER PTHR12454 PTHR12454 # Pfam PF05197 TRIC # Proteomes UP000005640 Chromosome 9 # RecName TM38B_HUMAN Trimeric intracellular cation channel type B # RefSeq NP_060582 NM_018112.2 # SEQUENCE CAUTION TM38B_HUMAN Sequence=CAH71458.1; Type=Erroneous gene model prediction; Evidence={ECO 0000305}; Sequence=CAI12390.1; Type=Erroneous gene model prediction; Evidence={ECO 0000305}; Sequence=CAI12391.1; Type=Erroneous gene model prediction; Evidence={ECO 0000305}; Sequence=CAI12392.1; Type=Erroneous gene model prediction; Evidence={ECO 0000305}; Sequence=CAI39690.1; Type=Erroneous initiation; Evidence={ECO 0000305}; Sequence=CAI39691.1; Type=Erroneous gene model prediction; Evidence={ECO 0000305}; Sequence=CAI39692.1; Type=Erroneous gene model prediction; Evidence={ECO 0000305}; # SIMILARITY Belongs to the TMEM38 family. {ECO 0000305}. # SUBCELLULAR LOCATION TM38B_HUMAN Endoplasmic reticulum membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. # SUBUNIT Homotrimer. {ECO 0000250}. # TCDB 1.A.62.1 the homotrimeric cation channel (tric) family # UCSC uc004bcu human # eggNOG ENOG410XQ0P LUCA # eggNOG KOG3944 Eukaryota BLAST swissprot:TM38B_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:TM38B_HUMAN BioCyc ZFISH:ENSG00000095209-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000095209-MONOMER COXPRESdb 55151 http://coxpresdb.jp/data/gene/55151.shtml CleanEx HS_TMEM38B http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_TMEM38B DOI 10.1002/humu.22274 http://dx.doi.org/10.1002/humu.22274 DOI 10.1016/j.molcel.2008.07.007 http://dx.doi.org/10.1016/j.molcel.2008.07.007 DOI 10.1038/nature02465 http://dx.doi.org/10.1038/nature02465 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 DOI 10.1136/jmedgenet-2012-101142 http://dx.doi.org/10.1136/jmedgenet-2012-101142 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AK001355 http://www.ebi.ac.uk/ena/data/view/AK001355 EMBL AL592437 http://www.ebi.ac.uk/ena/data/view/AL592437 EMBL AL592437 http://www.ebi.ac.uk/ena/data/view/AL592437 EMBL AL592437 http://www.ebi.ac.uk/ena/data/view/AL592437 EMBL AL592437 http://www.ebi.ac.uk/ena/data/view/AL592437 EMBL AL592437 http://www.ebi.ac.uk/ena/data/view/AL592437 EMBL AL592437 http://www.ebi.ac.uk/ena/data/view/AL592437 EMBL AL592437 http://www.ebi.ac.uk/ena/data/view/AL592437 EMBL AL592437 http://www.ebi.ac.uk/ena/data/view/AL592437 EMBL AL592437 http://www.ebi.ac.uk/ena/data/view/AL592437 EMBL AL592488 http://www.ebi.ac.uk/ena/data/view/AL592488 EMBL AL592488 http://www.ebi.ac.uk/ena/data/view/AL592488 EMBL AL592488 http://www.ebi.ac.uk/ena/data/view/AL592488 EMBL AL592488 http://www.ebi.ac.uk/ena/data/view/AL592488 EMBL AL592488 http://www.ebi.ac.uk/ena/data/view/AL592488 EMBL AL592488 http://www.ebi.ac.uk/ena/data/view/AL592488 EMBL AL627247 http://www.ebi.ac.uk/ena/data/view/AL627247 EMBL AL627247 http://www.ebi.ac.uk/ena/data/view/AL627247 EMBL AL627247 http://www.ebi.ac.uk/ena/data/view/AL627247 EMBL AL627247 http://www.ebi.ac.uk/ena/data/view/AL627247 EMBL AL627247 http://www.ebi.ac.uk/ena/data/view/AL627247 EMBL AL627247 http://www.ebi.ac.uk/ena/data/view/AL627247 EMBL AL627247 http://www.ebi.ac.uk/ena/data/view/AL627247 EMBL AL627247 http://www.ebi.ac.uk/ena/data/view/AL627247 EMBL AL627247 http://www.ebi.ac.uk/ena/data/view/AL627247 EMBL BC000049 http://www.ebi.ac.uk/ena/data/view/BC000049 EMBL CR457258 http://www.ebi.ac.uk/ena/data/view/CR457258 Ensembl ENST00000374692 http://www.ensembl.org/id/ENST00000374692 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0031965 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031965 GO_component GO:0033017 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033017 GO_function GO:0005267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005267 GO_function GO:0015269 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015269 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GeneCards TMEM38B http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=TMEM38B GeneID 55151 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=55151 GeneTree ENSGT00390000018845 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000018845 HGNC HGNC:25535 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:25535 HOGENOM HOG000037929 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000037929&db=HOGENOM6 HOVERGEN HBG059853 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG059853&db=HOVERGEN HPA HPA018465 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA018465 InParanoid Q9NVV0 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9NVV0 IntAct Q9NVV0 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9NVV0* InterPro IPR007866 http://www.ebi.ac.uk/interpro/entry/IPR007866 Jabion 55151 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=55151 KEGG_Gene hsa:55151 http://www.genome.jp/dbget-bin/www_bget?hsa:55151 MIM 611236 http://www.ncbi.nlm.nih.gov/omim/611236 MIM 615066 http://www.ncbi.nlm.nih.gov/omim/615066 OMA KMSYPSK http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=KMSYPSK Orphanet 216820 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=216820 OrthoDB EOG091G0GQP http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0GQP PANTHER PTHR12454 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12454 PSORT swissprot:TM38B_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:TM38B_HUMAN PSORT-B swissprot:TM38B_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:TM38B_HUMAN PSORT2 swissprot:TM38B_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:TM38B_HUMAN Pfam PF05197 http://pfam.xfam.org/family/PF05197 PharmGKB PA134916126 http://www.pharmgkb.org/do/serve?objId=PA134916126&objCls=Gene Phobius swissprot:TM38B_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:TM38B_HUMAN PhylomeDB Q9NVV0 http://phylomedb.org/?seqid=Q9NVV0 ProteinModelPortal Q9NVV0 http://www.proteinmodelportal.org/query/uniprot/Q9NVV0 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15164053 http://www.ncbi.nlm.nih.gov/pubmed/15164053 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 18691976 http://www.ncbi.nlm.nih.gov/pubmed/18691976 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 23054245 http://www.ncbi.nlm.nih.gov/pubmed/23054245 PubMed 23316006 http://www.ncbi.nlm.nih.gov/pubmed/23316006 RefSeq NP_060582 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_060582 STRING 9606.ENSP00000363824 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000363824&targetmode=cogs TCDB 1.A.62.1 http://www.tcdb.org/search/result.php?tc=1.A.62.1 UCSC uc004bcu http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc004bcu&org=rat UniGene Hs.411925 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.411925 UniGene Hs.618078 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.618078 UniProtKB TM38B_HUMAN http://www.uniprot.org/uniprot/TM38B_HUMAN UniProtKB-AC Q9NVV0 http://www.uniprot.org/uniprot/Q9NVV0 charge swissprot:TM38B_HUMAN http://rest.g-language.org/emboss/charge/swissprot:TM38B_HUMAN eggNOG ENOG410XQ0P http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XQ0P eggNOG KOG3944 http://eggnogapi.embl.de/nog_data/html/tree/KOG3944 epestfind swissprot:TM38B_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:TM38B_HUMAN garnier swissprot:TM38B_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:TM38B_HUMAN helixturnhelix swissprot:TM38B_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:TM38B_HUMAN hmoment swissprot:TM38B_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:TM38B_HUMAN iep swissprot:TM38B_HUMAN http://rest.g-language.org/emboss/iep/swissprot:TM38B_HUMAN inforesidue swissprot:TM38B_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:TM38B_HUMAN neXtProt NX_Q9NVV0 http://www.nextprot.org/db/entry/NX_Q9NVV0 octanol swissprot:TM38B_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:TM38B_HUMAN pepcoil swissprot:TM38B_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:TM38B_HUMAN pepdigest swissprot:TM38B_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:TM38B_HUMAN pepinfo swissprot:TM38B_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:TM38B_HUMAN pepnet swissprot:TM38B_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:TM38B_HUMAN pepstats swissprot:TM38B_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:TM38B_HUMAN pepwheel swissprot:TM38B_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:TM38B_HUMAN pepwindow swissprot:TM38B_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:TM38B_HUMAN sigcleave swissprot:TM38B_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:TM38B_HUMAN ## Database ID URL or Descriptions # AltName KCNV1_HUMAN Neuronal potassium channel alpha subunit HNKA # AltName KCNV1_HUMAN Voltage-gated potassium channel subunit Kv8.1 # BioGrid 117954 2 # DOMAIN KCNV1_HUMAN The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position. {ECO 0000250}. # Ensembl ENST00000297404 ENSP00000297404; ENSG00000164794 # Ensembl ENST00000524391 ENSP00000435954; ENSG00000164794 # FUNCTION KCNV1_HUMAN Potassium channel subunit that does not form functional channels by itself. Modulates KCNB1 and KCNB2 channel activity by shifting the threshold for inactivation to more negative values and by slowing the rate of inactivation. Can down-regulate the channel activity of KCNB1, KCNB2, KCNC4 and KCND1, possibly by trapping them in intracellular membranes. {ECO 0000269|PubMed 8670833, ECO 0000269|PubMed 9079713}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0008076 voltage-gated potassium channel complex; IEA:InterPro. # GO_function GO:0005251 delayed rectifier potassium channel activity; IBA:GO_Central. # GO_function GO:0008200 ion channel inhibitor activity; TAS:ProtInc. # GO_function GO:0015459 potassium channel regulator activity; TAS:ProtInc. # GO_process GO:0006813 potassium ion transport; TAS:ProtInc. # GO_process GO:0051260 protein homooligomerization; IEA:InterPro. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # Gene3D 1.20.120.350 -; 1. # Genevisible Q6PIU1 HS # HGNC HGNC:18861 KCNV1 # InterPro IPR000210 BTB/POZ_dom # InterPro IPR003131 T1-type_BTB # InterPro IPR003968 K_chnl_volt-dep_Kv # InterPro IPR003970 K_chnl_volt-dep_Kv8.1 # InterPro IPR005821 Ion_trans_dom # InterPro IPR011333 SKP1/BTB/POZ # InterPro IPR027359 Channel_four-helix_dom # InterPro IPR028325 VG_K_chnl # KEGG_Brite ko04040 Ion channels # MIM 608164 gene # Organism KCNV1_HUMAN Homo sapiens (Human) # PANTHER PTHR11537 PTHR11537; 2 # PANTHER PTHR11537:SF38 PTHR11537:SF38; 2 # PRINTS PR00169 KCHANNEL # PRINTS PR01491 KVCHANNEL # PRINTS PR01493 KV8CHANNEL # Pfam PF00520 Ion_trans # Pfam PF02214 BTB_2 # Proteomes UP000005640 Chromosome 8 # Reactome R-HSA-1296072 Voltage gated Potassium channels # RecName KCNV1_HUMAN Potassium voltage-gated channel subfamily V member 1 # RefSeq NP_055194 NM_014379.3 # SIMILARITY Belongs to the potassium channel family. V (TC 1.A.1.2) subfamily. Kv8.1/KCNV1 sub-subfamily. {ECO 0000305}. # SMART SM00225 BTB # SUBCELLULAR LOCATION KCNV1_HUMAN Cell membrane {ECO 0000269|PubMed 8670833, ECO 0000269|PubMed 9079713}; Multi-pass membrane protein {ECO 0000269|PubMed 8670833, ECO 0000269|PubMed 9079713}. Note=Has to be associated with another potassium channel subunit to get inserted in the plasma membrane. Remains intracellular in the absence of KCNB2. # SUBUNIT KCNV1_HUMAN Heteromultimer with KCNB1 and KCNB2. Interacts with KCNC4 and KCND1. {ECO 0000269|PubMed 8670833, ECO 0000269|PubMed 9079713}. # SUPFAM SSF54695 SSF54695 # TISSUE SPECIFICITY Detected in brain. {ECO:0000269|PubMed 12383276}. # UCSC uc003ynr human # eggNOG COG1226 LUCA # eggNOG KOG3713 Eukaryota BLAST swissprot:KCNV1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCNV1_HUMAN COXPRESdb 27012 http://coxpresdb.jp/data/gene/27012.shtml CleanEx HS_KCNV1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNV1 DOI 10.1046/j.1528-1157.43.s.9.7.x http://dx.doi.org/10.1046/j.1528-1157.43.s.9.7.x DOI 10.1074/jbc.272.13.8774 http://dx.doi.org/10.1074/jbc.272.13.8774 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AB032013 http://www.ebi.ac.uk/ena/data/view/AB032013 EMBL AF167082 http://www.ebi.ac.uk/ena/data/view/AF167082 EMBL BC028739 http://www.ebi.ac.uk/ena/data/view/BC028739 Ensembl ENST00000297404 http://www.ensembl.org/id/ENST00000297404 Ensembl ENST00000524391 http://www.ensembl.org/id/ENST00000524391 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0008076 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008076 GO_function GO:0005251 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005251 GO_function GO:0008200 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008200 GO_function GO:0015459 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015459 GO_process GO:0006813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006813 GO_process GO:0051260 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051260 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 Gene3D 1.20.120.350 http://www.cathdb.info/version/latest/superfamily/1.20.120.350 GeneCards KCNV1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNV1 GeneID 27012 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=27012 GeneTree ENSGT00760000118981 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118981 HGNC HGNC:18861 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:18861 HOGENOM HOG000231016 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231016&db=HOGENOM6 HOVERGEN HBG052230 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052230&db=HOVERGEN InParanoid Q6PIU1 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q6PIU1 IntAct Q6PIU1 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q6PIU1* InterPro IPR000210 http://www.ebi.ac.uk/interpro/entry/IPR000210 InterPro IPR003131 http://www.ebi.ac.uk/interpro/entry/IPR003131 InterPro IPR003968 http://www.ebi.ac.uk/interpro/entry/IPR003968 InterPro IPR003970 http://www.ebi.ac.uk/interpro/entry/IPR003970 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR011333 http://www.ebi.ac.uk/interpro/entry/IPR011333 InterPro IPR027359 http://www.ebi.ac.uk/interpro/entry/IPR027359 InterPro IPR028325 http://www.ebi.ac.uk/interpro/entry/IPR028325 Jabion 27012 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=27012 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:27012 http://www.genome.jp/dbget-bin/www_bget?hsa:27012 KEGG_Orthology KO:K04934 http://www.genome.jp/dbget-bin/www_bget?KO:K04934 MIM 608164 http://www.ncbi.nlm.nih.gov/omim/608164 OMA GMTIAQC http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=GMTIAQC OrthoDB EOG091G0FP3 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0FP3 PANTHER PTHR11537 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11537 PANTHER PTHR11537:SF38 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11537:SF38 PRINTS PR00169 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00169 PRINTS PR01491 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01491 PRINTS PR01493 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01493 PSORT swissprot:KCNV1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCNV1_HUMAN PSORT-B swissprot:KCNV1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCNV1_HUMAN PSORT2 swissprot:KCNV1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCNV1_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF02214 http://pfam.xfam.org/family/PF02214 PharmGKB PA38721 http://www.pharmgkb.org/do/serve?objId=PA38721&objCls=Gene Phobius swissprot:KCNV1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCNV1_HUMAN PhylomeDB Q6PIU1 http://phylomedb.org/?seqid=Q6PIU1 ProteinModelPortal Q6PIU1 http://www.proteinmodelportal.org/query/uniprot/Q6PIU1 PubMed 12383276 http://www.ncbi.nlm.nih.gov/pubmed/12383276 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 8670833 http://www.ncbi.nlm.nih.gov/pubmed/8670833 PubMed 9079713 http://www.ncbi.nlm.nih.gov/pubmed/9079713 Reactome R-HSA-1296072 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1296072 RefSeq NP_055194 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_055194 SMART SM00225 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00225 STRING 9606.ENSP00000297404 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000297404&targetmode=cogs SUPFAM SSF54695 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF54695 UCSC uc003ynr http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003ynr&org=rat UniGene Hs.13285 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.13285 UniProtKB KCNV1_HUMAN http://www.uniprot.org/uniprot/KCNV1_HUMAN UniProtKB-AC Q6PIU1 http://www.uniprot.org/uniprot/Q6PIU1 charge swissprot:KCNV1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCNV1_HUMAN eggNOG COG1226 http://eggnogapi.embl.de/nog_data/html/tree/COG1226 eggNOG KOG3713 http://eggnogapi.embl.de/nog_data/html/tree/KOG3713 epestfind swissprot:KCNV1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCNV1_HUMAN garnier swissprot:KCNV1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCNV1_HUMAN helixturnhelix swissprot:KCNV1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCNV1_HUMAN hmoment swissprot:KCNV1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCNV1_HUMAN iep swissprot:KCNV1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCNV1_HUMAN inforesidue swissprot:KCNV1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCNV1_HUMAN neXtProt NX_Q6PIU1 http://www.nextprot.org/db/entry/NX_Q6PIU1 octanol swissprot:KCNV1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCNV1_HUMAN pepcoil swissprot:KCNV1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCNV1_HUMAN pepdigest swissprot:KCNV1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCNV1_HUMAN pepinfo swissprot:KCNV1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCNV1_HUMAN pepnet swissprot:KCNV1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCNV1_HUMAN pepstats swissprot:KCNV1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCNV1_HUMAN pepwheel swissprot:KCNV1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCNV1_HUMAN pepwindow swissprot:KCNV1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCNV1_HUMAN sigcleave swissprot:KCNV1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCNV1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS MOT14_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q7RTX9-1; Sequence=Displayed; Name=2; IsoId=Q7RTX9-2; Sequence=VSP_025826; Note=No experimental confirmation available.; # AltName MOT14_HUMAN Solute carrier family 16 member 14 # BioGrid 127380 3 # CCDS CCDS2473 -. [Q7RTX9-1] # CDD cd06174 MFS # Ensembl ENST00000295190 ENSP00000295190; ENSG00000163053. [Q7RTX9-1] # ExpressionAtlas Q7RTX9 baseline and differential # FUNCTION MOT14_HUMAN Proton-linked monocarboxylate transporter. May catalyze the transport of monocarboxylates across the plasma membrane. {ECO 0000250}. # GO_component GO:0005886 plasma membrane; IEA:UniProtKB-SubCell. # GO_component GO:0016021 integral component of membrane; IBA:GO_Central. # GO_function GO:0008028 monocarboxylic acid transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015293 symporter activity; IEA:UniProtKB-KW. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # Genevisible Q7RTX9 HS # HGNC HGNC:26417 SLC16A14 # InterPro IPR011701 MFS # InterPro IPR020846 MFS_dom # KEGG_Brite ko02000 Transporters # KEGG_Brite ko02001 Solute carrier family # Organism MOT14_HUMAN Homo sapiens (Human) # PROSITE PS50850 MFS # Pfam PF07690 MFS_1 # Proteomes UP000005640 Chromosome 2 # RecName MOT14_HUMAN Monocarboxylate transporter 14 # RefSeq NP_689740 NM_152527.4. [Q7RTX9-1] # RefSeq XP_011509053 XM_011510751.2. [Q7RTX9-1] # RefSeq XP_016858969 XM_017003480.1. [Q7RTX9-1] # SIMILARITY Belongs to the major facilitator superfamily. Monocarboxylate porter (TC 2.A.1.13) family. {ECO 0000305}. # SUBCELLULAR LOCATION MOT14_HUMAN Cell membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. # SUPFAM SSF103473 SSF103473; 2 # TCDB 2.A.1.13.12 the major facilitator superfamily (mfs) # UCSC uc002vqd human. [Q7RTX9-1] # eggNOG ENOG411000Y LUCA # eggNOG KOG2504 Eukaryota BLAST swissprot:MOT14_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:MOT14_HUMAN COXPRESdb 151473 http://coxpresdb.jp/data/gene/151473.shtml CleanEx HS_SLC16A14 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC16A14 DOI 10.1007/s00424-003-1067-2 http://dx.doi.org/10.1007/s00424-003-1067-2 DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AC093171 http://www.ebi.ac.uk/ena/data/view/AC093171 EMBL AK055356 http://www.ebi.ac.uk/ena/data/view/AK055356 EMBL AK292873 http://www.ebi.ac.uk/ena/data/view/AK292873 EMBL BC065524 http://www.ebi.ac.uk/ena/data/view/BC065524 EMBL BN000146 http://www.ebi.ac.uk/ena/data/view/BN000146 EMBL CH471063 http://www.ebi.ac.uk/ena/data/view/CH471063 Ensembl ENST00000295190 http://www.ensembl.org/id/ENST00000295190 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0008028 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008028 GO_function GO:0015293 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015293 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GeneCards SLC16A14 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC16A14 GeneID 151473 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=151473 GeneTree ENSGT00760000118926 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118926 HGNC HGNC:26417 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:26417 HOGENOM HOG000013205 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000013205&db=HOGENOM6 HOVERGEN HBG094888 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG094888&db=HOVERGEN HPA HPA040518 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA040518 InParanoid Q7RTX9 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q7RTX9 InterPro IPR011701 http://www.ebi.ac.uk/interpro/entry/IPR011701 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 151473 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=151473 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:151473 http://www.genome.jp/dbget-bin/www_bget?hsa:151473 KEGG_Orthology KO:K08190 http://www.genome.jp/dbget-bin/www_bget?KO:K08190 OMA CGLLYMI http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=CGLLYMI OrthoDB EOG091G04XL http://cegg.unige.ch/orthodb/results?searchtext=EOG091G04XL PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PSORT swissprot:MOT14_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:MOT14_HUMAN PSORT-B swissprot:MOT14_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:MOT14_HUMAN PSORT2 swissprot:MOT14_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:MOT14_HUMAN Pfam PF07690 http://pfam.xfam.org/family/PF07690 PharmGKB PA134983567 http://www.pharmgkb.org/do/serve?objId=PA134983567&objCls=Gene Phobius swissprot:MOT14_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:MOT14_HUMAN PhylomeDB Q7RTX9 http://phylomedb.org/?seqid=Q7RTX9 ProteinModelPortal Q7RTX9 http://www.proteinmodelportal.org/query/uniprot/Q7RTX9 PubMed 12739169 http://www.ncbi.nlm.nih.gov/pubmed/12739169 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 RefSeq NP_689740 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_689740 RefSeq XP_011509053 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011509053 RefSeq XP_016858969 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016858969 STRING 9606.ENSP00000295190 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000295190&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.1.13.12 http://www.tcdb.org/search/result.php?tc=2.A.1.13.12 UCSC uc002vqd http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002vqd&org=rat UniGene Hs.504317 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.504317 UniProtKB MOT14_HUMAN http://www.uniprot.org/uniprot/MOT14_HUMAN UniProtKB-AC Q7RTX9 http://www.uniprot.org/uniprot/Q7RTX9 charge swissprot:MOT14_HUMAN http://rest.g-language.org/emboss/charge/swissprot:MOT14_HUMAN eggNOG ENOG411000Y http://eggnogapi.embl.de/nog_data/html/tree/ENOG411000Y eggNOG KOG2504 http://eggnogapi.embl.de/nog_data/html/tree/KOG2504 epestfind swissprot:MOT14_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:MOT14_HUMAN garnier swissprot:MOT14_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:MOT14_HUMAN helixturnhelix swissprot:MOT14_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:MOT14_HUMAN hmoment swissprot:MOT14_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:MOT14_HUMAN iep swissprot:MOT14_HUMAN http://rest.g-language.org/emboss/iep/swissprot:MOT14_HUMAN inforesidue swissprot:MOT14_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:MOT14_HUMAN neXtProt NX_Q7RTX9 http://www.nextprot.org/db/entry/NX_Q7RTX9 octanol swissprot:MOT14_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:MOT14_HUMAN pepcoil swissprot:MOT14_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:MOT14_HUMAN pepdigest swissprot:MOT14_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:MOT14_HUMAN pepinfo swissprot:MOT14_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:MOT14_HUMAN pepnet swissprot:MOT14_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:MOT14_HUMAN pepstats swissprot:MOT14_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:MOT14_HUMAN pepwheel swissprot:MOT14_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:MOT14_HUMAN pepwindow swissprot:MOT14_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:MOT14_HUMAN sigcleave swissprot:MOT14_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:MOT14_HUMAN ## Database ID URL or Descriptions # AltName LRC8A_HUMAN Leucine-rich repeat-containing protein 8A # AltName LRC8A_HUMAN Swelling protein 1 # BioGrid 121126 23 # ChiTaRS LRRC8A human # DISEASE LRC8A_HUMAN Agammaglobulinemia 5, autosomal dominant (AGM5) [MIM 613506] A primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life. {ECO 0000269|PubMed 14660746}. Note=The disease is caused by mutations affecting the gene represented in this entry. A chromosomal aberration involving LRRC8 has been found in a patient with congenital agammaglobulinemia. Translocation t(9;20)(q33.2;q12). The translocation truncates the LRRC8 gene, resulting in deletion of the eighth, ninth, and half of the seventh LRR domains. # Ensembl ENST00000259324 ENSP00000259324; ENSG00000136802 # Ensembl ENST00000372599 ENSP00000361680; ENSG00000136802 # Ensembl ENST00000372600 ENSP00000361682; ENSG00000136802 # ExpressionAtlas Q8IWT6 baseline and differential # FUNCTION LRC8A_HUMAN Essential component of the volume-regulated anion channel (VRAC, also named VSOAC channel), an anion channel required to maintain a constant cell volume in response to extracellular or intracellular osmotic changes. The VRAC channel conducts iodide better than chloride and may also conduct organic osmolytes like taurine (PubMed 24725410, PubMed 24790029, PubMed 26530471, PubMed 26824658). LRRC8A and LRRC8D are required for the uptake of the drug cisplatin (PubMed 26530471). Required for in vivo channel activity, together with at least one other family member (LRRC8B, LRRC8C, LRRC8D or LRRC8E); channel characteristics depend on the precise subunit composition (PubMed 24790029, PubMed 26824658). Can form functional channels by itself (in vitro) (PubMed 26824658). Involved in B-cell development required for the pro-B cell to pre-B cell transition (PubMed 14660746). Also required for T-cell development (By similarity). {ECO 0000250|UniProtKB Q80WG5, ECO 0000269|PubMed 14660746, ECO 0000269|PubMed 24725410, ECO 0000269|PubMed 24790029, ECO 0000269|PubMed 26530471, ECO 0000269|PubMed 26824658}. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0009986 cell surface; IDA:MGI. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0034702 ion channel complex; IDA:UniProtKB. # GO_function GO:0005225 volume-sensitive anion channel activity; IMP:UniProtKB. # GO_process GO:0002329 pre-B cell differentiation; ISS:UniProtKB. # GO_process GO:0006820 anion transport; IMP:UniProtKB. # GO_process GO:0006884 cell volume homeostasis; IMP:UniProtKB. # GO_process GO:0006970 response to osmotic stress; IMP:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0002376 immune system process # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0030154 cell differentiation # GOslim_process GO:0042592 homeostatic process # Gene3D 3.80.10.10 -; 2. # Genevisible Q8IWT6 HS # HGNC HGNC:19027 LRRC8A # IntAct Q8IWT6 4 # InterPro IPR001611 Leu-rich_rpt # InterPro IPR003591 Leu-rich_rpt_typical-subtyp # InterPro IPR021040 LRRC8_Pannexin-like # InterPro IPR032675 L_dom-like # KEGG_Disease H00085 [Primary immunodeficiency] Leucine-rich repeat-containing 8 # MIM 608360 gene # MIM 613506 phenotype # Organism LRC8A_HUMAN Homo sapiens (Human) # Orphanet 33110 Autosomal agammaglobulinemia # PROSITE PS51450 LRR; 11 # PTM LRC8A_HUMAN N-glycosylated. {ECO 0000269|PubMed 24790029}. # Pfam PF12534 Pannexin_like # Pfam PF13855 LRR_8; 3 # Proteomes UP000005640 Chromosome 9 # RecName LRC8A_HUMAN Volume-regulated anion channel subunit LRRC8A # RefSeq NP_001120716 NM_001127244.1 # RefSeq NP_001120717 NM_001127245.1 # RefSeq NP_062540 NM_019594.3 # RefSeq XP_005252152 XM_005252095.2 # RefSeq XP_005252153 XM_005252096.3 # RefSeq XP_006717249 XM_006717186.2 # RefSeq XP_011517165 XM_011518863.1 # RefSeq XP_011517166 XM_011518864.2 # RefSeq XP_011517167 XM_011518865.2 # SEQUENCE CAUTION Sequence=AAQ88653.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA92675.1; Type=Erroneous initiation; Evidence={ECO 0000305}; Sequence=BAC11161.1; Type=Erroneous initiation; Evidence={ECO:0000305}; # SIMILARITY Belongs to the LRRC8 family. {ECO 0000305}. # SIMILARITY Contains 17 LRR (leucine-rich) repeats. {ECO 0000305}. # SMART SM00369 LRR_TYP; 8 # SUBCELLULAR LOCATION LRC8A_HUMAN Cell membrane {ECO 0000269|PubMed 24725410, ECO 0000269|PubMed 24782309, ECO 0000269|PubMed 24790029, ECO 0000269|PubMed 26824658}; Multi-pass membrane protein {ECO 0000269|PubMed 24725410, ECO 0000269|PubMed 24782309, ECO 0000269|PubMed 24790029}. Note=The leucine-rich repeat (LRR) domain is on the cytoplasmic side of the cell membrane. {ECO 0000269|PubMed 24782309}. # SUBUNIT LRC8A_HUMAN Heterooligomer; heterooligomerizes with other LRRC8 proteins (LRRC8B, LRRC8C, LRRC8D and/or LRRC8E), possibly to form a heterohexamer (PubMed 24782309, PubMed 24790029, PubMed 26824658). In vivo, the subunit composition may depend primarily on expression levels, and heterooligomeric channels containing various proportions of the different LRRC8 proteins may coexist (Probable). {ECO 0000269|PubMed 24782309, ECO 0000269|PubMed 24790029, ECO 0000269|PubMed 26824658, ECO 0000305}. # SUPFAM SSF52058 SSF52058 # TCDB 1.A.25.3 the gap junction-forming innexin (innexin) family # TISSUE SPECIFICITY LRC8A_HUMAN Expressed in brain, kidney, ovary, lung, liver, heart, and fetal brain and liver. Found at high levels in bone marrow; lower levels are detected in peripheral blood cells. Expressed on T-cells as well as on B-lineage cells. {ECO 0000269|PubMed 10718198, ECO 0000269|PubMed 14660746}. # UCSC uc004bwl human # WEB RESOURCE LRC8A_HUMAN Name=LRRC8Abase; Note=LRRC8A mutation db; URL="http //structure.bmc.lu.se/idbase/LRRC8Abase/"; # eggNOG COG4886 LUCA # eggNOG KOG0619 Eukaryota BLAST swissprot:LRC8A_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:LRC8A_HUMAN COXPRESdb 56262 http://coxpresdb.jp/data/gene/56262.shtml CleanEx HS_LRRC8A http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_LRRC8A DIP DIP-61360N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-61360N DOI 10.1002/bies.201100173 http://dx.doi.org/10.1002/bies.201100173 DOI 10.1016/j.cell.2006.09.026 http://dx.doi.org/10.1016/j.cell.2006.09.026 DOI 10.1016/j.cell.2014.03.024 http://dx.doi.org/10.1016/j.cell.2014.03.024 DOI 10.1016/j.cell.2015.12.031 http://dx.doi.org/10.1016/j.cell.2015.12.031 DOI 10.1016/j.molimm.2004.04.001 http://dx.doi.org/10.1016/j.molimm.2004.04.001 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature02465 http://dx.doi.org/10.1038/nature02465 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.1210303109 http://dx.doi.org/10.1073/pnas.1210303109 DOI 10.1074/jbc.M114.571257 http://dx.doi.org/10.1074/jbc.M114.571257 DOI 10.1093/dnares/7.1.65 http://dx.doi.org/10.1093/dnares/7.1.65 DOI 10.1101/gr.1293003 http://dx.doi.org/10.1101/gr.1293003 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1252826 http://dx.doi.org/10.1126/science.1252826 DOI 10.1126/scisignal.2001570 http://dx.doi.org/10.1126/scisignal.2001570 DOI 10.1172/JCI18937 http://dx.doi.org/10.1172/JCI18937 DOI 10.15252/embj.201592409 http://dx.doi.org/10.15252/embj.201592409 EMBL AB037858 http://www.ebi.ac.uk/ena/data/view/AB037858 EMBL AK074723 http://www.ebi.ac.uk/ena/data/view/AK074723 EMBL AL672142 http://www.ebi.ac.uk/ena/data/view/AL672142 EMBL AY143166 http://www.ebi.ac.uk/ena/data/view/AY143166 EMBL AY358286 http://www.ebi.ac.uk/ena/data/view/AY358286 EMBL BC051322 http://www.ebi.ac.uk/ena/data/view/BC051322 Ensembl ENST00000259324 http://www.ensembl.org/id/ENST00000259324 Ensembl ENST00000372599 http://www.ensembl.org/id/ENST00000372599 Ensembl ENST00000372600 http://www.ensembl.org/id/ENST00000372600 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0009986 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009986 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0034702 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034702 GO_function GO:0005225 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005225 GO_process GO:0002329 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002329 GO_process GO:0006820 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006820 GO_process GO:0006884 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006884 GO_process GO:0006970 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006970 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0002376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002376 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0030154 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030154 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 Gene3D 3.80.10.10 http://www.cathdb.info/version/latest/superfamily/3.80.10.10 GeneCards LRRC8A http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=LRRC8A GeneID 56262 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=56262 GeneTree ENSGT00840000129676 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00840000129676 HGNC HGNC:19027 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:19027 HOGENOM HOG000231806 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231806&db=HOGENOM6 HOVERGEN HBG052360 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052360&db=HOVERGEN HPA HPA016811 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA016811 InParanoid Q8IWT6 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8IWT6 IntAct Q8IWT6 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q8IWT6* InterPro IPR001611 http://www.ebi.ac.uk/interpro/entry/IPR001611 InterPro IPR003591 http://www.ebi.ac.uk/interpro/entry/IPR003591 InterPro IPR021040 http://www.ebi.ac.uk/interpro/entry/IPR021040 InterPro IPR032675 http://www.ebi.ac.uk/interpro/entry/IPR032675 Jabion 56262 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=56262 KEGG_Disease H00085 http://www.genome.jp/dbget-bin/www_bget?H00085 KEGG_Gene hsa:56262 http://www.genome.jp/dbget-bin/www_bget?hsa:56262 MIM 608360 http://www.ncbi.nlm.nih.gov/omim/608360 MIM 613506 http://www.ncbi.nlm.nih.gov/omim/613506 OMA HIAYIPM http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=HIAYIPM Orphanet 33110 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=33110 OrthoDB EOG091G01ER http://cegg.unige.ch/orthodb/results?searchtext=EOG091G01ER PROSITE PS51450 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51450 PSORT swissprot:LRC8A_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:LRC8A_HUMAN PSORT-B swissprot:LRC8A_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:LRC8A_HUMAN PSORT2 swissprot:LRC8A_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:LRC8A_HUMAN Pfam PF12534 http://pfam.xfam.org/family/PF12534 Pfam PF13855 http://pfam.xfam.org/family/PF13855 PharmGKB PA134909315 http://www.pharmgkb.org/do/serve?objId=PA134909315&objCls=Gene Phobius swissprot:LRC8A_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:LRC8A_HUMAN PhylomeDB Q8IWT6 http://phylomedb.org/?seqid=Q8IWT6 ProteinModelPortal Q8IWT6 http://www.proteinmodelportal.org/query/uniprot/Q8IWT6 PubMed 10718198 http://www.ncbi.nlm.nih.gov/pubmed/10718198 PubMed 12975309 http://www.ncbi.nlm.nih.gov/pubmed/12975309 PubMed 14660746 http://www.ncbi.nlm.nih.gov/pubmed/14660746 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15164053 http://www.ncbi.nlm.nih.gov/pubmed/15164053 PubMed 15183935 http://www.ncbi.nlm.nih.gov/pubmed/15183935 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 17081983 http://www.ncbi.nlm.nih.gov/pubmed/17081983 PubMed 21406692 http://www.ncbi.nlm.nih.gov/pubmed/21406692 PubMed 22532330 http://www.ncbi.nlm.nih.gov/pubmed/22532330 PubMed 22814378 http://www.ncbi.nlm.nih.gov/pubmed/22814378 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 24725410 http://www.ncbi.nlm.nih.gov/pubmed/24725410 PubMed 24782309 http://www.ncbi.nlm.nih.gov/pubmed/24782309 PubMed 24790029 http://www.ncbi.nlm.nih.gov/pubmed/24790029 PubMed 26530471 http://www.ncbi.nlm.nih.gov/pubmed/26530471 PubMed 26824658 http://www.ncbi.nlm.nih.gov/pubmed/26824658 RefSeq NP_001120716 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001120716 RefSeq NP_001120717 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001120717 RefSeq NP_062540 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_062540 RefSeq XP_005252152 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005252152 RefSeq XP_005252153 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005252153 RefSeq XP_006717249 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006717249 RefSeq XP_011517165 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011517165 RefSeq XP_011517166 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011517166 RefSeq XP_011517167 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011517167 SMART SM00369 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00369 STRING 9606.ENSP00000259324 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000259324&targetmode=cogs SUPFAM SSF52058 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52058 TCDB 1.A.25.3 http://www.tcdb.org/search/result.php?tc=1.A.25.3 UCSC uc004bwl http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc004bwl&org=rat UniGene Hs.643600 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.643600 UniProtKB LRC8A_HUMAN http://www.uniprot.org/uniprot/LRC8A_HUMAN UniProtKB-AC Q8IWT6 http://www.uniprot.org/uniprot/Q8IWT6 charge swissprot:LRC8A_HUMAN http://rest.g-language.org/emboss/charge/swissprot:LRC8A_HUMAN eggNOG COG4886 http://eggnogapi.embl.de/nog_data/html/tree/COG4886 eggNOG KOG0619 http://eggnogapi.embl.de/nog_data/html/tree/KOG0619 epestfind swissprot:LRC8A_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:LRC8A_HUMAN garnier swissprot:LRC8A_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:LRC8A_HUMAN helixturnhelix swissprot:LRC8A_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:LRC8A_HUMAN hmoment swissprot:LRC8A_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:LRC8A_HUMAN iep swissprot:LRC8A_HUMAN http://rest.g-language.org/emboss/iep/swissprot:LRC8A_HUMAN inforesidue swissprot:LRC8A_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:LRC8A_HUMAN neXtProt NX_Q8IWT6 http://www.nextprot.org/db/entry/NX_Q8IWT6 octanol swissprot:LRC8A_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:LRC8A_HUMAN pepcoil swissprot:LRC8A_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:LRC8A_HUMAN pepdigest swissprot:LRC8A_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:LRC8A_HUMAN pepinfo swissprot:LRC8A_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:LRC8A_HUMAN pepnet swissprot:LRC8A_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:LRC8A_HUMAN pepstats swissprot:LRC8A_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:LRC8A_HUMAN pepwheel swissprot:LRC8A_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:LRC8A_HUMAN pepwindow swissprot:LRC8A_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:LRC8A_HUMAN sigcleave swissprot:LRC8A_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:LRC8A_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S19A2_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O60779-1; Sequence=Displayed; Name=2; IsoId=O60779-2; Sequence=VSP_036467; # AltName S19A2_HUMAN Solute carrier family 19 member 2 # AltName S19A2_HUMAN Thiamine carrier 1 # BioGrid 115811 30 # CCDS CCDS1280 -. [O60779-1] # CCDS CCDS81398 -. [O60779-2] # ChiTaRS SLC19A2 human # DISEASE S19A2_HUMAN Thiamine-responsive megaloblastic anemia syndrome (TRMA) [MIM 249270] An autosomal recessive disease characterized by megaloblastic anemia, diabetes mellitus, and sensorineural deafness. Onset is typically between infancy and adolescence, but all of the cardinal findings are often not present initially. The anemia, and sometimes the diabetes, improves with high doses of thiamine. Other more variable features include optic atrophy, congenital heart defects, short stature, and stroke. {ECO 0000269|PubMed 10391221, ECO 0000269|PubMed 10874303}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DrugBank DB00152 Thiamine # Ensembl ENST00000236137 ENSP00000236137; ENSG00000117479. [O60779-1] # Ensembl ENST00000367804 ENSP00000356778; ENSG00000117479. [O60779-2] # ExpressionAtlas O60779 baseline and differential # FUNCTION S19A2_HUMAN High-affinity transporter for the intake of thiamine. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0016021 integral component of membrane; NAS:UniProtKB. # GO_function GO:0008517 folic acid transporter activity; NAS:UniProtKB. # GO_function GO:0015234 thiamine transmembrane transporter activity; TAS:UniProtKB. # GO_function GO:0015403 thiamine uptake transmembrane transporter activity; IDA:UniProtKB. # GO_process GO:0015888 thiamine transport; NAS:UniProtKB. # GO_process GO:0042723 thiamine-containing compound metabolic process; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006790 sulfur compound metabolic process # GOslim_process GO:0006810 transport # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0044281 small molecule metabolic process # Genevisible O60779 HS # HGNC HGNC:10938 SLC19A2 # InterPro IPR002666 Folate_carrier # InterPro IPR020846 MFS_dom # InterPro IPR028338 ThTr-1 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02001 Solute carrier family # KEGG_Disease H01183 [Inherited metabolic disease] Thiamine-responsive megaloblastic anemia (TRMA) # KEGG_Disease H01565 [Metabolic disorders; Nervous system disease] Wernicke-Korsakoff syndrome # KEGG_Pathway ko04977 Vitamin digestion and absorption # MIM 249270 phenotype # MIM 603941 gene # Organism S19A2_HUMAN Homo sapiens (Human) # Orphanet 49827 Thiamine-responsive megaloblastic anemia syndrome # PANTHER PTHR10686 PTHR10686 # PIRSF PIRSF028739 Folate_carrier # PIRSF PIRSF500794 Thiamine_transporter_1 # Pfam PF01770 Folate_carrier # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-196819 Vitamin B1 (thiamin) metabolism # RecName S19A2_HUMAN Thiamine transporter 1 # RefSeq NP_001306596 NM_001319667.1. [O60779-2] # RefSeq NP_008927 NM_006996.2. [O60779-1] # SEQUENCE CAUTION Sequence=BAG64936.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the reduced folate carrier (RFC) transporter (TC 2.A.48) family. {ECO 0000305}. # SUBCELLULAR LOCATION S19A2_HUMAN Membrane; Multi-pass membrane protein. # SUPFAM SSF103473 SSF103473; 2 # TCDB 2.A.48.1 the reduced folate carrier (rfc) family # TISSUE SPECIFICITY S19A2_HUMAN Ubiquitous; most abundant in skeletal and cardiac muscle. Medium expression in placenta, heart, liver and kidney, low in lung. # UCSC uc001gge human. [O60779-1] # eggNOG ENOG410XT34 LUCA # eggNOG KOG3810 Eukaryota BLAST swissprot:S19A2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S19A2_HUMAN BioCyc ZFISH:ENSG00000117479-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000117479-MONOMER COXPRESdb 10560 http://coxpresdb.jp/data/gene/10560.shtml CleanEx HS_SLC19A2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC19A2 DOI 10.1002/1098-1004(200007)16:1<37::AID-HUMU7>3.0.CO http://dx.doi.org/10.1002/1098-1004(200007)16:1<37::AID-HUMU7>3.0.CO DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/10372 http://dx.doi.org/10.1038/10372 DOI 10.1038/10379 http://dx.doi.org/10.1038/10379 DOI 10.1038/10385 http://dx.doi.org/10.1038/10385 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.1210303109 http://dx.doi.org/10.1073/pnas.1210303109 DOI 10.1074/jbc.274.45.31925 http://dx.doi.org/10.1074/jbc.274.45.31925 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DrugBank DB00152 http://www.drugbank.ca/drugs/DB00152 EMBL AF135488 http://www.ebi.ac.uk/ena/data/view/AF135488 EMBL AF153330 http://www.ebi.ac.uk/ena/data/view/AF153330 EMBL AF158233 http://www.ebi.ac.uk/ena/data/view/AF158233 EMBL AF160186 http://www.ebi.ac.uk/ena/data/view/AF160186 EMBL AF160756 http://www.ebi.ac.uk/ena/data/view/AF160756 EMBL AF160812 http://www.ebi.ac.uk/ena/data/view/AF160812 EMBL AF272359 http://www.ebi.ac.uk/ena/data/view/AF272359 EMBL AJ237724 http://www.ebi.ac.uk/ena/data/view/AJ237724 EMBL AJ238413 http://www.ebi.ac.uk/ena/data/view/AJ238413 EMBL AK304021 http://www.ebi.ac.uk/ena/data/view/AK304021 EMBL AK313779 http://www.ebi.ac.uk/ena/data/view/AK313779 EMBL AK316465 http://www.ebi.ac.uk/ena/data/view/AK316465 EMBL AL021068 http://www.ebi.ac.uk/ena/data/view/AL021068 EMBL AL021068 http://www.ebi.ac.uk/ena/data/view/AL021068 EMBL BC018514 http://www.ebi.ac.uk/ena/data/view/BC018514 EMBL CH471067 http://www.ebi.ac.uk/ena/data/view/CH471067 EMBL CH471067 http://www.ebi.ac.uk/ena/data/view/CH471067 Ensembl ENST00000236137 http://www.ensembl.org/id/ENST00000236137 Ensembl ENST00000367804 http://www.ensembl.org/id/ENST00000367804 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0008517 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008517 GO_function GO:0015234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015234 GO_function GO:0015403 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015403 GO_process GO:0015888 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015888 GO_process GO:0042723 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042723 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006790 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006790 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GeneCards SLC19A2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC19A2 GeneID 10560 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=10560 GeneTree ENSGT00510000046382 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00510000046382 HGNC HGNC:10938 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10938 HOVERGEN HBG054198 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG054198&db=HOVERGEN HPA HPA006119 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA006119 HPA HPA016599 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA016599 InParanoid O60779 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O60779 IntAct O60779 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O60779* InterPro IPR002666 http://www.ebi.ac.uk/interpro/entry/IPR002666 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 InterPro IPR028338 http://www.ebi.ac.uk/interpro/entry/IPR028338 Jabion 10560 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=10560 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Disease H01183 http://www.genome.jp/dbget-bin/www_bget?H01183 KEGG_Disease H01565 http://www.genome.jp/dbget-bin/www_bget?H01565 KEGG_Gene hsa:10560 http://www.genome.jp/dbget-bin/www_bget?hsa:10560 KEGG_Orthology KO:K14610 http://www.genome.jp/dbget-bin/www_bget?KO:K14610 KEGG_Pathway ko04977 http://www.genome.jp/kegg-bin/show_pathway?ko04977 MIM 249270 http://www.ncbi.nlm.nih.gov/omim/249270 MIM 603941 http://www.ncbi.nlm.nih.gov/omim/603941 OMA VCYSSRP http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=VCYSSRP Orphanet 49827 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=49827 OrthoDB EOG091G0BSJ http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0BSJ PANTHER PTHR10686 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10686 PSORT swissprot:S19A2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S19A2_HUMAN PSORT-B swissprot:S19A2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S19A2_HUMAN PSORT2 swissprot:S19A2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S19A2_HUMAN Pfam PF01770 http://pfam.xfam.org/family/PF01770 PharmGKB PA35825 http://www.pharmgkb.org/do/serve?objId=PA35825&objCls=Gene Phobius swissprot:S19A2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S19A2_HUMAN PhylomeDB O60779 http://phylomedb.org/?seqid=O60779 ProteinModelPortal O60779 http://www.proteinmodelportal.org/query/uniprot/O60779 PubMed 10391221 http://www.ncbi.nlm.nih.gov/pubmed/10391221 PubMed 10391222 http://www.ncbi.nlm.nih.gov/pubmed/10391222 PubMed 10391223 http://www.ncbi.nlm.nih.gov/pubmed/10391223 PubMed 10542220 http://www.ncbi.nlm.nih.gov/pubmed/10542220 PubMed 10874303 http://www.ncbi.nlm.nih.gov/pubmed/10874303 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 22814378 http://www.ncbi.nlm.nih.gov/pubmed/22814378 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 Reactome R-HSA-196819 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-196819 RefSeq NP_001306596 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001306596 RefSeq NP_008927 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_008927 STRING 9606.ENSP00000236137 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000236137&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.48.1 http://www.tcdb.org/search/result.php?tc=2.A.48.1 UCSC uc001gge http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001gge&org=rat UniGene Hs.30246 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.30246 UniProtKB S19A2_HUMAN http://www.uniprot.org/uniprot/S19A2_HUMAN UniProtKB-AC O60779 http://www.uniprot.org/uniprot/O60779 charge swissprot:S19A2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S19A2_HUMAN eggNOG ENOG410XT34 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XT34 eggNOG KOG3810 http://eggnogapi.embl.de/nog_data/html/tree/KOG3810 epestfind swissprot:S19A2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S19A2_HUMAN garnier swissprot:S19A2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S19A2_HUMAN helixturnhelix swissprot:S19A2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S19A2_HUMAN hmoment swissprot:S19A2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S19A2_HUMAN iep swissprot:S19A2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S19A2_HUMAN inforesidue swissprot:S19A2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S19A2_HUMAN neXtProt NX_O60779 http://www.nextprot.org/db/entry/NX_O60779 octanol swissprot:S19A2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S19A2_HUMAN pepcoil swissprot:S19A2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S19A2_HUMAN pepdigest swissprot:S19A2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S19A2_HUMAN pepinfo swissprot:S19A2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S19A2_HUMAN pepnet swissprot:S19A2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S19A2_HUMAN pepstats swissprot:S19A2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S19A2_HUMAN pepwheel swissprot:S19A2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S19A2_HUMAN pepwindow swissprot:S19A2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S19A2_HUMAN sigcleave swissprot:S19A2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S19A2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS TTYH1_HUMAN Event=Alternative splicing; Named isoforms=5; Name=1; IsoId=Q9H313-1; Sequence=Displayed; Name=2; IsoId=Q9H313-2; Sequence=VSP_029760; Name=3; Synonyms=TTYH1s; IsoId=Q9H313-3; Sequence=VSP_029759; Name=4; IsoId=Q9H313-4; Sequence=VSP_029753, VSP_029757, VSP_029760; Note=No experimental confirmation available.; Name=5; IsoId=Q9H313-5; Sequence=VSP_029754, VSP_029755, VSP_029756, VSP_029758; Note=No experimental confirmation available.; # CCDS CCDS12893 -. [Q9H313-1] # CCDS CCDS33106 -. [Q9H313-3] # CCDS CCDS56102 -. [Q9H313-2] # CDD cd07912 Tweety_N # ChiTaRS TTYH1 human # Ensembl ENST00000301194 ENSP00000301194; ENSG00000167614. [Q9H313-2] # Ensembl ENST00000376530 ENSP00000365713; ENSG00000167614. [Q9H313-1] # Ensembl ENST00000376531 ENSP00000365714; ENSG00000167614. [Q9H313-3] # Ensembl ENST00000611133 ENSP00000480177; ENSG00000276887. [Q9H313-2] # Ensembl ENST00000611471 ENSP00000484881; ENSG00000275650. [Q9H313-3] # Ensembl ENST00000611711 ENSP00000484774; ENSG00000276887. [Q9H313-1] # Ensembl ENST00000614387 ENSP00000484077; ENSG00000276887. [Q9H313-4] # Ensembl ENST00000614458 ENSP00000484835; ENSG00000276887. [Q9H313-3] # Ensembl ENST00000616929 ENSP00000479779; ENSG00000276537. [Q9H313-2] # Ensembl ENST00000619450 ENSP00000480769; ENSG00000275650. [Q9H313-1] # Ensembl ENST00000619453 ENSP00000484548; ENSG00000276537. [Q9H313-3] # Ensembl ENST00000619591 ENSP00000481601; ENSG00000275650. [Q9H313-2] # Ensembl ENST00000620133 ENSP00000483288; ENSG00000276887. [Q9H313-5] # Ensembl ENST00000620298 ENSP00000481138; ENSG00000276537. [Q9H313-1] # Ensembl ENST00000622771 ENSP00000482372; ENSG00000276537. [Q9H313-4] # ExpressionAtlas Q9H313 baseline and differential # FUNCTION TTYH1_HUMAN Isoform 3 may be a Ca(2+)-independent and swelling- activated chloride channel, possibly involved in regulation of cell volume. # FUNCTION TTYH1_HUMAN Probable chloride channel. May be involved in cell adhesion (By similarity). {ECO 0000250}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0016021 integral component of membrane; TAS:UniProtKB. # GO_component GO:0030868 smooth endoplasmic reticulum membrane; IEA:Ensembl. # GO_component GO:0031527 filopodium membrane; IEA:Ensembl. # GO_component GO:0032433 filopodium tip; IEA:Ensembl. # GO_component GO:0034707 chloride channel complex; IEA:UniProtKB-KW. # GO_function GO:0005254 chloride channel activity; TAS:Reactome. # GO_function GO:0005381 iron ion transmembrane transporter activity; NAS:UniProtKB. # GO_function GO:0005509 calcium ion binding; IEA:Ensembl. # GO_function GO:0072320 volume-sensitive chloride channel activity; IDA:FlyBase. # GO_process GO:0006821 chloride transport; IDA:FlyBase. # GO_process GO:0006826 iron ion transport; NAS:UniProtKB. # GO_process GO:0007067 mitotic nuclear division; IEA:Ensembl. # GO_process GO:0016337 single organismal cell-cell adhesion; IEA:Ensembl. # GO_process GO:0031589 cell-substrate adhesion; IEA:Ensembl. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0046847 filopodium assembly; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0007067 mitotic nuclear division # GOslim_process GO:0007155 cell adhesion # GOslim_process GO:0022607 cellular component assembly # GOslim_process GO:0055085 transmembrane transport # Genevisible Q9H313 HS # HGNC HGNC:13476 TTYH1 # InterPro IPR006990 Tweety # MIM 605784 gene # Organism TTYH1_HUMAN Homo sapiens (Human) # PANTHER PTHR12424 PTHR12424 # Pfam PF04906 Tweety # Proteomes UP000005640 Chromosome 19 # Reactome R-HSA-2672351 Stimuli-sensing channels # RecName TTYH1_HUMAN Protein tweety homolog 1 # RefSeq NP_001005367 NM_001005367.2. [Q9H313-3] # RefSeq NP_001188390 NM_001201461.1. [Q9H313-2] # RefSeq NP_065710 NM_020659.3. [Q9H313-1] # SIMILARITY Belongs to the tweety family. {ECO 0000305}. # SUBCELLULAR LOCATION TTYH1_HUMAN Cell membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. # TCDB 1.A.48.1 the anion channel tweety (tweety) family # TISSUE SPECIFICITY Expressed in brain, eye, ovary and testis, and at lower levels in muscle, placenta, liver and lung. {ECO:0000269|PubMed 17116230}. # UCSC uc002qfq human. [Q9H313-1] # eggNOG ENOG410ZNTN LUCA # eggNOG KOG4433 Eukaryota BLAST swissprot:TTYH1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:TTYH1_HUMAN BioCyc ZFISH:ENSG00000167614-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000167614-MONOMER COXPRESdb 57348 http://coxpresdb.jp/data/gene/57348.shtml DOI 10.1006/geno.2000.6259 http://dx.doi.org/10.1006/geno.2000.6259 DOI 10.1038/nature02399 http://dx.doi.org/10.1038/nature02399 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.M313813200 http://dx.doi.org/10.1074/jbc.M313813200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1471-4159.2006.04237.x http://dx.doi.org/10.1111/j.1471-4159.2006.04237.x EMBL AB162930 http://www.ebi.ac.uk/ena/data/view/AB162930 EMBL AB188496 http://www.ebi.ac.uk/ena/data/view/AB188496 EMBL AF177909 http://www.ebi.ac.uk/ena/data/view/AF177909 EMBL AK126690 http://www.ebi.ac.uk/ena/data/view/AK126690 EMBL AK289468 http://www.ebi.ac.uk/ena/data/view/AK289468 EMBL BC011347 http://www.ebi.ac.uk/ena/data/view/BC011347 EMBL BC019358 http://www.ebi.ac.uk/ena/data/view/BC019358 EMBL CH471135 http://www.ebi.ac.uk/ena/data/view/CH471135 EMBL CH471135 http://www.ebi.ac.uk/ena/data/view/CH471135 EMBL CU207370 http://www.ebi.ac.uk/ena/data/view/CU207370 EMBL CU207370 http://www.ebi.ac.uk/ena/data/view/CU207370 EMBL CU207370 http://www.ebi.ac.uk/ena/data/view/CU207370 EMBL CU207370 http://www.ebi.ac.uk/ena/data/view/CU207370 EMBL CU467002 http://www.ebi.ac.uk/ena/data/view/CU467002 EMBL CU467002 http://www.ebi.ac.uk/ena/data/view/CU467002 EMBL CU467002 http://www.ebi.ac.uk/ena/data/view/CU467002 Ensembl ENST00000301194 http://www.ensembl.org/id/ENST00000301194 Ensembl ENST00000376530 http://www.ensembl.org/id/ENST00000376530 Ensembl ENST00000376531 http://www.ensembl.org/id/ENST00000376531 Ensembl ENST00000611133 http://www.ensembl.org/id/ENST00000611133 Ensembl ENST00000611471 http://www.ensembl.org/id/ENST00000611471 Ensembl ENST00000611711 http://www.ensembl.org/id/ENST00000611711 Ensembl ENST00000614387 http://www.ensembl.org/id/ENST00000614387 Ensembl ENST00000614458 http://www.ensembl.org/id/ENST00000614458 Ensembl ENST00000616929 http://www.ensembl.org/id/ENST00000616929 Ensembl ENST00000619450 http://www.ensembl.org/id/ENST00000619450 Ensembl ENST00000619453 http://www.ensembl.org/id/ENST00000619453 Ensembl ENST00000619591 http://www.ensembl.org/id/ENST00000619591 Ensembl ENST00000620133 http://www.ensembl.org/id/ENST00000620133 Ensembl ENST00000620298 http://www.ensembl.org/id/ENST00000620298 Ensembl ENST00000622771 http://www.ensembl.org/id/ENST00000622771 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0030868 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030868 GO_component GO:0031527 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031527 GO_component GO:0032433 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032433 GO_component GO:0034707 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034707 GO_function GO:0005254 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005254 GO_function GO:0005381 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005381 GO_function GO:0005509 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005509 GO_function GO:0072320 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0072320 GO_process GO:0006821 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006821 GO_process GO:0006826 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006826 GO_process GO:0007067 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007067 GO_process GO:0016337 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016337 GO_process GO:0031589 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031589 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0046847 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046847 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007067 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007067 GOslim_process GO:0007155 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007155 GOslim_process GO:0022607 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022607 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards TTYH1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=TTYH1 GeneID 57348 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=57348 GeneTree ENSGT00390000010182 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000010182 HGNC HGNC:13476 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:13476 HOVERGEN HBG108621 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG108621&db=HOVERGEN HPA HPA023617 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA023617 HPA HPA050655 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA050655 InParanoid Q9H313 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9H313 InterPro IPR006990 http://www.ebi.ac.uk/interpro/entry/IPR006990 Jabion 57348 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=57348 KEGG_Gene hsa:57348 http://www.genome.jp/dbget-bin/www_bget?hsa:57348 MIM 605784 http://www.ncbi.nlm.nih.gov/omim/605784 OMA WISAHTW http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=WISAHTW OrthoDB EOG091G05MR http://cegg.unige.ch/orthodb/results?searchtext=EOG091G05MR PANTHER PTHR12424 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12424 PSORT swissprot:TTYH1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:TTYH1_HUMAN PSORT-B swissprot:TTYH1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:TTYH1_HUMAN PSORT2 swissprot:TTYH1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:TTYH1_HUMAN Pfam PF04906 http://pfam.xfam.org/family/PF04906 PharmGKB PA37778 http://www.pharmgkb.org/do/serve?objId=PA37778&objCls=Gene Phobius swissprot:TTYH1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:TTYH1_HUMAN PhylomeDB Q9H313 http://phylomedb.org/?seqid=Q9H313 ProteinModelPortal Q9H313 http://www.proteinmodelportal.org/query/uniprot/Q9H313 PubMed 10950931 http://www.ncbi.nlm.nih.gov/pubmed/10950931 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15010458 http://www.ncbi.nlm.nih.gov/pubmed/15010458 PubMed 15057824 http://www.ncbi.nlm.nih.gov/pubmed/15057824 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 17116230 http://www.ncbi.nlm.nih.gov/pubmed/17116230 Reactome R-HSA-2672351 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2672351 RefSeq NP_001005367 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001005367 RefSeq NP_001188390 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001188390 RefSeq NP_065710 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_065710 STRING 9606.ENSP00000365714 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000365714&targetmode=cogs TCDB 1.A.48.1 http://www.tcdb.org/search/result.php?tc=1.A.48.1 UCSC uc002qfq http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002qfq&org=rat UniGene Hs.268728 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.268728 UniProtKB TTYH1_HUMAN http://www.uniprot.org/uniprot/TTYH1_HUMAN UniProtKB-AC Q9H313 http://www.uniprot.org/uniprot/Q9H313 charge swissprot:TTYH1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:TTYH1_HUMAN eggNOG ENOG410ZNTN http://eggnogapi.embl.de/nog_data/html/tree/ENOG410ZNTN eggNOG KOG4433 http://eggnogapi.embl.de/nog_data/html/tree/KOG4433 epestfind swissprot:TTYH1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:TTYH1_HUMAN garnier swissprot:TTYH1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:TTYH1_HUMAN helixturnhelix swissprot:TTYH1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:TTYH1_HUMAN hmoment swissprot:TTYH1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:TTYH1_HUMAN iep swissprot:TTYH1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:TTYH1_HUMAN inforesidue swissprot:TTYH1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:TTYH1_HUMAN neXtProt NX_Q9H313 http://www.nextprot.org/db/entry/NX_Q9H313 octanol swissprot:TTYH1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:TTYH1_HUMAN pepcoil swissprot:TTYH1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:TTYH1_HUMAN pepdigest swissprot:TTYH1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:TTYH1_HUMAN pepinfo swissprot:TTYH1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:TTYH1_HUMAN pepnet swissprot:TTYH1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:TTYH1_HUMAN pepstats swissprot:TTYH1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:TTYH1_HUMAN pepwheel swissprot:TTYH1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:TTYH1_HUMAN pepwindow swissprot:TTYH1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:TTYH1_HUMAN sigcleave swissprot:TTYH1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:TTYH1_HUMAN ## Database ID URL or Descriptions # AltName CX6A2_HUMAN Cytochrome c oxidase polypeptide VIa-heart # AltName CX6A2_HUMAN Cytochrome c oxidase subunit VIA-muscle # BioGrid 107732 5 # CDD cd00925 Cyt_c_Oxidase_VIa # ChiTaRS COX6A2 human # DrugBank DB02659 Cholic Acid # Ensembl ENST00000287490 ENSP00000287490; ENSG00000156885 # FUNCTION CX6A2_HUMAN This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport. # GO_component GO:0005751 mitochondrial respiratory chain complex IV; IBA:GO_Central. # GO_function GO:0004129 cytochrome-c oxidase activity; IEA:InterPro. # GO_function GO:0030234 enzyme regulator activity; IBA:GO_Central. # GO_process GO:0006091 generation of precursor metabolites and energy; TAS:ProtInc. # GO_process GO:0006123 mitochondrial electron transport, cytochrome c to oxygen; IBA:GO_Central. # GO_process GO:0009060 aerobic respiration; IBA:GO_Central. # GOslim_component GO:0043234 protein complex # GOslim_function GO:0016491 oxidoreductase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0030234 enzyme regulator activity # GOslim_process GO:0006091 generation of precursor metabolites and energy # Gene3D 4.10.95.10 -; 1. # Genevisible Q02221 HS # HGNC HGNC:2279 COX6A2 # IntAct Q02221 10 # InterPro IPR001349 Cyt_c_oxidase_su6a # InterPro IPR018507 Cyt_c_oxidase_su6a_CS # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Pathway ko00190 Oxidative phosphorylation # KEGG_Pathway ko04260 Cardiac muscle contraction # KEGG_Pathway ko05010 Alzheimer's disease # KEGG_Pathway ko05012 Parkinson's disease # KEGG_Pathway ko05016 Huntington's disease # MIM 602009 gene # Organism CX6A2_HUMAN Homo sapiens (Human) # PANTHER PTHR11504 PTHR11504 # PIR JC1304 OGHU6A # PIRSF PIRSF000277 COX6A1 # PROSITE PS01329 COX6A # Pfam PF02046 COX6A # ProDom PD006036 Cyt_c_oxidase_su6a # Proteomes UP000005640 Chromosome 16 # RecName CX6A2_HUMAN Cytochrome c oxidase subunit 6A2, mitochondrial # RefSeq NP_005196 NM_005205.3 # SIMILARITY Belongs to the cytochrome c oxidase subunit 6A family. {ECO 0000305}. # SUBCELLULAR LOCATION CX6A2_HUMAN Mitochondrion inner membrane. # SUPFAM SSF81411 SSF81411 # TCDB 3.D.4.11 the proton-translocating cytochrome oxidase (cox) superfamily # TISSUE SPECIFICITY Expressed specifically in heart and muscle. {ECO:0000269|PubMed 1327966}. # UCSC uc002ebx human # eggNOG ENOG411253X LUCA # eggNOG KOG3469 Eukaryota BLAST swissprot:CX6A2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CX6A2_HUMAN BioCyc ZFISH:HS08157-MONOMER http://biocyc.org/getid?id=ZFISH:HS08157-MONOMER COXPRESdb 1339 http://coxpresdb.jp/data/gene/1339.shtml CleanEx HS_COX6A2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_COX6A2 DOI 10.1006/geno.1997.4687 http://dx.doi.org/10.1006/geno.1997.4687 DOI 10.1016/0378-1119(92)90288-Z http://dx.doi.org/10.1016/0378-1119(92)90288-Z DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DrugBank DB02659 http://www.drugbank.ca/drugs/DB02659 EMBL BC029818 http://www.ebi.ac.uk/ena/data/view/BC029818 EMBL M83308 http://www.ebi.ac.uk/ena/data/view/M83308 EMBL U66875 http://www.ebi.ac.uk/ena/data/view/U66875 Ensembl ENST00000287490 http://www.ensembl.org/id/ENST00000287490 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005751 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005751 GO_function GO:0004129 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004129 GO_function GO:0030234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030234 GO_process GO:0006091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006091 GO_process GO:0006123 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006123 GO_process GO:0009060 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009060 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0016491 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016491 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0030234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030234 GOslim_process GO:0006091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006091 Gene3D 4.10.95.10 http://www.cathdb.info/version/latest/superfamily/4.10.95.10 GeneCards COX6A2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=COX6A2 GeneID 1339 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=1339 GeneTree ENSGT00390000002756 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000002756 HGNC HGNC:2279 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:2279 HOGENOM HOG000193965 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000193965&db=HOGENOM6 HOVERGEN HBG060482 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG060482&db=HOVERGEN InParanoid Q02221 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q02221 IntAct Q02221 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q02221* InterPro IPR001349 http://www.ebi.ac.uk/interpro/entry/IPR001349 InterPro IPR018507 http://www.ebi.ac.uk/interpro/entry/IPR018507 Jabion 1339 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=1339 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00002 http://www.genome.jp/dbget-bin/www_bget?ko00002 KEGG_Gene hsa:1339 http://www.genome.jp/dbget-bin/www_bget?hsa:1339 KEGG_Orthology KO:K02266 http://www.genome.jp/dbget-bin/www_bget?KO:K02266 KEGG_Pathway ko00190 http://www.genome.jp/kegg-bin/show_pathway?ko00190 KEGG_Pathway ko04260 http://www.genome.jp/kegg-bin/show_pathway?ko04260 KEGG_Pathway ko05010 http://www.genome.jp/kegg-bin/show_pathway?ko05010 KEGG_Pathway ko05012 http://www.genome.jp/kegg-bin/show_pathway?ko05012 KEGG_Pathway ko05016 http://www.genome.jp/kegg-bin/show_pathway?ko05016 MIM 602009 http://www.ncbi.nlm.nih.gov/omim/602009 OMA NSWLHAG http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=NSWLHAG OrthoDB EOG091G0C5F http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0C5F PANTHER PTHR11504 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11504 PROSITE PS01329 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS01329 PSORT swissprot:CX6A2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CX6A2_HUMAN PSORT-B swissprot:CX6A2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CX6A2_HUMAN PSORT2 swissprot:CX6A2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CX6A2_HUMAN Pfam PF02046 http://pfam.xfam.org/family/PF02046 PharmGKB PA26796 http://www.pharmgkb.org/do/serve?objId=PA26796&objCls=Gene Phobius swissprot:CX6A2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CX6A2_HUMAN PhylomeDB Q02221 http://phylomedb.org/?seqid=Q02221 ProteinModelPortal Q02221 http://www.proteinmodelportal.org/query/uniprot/Q02221 PubMed 1327966 http://www.ncbi.nlm.nih.gov/pubmed/1327966 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 9177785 http://www.ncbi.nlm.nih.gov/pubmed/9177785 RefSeq NP_005196 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_005196 SMR Q02221 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q02221 STRING 9606.ENSP00000287490 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000287490&targetmode=cogs SUPFAM SSF81411 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81411 TCDB 3.D.4.11 http://www.tcdb.org/search/result.php?tc=3.D.4.11 UCSC uc002ebx http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002ebx&org=rat UniGene Hs.250760 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.250760 UniProtKB CX6A2_HUMAN http://www.uniprot.org/uniprot/CX6A2_HUMAN UniProtKB-AC Q02221 http://www.uniprot.org/uniprot/Q02221 charge swissprot:CX6A2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CX6A2_HUMAN eggNOG ENOG411253X http://eggnogapi.embl.de/nog_data/html/tree/ENOG411253X eggNOG KOG3469 http://eggnogapi.embl.de/nog_data/html/tree/KOG3469 epestfind swissprot:CX6A2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CX6A2_HUMAN garnier swissprot:CX6A2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CX6A2_HUMAN helixturnhelix swissprot:CX6A2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CX6A2_HUMAN hmoment swissprot:CX6A2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CX6A2_HUMAN iep swissprot:CX6A2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CX6A2_HUMAN inforesidue swissprot:CX6A2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CX6A2_HUMAN neXtProt NX_Q02221 http://www.nextprot.org/db/entry/NX_Q02221 octanol swissprot:CX6A2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CX6A2_HUMAN pepcoil swissprot:CX6A2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CX6A2_HUMAN pepdigest swissprot:CX6A2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CX6A2_HUMAN pepinfo swissprot:CX6A2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CX6A2_HUMAN pepnet swissprot:CX6A2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CX6A2_HUMAN pepstats swissprot:CX6A2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CX6A2_HUMAN pepwheel swissprot:CX6A2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CX6A2_HUMAN pepwindow swissprot:CX6A2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CX6A2_HUMAN sigcleave swissprot:CX6A2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CX6A2_HUMAN ## Database ID URL or Descriptions # AltName TMC1_HUMAN Transmembrane cochlear-expressed protein 1 # BioGrid 125588 2 # ChiTaRS TMC1 human # DISEASE TMC1_HUMAN Deafness, autosomal dominant, 36 (DFNA36) [MIM 606705] A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA36 is a bilateral hearing loss, and begins at 5-10 years of age. It progresses to profound deafness within 10-15 years. {ECO 0000269|PubMed 11850618}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE TMC1_HUMAN Deafness, autosomal recessive, 7 (DFNB7) [MIM 600974] A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO 0000269|PubMed 11850618}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000297784 ENSP00000297784; ENSG00000165091 # Ensembl ENST00000340019 ENSP00000341433; ENSG00000165091 # FUNCTION TMC1_HUMAN Probable ion channel required for the normal function of cochlear hair cells. {ECO 0000250}. # GO_component GO:0009897 external side of plasma membrane; IEA:Ensembl. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0032426 stereocilium tip; IEA:Ensembl. # GO_function GO:0005245 voltage-gated calcium channel activity; IEA:Ensembl. # GO_process GO:0050910 detection of mechanical stimulus involved in sensory perception of sound; IEA:Ensembl. # GO_process GO:0060005 vestibular reflex; IEA:Ensembl. # GO_process GO:0060117 auditory receptor cell development; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0008150 biological_process # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0050877 neurological system process # Genevisible Q8TDI8 HS # HGNC HGNC:16513 TMC1 # InterPro IPR012496 TMC # KEGG_Disease H00604 [Nervous system disease; Nervous system disease] Deafness, autosomal dominant # KEGG_Disease H00605 [Nervous system disease; Nervous system disease] Deafness, autosomal recessive # MIM 600974 phenotype # MIM 606705 phenotype # MIM 606706 gene # Organism TMC1_HUMAN Homo sapiens (Human) # Orphanet 90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA # Orphanet 90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB # Pfam PF07810 TMC # Proteomes UP000005640 Chromosome 9 # RecName TMC1_HUMAN Transmembrane channel-like protein 1 # RefSeq NP_619636 NM_138691.2 # SEQUENCE CAUTION Sequence=BAC05351.1; Type=Erroneous termination; Positions=744; Note=Translated as Arg.; Evidence={ECO:0000305}; Sequence=BAC05351.1; Type=Frameshift; Positions=588; Evidence={ECO 0000305}; # SIMILARITY Belongs to the TMC family. {ECO 0000305}. # SUBCELLULAR LOCATION TMC1_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # TISSUE SPECIFICITY TMC1_HUMAN Detected in fetal cochlea, and at low levels in placenta and testis. # UCSC uc004aiz human # eggNOG ENOG410IF2J Eukaryota # eggNOG ENOG410XTGF LUCA BLAST swissprot:TMC1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:TMC1_HUMAN BioCyc ZFISH:ENSG00000165091-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000165091-MONOMER COXPRESdb 117531 http://coxpresdb.jp/data/gene/117531.shtml CleanEx HS_TMC1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_TMC1 DOI 10.1038/nature02465 http://dx.doi.org/10.1038/nature02465 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1038/ng842 http://dx.doi.org/10.1038/ng842 EMBL AF417578 http://www.ebi.ac.uk/ena/data/view/AF417578 EMBL AK098607 http://www.ebi.ac.uk/ena/data/view/AK098607 EMBL AL162416 http://www.ebi.ac.uk/ena/data/view/AL162416 EMBL AL162416 http://www.ebi.ac.uk/ena/data/view/AL162416 EMBL AL162416 http://www.ebi.ac.uk/ena/data/view/AL162416 EMBL AL590662 http://www.ebi.ac.uk/ena/data/view/AL590662 EMBL AL590662 http://www.ebi.ac.uk/ena/data/view/AL590662 EMBL AL590662 http://www.ebi.ac.uk/ena/data/view/AL590662 EMBL AL591662 http://www.ebi.ac.uk/ena/data/view/AL591662 EMBL AL591662 http://www.ebi.ac.uk/ena/data/view/AL591662 EMBL AL591662 http://www.ebi.ac.uk/ena/data/view/AL591662 EMBL CH471089 http://www.ebi.ac.uk/ena/data/view/CH471089 Ensembl ENST00000297784 http://www.ensembl.org/id/ENST00000297784 Ensembl ENST00000340019 http://www.ensembl.org/id/ENST00000340019 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0009897 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009897 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0032426 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032426 GO_function GO:0005245 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005245 GO_process GO:0050910 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050910 GO_process GO:0060005 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060005 GO_process GO:0060117 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060117 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GeneCards TMC1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=TMC1 GeneID 117531 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=117531 GeneTree ENSGT00760000119171 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119171 H-InvDB HIX0008098 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0008098 HGNC HGNC:16513 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:16513 HOGENOM HOG000231742 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231742&db=HOGENOM6 HOVERGEN HBG036209 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG036209&db=HOVERGEN HPA HPA044166 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA044166 HPA HPA046773 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA046773 InParanoid Q8TDI8 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8TDI8 IntAct Q8TDI8 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q8TDI8* InterPro IPR012496 http://www.ebi.ac.uk/interpro/entry/IPR012496 Jabion 117531 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=117531 KEGG_Disease H00604 http://www.genome.jp/dbget-bin/www_bget?H00604 KEGG_Disease H00605 http://www.genome.jp/dbget-bin/www_bget?H00605 KEGG_Gene hsa:117531 http://www.genome.jp/dbget-bin/www_bget?hsa:117531 MIM 600974 http://www.ncbi.nlm.nih.gov/omim/600974 MIM 606705 http://www.ncbi.nlm.nih.gov/omim/606705 MIM 606706 http://www.ncbi.nlm.nih.gov/omim/606706 OMA MIATVKC http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=MIATVKC Orphanet 90635 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=90635 Orphanet 90636 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=90636 OrthoDB EOG091G00X0 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G00X0 PSORT swissprot:TMC1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:TMC1_HUMAN PSORT-B swissprot:TMC1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:TMC1_HUMAN PSORT2 swissprot:TMC1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:TMC1_HUMAN Pfam PF07810 http://pfam.xfam.org/family/PF07810 PharmGKB PA38156 http://www.pharmgkb.org/do/serve?objId=PA38156&objCls=Gene Phobius swissprot:TMC1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:TMC1_HUMAN PhylomeDB Q8TDI8 http://phylomedb.org/?seqid=Q8TDI8 ProteinModelPortal Q8TDI8 http://www.proteinmodelportal.org/query/uniprot/Q8TDI8 PubMed 11850618 http://www.ncbi.nlm.nih.gov/pubmed/11850618 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15164053 http://www.ncbi.nlm.nih.gov/pubmed/15164053 RefSeq NP_619636 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_619636 STRING 9606.ENSP00000297784 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000297784&targetmode=cogs UCSC uc004aiz http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc004aiz&org=rat UniGene Hs.670211 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.670211 UniProtKB TMC1_HUMAN http://www.uniprot.org/uniprot/TMC1_HUMAN UniProtKB-AC Q8TDI8 http://www.uniprot.org/uniprot/Q8TDI8 charge swissprot:TMC1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:TMC1_HUMAN eggNOG ENOG410IF2J http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IF2J eggNOG ENOG410XTGF http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XTGF epestfind swissprot:TMC1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:TMC1_HUMAN garnier swissprot:TMC1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:TMC1_HUMAN helixturnhelix swissprot:TMC1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:TMC1_HUMAN hmoment swissprot:TMC1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:TMC1_HUMAN iep swissprot:TMC1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:TMC1_HUMAN inforesidue swissprot:TMC1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:TMC1_HUMAN neXtProt NX_Q8TDI8 http://www.nextprot.org/db/entry/NX_Q8TDI8 octanol swissprot:TMC1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:TMC1_HUMAN pepcoil swissprot:TMC1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:TMC1_HUMAN pepdigest swissprot:TMC1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:TMC1_HUMAN pepinfo swissprot:TMC1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:TMC1_HUMAN pepnet swissprot:TMC1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:TMC1_HUMAN pepstats swissprot:TMC1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:TMC1_HUMAN pepwheel swissprot:TMC1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:TMC1_HUMAN pepwindow swissprot:TMC1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:TMC1_HUMAN sigcleave swissprot:TMC1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:TMC1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS Event=Alternative splicing; Named isoforms=7; Comment=May be partially controlled by hormonal stress. Additional isoforms seem to exist.; Name=1; Synonyms=SAKCA; IsoId=Q12791-1; Sequence=Displayed; Name=2; Synonyms=BKTM; IsoId=Q12791-2; Sequence=VSP_009955, VSP_009958; Name=3; IsoId=Q12791-3; Sequence=VSP_009954; Name=4; Synonyms=hbr5; IsoId=Q12791-4; Sequence=VSP_009956; Name=5; IsoId=Q12791-5; Sequence=VSP_009955; Name=6; IsoId=Q12791-6; Sequence=VSP_009952, VSP_009953; Note=No experimental confirmation available.; Name=7; Synonyms=gBK; IsoId=Q12791-7; Sequence=VSP_009957; Note=Ref.13 (no nucleotide entry) sequence is in conflict in positions: 726 FS->SF. {ECO:0000305}; # AltName KCMA1_HUMAN BK channel # AltName KCMA1_HUMAN BKCA alpha # AltName KCMA1_HUMAN Calcium-activated potassium channel, subfamily M subunit alpha-1 # AltName KCMA1_HUMAN K(VCA)alpha # AltName KCMA1_HUMAN KCa1.1 # AltName KCMA1_HUMAN Maxi K channel # AltName KCMA1_HUMAN Slo-alpha # AltName KCMA1_HUMAN Slo1 # AltName KCMA1_HUMAN Slowpoke homolog # BioGrid 109979 10 # CCDS CCDS53545 -. [Q12791-2] # CCDS CCDS60569 -. [Q12791-1] # CCDS CCDS60571 -. [Q12791-6] # CCDS CCDS7352 -. [Q12791-5] # ChiTaRS KCNMA1 human # DISEASE KCMA1_HUMAN Generalized epilepsy and paroxysmal dyskinesia (GEPD) [MIM 609446] Epilepsy is one of the most common and debilitating neurological disorders. Paroxysmal dyskinesias are neurological disorders characterized by sudden, unpredictable, disabling attacks of involuntary movement often requiring life-long treatment. The coexistence of epilepsy and paroxysmal dyskinesia in the same individual or family is an increasingly recognized phenomenon. Patients manifest absence seizures, generalized tonic- clonic seizures, paroxysmal nonkinesigenic dyskinesia, involuntary dystonic or choreiform movements. Onset is usually in childhood and patients may have seizures only, dyskinesia only, or both. {ECO 0000269|PubMed 15937479}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DOMAIN KCMA1_HUMAN The RCK N-terminal domain mediates the homotetramerization, thereby promoting the assembly of monomers into functional potassium channel. It includes binding sites for Ca(2+) and Mg(2+) (By similarity). {ECO 0000250}. # DOMAIN KCMA1_HUMAN The S0 segment is essential for the modulation by the accessory beta subunits KCNMB1, KCNMB2, KCNMB3 and KCNMB4. # DOMAIN KCMA1_HUMAN The S4 segment, which is characterized by a series of positively charged amino acids at every third position, is part of the voltage-sensor. # DOMAIN KCMA1_HUMAN The calcium bowl constitutes one of the Ca(2+) sensors and probably acts as a Ca(2+)-binding site. There are however other Ca(2+) sensors regions required for activation of the channel. # DOMAIN KCMA1_HUMAN The heme-binding motif mediates inhibition of channel activation by heme. Carbon monoxide-bound heme leads to increased channel activation. # DOMAIN KCMA1_HUMAN The pore-forming domain (also referred as P region) is imbedded into the membrane, and forms the selectivity filter of the pore. It contains the signature sequence of potassium channels that displays selectivity to potassium. # DrugBank DB00356 Chlorzoxazone # DrugBank DB00436 Bendroflumethiazide # DrugBank DB00721 Procaine # DrugBank DB00774 Hydroflumethiazide # DrugBank DB00999 Hydrochlorothiazide # DrugBank DB01003 Cromoglicic acid # DrugBank DB01110 Miconazole # DrugBank DB01119 Diazoxide # DrugBank DB01159 Halothane # ENZYME REGULATION Ethanol and carbon monoxide-bound heme increase channel activation. Heme inhibits channel activation. {ECO:0000269|PubMed 14523450}. # Ensembl ENST00000286627 ENSP00000286627; ENSG00000156113. [Q12791-5] # Ensembl ENST00000286628 ENSP00000286628; ENSG00000156113. [Q12791-1] # Ensembl ENST00000480683 ENSP00000474686; ENSG00000156113. [Q12791-6] # Ensembl ENST00000626620 ENSP00000485867; ENSG00000156113. [Q12791-2] # ExpressionAtlas Q12791 baseline and differential # FUNCTION KCMA1_HUMAN Potassium channel activated by both membrane depolarization or increase in cytosolic Ca(2+) that mediates export of K(+). It is also activated by the concentration of cytosolic Mg(2+). Its activation dampens the excitatory events that elevate the cytosolic Ca(2+) concentration and/or depolarize the cell membrane. It therefore contributes to repolarization of the membrane potential. Plays a key role in controlling excitability in a number of systems, such as regulation of the contraction of smooth muscle, the tuning of hair cells in the cochlea, regulation of transmitter release, and innate immunity. In smooth muscles, its activation by high level of Ca(2+), caused by ryanodine receptors in the sarcoplasmic reticulum, regulates the membrane potential. In cochlea cells, its number and kinetic properties partly determine the characteristic frequency of each hair cell and thereby helps to establish a tonotopic map. Kinetics of KCNMA1 channels are determined by alternative splicing, phosphorylation status and its combination with modulating beta subunits. Highly sensitive to both iberiotoxin (IbTx) and charybdotoxin (CTX). # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005901 caveola; IDA:BHF-UCL. # GO_component GO:0008076 voltage-gated potassium channel complex; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; IDA:UniProtKB. # GO_component GO:0016324 apical plasma membrane; IDA:UniProtKB. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0003779 actin binding; IDA:BHF-UCL. # GO_function GO:0005249 voltage-gated potassium channel activity; IDA:UniProtKB. # GO_function GO:0015269 calcium-activated potassium channel activity; IDA:UniProtKB. # GO_function GO:0046872 metal ion binding; IEA:UniProtKB-KW. # GO_function GO:0060072 large conductance calcium-activated potassium channel activity; IDA:UniProtKB. # GO_process GO:0001666 response to hypoxia; IDA:UniProtKB. # GO_process GO:0006813 potassium ion transport; IDA:UniProtKB. # GO_process GO:0006970 response to osmotic stress; IDA:UniProtKB. # GO_process GO:0030007 cellular potassium ion homeostasis; IDA:UniProtKB. # GO_process GO:0034465 response to carbon monoxide; IDA:UniProtKB. # GO_process GO:0042391 regulation of membrane potential; IDA:UniProtKB. # GO_process GO:0043065 positive regulation of apoptotic process; IMP:UniProtKB. # GO_process GO:0045794 negative regulation of cell volume; IDA:UniProtKB. # GO_process GO:0051592 response to calcium ion; IDA:UniProtKB. # GO_process GO:0060073 micturition; IDA:UniProtKB. # GO_process GO:0060083 smooth muscle contraction involved in micturition; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0008092 cytoskeletal protein binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # Gene3D 3.40.50.720 -; 3. # Genevisible Q12791 HS # HGNC HGNC:6284 KCNMA1 # IntAct Q12791 2 # InterPro IPR003929 K_chnl_Ca-activ_BK_asu # InterPro IPR005821 Ion_trans_dom # InterPro IPR016040 NAD(P)-bd_dom # InterPro IPR028325 VG_K_chnl # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Disease H01258 [Nervous system disease; Epilepsy] Generalized epilepsy and paroxysmal dyskinesia (GEPD) # KEGG_Pathway ko04270 Vascular smooth muscle contraction # KEGG_Pathway ko04970 Salivary secretion # KEGG_Pathway ko04972 Pancreatic secretion # MIM 600150 gene # MIM 609446 phenotype # MISCELLANEOUS The protein was initially thought to contain two functionally distinct parts The core channel (from the N-terminus to the S9 segment) that mediates the channel activity, and the cytoplasmic tail (from the S9 segment to the C-terminus) that mediates the calcium sensing. The situation is however more complex, since the core channel also contains binding sites for Ca(2+) and Mg(2+). # Organism KCMA1_HUMAN Homo sapiens (Human) # Orphanet 79137 Generalized epilepsy - paroxysmal dyskinesia # PDB 2K44 NMR; -; A=257-284 # PDB 3MT5 X-ray; 3.00 A; A=406-1179 # PDB 3NAF X-ray; 3.10 A; A=395-681, A=782-1182 # PIR I38596 I38596 # PIR S62904 S62904 # PRINTS PR00169 KCHANNEL # PRINTS PR01449 BKCHANNELA # PTM KCMA1_HUMAN Palmitoylation by ZDHHC22 and ZDHHC23 within the intracellular linker between the S0 and S1 transmembrane domains regulates localization to the plasma membrane. Depalmitoylated by LYPLA1 and LYPLAL1, leading to retard exit from the trans-Golgi network. {ECO 0000269|PubMed 20693285, ECO 0000269|PubMed 22399288}. # PTM KCMA1_HUMAN Phosphorylated (Probable). Phosphorylation by kinases such as PKA and/or PKG. In smooth muscles, phosphorylation affects its activity. {ECO 0000305}. # Pfam PF00520 Ion_trans # Pfam PF03493 BK_channel_a # Proteomes UP000005640 Chromosome 10 # Reactome R-HSA-1296052 Ca2+ activated K+ channels # Reactome R-HSA-418457 cGMP effects # RecName KCMA1_HUMAN Calcium-activated potassium channel subunit alpha-1 # RefSeq NP_001014797 NM_001014797.2 # RefSeq NP_001154824 NM_001161352.1. [Q12791-1] # RefSeq NP_001154825 NM_001161353.1. [Q12791-2] # RefSeq NP_001258447 NM_001271518.1 # RefSeq NP_001258451 NM_001271522.1. [Q12791-6] # RefSeq NP_002238 NM_002247.3. [Q12791-5] # SEQUENCE CAUTION KCMA1_HUMAN Sequence=AAA50216.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part.; Evidence={ECO 0000305}; Sequence=AAB65837.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; Sequence=AAC50353.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; Sequence=AAK91504.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; Sequence=BAD06365.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the potassium channel family. Calcium- activated (TC 1.A.1.3) subfamily. KCa1.1/KCNMA1 sub-subfamily. {ECO 0000305}. # SIMILARITY Contains 1 RCK N-terminal domain. {ECO 0000305}. # SUBCELLULAR LOCATION KCMA1_HUMAN Cell membrane {ECO 0000269|PubMed 20693285, ECO 0000269|PubMed 22399288}; Multi-pass membrane protein {ECO 0000269|PubMed 20693285, ECO 0000269|PubMed 22399288}. # SUBUNIT KCMA1_HUMAN Homotetramer; which constitutes the calcium-activated potassium channel. Interacts with RAB11B (By similarity). Interacts with beta subunits KCNMB1, KCNMB2, KCNMB3 and KCNMB4. Interacts with gamma subunits LRRC26, LRRC38, LRRC52 and LRRC55. Beta and gamma subunits are accessory, and modulate its activity. {ECO 0000250, ECO 0000269|PubMed 10097176, ECO 0000269|PubMed 10692449, ECO 0000269|PubMed 11880485, ECO 0000269|PubMed 20508092, ECO 0000269|PubMed 20613726, ECO 0000269|PubMed 22547800}. # SUPFAM SSF51735 SSF51735 # TISSUE SPECIFICITY Widely expressed. Except in myocytes, it is almost ubiquitously expressed. {ECO:0000269|PubMed 11880513}. # UCSC uc001jxm human. [Q12791-1] BLAST swissprot:KCMA1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCMA1_HUMAN COXPRESdb 3778 http://coxpresdb.jp/data/gene/3778.shtml DIP DIP-29729N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-29729N DOI 10.1016/0169-328X(94)90203-8 http://dx.doi.org/10.1016/0169-328X(94)90203-8 DOI 10.1016/0896-6273(94)90418-9 http://dx.doi.org/10.1016/0896-6273(94)90418-9 DOI 10.1016/S0896-6273(01)00444-5 http://dx.doi.org/10.1016/S0896-6273(01)00444-5 DOI 10.1038/nature02003 http://dx.doi.org/10.1038/nature02003 DOI 10.1038/nature02462 http://dx.doi.org/10.1038/nature02462 DOI 10.1038/nature09162 http://dx.doi.org/10.1038/nature09162 DOI 10.1038/ng1585 http://dx.doi.org/10.1038/ng1585 DOI 10.1073/pnas.1205435109 http://dx.doi.org/10.1073/pnas.1205435109 DOI 10.1073/pnas.93.25.14922 http://dx.doi.org/10.1073/pnas.93.25.14922 DOI 10.1073/pnas.94.25.14066 http://dx.doi.org/10.1073/pnas.94.25.14066 DOI 10.1073/pnas.96.7.4137 http://dx.doi.org/10.1073/pnas.96.7.4137 DOI 10.1074/jbc.273.49.32430 http://dx.doi.org/10.1074/jbc.273.49.32430 DOI 10.1074/jbc.275.9.6453 http://dx.doi.org/10.1074/jbc.275.9.6453 DOI 10.1074/jbc.M110.153940 http://dx.doi.org/10.1074/jbc.M110.153940 DOI 10.1074/jbc.M111.335547 http://dx.doi.org/10.1074/jbc.M111.335547 DOI 10.1085/jgp.20028721 http://dx.doi.org/10.1085/jgp.20028721 DOI 10.1093/hmg/3.8.1239 http://dx.doi.org/10.1093/hmg/3.8.1239 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1124/jpet.110.166017 http://dx.doi.org/10.1124/jpet.110.166017 DOI 10.1126/science.1190414 http://dx.doi.org/10.1126/science.1190414 DrugBank DB00356 http://www.drugbank.ca/drugs/DB00356 DrugBank DB00436 http://www.drugbank.ca/drugs/DB00436 DrugBank DB00721 http://www.drugbank.ca/drugs/DB00721 DrugBank DB00774 http://www.drugbank.ca/drugs/DB00774 DrugBank DB00999 http://www.drugbank.ca/drugs/DB00999 DrugBank DB01003 http://www.drugbank.ca/drugs/DB01003 DrugBank DB01110 http://www.drugbank.ca/drugs/DB01110 DrugBank DB01119 http://www.drugbank.ca/drugs/DB01119 DrugBank DB01159 http://www.drugbank.ca/drugs/DB01159 EMBL AB113382 http://www.ebi.ac.uk/ena/data/view/AB113382 EMBL AB113575 http://www.ebi.ac.uk/ena/data/view/AB113575 EMBL AC011439 http://www.ebi.ac.uk/ena/data/view/AC011439 EMBL AC011439 http://www.ebi.ac.uk/ena/data/view/AC011439 EMBL AC011439 http://www.ebi.ac.uk/ena/data/view/AC011439 EMBL AC011439 http://www.ebi.ac.uk/ena/data/view/AC011439 EMBL AC011439 http://www.ebi.ac.uk/ena/data/view/AC011439 EMBL AC011439 http://www.ebi.ac.uk/ena/data/view/AC011439 EMBL AC011439 http://www.ebi.ac.uk/ena/data/view/AC011439 EMBL AC011439 http://www.ebi.ac.uk/ena/data/view/AC011439 EMBL AC021032 http://www.ebi.ac.uk/ena/data/view/AC021032 EMBL AC021032 http://www.ebi.ac.uk/ena/data/view/AC021032 EMBL AC021032 http://www.ebi.ac.uk/ena/data/view/AC021032 EMBL AC021032 http://www.ebi.ac.uk/ena/data/view/AC021032 EMBL AC021032 http://www.ebi.ac.uk/ena/data/view/AC021032 EMBL AC021032 http://www.ebi.ac.uk/ena/data/view/AC021032 EMBL AC021032 http://www.ebi.ac.uk/ena/data/view/AC021032 EMBL AC021032 http://www.ebi.ac.uk/ena/data/view/AC021032 EMBL AC067745 http://www.ebi.ac.uk/ena/data/view/AC067745 EMBL AF025999 http://www.ebi.ac.uk/ena/data/view/AF025999 EMBL AF118141 http://www.ebi.ac.uk/ena/data/view/AF118141 EMBL AL157833 http://www.ebi.ac.uk/ena/data/view/AL157833 EMBL AL157833 http://www.ebi.ac.uk/ena/data/view/AL157833 EMBL AL157833 http://www.ebi.ac.uk/ena/data/view/AL157833 EMBL AL157833 http://www.ebi.ac.uk/ena/data/view/AL157833 EMBL AL157833 http://www.ebi.ac.uk/ena/data/view/AL157833 EMBL AL157833 http://www.ebi.ac.uk/ena/data/view/AL157833 EMBL AL157833 http://www.ebi.ac.uk/ena/data/view/AL157833 EMBL AL157833 http://www.ebi.ac.uk/ena/data/view/AL157833 EMBL AL607069 http://www.ebi.ac.uk/ena/data/view/AL607069 EMBL AL627447 http://www.ebi.ac.uk/ena/data/view/AL627447 EMBL AL627447 http://www.ebi.ac.uk/ena/data/view/AL627447 EMBL AL627447 http://www.ebi.ac.uk/ena/data/view/AL627447 EMBL AL627447 http://www.ebi.ac.uk/ena/data/view/AL627447 EMBL AL627447 http://www.ebi.ac.uk/ena/data/view/AL627447 EMBL AL627447 http://www.ebi.ac.uk/ena/data/view/AL627447 EMBL AL627447 http://www.ebi.ac.uk/ena/data/view/AL627447 EMBL AL627447 http://www.ebi.ac.uk/ena/data/view/AL627447 EMBL AL731556 http://www.ebi.ac.uk/ena/data/view/AL731556 EMBL AL731556 http://www.ebi.ac.uk/ena/data/view/AL731556 EMBL AL731556 http://www.ebi.ac.uk/ena/data/view/AL731556 EMBL AL731556 http://www.ebi.ac.uk/ena/data/view/AL731556 EMBL AL731556 http://www.ebi.ac.uk/ena/data/view/AL731556 EMBL AL731556 http://www.ebi.ac.uk/ena/data/view/AL731556 EMBL AL731556 http://www.ebi.ac.uk/ena/data/view/AL731556 EMBL AL731556 http://www.ebi.ac.uk/ena/data/view/AL731556 EMBL AL731560 http://www.ebi.ac.uk/ena/data/view/AL731560 EMBL AL731560 http://www.ebi.ac.uk/ena/data/view/AL731560 EMBL AL731560 http://www.ebi.ac.uk/ena/data/view/AL731560 EMBL AL731560 http://www.ebi.ac.uk/ena/data/view/AL731560 EMBL AL731560 http://www.ebi.ac.uk/ena/data/view/AL731560 EMBL AL731560 http://www.ebi.ac.uk/ena/data/view/AL731560 EMBL AL731560 http://www.ebi.ac.uk/ena/data/view/AL731560 EMBL AL731560 http://www.ebi.ac.uk/ena/data/view/AL731560 EMBL AL731575 http://www.ebi.ac.uk/ena/data/view/AL731575 EMBL AY040849 http://www.ebi.ac.uk/ena/data/view/AY040849 EMBL BC062659 http://www.ebi.ac.uk/ena/data/view/BC062659 EMBL BC137115 http://www.ebi.ac.uk/ena/data/view/BC137115 EMBL BC137137 http://www.ebi.ac.uk/ena/data/view/BC137137 EMBL CH471083 http://www.ebi.ac.uk/ena/data/view/CH471083 EMBL U02632 http://www.ebi.ac.uk/ena/data/view/U02632 EMBL U09384 http://www.ebi.ac.uk/ena/data/view/U09384 EMBL U11058 http://www.ebi.ac.uk/ena/data/view/U11058 EMBL U11717 http://www.ebi.ac.uk/ena/data/view/U11717 EMBL U13913 http://www.ebi.ac.uk/ena/data/view/U13913 EMBL U23767 http://www.ebi.ac.uk/ena/data/view/U23767 Ensembl ENST00000286627 http://www.ensembl.org/id/ENST00000286627 Ensembl ENST00000286628 http://www.ensembl.org/id/ENST00000286628 Ensembl ENST00000480683 http://www.ensembl.org/id/ENST00000480683 Ensembl ENST00000626620 http://www.ensembl.org/id/ENST00000626620 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005901 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005901 GO_component GO:0008076 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008076 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0003779 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003779 GO_function GO:0005249 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005249 GO_function GO:0015269 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015269 GO_function GO:0046872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046872 GO_function GO:0060072 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060072 GO_process GO:0001666 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001666 GO_process GO:0006813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006813 GO_process GO:0006970 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006970 GO_process GO:0030007 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030007 GO_process GO:0034465 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034465 GO_process GO:0042391 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042391 GO_process GO:0043065 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043065 GO_process GO:0045794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045794 GO_process GO:0051592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051592 GO_process GO:0060073 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060073 GO_process GO:0060083 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060083 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0008092 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008092 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 Gene3D 3.40.50.720 http://www.cathdb.info/version/latest/superfamily/3.40.50.720 GeneCards KCNMA1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNMA1 GeneID 3778 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=3778 GeneTree ENSGT00530000063026 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000063026 HGNC HGNC:6284 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6284 HOVERGEN HBG052222 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052222&db=HOVERGEN HPA HPA054648 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA054648 HPA HPA057838 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA057838 InParanoid Q12791 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q12791 IntAct Q12791 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q12791* InterPro IPR003929 http://www.ebi.ac.uk/interpro/entry/IPR003929 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR016040 http://www.ebi.ac.uk/interpro/entry/IPR016040 InterPro IPR028325 http://www.ebi.ac.uk/interpro/entry/IPR028325 Jabion 3778 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=3778 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H01258 http://www.genome.jp/dbget-bin/www_bget?H01258 KEGG_Gene hsa:3778 http://www.genome.jp/dbget-bin/www_bget?hsa:3778 KEGG_Orthology KO:K04936 http://www.genome.jp/dbget-bin/www_bget?KO:K04936 KEGG_Pathway ko04270 http://www.genome.jp/kegg-bin/show_pathway?ko04270 KEGG_Pathway ko04970 http://www.genome.jp/kegg-bin/show_pathway?ko04970 KEGG_Pathway ko04972 http://www.genome.jp/kegg-bin/show_pathway?ko04972 MIM 600150 http://www.ncbi.nlm.nih.gov/omim/600150 MIM 609446 http://www.ncbi.nlm.nih.gov/omim/609446 MINT MINT-4825316 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-4825316 Orphanet 79137 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=79137 PDB 2K44 http://www.ebi.ac.uk/pdbe-srv/view/entry/2K44 PDB 3MT5 http://www.ebi.ac.uk/pdbe-srv/view/entry/3MT5 PDB 3NAF http://www.ebi.ac.uk/pdbe-srv/view/entry/3NAF PDBsum 2K44 http://www.ebi.ac.uk/pdbsum/2K44 PDBsum 3MT5 http://www.ebi.ac.uk/pdbsum/3MT5 PDBsum 3NAF http://www.ebi.ac.uk/pdbsum/3NAF PRINTS PR00169 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00169 PRINTS PR01449 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01449 PSORT swissprot:KCMA1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCMA1_HUMAN PSORT-B swissprot:KCMA1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCMA1_HUMAN PSORT2 swissprot:KCMA1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCMA1_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF03493 http://pfam.xfam.org/family/PF03493 PharmGKB PA220 http://www.pharmgkb.org/do/serve?objId=PA220&objCls=Gene Phobius swissprot:KCMA1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCMA1_HUMAN PhylomeDB Q12791 http://phylomedb.org/?seqid=Q12791 ProteinModelPortal Q12791 http://www.proteinmodelportal.org/query/uniprot/Q12791 PubMed 10097176 http://www.ncbi.nlm.nih.gov/pubmed/10097176 PubMed 10692449 http://www.ncbi.nlm.nih.gov/pubmed/10692449 PubMed 11604135 http://www.ncbi.nlm.nih.gov/pubmed/11604135 PubMed 11880485 http://www.ncbi.nlm.nih.gov/pubmed/11880485 PubMed 11880513 http://www.ncbi.nlm.nih.gov/pubmed/11880513 PubMed 12434576 http://www.ncbi.nlm.nih.gov/pubmed/12434576 PubMed 12566537 http://www.ncbi.nlm.nih.gov/pubmed/12566537 PubMed 14523450 http://www.ncbi.nlm.nih.gov/pubmed/14523450 PubMed 15164054 http://www.ncbi.nlm.nih.gov/pubmed/15164054 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15937479 http://www.ncbi.nlm.nih.gov/pubmed/15937479 PubMed 20430843 http://www.ncbi.nlm.nih.gov/pubmed/20430843 PubMed 20508092 http://www.ncbi.nlm.nih.gov/pubmed/20508092 PubMed 20613726 http://www.ncbi.nlm.nih.gov/pubmed/20613726 PubMed 20693285 http://www.ncbi.nlm.nih.gov/pubmed/20693285 PubMed 22399288 http://www.ncbi.nlm.nih.gov/pubmed/22399288 PubMed 22547800 http://www.ncbi.nlm.nih.gov/pubmed/22547800 PubMed 7573516 http://www.ncbi.nlm.nih.gov/pubmed/7573516 PubMed 7877450 http://www.ncbi.nlm.nih.gov/pubmed/7877450 PubMed 7987297 http://www.ncbi.nlm.nih.gov/pubmed/7987297 PubMed 7993625 http://www.ncbi.nlm.nih.gov/pubmed/7993625 PubMed 8821792 http://www.ncbi.nlm.nih.gov/pubmed/8821792 PubMed 8962157 http://www.ncbi.nlm.nih.gov/pubmed/8962157 PubMed 9391153 http://www.ncbi.nlm.nih.gov/pubmed/9391153 PubMed 9829973 http://www.ncbi.nlm.nih.gov/pubmed/9829973 Reactome R-HSA-1296052 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1296052 Reactome R-HSA-418457 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-418457 RefSeq NP_001014797 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001014797 RefSeq NP_001154824 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001154824 RefSeq NP_001154825 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001154825 RefSeq NP_001258447 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001258447 RefSeq NP_001258451 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001258451 RefSeq NP_002238 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_002238 SMR Q12791 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q12791 SUPFAM SSF51735 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF51735 UCSC uc001jxm http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001jxm&org=rat UniGene Hs.144795 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.144795 UniGene Hs.658064 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.658064 UniProtKB KCMA1_HUMAN http://www.uniprot.org/uniprot/KCMA1_HUMAN UniProtKB-AC Q12791 http://www.uniprot.org/uniprot/Q12791 charge swissprot:KCMA1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCMA1_HUMAN epestfind swissprot:KCMA1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCMA1_HUMAN garnier swissprot:KCMA1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCMA1_HUMAN helixturnhelix swissprot:KCMA1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCMA1_HUMAN hmoment swissprot:KCMA1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCMA1_HUMAN iep swissprot:KCMA1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCMA1_HUMAN inforesidue swissprot:KCMA1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCMA1_HUMAN neXtProt NX_Q12791 http://www.nextprot.org/db/entry/NX_Q12791 octanol swissprot:KCMA1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCMA1_HUMAN pepcoil swissprot:KCMA1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCMA1_HUMAN pepdigest swissprot:KCMA1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCMA1_HUMAN pepinfo swissprot:KCMA1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCMA1_HUMAN pepnet swissprot:KCMA1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCMA1_HUMAN pepstats swissprot:KCMA1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCMA1_HUMAN pepwheel swissprot:KCMA1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCMA1_HUMAN pepwindow swissprot:KCMA1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCMA1_HUMAN sigcleave swissprot:KCMA1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCMA1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS GAR1_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NY12-1; Sequence=Displayed; Name=2; IsoId=Q9NY12-2; Sequence=VSP_014594; Note=No experimental confirmation available.; # AltName GAR1_HUMAN Nucleolar protein family A member 1 # AltName GAR1_HUMAN snoRNP protein GAR1 # BioGrid 119949 89 # CCDS CCDS34050 -. [Q9NY12-1] # DOMAIN GAR1_HUMAN Interaction with SMN1 requires at least one of the RGG-box regions. # Ensembl ENST00000226796 ENSP00000226796; ENSG00000109534. [Q9NY12-1] # Ensembl ENST00000394631 ENSP00000378127; ENSG00000109534. [Q9NY12-1] # ExpressionAtlas Q9NY12 baseline and differential # FUNCTION GAR1_HUMAN Required for ribosome biogenesis and telomere maintenance. Part of the H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA. This involves the isomerization of uridine such that the ribose is subsequently attached to C5, instead of the normal N1. Each rRNA can contain up to 100 pseudouridine ("psi") residues, which may serve to stabilize the conformation of rRNAs. May also be required for correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase reverse transcriptase (TERT) holoenzyme. {ECO 0000269|PubMed 10757788, ECO 0000269|PubMed 15044956}. # GO_component GO:0000784 nuclear chromosome, telomeric region; IDA:BHF-UCL. # GO_component GO:0005634 nucleus; IDA:HPA. # GO_component GO:0005654 nucleoplasm; TAS:Reactome. # GO_component GO:0005697 telomerase holoenzyme complex; TAS:BHF-UCL. # GO_component GO:0005730 nucleolus; IDA:HPA. # GO_component GO:0031429 box H/ACA snoRNP complex; IDA:BHF-UCL. # GO_component GO:0072589 box H/ACA scaRNP complex; TAS:BHF-UCL. # GO_component GO:0090661 box H/ACA telomerase RNP complex; IDA:BHF-UCL. # GO_function GO:0005261 cation channel activity; TAS:ProtInc. # GO_function GO:0034513 box H/ACA snoRNA binding; IPI:BHF-UCL. # GO_function GO:0044822 poly(A) RNA binding; IDA:UniProtKB. # GO_function GO:0070034 telomerase RNA binding; IPI:BHF-UCL. # GO_process GO:0000454 snoRNA guided rRNA pseudouridine synthesis; IBA:GO_Central. # GO_process GO:0007004 telomere maintenance via telomerase; TAS:BHF-UCL. # GO_process GO:0031118 rRNA pseudouridine synthesis; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005654 nucleoplasm # GOslim_component GO:0005730 nucleolus # GOslim_function GO:0003723 RNA binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006259 DNA metabolic process # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0051276 chromosome organization # Genevisible Q9NY12 HS # HGNC HGNC:14264 GAR1 # IntAct Q9NY12 60 # InterPro IPR007504 H/ACA_rnp_Gar1/Naf1 # InterPro IPR009000 Transl_B-barrel # InterPro IPR021154 H/ACA_rnp_Gar1 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Brite ko03009 M00425 H/ACA ribonucleoprotein complex # KEGG_Brite ko03009 Ribosome biogenesis # KEGG_Brite ko03032 DNA replication proteins # KEGG_Brite ko03032 M00425 H/ACA ribonucleoprotein complex # KEGG_Pathway ko03008 Ribosome biogenesis in eukaryotes # MIM 606468 gene # Organism GAR1_HUMAN Homo sapiens (Human) # PANTHER PTHR23237 PTHR23237 # Pfam PF04410 Gar1 # ProDom PD020235 Gar1_RNA_bd # Proteomes UP000005640 Chromosome 4 # Reactome R-HSA-6790901 rRNA modification in the nucleus and cytosol # RecName GAR1_HUMAN H/ACA ribonucleoprotein complex subunit 1 # RefSeq NP_061856 NM_018983.3. [Q9NY12-1] # RefSeq NP_127460 NM_032993.2. [Q9NY12-1] # SIMILARITY Belongs to the GAR1 family. {ECO 0000305}. # SUBCELLULAR LOCATION GAR1_HUMAN Nucleus, nucleolus. Nucleus, Cajal body. Note=Also localized to Cajal bodies (coiled bodies). # SUBUNIT GAR1_HUMAN Part of the H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which contains NHP2/NOLA2, GAR1/NOLA1, NOP10/NOLA3, and DKC1/NOLA4, which is presumed to be the catalytic subunit. The complex contains a stable core formed by binding of one or two NOP10-DKC1 heterodimers to NHP2; GAR1 subsequently binds to this core via DKC1. The complex binds a box H/ACA small nucleolar RNA (snoRNA), which may target the specific site of modification within the RNA substrate. The complex also interacts with TERC, which contains a 3'-terminal domain related to the box H/ACA snoRNAs. Specific interactions with snoRNAs or TERC are mediated by GAR1 and NHP2. Associates with NOLC1/NOPP140. H/ACA snoRNPs interact with the SMN complex, consisting of SMN1 or SMN2, GEMIN2/SIP1, DDX20/GEMIN3, and GEMIN4. This is mediated by interaction between GAR1 and SMN1 or SMN2. The SMN complex may be required for correct assembly of the H/ACA snoRNP complex. Component of the telomerase holoenzyme complex at least composed of TERT, DKC1, WRAP53/TCAB1, NOP10, NHP2, GAR1, TEP1, EST1A, POT1 and a telomerase RNA template component (TERC). {ECO 0000269|PubMed 11509230, ECO 0000269|PubMed 12244096, ECO 0000269|PubMed 19179534}. # SUPFAM SSF50447 SSF50447 # UCSC uc003hzt human. [Q9NY12-1] # eggNOG COG3277 LUCA # eggNOG KOG3262 Eukaryota BLAST swissprot:GAR1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:GAR1_HUMAN BioCyc ZFISH:ENSG00000109534-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000109534-MONOMER BioCyc ZFISH:ENSG00000139910-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000139910-MONOMER BioCyc ZFISH:ENSG00000146276-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000146276-MONOMER COXPRESdb 54433 http://coxpresdb.jp/data/gene/54433.shtml CleanEx HS_GAR1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_GAR1 DOI 10.1016/S0960-9822(01)00316-5 http://dx.doi.org/10.1016/S0960-9822(01)00316-5 DOI 10.1016/S0960-9822(01)00650-9 http://dx.doi.org/10.1016/S0960-9822(01)00650-9 DOI 10.1038/sj.emboj.7600181 http://dx.doi.org/10.1038/sj.emboj.7600181 DOI 10.1074/jbc.M204551200 http://dx.doi.org/10.1074/jbc.M204551200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1165357 http://dx.doi.org/10.1126/science.1165357 DOI 10.1128/MCB.20.9.3037-3048.2000 http://dx.doi.org/10.1128/MCB.20.9.3037-3048.2000 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AJ276003 http://www.ebi.ac.uk/ena/data/view/AJ276003 EMBL AY780787 http://www.ebi.ac.uk/ena/data/view/AY780787 EMBL BC003413 http://www.ebi.ac.uk/ena/data/view/BC003413 Ensembl ENST00000226796 http://www.ensembl.org/id/ENST00000226796 Ensembl ENST00000394631 http://www.ensembl.org/id/ENST00000394631 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000784 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000784 GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GO_component GO:0005697 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005697 GO_component GO:0005730 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005730 GO_component GO:0031429 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031429 GO_component GO:0072589 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0072589 GO_component GO:0090661 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090661 GO_function GO:0005261 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005261 GO_function GO:0034513 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034513 GO_function GO:0044822 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044822 GO_function GO:0070034 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070034 GO_process GO:0000454 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000454 GO_process GO:0007004 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007004 GO_process GO:0031118 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031118 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GOslim_component GO:0005730 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005730 GOslim_function GO:0003723 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003723 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006259 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006259 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0051276 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051276 GeneCards GAR1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=GAR1 GeneID 54433 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=54433 GeneTree ENSGT00730000111223 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00730000111223 HGNC HGNC:14264 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:14264 HOGENOM HOG000112695 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000112695&db=HOGENOM6 HPA HPA059098 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA059098 InParanoid Q9NY12 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9NY12 IntAct Q9NY12 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9NY12* InterPro IPR007504 http://www.ebi.ac.uk/interpro/entry/IPR007504 InterPro IPR009000 http://www.ebi.ac.uk/interpro/entry/IPR009000 InterPro IPR021154 http://www.ebi.ac.uk/interpro/entry/IPR021154 Jabion 54433 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=54433 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00002 http://www.genome.jp/dbget-bin/www_bget?ko00002 KEGG_Brite ko03009 http://www.genome.jp/dbget-bin/www_bget?ko03009 KEGG_Brite ko03009 http://www.genome.jp/dbget-bin/www_bget?ko03009 KEGG_Brite ko03032 http://www.genome.jp/dbget-bin/www_bget?ko03032 KEGG_Brite ko03032 http://www.genome.jp/dbget-bin/www_bget?ko03032 KEGG_Gene hsa:54433 http://www.genome.jp/dbget-bin/www_bget?hsa:54433 KEGG_Orthology KO:K11128 http://www.genome.jp/dbget-bin/www_bget?KO:K11128 KEGG_Pathway ko03008 http://www.genome.jp/kegg-bin/show_pathway?ko03008 MIM 606468 http://www.ncbi.nlm.nih.gov/omim/606468 MINT MINT-207666 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-207666 OMA HFNAQIF http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=HFNAQIF OrthoDB EOG091G0Z6Z http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0Z6Z PANTHER PTHR23237 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR23237 PSORT swissprot:GAR1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:GAR1_HUMAN PSORT-B swissprot:GAR1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:GAR1_HUMAN PSORT2 swissprot:GAR1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:GAR1_HUMAN Pfam PF04410 http://pfam.xfam.org/family/PF04410 PharmGKB PA164720194 http://www.pharmgkb.org/do/serve?objId=PA164720194&objCls=Gene Phobius swissprot:GAR1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:GAR1_HUMAN PhylomeDB Q9NY12 http://phylomedb.org/?seqid=Q9NY12 ProteinModelPortal Q9NY12 http://www.proteinmodelportal.org/query/uniprot/Q9NY12 PubMed 10757788 http://www.ncbi.nlm.nih.gov/pubmed/10757788 PubMed 11509230 http://www.ncbi.nlm.nih.gov/pubmed/11509230 PubMed 11790298 http://www.ncbi.nlm.nih.gov/pubmed/11790298 PubMed 12244096 http://www.ncbi.nlm.nih.gov/pubmed/12244096 PubMed 15044956 http://www.ncbi.nlm.nih.gov/pubmed/15044956 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 19179534 http://www.ncbi.nlm.nih.gov/pubmed/19179534 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 Reactome R-HSA-6790901 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6790901 RefSeq NP_061856 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_061856 RefSeq NP_127460 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_127460 SMR Q9NY12 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9NY12 STRING 9606.ENSP00000226796 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000226796&targetmode=cogs SUPFAM SSF50447 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF50447 UCSC uc003hzt http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003hzt&org=rat UniGene Hs.69851 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.69851 UniProtKB GAR1_HUMAN http://www.uniprot.org/uniprot/GAR1_HUMAN UniProtKB-AC Q9NY12 http://www.uniprot.org/uniprot/Q9NY12 charge swissprot:GAR1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:GAR1_HUMAN eggNOG COG3277 http://eggnogapi.embl.de/nog_data/html/tree/COG3277 eggNOG KOG3262 http://eggnogapi.embl.de/nog_data/html/tree/KOG3262 epestfind swissprot:GAR1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:GAR1_HUMAN garnier swissprot:GAR1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:GAR1_HUMAN helixturnhelix swissprot:GAR1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:GAR1_HUMAN hmoment swissprot:GAR1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:GAR1_HUMAN iep swissprot:GAR1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:GAR1_HUMAN inforesidue swissprot:GAR1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:GAR1_HUMAN neXtProt NX_Q9NY12 http://www.nextprot.org/db/entry/NX_Q9NY12 octanol swissprot:GAR1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:GAR1_HUMAN pepcoil swissprot:GAR1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:GAR1_HUMAN pepdigest swissprot:GAR1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:GAR1_HUMAN pepinfo swissprot:GAR1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:GAR1_HUMAN pepnet swissprot:GAR1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:GAR1_HUMAN pepstats swissprot:GAR1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:GAR1_HUMAN pepwheel swissprot:GAR1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:GAR1_HUMAN pepwindow swissprot:GAR1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:GAR1_HUMAN sigcleave swissprot:GAR1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:GAR1_HUMAN ## Database ID URL or Descriptions # AltName KCMB4_HUMAN BK channel subunit beta-4 # AltName KCMB4_HUMAN Calcium-activated potassium channel, subfamily M subunit beta-4 # AltName KCMB4_HUMAN Charybdotoxin receptor subunit beta-4 # AltName KCMB4_HUMAN K(VCA)beta-4 # AltName KCMB4_HUMAN Maxi K channel subunit beta-4 # AltName KCMB4_HUMAN Slo-beta-4 # ChiTaRS KCNMB4 human # DOMAIN KCMB4_HUMAN Resistance to charybdotoxin (CTX) toxin is mediated by the extracellular domain. # DrugBank DB00721 Procaine # DrugBank DB01110 Miconazole # Ensembl ENST00000258111 ENSP00000258111; ENSG00000135643 # ExpressionAtlas Q86W47 baseline and differential # FUNCTION KCMB4_HUMAN Regulatory subunit of the calcium activated potassium KCNMA1 (maxiK) channel. Modulates the calcium sensitivity and gating kinetics of KCNMA1, thereby contributing to KCNMA1 channel diversity. Decreases the gating kinetics and calcium sensitivity of the KCNMA1 channel, but with fast deactivation kinetics. May decrease KCNMA1 channel openings at low calcium concentrations but increases channel openings at high calcium concentrations. Makes KCNMA1 channel resistant to 100 nM charybdotoxin (CTX) toxin concentrations. {ECO 0000269|PubMed 10692449, ECO 0000269|PubMed 10792058, ECO 0000269|PubMed 10828459}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IDA:UniProtKB. # GO_component GO:0008076 voltage-gated potassium channel complex; IDA:UniProtKB. # GO_function GO:0015269 calcium-activated potassium channel activity; IDA:UniProtKB. # GO_function GO:0015459 potassium channel regulator activity; IBA:GO_Central. # GO_process GO:0001508 action potential; IDA:UniProtKB. # GO_process GO:0005513 detection of calcium ion; IDA:UniProtKB. # GO_process GO:0006813 potassium ion transport; IDA:UniProtKB. # GO_process GO:0007268 chemical synaptic transmission; TAS:ProtInc. # GO_process GO:0019228 neuronal action potential; IDA:UniProtKB. # GO_process GO:0019229 regulation of vasoconstriction; TAS:UniProtKB. # GO_process GO:0046928 regulation of neurotransmitter secretion; TAS:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0003013 circulatory system process # GOslim_process GO:0006810 transport # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # Genevisible Q86W47 HS # HGNC HGNC:6289 KCNMB4 # InterPro IPR003930 K_chnl_Ca-activ_BK_bsu # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04270 Vascular smooth muscle contraction # MIM 605223 gene # MISCELLANEOUS KCMB4_HUMAN Treatment with okadaic acid reduces its effect on KCNMA1. # Organism KCMB4_HUMAN Homo sapiens (Human) # PANTHER PTHR10258 PTHR10258 # PTM KCMB4_HUMAN N-glycosylated. A highly glycosylated form is promoted by KCNMA1. Glycosylation, which is not required for the interaction with KCNMA1 and subcellular location, increases protection against charybdotoxin. {ECO 0000269|PubMed 10792058, ECO 0000269|PubMed 12223479}. # PTM KCMB4_HUMAN Phosphorylated. Phosphorylation modulates its effect on KCNMA1 activation kinetics. {ECO 0000269|PubMed 11790768}. # Pfam PF03185 CaKB # Proteomes UP000005640 Chromosome 12 # Reactome R-HSA-1296052 Ca2+ activated K+ channels # Reactome R-HSA-418457 cGMP effects # RecName KCMB4_HUMAN Calcium-activated potassium channel subunit beta-4 # RefSeq NP_055320 NM_014505.5 # SIMILARITY Belongs to the KCNMB (TC 8.A.14.1) family. KCNMB4 subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION KCMB4_HUMAN Membrane; Multi-pass membrane protein. # SUBUNIT KCMB4_HUMAN Interacts with KCNMA1 tetramer (PubMed 10692449, PubMed 10804197). There are probably 4 molecules of KCMNB4 per KCNMA1 tetramer (PubMed 10692449, PubMed 10804197). Interacts with FMR1 (via N-terminus) (PubMed 25561520). {ECO 0000269|PubMed 10692449, ECO 0000269|PubMed 10804197, ECO 0000269|PubMed 25561520}. # TISSUE SPECIFICITY KCMB4_HUMAN Predominantly expressed in brain. In brain, it is expressed in the cerebellum, cerebral cortex, medulla, spinal cord, occipital pole, frontal lobe, temporal lobe, putamen, amygdala, caudate nucleus, corpus callosum, hippocampus, substantia nigra and thalamus. Weakly or not expressed in other tissues. {ECO 0000269|PubMed 10692449, ECO 0000269|PubMed 10828459}. # UCSC uc001svx human # eggNOG ENOG410IJVB Eukaryota # eggNOG ENOG410XSTD LUCA BLAST swissprot:KCMB4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCMB4_HUMAN COXPRESdb 27345 http://coxpresdb.jp/data/gene/27345.shtml CleanEx HS_KCNMB4 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNMB4 DOI 10.1016/S0014-5793(00)01584-2 http://dx.doi.org/10.1016/S0014-5793(00)01584-2 DOI 10.1073/pnas.100118597 http://dx.doi.org/10.1073/pnas.100118597 DOI 10.1073/pnas.1423094112 http://dx.doi.org/10.1073/pnas.1423094112 DOI 10.1074/jbc.275.9.6453 http://dx.doi.org/10.1074/jbc.275.9.6453 DOI 10.1074/jbc.M107682200 http://dx.doi.org/10.1074/jbc.M107682200 DOI 10.1074/jbc.M205795200 http://dx.doi.org/10.1074/jbc.M205795200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1152/nips.01387.2002 http://dx.doi.org/10.1152/nips.01387.2002 DrugBank DB00721 http://www.drugbank.ca/drugs/DB00721 DrugBank DB01110 http://www.drugbank.ca/drugs/DB01110 EMBL AF160967 http://www.ebi.ac.uk/ena/data/view/AF160967 EMBL AF170917 http://www.ebi.ac.uk/ena/data/view/AF170917 EMBL AF207992 http://www.ebi.ac.uk/ena/data/view/AF207992 EMBL AF215891 http://www.ebi.ac.uk/ena/data/view/AF215891 EMBL BC042446 http://www.ebi.ac.uk/ena/data/view/BC042446 EMBL BC050621 http://www.ebi.ac.uk/ena/data/view/BC050621 Ensembl ENST00000258111 http://www.ensembl.org/id/ENST00000258111 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0008076 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008076 GO_function GO:0015269 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015269 GO_function GO:0015459 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015459 GO_process GO:0001508 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001508 GO_process GO:0005513 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005513 GO_process GO:0006813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006813 GO_process GO:0007268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007268 GO_process GO:0019228 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019228 GO_process GO:0019229 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019229 GO_process GO:0046928 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046928 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0003013 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003013 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GeneCards KCNMB4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNMB4 GeneID 27345 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=27345 GeneTree ENSGT00390000015997 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000015997 HGNC HGNC:6289 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6289 HOGENOM HOG000113205 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000113205&db=HOGENOM6 HOVERGEN HBG052224 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052224&db=HOVERGEN HPA HPA072287 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA072287 InParanoid Q86W47 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q86W47 InterPro IPR003930 http://www.ebi.ac.uk/interpro/entry/IPR003930 Jabion 27345 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=27345 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:27345 http://www.genome.jp/dbget-bin/www_bget?hsa:27345 KEGG_Orthology KO:K04941 http://www.genome.jp/dbget-bin/www_bget?KO:K04941 KEGG_Pathway ko04270 http://www.genome.jp/kegg-bin/show_pathway?ko04270 MIM 605223 http://www.ncbi.nlm.nih.gov/omim/605223 OMA ISEVFEC http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=ISEVFEC OrthoDB EOG091G0MVO http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0MVO PANTHER PTHR10258 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10258 PSORT swissprot:KCMB4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCMB4_HUMAN PSORT-B swissprot:KCMB4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCMB4_HUMAN PSORT2 swissprot:KCMB4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCMB4_HUMAN Pfam PF03185 http://pfam.xfam.org/family/PF03185 PharmGKB PA30069 http://www.pharmgkb.org/do/serve?objId=PA30069&objCls=Gene Phobius swissprot:KCMB4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCMB4_HUMAN PhylomeDB Q86W47 http://phylomedb.org/?seqid=Q86W47 ProteinModelPortal Q86W47 http://www.proteinmodelportal.org/query/uniprot/Q86W47 PubMed 10692449 http://www.ncbi.nlm.nih.gov/pubmed/10692449 PubMed 10792058 http://www.ncbi.nlm.nih.gov/pubmed/10792058 PubMed 10804197 http://www.ncbi.nlm.nih.gov/pubmed/10804197 PubMed 10828459 http://www.ncbi.nlm.nih.gov/pubmed/10828459 PubMed 11790768 http://www.ncbi.nlm.nih.gov/pubmed/11790768 PubMed 12136044 http://www.ncbi.nlm.nih.gov/pubmed/12136044 PubMed 12223479 http://www.ncbi.nlm.nih.gov/pubmed/12223479 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 25561520 http://www.ncbi.nlm.nih.gov/pubmed/25561520 Reactome R-HSA-1296052 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1296052 Reactome R-HSA-418457 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-418457 RefSeq NP_055320 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_055320 STRING 9606.ENSP00000258111 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000258111&targetmode=cogs UCSC uc001svx http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001svx&org=rat UniGene Hs.525529 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.525529 UniProtKB KCMB4_HUMAN http://www.uniprot.org/uniprot/KCMB4_HUMAN UniProtKB-AC Q86W47 http://www.uniprot.org/uniprot/Q86W47 charge swissprot:KCMB4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCMB4_HUMAN eggNOG ENOG410IJVB http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IJVB eggNOG ENOG410XSTD http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XSTD epestfind swissprot:KCMB4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCMB4_HUMAN garnier swissprot:KCMB4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCMB4_HUMAN helixturnhelix swissprot:KCMB4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCMB4_HUMAN hmoment swissprot:KCMB4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCMB4_HUMAN iep swissprot:KCMB4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCMB4_HUMAN inforesidue swissprot:KCMB4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCMB4_HUMAN neXtProt NX_Q86W47 http://www.nextprot.org/db/entry/NX_Q86W47 octanol swissprot:KCMB4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCMB4_HUMAN pepcoil swissprot:KCMB4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCMB4_HUMAN pepdigest swissprot:KCMB4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCMB4_HUMAN pepinfo swissprot:KCMB4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCMB4_HUMAN pepnet swissprot:KCMB4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCMB4_HUMAN pepstats swissprot:KCMB4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCMB4_HUMAN pepwheel swissprot:KCMB4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCMB4_HUMAN pepwindow swissprot:KCMB4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCMB4_HUMAN sigcleave swissprot:KCMB4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCMB4_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS EAA5_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O00341-1; Sequence=Displayed; Name=2; IsoId=O00341-2; Sequence=VSP_056560, VSP_056561; Note=No experimental confirmation available.; # AltName EAA5_HUMAN Retinal glutamate transporter # AltName EAA5_HUMAN Solute carrier family 1 member 7 # BioGrid 112403 2 # CCDS CCDS574 -. [O00341-1] # CCDS CCDS72798 -. [O00341-2] # Ensembl ENST00000371491 ENSP00000360546; ENSG00000162383. [O00341-2] # Ensembl ENST00000371494 ENSP00000360549; ENSG00000162383. [O00341-1] # ExpressionAtlas O00341 baseline and differential # FUNCTION EAA5_HUMAN Transports L-glutamate; the L-glutamate uptake is sodium- and voltage-dependent and chloride-independent. Its associated chloride conductance may participate in visual processing. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0005313 L-glutamate transmembrane transporter activity; TAS:UniProtKB. # GO_function GO:0005314 high-affinity glutamate transmembrane transporter activity; TAS:Reactome. # GO_function GO:0015171 amino acid transmembrane transporter activity; TAS:Reactome. # GO_process GO:0006811 ion transport; TAS:Reactome. # GO_process GO:0006835 dicarboxylic acid transport; TAS:UniProtKB. # GO_process GO:0014047 glutamate secretion; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # Gene3D 1.10.3860.10 -; 2. # Genevisible O00341 HS # HGNC HGNC:10945 SLC1A7 # InterPro IPR001991 Na-dicarboxylate_symporter # InterPro IPR018107 Na-dicarboxylate_symporter_CS # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02001 Solute carrier family # KEGG_Pathway ko04724 Glutamatergic synapse # MIM 604471 gene # Organism EAA5_HUMAN Homo sapiens (Human) # PANTHER PTHR11958 PTHR11958; 3 # PRINTS PR00173 EDTRNSPORT # PROSITE PS00713 NA_DICARBOXYL_SYMP_1 # PROSITE PS00714 NA_DICARBOXYL_SYMP_2 # Pfam PF00375 SDF # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-210500 Glutamate Neurotransmitter Release Cycle # Reactome R-HSA-425393 Transport of inorganic cations/anions and amino acids/oligopeptides # RecName EAA5_HUMAN Excitatory amino acid transporter 5 # RefSeq NP_001274525 NM_001287596.1. [O00341-2] # RefSeq NP_001274526 NM_001287597.1 # RefSeq NP_006662 NM_006671.5. [O00341-1] # SIMILARITY Belongs to the dicarboxylate/amino acid:cation symporter (DAACS) (TC 2.A.23) family. SLC1A7 subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION EAA5_HUMAN Membrane; Multi-pass membrane protein. # SUBUNIT EAA5_HUMAN Interacts with the PDZ domains of DLG4. # SUPFAM SSF118215 SSF118215; 2 # TCDB 2.A.23.2:the dicarboxylate/amino acid cation (na(+) or h(+)) symporter (daacs) family # TISSUE SPECIFICITY EAA5_HUMAN Expressed primarily in retina. Detectable in liver, heart, muscle and brain. # UCSC uc001cuy human. [O00341-1] # eggNOG COG1301 LUCA # eggNOG KOG3787 Eukaryota BLAST swissprot:EAA5_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:EAA5_HUMAN BioCyc ZFISH:ENSG00000162383-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000162383-MONOMER COXPRESdb 6512 http://coxpresdb.jp/data/gene/6512.shtml CleanEx HS_SLC1A7 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC1A7 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1073/pnas.94.8.4155 http://dx.doi.org/10.1073/pnas.94.8.4155 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1133427 http://dx.doi.org/10.1126/science.1133427 EMBL AL445183 http://www.ebi.ac.uk/ena/data/view/AL445183 EMBL BC000651 http://www.ebi.ac.uk/ena/data/view/BC000651 EMBL BC012119 http://www.ebi.ac.uk/ena/data/view/BC012119 EMBL BC017242 http://www.ebi.ac.uk/ena/data/view/BC017242 EMBL CH471059 http://www.ebi.ac.uk/ena/data/view/CH471059 EMBL CH471059 http://www.ebi.ac.uk/ena/data/view/CH471059 EMBL U76362 http://www.ebi.ac.uk/ena/data/view/U76362 Ensembl ENST00000371491 http://www.ensembl.org/id/ENST00000371491 Ensembl ENST00000371494 http://www.ensembl.org/id/ENST00000371494 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005313 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005313 GO_function GO:0005314 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005314 GO_function GO:0015171 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015171 GO_process GO:0006811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006811 GO_process GO:0006835 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006835 GO_process GO:0014047 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014047 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 Gene3D 1.10.3860.10 http://www.cathdb.info/version/latest/superfamily/1.10.3860.10 GeneCards SLC1A7 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC1A7 GeneID 6512 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6512 GeneTree ENSGT00760000119117 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119117 H-InvDB HIX0000592 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0000592 H-InvDB HIX0159667 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0159667 HGNC HGNC:10945 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10945 HOGENOM HOG000208776 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000208776&db=HOGENOM6 HOVERGEN HBG000080 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG000080&db=HOVERGEN HPA HPA049124 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA049124 InParanoid O00341 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O00341 IntAct O00341 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O00341* InterPro IPR001991 http://www.ebi.ac.uk/interpro/entry/IPR001991 InterPro IPR018107 http://www.ebi.ac.uk/interpro/entry/IPR018107 Jabion 6512 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6512 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:6512 http://www.genome.jp/dbget-bin/www_bget?hsa:6512 KEGG_Orthology KO:K05618 http://www.genome.jp/dbget-bin/www_bget?KO:K05618 KEGG_Pathway ko04724 http://www.genome.jp/kegg-bin/show_pathway?ko04724 MIM 604471 http://www.ncbi.nlm.nih.gov/omim/604471 PANTHER PTHR11958 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11958 PRINTS PR00173 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00173 PROSITE PS00713 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00713 PROSITE PS00714 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00714 PSORT swissprot:EAA5_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:EAA5_HUMAN PSORT-B swissprot:EAA5_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:EAA5_HUMAN PSORT2 swissprot:EAA5_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:EAA5_HUMAN Pfam PF00375 http://pfam.xfam.org/family/PF00375 PharmGKB PA35832 http://www.pharmgkb.org/do/serve?objId=PA35832&objCls=Gene Phobius swissprot:EAA5_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:EAA5_HUMAN PhylomeDB O00341 http://phylomedb.org/?seqid=O00341 ProteinModelPortal O00341 http://www.proteinmodelportal.org/query/uniprot/O00341 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 16959974 http://www.ncbi.nlm.nih.gov/pubmed/16959974 PubMed 9108121 http://www.ncbi.nlm.nih.gov/pubmed/9108121 Reactome R-HSA-210500 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-210500 Reactome R-HSA-425393 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-425393 RefSeq NP_001274525 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001274525 RefSeq NP_001274526 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001274526 RefSeq NP_006662 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_006662 STRING 9606.ENSP00000360549 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000360549&targetmode=cogs SUPFAM SSF118215 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF118215 TCDB 2.A.23.2 http://www.tcdb.org/search/result.php?tc=2.A.23.2 UCSC uc001cuy http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001cuy&org=rat UniGene Hs.104637 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.104637 UniProtKB EAA5_HUMAN http://www.uniprot.org/uniprot/EAA5_HUMAN UniProtKB-AC O00341 http://www.uniprot.org/uniprot/O00341 charge swissprot:EAA5_HUMAN http://rest.g-language.org/emboss/charge/swissprot:EAA5_HUMAN eggNOG COG1301 http://eggnogapi.embl.de/nog_data/html/tree/COG1301 eggNOG KOG3787 http://eggnogapi.embl.de/nog_data/html/tree/KOG3787 epestfind swissprot:EAA5_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:EAA5_HUMAN garnier swissprot:EAA5_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:EAA5_HUMAN helixturnhelix swissprot:EAA5_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:EAA5_HUMAN hmoment swissprot:EAA5_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:EAA5_HUMAN iep swissprot:EAA5_HUMAN http://rest.g-language.org/emboss/iep/swissprot:EAA5_HUMAN inforesidue swissprot:EAA5_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:EAA5_HUMAN neXtProt NX_O00341 http://www.nextprot.org/db/entry/NX_O00341 octanol swissprot:EAA5_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:EAA5_HUMAN pepcoil swissprot:EAA5_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:EAA5_HUMAN pepdigest swissprot:EAA5_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:EAA5_HUMAN pepinfo swissprot:EAA5_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:EAA5_HUMAN pepnet swissprot:EAA5_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:EAA5_HUMAN pepstats swissprot:EAA5_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:EAA5_HUMAN pepwheel swissprot:EAA5_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:EAA5_HUMAN pepwindow swissprot:EAA5_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:EAA5_HUMAN sigcleave swissprot:EAA5_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:EAA5_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=eAE1, Erythrocyte; IsoId=P02730-1; Sequence=Displayed; Name=2 {ECO:0000269|PubMed 7506871}; Synonyms=kAE1, Kidney; IsoId=P02730-2; Sequence=VSP_057833; # AltName B3AT_HUMAN Anion exchange protein 1 # AltName B3AT_HUMAN CD233 # AltName B3AT_HUMAN Solute carrier family 4 member 1 # BioGrid 112412 11 # CCDS CCDS11481 -. [P02730-1] # ChiTaRS SLC4A1 human # DISEASE B3AT_HUMAN Cryohydrocytosis (CHC) [MIM 185020] An autosomal dominant disorder of red cell membrane permeability characterized by cold-induced changes in cell volume, resulting in cold- sensitive stomatocytosis, and increased erythrocyte osmotic fragility and autohemolysis at 4 degrees Celsius. Patients present with mild to moderate hemolytic anemia, splenomegaly, fatigue, and pseudohyperkalemia due to a potassium leak from the erythrocytes. {ECO 0000269|PubMed 16227998}. Note=The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry. # DISEASE B3AT_HUMAN Ovalocytosis, Southeast Asian (SAO) [MIM 166900] A hereditary hematologic disorder characterized by ovalocytic erythrocytes that are rigid and exhibit reduced expression of many erythrocyte antigens. Clinical manifestations include mild hemolysis, intermittent jaundice and gallstones. However, the disorder is most often asymptomatic. {ECO 0000269|PubMed 1538405, ECO 0000269|PubMed 1722314}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE B3AT_HUMAN Renal tubular acidosis, distal, autosomal dominant (AD- dRTA) [MIM 179800] An autosomal dominant disease characterized by reduced ability to acidify urine, variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis. It is due to functional failure of alpha- intercalated cells of the cortical collecting duct of the distal nephron, where vectorial proton transport is required for urinary acidification. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE B3AT_HUMAN Renal tubular acidosis, distal, with hemolytic anemia (dRTA-HA) [MIM 611590] A disease characterized by the association of hemolytic anemia with distal renal tubular acidosis, the reduced ability to acidify urine resulting in variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis. {ECO 0000269|PubMed 10926824, ECO 0000269|PubMed 15211439, ECO 0000269|PubMed 9854053}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE B3AT_HUMAN Renal tubular acidosis, distal, with normal red cell morphology (dRTA-NRC) [MIM 611590] A disease characterized by reduced ability to acidify urine, variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis. It is due to functional failure of alpha- intercalated cells of the cortical collecting duct of the distal nephron, where vectorial proton transport is required for urinary acidification. {ECO 0000269|PubMed 15211439}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE B3AT_HUMAN Spherocytosis 4 (SPH4) [MIM 612653] Spherocytosis is a hematologic disorder leading to chronic hemolytic anemia and characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. {ECO 0000269|PubMed 10580570, ECO 0000269|PubMed 10745622, ECO 0000269|PubMed 10942416, ECO 0000269|PubMed 11380459, ECO 0000269|PubMed 1378323, ECO 0000269|PubMed 15813913, ECO 0000269|PubMed 16227998, ECO 0000269|PubMed 7530501, ECO 0000269|PubMed 8547122, ECO 0000269|PubMed 8640229, ECO 0000269|PubMed 8943874, ECO 0000269|PubMed 9012689, ECO 0000269|PubMed 9207478, ECO 0000269|PubMed 9233560, ECO 0000269|PubMed 9973643}. Note=The disease is caused by mutations affecting the gene represented in this entry. # ENZYME REGULATION B3AT_HUMAN Phenyl isothiocyanate inhibits anion transport in vitro. # Ensembl ENST00000262418 ENSP00000262418; ENSG00000004939. [P02730-1] # ExpressionAtlas P02730 baseline and differential # FUNCTION B3AT_HUMAN Functions both as a transporter that mediates electroneutral anion exchange across the cell membrane and as a structural protein. Major integral membrane glycoprotein of the erythrocyte membrane; required for normal flexibility and stability of the erythrocyte membrane and for normal erythrocyte shape via the interactions of its cytoplasmic domain with cytoskeletal proteins, glycolytic enzymes, and hemoglobin. Functions as a transporter that mediates the 1 1 exchange of inorganic anions across the erythrocyte membrane. Mediates chloride-bicarbonate exchange in the kidney, and is required for normal acidification of the urine. {ECO 0000269|PubMed 10926824, ECO 0000269|PubMed 14734552, ECO 0000269|PubMed 1538405, ECO 0000269|PubMed 20151848, ECO 0000269|PubMed 24121512}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; NAS:UniProtKB. # GO_component GO:0016323 basolateral plasma membrane; IDA:UniProtKB. # GO_component GO:0030018 Z disc; ISS:UniProtKB. # GO_component GO:0030863 cortical cytoskeleton; IDA:UniProtKB. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_component GO:0072562 blood microparticle; IDA:UniProtKB. # GO_function B3AT_HUMAN GO 0015301 anion anion antiporter activity; IDA UniProtKB. # GO_function GO:0005452 inorganic anion exchanger activity; IDA:UniProtKB. # GO_function GO:0008509 anion transmembrane transporter activity; TAS:ProtInc. # GO_function GO:0015106 bicarbonate transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0015108 chloride transmembrane transporter activity; ISS:UniProtKB. # GO_function GO:0030506 ankyrin binding; IPI:BHF-UCL. # GO_function GO:0042803 protein homodimerization activity; IPI:BHF-UCL. # GO_function GO:0043495 protein anchor; TAS:BHF-UCL. # GO_process GO:0006820 anion transport; IDA:UniProtKB. # GO_process GO:0006821 chloride transport; ISS:UniProtKB. # GO_process GO:0006873 cellular ion homeostasis; TAS:ProtInc. # GO_process GO:0015701 bicarbonate transport; IDA:UniProtKB. # GO_process GO:0051453 regulation of intracellular pH; IBA:GO_Central. # GO_process GO:1902476 chloride transmembrane transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005856 cytoskeleton # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0008092 cytoskeletal protein binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 3.40.1100.10 -; 1. # Genevisible P02730 HS # HGNC HGNC:11027 SLC4A1 # INTERACTION B3AT_HUMAN P05026 ATP1B1; NbExp=8; IntAct=EBI-7576138, EBI-714630; A5K5E5 PVX_088820 (xeno); NbExp=8; IntAct=EBI-7576138, EBI-11621504; # IntAct P02730 5 # InterPro IPR001717 Anion_exchange # InterPro IPR002977 Anion_exchange_1 # InterPro IPR003020 HCO3_transpt_euk # InterPro IPR011531 HCO3_transpt_C # InterPro IPR013769 Band3_cytoplasmic_dom # InterPro IPR016152 PTrfase/Anion_transptr # InterPro IPR018241 Anion_exchange_CS # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02001 Solute carrier family # KEGG_Brite ko04090 Cellular antigens # KEGG_Disease H00230 [Hematologic disease] Hereditary spherocytosis (SPH) # KEGG_Disease H00231 [Hematologic disease] Hereditary elliptocytosis (HE) # KEGG_Disease H00232 [Hematologic disease] Familial pseudohyperkalemia (FP) # KEGG_Disease H00428 [Urinary system disease] Distal renal tubular acidosis (RTA type 1) # KEGG_Pathway ko04966 Collecting duct acid secretion # MIM 109270 gene+phenotype # MIM 110500 phenotype # MIM 112010 phenotype # MIM 112050 phenotype # MIM 130600 phenotype # MIM 166900 phenotype # MIM 179800 phenotype # MIM 185020 phenotype # MIM 601550 phenotype # MIM 601551 phenotype # MIM 611162 phenotype # MIM 611590 phenotype # MIM 612653 phenotype # Organism B3AT_HUMAN Homo sapiens (Human) # Orphanet 398088 Hereditary cryohydrocytosis with normal stomatin # Orphanet 822 Hereditary spherocytosis # Orphanet 93608 Autosomal dominant distal renal tubular acidosis # Orphanet 93610 Distal renal tubular acidosis with anemia # Orphanet 98868 Southeast Asian ovalocytosis # PANTHER PTHR11453 PTHR11453 # PDB 1BH7 NMR; -; A=803-835 # PDB 1BNX NMR; -; A=389-430 # PDB 1BTQ NMR; -; A=405-424 # PDB 1BTR NMR; -; A=405-424 # PDB 1BTS NMR; -; A=436-456 # PDB 1BTT NMR; -; A=436-456 # PDB 1BZK NMR; -; A=389-430 # PDB 1HYN X-ray; 2.60 A; P/Q/R/S=1-379 # PDB 2BTA NMR; -; A=1-15 # PDB 2BTB NMR; -; A=1-15 # PDB 3BTB NMR; -; A=1-15 # PDB 4KY9 X-ray; 2.23 A; A/P=51-356 # PDB 4YZF X-ray; 3.50 A; A/B/C/D=1-911 # PIR A36218 B3HU # POLYMORPHISM B3AT_HUMAN SLC4A1 is responsible for the Diego blood group system. The molecular basis of the Di(a)=Di1/Di(b)/Di2 blood group antigens is a single variation in position 854; Leu-854 corresponds to Di(a) and Pro-854 to Di(b). The molecular basis of the Wr(a)=Di3/Wr(b)/Di4 blood group antigens is a single variation in position 658; Lys-658 corresponds to Wr(a) and Glu-658 to Wr(b). The blood group antigens Wd(a)=Di5 (Waldner-type) has Met- 557; Rb(a)=Di6 has Leu-548 and WARR=Di7 has Ile-552. # POLYMORPHISM Genetic variations in SLC4A1 are involved in resistance to malaria [MIM 611162]. # POLYMORPHISM SLC4A1 is responsible for the Froese blood group system (FR) [MIM 601551]. FR(a+) has a Lys at position 480 and FR(a-) has a Glu. # POLYMORPHISM SLC4A1 is responsible for the Swann blood group system (SW) [MIM 601550]. Sw(a+) has a Gln or a Trp at position 646 and Sw(a-) has an Arg. # PRINTS PR00165 ANIONEXCHNGR # PRINTS PR01187 ANIONEXHNGR1 # PRINTS PR01231 HCO3TRNSPORT # PROSITE PS00219 ANION_EXCHANGER_1 # PROSITE PS00220 ANION_EXCHANGER_2 # PTM B3AT_HUMAN N-glycosylated. {ECO 0000269|PubMed 26542571}. # PTM B3AT_HUMAN Phosphorylated on Tyr-359 and Tyr-904 most likely by LYN. PP1-inhibited phosphorylation that follows Tyr-8 and Tyr-21 phosphorylation. {ECO 0000269|PubMed 10942405, ECO 0000269|PubMed 1998697}. # PTM B3AT_HUMAN Phosphorylated on Tyr-8 and Tyr-21 most likely by SYK. PP1- resistant phosphorylation that precedes Tyr-359 and Tyr-904 phosphorylation. {ECO 0000269|PubMed 10942405, ECO 0000269|PubMed 1998697}. # Pfam PF00955 HCO3_cotransp; 2 # Pfam PF07565 Band_3_cyto # Proteomes UP000005640 Chromosome 17 # Reactome R-HSA-1237044 Erythrocytes take up carbon dioxide and release oxygen # Reactome R-HSA-1247673 Erythrocytes take up oxygen and release carbon dioxide # Reactome R-HSA-425381 Bicarbonate transporters # RecName B3AT_HUMAN Band 3 anion transport protein # RefSeq NP_000333 NM_000342.3. [P02730-1] # RefSeq XP_005257650 XM_005257593.4. [P02730-2] # SIMILARITY Belongs to the anion exchanger (TC 2.A.31) family. {ECO 0000305}. # SUBCELLULAR LOCATION B3AT_HUMAN Cell membrane {ECO 0000269|PubMed 10926824, ECO 0000269|PubMed 24121512, ECO 0000269|PubMed 26542571, ECO 0000269|PubMed 7506871}; Multi-pass membrane protein {ECO 0000269|PubMed 26542571}. Basolateral cell membrane {ECO 0000269|PubMed 7506871}; Multi-pass membrane protein {ECO 0000269|PubMed 7506871}. Note=Detected in the erythrocyte cell membrane and on the basolateral membrane of alpha- intercalated cells in the collecting duct in the kidney. {ECO 0000269|PubMed 7506871}. # SUBUNIT B3AT_HUMAN A dimer in solution, but in its membrane environment, it exists primarily as a mixture of dimers and tetramers and spans the membrane asymmetrically. Interacts (via cytoplasmic N-terminal domain) with ANK1 (via N-terminal ANK repeats); tetramer formation is critical for ankyrin association. Interacts with STOM. Isoform 2 interacts with TM139 (PubMed 26049106). {ECO 0000269|PubMed 11049968, ECO 0000269|PubMed 20151848, ECO 0000269|PubMed 23219802, ECO 0000269|PubMed 26049106, ECO 0000269|PubMed 7665627}. # SUPFAM SSF55804 SSF55804 # TCDB 2.A.31.1 the anion exchanger (ae) family # TIGRFAMs TIGR00834 ae # TISSUE SPECIFICITY B3AT_HUMAN Detected in erythrocytes (at protein level) (PubMed 7506871, PubMed 26542571). Isoform 2 is expressed in kidney (at protein level) (PubMed 7506871). {ECO 0000269|PubMed 10926824, ECO 0000269|PubMed 1538405, ECO 0000269|PubMed 23219802, ECO 0000269|PubMed 26542571, ECO 0000269|PubMed 7506871}. # UCSC uc002igf human. [P02730-1] # WEB RESOURCE B3AT_HUMAN Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http //atlasgeneticsoncology.org/Genes/SLC4A1ID42325ch17q21.html"; # WEB RESOURCE B3AT_HUMAN Name=SeattleSNPs; URL="http //pga.gs.washington.edu/data/slc4a1/"; # WEB RESOURCE B3AT_HUMAN Name=Wikipedia; Note=Band 3 entry; URL="https //en.wikipedia.org/wiki/Band_3"; # WEB RESOURCE B3AT_HUMAN Name=dbRBC/BGMUT; Note=Blood group antigen gene mutation database; URL="https //www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/systems_info&system=diego"; # eggNOG ENOG410XPHD LUCA # eggNOG KOG1172 Eukaryota BLAST swissprot:B3AT_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:B3AT_HUMAN BioCyc ZFISH:ENSG00000004939-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000004939-MONOMER COXPRESdb 6521 http://coxpresdb.jp/data/gene/6521.shtml DIP DIP-42428N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-42428N DOI 10.1007/s00467-005-2061-z http://dx.doi.org/10.1007/s00467-005-2061-z DOI 10.1016/0005-2736(91)90291-F http://dx.doi.org/10.1016/0005-2736(91)90291-F DOI 10.1016/0022-2836(92)90254-H http://dx.doi.org/10.1016/0022-2836(92)90254-H DOI 10.1016/0167-4838(89)90116-7 http://dx.doi.org/10.1016/0167-4838(89)90116-7 DOI 10.1016/j.bbamem.2012.11.030 http://dx.doi.org/10.1016/j.bbamem.2012.11.030 DOI 10.1016/j.bbrc.2015.05.128 http://dx.doi.org/10.1016/j.bbrc.2015.05.128 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/bi00051a005 http://dx.doi.org/10.1021/bi00051a005 DOI 10.1021/bi971445b http://dx.doi.org/10.1021/bi971445b DOI 10.1021/bi973158d http://dx.doi.org/10.1021/bi973158d DOI 10.1034/j.1600-0854.2000.011208.x http://dx.doi.org/10.1034/j.1600-0854.2000.011208.x DOI 10.1038/ng0696-214 http://dx.doi.org/10.1038/ng0696-214 DOI 10.1038/ng1656 http://dx.doi.org/10.1038/ng1656 DOI 10.1042/0264-6021:3490051 http://dx.doi.org/10.1042/0264-6021:3490051 DOI 10.1042/bj2130577 http://dx.doi.org/10.1042/bj2130577 DOI 10.1042/bj2560703 http://dx.doi.org/10.1042/bj2560703 DOI 10.1042/bj2930317 http://dx.doi.org/10.1042/bj2930317 DOI 10.1042/bj3500041 http://dx.doi.org/10.1042/bj3500041 DOI 10.1042/bst0260516 http://dx.doi.org/10.1042/bst0260516 DOI 10.1046/j.1365-2141.1997.1893005.x http://dx.doi.org/10.1046/j.1365-2141.1997.1893005.x DOI 10.1046/j.1365-2141.1997.8732504.x http://dx.doi.org/10.1046/j.1365-2141.1997.8732504.x DOI 10.1046/j.1365-2141.2001.02800.x http://dx.doi.org/10.1046/j.1365-2141.2001.02800.x DOI 10.1046/j.1537-2995.1997.37697335155.x http://dx.doi.org/10.1046/j.1537-2995.1997.37697335155.x DOI 10.1046/j.1537-2995.1998.38898375513.x http://dx.doi.org/10.1046/j.1537-2995.1998.38898375513.x DOI 10.1046/j.1537-2995.2000.40030325.x http://dx.doi.org/10.1046/j.1537-2995.2000.40030325.x DOI 10.1046/j.1537-2995.2000.40101246.x http://dx.doi.org/10.1046/j.1537-2995.2000.40101246.x DOI 10.1053/j.ajkd.2004.03.033 http://dx.doi.org/10.1053/j.ajkd.2004.03.033 DOI 10.1073/pnas.86.23.9089 http://dx.doi.org/10.1073/pnas.86.23.9089 DOI 10.1073/pnas.88.24.11022 http://dx.doi.org/10.1073/pnas.88.24.11022 DOI 10.1073/pnas.95.11.6337 http://dx.doi.org/10.1073/pnas.95.11.6337 DOI 10.1074/jbc.270.37.22050 http://dx.doi.org/10.1074/jbc.270.37.22050 DOI 10.1074/jbc.M113.511865 http://dx.doi.org/10.1074/jbc.M113.511865 DOI 10.1074/jbc.M400188200 http://dx.doi.org/10.1074/jbc.M400188200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1365-2141.1995.tb05393.x http://dx.doi.org/10.1111/j.1365-2141.1995.tb05393.x DOI 10.1111/j.1432-1033.1994.tb18757.x http://dx.doi.org/10.1111/j.1432-1033.1994.tb18757.x DOI 10.1111/j.1600-0609.2004.00405.x http://dx.doi.org/10.1111/j.1600-0609.2004.00405.x DOI 10.1126/science.aaa4335 http://dx.doi.org/10.1126/science.aaa4335 DOI 10.1152/ajpcell.00054.2011 http://dx.doi.org/10.1152/ajpcell.00054.2011 DOI 10.1159/000040904 http://dx.doi.org/10.1159/000040904 DOI 10.1159/000056733 http://dx.doi.org/10.1159/000056733 DOI 10.1172/JCI119694 http://dx.doi.org/10.1172/JCI119694 DOI 10.1172/JCI4836 http://dx.doi.org/10.1172/JCI4836 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DOI 10.3109/09687681003588020 http://dx.doi.org/10.3109/09687681003588020 EMBL BC096106 http://www.ebi.ac.uk/ena/data/view/BC096106 EMBL BC096107 http://www.ebi.ac.uk/ena/data/view/BC096107 EMBL BC099628 http://www.ebi.ac.uk/ena/data/view/BC099628 EMBL BC099629 http://www.ebi.ac.uk/ena/data/view/BC099629 EMBL BC101570 http://www.ebi.ac.uk/ena/data/view/BC101570 EMBL BC101574 http://www.ebi.ac.uk/ena/data/view/BC101574 EMBL CH471178 http://www.ebi.ac.uk/ena/data/view/CH471178 EMBL DQ072115 http://www.ebi.ac.uk/ena/data/view/DQ072115 EMBL DQ419529 http://www.ebi.ac.uk/ena/data/view/DQ419529 EMBL GQ981383 http://www.ebi.ac.uk/ena/data/view/GQ981383 EMBL GQ981384 http://www.ebi.ac.uk/ena/data/view/GQ981384 EMBL M27819 http://www.ebi.ac.uk/ena/data/view/M27819 EMBL S68680 http://www.ebi.ac.uk/ena/data/view/S68680 EMBL X12609 http://www.ebi.ac.uk/ena/data/view/X12609 Ensembl ENST00000262418 http://www.ensembl.org/id/ENST00000262418 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0016323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016323 GO_component GO:0030018 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030018 GO_component GO:0030863 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030863 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_component GO:0072562 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0072562 GO_function GO:0005452 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005452 GO_function GO:0008509 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008509 GO_function GO:0015106 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015106 GO_function GO:0015108 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015108 GO_function GO:0015301 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015301 GO_function GO:0030506 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030506 GO_function GO:0042803 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042803 GO_function GO:0043495 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043495 GO_process GO:0006820 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006820 GO_process GO:0006821 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006821 GO_process GO:0006873 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006873 GO_process GO:0015701 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015701 GO_process GO:0051453 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051453 GO_process GO:1902476 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902476 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005856 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0008092 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008092 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 3.40.1100.10 http://www.cathdb.info/version/latest/superfamily/3.40.1100.10 GeneCards SLC4A1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC4A1 GeneID 6521 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6521 GeneTree ENSGT00760000119021 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119021 HGNC HGNC:11027 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11027 HOVERGEN HBG004326 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG004326&db=HOVERGEN HPA CAB034438 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB034438 HPA HPA015584 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA015584 HPA HPA063911 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA063911 InParanoid P02730 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P02730 IntAct P02730 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P02730* InterPro IPR001717 http://www.ebi.ac.uk/interpro/entry/IPR001717 InterPro IPR002977 http://www.ebi.ac.uk/interpro/entry/IPR002977 InterPro IPR003020 http://www.ebi.ac.uk/interpro/entry/IPR003020 InterPro IPR011531 http://www.ebi.ac.uk/interpro/entry/IPR011531 InterPro IPR013769 http://www.ebi.ac.uk/interpro/entry/IPR013769 InterPro IPR016152 http://www.ebi.ac.uk/interpro/entry/IPR016152 InterPro IPR018241 http://www.ebi.ac.uk/interpro/entry/IPR018241 Jabion 6521 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6521 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Brite ko04090 http://www.genome.jp/dbget-bin/www_bget?ko04090 KEGG_Disease H00230 http://www.genome.jp/dbget-bin/www_bget?H00230 KEGG_Disease H00231 http://www.genome.jp/dbget-bin/www_bget?H00231 KEGG_Disease H00232 http://www.genome.jp/dbget-bin/www_bget?H00232 KEGG_Disease H00428 http://www.genome.jp/dbget-bin/www_bget?H00428 KEGG_Gene hsa:6521 http://www.genome.jp/dbget-bin/www_bget?hsa:6521 KEGG_Orthology KO:K06573 http://www.genome.jp/dbget-bin/www_bget?KO:K06573 KEGG_Pathway ko04966 http://www.genome.jp/kegg-bin/show_pathway?ko04966 MIM 109270 http://www.ncbi.nlm.nih.gov/omim/109270 MIM 110500 http://www.ncbi.nlm.nih.gov/omim/110500 MIM 112010 http://www.ncbi.nlm.nih.gov/omim/112010 MIM 112050 http://www.ncbi.nlm.nih.gov/omim/112050 MIM 130600 http://www.ncbi.nlm.nih.gov/omim/130600 MIM 166900 http://www.ncbi.nlm.nih.gov/omim/166900 MIM 179800 http://www.ncbi.nlm.nih.gov/omim/179800 MIM 185020 http://www.ncbi.nlm.nih.gov/omim/185020 MIM 601550 http://www.ncbi.nlm.nih.gov/omim/601550 MIM 601551 http://www.ncbi.nlm.nih.gov/omim/601551 MIM 611162 http://www.ncbi.nlm.nih.gov/omim/611162 MIM 611590 http://www.ncbi.nlm.nih.gov/omim/611590 MIM 612653 http://www.ncbi.nlm.nih.gov/omim/612653 MINT MINT-1344291 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1344291 OMA FKPPKYH http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=FKPPKYH Orphanet 398088 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=398088 Orphanet 822 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=822 Orphanet 93608 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=93608 Orphanet 93610 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=93610 Orphanet 98868 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=98868 OrthoDB EOG091G01FT http://cegg.unige.ch/orthodb/results?searchtext=EOG091G01FT PANTHER PTHR11453 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11453 PDB 1BH7 http://www.ebi.ac.uk/pdbe-srv/view/entry/1BH7 PDB 1BNX http://www.ebi.ac.uk/pdbe-srv/view/entry/1BNX PDB 1BTQ http://www.ebi.ac.uk/pdbe-srv/view/entry/1BTQ PDB 1BTR http://www.ebi.ac.uk/pdbe-srv/view/entry/1BTR PDB 1BTS http://www.ebi.ac.uk/pdbe-srv/view/entry/1BTS PDB 1BTT http://www.ebi.ac.uk/pdbe-srv/view/entry/1BTT PDB 1BZK http://www.ebi.ac.uk/pdbe-srv/view/entry/1BZK PDB 1HYN http://www.ebi.ac.uk/pdbe-srv/view/entry/1HYN PDB 2BTA http://www.ebi.ac.uk/pdbe-srv/view/entry/2BTA PDB 2BTB http://www.ebi.ac.uk/pdbe-srv/view/entry/2BTB PDB 3BTB http://www.ebi.ac.uk/pdbe-srv/view/entry/3BTB PDB 4KY9 http://www.ebi.ac.uk/pdbe-srv/view/entry/4KY9 PDB 4YZF http://www.ebi.ac.uk/pdbe-srv/view/entry/4YZF PDBsum 1BH7 http://www.ebi.ac.uk/pdbsum/1BH7 PDBsum 1BNX http://www.ebi.ac.uk/pdbsum/1BNX PDBsum 1BTQ http://www.ebi.ac.uk/pdbsum/1BTQ PDBsum 1BTR http://www.ebi.ac.uk/pdbsum/1BTR PDBsum 1BTS http://www.ebi.ac.uk/pdbsum/1BTS PDBsum 1BTT http://www.ebi.ac.uk/pdbsum/1BTT PDBsum 1BZK http://www.ebi.ac.uk/pdbsum/1BZK PDBsum 1HYN http://www.ebi.ac.uk/pdbsum/1HYN PDBsum 2BTA http://www.ebi.ac.uk/pdbsum/2BTA PDBsum 2BTB http://www.ebi.ac.uk/pdbsum/2BTB PDBsum 3BTB http://www.ebi.ac.uk/pdbsum/3BTB PDBsum 4KY9 http://www.ebi.ac.uk/pdbsum/4KY9 PDBsum 4YZF http://www.ebi.ac.uk/pdbsum/4YZF PRINTS PR00165 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00165 PRINTS PR01187 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01187 PRINTS PR01231 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01231 PROSITE PS00219 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00219 PROSITE PS00220 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00220 PSORT swissprot:B3AT_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:B3AT_HUMAN PSORT-B swissprot:B3AT_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:B3AT_HUMAN PSORT2 swissprot:B3AT_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:B3AT_HUMAN Pfam PF00955 http://pfam.xfam.org/family/PF00955 Pfam PF07565 http://pfam.xfam.org/family/PF07565 PharmGKB PA35895 http://www.pharmgkb.org/do/serve?objId=PA35895&objCls=Gene Phobius swissprot:B3AT_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:B3AT_HUMAN PhylomeDB P02730 http://phylomedb.org/?seqid=P02730 ProteinModelPortal P02730 http://www.proteinmodelportal.org/query/uniprot/P02730 PubMed 10580570 http://www.ncbi.nlm.nih.gov/pubmed/10580570 PubMed 10738034 http://www.ncbi.nlm.nih.gov/pubmed/10738034 PubMed 10745622 http://www.ncbi.nlm.nih.gov/pubmed/10745622 PubMed 10861210 http://www.ncbi.nlm.nih.gov/pubmed/10861210 PubMed 10926824 http://www.ncbi.nlm.nih.gov/pubmed/10926824 PubMed 10942405 http://www.ncbi.nlm.nih.gov/pubmed/10942405 PubMed 10942416 http://www.ncbi.nlm.nih.gov/pubmed/10942416 PubMed 11049968 http://www.ncbi.nlm.nih.gov/pubmed/11049968 PubMed 11061863 http://www.ncbi.nlm.nih.gov/pubmed/11061863 PubMed 11155072 http://www.ncbi.nlm.nih.gov/pubmed/11155072 PubMed 11208088 http://www.ncbi.nlm.nih.gov/pubmed/11208088 PubMed 11380459 http://www.ncbi.nlm.nih.gov/pubmed/11380459 PubMed 1352774 http://www.ncbi.nlm.nih.gov/pubmed/1352774 PubMed 1378323 http://www.ncbi.nlm.nih.gov/pubmed/1378323 PubMed 14734552 http://www.ncbi.nlm.nih.gov/pubmed/14734552 PubMed 15211439 http://www.ncbi.nlm.nih.gov/pubmed/15211439 PubMed 1527044 http://www.ncbi.nlm.nih.gov/pubmed/1527044 PubMed 1538405 http://www.ncbi.nlm.nih.gov/pubmed/1538405 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15813913 http://www.ncbi.nlm.nih.gov/pubmed/15813913 PubMed 16227998 http://www.ncbi.nlm.nih.gov/pubmed/16227998 PubMed 16252102 http://www.ncbi.nlm.nih.gov/pubmed/16252102 PubMed 1678289 http://www.ncbi.nlm.nih.gov/pubmed/1678289 PubMed 1722314 http://www.ncbi.nlm.nih.gov/pubmed/1722314 PubMed 1885574 http://www.ncbi.nlm.nih.gov/pubmed/1885574 PubMed 1998697 http://www.ncbi.nlm.nih.gov/pubmed/1998697 PubMed 20151848 http://www.ncbi.nlm.nih.gov/pubmed/20151848 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 21849667 http://www.ncbi.nlm.nih.gov/pubmed/21849667 PubMed 23219802 http://www.ncbi.nlm.nih.gov/pubmed/23219802 PubMed 24121512 http://www.ncbi.nlm.nih.gov/pubmed/24121512 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 2594752 http://www.ncbi.nlm.nih.gov/pubmed/2594752 PubMed 26049106 http://www.ncbi.nlm.nih.gov/pubmed/26049106 PubMed 26542571 http://www.ncbi.nlm.nih.gov/pubmed/26542571 PubMed 2790053 http://www.ncbi.nlm.nih.gov/pubmed/2790053 PubMed 3223947 http://www.ncbi.nlm.nih.gov/pubmed/3223947 PubMed 3372523 http://www.ncbi.nlm.nih.gov/pubmed/3372523 PubMed 6345535 http://www.ncbi.nlm.nih.gov/pubmed/6345535 PubMed 6615451 http://www.ncbi.nlm.nih.gov/pubmed/6615451 PubMed 701248 http://www.ncbi.nlm.nih.gov/pubmed/701248 PubMed 7506871 http://www.ncbi.nlm.nih.gov/pubmed/7506871 PubMed 7530501 http://www.ncbi.nlm.nih.gov/pubmed/7530501 PubMed 7665627 http://www.ncbi.nlm.nih.gov/pubmed/7665627 PubMed 7812009 http://www.ncbi.nlm.nih.gov/pubmed/7812009 PubMed 8045253 http://www.ncbi.nlm.nih.gov/pubmed/8045253 PubMed 8168533 http://www.ncbi.nlm.nih.gov/pubmed/8168533 PubMed 8206915 http://www.ncbi.nlm.nih.gov/pubmed/8206915 PubMed 8343110 http://www.ncbi.nlm.nih.gov/pubmed/8343110 PubMed 8471774 http://www.ncbi.nlm.nih.gov/pubmed/8471774 PubMed 8508760 http://www.ncbi.nlm.nih.gov/pubmed/8508760 PubMed 8527430 http://www.ncbi.nlm.nih.gov/pubmed/8527430 PubMed 8547122 http://www.ncbi.nlm.nih.gov/pubmed/8547122 PubMed 8640229 http://www.ncbi.nlm.nih.gov/pubmed/8640229 PubMed 8943874 http://www.ncbi.nlm.nih.gov/pubmed/8943874 PubMed 9012689 http://www.ncbi.nlm.nih.gov/pubmed/9012689 PubMed 9191821 http://www.ncbi.nlm.nih.gov/pubmed/9191821 PubMed 9207478 http://www.ncbi.nlm.nih.gov/pubmed/9207478 PubMed 9233560 http://www.ncbi.nlm.nih.gov/pubmed/9233560 PubMed 9312167 http://www.ncbi.nlm.nih.gov/pubmed/9312167 PubMed 9454576 http://www.ncbi.nlm.nih.gov/pubmed/9454576 PubMed 9600966 http://www.ncbi.nlm.nih.gov/pubmed/9600966 PubMed 9709005 http://www.ncbi.nlm.nih.gov/pubmed/9709005 PubMed 9709782 http://www.ncbi.nlm.nih.gov/pubmed/9709782 PubMed 9765907 http://www.ncbi.nlm.nih.gov/pubmed/9765907 PubMed 9845551 http://www.ncbi.nlm.nih.gov/pubmed/9845551 PubMed 9854053 http://www.ncbi.nlm.nih.gov/pubmed/9854053 PubMed 9973643 http://www.ncbi.nlm.nih.gov/pubmed/9973643 Reactome R-HSA-1237044 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1237044 Reactome R-HSA-1247673 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1247673 Reactome R-HSA-425381 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-425381 RefSeq NP_000333 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000333 RefSeq XP_005257650 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005257650 SMR P02730 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P02730 STRING 9606.ENSP00000262418 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000262418&targetmode=cogs SUPFAM SSF55804 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF55804 TCDB 2.A.31.1 http://www.tcdb.org/search/result.php?tc=2.A.31.1 TIGRFAMs TIGR00834 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00834 UCSC uc002igf http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002igf&org=rat UniGene Hs.210751 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.210751 UniGene Hs.443948 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.443948 UniProtKB B3AT_HUMAN http://www.uniprot.org/uniprot/B3AT_HUMAN UniProtKB-AC P02730 http://www.uniprot.org/uniprot/P02730 charge swissprot:B3AT_HUMAN http://rest.g-language.org/emboss/charge/swissprot:B3AT_HUMAN eggNOG ENOG410XPHD http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XPHD eggNOG KOG1172 http://eggnogapi.embl.de/nog_data/html/tree/KOG1172 epestfind swissprot:B3AT_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:B3AT_HUMAN garnier swissprot:B3AT_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:B3AT_HUMAN helixturnhelix swissprot:B3AT_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:B3AT_HUMAN hmoment swissprot:B3AT_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:B3AT_HUMAN iep swissprot:B3AT_HUMAN http://rest.g-language.org/emboss/iep/swissprot:B3AT_HUMAN inforesidue swissprot:B3AT_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:B3AT_HUMAN neXtProt NX_P02730 http://www.nextprot.org/db/entry/NX_P02730 octanol swissprot:B3AT_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:B3AT_HUMAN pepcoil swissprot:B3AT_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:B3AT_HUMAN pepdigest swissprot:B3AT_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:B3AT_HUMAN pepinfo swissprot:B3AT_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:B3AT_HUMAN pepnet swissprot:B3AT_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:B3AT_HUMAN pepstats swissprot:B3AT_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:B3AT_HUMAN pepwheel swissprot:B3AT_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:B3AT_HUMAN pepwindow swissprot:B3AT_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:B3AT_HUMAN sigcleave swissprot:B3AT_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:B3AT_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS CY561_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P49447-1; Sequence=Displayed; Name=2; IsoId=P49447-2; Sequence=VSP_056950; Note=No experimental confirmation available.; # AltName CY561_HUMAN Cytochrome b-561 # BioGrid 107914 4 # CCDS CCDS11636 -. [P49447-1] # COFACTOR CY561_HUMAN Name=heme; Xref=ChEBI CHEBI 30413; Evidence={ECO 0000250}; Note=Binds 2 heme groups non-covalently. {ECO 0000250}; # ChiTaRS CYB561 human # Ensembl ENST00000360793 ENSP00000354028; ENSG00000008283. [P49447-1] # Ensembl ENST00000392975 ENSP00000376701; ENSG00000008283. [P49447-1] # Ensembl ENST00000392976 ENSP00000376702; ENSG00000008283. [P49447-1] # Ensembl ENST00000448884 ENSP00000400350; ENSG00000008283. [P49447-2] # Ensembl ENST00000581573 ENSP00000462325; ENSG00000008283. [P49447-1] # Ensembl ENST00000584291 ENSP00000462543; ENSG00000008283. [P49447-1] # ExpressionAtlas P49447 baseline and differential # FUNCTION CY561_HUMAN Secretory vesicle-specific electron transport protein. # GO_component GO:0016021 integral component of membrane; NAS:UniProtKB. # GO_function GO:0000293 ferric-chelate reductase activity; ISS:HGNC. # GO_function GO:0016491 oxidoreductase activity; IBA:GO_Central. # GO_function GO:0022865 transmembrane electron transfer carrier; NAS:UniProtKB. # GO_function GO:0046872 metal ion binding; IEA:UniProtKB-KW. # GO_process GO:0022900 electron transport chain; NAS:UniProtKB. # GO_process GO:0055114 oxidation-reduction process; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0016491 oxidoreductase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006091 generation of precursor metabolites and energy # GOslim_process GO:0008150 biological_process # Genevisible P49447 HS # HGNC HGNC:2571 CYB561 # INTERACTION CY561_HUMAN Q92838 EDA; NbExp=3; IntAct=EBI-8646596, EBI-529425; Q99942 RNF5; NbExp=3; IntAct=EBI-8646596, EBI-348482; # IntAct P49447 3 # InterPro IPR006593 Cyt_b561/ferric_Rdtase_TM # InterPro IPR028837 Cytochrome_b561 # KEGG_Brite ko02000 Transporters # MIM 600019 gene # Organism CY561_HUMAN Homo sapiens (Human) # PANTHER PTHR10106:SF14 PTHR10106:SF14 # PIR S53321 S53321 # PROSITE PS50939 CYTOCHROME_B561 # Pfam PF03188 Cytochrom_B561 # Proteomes UP000005640 Chromosome 17 # RecName CY561_HUMAN Cytochrome b561 # RefSeq NP_001017916 NM_001017916.1. [P49447-1] # RefSeq NP_001017917 NM_001017917.1. [P49447-1] # RefSeq NP_001317350 NM_001330421.1 # RefSeq NP_001906 NM_001915.3 # RefSeq XP_005257148 XM_005257091.1. [P49447-1] # SIMILARITY Contains 1 cytochrome b561 domain. {ECO:0000255|PROSITE-ProRule PRU00242}. # SMART SM00665 B561 # SUBCELLULAR LOCATION CY561_HUMAN Membrane; Multi-pass membrane protein. # TCDB 5.B.2.1 the eukaryotic cytochrome b561 (cytb561) family # UCSC uc002jap human. [P49447-1] # eggNOG ENOG4111FKI LUCA # eggNOG KOG1619 Eukaryota BLAST swissprot:CY561_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CY561_HUMAN BioCyc ZFISH:ENSG00000008283-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000008283-MONOMER COXPRESdb 1534 http://coxpresdb.jp/data/gene/1534.shtml CleanEx HS_CYB561 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CYB561 DOI 10.1038/nature04689 http://dx.doi.org/10.1038/nature04689 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1042/bj3030915 http://dx.doi.org/10.1042/bj3030915 DOI 10.1074/jbc.270.39.22714 http://dx.doi.org/10.1074/jbc.270.39.22714 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AC005828 http://www.ebi.ac.uk/ena/data/view/AC005828 EMBL AK301541 http://www.ebi.ac.uk/ena/data/view/AK301541 EMBL AK316606 http://www.ebi.ac.uk/ena/data/view/AK316606 EMBL BC000021 http://www.ebi.ac.uk/ena/data/view/BC000021 EMBL BC002976 http://www.ebi.ac.uk/ena/data/view/BC002976 EMBL BC091485 http://www.ebi.ac.uk/ena/data/view/BC091485 EMBL BT007096 http://www.ebi.ac.uk/ena/data/view/BT007096 EMBL CH471109 http://www.ebi.ac.uk/ena/data/view/CH471109 EMBL CH471109 http://www.ebi.ac.uk/ena/data/view/CH471109 EMBL CH471109 http://www.ebi.ac.uk/ena/data/view/CH471109 EMBL U06715 http://www.ebi.ac.uk/ena/data/view/U06715 EMBL U29460 http://www.ebi.ac.uk/ena/data/view/U29460 EMBL U29461 http://www.ebi.ac.uk/ena/data/view/U29461 EMBL U29462 http://www.ebi.ac.uk/ena/data/view/U29462 EMBL U29464 http://www.ebi.ac.uk/ena/data/view/U29464 EMBL U29469 http://www.ebi.ac.uk/ena/data/view/U29469 Ensembl ENST00000360793 http://www.ensembl.org/id/ENST00000360793 Ensembl ENST00000392975 http://www.ensembl.org/id/ENST00000392975 Ensembl ENST00000392976 http://www.ensembl.org/id/ENST00000392976 Ensembl ENST00000448884 http://www.ensembl.org/id/ENST00000448884 Ensembl ENST00000581573 http://www.ensembl.org/id/ENST00000581573 Ensembl ENST00000584291 http://www.ensembl.org/id/ENST00000584291 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0000293 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000293 GO_function GO:0016491 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016491 GO_function GO:0022865 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022865 GO_function GO:0046872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046872 GO_process GO:0022900 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022900 GO_process GO:0055114 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055114 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0016491 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016491 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006091 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GeneCards CYB561 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CYB561 GeneID 1534 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=1534 GeneTree ENSGT00390000010986 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000010986 HGNC HGNC:2571 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:2571 HOVERGEN HBG054164 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG054164&db=HOVERGEN HPA HPA014753 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA014753 InParanoid P49447 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P49447 IntAct P49447 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P49447* InterPro IPR006593 http://www.ebi.ac.uk/interpro/entry/IPR006593 InterPro IPR028837 http://www.ebi.ac.uk/interpro/entry/IPR028837 Jabion 1534 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=1534 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Gene hsa:1534 http://www.genome.jp/dbget-bin/www_bget?hsa:1534 KEGG_Orthology KO:K08360 http://www.genome.jp/dbget-bin/www_bget?KO:K08360 MIM 600019 http://www.ncbi.nlm.nih.gov/omim/600019 PANTHER PTHR10106:SF14 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10106:SF14 PROSITE PS50939 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50939 PSORT swissprot:CY561_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CY561_HUMAN PSORT-B swissprot:CY561_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CY561_HUMAN PSORT2 swissprot:CY561_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CY561_HUMAN Pfam PF03188 http://pfam.xfam.org/family/PF03188 PharmGKB PA27069 http://www.pharmgkb.org/do/serve?objId=PA27069&objCls=Gene Phobius swissprot:CY561_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CY561_HUMAN PhylomeDB P49447 http://phylomedb.org/?seqid=P49447 ProteinModelPortal P49447 http://www.proteinmodelportal.org/query/uniprot/P49447 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16625196 http://www.ncbi.nlm.nih.gov/pubmed/16625196 PubMed 7559396 http://www.ncbi.nlm.nih.gov/pubmed/7559396 PubMed 7980462 http://www.ncbi.nlm.nih.gov/pubmed/7980462 RefSeq NP_001017916 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001017916 RefSeq NP_001017917 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001017917 RefSeq NP_001317350 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001317350 RefSeq NP_001906 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001906 RefSeq XP_005257148 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005257148 SMART SM00665 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00665 STRING 9606.ENSP00000354028 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000354028&targetmode=cogs TCDB 5.B.2.1 http://www.tcdb.org/search/result.php?tc=5.B.2.1 UCSC uc002jap http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002jap&org=rat UniGene Hs.355264 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.355264 UniProtKB CY561_HUMAN http://www.uniprot.org/uniprot/CY561_HUMAN UniProtKB-AC P49447 http://www.uniprot.org/uniprot/P49447 charge swissprot:CY561_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CY561_HUMAN eggNOG ENOG4111FKI http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111FKI eggNOG KOG1619 http://eggnogapi.embl.de/nog_data/html/tree/KOG1619 epestfind swissprot:CY561_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CY561_HUMAN garnier swissprot:CY561_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CY561_HUMAN helixturnhelix swissprot:CY561_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CY561_HUMAN hmoment swissprot:CY561_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CY561_HUMAN iep swissprot:CY561_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CY561_HUMAN inforesidue swissprot:CY561_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CY561_HUMAN neXtProt NX_P49447 http://www.nextprot.org/db/entry/NX_P49447 octanol swissprot:CY561_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CY561_HUMAN pepcoil swissprot:CY561_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CY561_HUMAN pepdigest swissprot:CY561_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CY561_HUMAN pepinfo swissprot:CY561_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CY561_HUMAN pepnet swissprot:CY561_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CY561_HUMAN pepstats swissprot:CY561_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CY561_HUMAN pepwheel swissprot:CY561_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CY561_HUMAN pepwindow swissprot:CY561_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CY561_HUMAN sigcleave swissprot:CY561_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CY561_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS TPC1_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9ULQ1-1; Sequence=Displayed; Name=2; IsoId=Q9ULQ1-2; Sequence=VSP_023003, VSP_023004, VSP_023005; Name=3; IsoId=Q9ULQ1-3; Sequence=VSP_041346; # AltName TPC1_HUMAN Voltage-dependent calcium channel protein TPC1 # BioGrid 119760 6 # CCDS CCDS31908 -. [Q9ULQ1-1] # CCDS CCDS44985 -. [Q9ULQ1-3] # ChiTaRS TPCN1 human # DOMAIN TPC1_HUMAN Each of the two internal repeats contains five hydrophobic transmembrane segments (S1, S2, S3, S5, S6) and one positively charged transmembrane segment (S4). S4 segments probably represent the voltage-sensor and are characterized by a series of positively charged amino acids at every third position (By similarity). {ECO 0000250}. # Ensembl ENST00000335509 ENSP00000335300; ENSG00000186815. [Q9ULQ1-1] # Ensembl ENST00000541517 ENSP00000438125; ENSG00000186815. [Q9ULQ1-3] # Ensembl ENST00000550785 ENSP00000448083; ENSG00000186815. [Q9ULQ1-3] # ExpressionAtlas Q9ULQ1 baseline and differential # FUNCTION TPC1_HUMAN Nicotinic acid adenine dinucleotide phosphate (NAADP) receptor that may function as one of the major voltage-gated Ca(2+) channels (VDCC) across the lysosomal and endosomal membrane. {ECO 0000269|PubMed 19620632}. # GO_component GO:0005764 lysosome; TAS:ParkinsonsUK-UCL. # GO_component GO:0005765 lysosomal membrane; IDA:UniProtKB. # GO_component GO:0005768 endosome; TAS:ParkinsonsUK-UCL. # GO_component GO:0005886 plasma membrane; IBA:GO_Central. # GO_component GO:0010008 endosome membrane; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0005245 voltage-gated calcium channel activity; IBA:GO_Central. # GO_function GO:0072345 NAADP-sensitive calcium-release channel activity; IDA:UniProtKB. # GO_process GO:0010508 positive regulation of autophagy; IDA:ParkinsonsUK-UCL. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0086010 membrane depolarization during action potential; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005764 lysosome # GOslim_component GO:0005768 endosome # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0008150 biological_process # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.20.120.350 -; 1. # Genevisible Q9ULQ1 HS # HGNC HGNC:18182 TPCN1 # INTERACTION TPC1_HUMAN Self; NbExp=3; IntAct=EBI-5239895, EBI-5239895; O00165 HAX1; NbExp=2; IntAct=EBI-5239895, EBI-357001; Q8NHX9 TPCN2; NbExp=9; IntAct=EBI-5239895, EBI-5239949; # IntAct Q9ULQ1 3 # InterPro IPR005821 Ion_trans_dom # InterPro IPR027359 Channel_four-helix_dom # MIM 609666 gene # Organism TPC1_HUMAN Homo sapiens (Human) # Pfam PF00520 Ion_trans; 2 # Proteomes UP000005640 Chromosome 12 # Reactome R-HSA-2672351 Stimuli-sensing channels # RecName TPC1_HUMAN Two pore calcium channel protein 1 # RefSeq NP_001137291 NM_001143819.2. [Q9ULQ1-3] # RefSeq NP_001288143 NM_001301214.1 # RefSeq NP_060371 NM_017901.5. [Q9ULQ1-1] # RefSeq XP_011536792 XM_011538490.2. [Q9ULQ1-3] # RefSeq XP_011536794 XM_011538492.2. [Q9ULQ1-1] # SEQUENCE CAUTION Sequence=AK057414; Type=Frameshift; Positions=273; Evidence={ECO:0000305}; Sequence=BAA86483.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. Two pore calcium channel subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION TPC1_HUMAN Lysosome membrane {ECO 0000269|PubMed 19620632}; Multi-pass membrane protein {ECO 0000269|PubMed 19620632}. Endosome membrane {ECO 0000269|PubMed 19620632}; Multi-pass membrane protein {ECO 0000269|PubMed 19620632}. # SUBUNIT Dimer. {ECO 0000305}. # TCDB 1.A.1.11.25 the voltage-gated ion channel (vic) superfamily # TISSUE SPECIFICITY Highest expression found in the heart and kidney, and lowest expression found in the spleen. {ECO:0000269|PubMed 10574461}. # UCSC uc001tuw human. [Q9ULQ1-1] # eggNOG ENOG410INF7 Eukaryota # eggNOG ENOG410XZT8 LUCA BLAST swissprot:TPC1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:TPC1_HUMAN BioCyc ZFISH:G66-32950-MONOMER http://biocyc.org/getid?id=ZFISH:G66-32950-MONOMER COXPRESdb 53373 http://coxpresdb.jp/data/gene/53373.shtml CleanEx HS_TPCN1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_TPCN1 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1038/nature04569 http://dx.doi.org/10.1038/nature04569 DOI 10.1038/nature08030 http://dx.doi.org/10.1038/nature08030 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1083/jcb.200904073 http://dx.doi.org/10.1083/jcb.200904073 DOI 10.1093/dnares/6.5.329 http://dx.doi.org/10.1093/dnares/6.5.329 DOI 10.1093/dnares/9.3.99 http://dx.doi.org/10.1093/dnares/9.3.99 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AB032995 http://www.ebi.ac.uk/ena/data/view/AB032995 EMBL AC010178 http://www.ebi.ac.uk/ena/data/view/AC010178 EMBL AC089999 http://www.ebi.ac.uk/ena/data/view/AC089999 EMBL AC127004 http://www.ebi.ac.uk/ena/data/view/AC127004 EMBL AK057414 http://www.ebi.ac.uk/ena/data/view/AK057414 EMBL AK075071 http://www.ebi.ac.uk/ena/data/view/AK075071 EMBL AY083666 http://www.ebi.ac.uk/ena/data/view/AY083666 EMBL BC136795 http://www.ebi.ac.uk/ena/data/view/BC136795 EMBL BC136796 http://www.ebi.ac.uk/ena/data/view/BC136796 EMBL BC150203 http://www.ebi.ac.uk/ena/data/view/BC150203 EMBL BC152423 http://www.ebi.ac.uk/ena/data/view/BC152423 Ensembl ENST00000335509 http://www.ensembl.org/id/ENST00000335509 Ensembl ENST00000541517 http://www.ensembl.org/id/ENST00000541517 Ensembl ENST00000550785 http://www.ensembl.org/id/ENST00000550785 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005764 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005764 GO_component GO:0005765 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005765 GO_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0010008 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010008 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005245 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005245 GO_function GO:0072345 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0072345 GO_process GO:0010508 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010508 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0086010 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086010 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005764 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005764 GOslim_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.20.120.350 http://www.cathdb.info/version/latest/superfamily/1.20.120.350 GeneCards TPCN1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=TPCN1 GeneID 53373 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=53373 GeneTree ENSGT00530000063660 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000063660 HGNC HGNC:18182 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:18182 HOGENOM HOG000006773 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000006773&db=HOGENOM6 HOVERGEN HBG080605 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG080605&db=HOVERGEN HPA HPA039757 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA039757 InParanoid Q9ULQ1 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9ULQ1 IntAct Q9ULQ1 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9ULQ1* InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR027359 http://www.ebi.ac.uk/interpro/entry/IPR027359 Jabion 53373 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=53373 KEGG_Gene hsa:53373 http://www.genome.jp/dbget-bin/www_bget?hsa:53373 MIM 609666 http://www.ncbi.nlm.nih.gov/omim/609666 OMA NVPWSYI http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=NVPWSYI OrthoDB EOG091G038K http://cegg.unige.ch/orthodb/results?searchtext=EOG091G038K PSORT swissprot:TPC1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:TPC1_HUMAN PSORT-B swissprot:TPC1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:TPC1_HUMAN PSORT2 swissprot:TPC1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:TPC1_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 PharmGKB PA134922711 http://www.pharmgkb.org/do/serve?objId=PA134922711&objCls=Gene Phobius swissprot:TPC1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:TPC1_HUMAN PhylomeDB Q9ULQ1 http://phylomedb.org/?seqid=Q9ULQ1 ProteinModelPortal Q9ULQ1 http://www.proteinmodelportal.org/query/uniprot/Q9ULQ1 PubMed 10574461 http://www.ncbi.nlm.nih.gov/pubmed/10574461 PubMed 12168954 http://www.ncbi.nlm.nih.gov/pubmed/12168954 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16541075 http://www.ncbi.nlm.nih.gov/pubmed/16541075 PubMed 19387438 http://www.ncbi.nlm.nih.gov/pubmed/19387438 PubMed 19620632 http://www.ncbi.nlm.nih.gov/pubmed/19620632 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 Reactome R-HSA-2672351 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2672351 RefSeq NP_001137291 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001137291 RefSeq NP_001288143 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001288143 RefSeq NP_060371 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_060371 RefSeq XP_011536792 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011536792 RefSeq XP_011536794 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011536794 STRING 9606.ENSP00000438125 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000438125&targetmode=cogs TCDB 1.A.1.11.25 http://www.tcdb.org/search/result.php?tc=1.A.1.11.25 UCSC uc001tuw http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001tuw&org=rat UniGene Hs.524763 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.524763 UniProtKB TPC1_HUMAN http://www.uniprot.org/uniprot/TPC1_HUMAN UniProtKB-AC Q9ULQ1 http://www.uniprot.org/uniprot/Q9ULQ1 charge swissprot:TPC1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:TPC1_HUMAN eggNOG ENOG410INF7 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410INF7 eggNOG ENOG410XZT8 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XZT8 epestfind swissprot:TPC1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:TPC1_HUMAN garnier swissprot:TPC1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:TPC1_HUMAN helixturnhelix swissprot:TPC1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:TPC1_HUMAN hmoment swissprot:TPC1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:TPC1_HUMAN iep swissprot:TPC1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:TPC1_HUMAN inforesidue swissprot:TPC1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:TPC1_HUMAN neXtProt NX_Q9ULQ1 http://www.nextprot.org/db/entry/NX_Q9ULQ1 octanol swissprot:TPC1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:TPC1_HUMAN pepcoil swissprot:TPC1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:TPC1_HUMAN pepdigest swissprot:TPC1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:TPC1_HUMAN pepinfo swissprot:TPC1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:TPC1_HUMAN pepnet swissprot:TPC1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:TPC1_HUMAN pepstats swissprot:TPC1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:TPC1_HUMAN pepwheel swissprot:TPC1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:TPC1_HUMAN pepwindow swissprot:TPC1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:TPC1_HUMAN sigcleave swissprot:TPC1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:TPC1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS Event=Alternative splicing; Named isoforms=3; Name=2; Synonyms=CLIC5B; IsoId=Q9NZA1-1; Sequence=Displayed; Name=1; Synonyms=CLIC5A; IsoId=Q9NZA1-2; Sequence=VSP_000869, VSP_000870; Note=Ref.1 (AAF66928) sequence is in conflict in position: 12 R->S. {ECO:0000305}; Name=3; IsoId=Q9NZA1-3; Sequence=VSP_044889, VSP_044890, VSP_044891; Note=No experimental confirmation available.; # BioGrid 119781 7 # CCDS CCDS47438 -. [Q9NZA1-1] # CCDS CCDS4914 -. [Q9NZA1-2] # CCDS CCDS59022 -. [Q9NZA1-3] # ChiTaRS CLIC5 human # DISEASE CLIC5_HUMAN Deafness, autosomal recessive, 103 (DFNB103) [MIM 616042] A form of sensorineural deafness with onset in early childhood. Hearing impairment progresses from mild to severe or even profound before the second decade, and is accompanied by vestibular areflexia. {ECO 0000269|PubMed 24781754}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DOMAIN CLIC5_HUMAN Members of this family may change from a globular, soluble state to a state where the N-terminal domain is inserted into the membrane and functions as chloride channel. A conformation change of the N-terminal domain is thought to expose hydrophobic surfaces that trigger membrane insertion (By similarity). {ECO 0000250}. # Ensembl ENST00000185206 ENSP00000185206; ENSG00000112782. [Q9NZA1-1] # Ensembl ENST00000339561 ENSP00000344165; ENSG00000112782. [Q9NZA1-2] # Ensembl ENST00000544153 ENSP00000439195; ENSG00000112782. [Q9NZA1-3] # ExpressionAtlas Q9NZA1 baseline and differential # FUNCTION CLIC5_HUMAN Required for normal hearing (PubMed 24781754). It is necessary for the formation of stereocilia in the inner ear and normal development of the organ of Corti (By similarity). Can insert into membranes and form poorly selective ion channels that may also transport chloride ions. May play a role in the regulation of transepithelial ion absorption and secretion. Is required for the development and/or maintenance of the proper glomerular endothelial cell and podocyte architecture (PubMed 15184393, PubMed 18028448, PubMed 20335315). {ECO 0000250|UniProtKB Q8BXK9, ECO 0000269|PubMed 15184393, ECO 0000269|PubMed 18028448, ECO 0000269|PubMed 20335315, ECO 0000269|PubMed 24781754}. # GO_component GO:0005794 Golgi apparatus; IDA:UniProtKB. # GO_component GO:0005815 microtubule organizing center; IEA:UniProtKB-SubCell. # GO_component GO:0005938 cell cortex; IEA:UniProtKB-SubCell. # GO_component GO:0015629 actin cytoskeleton; IDA:UniProtKB. # GO_component GO:0032420 stereocilium; IEA:Ensembl. # GO_component GO:0034707 chloride channel complex; IEA:UniProtKB-KW. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0005244 voltage-gated ion channel activity; IEA:UniProtKB-KW. # GO_function GO:0005254 chloride channel activity; IBA:GO_Central. # GO_process GO:0002024 diet induced thermogenesis; IEA:Ensembl. # GO_process GO:0006810 transport; NAS:ProtInc. # GO_process GO:0006821 chloride transport; IDA:UniProtKB. # GO_process GO:0007565 female pregnancy; TAS:ProtInc. # GO_process GO:0007605 sensory perception of sound; IMP:UniProtKB. # GO_process GO:0008104 protein localization; IEA:Ensembl. # GO_process GO:0050885 neuromuscular process controlling balance; IEA:Ensembl. # GO_process GO:0060088 auditory receptor cell stereocilium organization; IBA:GO_Central. # GO_process GO:1902476 chloride transmembrane transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005794 Golgi apparatus # GOslim_component GO:0005815 microtubule organizing center # GOslim_component GO:0005856 cytoskeleton # GOslim_component GO:0043226 organelle # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0050877 neurological system process # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.20.1050.10 -; 1. # Gene3D 3.40.30.10 -; 1. # Genevisible Q9NZA1 HS # HGNC HGNC:13517 CLIC5 # INTERACTION CLIC5_HUMAN P00523 SRC (xeno); NbExp=2; IntAct=EBI-5658997, EBI-848039; # IntAct Q9NZA1 6 # InterPro IPR002946 CLIC # InterPro IPR004045 Glutathione_S-Trfase_N # InterPro IPR010987 Glutathione-S-Trfase_C-like # InterPro IPR012336 Thioredoxin-like_fold # InterPro IPR030264 CLIC-5 # KEGG_Brite ko04040 Ion channels # MIM 607293 gene # MIM 616042 phenotype # Organism CLIC5_HUMAN Homo sapiens (Human) # Orphanet 90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB # PANTHER PTHR11260:SF152 PTHR11260:SF152; 2 # PRINTS PR01263 INTCLCHANNEL # PROSITE PS50405 GST_CTER # Pfam PF13417 GST_N_3 # Proteomes UP000005640 Chromosome 6 # RecName CLIC5_HUMAN Chloride intracellular channel protein 5 # RefSeq NP_001107558 NM_001114086.1. [Q9NZA1-1] # RefSeq NP_001242952 NM_001256023.1. [Q9NZA1-3] # RefSeq NP_058625 NM_016929.4. [Q9NZA1-2] # RefSeq XP_016866442 XM_017010953.1. [Q9NZA1-1] # SIMILARITY Belongs to the chloride channel CLIC family. {ECO 0000305}. # SIMILARITY Contains 1 GST C-terminal domain. {ECO 0000305}. # SUBCELLULAR LOCATION CLIC5_HUMAN Isoform 1 Cytoplasm, cell cortex {ECO 0000269|PubMed 15184393}. Cytoplasm, cytoskeleton {ECO 0000269|PubMed 15184393}. Membrane {ECO 0000269|PubMed 15184393}; Single-pass membrane protein {ECO 0000269|PubMed 15184393}. Note=Associates with the cortical actin cytoskeleton. Exists both as soluble cytoplasmic protein and as membrane protein with probably a single transmembrane domain (By similarity). {ECO 0000250}. # SUBCELLULAR LOCATION CLIC5_HUMAN Isoform 2 Golgi apparatus. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Membrane; Single-pass membrane protein. Note=Colocalized with AKAP9 at the Golgi apparatus as well as, to a lesser extent, the centrosome. Exists both as soluble cytoplasmic protein and as membrane protein with probably a single transmembrane domain (By similarity). Colocalized with podocalyxin in renal glomeruli. {ECO 0000250}. # SUBUNIT CLIC5_HUMAN Component of a multimeric complex consisting of several cytoskeletal proteins, including actin, ezrin, alpha-actinin, gelsolin, and IQGAP1. Interacts with AKAP9. {ECO 0000269|PubMed 12163479, ECO 0000269|PubMed 18028448}. # SUPFAM SSF47616 SSF47616 # SUPFAM SSF52833 SSF52833 # TIGRFAMs TIGR00862 O-ClC # TISSUE SPECIFICITY CLIC5_HUMAN Widely expressed in both fetal and adult human tissues (PubMed 24781754). Isoform 1 is expressed in renal glomeruli endothelial cells and podocytes (at protein level). {ECO 0000269|PubMed 20335315, ECO 0000269|PubMed 24781754}. # UCSC uc003oxu human. [Q9NZA1-1] # eggNOG ENOG410ZRK6 LUCA # eggNOG KOG1422 Eukaryota BLAST swissprot:CLIC5_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CLIC5_HUMAN BioCyc ZFISH:ENSG00000112782-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000112782-MONOMER COXPRESdb 53405 http://coxpresdb.jp/data/gene/53405.shtml CleanEx HS_CLIC5 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CLIC5 DOI 10.1038/ejhg.2014.83 http://dx.doi.org/10.1038/ejhg.2014.83 DOI 10.1038/nature02055 http://dx.doi.org/10.1038/nature02055 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.M112277200 http://dx.doi.org/10.1074/jbc.M112277200 DOI 10.1074/jbc.M402835200 http://dx.doi.org/10.1074/jbc.M402835200 DOI 10.1091/mbc.11.5.1509 http://dx.doi.org/10.1091/mbc.11.5.1509 DOI 10.1093/dnares/12.2.117 http://dx.doi.org/10.1093/dnares/12.2.117 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1742-4658.2007.06145.x http://dx.doi.org/10.1111/j.1742-4658.2007.06145.x DOI 10.1152/ajprenal.00030.2010 http://dx.doi.org/10.1152/ajprenal.00030.2010 EMBL AF216941 http://www.ebi.ac.uk/ena/data/view/AF216941 EMBL AK075144 http://www.ebi.ac.uk/ena/data/view/AK075144 EMBL AK075163 http://www.ebi.ac.uk/ena/data/view/AK075163 EMBL AK097048 http://www.ebi.ac.uk/ena/data/view/AK097048 EMBL AL050336 http://www.ebi.ac.uk/ena/data/view/AL050336 EMBL AL050336 http://www.ebi.ac.uk/ena/data/view/AL050336 EMBL AL355522 http://www.ebi.ac.uk/ena/data/view/AL355522 EMBL AL357057 http://www.ebi.ac.uk/ena/data/view/AL357057 EMBL AL357057 http://www.ebi.ac.uk/ena/data/view/AL357057 EMBL AL591211 http://www.ebi.ac.uk/ena/data/view/AL591211 EMBL AY032602 http://www.ebi.ac.uk/ena/data/view/AY032602 EMBL BC035968 http://www.ebi.ac.uk/ena/data/view/BC035968 EMBL CH471081 http://www.ebi.ac.uk/ena/data/view/CH471081 EMBL CH471081 http://www.ebi.ac.uk/ena/data/view/CH471081 Ensembl ENST00000185206 http://www.ensembl.org/id/ENST00000185206 Ensembl ENST00000339561 http://www.ensembl.org/id/ENST00000339561 Ensembl ENST00000544153 http://www.ensembl.org/id/ENST00000544153 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GO_component GO:0005815 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005815 GO_component GO:0005938 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005938 GO_component GO:0015629 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015629 GO_component GO:0032420 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032420 GO_component GO:0034707 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034707 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0005244 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005244 GO_function GO:0005254 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005254 GO_process GO:0002024 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002024 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0006821 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006821 GO_process GO:0007565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007565 GO_process GO:0007605 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007605 GO_process GO:0008104 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008104 GO_process GO:0050885 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050885 GO_process GO:0060088 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060088 GO_process GO:1902476 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902476 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GOslim_component GO:0005815 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005815 GOslim_component GO:0005856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005856 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.20.1050.10 http://www.cathdb.info/version/latest/superfamily/1.20.1050.10 Gene3D 3.40.30.10 http://www.cathdb.info/version/latest/superfamily/3.40.30.10 GeneCards CLIC5 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CLIC5 GeneID 53405 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=53405 GeneTree ENSGT00550000074477 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074477 HGNC HGNC:13517 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:13517 HOGENOM HOG000065740 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000065740&db=HOGENOM6 HOVERGEN HBG050995 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050995&db=HOVERGEN InParanoid Q9NZA1 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9NZA1 IntAct Q9NZA1 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9NZA1* InterPro IPR002946 http://www.ebi.ac.uk/interpro/entry/IPR002946 InterPro IPR004045 http://www.ebi.ac.uk/interpro/entry/IPR004045 InterPro IPR010987 http://www.ebi.ac.uk/interpro/entry/IPR010987 InterPro IPR012336 http://www.ebi.ac.uk/interpro/entry/IPR012336 InterPro IPR030264 http://www.ebi.ac.uk/interpro/entry/IPR030264 Jabion 53405 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=53405 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:53405 http://www.genome.jp/dbget-bin/www_bget?hsa:53405 KEGG_Orthology KO:K05025 http://www.genome.jp/dbget-bin/www_bget?KO:K05025 MIM 607293 http://www.ncbi.nlm.nih.gov/omim/607293 MIM 616042 http://www.ncbi.nlm.nih.gov/omim/616042 MINT MINT-4540449 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-4540449 OMA GAICKAG http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=GAICKAG Orphanet 90636 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=90636 OrthoDB EOG091G0IHT http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0IHT PANTHER PTHR11260:SF152 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11260:SF152 PRINTS PR01263 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01263 PROSITE PS50405 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50405 PSORT swissprot:CLIC5_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CLIC5_HUMAN PSORT-B swissprot:CLIC5_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CLIC5_HUMAN PSORT2 swissprot:CLIC5_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CLIC5_HUMAN Pfam PF13417 http://pfam.xfam.org/family/PF13417 PharmGKB PA26592 http://www.pharmgkb.org/do/serve?objId=PA26592&objCls=Gene Phobius swissprot:CLIC5_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CLIC5_HUMAN PhylomeDB Q9NZA1 http://phylomedb.org/?seqid=Q9NZA1 ProteinModelPortal Q9NZA1 http://www.proteinmodelportal.org/query/uniprot/Q9NZA1 PubMed 10793131 http://www.ncbi.nlm.nih.gov/pubmed/10793131 PubMed 12163479 http://www.ncbi.nlm.nih.gov/pubmed/12163479 PubMed 14574404 http://www.ncbi.nlm.nih.gov/pubmed/14574404 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15184393 http://www.ncbi.nlm.nih.gov/pubmed/15184393 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16303743 http://www.ncbi.nlm.nih.gov/pubmed/16303743 PubMed 18028448 http://www.ncbi.nlm.nih.gov/pubmed/18028448 PubMed 20335315 http://www.ncbi.nlm.nih.gov/pubmed/20335315 PubMed 24781754 http://www.ncbi.nlm.nih.gov/pubmed/24781754 RefSeq NP_001107558 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001107558 RefSeq NP_001242952 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001242952 RefSeq NP_058625 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_058625 RefSeq XP_016866442 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016866442 SMR Q9NZA1 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9NZA1 STRING 9606.ENSP00000185206 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000185206&targetmode=cogs SUPFAM SSF47616 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF47616 SUPFAM SSF52833 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52833 TIGRFAMs TIGR00862 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00862 UCSC uc003oxu http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003oxu&org=rat UniGene Hs.485489 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.485489 UniGene Hs.734348 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.734348 UniProtKB CLIC5_HUMAN http://www.uniprot.org/uniprot/CLIC5_HUMAN UniProtKB-AC Q9NZA1 http://www.uniprot.org/uniprot/Q9NZA1 charge swissprot:CLIC5_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CLIC5_HUMAN eggNOG ENOG410ZRK6 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410ZRK6 eggNOG KOG1422 http://eggnogapi.embl.de/nog_data/html/tree/KOG1422 epestfind swissprot:CLIC5_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CLIC5_HUMAN garnier swissprot:CLIC5_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CLIC5_HUMAN helixturnhelix swissprot:CLIC5_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CLIC5_HUMAN hmoment swissprot:CLIC5_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CLIC5_HUMAN iep swissprot:CLIC5_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CLIC5_HUMAN inforesidue swissprot:CLIC5_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CLIC5_HUMAN neXtProt NX_Q9NZA1 http://www.nextprot.org/db/entry/NX_Q9NZA1 octanol swissprot:CLIC5_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CLIC5_HUMAN pepcoil swissprot:CLIC5_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CLIC5_HUMAN pepdigest swissprot:CLIC5_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CLIC5_HUMAN pepinfo swissprot:CLIC5_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CLIC5_HUMAN pepnet swissprot:CLIC5_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CLIC5_HUMAN pepstats swissprot:CLIC5_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CLIC5_HUMAN pepwheel swissprot:CLIC5_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CLIC5_HUMAN pepwindow swissprot:CLIC5_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CLIC5_HUMAN sigcleave swissprot:CLIC5_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CLIC5_HUMAN ## Database ID URL or Descriptions # AltName S6A14_HUMAN Amino acid transporter ATB0+ # AltName S6A14_HUMAN Solute carrier family 6 member 14 # ChiTaRS SLC6A14 human # DISEASE S6A14_HUMAN Note=Genetic variations in SLC6A14 may be associated with obesity in some populations, as shown by significant differences in allele frequencies between obese and non-obese individuals. {ECO 0000269|PubMed 14660737, ECO 0000269|PubMed 14660752}. # DrugBank DB00172 L-Proline # DrugBank DB00577 Valaciclovir # DrugBank DB01610 Valganciclovir # Ensembl ENST00000598581 ENSP00000470801; ENSG00000268104 # FUNCTION S6A14_HUMAN Mediates the uptake of a broad range of neutral and cationic amino acids (with the exception of proline) in a Na(+)/Cl(-)-dependent manner. {ECO 0000269|PubMed 10446133}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0016021 integral component of membrane; TAS:ProtInc. # GO_component GO:0031526 brush border membrane; IEA:Ensembl. # GO_component GO:0031982 vesicle; IDA:UniProtKB. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0015171 amino acid transmembrane transporter activity; TAS:Reactome. # GO_function S6A14_HUMAN GO 0005328 neurotransmitter sodium symporter activity; IEA InterPro. # GO_process GO:0006520 cellular amino acid metabolic process; TAS:ProtInc. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0006865 amino acid transport; TAS:Reactome. # GO_process GO:0009636 response to toxic substance; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006520 cellular amino acid metabolic process # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # Genevisible Q9UN76 HS # HGNC HGNC:11047 SLC6A14 # InterPro IPR000175 Na/ntran_symport # KEGG_Brite ko02001 Solute carrier family # KEGG_Brite ko04040 Ion channels # MIM 300444 gene # MISCELLANEOUS S6A14_HUMAN Transport inhibited by BCH (2-aminobicyclo-[2.2.1]- heptane-2-carboxylic acid). # Organism S6A14_HUMAN Homo sapiens (Human) # PANTHER PTHR11616 PTHR11616; 2 # PRINTS PR00176 NANEUSMPORT # PROSITE PS00610 NA_NEUROTRAN_SYMP_1 # PROSITE PS00754 NA_NEUROTRAN_SYMP_2 # PROSITE PS50267 NA_NEUROTRAN_SYMP_3 # Pfam PF00209 SNF # Proteomes UP000005640 Chromosome X # Reactome R-HSA-352230 Amino acid transport across the plasma membrane # Reactome R-HSA-442660 Na+/Cl- dependent neurotransmitter transporters # RecName S6A14_HUMAN Sodium- and chloride-dependent neutral and basic amino acid transporter B(0+) # RefSeq NP_009162 NM_007231.4 # SIMILARITY Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A14 subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION S6A14_HUMAN Membrane; Multi-pass membrane protein. # TCDB 2.A.22.2:the neurotransmitter sodium symporter (nss) family # TISSUE SPECIFICITY Levels are highest in adult and fetal lung, in trachea and salivary gland. Lower levels detected in mammary gland, stomach and pituitary gland, and very low levels in colon, uterus, prostate and testis. {ECO:0000269|PubMed 10446133}. # UCSC uc033eru human # eggNOG COG0733 LUCA # eggNOG KOG3659 Eukaryota BLAST swissprot:S6A14_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S6A14_HUMAN BioCyc ZFISH:ENSG00000087916-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000087916-MONOMER COXPRESdb 11254 http://coxpresdb.jp/data/gene/11254.shtml CleanEx HS_SLC6A14 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC6A14 DOI 10.1038/nature03440 http://dx.doi.org/10.1038/nature03440 DOI 10.1074/jbc.274.34.23740 http://dx.doi.org/10.1074/jbc.274.34.23740 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1172/JCI200317491 http://dx.doi.org/10.1172/JCI200317491 DOI 10.1172/JCI200320448 http://dx.doi.org/10.1172/JCI200320448 DrugBank DB00172 http://www.drugbank.ca/drugs/DB00172 DrugBank DB00577 http://www.drugbank.ca/drugs/DB00577 DrugBank DB01610 http://www.drugbank.ca/drugs/DB01610 EMBL AF151978 http://www.ebi.ac.uk/ena/data/view/AF151978 EMBL AL034411 http://www.ebi.ac.uk/ena/data/view/AL034411 EMBL AL034411 http://www.ebi.ac.uk/ena/data/view/AL034411 EMBL BC093710 http://www.ebi.ac.uk/ena/data/view/BC093710 EMBL BC093712 http://www.ebi.ac.uk/ena/data/view/BC093712 EMBL Z96810 http://www.ebi.ac.uk/ena/data/view/Z96810 EMBL Z96810 http://www.ebi.ac.uk/ena/data/view/Z96810 Ensembl ENST00000598581 http://www.ensembl.org/id/ENST00000598581 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0031526 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031526 GO_component GO:0031982 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031982 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0005328 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005328 GO_function GO:0015171 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015171 GO_process GO:0006520 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006520 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0006865 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006865 GO_process GO:0009636 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009636 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006520 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006520 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GeneCards SLC6A14 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC6A14 GeneID 11254 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=11254 GeneTree ENSGT00760000118857 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118857 HGNC HGNC:11047 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11047 HOGENOM HOG000116406 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000116406&db=HOGENOM6 HOVERGEN HBG071421 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG071421&db=HOVERGEN HPA HPA003193 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA003193 InParanoid Q9UN76 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9UN76 InterPro IPR000175 http://www.ebi.ac.uk/interpro/entry/IPR000175 Jabion 11254 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=11254 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:11254 http://www.genome.jp/dbget-bin/www_bget?hsa:11254 KEGG_Orthology KO:K05038 http://www.genome.jp/dbget-bin/www_bget?KO:K05038 MIM 300444 http://www.ncbi.nlm.nih.gov/omim/300444 OMA FKCREKE http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=FKCREKE OrthoDB EOG091G08PX http://cegg.unige.ch/orthodb/results?searchtext=EOG091G08PX PANTHER PTHR11616 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11616 PRINTS PR00176 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00176 PROSITE PS00610 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00610 PROSITE PS00754 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00754 PROSITE PS50267 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50267 PSORT swissprot:S6A14_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S6A14_HUMAN PSORT-B swissprot:S6A14_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S6A14_HUMAN PSORT2 swissprot:S6A14_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S6A14_HUMAN Pfam PF00209 http://pfam.xfam.org/family/PF00209 PharmGKB PA35910 http://www.pharmgkb.org/do/serve?objId=PA35910&objCls=Gene Phobius swissprot:S6A14_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S6A14_HUMAN PhylomeDB Q9UN76 http://phylomedb.org/?seqid=Q9UN76 ProteinModelPortal Q9UN76 http://www.proteinmodelportal.org/query/uniprot/Q9UN76 PubMed 10446133 http://www.ncbi.nlm.nih.gov/pubmed/10446133 PubMed 14660737 http://www.ncbi.nlm.nih.gov/pubmed/14660737 PubMed 14660752 http://www.ncbi.nlm.nih.gov/pubmed/14660752 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15772651 http://www.ncbi.nlm.nih.gov/pubmed/15772651 Reactome R-HSA-352230 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-352230 Reactome R-HSA-442660 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-442660 RefSeq NP_009162 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_009162 STRING 9606.ENSP00000360967 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000360967&targetmode=cogs TCDB 2.A.22.2 http://www.tcdb.org/search/result.php?tc=2.A.22.2 UCSC uc033eru http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc033eru&org=rat UniGene Hs.522109 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.522109 UniProtKB S6A14_HUMAN http://www.uniprot.org/uniprot/S6A14_HUMAN UniProtKB-AC Q9UN76 http://www.uniprot.org/uniprot/Q9UN76 charge swissprot:S6A14_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S6A14_HUMAN eggNOG COG0733 http://eggnogapi.embl.de/nog_data/html/tree/COG0733 eggNOG KOG3659 http://eggnogapi.embl.de/nog_data/html/tree/KOG3659 epestfind swissprot:S6A14_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S6A14_HUMAN garnier swissprot:S6A14_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S6A14_HUMAN helixturnhelix swissprot:S6A14_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S6A14_HUMAN hmoment swissprot:S6A14_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S6A14_HUMAN iep swissprot:S6A14_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S6A14_HUMAN inforesidue swissprot:S6A14_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S6A14_HUMAN neXtProt NX_Q9UN76 http://www.nextprot.org/db/entry/NX_Q9UN76 octanol swissprot:S6A14_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S6A14_HUMAN pepcoil swissprot:S6A14_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S6A14_HUMAN pepdigest swissprot:S6A14_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S6A14_HUMAN pepinfo swissprot:S6A14_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S6A14_HUMAN pepnet swissprot:S6A14_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S6A14_HUMAN pepstats swissprot:S6A14_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S6A14_HUMAN pepwheel swissprot:S6A14_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S6A14_HUMAN pepwindow swissprot:S6A14_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S6A14_HUMAN sigcleave swissprot:S6A14_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S6A14_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S22AC_HUMAN Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q96S37-1; Sequence=Displayed; Name=2; IsoId=Q96S37-2; Sequence=VSP_028879; Name=3; IsoId=Q96S37-3; Sequence=VSP_054054; Name=4; IsoId=Q96S37-4; Sequence=VSP_054055; # AltName S22AC_HUMAN Organic anion transporter 4-like protein # AltName S22AC_HUMAN Renal-specific transporter # AltName S22AC_HUMAN Urate anion exchanger 1 # BioGrid 125471 4 # CCDS CCDS60835 -. [Q96S37-4] # CCDS CCDS60836 -. [Q96S37-2] # CCDS CCDS8075 -. [Q96S37-1] # CDD cd06174 MFS # DISEASE S22AC_HUMAN Hypouricemia renal 1 (RHUC1) [MIM 220150] A disorder characterized by impaired uric acid reabsorption at the apical membrane of proximal renal tubule cells, and high urinary urate excretion. Patients often appear asymptomatic, but may be subject to exercise-induced acute renal failure, chronic renal dysfunction and nephrolithiasis. {ECO 0000269|PubMed 12024214, ECO 0000269|PubMed 14694169, ECO 0000269|PubMed 15327384, ECO 0000269|PubMed 15634722, ECO 0000269|PubMed 15912381, ECO 0000269|PubMed 16837472, ECO 0000269|PubMed 26418379}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DrugBank DB00678 Losartan # DrugBank DB01032 Probenecid # Ensembl ENST00000336464 ENSP00000336836; ENSG00000197891. [Q96S37-4] # Ensembl ENST00000377567 ENSP00000366790; ENSG00000197891. [Q96S37-2] # Ensembl ENST00000377572 ENSP00000366795; ENSG00000197891. [Q96S37-2] # Ensembl ENST00000377574 ENSP00000366797; ENSG00000197891. [Q96S37-1] # Ensembl ENST00000473690 ENSP00000438437; ENSG00000197891. [Q96S37-3] # FUNCTION S22AC_HUMAN Required for efficient urate re-absorption in the kidney. Regulates blood urate levels. Mediates saturable urate uptake by facilitating the exchange of urate against organic anions. {ECO 0000269|PubMed 12024214}. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0016021 integral component of membrane; IDA:UniProtKB. # GO_component GO:0016324 apical plasma membrane; IDA:UniProtKB. # GO_component GO:0031526 brush border membrane; ISS:UniProtKB. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0005452 inorganic anion exchanger activity; IBA:GO_Central. # GO_function GO:0015143 urate transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0015347 sodium-independent organic anion transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0030165 PDZ domain binding; IPI:UniProtKB. # GO_process GO:0015747 urate transport; IDA:UniProtKB. # GO_process GO:0019725 cellular homeostasis; NAS:UniProtKB. # GO_process GO:0042493 response to drug; IDA:UniProtKB. # GO_process GO:0043252 sodium-independent organic anion transport; IBA:GO_Central. # GO_process GO:0046415 urate metabolic process; IMP:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0044281 small molecule metabolic process # Genevisible Q96S37 HS # HGNC HGNC:17989 SLC22A12 # InterPro IPR005828 MFS_sugar_transport-like # InterPro IPR020846 MFS_dom # KEGG_Brite ko02000 Transporters # KEGG_Brite ko02001 Solute carrier family # KEGG_Disease H00948 [Urinary system disease] Renal hypouricemia (RHUC) # MIM 220150 phenotype # MIM 607096 gene # Organism S22AC_HUMAN Homo sapiens (Human) # Orphanet 94088 Hereditary renal hypouricemia # PROSITE PS50850 MFS # Pfam PF00083 Sugar_tr # Proteomes UP000005640 Chromosome 11 # Reactome R-HSA-561048 Organic anion transport # RecName S22AC_HUMAN Solute carrier family 22 member 12 # RefSeq NP_001263255 NM_001276326.1. [Q96S37-4] # RefSeq NP_001263256 NM_001276327.1. [Q96S37-2] # RefSeq NP_653186 NM_144585.3. [Q96S37-1] # RefSeq NP_700357 NM_153378.2. [Q96S37-3] # SEQUENCE CAUTION Sequence=BAB68364.1; Type=Frameshift; Positions=84, 136; Evidence={ECO 0000305}; # SIMILARITY Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family. {ECO 0000305}. # SUBCELLULAR LOCATION S22AC_HUMAN Cell membrane {ECO 0000269|PubMed 12024214}; Multi-pass membrane protein {ECO 0000269|PubMed 12024214}. Note=Detected in the luminal membrane of the epithelium of renal proximal tubules. # SUBUNIT S22AC_HUMAN Interacts with PDZK1. {ECO 0000269|PubMed 14531806, ECO 0000269|PubMed 15304510}. # SUPFAM SSF103473 SSF103473 # TCDB 2.A.1.19.11 the major facilitator superfamily (mfs) # TISSUE SPECIFICITY S22AC_HUMAN Detected in kidney (at protein level). Detected in fetal and adult kidney. Detected in epithelial cells of proximal tubules in renal cortex. {ECO 0000269|PubMed 12024214, ECO 0000269|PubMed 15304510}. # UCSC uc001oal human. [Q96S37-1] # eggNOG COG0477 LUCA # eggNOG KOG0255 Eukaryota BLAST swissprot:S22AC_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S22AC_HUMAN BioCyc ZFISH:ENSG00000171239-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000171239-MONOMER COXPRESdb 116085 http://coxpresdb.jp/data/gene/116085.shtml CleanEx HS_SLC22A12 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC22A12 DOI 10.1002/art.21499 http://dx.doi.org/10.1002/art.21499 DOI 10.1007/s00467-005-1863-3 http://dx.doi.org/10.1007/s00467-005-1863-3 DOI 10.1038/nature04632 http://dx.doi.org/10.1038/nature04632 DOI 10.1038/nature742 http://dx.doi.org/10.1038/nature742 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1046/j.1523-1755.2003.00266.x http://dx.doi.org/10.1046/j.1523-1755.2003.00266.x DOI 10.1074/jbc.M406724200 http://dx.doi.org/10.1074/jbc.M406724200 DOI 10.1093/rheumatology/kel205 http://dx.doi.org/10.1093/rheumatology/kel205 DOI 10.1097/01.ASN.0000105320.04395.D0 http://dx.doi.org/10.1097/01.ASN.0000105320.04395.D0 DOI 10.1097/MAJ.0000000000000550 http://dx.doi.org/10.1097/MAJ.0000000000000550 DOI 10.1101/gr.1293003 http://dx.doi.org/10.1101/gr.1293003 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1523-1755.2004.00839.x http://dx.doi.org/10.1111/j.1523-1755.2004.00839.x DOI 10.1210/jc.2004-1111 http://dx.doi.org/10.1210/jc.2004-1111 DrugBank DB00678 http://www.drugbank.ca/drugs/DB00678 DrugBank DB01032 http://www.drugbank.ca/drugs/DB01032 EMBL AB050269 http://www.ebi.ac.uk/ena/data/view/AB050269 EMBL AB071863 http://www.ebi.ac.uk/ena/data/view/AB071863 EMBL AC044790 http://www.ebi.ac.uk/ena/data/view/AC044790 EMBL AK315061 http://www.ebi.ac.uk/ena/data/view/AK315061 EMBL AP001092 http://www.ebi.ac.uk/ena/data/view/AP001092 EMBL AY358183 http://www.ebi.ac.uk/ena/data/view/AY358183 EMBL BC053348 http://www.ebi.ac.uk/ena/data/view/BC053348 EMBL CH471076 http://www.ebi.ac.uk/ena/data/view/CH471076 EMBL CH471076 http://www.ebi.ac.uk/ena/data/view/CH471076 EMBL DQ514593 http://www.ebi.ac.uk/ena/data/view/DQ514593 EMBL DQ514594 http://www.ebi.ac.uk/ena/data/view/DQ514594 EMBL DQ514595 http://www.ebi.ac.uk/ena/data/view/DQ514595 EMBL DQ514596 http://www.ebi.ac.uk/ena/data/view/DQ514596 Ensembl ENST00000336464 http://www.ensembl.org/id/ENST00000336464 Ensembl ENST00000377567 http://www.ensembl.org/id/ENST00000377567 Ensembl ENST00000377572 http://www.ensembl.org/id/ENST00000377572 Ensembl ENST00000377574 http://www.ensembl.org/id/ENST00000377574 Ensembl ENST00000473690 http://www.ensembl.org/id/ENST00000473690 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:0031526 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031526 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0005452 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005452 GO_function GO:0015143 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015143 GO_function GO:0015347 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015347 GO_function GO:0030165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030165 GO_process GO:0015747 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015747 GO_process GO:0019725 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019725 GO_process GO:0042493 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042493 GO_process GO:0043252 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043252 GO_process GO:0046415 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046415 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GeneCards SLC22A12 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC22A12 GeneID 116085 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=116085 GeneTree ENSGT00760000118852 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118852 HGNC HGNC:17989 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:17989 HOVERGEN HBG108433 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG108433&db=HOVERGEN HPA HPA024575 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA024575 InParanoid Q96S37 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q96S37 IntAct Q96S37 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q96S37* InterPro IPR005828 http://www.ebi.ac.uk/interpro/entry/IPR005828 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 116085 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=116085 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Disease H00948 http://www.genome.jp/dbget-bin/www_bget?H00948 KEGG_Gene hsa:116085 http://www.genome.jp/dbget-bin/www_bget?hsa:116085 KEGG_Orthology KO:K08208 http://www.genome.jp/dbget-bin/www_bget?KO:K08208 MIM 220150 http://www.ncbi.nlm.nih.gov/omim/220150 MIM 607096 http://www.ncbi.nlm.nih.gov/omim/607096 OMA VRDWTLL http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=VRDWTLL Orphanet 94088 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=94088 OrthoDB EOG091G068G http://cegg.unige.ch/orthodb/results?searchtext=EOG091G068G PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PSORT swissprot:S22AC_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S22AC_HUMAN PSORT-B swissprot:S22AC_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S22AC_HUMAN PSORT2 swissprot:S22AC_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S22AC_HUMAN Pfam PF00083 http://pfam.xfam.org/family/PF00083 PharmGKB PA38478 http://www.pharmgkb.org/do/serve?objId=PA38478&objCls=Gene Phobius swissprot:S22AC_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S22AC_HUMAN PhylomeDB Q96S37 http://phylomedb.org/?seqid=Q96S37 ProteinModelPortal Q96S37 http://www.proteinmodelportal.org/query/uniprot/Q96S37 PubMed 12024214 http://www.ncbi.nlm.nih.gov/pubmed/12024214 PubMed 12975309 http://www.ncbi.nlm.nih.gov/pubmed/12975309 PubMed 14531806 http://www.ncbi.nlm.nih.gov/pubmed/14531806 PubMed 14694169 http://www.ncbi.nlm.nih.gov/pubmed/14694169 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15304510 http://www.ncbi.nlm.nih.gov/pubmed/15304510 PubMed 15327384 http://www.ncbi.nlm.nih.gov/pubmed/15327384 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15634722 http://www.ncbi.nlm.nih.gov/pubmed/15634722 PubMed 15912381 http://www.ncbi.nlm.nih.gov/pubmed/15912381 PubMed 16385546 http://www.ncbi.nlm.nih.gov/pubmed/16385546 PubMed 16554811 http://www.ncbi.nlm.nih.gov/pubmed/16554811 PubMed 16837472 http://www.ncbi.nlm.nih.gov/pubmed/16837472 PubMed 26418379 http://www.ncbi.nlm.nih.gov/pubmed/26418379 Reactome R-HSA-561048 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-561048 RefSeq NP_001263255 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001263255 RefSeq NP_001263256 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001263256 RefSeq NP_653186 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_653186 RefSeq NP_700357 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_700357 STRING 9606.ENSP00000366797 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000366797&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.1.19.11 http://www.tcdb.org/search/result.php?tc=2.A.1.19.11 UCSC uc001oal http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001oal&org=rat UniGene Hs.174424 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.174424 UniGene Hs.700182 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.700182 UniProtKB S22AC_HUMAN http://www.uniprot.org/uniprot/S22AC_HUMAN UniProtKB-AC Q96S37 http://www.uniprot.org/uniprot/Q96S37 charge swissprot:S22AC_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S22AC_HUMAN eggNOG COG0477 http://eggnogapi.embl.de/nog_data/html/tree/COG0477 eggNOG KOG0255 http://eggnogapi.embl.de/nog_data/html/tree/KOG0255 epestfind swissprot:S22AC_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S22AC_HUMAN garnier swissprot:S22AC_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S22AC_HUMAN helixturnhelix swissprot:S22AC_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S22AC_HUMAN hmoment swissprot:S22AC_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S22AC_HUMAN iep swissprot:S22AC_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S22AC_HUMAN inforesidue swissprot:S22AC_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S22AC_HUMAN neXtProt NX_Q96S37 http://www.nextprot.org/db/entry/NX_Q96S37 octanol swissprot:S22AC_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S22AC_HUMAN pepcoil swissprot:S22AC_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S22AC_HUMAN pepdigest swissprot:S22AC_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S22AC_HUMAN pepinfo swissprot:S22AC_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S22AC_HUMAN pepnet swissprot:S22AC_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S22AC_HUMAN pepstats swissprot:S22AC_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S22AC_HUMAN pepwheel swissprot:S22AC_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S22AC_HUMAN pepwindow swissprot:S22AC_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S22AC_HUMAN sigcleave swissprot:S22AC_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S22AC_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS TAP2_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q03519-1; Sequence=Displayed; Name=2; IsoId=Q03519-2; Sequence=VSP_038904; # AltName TAP2_HUMAN ATP-binding cassette sub-family B member 3 # AltName TAP2_HUMAN Peptide supply factor 2 # AltName TAP2_HUMAN Peptide transporter PSF2 # AltName TAP2_HUMAN Peptide transporter TAP2 # AltName TAP2_HUMAN Peptide transporter involved in antigen processing 2 # AltName TAP2_HUMAN Really interesting new gene 11 protein # BRENDA 3.6.3.43 2681 # BioGrid 112754 28 # CCDS CCDS4755 -. [Q03519-2] # CCDS CCDS78129 -. [Q03519-1] # DISEASE TAP2_HUMAN Bare lymphocyte syndrome 1 (BLS1) [MIM 604571] A HLA class I deficiency. Contrary to bare lymphocyte syndromes type 2 and type 3, which are characterized by early-onset severe combined immunodeficiency, class I antigen deficiencies are not accompanied by particular pathologic manifestations during the first years of life. Systemic infections have not been described. Chronic bacterial infections, often beginning in the first decade of life, are restricted to the respiratory tract. {ECO 0000269|PubMed 7517574}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DOMAIN TAP2_HUMAN The peptide-binding site is shared between the cytoplasmic loops of TAP1 and TAP2. # Ensembl ENST00000374897 ENSP00000364032; ENSG00000204267. [Q03519-1] # Ensembl ENST00000374899 ENSP00000364034; ENSG00000204267. [Q03519-2] # Ensembl ENST00000383118 ENSP00000372599; ENSG00000206235. [Q03519-1] # Ensembl ENST00000383119 ENSP00000372600; ENSG00000206235. [Q03519-2] # Ensembl ENST00000383239 ENSP00000372726; ENSG00000206299. [Q03519-1] # Ensembl ENST00000383240 ENSP00000372727; ENSG00000206299. [Q03519-2] # Ensembl ENST00000414145 ENSP00000401377; ENSG00000228582. [Q03519-2] # Ensembl ENST00000419142 ENSP00000390013; ENSG00000237599 # Ensembl ENST00000426977 ENSP00000387553; ENSG00000232326. [Q03519-2] # Ensembl ENST00000439425 ENSP00000396156; ENSG00000225967. [Q03519-2] # Ensembl ENST00000443713 ENSP00000394101; ENSG00000228582. [Q03519-1] # Ensembl ENST00000451907 ENSP00000392172; ENSG00000223481. [Q03519-2] # ExpressionAtlas Q03519 baseline and differential # FUNCTION TAP2_HUMAN Involved in the transport of antigens from the cytoplasm to the endoplasmic reticulum for association with MHC class I molecules. Also acts as a molecular scaffold for the final stage of MHC class I folding, namely the binding of peptide. Nascent MHC class I molecules associate with TAP via tapasin. Inhibited by the covalent attachment of herpes simplex virus ICP47 protein, which blocks the peptide-binding site of TAP. Inhibited by human cytomegalovirus US6 glycoprotein, which binds to the lumenal side of the TAP complex and inhibits peptide translocation by specifically blocking ATP-binding to TAP1 and prevents the conformational rearrangement of TAP induced by peptide binding. Inhibited by human adenovirus E3-19K glycoprotein, which binds the TAP complex and acts as a tapasin inhibitor, preventing MHC class I/TAP association. # GO_component GO:0005789 endoplasmic reticulum membrane; TAS:Reactome. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; IDA:UniProtKB. # GO_component GO:0030176 integral component of endoplasmic reticulum membrane; IDA:UniProtKB. # GO_component GO:0042825 TAP complex; IDA:UniProtKB. # GO_component GO:0043657 host cell; IEA:GOC. # GO_function GO:0005215 transporter activity; IDA:MGI. # GO_function GO:0005524 ATP binding; IDA:UniProtKB. # GO_function GO:0015197 peptide transporter activity; IEA:InterPro. # GO_function GO:0015433 peptide antigen-transporting ATPase activity; IMP:UniProtKB. # GO_function GO:0023029 MHC class Ib protein binding; IPI:UniProtKB. # GO_function GO:0046978 TAP1 binding; IPI:UniProtKB. # GO_function GO:0046980 tapasin binding; ISS:UniProtKB. # GO_process GO:0002250 adaptive immune response; IEA:UniProtKB-KW. # GO_process GO:0002474 antigen processing and presentation of peptide antigen via MHC class I; TAS:Reactome. # GO_process GO:0002481 antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent; IBA:GO_Central. # GO_process GO:0002485 antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent; IBA:GO_Central. # GO_process GO:0002489 antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent; IMP:UniProtKB. # GO_process GO:0002591 positive regulation of antigen processing and presentation of peptide antigen via MHC class I; IBA:GO_Central. # GO_process GO:0019060 intracellular transport of viral protein in host cell; IMP:UniProtKB. # GO_process GO:0019885 antigen processing and presentation of endogenous peptide antigen via MHC class I; IDA:UniProtKB. # GO_process GO:0046967 cytosol to ER transport; IMP:UniProtKB. # GO_process GO:0046968 peptide antigen transport; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0002376 immune system process # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0044403 symbiosis, encompassing mutualism through parasitism # Gene3D 3.40.50.300 -; 1. # Genevisible Q03519 HS # HGNC HGNC:44 TAP2 # INDUCTION TAP2_HUMAN By IFNG/IFN-gamma. # INTERACTION TAP2_HUMAN P0C739 BNLF2a (xeno); NbExp=6; IntAct=EBI-780781, EBI-9346744; Q77CE4 gN (xeno); NbExp=2; IntAct=EBI-780781, EBI-11303846; Q03518 TAP1; NbExp=15; IntAct=EBI-780781, EBI-747259; O15533 TAPBP; NbExp=8; IntAct=EBI-780781, EBI-874801; # IntAct Q03519 22 # InterPro IPR003439 ABC_transporter-like # InterPro IPR003593 AAA+_ATPase # InterPro IPR005293 Tap2/ABCB3 # InterPro IPR011527 ABC1_TM_dom # InterPro IPR013305 ABC_Tap-like # InterPro IPR017871 ABC_transporter_CS # InterPro IPR027417 P-loop_NTPase # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02000 Transporters # KEGG_Disease H00093 [Primary immunodeficiency] CD8 deficiency # KEGG_Disease H00984 [Inherited metabolic disease; Immune system disease] Bare lymphocyte syndrome (BLS) type1 # KEGG_Pathway ko02010 ABC transporters # KEGG_Pathway ko04145 Phagosome # KEGG_Pathway ko04612 Antigen processing and presentation # KEGG_Pathway ko05168 Herpes simplex infection # KEGG_Pathway ko05340 Primary immunodeficiency # MIM 170261 gene # MIM 604571 phenotype # Organism TAP2_HUMAN Homo sapiens (Human) # Orphanet 34592 Immunodeficiency by defective expression of HLA class 1 # PIR B41538 B41538 # POLYMORPHISM TAP2_HUMAN 4 common alleles are officially recognized TAP2*01 01 (TAP2A or PSF2A or RING11A), TAP2*01 02 (TAP2E), TAP2*01 03 (TAP2F), and TAP2*02 01 (TAP2B or PSF2B or RING11B). Other relatively common alleles have been identified TAP2*01D, TAP2*01E, TAP2*01F, TAP2*01G, TAP2*01H, TAP2*02B, TAP2*02C (TAP2*02 02), TAP2*02D, TAP2*02E, TAP2*02F, TAP2*03A and TAP2*04A. The sequence shown is that of TAP2*01 01. {ECO 0000269|PubMed 11294565, ECO 0000269|PubMed 1453454, ECO 0000269|PubMed 1741401, ECO 0000269|PubMed 1946428, ECO 0000269|PubMed 8428770, ECO 0000269|PubMed 8568858}. # POLYMORPHISM The allele TAP2*Bky2 is commonly found only in the Japanese population. It may be associated with susceptibility to Sjoegren syndrome, an autoimmune disorder characterized by abnormal dryness of the conjunctiva, cornea and mouth due to exocrine glands dysfunction. {ECO:0000269|PubMed 9324024}. # PRINTS PR01897 TAP2PROTEIN # PROSITE PS00211 ABC_TRANSPORTER_1 # PROSITE PS50893 ABC_TRANSPORTER_2 # PROSITE PS50929 ABC_TM1F # Pfam PF00005 ABC_tran # Pfam PF00664 ABC_membrane # Proteomes UP000005640 Chromosome 6 # Reactome R-HSA-1236974 ER-Phagosome pathway # Reactome R-HSA-983170:Antigen Presentation Folding, assembly and peptide loading of class I MHC # RecName TAP2_HUMAN Antigen peptide transporter 2 # RefSeq NP_000535 NM_000544.3 # RefSeq NP_001276972 NM_001290043.1. [Q03519-1] # RefSeq NP_061313 NM_018833.2. [Q03519-2] # SIMILARITY Belongs to the ABC transporter superfamily. ABCB family. MHC peptide exporter (TC 3.A.1.209) subfamily. {ECO 0000305}. # SIMILARITY Contains 1 ABC transmembrane type-1 domain. {ECO:0000255|PROSITE-ProRule PRU00441}. # SIMILARITY Contains 1 ABC transporter domain. {ECO:0000255|PROSITE-ProRule PRU00434}. # SMART SM00382 AAA # SUBCELLULAR LOCATION TAP2_HUMAN Endoplasmic reticulum membrane; Multi-pass membrane protein. Note=The transmembrane segments seem to form a pore in the membrane. # SUBUNIT TAP2_HUMAN Heterodimer of TAP1 and TAP2. Interacts with Epstein-Barr virus BLNF2a. Interacts with herpes simplex virus ICP47 (PubMed 7760936). {ECO 0000269|PubMed 19201886, ECO 0000269|PubMed 7760936}. # SUPFAM SSF52540 SSF52540 # SUPFAM SSF90123 SSF90123 # TCDB 3.A.1.209 the atp-binding cassette (abc) superfamily # TIGRFAMs TIGR00958 3a01208 # TopDownProteomics Q03519-2 -. [Q03519-2] # UCSC uc063yci human. [Q03519-1] # WEB RESOURCE TAP2_HUMAN Name=ABCMdb; Note=Database for mutations in ABC proteins; URL="http //abcmutations.hegelab.org/proteinDetails?uniprot_id=Q03519"; # WEB RESOURCE TAP2_HUMAN Name=TAP2base; Note=TAP2 mutation db; URL="http //structure.bmc.lu.se/idbase/TAP2base/"; # eggNOG COG1132 LUCA # eggNOG KOG0058 Eukaryota BLAST swissprot:TAP2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:TAP2_HUMAN BioCyc ZFISH:ENSG00000080469-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000080469-MONOMER COXPRESdb 6891 http://coxpresdb.jp/data/gene/6891.shtml CleanEx HS_TAP2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_TAP2 DIP DIP-322N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-322N DOI 10.1002/art.1780400919 http://dx.doi.org/10.1002/art.1780400919 DOI 10.1006/jmbi.1996.0001 http://dx.doi.org/10.1006/jmbi.1996.0001 DOI 10.1007/BF00216802 http://dx.doi.org/10.1007/BF00216802 DOI 10.1016/0022-2836(92)90832-5 http://dx.doi.org/10.1016/0022-2836(92)90832-5 DOI 10.1016/S1074-7613(00)80349-0 http://dx.doi.org/10.1016/S1074-7613(00)80349-0 DOI 10.1038/375415a0 http://dx.doi.org/10.1038/375415a0 DOI 10.1038/nature02055 http://dx.doi.org/10.1038/nature02055 DOI 10.1038/sj.gene.6363731 http://dx.doi.org/10.1038/sj.gene.6363731 DOI 10.1073/pnas.88.22.10094 http://dx.doi.org/10.1073/pnas.88.22.10094 DOI 10.1073/pnas.89.4.1463 http://dx.doi.org/10.1073/pnas.89.4.1463 DOI 10.1073/pnas.89.9.3932 http://dx.doi.org/10.1073/pnas.89.9.3932 DOI 10.1093/emboj/20.3.387 http://dx.doi.org/10.1093/emboj/20.3.387 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1399-0039.1995.tb02431.x http://dx.doi.org/10.1111/j.1399-0039.1995.tb02431.x DOI 10.1111/j.1399-0039.1998.tb02992.x http://dx.doi.org/10.1111/j.1399-0039.1998.tb02992.x DOI 10.1126/science.7517574 http://dx.doi.org/10.1126/science.7517574 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DOI 10.4049/jimmunol.0803218 http://dx.doi.org/10.4049/jimmunol.0803218 EMBL AB073779 http://www.ebi.ac.uk/ena/data/view/AB073779 EMBL AF105151 http://www.ebi.ac.uk/ena/data/view/AF105151 EMBL AH007554 http://www.ebi.ac.uk/ena/data/view/AH007554 EMBL AK222823 http://www.ebi.ac.uk/ena/data/view/AK222823 EMBL AK223300 http://www.ebi.ac.uk/ena/data/view/AK223300 EMBL BC002751 http://www.ebi.ac.uk/ena/data/view/BC002751 EMBL BX296564 http://www.ebi.ac.uk/ena/data/view/BX296564 EMBL BX682530 http://www.ebi.ac.uk/ena/data/view/BX682530 EMBL CR753889 http://www.ebi.ac.uk/ena/data/view/CR753889 EMBL CR762476 http://www.ebi.ac.uk/ena/data/view/CR762476 EMBL CR788227 http://www.ebi.ac.uk/ena/data/view/CR788227 EMBL CT009502 http://www.ebi.ac.uk/ena/data/view/CT009502 EMBL L09191 http://www.ebi.ac.uk/ena/data/view/L09191 EMBL L10287 http://www.ebi.ac.uk/ena/data/view/L10287 EMBL M74447 http://www.ebi.ac.uk/ena/data/view/M74447 EMBL M84748 http://www.ebi.ac.uk/ena/data/view/M84748 EMBL U07844 http://www.ebi.ac.uk/ena/data/view/U07844 EMBL X66401 http://www.ebi.ac.uk/ena/data/view/X66401 EMBL X87344 http://www.ebi.ac.uk/ena/data/view/X87344 EMBL Z22935 http://www.ebi.ac.uk/ena/data/view/Z22935 EMBL Z22936 http://www.ebi.ac.uk/ena/data/view/Z22936 Ensembl ENST00000374897 http://www.ensembl.org/id/ENST00000374897 Ensembl ENST00000374899 http://www.ensembl.org/id/ENST00000374899 Ensembl ENST00000383118 http://www.ensembl.org/id/ENST00000383118 Ensembl ENST00000383119 http://www.ensembl.org/id/ENST00000383119 Ensembl ENST00000383239 http://www.ensembl.org/id/ENST00000383239 Ensembl ENST00000383240 http://www.ensembl.org/id/ENST00000383240 Ensembl ENST00000414145 http://www.ensembl.org/id/ENST00000414145 Ensembl ENST00000419142 http://www.ensembl.org/id/ENST00000419142 Ensembl ENST00000426977 http://www.ensembl.org/id/ENST00000426977 Ensembl ENST00000439425 http://www.ensembl.org/id/ENST00000439425 Ensembl ENST00000443713 http://www.ensembl.org/id/ENST00000443713 Ensembl ENST00000451907 http://www.ensembl.org/id/ENST00000451907 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005789 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005789 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0030176 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030176 GO_component GO:0042825 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042825 GO_component GO:0043657 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043657 GO_function GO:0005215 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005215 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0015197 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015197 GO_function GO:0015433 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015433 GO_function GO:0023029 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0023029 GO_function GO:0046978 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046978 GO_function GO:0046980 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046980 GO_process GO:0002250 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002250 GO_process GO:0002474 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002474 GO_process GO:0002481 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002481 GO_process GO:0002485 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002485 GO_process GO:0002489 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002489 GO_process GO:0002591 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002591 GO_process GO:0019060 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019060 GO_process GO:0019885 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019885 GO_process GO:0046967 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046967 GO_process GO:0046968 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046968 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0002376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002376 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0044403 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044403 Gene3D 3.40.50.300 http://www.cathdb.info/version/latest/superfamily/3.40.50.300 GeneCards TAP2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=TAP2 GeneID 6891 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6891 GeneTree ENSGT00550000074497 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074497 H-InvDB HIX0005757 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0005757 H-InvDB HIX0166631 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0166631 H-InvDB HIX0166883 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0166883 H-InvDB HIX0167147 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0167147 HGNC HGNC:44 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:44 HOVERGEN HBG008358 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG008358&db=HOVERGEN HPA HPA001312 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA001312 InParanoid Q03519 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q03519 IntAct Q03519 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q03519* InterPro IPR003439 http://www.ebi.ac.uk/interpro/entry/IPR003439 InterPro IPR003593 http://www.ebi.ac.uk/interpro/entry/IPR003593 InterPro IPR005293 http://www.ebi.ac.uk/interpro/entry/IPR005293 InterPro IPR011527 http://www.ebi.ac.uk/interpro/entry/IPR011527 InterPro IPR013305 http://www.ebi.ac.uk/interpro/entry/IPR013305 InterPro IPR017871 http://www.ebi.ac.uk/interpro/entry/IPR017871 InterPro IPR027417 http://www.ebi.ac.uk/interpro/entry/IPR027417 Jabion 6891 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6891 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Disease H00093 http://www.genome.jp/dbget-bin/www_bget?H00093 KEGG_Disease H00984 http://www.genome.jp/dbget-bin/www_bget?H00984 KEGG_Gene hsa:6891 http://www.genome.jp/dbget-bin/www_bget?hsa:6891 KEGG_Orthology KO:K05654 http://www.genome.jp/dbget-bin/www_bget?KO:K05654 KEGG_Pathway ko02010 http://www.genome.jp/kegg-bin/show_pathway?ko02010 KEGG_Pathway ko04145 http://www.genome.jp/kegg-bin/show_pathway?ko04145 KEGG_Pathway ko04612 http://www.genome.jp/kegg-bin/show_pathway?ko04612 KEGG_Pathway ko05168 http://www.genome.jp/kegg-bin/show_pathway?ko05168 KEGG_Pathway ko05340 http://www.genome.jp/kegg-bin/show_pathway?ko05340 MIM 170261 http://www.ncbi.nlm.nih.gov/omim/170261 MIM 604571 http://www.ncbi.nlm.nih.gov/omim/604571 MINT MINT-2838244 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-2838244 Orphanet 34592 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=34592 PRINTS PR01897 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01897 PROSITE PS00211 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00211 PROSITE PS50893 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50893 PROSITE PS50929 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50929 PSORT swissprot:TAP2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:TAP2_HUMAN PSORT-B swissprot:TAP2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:TAP2_HUMAN PSORT2 swissprot:TAP2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:TAP2_HUMAN Pfam PF00005 http://pfam.xfam.org/family/PF00005 Pfam PF00664 http://pfam.xfam.org/family/PF00664 PharmGKB PA35022 http://www.pharmgkb.org/do/serve?objId=PA35022&objCls=Gene Phobius swissprot:TAP2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:TAP2_HUMAN PhylomeDB Q03519 http://phylomedb.org/?seqid=Q03519 ProteinModelPortal Q03519 http://www.proteinmodelportal.org/query/uniprot/Q03519 PubMed 10227971 http://www.ncbi.nlm.nih.gov/pubmed/10227971 PubMed 11157746 http://www.ncbi.nlm.nih.gov/pubmed/11157746 PubMed 11294565 http://www.ncbi.nlm.nih.gov/pubmed/11294565 PubMed 1453454 http://www.ncbi.nlm.nih.gov/pubmed/1453454 PubMed 14574404 http://www.ncbi.nlm.nih.gov/pubmed/14574404 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 1570316 http://www.ncbi.nlm.nih.gov/pubmed/1570316 PubMed 1741401 http://www.ncbi.nlm.nih.gov/pubmed/1741401 PubMed 19201886 http://www.ncbi.nlm.nih.gov/pubmed/19201886 PubMed 1946428 http://www.ncbi.nlm.nih.gov/pubmed/1946428 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 7517574 http://www.ncbi.nlm.nih.gov/pubmed/7517574 PubMed 7760936 http://www.ncbi.nlm.nih.gov/pubmed/7760936 PubMed 7792761 http://www.ncbi.nlm.nih.gov/pubmed/7792761 PubMed 8162639 http://www.ncbi.nlm.nih.gov/pubmed/8162639 PubMed 8428770 http://www.ncbi.nlm.nih.gov/pubmed/8428770 PubMed 8568858 http://www.ncbi.nlm.nih.gov/pubmed/8568858 PubMed 8670825 http://www.ncbi.nlm.nih.gov/pubmed/8670825 PubMed 8955196 http://www.ncbi.nlm.nih.gov/pubmed/8955196 PubMed 9175839 http://www.ncbi.nlm.nih.gov/pubmed/9175839 PubMed 9324024 http://www.ncbi.nlm.nih.gov/pubmed/9324024 PubMed 9672156 http://www.ncbi.nlm.nih.gov/pubmed/9672156 PubMed 9916708 http://www.ncbi.nlm.nih.gov/pubmed/9916708 Reactome R-HSA-1236974 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1236974 Reactome R-HSA-983170 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-983170 RefSeq NP_000535 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000535 RefSeq NP_001276972 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001276972 RefSeq NP_061313 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_061313 SMART SM00382 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00382 SMR Q03519 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q03519 STRING 9606.ENSP00000364034 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000364034&targetmode=cogs SUPFAM SSF52540 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52540 SUPFAM SSF90123 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF90123 TCDB 3.A.1.209 http://www.tcdb.org/search/result.php?tc=3.A.1.209 TIGRFAMs TIGR00958 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00958 UCSC uc063yci http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc063yci&org=rat UniGene Hs.502 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.502 UniProtKB TAP2_HUMAN http://www.uniprot.org/uniprot/TAP2_HUMAN UniProtKB-AC Q03519 http://www.uniprot.org/uniprot/Q03519 charge swissprot:TAP2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:TAP2_HUMAN eggNOG COG1132 http://eggnogapi.embl.de/nog_data/html/tree/COG1132 eggNOG KOG0058 http://eggnogapi.embl.de/nog_data/html/tree/KOG0058 epestfind swissprot:TAP2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:TAP2_HUMAN garnier swissprot:TAP2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:TAP2_HUMAN helixturnhelix swissprot:TAP2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:TAP2_HUMAN hmoment swissprot:TAP2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:TAP2_HUMAN iep swissprot:TAP2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:TAP2_HUMAN inforesidue swissprot:TAP2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:TAP2_HUMAN neXtProt NX_Q03519 http://www.nextprot.org/db/entry/NX_Q03519 octanol swissprot:TAP2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:TAP2_HUMAN pepcoil swissprot:TAP2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:TAP2_HUMAN pepdigest swissprot:TAP2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:TAP2_HUMAN pepinfo swissprot:TAP2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:TAP2_HUMAN pepnet swissprot:TAP2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:TAP2_HUMAN pepstats swissprot:TAP2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:TAP2_HUMAN pepwheel swissprot:TAP2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:TAP2_HUMAN pepwindow swissprot:TAP2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:TAP2_HUMAN sigcleave swissprot:TAP2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:TAP2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS RHBG_HUMAN Event=Alternative splicing; Named isoforms=5; Name=1; IsoId=Q9H310-1; Sequence=Displayed; Name=2; Synonyms=RhBG-2A; IsoId=Q9H310-2; Sequence=VSP_024341, VSP_024342; Note=No experimental confirmation available.; Name=3; IsoId=Q9H310-3; Sequence=VSP_024340, VSP_024343; Note=No experimental confirmation available.; Name=4; Synonyms=RhBG-1A; IsoId=Q9H310-4; Sequence=VSP_024340; Name=5; IsoId=Q9H310-5; Sequence=VSP_024340, VSP_037136; # AltName RHBG_HUMAN Rhesus blood group family type B glycoprotein # DEVELOPMENTAL STAGE Fetally expressed by kidney and to a lower extent in liver. {ECO:0000269|PubMed 11024028}. # Ensembl ENST00000537040 ENSP00000441197; ENSG00000132677 # ExpressionAtlas Q9H310 baseline and differential # FUNCTION RHBG_HUMAN Functions as a specific ammonium transporter. {ECO 0000269|PubMed 15284342, ECO 0000269|PubMed 15929723}. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0005887 integral component of plasma membrane; IDA:UniProtKB. # GO_component GO:0014731 spectrin-associated cytoskeleton; IMP:UniProtKB. # GO_component GO:0016323 basolateral plasma membrane; IDA:UniProtKB. # GO_component GO:0030659 cytoplasmic vesicle membrane; IEA:UniProtKB-SubCell. # GO_component GO:0046658 anchored component of plasma membrane; IMP:UniProtKB. # GO_function GO:0008519 ammonium transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0030506 ankyrin binding; IPI:UniProtKB. # GO_process GO:0015695 organic cation transport; IBA:GO_Central. # GO_process GO:0015696 ammonium transport; IDA:UniProtKB. # GO_process GO:0019740 nitrogen utilization; IBA:GO_Central. # GO_process GO:0070634 transepithelial ammonium transport; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005856 cytoskeleton # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0008092 cytoskeletal protein binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # Gene3D 1.10.3430.10 -; 1. # Genevisible Q9H310 HS # HGNC HGNC:14572 RHBG # IntAct Q9H310 2 # InterPro IPR001905 Ammonium_transpt # InterPro IPR002229 RhesusRHD # InterPro IPR024041 NH4_transpt_AmtB-like_dom # InterPro IPR029020 Ammonium/urea_transptr # KEGG_Brite ko02001 Solute carrier family # KEGG_Brite ko04090 Cellular antigens # MIM 607079 gene # Organism RHBG_HUMAN Homo sapiens (Human) # PANTHER PTHR11730 PTHR11730 # PRINTS PR00342 RHESUSRHD # PTM RHBG_HUMAN N-glycosylated. {ECO 0000250}. # Pfam PF00909 Ammonium_transp # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-444411 Rhesus glycoproteins mediate ammonium transport # RecName RHBG_HUMAN Ammonium transporter Rh type B # RefSeq NP_001243324 NM_001256395.1 # RefSeq NP_001243325 NM_001256396.1 # RefSeq NP_065140 NM_020407.4 # SEQUENCE CAUTION RHBG_HUMAN Sequence=AAG01086.1; Type=Frameshift; Positions=425; Evidence={ECO 0000305}; Sequence=AAL05978.1; Type=Frameshift; Positions=425; Evidence={ECO 0000305}; Sequence=AAN34363.1; Type=Frameshift; Positions=425; Evidence={ECO 0000305}; Sequence=AAN34364.1; Type=Frameshift; Positions=425; Evidence={ECO 0000305}; # SIMILARITY Belongs to the ammonium transporter (TC 2.A.49) family. Rh subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION RHBG_HUMAN Basolateral cell membrane; Multi-pass membrane protein. Cytoplasmic vesicle membrane; Multi-pass membrane protein. # SUBUNIT Interacts (via C-terminus) with ANK2 and ANK3; required for targeting to the basolateral membrane. {ECO:0000269|PubMed 15611082}. # SUPFAM SSF111352 SSF111352 # TCDB 1.A.11.4 the ammonium transporter channel (amt) family # TISSUE SPECIFICITY Specifically expressed in kidney. Also detected in liver and ovary. {ECO:0000269|PubMed 11024028}. # UCSC uc031vbi human. [Q9H310-1] # eggNOG ENOG410XTF8 LUCA # eggNOG KOG3796 Eukaryota BLAST swissprot:RHBG_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:RHBG_HUMAN BioCyc ZFISH:ENSG00000132677-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000132677-MONOMER COXPRESdb 57127 http://coxpresdb.jp/data/gene/57127.shtml DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1042/BJ20050657 http://dx.doi.org/10.1042/BJ20050657 DOI 10.1074/jbc.M007528200 http://dx.doi.org/10.1074/jbc.M007528200 DOI 10.1074/jbc.M413351200 http://dx.doi.org/10.1074/jbc.M413351200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1113/jphysiol.2004.067728 http://dx.doi.org/10.1113/jphysiol.2004.067728 EMBL AF193807 http://www.ebi.ac.uk/ena/data/view/AF193807 EMBL AF219977 http://www.ebi.ac.uk/ena/data/view/AF219977 EMBL AF219978 http://www.ebi.ac.uk/ena/data/view/AF219978 EMBL AF219979 http://www.ebi.ac.uk/ena/data/view/AF219979 EMBL AF219980 http://www.ebi.ac.uk/ena/data/view/AF219980 EMBL AK054780 http://www.ebi.ac.uk/ena/data/view/AK054780 EMBL AK290840 http://www.ebi.ac.uk/ena/data/view/AK290840 EMBL AL139130 http://www.ebi.ac.uk/ena/data/view/AL139130 EMBL AL139130 http://www.ebi.ac.uk/ena/data/view/AL139130 EMBL AL139130 http://www.ebi.ac.uk/ena/data/view/AL139130 EMBL AL139130 http://www.ebi.ac.uk/ena/data/view/AL139130 EMBL AL139130 http://www.ebi.ac.uk/ena/data/view/AL139130 EMBL AL139130 http://www.ebi.ac.uk/ena/data/view/AL139130 EMBL AL589685 http://www.ebi.ac.uk/ena/data/view/AL589685 EMBL AL589685 http://www.ebi.ac.uk/ena/data/view/AL589685 EMBL AL589685 http://www.ebi.ac.uk/ena/data/view/AL589685 EMBL AL589685 http://www.ebi.ac.uk/ena/data/view/AL589685 EMBL AL589685 http://www.ebi.ac.uk/ena/data/view/AL589685 EMBL AL589685 http://www.ebi.ac.uk/ena/data/view/AL589685 EMBL AY139092 http://www.ebi.ac.uk/ena/data/view/AY139092 EMBL AY139093 http://www.ebi.ac.uk/ena/data/view/AY139093 EMBL BC065218 http://www.ebi.ac.uk/ena/data/view/BC065218 EMBL CH471121 http://www.ebi.ac.uk/ena/data/view/CH471121 Ensembl ENST00000537040 http://www.ensembl.org/id/ENST00000537040 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0014731 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014731 GO_component GO:0016323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016323 GO_component GO:0030659 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030659 GO_component GO:0046658 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046658 GO_function GO:0008519 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008519 GO_function GO:0030506 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030506 GO_process GO:0015695 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015695 GO_process GO:0015696 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015696 GO_process GO:0019740 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019740 GO_process GO:0070634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070634 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005856 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0008092 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008092 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 Gene3D 1.10.3430.10 http://www.cathdb.info/version/latest/superfamily/1.10.3430.10 GeneCards RHBG http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=RHBG GeneID 57127 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=57127 HGNC HGNC:14572 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:14572 HOVERGEN HBG004374 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG004374&db=HOVERGEN HPA HPA042726 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA042726 HPA HPA048489 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA048489 InParanoid Q9H310 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9H310 IntAct Q9H310 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9H310* InterPro IPR001905 http://www.ebi.ac.uk/interpro/entry/IPR001905 InterPro IPR002229 http://www.ebi.ac.uk/interpro/entry/IPR002229 InterPro IPR024041 http://www.ebi.ac.uk/interpro/entry/IPR024041 InterPro IPR029020 http://www.ebi.ac.uk/interpro/entry/IPR029020 Jabion 57127 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=57127 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Brite ko04090 http://www.genome.jp/dbget-bin/www_bget?ko04090 KEGG_Gene hsa:57127 http://www.genome.jp/dbget-bin/www_bget?hsa:57127 KEGG_Orthology KO:K06580 http://www.genome.jp/dbget-bin/www_bget?KO:K06580 MIM 607079 http://www.ncbi.nlm.nih.gov/omim/607079 OrthoDB EOG091G06KX http://cegg.unige.ch/orthodb/results?searchtext=EOG091G06KX PANTHER PTHR11730 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11730 PRINTS PR00342 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00342 PSORT swissprot:RHBG_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:RHBG_HUMAN PSORT-B swissprot:RHBG_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:RHBG_HUMAN PSORT2 swissprot:RHBG_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:RHBG_HUMAN Pfam PF00909 http://pfam.xfam.org/family/PF00909 PharmGKB PA34385 http://www.pharmgkb.org/do/serve?objId=PA34385&objCls=Gene Phobius swissprot:RHBG_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:RHBG_HUMAN PhylomeDB Q9H310 http://phylomedb.org/?seqid=Q9H310 ProteinModelPortal Q9H310 http://www.proteinmodelportal.org/query/uniprot/Q9H310 PubMed 11024028 http://www.ncbi.nlm.nih.gov/pubmed/11024028 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15284342 http://www.ncbi.nlm.nih.gov/pubmed/15284342 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15611082 http://www.ncbi.nlm.nih.gov/pubmed/15611082 PubMed 15929723 http://www.ncbi.nlm.nih.gov/pubmed/15929723 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 Reactome R-HSA-444411 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-444411 RefSeq NP_001243324 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001243324 RefSeq NP_001243325 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001243325 RefSeq NP_065140 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_065140 STRING 9606.ENSP00000357229 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000357229&targetmode=cogs SUPFAM SSF111352 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF111352 TCDB 1.A.11.4 http://www.tcdb.org/search/result.php?tc=1.A.11.4 UCSC uc031vbi http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc031vbi&org=rat UniGene Hs.131835 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.131835 UniProtKB RHBG_HUMAN http://www.uniprot.org/uniprot/RHBG_HUMAN UniProtKB-AC Q9H310 http://www.uniprot.org/uniprot/Q9H310 charge swissprot:RHBG_HUMAN http://rest.g-language.org/emboss/charge/swissprot:RHBG_HUMAN eggNOG ENOG410XTF8 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XTF8 eggNOG KOG3796 http://eggnogapi.embl.de/nog_data/html/tree/KOG3796 epestfind swissprot:RHBG_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:RHBG_HUMAN garnier swissprot:RHBG_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:RHBG_HUMAN helixturnhelix swissprot:RHBG_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:RHBG_HUMAN hmoment swissprot:RHBG_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:RHBG_HUMAN iep swissprot:RHBG_HUMAN http://rest.g-language.org/emboss/iep/swissprot:RHBG_HUMAN inforesidue swissprot:RHBG_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:RHBG_HUMAN neXtProt NX_Q9H310 http://www.nextprot.org/db/entry/NX_Q9H310 octanol swissprot:RHBG_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:RHBG_HUMAN pepcoil swissprot:RHBG_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:RHBG_HUMAN pepdigest swissprot:RHBG_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:RHBG_HUMAN pepinfo swissprot:RHBG_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:RHBG_HUMAN pepnet swissprot:RHBG_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:RHBG_HUMAN pepstats swissprot:RHBG_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:RHBG_HUMAN pepwheel swissprot:RHBG_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:RHBG_HUMAN pepwindow swissprot:RHBG_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:RHBG_HUMAN sigcleave swissprot:RHBG_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:RHBG_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS KCNC1_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P48547-1; Sequence=Displayed; Name=2; IsoId=P48547-2; Sequence=VSP_055129; Note=No experimental confirmation available. Gene prediction based on EST data.; # AltName KCNC1_HUMAN NGK2 # AltName KCNC1_HUMAN Voltage-gated potassium channel subunit Kv3.1 # AltName KCNC1_HUMAN Voltage-gated potassium channel subunit Kv4 # BioGrid 109948 8 # CCDS CCDS44547 -. [P48547-2] # CCDS CCDS7827 -. [P48547-1] # DISEASE KCNC1_HUMAN Epilepsy, progressive myoclonic 7 (EPM7) [MIM 616187] A neurologic disorder characterized by progressive myoclonic epilepsy, manifesting in the first or second decades of life. Cognitive function may decline in some patients. Myoclonus is a brief, involuntary twitching of a muscle or a group of muscles. {ECO 0000269|PubMed 25401298}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DOMAIN KCNC1_HUMAN The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position. {ECO 0000305}. # DOMAIN KCNC1_HUMAN The tail may be important in modulation of channel activity and/or targeting of the channel to specific subcellular compartments. {ECO 0000305}. # DrugBank DB06637 Dalfampridine # Ensembl ENST00000265969 ENSP00000265969; ENSG00000129159. [P48547-2] # Ensembl ENST00000379472 ENSP00000368785; ENSG00000129159. [P48547-1] # FUNCTION KCNC1_HUMAN Voltage-gated potassium channel that plays an important role in the rapid repolarization of fast-firing brain neurons. The channel opens in response to the voltage difference across the membrane, forming a potassium-selective channel through which potassium ions pass in accordance with their electrochemical gradient (PubMed 25401298). Can form functional homotetrameric channels and heterotetrameric channels that contain variable proportions of KCNC2, and possibly other family members as well. Contributes to fire sustained trains of very brief action potentials at high frequency in pallidal neurons. {ECO 0000250|UniProtKB P25122, ECO 0000269|PubMed 25401298}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0008076 voltage-gated potassium channel complex; IDA:UniProtKB. # GO_component GO:0009986 cell surface; IEA:Ensembl. # GO_component GO:0030425 dendrite; IEA:Ensembl. # GO_component GO:0032589 neuron projection membrane; IEA:Ensembl. # GO_component GO:0032809 neuronal cell body membrane; ISS:UniProtKB. # GO_function GO:0005249 voltage-gated potassium channel activity; TAS:ProtInc. # GO_function GO:0005251 delayed rectifier potassium channel activity; ISS:UniProtKB. # GO_process GO:0006813 potassium ion transport; TAS:ProtInc. # GO_process GO:0009636 response to toxic substance; IEA:Ensembl. # GO_process GO:0009642 response to light intensity; IEA:Ensembl. # GO_process GO:0010996 response to auditory stimulus; IEA:Ensembl. # GO_process GO:0014075 response to amine; IEA:Ensembl. # GO_process GO:0021549 cerebellum development; IEA:Ensembl. # GO_process GO:0021759 globus pallidus development; IEA:Ensembl. # GO_process GO:0035690 cellular response to drug; IEA:Ensembl. # GO_process GO:0035864 response to potassium ion; IEA:Ensembl. # GO_process GO:0051260 protein homooligomerization; IEA:InterPro. # GO_process GO:0051262 protein tetramerization; IDA:UniProtKB. # GO_process GO:0071774 response to fibroblast growth factor; IEA:Ensembl. # GO_process GO:0071805 potassium ion transmembrane transport; ISS:UniProtKB. # GO_process GO:1901381 positive regulation of potassium ion transmembrane transport; IEA:Ensembl. # GO_process GO:1990089 response to nerve growth factor; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.20.120.350 -; 1. # Genevisible P48547 HS # HGNC HGNC:6233 KCNC1 # InterPro IPR000210 BTB/POZ_dom # InterPro IPR003131 T1-type_BTB # InterPro IPR003968 K_chnl_volt-dep_Kv # InterPro IPR003974 K_chnl_volt-dep_Kv3 # InterPro IPR005403 K_chnl_volt-dep_Kv3.1 # InterPro IPR005821 Ion_trans_dom # InterPro IPR011333 SKP1/BTB/POZ # InterPro IPR027359 Channel_four-helix_dom # InterPro IPR028325 VG_K_chnl # KEGG_Brite ko04040 Ion channels # MIM 176258 gene # MIM 616187 phenotype # Organism KCNC1_HUMAN Homo sapiens (Human) # PANTHER PTHR11537 PTHR11537; 2 # PIR A46020 A46020 # PRINTS PR00169 KCHANNEL # PRINTS PR01491 KVCHANNEL # PRINTS PR01498 SHAWCHANNEL # PRINTS PR01581 KV31CHANNEL # PTM KCNC1_HUMAN N-glycosylated; contains sialylated glycans. {ECO 0000250|UniProtKB P25122}. # Pfam PF00520 Ion_trans # Pfam PF02214 BTB_2 # Proteomes UP000005640 Chromosome 11 # Reactome R-HSA-1296072 Voltage gated Potassium channels # RecName KCNC1_HUMAN Potassium voltage-gated channel subfamily C member 1 # RefSeq NP_001106212 NM_001112741.1. [P48547-2] # RefSeq NP_004967 NM_004976.4. [P48547-1] # SIMILARITY Belongs to the potassium channel family. C (Shaw) (TC 1.A.1.2) subfamily. Kv3.1/KCNC1 sub-subfamily. {ECO 0000305}. # SMART SM00225 BTB # SUBCELLULAR LOCATION KCNC1_HUMAN Cell membrane {ECO 0000269|PubMed 25401298}; Multi-pass membrane protein {ECO 0000255}. # SUBUNIT KCNC1_HUMAN Heteromultimer with KCNG3, KCNG4 and KCNV2 (By similarity). Heteromultimer with KCNC2 (By similarity). Heterotetramer with KCNC3 (PubMed 23734863). Interacts with the ancillary subunits KCNE1 and KCNE2; the interaction modulates channel activity (By similarity). {ECO 0000250, ECO 0000250|UniProtKB P25122, ECO 0000269|PubMed 23734863}. # SUPFAM SSF54695 SSF54695 # UCSC uc001mnk human. [P48547-1] # eggNOG COG1226 LUCA # eggNOG KOG3713 Eukaryota BLAST swissprot:KCNC1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCNC1_HUMAN BioCyc ZFISH:ENSG00000129159-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000129159-MONOMER COXPRESdb 3746 http://coxpresdb.jp/data/gene/3746.shtml CleanEx HS_KCNC1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNC1 DOI 10.1006/geno.1993.1075 http://dx.doi.org/10.1006/geno.1993.1075 DOI 10.1038/nature04632 http://dx.doi.org/10.1038/nature04632 DOI 10.1038/ng.3144 http://dx.doi.org/10.1038/ng.3144 DOI 10.1042/BJ20130034 http://dx.doi.org/10.1042/BJ20130034 DrugBank DB06637 http://www.drugbank.ca/drugs/DB06637 EMBL AC124056 http://www.ebi.ac.uk/ena/data/view/AC124056 EMBL AC124078 http://www.ebi.ac.uk/ena/data/view/AC124078 EMBL AC124301 http://www.ebi.ac.uk/ena/data/view/AC124301 EMBL CH471064 http://www.ebi.ac.uk/ena/data/view/CH471064 EMBL M96747 http://www.ebi.ac.uk/ena/data/view/M96747 EMBL S56770 http://www.ebi.ac.uk/ena/data/view/S56770 Ensembl ENST00000265969 http://www.ensembl.org/id/ENST00000265969 Ensembl ENST00000379472 http://www.ensembl.org/id/ENST00000379472 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0008076 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008076 GO_component GO:0009986 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009986 GO_component GO:0030425 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030425 GO_component GO:0032589 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032589 GO_component GO:0032809 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032809 GO_function GO:0005249 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005249 GO_function GO:0005251 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005251 GO_process GO:0006813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006813 GO_process GO:0009636 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009636 GO_process GO:0009642 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009642 GO_process GO:0010996 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010996 GO_process GO:0014075 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014075 GO_process GO:0021549 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021549 GO_process GO:0021759 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021759 GO_process GO:0035690 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035690 GO_process GO:0035864 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035864 GO_process GO:0051260 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051260 GO_process GO:0051262 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051262 GO_process GO:0071774 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071774 GO_process GO:0071805 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071805 GO_process GO:1901381 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1901381 GO_process GO:1990089 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1990089 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.20.120.350 http://www.cathdb.info/version/latest/superfamily/1.20.120.350 GeneCards KCNC1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNC1 GeneID 3746 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=3746 GeneTree ENSGT00760000118846 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118846 HGNC HGNC:6233 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6233 HOGENOM HOG000231012 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231012&db=HOGENOM6 HOVERGEN HBG105862 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG105862&db=HOVERGEN HPA HPA047634 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA047634 InParanoid P48547 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P48547 InterPro IPR000210 http://www.ebi.ac.uk/interpro/entry/IPR000210 InterPro IPR003131 http://www.ebi.ac.uk/interpro/entry/IPR003131 InterPro IPR003968 http://www.ebi.ac.uk/interpro/entry/IPR003968 InterPro IPR003974 http://www.ebi.ac.uk/interpro/entry/IPR003974 InterPro IPR005403 http://www.ebi.ac.uk/interpro/entry/IPR005403 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR011333 http://www.ebi.ac.uk/interpro/entry/IPR011333 InterPro IPR027359 http://www.ebi.ac.uk/interpro/entry/IPR027359 InterPro IPR028325 http://www.ebi.ac.uk/interpro/entry/IPR028325 Jabion 3746 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=3746 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:3746 http://www.genome.jp/dbget-bin/www_bget?hsa:3746 KEGG_Orthology KO:K04887 http://www.genome.jp/dbget-bin/www_bget?KO:K04887 MIM 176258 http://www.ncbi.nlm.nih.gov/omim/176258 MIM 616187 http://www.ncbi.nlm.nih.gov/omim/616187 OMA MGQGDDS http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=MGQGDDS OrthoDB EOG091G0EJL http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0EJL PANTHER PTHR11537 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11537 PRINTS PR00169 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00169 PRINTS PR01491 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01491 PRINTS PR01498 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01498 PRINTS PR01581 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01581 PSORT swissprot:KCNC1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCNC1_HUMAN PSORT-B swissprot:KCNC1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCNC1_HUMAN PSORT2 swissprot:KCNC1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCNC1_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF02214 http://pfam.xfam.org/family/PF02214 PharmGKB PA30026 http://www.pharmgkb.org/do/serve?objId=PA30026&objCls=Gene Phobius swissprot:KCNC1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCNC1_HUMAN PhylomeDB P48547 http://phylomedb.org/?seqid=P48547 ProteinModelPortal P48547 http://www.proteinmodelportal.org/query/uniprot/P48547 PubMed 1400413 http://www.ncbi.nlm.nih.gov/pubmed/1400413 PubMed 16554811 http://www.ncbi.nlm.nih.gov/pubmed/16554811 PubMed 23734863 http://www.ncbi.nlm.nih.gov/pubmed/23734863 PubMed 25401298 http://www.ncbi.nlm.nih.gov/pubmed/25401298 PubMed 8449507 http://www.ncbi.nlm.nih.gov/pubmed/8449507 Reactome R-HSA-1296072 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1296072 RefSeq NP_001106212 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001106212 RefSeq NP_004967 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004967 SMART SM00225 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00225 SMR P48547 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P48547 STRING 9606.ENSP00000265969 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000265969&targetmode=cogs SUPFAM SSF54695 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF54695 UCSC uc001mnk http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001mnk&org=rat UniGene Hs.552896 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.552896 UniProtKB KCNC1_HUMAN http://www.uniprot.org/uniprot/KCNC1_HUMAN UniProtKB-AC P48547 http://www.uniprot.org/uniprot/P48547 charge swissprot:KCNC1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCNC1_HUMAN eggNOG COG1226 http://eggnogapi.embl.de/nog_data/html/tree/COG1226 eggNOG KOG3713 http://eggnogapi.embl.de/nog_data/html/tree/KOG3713 epestfind swissprot:KCNC1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCNC1_HUMAN garnier swissprot:KCNC1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCNC1_HUMAN helixturnhelix swissprot:KCNC1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCNC1_HUMAN hmoment swissprot:KCNC1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCNC1_HUMAN iep swissprot:KCNC1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCNC1_HUMAN inforesidue swissprot:KCNC1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCNC1_HUMAN neXtProt NX_P48547 http://www.nextprot.org/db/entry/NX_P48547 octanol swissprot:KCNC1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCNC1_HUMAN pepcoil swissprot:KCNC1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCNC1_HUMAN pepdigest swissprot:KCNC1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCNC1_HUMAN pepinfo swissprot:KCNC1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCNC1_HUMAN pepnet swissprot:KCNC1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCNC1_HUMAN pepstats swissprot:KCNC1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCNC1_HUMAN pepwheel swissprot:KCNC1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCNC1_HUMAN pepwindow swissprot:KCNC1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCNC1_HUMAN sigcleave swissprot:KCNC1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCNC1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS PIEZ2_HUMAN Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q9H5I5-1; Sequence=Displayed; Name=2; IsoId=Q9H5I5-2; Sequence=VSP_040472; Note=No experimental confirmation available.; Name=3; IsoId=Q9H5I5-3; Sequence=VSP_040471; Note=No experimental confirmation available.; Name=4; IsoId=Q9H5I5-4; Sequence=VSP_040630; Note=No experimental confirmation available.; # AltName PIEZ2_HUMAN Protein FAM38B # CCDS CCDS11850 -. [Q9H5I5-1] # ChiTaRS PIEZO2 human # DISEASE PIEZ2_HUMAN Arthrogryposis, distal, 3 (DA3) [MIM 114300] A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA3 features include short stature and cleft palate. {ECO 0000269|PubMed 24726473}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE PIEZ2_HUMAN Arthrogryposis, distal, 5 (DA5) [MIM 108145] A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA5 features include ocular abnormalities, typically ptosis, ophthalmoplegia and/or strabismus, in addition to contractures of the skeletal muscles. Some patients have pulmonary hypertension as a result of restrictive lung disease. {ECO 0000269|PubMed 23487782}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE PIEZ2_HUMAN Marden-Walker syndrome (MWKS) [MIM 248700] A syndrome characterized by a mask-like face with blepharophimosis, micrognathia, cleft or high-arched palate, low-set ears, congenital joint contractures, kyphoscoliosis, pectus excavatum or carinatum, and arachnodactyly. Additional features include decreased muscular mass, failure to thrive, renal anomalies, hypoplastic corpus callosum, cerebellar vermis hypoplasia, enlarged cisterna magna, and psychomotor retardation. {ECO 0000269|PubMed 24726473}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000302079 ENSP00000303316; ENSG00000154864. [Q9H5I5-2] # Ensembl ENST00000503781 ENSP00000421377; ENSG00000154864. [Q9H5I5-1] # Ensembl ENST00000538948 ENSP00000443129; ENSG00000154864. [Q9H5I5-3] # Ensembl ENST00000580640 ENSP00000463094; ENSG00000154864. [Q9H5I5-4] # ExpressionAtlas Q9H5I5 baseline and differential # FUNCTION PIEZ2_HUMAN Component of a mechanosensitive channel required for rapidly adapting mechanically activated (MA) currents. Required for Merkel-cell mechanotransduction. Plays a major role in light- touch mechanosensation. {ECO 0000250|UniProtKB Q8CD54}. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0008381 mechanically-gated ion channel activity; IEA:InterPro. # GO_process GO:0006812 cation transport; ISS:UniProtKB. # GO_process GO:0009612 response to mechanical stimulus; ISS:UniProtKB. # GO_process GO:0050974 detection of mechanical stimulus involved in sensory perception; ISS:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # Genevisible Q9H5I5 HS # HGNC HGNC:26270 PIEZO2 # InterPro IPR027272 Piezo # InterPro IPR031334 Piezo_RRas-bd_dom # InterPro IPR031805 Piezo_dom # MIM 108145 phenotype # MIM 114300 phenotype # MIM 248700 phenotype # MIM 613629 gene # MISCELLANEOUS PIEZ2_HUMAN Piezo comes from the Greek 'piesi' meaning pressure. # Organism PIEZ2_HUMAN Homo sapiens (Human) # Orphanet 1154 Arthrogryposis with oculomotor limitation and electroretinal anomalies # Orphanet 2461 Marden-Walker syndrome # Orphanet 376 Gordon syndrome # PANTHER PTHR13167 PTHR13167; 3 # Pfam PF12166 Piezo_RRas_bdg # Pfam PF15917 PIEZO # Proteomes UP000005640 Chromosome 18 # RecName PIEZ2_HUMAN Piezo-type mechanosensitive ion channel component 2 # RefSeq NP_071351 NM_022068.3. [Q9H5I5-1] # RefSeq XP_011524026 XM_011525724.2. [Q9H5I5-4] # SEQUENCE CAUTION PIEZ2_HUMAN Sequence=BAB15556.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; Sequence=BAB15556.1; Type=Erroneous termination; Positions=2718; Note=Translated as Arg.; Evidence={ECO 0000305}; Sequence=BAB15641.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; Sequence=BAC03832.1; Type=Miscellaneous discrepancy; Note=Unlikely isoform. Aberrant splice sites.; Evidence={ECO 0000305}; Sequence=BAC05412.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; Sequence=BAC05412.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence at the 3'end. Probable cloning artifact.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the PIEZO (TC 1.A.75) family. {ECO 0000305}. # SUBCELLULAR LOCATION PIEZ2_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # SUBUNIT Homooligomer, most likely homotetramer. Interacts with STOML3. {ECO:0000250|UniProtKB Q8CD54}. # TCDB 1.A.75.1 the mechanical nociceptor, piezo (piezo) family # UCSC uc002koq human. [Q9H5I5-1] # eggNOG ENOG410YVF6 LUCA # eggNOG KOG1893 Eukaryota BLAST swissprot:PIEZ2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:PIEZ2_HUMAN BioCyc ZFISH:ENSG00000154864-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000154864-MONOMER COXPRESdb 63895 http://coxpresdb.jp/data/gene/63895.shtml CleanEx HS_FAM38B http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_FAM38B DOI 10.1016/j.ajhg.2014.03.015 http://dx.doi.org/10.1016/j.ajhg.2014.03.015 DOI 10.1038/nature03983 http://dx.doi.org/10.1038/nature03983 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.1221400110 http://dx.doi.org/10.1073/pnas.1221400110 EMBL AK026797 http://www.ebi.ac.uk/ena/data/view/AK026797 EMBL AK027056 http://www.ebi.ac.uk/ena/data/view/AK027056 EMBL AK092226 http://www.ebi.ac.uk/ena/data/view/AK092226 EMBL AK098782 http://www.ebi.ac.uk/ena/data/view/AK098782 EMBL AK127627 http://www.ebi.ac.uk/ena/data/view/AK127627 EMBL AK302764 http://www.ebi.ac.uk/ena/data/view/AK302764 EMBL AP001180 http://www.ebi.ac.uk/ena/data/view/AP001180 EMBL AP005117 http://www.ebi.ac.uk/ena/data/view/AP005117 EMBL AP005120 http://www.ebi.ac.uk/ena/data/view/AP005120 EMBL AP005404 http://www.ebi.ac.uk/ena/data/view/AP005404 EMBL AP005793 http://www.ebi.ac.uk/ena/data/view/AP005793 EMBL JN790819 http://www.ebi.ac.uk/ena/data/view/JN790819 Ensembl ENST00000302079 http://www.ensembl.org/id/ENST00000302079 Ensembl ENST00000503781 http://www.ensembl.org/id/ENST00000503781 Ensembl ENST00000538948 http://www.ensembl.org/id/ENST00000538948 Ensembl ENST00000580640 http://www.ensembl.org/id/ENST00000580640 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0008381 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008381 GO_process GO:0006812 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006812 GO_process GO:0009612 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009612 GO_process GO:0050974 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050974 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GeneCards PIEZO2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=PIEZO2 GeneID 63895 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=63895 GeneTree ENSGT00390000013029 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000013029 HGNC HGNC:26270 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:26270 HOVERGEN HBG060934 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG060934&db=HOVERGEN HPA HPA015986 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA015986 HPA HPA031974 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA031974 HPA HPA040616 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA040616 InParanoid Q9H5I5 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9H5I5 InterPro IPR027272 http://www.ebi.ac.uk/interpro/entry/IPR027272 InterPro IPR031334 http://www.ebi.ac.uk/interpro/entry/IPR031334 InterPro IPR031805 http://www.ebi.ac.uk/interpro/entry/IPR031805 Jabion 63895 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=63895 KEGG_Gene hsa:63895 http://www.genome.jp/dbget-bin/www_bget?hsa:63895 MIM 108145 http://www.ncbi.nlm.nih.gov/omim/108145 MIM 114300 http://www.ncbi.nlm.nih.gov/omim/114300 MIM 248700 http://www.ncbi.nlm.nih.gov/omim/248700 MIM 613629 http://www.ncbi.nlm.nih.gov/omim/613629 OMA AENKVPI http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=AENKVPI Orphanet 1154 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1154 Orphanet 2461 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=2461 Orphanet 376 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=376 OrthoDB EOG091G0SD8 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0SD8 PANTHER PTHR13167 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR13167 PSORT swissprot:PIEZ2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:PIEZ2_HUMAN PSORT-B swissprot:PIEZ2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:PIEZ2_HUMAN PSORT2 swissprot:PIEZ2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:PIEZ2_HUMAN Pfam PF12166 http://pfam.xfam.org/family/PF12166 Pfam PF15917 http://pfam.xfam.org/family/PF15917 PharmGKB PA134930761 http://www.pharmgkb.org/do/serve?objId=PA134930761&objCls=Gene Phobius swissprot:PIEZ2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:PIEZ2_HUMAN PhylomeDB Q9H5I5 http://phylomedb.org/?seqid=Q9H5I5 ProteinModelPortal Q9H5I5 http://www.proteinmodelportal.org/query/uniprot/Q9H5I5 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 16177791 http://www.ncbi.nlm.nih.gov/pubmed/16177791 PubMed 23487782 http://www.ncbi.nlm.nih.gov/pubmed/23487782 PubMed 24726473 http://www.ncbi.nlm.nih.gov/pubmed/24726473 RefSeq NP_071351 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_071351 RefSeq XP_011524026 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011524026 STRING 9606.ENSP00000463094 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000463094&targetmode=cogs TCDB 1.A.75.1 http://www.tcdb.org/search/result.php?tc=1.A.75.1 UCSC uc002koq http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002koq&org=rat UniGene Hs.436902 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.436902 UniProtKB PIEZ2_HUMAN http://www.uniprot.org/uniprot/PIEZ2_HUMAN UniProtKB-AC Q9H5I5 http://www.uniprot.org/uniprot/Q9H5I5 charge swissprot:PIEZ2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:PIEZ2_HUMAN eggNOG ENOG410YVF6 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410YVF6 eggNOG KOG1893 http://eggnogapi.embl.de/nog_data/html/tree/KOG1893 epestfind swissprot:PIEZ2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:PIEZ2_HUMAN garnier swissprot:PIEZ2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:PIEZ2_HUMAN helixturnhelix swissprot:PIEZ2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:PIEZ2_HUMAN hmoment swissprot:PIEZ2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:PIEZ2_HUMAN iep swissprot:PIEZ2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:PIEZ2_HUMAN inforesidue swissprot:PIEZ2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:PIEZ2_HUMAN neXtProt NX_Q9H5I5 http://www.nextprot.org/db/entry/NX_Q9H5I5 octanol swissprot:PIEZ2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:PIEZ2_HUMAN pepcoil swissprot:PIEZ2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:PIEZ2_HUMAN pepdigest swissprot:PIEZ2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:PIEZ2_HUMAN pepinfo swissprot:PIEZ2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:PIEZ2_HUMAN pepnet swissprot:PIEZ2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:PIEZ2_HUMAN pepstats swissprot:PIEZ2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:PIEZ2_HUMAN pepwheel swissprot:PIEZ2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:PIEZ2_HUMAN pepwindow swissprot:PIEZ2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:PIEZ2_HUMAN sigcleave swissprot:PIEZ2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:PIEZ2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S45A2_HUMAN Event=Alternative splicing; Named isoforms=4; Comment=Additional isoforms seem to exist.; Name=1; Synonyms=AIM-1a; IsoId=Q9UMX9-1; Sequence=Displayed; Name=2; Synonyms=AIM-1b; IsoId=Q9UMX9-2; Sequence=VSP_006297, VSP_006298, VSP_006299; Name=3; Synonyms=AIM-1c; IsoId=Q9UMX9-3; Sequence=VSP_006296; Note=No experimental confirmation available.; Name=4; IsoId=Q9UMX9-4; Sequence=VSP_041220, VSP_041221; # AltName S45A2_HUMAN Melanoma antigen AIM1 # AltName S45A2_HUMAN Solute carrier family 45 member 2 # BioGrid 119335 12 # CCDS CCDS3901 -. [Q9UMX9-1] # CCDS CCDS43308 -. [Q9UMX9-4] # DISEASE S45A2_HUMAN Albinism, oculocutaneous, 4 (OCA4) [MIM 606574] A disorder of pigmentation characterized by reduced biosynthesis of melanin in the skin, hair and eyes. Patients show reduced or lacking pigmentation associated with classic albinism ocular abnormalities, including decreased visual acuity, macular hypoplasia, optic dysplasia, atypical choroidal vessels, and nystagmus. {ECO 0000269|PubMed 11574907, ECO 0000269|PubMed 14722913, ECO 0000269|PubMed 14961451, ECO 0000269|PubMed 15656822, ECO 0000269|PubMed 17768386, ECO 0000269|PubMed 19865097, ECO 0000269|PubMed 23504663, ECO 0000269|PubMed 25703744}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000296589 ENSP00000296589; ENSG00000164175. [Q9UMX9-1] # Ensembl ENST00000382102 ENSP00000371534; ENSG00000164175. [Q9UMX9-4] # ExpressionAtlas Q9UMX9 baseline and differential # FUNCTION S45A2_HUMAN Melanocyte differentiation antigen. May transport substances required for melanin biosynthesis (By similarity). {ECO 0000250}. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0033162 melanosome membrane; IEA:UniProtKB-SubCell. # GO_function S45A2_HUMAN GO 0008506 sucrose proton symporter activity; ISS ParkinsonsUK-UCL. # GO_process GO:0007601 visual perception; IEA:UniProtKB-KW. # GO_process GO:0015770 sucrose transport; ISS:ParkinsonsUK-UCL. # GO_process GO:0042438 melanin biosynthetic process; IEA:UniProtKB-KW. # GO_process GO:0048066 developmental pigmentation; IEA:Ensembl. # GO_process GO:0050896 response to stimulus; IEA:UniProtKB-KW. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0019748 secondary metabolic process # GOslim_process GO:0043473 pigmentation # GOslim_process GO:0050877 neurological system process # Genevisible Q9UMX9 HS # HGNC HGNC:16472 SLC45A2 # InterPro IPR020846 MFS_dom # KEGG_Brite ko02001 Solute carrier family # KEGG_Disease H00168 [Inherited metabolic disease; Skin and connective tissue disease; Eye disease] Oculocutaneous albinism (OCA) # MIM 227240 phenotype # MIM 606202 gene # MIM 606574 phenotype # Organism S45A2_HUMAN Homo sapiens (Human) # Orphanet 79435 Oculocutaneous albinism type 4 # POLYMORPHISM S45A2_HUMAN Genetic variants in SLC45A2 define the skin/hair/eye pigmentation variation locus 5 (SHEP5) [MIM 227240]. Hair, eye and skin pigmentation are among the most visible examples of human phenotypic variation, with a broad normal range that is subject to substantial geographic stratification. In the case of skin, individuals tend to have lighter pigmentation with increasing distance from the equator. By contrast, the majority of variation in human eye and hair color is found among individuals of European ancestry, with most other human populations fixed for brown eyes and black hair. {ECO 0000269|PubMed 18563784, ECO 0000269|PubMed 18683857}. # Proteomes UP000005640 Chromosome 5 # Reactome R-HSA-5662702 Melanin biosynthesis # RecName S45A2_HUMAN Membrane-associated transporter protein # RefSeq NP_001012527 NM_001012509.3 # RefSeq NP_001284346 NM_001297417.2 # RefSeq NP_057264 NM_016180.4 # SEQUENCE CAUTION Sequence=AAH03597.1; Type=Frameshift; Positions=188; Evidence={ECO 0000305}; # SIMILARITY Belongs to the glycoside-pentoside-hexuronide (GPH) cation symporter transporter (TC 2.A.2) family. {ECO 0000305}. # SUBCELLULAR LOCATION S45A2_HUMAN Melanosome membrane {ECO 0000269|PubMed 17081065}; Multi-pass membrane protein {ECO 0000269|PubMed 17081065}. # SUPFAM SSF103473 SSF103473; 2 # TCDB 2.A.2.4:the glycoside-pentoside-hexuronide (gph) cation symporter family # TISSUE SPECIFICITY S45A2_HUMAN Expressed in most melanoma cell lines and melanocytes. # UCSC uc003jid human. [Q9UMX9-1] # WEB RESOURCE S45A2_HUMAN Name=Albinism database (ADB); Note=SLC45A2 mutations; URL="http //albinismdb.med.umn.edu/oca4mut.html"; # WEB RESOURCE S45A2_HUMAN Name=Mutations of the MATP gene; Note=Retina International's Scientific Newsletter; URL="http //www.retina-international.org/files/sci-news/matpmut.htm"; # eggNOG ENOG410XPTR LUCA # eggNOG KOG0637 Eukaryota BLAST swissprot:S45A2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S45A2_HUMAN BioCyc ZFISH:ENSG00000164175-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000164175-MONOMER COXPRESdb 51151 http://coxpresdb.jp/data/gene/51151.shtml CleanEx HS_AIM1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_AIM1 CleanEx HS_SLC45A2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC45A2 DOI 10.1002/humu.10311 http://dx.doi.org/10.1002/humu.10311 DOI 10.1002/humu.20143 http://dx.doi.org/10.1002/humu.20143 DOI 10.1002/humu.20804 http://dx.doi.org/10.1002/humu.20804 DOI 10.1002/humu.20823 http://dx.doi.org/10.1002/humu.20823 DOI 10.1002/humu.22315 http://dx.doi.org/10.1002/humu.22315 DOI 10.1007/s00414-004-0490-z http://dx.doi.org/10.1007/s00414-004-0490-z DOI 10.1021/pr060363j http://dx.doi.org/10.1021/pr060363j DOI 10.1038/jid.2009.339 http://dx.doi.org/10.1038/jid.2009.339 DOI 10.1038/nature02919 http://dx.doi.org/10.1038/nature02919 DOI 10.1086/324340 http://dx.doi.org/10.1086/324340 DOI 10.1086/382195 http://dx.doi.org/10.1086/382195 DOI 10.1086/522235 http://dx.doi.org/10.1086/522235 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/ced.12612 http://dx.doi.org/10.1111/ced.12612 DOI 10.1111/j.1365-2133.2005.06403.x http://dx.doi.org/10.1111/j.1365-2133.2005.06403.x DOI 10.1111/j.1469-1809.2006.00261.x http://dx.doi.org/10.1111/j.1469-1809.2006.00261.x EMBL AC139777 http://www.ebi.ac.uk/ena/data/view/AC139777 EMBL AC139783 http://www.ebi.ac.uk/ena/data/view/AC139783 EMBL AF172849 http://www.ebi.ac.uk/ena/data/view/AF172849 EMBL BC003597 http://www.ebi.ac.uk/ena/data/view/BC003597 EMBL BC064405 http://www.ebi.ac.uk/ena/data/view/BC064405 Ensembl ENST00000296589 http://www.ensembl.org/id/ENST00000296589 Ensembl ENST00000382102 http://www.ensembl.org/id/ENST00000382102 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0033162 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033162 GO_function GO:0008506 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008506 GO_process GO:0007601 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007601 GO_process GO:0015770 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015770 GO_process GO:0042438 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042438 GO_process GO:0048066 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048066 GO_process GO:0050896 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050896 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0019748 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019748 GOslim_process GO:0043473 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043473 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GeneCards SLC45A2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC45A2 GeneID 51151 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=51151 GeneTree ENSGT00390000018882 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000018882 HGNC HGNC:16472 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:16472 HOGENOM HOG000128553 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000128553&db=HOGENOM6 HOVERGEN HBG018570 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG018570&db=HOVERGEN InParanoid Q9UMX9 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9UMX9 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 51151 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=51151 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Disease H00168 http://www.genome.jp/dbget-bin/www_bget?H00168 KEGG_Gene hsa:51151 http://www.genome.jp/dbget-bin/www_bget?hsa:51151 KEGG_Orthology KO:K15378 http://www.genome.jp/dbget-bin/www_bget?KO:K15378 MIM 227240 http://www.ncbi.nlm.nih.gov/omim/227240 MIM 606202 http://www.ncbi.nlm.nih.gov/omim/606202 MIM 606574 http://www.ncbi.nlm.nih.gov/omim/606574 OMA TSFGVMS http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=TSFGVMS Orphanet 79435 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=79435 OrthoDB EOG091G05H5 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G05H5 PSORT swissprot:S45A2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S45A2_HUMAN PSORT-B swissprot:S45A2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S45A2_HUMAN PSORT2 swissprot:S45A2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S45A2_HUMAN PharmGKB PA134897756 http://www.pharmgkb.org/do/serve?objId=PA134897756&objCls=Gene Phobius swissprot:S45A2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S45A2_HUMAN PhylomeDB Q9UMX9 http://phylomedb.org/?seqid=Q9UMX9 ProteinModelPortal Q9UMX9 http://www.proteinmodelportal.org/query/uniprot/Q9UMX9 PubMed 11221837 http://www.ncbi.nlm.nih.gov/pubmed/11221837 PubMed 11574907 http://www.ncbi.nlm.nih.gov/pubmed/11574907 PubMed 14722913 http://www.ncbi.nlm.nih.gov/pubmed/14722913 PubMed 14961451 http://www.ncbi.nlm.nih.gov/pubmed/14961451 PubMed 15372022 http://www.ncbi.nlm.nih.gov/pubmed/15372022 PubMed 15455243 http://www.ncbi.nlm.nih.gov/pubmed/15455243 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15656822 http://www.ncbi.nlm.nih.gov/pubmed/15656822 PubMed 15714523 http://www.ncbi.nlm.nih.gov/pubmed/15714523 PubMed 17044855 http://www.ncbi.nlm.nih.gov/pubmed/17044855 PubMed 17081065 http://www.ncbi.nlm.nih.gov/pubmed/17081065 PubMed 17768386 http://www.ncbi.nlm.nih.gov/pubmed/17768386 PubMed 17999355 http://www.ncbi.nlm.nih.gov/pubmed/17999355 PubMed 18563784 http://www.ncbi.nlm.nih.gov/pubmed/18563784 PubMed 18683857 http://www.ncbi.nlm.nih.gov/pubmed/18683857 PubMed 19865097 http://www.ncbi.nlm.nih.gov/pubmed/19865097 PubMed 23504663 http://www.ncbi.nlm.nih.gov/pubmed/23504663 PubMed 25703744 http://www.ncbi.nlm.nih.gov/pubmed/25703744 Reactome R-HSA-5662702 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5662702 RefSeq NP_001012527 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001012527 RefSeq NP_001284346 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001284346 RefSeq NP_057264 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_057264 STRING 9606.ENSP00000296589 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000296589&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.2.4 http://www.tcdb.org/search/result.php?tc=2.A.2.4 UCSC uc003jid http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003jid&org=rat UniGene Hs.278962 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.278962 UniProtKB S45A2_HUMAN http://www.uniprot.org/uniprot/S45A2_HUMAN UniProtKB-AC Q9UMX9 http://www.uniprot.org/uniprot/Q9UMX9 charge swissprot:S45A2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S45A2_HUMAN eggNOG ENOG410XPTR http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XPTR eggNOG KOG0637 http://eggnogapi.embl.de/nog_data/html/tree/KOG0637 epestfind swissprot:S45A2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S45A2_HUMAN garnier swissprot:S45A2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S45A2_HUMAN helixturnhelix swissprot:S45A2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S45A2_HUMAN hmoment swissprot:S45A2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S45A2_HUMAN iep swissprot:S45A2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S45A2_HUMAN inforesidue swissprot:S45A2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S45A2_HUMAN neXtProt NX_Q9UMX9 http://www.nextprot.org/db/entry/NX_Q9UMX9 octanol swissprot:S45A2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S45A2_HUMAN pepcoil swissprot:S45A2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S45A2_HUMAN pepdigest swissprot:S45A2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S45A2_HUMAN pepinfo swissprot:S45A2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S45A2_HUMAN pepnet swissprot:S45A2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S45A2_HUMAN pepstats swissprot:S45A2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S45A2_HUMAN pepwheel swissprot:S45A2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S45A2_HUMAN pepwindow swissprot:S45A2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S45A2_HUMAN sigcleave swissprot:S45A2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S45A2_HUMAN ## Database ID URL or Descriptions # AltName S22A3_HUMAN Extraneuronal monoamine transporter # AltName S22A3_HUMAN Organic cation transporter 3 # CDD cd06174 MFS # ChiTaRS SLC22A3 human # DrugBank DB00122 Choline # DrugBank DB00182 Amphetamine # DrugBank DB00184 Nicotine # DrugBank DB00331 Metformin # DrugBank DB00368 Norepinephrine # DrugBank DB00396 Progesterone # DrugBank DB00457 Prazosin # DrugBank DB00458 Imipramine # DrugBank DB00501 Cimetidine # DrugBank DB00526 Oxaliplatin # DrugBank DB00536 Guanidine # DrugBank DB00541 Vincristine # DrugBank DB00575 Clonidine # DrugBank DB00624 Testosterone # DrugBank DB00667 Histamine Phosphate # DrugBank DB00709 Lamivudine # DrugBank DB00718 Adefovir Dipivoxil # DrugBank DB00762 Irinotecan # DrugBank DB00783 Estradiol # DrugBank DB00925 Phenoxybenzamine # DrugBank DB00988 Dopamine # DrugBank DB01035 Procainamide # DrugBank DB01042 Melphalan # DrugBank DB01151 Desipramine # DrugBank DB01394 Colchicine # DrugBank DB01577 Methamphetamine # Ensembl ENST00000275300 ENSP00000275300; ENSG00000146477 # FUNCTION S22A3_HUMAN Mediates potential-dependent transport of a variety of organic cations. May play a significant role in the disposition of cationic neurotoxins and neurotransmitters in the brain. {ECO 0000269|PubMed 10196521, ECO 0000269|PubMed 10966924}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0016020 membrane; TAS:ProtInc. # GO_function GO:0005329 dopamine transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015101 organic cation transmembrane transporter activity; IDA:MGI. # GO_function GO:0015651 quaternary ammonium group transmembrane transporter activity; IDA:MGI. # GO_function GO:0019534 toxin transporter activity; IEA:Ensembl. # GO_process GO:0006855 drug transmembrane transport; TAS:Reactome. # GO_process GO:0015695 organic cation transport; IDA:MGI. # GO_process GO:0015697 quaternary ammonium group transport; IDA:MGI. # GO_process GO:0015872 dopamine transport; IBA:GO_Central. # GO_process GO:0032098 regulation of appetite; IEA:Ensembl. # GO_process GO:0051615 histamine uptake; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0055085 transmembrane transport # Genevisible O75751 HS # HGNC HGNC:10967 SLC22A3 # INTERACTION S22A3_HUMAN P00519 ABL1; NbExp=2; IntAct=EBI-1752674, EBI-375543; # IntAct O75751 2 # InterPro IPR004749 Orgcat_transp/SVOP # InterPro IPR005829 Sugar_transporter_CS # InterPro IPR011701 MFS # InterPro IPR020846 MFS_dom # KEGG_Brite ko02000 Transporters # KEGG_Brite ko02001 Solute carrier family # MIM 604842 gene # Organism S22A3_HUMAN Homo sapiens (Human) # PROSITE PS00216 SUGAR_TRANSPORT_1 # PROSITE PS50850 MFS # Pfam PF07690 MFS_1 # Proteomes UP000005640 Chromosome 6 # Reactome R-HSA-2161517 Abacavir transmembrane transport # Reactome R-HSA-549127 Organic cation transport # RecName S22A3_HUMAN Solute carrier family 22 member 3 # RefSeq NP_068812 NM_021977.3 # SIMILARITY Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family. {ECO 0000305}. # SUBCELLULAR LOCATION S22A3_HUMAN Membrane; Multi-pass membrane protein. # SUPFAM SSF103473 SSF103473; 2 # TCDB 2.A.1.19.24 the major facilitator superfamily (mfs) # TIGRFAMs TIGR00898 2A0119 # TISSUE SPECIFICITY S22A3_HUMAN Expressed in placenta, skeletal muscle, prostate, aorta, liver, fetal lung, salivary gland, adrenal gland, kidney and brain cortex. No expression detected in spleen. {ECO 0000269|PubMed 10196521, ECO 0000269|PubMed 10966924, ECO 0000269|PubMed 9933568}. # UCSC uc003qti human # eggNOG ENOG410IRIE Eukaryota # eggNOG ENOG410XSRI LUCA BLAST swissprot:S22A3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S22A3_HUMAN BioCyc ZFISH:ENSG00000146477-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000146477-MONOMER COXPRESdb 6581 http://coxpresdb.jp/data/gene/6581.shtml CleanEx HS_SLC22A3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC22A3 DOI 10.1006/geno.1998.5639 http://dx.doi.org/10.1006/geno.1998.5639 DOI 10.1038/1557 http://dx.doi.org/10.1038/1557 DOI 10.1038/nature02055 http://dx.doi.org/10.1038/nature02055 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.1210303109 http://dx.doi.org/10.1073/pnas.1210303109 DrugBank DB00122 http://www.drugbank.ca/drugs/DB00122 DrugBank DB00182 http://www.drugbank.ca/drugs/DB00182 DrugBank DB00184 http://www.drugbank.ca/drugs/DB00184 DrugBank DB00331 http://www.drugbank.ca/drugs/DB00331 DrugBank DB00368 http://www.drugbank.ca/drugs/DB00368 DrugBank DB00396 http://www.drugbank.ca/drugs/DB00396 DrugBank DB00457 http://www.drugbank.ca/drugs/DB00457 DrugBank DB00458 http://www.drugbank.ca/drugs/DB00458 DrugBank DB00501 http://www.drugbank.ca/drugs/DB00501 DrugBank DB00526 http://www.drugbank.ca/drugs/DB00526 DrugBank DB00536 http://www.drugbank.ca/drugs/DB00536 DrugBank DB00541 http://www.drugbank.ca/drugs/DB00541 DrugBank DB00575 http://www.drugbank.ca/drugs/DB00575 DrugBank DB00624 http://www.drugbank.ca/drugs/DB00624 DrugBank DB00667 http://www.drugbank.ca/drugs/DB00667 DrugBank DB00709 http://www.drugbank.ca/drugs/DB00709 DrugBank DB00718 http://www.drugbank.ca/drugs/DB00718 DrugBank DB00762 http://www.drugbank.ca/drugs/DB00762 DrugBank DB00783 http://www.drugbank.ca/drugs/DB00783 DrugBank DB00925 http://www.drugbank.ca/drugs/DB00925 DrugBank DB00988 http://www.drugbank.ca/drugs/DB00988 DrugBank DB01035 http://www.drugbank.ca/drugs/DB01035 DrugBank DB01042 http://www.drugbank.ca/drugs/DB01042 DrugBank DB01151 http://www.drugbank.ca/drugs/DB01151 DrugBank DB01394 http://www.drugbank.ca/drugs/DB01394 DrugBank DB01577 http://www.drugbank.ca/drugs/DB01577 EMBL AF078749 http://www.ebi.ac.uk/ena/data/view/AF078749 EMBL AJ001417 http://www.ebi.ac.uk/ena/data/view/AJ001417 EMBL AK314590 http://www.ebi.ac.uk/ena/data/view/AK314590 EMBL AL355506 http://www.ebi.ac.uk/ena/data/view/AL355506 EMBL AL355506 http://www.ebi.ac.uk/ena/data/view/AL355506 EMBL AL591069 http://www.ebi.ac.uk/ena/data/view/AL591069 EMBL AL591069 http://www.ebi.ac.uk/ena/data/view/AL591069 EMBL CH471051 http://www.ebi.ac.uk/ena/data/view/CH471051 Ensembl ENST00000275300 http://www.ensembl.org/id/ENST00000275300 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_function GO:0005329 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005329 GO_function GO:0015101 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015101 GO_function GO:0015651 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015651 GO_function GO:0019534 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019534 GO_process GO:0006855 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006855 GO_process GO:0015695 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015695 GO_process GO:0015697 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015697 GO_process GO:0015872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015872 GO_process GO:0032098 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032098 GO_process GO:0051615 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051615 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC22A3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC22A3 GeneID 6581 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6581 GeneTree ENSGT00760000118852 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118852 HGNC HGNC:10967 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10967 HOGENOM HOG000234568 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000234568&db=HOGENOM6 HOVERGEN HBG061545 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG061545&db=HOVERGEN HPA HPA029750 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA029750 InParanoid O75751 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O75751 IntAct O75751 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O75751* InterPro IPR004749 http://www.ebi.ac.uk/interpro/entry/IPR004749 InterPro IPR005829 http://www.ebi.ac.uk/interpro/entry/IPR005829 InterPro IPR011701 http://www.ebi.ac.uk/interpro/entry/IPR011701 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 6581 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6581 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:6581 http://www.genome.jp/dbget-bin/www_bget?hsa:6581 KEGG_Orthology KO:K08200 http://www.genome.jp/dbget-bin/www_bget?KO:K08200 MIM 604842 http://www.ncbi.nlm.nih.gov/omim/604842 OMA CQRYLLE http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=CQRYLLE OrthoDB EOG091G05AC http://cegg.unige.ch/orthodb/results?searchtext=EOG091G05AC PROSITE PS00216 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00216 PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PSORT swissprot:S22A3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S22A3_HUMAN PSORT-B swissprot:S22A3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S22A3_HUMAN PSORT2 swissprot:S22A3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S22A3_HUMAN Pfam PF07690 http://pfam.xfam.org/family/PF07690 PharmGKB PA330 http://www.pharmgkb.org/do/serve?objId=PA330&objCls=Gene Phobius swissprot:S22A3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S22A3_HUMAN PhylomeDB O75751 http://phylomedb.org/?seqid=O75751 ProteinModelPortal O75751 http://www.proteinmodelportal.org/query/uniprot/O75751 PubMed 10196521 http://www.ncbi.nlm.nih.gov/pubmed/10196521 PubMed 10966924 http://www.ncbi.nlm.nih.gov/pubmed/10966924 PubMed 14574404 http://www.ncbi.nlm.nih.gov/pubmed/14574404 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 22814378 http://www.ncbi.nlm.nih.gov/pubmed/22814378 PubMed 9933568 http://www.ncbi.nlm.nih.gov/pubmed/9933568 Reactome R-HSA-2161517 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2161517 Reactome R-HSA-549127 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-549127 RefSeq NP_068812 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_068812 STRING 9606.ENSP00000275300 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000275300&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.1.19.24 http://www.tcdb.org/search/result.php?tc=2.A.1.19.24 TIGRFAMs TIGR00898 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00898 UCSC uc003qti http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003qti&org=rat UniGene Hs.567337 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.567337 UniProtKB S22A3_HUMAN http://www.uniprot.org/uniprot/S22A3_HUMAN UniProtKB-AC O75751 http://www.uniprot.org/uniprot/O75751 charge swissprot:S22A3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S22A3_HUMAN eggNOG ENOG410IRIE http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IRIE eggNOG ENOG410XSRI http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XSRI epestfind swissprot:S22A3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S22A3_HUMAN garnier swissprot:S22A3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S22A3_HUMAN helixturnhelix swissprot:S22A3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S22A3_HUMAN hmoment swissprot:S22A3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S22A3_HUMAN iep swissprot:S22A3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S22A3_HUMAN inforesidue swissprot:S22A3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S22A3_HUMAN neXtProt NX_O75751 http://www.nextprot.org/db/entry/NX_O75751 octanol swissprot:S22A3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S22A3_HUMAN pepcoil swissprot:S22A3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S22A3_HUMAN pepdigest swissprot:S22A3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S22A3_HUMAN pepinfo swissprot:S22A3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S22A3_HUMAN pepnet swissprot:S22A3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S22A3_HUMAN pepstats swissprot:S22A3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S22A3_HUMAN pepwheel swissprot:S22A3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S22A3_HUMAN pepwindow swissprot:S22A3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S22A3_HUMAN sigcleave swissprot:S22A3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S22A3_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS SL9A8_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9Y2E8-1; Sequence=Displayed; Name=2; IsoId=Q9Y2E8-2; Sequence=VSP_037686; # AltName SL9A8_HUMAN Na(+)/H(+) exchanger 8 # AltName SL9A8_HUMAN Solute carrier family 9 member 8 # BioGrid 116906 2 # CCDS CCDS13421 -. [Q9Y2E8-1] # CCDS CCDS58774 -. [Q9Y2E8-2] # ChiTaRS SLC9A8 human # Ensembl ENST00000361573 ENSP00000354966; ENSG00000197818. [Q9Y2E8-1] # Ensembl ENST00000417961 ENSP00000416418; ENSG00000197818. [Q9Y2E8-2] # FUNCTION SL9A8_HUMAN Involved in pH regulation to eliminate acids generated by active metabolism or to counter adverse environmental conditions. Major proton extruding system driven by the inward sodium ion chemical gradient. Plays an important role in signal transduction. {ECO 0000269|PubMed 15522866}. # GO_component GO:0000139 Golgi membrane; TAS:Reactome. # GO_component GO:0005794 Golgi apparatus; IBA:GO_Central. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function SL9A8_HUMAN GO 0015385 sodium proton antiporter activity; IBA GO_Central. # GO_function SL9A8_HUMAN GO 0015386 potassium proton antiporter activity; IBA GO_Central. # GO_process GO:0006811 ion transport; TAS:Reactome. # GO_process GO:0051453 regulation of intracellular pH; IBA:GO_Central. # GO_process GO:0071805 potassium ion transmembrane transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005794 Golgi apparatus # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Genevisible Q9Y2E8 HS # HGNC HGNC:20728 SLC9A8 # IntAct Q9Y2E8 2 # InterPro IPR004709 NaH_exchanger # InterPro IPR006153 Cation/H_exchanger # InterPro IPR018409 Na/H_exchanger_8 # InterPro IPR018422 Cation/H_exchanger_CPA1 # KEGG_Brite ko02001 Solute carrier family # MIM 612730 gene # Organism SL9A8_HUMAN Homo sapiens (Human) # PANTHER PTHR10110 PTHR10110 # PANTHER PTHR10110:SF122 PTHR10110:SF122 # PRINTS PR01084 NAHEXCHNGR # Pfam PF00999 Na_H_Exchanger # Proteomes UP000005640 Chromosome 20 # Reactome R-HSA-425986 Sodium/Proton exchangers # RecName SL9A8_HUMAN Sodium/hydrogen exchanger 8 # RefSeq NP_001247420 NM_001260491.1. [Q9Y2E8-2] # RefSeq NP_056081 NM_015266.2. [Q9Y2E8-1] # SEQUENCE CAUTION Sequence=BAA76783.2; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family. {ECO 0000305}. # SUBCELLULAR LOCATION SL9A8_HUMAN Golgi apparatus membrane {ECO 0000269|PubMed 15522866}; Multi-pass membrane protein {ECO 0000269|PubMed 15522866}. # TCDB 2.A.36.1:the monovalent cation proton antiporter-1 (cpa1) family # TIGRFAMs TIGR00840 b_cpa1 # TISSUE SPECIFICITY Ubiquitous. Strongly expressed in skeletal muscle and kidney. {ECO:0000269|PubMed 15522866}. # UCSC uc002xuv human. [Q9Y2E8-1] # eggNOG COG0025 LUCA # eggNOG KOG1965 Eukaryota BLAST swissprot:SL9A8_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SL9A8_HUMAN BioCyc ZFISH:G66-31487-MONOMER http://biocyc.org/getid?id=ZFISH:G66-31487-MONOMER COXPRESdb 23315 http://coxpresdb.jp/data/gene/23315.shtml CleanEx HS_SLC9A8 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC9A8 DOI 10.1038/414865a http://dx.doi.org/10.1038/414865a DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.M410041200 http://dx.doi.org/10.1074/jbc.M410041200 DOI 10.1093/dnares/6.1.63 http://dx.doi.org/10.1093/dnares/6.1.63 DOI 10.1093/dnares/9.3.99 http://dx.doi.org/10.1093/dnares/9.3.99 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 EMBL AB023156 http://www.ebi.ac.uk/ena/data/view/AB023156 EMBL AK131001 http://www.ebi.ac.uk/ena/data/view/AK131001 EMBL AK300318 http://www.ebi.ac.uk/ena/data/view/AK300318 EMBL AL031685 http://www.ebi.ac.uk/ena/data/view/AL031685 EMBL AL031685 http://www.ebi.ac.uk/ena/data/view/AL031685 EMBL AL162615 http://www.ebi.ac.uk/ena/data/view/AL162615 EMBL AL162615 http://www.ebi.ac.uk/ena/data/view/AL162615 EMBL BC112213 http://www.ebi.ac.uk/ena/data/view/BC112213 EMBL CH471077 http://www.ebi.ac.uk/ena/data/view/CH471077 EMBL CR749638 http://www.ebi.ac.uk/ena/data/view/CR749638 Ensembl ENST00000361573 http://www.ensembl.org/id/ENST00000361573 Ensembl ENST00000417961 http://www.ensembl.org/id/ENST00000417961 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000139 GO_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0015385 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015385 GO_function GO:0015386 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015386 GO_process GO:0006811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006811 GO_process GO:0051453 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051453 GO_process GO:0071805 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071805 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC9A8 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC9A8 GeneID 23315 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=23315 GeneTree ENSGT00760000119074 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119074 HGNC HGNC:20728 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:20728 HOGENOM HOG000172307 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000172307&db=HOGENOM6 HOVERGEN HBG056815 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG056815&db=HOVERGEN HPA CAB033682 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB033682 InParanoid Q9Y2E8 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9Y2E8 IntAct Q9Y2E8 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9Y2E8* InterPro IPR004709 http://www.ebi.ac.uk/interpro/entry/IPR004709 InterPro IPR006153 http://www.ebi.ac.uk/interpro/entry/IPR006153 InterPro IPR018409 http://www.ebi.ac.uk/interpro/entry/IPR018409 InterPro IPR018422 http://www.ebi.ac.uk/interpro/entry/IPR018422 Jabion 23315 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=23315 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:23315 http://www.genome.jp/dbget-bin/www_bget?hsa:23315 KEGG_Orthology KO:K14724 http://www.genome.jp/dbget-bin/www_bget?KO:K14724 MIM 612730 http://www.ncbi.nlm.nih.gov/omim/612730 OMA DVIYKMT http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=DVIYKMT OrthoDB EOG091G05T4 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G05T4 PANTHER PTHR10110 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10110 PANTHER PTHR10110:SF122 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10110:SF122 PRINTS PR01084 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01084 PSORT swissprot:SL9A8_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SL9A8_HUMAN PSORT-B swissprot:SL9A8_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SL9A8_HUMAN PSORT2 swissprot:SL9A8_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SL9A8_HUMAN Pfam PF00999 http://pfam.xfam.org/family/PF00999 PharmGKB PA134924114 http://www.pharmgkb.org/do/serve?objId=PA134924114&objCls=Gene Phobius swissprot:SL9A8_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SL9A8_HUMAN PhylomeDB Q9Y2E8 http://phylomedb.org/?seqid=Q9Y2E8 ProteinModelPortal Q9Y2E8 http://www.proteinmodelportal.org/query/uniprot/Q9Y2E8 PubMed 10231032 http://www.ncbi.nlm.nih.gov/pubmed/10231032 PubMed 11780052 http://www.ncbi.nlm.nih.gov/pubmed/11780052 PubMed 12168954 http://www.ncbi.nlm.nih.gov/pubmed/12168954 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15522866 http://www.ncbi.nlm.nih.gov/pubmed/15522866 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 Reactome R-HSA-425986 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-425986 RefSeq NP_001247420 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001247420 RefSeq NP_056081 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_056081 SMR Q9Y2E8 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9Y2E8 STRING 9606.ENSP00000354966 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000354966&targetmode=cogs TCDB 2.A.36.1 http://www.tcdb.org/search/result.php?tc=2.A.36.1 TIGRFAMs TIGR00840 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00840 UCSC uc002xuv http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002xuv&org=rat UniGene Hs.444202 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.444202 UniProtKB SL9A8_HUMAN http://www.uniprot.org/uniprot/SL9A8_HUMAN UniProtKB-AC Q9Y2E8 http://www.uniprot.org/uniprot/Q9Y2E8 charge swissprot:SL9A8_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SL9A8_HUMAN eggNOG COG0025 http://eggnogapi.embl.de/nog_data/html/tree/COG0025 eggNOG KOG1965 http://eggnogapi.embl.de/nog_data/html/tree/KOG1965 epestfind swissprot:SL9A8_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SL9A8_HUMAN garnier swissprot:SL9A8_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SL9A8_HUMAN helixturnhelix swissprot:SL9A8_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SL9A8_HUMAN hmoment swissprot:SL9A8_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SL9A8_HUMAN iep swissprot:SL9A8_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SL9A8_HUMAN inforesidue swissprot:SL9A8_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SL9A8_HUMAN neXtProt NX_Q9Y2E8 http://www.nextprot.org/db/entry/NX_Q9Y2E8 octanol swissprot:SL9A8_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SL9A8_HUMAN pepcoil swissprot:SL9A8_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SL9A8_HUMAN pepdigest swissprot:SL9A8_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SL9A8_HUMAN pepinfo swissprot:SL9A8_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SL9A8_HUMAN pepnet swissprot:SL9A8_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SL9A8_HUMAN pepstats swissprot:SL9A8_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SL9A8_HUMAN pepwheel swissprot:SL9A8_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SL9A8_HUMAN pepwindow swissprot:SL9A8_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SL9A8_HUMAN sigcleave swissprot:SL9A8_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SL9A8_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS TM175_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9BSA9-1; Sequence=Displayed; Name=2; IsoId=Q9BSA9-2; Sequence=VSP_024213; # AltName Transmembrane protein 175 {ECO:0000312|HGNC HGNC:28709} # CCDS CCDS3341 -. [Q9BSA9-1] # CCDS CCDS75088 -. [Q9BSA9-2] # ChiTaRS TMEM175 human # DOMAIN TM175_HUMAN Probably forms a two-repeat structure, with each repeat containing 6 transmembrane regions. The first transmembrane region of each repeat (named IS1 and IIS1, repectively), which contain the invariant FSD motif probably form the ion filter. Negatively charged residues (Asp/Glu) within the helices may interact with potassium ions to achieve the potassium selectivity. {ECO 0000305|PubMed 26317472}. # Ensembl ENST00000264771 ENSP00000264771; ENSG00000127419. [Q9BSA9-1] # Ensembl ENST00000515740 ENSP00000427039; ENSG00000127419. [Q9BSA9-2] # Ensembl ENST00000622959 ENSP00000485461; ENSG00000127419. [Q9BSA9-2] # ExpressionAtlas Q9BSA9 baseline and differential # FUNCTION TM175_HUMAN Organelle-specific potassium channel specifically responsible for potassium conductance in endosomes and lysosomes. Forms a potassium-permeable leak-like channel, which regulates lumenal pH stability and is required for autophagosome-lysosome fusion. Constitutes the major lysosomal potassium channel. {ECO 0000269|PubMed 26317472}. # GO_component GO:0005764 lysosome; IDA:UniProtKB. # GO_component GO:0005765 lysosomal membrane; IDA:UniProtKB. # GO_component GO:0005768 endosome; IDA:UniProtKB. # GO_component GO:0010008 endosome membrane; IEA:UniProtKB-SubCell. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0022841 potassium ion leak channel activity; IDA:UniProtKB. # GO_process GO:0035751 regulation of lysosomal lumen pH; IEA:Ensembl. # GO_process GO:0071805 potassium ion transmembrane transport; IDA:UniProtKB. # GO_process GO:0090385 phagosome-lysosome fusion; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005764 lysosome # GOslim_component GO:0005768 endosome # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # GOslim_process GO:0061024 membrane organization # Genevisible Q9BSA9 HS # HGNC HGNC:28709 TMEM175 # IntAct Q9BSA9 4 # InterPro IPR010617 TMEM175 # MIM 616660 gene # Organism TM175_HUMAN Homo sapiens (Human) # Pfam PF06736 DUF1211; 2 # Proteomes UP000005640 Chromosome 4 # RecName Endosomal/lysomomal potassium channel TMEM175 {ECO 0000305} # RefSeq NP_001284355 NM_001297426.1. [Q9BSA9-2] # RefSeq NP_001284356 NM_001297427.1. [Q9BSA9-2] # RefSeq NP_001284357 NM_001297428.1. [Q9BSA9-2] # RefSeq NP_115702 NM_032326.3. [Q9BSA9-1] # RefSeq XP_005272361 XM_005272304.1. [Q9BSA9-2] # RefSeq XP_016864190 XM_017008701.1. [Q9BSA9-1] # RefSeq XP_016864194 XM_017008705.1. [Q9BSA9-2] # SIMILARITY Belongs to the TMEM175 family. {ECO 0000305}. # SUBCELLULAR LOCATION TM175_HUMAN Endosome membrane {ECO 0000269|PubMed 26317472}; Multi-pass membrane protein {ECO 0000255}. Lysosome membrane {ECO 0000269|PubMed 26317472}; Multi-pass membrane protein {ECO 0000255}. # TCDB 1.A.78.1 the k+-selective channel in endosomes and lysosomes (kel) family # TISSUE SPECIFICITY Widely expressed. {ECO:0000269|PubMed 26317472}. # UCSC uc003gbq human. [Q9BSA9-1] # eggNOG ENOG410IIWE Eukaryota # eggNOG ENOG410ZP3B LUCA BLAST swissprot:TM175_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:TM175_HUMAN BioCyc ZFISH:ENSG00000127419-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000127419-MONOMER COXPRESdb 84286 http://coxpresdb.jp/data/gene/84286.shtml CleanEx HS_TMEM175 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_TMEM175 DOI 10.1016/j.cell.2015.08.002 http://dx.doi.org/10.1016/j.cell.2015.08.002 DOI 10.1016/j.molcel.2008.07.007 http://dx.doi.org/10.1016/j.molcel.2008.07.007 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 EMBL AL834199 http://www.ebi.ac.uk/ena/data/view/AL834199 EMBL BC005158 http://www.ebi.ac.uk/ena/data/view/BC005158 EMBL CH471131 http://www.ebi.ac.uk/ena/data/view/CH471131 EMBL CH471131 http://www.ebi.ac.uk/ena/data/view/CH471131 Ensembl ENST00000264771 http://www.ensembl.org/id/ENST00000264771 Ensembl ENST00000515740 http://www.ensembl.org/id/ENST00000515740 Ensembl ENST00000622959 http://www.ensembl.org/id/ENST00000622959 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005764 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005764 GO_component GO:0005765 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005765 GO_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GO_component GO:0010008 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010008 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0022841 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022841 GO_process GO:0035751 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035751 GO_process GO:0071805 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071805 GO_process GO:0090385 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090385 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005764 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005764 GOslim_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GOslim_process GO:0061024 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061024 GeneCards TMEM175 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=TMEM175 GeneID 84286 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=84286 GeneTree ENSGT00390000015667 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000015667 H-InvDB HIX0004008 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0004008 HGNC HGNC:28709 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:28709 HOGENOM HOG000154616 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000154616&db=HOGENOM6 HOVERGEN HBG059914 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG059914&db=HOVERGEN HPA HPA057160 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA057160 InParanoid Q9BSA9 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9BSA9 IntAct Q9BSA9 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9BSA9* InterPro IPR010617 http://www.ebi.ac.uk/interpro/entry/IPR010617 Jabion 84286 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=84286 KEGG_Gene hsa:84286 http://www.genome.jp/dbget-bin/www_bget?hsa:84286 MIM 616660 http://www.ncbi.nlm.nih.gov/omim/616660 OMA ACMMLIT http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=ACMMLIT OrthoDB EOG091G05QO http://cegg.unige.ch/orthodb/results?searchtext=EOG091G05QO PSORT swissprot:TM175_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:TM175_HUMAN PSORT-B swissprot:TM175_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:TM175_HUMAN PSORT2 swissprot:TM175_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:TM175_HUMAN Pfam PF06736 http://pfam.xfam.org/family/PF06736 PharmGKB PA162405946 http://www.pharmgkb.org/do/serve?objId=PA162405946&objCls=Gene Phobius swissprot:TM175_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:TM175_HUMAN PhylomeDB Q9BSA9 http://phylomedb.org/?seqid=Q9BSA9 ProteinModelPortal Q9BSA9 http://www.proteinmodelportal.org/query/uniprot/Q9BSA9 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 PubMed 18691976 http://www.ncbi.nlm.nih.gov/pubmed/18691976 PubMed 26317472 http://www.ncbi.nlm.nih.gov/pubmed/26317472 RefSeq NP_001284355 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001284355 RefSeq NP_001284356 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001284356 RefSeq NP_001284357 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001284357 RefSeq NP_115702 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_115702 RefSeq XP_005272361 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005272361 RefSeq XP_016864190 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016864190 RefSeq XP_016864194 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016864194 STRING 9606.ENSP00000264771 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000264771&targetmode=cogs TCDB 1.A.78.1 http://www.tcdb.org/search/result.php?tc=1.A.78.1 UCSC uc003gbq http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003gbq&org=rat UniGene Hs.478936 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.478936 UniProtKB TM175_HUMAN http://www.uniprot.org/uniprot/TM175_HUMAN UniProtKB-AC Q9BSA9 http://www.uniprot.org/uniprot/Q9BSA9 charge swissprot:TM175_HUMAN http://rest.g-language.org/emboss/charge/swissprot:TM175_HUMAN eggNOG ENOG410IIWE http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IIWE eggNOG ENOG410ZP3B http://eggnogapi.embl.de/nog_data/html/tree/ENOG410ZP3B epestfind swissprot:TM175_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:TM175_HUMAN garnier swissprot:TM175_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:TM175_HUMAN helixturnhelix swissprot:TM175_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:TM175_HUMAN hmoment swissprot:TM175_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:TM175_HUMAN iep swissprot:TM175_HUMAN http://rest.g-language.org/emboss/iep/swissprot:TM175_HUMAN inforesidue swissprot:TM175_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:TM175_HUMAN neXtProt NX_Q9BSA9 http://www.nextprot.org/db/entry/NX_Q9BSA9 octanol swissprot:TM175_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:TM175_HUMAN pepcoil swissprot:TM175_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:TM175_HUMAN pepdigest swissprot:TM175_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:TM175_HUMAN pepinfo swissprot:TM175_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:TM175_HUMAN pepnet swissprot:TM175_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:TM175_HUMAN pepstats swissprot:TM175_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:TM175_HUMAN pepwheel swissprot:TM175_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:TM175_HUMAN pepwindow swissprot:TM175_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:TM175_HUMAN sigcleave swissprot:TM175_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:TM175_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS CLCN4_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P51793-1; Sequence=Displayed; Name=2; IsoId=P51793-2; Sequence=VSP_054658; Note=No experimental confirmation available.; # AltName CLCN4_HUMAN Chloride channel protein 4 # AltName CLCN4_HUMAN Chloride transporter ClC-4 # CCDS CCDS14137 -. [P51793-1] # CCDS CCDS59159 -. [P51793-2] # ChiTaRS CLCN4 human # Ensembl ENST00000380833 ENSP00000370213; ENSG00000073464. [P51793-1] # Ensembl ENST00000421085 ENSP00000405754; ENSG00000073464. [P51793-2] # ExpressionAtlas P51793 baseline and differential # FUNCTION CLCN4_HUMAN Proton-coupled chloride transporter. Functions as antiport system and exchanges chloride ions against protons. {ECO 0000269|PubMed 18063579}. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0010008 endosome membrane; TAS:Reactome. # GO_component GO:0031901 early endosome membrane; IEA:UniProtKB-SubCell. # GO_component GO:0031902 late endosome membrane; IEA:UniProtKB-SubCell. # GO_function GO:0005247 voltage-gated chloride channel activity; TAS:ProtInc. # GO_function GO:0005254 chloride channel activity; IDA:MGI. # GO_function GO:0005524 ATP binding; IEA:UniProtKB-KW. # GO_function GO:0015297 antiporter activity; TAS:Reactome. # GO_function GO:0031404 chloride ion binding; IBA:GO_Central. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0006821 chloride transport; IDA:MGI. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.10.3080.10 -; 3. # Genevisible P51793 HS # HGNC HGNC:2022 CLCN4 # InterPro IPR000644 CBS_dom # InterPro IPR001807 Cl-channel_volt-gated # InterPro IPR002246 Cl_channel-4 # InterPro IPR014743 Cl-channel_core # KEGG_Brite ko04040 Ion channels # MIM 302910 gene # MISCELLANEOUS CLCN4_HUMAN The CLC channel family contains both chloride channels and proton-coupled anion transporters that exchange chloride or another anion for protons. The presence of conserved gating glutamate residues is typical for family members that function as antiporters. # Organism CLCN4_HUMAN Homo sapiens (Human) # PIR I37242 I37242 # PRINTS PR00762 CLCHANNEL # PRINTS PR01115 CLCHANNEL4 # PROSITE PS51371 CBS; 2 # Pfam PF00571 CBS; 2 # Pfam PF00654 Voltage_CLC # Proteomes UP000005640 Chromosome X # Reactome R-HSA-2672351 Stimuli-sensing channels # RecName CLCN4_HUMAN H(+)/Cl(-) exchange transporter 4 # RefSeq NP_001243873 NM_001256944.1. [P51793-2] # RefSeq NP_001821 NM_001830.3. [P51793-1] # SIMILARITY Belongs to the chloride channel (TC 2.A.49) family. ClC-4/CLCN4 subfamily. {ECO 0000305}. # SIMILARITY Contains 2 CBS domains. {ECO:0000255|PROSITE- ProRule PRU00703}. # SMART SM00116 CBS; 2 # SUBCELLULAR LOCATION CLCN4_HUMAN Early endosome membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. Late endosome membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. # SUPFAM SSF81340 SSF81340; 3 # TCDB 2.A.49.2 the chloride carrier/channel (clc) family # TISSUE SPECIFICITY CLCN4_HUMAN Abundant in skeletal muscle and also detectable in brain and heart. # UCSC uc004csy human. [P51793-1] # eggNOG COG0038 LUCA # eggNOG KOG0475 Eukaryota BLAST swissprot:CLCN4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CLCN4_HUMAN BioCyc ZFISH:ENSG00000073464-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000073464-MONOMER COXPRESdb 1183 http://coxpresdb.jp/data/gene/1183.shtml CleanEx HS_CLCN4 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CLCN4 DOI 10.1038/nature03440 http://dx.doi.org/10.1038/nature03440 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.M708368200 http://dx.doi.org/10.1074/jbc.M708368200 DOI 10.1093/hmg/3.4.547 http://dx.doi.org/10.1093/hmg/3.4.547 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AB019432 http://www.ebi.ac.uk/ena/data/view/AB019432 EMBL AC003666 http://www.ebi.ac.uk/ena/data/view/AC003666 EMBL AC121345 http://www.ebi.ac.uk/ena/data/view/AC121345 EMBL AF170492 http://www.ebi.ac.uk/ena/data/view/AF170492 EMBL AK289564 http://www.ebi.ac.uk/ena/data/view/AK289564 EMBL AK299611 http://www.ebi.ac.uk/ena/data/view/AK299611 EMBL BC130278 http://www.ebi.ac.uk/ena/data/view/BC130278 EMBL CH471074 http://www.ebi.ac.uk/ena/data/view/CH471074 EMBL X77197 http://www.ebi.ac.uk/ena/data/view/X77197 Ensembl ENST00000380833 http://www.ensembl.org/id/ENST00000380833 Ensembl ENST00000421085 http://www.ensembl.org/id/ENST00000421085 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0010008 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010008 GO_component GO:0031901 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031901 GO_component GO:0031902 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031902 GO_function GO:0005247 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005247 GO_function GO:0005254 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005254 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0015297 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015297 GO_function GO:0031404 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031404 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0006821 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006821 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.10.3080.10 http://www.cathdb.info/version/latest/superfamily/1.10.3080.10 GeneCards CLCN4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CLCN4 GeneID 1183 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=1183 GeneTree ENSGT00760000119109 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119109 H-InvDB HIX0056096 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0056096 HGNC HGNC:2022 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:2022 HOGENOM HOG000164493 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000164493&db=HOGENOM6 HOVERGEN HBG050984 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050984&db=HOVERGEN HPA HPA031313 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA031313 HPA HPA063637 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA063637 InParanoid P51793 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P51793 InterPro IPR000644 http://www.ebi.ac.uk/interpro/entry/IPR000644 InterPro IPR001807 http://www.ebi.ac.uk/interpro/entry/IPR001807 InterPro IPR002246 http://www.ebi.ac.uk/interpro/entry/IPR002246 InterPro IPR014743 http://www.ebi.ac.uk/interpro/entry/IPR014743 Jabion 1183 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=1183 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:1183 http://www.genome.jp/dbget-bin/www_bget?hsa:1183 KEGG_Orthology KO:K05013 http://www.genome.jp/dbget-bin/www_bget?KO:K05013 MIM 302910 http://www.ncbi.nlm.nih.gov/omim/302910 MINT MINT-3019161 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-3019161 OMA HRKITNK http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=HRKITNK OrthoDB EOG091G01YH http://cegg.unige.ch/orthodb/results?searchtext=EOG091G01YH PRINTS PR00762 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00762 PRINTS PR01115 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01115 PROSITE PS51371 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51371 PSORT swissprot:CLCN4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CLCN4_HUMAN PSORT-B swissprot:CLCN4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CLCN4_HUMAN PSORT2 swissprot:CLCN4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CLCN4_HUMAN Pfam PF00571 http://pfam.xfam.org/family/PF00571 Pfam PF00654 http://pfam.xfam.org/family/PF00654 PharmGKB PA26549 http://www.pharmgkb.org/do/serve?objId=PA26549&objCls=Gene Phobius swissprot:CLCN4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CLCN4_HUMAN PhylomeDB P51793 http://phylomedb.org/?seqid=P51793 ProteinModelPortal P51793 http://www.proteinmodelportal.org/query/uniprot/P51793 PubMed 10564087 http://www.ncbi.nlm.nih.gov/pubmed/10564087 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15772651 http://www.ncbi.nlm.nih.gov/pubmed/15772651 PubMed 18063579 http://www.ncbi.nlm.nih.gov/pubmed/18063579 PubMed 8069296 http://www.ncbi.nlm.nih.gov/pubmed/8069296 Reactome R-HSA-2672351 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2672351 RefSeq NP_001243873 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001243873 RefSeq NP_001821 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001821 SMART SM00116 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00116 SMR P51793 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P51793 STRING 9606.ENSP00000370213 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000370213&targetmode=cogs SUPFAM SSF81340 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81340 TCDB 2.A.49.2 http://www.tcdb.org/search/result.php?tc=2.A.49.2 UCSC uc004csy http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc004csy&org=rat UniGene Hs.495674 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.495674 UniProtKB CLCN4_HUMAN http://www.uniprot.org/uniprot/CLCN4_HUMAN UniProtKB-AC P51793 http://www.uniprot.org/uniprot/P51793 charge swissprot:CLCN4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CLCN4_HUMAN eggNOG COG0038 http://eggnogapi.embl.de/nog_data/html/tree/COG0038 eggNOG KOG0475 http://eggnogapi.embl.de/nog_data/html/tree/KOG0475 epestfind swissprot:CLCN4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CLCN4_HUMAN garnier swissprot:CLCN4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CLCN4_HUMAN helixturnhelix swissprot:CLCN4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CLCN4_HUMAN hmoment swissprot:CLCN4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CLCN4_HUMAN iep swissprot:CLCN4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CLCN4_HUMAN inforesidue swissprot:CLCN4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CLCN4_HUMAN neXtProt NX_P51793 http://www.nextprot.org/db/entry/NX_P51793 octanol swissprot:CLCN4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CLCN4_HUMAN pepcoil swissprot:CLCN4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CLCN4_HUMAN pepdigest swissprot:CLCN4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CLCN4_HUMAN pepinfo swissprot:CLCN4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CLCN4_HUMAN pepnet swissprot:CLCN4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CLCN4_HUMAN pepstats swissprot:CLCN4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CLCN4_HUMAN pepwheel swissprot:CLCN4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CLCN4_HUMAN pepwindow swissprot:CLCN4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CLCN4_HUMAN sigcleave swissprot:CLCN4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CLCN4_HUMAN ## Database ID URL or Descriptions # CAUTION Is shorter at the C-terminus than its mouse ortholog due to the presence of a premature stop codon. As a consequence, it lacks the fourth transmembrane span. {ECO 0000305}. # Ensembl ENST00000372617 ENSP00000361700; ENSG00000188828 # ExpressionAtlas Q5JXX5 baseline and differential # FUNCTION GLRA4_HUMAN Glycine receptors are ligand-gated chloride channels. Channel opening is triggered by extracellular glycine. Channel opening is also triggered by taurine and beta-alanine. Plays a role in the down-regulation of neuronal excitability. Contributes to the generation of inhibitory postsynaptic currents. {ECO 0000250|UniProtKB Q61603}. # GO_component GO:0005887 integral component of plasma membrane; IEA:Ensembl. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0030425 dendrite; IEA:UniProtKB-SubCell. # GO_component GO:0034707 chloride channel complex; IEA:UniProtKB-KW. # GO_component GO:0043204 perikaryon; IEA:UniProtKB-SubCell. # GO_component GO:0045211 postsynaptic membrane; IEA:UniProtKB-SubCell. # GO_function GO:0016594 glycine binding; IEA:InterPro. # GO_function GO:0016934 extracellular-glycine-gated chloride channel activity; IEA:Ensembl. # GO_function GO:0022824 transmitter-gated ion channel activity; IEA:InterPro. # GO_process GO:0007218 neuropeptide signaling pathway; IBA:GO_Central. # GO_process GO:0043200 response to amino acid; IBA:GO_Central. # GO_process GO:0060012 synaptic transmission, glycinergic; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # Gene3D 2.70.170.10 -; 1. # HGNC HGNC:31715 GLRA4 # InterPro IPR006028 GABAA/Glycine_rcpt # InterPro IPR006029 Neurotrans-gated_channel_TM # InterPro IPR006201 Neur_channel # InterPro IPR006202 Neur_chan_lig-bd # InterPro IPR008127 Glycine_rcpt_A # InterPro IPR018000 Neurotransmitter_ion_chnl_CS # KEGG_Brite ko04040 Ion channels # MISCELLANEOUS The alpha subunit binds strychnine. {ECO:0000250|UniProtKB Q61603}. # Organism GLRA4_HUMAN Homo sapiens (Human) # PANTHER PTHR18945 PTHR18945 # PRINTS PR00252 NRIONCHANNEL # PRINTS PR00253 GABAARECEPTR # PRINTS PR01673 GLYRALPHA # PROSITE PS00236 NEUROTR_ION_CHANNEL # Pfam PF02931 Neur_chan_LBD # Pfam PF02932 Neur_chan_memb # Proteomes UP000005640 Chromosome X # Reactome R-HSA-975298 Ligand-gated ion channel transport # RecName GLRA4_HUMAN Glycine receptor subunit alpha-4 # RefSeq NP_001019623 NM_001024452.2 # SIMILARITY Belongs to the ligand-gated ion channel (TC 1.A.9) family. Glycine receptor (TC 1.A.9.3) subfamily. GLRA4 sub- subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION GLRA4_HUMAN Cell junction, synapse, postsynaptic cell membrane {ECO 0000250|UniProtKB Q61603}; Multi-pass membrane protein {ECO 0000250|UniProtKB Q61603}. Cell junction, synapse {ECO 0000250|UniProtKB Q61603}. Perikaryon {ECO 0000250|UniProtKB Q61603}. Cell projection, dendrite {ECO 0000250|UniProtKB Q61603}. Cell membrane {ECO 0000250|UniProtKB Q61603}; Multi-pass membrane protein {ECO 0000250|UniProtKB Q61603}. # SUBUNIT Homopentamer (in vitro). Pentamer composed of alpha and beta subunits. {ECO:0000250, ECO 0000250|UniProtKB:Q61603}. # SUPFAM SSF63712 SSF63712 # SUPFAM SSF90112 SSF90112 # TIGRFAMs TIGR00860 LIC # TISSUE SPECIFICITY Detected in trachea smooth muscle. {ECO:0000269|PubMed 21282206}. # UCSC uc011mse human # eggNOG ENOG410XPWH LUCA # eggNOG KOG3643 Eukaryota BLAST swissprot:GLRA4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:GLRA4_HUMAN BioCyc ZFISH:G66-31440-MONOMER http://biocyc.org/getid?id=ZFISH:G66-31440-MONOMER COXPRESdb 441509 http://coxpresdb.jp/data/gene/441509.shtml CleanEx HS_GLRA4 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_GLRA4 DOI 10.1038/nature03440 http://dx.doi.org/10.1038/nature03440 DOI 10.1096/fj.10-170530 http://dx.doi.org/10.1096/fj.10-170530 EMBL AL049610 http://www.ebi.ac.uk/ena/data/view/AL049610 EMBL AL049610 http://www.ebi.ac.uk/ena/data/view/AL049610 EMBL Z93848 http://www.ebi.ac.uk/ena/data/view/Z93848 EMBL Z93848 http://www.ebi.ac.uk/ena/data/view/Z93848 Ensembl ENST00000372617 http://www.ensembl.org/id/ENST00000372617 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0030425 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030425 GO_component GO:0034707 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034707 GO_component GO:0043204 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043204 GO_component GO:0045211 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045211 GO_function GO:0016594 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016594 GO_function GO:0016934 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016934 GO_function GO:0022824 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022824 GO_process GO:0007218 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007218 GO_process GO:0043200 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043200 GO_process GO:0060012 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060012 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 Gene3D 2.70.170.10 http://www.cathdb.info/version/latest/superfamily/2.70.170.10 GeneCards GLRA4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=GLRA4 GeneID 441509 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=441509 GeneTree ENSGT00760000118821 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118821 HGNC HGNC:31715 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:31715 HOGENOM HOG000231336 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231336&db=HOGENOM6 HOVERGEN HBG051707 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG051707&db=HOVERGEN HPA HPA044759 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA044759 InParanoid Q5JXX5 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q5JXX5 InterPro IPR006028 http://www.ebi.ac.uk/interpro/entry/IPR006028 InterPro IPR006029 http://www.ebi.ac.uk/interpro/entry/IPR006029 InterPro IPR006201 http://www.ebi.ac.uk/interpro/entry/IPR006201 InterPro IPR006202 http://www.ebi.ac.uk/interpro/entry/IPR006202 InterPro IPR008127 http://www.ebi.ac.uk/interpro/entry/IPR008127 InterPro IPR018000 http://www.ebi.ac.uk/interpro/entry/IPR018000 Jabion 441509 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=441509 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:441509 http://www.genome.jp/dbget-bin/www_bget?hsa:441509 KEGG_Orthology KO:K05271 http://www.genome.jp/dbget-bin/www_bget?KO:K05271 OMA ARDGGPM http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=ARDGGPM OrthoDB EOG091G0805 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0805 PANTHER PTHR18945 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR18945 PRINTS PR00252 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00252 PRINTS PR00253 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00253 PRINTS PR01673 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01673 PROSITE PS00236 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00236 PSORT swissprot:GLRA4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:GLRA4_HUMAN PSORT-B swissprot:GLRA4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:GLRA4_HUMAN PSORT2 swissprot:GLRA4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:GLRA4_HUMAN Pfam PF02931 http://pfam.xfam.org/family/PF02931 Pfam PF02932 http://pfam.xfam.org/family/PF02932 PharmGKB PA142671731 http://www.pharmgkb.org/do/serve?objId=PA142671731&objCls=Gene Phobius swissprot:GLRA4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:GLRA4_HUMAN PhylomeDB Q5JXX5 http://phylomedb.org/?seqid=Q5JXX5 ProteinModelPortal Q5JXX5 http://www.proteinmodelportal.org/query/uniprot/Q5JXX5 PubMed 15772651 http://www.ncbi.nlm.nih.gov/pubmed/15772651 PubMed 21282206 http://www.ncbi.nlm.nih.gov/pubmed/21282206 Reactome R-HSA-975298 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-975298 RefSeq NP_001019623 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001019623 SMR Q5JXX5 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q5JXX5 STRING 9606.ENSP00000361700 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000361700&targetmode=cogs SUPFAM SSF63712 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF63712 SUPFAM SSF90112 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF90112 TIGRFAMs TIGR00860 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00860 UCSC uc011mse http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc011mse&org=rat UniGene Hs.533289 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.533289 UniProtKB GLRA4_HUMAN http://www.uniprot.org/uniprot/GLRA4_HUMAN UniProtKB-AC Q5JXX5 http://www.uniprot.org/uniprot/Q5JXX5 charge swissprot:GLRA4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:GLRA4_HUMAN eggNOG ENOG410XPWH http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XPWH eggNOG KOG3643 http://eggnogapi.embl.de/nog_data/html/tree/KOG3643 epestfind swissprot:GLRA4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:GLRA4_HUMAN garnier swissprot:GLRA4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:GLRA4_HUMAN helixturnhelix swissprot:GLRA4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:GLRA4_HUMAN hmoment swissprot:GLRA4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:GLRA4_HUMAN iep swissprot:GLRA4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:GLRA4_HUMAN inforesidue swissprot:GLRA4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:GLRA4_HUMAN neXtProt NX_Q5JXX5 http://www.nextprot.org/db/entry/NX_Q5JXX5 octanol swissprot:GLRA4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:GLRA4_HUMAN pepcoil swissprot:GLRA4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:GLRA4_HUMAN pepdigest swissprot:GLRA4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:GLRA4_HUMAN pepinfo swissprot:GLRA4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:GLRA4_HUMAN pepnet swissprot:GLRA4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:GLRA4_HUMAN pepstats swissprot:GLRA4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:GLRA4_HUMAN pepwheel swissprot:GLRA4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:GLRA4_HUMAN pepwindow swissprot:GLRA4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:GLRA4_HUMAN sigcleave swissprot:GLRA4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:GLRA4_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS AP2A1_HUMAN Event=Alternative splicing; Named isoforms=2; Name=A; IsoId=O95782-1; Sequence=Displayed; Name=B; IsoId=O95782-2; Sequence=VSP_000161; # AltName AP2A1_HUMAN 100 kDa coated vesicle protein A # AltName AP2A1_HUMAN Adaptor protein complex AP-2 subunit alpha-1 # AltName AP2A1_HUMAN Adaptor-related protein complex 2 subunit alpha-1 # AltName AP2A1_HUMAN Alpha-adaptin A # AltName AP2A1_HUMAN Alpha1-adaptin # AltName AP2A1_HUMAN Clathrin assembly protein complex 2 alpha-A large chain # AltName AP2A1_HUMAN Plasma membrane adaptor HA2/AP2 adaptin alpha A subunit # BioGrid 106669 120 # CCDS CCDS46148 -. [O95782-1] # CCDS CCDS46149 -. [O95782-2] # ChiTaRS AP2A1 human # Ensembl ENST00000354293 ENSP00000346246; ENSG00000196961. [O95782-2] # Ensembl ENST00000359032 ENSP00000351926; ENSG00000196961. [O95782-1] # ExpressionAtlas O95782 baseline and differential # FUNCTION AP2A1_HUMAN Component of the adaptor protein complex 2 (AP-2). Adaptor protein complexes function in protein transport via transport vesicles in different membrane traffic pathways. Adaptor protein complexes are vesicle coat components and appear to be involved in cargo selection and vesicle formation. AP-2 is involved in clathrin-dependent endocytosis in which cargo proteins are incorporated into vesicles surrounded by clathrin (clathrin- coated vesicles, CCVs) which are destined for fusion with the early endosome. The clathrin lattice serves as a mechanical scaffold but is itself unable to bind directly to membrane components. Clathrin-associated adaptor protein (AP) complexes which can bind directly to both the clathrin lattice and to the lipid and protein components of membranes are considered to be the major clathrin adaptors contributing the CCV formation. AP-2 also serves as a cargo receptor to selectively sort the membrane proteins involved in receptor-mediated endocytosis. AP-2 seems to play a role in the recycling of synaptic vesicle membranes from the presynaptic surface. AP-2 recognizes Y-X-X-[FILMV] (Y-X-X-Phi) and [ED]-X-X-X-L-[LI] endocytosis signal motifs within the cytosolic tails of transmembrane cargo molecules. AP-2 may also play a role in maintaining normal post-endocytic trafficking through the ARF6-regulated, non-clathrin pathway. The AP-2 alpha subunit binds polyphosphoinositide-containing lipids, positioning AP-2 on the membrane. The AP-2 alpha subunit acts via its C- terminal appendage domain as a scaffolding platform for endocytic accessory proteins. The AP-2 alpha and AP-2 sigma subunits are thought to contribute to the recognition of the [ED]-X-X-X-L-[LI] motif (By similarity). {ECO 0000250, ECO 0000269|PubMed 14745134, ECO 0000269|PubMed 15473838, ECO 0000269|PubMed 19033387}. # GO_component GO:0005829 cytosol; TAS:Reactome. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0016323 basolateral plasma membrane; IEA:Ensembl. # GO_component GO:0016324 apical plasma membrane; IEA:Ensembl. # GO_component GO:0030122 AP-2 adaptor complex; NAS:UniProtKB. # GO_component GO:0030130 clathrin coat of trans-Golgi network vesicle; NAS:UniProtKB. # GO_component GO:0030666 endocytic vesicle membrane; TAS:Reactome. # GO_component GO:0030669 clathrin-coated endocytic vesicle membrane; TAS:Reactome. # GO_component GO:0032433 filopodium tip; IEA:Ensembl. # GO_component GO:0036020 endolysosome membrane; TAS:Reactome. # GO_function GO:0008565 protein transporter activity; IEA:InterPro. # GO_function GO:0019901 protein kinase binding; ISS:ParkinsonsUK-UCL. # GO_process GO:0006886 intracellular protein transport; NAS:UniProtKB. # GO_process GO:0006895 Golgi to endosome transport; NAS:UniProtKB. # GO_process GO:0006897 endocytosis; NAS:UniProtKB. # GO_process GO:0007018 microtubule-based movement; TAS:Reactome. # GO_process GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II; TAS:Reactome. # GO_process GO:0042059 negative regulation of epidermal growth factor receptor signaling pathway; TAS:Reactome. # GO_process GO:0048013 ephrin receptor signaling pathway; TAS:Reactome. # GO_process GO:0050690 regulation of defense response to virus by virus; TAS:Reactome. # GO_process GO:0060071 Wnt signaling pathway, planar cell polarity pathway; TAS:Reactome. # GO_process GO:0072583 clathrin-dependent endocytosis; TAS:BHF-UCL. # GO_process GO:1900126 negative regulation of hyaluronan biosynthetic process; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005829 cytosol # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043234 protein complex # GOslim_function GO:0008565 protein transporter activity # GOslim_function GO:0019899 enzyme binding # GOslim_process GO:0002376 immune system process # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0016192 vesicle-mediated transport # Gene3D 1.25.10.10 -; 1. # Gene3D 2.60.40.1030 -; 1. # Gene3D 3.30.310.30 -; 1. # Genevisible O95782 HS # HGNC HGNC:561 AP2A1 # IntAct O95782 67 # InterPro IPR002553 Clathrin/coatomer_adapt-like_N # InterPro IPR003164 Clathrin_a-adaptin_app_sub_C # InterPro IPR008152 Clathrin_a/b/g-adaptin_app_Ig # InterPro IPR009028 Coatomer/calthrin_app_sub_C # InterPro IPR011989 ARM-like # InterPro IPR013038 Clathrin_a-adaptin_app_Ig-like # InterPro IPR013041 Coatomer/clathrin_app_Ig-like # InterPro IPR015873 Clathrin_a/coatomer_app_sub_C # InterPro IPR016024 ARM-type_fold # InterPro IPR017104 AP2_complex_asu # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Pathway ko04144 Endocytosis # KEGG_Pathway ko04721 Synaptic vesicle cycle # KEGG_Pathway ko04961 Endocrine and other factor-regulated calcium reabsorption # KEGG_Pathway ko05016 Huntington's disease # MIM 601026 gene # Organism AP2A1_HUMAN Homo sapiens (Human) # PIRSF PIRSF037091 AP2_complex_alpha # Pfam PF01602 Adaptin_N # Pfam PF02296 Alpha_adaptin_C # Pfam PF02883 Alpha_adaptinC2 # Proteomes UP000005640 Chromosome 19 # Reactome R-HSA-167590 Nef Mediated CD4 Down-regulation # Reactome R-HSA-171052 LDL-mediated lipid transport # Reactome R-HSA-177504 Retrograde neurotrophin signalling # Reactome R-HSA-182218 Nef Mediated CD8 Down-regulation # Reactome R-HSA-2132295 MHC class II antigen presentation # Reactome R-HSA-3928665 EPH-ephrin mediated repulsion of cells # Reactome R-HSA-416993 Trafficking of GluR2-containing AMPA receptors # Reactome R-HSA-437239 Recycling pathway of L1 # Reactome R-HSA-5099900 WNT5A-dependent internalization of FZD4 # Reactome R-HSA-5140745 WNT5A-dependent internalization of FZD2, FZD5 and ROR2 # Reactome R-HSA-8856825 Cargo recognition for clathrin-mediated endocytosis # Reactome R-HSA-8856828 Clathrin-mediated endocytosis # Reactome R-HSA-8866427 VLDLR internalisation and degradation # RecName AP2A1_HUMAN AP-2 complex subunit alpha-1 # RefSeq NP_055018 NM_014203.2. [O95782-1] # RefSeq NP_570603 NM_130787.2. [O95782-2] # SEQUENCE CAUTION Sequence=AAD15564.1; Type=Erroneous gene model prediction; Evidence={ECO 0000305}; # SIMILARITY Belongs to the adaptor complexes large subunit family. {ECO 0000305}. # SMART SM00809 Alpha_adaptinC2 # SUBCELLULAR LOCATION AP2A1_HUMAN Cell membrane {ECO 0000250}. Membrane, coated pit {ECO 0000250}; Peripheral membrane protein {ECO 0000250}; Cytoplasmic side {ECO 0000250}. Note=AP-2 appears to be excluded from internalizing CCVs and to disengage from sites of endocytosis seconds before internalization of the nascent CCV. {ECO 0000250}. # SUBUNIT AP2A1_HUMAN Adaptor protein complex 2 (AP-2) is a heterotetramer composed of two large adaptins (alpha-type subunit AP2A1 or AP2A2 and beta-type subunit AP2B1), a medium adaptin (mu-type subunit AP2M1) and a small adaptin (sigma-type subunit AP2S1). Interacts with SGIP1 (By similarity). Interacts with HIP1 and RAB11FIP2. Interacts with SLC12A5. Interacts with clathrin. {ECO 0000250, ECO 0000269|PubMed 11532990, ECO 0000269|PubMed 12364336}. # SUPFAM SSF48371 SSF48371 # SUPFAM SSF49348 SSF49348 # SUPFAM SSF55711 SSF55711 # TISSUE SPECIFICITY AP2A1_HUMAN Isoform A expressed in forebrain, skeletal muscle, spinal cord, cerebellum, salivary gland, heart and colon. Isoform B is widely expressed in tissues and also in breast cancer and in prostate carcinoma cells. # UCSC uc002ppn human. [O95782-1] # eggNOG ENOG410XNQE LUCA # eggNOG KOG1077 Eukaryota BLAST swissprot:AP2A1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:AP2A1_HUMAN BioCyc ZFISH:G66-32740-MONOMER http://biocyc.org/getid?id=ZFISH:G66-32740-MONOMER COXPRESdb 160 http://coxpresdb.jp/data/gene/160.shtml CleanEx HS_AP2A1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_AP2A1 DIP DIP-33164N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-33164N DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1016/S0378-1119(02)00504-8 http://dx.doi.org/10.1016/S0378-1119(02)00504-8 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1016/j.molcel.2008.07.007 http://dx.doi.org/10.1016/j.molcel.2008.07.007 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature02399 http://dx.doi.org/10.1038/nature02399 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1074/jbc.M206316200 http://dx.doi.org/10.1074/jbc.M206316200 DOI 10.1093/hmg/10.17.1807 http://dx.doi.org/10.1093/hmg/10.17.1807 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1101/gr.GR1547R http://dx.doi.org/10.1101/gr.GR1547R DOI 10.1126/scisignal.2000007 http://dx.doi.org/10.1126/scisignal.2000007 DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 DOI 10.1146/annurev.cellbio.20.010403.104543 http://dx.doi.org/10.1146/annurev.cellbio.20.010403.104543 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DOI 10.1242/jcs.033522 http://dx.doi.org/10.1242/jcs.033522 DOI 10.1247/csf.28.419 http://dx.doi.org/10.1247/csf.28.419 EMBL AC006942 http://www.ebi.ac.uk/ena/data/view/AC006942 EMBL AC011495 http://www.ebi.ac.uk/ena/data/view/AC011495 EMBL AC098783 http://www.ebi.ac.uk/ena/data/view/AC098783 EMBL AF289221 http://www.ebi.ac.uk/ena/data/view/AF289221 EMBL AF289221 http://www.ebi.ac.uk/ena/data/view/AF289221 EMBL AL136925 http://www.ebi.ac.uk/ena/data/view/AL136925 EMBL BC014214 http://www.ebi.ac.uk/ena/data/view/BC014214 Ensembl ENST00000354293 http://www.ensembl.org/id/ENST00000354293 Ensembl ENST00000359032 http://www.ensembl.org/id/ENST00000359032 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016323 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:0030122 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030122 GO_component GO:0030130 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030130 GO_component GO:0030666 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030666 GO_component GO:0030669 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030669 GO_component GO:0032433 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032433 GO_component GO:0036020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0036020 GO_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GO_function GO:0019901 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019901 GO_process GO:0006886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006886 GO_process GO:0006895 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006895 GO_process GO:0006897 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006897 GO_process GO:0007018 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007018 GO_process GO:0019886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019886 GO_process GO:0042059 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042059 GO_process GO:0048013 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048013 GO_process GO:0050690 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050690 GO_process GO:0060071 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060071 GO_process GO:0072583 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0072583 GO_process GO:1900126 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1900126 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_function GO:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GOslim_process GO:0002376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002376 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0016192 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016192 Gene3D 1.25.10.10 http://www.cathdb.info/version/latest/superfamily/1.25.10.10 Gene3D 2.60.40.1030 http://www.cathdb.info/version/latest/superfamily/2.60.40.1030 Gene3D 3.30.310.30 http://www.cathdb.info/version/latest/superfamily/3.30.310.30 GeneCards AP2A1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=AP2A1 GeneID 160 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=160 GeneTree ENSGT00550000074757 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074757 HGNC HGNC:561 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:561 HOGENOM HOG000170596 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000170596&db=HOGENOM6 HOVERGEN HBG050518 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050518&db=HOVERGEN HPA CAB004306 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB004306 InParanoid O95782 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O95782 IntAct O95782 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O95782* InterPro IPR002553 http://www.ebi.ac.uk/interpro/entry/IPR002553 InterPro IPR003164 http://www.ebi.ac.uk/interpro/entry/IPR003164 InterPro IPR008152 http://www.ebi.ac.uk/interpro/entry/IPR008152 InterPro IPR009028 http://www.ebi.ac.uk/interpro/entry/IPR009028 InterPro IPR011989 http://www.ebi.ac.uk/interpro/entry/IPR011989 InterPro IPR013038 http://www.ebi.ac.uk/interpro/entry/IPR013038 InterPro IPR013041 http://www.ebi.ac.uk/interpro/entry/IPR013041 InterPro IPR015873 http://www.ebi.ac.uk/interpro/entry/IPR015873 InterPro IPR016024 http://www.ebi.ac.uk/interpro/entry/IPR016024 InterPro IPR017104 http://www.ebi.ac.uk/interpro/entry/IPR017104 Jabion 160 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=160 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Gene hsa:160 http://www.genome.jp/dbget-bin/www_bget?hsa:160 KEGG_Orthology KO:K11824 http://www.genome.jp/dbget-bin/www_bget?KO:K11824 KEGG_Pathway ko04144 http://www.genome.jp/kegg-bin/show_pathway?ko04144 KEGG_Pathway ko04721 http://www.genome.jp/kegg-bin/show_pathway?ko04721 KEGG_Pathway ko04961 http://www.genome.jp/kegg-bin/show_pathway?ko04961 KEGG_Pathway ko05016 http://www.genome.jp/kegg-bin/show_pathway?ko05016 MIM 601026 http://www.ncbi.nlm.nih.gov/omim/601026 MINT MINT-5002322 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-5002322 OMA INIKFRY http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=INIKFRY OrthoDB EOG091G01JZ http://cegg.unige.ch/orthodb/results?searchtext=EOG091G01JZ PSORT swissprot:AP2A1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:AP2A1_HUMAN PSORT-B swissprot:AP2A1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:AP2A1_HUMAN PSORT2 swissprot:AP2A1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:AP2A1_HUMAN Pfam PF01602 http://pfam.xfam.org/family/PF01602 Pfam PF02296 http://pfam.xfam.org/family/PF02296 Pfam PF02883 http://pfam.xfam.org/family/PF02883 PharmGKB PA24852 http://www.pharmgkb.org/do/serve?objId=PA24852&objCls=Gene Phobius swissprot:AP2A1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:AP2A1_HUMAN PhylomeDB O95782 http://phylomedb.org/?seqid=O95782 ProteinModelPortal O95782 http://www.proteinmodelportal.org/query/uniprot/O95782 PubMed 11230166 http://www.ncbi.nlm.nih.gov/pubmed/11230166 PubMed 11532990 http://www.ncbi.nlm.nih.gov/pubmed/11532990 PubMed 12036598 http://www.ncbi.nlm.nih.gov/pubmed/12036598 PubMed 12364336 http://www.ncbi.nlm.nih.gov/pubmed/12364336 PubMed 14745134 http://www.ncbi.nlm.nih.gov/pubmed/14745134 PubMed 15057824 http://www.ncbi.nlm.nih.gov/pubmed/15057824 PubMed 15473838 http://www.ncbi.nlm.nih.gov/pubmed/15473838 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 18691976 http://www.ncbi.nlm.nih.gov/pubmed/18691976 PubMed 19033387 http://www.ncbi.nlm.nih.gov/pubmed/19033387 PubMed 19690332 http://www.ncbi.nlm.nih.gov/pubmed/19690332 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 Reactome R-HSA-167590 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-167590 Reactome R-HSA-171052 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-171052 Reactome R-HSA-177504 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-177504 Reactome R-HSA-182218 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-182218 Reactome R-HSA-2132295 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2132295 Reactome R-HSA-3928665 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-3928665 Reactome R-HSA-416993 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-416993 Reactome R-HSA-437239 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-437239 Reactome R-HSA-5099900 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5099900 Reactome R-HSA-5140745 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5140745 Reactome R-HSA-8856825 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-8856825 Reactome R-HSA-8856828 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-8856828 Reactome R-HSA-8866427 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-8866427 RefSeq NP_055018 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_055018 RefSeq NP_570603 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_570603 SMART SM00809 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00809 SMR O95782 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=O95782 STRING 9606.ENSP00000351926 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000351926&targetmode=cogs SUPFAM SSF48371 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48371 SUPFAM SSF49348 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF49348 SUPFAM SSF55711 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF55711 UCSC uc002ppn http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002ppn&org=rat UniGene Hs.467125 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.467125 UniProtKB AP2A1_HUMAN http://www.uniprot.org/uniprot/AP2A1_HUMAN UniProtKB-AC O95782 http://www.uniprot.org/uniprot/O95782 charge swissprot:AP2A1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:AP2A1_HUMAN eggNOG ENOG410XNQE http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XNQE eggNOG KOG1077 http://eggnogapi.embl.de/nog_data/html/tree/KOG1077 epestfind swissprot:AP2A1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:AP2A1_HUMAN garnier swissprot:AP2A1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:AP2A1_HUMAN helixturnhelix swissprot:AP2A1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:AP2A1_HUMAN hmoment swissprot:AP2A1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:AP2A1_HUMAN iep swissprot:AP2A1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:AP2A1_HUMAN inforesidue swissprot:AP2A1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:AP2A1_HUMAN neXtProt NX_O95782 http://www.nextprot.org/db/entry/NX_O95782 octanol swissprot:AP2A1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:AP2A1_HUMAN pepcoil swissprot:AP2A1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:AP2A1_HUMAN pepdigest swissprot:AP2A1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:AP2A1_HUMAN pepinfo swissprot:AP2A1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:AP2A1_HUMAN pepnet swissprot:AP2A1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:AP2A1_HUMAN pepstats swissprot:AP2A1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:AP2A1_HUMAN pepwheel swissprot:AP2A1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:AP2A1_HUMAN pepwindow swissprot:AP2A1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:AP2A1_HUMAN sigcleave swissprot:AP2A1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:AP2A1_HUMAN ## Database ID URL or Descriptions # AltName S15A1_HUMAN Intestinal H(+)/peptide cotransporter # AltName S15A1_HUMAN Oligopeptide transporter, small intestine isoform # AltName S15A1_HUMAN Peptide transporter 1 # BioGrid 112452 64 # CDD cd06174 MFS # DrugBank DB00178 Ramipril # DrugBank DB00198 Oseltamivir # DrugBank DB00211 Midodrine # DrugBank DB00274 Cefmetazole # DrugBank DB00415 Ampicillin # DrugBank DB00417 Phenoxymethylpenicillin # DrugBank DB00438 Ceftazidime # DrugBank DB00456 Cefalotin # DrugBank DB00485 Dicloxacillin # DrugBank DB00492 Fosinopril # DrugBank DB00493 Cefotaxime # DrugBank DB00519 Trandolapril # DrugBank DB00535 Cefdinir # DrugBank DB00542 Benazepril # DrugBank DB00567 Cephalexin # DrugBank DB00577 Valaciclovir # DrugBank DB00584 Enalapril # DrugBank DB00671 Cefixime # DrugBank DB00672 Chlorpropamide # DrugBank DB00691 Moexipril # DrugBank DB00713 Oxacillin # DrugBank DB00722 Lisinopril # DrugBank DB00731 Nateglinide # DrugBank DB00790 Perindopril # DrugBank DB00833 Cefaclor # DrugBank DB00855 Aminolevulinic acid # DrugBank DB00881 Quinapril # DrugBank DB00968 Methyldopa # DrugBank DB01000 Cyclacillin # DrugBank DB01016 Glyburide # DrugBank DB01053 Benzylpenicillin # DrugBank DB01060 Amoxicillin # DrugBank DB01095 Fluvastatin # DrugBank DB01112 Cefuroxime # DrugBank DB01124 Tolbutamide # DrugBank DB01140 Cefadroxil # DrugBank DB01147 Cloxacillin # DrugBank DB01197 Captopril # DrugBank DB01212 Ceftriaxone # DrugBank DB01235 Levodopa # DrugBank DB01332 Ceftizoxime # DrugBank DB01333 Cefradine # DrugBank DB01340 Cilazapril # DrugBank DB01348 Spirapril # DrugBank DB01413 Cefepime # DrugBank DB01415 Ceftibuten # DrugBank DB01610 Valganciclovir # DrugBank DB08795 Azidocillin # Ensembl ENST00000376503 ENSP00000365686; ENSG00000088386 # ExpressionAtlas P46059 baseline and differential # FUNCTION S15A1_HUMAN Proton-coupled intake of oligopeptides of 2 to 4 amino acids with a preference for dipeptides. May constitute a major route for the absorption of protein digestion end-products. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0005903 brush border; IEA:Ensembl. # GO_component GO:0016020 membrane; TAS:ProtInc. # GO_function GO:0005427 proton-dependent oligopeptide secondary active transmembrane transporter activity; IEA:Ensembl. # GO_function S15A1_HUMAN GO 0015333 peptide proton symporter activity; TAS Reactome. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0006811 ion transport; TAS:Reactome. # GO_process GO:0007586 digestion; TAS:ProtInc. # GO_process GO:0015031 protein transport; IEA:UniProtKB-KW. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # Genevisible P46059 HS # HGNC HGNC:10920 SLC15A1 # InterPro IPR000109 POT_fam # InterPro IPR004768 Oligopep_transport # InterPro IPR018456 PTR2_symporter_CS # InterPro IPR020846 MFS_dom # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02001 Solute carrier family # KEGG_Pathway ko04974 Protein digestion and absorption # MIM 600544 gene # Organism S15A1_HUMAN Homo sapiens (Human) # PANTHER PTHR11654 PTHR11654; 2 # PIR A56163 A56163 # PROSITE PS01022 PTR2_1 # PROSITE PS01023 PTR2_2 # Pfam PF00854 PTR2; 2 # Proteomes UP000005640 Chromosome 13 # Reactome R-HSA-427975 Proton/oligopeptide cotransporters # RecName S15A1_HUMAN Solute carrier family 15 member 1 # RefSeq NP_005064 NM_005073.3 # SIMILARITY Belongs to the PTR2/POT transporter (TC 2.A.17) family. {ECO 0000305}. # SUBCELLULAR LOCATION S15A1_HUMAN Membrane; Multi-pass membrane protein. # SUPFAM SSF103473 SSF103473; 2 # TCDB 2.A.17.4 the proton-dependent oligopeptide transporter (pot/ptr) family # TIGRFAMs TIGR00926 2A1704 # UCSC uc001vno human # eggNOG COG3104 LUCA # eggNOG KOG1237 Eukaryota BLAST swissprot:S15A1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S15A1_HUMAN BioCyc ZFISH:ENSG00000088386-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000088386-MONOMER COXPRESdb 6564 http://coxpresdb.jp/data/gene/6564.shtml CleanEx HS_SLC15A1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC15A1 DOI 10.1007/s100380200088 http://dx.doi.org/10.1007/s100380200088 DOI 10.1038/nature02379 http://dx.doi.org/10.1038/nature02379 DOI 10.1074/jbc.270.12.6456 http://dx.doi.org/10.1074/jbc.270.12.6456 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1124/jpet.105.094615 http://dx.doi.org/10.1124/jpet.105.094615 DrugBank DB00178 http://www.drugbank.ca/drugs/DB00178 DrugBank DB00198 http://www.drugbank.ca/drugs/DB00198 DrugBank DB00211 http://www.drugbank.ca/drugs/DB00211 DrugBank DB00274 http://www.drugbank.ca/drugs/DB00274 DrugBank DB00415 http://www.drugbank.ca/drugs/DB00415 DrugBank DB00417 http://www.drugbank.ca/drugs/DB00417 DrugBank DB00438 http://www.drugbank.ca/drugs/DB00438 DrugBank DB00456 http://www.drugbank.ca/drugs/DB00456 DrugBank DB00485 http://www.drugbank.ca/drugs/DB00485 DrugBank DB00492 http://www.drugbank.ca/drugs/DB00492 DrugBank DB00493 http://www.drugbank.ca/drugs/DB00493 DrugBank DB00519 http://www.drugbank.ca/drugs/DB00519 DrugBank DB00535 http://www.drugbank.ca/drugs/DB00535 DrugBank DB00542 http://www.drugbank.ca/drugs/DB00542 DrugBank DB00567 http://www.drugbank.ca/drugs/DB00567 DrugBank DB00577 http://www.drugbank.ca/drugs/DB00577 DrugBank DB00584 http://www.drugbank.ca/drugs/DB00584 DrugBank DB00671 http://www.drugbank.ca/drugs/DB00671 DrugBank DB00672 http://www.drugbank.ca/drugs/DB00672 DrugBank DB00691 http://www.drugbank.ca/drugs/DB00691 DrugBank DB00713 http://www.drugbank.ca/drugs/DB00713 DrugBank DB00722 http://www.drugbank.ca/drugs/DB00722 DrugBank DB00731 http://www.drugbank.ca/drugs/DB00731 DrugBank DB00790 http://www.drugbank.ca/drugs/DB00790 DrugBank DB00833 http://www.drugbank.ca/drugs/DB00833 DrugBank DB00855 http://www.drugbank.ca/drugs/DB00855 DrugBank DB00881 http://www.drugbank.ca/drugs/DB00881 DrugBank DB00968 http://www.drugbank.ca/drugs/DB00968 DrugBank DB01000 http://www.drugbank.ca/drugs/DB01000 DrugBank DB01016 http://www.drugbank.ca/drugs/DB01016 DrugBank DB01053 http://www.drugbank.ca/drugs/DB01053 DrugBank DB01060 http://www.drugbank.ca/drugs/DB01060 DrugBank DB01095 http://www.drugbank.ca/drugs/DB01095 DrugBank DB01112 http://www.drugbank.ca/drugs/DB01112 DrugBank DB01124 http://www.drugbank.ca/drugs/DB01124 DrugBank DB01140 http://www.drugbank.ca/drugs/DB01140 DrugBank DB01147 http://www.drugbank.ca/drugs/DB01147 DrugBank DB01197 http://www.drugbank.ca/drugs/DB01197 DrugBank DB01212 http://www.drugbank.ca/drugs/DB01212 DrugBank DB01235 http://www.drugbank.ca/drugs/DB01235 DrugBank DB01332 http://www.drugbank.ca/drugs/DB01332 DrugBank DB01333 http://www.drugbank.ca/drugs/DB01333 DrugBank DB01340 http://www.drugbank.ca/drugs/DB01340 DrugBank DB01348 http://www.drugbank.ca/drugs/DB01348 DrugBank DB01413 http://www.drugbank.ca/drugs/DB01413 DrugBank DB01415 http://www.drugbank.ca/drugs/DB01415 DrugBank DB01610 http://www.drugbank.ca/drugs/DB01610 DrugBank DB08795 http://www.drugbank.ca/drugs/DB08795 EMBL AL353574 http://www.ebi.ac.uk/ena/data/view/AL353574 EMBL AL353574 http://www.ebi.ac.uk/ena/data/view/AL353574 EMBL AL391670 http://www.ebi.ac.uk/ena/data/view/AL391670 EMBL AL391670 http://www.ebi.ac.uk/ena/data/view/AL391670 EMBL BC096328 http://www.ebi.ac.uk/ena/data/view/BC096328 EMBL BC096329 http://www.ebi.ac.uk/ena/data/view/BC096329 EMBL U13173 http://www.ebi.ac.uk/ena/data/view/U13173 EMBL U21936 http://www.ebi.ac.uk/ena/data/view/U21936 Ensembl ENST00000376503 http://www.ensembl.org/id/ENST00000376503 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0005903 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005903 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_function GO:0005427 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005427 GO_function GO:0015333 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015333 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0006811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006811 GO_process GO:0007586 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007586 GO_process GO:0015031 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015031 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GeneCards SLC15A1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC15A1 GeneID 6564 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6564 GeneTree ENSGT00530000062961 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000062961 HGNC HGNC:10920 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10920 HOGENOM HOG000285186 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000285186&db=HOGENOM6 HOVERGEN HBG052962 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052962&db=HOVERGEN HPA HPA002827 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA002827 InParanoid P46059 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P46059 InterPro IPR000109 http://www.ebi.ac.uk/interpro/entry/IPR000109 InterPro IPR004768 http://www.ebi.ac.uk/interpro/entry/IPR004768 InterPro IPR018456 http://www.ebi.ac.uk/interpro/entry/IPR018456 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 6564 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6564 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:6564 http://www.genome.jp/dbget-bin/www_bget?hsa:6564 KEGG_Orthology KO:K14206 http://www.genome.jp/dbget-bin/www_bget?KO:K14206 KEGG_Pathway ko04974 http://www.genome.jp/kegg-bin/show_pathway?ko04974 MIM 600544 http://www.ncbi.nlm.nih.gov/omim/600544 OMA AYTYVIR http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=AYTYVIR OrthoDB EOG091G0M1S http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0M1S PANTHER PTHR11654 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11654 PROSITE PS01022 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS01022 PROSITE PS01023 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS01023 PSORT swissprot:S15A1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S15A1_HUMAN PSORT-B swissprot:S15A1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S15A1_HUMAN PSORT2 swissprot:S15A1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S15A1_HUMAN Pfam PF00854 http://pfam.xfam.org/family/PF00854 PharmGKB PA323 http://www.pharmgkb.org/do/serve?objId=PA323&objCls=Gene Phobius swissprot:S15A1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S15A1_HUMAN PhylomeDB P46059 http://phylomedb.org/?seqid=P46059 ProteinModelPortal P46059 http://www.proteinmodelportal.org/query/uniprot/P46059 PubMed 12436193 http://www.ncbi.nlm.nih.gov/pubmed/12436193 PubMed 15057823 http://www.ncbi.nlm.nih.gov/pubmed/15057823 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16258023 http://www.ncbi.nlm.nih.gov/pubmed/16258023 PubMed 7896779 http://www.ncbi.nlm.nih.gov/pubmed/7896779 Reactome R-HSA-427975 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-427975 RefSeq NP_005064 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_005064 SMR P46059 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P46059 STRING 9606.ENSP00000365686 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000365686&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.17.4 http://www.tcdb.org/search/result.php?tc=2.A.17.4 TIGRFAMs TIGR00926 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00926 UCSC uc001vno http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001vno&org=rat UniGene Hs.436893 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.436893 UniProtKB S15A1_HUMAN http://www.uniprot.org/uniprot/S15A1_HUMAN UniProtKB-AC P46059 http://www.uniprot.org/uniprot/P46059 charge swissprot:S15A1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S15A1_HUMAN eggNOG COG3104 http://eggnogapi.embl.de/nog_data/html/tree/COG3104 eggNOG KOG1237 http://eggnogapi.embl.de/nog_data/html/tree/KOG1237 epestfind swissprot:S15A1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S15A1_HUMAN garnier swissprot:S15A1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S15A1_HUMAN helixturnhelix swissprot:S15A1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S15A1_HUMAN hmoment swissprot:S15A1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S15A1_HUMAN iep swissprot:S15A1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S15A1_HUMAN inforesidue swissprot:S15A1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S15A1_HUMAN neXtProt NX_P46059 http://www.nextprot.org/db/entry/NX_P46059 octanol swissprot:S15A1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S15A1_HUMAN pepcoil swissprot:S15A1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S15A1_HUMAN pepdigest swissprot:S15A1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S15A1_HUMAN pepinfo swissprot:S15A1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S15A1_HUMAN pepnet swissprot:S15A1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S15A1_HUMAN pepstats swissprot:S15A1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S15A1_HUMAN pepwheel swissprot:S15A1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S15A1_HUMAN pepwindow swissprot:S15A1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S15A1_HUMAN sigcleave swissprot:S15A1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S15A1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS CYB5_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; Synonyms=Liver, Membrane-bound; IsoId=P00167-1; Sequence=Displayed; Name=2; Synonyms=Erythrocyte, Cytoplasmic; IsoId=P00167-2; Sequence=VSP_001240, VSP_001241; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=3; IsoId=P00167-3; Sequence=VSP_045367; Note=No experimental confirmation available.; # AltName CYB5_HUMAN Microsomal cytochrome b5 type A # BioGrid 107908 23 # CCDS CCDS12004 -. [P00167-1] # CCDS CCDS12005 -. [P00167-2] # CCDS CCDS54188 -. [P00167-3] # ChiTaRS CYB5A human # DISEASE CYB5_HUMAN Methemoglobinemia CYB5A-related (METHB-CYB5A) [MIM 250790] A form of methemoglobinemia, a hematologic disease characterized by the presence of excessive amounts of methemoglobin in blood cells, resulting in decreased oxygen carrying capacity of the blood, cyanosis and hypoxia. {ECO 0000269|PubMed 8168836}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000340533 ENSP00000341625; ENSG00000166347. [P00167-1] # Ensembl ENST00000397914 ENSP00000381011; ENSG00000166347. [P00167-3] # Ensembl ENST00000494131 ENSP00000436461; ENSG00000166347. [P00167-2] # ExpressionAtlas P00167 baseline and differential # FUNCTION CYB5_HUMAN Cytochrome b5 is a membrane bound hemoprotein which function as an electron carrier for several membrane bound oxygenases. # GO_component GO:0005737 cytoplasm; IDA:HPA. # GO_component GO:0005741 mitochondrial outer membrane; TAS:Reactome. # GO_component GO:0005789 endoplasmic reticulum membrane; IEA:UniProtKB-SubCell. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0043231 intracellular membrane-bounded organelle; IDA:HPA. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0004033 aldo-keto reductase (NADP) activity; TAS:Reactome. # GO_function GO:0004129 cytochrome-c oxidase activity; TAS:ProtInc. # GO_function GO:0019899 enzyme binding; IPI:BHF-UCL. # GO_function GO:0020037 heme binding; IEA:InterPro. # GO_function GO:0046872 metal ion binding; IEA:UniProtKB-KW. # GO_process GO:0019852 L-ascorbic acid metabolic process; TAS:Reactome. # GO_process GO:0046686 response to cadmium ion; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0016491 oxidoreductase activity # GOslim_function GO:0019899 enzyme binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0005975 carbohydrate metabolic process # GOslim_process GO:0008150 biological_process # GOslim_process GO:0044281 small molecule metabolic process # Gene3D 3.10.120.10 -; 1. # Genevisible P00167 HS # HGNC HGNC:2570 CYB5A # IntAct P00167 4 # InterPro IPR001199 Cyt_B5-like_heme/steroid-bd # InterPro IPR018506 Cyt_B5_heme-BS # KEGG_Disease H00235 [Hematologic disease] Methemoglobinemia # MIM 250790 phenotype # MIM 613218 gene # Organism CYB5_HUMAN Homo sapiens (Human) # Orphanet 90796 46,XY disorder of sex development due to isolated 17,20 lyase deficiency # PDB 2I96 NMR; -; A=1-108 # PIR A28936 CBHU5 # PIR JN0075 CBHU5E # PRINTS PR00363 CYTOCHROMEB5 # PROSITE PS00191 CYTOCHROME_B5_1 # PROSITE PS50255 CYTOCHROME_B5_2 # Pfam PF00173 Cyt-b5 # Proteomes UP000005640 Chromosome 18 # Reactome R-HSA-196836 Vitamin C (ascorbate) metabolism # RecName CYB5_HUMAN Cytochrome b5 # RefSeq NP_001177736 NM_001190807.2. [P00167-3] # RefSeq NP_001905 NM_001914.3. [P00167-2] # RefSeq NP_683725 NM_148923.3. [P00167-1] # RefSeq XP_011524137 XM_011525835.2. [P00167-2] # SEQUENCE CAUTION Sequence=AAA63169.1; Type=Erroneous gene model prediction; Evidence={ECO 0000305}; # SIMILARITY Belongs to the cytochrome b5 family. {ECO 0000305}. # SIMILARITY Contains 1 cytochrome b5 heme-binding domain. {ECO:0000255|PROSITE-ProRule PRU00279}. # SMART SM01117 Cyt-b5 # SUBCELLULAR LOCATION CYB5_HUMAN Isoform 1 Endoplasmic reticulum membrane; Single-pass membrane protein; Cytoplasmic side. Microsome membrane; Single-pass membrane protein; Cytoplasmic side. # SUBCELLULAR LOCATION CYB5_HUMAN Isoform 2 Cytoplasm. # SUPFAM SSF55856 SSF55856 # TopDownProteomics P00167-1 -. [P00167-1] # TopDownProteomics P00167-3 -. [P00167-3] # UCSC uc002llh human. [P00167-1] # eggNOG COG5274 LUCA # eggNOG KOG0537 Eukaryota BLAST swissprot:CYB5_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CYB5_HUMAN BioCyc MetaCyc:ENSG00000166347-MONOMER http://biocyc.org/getid?id=MetaCyc:ENSG00000166347-MONOMER BioCyc ZFISH:ENSG00000166347-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000166347-MONOMER COXPRESdb 1528 http://coxpresdb.jp/data/gene/1528.shtml CleanEx HS_CYB5A http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CYB5A DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1006/bbrc.1995.1582 http://dx.doi.org/10.1006/bbrc.1995.1582 DOI 10.1007/BF00202825 http://dx.doi.org/10.1007/BF00202825 DOI 10.1016/0006-291X(91)91776-9 http://dx.doi.org/10.1016/0006-291X(91)91776-9 DOI 10.1016/0167-4838(89)90143-X http://dx.doi.org/10.1016/0167-4838(89)90143-X DOI 10.1016/S0006-291X(88)80881-7 http://dx.doi.org/10.1016/S0006-291X(88)80881-7 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1038/nature03983 http://dx.doi.org/10.1038/nature03983 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AC090398 http://www.ebi.ac.uk/ena/data/view/AC090398 EMBL BC015182 http://www.ebi.ac.uk/ena/data/view/BC015182 EMBL CA771478 http://www.ebi.ac.uk/ena/data/view/CA771478 EMBL CH471117 http://www.ebi.ac.uk/ena/data/view/CH471117 EMBL CR456990 http://www.ebi.ac.uk/ena/data/view/CR456990 EMBL L39792 http://www.ebi.ac.uk/ena/data/view/L39792 EMBL L39941 http://www.ebi.ac.uk/ena/data/view/L39941 EMBL L39942 http://www.ebi.ac.uk/ena/data/view/L39942 EMBL L39943 http://www.ebi.ac.uk/ena/data/view/L39943 EMBL L39944 http://www.ebi.ac.uk/ena/data/view/L39944 EMBL L39945 http://www.ebi.ac.uk/ena/data/view/L39945 EMBL M22865 http://www.ebi.ac.uk/ena/data/view/M22865 EMBL M60174 http://www.ebi.ac.uk/ena/data/view/M60174 Ensembl ENST00000340533 http://www.ensembl.org/id/ENST00000340533 Ensembl ENST00000397914 http://www.ensembl.org/id/ENST00000397914 Ensembl ENST00000494131 http://www.ensembl.org/id/ENST00000494131 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005741 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005741 GO_component GO:0005789 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005789 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0043231 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043231 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0004033 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004033 GO_function GO:0004129 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004129 GO_function GO:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GO_function GO:0020037 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0020037 GO_function GO:0046872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046872 GO_process GO:0019852 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019852 GO_process GO:0046686 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046686 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0016491 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016491 GOslim_function GO:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0005975 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005975 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 Gene3D 3.10.120.10 http://www.cathdb.info/version/latest/superfamily/3.10.120.10 GeneCards CYB5A http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CYB5A GeneID 1528 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=1528 GeneTree ENSGT00510000046507 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00510000046507 HGNC HGNC:2570 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:2570 HOGENOM HOG000039853 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000039853&db=HOGENOM6 HOVERGEN HBG002653 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG002653&db=HOVERGEN HPA CAB006333 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB006333 HPA HPA047548 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA047548 HPA HPA058547 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA058547 InParanoid P00167 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P00167 IntAct P00167 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P00167* InterPro IPR001199 http://www.ebi.ac.uk/interpro/entry/IPR001199 InterPro IPR018506 http://www.ebi.ac.uk/interpro/entry/IPR018506 Jabion 1528 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=1528 KEGG_Disease H00235 http://www.genome.jp/dbget-bin/www_bget?H00235 KEGG_Gene hsa:1528 http://www.genome.jp/dbget-bin/www_bget?hsa:1528 MIM 250790 http://www.ncbi.nlm.nih.gov/omim/250790 MIM 613218 http://www.ncbi.nlm.nih.gov/omim/613218 MINT MINT-3003425 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-3003425 OMA FKSTWII http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=FKSTWII Orphanet 90796 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=90796 OrthoDB EOG091G17G8 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G17G8 PDB 2I96 http://www.ebi.ac.uk/pdbe-srv/view/entry/2I96 PDBsum 2I96 http://www.ebi.ac.uk/pdbsum/2I96 PRINTS PR00363 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00363 PROSITE PS00191 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00191 PROSITE PS50255 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50255 PSORT swissprot:CYB5_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CYB5_HUMAN PSORT-B swissprot:CYB5_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CYB5_HUMAN PSORT2 swissprot:CYB5_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CYB5_HUMAN Pfam PF00173 http://pfam.xfam.org/family/PF00173 PharmGKB PA27068 http://www.pharmgkb.org/do/serve?objId=PA27068&objCls=Gene Phobius swissprot:CYB5_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CYB5_HUMAN PhylomeDB P00167 http://phylomedb.org/?seqid=P00167 ProteinModelPortal P00167 http://www.proteinmodelportal.org/query/uniprot/P00167 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16177791 http://www.ncbi.nlm.nih.gov/pubmed/16177791 PubMed 1712589 http://www.ncbi.nlm.nih.gov/pubmed/1712589 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 2752049 http://www.ncbi.nlm.nih.gov/pubmed/2752049 PubMed 3178851 http://www.ncbi.nlm.nih.gov/pubmed/3178851 PubMed 4030743 http://www.ncbi.nlm.nih.gov/pubmed/4030743 PubMed 4770377 http://www.ncbi.nlm.nih.gov/pubmed/4770377 PubMed 4993957 http://www.ncbi.nlm.nih.gov/pubmed/4993957 PubMed 5062820 http://www.ncbi.nlm.nih.gov/pubmed/5062820 PubMed 7733981 http://www.ncbi.nlm.nih.gov/pubmed/7733981 PubMed 8168836 http://www.ncbi.nlm.nih.gov/pubmed/8168836 Reactome R-HSA-196836 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-196836 RefSeq NP_001177736 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001177736 RefSeq NP_001905 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001905 RefSeq NP_683725 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_683725 RefSeq XP_011524137 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011524137 SMART SM01117 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM01117 SMR P00167 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P00167 STRING 9606.ENSP00000341625 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000341625&targetmode=cogs SUPFAM SSF55856 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF55856 UCSC uc002llh http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002llh&org=rat UniGene Hs.465413 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.465413 UniProtKB CYB5_HUMAN http://www.uniprot.org/uniprot/CYB5_HUMAN UniProtKB-AC P00167 http://www.uniprot.org/uniprot/P00167 charge swissprot:CYB5_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CYB5_HUMAN eggNOG COG5274 http://eggnogapi.embl.de/nog_data/html/tree/COG5274 eggNOG KOG0537 http://eggnogapi.embl.de/nog_data/html/tree/KOG0537 epestfind swissprot:CYB5_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CYB5_HUMAN garnier swissprot:CYB5_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CYB5_HUMAN helixturnhelix swissprot:CYB5_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CYB5_HUMAN hmoment swissprot:CYB5_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CYB5_HUMAN iep swissprot:CYB5_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CYB5_HUMAN inforesidue swissprot:CYB5_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CYB5_HUMAN neXtProt NX_P00167 http://www.nextprot.org/db/entry/NX_P00167 octanol swissprot:CYB5_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CYB5_HUMAN pepcoil swissprot:CYB5_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CYB5_HUMAN pepdigest swissprot:CYB5_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CYB5_HUMAN pepinfo swissprot:CYB5_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CYB5_HUMAN pepnet swissprot:CYB5_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CYB5_HUMAN pepstats swissprot:CYB5_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CYB5_HUMAN pepwheel swissprot:CYB5_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CYB5_HUMAN pepwindow swissprot:CYB5_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CYB5_HUMAN sigcleave swissprot:CYB5_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CYB5_HUMAN ## Database ID URL or Descriptions # AltName Inward rectifying potassium channel protein TWIK-1 {ECO:0000303|PubMed 8605869} # AltName KCNK1_HUMAN Potassium channel KCNO1 # AltName Potassium channel K2P1 {ECO:0000303|PubMed 15820677} # BIOPHYSICOCHEMICAL PROPERTIES KCNK1_HUMAN Kinetic parameters Note=Has a unit conductance of 34 pS. Both activation and channel closure are very rapid. Is not voltage-gated. The relationship between voltage and current is nearly linear. Has a mean open time of 0.3 msec at a membrane potential of -80 mV, and 1.9 msec at +80 mV (PubMed 8605869). {ECO 0000269|PubMed 19959478, ECO 0000269|PubMed 8605869}; # BioGrid 109976 5 # ChiTaRS KCNK1 human # DrugBank DB00308 Ibutilide # DrugBank DB00908 Quinidine # DrugBank DB01346 Quinidine barbiturate # ENZYME REGULATION KCNK1_HUMAN Inhibited by Ba(2+) ions and quinidine (PubMed 8605869). Inhibited by quinine (PubMed 8605869, PubMed 21653227). Is slightly inhibited by 10 mM tetraethylammonium (TEA), and only marginally inhibited by 4- aminopyridine, charybdotoxin and dendrotoxin (PubMed 8605869). Lowering the extracellular pH to below 6.5 transiently activates the channel, and then inhibits channel activity (PubMed 15820677, PubMed 22431633). Inhibited when the intracellular pH is decreased down to pH 6.0, but this may be due to indirect effects (PubMed 8605869). {ECO 0000269|PubMed 15820677, ECO 0000269|PubMed 21653227, ECO 0000269|PubMed 22431633, ECO 0000269|PubMed 8605869}. # Ensembl ENST00000366621 ENSP00000355580; ENSG00000135750 # ExpressionAtlas O00180 baseline and differential # FUNCTION KCNK1_HUMAN Ion channel that contributes to passive transmembrane potassium transport and to the regulation of the resting membrane potential in brain astrocytes, but also in kidney and in other tissues (PubMed 15820677, PubMed 21653227). Forms dimeric channels through which potassium ions pass in accordance with their electrochemical gradient. The channel is selective for K(+) ions at physiological potassium concentrations and at neutral pH, but becomes permeable to Na(+) at subphysiological K(+) levels and upon acidification of the extracellular medium (PubMed 21653227, PubMed 22431633). The homodimer has very low potassium channel activity, when expressed in heterologous systems, and can function as weakly inward rectifying potassium channel (PubMed 8605869, PubMed 8978667, PubMed 15820677, PubMed 21653227, PubMed 22431633, PubMed 23169818, PubMed 25001086). Channel activity is modulated by activation of serotonin receptors (By similarity). Heterodimeric channels containing KCNK1 and KCNK2 have much higher activity, and may represent the predominant form in astrocytes (By similarity). Heterodimeric channels containing KCNK1 and KCNK3 or KCNK9 have much higher activity (PubMed 23169818). Heterodimeric channels formed by KCNK1 and KCNK9 may contribute to halothane- sensitive currents (PubMed 23169818). Mediates outward rectifying potassium currents in dentate gyrus granule cells and contributes to the regulation of their resting membrane potential (By similarity). Contributes to the regulation of action potential firing in dentate gyrus granule cells and down-regulates their intrinsic excitability (By similarity). In astrocytes, the heterodimer formed by KCNK1 and KCNK2 is required for rapid glutamate release in response to activation of G-protein coupled receptors, such as F2R and CNR1 (By similarity). Required for normal ion and water transport in the kidney (By similarity). Contributes to the regulation of the resting membrane potential of pancreatic beta cells (By similarity). The low channel activity of homodimeric KCNK1 may be due to sumoylation (PubMed 15820677, PubMed 20498050, PubMed 23169818). The low channel activity may be due to rapid internalization from the cell membrane and retention in recycling endosomes (PubMed 19959478). {ECO 0000250|UniProtKB O08581, ECO 0000250|UniProtKB Q9Z2T2, ECO 0000269|PubMed 15820677, ECO 0000269|PubMed 17693262, ECO 0000269|PubMed 19959478, ECO 0000269|PubMed 20498050, ECO 0000269|PubMed 21653227, ECO 0000269|PubMed 22282804, ECO 0000269|PubMed 22431633, ECO 0000269|PubMed 23169818, ECO 0000269|PubMed 25001086, ECO 0000269|PubMed 8605869, ECO 0000269|PubMed 8978667}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IDA:UniProtKB. # GO_component GO:0008076 voltage-gated potassium channel complex; TAS:ProtInc. # GO_component GO:0016021 integral component of membrane; IDA:UniProtKB. # GO_component GO:0016023 cytoplasmic, membrane-bounded vesicle; IEA:UniProtKB-SubCell. # GO_component GO:0016324 apical plasma membrane; IEA:UniProtKB-SubCell. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0030425 dendrite; IEA:UniProtKB-SubCell. # GO_component GO:0031526 brush border membrane; IEA:Ensembl. # GO_component GO:0034705 potassium channel complex; IDA:UniProtKB. # GO_component GO:0043204 perikaryon; IEA:UniProtKB-SubCell. # GO_component GO:0045202 synapse; IEA:UniProtKB-SubCell. # GO_component GO:0055037 recycling endosome; IEA:UniProtKB-SubCell. # GO_component GO:1902937 inward rectifier potassium channel complex; IEA:Ensembl. # GO_function GO:0005242 inward rectifier potassium channel activity; TAS:ProtInc. # GO_function GO:0005267 potassium channel activity; IDA:UniProtKB. # GO_function GO:0005272 sodium channel activity; IDA:UniProtKB. # GO_function GO:0022841 potassium ion leak channel activity; IDA:UniProtKB. # GO_process GO:0006813 potassium ion transport; TAS:ProtInc. # GO_process GO:0030322 stabilization of membrane potential; IBA:GO_Central. # GO_process GO:0035094 response to nicotine; IEA:Ensembl. # GO_process GO:0035725 sodium ion transmembrane transport; IDA:UniProtKB. # GO_process GO:0060075 regulation of resting membrane potential; IMP:UniProtKB. # GO_process GO:0061337 cardiac conduction; TAS:Reactome. # GO_process GO:0071805 potassium ion transmembrane transport; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005768 endosome # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0055085 transmembrane transport # Genevisible O00180 HS # HGNC HGNC:6272 KCNK1 # IntAct O00180 2 # InterPro IPR001779 2pore_dom_K_chnl_TWIK1 # InterPro IPR003092 2pore_dom_K_chnl_TASK # InterPro IPR003280 2pore_dom_K_chnl # InterPro IPR005408 2pore_dom_K_chnl_TWIK # InterPro IPR013099 K_chnl_dom # KEGG_Brite ko04040 Ion channels # MIM 601745 gene # MISCELLANEOUS KCNK1_HUMAN When the external K(+) concentration is lowered to subphysiological levels, it takes several minutes till the channel has reached a new, stable state characterized by increased Na(+) permeability (PubMed 21653227). Likewise, when the external pH is lowered to values below 6.5, it takes several minutes till the channel has reached a new, stable state characterized by increased Na(+) permeability (PubMed 22431633). When raising the K(+) concentration back to 5 mM, it takes 40 to 70 minutes for the channel to regain its original selectivity for K(+) (PubMed 21653227). Likewise, it takes more that 25 minutes for the channel to regain its original K(+) selectivity when the pH is raised back to 7.4 (PubMed 22431633). {ECO 0000269|PubMed 21653227, ECO 0000269|PubMed 22431633}. # Organism KCNK1_HUMAN Homo sapiens (Human) # PDB 3UKM X-ray; 3.40 A; A/B/C/D=19-288 # PIR S65566 S65566 # PIRSF PIRSF038061 K_channel_subfamily_K_type # PRINTS PR01096 TWIK1CHANNEL # PRINTS PR01333 2POREKCHANEL # PRINTS PR01586 TWIKCHANNEL # PTM KCNK1_HUMAN Sumoylation is controversial. Sumoylated by UBE2I (PubMed 15820677). Not sumoylated when expressed in xenopus oocytes or mammalian cells (PubMed 17693262). Sumoylation inactivates the channel, but does not interfere with expression at the cell membrane (PubMed 15820677). Sumoylation of a single subunit is sufficient to silence the dimeric channel (PubMed 20498050, PubMed 23169818). Sumoylation of KCNK1 is sufficient to silence heterodimeric channels formed by KCNK1 and KCNK3 or KCNK9 (PubMed 23169818). Desumoylated by SENP1; this activates the channel (PubMed 15820677, PubMed 20498050, PubMed 23169818). Desumoylated by SENP1; this strongly increases halothane-mediated activation of heterodimeric channels formed with KCNK9 (PubMed 23169818). SENP1 treatment has no effect (PubMed 17693262). {ECO 0000269|PubMed 15820677, ECO 0000269|PubMed 17693262, ECO 0000269|PubMed 20498050, ECO 0000269|PubMed 23169818}. # Pfam PF07885 Ion_trans_2; 2 # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-1299308 Tandem of pore domain in a weak inwardly rectifying K+ channels (TWIK) # Reactome R-HSA-5576886 Phase 4 - resting membrane potential # RecName KCNK1_HUMAN Potassium channel subfamily K member 1 # RefSeq NP_002236 NM_002245.3 # SIMILARITY Belongs to the two pore domain potassium channel (TC 1.A.1.8) family. {ECO 0000305}. # SUBCELLULAR LOCATION KCNK1_HUMAN Cell membrane {ECO 0000269|PubMed 15820677, ECO 0000269|PubMed 17693262, ECO 0000269|PubMed 20498050, ECO 0000269|PubMed 21653227, ECO 0000269|PubMed 22282804, ECO 0000269|PubMed 22431633, ECO 0000269|PubMed 23169818, ECO 0000269|PubMed 25001086, ECO 0000269|PubMed 8605869, ECO 0000269|PubMed 8978667}; Multi-pass membrane protein {ECO 0000269|PubMed 22282804, ECO 0000269|PubMed 8978667, ECO 0000305}. Recycling endosome {ECO 0000269|PubMed 19959478}. Cell junction, synapse {ECO 0000250|UniProtKB Q9Z2T2}. Cytoplasmic vesicle {ECO 0000250|UniProtKB O08581}. Perikaryon {ECO 0000250|UniProtKB O08581}. Cell projection, dendrite {ECO 0000250|UniProtKB O08581}. Cell projection {ECO 0000250|UniProtKB O08581}. Apical cell membrane {ECO 0000269|PubMed 21964404}; Multi-pass membrane protein {ECO 0000305}. Note=The heterodimer with KCNK2 is detected at the astrocyte cell membrane. Not detected at the astrocyte cell membrane when KCNK2 is absent. Detected on neuronal cell bodies, and to a lesser degree on neuronal cell projections. Detected on hippocampus dentate gyrus granule cell bodies and to a lesser degree on proximal dendrites. Detected in synaptic membranes. Detected at the apical cell membrane in stria vascularis in the cochlea. Detected at the apical cell membrane of vestibular dark cells situated between the crista and the utricle in the inner ear. Detected at the apical cell membrane in kidney proximal tubule segment S1 and in subapical compartments in segments S1, S2 and S3. Predominantly in cytoplasmic structures in kidney distal convoluted tubules and collecting ducts (By similarity). Detected at the apical cell membrane of bronchial epithelial cells (PubMed 21964404). {ECO 0000250|UniProtKB O08581, ECO 0000250|UniProtKB Q9Z2T2, ECO 0000269|PubMed 21964404}. # SUBUNIT KCNK1_HUMAN Homodimer; disulfide-linked (PubMed 8978667, PubMed 22282804). Heterodimer with KCNK2; disulfide-linked (By similarity). In astrocytes, forms mostly heterodimeric potassium channels with KCNK2, with only a minor proportion of functional channels containing homodimeric KCNK1 (By similarity). Interacts with KCNK3 and KCNK9, forming functional heterodimeric channels (PubMed 23169818). Interacts with GNG4 (By similarity). Identified in a complex with PSD and ARF6; interacts only with PSD that is bound to ARF6 (By similarity). Interacts with UBE2I (PubMed 15820677). {ECO 0000250|UniProtKB O08581, ECO 0000269|PubMed 15820677, ECO 0000269|PubMed 22282804, ECO 0000269|PubMed 23169818, ECO 0000269|PubMed 8978667}. # TISSUE SPECIFICITY KCNK1_HUMAN Detected in bronchial epithelial cells (PubMed 21964404). Detected in heart left atrium and left ventricle (PubMed 17478540). Detected in cardiac myocytes (at protein level) (PubMed 21653227). Widely expressed with high levels in heart, brain and kidney, and lower levels in colon, ovary, placenta, lung and liver (PubMed 8605869, PubMed 9362344). Highly expressed in cerebellum, and detected at lower levels in amygdala, caudate nucleus, brain cortex, hippocampus, putamen, substantia nigra, thalamus, dorsal root ganglion, spinal cord, pituitary, heart, kidney, lung, placenta, pancreas, stomach, small intestine, uterus and prostate (PubMed 11165377). Detected in right and left heart ventricle and atrium, and in heart Purkinje fibers (PubMed 17478540). Detected in bronchial epithelial cells (PubMed 21964404). {ECO 0000269|PubMed 11165377, ECO 0000269|PubMed 17478540, ECO 0000269|PubMed 21653227, ECO 0000269|PubMed 21964404, ECO 0000269|PubMed 8605869, ECO 0000269|PubMed 9362344}. # UCSC uc010pxo human # eggNOG COG1226 LUCA # eggNOG KOG1418 Eukaryota BLAST swissprot:KCNK1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCNK1_HUMAN BioCyc ZFISH:ENSG00000135750-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000135750-MONOMER COXPRESdb 3775 http://coxpresdb.jp/data/gene/3775.shtml CleanEx HS_KCNK1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNK1 DIP DIP-59532N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-59532N DOI 10.1007/s00424-014-1631-y http://dx.doi.org/10.1007/s00424-014-1631-y DOI 10.1007/s109-1998-8100-0 http://dx.doi.org/10.1007/s109-1998-8100-0 DOI 10.1016/S0169-328X(00)00263-1 http://dx.doi.org/10.1016/S0169-328X(00)00263-1 DOI 10.1016/j.cell.2005.01.019 http://dx.doi.org/10.1016/j.cell.2005.01.019 DOI 10.1016/j.cell.2007.06.012 http://dx.doi.org/10.1016/j.cell.2007.06.012 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1038/ncomms5377 http://dx.doi.org/10.1038/ncomms5377 DOI 10.1073/pnas.1004712107 http://dx.doi.org/10.1073/pnas.1004712107 DOI 10.1073/pnas.1201132109 http://dx.doi.org/10.1073/pnas.1201132109 DOI 10.1073/pnas.1210303109 http://dx.doi.org/10.1073/pnas.1210303109 DOI 10.1074/jbc.M109.078535 http://dx.doi.org/10.1074/jbc.M109.078535 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1113/jphysiol.2006.126714 http://dx.doi.org/10.1113/jphysiol.2006.126714 DOI 10.1113/jphysiol.2014.287268 http://dx.doi.org/10.1113/jphysiol.2014.287268 DOI 10.1126/science.1213274 http://dx.doi.org/10.1126/science.1213274 DOI 10.1126/scisignal.2001726 http://dx.doi.org/10.1126/scisignal.2001726 DOI 10.1126/scisignal.2003431 http://dx.doi.org/10.1126/scisignal.2003431 DOI 10.1152/ajplung.00102.2011 http://dx.doi.org/10.1152/ajplung.00102.2011 DrugBank DB00308 http://www.drugbank.ca/drugs/DB00308 DrugBank DB00908 http://www.drugbank.ca/drugs/DB00908 DrugBank DB01346 http://www.drugbank.ca/drugs/DB01346 EMBL AL356357 http://www.ebi.ac.uk/ena/data/view/AL356357 EMBL BC018051 http://www.ebi.ac.uk/ena/data/view/BC018051 EMBL CH471098 http://www.ebi.ac.uk/ena/data/view/CH471098 EMBL U33632 http://www.ebi.ac.uk/ena/data/view/U33632 EMBL U76996 http://www.ebi.ac.uk/ena/data/view/U76996 EMBL U90065 http://www.ebi.ac.uk/ena/data/view/U90065 Ensembl ENST00000366621 http://www.ensembl.org/id/ENST00000366621 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0008076 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008076 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0016023 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016023 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0030425 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030425 GO_component GO:0031526 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031526 GO_component GO:0034705 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034705 GO_component GO:0043204 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043204 GO_component GO:0045202 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045202 GO_component GO:0055037 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055037 GO_component GO:1902937 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902937 GO_function GO:0005242 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005242 GO_function GO:0005267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005267 GO_function GO:0005272 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005272 GO_function GO:0022841 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022841 GO_process GO:0006813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006813 GO_process GO:0030322 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030322 GO_process GO:0035094 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035094 GO_process GO:0035725 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035725 GO_process GO:0060075 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060075 GO_process GO:0061337 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061337 GO_process GO:0071805 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071805 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards KCNK1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNK1 GeneID 3775 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=3775 GeneTree ENSGT00760000118858 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118858 HGNC HGNC:6272 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6272 HOGENOM HOG000286014 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000286014&db=HOGENOM6 HOVERGEN HBG052237 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052237&db=HOVERGEN HPA CAB022588 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB022588 HPA HPA016049 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA016049 InParanoid O00180 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O00180 IntAct O00180 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O00180* InterPro IPR001779 http://www.ebi.ac.uk/interpro/entry/IPR001779 InterPro IPR003092 http://www.ebi.ac.uk/interpro/entry/IPR003092 InterPro IPR003280 http://www.ebi.ac.uk/interpro/entry/IPR003280 InterPro IPR005408 http://www.ebi.ac.uk/interpro/entry/IPR005408 InterPro IPR013099 http://www.ebi.ac.uk/interpro/entry/IPR013099 Jabion 3775 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=3775 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:3775 http://www.genome.jp/dbget-bin/www_bget?hsa:3775 KEGG_Orthology KO:K04912 http://www.genome.jp/dbget-bin/www_bget?KO:K04912 MIM 601745 http://www.ncbi.nlm.nih.gov/omim/601745 OMA KQLRKMF http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=KQLRKMF OrthoDB EOG091G0DIX http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0DIX PDB 3UKM http://www.ebi.ac.uk/pdbe-srv/view/entry/3UKM PDBsum 3UKM http://www.ebi.ac.uk/pdbsum/3UKM PRINTS PR01096 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01096 PRINTS PR01333 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01333 PRINTS PR01586 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01586 PSORT swissprot:KCNK1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCNK1_HUMAN PSORT-B swissprot:KCNK1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCNK1_HUMAN PSORT2 swissprot:KCNK1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCNK1_HUMAN Pfam PF07885 http://pfam.xfam.org/family/PF07885 PharmGKB PA219 http://www.pharmgkb.org/do/serve?objId=PA219&objCls=Gene Phobius swissprot:KCNK1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCNK1_HUMAN PhylomeDB O00180 http://phylomedb.org/?seqid=O00180 ProteinModelPortal O00180 http://www.proteinmodelportal.org/query/uniprot/O00180 PubMed 11165377 http://www.ncbi.nlm.nih.gov/pubmed/11165377 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15820677 http://www.ncbi.nlm.nih.gov/pubmed/15820677 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 17478540 http://www.ncbi.nlm.nih.gov/pubmed/17478540 PubMed 17693262 http://www.ncbi.nlm.nih.gov/pubmed/17693262 PubMed 19959478 http://www.ncbi.nlm.nih.gov/pubmed/19959478 PubMed 20498050 http://www.ncbi.nlm.nih.gov/pubmed/20498050 PubMed 21653227 http://www.ncbi.nlm.nih.gov/pubmed/21653227 PubMed 21964404 http://www.ncbi.nlm.nih.gov/pubmed/21964404 PubMed 22282804 http://www.ncbi.nlm.nih.gov/pubmed/22282804 PubMed 22431633 http://www.ncbi.nlm.nih.gov/pubmed/22431633 PubMed 22814378 http://www.ncbi.nlm.nih.gov/pubmed/22814378 PubMed 23169818 http://www.ncbi.nlm.nih.gov/pubmed/23169818 PubMed 25001086 http://www.ncbi.nlm.nih.gov/pubmed/25001086 PubMed 25339226 http://www.ncbi.nlm.nih.gov/pubmed/25339226 PubMed 25530075 http://www.ncbi.nlm.nih.gov/pubmed/25530075 PubMed 8605869 http://www.ncbi.nlm.nih.gov/pubmed/8605869 PubMed 8978667 http://www.ncbi.nlm.nih.gov/pubmed/8978667 PubMed 9362344 http://www.ncbi.nlm.nih.gov/pubmed/9362344 PubMed 9462864 http://www.ncbi.nlm.nih.gov/pubmed/9462864 Reactome R-HSA-1299308 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1299308 Reactome R-HSA-5576886 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576886 RefSeq NP_002236 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_002236 SMR O00180 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=O00180 STRING 9606.ENSP00000355580 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000355580&targetmode=cogs UCSC uc010pxo http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc010pxo&org=rat UniGene Hs.208544 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.208544 UniProtKB KCNK1_HUMAN http://www.uniprot.org/uniprot/KCNK1_HUMAN UniProtKB-AC O00180 http://www.uniprot.org/uniprot/O00180 charge swissprot:KCNK1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCNK1_HUMAN eggNOG COG1226 http://eggnogapi.embl.de/nog_data/html/tree/COG1226 eggNOG KOG1418 http://eggnogapi.embl.de/nog_data/html/tree/KOG1418 epestfind swissprot:KCNK1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCNK1_HUMAN garnier swissprot:KCNK1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCNK1_HUMAN helixturnhelix swissprot:KCNK1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCNK1_HUMAN hmoment swissprot:KCNK1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCNK1_HUMAN iep swissprot:KCNK1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCNK1_HUMAN inforesidue swissprot:KCNK1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCNK1_HUMAN neXtProt NX_O00180 http://www.nextprot.org/db/entry/NX_O00180 octanol swissprot:KCNK1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCNK1_HUMAN pepcoil swissprot:KCNK1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCNK1_HUMAN pepdigest swissprot:KCNK1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCNK1_HUMAN pepinfo swissprot:KCNK1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCNK1_HUMAN pepnet swissprot:KCNK1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCNK1_HUMAN pepstats swissprot:KCNK1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCNK1_HUMAN pepwheel swissprot:KCNK1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCNK1_HUMAN pepwindow swissprot:KCNK1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCNK1_HUMAN sigcleave swissprot:KCNK1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCNK1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS KCNKH_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96T54-3; Sequence=Displayed; Name=2; IsoId=Q96T54-4; Sequence=VSP_047354; Note=No experimental confirmation available. Gene prediction based on EST data.; # AltName KCNKH_HUMAN 2P domain potassium channel Talk-2 # AltName KCNKH_HUMAN Acid-sensitive potassium channel protein TASK-4 # AltName KCNKH_HUMAN TWIK-related acid-sensitive K(+) channel 4 # AltName KCNKH_HUMAN TWIK-related alkaline pH-activated K(+) channel 2 # CCDS CCDS47419 -. [Q96T54-4] # CCDS CCDS4842 -. [Q96T54-3] # Ensembl ENST00000373231 ENSP00000362328; ENSG00000124780. [Q96T54-3] # Ensembl ENST00000453413 ENSP00000401271; ENSG00000124780. [Q96T54-4] # FUNCTION KCNKH_HUMAN Outward rectifying potassium channel. Produces rapidly activating and non-inactivating outward rectifier K(+) currents. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_function GO:0005244 voltage-gated ion channel activity; IEA:UniProtKB-KW. # GO_function GO:0005267 potassium channel activity; IDA:UniProtKB. # GO_function GO:0022841 potassium ion leak channel activity; IBA:GO_Central. # GO_process GO:0006813 potassium ion transport; IDA:UniProtKB. # GO_process GO:0030322 stabilization of membrane potential; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # Genevisible Q96T54 HS # HGNC HGNC:14465 KCNK17 # InterPro IPR003092 2pore_dom_K_chnl_TASK # InterPro IPR003280 2pore_dom_K_chnl # InterPro IPR013099 K_chnl_dom # KEGG_Brite ko04040 Ion channels # MIM 607370 gene # MISCELLANEOUS KCNKH_HUMAN Inhibited by Ba(2+), quinidine, chloroform and halothane. Activated at alkaline pH. Activated by quinine and isoflurane. # Organism KCNKH_HUMAN Homo sapiens (Human) # PIRSF PIRSF038061 K_channel_subfamily_K_type # PRINTS PR01095 TASKCHANNEL # PRINTS PR01333 2POREKCHANEL # Pfam PF07885 Ion_trans_2; 2 # Proteomes UP000005640 Chromosome 6 # Reactome R-HSA-1299361 TWIK-related alkaline pH activated K+ channel (TALK) # Reactome R-HSA-5576886 Phase 4 - resting membrane potential # RecName KCNKH_HUMAN Potassium channel subfamily K member 17 # RefSeq NP_001128583 NM_001135111.1. [Q96T54-4] # RefSeq NP_113648 NM_031460.3. [Q96T54-3] # SEQUENCE CAUTION Sequence=AAK28551.1; Type=Frameshift; Positions=260; Evidence={ECO 0000305}; # SIMILARITY Belongs to the two pore domain potassium channel (TC 1.A.1.8) family. {ECO 0000305}. # SUBCELLULAR LOCATION KCNKH_HUMAN Membrane; Multi-pass membrane protein. # SUBUNIT Homodimer. {ECO 0000305}. # TCDB 1.A.1.9 the voltage-gated ion channel (vic) superfamily # UCSC uc003ooo human. [Q96T54-3] # eggNOG COG1226 LUCA # eggNOG KOG1418 Eukaryota BLAST swissprot:KCNKH_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCNKH_HUMAN BioCyc ZFISH:ENSG00000124780-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000124780-MONOMER COXPRESdb 89822 http://coxpresdb.jp/data/gene/89822.shtml CleanEx HS_KCNK17 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNK17 DOI 10.1006/bbrc.2001.4562 http://dx.doi.org/10.1006/bbrc.2001.4562 DOI 10.1016/S0014-5793(01)02222-0 http://dx.doi.org/10.1016/S0014-5793(01)02222-0 DOI 10.1038/nature02055 http://dx.doi.org/10.1038/nature02055 DOI 10.1101/gr.1293003 http://dx.doi.org/10.1101/gr.1293003 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AF339912 http://www.ebi.ac.uk/ena/data/view/AF339912 EMBL AF358910 http://www.ebi.ac.uk/ena/data/view/AF358910 EMBL AL136087 http://www.ebi.ac.uk/ena/data/view/AL136087 EMBL AY358853 http://www.ebi.ac.uk/ena/data/view/AY358853 EMBL BC025726 http://www.ebi.ac.uk/ena/data/view/BC025726 Ensembl ENST00000373231 http://www.ensembl.org/id/ENST00000373231 Ensembl ENST00000453413 http://www.ensembl.org/id/ENST00000453413 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0005244 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005244 GO_function GO:0005267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005267 GO_function GO:0022841 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022841 GO_process GO:0006813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006813 GO_process GO:0030322 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030322 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GeneCards KCNK17 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNK17 GeneID 89822 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=89822 GeneTree ENSGT00760000118858 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118858 HGNC HGNC:14465 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:14465 HOGENOM HOG000074161 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000074161&db=HOGENOM6 HOVERGEN HBG052240 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052240&db=HOVERGEN HPA HPA043892 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA043892 InParanoid Q96T54 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q96T54 InterPro IPR003092 http://www.ebi.ac.uk/interpro/entry/IPR003092 InterPro IPR003280 http://www.ebi.ac.uk/interpro/entry/IPR003280 InterPro IPR013099 http://www.ebi.ac.uk/interpro/entry/IPR013099 Jabion 89822 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=89822 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:89822 http://www.genome.jp/dbget-bin/www_bget?hsa:89822 KEGG_Orthology KO:K04925 http://www.genome.jp/dbget-bin/www_bget?KO:K04925 MIM 607370 http://www.ncbi.nlm.nih.gov/omim/607370 OMA SMGRWEF http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=SMGRWEF OrthoDB EOG091G08DF http://cegg.unige.ch/orthodb/results?searchtext=EOG091G08DF PRINTS PR01095 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01095 PRINTS PR01333 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01333 PSORT swissprot:KCNKH_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCNKH_HUMAN PSORT-B swissprot:KCNKH_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCNKH_HUMAN PSORT2 swissprot:KCNKH_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCNKH_HUMAN Pfam PF07885 http://pfam.xfam.org/family/PF07885 PharmGKB PA30058 http://www.pharmgkb.org/do/serve?objId=PA30058&objCls=Gene Phobius swissprot:KCNKH_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCNKH_HUMAN PhylomeDB Q96T54 http://phylomedb.org/?seqid=Q96T54 ProteinModelPortal Q96T54 http://www.proteinmodelportal.org/query/uniprot/Q96T54 PubMed 11248242 http://www.ncbi.nlm.nih.gov/pubmed/11248242 PubMed 11263999 http://www.ncbi.nlm.nih.gov/pubmed/11263999 PubMed 12975309 http://www.ncbi.nlm.nih.gov/pubmed/12975309 PubMed 14574404 http://www.ncbi.nlm.nih.gov/pubmed/14574404 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 Reactome R-HSA-1299361 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1299361 Reactome R-HSA-5576886 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576886 RefSeq NP_001128583 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001128583 RefSeq NP_113648 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_113648 SMR Q96T54 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q96T54 STRING 9606.ENSP00000362328 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000362328&targetmode=cogs TCDB 1.A.1.9 http://www.tcdb.org/search/result.php?tc=1.A.1.9 UCSC uc003ooo http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003ooo&org=rat UniGene Hs.162282 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.162282 UniProtKB KCNKH_HUMAN http://www.uniprot.org/uniprot/KCNKH_HUMAN UniProtKB-AC Q96T54 http://www.uniprot.org/uniprot/Q96T54 charge swissprot:KCNKH_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCNKH_HUMAN eggNOG COG1226 http://eggnogapi.embl.de/nog_data/html/tree/COG1226 eggNOG KOG1418 http://eggnogapi.embl.de/nog_data/html/tree/KOG1418 epestfind swissprot:KCNKH_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCNKH_HUMAN garnier swissprot:KCNKH_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCNKH_HUMAN helixturnhelix swissprot:KCNKH_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCNKH_HUMAN hmoment swissprot:KCNKH_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCNKH_HUMAN iep swissprot:KCNKH_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCNKH_HUMAN inforesidue swissprot:KCNKH_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCNKH_HUMAN neXtProt NX_Q96T54 http://www.nextprot.org/db/entry/NX_Q96T54 octanol swissprot:KCNKH_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCNKH_HUMAN pepcoil swissprot:KCNKH_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCNKH_HUMAN pepdigest swissprot:KCNKH_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCNKH_HUMAN pepinfo swissprot:KCNKH_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCNKH_HUMAN pepnet swissprot:KCNKH_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCNKH_HUMAN pepstats swissprot:KCNKH_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCNKH_HUMAN pepwheel swissprot:KCNKH_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCNKH_HUMAN pepwindow swissprot:KCNKH_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCNKH_HUMAN sigcleave swissprot:KCNKH_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCNKH_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS TRPV4_HUMAN Event=Alternative splicing; Named isoforms=6; Name=1; Synonyms=A; IsoId=Q9HBA0-1; Sequence=Displayed; Name=2; Synonyms=B, OTRPC4beta; IsoId=Q9HBA0-2; Sequence=VSP_013436; Name=3; Synonyms=TRPV-SV; IsoId=Q9HBA0-3; Sequence=VSP_013437; Name=4; Synonyms=C; IsoId=Q9HBA0-4; Sequence=VSP_026615; Name=5; Synonyms=D; IsoId=Q9HBA0-5; Sequence=VSP_026614; Name=6; Synonyms=E; IsoId=Q9HBA0-6; Sequence=VSP_026615, VSP_013436; # AltName TRPV4_HUMAN Osm-9-like TRP channel 4 # AltName TRPV4_HUMAN Transient receptor potential protein 12 # AltName TRPV4_HUMAN Vanilloid receptor-like channel 2 # AltName TRPV4_HUMAN Vanilloid receptor-like protein 2 # AltName TRPV4_HUMAN Vanilloid receptor-related osmotically-activated channel # BioGrid 121883 11 # CCDS CCDS53827 -. [Q9HBA0-6] # CCDS CCDS53828 -. [Q9HBA0-4] # CCDS CCDS53829 -. [Q9HBA0-5] # CCDS CCDS9134 -. [Q9HBA0-1] # CCDS CCDS9135 -. [Q9HBA0-2] # DISEASE TRPV4_HUMAN Brachyolmia 3 (BCYM3) [MIM 113500] A form of brachyolmia, a clinically and genetically heterogeneous skeletal dysplasia primarily affecting the spine and characterized by a short trunk, short stature, and platyspondyly. BCYM3 is an autosomal dominant form with severe scoliosis with or without kyphosis, and flattened irregular cervical vertebrae. {ECO 0000269|PubMed 18587396}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE TRPV4_HUMAN Charcot-Marie-Tooth disease 2C (CMT2C) [MIM 606071] An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced. {ECO 0000269|PubMed 20037586, ECO 0000269|PubMed 20037587, ECO 0000269|PubMed 20037588, ECO 0000269|PubMed 21115951, ECO 0000269|PubMed 21288981}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE TRPV4_HUMAN Digital arthropathy-brachydactyly, familial (FDAB) [MIM 606835] A disorder characterized by irregularities in the proximal articular surfaces of the distal interphalangeal joints of the hand. Individuals appear normal at birth, with no clinical or radiographic evidence of a developmental skeletal dysplasia. The earliest changes appear during the first decade of life. By adulthood, all interphalangeal, metacarpophalangeal, and metatarsophalangeal joints are affected by a deforming, painful osteoarthritis. The remainder of the skeleton is clinically and radiographically unaffected. {ECO 0000269|PubMed 21964574}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE TRPV4_HUMAN Metatropic dysplasia (MTD) [MIM 156530] A severe spondyloepimetaphyseal dysplasia characterized by short limbs with limitation and enlargement of joints and usually severe kyphoscoliosis. Radiologic features include severe platyspondyly, severe metaphyseal enlargement and shortening of long bones. {ECO 0000269|PubMed 19232556, ECO 0000269|PubMed 20425821, ECO 0000269|PubMed 20577006, ECO 0000269|Ref.6}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE TRPV4_HUMAN Neuronopathy, distal hereditary motor, 8 (HMN8) [MIM 600175] A clinically variable, neuromuscular disorder characterized by congenital lower motor neuron disorder restricted to the lower part of the body. Clinical manifestations include non-progressive muscular atrophy, thigh muscle atrophy, weak thigh adductors, weak knee and foot extensors, minimal jaw muscle and neck flexor weakness, flexion contractures of knees and pes equinovarus. Tendon reflexes are normal. {ECO 0000269|PubMed 20037588, ECO 0000269|PubMed 22526352}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE TRPV4_HUMAN Parastremmatic dwarfism (PSTD) [MIM 168400] A bone dysplasia characterized by severe dwarfism, kyphoscoliosis, distortion and bowing of the extremities, and contractures of the large joints. Radiographically, the disease is characterized by a combination of decreased bone density, bowing of the long bones, platyspondyly and striking irregularities of endochondral ossification with areas of calcific stippling and streaking in radiolucent epiphyses, metaphyses and apophyses. {ECO 0000269|PubMed 20503319}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE TRPV4_HUMAN Scapuloperoneal spinal muscular atrophy (SPSMA) [MIM 181405] A clinically variable neuromuscular disorder characterized by neurogenic scapuloperoneal amyotrophy, laryngeal palsy, congenital absence of muscles, progressive scapuloperoneal atrophy and progressive distal weakness and amyotrophy. {ECO 0000269|PubMed 20037587}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE TRPV4_HUMAN Spondyloepiphyseal dysplasia Maroteaux type (SEDM) [MIM 184095] A clinically variable spondyloepiphyseal dysplasia with manifestations limited to the musculoskeletal system. Clinical features include short stature, brachydactyly, platyspondyly, short and stubby hands and feet, epiphyseal hypoplasia of the large joints, and iliac hypoplasia. Intelligence is normal. {ECO 0000269|PubMed 20503319}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE TRPV4_HUMAN Spondylometaphyseal dysplasia Kozlowski type (SMDK) [MIM 184252] A form of spondylometaphyseal dysplasia, a group of short stature disorders distinguished by abnormalities in the vertebrae and the metaphyses of the tubular bones. It is characterized by postnatal dwarfism, significant scoliosis and mild metaphyseal abnormalities in the pelvis. The vertebrae exhibit platyspondyly and overfaced pedicles. {ECO 0000269|PubMed 19232556, ECO 0000269|PubMed 20577006}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000261740 ENSP00000261740; ENSG00000111199. [Q9HBA0-1] # Ensembl ENST00000418703 ENSP00000406191; ENSG00000111199. [Q9HBA0-1] # Ensembl ENST00000536838 ENSP00000444336; ENSG00000111199. [Q9HBA0-5] # Ensembl ENST00000537083 ENSP00000442738; ENSG00000111199. [Q9HBA0-2] # Ensembl ENST00000541794 ENSP00000442167; ENSG00000111199. [Q9HBA0-4] # Ensembl ENST00000544971 ENSP00000443611; ENSG00000111199. [Q9HBA0-6] # ExpressionAtlas Q9HBA0 baseline and differential # FUNCTION TRPV4_HUMAN Non-selective calcium permeant cation channel involved in osmotic sensitivity and mechanosensitivity. Activation by exposure to hypotonicity within the physiological range exhibits an outward rectification (PubMed 18826956, PubMed 18695040). Also activated by heat, low pH, citrate and phorbol esters (PubMed 18826956, PubMed 18695040). Increase of intracellular Ca(2+) potentiates currents. Channel activity seems to be regulated by a calmodulin-dependent mechanism with a negative feedback mechanism (PubMed 12724311, PubMed 18826956). Promotes cell-cell junction formation in skin keratinocytes and plays an important role in the formation and/or maintenance of functional intercellular barriers (By similarity). Acts as a regulator of intracellular Ca(2+) in synoviocytes (PubMed 19759329). Plays an obligatory role as a molecular component in the nonselective cation channel activation induced by 4-alpha-phorbol 12,13- didecanoate and hypotonic stimulation in synoviocytes and also regulates production of IL-8 (PubMed 19759329). Together with PKD2, forms mechano- and thermosensitive channels in cilium (PubMed 18695040). Negatively regulates expression of PPARGC1A, UCP1, oxidative metabolism and respiration in adipocytes (By similarity). Regulates expression of chemokines and cytokines related to proinflammatory pathway in adipocytes (By similarity). Together with AQP5, controls regulatory volume decrease in salivary epithelial cells (By similarity). {ECO 0000250|UniProtKB Q9EPK8, ECO 0000269|PubMed 11025659, ECO 0000269|PubMed 12724311, ECO 0000269|PubMed 18695040, ECO 0000269|PubMed 18826956, ECO 0000269|PubMed 19759329}. # GO_component GO:0005881 cytoplasmic microtubule; IEA:Ensembl. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0005912 adherens junction; ISS:UniProtKB. # GO_component GO:0005925 focal adhesion; ISS:BHF-UCL. # GO_component GO:0005929 cilium; IBA:GO_Central. # GO_component GO:0009986 cell surface; IEA:Ensembl. # GO_component GO:0016021 integral component of membrane; NAS:UniProtKB. # GO_component GO:0016324 apical plasma membrane; IEA:UniProtKB-SubCell. # GO_component GO:0030027 lamellipodium; ISS:BHF-UCL. # GO_component GO:0030175 filopodium; ISS:BHF-UCL. # GO_component GO:0030426 growth cone; ISS:BHF-UCL. # GO_component GO:0030864 cortical actin cytoskeleton; ISS:BHF-UCL. # GO_component GO:0031410 cytoplasmic vesicle; IEA:Ensembl. # GO_component GO:0032587 ruffle membrane; ISS:BHF-UCL. # GO_function GO:0003779 actin binding; ISS:BHF-UCL. # GO_function GO:0005034 osmosensor activity; IEA:Ensembl. # GO_function GO:0005080 protein kinase C binding; ISS:BHF-UCL. # GO_function GO:0005261 cation channel activity; IDA:UniProtKB. # GO_function GO:0005262 calcium channel activity; IDA:UniProtKB. # GO_function GO:0005516 calmodulin binding; IMP:UniProtKB. # GO_function GO:0005524 ATP binding; IEA:UniProtKB-KW. # GO_function GO:0008017 microtubule binding; ISS:BHF-UCL. # GO_function GO:0015275 stretch-activated, cation-selective, calcium channel activity; IMP:UniProtKB. # GO_function GO:0019901 protein kinase binding; IPI:BHF-UCL. # GO_function GO:0042169 SH2 domain binding; ISS:BHF-UCL. # GO_function GO:0043014 alpha-tubulin binding; ISS:BHF-UCL. # GO_function GO:0048487 beta-tubulin binding; ISS:BHF-UCL. # GO_function GO:0051015 actin filament binding; ISS:BHF-UCL. # GO_process GO:0000122 negative regulation of transcription from RNA polymerase II promoter; IEA:Ensembl. # GO_process GO:0002024 diet induced thermogenesis; IEA:Ensembl. # GO_process GO:0006816 calcium ion transport; IDA:UniProtKB. # GO_process GO:0006874 cellular calcium ion homeostasis; IDA:UniProtKB. # GO_process GO:0006884 cell volume homeostasis; TAS:UniProtKB. # GO_process GO:0007015 actin filament organization; ISS:BHF-UCL. # GO_process GO:0007043 cell-cell junction assembly; ISS:UniProtKB. # GO_process GO:0007204 positive regulation of cytosolic calcium ion concentration; IDA:UniProtKB. # GO_process GO:0007231 osmosensory signaling pathway; TAS:UniProtKB. # GO_process GO:0009612 response to mechanical stimulus; TAS:UniProtKB. # GO_process GO:0010628 positive regulation of gene expression; IEA:Ensembl. # GO_process GO:0010759 positive regulation of macrophage chemotaxis; IEA:Ensembl. # GO_process GO:0010977 negative regulation of neuron projection development; ISS:BHF-UCL. # GO_process GO:0030103 vasopressin secretion; IEA:Ensembl. # GO_process GO:0031117 positive regulation of microtubule depolymerization; ISS:BHF-UCL. # GO_process GO:0031532 actin cytoskeleton reorganization; ISS:BHF-UCL. # GO_process GO:0032868 response to insulin; IEA:Ensembl. # GO_process GO:0034605 cellular response to heat; ISS:UniProtKB. # GO_process GO:0042538 hyperosmotic salinity response; IEA:Ensembl. # GO_process GO:0042593 glucose homeostasis; IEA:Ensembl. # GO_process GO:0043117 positive regulation of vascular permeability; IMP:UniProtKB. # GO_process GO:0043622 cortical microtubule organization; ISS:BHF-UCL. # GO_process GO:0046330 positive regulation of JNK cascade; IEA:Ensembl. # GO_process GO:0046785 microtubule polymerization; ISS:BHF-UCL. # GO_process GO:0047484 regulation of response to osmotic stress; IEA:Ensembl. # GO_process GO:0050729 positive regulation of inflammatory response; IEA:Ensembl. # GO_process GO:0050891 multicellular organismal water homeostasis; IMP:UniProtKB. # GO_process GO:0070374 positive regulation of ERK1 and ERK2 cascade; IEA:Ensembl. # GO_process GO:0070509 calcium ion import; ISS:BHF-UCL. # GO_process GO:0070588 calcium ion transmembrane transport; IMP:UniProtKB. # GO_process GO:0071470 cellular response to osmotic stress; ISS:UniProtKB. # GO_process GO:0071476 cellular hypotonic response; IMP:UniProtKB. # GO_process GO:0071477 cellular hypotonic salinity response; IEA:Ensembl. # GO_process GO:0071639 positive regulation of monocyte chemotactic protein-1 production; IEA:Ensembl. # GO_process GO:0071642 positive regulation of macrophage inflammatory protein 1 alpha production; IEA:Ensembl. # GO_process GO:0071651 positive regulation of chemokine (C-C motif) ligand 5 production; IEA:Ensembl. # GO_process GO:0097497 blood vessel endothelial cell delamination; IMP:UniProtKB. # GO_process GO:1903444 negative regulation of brown fat cell differentiation; IEA:Ensembl. # GO_process GO:1903759 signal transduction involved in regulation of aerobic respiration; IEA:Ensembl. # GO_process GO:2000340 positive regulation of chemokine (C-X-C motif) ligand 1 production; IEA:Ensembl. # GO_process GO:2000507 positive regulation of energy homeostasis; IEA:Ensembl. # GO_process GO:2000778 positive regulation of interleukin-6 secretion; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005856 cytoskeleton # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0005929 cilium # GOslim_component GO:0031410 cytoplasmic vesicle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0008092 cytoskeletal protein binding # GOslim_function GO:0019899 enzyme binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0003013 circulatory system process # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007010 cytoskeleton organization # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0022607 cellular component assembly # GOslim_process GO:0034330 cell junction organization # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.25.40.20 -; 1. # Genevisible Q9HBA0 HS # HGNC HGNC:18083 TRPV4 # IntAct Q9HBA0 6 # InterPro IPR002110 Ankyrin_rpt # InterPro IPR004729 TRP_channel # InterPro IPR005821 Ion_trans_dom # InterPro IPR008347 TRPV1-4_channel # InterPro IPR008348 TRPV4_channel # InterPro IPR020683 Ankyrin_rpt-contain_dom # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00455 [Neurodegenerative disease] SMA proximal adult autosomal dominant (SMAPAD) # KEGG_Disease H00522 [Skeletal dysplasia] Parastremmatic dysplasia # KEGG_Disease H00524 [Nervous system disease] Hereditary motor and sensory neuropathy type IIC (HMSN IIC) # KEGG_Disease H00856 [Nervous system disease] Distal hereditary motor neuropathies (dHMN) # MIM 113500 phenotype # MIM 156530 phenotype # MIM 168400 phenotype # MIM 181405 phenotype # MIM 184095 phenotype # MIM 184252 phenotype # MIM 600175 phenotype # MIM 605427 gene # MIM 606071 phenotype # MIM 606835 phenotype # MIM 613508 phenotype # Organism TRPV4_HUMAN Homo sapiens (Human) # Orphanet 1216 Autosomal dominant congenital benign spinal muscular atrophy # Orphanet 263482 Spondyloepiphyseal dysplasia, Maroteaux type # Orphanet 2635 Metatropic dysplasia # Orphanet 2646 Parastremmatic dwarfism # Orphanet 85169 Familial digital arthropathy-brachydactyly # Orphanet 93304 Autosomal dominant brachyolmia # Orphanet 93314 Spondylometaphyseal dysplasia, Kozlowski type # Orphanet 99937 Autosomal dominant Charcot-Marie-Tooth disease type 2C # PANTHER PTHR10582:SF4 PTHR10582:SF4; 2 # PDB 4DX1 X-ray; 2.85 A; A/B=149-397 # PDB 4DX2 X-ray; 2.95 A; A/B=149-397 # POLYMORPHISM Genetic variations in TRPV4 determine the sodium serum level quantitative trait locus 1 (SSQTL1) [MIM 613508]. In some populations, variant Pro19Ser has been shown to be significantly associated with hyponatremia defined as serum sodium concentration below or equal to 135 mEq/L. # PRINTS PR01768 TRPVRECEPTOR # PRINTS PR01769 VRL2RECEPTOR # PROSITE PS50088 ANK_REPEAT # PROSITE PS50297 ANK_REP_REGION # Pfam PF00023 Ank # Pfam PF00520 Ion_trans # Proteomes UP000005640 Chromosome 12 # Reactome R-HSA-3295583 TRP channels # RecName TRPV4_HUMAN Transient receptor potential cation channel subfamily V member 4 # RefSeq NP_001170899 NM_001177428.1. [Q9HBA0-4] # RefSeq NP_001170902 NM_001177431.1. [Q9HBA0-5] # RefSeq NP_001170904 NM_001177433.1. [Q9HBA0-6] # RefSeq NP_067638 NM_021625.4. [Q9HBA0-1] # RefSeq NP_671737 NM_147204.2. [Q9HBA0-2] # RefSeq XP_005253975 XM_005253918.1. [Q9HBA0-1] # RefSeq XP_016875263 XM_017019774.1. [Q9HBA0-1] # SIMILARITY Belongs to the transient receptor (TC 1.A.4) family. TrpV subfamily. TRPV4 sub-subfamily. {ECO 0000305}. # SIMILARITY Contains 3 ANK repeats. {ECO:0000255|PROSITE- ProRule PRU00023}. # SMART SM00248 ANK; 3 # SUBCELLULAR LOCATION TRPV4_HUMAN Apical cell membrane {ECO 0000269|PubMed 18695040, ECO 0000269|PubMed 18826956}; Multi- pass membrane protein. Cell junction, adherens junction {ECO 0000250|UniProtKB Q9EPK8}. Cell projection, cilium {ECO 0000269|PubMed 18695040}. Note=Assembly of the putative homotetramer occurs primarily in the endoplasmic reticulum. {ECO 0000269|PubMed 16293632, ECO 0000269|PubMed 20037587, ECO 0000269|PubMed 20037588}. # SUBCELLULAR LOCATION TRPV4_HUMAN Isoform 1 Cell membrane. # SUBCELLULAR LOCATION TRPV4_HUMAN Isoform 5 Cell membrane. # SUBUNIT TRPV4_HUMAN Homotetramer (Probable). Self-associates in a isoform- specific manner (PubMed 16293632). Isoforms 1/A and 5/D but not isoform 2/B, 4/C and 6/E can oligomerize (PubMed 16293632). Interacts with calmodulin (PubMed 12724311). Interacts with Map7 and Src family Tyr protein kinases LYN, SRC, FYN, HCK, LCK and YES (By similarity). Interacts with CTNNB1 (By similarity). The TRPV4 and CTNNB1 complex can interact with CDH1 (By similarity). Interacts with PACSIN1, PACSIN2 and PACSIN3 (via SH3 domain) (By similarity). Part of a complex containing MLC1, AQP4, HEPACAM and ATP1B1 (PubMed 22328087). Interacts with ITPR3 (PubMed 18826956). Interacts with AQP5; the interaction is probably indirect and regulates TRPV4 activation by hypotonicity (By similarity). Interacts with ANO1 (By similarity). Interacts (via C-terminus) with PKD2 (via C-terminus) (PubMed 18695040). {ECO 0000250|UniProtKB Q9EPK8, ECO 0000269|PubMed 12724311, ECO 0000269|PubMed 16293632, ECO 0000269|PubMed 18695040, ECO 0000269|PubMed 18826956, ECO 0000269|PubMed 22328087, ECO 0000269|PubMed 22702953, ECO 0000305}. # SUPFAM SSF48403 SSF48403 # TIGRFAMs TIGR00870 trp # TISSUE SPECIFICITY Found in the synoviocytes from patients with (RA) and without (CTR) rheumatoid arthritis (at protein level). {ECO:0000269|PubMed 19759329}. # UCSC uc001tpg human. [Q9HBA0-1] # eggNOG ENOG4110DG4 LUCA # eggNOG KOG3676 Eukaryota BLAST swissprot:TRPV4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:TRPV4_HUMAN COXPRESdb 59341 http://coxpresdb.jp/data/gene/59341.shtml DIP DIP-35702N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-35702N DOI 10.1002/ajmg.a.33392 http://dx.doi.org/10.1002/ajmg.a.33392 DOI 10.1002/ajmg.a.33414 http://dx.doi.org/10.1002/ajmg.a.33414 DOI 10.1007/s10048-012-0328-7 http://dx.doi.org/10.1007/s10048-012-0328-7 DOI 10.1016/S0092-8674(00)00143-4 http://dx.doi.org/10.1016/S0092-8674(00)00143-4 DOI 10.1016/j.ajhg.2009.01.021 http://dx.doi.org/10.1016/j.ajhg.2009.01.021 DOI 10.1021/bi300279b http://dx.doi.org/10.1021/bi300279b DOI 10.1038/35036318 http://dx.doi.org/10.1038/35036318 DOI 10.1038/ng.166 http://dx.doi.org/10.1038/ng.166 DOI 10.1038/ng.508 http://dx.doi.org/10.1038/ng.508 DOI 10.1038/ng.509 http://dx.doi.org/10.1038/ng.509 DOI 10.1038/ng.512 http://dx.doi.org/10.1038/ng.512 DOI 10.1038/ng.945 http://dx.doi.org/10.1038/ng.945 DOI 10.1073/pnas.0904084106 http://dx.doi.org/10.1073/pnas.0904084106 DOI 10.1074/jbc.C800184200 http://dx.doi.org/10.1074/jbc.C800184200 DOI 10.1074/jbc.M302561200 http://dx.doi.org/10.1074/jbc.M302561200 DOI 10.1074/jbc.M302590200 http://dx.doi.org/10.1074/jbc.M302590200 DOI 10.1074/jbc.M511456200 http://dx.doi.org/10.1074/jbc.M511456200 DOI 10.1083/jcb.200805124 http://dx.doi.org/10.1083/jcb.200805124 DOI 10.1093/hmg/dds032 http://dx.doi.org/10.1093/hmg/dds032 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1136/jmg.2009.075358 http://dx.doi.org/10.1136/jmg.2009.075358 DOI 10.1152/ajpcell.00204.2009 http://dx.doi.org/10.1152/ajpcell.00204.2009 DOI 10.1212/WNL.0b013e3181ffe4bb http://dx.doi.org/10.1212/WNL.0b013e3181ffe4bb DOI 10.1212/WNL.0b013e31820f2de3 http://dx.doi.org/10.1212/WNL.0b013e31820f2de3 EMBL AB032427 http://www.ebi.ac.uk/ena/data/view/AB032427 EMBL AB073669 http://www.ebi.ac.uk/ena/data/view/AB073669 EMBL AB100308 http://www.ebi.ac.uk/ena/data/view/AB100308 EMBL AF258465 http://www.ebi.ac.uk/ena/data/view/AF258465 EMBL AF263523 http://www.ebi.ac.uk/ena/data/view/AF263523 EMBL AF279673 http://www.ebi.ac.uk/ena/data/view/AF279673 EMBL AJ296305 http://www.ebi.ac.uk/ena/data/view/AJ296305 EMBL BC117426 http://www.ebi.ac.uk/ena/data/view/BC117426 EMBL BC143315 http://www.ebi.ac.uk/ena/data/view/BC143315 EMBL CH471054 http://www.ebi.ac.uk/ena/data/view/CH471054 EMBL DQ059644 http://www.ebi.ac.uk/ena/data/view/DQ059644 EMBL DQ059645 http://www.ebi.ac.uk/ena/data/view/DQ059645 EMBL DQ059646 http://www.ebi.ac.uk/ena/data/view/DQ059646 Ensembl ENST00000261740 http://www.ensembl.org/id/ENST00000261740 Ensembl ENST00000418703 http://www.ensembl.org/id/ENST00000418703 Ensembl ENST00000536838 http://www.ensembl.org/id/ENST00000536838 Ensembl ENST00000537083 http://www.ensembl.org/id/ENST00000537083 Ensembl ENST00000541794 http://www.ensembl.org/id/ENST00000541794 Ensembl ENST00000544971 http://www.ensembl.org/id/ENST00000544971 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005881 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005881 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0005912 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005912 GO_component GO:0005925 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005925 GO_component GO:0005929 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005929 GO_component GO:0009986 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009986 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:0030027 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030027 GO_component GO:0030175 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030175 GO_component GO:0030426 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030426 GO_component GO:0030864 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030864 GO_component GO:0031410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410 GO_component GO:0032587 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032587 GO_function GO:0003779 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003779 GO_function GO:0005034 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005034 GO_function GO:0005080 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005080 GO_function GO:0005261 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005261 GO_function GO:0005262 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005262 GO_function GO:0005516 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005516 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0008017 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008017 GO_function GO:0015275 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015275 GO_function GO:0019901 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019901 GO_function GO:0042169 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042169 GO_function GO:0043014 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043014 GO_function GO:0048487 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048487 GO_function GO:0051015 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051015 GO_process GO:0000122 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000122 GO_process GO:0002024 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002024 GO_process GO:0006816 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006816 GO_process GO:0006874 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006874 GO_process GO:0006884 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006884 GO_process GO:0007015 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007015 GO_process GO:0007043 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007043 GO_process GO:0007204 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007204 GO_process GO:0007231 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007231 GO_process GO:0009612 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009612 GO_process GO:0010628 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010628 GO_process GO:0010759 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010759 GO_process GO:0010977 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010977 GO_process GO:0030103 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030103 GO_process GO:0031117 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031117 GO_process GO:0031532 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031532 GO_process GO:0032868 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032868 GO_process GO:0034605 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034605 GO_process GO:0042538 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042538 GO_process GO:0042593 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042593 GO_process GO:0043117 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043117 GO_process GO:0043622 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043622 GO_process GO:0046330 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046330 GO_process GO:0046785 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046785 GO_process GO:0047484 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0047484 GO_process GO:0050729 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050729 GO_process GO:0050891 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050891 GO_process GO:0070374 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070374 GO_process GO:0070509 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070509 GO_process GO:0070588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070588 GO_process GO:0071470 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071470 GO_process GO:0071476 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071476 GO_process GO:0071477 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071477 GO_process GO:0071639 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071639 GO_process GO:0071642 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071642 GO_process GO:0071651 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071651 GO_process GO:0097497 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097497 GO_process GO:1903444 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903444 GO_process GO:1903759 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903759 GO_process GO:2000340 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000340 GO_process GO:2000507 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000507 GO_process GO:2000778 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000778 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005856 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0005929 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005929 GOslim_component GO:0031410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0008092 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008092 GOslim_function GO:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0003013 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003013 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007010 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007010 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0022607 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022607 GOslim_process GO:0034330 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034330 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.25.40.20 http://www.cathdb.info/version/latest/superfamily/1.25.40.20 GeneCards TRPV4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=TRPV4 GeneID 59341 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=59341 GeneTree ENSGT00550000074425 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074425 HGNC HGNC:18083 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:18083 HOVERGEN HBG054085 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG054085&db=HOVERGEN HPA HPA007150 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA007150 InParanoid Q9HBA0 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9HBA0 IntAct Q9HBA0 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9HBA0* InterPro IPR002110 http://www.ebi.ac.uk/interpro/entry/IPR002110 InterPro IPR004729 http://www.ebi.ac.uk/interpro/entry/IPR004729 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR008347 http://www.ebi.ac.uk/interpro/entry/IPR008347 InterPro IPR008348 http://www.ebi.ac.uk/interpro/entry/IPR008348 InterPro IPR020683 http://www.ebi.ac.uk/interpro/entry/IPR020683 Jabion 59341 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=59341 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00455 http://www.genome.jp/dbget-bin/www_bget?H00455 KEGG_Disease H00522 http://www.genome.jp/dbget-bin/www_bget?H00522 KEGG_Disease H00524 http://www.genome.jp/dbget-bin/www_bget?H00524 KEGG_Disease H00856 http://www.genome.jp/dbget-bin/www_bget?H00856 KEGG_Gene hsa:59341 http://www.genome.jp/dbget-bin/www_bget?hsa:59341 KEGG_Orthology KO:K04973 http://www.genome.jp/dbget-bin/www_bget?KO:K04973 MIM 113500 http://www.ncbi.nlm.nih.gov/omim/113500 MIM 156530 http://www.ncbi.nlm.nih.gov/omim/156530 MIM 168400 http://www.ncbi.nlm.nih.gov/omim/168400 MIM 181405 http://www.ncbi.nlm.nih.gov/omim/181405 MIM 184095 http://www.ncbi.nlm.nih.gov/omim/184095 MIM 184252 http://www.ncbi.nlm.nih.gov/omim/184252 MIM 600175 http://www.ncbi.nlm.nih.gov/omim/600175 MIM 605427 http://www.ncbi.nlm.nih.gov/omim/605427 MIM 606071 http://www.ncbi.nlm.nih.gov/omim/606071 MIM 606835 http://www.ncbi.nlm.nih.gov/omim/606835 MIM 613508 http://www.ncbi.nlm.nih.gov/omim/613508 MINT MINT-4535111 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-4535111 OMA KSETYQY http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=KSETYQY Orphanet 1216 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1216 Orphanet 263482 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=263482 Orphanet 2635 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=2635 Orphanet 2646 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=2646 Orphanet 85169 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=85169 Orphanet 93304 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=93304 Orphanet 93314 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=93314 Orphanet 99937 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=99937 OrthoDB EOG091G016O http://cegg.unige.ch/orthodb/results?searchtext=EOG091G016O PANTHER PTHR10582:SF4 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10582:SF4 PDB 4DX1 http://www.ebi.ac.uk/pdbe-srv/view/entry/4DX1 PDB 4DX2 http://www.ebi.ac.uk/pdbe-srv/view/entry/4DX2 PDBsum 4DX1 http://www.ebi.ac.uk/pdbsum/4DX1 PDBsum 4DX2 http://www.ebi.ac.uk/pdbsum/4DX2 PRINTS PR01768 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01768 PRINTS PR01769 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01769 PROSITE PS50088 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50088 PROSITE PS50297 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50297 PSORT swissprot:TRPV4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:TRPV4_HUMAN PSORT-B swissprot:TRPV4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:TRPV4_HUMAN PSORT2 swissprot:TRPV4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:TRPV4_HUMAN Pfam PF00023 http://pfam.xfam.org/family/PF00023 Pfam PF00520 http://pfam.xfam.org/family/PF00520 PharmGKB PA38293 http://www.pharmgkb.org/do/serve?objId=PA38293&objCls=Gene Phobius swissprot:TRPV4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:TRPV4_HUMAN PhylomeDB Q9HBA0 http://phylomedb.org/?seqid=Q9HBA0 ProteinModelPortal Q9HBA0 http://www.proteinmodelportal.org/query/uniprot/Q9HBA0 PubMed 11025659 http://www.ncbi.nlm.nih.gov/pubmed/11025659 PubMed 11081638 http://www.ncbi.nlm.nih.gov/pubmed/11081638 PubMed 12692122 http://www.ncbi.nlm.nih.gov/pubmed/12692122 PubMed 12724311 http://www.ncbi.nlm.nih.gov/pubmed/12724311 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16293632 http://www.ncbi.nlm.nih.gov/pubmed/16293632 PubMed 18587396 http://www.ncbi.nlm.nih.gov/pubmed/18587396 PubMed 18695040 http://www.ncbi.nlm.nih.gov/pubmed/18695040 PubMed 18826956 http://www.ncbi.nlm.nih.gov/pubmed/18826956 PubMed 19232556 http://www.ncbi.nlm.nih.gov/pubmed/19232556 PubMed 19666518 http://www.ncbi.nlm.nih.gov/pubmed/19666518 PubMed 19759329 http://www.ncbi.nlm.nih.gov/pubmed/19759329 PubMed 20037586 http://www.ncbi.nlm.nih.gov/pubmed/20037586 PubMed 20037587 http://www.ncbi.nlm.nih.gov/pubmed/20037587 PubMed 20037588 http://www.ncbi.nlm.nih.gov/pubmed/20037588 PubMed 20425821 http://www.ncbi.nlm.nih.gov/pubmed/20425821 PubMed 20503319 http://www.ncbi.nlm.nih.gov/pubmed/20503319 PubMed 20577006 http://www.ncbi.nlm.nih.gov/pubmed/20577006 PubMed 21115951 http://www.ncbi.nlm.nih.gov/pubmed/21115951 PubMed 21288981 http://www.ncbi.nlm.nih.gov/pubmed/21288981 PubMed 21964574 http://www.ncbi.nlm.nih.gov/pubmed/21964574 PubMed 22328087 http://www.ncbi.nlm.nih.gov/pubmed/22328087 PubMed 22526352 http://www.ncbi.nlm.nih.gov/pubmed/22526352 PubMed 22702953 http://www.ncbi.nlm.nih.gov/pubmed/22702953 Reactome R-HSA-3295583 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-3295583 RefSeq NP_001170899 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001170899 RefSeq NP_001170902 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001170902 RefSeq NP_001170904 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001170904 RefSeq NP_067638 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_067638 RefSeq NP_671737 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_671737 RefSeq XP_005253975 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005253975 RefSeq XP_016875263 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016875263 SMART SM00248 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00248 SMR Q9HBA0 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9HBA0 STRING 9606.ENSP00000261740 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000261740&targetmode=cogs SUPFAM SSF48403 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48403 TIGRFAMs TIGR00870 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00870 UCSC uc001tpg http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001tpg&org=rat UniGene Hs.506713 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.506713 UniProtKB TRPV4_HUMAN http://www.uniprot.org/uniprot/TRPV4_HUMAN UniProtKB-AC Q9HBA0 http://www.uniprot.org/uniprot/Q9HBA0 charge swissprot:TRPV4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:TRPV4_HUMAN eggNOG ENOG4110DG4 http://eggnogapi.embl.de/nog_data/html/tree/ENOG4110DG4 eggNOG KOG3676 http://eggnogapi.embl.de/nog_data/html/tree/KOG3676 epestfind swissprot:TRPV4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:TRPV4_HUMAN garnier swissprot:TRPV4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:TRPV4_HUMAN helixturnhelix swissprot:TRPV4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:TRPV4_HUMAN hmoment swissprot:TRPV4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:TRPV4_HUMAN iep swissprot:TRPV4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:TRPV4_HUMAN inforesidue swissprot:TRPV4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:TRPV4_HUMAN neXtProt NX_Q9HBA0 http://www.nextprot.org/db/entry/NX_Q9HBA0 octanol swissprot:TRPV4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:TRPV4_HUMAN pepcoil swissprot:TRPV4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:TRPV4_HUMAN pepdigest swissprot:TRPV4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:TRPV4_HUMAN pepinfo swissprot:TRPV4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:TRPV4_HUMAN pepnet swissprot:TRPV4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:TRPV4_HUMAN pepstats swissprot:TRPV4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:TRPV4_HUMAN pepwheel swissprot:TRPV4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:TRPV4_HUMAN pepwindow swissprot:TRPV4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:TRPV4_HUMAN sigcleave swissprot:TRPV4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:TRPV4_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS EAA4_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P48664-1; Sequence=Displayed; Name=2; IsoId=P48664-2; Sequence=VSP_055130; # AltName EAA4_HUMAN Sodium-dependent glutamate/aspartate transporter # AltName EAA4_HUMAN Solute carrier family 1 member 6 # CCDS CCDS12321 -. [P48664-1] # CCDS CCDS62578 -. [P48664-2] # Ensembl ENST00000221742 ENSP00000221742; ENSG00000105143. [P48664-1] # Ensembl ENST00000544886 ENSP00000446175; ENSG00000105143. [P48664-2] # Ensembl ENST00000598504 ENSP00000471781; ENSG00000105143. [P48664-2] # ExpressionAtlas P48664 baseline and differential # FUNCTION EAA4_HUMAN Transports L-glutamate and also L- and D-aspartate. Seems to act as a symport by cotransporting sodium. # GO_component GO:0005794 Golgi apparatus; IEA:Ensembl. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0016020 membrane; TAS:ProtInc. # GO_function GO:0005314 high-affinity glutamate transmembrane transporter activity; TAS:Reactome. # GO_function GO:0015171 amino acid transmembrane transporter activity; TAS:Reactome. # GO_function GO:0015183 L-aspartate transmembrane transporter activity; TAS:ProtInc. # GO_process GO:0006811 ion transport; TAS:Reactome. # GO_process GO:0007268 chemical synaptic transmission; TAS:ProtInc. # GO_process GO:0014047 glutamate secretion; TAS:Reactome. # GO_process GO:0015810 aspartate transport; TAS:ProtInc. # GO_process GO:0015813 L-glutamate transport; TAS:ProtInc. # GO_process GO:0042391 regulation of membrane potential; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005794 Golgi apparatus # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # Gene3D 1.10.3860.10 -; 2. # Genevisible P48664 HS # HGNC HGNC:10944 SLC1A6 # InterPro IPR001991 Na-dicarboxylate_symporter # InterPro IPR018107 Na-dicarboxylate_symporter_CS # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02001 Solute carrier family # KEGG_Pathway ko04724 Glutamatergic synapse # MIM 600637 gene # Organism EAA4_HUMAN Homo sapiens (Human) # PANTHER PTHR11958 PTHR11958; 2 # PIR S58398 S58398 # PRINTS PR00173 EDTRNSPORT # PROSITE PS00713 NA_DICARBOXYL_SYMP_1 # PROSITE PS00714 NA_DICARBOXYL_SYMP_2 # Pfam PF00375 SDF # Proteomes UP000005640 Chromosome 19 # Reactome R-HSA-210500 Glutamate Neurotransmitter Release Cycle # Reactome R-HSA-425393 Transport of inorganic cations/anions and amino acids/oligopeptides # RecName EAA4_HUMAN Excitatory amino acid transporter 4 # RefSeq NP_001259016 NM_001272087.1. [P48664-2] # RefSeq NP_001259017 NM_001272088.1. [P48664-2] # RefSeq NP_005062 NM_005071.2. [P48664-1] # RefSeq XP_006722905 XM_006722842.1. [P48664-1] # RefSeq XP_006722907 XM_006722844.1. [P48664-1] # RefSeq XP_016882641 XM_017027152.1. [P48664-1] # SIMILARITY Belongs to the dicarboxylate/amino acid:cation symporter (DAACS) (TC 2.A.23) family. SLC1A6 subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION EAA4_HUMAN Membrane; Multi-pass membrane protein. # SUPFAM SSF118215 SSF118215; 2 # TCDB 2.A.23.2:the dicarboxylate/amino acid cation (na(+) or h(+)) symporter (daacs) family # TISSUE SPECIFICITY EAA4_HUMAN Brain. Expressed densely and selectively in cell bodies of Purkinje cells. # UCSC uc002naa human. [P48664-1] # eggNOG COG1301 LUCA # eggNOG KOG3787 Eukaryota BLAST swissprot:EAA4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:EAA4_HUMAN BioCyc ZFISH:ENSG00000105143-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000105143-MONOMER COXPRESdb 6511 http://coxpresdb.jp/data/gene/6511.shtml CleanEx HS_SLC1A6 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC1A6 DOI 10.1038/375599a0 http://dx.doi.org/10.1038/375599a0 DOI 10.1038/nature02399 http://dx.doi.org/10.1038/nature02399 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AC004659 http://www.ebi.ac.uk/ena/data/view/AC004659 EMBL AC104528 http://www.ebi.ac.uk/ena/data/view/AC104528 EMBL BC028721 http://www.ebi.ac.uk/ena/data/view/BC028721 EMBL BC040604 http://www.ebi.ac.uk/ena/data/view/BC040604 EMBL U18244 http://www.ebi.ac.uk/ena/data/view/U18244 Ensembl ENST00000221742 http://www.ensembl.org/id/ENST00000221742 Ensembl ENST00000544886 http://www.ensembl.org/id/ENST00000544886 Ensembl ENST00000598504 http://www.ensembl.org/id/ENST00000598504 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_function GO:0005314 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005314 GO_function GO:0015171 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015171 GO_function GO:0015183 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015183 GO_process GO:0006811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006811 GO_process GO:0007268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007268 GO_process GO:0014047 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014047 GO_process GO:0015810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015810 GO_process GO:0015813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015813 GO_process GO:0042391 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042391 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 Gene3D 1.10.3860.10 http://www.cathdb.info/version/latest/superfamily/1.10.3860.10 GeneCards SLC1A6 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC1A6 GeneID 6511 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6511 GeneTree ENSGT00760000119117 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119117 HGNC HGNC:10944 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10944 HOGENOM HOG000208776 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000208776&db=HOGENOM6 HOVERGEN HBG000080 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG000080&db=HOVERGEN HPA HPA041505 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA041505 HPA HPA044066 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA044066 InParanoid P48664 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P48664 IntAct P48664 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P48664* InterPro IPR001991 http://www.ebi.ac.uk/interpro/entry/IPR001991 InterPro IPR018107 http://www.ebi.ac.uk/interpro/entry/IPR018107 Jabion 6511 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6511 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:6511 http://www.genome.jp/dbget-bin/www_bget?hsa:6511 KEGG_Orthology KO:K05617 http://www.genome.jp/dbget-bin/www_bget?KO:K05617 KEGG_Pathway ko04724 http://www.genome.jp/kegg-bin/show_pathway?ko04724 MIM 600637 http://www.ncbi.nlm.nih.gov/omim/600637 OMA IAVYIGC http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=IAVYIGC OrthoDB EOG091G0UCE http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0UCE PANTHER PTHR11958 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11958 PRINTS PR00173 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00173 PROSITE PS00713 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00713 PROSITE PS00714 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00714 PSORT swissprot:EAA4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:EAA4_HUMAN PSORT-B swissprot:EAA4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:EAA4_HUMAN PSORT2 swissprot:EAA4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:EAA4_HUMAN Pfam PF00375 http://pfam.xfam.org/family/PF00375 PharmGKB PA35831 http://www.pharmgkb.org/do/serve?objId=PA35831&objCls=Gene Phobius swissprot:EAA4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:EAA4_HUMAN PhylomeDB P48664 http://phylomedb.org/?seqid=P48664 ProteinModelPortal P48664 http://www.proteinmodelportal.org/query/uniprot/P48664 PubMed 15057824 http://www.ncbi.nlm.nih.gov/pubmed/15057824 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 7791878 http://www.ncbi.nlm.nih.gov/pubmed/7791878 Reactome R-HSA-210500 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-210500 Reactome R-HSA-425393 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-425393 RefSeq NP_001259016 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001259016 RefSeq NP_001259017 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001259017 RefSeq NP_005062 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_005062 RefSeq XP_006722905 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006722905 RefSeq XP_006722907 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006722907 RefSeq XP_016882641 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016882641 STRING 9606.ENSP00000221742 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000221742&targetmode=cogs SUPFAM SSF118215 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF118215 TCDB 2.A.23.2 http://www.tcdb.org/search/result.php?tc=2.A.23.2 UCSC uc002naa http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002naa&org=rat UniGene Hs.515217 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.515217 UniGene Hs.733178 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.733178 UniProtKB EAA4_HUMAN http://www.uniprot.org/uniprot/EAA4_HUMAN UniProtKB-AC P48664 http://www.uniprot.org/uniprot/P48664 charge swissprot:EAA4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:EAA4_HUMAN eggNOG COG1301 http://eggnogapi.embl.de/nog_data/html/tree/COG1301 eggNOG KOG3787 http://eggnogapi.embl.de/nog_data/html/tree/KOG3787 epestfind swissprot:EAA4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:EAA4_HUMAN garnier swissprot:EAA4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:EAA4_HUMAN helixturnhelix swissprot:EAA4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:EAA4_HUMAN hmoment swissprot:EAA4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:EAA4_HUMAN iep swissprot:EAA4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:EAA4_HUMAN inforesidue swissprot:EAA4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:EAA4_HUMAN neXtProt NX_P48664 http://www.nextprot.org/db/entry/NX_P48664 octanol swissprot:EAA4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:EAA4_HUMAN pepcoil swissprot:EAA4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:EAA4_HUMAN pepdigest swissprot:EAA4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:EAA4_HUMAN pepinfo swissprot:EAA4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:EAA4_HUMAN pepnet swissprot:EAA4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:EAA4_HUMAN pepstats swissprot:EAA4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:EAA4_HUMAN pepwheel swissprot:EAA4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:EAA4_HUMAN pepwindow swissprot:EAA4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:EAA4_HUMAN sigcleave swissprot:EAA4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:EAA4_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS FA26D_HUMAN Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q5JW98-1; Sequence=Displayed; Name=2; IsoId=Q5JW98-2; Sequence=VSP_013817; Name=3; IsoId=Q5JW98-3; Sequence=VSP_018252; Name=4; IsoId=Q5JW98-4; Sequence=VSP_045216; # BioGrid 128707 15 # CCDS CCDS5109 -. [Q5JW98-2] # CCDS CCDS59031 -. [Q5JW98-4] # CCDS CCDS59032 -. [Q5JW98-3] # Ensembl ENST00000368596 ENSP00000357585; ENSG00000164451. [Q5JW98-1] # Ensembl ENST00000368597 ENSP00000357586; ENSG00000164451. [Q5JW98-2] # Ensembl ENST00000405399 ENSP00000385836; ENSG00000164451. [Q5JW98-3] # Ensembl ENST00000628083 ENSP00000487169; ENSG00000164451. [Q5JW98-4] # ExpressionAtlas Q5JW98 baseline and differential # FUNCTION FA26D_HUMAN Pore-forming subunit of a voltage-gated ion channel. {ECO 0000250}. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_function GO:0005261 cation channel activity; IBA:GO_Central. # GO_process GO:0034220 ion transmembrane transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0055085 transmembrane transport # HGNC HGNC:21094 FAM26D # InterPro IPR029569 FAM26 # InterPro IPR029574 FAM26D # Organism FA26D_HUMAN Homo sapiens (Human) # PANTHER PTHR32261 PTHR32261 # PANTHER PTHR32261:SF5 PTHR32261:SF5 # Pfam PF14798 Ca_hom_mod # Proteomes UP000005640 Chromosome 6 # RecName FA26D_HUMAN Protein FAM26D # RefSeq NP_001243816 NM_001256887.2. [Q5JW98-3] # RefSeq NP_001243817 NM_001256888.2. [Q5JW98-4] # RefSeq NP_001243818 NM_001256889.2. [Q5JW98-2] # RefSeq NP_694581 NM_153036.4. [Q5JW98-2] # RefSeq XP_005266917 XM_005266860.3. [Q5JW98-1] # SIMILARITY Belongs to the FAM26 family. {ECO 0000305}. # SUBCELLULAR LOCATION FA26D_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # TCDB 1.A.84.1 the calcium homeostasis modulator ca(2+) channel (calhm-c) family # UCSC uc003pwz human. [Q5JW98-1] # eggNOG ENOG410KCWY Eukaryota # eggNOG ENOG4110NTE LUCA BLAST swissprot:FA26D_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:FA26D_HUMAN COXPRESdb 221301 http://coxpresdb.jp/data/gene/221301.shtml CleanEx HS_FAM26D http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_FAM26D DOI 10.1038/nature02055 http://dx.doi.org/10.1038/nature02055 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.1293003 http://dx.doi.org/10.1101/gr.1293003 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AK056801 http://www.ebi.ac.uk/ena/data/view/AK056801 EMBL AK300309 http://www.ebi.ac.uk/ena/data/view/AK300309 EMBL AL121953 http://www.ebi.ac.uk/ena/data/view/AL121953 EMBL AL121953 http://www.ebi.ac.uk/ena/data/view/AL121953 EMBL AL121953 http://www.ebi.ac.uk/ena/data/view/AL121953 EMBL AY358252 http://www.ebi.ac.uk/ena/data/view/AY358252 EMBL BC057769 http://www.ebi.ac.uk/ena/data/view/BC057769 EMBL CH471051 http://www.ebi.ac.uk/ena/data/view/CH471051 EMBL CH471051 http://www.ebi.ac.uk/ena/data/view/CH471051 Ensembl ENST00000368596 http://www.ensembl.org/id/ENST00000368596 Ensembl ENST00000368597 http://www.ensembl.org/id/ENST00000368597 Ensembl ENST00000405399 http://www.ensembl.org/id/ENST00000405399 Ensembl ENST00000628083 http://www.ensembl.org/id/ENST00000628083 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0005261 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005261 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards FAM26D http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=FAM26D GeneID 221301 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=221301 GeneTree ENSGT00530000062796 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000062796 H-InvDB HIX0200851 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0200851 HGNC HGNC:21094 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:21094 HOGENOM HOG000294134 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000294134&db=HOGENOM6 HOVERGEN HBG099442 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG099442&db=HOVERGEN HPA HPA019178 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA019178 HPA HPA048014 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA048014 InParanoid Q5JW98 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q5JW98 InterPro IPR029569 http://www.ebi.ac.uk/interpro/entry/IPR029569 InterPro IPR029574 http://www.ebi.ac.uk/interpro/entry/IPR029574 Jabion 221301 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=221301 KEGG_Gene hsa:221301 http://www.genome.jp/dbget-bin/www_bget?hsa:221301 OMA CPCQVGK http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=CPCQVGK OrthoDB EOG091G0BN1 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0BN1 PANTHER PTHR32261 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR32261 PANTHER PTHR32261:SF5 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR32261:SF5 PSORT swissprot:FA26D_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:FA26D_HUMAN PSORT-B swissprot:FA26D_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:FA26D_HUMAN PSORT2 swissprot:FA26D_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:FA26D_HUMAN Pfam PF14798 http://pfam.xfam.org/family/PF14798 PharmGKB PA162387625 http://www.pharmgkb.org/do/serve?objId=PA162387625&objCls=Gene Phobius swissprot:FA26D_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:FA26D_HUMAN PhylomeDB Q5JW98 http://phylomedb.org/?seqid=Q5JW98 ProteinModelPortal Q5JW98 http://www.proteinmodelportal.org/query/uniprot/Q5JW98 PubMed 12975309 http://www.ncbi.nlm.nih.gov/pubmed/12975309 PubMed 14574404 http://www.ncbi.nlm.nih.gov/pubmed/14574404 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 RefSeq NP_001243816 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001243816 RefSeq NP_001243817 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001243817 RefSeq NP_001243818 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001243818 RefSeq NP_694581 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_694581 RefSeq XP_005266917 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005266917 STRING 9606.ENSP00000357586 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000357586&targetmode=cogs TCDB 1.A.84.1 http://www.tcdb.org/search/result.php?tc=1.A.84.1 UCSC uc003pwz http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003pwz&org=rat UniGene Hs.350750 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.350750 UniProtKB FA26D_HUMAN http://www.uniprot.org/uniprot/FA26D_HUMAN UniProtKB-AC Q5JW98 http://www.uniprot.org/uniprot/Q5JW98 charge swissprot:FA26D_HUMAN http://rest.g-language.org/emboss/charge/swissprot:FA26D_HUMAN eggNOG ENOG410KCWY http://eggnogapi.embl.de/nog_data/html/tree/ENOG410KCWY eggNOG ENOG4110NTE http://eggnogapi.embl.de/nog_data/html/tree/ENOG4110NTE epestfind swissprot:FA26D_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:FA26D_HUMAN garnier swissprot:FA26D_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:FA26D_HUMAN helixturnhelix swissprot:FA26D_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:FA26D_HUMAN hmoment swissprot:FA26D_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:FA26D_HUMAN iep swissprot:FA26D_HUMAN http://rest.g-language.org/emboss/iep/swissprot:FA26D_HUMAN inforesidue swissprot:FA26D_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:FA26D_HUMAN neXtProt NX_Q5JW98 http://www.nextprot.org/db/entry/NX_Q5JW98 octanol swissprot:FA26D_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:FA26D_HUMAN pepcoil swissprot:FA26D_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:FA26D_HUMAN pepdigest swissprot:FA26D_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:FA26D_HUMAN pepinfo swissprot:FA26D_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:FA26D_HUMAN pepnet swissprot:FA26D_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:FA26D_HUMAN pepstats swissprot:FA26D_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:FA26D_HUMAN pepwheel swissprot:FA26D_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:FA26D_HUMAN pepwindow swissprot:FA26D_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:FA26D_HUMAN sigcleave swissprot:FA26D_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:FA26D_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS XPR1_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9UBH6-1; Sequence=Displayed; Name=2; IsoId=Q9UBH6-2; Sequence=VSP_030748; # AltName XPR1_HUMAN Protein SYG1 homolog # AltName XPR1_HUMAN Xenotropic and polytropic murine leukemia virus receptor X3 # BioGrid 114647 42 # CAUTION It is unclear whether its ability to act as a receptor for xenotropic and polytropic murine leukemia retroviruses is relevant in vivo and whether such viruses can infect human. {ECO 0000305}. # CCDS CCDS1340 -. [Q9UBH6-1] # CCDS CCDS44284 -. [Q9UBH6-2] # DEVELOPMENTAL STAGE XPR1_HUMAN Expressed in fetal liver. {ECO 0000269|PubMed 9927670, ECO 0000269|PubMed 9990033}. # DISEASE XPR1_HUMAN Basal ganglia calcification, idiopathic, 6 (IBGC6) [MIM 616413] A form of basal ganglia calcification, an autosomal dominant condition characterized by symmetric calcification in the basal ganglia and other brain regions. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone are normal. The neuropathological hallmark of the disease is vascular and pericapillary calcification, mainly of calcium phosphate, in the affected brain areas. {ECO 0000269|PubMed 25938945}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DOMAIN XPR1_HUMAN The SPX domain has high affinity for inositol polyphosphates, such as myo-inositol hexakisphosphate and 5- diphospho-myo-inositol pentakisphosphate (5-InsP7). Its affinity for inorganic phosphate is tow to three orders of magnitude lower. {ECO 0000269|PubMed 27080106}. # Ensembl ENST00000367589 ENSP00000356561; ENSG00000143324. [Q9UBH6-2] # Ensembl ENST00000367590 ENSP00000356562; ENSG00000143324. [Q9UBH6-1] # ExpressionAtlas Q9UBH6 baseline and differential # FUNCTION XPR1_HUMAN Plays a role in phosphate homeostasis. Mediates phosphate export from the cell (PubMed 23791524, PubMed 25938945). Binds inositol hexakisphosphate (Ins6P) and similar inositol polyphosphates, such as 5-diphospho-inositol pentakisphosphate (5- InsP7); these are important intracellular signaling molecules (PubMed 27080106). {ECO 0000250|UniProtKB Q9Z0U0, ECO 0000269|PubMed 23791524, ECO 0000269|PubMed 25938945, ECO 0000269|PubMed 27080106}. # GO_component GO:0005794 Golgi apparatus; IBA:GO_Central. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0031226 intrinsic component of plasma membrane; IDA:UniProtKB. # GO_function GO:0000822 inositol hexakisphosphate binding; IDA:UniProtKB. # GO_function GO:0001618 virus receptor activity; IMP:UniProtKB. # GO_function GO:0004872 receptor activity; TAS:ProtInc. # GO_function GO:0004888 transmembrane signaling receptor activity; TAS:ProtInc. # GO_function GO:0004930 G-protein coupled receptor activity; TAS:ProtInc. # GO_function GO:0015114 phosphate ion transmembrane transporter activity; IMP:UniProtKB. # GO_function GO:0015562 efflux transmembrane transporter activity; IMP:UniProtKB. # GO_process GO:0007186 G-protein coupled receptor signaling pathway; TAS:ProtInc. # GO_process GO:0009615 response to virus; IEA:Ensembl. # GO_process GO:0030643 cellular phosphate ion homeostasis; IMP:UniProtKB. # GO_process GO:0035435 phosphate ion transmembrane transport; IMP:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005794 Golgi apparatus # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0044403 symbiosis, encompassing mutualism through parasitism # GOslim_process GO:0055085 transmembrane transport # Genevisible Q9UBH6 HS # HGNC HGNC:12827 XPR1 # IntAct Q9UBH6 21 # InterPro IPR004331 SPX_dom # InterPro IPR004342 EXS_C # KEGG_Disease H01574 [Nervous system disease] Fahr's disease # MIM 605237 gene # MIM 616413 phenotype # Organism XPR1_HUMAN Homo sapiens (Human) # PDB 5IJH X-ray; 2.43 A; A/B=1-207 # PIR T42660 T42660 # PROSITE PS51380 EXS # PROSITE PS51382 SPX # Pfam PF03105 SPX; 3 # Pfam PF03124 EXS # Proteomes UP000005640 Chromosome 1 # RecName XPR1_HUMAN Xenotropic and polytropic retrovirus receptor 1 # RefSeq NP_001129141 NM_001135669.1. [Q9UBH6-2] # RefSeq NP_004727 NM_004736.3. [Q9UBH6-1] # SIMILARITY Belongs to the SYG1 (TC 2.A.94) family. {ECO 0000305}. # SIMILARITY Contains 1 EXS domain. {ECO:0000255|PROSITE- ProRule PRU00712}. # SIMILARITY Contains 1 SPX domain. {ECO:0000255|PROSITE- ProRule PRU00714}. # SUBCELLULAR LOCATION XPR1_HUMAN Cell membrane {ECO 0000269|PubMed 23791524}; Multi-pass membrane protein {ECO 0000305}. # TISSUE SPECIFICITY XPR1_HUMAN Widely expressed. Detected in spleen, lymph node, thymus, leukocytes, bone marrow, heart, kidney, pancreas and skeletal muscle. {ECO 0000269|PubMed 9927670, ECO 0000269|PubMed 9990033}. # UCSC uc001goi human. [Q9UBH6-1] # eggNOG COG5409 LUCA # eggNOG KOG1162 Eukaryota BLAST swissprot:XPR1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:XPR1_HUMAN BioCyc ZFISH:ENSG00000143324-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000143324-MONOMER COXPRESdb 9213 http://coxpresdb.jp/data/gene/9213.shtml CleanEx HS_XPR1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_XPR1 DOI 10.1016/j.cell.2006.09.026 http://dx.doi.org/10.1016/j.cell.2006.09.026 DOI 10.1016/j.celrep.2013.05.035 http://dx.doi.org/10.1016/j.celrep.2013.05.035 DOI 10.1021/ac9004309 http://dx.doi.org/10.1021/ac9004309 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/6005 http://dx.doi.org/10.1038/6005 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1038/ng.3289 http://dx.doi.org/10.1038/ng.3289 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1073/pnas.96.3.927 http://dx.doi.org/10.1073/pnas.96.3.927 DOI 10.1073/pnas.96.4.1385 http://dx.doi.org/10.1073/pnas.96.4.1385 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.aad9858 http://dx.doi.org/10.1126/science.aad9858 DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 EMBL AF089744 http://www.ebi.ac.uk/ena/data/view/AF089744 EMBL AF099082 http://www.ebi.ac.uk/ena/data/view/AF099082 EMBL AF115389 http://www.ebi.ac.uk/ena/data/view/AF115389 EMBL AL133058 http://www.ebi.ac.uk/ena/data/view/AL133058 EMBL AL137583 http://www.ebi.ac.uk/ena/data/view/AL137583 EMBL AL162431 http://www.ebi.ac.uk/ena/data/view/AL162431 EMBL AL162431 http://www.ebi.ac.uk/ena/data/view/AL162431 EMBL AL162431 http://www.ebi.ac.uk/ena/data/view/AL162431 EMBL AL162431 http://www.ebi.ac.uk/ena/data/view/AL162431 EMBL AL162431 http://www.ebi.ac.uk/ena/data/view/AL162431 EMBL AL162431 http://www.ebi.ac.uk/ena/data/view/AL162431 EMBL AL358434 http://www.ebi.ac.uk/ena/data/view/AL358434 EMBL AL358434 http://www.ebi.ac.uk/ena/data/view/AL358434 EMBL AL358434 http://www.ebi.ac.uk/ena/data/view/AL358434 EMBL AL358434 http://www.ebi.ac.uk/ena/data/view/AL358434 EMBL AL358434 http://www.ebi.ac.uk/ena/data/view/AL358434 EMBL AL358434 http://www.ebi.ac.uk/ena/data/view/AL358434 EMBL AL590085 http://www.ebi.ac.uk/ena/data/view/AL590085 EMBL AL590085 http://www.ebi.ac.uk/ena/data/view/AL590085 EMBL AL590085 http://www.ebi.ac.uk/ena/data/view/AL590085 EMBL AL590085 http://www.ebi.ac.uk/ena/data/view/AL590085 EMBL AL590085 http://www.ebi.ac.uk/ena/data/view/AL590085 EMBL AL590085 http://www.ebi.ac.uk/ena/data/view/AL590085 EMBL BC041142 http://www.ebi.ac.uk/ena/data/view/BC041142 EMBL CH471067 http://www.ebi.ac.uk/ena/data/view/CH471067 Ensembl ENST00000367589 http://www.ensembl.org/id/ENST00000367589 Ensembl ENST00000367590 http://www.ensembl.org/id/ENST00000367590 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0031226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031226 GO_function GO:0000822 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000822 GO_function GO:0001618 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001618 GO_function GO:0004872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004872 GO_function GO:0004888 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004888 GO_function GO:0004930 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004930 GO_function GO:0015114 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015114 GO_function GO:0015562 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015562 GO_process GO:0007186 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007186 GO_process GO:0009615 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009615 GO_process GO:0030643 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030643 GO_process GO:0035435 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035435 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0044403 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044403 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards XPR1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=XPR1 GeneID 9213 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=9213 GeneTree ENSGT00500000044895 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00500000044895 H-InvDB HIX0001390 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0001390 HGNC HGNC:12827 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:12827 HOGENOM HOG000046196 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000046196&db=HOGENOM6 HOVERGEN HBG108684 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG108684&db=HOVERGEN HPA HPA016557 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA016557 InParanoid Q9UBH6 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9UBH6 IntAct Q9UBH6 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9UBH6* InterPro IPR004331 http://www.ebi.ac.uk/interpro/entry/IPR004331 InterPro IPR004342 http://www.ebi.ac.uk/interpro/entry/IPR004342 Jabion 9213 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=9213 KEGG_Disease H01574 http://www.genome.jp/dbget-bin/www_bget?H01574 KEGG_Gene hsa:9213 http://www.genome.jp/dbget-bin/www_bget?hsa:9213 MIM 605237 http://www.ncbi.nlm.nih.gov/omim/605237 MIM 616413 http://www.ncbi.nlm.nih.gov/omim/616413 OMA WTVQISI http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=WTVQISI OrthoDB EOG091G02HT http://cegg.unige.ch/orthodb/results?searchtext=EOG091G02HT PDB 5IJH http://www.ebi.ac.uk/pdbe-srv/view/entry/5IJH PDBsum 5IJH http://www.ebi.ac.uk/pdbsum/5IJH PROSITE PS51380 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51380 PROSITE PS51382 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51382 PSORT swissprot:XPR1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:XPR1_HUMAN PSORT-B swissprot:XPR1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:XPR1_HUMAN PSORT2 swissprot:XPR1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:XPR1_HUMAN Pfam PF03105 http://pfam.xfam.org/family/PF03105 Pfam PF03124 http://pfam.xfam.org/family/PF03124 PharmGKB PA37420 http://www.pharmgkb.org/do/serve?objId=PA37420&objCls=Gene Phobius swissprot:XPR1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:XPR1_HUMAN PhylomeDB Q9UBH6 http://phylomedb.org/?seqid=Q9UBH6 ProteinModelPortal Q9UBH6 http://www.proteinmodelportal.org/query/uniprot/Q9UBH6 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 17081983 http://www.ncbi.nlm.nih.gov/pubmed/17081983 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 19413330 http://www.ncbi.nlm.nih.gov/pubmed/19413330 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 23791524 http://www.ncbi.nlm.nih.gov/pubmed/23791524 PubMed 25938945 http://www.ncbi.nlm.nih.gov/pubmed/25938945 PubMed 27080106 http://www.ncbi.nlm.nih.gov/pubmed/27080106 PubMed 9927670 http://www.ncbi.nlm.nih.gov/pubmed/9927670 PubMed 9988277 http://www.ncbi.nlm.nih.gov/pubmed/9988277 PubMed 9990033 http://www.ncbi.nlm.nih.gov/pubmed/9990033 RefSeq NP_001129141 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001129141 RefSeq NP_004727 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004727 SMR Q9UBH6 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9UBH6 STRING 9606.ENSP00000356562 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000356562&targetmode=cogs UCSC uc001goi http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001goi&org=rat UniGene Hs.227656 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.227656 UniProtKB XPR1_HUMAN http://www.uniprot.org/uniprot/XPR1_HUMAN UniProtKB-AC Q9UBH6 http://www.uniprot.org/uniprot/Q9UBH6 charge swissprot:XPR1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:XPR1_HUMAN eggNOG COG5409 http://eggnogapi.embl.de/nog_data/html/tree/COG5409 eggNOG KOG1162 http://eggnogapi.embl.de/nog_data/html/tree/KOG1162 epestfind swissprot:XPR1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:XPR1_HUMAN garnier swissprot:XPR1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:XPR1_HUMAN helixturnhelix swissprot:XPR1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:XPR1_HUMAN hmoment swissprot:XPR1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:XPR1_HUMAN iep swissprot:XPR1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:XPR1_HUMAN inforesidue swissprot:XPR1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:XPR1_HUMAN neXtProt NX_Q9UBH6 http://www.nextprot.org/db/entry/NX_Q9UBH6 octanol swissprot:XPR1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:XPR1_HUMAN pepcoil swissprot:XPR1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:XPR1_HUMAN pepdigest swissprot:XPR1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:XPR1_HUMAN pepinfo swissprot:XPR1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:XPR1_HUMAN pepnet swissprot:XPR1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:XPR1_HUMAN pepstats swissprot:XPR1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:XPR1_HUMAN pepwheel swissprot:XPR1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:XPR1_HUMAN pepwindow swissprot:XPR1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:XPR1_HUMAN sigcleave swissprot:XPR1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:XPR1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS ABCD3_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=P28288-1; Sequence=Displayed; Name=2; IsoId=P28288-2; Sequence=VSP_031189; Note=No experimental confirmation available.; Name=3; IsoId=P28288-3; Sequence=VSP_031187, VSP_031188; # AltName ABCD3_HUMAN 70 kDa peroxisomal membrane protein # BioGrid 111783 71 # CCDS CCDS44175 -. [P28288-3] # CCDS CCDS749 -. [P28288-1] # ChiTaRS ABCD3 human # DISEASE ABCD3_HUMAN Congenital bile acid synthesis defect 5 (CBAS5) [MIM 616278] An autosomal recessive disorder characterized by hepatosplenomegaly, hepatic fibrosis, progressive liver failure, and accumulation of peroxisomal C27-bile acid intermediates in plasma. {ECO 0000269|PubMed 25168382}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000315713 ENSP00000326880; ENSG00000117528. [P28288-3] # Ensembl ENST00000370214 ENSP00000359233; ENSG00000117528. [P28288-1] # FUNCTION ABCD3_HUMAN Probable transporter involved in the transport of branched-chain fatty acids and C27 bile acids into the peroxisome; the latter function is a crucial step in bile acid biosynthesis (PubMed 25168382). The nucleotide-binding fold acts as an ATP- binding subunit with ATPase activity (PubMed 11248239). {ECO 0000269|PubMed 11248239, ECO 0000269|PubMed 25168382}. # GO_component GO:0005743 mitochondrial inner membrane; IEA:Ensembl. # GO_component GO:0005777 peroxisome; IDA:UniProtKB. # GO_component GO:0005778 peroxisomal membrane; IDA:UniProtKB. # GO_component GO:0005782 peroxisomal matrix; IDA:UniProtKB. # GO_component GO:0005829 cytosol; TAS:Reactome. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0043231 intracellular membrane-bounded organelle; IDA:HPA. # GO_function GO:0005324 long-chain fatty acid transporter activity; TAS:Reactome. # GO_function GO:0005524 ATP binding; IDA:UniProtKB. # GO_function GO:0016887 ATPase activity; IDA:UniProtKB. # GO_function GO:0042626 ATPase activity, coupled to transmembrane movement of substances; IEA:InterPro. # GO_function GO:0042803 protein homodimerization activity; IDA:UniProtKB. # GO_process GO:0006633 fatty acid biosynthetic process; IMP:UniProtKB. # GO_process GO:0006635 fatty acid beta-oxidation; IGI:UniProtKB. # GO_process GO:0007031 peroxisome organization; IDA:UniProtKB. # GO_process GO:0014070 response to organic cyclic compound; IEA:Ensembl. # GO_process GO:0015910 peroxisomal long-chain fatty acid import; IEA:InterPro. # GO_process GO:0042493 response to drug; IEA:Ensembl. # GO_process GO:0042760 very long-chain fatty acid catabolic process; IGI:UniProtKB. # GO_process GO:0055085 transmembrane transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005777 peroxisome # GOslim_component GO:0005829 cytosol # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006629 lipid metabolic process # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0009056 catabolic process # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0044281 small molecule metabolic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 3.40.50.300 -; 1. # Genevisible P28288 HS # HGNC HGNC:67 ABCD3 # INTERACTION ABCD3_HUMAN P33897 ABCD1; NbExp=2; IntAct=EBI-80992, EBI-81045; P40855 PEX19; NbExp=4; IntAct=EBI-80992, EBI-594747; # IntAct P28288 38 # InterPro IPR003439 ABC_transporter-like # InterPro IPR003593 AAA+_ATPase # InterPro IPR005283 FA_transporter # InterPro IPR011527 ABC1_TM_dom # InterPro IPR017871 ABC_transporter_CS # InterPro IPR027417 P-loop_NTPase # InterPro IPR031241 ABCD3 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02000 Transporters # KEGG_Pathway ko02010 ABC transporters # KEGG_Pathway ko04146 Peroxisome # MIM 170995 gene # MIM 616278 phenotype # MISCELLANEOUS ABCD3_HUMAN Mutation in ABCD3 have been found in two individuals affected by Zellweger syndrome. However, the role of ABCD3 in the causation of Zellweger syndrome remains uncertain. # Organism ABCD3_HUMAN Homo sapiens (Human) # PANTHER PTHR11384:SF34 PTHR11384:SF34 # PIR S20313 S20313 # PROSITE PS00211 ABC_TRANSPORTER_1 # PROSITE PS50893 ABC_TRANSPORTER_2 # PROSITE PS50929 ABC_TM1F # Pfam PF00005 ABC_tran # Pfam PF06472 ABC_membrane_2 # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-1369062 ABC transporters in lipid homeostasis # RecName ABCD3_HUMAN ATP-binding cassette sub-family D member 3 # RefSeq NP_001116146 NM_001122674.1. [P28288-3] # RefSeq NP_002849 NM_002858.3. [P28288-1] # SIMILARITY Belongs to the ABC transporter superfamily. ABCD family. Peroxisomal fatty acyl CoA transporter (TC 3.A.1.203) subfamily. {ECO 0000305}. # SIMILARITY Contains 1 ABC transmembrane type-1 domain. {ECO:0000255|PROSITE-ProRule PRU00441}. # SIMILARITY Contains 1 ABC transporter domain. {ECO:0000255|PROSITE-ProRule PRU00434}. # SMART SM00382 AAA # SUBCELLULAR LOCATION ABCD3_HUMAN Peroxisome membrane {ECO 0000269|PubMed 10704444}; Multi-pass membrane protein {ECO 0000255|PROSITE-ProRule PRU00441, ECO 0000269|PubMed 10704444}. # SUBUNIT ABCD3_HUMAN Can form heterodimers with ABCD1/ALD and ABCD2/ALDR. Dimerization is necessary to form an active transporter. Interacts with PEX19. {ECO 0000269|PubMed 10551832, ECO 0000269|PubMed 10704444, ECO 0000269|PubMed 10777694}. # SUPFAM SSF52540 SSF52540 # SUPFAM SSF90123 SSF90123 # TCDB 3.A.1.203 the atp-binding cassette (abc) superfamily # TIGRFAMs TIGR00954 3a01203 # UCSC uc001dqm human. [P28288-1] # WEB RESOURCE ABCD3_HUMAN Name=ABCMdb; Note=Database for mutations in ABC proteins; URL="http //abcmutations.hegelab.org/proteinDetails?uniprot_id=P28288"; # eggNOG COG4178 LUCA # eggNOG KOG0064 Eukaryota BLAST swissprot:ABCD3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ABCD3_HUMAN BioCyc ZFISH:ENSG00000117528-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000117528-MONOMER COXPRESdb 5825 http://coxpresdb.jp/data/gene/5825.shtml CleanEx HS_ABCD3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ABCD3 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1006/bbrc.2000.2572 http://dx.doi.org/10.1006/bbrc.2000.2572 DOI 10.1006/geno.1997.5177 http://dx.doi.org/10.1006/geno.1997.5177 DOI 10.1016/0167-4781(92)90510-7 http://dx.doi.org/10.1016/0167-4781(92)90510-7 DOI 10.1016/S0014-5793(01)02235-9 http://dx.doi.org/10.1016/S0014-5793(01)02235-9 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1038/ng0492-16 http://dx.doi.org/10.1038/ng0492-16 DOI 10.1073/pnas.1210303109 http://dx.doi.org/10.1073/pnas.1210303109 DOI 10.1074/jbc.274.46.32738 http://dx.doi.org/10.1074/jbc.274.46.32738 DOI 10.1083/jcb.148.5.931 http://dx.doi.org/10.1083/jcb.148.5.931 DOI 10.1093/hmg/ddu448 http://dx.doi.org/10.1093/hmg/ddu448 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1175371 http://dx.doi.org/10.1126/science.1175371 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AC093117 http://www.ebi.ac.uk/ena/data/view/AC093117 EMBL AC118469 http://www.ebi.ac.uk/ena/data/view/AC118469 EMBL AL138758 http://www.ebi.ac.uk/ena/data/view/AL138758 EMBL BC009712 http://www.ebi.ac.uk/ena/data/view/BC009712 EMBL BC068509 http://www.ebi.ac.uk/ena/data/view/BC068509 EMBL BT006644 http://www.ebi.ac.uk/ena/data/view/BT006644 EMBL CH471097 http://www.ebi.ac.uk/ena/data/view/CH471097 EMBL CH471097 http://www.ebi.ac.uk/ena/data/view/CH471097 EMBL CH471097 http://www.ebi.ac.uk/ena/data/view/CH471097 EMBL CH471097 http://www.ebi.ac.uk/ena/data/view/CH471097 EMBL M81182 http://www.ebi.ac.uk/ena/data/view/M81182 EMBL X58528 http://www.ebi.ac.uk/ena/data/view/X58528 EMBL X83467 http://www.ebi.ac.uk/ena/data/view/X83467 EMBL X83468 http://www.ebi.ac.uk/ena/data/view/X83468 EMBL X83469 http://www.ebi.ac.uk/ena/data/view/X83469 EMBL X83470 http://www.ebi.ac.uk/ena/data/view/X83470 EMBL X83471 http://www.ebi.ac.uk/ena/data/view/X83471 EMBL X83472 http://www.ebi.ac.uk/ena/data/view/X83472 EMBL X83473 http://www.ebi.ac.uk/ena/data/view/X83473 EMBL X83474 http://www.ebi.ac.uk/ena/data/view/X83474 EMBL X83475 http://www.ebi.ac.uk/ena/data/view/X83475 EMBL X83476 http://www.ebi.ac.uk/ena/data/view/X83476 EMBL X83477 http://www.ebi.ac.uk/ena/data/view/X83477 EMBL X83478 http://www.ebi.ac.uk/ena/data/view/X83478 EMBL X83479 http://www.ebi.ac.uk/ena/data/view/X83479 EMBL X83480 http://www.ebi.ac.uk/ena/data/view/X83480 EMBL X83481 http://www.ebi.ac.uk/ena/data/view/X83481 EMBL X83482 http://www.ebi.ac.uk/ena/data/view/X83482 EMBL X83483 http://www.ebi.ac.uk/ena/data/view/X83483 EMBL X83484 http://www.ebi.ac.uk/ena/data/view/X83484 EMBL X83485 http://www.ebi.ac.uk/ena/data/view/X83485 EMBL X83486 http://www.ebi.ac.uk/ena/data/view/X83486 EMBL X83487 http://www.ebi.ac.uk/ena/data/view/X83487 EMBL X83488 http://www.ebi.ac.uk/ena/data/view/X83488 EMBL X83489 http://www.ebi.ac.uk/ena/data/view/X83489 Ensembl ENST00000315713 http://www.ensembl.org/id/ENST00000315713 Ensembl ENST00000370214 http://www.ensembl.org/id/ENST00000370214 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0005777 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005777 GO_component GO:0005778 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005778 GO_component GO:0005782 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005782 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0043231 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043231 GO_function GO:0005324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005324 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GO_function GO:0042626 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042626 GO_function GO:0042803 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042803 GO_process GO:0006633 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006633 GO_process GO:0006635 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006635 GO_process GO:0007031 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007031 GO_process GO:0014070 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014070 GO_process GO:0015910 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015910 GO_process GO:0042493 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042493 GO_process GO:0042760 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042760 GO_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005777 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005777 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006629 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006629 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0009056 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009056 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 3.40.50.300 http://www.cathdb.info/version/latest/superfamily/3.40.50.300 GeneCards ABCD3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ABCD3 GeneID 5825 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=5825 GeneTree ENSGT00390000003950 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000003950 HGNC HGNC:67 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:67 HOGENOM HOG000206081 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000206081&db=HOGENOM6 HOVERGEN HBG050438 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050438&db=HOVERGEN HPA CAB032516 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB032516 HPA CAB075749 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB075749 HPA HPA032026 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA032026 HPA HPA032027 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA032027 InParanoid P28288 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P28288 IntAct P28288 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P28288* InterPro IPR003439 http://www.ebi.ac.uk/interpro/entry/IPR003439 InterPro IPR003593 http://www.ebi.ac.uk/interpro/entry/IPR003593 InterPro IPR005283 http://www.ebi.ac.uk/interpro/entry/IPR005283 InterPro IPR011527 http://www.ebi.ac.uk/interpro/entry/IPR011527 InterPro IPR017871 http://www.ebi.ac.uk/interpro/entry/IPR017871 InterPro IPR027417 http://www.ebi.ac.uk/interpro/entry/IPR027417 InterPro IPR031241 http://www.ebi.ac.uk/interpro/entry/IPR031241 Jabion 5825 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=5825 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Gene hsa:5825 http://www.genome.jp/dbget-bin/www_bget?hsa:5825 KEGG_Orthology KO:K05677 http://www.genome.jp/dbget-bin/www_bget?KO:K05677 KEGG_Pathway ko02010 http://www.genome.jp/kegg-bin/show_pathway?ko02010 KEGG_Pathway ko04146 http://www.genome.jp/kegg-bin/show_pathway?ko04146 MIM 170995 http://www.ncbi.nlm.nih.gov/omim/170995 MIM 616278 http://www.ncbi.nlm.nih.gov/omim/616278 MINT MINT-3010926 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-3010926 OMA SMMAYLI http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=SMMAYLI OrthoDB EOG091G04M1 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G04M1 PANTHER PTHR11384:SF34 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11384:SF34 PROSITE PS00211 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00211 PROSITE PS50893 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50893 PROSITE PS50929 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50929 PSORT swissprot:ABCD3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ABCD3_HUMAN PSORT-B swissprot:ABCD3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ABCD3_HUMAN PSORT2 swissprot:ABCD3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ABCD3_HUMAN Pfam PF00005 http://pfam.xfam.org/family/PF00005 Pfam PF06472 http://pfam.xfam.org/family/PF06472 PharmGKB PA24402 http://www.pharmgkb.org/do/serve?objId=PA24402&objCls=Gene Phobius swissprot:ABCD3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ABCD3_HUMAN PhylomeDB P28288 http://phylomedb.org/?seqid=P28288 ProteinModelPortal P28288 http://www.proteinmodelportal.org/query/uniprot/P28288 PubMed 10551832 http://www.ncbi.nlm.nih.gov/pubmed/10551832 PubMed 10704444 http://www.ncbi.nlm.nih.gov/pubmed/10704444 PubMed 10777694 http://www.ncbi.nlm.nih.gov/pubmed/10777694 PubMed 11248239 http://www.ncbi.nlm.nih.gov/pubmed/11248239 PubMed 1301993 http://www.ncbi.nlm.nih.gov/pubmed/1301993 PubMed 1536884 http://www.ncbi.nlm.nih.gov/pubmed/1536884 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 19608861 http://www.ncbi.nlm.nih.gov/pubmed/19608861 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 22814378 http://www.ncbi.nlm.nih.gov/pubmed/22814378 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 25168382 http://www.ncbi.nlm.nih.gov/pubmed/25168382 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 9521874 http://www.ncbi.nlm.nih.gov/pubmed/9521874 Reactome R-HSA-1369062 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1369062 RefSeq NP_001116146 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001116146 RefSeq NP_002849 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_002849 SMART SM00382 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00382 STRING 9606.ENSP00000359233 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000359233&targetmode=cogs SUPFAM SSF52540 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52540 SUPFAM SSF90123 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF90123 TCDB 3.A.1.203 http://www.tcdb.org/search/result.php?tc=3.A.1.203 TIGRFAMs TIGR00954 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00954 UCSC uc001dqm http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001dqm&org=rat UniGene Hs.700576 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.700576 UniProtKB ABCD3_HUMAN http://www.uniprot.org/uniprot/ABCD3_HUMAN UniProtKB-AC P28288 http://www.uniprot.org/uniprot/P28288 charge swissprot:ABCD3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ABCD3_HUMAN eggNOG COG4178 http://eggnogapi.embl.de/nog_data/html/tree/COG4178 eggNOG KOG0064 http://eggnogapi.embl.de/nog_data/html/tree/KOG0064 epestfind swissprot:ABCD3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ABCD3_HUMAN garnier swissprot:ABCD3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ABCD3_HUMAN helixturnhelix swissprot:ABCD3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ABCD3_HUMAN hmoment swissprot:ABCD3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ABCD3_HUMAN iep swissprot:ABCD3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ABCD3_HUMAN inforesidue swissprot:ABCD3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ABCD3_HUMAN neXtProt NX_P28288 http://www.nextprot.org/db/entry/NX_P28288 octanol swissprot:ABCD3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ABCD3_HUMAN pepcoil swissprot:ABCD3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ABCD3_HUMAN pepdigest swissprot:ABCD3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ABCD3_HUMAN pepinfo swissprot:ABCD3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ABCD3_HUMAN pepnet swissprot:ABCD3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ABCD3_HUMAN pepstats swissprot:ABCD3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ABCD3_HUMAN pepwheel swissprot:ABCD3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ABCD3_HUMAN pepwindow swissprot:ABCD3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ABCD3_HUMAN sigcleave swissprot:ABCD3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ABCD3_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS ABCG4_HUMAN Event=Alternative splicing; Named isoforms=4; Name=1; Synonyms=B; IsoId=Q9H172-1; Sequence=Displayed; Name=2; Synonyms=T3, T4; IsoId=Q9H172-2; Sequence=VSP_054267; Name=3; Synonyms=M, T1; IsoId=Q9H172-3; Sequence=VSP_054268; Name=4; Synonyms=T2; IsoId=Q9H172-4; Sequence=VSP_054266; # CCDS CCDS8415 -. [Q9H172-1] # Ensembl ENST00000615496 ENSP00000479253; ENSG00000172350. [Q9H172-1] # Ensembl ENST00000619701 ENSP00000481728; ENSG00000172350. [Q9H172-1] # Ensembl ENST00000622721 ENSP00000484289; ENSG00000172350. [Q9H172-1] # ExpressionAtlas Q9H172 baseline and differential # FUNCTION ABCG4_HUMAN May be involved in macrophage lipid homeostasis. # GO_component GO:0005886 plasma membrane; IBA:GO_Central. # GO_component GO:0016021 integral component of membrane; IBA:GO_Central. # GO_function GO:0005524 ATP binding; IEA:UniProtKB-KW. # GO_function GO:0017127 cholesterol transporter activity; IBA:GO_Central. # GO_function GO:0034041 sterol-transporting ATPase activity; IBA:GO_Central. # GO_function GO:0042803 protein homodimerization activity; IDA:BHF-UCL. # GO_function GO:0046982 protein heterodimerization activity; IPI:BHF-UCL. # GO_process GO:0033344 cholesterol efflux; TAS:BHF-UCL. # GO_process GO:0055085 transmembrane transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0055085 transmembrane transport # Gene3D 3.40.50.300 -; 1. # Genevisible Q9H172 HS # HGNC HGNC:13884 ABCG4 # INTERACTION ABCG4_HUMAN P45844-4 ABCG1; NbExp=2; IntAct=EBI-8584118, EBI-8584087; # IntAct Q9H172 2 # InterPro IPR003439 ABC_transporter-like # InterPro IPR003593 AAA+_ATPase # InterPro IPR013525 ABC_2_trans # InterPro IPR017871 ABC_transporter_CS # InterPro IPR027417 P-loop_NTPase # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02000 Transporters # KEGG_Pathway ko02010 ABC transporters # MIM 607784 gene # Organism ABCG4_HUMAN Homo sapiens (Human) # PIR JC7777 JC7777 # PROSITE PS00211 ABC_TRANSPORTER_1 # PROSITE PS50893 ABC_TRANSPORTER_2 # Pfam PF00005 ABC_tran # Pfam PF01061 ABC2_membrane # Proteomes UP000005640 Chromosome 11 # Reactome R-HSA-1369062 ABC transporters in lipid homeostasis # RecName ABCG4_HUMAN ATP-binding cassette sub-family G member 4 # RefSeq NP_001135977 NM_001142505.1. [Q9H172-1] # RefSeq NP_071452 NM_022169.4. [Q9H172-1] # RefSeq XP_011541254 XM_011542952.2. [Q9H172-3] # RefSeq XP_016873610 XM_017018121.1. [Q9H172-2] # SIMILARITY Belongs to the ABC transporter superfamily. ABCG family. Eye pigment precursor importer (TC 3.A.1.204) subfamily. {ECO 0000305}. # SIMILARITY Contains 1 ABC transmembrane type-2 domain. {ECO 0000305}. # SIMILARITY Contains 1 ABC transporter domain. {ECO:0000255|PROSITE-ProRule PRU00434}. # SMART SM00382 AAA # SUBCELLULAR LOCATION ABCG4_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # SUPFAM SSF52540 SSF52540 # TCDB 3.A.1.204.20 the atp-binding cassette (abc) superfamily # TISSUE SPECIFICITY Highly expressed in brain tissues with the exception of the spinal cord. {ECO:0000269|PubMed 11856881}. # UCSC uc031yhk human. [Q9H172-1] # WEB RESOURCE ABCG4_HUMAN Name=ABCMdb; Note=Database for mutations in ABC proteins; URL="http //abcmutations.hegelab.org/proteinDetails?uniprot_id=Q9H172"; # eggNOG COG1131 LUCA # eggNOG KOG0061 Eukaryota BLAST swissprot:ABCG4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ABCG4_HUMAN BioCyc ZFISH:ENSG00000172350-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000172350-MONOMER COXPRESdb 64137 http://coxpresdb.jp/data/gene/64137.shtml CleanEx HS_ABCG4 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ABCG4 DOI 10.1006/bbrc.2001.5756 http://dx.doi.org/10.1006/bbrc.2001.5756 DOI 10.1016/S0167-4889(02)00269-0 http://dx.doi.org/10.1016/S0167-4889(02)00269-0 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AJ300465 http://www.ebi.ac.uk/ena/data/view/AJ300465 EMBL AJ308237 http://www.ebi.ac.uk/ena/data/view/AJ308237 EMBL AK289830 http://www.ebi.ac.uk/ena/data/view/AK289830 EMBL AK290035 http://www.ebi.ac.uk/ena/data/view/AK290035 EMBL AY055472 http://www.ebi.ac.uk/ena/data/view/AY055472 EMBL AY055472 http://www.ebi.ac.uk/ena/data/view/AY055472 EMBL AY055472 http://www.ebi.ac.uk/ena/data/view/AY055472 EMBL BC041091 http://www.ebi.ac.uk/ena/data/view/BC041091 EMBL CH471065 http://www.ebi.ac.uk/ena/data/view/CH471065 EMBL CH471065 http://www.ebi.ac.uk/ena/data/view/CH471065 EMBL CH471065 http://www.ebi.ac.uk/ena/data/view/CH471065 Ensembl ENST00000615496 http://www.ensembl.org/id/ENST00000615496 Ensembl ENST00000619701 http://www.ensembl.org/id/ENST00000619701 Ensembl ENST00000622721 http://www.ensembl.org/id/ENST00000622721 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0017127 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0017127 GO_function GO:0034041 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034041 GO_function GO:0042803 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042803 GO_function GO:0046982 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046982 GO_process GO:0033344 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033344 GO_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 3.40.50.300 http://www.cathdb.info/version/latest/superfamily/3.40.50.300 GeneCards ABCG4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ABCG4 GeneID 64137 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=64137 GeneTree ENSGT00740000114855 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00740000114855 HGNC HGNC:13884 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:13884 HOGENOM HOG000236364 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000236364&db=HOGENOM6 HOVERGEN HBG103052 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG103052&db=HOVERGEN HPA HPA040312 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA040312 InParanoid Q9H172 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9H172 IntAct Q9H172 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9H172* InterPro IPR003439 http://www.ebi.ac.uk/interpro/entry/IPR003439 InterPro IPR003593 http://www.ebi.ac.uk/interpro/entry/IPR003593 InterPro IPR013525 http://www.ebi.ac.uk/interpro/entry/IPR013525 InterPro IPR017871 http://www.ebi.ac.uk/interpro/entry/IPR017871 InterPro IPR027417 http://www.ebi.ac.uk/interpro/entry/IPR027417 Jabion 64137 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=64137 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Gene hsa:64137 http://www.genome.jp/dbget-bin/www_bget?hsa:64137 KEGG_Orthology KO:K05680 http://www.genome.jp/dbget-bin/www_bget?KO:K05680 KEGG_Pathway ko02010 http://www.genome.jp/kegg-bin/show_pathway?ko02010 MIM 607784 http://www.ncbi.nlm.nih.gov/omim/607784 MINT MINT-2840344 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-2840344 OMA APCPTCP http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=APCPTCP OrthoDB EOG091G050S http://cegg.unige.ch/orthodb/results?searchtext=EOG091G050S PROSITE PS00211 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00211 PROSITE PS50893 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50893 PSORT swissprot:ABCG4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ABCG4_HUMAN PSORT-B swissprot:ABCG4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ABCG4_HUMAN PSORT2 swissprot:ABCG4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ABCG4_HUMAN Pfam PF00005 http://pfam.xfam.org/family/PF00005 Pfam PF01061 http://pfam.xfam.org/family/PF01061 PharmGKB PA24410 http://www.pharmgkb.org/do/serve?objId=PA24410&objCls=Gene Phobius swissprot:ABCG4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ABCG4_HUMAN PhylomeDB Q9H172 http://phylomedb.org/?seqid=Q9H172 ProteinModelPortal Q9H172 http://www.proteinmodelportal.org/query/uniprot/Q9H172 PubMed 11606068 http://www.ncbi.nlm.nih.gov/pubmed/11606068 PubMed 11856881 http://www.ncbi.nlm.nih.gov/pubmed/11856881 PubMed 12183068 http://www.ncbi.nlm.nih.gov/pubmed/12183068 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 Reactome R-HSA-1369062 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1369062 RefSeq NP_001135977 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001135977 RefSeq NP_071452 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_071452 RefSeq XP_011541254 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011541254 RefSeq XP_016873610 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016873610 SMART SM00382 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00382 STRING 9606.ENSP00000304111 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000304111&targetmode=cogs SUPFAM SSF52540 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52540 TCDB 3.A.1.204.20 http://www.tcdb.org/search/result.php?tc=3.A.1.204.20 UCSC uc031yhk http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc031yhk&org=rat UniGene Hs.126378 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.126378 UniProtKB ABCG4_HUMAN http://www.uniprot.org/uniprot/ABCG4_HUMAN UniProtKB-AC Q9H172 http://www.uniprot.org/uniprot/Q9H172 charge swissprot:ABCG4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ABCG4_HUMAN eggNOG COG1131 http://eggnogapi.embl.de/nog_data/html/tree/COG1131 eggNOG KOG0061 http://eggnogapi.embl.de/nog_data/html/tree/KOG0061 epestfind swissprot:ABCG4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ABCG4_HUMAN garnier swissprot:ABCG4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ABCG4_HUMAN helixturnhelix swissprot:ABCG4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ABCG4_HUMAN hmoment swissprot:ABCG4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ABCG4_HUMAN iep swissprot:ABCG4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ABCG4_HUMAN inforesidue swissprot:ABCG4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ABCG4_HUMAN neXtProt NX_Q9H172 http://www.nextprot.org/db/entry/NX_Q9H172 octanol swissprot:ABCG4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ABCG4_HUMAN pepcoil swissprot:ABCG4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ABCG4_HUMAN pepdigest swissprot:ABCG4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ABCG4_HUMAN pepinfo swissprot:ABCG4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ABCG4_HUMAN pepnet swissprot:ABCG4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ABCG4_HUMAN pepstats swissprot:ABCG4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ABCG4_HUMAN pepwheel swissprot:ABCG4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ABCG4_HUMAN pepwindow swissprot:ABCG4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ABCG4_HUMAN sigcleave swissprot:ABCG4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ABCG4_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS Event=Alternative splicing; Named isoforms=5; Name=1; Synonyms=5-HT3R-AS; IsoId=P46098-1; Sequence=Displayed; Name=2; Synonyms=5-HT3R-AL; IsoId=P46098-2; Sequence=VSP_000078; Name=3; IsoId=P46098-3; Sequence=VSP_042214; Name=4; IsoId=P46098-4; Sequence=VSP_043484; Note=No experimental confirmation available.; Name=5; IsoId=P46098-5; Sequence=VSP_043484, VSP_000078; Note=No experimental confirmation available. Ref.7 (CD014118) sequence is in conflict in position: 342 C->W. {ECO:0000305}; # AltName 5HT3A_HUMAN 5-hydroxytryptamine receptor 3 # AltName 5HT3A_HUMAN Serotonin receptor 3A # AltName 5HT3A_HUMAN Serotonin-gated ion channel receptor # BioGrid 109591 97 # CCDS CCDS53710 -. [P46098-3] # CCDS CCDS8365 -. [P46098-4] # CCDS CCDS8366 -. [P46098-5] # DrugBank DB00246 Ziprasidone # DrugBank DB00333 Methadone # DrugBank DB00334 Olanzapine # DrugBank DB00363 Clozapine # DrugBank DB00370 Mirtazapine # DrugBank DB00377 Palonosetron # DrugBank DB00408 Loxapine # DrugBank DB00543 Amoxapine # DrugBank DB00604 Cisapride # DrugBank DB00721 Procaine # DrugBank DB00726 Trimipramine # DrugBank DB00728 Rocuronium # DrugBank DB00757 Dolasetron # DrugBank DB00889 Granisetron # DrugBank DB00898 Ethanol # DrugBank DB00904 Ondansetron # DrugBank DB00969 Alosetron # DrugBank DB01043 Memantine # DrugBank DB01049 Ergoloid mesylate # DrugBank DB01161 Chloroprocaine # DrugBank DB01199 Tubocurarine # DrugBank DB01224 Quetiapine # DrugBank DB01233 Metoclopramide # DrugBank DB01238 Aripiprazole # DrugBank DB06204 Tapentadol # DrugBank DB09068 Vortioxetine # Ensembl ENST00000299961 ENSP00000299961; ENSG00000166736. [P46098-3] # Ensembl ENST00000355556 ENSP00000347754; ENSG00000166736. [P46098-5] # Ensembl ENST00000375498 ENSP00000364648; ENSG00000166736. [P46098-4] # Ensembl ENST00000504030 ENSP00000424189; ENSG00000166736. [P46098-1] # Ensembl ENST00000506841 ENSP00000424776; ENSG00000166736. [P46098-2] # ExpressionAtlas P46098 baseline and differential # FUNCTION 5HT3A_HUMAN This is one of the several different receptors for 5- hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor is a ligand-gated ion channel, which when activated causes fast, depolarizing responses in neurons. It is a cation-specific, but otherwise relatively nonselective, ion channel. {ECO 0000269|PubMed 12867984, ECO 0000269|PubMed 9950429}. # GO_component GO:0005737 cytoplasm; IEA:Ensembl. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0030424 axon; IEA:Ensembl. # GO_component GO:0043025 neuronal cell body; IEA:Ensembl. # GO_component GO:0045211 postsynaptic membrane; IEA:UniProtKB-SubCell. # GO_component GO:1904602 serotonin-activated cation-selective channel complex; IDA:GO_Central. # GO_function GO:0005232 serotonin-activated cation-selective channel activity; IDA:GO_Central. # GO_function GO:0022850 serotonin-gated cation channel activity; IDA:MGI. # GO_function GO:0051378 serotonin binding; IDA:MGI. # GO_process GO:0032414 positive regulation of ion transmembrane transporter activity; IEA:Ensembl. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0042220 response to cocaine; IEA:Ensembl. # GO_process GO:0045471 response to ethanol; IEA:Ensembl. # GO_process GO:0071363 cellular response to growth factor stimulus; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0008150 biological_process # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.20.120.370 -; 2. # Gene3D 2.70.170.10 -; 1. # Genevisible P46098 HS # HGNC HGNC:5297 HTR3A # INTERACTION 5HT3A_HUMAN Q8WXA8 HTR3C; NbExp=5; IntAct=EBI-9008743, EBI-9008753; Q70Z44 HTR3D; NbExp=5; IntAct=EBI-9008743, EBI-9008717; A5X5Y0-1 HTR3E; NbExp=5; IntAct=EBI-9008743, EBI-11174612; A5X5Y0-3 HTR3E; NbExp=3; IntAct=EBI-9008743, EBI-11163690; # IntAct P46098 4 # InterPro IPR006029 Neurotrans-gated_channel_TM # InterPro IPR006201 Neur_channel # InterPro IPR006202 Neur_chan_lig-bd # InterPro IPR008132 5HT3_rcpt # InterPro IPR008133 5HT3_rcpt_A # InterPro IPR018000 Neurotransmitter_ion_chnl_CS # InterPro IPR027361 Acetylcholine_rcpt_TM # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04726 Serotonergic synapse # MIM 182139 gene # MISCELLANEOUS 5HT3A_HUMAN The HA-stretch region of HTR3A seems to be responsible for the low conductance of HTR3A homomers compared to that of HTR3A/HTR3B heteromers. # Organism 5HT3A_HUMAN Homo sapiens (Human) # PANTHER PTHR18945 PTHR18945 # PRINTS PR00252 NRIONCHANNEL # PRINTS PR01708 5HT3RECEPTOR # PRINTS PR01709 5HT3ARECEPTR # PROSITE PS00236 NEUROTR_ION_CHANNEL # Pfam PF02931 Neur_chan_LBD # Pfam PF02932 Neur_chan_memb # Proteomes UP000005640 Chromosome 11 # Reactome R-HSA-975298 Ligand-gated ion channel transport # RecName 5HT3A_HUMAN 5-hydroxytryptamine receptor 3A # RefSeq NP_000860 NM_000869.5. [P46098-4] # RefSeq NP_001155244 NM_001161772.2. [P46098-3] # RefSeq NP_998786 NM_213621.3. [P46098-5] # SIMILARITY Belongs to the ligand-gated ion channel (TC 1.A.9) family. 5-hydroxytryptamine receptor (TC 1.A.9.2) subfamily. HTR3A sub-subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION 5HT3A_HUMAN Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. # SUBUNIT 5HT3A_HUMAN Forms pentahomomeric complex as well as pentaheteromeric complex with HTR3B or HTR3C or HTR3D or HTR3E; homomeric complex is functional but exhibits low conductance with modified voltage dependence, and decreased agonist and antagonist affinity. Interacts with RIC3. {ECO 0000269|PubMed 10521471, ECO 0000269|PubMed 15809299, ECO 0000269|PubMed 17392525, ECO 0000269|PubMed 9950429}. # SUPFAM SSF63712 SSF63712 # SUPFAM SSF90112 SSF90112 # TCDB 1.A.9.2 the neurotransmitter receptor, cys loop, ligand-gated ion channel (lic) family # TIGRFAMs TIGR00860 LIC # TISSUE SPECIFICITY Expressed in cerebral cortex, amygdala, hippocampus, and testis. Detected in monocytes of the spleen and tonsil, in small and large intestine, uterus, prostate, ovary and placenta. {ECO:0000269|PubMed 10521471}. # UCSC uc010rxa human. [P46098-1] BLAST swissprot:5HT3A_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:5HT3A_HUMAN BioCyc ZFISH:ENSG00000166736-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000166736-MONOMER COXPRESdb 3359 http://coxpresdb.jp/data/gene/3359.shtml CleanEx HS_HTR3A http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_HTR3A DOI 10.1007/s10067-004-0927-2 http://dx.doi.org/10.1007/s10067-004-0927-2 DOI 10.1016/S0028-3908(99)00116-1 http://dx.doi.org/10.1016/S0028-3908(99)00116-1 DOI 10.1016/j.biopsych.2005.11.008 http://dx.doi.org/10.1016/j.biopsych.2005.11.008 DOI 10.1016/j.ygeno.2003.09.023 http://dx.doi.org/10.1016/j.ygeno.2003.09.023 DOI 10.1038/16941 http://dx.doi.org/10.1038/16941 DOI 10.1038/nature01788 http://dx.doi.org/10.1038/nature01788 DOI 10.1038/nature04632 http://dx.doi.org/10.1038/nature04632 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.274.43.30799 http://dx.doi.org/10.1074/jbc.274.43.30799 DOI 10.1074/jbc.M414341200 http://dx.doi.org/10.1074/jbc.M414341200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1749-6632.1998.tb10196.x http://dx.doi.org/10.1111/j.1749-6632.1998.tb10196.x DOI 10.1124/mol.106.032144 http://dx.doi.org/10.1124/mol.106.032144 DrugBank DB00246 http://www.drugbank.ca/drugs/DB00246 DrugBank DB00333 http://www.drugbank.ca/drugs/DB00333 DrugBank DB00334 http://www.drugbank.ca/drugs/DB00334 DrugBank DB00363 http://www.drugbank.ca/drugs/DB00363 DrugBank DB00370 http://www.drugbank.ca/drugs/DB00370 DrugBank DB00377 http://www.drugbank.ca/drugs/DB00377 DrugBank DB00408 http://www.drugbank.ca/drugs/DB00408 DrugBank DB00543 http://www.drugbank.ca/drugs/DB00543 DrugBank DB00604 http://www.drugbank.ca/drugs/DB00604 DrugBank DB00721 http://www.drugbank.ca/drugs/DB00721 DrugBank DB00726 http://www.drugbank.ca/drugs/DB00726 DrugBank DB00728 http://www.drugbank.ca/drugs/DB00728 DrugBank DB00757 http://www.drugbank.ca/drugs/DB00757 DrugBank DB00889 http://www.drugbank.ca/drugs/DB00889 DrugBank DB00898 http://www.drugbank.ca/drugs/DB00898 DrugBank DB00904 http://www.drugbank.ca/drugs/DB00904 DrugBank DB00969 http://www.drugbank.ca/drugs/DB00969 DrugBank DB01043 http://www.drugbank.ca/drugs/DB01043 DrugBank DB01049 http://www.drugbank.ca/drugs/DB01049 DrugBank DB01161 http://www.drugbank.ca/drugs/DB01161 DrugBank DB01199 http://www.drugbank.ca/drugs/DB01199 DrugBank DB01224 http://www.drugbank.ca/drugs/DB01224 DrugBank DB01233 http://www.drugbank.ca/drugs/DB01233 DrugBank DB01238 http://www.drugbank.ca/drugs/DB01238 DrugBank DB06204 http://www.drugbank.ca/drugs/DB06204 DrugBank DB09068 http://www.drugbank.ca/drugs/DB09068 EMBL AF498984 http://www.ebi.ac.uk/ena/data/view/AF498984 EMBL AJ003078 http://www.ebi.ac.uk/ena/data/view/AJ003078 EMBL AJ003079 http://www.ebi.ac.uk/ena/data/view/AJ003079 EMBL AJ005205 http://www.ebi.ac.uk/ena/data/view/AJ005205 EMBL AK299973 http://www.ebi.ac.uk/ena/data/view/AK299973 EMBL AP000908 http://www.ebi.ac.uk/ena/data/view/AP000908 EMBL BC002354 http://www.ebi.ac.uk/ena/data/view/BC002354 EMBL BC004453 http://www.ebi.ac.uk/ena/data/view/BC004453 EMBL BT007204 http://www.ebi.ac.uk/ena/data/view/BT007204 EMBL CD014118 http://www.ebi.ac.uk/ena/data/view/CD014118 EMBL CH471065 http://www.ebi.ac.uk/ena/data/view/CH471065 EMBL CH471065 http://www.ebi.ac.uk/ena/data/view/CH471065 EMBL D49394 http://www.ebi.ac.uk/ena/data/view/D49394 EMBL S82612 http://www.ebi.ac.uk/ena/data/view/S82612 Ensembl ENST00000299961 http://www.ensembl.org/id/ENST00000299961 Ensembl ENST00000355556 http://www.ensembl.org/id/ENST00000355556 Ensembl ENST00000375498 http://www.ensembl.org/id/ENST00000375498 Ensembl ENST00000504030 http://www.ensembl.org/id/ENST00000504030 Ensembl ENST00000506841 http://www.ensembl.org/id/ENST00000506841 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0030424 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030424 GO_component GO:0043025 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043025 GO_component GO:0045211 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045211 GO_component GO:1904602 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1904602 GO_function GO:0005232 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005232 GO_function GO:0022850 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022850 GO_function GO:0051378 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051378 GO_process GO:0032414 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032414 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0042220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042220 GO_process GO:0045471 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045471 GO_process GO:0071363 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071363 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.20.120.370 http://www.cathdb.info/version/latest/superfamily/1.20.120.370 Gene3D 2.70.170.10 http://www.cathdb.info/version/latest/superfamily/2.70.170.10 GeneCards HTR3A http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=HTR3A GeneID 3359 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=3359 GeneTree ENSGT00790000122957 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00790000122957 HGNC HGNC:5297 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:5297 HOGENOM HOG000241519 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000241519&db=HOGENOM6 HOVERGEN HBG106638 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG106638&db=HOVERGEN InParanoid P46098 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P46098 IntAct P46098 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P46098* InterPro IPR006029 http://www.ebi.ac.uk/interpro/entry/IPR006029 InterPro IPR006201 http://www.ebi.ac.uk/interpro/entry/IPR006201 InterPro IPR006202 http://www.ebi.ac.uk/interpro/entry/IPR006202 InterPro IPR008132 http://www.ebi.ac.uk/interpro/entry/IPR008132 InterPro IPR008133 http://www.ebi.ac.uk/interpro/entry/IPR008133 InterPro IPR018000 http://www.ebi.ac.uk/interpro/entry/IPR018000 InterPro IPR027361 http://www.ebi.ac.uk/interpro/entry/IPR027361 Jabion 3359 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=3359 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:3359 http://www.genome.jp/dbget-bin/www_bget?hsa:3359 KEGG_Orthology KO:K04819 http://www.genome.jp/dbget-bin/www_bget?KO:K04819 KEGG_Pathway ko04726 http://www.genome.jp/kegg-bin/show_pathway?ko04726 MIM 182139 http://www.ncbi.nlm.nih.gov/omim/182139 OMA HGEVQNY http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=HGEVQNY OrthoDB EOG091G06Q8 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G06Q8 PANTHER PTHR18945 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR18945 PRINTS PR00252 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00252 PRINTS PR01708 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01708 PRINTS PR01709 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01709 PROSITE PS00236 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00236 PSORT swissprot:5HT3A_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:5HT3A_HUMAN PSORT-B swissprot:5HT3A_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:5HT3A_HUMAN PSORT2 swissprot:5HT3A_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:5HT3A_HUMAN Pfam PF02931 http://pfam.xfam.org/family/PF02931 Pfam PF02932 http://pfam.xfam.org/family/PF02932 PharmGKB PA29555 http://www.pharmgkb.org/do/serve?objId=PA29555&objCls=Gene Phobius swissprot:5HT3A_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:5HT3A_HUMAN PhylomeDB P46098 http://phylomedb.org/?seqid=P46098 ProteinModelPortal P46098 http://www.proteinmodelportal.org/query/uniprot/P46098 PubMed 10521471 http://www.ncbi.nlm.nih.gov/pubmed/10521471 PubMed 10670426 http://www.ncbi.nlm.nih.gov/pubmed/10670426 PubMed 12867984 http://www.ncbi.nlm.nih.gov/pubmed/12867984 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15028279 http://www.ncbi.nlm.nih.gov/pubmed/15028279 PubMed 15293096 http://www.ncbi.nlm.nih.gov/pubmed/15293096 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15809299 http://www.ncbi.nlm.nih.gov/pubmed/15809299 PubMed 16487942 http://www.ncbi.nlm.nih.gov/pubmed/16487942 PubMed 16554811 http://www.ncbi.nlm.nih.gov/pubmed/16554811 PubMed 17392525 http://www.ncbi.nlm.nih.gov/pubmed/17392525 PubMed 7565620 http://www.ncbi.nlm.nih.gov/pubmed/7565620 PubMed 8848005 http://www.ncbi.nlm.nih.gov/pubmed/8848005 PubMed 9928262 http://www.ncbi.nlm.nih.gov/pubmed/9928262 PubMed 9950429 http://www.ncbi.nlm.nih.gov/pubmed/9950429 Reactome R-HSA-975298 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-975298 RefSeq NP_000860 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000860 RefSeq NP_001155244 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001155244 RefSeq NP_998786 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_998786 SMR P46098 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P46098 SUPFAM SSF63712 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF63712 SUPFAM SSF90112 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF90112 TCDB 1.A.9.2 http://www.tcdb.org/search/result.php?tc=1.A.9.2 TIGRFAMs TIGR00860 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00860 UCSC uc010rxa http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc010rxa&org=rat UniGene Hs.413899 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.413899 UniProtKB 5HT3A_HUMAN http://www.uniprot.org/uniprot/5HT3A_HUMAN UniProtKB-AC P46098 http://www.uniprot.org/uniprot/P46098 charge swissprot:5HT3A_HUMAN http://rest.g-language.org/emboss/charge/swissprot:5HT3A_HUMAN epestfind swissprot:5HT3A_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:5HT3A_HUMAN garnier swissprot:5HT3A_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:5HT3A_HUMAN helixturnhelix swissprot:5HT3A_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:5HT3A_HUMAN hmoment swissprot:5HT3A_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:5HT3A_HUMAN iep swissprot:5HT3A_HUMAN http://rest.g-language.org/emboss/iep/swissprot:5HT3A_HUMAN inforesidue swissprot:5HT3A_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:5HT3A_HUMAN neXtProt NX_P46098 http://www.nextprot.org/db/entry/NX_P46098 octanol swissprot:5HT3A_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:5HT3A_HUMAN pepcoil swissprot:5HT3A_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:5HT3A_HUMAN pepdigest swissprot:5HT3A_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:5HT3A_HUMAN pepinfo swissprot:5HT3A_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:5HT3A_HUMAN pepnet swissprot:5HT3A_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:5HT3A_HUMAN pepstats swissprot:5HT3A_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:5HT3A_HUMAN pepwheel swissprot:5HT3A_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:5HT3A_HUMAN pepwindow swissprot:5HT3A_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:5HT3A_HUMAN sigcleave swissprot:5HT3A_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:5HT3A_HUMAN ## Database ID URL or Descriptions # AltName ZNT3_HUMAN Solute carrier family 30 member 3 # BioGrid 113562 2 # Ensembl ENST00000233535 ENSP00000233535; ENSG00000115194 # ExpressionAtlas Q99726 baseline and differential # FUNCTION ZNT3_HUMAN Involved in accumulation of zinc in synaptic vesicles. {ECO 0000250|UniProtKB P97441}. # GO_component GO:0005737 cytoplasm; IDA:BHF-UCL. # GO_component GO:0005765 lysosomal membrane; IEA:UniProtKB-SubCell. # GO_component GO:0005768 endosome; TAS:ProtInc. # GO_component GO:0005770 late endosome; IDA:BHF-UCL. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0008021 synaptic vesicle; TAS:ProtInc. # GO_component GO:0016020 membrane; TAS:ProtInc. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0030672 synaptic vesicle membrane; IEA:UniProtKB-SubCell. # GO_component GO:0031902 late endosome membrane; IEA:UniProtKB-SubCell. # GO_component GO:0043005 neuron projection; ISS:UniProtKB. # GO_function GO:0015633 zinc-transporting ATPase activity; TAS:ProtInc. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0010043 response to zinc ion; IBA:GO_Central. # GO_process GO:0051050 positive regulation of transport; IEA:Ensembl. # GO_process GO:0061088 regulation of sequestering of zinc ion; IDA:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005768 endosome # GOslim_component GO:0031410 cytoplasmic vesicle # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # Gene3D 1.20.1510.10 -; 1. # Genevisible Q99726 HS # HGNC HGNC:11014 SLC30A3 # INTERACTION ZNT3_HUMAN Q58DX5 NAALADL2; NbExp=3; IntAct=EBI-10294651, EBI-10178964; # IntAct Q99726 2 # InterPro IPR002524 Cation_efflux # InterPro IPR027469 Cation_efflux_TMD # KEGG_Brite ko02001 Solute carrier family # MIM 602878 gene # Organism ZNT3_HUMAN Homo sapiens (Human) # PANTHER PTHR11562 PTHR11562 # Pfam PF01545 Cation_efflux # Proteomes UP000005640 Chromosome 2 # Reactome R-HSA-435368 Zinc efflux and compartmentalization by the SLC30 family # RecName ZNT3_HUMAN Zinc transporter 3 # RefSeq NP_001305878 NM_001318949.1 # RefSeq NP_001305879 NM_001318950.1 # RefSeq NP_001305880 NM_001318951.1 # RefSeq NP_003450 NM_003459.4 # SIMILARITY Belongs to the cation diffusion facilitator (CDF) transporter (TC 2.A.4) family. SLC30A subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION ZNT3_HUMAN Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO 0000250|UniProtKB P97441}; Multi- pass membrane protein {ECO 0000255}. Cell junction, synapse, synaptosome {ECO 0000250|UniProtKB P97441}. Late endosome membrane {ECO 0000269|PubMed 17349999}; Multi-pass membrane protein {ECO 0000255}. Lysosome membrane {ECO 0000269|PubMed 17349999}; Multi-pass membrane protein {ECO 0000255}. # TCDB 2.A.4.3 the cation diffusion facilitator (cdf) family # TIGRFAMs TIGR01297 CDF # UCSC uc002rjk human # eggNOG COG1230 LUCA # eggNOG KOG1482 Eukaryota BLAST swissprot:ZNT3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ZNT3_HUMAN BioCyc ZFISH:ENSG00000115194-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000115194-MONOMER COXPRESdb 7781 http://coxpresdb.jp/data/gene/7781.shtml CleanEx HS_SLC30A3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC30A3 DOI 10.1016/j.yexcr.2007.02.006 http://dx.doi.org/10.1016/j.yexcr.2007.02.006 DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.93.25.14934 http://dx.doi.org/10.1073/pnas.93.25.14934 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AC013413 http://www.ebi.ac.uk/ena/data/view/AC013413 EMBL AK313600 http://www.ebi.ac.uk/ena/data/view/AK313600 EMBL BC028358 http://www.ebi.ac.uk/ena/data/view/BC028358 EMBL U76010 http://www.ebi.ac.uk/ena/data/view/U76010 Ensembl ENST00000233535 http://www.ensembl.org/id/ENST00000233535 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005765 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005765 GO_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GO_component GO:0005770 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005770 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0008021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008021 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0030672 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030672 GO_component GO:0031902 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031902 GO_component GO:0043005 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043005 GO_function GO:0015633 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015633 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0010043 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010043 GO_process GO:0051050 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051050 GO_process GO:0061088 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061088 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GOslim_component GO:0031410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 Gene3D 1.20.1510.10 http://www.cathdb.info/version/latest/superfamily/1.20.1510.10 GeneCards SLC30A3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC30A3 GeneID 7781 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=7781 GeneTree ENSGT00550000074381 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074381 H-InvDB HIX0001914 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0001914 HGNC HGNC:11014 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11014 HOGENOM HOG000079023 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000079023&db=HOGENOM6 HOVERGEN HBG003345 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG003345&db=HOVERGEN HPA HPA060505 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA060505 HPA HPA067637 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA067637 InParanoid Q99726 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q99726 IntAct Q99726 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q99726* InterPro IPR002524 http://www.ebi.ac.uk/interpro/entry/IPR002524 InterPro IPR027469 http://www.ebi.ac.uk/interpro/entry/IPR027469 Jabion 7781 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=7781 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:7781 http://www.genome.jp/dbget-bin/www_bget?hsa:7781 KEGG_Orthology KO:K14690 http://www.genome.jp/dbget-bin/www_bget?KO:K14690 MIM 602878 http://www.ncbi.nlm.nih.gov/omim/602878 OMA AQCLRCR http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=AQCLRCR OrthoDB EOG091G07UN http://cegg.unige.ch/orthodb/results?searchtext=EOG091G07UN PANTHER PTHR11562 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11562 PSORT swissprot:ZNT3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ZNT3_HUMAN PSORT-B swissprot:ZNT3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ZNT3_HUMAN PSORT2 swissprot:ZNT3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ZNT3_HUMAN Pfam PF01545 http://pfam.xfam.org/family/PF01545 PharmGKB PA35884 http://www.pharmgkb.org/do/serve?objId=PA35884&objCls=Gene Phobius swissprot:ZNT3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ZNT3_HUMAN PhylomeDB Q99726 http://phylomedb.org/?seqid=Q99726 ProteinModelPortal Q99726 http://www.proteinmodelportal.org/query/uniprot/Q99726 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 PubMed 17349999 http://www.ncbi.nlm.nih.gov/pubmed/17349999 PubMed 8962159 http://www.ncbi.nlm.nih.gov/pubmed/8962159 Reactome R-HSA-435368 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-435368 RefSeq NP_001305878 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001305878 RefSeq NP_001305879 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001305879 RefSeq NP_001305880 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001305880 RefSeq NP_003450 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_003450 STRING 9606.ENSP00000233535 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000233535&targetmode=cogs TCDB 2.A.4.3 http://www.tcdb.org/search/result.php?tc=2.A.4.3 TIGRFAMs TIGR01297 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01297 UCSC uc002rjk http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002rjk&org=rat UniGene Hs.467981 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.467981 UniProtKB ZNT3_HUMAN http://www.uniprot.org/uniprot/ZNT3_HUMAN UniProtKB-AC Q99726 http://www.uniprot.org/uniprot/Q99726 charge swissprot:ZNT3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ZNT3_HUMAN eggNOG COG1230 http://eggnogapi.embl.de/nog_data/html/tree/COG1230 eggNOG KOG1482 http://eggnogapi.embl.de/nog_data/html/tree/KOG1482 epestfind swissprot:ZNT3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ZNT3_HUMAN garnier swissprot:ZNT3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ZNT3_HUMAN helixturnhelix swissprot:ZNT3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ZNT3_HUMAN hmoment swissprot:ZNT3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ZNT3_HUMAN iep swissprot:ZNT3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ZNT3_HUMAN inforesidue swissprot:ZNT3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ZNT3_HUMAN neXtProt NX_Q99726 http://www.nextprot.org/db/entry/NX_Q99726 octanol swissprot:ZNT3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ZNT3_HUMAN pepcoil swissprot:ZNT3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ZNT3_HUMAN pepdigest swissprot:ZNT3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ZNT3_HUMAN pepinfo swissprot:ZNT3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ZNT3_HUMAN pepnet swissprot:ZNT3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ZNT3_HUMAN pepstats swissprot:ZNT3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ZNT3_HUMAN pepwheel swissprot:ZNT3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ZNT3_HUMAN pepwindow swissprot:ZNT3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ZNT3_HUMAN sigcleave swissprot:ZNT3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ZNT3_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S22A1_HUMAN Event=Alternative splicing; Named isoforms=4; Name=1; Synonyms=hOCT1G/L554; IsoId=O15245-1; Sequence=Displayed; Name=2; Synonyms=hOCT1G/L506; IsoId=O15245-2; Sequence=VSP_033589, VSP_033590; Name=3; Synonyms=hOCT1G483; IsoId=O15245-3; Sequence=VSP_033588; Name=4; Synonyms=hOCT1G353; IsoId=O15245-4; Sequence=VSP_033587; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; # AltName S22A1_HUMAN Organic cation transporter 1 # BIOPHYSICOCHEMICAL PROPERTIES S22A1_HUMAN Kinetic parameters KM=1.47 mM for metformin {ECO 0000269|PubMed 16272756, ECO 0000269|PubMed 9187257, ECO 0000269|PubMed 9655880}; KM=229 uM for TEA {ECO 0000269|PubMed 16272756, ECO 0000269|PubMed 9187257, ECO 0000269|PubMed 9655880}; KM=14.6 uM for MPP {ECO 0000269|PubMed 16272756, ECO 0000269|PubMed 9187257, ECO 0000269|PubMed 9655880}; Vmax=396 pmol/min/mg enzyme for metformin uptake {ECO 0000269|PubMed 16272756, ECO 0000269|PubMed 9187257, ECO 0000269|PubMed 9655880}; Vmax=2.89 nmol/min/mg enzyme for TEA uptake {ECO 0000269|PubMed 16272756, ECO 0000269|PubMed 9187257, ECO 0000269|PubMed 9655880}; # CCDS CCDS5274 -. [O15245-1] # CCDS CCDS5275 -. [O15245-2] # CDD cd06174 MFS # DrugBank DB00122 Choline # DrugBank DB00127 Spermine # DrugBank DB00152 Thiamine # DrugBank DB00184 Nicotine # DrugBank DB00206 Reserpine # DrugBank DB00220 Nelfinavir # DrugBank DB00224 Indinavir # DrugBank DB00242 Cladribine # DrugBank DB00280 Disopyramide # DrugBank DB00318 Codeine # DrugBank DB00331 Metformin # DrugBank DB00345 Aminohippurate # DrugBank DB00368 Norepinephrine # DrugBank DB00396 Progesterone # DrugBank DB00406 Gentian Violet # DrugBank DB00413 Pramipexole # DrugBank DB00457 Prazosin # DrugBank DB00458 Imipramine # DrugBank DB00468 Quinine # DrugBank DB00477 Chlorpromazine # DrugBank DB00501 Cimetidine # DrugBank DB00520 Caspofungin # DrugBank DB00526 Oxaliplatin # DrugBank DB00536 Guanidine # DrugBank DB00575 Clonidine # DrugBank DB00594 Amiloride # DrugBank DB00619 Imatinib # DrugBank DB00624 Testosterone # DrugBank DB00654 Latanoprost # DrugBank DB00661 Verapamil # DrugBank DB00667 Histamine Phosphate # DrugBank DB00668 Epinephrine # DrugBank DB00683 Midazolam # DrugBank DB00709 Lamivudine # DrugBank DB00728 Rocuronium # DrugBank DB00783 Estradiol # DrugBank DB00787 Aciclovir # DrugBank DB00863 Ranitidine # DrugBank DB00908 Quinidine # DrugBank DB00914 Phenformin # DrugBank DB00915 Amantadine # DrugBank DB00917 Dinoprostone # DrugBank DB00925 Phenoxybenzamine # DrugBank DB00987 Cytarabine # DrugBank DB00988 Dopamine # DrugBank DB01004 Ganciclovir # DrugBank DB01032 Probenecid # DrugBank DB01035 Procainamide # DrugBank DB01075 Diphenhydramine # DrugBank DB01114 Chlorphenamine # DrugBank DB01151 Desipramine # DrugBank DB01193 Acebutolol # DrugBank DB01199 Tubocurarine # DrugBank DB01232 Saquinavir # DrugBank DB01337 Pancuronium # DrugBank DB01339 Vecuronium # DrugBank DB01614 Acepromazine # DrugBank DB01621 Pipotiazine # DrugBank DB01622 Thioproperazine # DrugBank DB01623 Thiothixene # DrugBank DB03128 Acetylcholine # DrugBank DB04574 Estropipate # Ensembl ENST00000324965 ENSP00000318103; ENSG00000175003. [O15245-2] # Ensembl ENST00000366963 ENSP00000355930; ENSG00000175003. [O15245-1] # Ensembl ENST00000457470 ENSP00000409557; ENSG00000175003. [O15245-3] # Ensembl ENST00000460902 ENSP00000439274; ENSG00000175003. [O15245-4] # ExpressionAtlas O15245 baseline and differential # FUNCTION S22A1_HUMAN Translocates a broad array of organic cations with various structures and molecular weights including the model compounds 1-methyl-4-phenylpyridinium (MPP), tetraethylammonium (TEA), N-1-methylnicotinamide (NMN), 4-(4-(dimethylamino)styryl)- N-methylpyridinium (ASP), the endogenous compounds choline, guanidine, histamine, epinephrine, adrenaline, noradrenaline and dopamine, and the drugs quinine, and metformin. The transport of organic cations is inhibited by a broad array of compounds like tetramethylammonium (TMA), cocaine, lidocaine, NMDA receptor antagonists, atropine, prazosin, cimetidine, TEA and NMN, guanidine, cimetidine, choline, procainamide, quinine, tetrabutylammonium, and tetrapentylammonium. Translocates organic cations in an electrogenic and pH-independent manner. Translocates organic cations across the plasma membrane in both directions. Transports the polyamines spermine and spermidine. Transports pramipexole across the basolateral membrane of the proximal tubular epithelial cells. The choline transport is activated by MMTS. Regulated by various intracellular signaling pathways including inhibition by protein kinase A activation, and endogenously activation by the calmodulin complex, the calmodulin- dependent kinase II and LCK tyrosine kinase. {ECO 0000269|PubMed 11388889, ECO 0000269|PubMed 11408531, ECO 0000269|PubMed 15389554, ECO 0000269|PubMed 16272756, ECO 0000269|PubMed 16581093, ECO 0000269|PubMed 9187257, ECO 0000269|PubMed 9260930, ECO 0000269|PubMed 9655880}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:UniProtKB. # GO_component GO:0016020 membrane; TAS:UniProtKB. # GO_component GO:0016323 basolateral plasma membrane; IEA:UniProtKB-SubCell. # GO_function GO:0005277 acetylcholine transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0005329 dopamine transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0005333 norepinephrine transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0008513 secondary active organic cation transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015101 organic cation transmembrane transporter activity; TAS:UniProtKB. # GO_function GO:0015651 quaternary ammonium group transmembrane transporter activity; IBA:GO_Central. # GO_process GO:0006836 neurotransmitter transport; IBA:GO_Central. # GO_process GO:0006855 drug transmembrane transport; TAS:Reactome. # GO_process GO:0010248 establishment or maintenance of transmembrane electrochemical gradient; IEA:Ensembl. # GO_process GO:0015695 organic cation transport; TAS:UniProtKB. # GO_process GO:0015872 dopamine transport; IBA:GO_Central. # GO_process GO:0015874 norepinephrine transport; IBA:GO_Central. # GO_process GO:0048241 epinephrine transport; IEA:Ensembl. # GO_process GO:0051260 protein homooligomerization; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # GOslim_process GO:0055085 transmembrane transport # Genevisible O15245 HS # HGNC HGNC:10963 SLC22A1 # INDUCTION S22A1_HUMAN In the liver activated by HNF4A and suppressed by bile acids via NR0B2. Increased by cholesterol treatment in hepatocyte cells. {ECO 0000269|PubMed 16436500, ECO 0000269|PubMed 17635184}. # INTERACTION S22A1_HUMAN Q96G23 CERS2; NbExp=3; IntAct=EBI-1172714, EBI-1057080; # InterPro IPR004749 Orgcat_transp/SVOP # InterPro IPR005828 MFS_sugar_transport-like # InterPro IPR005829 Sugar_transporter_CS # InterPro IPR020846 MFS_dom # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02000 Transporters # KEGG_Brite ko02001 Solute carrier family # KEGG_Pathway ko04976 Bile secretion # MIM 602607 gene # Organism S22A1_HUMAN Homo sapiens (Human) # PROSITE PS00216 SUGAR_TRANSPORT_1 # PROSITE PS50850 MFS # PTM S22A1_HUMAN Phosphorylated. {ECO 0000250}. # Pfam PF00083 Sugar_tr; 2 # Proteomes UP000005640 Chromosome 6 # Reactome R-HSA-112311 Neurotransmitter Clearance In The Synaptic Cleft # Reactome R-HSA-181430 Norepinephrine Neurotransmitter Release Cycle # Reactome R-HSA-2161517 Abacavir transmembrane transport # Reactome R-HSA-442660 Na+/Cl- dependent neurotransmitter transporters # Reactome R-HSA-549127 Organic cation transport # RecName S22A1_HUMAN Solute carrier family 22 member 1 # RefSeq NP_003048 NM_003057.2. [O15245-1] # RefSeq NP_694857 NM_153187.1. [O15245-2] # RefSeq XP_006715615 XM_006715552.1. [O15245-3] # SIMILARITY Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family. {ECO 0000305}. # SUBCELLULAR LOCATION S22A1_HUMAN Basolateral cell membrane {ECO 0000269|PubMed 16263091}; Multi-pass membrane protein {ECO 0000269|PubMed 16263091}. # SUPFAM SSF103473 SSF103473 # TCDB 2.A.1.19.29 the major facilitator superfamily (mfs) # TIGRFAMs TIGR00898 2A0119 # TISSUE SPECIFICITY S22A1_HUMAN Widely expressed with high level in liver. Isoform 1 and isoform 2 are expressed in liver. Isoform 1, isoform 2, isoform 3 and isoform 4 are expressed in glial cell lines. {ECO 0000269|PubMed 11388889, ECO 0000269|PubMed 9187257, ECO 0000269|PubMed 9260930}. # UCSC uc003qtc human. [O15245-1] # eggNOG COG0477 LUCA # eggNOG KOG0255 Eukaryota BLAST swissprot:S22A1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S22A1_HUMAN COXPRESdb 6580 http://coxpresdb.jp/data/gene/6580.shtml CleanEx HS_SLC22A1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC22A1 DOI 10.1002/jcp.20081 http://dx.doi.org/10.1002/jcp.20081 DOI 10.1016/j.bbrc.2003.11.175 http://dx.doi.org/10.1016/j.bbrc.2003.11.175 DOI 10.1016/j.bcp.2005.09.011 http://dx.doi.org/10.1016/j.bcp.2005.09.011 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1016/j.neuropharm.2006.01.005 http://dx.doi.org/10.1016/j.neuropharm.2006.01.005 DOI 10.1038/nature02055 http://dx.doi.org/10.1038/nature02055 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1046/j.1469-1809.2000.6430267.x http://dx.doi.org/10.1046/j.1469-1809.2000.6430267.x DOI 10.1073/pnas.0730858100 http://dx.doi.org/10.1073/pnas.0730858100 DOI 10.1089/dna.1997.16.871 http://dx.doi.org/10.1089/dna.1997.16.871 DOI 10.1097/00008571-200211000-00002 http://dx.doi.org/10.1097/00008571-200211000-00002 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1472-8206.2007.00517.x http://dx.doi.org/10.1111/j.1472-8206.2007.00517.x DOI 10.1124/jpet.105.099929 http://dx.doi.org/10.1124/jpet.105.099929 DOI 10.2133/dmpk.19.308 http://dx.doi.org/10.2133/dmpk.19.308 DOI 10.2133/dmpk.20.379 http://dx.doi.org/10.2133/dmpk.20.379 DrugBank DB00122 http://www.drugbank.ca/drugs/DB00122 DrugBank DB00127 http://www.drugbank.ca/drugs/DB00127 DrugBank DB00152 http://www.drugbank.ca/drugs/DB00152 DrugBank DB00184 http://www.drugbank.ca/drugs/DB00184 DrugBank DB00206 http://www.drugbank.ca/drugs/DB00206 DrugBank DB00220 http://www.drugbank.ca/drugs/DB00220 DrugBank DB00224 http://www.drugbank.ca/drugs/DB00224 DrugBank DB00242 http://www.drugbank.ca/drugs/DB00242 DrugBank DB00280 http://www.drugbank.ca/drugs/DB00280 DrugBank DB00318 http://www.drugbank.ca/drugs/DB00318 DrugBank DB00331 http://www.drugbank.ca/drugs/DB00331 DrugBank DB00345 http://www.drugbank.ca/drugs/DB00345 DrugBank DB00368 http://www.drugbank.ca/drugs/DB00368 DrugBank DB00396 http://www.drugbank.ca/drugs/DB00396 DrugBank DB00406 http://www.drugbank.ca/drugs/DB00406 DrugBank DB00413 http://www.drugbank.ca/drugs/DB00413 DrugBank DB00457 http://www.drugbank.ca/drugs/DB00457 DrugBank DB00458 http://www.drugbank.ca/drugs/DB00458 DrugBank DB00468 http://www.drugbank.ca/drugs/DB00468 DrugBank DB00477 http://www.drugbank.ca/drugs/DB00477 DrugBank DB00501 http://www.drugbank.ca/drugs/DB00501 DrugBank DB00520 http://www.drugbank.ca/drugs/DB00520 DrugBank DB00526 http://www.drugbank.ca/drugs/DB00526 DrugBank DB00536 http://www.drugbank.ca/drugs/DB00536 DrugBank DB00575 http://www.drugbank.ca/drugs/DB00575 DrugBank DB00594 http://www.drugbank.ca/drugs/DB00594 DrugBank DB00619 http://www.drugbank.ca/drugs/DB00619 DrugBank DB00624 http://www.drugbank.ca/drugs/DB00624 DrugBank DB00654 http://www.drugbank.ca/drugs/DB00654 DrugBank DB00661 http://www.drugbank.ca/drugs/DB00661 DrugBank DB00667 http://www.drugbank.ca/drugs/DB00667 DrugBank DB00668 http://www.drugbank.ca/drugs/DB00668 DrugBank DB00683 http://www.drugbank.ca/drugs/DB00683 DrugBank DB00709 http://www.drugbank.ca/drugs/DB00709 DrugBank DB00728 http://www.drugbank.ca/drugs/DB00728 DrugBank DB00783 http://www.drugbank.ca/drugs/DB00783 DrugBank DB00787 http://www.drugbank.ca/drugs/DB00787 DrugBank DB00863 http://www.drugbank.ca/drugs/DB00863 DrugBank DB00908 http://www.drugbank.ca/drugs/DB00908 DrugBank DB00914 http://www.drugbank.ca/drugs/DB00914 DrugBank DB00915 http://www.drugbank.ca/drugs/DB00915 DrugBank DB00917 http://www.drugbank.ca/drugs/DB00917 DrugBank DB00925 http://www.drugbank.ca/drugs/DB00925 DrugBank DB00987 http://www.drugbank.ca/drugs/DB00987 DrugBank DB00988 http://www.drugbank.ca/drugs/DB00988 DrugBank DB01004 http://www.drugbank.ca/drugs/DB01004 DrugBank DB01032 http://www.drugbank.ca/drugs/DB01032 DrugBank DB01035 http://www.drugbank.ca/drugs/DB01035 DrugBank DB01075 http://www.drugbank.ca/drugs/DB01075 DrugBank DB01114 http://www.drugbank.ca/drugs/DB01114 DrugBank DB01151 http://www.drugbank.ca/drugs/DB01151 DrugBank DB01193 http://www.drugbank.ca/drugs/DB01193 DrugBank DB01199 http://www.drugbank.ca/drugs/DB01199 DrugBank DB01232 http://www.drugbank.ca/drugs/DB01232 DrugBank DB01337 http://www.drugbank.ca/drugs/DB01337 DrugBank DB01339 http://www.drugbank.ca/drugs/DB01339 DrugBank DB01614 http://www.drugbank.ca/drugs/DB01614 DrugBank DB01621 http://www.drugbank.ca/drugs/DB01621 DrugBank DB01622 http://www.drugbank.ca/drugs/DB01622 DrugBank DB01623 http://www.drugbank.ca/drugs/DB01623 DrugBank DB03128 http://www.drugbank.ca/drugs/DB03128 DrugBank DB04574 http://www.drugbank.ca/drugs/DB04574 EMBL AJ243995 http://www.ebi.ac.uk/ena/data/view/AJ243995 EMBL AJ243996 http://www.ebi.ac.uk/ena/data/view/AJ243996 EMBL AJ243998 http://www.ebi.ac.uk/ena/data/view/AJ243998 EMBL AJ243999 http://www.ebi.ac.uk/ena/data/view/AJ243999 EMBL AJ244000 http://www.ebi.ac.uk/ena/data/view/AJ244000 EMBL AJ245460 http://www.ebi.ac.uk/ena/data/view/AJ245460 EMBL AJ276051 http://www.ebi.ac.uk/ena/data/view/AJ276051 EMBL AJ276052 http://www.ebi.ac.uk/ena/data/view/AJ276052 EMBL AJ276053 http://www.ebi.ac.uk/ena/data/view/AJ276053 EMBL AK289887 http://www.ebi.ac.uk/ena/data/view/AK289887 EMBL AL353625 http://www.ebi.ac.uk/ena/data/view/AL353625 EMBL BC126364 http://www.ebi.ac.uk/ena/data/view/BC126364 EMBL U77086 http://www.ebi.ac.uk/ena/data/view/U77086 EMBL X98332 http://www.ebi.ac.uk/ena/data/view/X98332 Ensembl ENST00000324965 http://www.ensembl.org/id/ENST00000324965 Ensembl ENST00000366963 http://www.ensembl.org/id/ENST00000366963 Ensembl ENST00000457470 http://www.ensembl.org/id/ENST00000457470 Ensembl ENST00000460902 http://www.ensembl.org/id/ENST00000460902 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016323 GO_function GO:0005277 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005277 GO_function GO:0005329 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005329 GO_function GO:0005333 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005333 GO_function GO:0008513 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008513 GO_function GO:0015101 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015101 GO_function GO:0015651 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015651 GO_process GO:0006836 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006836 GO_process GO:0006855 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006855 GO_process GO:0010248 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010248 GO_process GO:0015695 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015695 GO_process GO:0015872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015872 GO_process GO:0015874 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015874 GO_process GO:0048241 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048241 GO_process GO:0051260 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051260 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC22A1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC22A1 GeneID 6580 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6580 GeneTree ENSGT00760000118852 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118852 HGNC HGNC:10963 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10963 HOGENOM HOG000234568 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000234568&db=HOGENOM6 HOVERGEN HBG061545 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG061545&db=HOVERGEN HPA HPA029846 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA029846 InParanoid O15245 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O15245 IntAct O15245 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O15245* InterPro IPR004749 http://www.ebi.ac.uk/interpro/entry/IPR004749 InterPro IPR005828 http://www.ebi.ac.uk/interpro/entry/IPR005828 InterPro IPR005829 http://www.ebi.ac.uk/interpro/entry/IPR005829 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 6580 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6580 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:6580 http://www.genome.jp/dbget-bin/www_bget?hsa:6580 KEGG_Orthology KO:K08198 http://www.genome.jp/dbget-bin/www_bget?KO:K08198 KEGG_Pathway ko04976 http://www.genome.jp/kegg-bin/show_pathway?ko04976 MIM 602607 http://www.ncbi.nlm.nih.gov/omim/602607 OMA DLFQSCL http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=DLFQSCL OrthoDB EOG091G05AC http://cegg.unige.ch/orthodb/results?searchtext=EOG091G05AC PROSITE PS00216 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00216 PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PSORT swissprot:S22A1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S22A1_HUMAN PSORT-B swissprot:S22A1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S22A1_HUMAN PSORT2 swissprot:S22A1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S22A1_HUMAN Pfam PF00083 http://pfam.xfam.org/family/PF00083 PharmGKB PA329 http://www.pharmgkb.org/do/serve?objId=PA329&objCls=Gene Phobius swissprot:S22A1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S22A1_HUMAN PhylomeDB O15245 http://phylomedb.org/?seqid=O15245 ProteinModelPortal O15245 http://www.proteinmodelportal.org/query/uniprot/O15245 PubMed 11388889 http://www.ncbi.nlm.nih.gov/pubmed/11388889 PubMed 11408531 http://www.ncbi.nlm.nih.gov/pubmed/11408531 PubMed 12439218 http://www.ncbi.nlm.nih.gov/pubmed/12439218 PubMed 12719534 http://www.ncbi.nlm.nih.gov/pubmed/12719534 PubMed 14574404 http://www.ncbi.nlm.nih.gov/pubmed/14574404 PubMed 14697261 http://www.ncbi.nlm.nih.gov/pubmed/14697261 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15389554 http://www.ncbi.nlm.nih.gov/pubmed/15389554 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15499200 http://www.ncbi.nlm.nih.gov/pubmed/15499200 PubMed 16263091 http://www.ncbi.nlm.nih.gov/pubmed/16263091 PubMed 16272756 http://www.ncbi.nlm.nih.gov/pubmed/16272756 PubMed 16436500 http://www.ncbi.nlm.nih.gov/pubmed/16436500 PubMed 16581093 http://www.ncbi.nlm.nih.gov/pubmed/16581093 PubMed 17635184 http://www.ncbi.nlm.nih.gov/pubmed/17635184 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 9187257 http://www.ncbi.nlm.nih.gov/pubmed/9187257 PubMed 9260930 http://www.ncbi.nlm.nih.gov/pubmed/9260930 PubMed 9655880 http://www.ncbi.nlm.nih.gov/pubmed/9655880 Reactome R-HSA-112311 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-112311 Reactome R-HSA-181430 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-181430 Reactome R-HSA-2161517 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2161517 Reactome R-HSA-442660 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-442660 Reactome R-HSA-549127 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-549127 RefSeq NP_003048 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_003048 RefSeq NP_694857 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_694857 RefSeq XP_006715615 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006715615 STRING 9606.ENSP00000355930 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000355930&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.1.19.29 http://www.tcdb.org/search/result.php?tc=2.A.1.19.29 TIGRFAMs TIGR00898 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00898 UCSC uc003qtc http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003qtc&org=rat UniGene Hs.117367 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.117367 UniProtKB S22A1_HUMAN http://www.uniprot.org/uniprot/S22A1_HUMAN UniProtKB-AC O15245 http://www.uniprot.org/uniprot/O15245 charge swissprot:S22A1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S22A1_HUMAN eggNOG COG0477 http://eggnogapi.embl.de/nog_data/html/tree/COG0477 eggNOG KOG0255 http://eggnogapi.embl.de/nog_data/html/tree/KOG0255 epestfind swissprot:S22A1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S22A1_HUMAN garnier swissprot:S22A1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S22A1_HUMAN helixturnhelix swissprot:S22A1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S22A1_HUMAN hmoment swissprot:S22A1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S22A1_HUMAN iep swissprot:S22A1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S22A1_HUMAN inforesidue swissprot:S22A1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S22A1_HUMAN neXtProt NX_O15245 http://www.nextprot.org/db/entry/NX_O15245 octanol swissprot:S22A1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S22A1_HUMAN pepcoil swissprot:S22A1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S22A1_HUMAN pepdigest swissprot:S22A1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S22A1_HUMAN pepinfo swissprot:S22A1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S22A1_HUMAN pepnet swissprot:S22A1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S22A1_HUMAN pepstats swissprot:S22A1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S22A1_HUMAN pepwheel swissprot:S22A1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S22A1_HUMAN pepwindow swissprot:S22A1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S22A1_HUMAN sigcleave swissprot:S22A1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S22A1_HUMAN ## Database ID URL or Descriptions # AltName MCLN1_HUMAN MG-2 # AltName MCLN1_HUMAN Mucolipidin # BioGrid 121441 4 # ChiTaRS MCOLN1 human # DISEASE MCLN1_HUMAN Mucolipidosis 4 (ML4) [MIM 252650] An autosomal recessive lysosomal storage disorder characterized by severe psychomotor retardation and ophthalmologic abnormalities, including corneal opacity, retinal degeneration and strabismus. Storage bodies of lipids and water-soluble substances are seen by electron microscopy in almost every cell type of the patients. Most patients are unable to speak or walk independently and reach a maximal developmental level of 1-2 years. All patients have constitutive achlorhydia associated with a secondary elevation of serum gastrin levels. {ECO 0000269|PubMed 11030752, ECO 0000269|PubMed 11317355, ECO 0000269|PubMed 12182165, ECO 0000269|PubMed 15523648}. Note=The disease is caused by mutations affecting the gene represented in this entry. # ENZYME REGULATION MCLN1_HUMAN Channel function is transiently modulated by changes in Ca(2+), and inhibited by a reduction of pH; pH changes modify the aggregation state of unitary channels. # Ensembl ENST00000264079 ENSP00000264079; ENSG00000090674 # ExpressionAtlas Q9GZU1 baseline and differential # FUNCTION MCLN1_HUMAN Cation channel probably playing a role in the endocytic pathway and in the control of membrane trafficking of proteins and lipids. Could play a major role in Ca(2+) transport regulating lysosomal exocytosis. {ECO 0000269|PubMed 12459486, ECO 0000269|PubMed 14749347}. # GO_component GO:0005737 cytoplasm; IDA:HPA. # GO_component GO:0005765 lysosomal membrane; IDA:UniProtKB. # GO_component GO:0005886 plasma membrane; IDA:HPA. # GO_component GO:0005887 integral component of plasma membrane; NAS:UniProtKB. # GO_component GO:0010008 endosome membrane; TAS:Reactome. # GO_component GO:0016021 integral component of membrane; NAS:UniProtKB. # GO_component GO:0031902 late endosome membrane; IEA:UniProtKB-SubCell. # GO_component GO:0043235 receptor complex; IDA:MGI. # GO_function GO:0005261 cation channel activity; NAS:UniProtKB. # GO_function GO:0005262 calcium channel activity; TAS:Reactome. # GO_function GO:0005381 iron ion transmembrane transporter activity; TAS:Reactome. # GO_function GO:0072345 NAADP-sensitive calcium-release channel activity; IEA:Ensembl. # GO_process GO:0006812 cation transport; NAS:UniProtKB. # GO_process GO:0033572 transferrin transport; TAS:Reactome. # GO_process GO:0070588 calcium ion transmembrane transport; TAS:Reactome. # GO_process GO:0097352 autophagosome maturation; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0055085 transmembrane transport # Genevisible Q9GZU1 HS # HGNC HGNC:13356 MCOLN1 # IntAct Q9GZU1 3 # InterPro IPR013122 PKD1_2_channel # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00144 [Inherited metabolic disease; Nervous system disease; Lysosomal storage disease] Mucolipidosis IV # KEGG_Pathway ko04142 Lysosome # MIM 252650 phenotype # MIM 605248 gene # Organism MCLN1_HUMAN Homo sapiens (Human) # Orphanet 578 Mucolipidosis type 4 # Pfam PF08016 PKD_channel # Proteomes UP000005640 Chromosome 19 # Reactome R-HSA-3295583 TRP channels # Reactome R-HSA-917977 Transferrin endocytosis and recycling # RecName MCLN1_HUMAN Mucolipin-1 # RefSeq NP_065394 NM_020533.2 # SEQUENCE CAUTION MCLN1_HUMAN Sequence=AAQ13604.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; Sequence=CAC07813.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO 0000305}; Sequence=EAW69031.1; Type=Erroneous gene model prediction; Evidence={ECO 0000305}; Sequence=EAW69034.1; Type=Erroneous gene model prediction; Evidence={ECO 0000305}; # SIMILARITY Belongs to the transient receptor (TC 1.A.4) family. Polycystin subfamily. MCOLN1 sub-subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION MCLN1_HUMAN Cell membrane; Multi-pass membrane protein. Late endosome membrane; Multi-pass membrane protein. Lysosome membrane; Multi-pass membrane protein. # SUBUNIT MCLN1_HUMAN Forms multimeric complexes. Interacts with PDCD6. {ECO 0000269|PubMed 14749347, ECO 0000269|PubMed 19864416}. # TCDB 1.A.5.3 the polycystin cation channel (pcc) family # TISSUE SPECIFICITY MCLN1_HUMAN Widely expressed in adult and fetal tissues. {ECO 0000269|PubMed 10973263, ECO 0000269|PubMed 11013137, ECO 0000269|PubMed 11030752}. # UCSC uc002mgo human # eggNOG ENOG410Z1HH LUCA # eggNOG KOG3733 Eukaryota BLAST swissprot:MCLN1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:MCLN1_HUMAN COXPRESdb 57192 http://coxpresdb.jp/data/gene/57192.shtml CleanEx HS_MCOLN1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_MCOLN1 DOI 10.1002/humu.1115 http://dx.doi.org/10.1002/humu.1115 DOI 10.1002/humu.20094 http://dx.doi.org/10.1002/humu.20094 DOI 10.1016/S0014-5793(02)03670-0 http://dx.doi.org/10.1016/S0014-5793(02)03670-0 DOI 10.1016/j.febslet.2004.04.080 http://dx.doi.org/10.1016/j.febslet.2004.04.080 DOI 10.1021/pr8008012 http://dx.doi.org/10.1021/pr8008012 DOI 10.1038/79095 http://dx.doi.org/10.1038/79095 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.M109.047241 http://dx.doi.org/10.1074/jbc.M109.047241 DOI 10.1086/321205 http://dx.doi.org/10.1086/321205 DOI 10.1093/hmg/9.17.2471 http://dx.doi.org/10.1093/hmg/9.17.2471 DOI 10.1093/hmg/ddh067 http://dx.doi.org/10.1093/hmg/ddh067 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1600-0854.2007.00643.x http://dx.doi.org/10.1111/j.1600-0854.2007.00643.x DOI 10.1126/science.1133427 http://dx.doi.org/10.1126/science.1133427 DOI 10.1212/WNL.59.3.306 http://dx.doi.org/10.1212/WNL.59.3.306 EMBL AF171088 http://www.ebi.ac.uk/ena/data/view/AF171088 EMBL AF249319 http://www.ebi.ac.uk/ena/data/view/AF249319 EMBL AF287269 http://www.ebi.ac.uk/ena/data/view/AF287269 EMBL AF287270 http://www.ebi.ac.uk/ena/data/view/AF287270 EMBL AF305572 http://www.ebi.ac.uk/ena/data/view/AF305572 EMBL AF305573 http://www.ebi.ac.uk/ena/data/view/AF305573 EMBL AF305574 http://www.ebi.ac.uk/ena/data/view/AF305574 EMBL AF305575 http://www.ebi.ac.uk/ena/data/view/AF305575 EMBL AF305576 http://www.ebi.ac.uk/ena/data/view/AF305576 EMBL AF305577 http://www.ebi.ac.uk/ena/data/view/AF305577 EMBL AF305578 http://www.ebi.ac.uk/ena/data/view/AF305578 EMBL AF305579 http://www.ebi.ac.uk/ena/data/view/AF305579 EMBL AJ293659 http://www.ebi.ac.uk/ena/data/view/AJ293659 EMBL AJ293970 http://www.ebi.ac.uk/ena/data/view/AJ293970 EMBL AK026102 http://www.ebi.ac.uk/ena/data/view/AK026102 EMBL BC005149 http://www.ebi.ac.uk/ena/data/view/BC005149 EMBL CH471139 http://www.ebi.ac.uk/ena/data/view/CH471139 EMBL CH471139 http://www.ebi.ac.uk/ena/data/view/CH471139 Ensembl ENST00000264079 http://www.ensembl.org/id/ENST00000264079 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005765 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005765 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0010008 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010008 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0031902 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031902 GO_component GO:0043235 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043235 GO_function GO:0005261 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005261 GO_function GO:0005262 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005262 GO_function GO:0005381 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005381 GO_function GO:0072345 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0072345 GO_process GO:0006812 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006812 GO_process GO:0033572 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033572 GO_process GO:0070588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070588 GO_process GO:0097352 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097352 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards MCOLN1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=MCOLN1 GeneID 57192 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=57192 GeneTree ENSGT00390000017126 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000017126 H-InvDB HIX0023287 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0023287 HGNC HGNC:13356 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:13356 HOGENOM HOG000232158 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000232158&db=HOGENOM6 HOVERGEN HBG052430 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052430&db=HOVERGEN HPA CAB032637 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB032637 HPA HPA031763 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA031763 InParanoid Q9GZU1 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9GZU1 IntAct Q9GZU1 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9GZU1* InterPro IPR013122 http://www.ebi.ac.uk/interpro/entry/IPR013122 Jabion 57192 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=57192 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00144 http://www.genome.jp/dbget-bin/www_bget?H00144 KEGG_Gene hsa:57192 http://www.genome.jp/dbget-bin/www_bget?hsa:57192 KEGG_Orthology KO:K04992 http://www.genome.jp/dbget-bin/www_bget?KO:K04992 KEGG_Pathway ko04142 http://www.genome.jp/kegg-bin/show_pathway?ko04142 MIM 252650 http://www.ncbi.nlm.nih.gov/omim/252650 MIM 605248 http://www.ncbi.nlm.nih.gov/omim/605248 MINT MINT-1409368 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1409368 OMA PANDTFN http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=PANDTFN Orphanet 578 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=578 OrthoDB EOG091G026A http://cegg.unige.ch/orthodb/results?searchtext=EOG091G026A PSORT swissprot:MCLN1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:MCLN1_HUMAN PSORT-B swissprot:MCLN1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:MCLN1_HUMAN PSORT2 swissprot:MCLN1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:MCLN1_HUMAN Pfam PF08016 http://pfam.xfam.org/family/PF08016 PharmGKB PA30699 http://www.pharmgkb.org/do/serve?objId=PA30699&objCls=Gene Phobius swissprot:MCLN1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:MCLN1_HUMAN PhylomeDB Q9GZU1 http://phylomedb.org/?seqid=Q9GZU1 ProteinModelPortal Q9GZU1 http://www.proteinmodelportal.org/query/uniprot/Q9GZU1 PubMed 10973263 http://www.ncbi.nlm.nih.gov/pubmed/10973263 PubMed 11013137 http://www.ncbi.nlm.nih.gov/pubmed/11013137 PubMed 11030752 http://www.ncbi.nlm.nih.gov/pubmed/11030752 PubMed 11317355 http://www.ncbi.nlm.nih.gov/pubmed/11317355 PubMed 12182165 http://www.ncbi.nlm.nih.gov/pubmed/12182165 PubMed 12459486 http://www.ncbi.nlm.nih.gov/pubmed/12459486 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 14749347 http://www.ncbi.nlm.nih.gov/pubmed/14749347 PubMed 15178326 http://www.ncbi.nlm.nih.gov/pubmed/15178326 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15523648 http://www.ncbi.nlm.nih.gov/pubmed/15523648 PubMed 16959974 http://www.ncbi.nlm.nih.gov/pubmed/16959974 PubMed 17897319 http://www.ncbi.nlm.nih.gov/pubmed/17897319 PubMed 19159218 http://www.ncbi.nlm.nih.gov/pubmed/19159218 PubMed 19864416 http://www.ncbi.nlm.nih.gov/pubmed/19864416 Reactome R-HSA-3295583 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-3295583 Reactome R-HSA-917977 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-917977 RefSeq NP_065394 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_065394 STRING 9606.ENSP00000264079 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000264079&targetmode=cogs TCDB 1.A.5.3 http://www.tcdb.org/search/result.php?tc=1.A.5.3 UCSC uc002mgo http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002mgo&org=rat UniGene Hs.631858 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.631858 UniProtKB MCLN1_HUMAN http://www.uniprot.org/uniprot/MCLN1_HUMAN UniProtKB-AC Q9GZU1 http://www.uniprot.org/uniprot/Q9GZU1 charge swissprot:MCLN1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:MCLN1_HUMAN eggNOG ENOG410Z1HH http://eggnogapi.embl.de/nog_data/html/tree/ENOG410Z1HH eggNOG KOG3733 http://eggnogapi.embl.de/nog_data/html/tree/KOG3733 epestfind swissprot:MCLN1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:MCLN1_HUMAN garnier swissprot:MCLN1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:MCLN1_HUMAN helixturnhelix swissprot:MCLN1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:MCLN1_HUMAN hmoment swissprot:MCLN1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:MCLN1_HUMAN iep swissprot:MCLN1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:MCLN1_HUMAN inforesidue swissprot:MCLN1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:MCLN1_HUMAN neXtProt NX_Q9GZU1 http://www.nextprot.org/db/entry/NX_Q9GZU1 octanol swissprot:MCLN1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:MCLN1_HUMAN pepcoil swissprot:MCLN1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:MCLN1_HUMAN pepdigest swissprot:MCLN1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:MCLN1_HUMAN pepinfo swissprot:MCLN1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:MCLN1_HUMAN pepnet swissprot:MCLN1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:MCLN1_HUMAN pepstats swissprot:MCLN1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:MCLN1_HUMAN pepwheel swissprot:MCLN1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:MCLN1_HUMAN pepwindow swissprot:MCLN1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:MCLN1_HUMAN sigcleave swissprot:MCLN1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:MCLN1_HUMAN ## Database ID URL or Descriptions # AltName COPT2_HUMAN Copper transporter 2 # AltName COPT2_HUMAN Solute carrier family 31 member 2 # BioGrid 107713 6 # DrugBank DB00515 Cisplatin # DrugBank DB00958 Carboplatin # Ensembl ENST00000259392 ENSP00000259392; ENSG00000136867 # ExpressionAtlas O15432 baseline and differential # FUNCTION COPT2_HUMAN Involved in low-affinity copper uptake. {ECO 0000305}. # GO_component GO:0005770 late endosome; IEA:Ensembl. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0055037 recycling endosome; IEA:Ensembl. # GO_function GO:0005375 copper ion transmembrane transporter activity; TAS:ProtInc. # GO_process GO:0006825 copper ion transport; TAS:ProtInc. # GO_process GO:0006878 cellular copper ion homeostasis; IEA:Ensembl. # GO_process GO:1902311 regulation of copper ion transmembrane transport; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005768 endosome # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # Genevisible O15432 HS # HGNC HGNC:11017 SLC31A2 # InterPro IPR007274 Cop_transporter # KEGG_Brite ko02001 Solute carrier family # MIM 603088 gene # Organism COPT2_HUMAN Homo sapiens (Human) # PANTHER PTHR12483 PTHR12483 # Pfam PF04145 Ctr # Proteomes UP000005640 Chromosome 9 # RecName COPT2_HUMAN Probable low affinity copper uptake protein 2 # RefSeq NP_001851 NM_001860.2 # SIMILARITY Belongs to the copper transporter (Ctr) (TC 1.A.56) family. SLC31A subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION COPT2_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # TCDB 1.A.56.1 the copper transporter (ctr) family # TISSUE SPECIFICITY COPT2_HUMAN Ubiquitous. # eggNOG ENOG4111I8D LUCA # eggNOG KOG3386 Eukaryota BLAST swissprot:COPT2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:COPT2_HUMAN BioCyc ZFISH:ENSG00000136867-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000136867-MONOMER COXPRESdb 1318 http://coxpresdb.jp/data/gene/1318.shtml CleanEx HS_SLC31A2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC31A2 DOI 10.1016/j.cell.2006.09.026 http://dx.doi.org/10.1016/j.cell.2006.09.026 DOI 10.1073/pnas.94.14.7481 http://dx.doi.org/10.1073/pnas.94.14.7481 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DrugBank DB00515 http://www.drugbank.ca/drugs/DB00515 DrugBank DB00958 http://www.drugbank.ca/drugs/DB00958 EMBL BC026252 http://www.ebi.ac.uk/ena/data/view/BC026252 EMBL U83461 http://www.ebi.ac.uk/ena/data/view/U83461 Ensembl ENST00000259392 http://www.ensembl.org/id/ENST00000259392 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005770 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005770 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0055037 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055037 GO_function GO:0005375 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005375 GO_process GO:0006825 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006825 GO_process GO:0006878 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006878 GO_process GO:1902311 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902311 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GeneCards SLC31A2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC31A2 GeneID 1318 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=1318 GeneTree ENSGT00530000063415 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000063415 HGNC HGNC:11017 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11017 HOGENOM HOG000195393 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000195393&db=HOGENOM6 HOVERGEN HBG106679 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG106679&db=HOVERGEN HPA HPA014861 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA014861 InParanoid O15432 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O15432 InterPro IPR007274 http://www.ebi.ac.uk/interpro/entry/IPR007274 Jabion 1318 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=1318 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:1318 http://www.genome.jp/dbget-bin/www_bget?hsa:1318 KEGG_Orthology KO:K14687 http://www.genome.jp/dbget-bin/www_bget?KO:K14687 MIM 603088 http://www.ncbi.nlm.nih.gov/omim/603088 MINT MINT-2998980 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-2998980 OMA YPLLRMV http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=YPLLRMV OrthoDB EOG091G0VVR http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0VVR PANTHER PTHR12483 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12483 PSORT swissprot:COPT2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:COPT2_HUMAN PSORT-B swissprot:COPT2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:COPT2_HUMAN PSORT2 swissprot:COPT2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:COPT2_HUMAN Pfam PF04145 http://pfam.xfam.org/family/PF04145 PharmGKB PA35886 http://www.pharmgkb.org/do/serve?objId=PA35886&objCls=Gene Phobius swissprot:COPT2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:COPT2_HUMAN PhylomeDB O15432 http://phylomedb.org/?seqid=O15432 ProteinModelPortal O15432 http://www.proteinmodelportal.org/query/uniprot/O15432 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 17081983 http://www.ncbi.nlm.nih.gov/pubmed/17081983 PubMed 9207117 http://www.ncbi.nlm.nih.gov/pubmed/9207117 RefSeq NP_001851 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001851 STRING 9606.ENSP00000259392 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000259392&targetmode=cogs TCDB 1.A.56.1 http://www.tcdb.org/search/result.php?tc=1.A.56.1 UniGene Hs.24030 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.24030 UniProtKB COPT2_HUMAN http://www.uniprot.org/uniprot/COPT2_HUMAN UniProtKB-AC O15432 http://www.uniprot.org/uniprot/O15432 charge swissprot:COPT2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:COPT2_HUMAN eggNOG ENOG4111I8D http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111I8D eggNOG KOG3386 http://eggnogapi.embl.de/nog_data/html/tree/KOG3386 epestfind swissprot:COPT2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:COPT2_HUMAN garnier swissprot:COPT2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:COPT2_HUMAN helixturnhelix swissprot:COPT2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:COPT2_HUMAN hmoment swissprot:COPT2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:COPT2_HUMAN iep swissprot:COPT2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:COPT2_HUMAN inforesidue swissprot:COPT2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:COPT2_HUMAN neXtProt NX_O15432 http://www.nextprot.org/db/entry/NX_O15432 octanol swissprot:COPT2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:COPT2_HUMAN pepcoil swissprot:COPT2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:COPT2_HUMAN pepdigest swissprot:COPT2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:COPT2_HUMAN pepinfo swissprot:COPT2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:COPT2_HUMAN pepnet swissprot:COPT2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:COPT2_HUMAN pepstats swissprot:COPT2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:COPT2_HUMAN pepwheel swissprot:COPT2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:COPT2_HUMAN pepwindow swissprot:COPT2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:COPT2_HUMAN sigcleave swissprot:COPT2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:COPT2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS UT2_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=UT-A1; IsoId=Q15849-1; Sequence=Displayed; Name=2; Synonyms=UT-A2; IsoId=Q15849-2; Sequence=VSP_031171; # AltName UT2_HUMAN Solute carrier family 14 member 2 # AltName UT2_HUMAN Urea transporter, kidney # CCDS CCDS11924 -. [Q15849-1] # ChiTaRS SLC14A2 human # DrugBank DB03904 Urea # Ensembl ENST00000255226 ENSP00000255226; ENSG00000132874. [Q15849-1] # Ensembl ENST00000586448 ENSP00000465953; ENSG00000132874. [Q15849-1] # ExpressionAtlas Q15849 baseline and differential # FUNCTION UT2_HUMAN Specialized low-affinity vasopressin-regulated urea transporter. Mediates rapid transepithelial urea transport across the inner medullary collecting duct and plays a major role in the urinary concentrating mechanism. {ECO 0000269|PubMed 11502588, ECO 0000269|PubMed 8647271}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0016020 membrane; TAS:ProtInc. # GO_component GO:0016021 integral component of membrane; TAS:ProtInc. # GO_component GO:0016324 apical plasma membrane; IEA:UniProtKB-SubCell. # GO_function GO:0015204 urea transmembrane transporter activity; TAS:Reactome. # GO_function GO:0015265 urea channel activity; IBA:GO_Central. # GO_function GO:0050839 cell adhesion molecule binding; IDA:MGI. # GO_process GO:0009414 response to water deprivation; IEA:Ensembl. # GO_process GO:0015840 urea transport; TAS:ProtInc. # GO_process GO:0055085 transmembrane transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.10.3430.10 -; 2. # Genevisible Q15849 HS # HGNC HGNC:10919 SLC14A2 # INDUCTION UT2_HUMAN Isoform 1 is induced by low protein in the diet. Isoform 2 is induced by dehydration. # INTERACTION UT2_HUMAN O95295 SNAPIN; NbExp=5; IntAct=EBI-1633392, EBI-296723; # IntAct Q15849 2 # InterPro IPR004937 Urea_transporter # InterPro IPR029020 Ammonium/urea_transptr # KEGG_Brite ko02001 Solute carrier family # MIM 601611 gene # Organism UT2_HUMAN Homo sapiens (Human) # PANTHER PTHR10464 PTHR10464 # PIR S71339 S71339 # Pfam PF03253 UT; 2 # Proteomes UP000005640 Chromosome 18 # Reactome R-HSA-425366 Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds # RecName UT2_HUMAN Urea transporter 2 # RefSeq NP_001229621 NM_001242692.1. [Q15849-1] # RefSeq NP_009094 NM_007163.3. [Q15849-1] # RefSeq XP_016881504 XM_017026015.1. [Q15849-1] # SIMILARITY Belongs to the urea transporter family. {ECO 0000305}. # SUBCELLULAR LOCATION UT2_HUMAN Apical cell membrane; Multi-pass membrane protein. # SUBUNIT Isoform 1 interacts with SNAPIN which may be important for recruitment to the plasma membrane. {ECO:0000269|PubMed 17702749}. # TCDB 1.A.28.1 the urea transporter (ut) family # TISSUE SPECIFICITY UT2_HUMAN Isoform 1 and isoform 2 are expressed in the inner medulla of the kidney. {ECO 0000269|PubMed 11502588, ECO 0000269|PubMed 8647271}. # UCSC uc002lbe human. [Q15849-1] # eggNOG COG4413 LUCA # eggNOG ENOG410IEWG Eukaryota BLAST swissprot:UT2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:UT2_HUMAN BioCyc ZFISH:ENSG00000132874-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000132874-MONOMER COXPRESdb 8170 http://coxpresdb.jp/data/gene/8170.shtml CleanEx HS_SLC14A2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC14A2 DOI 10.1016/0014-5793(96)00425-5 http://dx.doi.org/10.1016/0014-5793(96)00425-5 DOI 10.1038/nature03983 http://dx.doi.org/10.1038/nature03983 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.M705866200 http://dx.doi.org/10.1074/jbc.M705866200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DrugBank DB03904 http://www.drugbank.ca/drugs/DB03904 EMBL AC023421 http://www.ebi.ac.uk/ena/data/view/AC023421 EMBL AF349446 http://www.ebi.ac.uk/ena/data/view/AF349446 EMBL AK292422 http://www.ebi.ac.uk/ena/data/view/AK292422 EMBL BC110446 http://www.ebi.ac.uk/ena/data/view/BC110446 EMBL X96969 http://www.ebi.ac.uk/ena/data/view/X96969 Ensembl ENST00000255226 http://www.ensembl.org/id/ENST00000255226 Ensembl ENST00000586448 http://www.ensembl.org/id/ENST00000586448 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_function GO:0015204 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015204 GO_function GO:0015265 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015265 GO_function GO:0050839 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050839 GO_process GO:0009414 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009414 GO_process GO:0015840 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015840 GO_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.10.3430.10 http://www.cathdb.info/version/latest/superfamily/1.10.3430.10 GeneCards SLC14A2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC14A2 GeneID 8170 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=8170 GeneTree ENSGT00390000018729 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000018729 H-InvDB HIX0014422 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0014422 HGNC HGNC:10919 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10919 HOGENOM HOG000168437 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000168437&db=HOGENOM6 HOVERGEN HBG073255 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG073255&db=HOVERGEN InParanoid Q15849 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q15849 IntAct Q15849 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q15849* InterPro IPR004937 http://www.ebi.ac.uk/interpro/entry/IPR004937 InterPro IPR029020 http://www.ebi.ac.uk/interpro/entry/IPR029020 Jabion 8170 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=8170 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:8170 http://www.genome.jp/dbget-bin/www_bget?hsa:8170 KEGG_Orthology KO:K08716 http://www.genome.jp/dbget-bin/www_bget?KO:K08716 MIM 601611 http://www.ncbi.nlm.nih.gov/omim/601611 OMA EFTSPSW http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=EFTSPSW OrthoDB EOG091G095L http://cegg.unige.ch/orthodb/results?searchtext=EOG091G095L PANTHER PTHR10464 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10464 PSORT swissprot:UT2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:UT2_HUMAN PSORT-B swissprot:UT2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:UT2_HUMAN PSORT2 swissprot:UT2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:UT2_HUMAN Pfam PF03253 http://pfam.xfam.org/family/PF03253 PharmGKB PA35811 http://www.pharmgkb.org/do/serve?objId=PA35811&objCls=Gene Phobius swissprot:UT2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:UT2_HUMAN PhylomeDB Q15849 http://phylomedb.org/?seqid=Q15849 ProteinModelPortal Q15849 http://www.proteinmodelportal.org/query/uniprot/Q15849 PubMed 11502588 http://www.ncbi.nlm.nih.gov/pubmed/11502588 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16177791 http://www.ncbi.nlm.nih.gov/pubmed/16177791 PubMed 17702749 http://www.ncbi.nlm.nih.gov/pubmed/17702749 PubMed 8647271 http://www.ncbi.nlm.nih.gov/pubmed/8647271 Reactome R-HSA-425366 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-425366 RefSeq NP_001229621 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001229621 RefSeq NP_009094 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_009094 RefSeq XP_016881504 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016881504 SMR Q15849 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q15849 STRING 9606.ENSP00000255226 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000255226&targetmode=cogs TCDB 1.A.28.1 http://www.tcdb.org/search/result.php?tc=1.A.28.1 UCSC uc002lbe http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002lbe&org=rat UniGene Hs.710927 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.710927 UniProtKB UT2_HUMAN http://www.uniprot.org/uniprot/UT2_HUMAN UniProtKB-AC Q15849 http://www.uniprot.org/uniprot/Q15849 charge swissprot:UT2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:UT2_HUMAN eggNOG COG4413 http://eggnogapi.embl.de/nog_data/html/tree/COG4413 eggNOG ENOG410IEWG http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IEWG epestfind swissprot:UT2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:UT2_HUMAN garnier swissprot:UT2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:UT2_HUMAN helixturnhelix swissprot:UT2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:UT2_HUMAN hmoment swissprot:UT2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:UT2_HUMAN iep swissprot:UT2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:UT2_HUMAN inforesidue swissprot:UT2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:UT2_HUMAN neXtProt NX_Q15849 http://www.nextprot.org/db/entry/NX_Q15849 octanol swissprot:UT2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:UT2_HUMAN pepcoil swissprot:UT2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:UT2_HUMAN pepdigest swissprot:UT2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:UT2_HUMAN pepinfo swissprot:UT2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:UT2_HUMAN pepnet swissprot:UT2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:UT2_HUMAN pepstats swissprot:UT2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:UT2_HUMAN pepwheel swissprot:UT2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:UT2_HUMAN pepwindow swissprot:UT2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:UT2_HUMAN sigcleave swissprot:UT2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:UT2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S22AD_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9Y226-1; Sequence=Displayed; Name=2; IsoId=Q9Y226-2; Sequence=VSP_017830; # AltName S22AD_HUMAN Organic cation transporter-like 3 # BioGrid 114790 3 # CCDS CCDS2676 -. [Q9Y226-1] # CDD cd06174 MFS # Ensembl ENST00000311856 ENSP00000310241; ENSG00000172940. [Q9Y226-1] # ExpressionAtlas Q9Y226 baseline and differential # GO_component GO:0005887 integral component of plasma membrane; NAS:UniProtKB. # GO_component GO:0016324 apical plasma membrane; IDA:UniProtKB. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0015101 organic cation transmembrane transporter activity; NAS:UniProtKB. # GO_function GO:0022891 substrate-specific transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0090416 nicotinate transporter activity; IDA:UniProtKB. # GO_process GO:0015695 organic cation transport; NAS:UniProtKB. # GO_process GO:0015747 urate transport; IDA:UniProtKB. # GO_process GO:2001142 nicotinate transport; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # Genevisible Q9Y226 HS # HGNC HGNC:8494 SLC22A13 # InterPro IPR005828 MFS_sugar_transport-like # InterPro IPR020846 MFS_dom # KEGG_Brite ko02000 Transporters # KEGG_Brite ko02001 Solute carrier family # MIM 604047 gene # Organism S22AD_HUMAN Homo sapiens (Human) # PROSITE PS50850 MFS # Pfam PF00083 Sugar_tr # Proteomes UP000005640 Chromosome 3 # RecName S22AD_HUMAN Solute carrier family 22 member 13 # RefSeq NP_004247 NM_004256.3. [Q9Y226-1] # SIMILARITY Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family. {ECO 0000305}. # SUBCELLULAR LOCATION S22AD_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # SUPFAM SSF103473 SSF103473; 2 # TCDB 2.A.1.19.17 the major facilitator superfamily (mfs) # TISSUE SPECIFICITY Ubiquitous, expressed at low levels. {ECO:0000269|PubMed 10072596}. # UCSC uc003chz human. [Q9Y226-1] # eggNOG ENOG410IRIC Eukaryota # eggNOG ENOG410YUFN LUCA BLAST swissprot:S22AD_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S22AD_HUMAN BioCyc ZFISH:ENSG00000172940-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000172940-MONOMER COXPRESdb 9390 http://coxpresdb.jp/data/gene/9390.shtml CleanEx HS_SLC22A13 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC22A13 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1093/dnares/6.1.37 http://dx.doi.org/10.1093/dnares/6.1.37 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AB010438 http://www.ebi.ac.uk/ena/data/view/AB010438 EMBL AB026898 http://www.ebi.ac.uk/ena/data/view/AB026898 EMBL AK315301 http://www.ebi.ac.uk/ena/data/view/AK315301 EMBL BC035973 http://www.ebi.ac.uk/ena/data/view/BC035973 EMBL CH471055 http://www.ebi.ac.uk/ena/data/view/CH471055 Ensembl ENST00000311856 http://www.ensembl.org/id/ENST00000311856 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0015101 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015101 GO_function GO:0022891 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022891 GO_function GO:0090416 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090416 GO_process GO:0015695 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015695 GO_process GO:0015747 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015747 GO_process GO:2001142 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2001142 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GeneCards SLC22A13 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC22A13 GeneID 9390 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=9390 GeneTree ENSGT00760000118852 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118852 H-InvDB HIX0024264 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0024264 HGNC HGNC:8494 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:8494 HOGENOM HOG000234569 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000234569&db=HOGENOM6 HOVERGEN HBG108433 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG108433&db=HOVERGEN HPA HPA035603 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA035603 HPA HPA035962 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA035962 InParanoid Q9Y226 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9Y226 InterPro IPR005828 http://www.ebi.ac.uk/interpro/entry/IPR005828 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 9390 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=9390 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:9390 http://www.genome.jp/dbget-bin/www_bget?hsa:9390 KEGG_Orthology KO:K08209 http://www.genome.jp/dbget-bin/www_bget?KO:K08209 MIM 604047 http://www.ncbi.nlm.nih.gov/omim/604047 OMA MCIIIIF http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=MCIIIIF OrthoDB EOG091G05AC http://cegg.unige.ch/orthodb/results?searchtext=EOG091G05AC PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PSORT swissprot:S22AD_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S22AD_HUMAN PSORT-B swissprot:S22AD_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S22AD_HUMAN PSORT2 swissprot:S22AD_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S22AD_HUMAN Pfam PF00083 http://pfam.xfam.org/family/PF00083 PharmGKB PA32814 http://www.pharmgkb.org/do/serve?objId=PA32814&objCls=Gene Phobius swissprot:S22AD_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S22AD_HUMAN PhylomeDB Q9Y226 http://phylomedb.org/?seqid=Q9Y226 ProteinModelPortal Q9Y226 http://www.proteinmodelportal.org/query/uniprot/Q9Y226 PubMed 10072596 http://www.ncbi.nlm.nih.gov/pubmed/10072596 PubMed 10231028 http://www.ncbi.nlm.nih.gov/pubmed/10231028 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 RefSeq NP_004247 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004247 STRING 9606.ENSP00000310241 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000310241&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.1.19.17 http://www.tcdb.org/search/result.php?tc=2.A.1.19.17 UCSC uc003chz http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003chz&org=rat UniGene Hs.225941 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.225941 UniProtKB S22AD_HUMAN http://www.uniprot.org/uniprot/S22AD_HUMAN UniProtKB-AC Q9Y226 http://www.uniprot.org/uniprot/Q9Y226 charge swissprot:S22AD_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S22AD_HUMAN eggNOG ENOG410IRIC http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IRIC eggNOG ENOG410YUFN http://eggnogapi.embl.de/nog_data/html/tree/ENOG410YUFN epestfind swissprot:S22AD_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S22AD_HUMAN garnier swissprot:S22AD_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S22AD_HUMAN helixturnhelix swissprot:S22AD_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S22AD_HUMAN hmoment swissprot:S22AD_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S22AD_HUMAN iep swissprot:S22AD_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S22AD_HUMAN inforesidue swissprot:S22AD_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S22AD_HUMAN neXtProt NX_Q9Y226 http://www.nextprot.org/db/entry/NX_Q9Y226 octanol swissprot:S22AD_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S22AD_HUMAN pepcoil swissprot:S22AD_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S22AD_HUMAN pepdigest swissprot:S22AD_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S22AD_HUMAN pepinfo swissprot:S22AD_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S22AD_HUMAN pepnet swissprot:S22AD_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S22AD_HUMAN pepstats swissprot:S22AD_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S22AD_HUMAN pepwheel swissprot:S22AD_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S22AD_HUMAN pepwindow swissprot:S22AD_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S22AD_HUMAN sigcleave swissprot:S22AD_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S22AD_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS PKD2_HUMAN Event=Alternative splicing; Named isoforms=5; Name=1; IsoId=Q13563-1; Sequence=Displayed; Name=2; Synonyms=delta6; IsoId=Q13563-2; Sequence=VSP_042479, VSP_042480; Name=3; Synonyms=delta7; IsoId=Q13563-3; Sequence=VSP_042481; Name=4; Synonyms=delta9; IsoId=Q13563-4; Sequence=VSP_042482, VSP_042483; Name=5; Synonyms=delta12/13; IsoId=Q13563-5; Sequence=VSP_042484; Note=Minor isoform.; # AltName PKD2_HUMAN Autosomal dominant polycystic kidney disease type II protein # AltName PKD2_HUMAN Polycystic kidney disease 2 protein # AltName PKD2_HUMAN Polycystwin # AltName PKD2_HUMAN R48321 # AltName Transient receptor potential cation channel subfamily P member 2 {ECO:0000312|HGNC HGNC:9009} # BioGrid 111328 34 # CCDS CCDS3627 -. [Q13563-1] # ChiTaRS PKD2 human # DISEASE PKD2_HUMAN Polycystic kidney disease 2 (PKD2) [MIM 613095] A disorder characterized by progressive formation and enlargement of cysts in both kidneys, typically leading to end-stage renal disease in adult life. Cysts also occurs in the liver and other organs. It represents approximately 15% of the cases of autosomal dominant polycystic kidney disease. PKD2 is clinically milder than PKD1 but it has a deleterious impact on overall life expectancy. {ECO 0000269|PubMed 10411676, ECO 0000269|PubMed 10541293, ECO 0000269|PubMed 10835625, ECO 0000269|PubMed 11968093, ECO 0000269|PubMed 12707387, ECO 0000269|PubMed 14993477, ECO 0000269|PubMed 15772804, ECO 0000269|PubMed 21115670, ECO 0000269|PubMed 9326320}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DOMAIN PKD2_HUMAN The C-terminal coiled-coil domain binds calcium and undergoes a calcium-induced conformation change. It is implicated in oligomerization and the interaction with PKD1. {ECO 0000269|PubMed 18694932}. # Ensembl ENST00000237596 ENSP00000237596; ENSG00000118762. [Q13563-1] # ExpressionAtlas Q13563 baseline and differential # FUNCTION PKD2_HUMAN Functions as a calcium permeable cation channel involved in fluid-flow mechanosensation by the primary cilium in renal epithelium. Together with TRPV4, forms mechano- and thermosensitive channels in cilium (PubMed 18695040). PKD1 and PKD2 may function through a common signaling pathway that is necessary for normal tubulogenesis. Acts as a regulator of cilium length, together with PKD1. The dynamic control of cilium length is essential in the regulation of mechanotransductive signaling. The cilium length response creates a negative feedback loop whereby fluid shear-mediated deflection of the primary cilium, which decreases intracellular cAMP, leads to cilium shortening and thus decreases flow-induced signaling. Also involved in left/right axis specification downstream of nodal flow forms a complex with PKD1L1 in cilia to facilitate flow detection in left/right patterning (By similarity). {ECO 0000250|UniProtKB O35245, ECO 0000269|PubMed 18695040}. # GO_component GO:0002133 polycystin complex; ISS:BHF-UCL. # GO_component GO:0005737 cytoplasm; IDA:BHF-UCL. # GO_component GO:0005783 endoplasmic reticulum; IDA:UniProtKB. # GO_component GO:0005789 endoplasmic reticulum membrane; IDA:BHF-UCL. # GO_component GO:0005886 plasma membrane; IDA:BHF-UCL. # GO_component GO:0005887 integral component of plasma membrane; IDA:BHF-UCL. # GO_component GO:0005911 cell-cell junction; IEA:Ensembl. # GO_component GO:0005929 cilium; ISS:BHF-UCL. # GO_component GO:0009925 basal plasma membrane; IDA:BHF-UCL. # GO_component GO:0030027 lamellipodium; IDA:BHF-UCL. # GO_component GO:0031514 motile cilium; ISS:BHF-UCL. # GO_component GO:0036064 ciliary basal body; IDA:MGI. # GO_component GO:0045180 basal cortex; IDA:BHF-UCL. # GO_component GO:0060170 ciliary membrane; IEA:UniProtKB-SubCell. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_component GO:0071458 integral component of cytoplasmic side of endoplasmic reticulum membrane; IDA:BHF-UCL. # GO_component GO:0071556 integral component of lumenal side of endoplasmic reticulum membrane; IDA:BHF-UCL. # GO_component GO:0072686 mitotic spindle; IDA:BHF-UCL. # GO_component GO:0097730 non-motile cilium; ISS:BHF-UCL. # GO_function GO:0005102 receptor binding; IPI:BHF-UCL. # GO_function GO:0005244 voltage-gated ion channel activity; IDA:BHF-UCL. # GO_function GO:0005245 voltage-gated calcium channel activity; IDA:BHF-UCL. # GO_function GO:0005248 voltage-gated sodium channel activity; IDA:BHF-UCL. # GO_function GO:0005267 potassium channel activity; ISS:BHF-UCL. # GO_function GO:0005509 calcium ion binding; ISS:BHF-UCL. # GO_function GO:0008092 cytoskeletal protein binding; IDA:BHF-UCL. # GO_function GO:0022843 voltage-gated cation channel activity; IDA:BHF-UCL. # GO_function GO:0042802 identical protein binding; IPI:IntAct. # GO_function GO:0042803 protein homodimerization activity; IDA:BHF-UCL. # GO_function GO:0042805 actinin binding; IDA:BHF-UCL. # GO_function GO:0043398 HLH domain binding; IPI:BHF-UCL. # GO_function GO:0044325 ion channel binding; IPI:BHF-UCL. # GO_function GO:0048763 calcium-induced calcium release activity; IDA:BHF-UCL. # GO_function GO:0051117 ATPase binding; ISS:BHF-UCL. # GO_function GO:0051219 phosphoprotein binding; IPI:UniProtKB. # GO_process GO:0001658 branching involved in ureteric bud morphogenesis; IEP:UniProtKB. # GO_process GO:0001889 liver development; IEP:UniProtKB. # GO_process GO:0001892 embryonic placenta development; ISS:BHF-UCL. # GO_process GO:0001947 heart looping; IMP:BHF-UCL. # GO_process GO:0003127 detection of nodal flow; ISS:BHF-UCL. # GO_process GO:0006816 calcium ion transport; IDA:BHF-UCL. # GO_process GO:0007050 cell cycle arrest; ISS:BHF-UCL. # GO_process GO:0007259 JAK-STAT cascade; ISS:BHF-UCL. # GO_process GO:0007368 determination of left/right symmetry; ISS:BHF-UCL. # GO_process GO:0007507 heart development; IEP:UniProtKB. # GO_process GO:0008285 negative regulation of cell proliferation; NAS:BHF-UCL. # GO_process GO:0021510 spinal cord development; IEP:UniProtKB. # GO_process GO:0021915 neural tube development; IEP:UniProtKB. # GO_process GO:0030814 regulation of cAMP metabolic process; ISS:BHF-UCL. # GO_process GO:0031587 positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity; IMP:BHF-UCL. # GO_process GO:0031659 positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle; IDA:BHF-UCL. # GO_process GO:0034614 cellular response to reactive oxygen species; NAS:BHF-UCL. # GO_process GO:0035502 metanephric part of ureteric bud development; IEP:UniProtKB. # GO_process GO:0035725 sodium ion transmembrane transport; IDA:BHF-UCL. # GO_process GO:0035904 aorta development; IEP:UniProtKB. # GO_process GO:0042127 regulation of cell proliferation; IMP:BHF-UCL. # GO_process GO:0042994 cytoplasmic sequestering of transcription factor; IMP:BHF-UCL. # GO_process GO:0045429 positive regulation of nitric oxide biosynthetic process; IMP:BHF-UCL. # GO_process GO:0045944 positive regulation of transcription from RNA polymerase II promoter; IDA:BHF-UCL. # GO_process GO:0050982 detection of mechanical stimulus; ISS:BHF-UCL. # GO_process GO:0051209 release of sequestered calcium ion into cytosol; IDA:BHF-UCL. # GO_process GO:0051298 centrosome duplication; NAS:BHF-UCL. # GO_process GO:0060315 negative regulation of ryanodine-sensitive calcium-release channel activity; ISS:BHF-UCL. # GO_process GO:0060674 placenta blood vessel development; ISS:BHF-UCL. # GO_process GO:0061333 renal tubule morphogenesis; ISS:BHF-UCL. # GO_process GO:0061441 renal artery morphogenesis; IEP:UniProtKB. # GO_process GO:0070588 calcium ion transmembrane transport; IDA:BHF-UCL. # GO_process GO:0071158 positive regulation of cell cycle arrest; IMP:BHF-UCL. # GO_process GO:0071464 cellular response to hydrostatic pressure; IDA:BHF-UCL. # GO_process GO:0071470 cellular response to osmotic stress; IDA:BHF-UCL. # GO_process GO:0071498 cellular response to fluid shear stress; IMP:BHF-UCL. # GO_process GO:0071910 determination of liver left/right asymmetry; IMP:BHF-UCL. # GO_process GO:0072075 metanephric mesenchyme development; IEP:UniProtKB. # GO_process GO:0072164 mesonephric tubule development; IEP:UniProtKB. # GO_process GO:0072177 mesonephric duct development; IEP:UniProtKB. # GO_process GO:0072208 metanephric smooth muscle tissue development; IEP:UniProtKB. # GO_process GO:0072214 metanephric cortex development; IEP:UniProtKB. # GO_process GO:0072218 metanephric ascending thin limb development; IEP:UniProtKB. # GO_process GO:0072219 metanephric cortical collecting duct development; IEP:UniProtKB. # GO_process GO:0072235 metanephric distal tubule development; IEP:UniProtKB. # GO_process GO:0072284 metanephric S-shaped body morphogenesis; IEP:UniProtKB. # GO_process GO:0090279 regulation of calcium ion import; IDA:BHF-UCL. # GO_process GO:2000134 negative regulation of G1/S transition of mitotic cell cycle; IMP:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_component GO:0005815 microtubule organizing center # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0005929 cilium # GOslim_component GO:0043226 organelle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0008092 cytoskeletal protein binding # GOslim_function GO:0019899 enzyme binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.10.238.10 -; 1. # Gene3D 1.20.120.350 -; 1. # Genevisible Q13563 HS # HGNC HGNC:9009 PKD2 # INTERACTION PKD2_HUMAN Self; NbExp=8; IntAct=EBI-7813714, EBI-7813714; O35387 Hax1 (xeno); NbExp=3; IntAct=EBI-7813714, EBI-642449; Q02363 ID2; NbExp=7; IntAct=EBI-7813714, EBI-713450; Q91908 itpr1 (xeno); NbExp=2; IntAct=EBI-7813714, EBI-9633447; Q6A162 KRT40; NbExp=3; IntAct=EBI-7813714, EBI-10171697; P60410 KRTAP10-8; NbExp=3; IntAct=EBI-7813714, EBI-10171774; P43361 MAGEA8; NbExp=3; IntAct=EBI-7813714, EBI-10182930; P98161 PKD1; NbExp=8; IntAct=EBI-7813714, EBI-1752013; O15162 PLSCR1; NbExp=3; IntAct=EBI-7813714, EBI-740019; P48995 TRPC1; NbExp=3; IntAct=EBI-7813714, EBI-929665; P48995-2 TRPC1; NbExp=4; IntAct=EBI-7813714, EBI-9830970; # IntAct Q13563 22 # InterPro IPR002048 EF_hand_dom # InterPro IPR003915 PKD_2 # InterPro IPR011992 EF-hand-dom_pair # InterPro IPR013122 PKD1_2_channel # InterPro IPR027359 Channel_four-helix_dom # KEGG_Brite ko03036 Chromosome # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00542 [Developmental disorder; Kidney disease; Liver disease] Polycystic kidney disease # MIM 173910 gene # MIM 613095 phenotype # Organism PKD2_HUMAN Homo sapiens (Human) # Orphanet 730 Autosomal dominant polycystic kidney disease # PDB 2KLD NMR; -; A=680-796 # PDB 2KLE NMR; -; A=680-796 # PDB 2KQ6 NMR; -; A=720-797 # PDB 2Y4Q NMR; -; A=717-792 # PDB 3HRN X-ray; 1.90 A; A=833-895 # PDB 3HRO X-ray; 1.90 A; A=833-872 # PDB 5K47 EM; 4.20 A; A/B/C/D=185-723 # PIR G02640 G02640 # PRINTS PR01433 POLYCYSTIN2 # PROSITE PS50222 EF_HAND_2 # Pfam PF08016 PKD_channel # Proteomes UP000005640 Chromosome 4 # Reactome R-HSA-5620916 VxPx cargo-targeting to cilium # RecName PKD2_HUMAN Polycystin-2 # RefSeq NP_000288 NM_000297.3. [Q13563-1] # SIMILARITY Belongs to the polycystin family. {ECO 0000305}. # SIMILARITY Contains 1 EF-hand domain. {ECO:0000255|PROSITE- ProRule PRU00448}. # SUBCELLULAR LOCATION PKD2_HUMAN Cell projection, cilium membrane {ECO 0000269|PubMed 18695040}; Multi-pass membrane protein {ECO 0000255}. Endoplasmic reticulum {ECO 0000269|PubMed 10760273}. # SUBUNIT PKD2_HUMAN Forms homooligomers. Isoform 1 interacts with PKD1 while isoform 3 does not (By similarity). Interacts with PKD1L1. PKD1 requires the presence of PKD2 for stable expression. Interacts with CD2AP (PubMed 10913159). Interacts with HAX1 (PubMed 10760273). Interacts with NEK8 (By similarity). Part of a complex containing AKAP5, ADCY5, ADCY6 and PDE4C (By similarity). Interacts (via C-terminus) with TRPV4 (via C-terminus) (PubMed 18695040). {ECO 0000250|UniProtKB O35245, ECO 0000269|PubMed 10760273, ECO 0000269|PubMed 10913159, ECO 0000269|PubMed 18695040}. # SUPFAM SSF47473 SSF47473 # TCDB 1.A.5.2 the polycystin cation channel (pcc) family # TISSUE SPECIFICITY Strongly expressed in ovary, fetal and adult kidney, testis, and small intestine. Not detected in peripheral leukocytes. {ECO:0000269|PubMed 8650545}. # UCSC uc003hre human. [Q13563-1] # WEB RESOURCE PKD2_HUMAN Name=Functional Glycomics Gateway - Glycan Binding; Note=Polycystin 2 - Not a C-type lectin; URL="http //www.functionalglycomics.org/glycomics/GBPServlet?&operationType=view&cbpId=cbp_hum_Ctlect_205"; # eggNOG ENOG410XTGE LUCA # eggNOG KOG3599 Eukaryota BLAST swissprot:PKD2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:PKD2_HUMAN BioCyc ZFISH:ENSG00000118762-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000118762-MONOMER COXPRESdb 5311 http://coxpresdb.jp/data/gene/5311.shtml CleanEx HS_PKD2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_PKD2 DIP DIP-47455N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-47455N DOI 10.1002/humu.20842 http://dx.doi.org/10.1002/humu.20842 DOI 10.1002/humu.9035 http://dx.doi.org/10.1002/humu.9035 DOI 10.1006/geno.1996.0584 http://dx.doi.org/10.1006/geno.1996.0584 DOI 10.1006/geno.1997.4851 http://dx.doi.org/10.1006/geno.1997.4851 DOI 10.1007/s00109-005-0644-6 http://dx.doi.org/10.1007/s00109-005-0644-6 DOI 10.1016/S0165-6147(00)01832-0 http://dx.doi.org/10.1016/S0165-6147(00)01832-0 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1038/75981 http://dx.doi.org/10.1038/75981 DOI 10.1046/j.1523-1755.1999.00534.x http://dx.doi.org/10.1046/j.1523-1755.1999.00534.x DOI 10.1073/pnas.97.8.4017 http://dx.doi.org/10.1073/pnas.97.8.4017 DOI 10.1074/jbc.M006624200 http://dx.doi.org/10.1074/jbc.M006624200 DOI 10.1074/jbc.M802743200 http://dx.doi.org/10.1074/jbc.M802743200 DOI 10.1074/mcp.M800504-MCP200 http://dx.doi.org/10.1074/mcp.M800504-MCP200 DOI 10.1083/jcb.200805124 http://dx.doi.org/10.1083/jcb.200805124 DOI 10.1086/515497 http://dx.doi.org/10.1086/515497 DOI 10.1093/hmg/ddi356 http://dx.doi.org/10.1093/hmg/ddi356 DOI 10.1093/ndt/gfh083 http://dx.doi.org/10.1093/ndt/gfh083 DOI 10.1093/ndt/gfq720 http://dx.doi.org/10.1093/ndt/gfq720 DOI 10.1097/01.ASN.0000061774.90975.25 http://dx.doi.org/10.1097/01.ASN.0000061774.90975.25 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.272.5266.1339 http://dx.doi.org/10.1126/science.272.5266.1339 DOI 10.1126/scisignal.2001570 http://dx.doi.org/10.1126/scisignal.2001570 EMBL AF004859 http://www.ebi.ac.uk/ena/data/view/AF004859 EMBL AF004860 http://www.ebi.ac.uk/ena/data/view/AF004860 EMBL AF004861 http://www.ebi.ac.uk/ena/data/view/AF004861 EMBL AF004862 http://www.ebi.ac.uk/ena/data/view/AF004862 EMBL AF004863 http://www.ebi.ac.uk/ena/data/view/AF004863 EMBL AF004864 http://www.ebi.ac.uk/ena/data/view/AF004864 EMBL AF004865 http://www.ebi.ac.uk/ena/data/view/AF004865 EMBL AF004866 http://www.ebi.ac.uk/ena/data/view/AF004866 EMBL AF004867 http://www.ebi.ac.uk/ena/data/view/AF004867 EMBL AF004868 http://www.ebi.ac.uk/ena/data/view/AF004868 EMBL AF004869 http://www.ebi.ac.uk/ena/data/view/AF004869 EMBL AF004870 http://www.ebi.ac.uk/ena/data/view/AF004870 EMBL AF004871 http://www.ebi.ac.uk/ena/data/view/AF004871 EMBL AF004872 http://www.ebi.ac.uk/ena/data/view/AF004872 EMBL AF004873 http://www.ebi.ac.uk/ena/data/view/AF004873 EMBL BC112261 http://www.ebi.ac.uk/ena/data/view/BC112261 EMBL BC112263 http://www.ebi.ac.uk/ena/data/view/BC112263 EMBL U50928 http://www.ebi.ac.uk/ena/data/view/U50928 EMBL U56813 http://www.ebi.ac.uk/ena/data/view/U56813 Ensembl ENST00000237596 http://www.ensembl.org/id/ENST00000237596 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0002133 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002133 GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GO_component GO:0005789 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005789 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0005911 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005911 GO_component GO:0005929 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005929 GO_component GO:0009925 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009925 GO_component GO:0030027 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030027 GO_component GO:0031514 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031514 GO_component GO:0036064 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0036064 GO_component GO:0045180 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045180 GO_component GO:0060170 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060170 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_component GO:0071458 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071458 GO_component GO:0071556 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071556 GO_component GO:0072686 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0072686 GO_component GO:0097730 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097730 GO_function GO:0005102 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005102 GO_function GO:0005244 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005244 GO_function GO:0005245 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005245 GO_function GO:0005248 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005248 GO_function GO:0005267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005267 GO_function GO:0005509 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005509 GO_function GO:0008092 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008092 GO_function GO:0022843 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022843 GO_function GO:0042802 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042802 GO_function GO:0042803 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042803 GO_function GO:0042805 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042805 GO_function GO:0043398 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043398 GO_function GO:0044325 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044325 GO_function GO:0048763 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048763 GO_function GO:0051117 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051117 GO_function GO:0051219 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051219 GO_process GO:0001658 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001658 GO_process GO:0001889 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001889 GO_process GO:0001892 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001892 GO_process GO:0001947 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001947 GO_process GO:0003127 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003127 GO_process GO:0006816 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006816 GO_process GO:0007050 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007050 GO_process GO:0007259 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007259 GO_process GO:0007368 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007368 GO_process GO:0007507 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007507 GO_process GO:0008285 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008285 GO_process GO:0021510 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021510 GO_process GO:0021915 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021915 GO_process GO:0030814 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030814 GO_process GO:0031587 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031587 GO_process GO:0031659 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031659 GO_process GO:0034614 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034614 GO_process GO:0035502 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035502 GO_process GO:0035725 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035725 GO_process GO:0035904 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035904 GO_process GO:0042127 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042127 GO_process GO:0042994 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042994 GO_process GO:0045429 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045429 GO_process GO:0045944 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045944 GO_process GO:0050982 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050982 GO_process GO:0051209 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051209 GO_process GO:0051298 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051298 GO_process GO:0060315 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060315 GO_process GO:0060674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060674 GO_process GO:0061333 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061333 GO_process GO:0061441 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061441 GO_process GO:0070588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070588 GO_process GO:0071158 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071158 GO_process GO:0071464 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071464 GO_process GO:0071470 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071470 GO_process GO:0071498 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071498 GO_process GO:0071910 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071910 GO_process GO:0072075 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0072075 GO_process GO:0072164 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0072164 GO_process GO:0072177 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0072177 GO_process GO:0072208 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0072208 GO_process GO:0072214 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0072214 GO_process GO:0072218 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0072218 GO_process GO:0072219 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0072219 GO_process GO:0072235 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0072235 GO_process GO:0072284 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0072284 GO_process GO:0090279 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090279 GO_process GO:2000134 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000134 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_component GO:0005815 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005815 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0005929 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005929 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0008092 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008092 GOslim_function GO:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.10.238.10 http://www.cathdb.info/version/latest/superfamily/1.10.238.10 Gene3D 1.20.120.350 http://www.cathdb.info/version/latest/superfamily/1.20.120.350 GeneCards PKD2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=PKD2 GeneID 5311 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=5311 GeneTree ENSGT00700000104221 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00700000104221 HGNC HGNC:9009 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:9009 HOGENOM HOG000230858 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000230858&db=HOGENOM6 HOVERGEN HBG014945 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG014945&db=HOVERGEN HPA CAB004544 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB004544 HPA HPA015794 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA015794 HPA HPA055297 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA055297 InParanoid Q13563 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q13563 IntAct Q13563 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q13563* InterPro IPR002048 http://www.ebi.ac.uk/interpro/entry/IPR002048 InterPro IPR003915 http://www.ebi.ac.uk/interpro/entry/IPR003915 InterPro IPR011992 http://www.ebi.ac.uk/interpro/entry/IPR011992 InterPro IPR013122 http://www.ebi.ac.uk/interpro/entry/IPR013122 InterPro IPR027359 http://www.ebi.ac.uk/interpro/entry/IPR027359 Jabion 5311 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=5311 KEGG_Brite ko03036 http://www.genome.jp/dbget-bin/www_bget?ko03036 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00542 http://www.genome.jp/dbget-bin/www_bget?H00542 KEGG_Gene hsa:5311 http://www.genome.jp/dbget-bin/www_bget?hsa:5311 KEGG_Orthology KO:K04986 http://www.genome.jp/dbget-bin/www_bget?KO:K04986 MIM 173910 http://www.ncbi.nlm.nih.gov/omim/173910 MIM 613095 http://www.ncbi.nlm.nih.gov/omim/613095 MINT MINT-6618167 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-6618167 OMA AWSRDNP http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=AWSRDNP Orphanet 730 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=730 OrthoDB EOG091G034F http://cegg.unige.ch/orthodb/results?searchtext=EOG091G034F PDB 2KLD http://www.ebi.ac.uk/pdbe-srv/view/entry/2KLD PDB 2KLE http://www.ebi.ac.uk/pdbe-srv/view/entry/2KLE PDB 2KQ6 http://www.ebi.ac.uk/pdbe-srv/view/entry/2KQ6 PDB 2Y4Q http://www.ebi.ac.uk/pdbe-srv/view/entry/2Y4Q PDB 3HRN http://www.ebi.ac.uk/pdbe-srv/view/entry/3HRN PDB 3HRO http://www.ebi.ac.uk/pdbe-srv/view/entry/3HRO PDB 5K47 http://www.ebi.ac.uk/pdbe-srv/view/entry/5K47 PDBsum 2KLD http://www.ebi.ac.uk/pdbsum/2KLD PDBsum 2KLE http://www.ebi.ac.uk/pdbsum/2KLE PDBsum 2KQ6 http://www.ebi.ac.uk/pdbsum/2KQ6 PDBsum 2Y4Q http://www.ebi.ac.uk/pdbsum/2Y4Q PDBsum 3HRN http://www.ebi.ac.uk/pdbsum/3HRN PDBsum 3HRO http://www.ebi.ac.uk/pdbsum/3HRO PDBsum 5K47 http://www.ebi.ac.uk/pdbsum/5K47 PRINTS PR01433 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01433 PROSITE PS50222 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50222 PSORT swissprot:PKD2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:PKD2_HUMAN PSORT-B swissprot:PKD2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:PKD2_HUMAN PSORT2 swissprot:PKD2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:PKD2_HUMAN Pfam PF08016 http://pfam.xfam.org/family/PF08016 PharmGKB PA33343 http://www.pharmgkb.org/do/serve?objId=PA33343&objCls=Gene Phobius swissprot:PKD2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:PKD2_HUMAN PhylomeDB Q13563 http://phylomedb.org/?seqid=Q13563 ProteinModelPortal Q13563 http://www.proteinmodelportal.org/query/uniprot/Q13563 PubMed 10411676 http://www.ncbi.nlm.nih.gov/pubmed/10411676 PubMed 10541293 http://www.ncbi.nlm.nih.gov/pubmed/10541293 PubMed 10760273 http://www.ncbi.nlm.nih.gov/pubmed/10760273 PubMed 10835625 http://www.ncbi.nlm.nih.gov/pubmed/10835625 PubMed 10913159 http://www.ncbi.nlm.nih.gov/pubmed/10913159 PubMed 11698076 http://www.ncbi.nlm.nih.gov/pubmed/11698076 PubMed 11968093 http://www.ncbi.nlm.nih.gov/pubmed/11968093 PubMed 12707387 http://www.ncbi.nlm.nih.gov/pubmed/12707387 PubMed 14993477 http://www.ncbi.nlm.nih.gov/pubmed/14993477 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15772804 http://www.ncbi.nlm.nih.gov/pubmed/15772804 PubMed 16192288 http://www.ncbi.nlm.nih.gov/pubmed/16192288 PubMed 18694932 http://www.ncbi.nlm.nih.gov/pubmed/18694932 PubMed 18695040 http://www.ncbi.nlm.nih.gov/pubmed/18695040 PubMed 18837007 http://www.ncbi.nlm.nih.gov/pubmed/18837007 PubMed 19139490 http://www.ncbi.nlm.nih.gov/pubmed/19139490 PubMed 21115670 http://www.ncbi.nlm.nih.gov/pubmed/21115670 PubMed 21406692 http://www.ncbi.nlm.nih.gov/pubmed/21406692 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 8650545 http://www.ncbi.nlm.nih.gov/pubmed/8650545 PubMed 8954772 http://www.ncbi.nlm.nih.gov/pubmed/8954772 PubMed 9286709 http://www.ncbi.nlm.nih.gov/pubmed/9286709 PubMed 9326320 http://www.ncbi.nlm.nih.gov/pubmed/9326320 Reactome R-HSA-5620916 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5620916 RefSeq NP_000288 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000288 SMR Q13563 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q13563 STRING 9606.ENSP00000237596 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000237596&targetmode=cogs SUPFAM SSF47473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF47473 TCDB 1.A.5.2 http://www.tcdb.org/search/result.php?tc=1.A.5.2 UCSC uc003hre http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003hre&org=rat UniGene Hs.181272 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.181272 UniProtKB PKD2_HUMAN http://www.uniprot.org/uniprot/PKD2_HUMAN UniProtKB-AC Q13563 http://www.uniprot.org/uniprot/Q13563 charge swissprot:PKD2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:PKD2_HUMAN eggNOG ENOG410XTGE http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XTGE eggNOG KOG3599 http://eggnogapi.embl.de/nog_data/html/tree/KOG3599 epestfind swissprot:PKD2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:PKD2_HUMAN garnier swissprot:PKD2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:PKD2_HUMAN helixturnhelix swissprot:PKD2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:PKD2_HUMAN hmoment swissprot:PKD2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:PKD2_HUMAN iep swissprot:PKD2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:PKD2_HUMAN inforesidue swissprot:PKD2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:PKD2_HUMAN neXtProt NX_Q13563 http://www.nextprot.org/db/entry/NX_Q13563 octanol swissprot:PKD2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:PKD2_HUMAN pepcoil swissprot:PKD2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:PKD2_HUMAN pepdigest swissprot:PKD2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:PKD2_HUMAN pepinfo swissprot:PKD2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:PKD2_HUMAN pepnet swissprot:PKD2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:PKD2_HUMAN pepstats swissprot:PKD2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:PKD2_HUMAN pepwheel swissprot:PKD2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:PKD2_HUMAN pepwindow swissprot:PKD2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:PKD2_HUMAN sigcleave swissprot:PKD2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:PKD2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS TUSC3_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q13454-1; Sequence=Displayed; Name=2; IsoId=Q13454-2; Sequence=VSP_003776; # AltName TUSC3_HUMAN Magnesium uptake/transporter TUSC3 # AltName TUSC3_HUMAN Protein N33 # BioGrid 113701 22 # CCDS CCDS5993 -. [Q13454-2] # CCDS CCDS5994 -. [Q13454-1] # ChiTaRS TUSC3 human # DISEASE TUSC3_HUMAN Mental retardation, autosomal recessive 7 (MRT7) [MIM 611093] A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO 0000269|PubMed 18452889, ECO 0000269|PubMed 18455129}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000382020 ENSP00000371450; ENSG00000104723. [Q13454-2] # Ensembl ENST00000503731 ENSP00000424544; ENSG00000104723. [Q13454-1] # ExpressionAtlas Q13454 baseline and differential # FUNCTION TUSC3_HUMAN Magnesium transporter (PubMed 19717468). May be involved in N-glycosylation through its association with N-oligosaccharyl transferase (PubMed 24685145). {ECO 0000269|PubMed 19717468, ECO 0000303|PubMed 12887896, ECO 0000303|PubMed 24685145}. # GO_component GO:0005739 mitochondrion; ISS:UniProtKB. # GO_component GO:0005789 endoplasmic reticulum membrane; TAS:Reactome. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; NAS:UniProtKB. # GO_component GO:0008250 oligosaccharyltransferase complex; IDA:HGNC. # GO_function GO:0015095 magnesium ion transmembrane transporter activity; IMP:UniProtKB. # GO_process GO:0006487 protein N-linked glycosylation; NAS:UniProtKB. # GO_process GO:0015693 magnesium ion transport; IMP:UniProtKB. # GO_process GO:0018279 protein N-linked glycosylation via asparagine; ISS:UniProtKB. # GO_process GO:0050890 cognition; IMP:UniProtKB. # GO_process GO:0055085 transmembrane transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005739 mitochondrion # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006464 cellular protein modification process # GOslim_process GO:0006810 transport # GOslim_process GO:0050877 neurological system process # GOslim_process GO:0055085 transmembrane transport # Gene3D 3.40.30.10 -; 1. # Genevisible Q13454 HS # HGNC HGNC:30242 TUSC3 # InterPro IPR012336 Thioredoxin-like_fold # InterPro IPR021149 OligosaccharylTrfase_OST3/OST6 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Disease H00768 [Congenital disorder; Mental retardation] Nonsyndromic autosomal recessive mental retardation (NS-ARMR) # KEGG_Pathway ko00510 N-Glycan biosynthesis # KEGG_Pathway ko00513 Various types of N-glycan biosynthesis # KEGG_Pathway ko04141 Protein processing in endoplasmic reticulum # MIM 601385 gene # MIM 611093 phenotype # Organism TUSC3_HUMAN Homo sapiens (Human) # Orphanet 88616 Autosomal recessive non-syndromic intellectual disability # PDB 4M8G X-ray; 2.00 A; A/B=44-194 # PDB 4M90 X-ray; 1.60 A; A=44-194 # PDB 4M91 X-ray; 1.10 A; A=44-194 # PDB 4M92 X-ray; 1.60 A; A=44-194 # PIR G02297 G02297 # Pfam PF04756 OST3_OST6 # Proteomes UP000005640 Chromosome 8 # Reactome R-HSA-446203 Asparagine N-linked glycosylation # Reactome R-HSA-5223345 Miscellaneous transport and binding events # RecName TUSC3_HUMAN Tumor suppressor candidate 3 # RefSeq NP_006756 NM_006765.3. [Q13454-1] # RefSeq NP_839952 NM_178234.2. [Q13454-2] # SIMILARITY Belongs to the OST3/OST6 family. {ECO 0000305}. # SIMILARITY Contains 1 thioredoxin domain. {ECO 0000305}. # SUBCELLULAR LOCATION TUSC3_HUMAN Endoplasmic reticulum membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. # SUBUNIT Weakly associates with the oligosaccharyl transferase (OST) complex which contains at least RPN1/ribophorin I, RPN2/ribophorin II, OST48, DAD1, and either STT3A or STT3B. {ECO:0000250, ECO 0000303|PubMed:12887896}. # SUPFAM SSF52833 SSF52833 # TCDB 1.A.76.1 the magnesium transporter1 (magt1) family # TISSUE SPECIFICITY Expressed in most non-lymphoid cells and tissues examined, including prostate, lung, liver, colon, heart, kidney and pancreas. {ECO:0000269|PubMed 12887896}. # UCSC uc003wwt human. [Q13454-1] # eggNOG ENOG410XR1F LUCA # eggNOG KOG2603 Eukaryota BLAST swissprot:TUSC3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:TUSC3_HUMAN BioCyc ZFISH:ENSG00000104723-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000104723-MONOMER COXPRESdb 7991 http://coxpresdb.jp/data/gene/7991.shtml CleanEx HS_TUSC3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_TUSC3 DOI 10.1006/geno.1996.0322 http://dx.doi.org/10.1006/geno.1996.0322 DOI 10.1016/S1097-2765(03)00243-0 http://dx.doi.org/10.1016/S1097-2765(03)00243-0 DOI 10.1016/j.ajhg.2008.03.018 http://dx.doi.org/10.1016/j.ajhg.2008.03.018 DOI 10.1016/j.ajhg.2008.03.021 http://dx.doi.org/10.1016/j.ajhg.2008.03.021 DOI 10.1016/j.str.2014.02.013 http://dx.doi.org/10.1016/j.str.2014.02.013 DOI 10.1038/nature04406 http://dx.doi.org/10.1038/nature04406 DOI 10.1056/NEJMoa1206524 http://dx.doi.org/10.1056/NEJMoa1206524 DOI 10.1073/pnas.0908332106 http://dx.doi.org/10.1073/pnas.0908332106 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AC010656 http://www.ebi.ac.uk/ena/data/view/AC010656 EMBL AC019292 http://www.ebi.ac.uk/ena/data/view/AC019292 EMBL AC091559 http://www.ebi.ac.uk/ena/data/view/AC091559 EMBL AC100850 http://www.ebi.ac.uk/ena/data/view/AC100850 EMBL BC010370 http://www.ebi.ac.uk/ena/data/view/BC010370 EMBL BT020002 http://www.ebi.ac.uk/ena/data/view/BT020002 EMBL CH471080 http://www.ebi.ac.uk/ena/data/view/CH471080 EMBL CH471080 http://www.ebi.ac.uk/ena/data/view/CH471080 EMBL U42349 http://www.ebi.ac.uk/ena/data/view/U42349 EMBL U42350 http://www.ebi.ac.uk/ena/data/view/U42350 EMBL U42350 http://www.ebi.ac.uk/ena/data/view/U42350 EMBL U42351 http://www.ebi.ac.uk/ena/data/view/U42351 EMBL U42351 http://www.ebi.ac.uk/ena/data/view/U42351 EMBL U42352 http://www.ebi.ac.uk/ena/data/view/U42352 EMBL U42352 http://www.ebi.ac.uk/ena/data/view/U42352 EMBL U42354 http://www.ebi.ac.uk/ena/data/view/U42354 EMBL U42354 http://www.ebi.ac.uk/ena/data/view/U42354 EMBL U42355 http://www.ebi.ac.uk/ena/data/view/U42355 EMBL U42355 http://www.ebi.ac.uk/ena/data/view/U42355 EMBL U42356 http://www.ebi.ac.uk/ena/data/view/U42356 EMBL U42356 http://www.ebi.ac.uk/ena/data/view/U42356 EMBL U42357 http://www.ebi.ac.uk/ena/data/view/U42357 EMBL U42357 http://www.ebi.ac.uk/ena/data/view/U42357 EMBL U42358 http://www.ebi.ac.uk/ena/data/view/U42358 EMBL U42358 http://www.ebi.ac.uk/ena/data/view/U42358 EMBL U42359 http://www.ebi.ac.uk/ena/data/view/U42359 EMBL U42360 http://www.ebi.ac.uk/ena/data/view/U42360 Ensembl ENST00000382020 http://www.ensembl.org/id/ENST00000382020 Ensembl ENST00000503731 http://www.ensembl.org/id/ENST00000503731 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005789 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005789 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0008250 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008250 GO_function GO:0015095 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015095 GO_process GO:0006487 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006487 GO_process GO:0015693 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015693 GO_process GO:0018279 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0018279 GO_process GO:0050890 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050890 GO_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006464 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006464 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 3.40.30.10 http://www.cathdb.info/version/latest/superfamily/3.40.30.10 GeneCards TUSC3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=TUSC3 GeneID 7991 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=7991 GeneTree ENSGT00390000012030 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000012030 HGNC HGNC:30242 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:30242 HOGENOM HOG000231301 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231301&db=HOGENOM6 HOVERGEN HBG002493 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG002493&db=HOVERGEN HPA HPA049851 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA049851 HPA HPA049974 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA049974 InParanoid Q13454 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q13454 IntAct Q13454 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q13454* InterPro IPR012336 http://www.ebi.ac.uk/interpro/entry/IPR012336 InterPro IPR021149 http://www.ebi.ac.uk/interpro/entry/IPR021149 Jabion 7991 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=7991 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00002 http://www.genome.jp/dbget-bin/www_bget?ko00002 KEGG_Disease H00768 http://www.genome.jp/dbget-bin/www_bget?H00768 KEGG_Gene hsa:7991 http://www.genome.jp/dbget-bin/www_bget?hsa:7991 KEGG_Orthology KO:K12669 http://www.genome.jp/dbget-bin/www_bget?KO:K12669 KEGG_Pathway ko00510 http://www.genome.jp/kegg-bin/show_pathway?ko00510 KEGG_Pathway ko00513 http://www.genome.jp/kegg-bin/show_pathway?ko00513 KEGG_Pathway ko04141 http://www.genome.jp/kegg-bin/show_pathway?ko04141 MIM 601385 http://www.ncbi.nlm.nih.gov/omim/601385 MIM 611093 http://www.ncbi.nlm.nih.gov/omim/611093 MINT MINT-1192091 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1192091 OMA DLIARSW http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=DLIARSW Orphanet 88616 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=88616 OrthoDB EOG091G0ERM http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0ERM PDB 4M8G http://www.ebi.ac.uk/pdbe-srv/view/entry/4M8G PDB 4M90 http://www.ebi.ac.uk/pdbe-srv/view/entry/4M90 PDB 4M91 http://www.ebi.ac.uk/pdbe-srv/view/entry/4M91 PDB 4M92 http://www.ebi.ac.uk/pdbe-srv/view/entry/4M92 PDBsum 4M8G http://www.ebi.ac.uk/pdbsum/4M8G PDBsum 4M90 http://www.ebi.ac.uk/pdbsum/4M90 PDBsum 4M91 http://www.ebi.ac.uk/pdbsum/4M91 PDBsum 4M92 http://www.ebi.ac.uk/pdbsum/4M92 PSORT swissprot:TUSC3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:TUSC3_HUMAN PSORT-B swissprot:TUSC3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:TUSC3_HUMAN PSORT2 swissprot:TUSC3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:TUSC3_HUMAN Pfam PF04756 http://pfam.xfam.org/family/PF04756 PharmGKB PA128394537 http://www.pharmgkb.org/do/serve?objId=PA128394537&objCls=Gene Phobius swissprot:TUSC3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:TUSC3_HUMAN PhylomeDB Q13454 http://phylomedb.org/?seqid=Q13454 ProteinModelPortal Q13454 http://www.proteinmodelportal.org/query/uniprot/Q13454 PubMed 12887896 http://www.ncbi.nlm.nih.gov/pubmed/12887896 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16421571 http://www.ncbi.nlm.nih.gov/pubmed/16421571 PubMed 18452889 http://www.ncbi.nlm.nih.gov/pubmed/18452889 PubMed 18455129 http://www.ncbi.nlm.nih.gov/pubmed/18455129 PubMed 19717468 http://www.ncbi.nlm.nih.gov/pubmed/19717468 PubMed 23033978 http://www.ncbi.nlm.nih.gov/pubmed/23033978 PubMed 24685145 http://www.ncbi.nlm.nih.gov/pubmed/24685145 PubMed 8661104 http://www.ncbi.nlm.nih.gov/pubmed/8661104 Reactome R-HSA-446203 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-446203 Reactome R-HSA-5223345 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5223345 RefSeq NP_006756 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_006756 RefSeq NP_839952 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_839952 SMR Q13454 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q13454 STRING 9606.ENSP00000221167 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000221167&targetmode=cogs SUPFAM SSF52833 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52833 TCDB 1.A.76.1 http://www.tcdb.org/search/result.php?tc=1.A.76.1 UCSC uc003wwt http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003wwt&org=rat UniGene Hs.426324 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.426324 UniGene Hs.600825 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.600825 UniProtKB TUSC3_HUMAN http://www.uniprot.org/uniprot/TUSC3_HUMAN UniProtKB-AC Q13454 http://www.uniprot.org/uniprot/Q13454 charge swissprot:TUSC3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:TUSC3_HUMAN eggNOG ENOG410XR1F http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XR1F eggNOG KOG2603 http://eggnogapi.embl.de/nog_data/html/tree/KOG2603 epestfind swissprot:TUSC3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:TUSC3_HUMAN garnier swissprot:TUSC3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:TUSC3_HUMAN helixturnhelix swissprot:TUSC3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:TUSC3_HUMAN hmoment swissprot:TUSC3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:TUSC3_HUMAN iep swissprot:TUSC3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:TUSC3_HUMAN inforesidue swissprot:TUSC3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:TUSC3_HUMAN neXtProt NX_Q13454 http://www.nextprot.org/db/entry/NX_Q13454 octanol swissprot:TUSC3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:TUSC3_HUMAN pepcoil swissprot:TUSC3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:TUSC3_HUMAN pepdigest swissprot:TUSC3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:TUSC3_HUMAN pepinfo swissprot:TUSC3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:TUSC3_HUMAN pepnet swissprot:TUSC3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:TUSC3_HUMAN pepstats swissprot:TUSC3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:TUSC3_HUMAN pepwheel swissprot:TUSC3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:TUSC3_HUMAN pepwindow swissprot:TUSC3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:TUSC3_HUMAN sigcleave swissprot:TUSC3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:TUSC3_HUMAN ## Database ID URL or Descriptions # AltName RAMP1_HUMAN Calcitonin-receptor-like receptor activity-modifying protein 1 # BioGrid 115558 5 # ChiTaRS RAMP1 human # DrugBank DB01278 Pramlintide # Ensembl ENST00000254661 ENSP00000254661; ENSG00000132329 # ExpressionAtlas O60894 baseline and differential # FUNCTION RAMP1_HUMAN Transports the calcitonin gene-related peptide type 1 receptor (CALCRL) to the plasma membrane. Acts as a receptor for calcitonin-gene-related peptide (CGRP) together with CALCRL. {ECO 0000269|PubMed 9620797}. # GO_component GO:0005615 extracellular space; IEA:Ensembl. # GO_component GO:0005622 intracellular; IEA:GOC. # GO_component GO:0005886 plasma membrane; IDA:BHF-UCL. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0009986 cell surface; IDA:UniProtKB. # GO_component GO:0043235 receptor complex; IDA:UniProtKB. # GO_function GO:0004872 receptor activity; IDA:UniProtKB. # GO_function GO:0004948 calcitonin receptor activity; IDA:UniProtKB. # GO_function GO:0008565 protein transporter activity; IDA:UniProtKB. # GO_function GO:0015026 coreceptor activity; IEA:Ensembl. # GO_function GO:0031716 calcitonin receptor binding; IPI:UniProtKB. # GO_process GO:0001525 angiogenesis; IDA:UniProtKB. # GO_process GO:0006816 calcium ion transport; IDA:UniProtKB. # GO_process GO:0006886 intracellular protein transport; IEA:InterPro. # GO_process GO:0008277 regulation of G-protein coupled receptor protein signaling pathway; IDA:UniProtKB. # GO_process GO:0015031 protein transport; IDA:UniProtKB. # GO_process GO:0030819 positive regulation of cAMP biosynthetic process; IDA:UniProtKB. # GO_process GO:0031623 receptor internalization; IDA:UniProtKB. # GO_process GO:0060050 positive regulation of protein glycosylation; IDA:UniProtKB. # GO_process GO:0072659 protein localization to plasma membrane; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005615 extracellular space # GOslim_component GO:0005622 intracellular # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0008565 protein transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007009 plasma membrane organization # GOslim_process GO:0008150 biological_process # GOslim_process GO:0016192 vesicle-mediated transport # GOslim_process GO:0048646 anatomical structure formation involved in morphogenesis # Genevisible O60894 HS # HGNC HGNC:9843 RAMP1 # InterPro IPR006985 RAMP # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04030 G protein-coupled receptors # KEGG_Pathway ko04270 Vascular smooth muscle contraction # MIM 605153 gene # Organism RAMP1_HUMAN Homo sapiens (Human) # PANTHER PTHR14076 PTHR14076 # PDB 2YX8 X-ray; 2.40 A; A=27-112 # PDB 3N7P X-ray; 2.80 A; D/E/F/R=26-117 # PDB 3N7R X-ray; 2.90 A; C/D=26-117 # PDB 3N7S X-ray; 2.10 A; C/D=26-117 # PDB 4RWG X-ray; 2.44 A; A/B/C=24-108 # Pfam PF04901 RAMP # Proteomes UP000005640 Chromosome 2 # Reactome R-HSA-418555 G alpha (s) signalling events # Reactome R-HSA-419812 Calcitonin-like ligand receptors # RecName RAMP1_HUMAN Receptor activity-modifying protein 1 # RefSeq NP_005846 NM_005855.3 # SIMILARITY Belongs to the RAMP family. {ECO 0000305}. # SUBCELLULAR LOCATION RAMP1_HUMAN Membrane; Single-pass type I membrane protein. # SUBUNIT RAMP1_HUMAN Heterodimer of CALCRL and RAMP1. {ECO 0000269|PubMed 18725456, ECO 0000269|PubMed 20826335}. # TISSUE SPECIFICITY Expressed in many tissues including the uterus, bladder, brain, pancreas and gastro-intestinal tract. {ECO:0000269|PubMed 9620797}. # UCSC uc002vxj human # eggNOG ENOG410IZHQ Eukaryota # eggNOG ENOG4111NGJ LUCA BLAST swissprot:RAMP1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:RAMP1_HUMAN BioCyc ZFISH:ENSG00000132329-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000132329-MONOMER COXPRESdb 10267 http://coxpresdb.jp/data/gene/10267.shtml CleanEx HS_RAMP1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_RAMP1 DIP DIP-37675N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-37675N DOI 10.1016/j.str.2010.05.014 http://dx.doi.org/10.1016/j.str.2010.05.014 DOI 10.1038/30666 http://dx.doi.org/10.1038/30666 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1110/ps.036012.108 http://dx.doi.org/10.1110/ps.036012.108 DrugBank DB01278 http://www.drugbank.ca/drugs/DB01278 EMBL AJ001014 http://www.ebi.ac.uk/ena/data/view/AJ001014 EMBL AY265457 http://www.ebi.ac.uk/ena/data/view/AY265457 EMBL BC000548 http://www.ebi.ac.uk/ena/data/view/BC000548 EMBL CH471063 http://www.ebi.ac.uk/ena/data/view/CH471063 EMBL CR542032 http://www.ebi.ac.uk/ena/data/view/CR542032 EMBL CR542044 http://www.ebi.ac.uk/ena/data/view/CR542044 Ensembl ENST00000254661 http://www.ensembl.org/id/ENST00000254661 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005615 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005615 GO_component GO:0005622 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005622 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0009986 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009986 GO_component GO:0043235 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043235 GO_function GO:0004872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004872 GO_function GO:0004948 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004948 GO_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GO_function GO:0015026 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015026 GO_function GO:0031716 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031716 GO_process GO:0001525 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001525 GO_process GO:0006816 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006816 GO_process GO:0006886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006886 GO_process GO:0008277 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008277 GO_process GO:0015031 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015031 GO_process GO:0030819 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030819 GO_process GO:0031623 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031623 GO_process GO:0060050 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060050 GO_process GO:0072659 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0072659 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005615 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005615 GOslim_component GO:0005622 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005622 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007009 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007009 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0016192 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016192 GOslim_process GO:0048646 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048646 GeneCards RAMP1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=RAMP1 GeneID 10267 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=10267 GeneTree ENSGT00390000016200 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000016200 HGNC HGNC:9843 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:9843 HOGENOM HOG000253018 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000253018&db=HOGENOM6 HOVERGEN HBG061268 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG061268&db=HOVERGEN HPA HPA057814 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA057814 InParanoid O60894 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O60894 IntAct O60894 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O60894* InterPro IPR006985 http://www.ebi.ac.uk/interpro/entry/IPR006985 Jabion 10267 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=10267 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04030 http://www.genome.jp/dbget-bin/www_bget?ko04030 KEGG_Gene hsa:10267 http://www.genome.jp/dbget-bin/www_bget?hsa:10267 KEGG_Orthology KO:K08447 http://www.genome.jp/dbget-bin/www_bget?KO:K08447 KEGG_Pathway ko04270 http://www.genome.jp/kegg-bin/show_pathway?ko04270 MIM 605153 http://www.ncbi.nlm.nih.gov/omim/605153 OMA WRSKRPE http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=WRSKRPE OrthoDB EOG091G0KY6 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0KY6 PANTHER PTHR14076 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR14076 PDB 2YX8 http://www.ebi.ac.uk/pdbe-srv/view/entry/2YX8 PDB 3N7P http://www.ebi.ac.uk/pdbe-srv/view/entry/3N7P PDB 3N7R http://www.ebi.ac.uk/pdbe-srv/view/entry/3N7R PDB 3N7S http://www.ebi.ac.uk/pdbe-srv/view/entry/3N7S PDB 4RWG http://www.ebi.ac.uk/pdbe-srv/view/entry/4RWG PDBsum 2YX8 http://www.ebi.ac.uk/pdbsum/2YX8 PDBsum 3N7P http://www.ebi.ac.uk/pdbsum/3N7P PDBsum 3N7R http://www.ebi.ac.uk/pdbsum/3N7R PDBsum 3N7S http://www.ebi.ac.uk/pdbsum/3N7S PDBsum 4RWG http://www.ebi.ac.uk/pdbsum/4RWG PSORT swissprot:RAMP1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:RAMP1_HUMAN PSORT-B swissprot:RAMP1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:RAMP1_HUMAN PSORT2 swissprot:RAMP1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:RAMP1_HUMAN Pfam PF04901 http://pfam.xfam.org/family/PF04901 PharmGKB PA34202 http://www.pharmgkb.org/do/serve?objId=PA34202&objCls=Gene Phobius swissprot:RAMP1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:RAMP1_HUMAN PhylomeDB O60894 http://phylomedb.org/?seqid=O60894 ProteinModelPortal O60894 http://www.proteinmodelportal.org/query/uniprot/O60894 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 18725456 http://www.ncbi.nlm.nih.gov/pubmed/18725456 PubMed 20826335 http://www.ncbi.nlm.nih.gov/pubmed/20826335 PubMed 9620797 http://www.ncbi.nlm.nih.gov/pubmed/9620797 Reactome R-HSA-418555 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-418555 Reactome R-HSA-419812 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-419812 RefSeq NP_005846 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_005846 SMR O60894 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=O60894 STRING 9606.ENSP00000254661 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000254661&targetmode=cogs UCSC uc002vxj http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002vxj&org=rat UniGene Hs.471783 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.471783 UniProtKB RAMP1_HUMAN http://www.uniprot.org/uniprot/RAMP1_HUMAN UniProtKB-AC O60894 http://www.uniprot.org/uniprot/O60894 charge swissprot:RAMP1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:RAMP1_HUMAN eggNOG ENOG410IZHQ http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IZHQ eggNOG ENOG4111NGJ http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111NGJ epestfind swissprot:RAMP1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:RAMP1_HUMAN garnier swissprot:RAMP1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:RAMP1_HUMAN helixturnhelix swissprot:RAMP1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:RAMP1_HUMAN hmoment swissprot:RAMP1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:RAMP1_HUMAN iep swissprot:RAMP1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:RAMP1_HUMAN inforesidue swissprot:RAMP1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:RAMP1_HUMAN neXtProt NX_O60894 http://www.nextprot.org/db/entry/NX_O60894 octanol swissprot:RAMP1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:RAMP1_HUMAN pepcoil swissprot:RAMP1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:RAMP1_HUMAN pepdigest swissprot:RAMP1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:RAMP1_HUMAN pepinfo swissprot:RAMP1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:RAMP1_HUMAN pepnet swissprot:RAMP1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:RAMP1_HUMAN pepstats swissprot:RAMP1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:RAMP1_HUMAN pepwheel swissprot:RAMP1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:RAMP1_HUMAN pepwindow swissprot:RAMP1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:RAMP1_HUMAN sigcleave swissprot:RAMP1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:RAMP1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS KCNC4_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q03721-1; Sequence=Displayed; Name=2; IsoId=Q03721-2; Sequence=VSP_020581, VSP_020582; Note=Could be a cloning artifact.; Name=3; IsoId=Q03721-3; Sequence=VSP_040033; Note=Gene prediction based on EST data.; # AltName KCNC4_HUMAN KSHIIIC # AltName KCNC4_HUMAN Voltage-gated potassium channel subunit Kv3.4 # BioGrid 109951 27 # CCDS CCDS44193 -. [Q03721-3] # CCDS CCDS821 -. [Q03721-1] # DOMAIN KCNC4_HUMAN The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position. # DOMAIN KCNC4_HUMAN The tail may be important in modulation of channel activity and/or targeting of the channel to specific subcellular compartments. # Ensembl ENST00000369787 ENSP00000358802; ENSG00000116396. [Q03721-1] # Ensembl ENST00000438661 ENSP00000393655; ENSG00000116396. [Q03721-3] # Ensembl ENST00000469655 ENSP00000436656; ENSG00000116396. [Q03721-1] # ExpressionAtlas Q03721 baseline and differential # FUNCTION KCNC4_HUMAN This protein mediates the voltage-dependent potassium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a potassium-selective channel through which potassium ions may pass in accordance with their electrochemical gradient. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0008076 voltage-gated potassium channel complex; TAS:ProtInc. # GO_component GO:0031594 neuromuscular junction; IEA:Ensembl. # GO_component GO:0043679 axon terminus; IEA:Ensembl. # GO_function GO:0005249 voltage-gated potassium channel activity; TAS:ProtInc. # GO_function GO:0005251 delayed rectifier potassium channel activity; IBA:GO_Central. # GO_function GO:0005267 potassium channel activity; TAS:ProtInc. # GO_process GO:0006813 potassium ion transport; TAS:ProtInc. # GO_process GO:0007268 chemical synaptic transmission; TAS:ProtInc. # GO_process GO:0046928 regulation of neurotransmitter secretion; IEA:Ensembl. # GO_process GO:0051260 protein homooligomerization; IEA:InterPro. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # Gene3D 1.20.120.350 -; 1. # Genevisible Q03721 HS # HGNC HGNC:6236 KCNC4 # InterPro IPR000210 BTB/POZ_dom # InterPro IPR003131 T1-type_BTB # InterPro IPR003968 K_chnl_volt-dep_Kv # InterPro IPR003974 K_chnl_volt-dep_Kv3 # InterPro IPR005405 K_chnl_volt-dep_Kv3.4 # InterPro IPR005821 Ion_trans_dom # InterPro IPR011333 SKP1/BTB/POZ # InterPro IPR021105 K_chnl_volt-dep_Kv3_ID # InterPro IPR027359 Channel_four-helix_dom # InterPro IPR028325 VG_K_chnl # KEGG_Brite ko04040 Ion channels # MIM 176265 gene # Organism KCNC4_HUMAN Homo sapiens (Human) # PANTHER PTHR11537 PTHR11537; 3 # PDB 1B4G NMR; -; A=1-30 # PDB 1B4I NMR; -; A=1-30 # PDB 1ZTN NMR; -; A=1-30 # PRINTS PR00169 KCHANNEL # PRINTS PR01491 KVCHANNEL # PRINTS PR01498 SHAWCHANNEL # PRINTS PR01583 KV34CHANNEL # PTM KCNC4_HUMAN Phosphorylation of serine residues in the inactivation gate inhibits rapid channel closure. {ECO 0000269|PubMed 7993631, ECO 0000269|PubMed 9649584}. # Pfam PF00520 Ion_trans # Pfam PF02214 BTB_2 # Pfam PF11404 Potassium_chann # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-1296072 Voltage gated Potassium channels # RecName KCNC4_HUMAN Potassium voltage-gated channel subfamily C member 4 # RefSeq NP_001034663 NM_001039574.2. [Q03721-3] # RefSeq NP_004969 NM_004978.4. [Q03721-1] # SIMILARITY Belongs to the potassium channel family. C (Shaw) (TC 1.A.1.2) subfamily. Kv3.4/KCNC4 sub-subfamily. {ECO 0000305}. # SMART SM00225 BTB # SUBCELLULAR LOCATION KCNC4_HUMAN Membrane; Multi-pass membrane protein. # SUBUNIT Homotetramer (Probable). Heterotetramer of potassium channel proteins (By similarity). {ECO:0000250, ECO 0000305}. # SUPFAM SSF54695 SSF54695 # TopDownProteomics Q03721-3 -. [Q03721-3] # UCSC uc001dzg human. [Q03721-1] # eggNOG COG1226 LUCA # eggNOG KOG3713 Eukaryota BLAST swissprot:KCNC4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCNC4_HUMAN BioCyc ZFISH:ENSG00000116396-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000116396-MONOMER COXPRESdb 3749 http://coxpresdb.jp/data/gene/3749.shtml CleanEx HS_KCNC4 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNC4 DOI 10.1016/0896-6273(94)90425-1 http://dx.doi.org/10.1016/0896-6273(94)90425-1 DOI 10.1038/385272a0 http://dx.doi.org/10.1038/385272a0 DOI 10.1038/5833 http://dx.doi.org/10.1038/5833 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1085/jgp.112.1.71 http://dx.doi.org/10.1085/jgp.112.1.71 DOI 10.1098/rspb.1992.0036 http://dx.doi.org/10.1098/rspb.1992.0036 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AL137790 http://www.ebi.ac.uk/ena/data/view/AL137790 EMBL BC019010 http://www.ebi.ac.uk/ena/data/view/BC019010 EMBL BC101769 http://www.ebi.ac.uk/ena/data/view/BC101769 EMBL M64676 http://www.ebi.ac.uk/ena/data/view/M64676 Ensembl ENST00000369787 http://www.ensembl.org/id/ENST00000369787 Ensembl ENST00000438661 http://www.ensembl.org/id/ENST00000438661 Ensembl ENST00000469655 http://www.ensembl.org/id/ENST00000469655 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0008076 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008076 GO_component GO:0031594 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031594 GO_component GO:0043679 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043679 GO_function GO:0005249 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005249 GO_function GO:0005251 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005251 GO_function GO:0005267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005267 GO_process GO:0006813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006813 GO_process GO:0007268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007268 GO_process GO:0046928 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046928 GO_process GO:0051260 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051260 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 Gene3D 1.20.120.350 http://www.cathdb.info/version/latest/superfamily/1.20.120.350 GeneCards KCNC4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNC4 GeneID 3749 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=3749 GeneTree ENSGT00760000118846 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118846 H-InvDB HIX0023584 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0023584 HGNC HGNC:6236 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6236 HOGENOM HOG000231012 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231012&db=HOGENOM6 HOVERGEN HBG105862 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG105862&db=HOVERGEN HPA HPA014740 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA014740 InParanoid Q03721 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q03721 IntAct Q03721 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q03721* InterPro IPR000210 http://www.ebi.ac.uk/interpro/entry/IPR000210 InterPro IPR003131 http://www.ebi.ac.uk/interpro/entry/IPR003131 InterPro IPR003968 http://www.ebi.ac.uk/interpro/entry/IPR003968 InterPro IPR003974 http://www.ebi.ac.uk/interpro/entry/IPR003974 InterPro IPR005405 http://www.ebi.ac.uk/interpro/entry/IPR005405 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR011333 http://www.ebi.ac.uk/interpro/entry/IPR011333 InterPro IPR021105 http://www.ebi.ac.uk/interpro/entry/IPR021105 InterPro IPR027359 http://www.ebi.ac.uk/interpro/entry/IPR027359 InterPro IPR028325 http://www.ebi.ac.uk/interpro/entry/IPR028325 Jabion 3749 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=3749 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:3749 http://www.genome.jp/dbget-bin/www_bget?hsa:3749 KEGG_Orthology KO:K04890 http://www.genome.jp/dbget-bin/www_bget?KO:K04890 MIM 176265 http://www.ncbi.nlm.nih.gov/omim/176265 OMA GCEFFFD http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=GCEFFFD OrthoDB EOG091G0EJL http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0EJL PANTHER PTHR11537 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11537 PDB 1B4G http://www.ebi.ac.uk/pdbe-srv/view/entry/1B4G PDB 1B4I http://www.ebi.ac.uk/pdbe-srv/view/entry/1B4I PDB 1ZTN http://www.ebi.ac.uk/pdbe-srv/view/entry/1ZTN PDBsum 1B4G http://www.ebi.ac.uk/pdbsum/1B4G PDBsum 1B4I http://www.ebi.ac.uk/pdbsum/1B4I PDBsum 1ZTN http://www.ebi.ac.uk/pdbsum/1ZTN PRINTS PR00169 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00169 PRINTS PR01491 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01491 PRINTS PR01498 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01498 PRINTS PR01583 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01583 PSORT swissprot:KCNC4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCNC4_HUMAN PSORT-B swissprot:KCNC4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCNC4_HUMAN PSORT2 swissprot:KCNC4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCNC4_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF02214 http://pfam.xfam.org/family/PF02214 Pfam PF11404 http://pfam.xfam.org/family/PF11404 PharmGKB PA30028 http://www.pharmgkb.org/do/serve?objId=PA30028&objCls=Gene Phobius swissprot:KCNC4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCNC4_HUMAN PhylomeDB Q03721 http://phylomedb.org/?seqid=Q03721 ProteinModelPortal Q03721 http://www.proteinmodelportal.org/query/uniprot/Q03721 PubMed 10048926 http://www.ncbi.nlm.nih.gov/pubmed/10048926 PubMed 1381835 http://www.ncbi.nlm.nih.gov/pubmed/1381835 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 7993631 http://www.ncbi.nlm.nih.gov/pubmed/7993631 PubMed 9000078 http://www.ncbi.nlm.nih.gov/pubmed/9000078 PubMed 9649584 http://www.ncbi.nlm.nih.gov/pubmed/9649584 Reactome R-HSA-1296072 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1296072 RefSeq NP_001034663 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001034663 RefSeq NP_004969 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004969 SMART SM00225 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00225 SMR Q03721 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q03721 STRING 9606.ENSP00000358802 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000358802&targetmode=cogs SUPFAM SSF54695 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF54695 UCSC uc001dzg http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001dzg&org=rat UniGene Hs.153521 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.153521 UniProtKB KCNC4_HUMAN http://www.uniprot.org/uniprot/KCNC4_HUMAN UniProtKB-AC Q03721 http://www.uniprot.org/uniprot/Q03721 charge swissprot:KCNC4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCNC4_HUMAN eggNOG COG1226 http://eggnogapi.embl.de/nog_data/html/tree/COG1226 eggNOG KOG3713 http://eggnogapi.embl.de/nog_data/html/tree/KOG3713 epestfind swissprot:KCNC4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCNC4_HUMAN garnier swissprot:KCNC4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCNC4_HUMAN helixturnhelix swissprot:KCNC4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCNC4_HUMAN hmoment swissprot:KCNC4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCNC4_HUMAN iep swissprot:KCNC4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCNC4_HUMAN inforesidue swissprot:KCNC4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCNC4_HUMAN neXtProt NX_Q03721 http://www.nextprot.org/db/entry/NX_Q03721 octanol swissprot:KCNC4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCNC4_HUMAN pepcoil swissprot:KCNC4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCNC4_HUMAN pepdigest swissprot:KCNC4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCNC4_HUMAN pepinfo swissprot:KCNC4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCNC4_HUMAN pepnet swissprot:KCNC4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCNC4_HUMAN pepstats swissprot:KCNC4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCNC4_HUMAN pepwheel swissprot:KCNC4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCNC4_HUMAN pepwindow swissprot:KCNC4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCNC4_HUMAN sigcleave swissprot:KCNC4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCNC4_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS SC5A9_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q2M3M2-1; Sequence=Displayed; Name=2; IsoId=Q2M3M2-2; Sequence=VSP_044577; Note=No experimental confirmation available.; Name=3; IsoId=Q2M3M2-3; Sequence=VSP_057168; Note=No experimental confirmation available.; # AltName SC5A9_HUMAN Solute carrier family 5 member 9 # CCDS CCDS30709 -. [Q2M3M2-1] # CCDS CCDS44136 -. [Q2M3M2-2] # Ensembl ENST00000236495 ENSP00000236495; ENSG00000117834. [Q2M3M2-2] # Ensembl ENST00000438567 ENSP00000401730; ENSG00000117834. [Q2M3M2-1] # Ensembl ENST00000533824 ENSP00000431900; ENSG00000117834. [Q2M3M2-3] # ExpressionAtlas Q2M3M2 baseline and differential # FUNCTION SC5A9_HUMAN Involved in sodium-dependent transport of D-mannose, D- glucose and D-fructose. {ECO 0000269|PubMed 15607332}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0015293 symporter activity; IBA:GO_Central. # GO_function SC5A9_HUMAN GO 0005362 low-affinity glucose sodium symporter activity; TAS Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0022857 transmembrane transporter activity # Genevisible Q2M3M2 HS # HGNC HGNC:22146 SLC5A9 # InterPro IPR001734 Na/solute_symporter # InterPro IPR018212 Na/solute_symporter_CS # KEGG_Brite ko02001 Solute carrier family # Organism SC5A9_HUMAN Homo sapiens (Human) # PANTHER PTHR11819 PTHR11819; 3 # PROSITE PS00456 NA_SOLUT_SYMP_1 # PROSITE PS50283 NA_SOLUT_SYMP_3 # Pfam PF00474 SSF # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-189200 Hexose transport # Reactome R-HSA-428808 Na+-dependent glucose transporters # Reactome R-HSA-429593 Inositol transporters # RecName SC5A9_HUMAN Sodium/glucose cotransporter 4 # RefSeq NP_001011547 NM_001011547.2. [Q2M3M2-1] # RefSeq NP_001128653 NM_001135181.1. [Q2M3M2-2] # SEQUENCE CAUTION Sequence=CAI18915.1; Type=Erroneous gene model prediction; Evidence={ECO 0000305}; # SIMILARITY Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family. {ECO 0000305}. # SUBCELLULAR LOCATION SC5A9_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # TCDB 2.A.21.3.17:the solute sodium symporter (sss) family # TIGRFAMs TIGR00813 sss # TISSUE SPECIFICITY Expressed in the small intestine, kidney and liver. {ECO:0000269|PubMed 15607332}. # UCSC uc001crn human. [Q2M3M2-1] # eggNOG COG4146 LUCA # eggNOG ENOG410IP49 Eukaryota BLAST swissprot:SC5A9_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SC5A9_HUMAN COXPRESdb 200010 http://coxpresdb.jp/data/gene/200010.shtml CleanEx HS_SLC5A9 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC5A9 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1016/j.lfs.2004.10.016 http://dx.doi.org/10.1016/j.lfs.2004.10.016 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AK131200 http://www.ebi.ac.uk/ena/data/view/AK131200 EMBL AL109659 http://www.ebi.ac.uk/ena/data/view/AL109659 EMBL BC104857 http://www.ebi.ac.uk/ena/data/view/BC104857 EMBL BC104863 http://www.ebi.ac.uk/ena/data/view/BC104863 EMBL BC143570 http://www.ebi.ac.uk/ena/data/view/BC143570 EMBL BC143572 http://www.ebi.ac.uk/ena/data/view/BC143572 EMBL CH471059 http://www.ebi.ac.uk/ena/data/view/CH471059 Ensembl ENST00000236495 http://www.ensembl.org/id/ENST00000236495 Ensembl ENST00000438567 http://www.ensembl.org/id/ENST00000438567 Ensembl ENST00000533824 http://www.ensembl.org/id/ENST00000533824 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0005362 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005362 GO_function GO:0015293 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015293 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GeneCards SLC5A9 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC5A9 GeneID 200010 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=200010 GeneTree ENSGT00760000118955 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118955 H-InvDB HIX0023625 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0023625 H-InvDB HIX0029229 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0029229 HGNC HGNC:22146 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:22146 HOGENOM HOG000025422 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000025422&db=HOGENOM6 HOVERGEN HBG052859 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052859&db=HOVERGEN HPA CAB013090 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB013090 InParanoid Q2M3M2 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q2M3M2 InterPro IPR001734 http://www.ebi.ac.uk/interpro/entry/IPR001734 InterPro IPR018212 http://www.ebi.ac.uk/interpro/entry/IPR018212 Jabion 200010 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=200010 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:200010 http://www.genome.jp/dbget-bin/www_bget?hsa:200010 KEGG_Orthology KO:K14389 http://www.genome.jp/dbget-bin/www_bget?KO:K14389 OMA QRIQIYM http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=QRIQIYM OrthoDB EOG091G077U http://cegg.unige.ch/orthodb/results?searchtext=EOG091G077U PANTHER PTHR11819 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11819 PROSITE PS00456 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00456 PROSITE PS50283 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50283 PSORT swissprot:SC5A9_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SC5A9_HUMAN PSORT-B swissprot:SC5A9_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SC5A9_HUMAN PSORT2 swissprot:SC5A9_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SC5A9_HUMAN Pfam PF00474 http://pfam.xfam.org/family/PF00474 PharmGKB PA134949681 http://www.pharmgkb.org/do/serve?objId=PA134949681&objCls=Gene Phobius swissprot:SC5A9_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SC5A9_HUMAN PhylomeDB Q2M3M2 http://phylomedb.org/?seqid=Q2M3M2 ProteinModelPortal Q2M3M2 http://www.proteinmodelportal.org/query/uniprot/Q2M3M2 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15607332 http://www.ncbi.nlm.nih.gov/pubmed/15607332 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 Reactome R-HSA-189200 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-189200 Reactome R-HSA-428808 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-428808 Reactome R-HSA-429593 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-429593 RefSeq NP_001011547 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001011547 RefSeq NP_001128653 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001128653 STRING 9606.ENSP00000236495 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000236495&targetmode=cogs TCDB 2.A.21.3.17 http://www.tcdb.org/search/result.php?tc=2.A.21.3.17 TIGRFAMs TIGR00813 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00813 UCSC uc001crn http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001crn&org=rat UniGene Hs.37890 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.37890 UniProtKB SC5A9_HUMAN http://www.uniprot.org/uniprot/SC5A9_HUMAN UniProtKB-AC Q2M3M2 http://www.uniprot.org/uniprot/Q2M3M2 charge swissprot:SC5A9_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SC5A9_HUMAN eggNOG COG4146 http://eggnogapi.embl.de/nog_data/html/tree/COG4146 eggNOG ENOG410IP49 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IP49 epestfind swissprot:SC5A9_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SC5A9_HUMAN garnier swissprot:SC5A9_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SC5A9_HUMAN helixturnhelix swissprot:SC5A9_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SC5A9_HUMAN hmoment swissprot:SC5A9_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SC5A9_HUMAN iep swissprot:SC5A9_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SC5A9_HUMAN inforesidue swissprot:SC5A9_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SC5A9_HUMAN neXtProt NX_Q2M3M2 http://www.nextprot.org/db/entry/NX_Q2M3M2 octanol swissprot:SC5A9_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SC5A9_HUMAN pepcoil swissprot:SC5A9_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SC5A9_HUMAN pepdigest swissprot:SC5A9_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SC5A9_HUMAN pepinfo swissprot:SC5A9_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SC5A9_HUMAN pepnet swissprot:SC5A9_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SC5A9_HUMAN pepstats swissprot:SC5A9_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SC5A9_HUMAN pepwheel swissprot:SC5A9_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SC5A9_HUMAN pepwindow swissprot:SC5A9_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SC5A9_HUMAN sigcleave swissprot:SC5A9_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SC5A9_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S39A4_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q6P5W5-1; Sequence=Displayed; Name=2; IsoId=Q6P5W5-2; Sequence=VSP_015911, VSP_015912; # AltName S39A4_HUMAN Solute carrier family 39 member 4 # AltName S39A4_HUMAN Zrt- and Irt-like protein 4 # BioGrid 120769 101 # CCDS CCDS43782 -. [Q6P5W5-2] # CCDS CCDS6424 -. [Q6P5W5-1] # DISEASE S39A4_HUMAN Acrodermatitis enteropathica, zinc-deficiency type (AEZ) [MIM 201100] A rare autosomal recessive disease caused by the inability to absorb sufficient zinc. The clinical features are growth retardation, immune-system dysfunction, alopecia, severe dermatitis, diarrhea and occasionally mental disorders. {ECO 0000269|PubMed 12032886, ECO 0000269|PubMed 12068297, ECO 0000269|PubMed 12787121, ECO 0000269|PubMed 14702039}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000301305 ENSP00000301305; ENSG00000147804 # ExpressionAtlas Q6P5W5 baseline and differential # FUNCTION S39A4_HUMAN Plays an important role in cellular zinc homeostasis as a zinc transporter. Regulated in response to zinc availability (By similarity). {ECO 0000250}. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0016023 cytoplasmic, membrane-bounded vesicle; IDA:UniProtKB. # GO_component GO:0016324 apical plasma membrane; IEA:Ensembl. # GO_component GO:0055038 recycling endosome membrane; IEA:UniProtKB-SubCell. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0005385 zinc ion transmembrane transporter activity; IDA:CACAO. # GO_process GO:0006882 cellular zinc ion homeostasis; IBA:GO_Central. # GO_process GO:0034224 cellular response to zinc ion starvation; IEA:Ensembl. # GO_process GO:0071578 zinc II ion transmembrane import; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006950 response to stress # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Genevisible Q6P5W5 HS # HGNC HGNC:17129 SLC39A4 # InterPro IPR003689 ZIP # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02001 Solute carrier family # KEGG_Disease H00212 [Inherited metabolic disease; Skin and connective tissue disease; Gastrointestinal disease] Acrodermatitis enteropathica (AEZ) # KEGG_Pathway ko04978 Mineral absorption # MIM 201100 phenotype # MIM 607059 gene # Organism S39A4_HUMAN Homo sapiens (Human) # Orphanet 37 Acrodermatitis enteropathica # Pfam PF02535 Zip # Proteomes UP000005640 Chromosome 8 # Reactome R-HSA-442380 Zinc influx into cells by the SLC39 gene family # RecName S39A4_HUMAN Zinc transporter ZIP4 # RefSeq NP_060237 NM_017767.2. [Q6P5W5-2] # RefSeq NP_570901 NM_130849.3. [Q6P5W5-1] # SEQUENCE CAUTION Sequence=BAA91091.1; Type=Frameshift; Positions=573, 598, 618; Evidence={ECO 0000305}; # SIMILARITY Belongs to the ZIP transporter (TC 2.A.5) family. {ECO 0000305}. # SUBCELLULAR LOCATION S39A4_HUMAN Cell membrane {ECO 0000269|PubMed 14612438}; Multi-pass membrane protein {ECO 0000269|PubMed 14612438}. Recycling endosome membrane {ECO 0000269|PubMed 14612438}; Multi- pass membrane protein {ECO 0000269|PubMed 14612438}. Note=Colocalized with TFRC in the recycling endosomes. Cycles between endosomal compartments and the plasma membrane in response to zinc availability. # TCDB 2.A.5.4 the zinc (zn(2+))-iron (fe(2+)) permease (zip) family # TISSUE SPECIFICITY S39A4_HUMAN Highly expressed in kidney, small intestine, stomach, colon, jejunum and duodenum. {ECO 0000269|PubMed 12032886, ECO 0000269|PubMed 12068297}. # UCSC uc003zcq human. [Q6P5W5-1] # eggNOG COG0428 LUCA # eggNOG KOG2693 Eukaryota BLAST swissprot:S39A4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S39A4_HUMAN COXPRESdb 55630 http://coxpresdb.jp/data/gene/55630.shtml CleanEx HS_SLC39A4 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC39A4 DOI 10.1038/nature04406 http://dx.doi.org/10.1038/nature04406 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1038/ng913 http://dx.doi.org/10.1038/ng913 DOI 10.1046/j.1523-1747.2003.12243.x http://dx.doi.org/10.1046/j.1523-1747.2003.12243.x DOI 10.1074/jbc.M310799200 http://dx.doi.org/10.1074/jbc.M310799200 DOI 10.1086/341125 http://dx.doi.org/10.1086/341125 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AF205589 http://www.ebi.ac.uk/ena/data/view/AF205589 EMBL AK000334 http://www.ebi.ac.uk/ena/data/view/AK000334 EMBL AK025537 http://www.ebi.ac.uk/ena/data/view/AK025537 EMBL BC001688 http://www.ebi.ac.uk/ena/data/view/BC001688 EMBL BC062625 http://www.ebi.ac.uk/ena/data/view/BC062625 Ensembl ENST00000301305 http://www.ensembl.org/id/ENST00000301305 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016023 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016023 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:0055038 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055038 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0005385 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005385 GO_process GO:0006882 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006882 GO_process GO:0034224 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034224 GO_process GO:0071578 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071578 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC39A4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC39A4 GeneID 55630 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=55630 H-InvDB HIX0007856 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0007856 HGNC HGNC:17129 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:17129 HOGENOM HOG000293181 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000293181&db=HOGENOM6 HOVERGEN HBG062532 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG062532&db=HOVERGEN InParanoid Q6P5W5 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q6P5W5 InterPro IPR003689 http://www.ebi.ac.uk/interpro/entry/IPR003689 Jabion 55630 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=55630 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Disease H00212 http://www.genome.jp/dbget-bin/www_bget?H00212 KEGG_Gene hsa:55630 http://www.genome.jp/dbget-bin/www_bget?hsa:55630 KEGG_Orthology KO:K14710 http://www.genome.jp/dbget-bin/www_bget?KO:K14710 KEGG_Pathway ko04978 http://www.genome.jp/kegg-bin/show_pathway?ko04978 MIM 201100 http://www.ncbi.nlm.nih.gov/omim/201100 MIM 607059 http://www.ncbi.nlm.nih.gov/omim/607059 Orphanet 37 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=37 OrthoDB EOG091G04FT http://cegg.unige.ch/orthodb/results?searchtext=EOG091G04FT PSORT swissprot:S39A4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S39A4_HUMAN PSORT-B swissprot:S39A4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S39A4_HUMAN PSORT2 swissprot:S39A4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S39A4_HUMAN Pfam PF02535 http://pfam.xfam.org/family/PF02535 PharmGKB PA38204 http://www.pharmgkb.org/do/serve?objId=PA38204&objCls=Gene Phobius swissprot:S39A4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S39A4_HUMAN PhylomeDB Q6P5W5 http://phylomedb.org/?seqid=Q6P5W5 ProteinModelPortal Q6P5W5 http://www.proteinmodelportal.org/query/uniprot/Q6P5W5 PubMed 12032886 http://www.ncbi.nlm.nih.gov/pubmed/12032886 PubMed 12068297 http://www.ncbi.nlm.nih.gov/pubmed/12068297 PubMed 12787121 http://www.ncbi.nlm.nih.gov/pubmed/12787121 PubMed 14612438 http://www.ncbi.nlm.nih.gov/pubmed/14612438 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16421571 http://www.ncbi.nlm.nih.gov/pubmed/16421571 Reactome R-HSA-442380 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-442380 RefSeq NP_060237 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_060237 RefSeq NP_570901 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_570901 SMR Q6P5W5 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q6P5W5 STRING 9606.ENSP00000301305 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000301305&targetmode=cogs TCDB 2.A.5.4 http://www.tcdb.org/search/result.php?tc=2.A.5.4 UCSC uc003zcq http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003zcq&org=rat UniGene Hs.521934 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.521934 UniProtKB S39A4_HUMAN http://www.uniprot.org/uniprot/S39A4_HUMAN UniProtKB-AC Q6P5W5 http://www.uniprot.org/uniprot/Q6P5W5 charge swissprot:S39A4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S39A4_HUMAN eggNOG COG0428 http://eggnogapi.embl.de/nog_data/html/tree/COG0428 eggNOG KOG2693 http://eggnogapi.embl.de/nog_data/html/tree/KOG2693 epestfind swissprot:S39A4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S39A4_HUMAN garnier swissprot:S39A4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S39A4_HUMAN helixturnhelix swissprot:S39A4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S39A4_HUMAN hmoment swissprot:S39A4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S39A4_HUMAN iep swissprot:S39A4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S39A4_HUMAN inforesidue swissprot:S39A4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S39A4_HUMAN neXtProt NX_Q6P5W5 http://www.nextprot.org/db/entry/NX_Q6P5W5 octanol swissprot:S39A4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S39A4_HUMAN pepcoil swissprot:S39A4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S39A4_HUMAN pepdigest swissprot:S39A4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S39A4_HUMAN pepinfo swissprot:S39A4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S39A4_HUMAN pepnet swissprot:S39A4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S39A4_HUMAN pepstats swissprot:S39A4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S39A4_HUMAN pepwheel swissprot:S39A4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S39A4_HUMAN pepwindow swissprot:S39A4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S39A4_HUMAN sigcleave swissprot:S39A4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S39A4_HUMAN ## Database ID URL or Descriptions # AltName CXB2_HUMAN Connexin-26 # BioGrid 108972 19 # CAUTION CXB2_HUMAN The Thr-34 allele was originally thought to be a cause of autosomal dominant and recessive deafness (DFNA3 and DFNB1) (PubMed 9139825). However, Thr-34 effect on hearing is controversial. Some studies supports its pathogenic role (PubMed 17935238 and PubMed 16849369). Others provide evidence of the non-pathogenic nature of this variant (PubMed 9422505 and PubMed 14694360). {ECO 0000305|PubMed 9139825}. # DISEASE CXB2_HUMAN Bart-Pumphrey syndrome (BPS) [MIM 149200] An autosomal dominant disorder characterized by sensorineural hearing loss, palmoplantar keratoderma, knuckle pads, and leukonychia, It shows considerable phenotypic variability. {ECO 0000269|PubMed 15482471, ECO 0000269|PubMed 15952212}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE CXB2_HUMAN Deafness, autosomal dominant, 3A (DFNA3A) [MIM 601544] A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO 0000269|PubMed 10807696, ECO 0000269|PubMed 11313763, ECO 0000269|PubMed 11439000, ECO 0000269|PubMed 12786758, ECO 0000269|PubMed 19384972, ECO 0000269|PubMed 9620796}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE CXB2_HUMAN Deafness, autosomal recessive, 1A (DFNB1A) [MIM 220290] A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO 0000269|PubMed 10830906, ECO 0000269|PubMed 11313763, ECO 0000269|PubMed 11439000, ECO 0000269|PubMed 12121355, ECO 0000269|PubMed 12239718, ECO 0000269|PubMed 12786758, ECO 0000269|PubMed 14722929, ECO 0000269|PubMed 15666300, ECO 0000269|PubMed 15994881, ECO 0000269|PubMed 17660464, ECO 0000269|PubMed 17666888, ECO 0000269|PubMed 19384972, ECO 0000269|PubMed 23680645, ECO 0000269|PubMed 9328482, ECO 0000269|PubMed 9336442, ECO 0000269|PubMed 9471561, ECO 0000269|PubMed 9529365}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE CXB2_HUMAN Ichthyosis hystrix-like with deafness syndrome (HID syndrome) [MIM 602540] An autosomal dominant keratinizing disorder characterized by sensorineural deafness and spiky hyperkeratosis affecting the entire skin. HID syndrome is considered to differ from the similar KID syndrome in the extent and time of occurrence of skin symptoms and the severity of the associated keratitis. {ECO 0000269|PubMed 12072059}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE CXB2_HUMAN Keratitis-ichthyosis-deafness syndrome (KID syndrome) [MIM 148210] An autosomal dominant form of ectodermal dysplasia. Ectodermal dysplasia defines a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. Keratitis-ichthyosis-deafness syndrome is characterized by the association of hyperkeratotic skin lesions with vascularizing keratitis and profound sensorineural hearing loss. Clinical features include deafness, ichthyosis, photophobia, absent or decreased eyebrows, sparse or absent scalp hair, decreased sweating and dysplastic finger and toenails. {ECO 0000269|PubMed 11912510, ECO 0000269|PubMed 12548749, ECO 0000269|PubMed 12752120}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE CXB2_HUMAN Keratoderma, palmoplantar, with deafness (PPKDFN) [MIM 148350] An autosomal dominant disorder characterized by the association of palmoplantar hyperkeratosis with progressive, bilateral, high-frequency, sensorineural deafness. {ECO 0000269|PubMed 10633135, ECO 0000269|PubMed 10757647, ECO 0000269|PubMed 12372058, ECO 0000269|PubMed 15996214, ECO 0000269|PubMed 17993581, ECO 0000269|PubMed 9856479}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE CXB2_HUMAN Vohwinkel syndrome (VOWNKL) [MIM 124500] An autosomal dominant disease characterized by hyperkeratosis, constriction on fingers and toes and congenital deafness. {ECO 0000269|PubMed 10369869, ECO 0000269|PubMed 15954104, ECO 0000269|PubMed 18688874}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000382844 ENSP00000372295; ENSG00000165474 # Ensembl ENST00000382848 ENSP00000372299; ENSG00000165474 # ExpressionAtlas P29033 baseline and differential # FUNCTION CXB2_HUMAN One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell. # GO_component GO:0005793 endoplasmic reticulum-Golgi intermediate compartment; TAS:Reactome. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005922 connexin complex; TAS:ProtInc. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0016328 lateral plasma membrane; IEA:Ensembl. # GO_function GO:0005243 gap junction channel activity; IEA:Ensembl. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0007267 cell-cell signaling; TAS:ProtInc. # GO_process GO:0007605 sensory perception of sound; TAS:ProtInc. # GO_process GO:0016264 gap junction assembly; TAS:Reactome. # GO_process GO:0030539 male genitalia development; IEA:Ensembl. # GO_process GO:0032355 response to estradiol; IEA:Ensembl. # GO_process GO:0032570 response to progesterone; IEA:Ensembl. # GO_process GO:0034599 cellular response to oxidative stress; IEA:Ensembl. # GO_process GO:0044752 response to human chorionic gonadotropin; IEA:Ensembl. # GO_process GO:0046697 decidualization; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # GOslim_process GO:0022607 cellular component assembly # GOslim_process GO:0034330 cell junction organization # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0050877 neurological system process # Genevisible P29033 HS # HGNC HGNC:4284 GJB2 # IntAct P29033 14 # InterPro IPR000500 Connexin # InterPro IPR002268 Connexin26 # InterPro IPR013092 Connexin_N # InterPro IPR017990 Connexin_CS # InterPro IPR019570 Connexin_CCC # KEGG_Disease H00604 [Nervous system disease; Nervous system disease] Deafness, autosomal dominant # KEGG_Disease H00605 [Nervous system disease; Nervous system disease] Deafness, autosomal recessive # KEGG_Disease H00706 [Nervous system disease; Skin and connective tissue disease] Bart-Pumphrey syndrome # KEGG_Disease H00712 [Skin and connective tissue disease; Nervous system disease] KID/HID syndrome # KEGG_Disease H00714 [Skin and connective tissue disease] Vohwinkel syndrome with ichthyosis # KEGG_Disease H00716 [Skin and connective tissue disease; Nervous system disease] Palmoplantar keratoderma with deafness # KEGG_Disease H01673 [Skin and connective tissue disease] Palmoplantar keratoderma # MIM 121011 gene # MIM 124500 phenotype # MIM 148210 phenotype # MIM 148350 phenotype # MIM 149200 phenotype # MIM 220290 phenotype # MIM 601544 phenotype # MIM 602540 phenotype # Organism CXB2_HUMAN Homo sapiens (Human) # Orphanet 166286 Porokeratotic eccrine ostial and dermal duct nevus # Orphanet 2202 Palmoplantar keratoderma-deafness syndrome # Orphanet 2698 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome # Orphanet 330029 Hypotrichosis-deafness syndrome # Orphanet 477 KID syndrome # Orphanet 494 Keratoderma hereditarium mutilans # Orphanet 90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA # Orphanet 90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB # PANTHER PTHR11984 PTHR11984 # PDB 1XIR Model; -; A=1-226 # PDB 2ZW3 X-ray; 3.50 A; A/B/C/D/E/F=1-226 # PDB 3IZ1 EM; -; A/B/C=1-226 # PDB 3IZ2 EM; -; A/B/C=8-226 # PDB 5ER7 X-ray; 3.29 A; A/B=1-226 # PDB 5ERA X-ray; 3.80 A; A/B=1-226 # PDB 5KJ3 NMR; -; A=1-22 # PDB 5KJG NMR; -; A=1-22 # PIR A43424 A43424 # PRINTS PR00206 CONNEXIN # PRINTS PR01139 CONNEXINB2 # PROSITE PS00407 CONNEXINS_1 # PROSITE PS00408 CONNEXINS_2 # Pfam PF00029 Connexin # Proteomes UP000005640 Chromosome 13 # Reactome R-HSA-190704 Oligomerization of connexins into connexons # Reactome R-HSA-190827 Transport of connexins along the secretory pathway # Reactome R-HSA-190861 Gap junction assembly # Reactome R-HSA-190872 Transport of connexons to the plasma membrane # RecName CXB2_HUMAN Gap junction beta-2 protein # RefSeq NP_003995 NM_004004.5 # RefSeq XP_011533351 XM_011535049.2 # SIMILARITY Belongs to the connexin family. Beta-type (group I) subfamily. {ECO 0000305}. # SMART SM00037 CNX # SMART SM01089 Connexin_CCC # SUBCELLULAR LOCATION CXB2_HUMAN Cell membrane; Multi-pass membrane protein. Cell junction, gap junction. # SUBUNIT A connexon is composed of a hexamer of connexins. Interacts with CNST (By similarity). {ECO 0000250}. # TCDB 1.A.24.1 the gap junction-forming connexin (connexin) family # UCSC uc001umy human # WEB RESOURCE CXB2_HUMAN Name=Connexin-deafness homepage; URL="http //davinci.crg.es/deafness/"; # WEB RESOURCE CXB2_HUMAN Name=Hereditary hearing loss homepage; Note=Gene page; URL="http //hereditaryhearingloss.org/main.aspx?c=.HHH&n=86162"; # eggNOG ENOG410IFM8 Eukaryota # eggNOG ENOG410Y7VN LUCA BLAST swissprot:CXB2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CXB2_HUMAN BioCyc ZFISH:ENSG00000165474-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000165474-MONOMER COXPRESdb 2706 http://coxpresdb.jp/data/gene/2706.shtml DIP DIP-59742N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-59742N DOI 10.1002/(SICI)1096-8628(20000117)90:2<141::AID-AJMG10>3.0.CO http://dx.doi.org/10.1002/(SICI)1096-8628(20000117)90:2<141::AID-AJMG10>3.0.CO DOI 10.1002/(SICI)1098-1004(1998)11:5<387::AID-HUMU6>3.0.CO http://dx.doi.org/10.1002/(SICI)1098-1004(1998)11:5<387::AID-HUMU6>3.0.CO DOI 10.1002/ajmg.10621 http://dx.doi.org/10.1002/ajmg.10621 DOI 10.1002/ajmg.a.10851 http://dx.doi.org/10.1002/ajmg.a.10851 DOI 10.1002/ajmg.a.30576 http://dx.doi.org/10.1002/ajmg.a.30576 DOI 10.1002/ajmg.a.30822 http://dx.doi.org/10.1002/ajmg.a.30822 DOI 10.1002/ajmg.a.31982 http://dx.doi.org/10.1002/ajmg.a.31982 DOI 10.1002/ajmg.a.32462 http://dx.doi.org/10.1002/ajmg.a.32462 DOI 10.1002/ajmg.a.32765 http://dx.doi.org/10.1002/ajmg.a.32765 DOI 10.1002/humu.1156 http://dx.doi.org/10.1002/humu.1156 DOI 10.1002/humu.21036 http://dx.doi.org/10.1002/humu.21036 DOI 10.1002/humu.9216 http://dx.doi.org/10.1002/humu.9216 DOI 10.1002/humu.9350 http://dx.doi.org/10.1002/humu.9350 DOI 10.1007/s00439-002-0889-x http://dx.doi.org/10.1007/s00439-002-0889-x DOI 10.1007/s004390000273 http://dx.doi.org/10.1007/s004390000273 DOI 10.1007/s004390050839 http://dx.doi.org/10.1007/s004390050839 DOI 10.1016/j.gene.2013.04.078 http://dx.doi.org/10.1016/j.gene.2013.04.078 DOI 10.1034/j.1399-0004.2002.610611.x http://dx.doi.org/10.1034/j.1399-0004.2002.610611.x DOI 10.1034/j.1399-0004.2002.620409.x http://dx.doi.org/10.1034/j.1399-0004.2002.620409.x DOI 10.1034/j.1399-0004.2003.00079.x http://dx.doi.org/10.1034/j.1399-0004.2003.00079.x DOI 10.1038/30639 http://dx.doi.org/10.1038/30639 DOI 10.1038/34079 http://dx.doi.org/10.1038/34079 DOI 10.1038/387080a0 http://dx.doi.org/10.1038/387080a0 DOI 10.1038/nature02379 http://dx.doi.org/10.1038/nature02379 DOI 10.1038/nature07869 http://dx.doi.org/10.1038/nature07869 DOI 10.1038/ncb1205 http://dx.doi.org/10.1038/ncb1205 DOI 10.1038/sj.ejhg.5200407 http://dx.doi.org/10.1038/sj.ejhg.5200407 DOI 10.1038/sj.ejhg.5200607 http://dx.doi.org/10.1038/sj.ejhg.5200607 DOI 10.1038/sj.ejhg.5201147 http://dx.doi.org/10.1038/sj.ejhg.5201147 DOI 10.1046/j.1365-2133.2002.04893.x http://dx.doi.org/10.1046/j.1365-2133.2002.04893.x DOI 10.1046/j.1365-2133.2003.05245.x http://dx.doi.org/10.1046/j.1365-2133.2003.05245.x DOI 10.1056/NEJM199802193380813 http://dx.doi.org/10.1056/NEJM199802193380813 DOI 10.1083/jcb.118.5.1213 http://dx.doi.org/10.1083/jcb.118.5.1213 DOI 10.1086/301807 http://dx.doi.org/10.1086/301807 DOI 10.1086/339986 http://dx.doi.org/10.1086/339986 DOI 10.1093/hmg/6.12.2163 http://dx.doi.org/10.1093/hmg/6.12.2163 DOI 10.1093/hmg/6.12.2173 http://dx.doi.org/10.1093/hmg/6.12.2173 DOI 10.1093/hmg/8.7.1237 http://dx.doi.org/10.1093/hmg/8.7.1237 DOI 10.1093/hmg/ddg076 http://dx.doi.org/10.1093/hmg/ddg076 DOI 10.1093/hmg/ddl184 http://dx.doi.org/10.1093/hmg/ddl184 DOI 10.1097/GIM.0b013e3180a03276 http://dx.doi.org/10.1097/GIM.0b013e3180a03276 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.0022-202X.2004.23470.x http://dx.doi.org/10.1111/j.0022-202X.2004.23470.x DOI 10.1111/j.1365-2133.2009.09137.x http://dx.doi.org/10.1111/j.1365-2133.2009.09137.x DOI 10.1111/j.1399-0004.2005.00468.x http://dx.doi.org/10.1111/j.1399-0004.2005.00468.x DOI 10.1136/jmg.2004.028324 http://dx.doi.org/10.1136/jmg.2004.028324 DOI 10.1136/jmg.2007.050682 http://dx.doi.org/10.1136/jmg.2007.050682 DOI 10.1136/jmg.2007.052332 http://dx.doi.org/10.1136/jmg.2007.052332 DOI 10.1136/jmg.37.1.50 http://dx.doi.org/10.1136/jmg.37.1.50 DOI 10.1136/jmg.37.5.368 http://dx.doi.org/10.1136/jmg.37.5.368 DOI 10.1136/jmg.40.5.e68 http://dx.doi.org/10.1136/jmg.40.5.e68 EMBL AF281280 http://www.ebi.ac.uk/ena/data/view/AF281280 EMBL AF479776 http://www.ebi.ac.uk/ena/data/view/AF479776 EMBL AL138688 http://www.ebi.ac.uk/ena/data/view/AL138688 EMBL AY255853 http://www.ebi.ac.uk/ena/data/view/AY255853 EMBL AY275646 http://www.ebi.ac.uk/ena/data/view/AY275646 EMBL AY275647 http://www.ebi.ac.uk/ena/data/view/AY275647 EMBL AY275648 http://www.ebi.ac.uk/ena/data/view/AY275648 EMBL AY275649 http://www.ebi.ac.uk/ena/data/view/AY275649 EMBL AY275650 http://www.ebi.ac.uk/ena/data/view/AY275650 EMBL AY275651 http://www.ebi.ac.uk/ena/data/view/AY275651 EMBL AY275652 http://www.ebi.ac.uk/ena/data/view/AY275652 EMBL AY275653 http://www.ebi.ac.uk/ena/data/view/AY275653 EMBL AY275654 http://www.ebi.ac.uk/ena/data/view/AY275654 EMBL AY280971 http://www.ebi.ac.uk/ena/data/view/AY280971 EMBL AY953438 http://www.ebi.ac.uk/ena/data/view/AY953438 EMBL AY953441 http://www.ebi.ac.uk/ena/data/view/AY953441 EMBL BC017048 http://www.ebi.ac.uk/ena/data/view/BC017048 EMBL BC071703 http://www.ebi.ac.uk/ena/data/view/BC071703 EMBL BT006732 http://www.ebi.ac.uk/ena/data/view/BT006732 EMBL M86849 http://www.ebi.ac.uk/ena/data/view/M86849 Ensembl ENST00000382844 http://www.ensembl.org/id/ENST00000382844 Ensembl ENST00000382848 http://www.ensembl.org/id/ENST00000382848 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005793 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005793 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005922 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005922 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0016328 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016328 GO_function GO:0005243 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005243 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GO_process GO:0007605 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007605 GO_process GO:0016264 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016264 GO_process GO:0030539 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030539 GO_process GO:0032355 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032355 GO_process GO:0032570 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032570 GO_process GO:0034599 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034599 GO_process GO:0044752 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044752 GO_process GO:0046697 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046697 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0022607 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022607 GOslim_process GO:0034330 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034330 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GeneCards GJB2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=GJB2 GeneID 2706 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=2706 GeneTree ENSGT00860000133694 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00860000133694 HGNC HGNC:4284 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:4284 HOVERGEN HBG009576 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG009576&db=HOVERGEN HPA CAB013093 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB013093 InParanoid P29033 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P29033 IntAct P29033 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P29033* InterPro IPR000500 http://www.ebi.ac.uk/interpro/entry/IPR000500 InterPro IPR002268 http://www.ebi.ac.uk/interpro/entry/IPR002268 InterPro IPR013092 http://www.ebi.ac.uk/interpro/entry/IPR013092 InterPro IPR017990 http://www.ebi.ac.uk/interpro/entry/IPR017990 InterPro IPR019570 http://www.ebi.ac.uk/interpro/entry/IPR019570 Jabion 2706 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=2706 KEGG_Disease H00604 http://www.genome.jp/dbget-bin/www_bget?H00604 KEGG_Disease H00605 http://www.genome.jp/dbget-bin/www_bget?H00605 KEGG_Disease H00706 http://www.genome.jp/dbget-bin/www_bget?H00706 KEGG_Disease H00712 http://www.genome.jp/dbget-bin/www_bget?H00712 KEGG_Disease H00714 http://www.genome.jp/dbget-bin/www_bget?H00714 KEGG_Disease H00716 http://www.genome.jp/dbget-bin/www_bget?H00716 KEGG_Disease H01673 http://www.genome.jp/dbget-bin/www_bget?H01673 KEGG_Gene hsa:2706 http://www.genome.jp/dbget-bin/www_bget?hsa:2706 KEGG_Orthology KO:K07621 http://www.genome.jp/dbget-bin/www_bget?KO:K07621 MIM 121011 http://www.ncbi.nlm.nih.gov/omim/121011 MIM 124500 http://www.ncbi.nlm.nih.gov/omim/124500 MIM 148210 http://www.ncbi.nlm.nih.gov/omim/148210 MIM 148350 http://www.ncbi.nlm.nih.gov/omim/148350 MIM 149200 http://www.ncbi.nlm.nih.gov/omim/149200 MIM 220290 http://www.ncbi.nlm.nih.gov/omim/220290 MIM 601544 http://www.ncbi.nlm.nih.gov/omim/601544 MIM 602540 http://www.ncbi.nlm.nih.gov/omim/602540 OMA VMYDGFA http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=VMYDGFA Orphanet 166286 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=166286 Orphanet 2202 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=2202 Orphanet 2698 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=2698 Orphanet 330029 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=330029 Orphanet 477 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=477 Orphanet 494 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=494 Orphanet 90635 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=90635 Orphanet 90636 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=90636 OrthoDB EOG091G0FKH http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0FKH PANTHER PTHR11984 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11984 PDB 1XIR http://www.ebi.ac.uk/pdbe-srv/view/entry/1XIR PDB 2ZW3 http://www.ebi.ac.uk/pdbe-srv/view/entry/2ZW3 PDB 3IZ1 http://www.ebi.ac.uk/pdbe-srv/view/entry/3IZ1 PDB 3IZ2 http://www.ebi.ac.uk/pdbe-srv/view/entry/3IZ2 PDB 5ER7 http://www.ebi.ac.uk/pdbe-srv/view/entry/5ER7 PDB 5ERA http://www.ebi.ac.uk/pdbe-srv/view/entry/5ERA PDB 5KJ3 http://www.ebi.ac.uk/pdbe-srv/view/entry/5KJ3 PDB 5KJG http://www.ebi.ac.uk/pdbe-srv/view/entry/5KJG PDBsum 1XIR http://www.ebi.ac.uk/pdbsum/1XIR PDBsum 2ZW3 http://www.ebi.ac.uk/pdbsum/2ZW3 PDBsum 3IZ1 http://www.ebi.ac.uk/pdbsum/3IZ1 PDBsum 3IZ2 http://www.ebi.ac.uk/pdbsum/3IZ2 PDBsum 5ER7 http://www.ebi.ac.uk/pdbsum/5ER7 PDBsum 5ERA http://www.ebi.ac.uk/pdbsum/5ERA PDBsum 5KJ3 http://www.ebi.ac.uk/pdbsum/5KJ3 PDBsum 5KJG http://www.ebi.ac.uk/pdbsum/5KJG PRINTS PR00206 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00206 PRINTS PR01139 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01139 PROSITE PS00407 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00407 PROSITE PS00408 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00408 PSORT swissprot:CXB2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CXB2_HUMAN PSORT-B swissprot:CXB2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CXB2_HUMAN PSORT2 swissprot:CXB2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CXB2_HUMAN Pfam PF00029 http://pfam.xfam.org/family/PF00029 PharmGKB PA28695 http://www.pharmgkb.org/do/serve?objId=PA28695&objCls=Gene Phobius swissprot:CXB2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CXB2_HUMAN PhylomeDB P29033 http://phylomedb.org/?seqid=P29033 ProteinModelPortal P29033 http://www.proteinmodelportal.org/query/uniprot/P29033 PubMed 10369869 http://www.ncbi.nlm.nih.gov/pubmed/10369869 PubMed 10607953 http://www.ncbi.nlm.nih.gov/pubmed/10607953 PubMed 10633135 http://www.ncbi.nlm.nih.gov/pubmed/10633135 PubMed 10757647 http://www.ncbi.nlm.nih.gov/pubmed/10757647 PubMed 10807696 http://www.ncbi.nlm.nih.gov/pubmed/10807696 PubMed 10830906 http://www.ncbi.nlm.nih.gov/pubmed/10830906 PubMed 11313763 http://www.ncbi.nlm.nih.gov/pubmed/11313763 PubMed 11439000 http://www.ncbi.nlm.nih.gov/pubmed/11439000 PubMed 11912510 http://www.ncbi.nlm.nih.gov/pubmed/11912510 PubMed 12072059 http://www.ncbi.nlm.nih.gov/pubmed/12072059 PubMed 12121355 http://www.ncbi.nlm.nih.gov/pubmed/12121355 PubMed 12239718 http://www.ncbi.nlm.nih.gov/pubmed/12239718 PubMed 12372058 http://www.ncbi.nlm.nih.gov/pubmed/12372058 PubMed 12548749 http://www.ncbi.nlm.nih.gov/pubmed/12548749 PubMed 12560944 http://www.ncbi.nlm.nih.gov/pubmed/12560944 PubMed 12668604 http://www.ncbi.nlm.nih.gov/pubmed/12668604 PubMed 12746422 http://www.ncbi.nlm.nih.gov/pubmed/12746422 PubMed 12752120 http://www.ncbi.nlm.nih.gov/pubmed/12752120 PubMed 12786758 http://www.ncbi.nlm.nih.gov/pubmed/12786758 PubMed 1324944 http://www.ncbi.nlm.nih.gov/pubmed/1324944 PubMed 14694360 http://www.ncbi.nlm.nih.gov/pubmed/14694360 PubMed 14722929 http://www.ncbi.nlm.nih.gov/pubmed/14722929 PubMed 15057823 http://www.ncbi.nlm.nih.gov/pubmed/15057823 PubMed 15482471 http://www.ncbi.nlm.nih.gov/pubmed/15482471 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15592461 http://www.ncbi.nlm.nih.gov/pubmed/15592461 PubMed 15666300 http://www.ncbi.nlm.nih.gov/pubmed/15666300 PubMed 15952212 http://www.ncbi.nlm.nih.gov/pubmed/15952212 PubMed 15954104 http://www.ncbi.nlm.nih.gov/pubmed/15954104 PubMed 15994881 http://www.ncbi.nlm.nih.gov/pubmed/15994881 PubMed 15996214 http://www.ncbi.nlm.nih.gov/pubmed/15996214 PubMed 16849369 http://www.ncbi.nlm.nih.gov/pubmed/16849369 PubMed 17660464 http://www.ncbi.nlm.nih.gov/pubmed/17660464 PubMed 17666888 http://www.ncbi.nlm.nih.gov/pubmed/17666888 PubMed 17935238 http://www.ncbi.nlm.nih.gov/pubmed/17935238 PubMed 17993581 http://www.ncbi.nlm.nih.gov/pubmed/17993581 PubMed 18688874 http://www.ncbi.nlm.nih.gov/pubmed/18688874 PubMed 19283857 http://www.ncbi.nlm.nih.gov/pubmed/19283857 PubMed 19340074 http://www.ncbi.nlm.nih.gov/pubmed/19340074 PubMed 19384972 http://www.ncbi.nlm.nih.gov/pubmed/19384972 PubMed 19416251 http://www.ncbi.nlm.nih.gov/pubmed/19416251 PubMed 23680645 http://www.ncbi.nlm.nih.gov/pubmed/23680645 PubMed 9139825 http://www.ncbi.nlm.nih.gov/pubmed/9139825 PubMed 9328482 http://www.ncbi.nlm.nih.gov/pubmed/9328482 PubMed 9336442 http://www.ncbi.nlm.nih.gov/pubmed/9336442 PubMed 9422505 http://www.ncbi.nlm.nih.gov/pubmed/9422505 PubMed 9471561 http://www.ncbi.nlm.nih.gov/pubmed/9471561 PubMed 9529365 http://www.ncbi.nlm.nih.gov/pubmed/9529365 PubMed 9600457 http://www.ncbi.nlm.nih.gov/pubmed/9600457 PubMed 9620796 http://www.ncbi.nlm.nih.gov/pubmed/9620796 PubMed 9856479 http://www.ncbi.nlm.nih.gov/pubmed/9856479 Reactome R-HSA-190704 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-190704 Reactome R-HSA-190827 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-190827 Reactome R-HSA-190861 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-190861 Reactome R-HSA-190872 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-190872 RefSeq NP_003995 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_003995 RefSeq XP_011533351 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011533351 SMART SM00037 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00037 SMART SM01089 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM01089 SMR P29033 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P29033 STRING 9606.ENSP00000372295 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000372295&targetmode=cogs TCDB 1.A.24.1 http://www.tcdb.org/search/result.php?tc=1.A.24.1 UCSC uc001umy http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001umy&org=rat UniGene Hs.524894 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.524894 UniGene Hs.714494 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.714494 UniProtKB CXB2_HUMAN http://www.uniprot.org/uniprot/CXB2_HUMAN UniProtKB-AC P29033 http://www.uniprot.org/uniprot/P29033 charge swissprot:CXB2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CXB2_HUMAN eggNOG ENOG410IFM8 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IFM8 eggNOG ENOG410Y7VN http://eggnogapi.embl.de/nog_data/html/tree/ENOG410Y7VN epestfind swissprot:CXB2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CXB2_HUMAN garnier swissprot:CXB2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CXB2_HUMAN helixturnhelix swissprot:CXB2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CXB2_HUMAN hmoment swissprot:CXB2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CXB2_HUMAN iep swissprot:CXB2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CXB2_HUMAN inforesidue swissprot:CXB2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CXB2_HUMAN neXtProt NX_P29033 http://www.nextprot.org/db/entry/NX_P29033 octanol swissprot:CXB2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CXB2_HUMAN pepcoil swissprot:CXB2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CXB2_HUMAN pepdigest swissprot:CXB2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CXB2_HUMAN pepinfo swissprot:CXB2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CXB2_HUMAN pepnet swissprot:CXB2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CXB2_HUMAN pepstats swissprot:CXB2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CXB2_HUMAN pepwheel swissprot:CXB2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CXB2_HUMAN pepwindow swissprot:CXB2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CXB2_HUMAN sigcleave swissprot:CXB2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CXB2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS MRP3_HUMAN Event=Alternative splicing; Named isoforms=5; Comment=Additional isoforms seem to exist.; Name=1; Synonyms=MRP3; IsoId=O15438-1; Sequence=Displayed; Name=2; Synonyms=MRP3A; IsoId=O15438-2; Sequence=VSP_000042; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=3; Synonyms=MRP3B; IsoId=O15438-3; Sequence=VSP_000040, VSP_000041; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=4; Synonyms=MRP3S1; IsoId=O15438-4; Sequence=VSP_043864; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available.; Name=5; IsoId=O15438-5; Sequence=VSP_039041, VSP_039042; Note=No experimental confirmation available.; # AltName MRP3_HUMAN ATP-binding cassette sub-family C member 3 # AltName MRP3_HUMAN Multi-specific organic anion transporter D # AltName MRP3_HUMAN Multidrug resistance-associated protein 3 # BioGrid 114255 9 # CCDS CCDS32681 -. [O15438-1] # CCDS CCDS45739 -. [O15438-5] # ChiTaRS ABCC3 human # DrugBank DB00091 Cyclosporine # DrugBank DB00143 Glutathione # DrugBank DB00158 Folic Acid # DrugBank DB00257 Clotrimazole # DrugBank DB00286 Conjugated Estrogens # DrugBank DB00328 Indomethacin # DrugBank DB00338 Omeprazole # DrugBank DB00515 Cisplatin # DrugBank DB00541 Vincristine # DrugBank DB00544 Fluorouracil # DrugBank DB00563 Methotrexate # DrugBank DB00650 Leucovorin # DrugBank DB00661 Verapamil # DrugBank DB00709 Lamivudine # DrugBank DB00773 Etoposide # DrugBank DB00973 Ezetimibe # DrugBank DB00997 Doxorubicin # DrugBank DB01011 Metyrapone # DrugBank DB01016 Glyburide # DrugBank DB01032 Probenecid # DrugBank DB01045 Rifampicin # DrugBank DB01115 Nifedipine # DrugBank DB01138 Sulfinpyrazone # DrugBank DB01174 Phenobarbital # DrugBank DB02659 Cholic Acid # DrugBank DB08884 Gadoxetate # Ensembl ENST00000285238 ENSP00000285238; ENSG00000108846. [O15438-1] # Ensembl ENST00000427699 ENSP00000395160; ENSG00000108846. [O15438-5] # Ensembl ENST00000502426 ENSP00000427073; ENSG00000108846. [O15438-3] # Ensembl ENST00000505699 ENSP00000427521; ENSG00000108846. [O15438-2] # ExpressionAtlas O15438 baseline and differential # FUNCTION MRP3_HUMAN May act as an inducible transporter in the biliary and intestinal excretion of organic anions. Acts as an alternative route for the export of bile acids and glucuronides from cholestatic hepatocytes (By similarity). {ECO 0000250}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0016020 membrane; TAS:ProtInc. # GO_function GO:0005524 ATP binding; TAS:ProtInc. # GO_function GO:0008514 organic anion transmembrane transporter activity; TAS:ProtInc. # GO_function GO:0015432 bile acid-exporting ATPase activity; TAS:Reactome. # GO_function GO:0042626 ATPase activity, coupled to transmembrane movement of substances; TAS:ProtInc. # GO_function GO:0043225 ATPase-coupled anion transmembrane transporter activity; TAS:Reactome. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0015721 bile acid and bile salt transport; TAS:Reactome. # GO_process GO:0055085 transmembrane transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0055085 transmembrane transport # Gene3D 3.40.50.300 -; 2. # Genevisible O15438 HS # HGNC HGNC:54 ABCC3 # IntAct O15438 5 # InterPro IPR003439 ABC_transporter-like # InterPro IPR003593 AAA+_ATPase # InterPro IPR005292 Multidrug-R_assoc # InterPro IPR011527 ABC1_TM_dom # InterPro IPR017871 ABC_transporter_CS # InterPro IPR027417 P-loop_NTPase # InterPro IPR030242 ABCC3 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02000 Transporters # KEGG_Pathway ko02010 ABC transporters # KEGG_Pathway ko04976 Bile secretion # MIM 604323 gene # Organism MRP3_HUMAN Homo sapiens (Human) # PANTHER PTHR24223:SF221 PTHR24223:SF221; 2 # PIR JE0336 JE0336 # PROSITE PS00211 ABC_TRANSPORTER_1; 2 # PROSITE PS50893 ABC_TRANSPORTER_2; 2 # PROSITE PS50929 ABC_TM1F; 2 # Pfam PF00005 ABC_tran; 2 # Pfam PF00664 ABC_membrane; 2 # Proteomes UP000005640 Chromosome 17 # Reactome R-HSA-159418 Recycling of bile acids and salts # Reactome R-HSA-382556 ABC-family proteins mediated transport # RecName MRP3_HUMAN Canalicular multispecific organic anion transporter 2 # RefSeq NP_001137542 NM_001144070.1. [O15438-5] # RefSeq NP_003777 NM_003786.3. [O15438-1] # SEQUENCE CAUTION Sequence=AAB71756.1; Type=Frameshift; Positions=1334, 1338; Evidence={ECO:0000305}; Sequence=AAD01430.1; Type=Frameshift; Positions=355, 359, 361; Evidence={ECO 0000305}; Sequence=AAD38185.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305}; # SIMILARITY Belongs to the ABC transporter superfamily. ABCC family. Conjugate transporter (TC 3.A.1.208) subfamily. {ECO 0000305}. # SIMILARITY Contains 2 ABC transmembrane type-1 domains. {ECO:0000255|PROSITE-ProRule PRU00441}. # SIMILARITY Contains 2 ABC transporter domains. {ECO:0000255|PROSITE-ProRule PRU00434}. # SMART SM00382 AAA; 2 # SUBCELLULAR LOCATION MRP3_HUMAN Membrane; Multi-pass membrane protein. # SUPFAM SSF52540 SSF52540; 2 # SUPFAM SSF90123 SSF90123; 2 # TCDB 3.A.1.208 the atp-binding cassette (abc) superfamily # TIGRFAMs TIGR00957 MRP_assoc_pro # TISSUE SPECIFICITY MRP3_HUMAN Mainly expressed in the liver. Also expressed in small intestine, colon, prostate, testis, brain and at a lower level in the kidney. # UCSC uc002isk human. [O15438-1] # WEB RESOURCE MRP3_HUMAN Name=ABCMdb; Note=Database for mutations in ABC proteins; URL="http //abcmutations.hegelab.org/proteinDetails?uniprot_id=O15438"; # eggNOG COG1132 LUCA # eggNOG KOG0054 Eukaryota BLAST swissprot:MRP3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:MRP3_HUMAN BioCyc ZFISH:ENSG00000108846-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000108846-MONOMER COXPRESdb 8714 http://coxpresdb.jp/data/gene/8714.shtml CleanEx HS_ABCC3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ABCC3 DOI 10.1002/hep.510290404 http://dx.doi.org/10.1002/hep.510290404 DOI 10.1006/bbrc.1998.9546 http://dx.doi.org/10.1006/bbrc.1998.9546 DOI 10.1016/S0005-2736(98)00233-8 http://dx.doi.org/10.1016/S0005-2736(98)00233-8 DOI 10.1016/S0014-5793(98)00899-0 http://dx.doi.org/10.1016/S0014-5793(98)00899-0 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature04689 http://dx.doi.org/10.1038/nature04689 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1093/jnci/90.22.1735 http://dx.doi.org/10.1093/jnci/90.22.1735 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/gb-2004-5-2-r8 http://dx.doi.org/10.1186/gb-2004-5-2-r8 DrugBank DB00091 http://www.drugbank.ca/drugs/DB00091 DrugBank DB00143 http://www.drugbank.ca/drugs/DB00143 DrugBank DB00158 http://www.drugbank.ca/drugs/DB00158 DrugBank DB00257 http://www.drugbank.ca/drugs/DB00257 DrugBank DB00286 http://www.drugbank.ca/drugs/DB00286 DrugBank DB00328 http://www.drugbank.ca/drugs/DB00328 DrugBank DB00338 http://www.drugbank.ca/drugs/DB00338 DrugBank DB00515 http://www.drugbank.ca/drugs/DB00515 DrugBank DB00541 http://www.drugbank.ca/drugs/DB00541 DrugBank DB00544 http://www.drugbank.ca/drugs/DB00544 DrugBank DB00563 http://www.drugbank.ca/drugs/DB00563 DrugBank DB00650 http://www.drugbank.ca/drugs/DB00650 DrugBank DB00661 http://www.drugbank.ca/drugs/DB00661 DrugBank DB00709 http://www.drugbank.ca/drugs/DB00709 DrugBank DB00773 http://www.drugbank.ca/drugs/DB00773 DrugBank DB00973 http://www.drugbank.ca/drugs/DB00973 DrugBank DB00997 http://www.drugbank.ca/drugs/DB00997 DrugBank DB01011 http://www.drugbank.ca/drugs/DB01011 DrugBank DB01016 http://www.drugbank.ca/drugs/DB01016 DrugBank DB01032 http://www.drugbank.ca/drugs/DB01032 DrugBank DB01045 http://www.drugbank.ca/drugs/DB01045 DrugBank DB01115 http://www.drugbank.ca/drugs/DB01115 DrugBank DB01138 http://www.drugbank.ca/drugs/DB01138 DrugBank DB01174 http://www.drugbank.ca/drugs/DB01174 DrugBank DB02659 http://www.drugbank.ca/drugs/DB02659 DrugBank DB08884 http://www.drugbank.ca/drugs/DB08884 EMBL AB010887 http://www.ebi.ac.uk/ena/data/view/AB010887 EMBL AC004590 http://www.ebi.ac.uk/ena/data/view/AC004590 EMBL AC005921 http://www.ebi.ac.uk/ena/data/view/AC005921 EMBL AF009670 http://www.ebi.ac.uk/ena/data/view/AF009670 EMBL AF083552 http://www.ebi.ac.uk/ena/data/view/AF083552 EMBL AF085690 http://www.ebi.ac.uk/ena/data/view/AF085690 EMBL AF085691 http://www.ebi.ac.uk/ena/data/view/AF085691 EMBL AF085692 http://www.ebi.ac.uk/ena/data/view/AF085692 EMBL AF104943 http://www.ebi.ac.uk/ena/data/view/AF104943 EMBL AF154001 http://www.ebi.ac.uk/ena/data/view/AF154001 EMBL BC046126 http://www.ebi.ac.uk/ena/data/view/BC046126 EMBL BC137347 http://www.ebi.ac.uk/ena/data/view/BC137347 EMBL BC137348 http://www.ebi.ac.uk/ena/data/view/BC137348 EMBL CH471109 http://www.ebi.ac.uk/ena/data/view/CH471109 EMBL CH471109 http://www.ebi.ac.uk/ena/data/view/CH471109 EMBL CH471109 http://www.ebi.ac.uk/ena/data/view/CH471109 EMBL U83659 http://www.ebi.ac.uk/ena/data/view/U83659 EMBL Y17151 http://www.ebi.ac.uk/ena/data/view/Y17151 Ensembl ENST00000285238 http://www.ensembl.org/id/ENST00000285238 Ensembl ENST00000427699 http://www.ensembl.org/id/ENST00000427699 Ensembl ENST00000502426 http://www.ensembl.org/id/ENST00000502426 Ensembl ENST00000505699 http://www.ensembl.org/id/ENST00000505699 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0008514 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008514 GO_function GO:0015432 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015432 GO_function GO:0042626 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042626 GO_function GO:0043225 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043225 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0015721 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015721 GO_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 3.40.50.300 http://www.cathdb.info/version/latest/superfamily/3.40.50.300 GeneCards ABCC3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ABCC3 GeneID 8714 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=8714 GeneTree ENSGT00860000133687 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00860000133687 HGNC HGNC:54 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:54 HOVERGEN HBG108314 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG108314&db=HOVERGEN HPA CAB037136 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB037136 HPA HPA048483 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA048483 InParanoid O15438 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O15438 IntAct O15438 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O15438* InterPro IPR003439 http://www.ebi.ac.uk/interpro/entry/IPR003439 InterPro IPR003593 http://www.ebi.ac.uk/interpro/entry/IPR003593 InterPro IPR005292 http://www.ebi.ac.uk/interpro/entry/IPR005292 InterPro IPR011527 http://www.ebi.ac.uk/interpro/entry/IPR011527 InterPro IPR017871 http://www.ebi.ac.uk/interpro/entry/IPR017871 InterPro IPR027417 http://www.ebi.ac.uk/interpro/entry/IPR027417 InterPro IPR030242 http://www.ebi.ac.uk/interpro/entry/IPR030242 Jabion 8714 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=8714 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Gene hsa:8714 http://www.genome.jp/dbget-bin/www_bget?hsa:8714 KEGG_Orthology KO:K05667 http://www.genome.jp/dbget-bin/www_bget?KO:K05667 KEGG_Pathway ko02010 http://www.genome.jp/kegg-bin/show_pathway?ko02010 KEGG_Pathway ko04976 http://www.genome.jp/kegg-bin/show_pathway?ko04976 MIM 604323 http://www.ncbi.nlm.nih.gov/omim/604323 OMA LIDEPEC http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=LIDEPEC OrthoDB EOG091G00IN http://cegg.unige.ch/orthodb/results?searchtext=EOG091G00IN PANTHER PTHR24223:SF221 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24223:SF221 PROSITE PS00211 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00211 PROSITE PS50893 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50893 PROSITE PS50929 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50929 PSORT swissprot:MRP3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:MRP3_HUMAN PSORT-B swissprot:MRP3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:MRP3_HUMAN PSORT2 swissprot:MRP3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:MRP3_HUMAN Pfam PF00005 http://pfam.xfam.org/family/PF00005 Pfam PF00664 http://pfam.xfam.org/family/PF00664 PharmGKB PA376 http://www.pharmgkb.org/do/serve?objId=PA376&objCls=Gene Phobius swissprot:MRP3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:MRP3_HUMAN PhylomeDB O15438 http://phylomedb.org/?seqid=O15438 ProteinModelPortal O15438 http://www.proteinmodelportal.org/query/uniprot/O15438 PubMed 10094960 http://www.ncbi.nlm.nih.gov/pubmed/10094960 PubMed 14759258 http://www.ncbi.nlm.nih.gov/pubmed/14759258 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16625196 http://www.ncbi.nlm.nih.gov/pubmed/16625196 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 9270026 http://www.ncbi.nlm.nih.gov/pubmed/9270026 PubMed 9738950 http://www.ncbi.nlm.nih.gov/pubmed/9738950 PubMed 9813153 http://www.ncbi.nlm.nih.gov/pubmed/9813153 PubMed 9827529 http://www.ncbi.nlm.nih.gov/pubmed/9827529 PubMed 9889399 http://www.ncbi.nlm.nih.gov/pubmed/9889399 Reactome R-HSA-159418 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-159418 Reactome R-HSA-382556 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-382556 RefSeq NP_001137542 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001137542 RefSeq NP_003777 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_003777 SMART SM00382 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00382 SMR O15438 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=O15438 STRING 9606.ENSP00000285238 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000285238&targetmode=cogs SUPFAM SSF52540 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52540 SUPFAM SSF90123 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF90123 TCDB 3.A.1.208 http://www.tcdb.org/search/result.php?tc=3.A.1.208 TIGRFAMs TIGR00957 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00957 UCSC uc002isk http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002isk&org=rat UniGene Hs.463421 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.463421 UniProtKB MRP3_HUMAN http://www.uniprot.org/uniprot/MRP3_HUMAN UniProtKB-AC O15438 http://www.uniprot.org/uniprot/O15438 charge swissprot:MRP3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:MRP3_HUMAN eggNOG COG1132 http://eggnogapi.embl.de/nog_data/html/tree/COG1132 eggNOG KOG0054 http://eggnogapi.embl.de/nog_data/html/tree/KOG0054 epestfind swissprot:MRP3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:MRP3_HUMAN garnier swissprot:MRP3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:MRP3_HUMAN helixturnhelix swissprot:MRP3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:MRP3_HUMAN hmoment swissprot:MRP3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:MRP3_HUMAN iep swissprot:MRP3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:MRP3_HUMAN inforesidue swissprot:MRP3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:MRP3_HUMAN neXtProt NX_O15438 http://www.nextprot.org/db/entry/NX_O15438 octanol swissprot:MRP3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:MRP3_HUMAN pepcoil swissprot:MRP3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:MRP3_HUMAN pepdigest swissprot:MRP3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:MRP3_HUMAN pepinfo swissprot:MRP3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:MRP3_HUMAN pepnet swissprot:MRP3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:MRP3_HUMAN pepstats swissprot:MRP3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:MRP3_HUMAN pepwheel swissprot:MRP3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:MRP3_HUMAN pepwindow swissprot:MRP3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:MRP3_HUMAN sigcleave swissprot:MRP3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:MRP3_HUMAN ## Database ID URL or Descriptions # AltName GTR1_HUMAN Glucose transporter type 1, erythrocyte/brain # AltName GTR1_HUMAN HepG2 glucose transporter # BioGrid 112404 25 # CDD cd06174 MFS # ChiTaRS SLC2A1 human # DISEASE GTR1_HUMAN Dystonia 9 (DYT9) [MIM 601042] An autosomal dominant neurologic disorder characterized by childhood onset of paroxysmal choreoathetosis and progressive spastic paraplegia. Most patients show some degree of cognitive impairment. Other variable features may include seizures, migraine headaches, and ataxia. {ECO 0000269|PubMed 21832227}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE GTR1_HUMAN Epilepsy, idiopathic generalized 12 (EIG12) [MIM 614847] A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. Seizure types include juvenile myoclonic seizures, absence seizures, and generalized tonic-clonic seizures. In some EIG12 patients seizures may remit with age. {ECO 0000269|PubMed 19798636, ECO 0000269|PubMed 22282645, ECO 0000269|PubMed 23280796}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. # DISEASE GTR1_HUMAN GLUT1 deficiency syndrome 1 (GLUT1DS1) [MIM 606777] A neurologic disorder showing wide phenotypic variability. The most severe 'classic' phenotype comprises infantile-onset epileptic encephalopathy associated with delayed development, acquired microcephaly, motor incoordination, and spasticity. Onset of seizures, usually characterized by apneic episodes, staring spells, and episodic eye movements, occurs within the first 4 months of life. Other paroxysmal findings include intermittent ataxia, confusion, lethargy, sleep disturbance, and headache. Varying degrees of cognitive impairment can occur, ranging from learning disabilities to severe mental retardation. {ECO 0000269|PubMed 10227690, ECO 0000269|PubMed 10980529, ECO 0000269|PubMed 11136715, ECO 0000269|PubMed 11603379, ECO 0000269|PubMed 12325075, ECO 0000269|PubMed 15622525, ECO 0000269|PubMed 19901175, ECO 0000269|PubMed 20129935, ECO 0000269|PubMed 20221955, ECO 0000269|PubMed 20574033}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE GTR1_HUMAN GLUT1 deficiency syndrome 2 (GLUT1DS2) [MIM 612126] A clinically variable disorder characterized primarily by onset in childhood of paroxysmal exercise-induced dyskinesia. The dyskinesia involves transient abnormal involuntary movements, such as dystonia and choreoathetosis, induced by exercise or exertion, and affecting the exercised limbs. Some patients may also have epilepsy, most commonly childhood absence epilepsy. Mild mental retardation may also occur. In some patients involuntary exertion- induced dystonic, choreoathetotic, and ballistic movements may be associated with macrocytic hemolytic anemia. {ECO 0000269|PubMed 14605501, ECO 0000269|PubMed 18451999, ECO 0000269|PubMed 19630075, ECO 0000269|PubMed 19798636, ECO 0000269|PubMed 20129935, ECO 0000269|PubMed 20574033, ECO 0000269|PubMed 20621801, ECO 0000269|PubMed 20830593, ECO 0000269|PubMed 21204808}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE GTR1_HUMAN Stomatin-deficient cryohydrocytosis with neurologic defects (SDCHCN) [MIM 608885] A rare form of stomatocytosis characterized by episodic hemolytic anemia, cold-induced red cells cation leak, erratic hyperkalemia, neonatal hyperbilirubinemia, hepatosplenomegaly, cataracts, seizures, mental retardation, and movement disorder. {ECO 0000269|PubMed 21791420, ECO 0000269|PubMed 22492876}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DrugBank DB00292 Etomidate # Ensembl ENST00000426263 ENSP00000416293; ENSG00000117394 # ExpressionAtlas P11166 baseline and differential # FUNCTION GTR1_HUMAN Facilitative glucose transporter. This isoform may be responsible for constitutive or basal glucose uptake. Has a very broad substrate specificity; can transport a wide range of aldoses including both pentoses and hexoses. {ECO 0000269|PubMed 18245775, ECO 0000269|PubMed 19449892}. # GO_component GO:0000139 Golgi membrane; TAS:Reactome. # GO_component GO:0001939 female pronucleus; IEA:Ensembl. # GO_component GO:0005829 cytosol; IEA:Ensembl. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0005887 integral component of plasma membrane; IDA:UniProtKB. # GO_component GO:0005901 caveola; IEA:Ensembl. # GO_component GO:0005911 cell-cell junction; IEA:Ensembl. # GO_component GO:0016020 membrane; TAS:ProtInc. # GO_component GO:0016323 basolateral plasma membrane; IEA:Ensembl. # GO_component GO:0016324 apical plasma membrane; IEA:Ensembl. # GO_component GO:0030496 midbody; IDA:UniProtKB. # GO_component GO:0030864 cortical actin cytoskeleton; IDA:UniProtKB. # GO_component GO:0042470 melanosome; IEA:UniProtKB-SubCell. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_component GO:0072562 blood microparticle; IDA:UniProtKB. # GO_function GO:0005355 glucose transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0033300 dehydroascorbic acid transporter activity; EXP:Reactome. # GO_function GO:0042910 xenobiotic transporter activity; IEA:Ensembl. # GO_function GO:0043621 protein self-association; IDA:UniProtKB. # GO_function GO:0055056 D-glucose transmembrane transporter activity; IMP:UniProtKB. # GO_process GO:0005989 lactose biosynthetic process; TAS:Reactome. # GO_process GO:0006461 protein complex assembly; IDA:UniProtKB. # GO_process GO:0006970 response to osmotic stress; IEA:Ensembl. # GO_process GO:0015758 glucose transport; IDA:UniProtKB. # GO_process GO:0019852 L-ascorbic acid metabolic process; TAS:Reactome. # GO_process GO:0042149 cellular response to glucose starvation; IEA:Ensembl. # GO_process GO:0050796 regulation of insulin secretion; TAS:Reactome. # GO_process GO:1904659 glucose transmembrane transport; IMP:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005829 cytosol # GOslim_component GO:0005856 cytoskeleton # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0031410 cytoplasmic vesicle # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0005975 carbohydrate metabolic process # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0008150 biological_process # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0044281 small molecule metabolic process # GOslim_process GO:0055085 transmembrane transport # Genevisible P11166 HS # HGNC HGNC:11005 SLC2A1 # INTERACTION GTR1_HUMAN Self; NbExp=3; IntAct=EBI-717153, EBI-717153; # IntAct P11166 25 # InterPro IPR002439 Glu_transpt_1 # InterPro IPR003663 Sugar/inositol_transpt # InterPro IPR005828 MFS_sugar_transport-like # InterPro IPR005829 Sugar_transporter_CS # InterPro IPR020846 MFS_dom # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02000 Transporters # KEGG_Brite ko02001 Solute carrier family # KEGG_Disease H00831 [Nervous system disease] Primary dystonia # KEGG_Disease H00836 [Nervous system disease; Inherited metabolic disease] Glucose transport defect of the blood-brain barrier # KEGG_Pathway ko04066 HIF-1 signaling pathway # KEGG_Pathway ko04920 Adipocytokine signaling pathway # KEGG_Pathway ko04976 Bile secretion # KEGG_Pathway ko05166 HTLV-I infection # KEGG_Pathway ko05200 Pathways in cancer # KEGG_Pathway ko05211 Renal cell carcinoma # MIM 138140 gene # MIM 601042 phenotype # MIM 606777 phenotype # MIM 608885 phenotype # MIM 612126 phenotype # MIM 614847 phenotype # Organism GTR1_HUMAN Homo sapiens (Human) # Orphanet 168577 Hereditary cryohydrocytosis with reduced stomatin # Orphanet 53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity # Orphanet 64280 Childhood absence epilepsy # Orphanet 71277 Encephalopathy due to GLUT1 deficiency # Orphanet 98811 Paroxysmal exertion-induced dyskinesia # PDB 1SUK Model; -; A=1-492 # PDB 4PYP X-ray; 3.17 A; A=1-492 # PDB 5EQG X-ray; 2.90 A; A=1-492 # PDB 5EQH X-ray; 2.99 A; A=1-492 # PDB 5EQI X-ray; 3.00 A; A=1-492 # PIR A27217 A27217 # PRINTS PR00171 SUGRTRNSPORT # PRINTS PR01190 GLUCTRSPORT1 # PROSITE PS00216 SUGAR_TRANSPORT_1 # PROSITE PS00217 SUGAR_TRANSPORT_2 # PROSITE PS50850 MFS # Pfam PF00083 Sugar_tr # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-196836 Vitamin C (ascorbate) metabolism # Reactome R-HSA-422356 Regulation of insulin secretion # Reactome R-HSA-428790 Facilitative Na+-independent glucose transporters # Reactome R-HSA-5653890 Lactose synthesis # Reactome R-HSA-70153 Glucose transport # RecName GTR1_HUMAN Solute carrier family 2, facilitated glucose transporter member 1 # RefSeq NP_006507 NM_006516.2 # SIMILARITY Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION GTR1_HUMAN Cell membrane; Multi-pass membrane protein. Melanosome. Note=Localizes primarily at the cell surface. Identified by mass spectrometry in melanosome fractions from stage I to stage IV. # SUBUNIT GTR1_HUMAN Interacts with GIPC (via PDZ domain) (By similarity). Found in a complex with ADD2, DMTN and SLC2A1. Interacts (via C- terminus cytoplasmic region) with DMTN isoform 2. Interacts with SNX27; the interaction is required when endocytosed to prevent degradation in lysosomes and promote recycling to the plasma membrane. Interacts with STOM. {ECO 0000250, ECO 0000269|PubMed 18347014, ECO 0000269|PubMed 23219802, ECO 0000269|PubMed 23563491, ECO 0000269|PubMed 24847886}. # SUPFAM SSF103473 SSF103473; 2 # TCDB 2.A.1.1.28 the major facilitator superfamily (mfs) # TIGRFAMs TIGR00879 SP # TISSUE SPECIFICITY Detected in erythrocytes (at protein level). Expressed at variable levels in many human tissues. {ECO:0000269|PubMed 23219802}. # UCSC uc001cik human # WEB RESOURCE GTR1_HUMAN Name=Wikipedia; Note=GLUT1 entry; URL="https //en.wikipedia.org/wiki/GLUT1"; # eggNOG COG0477 LUCA # eggNOG KOG0569 Eukaryota BLAST swissprot:GTR1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:GTR1_HUMAN BioCyc ZFISH:ENSG00000117394-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000117394-MONOMER COXPRESdb 6513 http://coxpresdb.jp/data/gene/6513.shtml CleanEx HS_SLC2A1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC2A1 DIP DIP-23N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-23N DOI 10.1001/archneurol.2009.236 http://dx.doi.org/10.1001/archneurol.2009.236 DOI 10.1002/1098-1004(200009)16:3<224::AID-HUMU5>3.3.CO http://dx.doi.org/10.1002/1098-1004(200009)16:3<224::AID-HUMU5>3.3.CO DOI 10.1002/ana.10311 http://dx.doi.org/10.1002/ana.10311 DOI 10.1002/ana.1222 http://dx.doi.org/10.1002/ana.1222 DOI 10.1002/ana.20331 http://dx.doi.org/10.1002/ana.20331 DOI 10.1002/ana.21724 http://dx.doi.org/10.1002/ana.21724 DOI 10.1002/ana.23702 http://dx.doi.org/10.1002/ana.23702 DOI 10.1002/mds.22507 http://dx.doi.org/10.1002/mds.22507 DOI 10.1007/s00415-010-5702-5 http://dx.doi.org/10.1007/s00415-010-5702-5 DOI 10.1016/j.bbamem.2012.11.030 http://dx.doi.org/10.1016/j.bbamem.2012.11.030 DOI 10.1016/j.jns.2010.05.017 http://dx.doi.org/10.1016/j.jns.2010.05.017 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1016/j.molcel.2008.07.007 http://dx.doi.org/10.1016/j.molcel.2008.07.007 DOI 10.1021/bi900521n http://dx.doi.org/10.1021/bi900521n DOI 10.1021/pr060363j http://dx.doi.org/10.1021/pr060363j DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1023/A:1022544131826 http://dx.doi.org/10.1023/A:1022544131826 DOI 10.1023/A:1025999914822 http://dx.doi.org/10.1023/A:1025999914822 DOI 10.1038/nature13306 http://dx.doi.org/10.1038/nature13306 DOI 10.1038/nbt.1532 http://dx.doi.org/10.1038/nbt.1532 DOI 10.1038/ncb2721 http://dx.doi.org/10.1038/ncb2721 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1055/s-0030-1248264 http://dx.doi.org/10.1055/s-0030-1248264 DOI 10.1073/pnas.1210303109 http://dx.doi.org/10.1073/pnas.1210303109 DOI 10.1074/jbc.M707818200 http://dx.doi.org/10.1074/jbc.M707818200 DOI 10.1074/jbc.M708896200 http://dx.doi.org/10.1074/jbc.M708896200 DOI 10.1093/brain/awp336 http://dx.doi.org/10.1093/brain/awp336 DOI 10.1093/hmg/10.1.63 http://dx.doi.org/10.1093/hmg/10.1.63 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1528-1167.2010.02726.x http://dx.doi.org/10.1111/j.1528-1167.2010.02726.x DOI 10.1126/science.3839598 http://dx.doi.org/10.1126/science.3839598 DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 DOI 10.1126/scisignal.2001570 http://dx.doi.org/10.1126/scisignal.2001570 DOI 10.1172/JCI34438 http://dx.doi.org/10.1172/JCI34438 DOI 10.1182/blood-2010-12-326645 http://dx.doi.org/10.1182/blood-2010-12-326645 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DOI 10.1210/jc.2012-1399 http://dx.doi.org/10.1210/jc.2012-1399 DOI 10.1212/WNL.0b013e3181eb58b4 http://dx.doi.org/10.1212/WNL.0b013e3181eb58b4 DOI 10.1212/WNL.0b013e31822e0479 http://dx.doi.org/10.1212/WNL.0b013e31822e0479 DOI 10.1212/WNL.0b013e318247ff54 http://dx.doi.org/10.1212/WNL.0b013e318247ff54 DOI 10.2337/diab.37.5.657 http://dx.doi.org/10.2337/diab.37.5.657 DrugBank DB00292 http://www.drugbank.ca/drugs/DB00292 EMBL AF070544 http://www.ebi.ac.uk/ena/data/view/AF070544 EMBL AK292791 http://www.ebi.ac.uk/ena/data/view/AK292791 EMBL AK312403 http://www.ebi.ac.uk/ena/data/view/AK312403 EMBL AY034633 http://www.ebi.ac.uk/ena/data/view/AY034633 EMBL BC118590 http://www.ebi.ac.uk/ena/data/view/BC118590 EMBL CH471059 http://www.ebi.ac.uk/ena/data/view/CH471059 EMBL K03195 http://www.ebi.ac.uk/ena/data/view/K03195 EMBL M20653 http://www.ebi.ac.uk/ena/data/view/M20653 Ensembl ENST00000426263 http://www.ensembl.org/id/ENST00000426263 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000139 GO_component GO:0001939 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001939 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0005901 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005901 GO_component GO:0005911 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005911 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016323 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:0030496 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030496 GO_component GO:0030864 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030864 GO_component GO:0042470 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042470 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_component GO:0072562 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0072562 GO_function GO:0005355 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005355 GO_function GO:0033300 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033300 GO_function GO:0042910 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042910 GO_function GO:0043621 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043621 GO_function GO:0055056 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055056 GO_process GO:0005989 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005989 GO_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GO_process GO:0006970 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006970 GO_process GO:0015758 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015758 GO_process GO:0019852 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019852 GO_process GO:0042149 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042149 GO_process GO:0050796 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050796 GO_process GO:1904659 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1904659 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0005856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005856 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0031410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0005975 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005975 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC2A1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC2A1 GeneID 6513 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6513 GeneTree ENSGT00760000119022 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119022 HGNC HGNC:11005 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11005 HOVERGEN HBG014816 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG014816&db=HOVERGEN HPA CAB002759 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB002759 HPA HPA031345 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA031345 HPA HPA058494 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA058494 InParanoid P11166 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P11166 IntAct P11166 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P11166* InterPro IPR002439 http://www.ebi.ac.uk/interpro/entry/IPR002439 InterPro IPR003663 http://www.ebi.ac.uk/interpro/entry/IPR003663 InterPro IPR005828 http://www.ebi.ac.uk/interpro/entry/IPR005828 InterPro IPR005829 http://www.ebi.ac.uk/interpro/entry/IPR005829 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 6513 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6513 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Disease H00831 http://www.genome.jp/dbget-bin/www_bget?H00831 KEGG_Disease H00836 http://www.genome.jp/dbget-bin/www_bget?H00836 KEGG_Gene hsa:6513 http://www.genome.jp/dbget-bin/www_bget?hsa:6513 KEGG_Orthology KO:K07299 http://www.genome.jp/dbget-bin/www_bget?KO:K07299 KEGG_Pathway ko04066 http://www.genome.jp/kegg-bin/show_pathway?ko04066 KEGG_Pathway ko04920 http://www.genome.jp/kegg-bin/show_pathway?ko04920 KEGG_Pathway ko04976 http://www.genome.jp/kegg-bin/show_pathway?ko04976 KEGG_Pathway ko05166 http://www.genome.jp/kegg-bin/show_pathway?ko05166 KEGG_Pathway ko05200 http://www.genome.jp/kegg-bin/show_pathway?ko05200 KEGG_Pathway ko05211 http://www.genome.jp/kegg-bin/show_pathway?ko05211 MIM 138140 http://www.ncbi.nlm.nih.gov/omim/138140 MIM 601042 http://www.ncbi.nlm.nih.gov/omim/601042 MIM 606777 http://www.ncbi.nlm.nih.gov/omim/606777 MIM 608885 http://www.ncbi.nlm.nih.gov/omim/608885 MIM 612126 http://www.ncbi.nlm.nih.gov/omim/612126 MIM 614847 http://www.ncbi.nlm.nih.gov/omim/614847 MINT MINT-1386229 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1386229 OMA MLMMNLL http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=MLMMNLL Orphanet 168577 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=168577 Orphanet 53583 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=53583 Orphanet 64280 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=64280 Orphanet 71277 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=71277 Orphanet 98811 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=98811 OrthoDB EOG091G0A9K http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0A9K PDB 1SUK http://www.ebi.ac.uk/pdbe-srv/view/entry/1SUK PDB 4PYP http://www.ebi.ac.uk/pdbe-srv/view/entry/4PYP PDB 5EQG http://www.ebi.ac.uk/pdbe-srv/view/entry/5EQG PDB 5EQH http://www.ebi.ac.uk/pdbe-srv/view/entry/5EQH PDB 5EQI http://www.ebi.ac.uk/pdbe-srv/view/entry/5EQI PDBsum 1SUK http://www.ebi.ac.uk/pdbsum/1SUK PDBsum 4PYP http://www.ebi.ac.uk/pdbsum/4PYP PDBsum 5EQG http://www.ebi.ac.uk/pdbsum/5EQG PDBsum 5EQH http://www.ebi.ac.uk/pdbsum/5EQH PDBsum 5EQI http://www.ebi.ac.uk/pdbsum/5EQI PRINTS PR00171 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00171 PRINTS PR01190 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01190 PROSITE PS00216 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00216 PROSITE PS00217 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00217 PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PSORT swissprot:GTR1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:GTR1_HUMAN PSORT-B swissprot:GTR1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:GTR1_HUMAN PSORT2 swissprot:GTR1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:GTR1_HUMAN Pfam PF00083 http://pfam.xfam.org/family/PF00083 PharmGKB PA35875 http://www.pharmgkb.org/do/serve?objId=PA35875&objCls=Gene Phobius swissprot:GTR1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:GTR1_HUMAN PhylomeDB P11166 http://phylomedb.org/?seqid=P11166 ProteinModelPortal P11166 http://www.proteinmodelportal.org/query/uniprot/P11166 PubMed 10227690 http://www.ncbi.nlm.nih.gov/pubmed/10227690 PubMed 10980529 http://www.ncbi.nlm.nih.gov/pubmed/10980529 PubMed 11136715 http://www.ncbi.nlm.nih.gov/pubmed/11136715 PubMed 11603379 http://www.ncbi.nlm.nih.gov/pubmed/11603379 PubMed 12325075 http://www.ncbi.nlm.nih.gov/pubmed/12325075 PubMed 14605501 http://www.ncbi.nlm.nih.gov/pubmed/14605501 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15622525 http://www.ncbi.nlm.nih.gov/pubmed/15622525 PubMed 17081065 http://www.ncbi.nlm.nih.gov/pubmed/17081065 PubMed 18245775 http://www.ncbi.nlm.nih.gov/pubmed/18245775 PubMed 18347014 http://www.ncbi.nlm.nih.gov/pubmed/18347014 PubMed 18451999 http://www.ncbi.nlm.nih.gov/pubmed/18451999 PubMed 18691976 http://www.ncbi.nlm.nih.gov/pubmed/18691976 PubMed 19349973 http://www.ncbi.nlm.nih.gov/pubmed/19349973 PubMed 19449892 http://www.ncbi.nlm.nih.gov/pubmed/19449892 PubMed 19630075 http://www.ncbi.nlm.nih.gov/pubmed/19630075 PubMed 19798636 http://www.ncbi.nlm.nih.gov/pubmed/19798636 PubMed 19901175 http://www.ncbi.nlm.nih.gov/pubmed/19901175 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 20129935 http://www.ncbi.nlm.nih.gov/pubmed/20129935 PubMed 20221955 http://www.ncbi.nlm.nih.gov/pubmed/20221955 PubMed 20574033 http://www.ncbi.nlm.nih.gov/pubmed/20574033 PubMed 20621801 http://www.ncbi.nlm.nih.gov/pubmed/20621801 PubMed 20830593 http://www.ncbi.nlm.nih.gov/pubmed/20830593 PubMed 21204808 http://www.ncbi.nlm.nih.gov/pubmed/21204808 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 21406692 http://www.ncbi.nlm.nih.gov/pubmed/21406692 PubMed 21791420 http://www.ncbi.nlm.nih.gov/pubmed/21791420 PubMed 21832227 http://www.ncbi.nlm.nih.gov/pubmed/21832227 PubMed 22282645 http://www.ncbi.nlm.nih.gov/pubmed/22282645 PubMed 22492876 http://www.ncbi.nlm.nih.gov/pubmed/22492876 PubMed 22814378 http://www.ncbi.nlm.nih.gov/pubmed/22814378 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 23219802 http://www.ncbi.nlm.nih.gov/pubmed/23219802 PubMed 23280796 http://www.ncbi.nlm.nih.gov/pubmed/23280796 PubMed 23563491 http://www.ncbi.nlm.nih.gov/pubmed/23563491 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 24847886 http://www.ncbi.nlm.nih.gov/pubmed/24847886 PubMed 2834252 http://www.ncbi.nlm.nih.gov/pubmed/2834252 PubMed 3839598 http://www.ncbi.nlm.nih.gov/pubmed/3839598 Reactome R-HSA-196836 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-196836 Reactome R-HSA-422356 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-422356 Reactome R-HSA-428790 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-428790 Reactome R-HSA-5653890 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5653890 Reactome R-HSA-70153 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-70153 RefSeq NP_006507 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_006507 SMR P11166 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P11166 STRING 9606.ENSP00000416293 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000416293&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.1.1.28 http://www.tcdb.org/search/result.php?tc=2.A.1.1.28 TIGRFAMs TIGR00879 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00879 UCSC uc001cik http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001cik&org=rat UniGene Hs.473721 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.473721 UniProtKB GTR1_HUMAN http://www.uniprot.org/uniprot/GTR1_HUMAN UniProtKB-AC P11166 http://www.uniprot.org/uniprot/P11166 charge swissprot:GTR1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:GTR1_HUMAN eggNOG COG0477 http://eggnogapi.embl.de/nog_data/html/tree/COG0477 eggNOG KOG0569 http://eggnogapi.embl.de/nog_data/html/tree/KOG0569 epestfind swissprot:GTR1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:GTR1_HUMAN garnier swissprot:GTR1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:GTR1_HUMAN helixturnhelix swissprot:GTR1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:GTR1_HUMAN hmoment swissprot:GTR1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:GTR1_HUMAN iep swissprot:GTR1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:GTR1_HUMAN inforesidue swissprot:GTR1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:GTR1_HUMAN neXtProt NX_P11166 http://www.nextprot.org/db/entry/NX_P11166 octanol swissprot:GTR1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:GTR1_HUMAN pepcoil swissprot:GTR1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:GTR1_HUMAN pepdigest swissprot:GTR1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:GTR1_HUMAN pepinfo swissprot:GTR1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:GTR1_HUMAN pepnet swissprot:GTR1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:GTR1_HUMAN pepstats swissprot:GTR1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:GTR1_HUMAN pepwheel swissprot:GTR1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:GTR1_HUMAN pepwindow swissprot:GTR1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:GTR1_HUMAN sigcleave swissprot:GTR1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:GTR1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS TRPM6_HUMAN Event=Alternative splicing; Named isoforms=7; Name=TRPM6a; IsoId=Q9BX84-1; Sequence=Displayed; Name=TRPM6b; IsoId=Q9BX84-2; Sequence=VSP_012069; Name=TRPM6c; IsoId=Q9BX84-3; Sequence=VSP_012070; Name=TRPM6t; IsoId=Q9BX84-4; Sequence=VSP_012075, VSP_012076; Name=M6-kinase 1; IsoId=Q9BX84-5; Sequence=VSP_012074; Note=Lacks the ion channel region.; Name=M6-kinase 2; IsoId=Q9BX84-6; Sequence=VSP_012073; Note=Lacks the ion channel region.; Name=M6-kinase 3; IsoId=Q9BX84-7; Sequence=VSP_012071, VSP_012072; Note=Lacks the ion channel region.; # AltName TRPM6_HUMAN Channel kinase 2 # AltName TRPM6_HUMAN Melastatin-related TRP cation channel 6 # CATALYTIC ACTIVITY TRPM6_HUMAN ATP + a protein = ADP + a phosphoprotein. # CCDS CCDS55318 -. [Q9BX84-3] # CCDS CCDS55319 -. [Q9BX84-2] # CCDS CCDS6647 -. [Q9BX84-1] # DISEASE TRPM6_HUMAN Hypomagnesemia 1 (HOMG1) [MIM 602014] A disorder due to a primary defect in intestinal magnesium absorption. It is characterized by low levels of serum magnesium alongside with a normal renal magnesium secretion, secondary hypocalcemia and calcinocis. Affected individuals show neurologic symptoms of hypomagnesemic hypocalcemia, including seizures and muscle spasms, during infancy. Hypocalcemia is secondary to parathyroid failure resulting from magnesium deficiency. Untreated, the disorder may be fatal or may result in neurological damage. {ECO 0000269|PubMed 12032568, ECO 0000269|PubMed 23942199}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000360774 ENSP00000354006; ENSG00000119121. [Q9BX84-1] # Ensembl ENST00000361255 ENSP00000354962; ENSG00000119121. [Q9BX84-3] # Ensembl ENST00000449912 ENSP00000396672; ENSG00000119121. [Q9BX84-2] # ExpressionAtlas Q9BX84 baseline and differential # FUNCTION TRPM6_HUMAN Essential ion channel and serine/threonine-protein kinase. Crucial for magnesium homeostasis. Has an important role in epithelial magnesium transport and in the active magnesium absorption in the gut and kidney. Isoforms of the type M6-kinase lack the ion channel region. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0016324 apical plasma membrane; IEA:Ensembl. # GO_component GO:0031526 brush border membrane; IEA:Ensembl. # GO_function GO:0004674 protein serine/threonine kinase activity; IEA:UniProtKB-KW. # GO_function GO:0005262 calcium channel activity; TAS:Reactome. # GO_function GO:0005524 ATP binding; IEA:UniProtKB-KW. # GO_function GO:0046872 metal ion binding; IEA:UniProtKB-KW. # GO_process GO:0009636 response to toxic substance; IDA:UniProtKB. # GO_process GO:0051262 protein tetramerization; IEA:InterPro. # GO_process GO:0070588 calcium ion transmembrane transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0016301 kinase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0008150 biological_process # GOslim_process GO:0055085 transmembrane transport # Genevisible Q9BX84 HS # HGNC HGNC:17995 TRPM6 # IntAct Q9BX84 3 # InterPro IPR004166 MHCK_EF2_kinase # InterPro IPR005821 Ion_trans_dom # InterPro IPR011009 Kinase-like_dom # InterPro IPR029597 TRPM6 # InterPro IPR032415 TRPM_tetra # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko01000 Enzymes # KEGG_Brite ko01001 Protein kinases # KEGG_Brite ko04040 Ion channels # KEGG_Disease H01210 [Inherited metabolic disease] Hypomagnesemia # KEGG_Pathway ko04978 Mineral absorption # MIM 602014 phenotype # MIM 607009 gene # Organism TRPM6_HUMAN Homo sapiens (Human) # Orphanet 30924 Primary hypomagnesemia with secondary hypocalcemia # PANTHER PTHR13800:SF15 PTHR13800:SF15; 2 # PROSITE PS51158 ALPHA_KINASE # Pfam PF00520 Ion_trans # Pfam PF02816 Alpha_kinase # Pfam PF16519 TRPM_tetra # Proteomes UP000005640 Chromosome 9 # Reactome R-HSA-3295583 TRP channels # RecName TRPM6_HUMAN Transient receptor potential cation channel subfamily M member 6 # RefSeq NP_001170781 NM_001177310.1. [Q9BX84-2] # RefSeq NP_001170782 NM_001177311.1. [Q9BX84-3] # RefSeq NP_060132 NM_017662.4. [Q9BX84-1] # SIMILARITY Contains 1 alpha-type protein kinase domain. {ECO:0000255|PROSITE-ProRule PRU00501}. # SIMILARITY In the C-terminal section; belongs to the protein kinase superfamily. Alpha-type protein kinase family. ALPK subfamily. {ECO 0000305}. # SIMILARITY In the N-terminal section; belongs to the transient receptor (TC 1.A.4) family. LTrpC subfamily. TRPM6 sub-subfamily. {ECO 0000305}. # SMART SM00811 Alpha_kinase # SUBCELLULAR LOCATION TRPM6_HUMAN Cell membrane {ECO 0000269|PubMed 23942199}; Multi-pass membrane protein. # SUBUNIT TRPM6_HUMAN Forms heterodimers with TRPM7. TRPM6 requires the presence of TRPM7 to be targeted to the cell membrane (in HEK 293 cells). Interacts (via kinase domain) with RACK1. {ECO 0000269|PubMed 14976260, ECO 0000269|PubMed 18258429}. # SUPFAM SSF56112 SSF56112 # TCDB 1.A.4.5 the transient receptor potential ca(2+) channel (trp-cc) family # TISSUE SPECIFICITY TRPM6_HUMAN Highly expressed in kidney and colon. Isoform TRPM6a and isoform TRPM6b, are coexpressed with TRPM7 in kidney, and testis, and are also found in several cell lines of lung origin. Isoform TRPM6c is detected only in testis and in NCI-H510A small cell lung carcinoma cells. # UCSC uc004ajk human. [Q9BX84-1] # eggNOG ENOG410INBW Eukaryota # eggNOG ENOG410ZSH9 LUCA BLAST swissprot:TRPM6_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:TRPM6_HUMAN BioCyc ZFISH:HS04275-MONOMER http://biocyc.org/getid?id=ZFISH:HS04275-MONOMER COXPRESdb 140803 http://coxpresdb.jp/data/gene/140803.shtml CleanEx HS_TRPM6 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_TRPM6 DOI 10.1016/j.cub.2007.12.058 http://dx.doi.org/10.1016/j.cub.2007.12.058 DOI 10.1038/ejhg.2013.178 http://dx.doi.org/10.1038/ejhg.2013.178 DOI 10.1038/nature02465 http://dx.doi.org/10.1038/nature02465 DOI 10.1038/nature05610 http://dx.doi.org/10.1038/nature05610 DOI 10.1038/ng889 http://dx.doi.org/10.1038/ng889 DOI 10.1073/pnas.0305252101 http://dx.doi.org/10.1073/pnas.0305252101 EC_number EC:2.7.11.1 http://www.genome.jp/dbget-bin/www_bget?EC:2.7.11.1 EMBL AF350881 http://www.ebi.ac.uk/ena/data/view/AF350881 EMBL AF448232 http://www.ebi.ac.uk/ena/data/view/AF448232 EMBL AL354795 http://www.ebi.ac.uk/ena/data/view/AL354795 EMBL AY333282 http://www.ebi.ac.uk/ena/data/view/AY333282 EMBL AY333283 http://www.ebi.ac.uk/ena/data/view/AY333283 EMBL AY333284 http://www.ebi.ac.uk/ena/data/view/AY333284 EMBL AY333285 http://www.ebi.ac.uk/ena/data/view/AY333285 EMBL AY333286 http://www.ebi.ac.uk/ena/data/view/AY333286 EMBL AY333287 http://www.ebi.ac.uk/ena/data/view/AY333287 EMBL AY333288 http://www.ebi.ac.uk/ena/data/view/AY333288 ENZYME 2.7.11.1 http://enzyme.expasy.org/EC/2.7.11.1 Ensembl ENST00000360774 http://www.ensembl.org/id/ENST00000360774 Ensembl ENST00000361255 http://www.ensembl.org/id/ENST00000361255 Ensembl ENST00000449912 http://www.ensembl.org/id/ENST00000449912 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:0031526 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031526 GO_function GO:0004674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004674 GO_function GO:0005262 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005262 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0046872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046872 GO_process GO:0009636 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009636 GO_process GO:0051262 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051262 GO_process GO:0070588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070588 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0016301 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016301 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards TRPM6 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=TRPM6 GeneID 140803 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=140803 GeneTree ENSGT00760000119127 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119127 H-InvDB HIX0008102 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0008102 HGNC HGNC:17995 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:17995 HOGENOM HOG000230920 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000230920&db=HOGENOM6 HOVERGEN HBG055663 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG055663&db=HOVERGEN HPA HPA007037 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA007037 InParanoid Q9BX84 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9BX84 IntAct Q9BX84 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9BX84* IntEnz 2.7.11.1 http://www.ebi.ac.uk/intenz/query?cmd=Search&q=2.7.11.1 InterPro IPR004166 http://www.ebi.ac.uk/interpro/entry/IPR004166 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR011009 http://www.ebi.ac.uk/interpro/entry/IPR011009 InterPro IPR029597 http://www.ebi.ac.uk/interpro/entry/IPR029597 InterPro IPR032415 http://www.ebi.ac.uk/interpro/entry/IPR032415 Jabion 140803 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=140803 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Brite ko01001 http://www.genome.jp/dbget-bin/www_bget?ko01001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H01210 http://www.genome.jp/dbget-bin/www_bget?H01210 KEGG_Gene hsa:140803 http://www.genome.jp/dbget-bin/www_bget?hsa:140803 KEGG_Orthology KO:K04981 http://www.genome.jp/dbget-bin/www_bget?KO:K04981 KEGG_Pathway ko04978 http://www.genome.jp/kegg-bin/show_pathway?ko04978 MIM 602014 http://www.ncbi.nlm.nih.gov/omim/602014 MIM 607009 http://www.ncbi.nlm.nih.gov/omim/607009 MINT MINT-6699468 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-6699468 OMA LMECMVH http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=LMECMVH Orphanet 30924 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=30924 OrthoDB EOG091G0DHL http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0DHL PANTHER PTHR13800:SF15 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR13800:SF15 PROSITE PS51158 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51158 PSORT swissprot:TRPM6_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:TRPM6_HUMAN PSORT-B swissprot:TRPM6_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:TRPM6_HUMAN PSORT2 swissprot:TRPM6_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:TRPM6_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF02816 http://pfam.xfam.org/family/PF02816 Pfam PF16519 http://pfam.xfam.org/family/PF16519 PharmGKB PA38479 http://www.pharmgkb.org/do/serve?objId=PA38479&objCls=Gene Phobius swissprot:TRPM6_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:TRPM6_HUMAN PhylomeDB Q9BX84 http://phylomedb.org/?seqid=Q9BX84 ProteinModelPortal Q9BX84 http://www.proteinmodelportal.org/query/uniprot/Q9BX84 PubMed 11357414 http://www.ncbi.nlm.nih.gov/pubmed/11357414 PubMed 12032568 http://www.ncbi.nlm.nih.gov/pubmed/12032568 PubMed 14976260 http://www.ncbi.nlm.nih.gov/pubmed/14976260 PubMed 15164053 http://www.ncbi.nlm.nih.gov/pubmed/15164053 PubMed 17344846 http://www.ncbi.nlm.nih.gov/pubmed/17344846 PubMed 18258429 http://www.ncbi.nlm.nih.gov/pubmed/18258429 PubMed 23942199 http://www.ncbi.nlm.nih.gov/pubmed/23942199 Reactome R-HSA-3295583 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-3295583 RefSeq NP_001170781 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001170781 RefSeq NP_001170782 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001170782 RefSeq NP_060132 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_060132 SMART SM00811 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00811 SMR Q9BX84 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9BX84 STRING 9606.ENSP00000354006 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000354006&targetmode=cogs SUPFAM SSF56112 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF56112 TCDB 1.A.4.5 http://www.tcdb.org/search/result.php?tc=1.A.4.5 UCSC uc004ajk http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc004ajk&org=rat UniGene Hs.272225 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.272225 UniProtKB TRPM6_HUMAN http://www.uniprot.org/uniprot/TRPM6_HUMAN UniProtKB-AC Q9BX84 http://www.uniprot.org/uniprot/Q9BX84 charge swissprot:TRPM6_HUMAN http://rest.g-language.org/emboss/charge/swissprot:TRPM6_HUMAN eggNOG ENOG410INBW http://eggnogapi.embl.de/nog_data/html/tree/ENOG410INBW eggNOG ENOG410ZSH9 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410ZSH9 epestfind swissprot:TRPM6_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:TRPM6_HUMAN garnier swissprot:TRPM6_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:TRPM6_HUMAN helixturnhelix swissprot:TRPM6_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:TRPM6_HUMAN hmoment swissprot:TRPM6_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:TRPM6_HUMAN iep swissprot:TRPM6_HUMAN http://rest.g-language.org/emboss/iep/swissprot:TRPM6_HUMAN inforesidue swissprot:TRPM6_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:TRPM6_HUMAN neXtProt NX_Q9BX84 http://www.nextprot.org/db/entry/NX_Q9BX84 octanol swissprot:TRPM6_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:TRPM6_HUMAN pepcoil swissprot:TRPM6_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:TRPM6_HUMAN pepdigest swissprot:TRPM6_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:TRPM6_HUMAN pepinfo swissprot:TRPM6_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:TRPM6_HUMAN pepnet swissprot:TRPM6_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:TRPM6_HUMAN pepstats swissprot:TRPM6_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:TRPM6_HUMAN pepwheel swissprot:TRPM6_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:TRPM6_HUMAN pepwindow swissprot:TRPM6_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:TRPM6_HUMAN sigcleave swissprot:TRPM6_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:TRPM6_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS NU214_HUMAN Event=Alternative splicing; Named isoforms=5; Name=1; IsoId=P35658-1; Sequence=Displayed; Name=2; IsoId=P35658-2; Sequence=VSP_034896; Note=No experimental confirmation available.; Name=3; IsoId=P35658-3; Sequence=VSP_034897; Note=No experimental confirmation available.; Name=4; IsoId=P35658-4; Sequence=VSP_034896, VSP_034897; Name=5; IsoId=P35658-5; Sequence=VSP_034896, VSP_034898, VSP_034899; # AltName NU214_HUMAN 214 kDa nucleoporin # AltName NU214_HUMAN Nucleoporin Nup214 # AltName NU214_HUMAN Protein CAN # BioGrid 113717 78 # CCDS CCDS6940 -. [P35658-1] # CCDS CCDS83429 -. [P35658-4] # ChiTaRS NUP214 human # DISEASE NU214_HUMAN Note=A chromosomal aberration involving NUP214 is found in a subset of acute myeloid leukemia (AML); also known as acute non-lymphocytic leukemia. Translocation t(6;9)(p23;q34) with DEK. It results in the formation of a DEK-CAN fusion gene. {ECO 0000269|PubMed 1549122}. # DISEASE NU214_HUMAN Note=A chromosomal aberration involving NUP214 is found in some cases of acute undifferentiated leukemia (AUL). Translocation t(6;9)(q21;q34.1) with SET. {ECO 0000269|PubMed 1630450}. # DOMAIN NU214_HUMAN Contains FG repeats. # DOMAIN NU214_HUMAN The beta-propeller contains long interblade connector loops, and mediates interaction with DDX19B. # Ensembl ENST00000359428 ENSP00000352400; ENSG00000126883. [P35658-1] # Ensembl ENST00000411637 ENSP00000396576; ENSG00000126883. [P35658-4] # ExpressionAtlas P35658 baseline and differential # FUNCTION NU214_HUMAN May serve as a docking site in the receptor-mediated import of substrates across the nuclear pore complex. # GO_component GO:0005634 nucleus; IDA:HPA. # GO_component GO:0005654 nucleoplasm; TAS:Reactome. # GO_component GO:0005829 cytosol; TAS:Reactome. # GO_component GO:0005925 focal adhesion; IDA:HPA. # GO_component GO:0043231 intracellular membrane-bounded organelle; IDA:HPA. # GO_component GO:1990876 cytoplasmic side of nuclear pore; IDA:GO_Central. # GO_function GO:0005049 nuclear export signal receptor activity; IDA:GO_Central. # GO_function GO:0008139 nuclear localization sequence binding; IBA:GO_Central. # GO_function GO:0017056 structural constituent of nuclear pore; IBA:GO_Central. # GO_process GO:0006405 RNA export from nucleus; IBA:GO_Central. # GO_process GO:0006406 mRNA export from nucleus; TAS:Reactome. # GO_process GO:0006409 tRNA export from nucleus; TAS:Reactome. # GO_process GO:0006606 protein import into nucleus; IBA:GO_Central. # GO_process GO:0006611 protein export from nucleus; IMP:MGI. # GO_process GO:0007077 mitotic nuclear envelope disassembly; TAS:Reactome. # GO_process GO:0010827 regulation of glucose transport; TAS:Reactome. # GO_process GO:0016032 viral process; TAS:Reactome. # GO_process GO:0016925 protein sumoylation; TAS:Reactome. # GO_process GO:0019083 viral transcription; TAS:Reactome. # GO_process GO:0031047 gene silencing by RNA; TAS:Reactome. # GO_process GO:0043488 regulation of mRNA stability; TAS:Reactome. # GO_process GO:0051726 regulation of cell cycle; IEA:Ensembl. # GO_process GO:0075733 intracellular transport of virus; TAS:Reactome. # GO_process GO:1900034 regulation of cellular response to heat; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005654 nucleoplasm # GOslim_component GO:0005829 cytosol # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0005198 structural molecule activity # GOslim_function GO:0008565 protein transporter activity # GOslim_process GO:0006464 cellular protein modification process # GOslim_process GO:0006810 transport # GOslim_process GO:0006913 nucleocytoplasmic transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0044403 symbiosis, encompassing mutualism through parasitism # GOslim_process GO:0061024 membrane organization # Gene3D 2.130.10.10 -; 1. # Genevisible P35658 HS # HGNC HGNC:8064 NUP214 # IntAct P35658 39 # InterPro IPR001680 WD40_repeat # InterPro IPR015943 WD40/YVTN_repeat-like_dom # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Pathway ko03013 RNA transport # KEGG_Pathway ko05169 Epstein-Barr virus infection # MIM 114350 gene # Organism NU214_HUMAN Homo sapiens (Human) # Orphanet 402014 'Acute myeloid leukemia with t(6;9)(p23;q34)' # PDB 2OIT X-ray; 1.65 A; A=1-434 # PDB 3FHC X-ray; 2.80 A; A=1-405 # PDB 3FMO X-ray; 2.51 A; A=1-450 # PDB 3FMP X-ray; 3.19 A; A/C=1-450 # PDB 5DIS X-ray; 2.85 A; D=1916-2027 # PIR S26058 S26058 # PTM NU214_HUMAN Probably glycosylated as it reacts with wheat germ agglutinin (WGA). # Proteomes UP000005640 Chromosome 9 # Reactome R-HSA-1169408 ISG15 antiviral mechanism # Reactome R-HSA-159227 Transport of the SLBP independent Mature mRNA # Reactome R-HSA-159230 Transport of the SLBP Dependant Mature mRNA # Reactome R-HSA-159231 Transport of Mature mRNA Derived from an Intronless Transcript # Reactome R-HSA-159236 Transport of Mature mRNA derived from an Intron-Containing Transcript # Reactome R-HSA-165054 Rev-mediated nuclear export of HIV RNA # Reactome R-HSA-168271 Transport of Ribonucleoproteins into the Host Nucleus # Reactome R-HSA-168276 NS1 Mediated Effects on Host Pathways # Reactome R-HSA-168325 Viral Messenger RNA Synthesis # Reactome R-HSA-168333 NEP/NS2 Interacts with the Cellular Export Machinery # Reactome R-HSA-170822 Regulation of Glucokinase by Glucokinase Regulatory Protein # Reactome R-HSA-180746 Nuclear import of Rev protein # Reactome R-HSA-180910 Vpr-mediated nuclear import of PICs # Reactome R-HSA-191859 snRNP Assembly # Reactome R-HSA-3108214 SUMOylation of DNA damage response and repair proteins # Reactome R-HSA-3301854 Nuclear Pore Complex (NPC) Disassembly # Reactome R-HSA-3371453 Regulation of HSF1-mediated heat shock response # Reactome R-HSA-450520 HuR (ELAVL1) binds and stabilizes mRNA # Reactome R-HSA-4570464 SUMOylation of RNA binding proteins # Reactome R-HSA-4615885 SUMOylation of DNA replication proteins # Reactome R-HSA-5578749 Transcriptional regulation by small RNAs # Reactome R-HSA-6784531 tRNA processing in the nucleus # RecName NU214_HUMAN Nuclear pore complex protein Nup214 # RefSeq NP_001305253 NM_001318324.1. [P35658-4] # RefSeq NP_001305254 NM_001318325.1 # RefSeq NP_005076 NM_005085.3. [P35658-1] # SEQUENCE CAUTION Sequence=BAD07398.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SMART SM00320 WD40; 2 # SUBCELLULAR LOCATION NU214_HUMAN Nucleus, nuclear pore complex. Note=Cytoplasmic filaments. # SUBUNIT (Microbial infection) Interacts with human herpes virus 1 (HHV-1) protein UL25; this interaction might be essential to the capsid docking onto the host nuclear pore. {ECO:0000269|PubMed 19386703}. # SUBUNIT NU214_HUMAN Homodimer. Interacts with NUP214; this interaction increases upon lipopolysaccharide (LPS) stimulation (PubMed 14766228). Interacts with DDX19 (PubMed 19219046, PubMed 19208808). Interacts with NUP88 (PubMed 9049309). Interacts with XPO1 (PubMed 9049309). Interacts with XPO5 (PubMed 11777942). {ECO 0000269|PubMed 11777942, ECO 0000269|PubMed 14766228, ECO 0000269|PubMed 19208808, ECO 0000269|PubMed 19219046, ECO 0000269|PubMed 9049309}. # TCDB 1.I.1.1 the nuclear pore complex (npc) family # TISSUE SPECIFICITY NU214_HUMAN Expressed in thymus, spleen, bone marrow, kidney, brain and testis, but hardly in all other tissues or in whole embryos during development. # UCSC uc004cag human. [P35658-1] # WEB RESOURCE NU214_HUMAN Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http //atlasgeneticsoncology.org/Genes/CANID29.html"; # eggNOG ENOG410YBVS LUCA # eggNOG KOG3630 Eukaryota BLAST swissprot:NU214_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:NU214_HUMAN BioCyc ZFISH:ENSG00000126883-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000126883-MONOMER COXPRESdb 8021 http://coxpresdb.jp/data/gene/8021.shtml CleanEx HS_NUP214 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_NUP214 DIP DIP-38367N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-38367N DOI 10.1016/j.bbrc.2004.01.080 http://dx.doi.org/10.1016/j.bbrc.2004.01.080 DOI 10.1016/j.cell.2006.09.026 http://dx.doi.org/10.1016/j.cell.2006.09.026 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1016/j.molcel.2008.07.007 http://dx.doi.org/10.1016/j.molcel.2008.07.007 DOI 10.1021/ac9004309 http://dx.doi.org/10.1021/ac9004309 DOI 10.1021/pr070152u http://dx.doi.org/10.1021/pr070152u DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature02465 http://dx.doi.org/10.1038/nature02465 DOI 10.1038/nbt1240 http://dx.doi.org/10.1038/nbt1240 DOI 10.1038/nsmb.1561 http://dx.doi.org/10.1038/nsmb.1561 DOI 10.1073/pnas.0610828104 http://dx.doi.org/10.1073/pnas.0610828104 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1073/pnas.0813267106 http://dx.doi.org/10.1073/pnas.0813267106 DOI 10.1073/pnas.91.4.1519 http://dx.doi.org/10.1073/pnas.91.4.1519 DOI 10.1074/mcp.M111.015131 http://dx.doi.org/10.1074/mcp.M111.015131 DOI 10.1083/jcb.200110082 http://dx.doi.org/10.1083/jcb.200110082 DOI 10.1093/dnares/1.1.27 http://dx.doi.org/10.1093/dnares/1.1.27 DOI 10.1093/emboj/16.4.807 http://dx.doi.org/10.1093/emboj/16.4.807 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1133427 http://dx.doi.org/10.1126/science.1133427 DOI 10.1126/scisignal.2000007 http://dx.doi.org/10.1126/scisignal.2000007 DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 DOI 10.1126/scisignal.2001570 http://dx.doi.org/10.1126/scisignal.2001570 DOI 10.1128/JVI.02655-08 http://dx.doi.org/10.1128/JVI.02655-08 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AB159230 http://www.ebi.ac.uk/ena/data/view/AB159230 EMBL AL157938 http://www.ebi.ac.uk/ena/data/view/AL157938 EMBL BC045620 http://www.ebi.ac.uk/ena/data/view/BC045620 EMBL BC105998 http://www.ebi.ac.uk/ena/data/view/BC105998 EMBL D14689 http://www.ebi.ac.uk/ena/data/view/D14689 EMBL X64228 http://www.ebi.ac.uk/ena/data/view/X64228 Ensembl ENST00000359428 http://www.ensembl.org/id/ENST00000359428 Ensembl ENST00000411637 http://www.ensembl.org/id/ENST00000411637 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0005925 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005925 GO_component GO:0043231 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043231 GO_component GO:1990876 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1990876 GO_function GO:0005049 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005049 GO_function GO:0008139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008139 GO_function GO:0017056 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0017056 GO_process GO:0006405 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006405 GO_process GO:0006406 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006406 GO_process GO:0006409 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006409 GO_process GO:0006606 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006606 GO_process GO:0006611 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006611 GO_process GO:0007077 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007077 GO_process GO:0010827 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010827 GO_process GO:0016032 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016032 GO_process GO:0016925 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016925 GO_process GO:0019083 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019083 GO_process GO:0031047 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031047 GO_process GO:0043488 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043488 GO_process GO:0051726 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051726 GO_process GO:0075733 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0075733 GO_process GO:1900034 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1900034 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0005198 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005198 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_process GO:0006464 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006464 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006913 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006913 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0044403 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044403 GOslim_process GO:0061024 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061024 Gene3D 2.130.10.10 http://www.cathdb.info/version/latest/superfamily/2.130.10.10 GeneCards NUP214 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=NUP214 GeneID 8021 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=8021 GeneTree ENSGT00730000111045 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00730000111045 HGNC HGNC:8064 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:8064 HOVERGEN HBG052683 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052683&db=HOVERGEN HPA HPA018404 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA018404 HPA HPA048789 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA048789 InParanoid P35658 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P35658 IntAct P35658 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P35658* InterPro IPR001680 http://www.ebi.ac.uk/interpro/entry/IPR001680 InterPro IPR015943 http://www.ebi.ac.uk/interpro/entry/IPR015943 Jabion 8021 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=8021 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00002 http://www.genome.jp/dbget-bin/www_bget?ko00002 KEGG_Gene hsa:8021 http://www.genome.jp/dbget-bin/www_bget?hsa:8021 KEGG_Orthology KO:K14317 http://www.genome.jp/dbget-bin/www_bget?KO:K14317 KEGG_Pathway ko03013 http://www.genome.jp/kegg-bin/show_pathway?ko03013 KEGG_Pathway ko05169 http://www.genome.jp/kegg-bin/show_pathway?ko05169 MIM 114350 http://www.ncbi.nlm.nih.gov/omim/114350 MINT MINT-121482 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-121482 OMA FNFGIIT http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=FNFGIIT Orphanet 402014 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=402014 OrthoDB EOG091G02Y1 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G02Y1 PDB 2OIT http://www.ebi.ac.uk/pdbe-srv/view/entry/2OIT PDB 3FHC http://www.ebi.ac.uk/pdbe-srv/view/entry/3FHC PDB 3FMO http://www.ebi.ac.uk/pdbe-srv/view/entry/3FMO PDB 3FMP http://www.ebi.ac.uk/pdbe-srv/view/entry/3FMP PDB 5DIS http://www.ebi.ac.uk/pdbe-srv/view/entry/5DIS PDBsum 2OIT http://www.ebi.ac.uk/pdbsum/2OIT PDBsum 3FHC http://www.ebi.ac.uk/pdbsum/3FHC PDBsum 3FMO http://www.ebi.ac.uk/pdbsum/3FMO PDBsum 3FMP http://www.ebi.ac.uk/pdbsum/3FMP PDBsum 5DIS http://www.ebi.ac.uk/pdbsum/5DIS PSORT swissprot:NU214_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:NU214_HUMAN PSORT-B swissprot:NU214_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:NU214_HUMAN PSORT2 swissprot:NU214_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:NU214_HUMAN PharmGKB PA31851 http://www.pharmgkb.org/do/serve?objId=PA31851&objCls=Gene Phobius swissprot:NU214_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:NU214_HUMAN PhylomeDB P35658 http://phylomedb.org/?seqid=P35658 ProteinModelPortal P35658 http://www.proteinmodelportal.org/query/uniprot/P35658 PubMed 11777942 http://www.ncbi.nlm.nih.gov/pubmed/11777942 PubMed 14766228 http://www.ncbi.nlm.nih.gov/pubmed/14766228 PubMed 15164053 http://www.ncbi.nlm.nih.gov/pubmed/15164053 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 1549122 http://www.ncbi.nlm.nih.gov/pubmed/1549122 PubMed 1630450 http://www.ncbi.nlm.nih.gov/pubmed/1630450 PubMed 16959974 http://www.ncbi.nlm.nih.gov/pubmed/16959974 PubMed 16964243 http://www.ncbi.nlm.nih.gov/pubmed/16964243 PubMed 17081983 http://www.ncbi.nlm.nih.gov/pubmed/17081983 PubMed 17264208 http://www.ncbi.nlm.nih.gov/pubmed/17264208 PubMed 17924679 http://www.ncbi.nlm.nih.gov/pubmed/17924679 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 18691976 http://www.ncbi.nlm.nih.gov/pubmed/18691976 PubMed 19208808 http://www.ncbi.nlm.nih.gov/pubmed/19208808 PubMed 19219046 http://www.ncbi.nlm.nih.gov/pubmed/19219046 PubMed 19386703 http://www.ncbi.nlm.nih.gov/pubmed/19386703 PubMed 19413330 http://www.ncbi.nlm.nih.gov/pubmed/19413330 PubMed 19690332 http://www.ncbi.nlm.nih.gov/pubmed/19690332 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 21406692 http://www.ncbi.nlm.nih.gov/pubmed/21406692 PubMed 22223895 http://www.ncbi.nlm.nih.gov/pubmed/22223895 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 7584026 http://www.ncbi.nlm.nih.gov/pubmed/7584026 PubMed 8108440 http://www.ncbi.nlm.nih.gov/pubmed/8108440 PubMed 9049309 http://www.ncbi.nlm.nih.gov/pubmed/9049309 Reactome R-HSA-1169408 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1169408 Reactome R-HSA-159227 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-159227 Reactome R-HSA-159230 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-159230 Reactome R-HSA-159231 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-159231 Reactome R-HSA-159236 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-159236 Reactome R-HSA-165054 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-165054 Reactome R-HSA-168271 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-168271 Reactome R-HSA-168276 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-168276 Reactome R-HSA-168325 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-168325 Reactome R-HSA-168333 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-168333 Reactome R-HSA-170822 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-170822 Reactome R-HSA-180746 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-180746 Reactome R-HSA-180910 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-180910 Reactome R-HSA-191859 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-191859 Reactome R-HSA-3108214 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-3108214 Reactome R-HSA-3301854 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-3301854 Reactome R-HSA-3371453 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-3371453 Reactome R-HSA-450520 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-450520 Reactome R-HSA-4570464 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-4570464 Reactome R-HSA-4615885 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-4615885 Reactome R-HSA-5578749 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5578749 Reactome R-HSA-6784531 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6784531 RefSeq NP_001305253 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001305253 RefSeq NP_001305254 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001305254 RefSeq NP_005076 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_005076 SMART SM00320 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00320 SMR P35658 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P35658 STRING 9606.ENSP00000352400 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000352400&targetmode=cogs TCDB 1.I.1.1 http://www.tcdb.org/search/result.php?tc=1.I.1.1 UCSC uc004cag http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc004cag&org=rat UniGene Hs.654530 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.654530 UniProtKB NU214_HUMAN http://www.uniprot.org/uniprot/NU214_HUMAN UniProtKB-AC P35658 http://www.uniprot.org/uniprot/P35658 charge swissprot:NU214_HUMAN http://rest.g-language.org/emboss/charge/swissprot:NU214_HUMAN eggNOG ENOG410YBVS http://eggnogapi.embl.de/nog_data/html/tree/ENOG410YBVS eggNOG KOG3630 http://eggnogapi.embl.de/nog_data/html/tree/KOG3630 epestfind swissprot:NU214_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:NU214_HUMAN garnier swissprot:NU214_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:NU214_HUMAN helixturnhelix swissprot:NU214_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:NU214_HUMAN hmoment swissprot:NU214_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:NU214_HUMAN iep swissprot:NU214_HUMAN http://rest.g-language.org/emboss/iep/swissprot:NU214_HUMAN inforesidue swissprot:NU214_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:NU214_HUMAN neXtProt NX_P35658 http://www.nextprot.org/db/entry/NX_P35658 octanol swissprot:NU214_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:NU214_HUMAN pepcoil swissprot:NU214_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:NU214_HUMAN pepdigest swissprot:NU214_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:NU214_HUMAN pepinfo swissprot:NU214_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:NU214_HUMAN pepnet swissprot:NU214_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:NU214_HUMAN pepstats swissprot:NU214_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:NU214_HUMAN pepwheel swissprot:NU214_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:NU214_HUMAN pepwindow swissprot:NU214_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:NU214_HUMAN sigcleave swissprot:NU214_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:NU214_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS NPT2B_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=NaPi-3b; IsoId=O95436-1; Sequence=Displayed; Name=2; Synonyms=NaPi-2b, NaPi-IIb; IsoId=O95436-2; Sequence=VSP_016755; # AltName NPT2B_HUMAN Na(+)-dependent phosphate cotransporter 2B # AltName NPT2B_HUMAN NaPi3b # AltName NPT2B_HUMAN Sodium/phosphate cotransporter 2B # AltName NPT2B_HUMAN Solute carrier family 34 member 2 # BIOPHYSICOCHEMICAL PROPERTIES pH dependence: Optimum pH is 6.6. {ECO 0000269|PubMed:10329428}; # BioGrid 115819 14 # CCDS CCDS3435 -. [O95436-1] # CCDS CCDS54750 -. [O95436-2] # ChiTaRS SLC34A2 human # DISEASE NPT2B_HUMAN Note=A chromosomal aberration involving SLC34A2 is found in a glioblastoma multiforme cell line U-118MG. Results in the formation of a SLC34A2-ROS1 chimeric protein that retains a constitutive kinase activity. {ECO 0000269|PubMed 12661006}. # DISEASE NPT2B_HUMAN Pulmonary alveolar microlithiasis (PALM) [MIM 265100] Rare disease characterized by the deposition of calcium phosphate microliths throughout the lungs. Most patients are asymptomatic for several years or even for decades and generally, the diagnosis is incidental to clinical investigations unrelated to the disease. Cases with early-onset or rapid progression are rare. A 'sandstorm-appearing' chest roentgenogram is a typical diagnostic finding. The onset of this potentially lethal disease varies from the neonatal period to old age and the disease follows a long- term, progressive course, resulting in a slow deterioration of lung functions. Pulmonary alveolar microlithiasis is a recessive monogenic disease with full penetrance. {ECO 0000269|PubMed 16960801}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000382051 ENSP00000371483; ENSG00000157765. [O95436-1] # Ensembl ENST00000503434 ENSP00000423021; ENSG00000157765. [O95436-2] # Ensembl ENST00000504570 ENSP00000425501; ENSG00000157765. [O95436-2] # ExpressionAtlas O95436 baseline and differential # FUNCTION NPT2B_HUMAN May be involved in actively transporting phosphate into cells via Na(+) cotransport. It may be the main phosphate transport protein in the intestinal brush border membrane. May have a role in the synthesis of surfactant in lungs' alveoli. # GO_component GO:0005737 cytoplasm; IBA:GO_Central. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; NAS:UniProtKB. # GO_component GO:0005903 brush border; IBA:GO_Central. # GO_component GO:0016021 integral component of membrane; IDA:UniProtKB. # GO_component GO:0016324 apical plasma membrane; IDA:UniProtKB. # GO_component GO:0031526 brush border membrane; ISS:UniProtKB. # GO_component GO:0031982 vesicle; IDA:UniProtKB. # GO_function GO:0005315 inorganic phosphate transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015321 sodium-dependent phosphate transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0031402 sodium ion binding; IDA:UniProtKB. # GO_function GO:0042301 phosphate ion binding; IDA:UniProtKB. # GO_function NPT2B_HUMAN GO 0005436 sodium phosphate symporter activity; IDA UniProtKB. # GO_process GO:0001701 in utero embryonic development; IEA:Ensembl. # GO_process GO:0006817 phosphate ion transport; IDA:UniProtKB. # GO_process GO:0030643 cellular phosphate ion homeostasis; IDA:UniProtKB. # GO_process GO:0043627 response to estrogen; IEP:UniProtKB. # GO_process GO:0044267 cellular protein metabolic process; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0009790 embryo development # GOslim_process GO:0042592 homeostatic process # Genevisible O95436 HS # HGNC HGNC:11020 SLC34A2 # INDUCTION Down-regulated by EGF. {ECO:0000269|PubMed 11171583}. # InterPro IPR003841 Na/Pi_transpt # InterPro IPR029852 Na/Pi_transpt_2B # KEGG_Brite ko02001 Solute carrier family # KEGG_Disease H00014 [Cancer] Non-small cell lung cancer # KEGG_Disease H01298 [Lung disease] Pulmonary alveolar microlithiasis (PALM) # MIM 265100 phenotype # MIM 604217 gene # Organism NPT2B_HUMAN Homo sapiens (Human) # Orphanet 60025 Pulmonary alveolar microlithiasis # PANTHER PTHR10010:SF23 PTHR10010:SF23; 2 # Pfam PF02690 Na_Pi_cotrans; 2 # Proteomes UP000005640 Chromosome 4 # Reactome R-HSA-427589 Type II Na+/Pi cotransporters # Reactome R-HSA-5683826 Surfactant metabolism # RecName NPT2B_HUMAN Sodium-dependent phosphate transport protein 2B # RefSeq NP_001171469 NM_001177998.1 # RefSeq NP_001171470 NM_001177999.1 # RefSeq NP_006415 NM_006424.2 # SEQUENCE CAUTION Sequence=BAC11354.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the SLC34A transporter family. {ECO 0000305}. # SUBCELLULAR LOCATION NPT2B_HUMAN Membrane; Multi-pass membrane protein. # TCDB 2.A.58.1:the phosphate na(+) symporter (pnas) family # TIGRFAMs TIGR01013 2a58 # TISSUE SPECIFICITY NPT2B_HUMAN Highly expressed in lung. Also detected in pancreas, kidney, small intestine, ovary, testis, prostate and mammary gland. In lung, it is found in alveolar type II cells but not in bronchiolar epithelium. {ECO 0000269|PubMed 10329428, ECO 0000269|PubMed 10610722}. # UCSC uc003grr human. [O95436-1] # eggNOG COG1283 LUCA # eggNOG ENOG410IE8P Eukaryota BLAST swissprot:NPT2B_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:NPT2B_HUMAN BioCyc ZFISH:ENSG00000157765-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000157765-MONOMER COG COG1283 http://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=COG1283 COXPRESdb 10568 http://coxpresdb.jp/data/gene/10568.shtml CleanEx HS_SLC34A2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC34A2 DOI 10.1002/gcc.10207 http://dx.doi.org/10.1002/gcc.10207 DOI 10.1006/bbrc.1999.0666 http://dx.doi.org/10.1006/bbrc.1999.0666 DOI 10.1006/geno.1999.6009 http://dx.doi.org/10.1006/geno.1999.6009 DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1086/508263 http://dx.doi.org/10.1086/508263 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AC092436 http://www.ebi.ac.uk/ena/data/view/AC092436 EMBL AF111856 http://www.ebi.ac.uk/ena/data/view/AF111856 EMBL AF146796 http://www.ebi.ac.uk/ena/data/view/AF146796 EMBL AH011306 http://www.ebi.ac.uk/ena/data/view/AH011306 EMBL AK075015 http://www.ebi.ac.uk/ena/data/view/AK075015 EMBL BC142704 http://www.ebi.ac.uk/ena/data/view/BC142704 EMBL BC146666 http://www.ebi.ac.uk/ena/data/view/BC146666 Ensembl ENST00000382051 http://www.ensembl.org/id/ENST00000382051 Ensembl ENST00000503434 http://www.ensembl.org/id/ENST00000503434 Ensembl ENST00000504570 http://www.ensembl.org/id/ENST00000504570 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0005903 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005903 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:0031526 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031526 GO_component GO:0031982 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031982 GO_function GO:0005315 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005315 GO_function GO:0005436 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005436 GO_function GO:0015321 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015321 GO_function GO:0031402 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031402 GO_function GO:0042301 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042301 GO_process GO:0001701 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001701 GO_process GO:0006817 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006817 GO_process GO:0030643 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030643 GO_process GO:0043627 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043627 GO_process GO:0044267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044267 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0009790 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009790 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GeneCards SLC34A2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC34A2 GeneID 10568 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=10568 GeneTree ENSGT00390000005032 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000005032 HGNC HGNC:11020 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11020 HOGENOM HOG000006550 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000006550&db=HOGENOM6 HOVERGEN HBG006527 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG006527&db=HOVERGEN HPA HPA037989 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA037989 InParanoid O95436 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O95436 IntAct O95436 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O95436* InterPro IPR003841 http://www.ebi.ac.uk/interpro/entry/IPR003841 InterPro IPR029852 http://www.ebi.ac.uk/interpro/entry/IPR029852 Jabion 10568 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=10568 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Disease H00014 http://www.genome.jp/dbget-bin/www_bget?H00014 KEGG_Disease H01298 http://www.genome.jp/dbget-bin/www_bget?H01298 KEGG_Gene hsa:10568 http://www.genome.jp/dbget-bin/www_bget?hsa:10568 KEGG_Orthology KO:K14683 http://www.genome.jp/dbget-bin/www_bget?KO:K14683 MIM 265100 http://www.ncbi.nlm.nih.gov/omim/265100 MIM 604217 http://www.ncbi.nlm.nih.gov/omim/604217 OMA KTECTAL http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=KTECTAL Orphanet 60025 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=60025 OrthoDB EOG091G0DR5 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0DR5 PANTHER PTHR10010:SF23 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10010:SF23 PSORT swissprot:NPT2B_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:NPT2B_HUMAN PSORT-B swissprot:NPT2B_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:NPT2B_HUMAN PSORT2 swissprot:NPT2B_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:NPT2B_HUMAN Pfam PF02690 http://pfam.xfam.org/family/PF02690 PharmGKB PA35888 http://www.pharmgkb.org/do/serve?objId=PA35888&objCls=Gene Phobius swissprot:NPT2B_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:NPT2B_HUMAN PhylomeDB O95436 http://phylomedb.org/?seqid=O95436 ProteinModelPortal O95436 http://www.proteinmodelportal.org/query/uniprot/O95436 PubMed 10329428 http://www.ncbi.nlm.nih.gov/pubmed/10329428 PubMed 10610722 http://www.ncbi.nlm.nih.gov/pubmed/10610722 PubMed 11171583 http://www.ncbi.nlm.nih.gov/pubmed/11171583 PubMed 12661006 http://www.ncbi.nlm.nih.gov/pubmed/12661006 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 PubMed 16960801 http://www.ncbi.nlm.nih.gov/pubmed/16960801 Reactome R-HSA-427589 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-427589 Reactome R-HSA-5683826 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5683826 RefSeq NP_001171469 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001171469 RefSeq NP_001171470 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001171470 RefSeq NP_006415 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_006415 STRING 9606.ENSP00000371483 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000371483&targetmode=cogs STRING COG1283 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=COG1283&targetmode=cogs TCDB 2.A.58.1 http://www.tcdb.org/search/result.php?tc=2.A.58.1 TIGRFAMs TIGR01013 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01013 UCSC uc003grr http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003grr&org=rat UniGene Hs.479372 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.479372 UniProtKB NPT2B_HUMAN http://www.uniprot.org/uniprot/NPT2B_HUMAN UniProtKB-AC O95436 http://www.uniprot.org/uniprot/O95436 charge swissprot:NPT2B_HUMAN http://rest.g-language.org/emboss/charge/swissprot:NPT2B_HUMAN eggNOG COG1283 http://eggnogapi.embl.de/nog_data/html/tree/COG1283 eggNOG ENOG410IE8P http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IE8P epestfind swissprot:NPT2B_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:NPT2B_HUMAN garnier swissprot:NPT2B_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:NPT2B_HUMAN helixturnhelix swissprot:NPT2B_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:NPT2B_HUMAN hmoment swissprot:NPT2B_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:NPT2B_HUMAN iep swissprot:NPT2B_HUMAN http://rest.g-language.org/emboss/iep/swissprot:NPT2B_HUMAN inforesidue swissprot:NPT2B_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:NPT2B_HUMAN neXtProt NX_O95436 http://www.nextprot.org/db/entry/NX_O95436 octanol swissprot:NPT2B_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:NPT2B_HUMAN pepcoil swissprot:NPT2B_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:NPT2B_HUMAN pepdigest swissprot:NPT2B_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:NPT2B_HUMAN pepinfo swissprot:NPT2B_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:NPT2B_HUMAN pepnet swissprot:NPT2B_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:NPT2B_HUMAN pepstats swissprot:NPT2B_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:NPT2B_HUMAN pepwheel swissprot:NPT2B_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:NPT2B_HUMAN pepwindow swissprot:NPT2B_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:NPT2B_HUMAN sigcleave swissprot:NPT2B_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:NPT2B_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS IMB1_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q14974-1; Sequence=Displayed; Name=2; IsoId=Q14974-2; Sequence=VSP_054612; Note=No experimental confirmation available.; # AltName IMB1_HUMAN Importin-90 # AltName IMB1_HUMAN Karyopherin subunit beta-1 # AltName IMB1_HUMAN Nuclear factor p97 # AltName IMB1_HUMAN Pore targeting complex 97 kDa subunit # BioGrid 110035 242 # CCDS CCDS11513 -. [Q14974-1] # CCDS CCDS62228 -. [Q14974-2] # ChiTaRS KPNB1 human # Ensembl ENST00000290158 ENSP00000290158; ENSG00000108424. [Q14974-1] # Ensembl ENST00000535458 ENSP00000438253; ENSG00000108424. [Q14974-2] # Ensembl ENST00000540627 ENSP00000438964; ENSG00000108424. [Q14974-2] # ExpressionAtlas Q14974 baseline and differential # FUNCTION IMB1_HUMAN Functions in nuclear protein import, either in association with an adapter protein, like an importin-alpha subunit, which binds to nuclear localization signals (NLS) in cargo substrates, or by acting as autonomous nuclear transport receptor. Acting autonomously, serves itself as NLS receptor. Docking of the importin/substrate complex to the nuclear pore complex (NPC) is mediated by KPNB1 through binding to nucleoporin FxFG repeats and the complex is subsequently translocated through the pore by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to importin-beta and the three components separate and importin-alpha and -beta are re- exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran from importin. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. Mediates autonomously the nuclear import of ribosomal proteins RPL23A, RPS7 and RPL5. Binds to a beta-like import receptor binding (BIB) domain of RPL23A. In association with IPO7 mediates the nuclear import of H1 histone. In vitro, mediates nuclear import of H2A, H2B, H3 and H4 histones. In case of HIV-1 infection, binds and mediates the nuclear import of HIV-1 Rev. Imports SNAI1 and PRKCI into the nucleus. {ECO 0000269|PubMed 10228156, ECO 0000269|PubMed 11891849, ECO 0000269|PubMed 19386897, ECO 0000269|PubMed 24699649, ECO 0000269|PubMed 9687515}. # GO_component GO:0005635 nuclear envelope; IDA:UniProtKB. # GO_component GO:0005643 nuclear pore; TAS:ProtInc. # GO_component GO:0005654 nucleoplasm; IDA:HPA. # GO_component GO:0005737 cytoplasm; IDA:HPA. # GO_component GO:0005829 cytosol; TAS:Reactome. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0031965 nuclear membrane; IDA:HPA. # GO_component GO:0034399 nuclear periphery; IBA:GO_Central. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_component GO:0071782 endoplasmic reticulum tubular network; IDA:UniProtKB. # GO_function GO:0008139 nuclear localization sequence binding; TAS:ProtInc. # GO_function GO:0008270 zinc ion binding; TAS:ProtInc. # GO_function GO:0008565 protein transporter activity; IBA:GO_Central. # GO_function GO:0019899 enzyme binding; IPI:UniProtKB. # GO_function GO:0019904 protein domain specific binding; IPI:UniProtKB. # GO_function GO:0044822 poly(A) RNA binding; IDA:UniProtKB. # GO_process GO:0000059 protein import into nucleus, docking; IBA:GO_Central. # GO_process GO:0000060 protein import into nucleus, translocation; TAS:ProtInc. # GO_process GO:0006309 apoptotic DNA fragmentation; TAS:Reactome. # GO_process GO:0006606 protein import into nucleus; IDA:MGI. # GO_process GO:0006607 NLS-bearing protein import into nucleus; TAS:ProtInc. # GO_process GO:0006610 ribosomal protein import into nucleus; IDA:UniProtKB. # GO_process GO:0007079 mitotic chromosome movement towards spindle pole; IMP:UniProtKB. # GO_process GO:0007080 mitotic metaphase plate congression; IMP:UniProtKB. # GO_process GO:0019054 modulation by virus of host process; TAS:Reactome. # GO_process GO:0030953 astral microtubule organization; IMP:UniProtKB. # GO_process GO:0031291 Ran protein signal transduction; IMP:UniProtKB. # GO_process GO:0040001 establishment of mitotic spindle localization; IMP:UniProtKB. # GO_process GO:0045184 establishment of protein localization; IMP:UniProtKB. # GO_process GO:0075733 intracellular transport of virus; TAS:Reactome. # GO_process GO:0090307 mitotic spindle assembly; IMP:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005635 nuclear envelope # GOslim_component GO:0005654 nucleoplasm # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005829 cytosol # GOslim_component GO:0043226 organelle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0003723 RNA binding # GOslim_function GO:0008565 protein transporter activity # GOslim_function GO:0019899 enzyme binding # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006259 DNA metabolic process # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # GOslim_process GO:0006913 nucleocytoplasmic transport # GOslim_process GO:0007010 cytoskeleton organization # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0022607 cellular component assembly # GOslim_process GO:0034655 nucleobase-containing compound catabolic process # GOslim_process GO:0044403 symbiosis, encompassing mutualism through parasitism # Gene3D 1.25.10.10 -; 1. # Genevisible Q14974 HS # HGNC HGNC:6400 KPNB1 # INTERACTION IMB1_HUMAN Q9WMX2 - (xeno); NbExp=2; IntAct=EBI-286758, EBI-710918; P04626 ERBB2; NbExp=14; IntAct=EBI-286758, EBI-641062; P03101 L1 (xeno); NbExp=2; IntAct=EBI-286758, EBI-7362698; P03107 L2 (xeno); NbExp=2; IntAct=EBI-286758, EBI-7362531; Q8K4J6 Mkl1 (xeno); NbExp=5; IntAct=EBI-286758, EBI-8291665; P14907 NSP1 (xeno); NbExp=2; IntAct=EBI-286758, EBI-12265; P49790 NUP153; NbExp=3; IntAct=EBI-286758, EBI-286779; P04620 rev (xeno); NbExp=3; IntAct=EBI-286758, EBI-10687101; Q16637-3 SMN2; NbExp=5; IntAct=EBI-286758, EBI-395447; O75940 SMNDC1; NbExp=2; IntAct=EBI-286758, EBI-1052641; # IntAct Q14974 146 # InterPro IPR000225 Armadillo # InterPro IPR001494 Importin-beta_N # InterPro IPR011989 ARM-like # InterPro IPR016024 ARM-type_fold # InterPro IPR021133 HEAT_type_2 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko03036 Chromosome # KEGG_Pathway ko03013 RNA transport # MIM 602738 gene # Organism IMB1_HUMAN Homo sapiens (Human) # PDB 1F59 X-ray; 2.80 A; A/B=1-442 # PDB 1IBR X-ray; 2.30 A; B/D=1-462 # PDB 1M5N X-ray; 2.90 A; S=1-485 # PDB 1O6O X-ray; 2.80 A; A/B/C=1-442 # PDB 1O6P X-ray; 2.80 A; A/B=1-442 # PDB 1QGK X-ray; 2.50 A; A=1-876 # PDB 1QGR X-ray; 2.30 A; A=1-876 # PDB 2P8Q X-ray; 2.35 A; A=1-876 # PDB 2Q5D X-ray; 3.20 A; A/B=1-876 # PDB 2QNA X-ray; 2.84 A; A=127-875 # PDB 3LWW X-ray; 3.15 A; A/C=1-876 # PDB 3W5K X-ray; 2.60 A; A=1-876 # PIR I52907 I52907 # PROSITE PS50077 HEAT_REPEAT # PROSITE PS50166 IMPORTIN_B_NT # PTM IMB1_HUMAN Mono-ADP-ribosylated by PARP16. # Pfam PF03810 IBN_N # Proteomes UP000005640 Chromosome 17 # Reactome R-HSA-1169408 ISG15 antiviral mechanism # Reactome R-HSA-1655829 Regulation of cholesterol biosynthesis by SREBP (SREBF) # Reactome R-HSA-168271 Transport of Ribonucleoproteins into the Host Nucleus # Reactome R-HSA-168276 NS1 Mediated Effects on Host Pathways # Reactome R-HSA-180746 Nuclear import of Rev protein # Reactome R-HSA-211227 Activation of DNA fragmentation factor # Reactome R-HSA-6798695 Neutrophil degranulation # RecName IMB1_HUMAN Importin subunit beta-1 # RefSeq NP_001263382 NM_001276453.1. [Q14974-2] # RefSeq NP_002256 NM_002265.5. [Q14974-1] # SIMILARITY Belongs to the importin beta family. Importin beta-1 subfamily. {ECO 0000305}. # SIMILARITY Contains 1 importin N-terminal domain. {ECO:0000255|PROSITE-ProRule PRU00115}. # SIMILARITY Contains 19 HEAT repeats. {ECO:0000269|PubMed 10353244}. # SMART SM00185 ARM; 3 # SMART SM00913 IBN_N # SUBCELLULAR LOCATION IMB1_HUMAN Cytoplasm {ECO 0000269|PubMed 11891849}. Nucleus envelope {ECO 0000269|PubMed 11891849}. # SUBUNIT IMB1_HUMAN Forms a complex with an importin alpha subunit. Forms a heterodimer with IPO7. Interacts with IPO7, SNUPN, RPL23A and XPO1. The KPNB1/IPO7 heterodimer interacts with H1 histone. Interacts with H2A, H2B, H3 and H4 histones (By similarity). Component of an import snRNP complex composed of KPNB1, SNUPN, SMN1 and ZNF259. Component of a nuclear export receptor complex composed of KPNB1, Ran, SNUPN and XPO1. Binds to HIV-1 Rev and Tat. Interacts with HTLV-1 Rex. Interacts with SRY. Interacts with PRKCI/atypical protein kinase C iota. Interacts with human respiratory syncytial virus (HRSV) protein M. Interacts with KPNA7. Interacts with SNAI1 (via zinc fingers) and SNAI2 (via zinc fingers). Interacts with SLC35G1 and STIM1. Interacts with DCAF8. Interacts with RAN (By similarity). {ECO 0000250|UniProtKB P70168, ECO 0000269|PubMed 10209022, ECO 0000269|PubMed 10228156, ECO 0000269|PubMed 11891849, ECO 0000269|PubMed 12095920, ECO 0000269|PubMed 12764225, ECO 0000269|PubMed 15297880, ECO 0000269|PubMed 15629770, ECO 0000269|PubMed 15836774, ECO 0000269|PubMed 16171404, ECO 0000269|PubMed 16704975, ECO 0000269|PubMed 19386897, ECO 0000269|PubMed 20701745, ECO 0000269|PubMed 22084111, ECO 0000269|PubMed 22500989, ECO 0000269|PubMed 22701565, ECO 0000269|PubMed 24699649, ECO 0000269|PubMed 8617227, ECO 0000269|PubMed 9405152, ECO 0000269|PubMed 9670026, ECO 0000269|PubMed 9687515, ECO 0000269|PubMed 9891055, ECO 0000269|PubMed 9891056}. # SUPFAM SSF48371 SSF48371 # TCDB 1.I.1.1 the nuclear pore complex (npc) family # TopDownProteomics Q14974-1 -. [Q14974-1] # UCSC uc002ilt human. [Q14974-1] # eggNOG COG5215 LUCA # eggNOG KOG1241 Eukaryota BLAST swissprot:IMB1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:IMB1_HUMAN BioCyc ZFISH:ENSG00000108424-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000108424-MONOMER COXPRESdb 3837 http://coxpresdb.jp/data/gene/3837.shtml CleanEx HS_KPNB1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KPNB1 DIP DIP-6204N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-6204N DOI 10.1002/jcb.10101.abs http://dx.doi.org/10.1002/jcb.10101.abs DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1006/jmbi.1997.1420 http://dx.doi.org/10.1006/jmbi.1997.1420 DOI 10.1016/S0092-8674(00)00014-3 http://dx.doi.org/10.1016/S0092-8674(00)00014-3 DOI 10.1016/S0092-8674(00)80774-6 http://dx.doi.org/10.1016/S0092-8674(00)80774-6 DOI 10.1016/S0960-9822(95)00079-0 http://dx.doi.org/10.1016/S0960-9822(95)00079-0 DOI 10.1016/S1097-2765(02)00727-X http://dx.doi.org/10.1016/S1097-2765(02)00727-X DOI 10.1016/j.febslet.2012.02.053 http://dx.doi.org/10.1016/j.febslet.2012.02.053 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1016/j.molcel.2008.07.007 http://dx.doi.org/10.1016/j.molcel.2008.07.007 DOI 10.1016/j.virol.2004.10.031 http://dx.doi.org/10.1016/j.virol.2004.10.031 DOI 10.1021/ac9004309 http://dx.doi.org/10.1021/ac9004309 DOI 10.1021/bi050701e http://dx.doi.org/10.1021/bi050701e DOI 10.1021/bi100292y http://dx.doi.org/10.1021/bi100292y DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/20367 http://dx.doi.org/10.1038/20367 DOI 10.1038/nature04689 http://dx.doi.org/10.1038/nature04689 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1038/sj.emboj.7600352 http://dx.doi.org/10.1038/sj.emboj.7600352 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1073/pnas.1117231108 http://dx.doi.org/10.1073/pnas.1117231108 DOI 10.1073/pnas.1137864100 http://dx.doi.org/10.1073/pnas.1137864100 DOI 10.1073/pnas.1210303109 http://dx.doi.org/10.1073/pnas.1210303109 DOI 10.1073/pnas.93.14.7059 http://dx.doi.org/10.1073/pnas.93.14.7059 DOI 10.1074/jbc.M602189200 http://dx.doi.org/10.1074/jbc.M602189200 DOI 10.1074/jbc.M709093200 http://dx.doi.org/10.1074/jbc.M709093200 DOI 10.1074/mcp.M111.015131 http://dx.doi.org/10.1074/mcp.M111.015131 DOI 10.1083/jcb.130.2.265 http://dx.doi.org/10.1083/jcb.130.2.265 DOI 10.1083/jcb.145.2.255 http://dx.doi.org/10.1083/jcb.145.2.255 DOI 10.1093/emboj/17.14.4114 http://dx.doi.org/10.1093/emboj/17.14.4114 DOI 10.1093/emboj/17.15.4491 http://dx.doi.org/10.1093/emboj/17.15.4491 DOI 10.1093/emboj/18.9.2411 http://dx.doi.org/10.1093/emboj/18.9.2411 DOI 10.1093/hmg/11.15.1785 http://dx.doi.org/10.1093/hmg/11.15.1785 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1107/S1399004714000972 http://dx.doi.org/10.1107/S1399004714000972 DOI 10.1111/j.1365-2443.2005.00850.x http://dx.doi.org/10.1111/j.1365-2443.2005.00850.x DOI 10.1126/science.1175371 http://dx.doi.org/10.1126/science.1175371 DOI 10.1128/MCB.19.2.1210 http://dx.doi.org/10.1128/MCB.19.2.1210 DOI 10.1128/MCB.19.2.1218 http://dx.doi.org/10.1128/MCB.19.2.1218 DOI 10.1186/1471-2121-11-63 http://dx.doi.org/10.1186/1471-2121-11-63 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DOI 10.1242/jcs.041749 http://dx.doi.org/10.1242/jcs.041749 DOI 10.1371/journal.pone.0037352 http://dx.doi.org/10.1371/journal.pone.0037352 EMBL AC015674 http://www.ebi.ac.uk/ena/data/view/AC015674 EMBL AC025682 http://www.ebi.ac.uk/ena/data/view/AC025682 EMBL AK316421 http://www.ebi.ac.uk/ena/data/view/AK316421 EMBL BC003572 http://www.ebi.ac.uk/ena/data/view/BC003572 EMBL BC024045 http://www.ebi.ac.uk/ena/data/view/BC024045 EMBL BC036703 http://www.ebi.ac.uk/ena/data/view/BC036703 EMBL BT009797 http://www.ebi.ac.uk/ena/data/view/BT009797 EMBL CH471109 http://www.ebi.ac.uk/ena/data/view/CH471109 EMBL CH471109 http://www.ebi.ac.uk/ena/data/view/CH471109 EMBL CH471109 http://www.ebi.ac.uk/ena/data/view/CH471109 EMBL L38951 http://www.ebi.ac.uk/ena/data/view/L38951 EMBL L39793 http://www.ebi.ac.uk/ena/data/view/L39793 Ensembl ENST00000290158 http://www.ensembl.org/id/ENST00000290158 Ensembl ENST00000535458 http://www.ensembl.org/id/ENST00000535458 Ensembl ENST00000540627 http://www.ensembl.org/id/ENST00000540627 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005635 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005635 GO_component GO:0005643 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005643 GO_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0031965 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031965 GO_component GO:0034399 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034399 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_component GO:0071782 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071782 GO_function GO:0008139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008139 GO_function GO:0008270 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008270 GO_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GO_function GO:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GO_function GO:0019904 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019904 GO_function GO:0044822 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044822 GO_process GO:0000059 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000059 GO_process GO:0000060 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000060 GO_process GO:0006309 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006309 GO_process GO:0006606 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006606 GO_process GO:0006607 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006607 GO_process GO:0006610 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006610 GO_process GO:0007079 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007079 GO_process GO:0007080 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007080 GO_process GO:0019054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019054 GO_process GO:0030953 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030953 GO_process GO:0031291 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031291 GO_process GO:0040001 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0040001 GO_process GO:0045184 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045184 GO_process GO:0075733 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0075733 GO_process GO:0090307 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090307 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005635 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005635 GOslim_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0003723 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003723 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_function GO:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006259 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006259 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006913 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006913 GOslim_process GO:0007010 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007010 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0022607 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022607 GOslim_process GO:0034655 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034655 GOslim_process GO:0044403 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044403 Gene3D 1.25.10.10 http://www.cathdb.info/version/latest/superfamily/1.25.10.10 GeneCards KPNB1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KPNB1 GeneID 3837 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=3837 GeneTree ENSGT00550000074898 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074898 HGNC HGNC:6400 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6400 HOGENOM HOG000204108 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000204108&db=HOGENOM6 HOVERGEN HBG002369 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG002369&db=HOVERGEN HPA CAB034449 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB034449 HPA HPA029878 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA029878 HPA HPA050302 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA050302 InParanoid Q14974 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q14974 IntAct Q14974 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q14974* InterPro IPR000225 http://www.ebi.ac.uk/interpro/entry/IPR000225 InterPro IPR001494 http://www.ebi.ac.uk/interpro/entry/IPR001494 InterPro IPR011989 http://www.ebi.ac.uk/interpro/entry/IPR011989 InterPro IPR016024 http://www.ebi.ac.uk/interpro/entry/IPR016024 InterPro IPR021133 http://www.ebi.ac.uk/interpro/entry/IPR021133 Jabion 3837 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=3837 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko03036 http://www.genome.jp/dbget-bin/www_bget?ko03036 KEGG_Gene hsa:3837 http://www.genome.jp/dbget-bin/www_bget?hsa:3837 KEGG_Orthology KO:K14293 http://www.genome.jp/dbget-bin/www_bget?KO:K14293 KEGG_Pathway ko03013 http://www.genome.jp/kegg-bin/show_pathway?ko03013 MIM 602738 http://www.ncbi.nlm.nih.gov/omim/602738 MINT MINT-94095 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-94095 OMA MSNILPY http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=MSNILPY OrthoDB EOG091G01XQ http://cegg.unige.ch/orthodb/results?searchtext=EOG091G01XQ PDB 1F59 http://www.ebi.ac.uk/pdbe-srv/view/entry/1F59 PDB 1IBR http://www.ebi.ac.uk/pdbe-srv/view/entry/1IBR PDB 1M5N http://www.ebi.ac.uk/pdbe-srv/view/entry/1M5N PDB 1O6O http://www.ebi.ac.uk/pdbe-srv/view/entry/1O6O PDB 1O6P http://www.ebi.ac.uk/pdbe-srv/view/entry/1O6P PDB 1QGK http://www.ebi.ac.uk/pdbe-srv/view/entry/1QGK PDB 1QGR http://www.ebi.ac.uk/pdbe-srv/view/entry/1QGR PDB 2P8Q http://www.ebi.ac.uk/pdbe-srv/view/entry/2P8Q PDB 2Q5D http://www.ebi.ac.uk/pdbe-srv/view/entry/2Q5D PDB 2QNA http://www.ebi.ac.uk/pdbe-srv/view/entry/2QNA PDB 3LWW http://www.ebi.ac.uk/pdbe-srv/view/entry/3LWW PDB 3W5K http://www.ebi.ac.uk/pdbe-srv/view/entry/3W5K PDBsum 1F59 http://www.ebi.ac.uk/pdbsum/1F59 PDBsum 1IBR http://www.ebi.ac.uk/pdbsum/1IBR PDBsum 1M5N http://www.ebi.ac.uk/pdbsum/1M5N PDBsum 1O6O http://www.ebi.ac.uk/pdbsum/1O6O PDBsum 1O6P http://www.ebi.ac.uk/pdbsum/1O6P PDBsum 1QGK http://www.ebi.ac.uk/pdbsum/1QGK PDBsum 1QGR http://www.ebi.ac.uk/pdbsum/1QGR PDBsum 2P8Q http://www.ebi.ac.uk/pdbsum/2P8Q PDBsum 2Q5D http://www.ebi.ac.uk/pdbsum/2Q5D PDBsum 2QNA http://www.ebi.ac.uk/pdbsum/2QNA PDBsum 3LWW http://www.ebi.ac.uk/pdbsum/3LWW PDBsum 3W5K http://www.ebi.ac.uk/pdbsum/3W5K PROSITE PS50077 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50077 PROSITE PS50166 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50166 PSORT swissprot:IMB1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:IMB1_HUMAN PSORT-B swissprot:IMB1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:IMB1_HUMAN PSORT2 swissprot:IMB1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:IMB1_HUMAN Pfam PF03810 http://pfam.xfam.org/family/PF03810 PharmGKB PA30191 http://www.pharmgkb.org/do/serve?objId=PA30191&objCls=Gene Phobius swissprot:IMB1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:IMB1_HUMAN PhylomeDB Q14974 http://phylomedb.org/?seqid=Q14974 ProteinModelPortal Q14974 http://www.proteinmodelportal.org/query/uniprot/Q14974 PubMed 10209022 http://www.ncbi.nlm.nih.gov/pubmed/10209022 PubMed 10228156 http://www.ncbi.nlm.nih.gov/pubmed/10228156 PubMed 10353244 http://www.ncbi.nlm.nih.gov/pubmed/10353244 PubMed 10367892 http://www.ncbi.nlm.nih.gov/pubmed/10367892 PubMed 10929717 http://www.ncbi.nlm.nih.gov/pubmed/10929717 PubMed 11891849 http://www.ncbi.nlm.nih.gov/pubmed/11891849 PubMed 12095920 http://www.ncbi.nlm.nih.gov/pubmed/12095920 PubMed 12504010 http://www.ncbi.nlm.nih.gov/pubmed/12504010 PubMed 12764225 http://www.ncbi.nlm.nih.gov/pubmed/12764225 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15297880 http://www.ncbi.nlm.nih.gov/pubmed/15297880 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15629770 http://www.ncbi.nlm.nih.gov/pubmed/15629770 PubMed 15836774 http://www.ncbi.nlm.nih.gov/pubmed/15836774 PubMed 16171404 http://www.ncbi.nlm.nih.gov/pubmed/16171404 PubMed 16625196 http://www.ncbi.nlm.nih.gov/pubmed/16625196 PubMed 16704975 http://www.ncbi.nlm.nih.gov/pubmed/16704975 PubMed 18187419 http://www.ncbi.nlm.nih.gov/pubmed/18187419 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 18691976 http://www.ncbi.nlm.nih.gov/pubmed/18691976 PubMed 19386897 http://www.ncbi.nlm.nih.gov/pubmed/19386897 PubMed 19413330 http://www.ncbi.nlm.nih.gov/pubmed/19413330 PubMed 19608861 http://www.ncbi.nlm.nih.gov/pubmed/19608861 PubMed 20476751 http://www.ncbi.nlm.nih.gov/pubmed/20476751 PubMed 20701745 http://www.ncbi.nlm.nih.gov/pubmed/20701745 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 22084111 http://www.ncbi.nlm.nih.gov/pubmed/22084111 PubMed 22223895 http://www.ncbi.nlm.nih.gov/pubmed/22223895 PubMed 22500989 http://www.ncbi.nlm.nih.gov/pubmed/22500989 PubMed 22701565 http://www.ncbi.nlm.nih.gov/pubmed/22701565 PubMed 22814378 http://www.ncbi.nlm.nih.gov/pubmed/22814378 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 24699649 http://www.ncbi.nlm.nih.gov/pubmed/24699649 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 7615630 http://www.ncbi.nlm.nih.gov/pubmed/7615630 PubMed 7627554 http://www.ncbi.nlm.nih.gov/pubmed/7627554 PubMed 8617227 http://www.ncbi.nlm.nih.gov/pubmed/8617227 PubMed 8692944 http://www.ncbi.nlm.nih.gov/pubmed/8692944 PubMed 9405152 http://www.ncbi.nlm.nih.gov/pubmed/9405152 PubMed 9670026 http://www.ncbi.nlm.nih.gov/pubmed/9670026 PubMed 9687515 http://www.ncbi.nlm.nih.gov/pubmed/9687515 PubMed 9891055 http://www.ncbi.nlm.nih.gov/pubmed/9891055 PubMed 9891056 http://www.ncbi.nlm.nih.gov/pubmed/9891056 Reactome R-HSA-1169408 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1169408 Reactome R-HSA-1655829 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1655829 Reactome R-HSA-168271 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-168271 Reactome R-HSA-168276 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-168276 Reactome R-HSA-180746 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-180746 Reactome R-HSA-211227 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-211227 Reactome R-HSA-6798695 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6798695 RefSeq NP_001263382 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001263382 RefSeq NP_002256 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_002256 SMART SM00185 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00185 SMART SM00913 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00913 SMR Q14974 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q14974 STRING 9606.ENSP00000290158 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000290158&targetmode=cogs SUPFAM SSF48371 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48371 TCDB 1.I.1.1 http://www.tcdb.org/search/result.php?tc=1.I.1.1 UCSC uc002ilt http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002ilt&org=rat UniGene Hs.532793 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.532793 UniProtKB IMB1_HUMAN http://www.uniprot.org/uniprot/IMB1_HUMAN UniProtKB-AC Q14974 http://www.uniprot.org/uniprot/Q14974 charge swissprot:IMB1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:IMB1_HUMAN eggNOG COG5215 http://eggnogapi.embl.de/nog_data/html/tree/COG5215 eggNOG KOG1241 http://eggnogapi.embl.de/nog_data/html/tree/KOG1241 epestfind swissprot:IMB1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:IMB1_HUMAN garnier swissprot:IMB1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:IMB1_HUMAN helixturnhelix swissprot:IMB1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:IMB1_HUMAN hmoment swissprot:IMB1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:IMB1_HUMAN iep swissprot:IMB1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:IMB1_HUMAN inforesidue swissprot:IMB1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:IMB1_HUMAN neXtProt NX_Q14974 http://www.nextprot.org/db/entry/NX_Q14974 octanol swissprot:IMB1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:IMB1_HUMAN pepcoil swissprot:IMB1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:IMB1_HUMAN pepdigest swissprot:IMB1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:IMB1_HUMAN pepinfo swissprot:IMB1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:IMB1_HUMAN pepnet swissprot:IMB1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:IMB1_HUMAN pepstats swissprot:IMB1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:IMB1_HUMAN pepwheel swissprot:IMB1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:IMB1_HUMAN pepwindow swissprot:IMB1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:IMB1_HUMAN sigcleave swissprot:IMB1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:IMB1_HUMAN ## Database ID URL or Descriptions # AltName KCNJ9_HUMAN Inward rectifier K(+) channel Kir3.3 # AltName KCNJ9_HUMAN Potassium channel, inwardly rectifying subfamily J member 9 # BioGrid 109967 2 # DOMAIN KCNJ9_HUMAN The PDZ-binding motif specifically binds the PDZ domain of SNX27 the specificity for SNX27 is provided by the 2 residues located upstream (Glu-388 and Ser-389) of the PDZ-binding motif. {ECO 0000250}. # DrugBank DB00898 Ethanol # Ensembl ENST00000368088 ENSP00000357067; ENSG00000162728 # FUNCTION KCNJ9_HUMAN This receptor is controlled by G proteins. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium (By similarity). {ECO 0000250}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_function GO:0005242 inward rectifier potassium channel activity; IBA:GO_Central. # GO_function GO:0015467 G-protein activated inward rectifier potassium channel activity; TAS:Reactome. # GO_process GO:0010107 potassium ion import; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0055085 transmembrane transport # Gene3D 2.60.40.1400 -; 1. # Genevisible Q92806 HS # HGNC HGNC:6270 KCNJ9 # InterPro IPR003276 K_chnl_inward-rec_Kir3.3 # InterPro IPR013518 K_chnl_inward-rec_Kir_cyto # InterPro IPR014756 Ig_E-set # InterPro IPR016449 K_chnl_inward-rec_Kir # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04713 Circadian entrainment # KEGG_Pathway ko04723 Retrograde endocannabinoid signaling # KEGG_Pathway ko04726 Serotonergic synapse # KEGG_Pathway ko04728 Dopaminergic synapse # KEGG_Pathway ko05032 Morphine addiction # MIM 600932 gene # Organism KCNJ9_HUMAN Homo sapiens (Human) # PANTHER PTHR11767 PTHR11767 # PANTHER PTHR11767:SF17 PTHR11767:SF17 # PIRSF PIRSF005465 GIRK_kir # PRINTS PR01320 KIRCHANNEL # PRINTS PR01329 KIR33CHANNEL # Pfam PF01007 IRK # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-1296041 Activation of G protein gated Potassium channels # Reactome R-HSA-997272 Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits # RecName KCNJ9_HUMAN G protein-activated inward rectifier potassium channel 3 # RefSeq NP_004974 NM_004983.2 # SIMILARITY Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ9 subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION KCNJ9_HUMAN Membrane; Multi-pass membrane protein. # SUBUNIT Associates with GIRK1 to form a G-protein-activated heteromultimer pore-forming unit. Interacts (via PDZ-binding motif) with SNX27 (via PDZ domain); the interaction is required when endocytosed to prevent degradation in lysosomes and promote recycling to the plasma membrane (By similarity). {ECO 0000250}. # SUPFAM SSF81296 SSF81296 # UCSC uc001fuy human # eggNOG ENOG410XQ62 LUCA # eggNOG KOG3827 Eukaryota BLAST swissprot:KCNJ9_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCNJ9_HUMAN BioCyc ZFISH:ENSG00000162728-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000162728-MONOMER COXPRESdb 3765 http://coxpresdb.jp/data/gene/3765.shtml CleanEx HS_KCNJ9 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNJ9 DOI 10.1006/bbrc.2000.3136 http://dx.doi.org/10.1006/bbrc.2000.3136 DOI 10.1016/S0898-6568(99)00059-5 http://dx.doi.org/10.1016/S0898-6568(99)00059-5 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DrugBank DB00898 http://www.drugbank.ca/drugs/DB00898 EMBL AF193615 http://www.ebi.ac.uk/ena/data/view/AF193615 EMBL AL121987 http://www.ebi.ac.uk/ena/data/view/AL121987 EMBL U52152 http://www.ebi.ac.uk/ena/data/view/U52152 Ensembl ENST00000368088 http://www.ensembl.org/id/ENST00000368088 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0005242 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005242 GO_function GO:0015467 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015467 GO_process GO:0010107 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010107 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 2.60.40.1400 http://www.cathdb.info/version/latest/superfamily/2.60.40.1400 GeneCards KCNJ9 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNJ9 GeneID 3765 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=3765 GeneTree ENSGT00760000118842 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118842 H-InvDB HIX0028866 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0028866 HGNC HGNC:6270 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6270 HOGENOM HOG000237325 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000237325&db=HOGENOM6 HOVERGEN HBG006178 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG006178&db=HOVERGEN InParanoid Q92806 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q92806 InterPro IPR003276 http://www.ebi.ac.uk/interpro/entry/IPR003276 InterPro IPR013518 http://www.ebi.ac.uk/interpro/entry/IPR013518 InterPro IPR014756 http://www.ebi.ac.uk/interpro/entry/IPR014756 InterPro IPR016449 http://www.ebi.ac.uk/interpro/entry/IPR016449 Jabion 3765 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=3765 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:3765 http://www.genome.jp/dbget-bin/www_bget?hsa:3765 KEGG_Orthology KO:K05002 http://www.genome.jp/dbget-bin/www_bget?KO:K05002 KEGG_Pathway ko04713 http://www.genome.jp/kegg-bin/show_pathway?ko04713 KEGG_Pathway ko04723 http://www.genome.jp/kegg-bin/show_pathway?ko04723 KEGG_Pathway ko04726 http://www.genome.jp/kegg-bin/show_pathway?ko04726 KEGG_Pathway ko04728 http://www.genome.jp/kegg-bin/show_pathway?ko04728 KEGG_Pathway ko05032 http://www.genome.jp/kegg-bin/show_pathway?ko05032 MIM 600932 http://www.ncbi.nlm.nih.gov/omim/600932 OMA HLYWSIS http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=HLYWSIS OrthoDB EOG091G08HC http://cegg.unige.ch/orthodb/results?searchtext=EOG091G08HC PANTHER PTHR11767 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11767 PANTHER PTHR11767:SF17 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11767:SF17 PRINTS PR01320 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01320 PRINTS PR01329 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01329 PSORT swissprot:KCNJ9_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCNJ9_HUMAN PSORT-B swissprot:KCNJ9_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCNJ9_HUMAN PSORT2 swissprot:KCNJ9_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCNJ9_HUMAN Pfam PF01007 http://pfam.xfam.org/family/PF01007 PharmGKB PA30051 http://www.pharmgkb.org/do/serve?objId=PA30051&objCls=Gene Phobius swissprot:KCNJ9_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCNJ9_HUMAN PhylomeDB Q92806 http://phylomedb.org/?seqid=Q92806 ProteinModelPortal Q92806 http://www.proteinmodelportal.org/query/uniprot/Q92806 PubMed 10659995 http://www.ncbi.nlm.nih.gov/pubmed/10659995 PubMed 10913335 http://www.ncbi.nlm.nih.gov/pubmed/10913335 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 Reactome R-HSA-1296041 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1296041 Reactome R-HSA-997272 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-997272 RefSeq NP_004974 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004974 SMR Q92806 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q92806 STRING 9606.ENSP00000357067 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000357067&targetmode=cogs SUPFAM SSF81296 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81296 UCSC uc001fuy http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001fuy&org=rat UniGene Hs.66726 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.66726 UniProtKB KCNJ9_HUMAN http://www.uniprot.org/uniprot/KCNJ9_HUMAN UniProtKB-AC Q92806 http://www.uniprot.org/uniprot/Q92806 charge swissprot:KCNJ9_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCNJ9_HUMAN eggNOG ENOG410XQ62 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XQ62 eggNOG KOG3827 http://eggnogapi.embl.de/nog_data/html/tree/KOG3827 epestfind swissprot:KCNJ9_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCNJ9_HUMAN garnier swissprot:KCNJ9_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCNJ9_HUMAN helixturnhelix swissprot:KCNJ9_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCNJ9_HUMAN hmoment swissprot:KCNJ9_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCNJ9_HUMAN iep swissprot:KCNJ9_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCNJ9_HUMAN inforesidue swissprot:KCNJ9_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCNJ9_HUMAN neXtProt NX_Q92806 http://www.nextprot.org/db/entry/NX_Q92806 octanol swissprot:KCNJ9_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCNJ9_HUMAN pepcoil swissprot:KCNJ9_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCNJ9_HUMAN pepdigest swissprot:KCNJ9_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCNJ9_HUMAN pepinfo swissprot:KCNJ9_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCNJ9_HUMAN pepnet swissprot:KCNJ9_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCNJ9_HUMAN pepstats swissprot:KCNJ9_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCNJ9_HUMAN pepwheel swissprot:KCNJ9_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCNJ9_HUMAN pepwindow swissprot:KCNJ9_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCNJ9_HUMAN sigcleave swissprot:KCNJ9_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCNJ9_HUMAN ## Database ID URL or Descriptions # AltName TFR1_HUMAN CD71 # AltName TFR1_HUMAN CD71 # AltName TFR1_HUMAN T9 # AltName TFR1_HUMAN p90 # BioGrid 112895 82 # ChiTaRS TFRC human # DISEASE TFR1_HUMAN Immunodeficiency 46 (IMD46) [MIM 616740] An autosomal recessive primary immunodeficiency disorder characterized by early-onset chronic diarrhea, recurrent infections, hypo- or agammaglobulinemia, normal lymphocyte counts, intermittent neutropenia, and intermittent thrombocytopenia. {ECO 0000269|PubMed 26642240}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DrugBank DB05260 Gallium nitrate # Ensembl ENST00000360110 ENSP00000353224; ENSG00000072274 # Ensembl ENST00000392396 ENSP00000376197; ENSG00000072274 # ExpressionAtlas P02786 baseline and differential # FUNCTION TFR1_HUMAN (Microbial infection) Acts as a receptor for new-world arenaviruses Guanarito, Junin and Machupo virus. {ECO 0000269|PubMed 17287727, ECO 0000269|PubMed 18268337}. # FUNCTION TFR1_HUMAN Cellular uptake of iron occurs via receptor-mediated endocytosis of ligand-occupied transferrin receptor into specialized endosomes. Endosomal acidification leads to iron release. The apotransferrin-receptor complex is then recycled to the cell surface with a return to neutral pH and the concomitant loss of affinity of apotransferrin for its receptor. Transferrin receptor is necessary for development of erythrocytes and the nervous system (By similarity). A second ligand, the heditary hemochromatosis protein HFE, competes for binding with transferrin for an overlapping C-terminal binding site. Positively regulates T and B cell proliferation through iron uptake (PubMed 26642240). {ECO 0000250, ECO 0000269|PubMed 26642240, ECO 0000269|PubMed 3568132}. # GO_component GO:0005576 extracellular region; IDA:UniProtKB. # GO_component GO:0005615 extracellular space; IDA:UniProtKB. # GO_component GO:0005768 endosome; IDA:MGI. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IGI:BHF-UCL. # GO_component GO:0005905 clathrin-coated pit; IDA:UniProtKB. # GO_component GO:0009897 external side of plasma membrane; IGI:BHF-UCL. # GO_component GO:0009986 cell surface; IDA:UniProtKB. # GO_component GO:0016020 membrane; NAS:UniProtKB. # GO_component GO:0016023 cytoplasmic, membrane-bounded vesicle; IDA:MGI. # GO_component GO:0016323 basolateral plasma membrane; IDA:BHF-UCL. # GO_component GO:0042470 melanosome; IEA:UniProtKB-SubCell. # GO_component GO:0043231 intracellular membrane-bounded organelle; IDA:HPA. # GO_component GO:0048471 perinuclear region of cytoplasm; IDA:CACAO. # GO_component GO:0055037 recycling endosome; IDA:UniProtKB. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_component GO:0072562 blood microparticle; IDA:UniProtKB. # GO_component GO:1903561 extracellular vesicle; IDA:UniProtKB. # GO_component GO:1990712 HFE-transferrin receptor complex; IDA:BHF-UCL. # GO_function GO:0001618 virus receptor activity; IEA:UniProtKB-KW. # GO_function GO:0001948 glycoprotein binding; IPI:BHF-UCL. # GO_function GO:0003725 double-stranded RNA binding; IDA:MGI. # GO_function GO:0004998 transferrin receptor activity; NAS:UniProtKB. # GO_function GO:0033570 transferrin transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0042803 protein homodimerization activity; IPI:BHF-UCL. # GO_function GO:0044822 poly(A) RNA binding; IDA:UniProtKB. # GO_process GO:0006879 cellular iron ion homeostasis; NAS:UniProtKB. # GO_process GO:0030316 osteoclast differentiation; IEA:Ensembl. # GO_process GO:0030890 positive regulation of B cell proliferation; IDA:UniProtKB. # GO_process GO:0031623 receptor internalization; IDA:UniProtKB. # GO_process GO:0033572 transferrin transport; IDA:UniProtKB. # GO_process GO:0035690 cellular response to drug; IDA:MGI. # GO_process GO:0042102 positive regulation of T cell proliferation; IDA:UniProtKB. # GO_process GO:0045780 positive regulation of bone resorption; IEA:Ensembl. # GO_process GO:0045830 positive regulation of isotype switching; IDA:UniProtKB. # GO_process GO:0097286 iron ion import; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005576 extracellular region # GOslim_component GO:0005615 extracellular space # GOslim_component GO:0005768 endosome # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0031410 cytoplasmic vesicle # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0003723 RNA binding # GOslim_function GO:0008565 protein transporter activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0016192 vesicle-mediated transport # GOslim_process GO:0030154 cell differentiation # GOslim_process GO:0042592 homeostatic process # Gene3D 1.20.930.40 -; 1. # Genevisible P02786 HS # HGNC HGNC:11763 TFRC # INDUCTION TFR1_HUMAN Regulated by cellular iron levels through binding of the iron regulatory proteins, IRP1 and IRP2, to iron-responsive elements in the 3'-UTR. Up-regulated upon mitogenic stimulation. # INTERACTION TFR1_HUMAN Self; NbExp=2; IntAct=EBI-355727, EBI-355727; P02768 ALB; NbExp=2; IntAct=EBI-355727, EBI-714423; Q30201 HFE; NbExp=3; IntAct=EBI-355727, EBI-1028850; O43765 SGTA; NbExp=3; IntAct=EBI-355727, EBI-347996; Q9P0V3 SH3BP4; NbExp=6; IntAct=EBI-355727, EBI-1049513; # IntAct P02786 58 # InterPro IPR003137 PA_domain # InterPro IPR007365 TFR-like_dimer_dom # InterPro IPR007484 Peptidase_M28 # InterPro IPR029513 TfR # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04090 Cellular antigens # KEGG_Pathway ko04066 HIF-1 signaling pathway # KEGG_Pathway ko04144 Endocytosis # KEGG_Pathway ko04145 Phagosome # KEGG_Pathway ko04640 Hematopoietic cell lineage # MIM 190010 gene # MIM 616740 phenotype # MISCELLANEOUS TFR1_HUMAN Canine and feline parvoviruses bind human and feline transferrin receptors and use these receptors to enter and infect cells. # MISCELLANEOUS TFR1_HUMAN Serum transferrin receptor (sTfR) is used as a means of detecting erythropoietin (EPO) misuse by athletes and as a diagnostic test for anemia resulting from a number of conditions including rheumatoid arthritis, pregnancy, irritable bowel syndrome and in HIV patients. # Organism TFR1_HUMAN Homo sapiens (Human) # PANTHER PTHR10404:SF26 PTHR10404:SF26 # PDB 1CX8 X-ray; 3.20 A; A/B/C/D/E/F/G/H=122-760 # PDB 1DE4 X-ray; 2.80 A; C/F/I=121-760 # PDB 1SUV EM; 7.50 A; A/B=122-760 # PDB 2NSU EM; 27.00 A; A/B=122-760 # PDB 3KAS X-ray; 2.40 A; A=121-760 # PDB 3S9L X-ray; 3.22 A; A/B=120-760 # PDB 3S9M X-ray; 3.32 A; A/B=120-760 # PDB 3S9N X-ray; 3.25 A; A/B=120-760 # PIR A93343 JXHU # PTM TFR1_HUMAN N- and O-glycosylated, phosphorylated and palmitoylated. The serum form is only glycosylated. {ECO 0000269|PubMed 1421756, ECO 0000269|PubMed 1421757, ECO 0000269|PubMed 16335952, ECO 0000269|PubMed 19159218, ECO 0000269|PubMed 19349973, ECO 0000269|PubMed 3582362}. # PTM TFR1_HUMAN Palmitoylated on both Cys-62 and Cys-67. Cys-62 seems to be the major site of palmitoylation. {ECO 0000269|PubMed 3582362}. # PTM TFR1_HUMAN Proteolytically cleaved on Arg-100 to produce the soluble serum form (sTfR). # Pfam PF02225 PA # Pfam PF04253 TFR_dimer # Pfam PF04389 Peptidase_M28 # Proteomes UP000005640 Chromosome 3 # Reactome R-HSA-432722 Golgi Associated Vesicle Biogenesis # Reactome R-HSA-8856825 Cargo recognition for clathrin-mediated endocytosis # Reactome R-HSA-8856828 Clathrin-mediated endocytosis # Reactome R-HSA-917977 Transferrin endocytosis and recycling # RecName TFR1_HUMAN Transferrin receptor protein 1 # RecName TFR1_HUMAN Transferrin receptor protein 1, serum form # RefSeq NP_001121620 NM_001128148.2 # RefSeq NP_001300894 NM_001313965.1 # RefSeq NP_001300895 NM_001313966.1 # RefSeq NP_003225 NM_003234.3 # SEQUENCE CAUTION Sequence=BAD92491.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the peptidase M28 family. M28B subfamily. {ECO 0000305}. # SIMILARITY Contains 1 PA (protease associated) domain. {ECO 0000305}. # SUBCELLULAR LOCATION TFR1_HUMAN Cell membrane {ECO 0000269|PubMed 17081065}; Single-pass type II membrane protein {ECO 0000269|PubMed 17081065}. Melanosome {ECO 0000269|PubMed 17081065}. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. {ECO 0000269|PubMed 17081065}. # SUBCELLULAR LOCATION TFR1_HUMAN Transferrin receptor protein 1, serum form Secreted {ECO 0000269|PubMed 17081065}. # SUBUNIT TFR1_HUMAN (Microbial infection) Interacts with Guanarito, Junin and Machupo arenavirus glycoprotein complex (PubMed 17287727, PubMed 18268337). {ECO 0000269|PubMed 17287727, ECO 0000269|PubMed 18268337}. # SUBUNIT TFR1_HUMAN Homodimer; disulfide-linked. Binds one transferrin or HFE molecule per subunit. Binds the HLA class II histocompatibility antigen, DR1. Interacts with SH3BP3. Interacts with STEAP3; facilitates TFRC endocytosis in erythroid precursor cells (PubMed 26642240). {ECO 0000269|PubMed 16325581, ECO 0000269|PubMed 26642240}. # SUPFAM SSF47672 SSF47672 # UCSC uc003fvz human # WEB RESOURCE TFR1_HUMAN Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http //atlasgeneticsoncology.org/Genes/TFRCID259ch3q29.html"; # eggNOG COG2234 LUCA # eggNOG KOG2195 Eukaryota BLAST swissprot:TFR1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:TFR1_HUMAN BioCyc ZFISH:ENSG00000072274-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000072274-MONOMER COXPRESdb 7037 http://coxpresdb.jp/data/gene/7037.shtml CleanEx HS_TFRC http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_TFRC DIP DIP-2736N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-2736N DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1006/jmbi.2001.5048 http://dx.doi.org/10.1006/jmbi.2001.5048 DOI 10.1007/s004390100599 http://dx.doi.org/10.1007/s004390100599 DOI 10.1016/0092-8674(84)90004-7 http://dx.doi.org/10.1016/0092-8674(84)90004-7 DOI 10.1016/0092-8674(87)90295-9 http://dx.doi.org/10.1016/0092-8674(87)90295-9 DOI 10.1016/S0378-1119(97)00356-9 http://dx.doi.org/10.1016/S0378-1119(97)00356-9 DOI 10.1016/S0969-2126(98)00124-5 http://dx.doi.org/10.1016/S0969-2126(98)00124-5 DOI 10.1016/j.cell.2005.10.021 http://dx.doi.org/10.1016/j.cell.2005.10.021 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/pr0502065 http://dx.doi.org/10.1021/pr0502065 DOI 10.1021/pr060363j http://dx.doi.org/10.1021/pr060363j DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1021/pr8008012 http://dx.doi.org/10.1021/pr8008012 DOI 10.1038/311675b0 http://dx.doi.org/10.1038/311675b0 DOI 10.1038/358764a0 http://dx.doi.org/10.1038/358764a0 DOI 10.1038/nature05539 http://dx.doi.org/10.1038/nature05539 DOI 10.1038/nbt.1532 http://dx.doi.org/10.1038/nbt.1532 DOI 10.1038/nbt1046 http://dx.doi.org/10.1038/nbt1046 DOI 10.1038/ng.3465 http://dx.doi.org/10.1038/ng.3465 DOI 10.1042/bj2670031 http://dx.doi.org/10.1042/bj2670031 DOI 10.1042/bj3060129 http://dx.doi.org/10.1042/bj3060129 DOI 10.1042/bj3410011 http://dx.doi.org/10.1042/bj3410011 DOI 10.1073/pnas.0709254105 http://dx.doi.org/10.1073/pnas.0709254105 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1083/jcb.110.2.283 http://dx.doi.org/10.1083/jcb.110.2.283 DOI 10.1093/glycob/2.4.345 http://dx.doi.org/10.1093/glycob/2.4.345 DOI 10.1093/glycob/2.4.355 http://dx.doi.org/10.1093/glycob/2.4.355 DOI 10.1093/glycob/5.2.227 http://dx.doi.org/10.1093/glycob/5.2.227 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1432-1033.1996.0009u.x http://dx.doi.org/10.1111/j.1432-1033.1996.0009u.x DOI 10.1126/science.286.5440.779 http://dx.doi.org/10.1126/science.286.5440.779 DOI 10.1126/scisignal.2000007 http://dx.doi.org/10.1126/scisignal.2000007 DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DOI 10.3181/00379727-197-43276 http://dx.doi.org/10.3181/00379727-197-43276 DrugBank DB05260 http://www.drugbank.ca/drugs/DB05260 EMBL AB209254 http://www.ebi.ac.uk/ena/data/view/AB209254 EMBL AF187320 http://www.ebi.ac.uk/ena/data/view/AF187320 EMBL BC001188 http://www.ebi.ac.uk/ena/data/view/BC001188 EMBL CH471191 http://www.ebi.ac.uk/ena/data/view/CH471191 EMBL CH471191 http://www.ebi.ac.uk/ena/data/view/CH471191 EMBL DQ496099 http://www.ebi.ac.uk/ena/data/view/DQ496099 EMBL M11507 http://www.ebi.ac.uk/ena/data/view/M11507 EMBL X01060 http://www.ebi.ac.uk/ena/data/view/X01060 Ensembl ENST00000360110 http://www.ensembl.org/id/ENST00000360110 Ensembl ENST00000392396 http://www.ensembl.org/id/ENST00000392396 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005576 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005576 GO_component GO:0005615 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005615 GO_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0005905 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005905 GO_component GO:0009897 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009897 GO_component GO:0009986 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009986 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016023 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016023 GO_component GO:0016323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016323 GO_component GO:0042470 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042470 GO_component GO:0043231 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043231 GO_component GO:0048471 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048471 GO_component GO:0055037 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055037 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_component GO:0072562 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0072562 GO_component GO:1903561 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903561 GO_component GO:1990712 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1990712 GO_function GO:0001618 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001618 GO_function GO:0001948 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001948 GO_function GO:0003725 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003725 GO_function GO:0004998 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004998 GO_function GO:0033570 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033570 GO_function GO:0042803 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042803 GO_function GO:0044822 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044822 GO_process GO:0006879 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006879 GO_process GO:0030316 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030316 GO_process GO:0030890 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030890 GO_process GO:0031623 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031623 GO_process GO:0033572 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033572 GO_process GO:0035690 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035690 GO_process GO:0042102 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042102 GO_process GO:0045780 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045780 GO_process GO:0045830 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045830 GO_process GO:0097286 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097286 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005576 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005576 GOslim_component GO:0005615 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005615 GOslim_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0031410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0003723 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003723 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0016192 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016192 GOslim_process GO:0030154 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030154 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 Gene3D 1.20.930.40 http://www.cathdb.info/version/latest/superfamily/1.20.930.40 GeneCards TFRC http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=TFRC GeneID 7037 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=7037 GeneTree ENSGT00550000074421 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074421 HGNC HGNC:11763 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11763 HOVERGEN HBG023177 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG023177&db=HOVERGEN HPA CAB000153 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB000153 HPA HPA028598 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA028598 InParanoid P02786 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P02786 IntAct P02786 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P02786* InterPro IPR003137 http://www.ebi.ac.uk/interpro/entry/IPR003137 InterPro IPR007365 http://www.ebi.ac.uk/interpro/entry/IPR007365 InterPro IPR007484 http://www.ebi.ac.uk/interpro/entry/IPR007484 InterPro IPR029513 http://www.ebi.ac.uk/interpro/entry/IPR029513 Jabion 7037 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=7037 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04090 http://www.genome.jp/dbget-bin/www_bget?ko04090 KEGG_Gene hsa:7037 http://www.genome.jp/dbget-bin/www_bget?hsa:7037 KEGG_Orthology KO:K06503 http://www.genome.jp/dbget-bin/www_bget?KO:K06503 KEGG_Pathway ko04066 http://www.genome.jp/kegg-bin/show_pathway?ko04066 KEGG_Pathway ko04144 http://www.genome.jp/kegg-bin/show_pathway?ko04144 KEGG_Pathway ko04145 http://www.genome.jp/kegg-bin/show_pathway?ko04145 KEGG_Pathway ko04640 http://www.genome.jp/kegg-bin/show_pathway?ko04640 MIM 190010 http://www.ncbi.nlm.nih.gov/omim/190010 MIM 616740 http://www.ncbi.nlm.nih.gov/omim/616740 MINT MINT-4999032 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-4999032 OMA DNSHVEM http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=DNSHVEM OrthoDB EOG091G02ZM http://cegg.unige.ch/orthodb/results?searchtext=EOG091G02ZM PANTHER PTHR10404:SF26 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10404:SF26 PDB 1CX8 http://www.ebi.ac.uk/pdbe-srv/view/entry/1CX8 PDB 1DE4 http://www.ebi.ac.uk/pdbe-srv/view/entry/1DE4 PDB 1SUV http://www.ebi.ac.uk/pdbe-srv/view/entry/1SUV PDB 2NSU http://www.ebi.ac.uk/pdbe-srv/view/entry/2NSU PDB 3KAS http://www.ebi.ac.uk/pdbe-srv/view/entry/3KAS PDB 3S9L http://www.ebi.ac.uk/pdbe-srv/view/entry/3S9L PDB 3S9M http://www.ebi.ac.uk/pdbe-srv/view/entry/3S9M PDB 3S9N http://www.ebi.ac.uk/pdbe-srv/view/entry/3S9N PDBsum 1CX8 http://www.ebi.ac.uk/pdbsum/1CX8 PDBsum 1DE4 http://www.ebi.ac.uk/pdbsum/1DE4 PDBsum 1SUV http://www.ebi.ac.uk/pdbsum/1SUV PDBsum 2NSU http://www.ebi.ac.uk/pdbsum/2NSU PDBsum 3KAS http://www.ebi.ac.uk/pdbsum/3KAS PDBsum 3S9L http://www.ebi.ac.uk/pdbsum/3S9L PDBsum 3S9M http://www.ebi.ac.uk/pdbsum/3S9M PDBsum 3S9N http://www.ebi.ac.uk/pdbsum/3S9N PSORT swissprot:TFR1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:TFR1_HUMAN PSORT-B swissprot:TFR1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:TFR1_HUMAN PSORT2 swissprot:TFR1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:TFR1_HUMAN Pfam PF02225 http://pfam.xfam.org/family/PF02225 Pfam PF04253 http://pfam.xfam.org/family/PF04253 Pfam PF04389 http://pfam.xfam.org/family/PF04389 PharmGKB PA36478 http://www.pharmgkb.org/do/serve?objId=PA36478&objCls=Gene Phobius swissprot:TFR1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:TFR1_HUMAN PhylomeDB P02786 http://phylomedb.org/?seqid=P02786 ProteinModelPortal P02786 http://www.proteinmodelportal.org/query/uniprot/P02786 PubMed 10377239 http://www.ncbi.nlm.nih.gov/pubmed/10377239 PubMed 10531064 http://www.ncbi.nlm.nih.gov/pubmed/10531064 PubMed 11702220 http://www.ncbi.nlm.nih.gov/pubmed/11702220 PubMed 11800564 http://www.ncbi.nlm.nih.gov/pubmed/11800564 PubMed 1380674 http://www.ncbi.nlm.nih.gov/pubmed/1380674 PubMed 1421756 http://www.ncbi.nlm.nih.gov/pubmed/1421756 PubMed 1421757 http://www.ncbi.nlm.nih.gov/pubmed/1421757 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15592455 http://www.ncbi.nlm.nih.gov/pubmed/15592455 PubMed 16325581 http://www.ncbi.nlm.nih.gov/pubmed/16325581 PubMed 16335952 http://www.ncbi.nlm.nih.gov/pubmed/16335952 PubMed 17081065 http://www.ncbi.nlm.nih.gov/pubmed/17081065 PubMed 17287727 http://www.ncbi.nlm.nih.gov/pubmed/17287727 PubMed 18268337 http://www.ncbi.nlm.nih.gov/pubmed/18268337 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 1871153 http://www.ncbi.nlm.nih.gov/pubmed/1871153 PubMed 19159218 http://www.ncbi.nlm.nih.gov/pubmed/19159218 PubMed 19349973 http://www.ncbi.nlm.nih.gov/pubmed/19349973 PubMed 19690332 http://www.ncbi.nlm.nih.gov/pubmed/19690332 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 2229063 http://www.ncbi.nlm.nih.gov/pubmed/2229063 PubMed 2298808 http://www.ncbi.nlm.nih.gov/pubmed/2298808 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 2327986 http://www.ncbi.nlm.nih.gov/pubmed/2327986 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 2507316 http://www.ncbi.nlm.nih.gov/pubmed/2507316 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 26642240 http://www.ncbi.nlm.nih.gov/pubmed/26642240 PubMed 3568132 http://www.ncbi.nlm.nih.gov/pubmed/3568132 PubMed 3582362 http://www.ncbi.nlm.nih.gov/pubmed/3582362 PubMed 6090955 http://www.ncbi.nlm.nih.gov/pubmed/6090955 PubMed 6094009 http://www.ncbi.nlm.nih.gov/pubmed/6094009 PubMed 7780197 http://www.ncbi.nlm.nih.gov/pubmed/7780197 PubMed 7864799 http://www.ncbi.nlm.nih.gov/pubmed/7864799 PubMed 8408022 http://www.ncbi.nlm.nih.gov/pubmed/8408022 PubMed 8631371 http://www.ncbi.nlm.nih.gov/pubmed/8631371 PubMed 9358047 http://www.ncbi.nlm.nih.gov/pubmed/9358047 PubMed 9782058 http://www.ncbi.nlm.nih.gov/pubmed/9782058 Reactome R-HSA-432722 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-432722 Reactome R-HSA-8856825 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-8856825 Reactome R-HSA-8856828 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-8856828 Reactome R-HSA-917977 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-917977 RefSeq NP_001121620 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001121620 RefSeq NP_001300894 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001300894 RefSeq NP_001300895 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001300895 RefSeq NP_003225 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_003225 SMR P02786 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P02786 STRING 9606.ENSP00000353224 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000353224&targetmode=cogs SUPFAM SSF47672 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF47672 UCSC uc003fvz http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003fvz&org=rat UniGene Hs.529618 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.529618 UniProtKB TFR1_HUMAN http://www.uniprot.org/uniprot/TFR1_HUMAN UniProtKB-AC P02786 http://www.uniprot.org/uniprot/P02786 charge swissprot:TFR1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:TFR1_HUMAN eggNOG COG2234 http://eggnogapi.embl.de/nog_data/html/tree/COG2234 eggNOG KOG2195 http://eggnogapi.embl.de/nog_data/html/tree/KOG2195 epestfind swissprot:TFR1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:TFR1_HUMAN garnier swissprot:TFR1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:TFR1_HUMAN helixturnhelix swissprot:TFR1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:TFR1_HUMAN hmoment swissprot:TFR1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:TFR1_HUMAN iep swissprot:TFR1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:TFR1_HUMAN inforesidue swissprot:TFR1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:TFR1_HUMAN neXtProt NX_P02786 http://www.nextprot.org/db/entry/NX_P02786 octanol swissprot:TFR1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:TFR1_HUMAN pepcoil swissprot:TFR1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:TFR1_HUMAN pepdigest swissprot:TFR1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:TFR1_HUMAN pepinfo swissprot:TFR1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:TFR1_HUMAN pepnet swissprot:TFR1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:TFR1_HUMAN pepstats swissprot:TFR1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:TFR1_HUMAN pepwheel swissprot:TFR1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:TFR1_HUMAN pepwindow swissprot:TFR1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:TFR1_HUMAN sigcleave swissprot:TFR1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:TFR1_HUMAN ## Database ID URL or Descriptions # AltName COX5A_HUMAN Cytochrome c oxidase polypeptide Va # BioGrid 114778 56 # CDD cd00923 Cyt_c_Oxidase_Va # ChiTaRS COX5A human # DrugBank DB02659 Cholic Acid # Ensembl ENST00000322347 ENSP00000317780; ENSG00000178741 # Ensembl ENST00000564811 ENSP00000456386; ENSG00000178741 # ExpressionAtlas P20674 baseline and differential # FUNCTION COX5A_HUMAN This is the heme A-containing chain of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport. # GO_component GO:0005743 mitochondrial inner membrane; TAS:Reactome. # GO_component GO:0005751 mitochondrial respiratory chain complex IV; IBA:GO_Central. # GO_component GO:0043209 myelin sheath; IEA:Ensembl. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0004129 cytochrome-c oxidase activity; TAS:ProtInc. # GO_function GO:0009055 electron carrier activity; TAS:UniProtKB. # GO_function GO:0046872 metal ion binding; IEA:UniProtKB-KW. # GO_process GO:0006123 mitochondrial electron transport, cytochrome c to oxygen; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0043226 organelle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0016491 oxidoreductase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006091 generation of precursor metabolites and energy # Gene3D 1.25.40.40 -; 1. # Genevisible P20674 HS # HGNC HGNC:2267 COX5A # INTERACTION COX5A_HUMAN Q96B26 EXOSC8; NbExp=3; IntAct=EBI-715032, EBI-371922; Q15323 KRT31; NbExp=3; IntAct=EBI-715032, EBI-948001; Q6A162 KRT40; NbExp=3; IntAct=EBI-715032, EBI-10171697; # IntAct P20674 26 # InterPro IPR003204 Cyt_c_oxidase_su5A/6 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Pathway ko00190 Oxidative phosphorylation # KEGG_Pathway ko04260 Cardiac muscle contraction # KEGG_Pathway ko05010 Alzheimer's disease # KEGG_Pathway ko05012 Parkinson's disease # KEGG_Pathway ko05016 Huntington's disease # MIM 603773 gene # Organism COX5A_HUMAN Homo sapiens (Human) # PANTHER PTHR14200 PTHR14200 # PIR JT0342 OTHU5A # Pfam PF02284 COX5A # Proteomes UP000005640 Chromosome 15 # Reactome R-HSA-5628897 TP53 Regulates Metabolic Genes # Reactome R-HSA-611105 Respiratory electron transport # RecName COX5A_HUMAN Cytochrome c oxidase subunit 5A, mitochondrial # RefSeq NP_004246 NM_004255.3 # SIMILARITY Belongs to the cytochrome c oxidase subunit 5A family. {ECO 0000305}. # SUBCELLULAR LOCATION COX5A_HUMAN Mitochondrion inner membrane. # SUPFAM SSF48479 SSF48479 # TCDB 3.D.4.11 the proton-translocating cytochrome oxidase (cox) superfamily # UCSC uc002azi human # eggNOG ENOG4111MPD LUCA # eggNOG KOG4077 Eukaryota BLAST swissprot:COX5A_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:COX5A_HUMAN BioCyc ZFISH:HS11312-MONOMER http://biocyc.org/getid?id=ZFISH:HS11312-MONOMER COXPRESdb 9377 http://coxpresdb.jp/data/gene/9377.shtml CleanEx HS_COX5A http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_COX5A DOI 10.1002/elps.11501401181 http://dx.doi.org/10.1002/elps.11501401181 DOI 10.1002/elps.11501601192 http://dx.doi.org/10.1002/elps.11501601192 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1016/0378-1119(88)90435-0 http://dx.doi.org/10.1016/0378-1119(88)90435-0 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1038/nature04601 http://dx.doi.org/10.1038/nature04601 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1471-2148-8-8 http://dx.doi.org/10.1186/1471-2148-8-8 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DrugBank DB02659 http://www.drugbank.ca/drugs/DB02659 EMBL AC125435 http://www.ebi.ac.uk/ena/data/view/AC125435 EMBL BC024240 http://www.ebi.ac.uk/ena/data/view/BC024240 EMBL CH471136 http://www.ebi.ac.uk/ena/data/view/CH471136 EMBL CR407649 http://www.ebi.ac.uk/ena/data/view/CR407649 EMBL DQ987236 http://www.ebi.ac.uk/ena/data/view/DQ987236 EMBL DQ987237 http://www.ebi.ac.uk/ena/data/view/DQ987237 EMBL M22760 http://www.ebi.ac.uk/ena/data/view/M22760 Ensembl ENST00000322347 http://www.ensembl.org/id/ENST00000322347 Ensembl ENST00000564811 http://www.ensembl.org/id/ENST00000564811 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0005751 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005751 GO_component GO:0043209 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043209 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0004129 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004129 GO_function GO:0009055 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009055 GO_function GO:0046872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046872 GO_process GO:0006123 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006123 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0016491 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016491 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006091 Gene3D 1.25.40.40 http://www.cathdb.info/version/latest/superfamily/1.25.40.40 GeneCards COX5A http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=COX5A GeneID 9377 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=9377 GeneTree ENSGT00390000001424 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000001424 HGNC HGNC:2267 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:2267 HOGENOM HOG000160656 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000160656&db=HOGENOM6 HOVERGEN HBG051088 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG051088&db=HOVERGEN HPA HPA027526 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA027526 InParanoid P20674 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P20674 IntAct P20674 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P20674* InterPro IPR003204 http://www.ebi.ac.uk/interpro/entry/IPR003204 Jabion 9377 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=9377 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00002 http://www.genome.jp/dbget-bin/www_bget?ko00002 KEGG_Gene hsa:9377 http://www.genome.jp/dbget-bin/www_bget?hsa:9377 KEGG_Orthology KO:K02264 http://www.genome.jp/dbget-bin/www_bget?KO:K02264 KEGG_Pathway ko00190 http://www.genome.jp/kegg-bin/show_pathway?ko00190 KEGG_Pathway ko04260 http://www.genome.jp/kegg-bin/show_pathway?ko04260 KEGG_Pathway ko05010 http://www.genome.jp/kegg-bin/show_pathway?ko05010 KEGG_Pathway ko05012 http://www.genome.jp/kegg-bin/show_pathway?ko05012 KEGG_Pathway ko05016 http://www.genome.jp/kegg-bin/show_pathway?ko05016 MIM 603773 http://www.ncbi.nlm.nih.gov/omim/603773 MINT MINT-1386385 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1386385 OMA SARCYSH http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=SARCYSH PANTHER PTHR14200 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR14200 PSORT swissprot:COX5A_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:COX5A_HUMAN PSORT-B swissprot:COX5A_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:COX5A_HUMAN PSORT2 swissprot:COX5A_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:COX5A_HUMAN Pfam PF02284 http://pfam.xfam.org/family/PF02284 PharmGKB PA26784 http://www.pharmgkb.org/do/serve?objId=PA26784&objCls=Gene Phobius swissprot:COX5A_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:COX5A_HUMAN PhylomeDB P20674 http://phylomedb.org/?seqid=P20674 ProteinModelPortal P20674 http://www.proteinmodelportal.org/query/uniprot/P20674 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16572171 http://www.ncbi.nlm.nih.gov/pubmed/16572171 PubMed 18197981 http://www.ncbi.nlm.nih.gov/pubmed/18197981 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 2853101 http://www.ncbi.nlm.nih.gov/pubmed/2853101 PubMed 7498159 http://www.ncbi.nlm.nih.gov/pubmed/7498159 PubMed 8313870 http://www.ncbi.nlm.nih.gov/pubmed/8313870 Reactome R-HSA-5628897 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5628897 Reactome R-HSA-611105 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-611105 RefSeq NP_004246 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004246 SMR P20674 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P20674 STRING 9606.ENSP00000317780 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000317780&targetmode=cogs SUPFAM SSF48479 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48479 SWISS-2DPAGE P20674 http://world-2dpage.expasy.org/swiss-2dpage/protein/ac=P20674 TCDB 3.D.4.11 http://www.tcdb.org/search/result.php?tc=3.D.4.11 UCSC uc002azi http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002azi&org=rat UniGene Hs.401903 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.401903 UniProtKB COX5A_HUMAN http://www.uniprot.org/uniprot/COX5A_HUMAN UniProtKB-AC P20674 http://www.uniprot.org/uniprot/P20674 charge swissprot:COX5A_HUMAN http://rest.g-language.org/emboss/charge/swissprot:COX5A_HUMAN eggNOG ENOG4111MPD http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111MPD eggNOG KOG4077 http://eggnogapi.embl.de/nog_data/html/tree/KOG4077 epestfind swissprot:COX5A_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:COX5A_HUMAN garnier swissprot:COX5A_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:COX5A_HUMAN helixturnhelix swissprot:COX5A_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:COX5A_HUMAN hmoment swissprot:COX5A_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:COX5A_HUMAN iep swissprot:COX5A_HUMAN http://rest.g-language.org/emboss/iep/swissprot:COX5A_HUMAN inforesidue swissprot:COX5A_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:COX5A_HUMAN neXtProt NX_P20674 http://www.nextprot.org/db/entry/NX_P20674 octanol swissprot:COX5A_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:COX5A_HUMAN pepcoil swissprot:COX5A_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:COX5A_HUMAN pepdigest swissprot:COX5A_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:COX5A_HUMAN pepinfo swissprot:COX5A_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:COX5A_HUMAN pepnet swissprot:COX5A_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:COX5A_HUMAN pepstats swissprot:COX5A_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:COX5A_HUMAN pepwheel swissprot:COX5A_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:COX5A_HUMAN pepwindow swissprot:COX5A_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:COX5A_HUMAN sigcleave swissprot:COX5A_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:COX5A_HUMAN ## Database ID URL or Descriptions # AltName PM34_HUMAN 34 kDa peroxisomal membrane protein # AltName PM34_HUMAN Solute carrier family 25 member 17 # BioGrid 115741 30 # CAUTION PM34_HUMAN Was first identified as a peroxisomal ATP transporter (PubMed 12445829). However, later experiments showed that it acts as a peroxisomal transporter for multiple cofactors (PubMed 22185573). {ECO 0000305|PubMed 12445829, ECO 0000305|PubMed 22185573}. # DOMAIN PM34_HUMAN The N- and C-terminal portions are exposed to the cytoplasm. Lacks a typical peroxisomal sorting signal. A region between helical transmembrane domains (TM) 4 and 5 and TM1-TM3 or TM4-TM6 are necessary for the peroxisome-targeting activity. # Ensembl ENST00000435456 ENSP00000390722; ENSG00000100372 # ExpressionAtlas O43808 baseline and differential # FUNCTION PM34_HUMAN Peroxisomal transporter for multiple cofactors like coenzyme A (CoA), flavin adenine dinucleotide (FAD), flavin mononucleotide (FMN) and nucleotide adenosine monophosphate (AMP), and to a lesser extent for nicotinamide adenine dinucleotide (NAD(+)), adenosine diphosphate (ADP) and adenosine 3',5'- diphosphate (PAP). May catalyze the transport of free CoA, FAD and NAD(+) from the cytosol into the peroxisomal matrix by a counter- exchange mechanism. Inhibited by pyridoxal 5'-phosphate and bathophenanthroline in vitro. {ECO 0000269|PubMed 12445829, ECO 0000269|PubMed 22185573}. # GO_component GO:0005739 mitochondrion; IEA:Ensembl. # GO_component GO:0005777 peroxisome; IDA:BHF-UCL. # GO_component GO:0005778 peroxisomal membrane; IDA:UniProtKB. # GO_component GO:0005779 integral component of peroxisomal membrane; IDA:UniProtKB. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0043231 intracellular membrane-bounded organelle; IDA:HPA. # GO_function GO:0000295 adenine nucleotide transmembrane transporter activity; TAS:Reactome. # GO_function GO:0005347 ATP transmembrane transporter activity; IGI:BHF-UCL. # GO_function GO:0015217 ADP transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0015228 coenzyme A transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0015230 FAD transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0044610 FMN transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0051087 chaperone binding; IPI:BHF-UCL. # GO_function GO:0051724 NAD transporter activity; IDA:UniProtKB. # GO_function GO:0080122 AMP transmembrane transporter activity; IDA:UniProtKB. # GO_process GO:0001561 fatty acid alpha-oxidation; TAS:Reactome. # GO_process GO:0006635 fatty acid beta-oxidation; IGI:BHF-UCL. # GO_process GO:0015867 ATP transport; IGI:BHF-UCL. # GO_process GO:0015908 fatty acid transport; IGI:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005739 mitochondrion # GOslim_component GO:0005777 peroxisome # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006629 lipid metabolic process # GOslim_process GO:0006810 transport # GOslim_process GO:0009056 catabolic process # GOslim_process GO:0044281 small molecule metabolic process # Gene3D 1.50.40.10 -; 1. # Genevisible O43808 HS # HGNC HGNC:10987 SLC25A17 # INTERACTION PM34_HUMAN P40855 PEX19; NbExp=4; IntAct=EBI-594912, EBI-594747; # IntAct O43808 3 # InterPro IPR002067 Mit_carrier # InterPro IPR018108 Mitochondrial_sb/sol_carrier # InterPro IPR023395 Mt_carrier_dom # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02001 Solute carrier family # KEGG_Pathway ko04146 Peroxisome # MIM 606795 gene # Organism PM34_HUMAN Homo sapiens (Human) # PRINTS PR00926 MITOCARRIER # PROSITE PS50920 SOLCAR; 3 # Pfam PF00153 Mito_carr; 3 # Proteomes UP000005640 Chromosome 22 # Reactome R-HSA-389599 Alpha-oxidation of phytanate # RecName PM34_HUMAN Peroxisomal membrane protein PMP34 # RefSeq NP_001269656 NM_001282727.1 # RefSeq NP_006349 NM_006358.3 # SIMILARITY Belongs to the mitochondrial carrier (TC 2.A.29) family. {ECO 0000305}. # SIMILARITY Contains 3 Solcar repeats. {ECO:0000255|PROSITE- ProRule PRU00282}. # SUBCELLULAR LOCATION PM34_HUMAN Cytoplasm. Peroxisome membrane; Multi-pass membrane protein. # SUBUNIT PM34_HUMAN Interacts (via N- and C-terminus peroxisomal targeting regions) with PEX19; the interaction occurs with the newly synthesized SLC25A17 in the cytosol. {ECO 0000269|PubMed 10704444, ECO 0000269|PubMed 11402059, ECO 0000269|PubMed 14709540}. # SUPFAM SSF103506 SSF103506 # TCDB 2.A.29.20 the mitochondrial carrier (mc) family # TISSUE SPECIFICITY Ubiquitous. Expressed in liver. {ECO:0000269|PubMed 22185573}. # UCSC uc003azc human # eggNOG ENOG410ZNC0 LUCA # eggNOG KOG0769 Eukaryota BLAST swissprot:PM34_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:PM34_HUMAN BioCyc ZFISH:ENSG00000100372-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000100372-MONOMER COXPRESdb 10478 http://coxpresdb.jp/data/gene/10478.shtml CleanEx HS_SLC25A17 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC25A17 DOI 10.1016/S0006-291X(02)02663-3 http://dx.doi.org/10.1016/S0006-291X(02)02663-3 DOI 10.1038/990031 http://dx.doi.org/10.1038/990031 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1042/BJ20111420 http://dx.doi.org/10.1042/BJ20111420 DOI 10.1046/j.1432-1327.1998.2580332.x http://dx.doi.org/10.1046/j.1432-1327.1998.2580332.x DOI 10.1074/jbc.M003304200 http://dx.doi.org/10.1074/jbc.M003304200 DOI 10.1083/jcb.148.5.931 http://dx.doi.org/10.1083/jcb.148.5.931 DOI 10.1083/jcb.153.6.1141 http://dx.doi.org/10.1083/jcb.153.6.1141 DOI 10.1083/jcb.200304111 http://dx.doi.org/10.1083/jcb.200304111 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/gb-2004-5-10-r84 http://dx.doi.org/10.1186/gb-2004-5-10-r84 EMBL AK292924 http://www.ebi.ac.uk/ena/data/view/AK292924 EMBL AL049764 http://www.ebi.ac.uk/ena/data/view/AL049764 EMBL AL049764 http://www.ebi.ac.uk/ena/data/view/AL049764 EMBL BC005957 http://www.ebi.ac.uk/ena/data/view/BC005957 EMBL BC012998 http://www.ebi.ac.uk/ena/data/view/BC012998 EMBL CH471095 http://www.ebi.ac.uk/ena/data/view/CH471095 EMBL CR456577 http://www.ebi.ac.uk/ena/data/view/CR456577 EMBL Y12860 http://www.ebi.ac.uk/ena/data/view/Y12860 EMBL Z98048 http://www.ebi.ac.uk/ena/data/view/Z98048 EMBL Z98048 http://www.ebi.ac.uk/ena/data/view/Z98048 Ensembl ENST00000435456 http://www.ensembl.org/id/ENST00000435456 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005777 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005777 GO_component GO:0005778 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005778 GO_component GO:0005779 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005779 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0043231 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043231 GO_function GO:0000295 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000295 GO_function GO:0005347 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005347 GO_function GO:0015217 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015217 GO_function GO:0015228 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015228 GO_function GO:0015230 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015230 GO_function GO:0044610 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044610 GO_function GO:0051087 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051087 GO_function GO:0051724 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051724 GO_function GO:0080122 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0080122 GO_process GO:0001561 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001561 GO_process GO:0006635 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006635 GO_process GO:0015867 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015867 GO_process GO:0015908 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015908 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_component GO:0005777 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005777 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006629 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006629 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0009056 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009056 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 Gene3D 1.50.40.10 http://www.cathdb.info/version/latest/superfamily/1.50.40.10 GeneCards SLC25A17 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC25A17 GeneID 10478 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=10478 GeneTree ENSGT00770000120566 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00770000120566 HGNC HGNC:10987 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10987 HOGENOM HOG000159426 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000159426&db=HOGENOM6 HOVERGEN HBG003235 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG003235&db=HOVERGEN HPA HPA052708 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA052708 HPA HPA060972 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA060972 InParanoid O43808 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O43808 IntAct O43808 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O43808* InterPro IPR002067 http://www.ebi.ac.uk/interpro/entry/IPR002067 InterPro IPR018108 http://www.ebi.ac.uk/interpro/entry/IPR018108 InterPro IPR023395 http://www.ebi.ac.uk/interpro/entry/IPR023395 Jabion 10478 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=10478 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:10478 http://www.genome.jp/dbget-bin/www_bget?hsa:10478 KEGG_Orthology KO:K13354 http://www.genome.jp/dbget-bin/www_bget?KO:K13354 KEGG_Pathway ko04146 http://www.genome.jp/kegg-bin/show_pathway?ko04146 MIM 606795 http://www.ncbi.nlm.nih.gov/omim/606795 OMA MGLKSAH http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=MGLKSAH OrthoDB EOG091G0DMQ http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0DMQ PRINTS PR00926 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00926 PROSITE PS50920 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50920 PSORT swissprot:PM34_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:PM34_HUMAN PSORT-B swissprot:PM34_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:PM34_HUMAN PSORT2 swissprot:PM34_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:PM34_HUMAN Pfam PF00153 http://pfam.xfam.org/family/PF00153 PharmGKB PA35863 http://www.pharmgkb.org/do/serve?objId=PA35863&objCls=Gene Phobius swissprot:PM34_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:PM34_HUMAN PhylomeDB O43808 http://phylomedb.org/?seqid=O43808 ProteinModelPortal O43808 http://www.proteinmodelportal.org/query/uniprot/O43808 PubMed 10591208 http://www.ncbi.nlm.nih.gov/pubmed/10591208 PubMed 10704444 http://www.ncbi.nlm.nih.gov/pubmed/10704444 PubMed 11121399 http://www.ncbi.nlm.nih.gov/pubmed/11121399 PubMed 11402059 http://www.ncbi.nlm.nih.gov/pubmed/11402059 PubMed 12445829 http://www.ncbi.nlm.nih.gov/pubmed/12445829 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 14709540 http://www.ncbi.nlm.nih.gov/pubmed/14709540 PubMed 15461802 http://www.ncbi.nlm.nih.gov/pubmed/15461802 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 22185573 http://www.ncbi.nlm.nih.gov/pubmed/22185573 PubMed 9874197 http://www.ncbi.nlm.nih.gov/pubmed/9874197 Reactome R-HSA-389599 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-389599 RefSeq NP_001269656 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001269656 RefSeq NP_006349 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_006349 STRING 9606.ENSP00000390722 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000390722&targetmode=cogs SUPFAM SSF103506 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103506 TCDB 2.A.29.20 http://www.tcdb.org/search/result.php?tc=2.A.29.20 UCSC uc003azc http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003azc&org=rat UniGene Hs.474938 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.474938 UniProtKB PM34_HUMAN http://www.uniprot.org/uniprot/PM34_HUMAN UniProtKB-AC O43808 http://www.uniprot.org/uniprot/O43808 charge swissprot:PM34_HUMAN http://rest.g-language.org/emboss/charge/swissprot:PM34_HUMAN eggNOG ENOG410ZNC0 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410ZNC0 eggNOG KOG0769 http://eggnogapi.embl.de/nog_data/html/tree/KOG0769 epestfind swissprot:PM34_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:PM34_HUMAN garnier swissprot:PM34_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:PM34_HUMAN helixturnhelix swissprot:PM34_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:PM34_HUMAN hmoment swissprot:PM34_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:PM34_HUMAN iep swissprot:PM34_HUMAN http://rest.g-language.org/emboss/iep/swissprot:PM34_HUMAN inforesidue swissprot:PM34_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:PM34_HUMAN neXtProt NX_O43808 http://www.nextprot.org/db/entry/NX_O43808 octanol swissprot:PM34_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:PM34_HUMAN pepcoil swissprot:PM34_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:PM34_HUMAN pepdigest swissprot:PM34_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:PM34_HUMAN pepinfo swissprot:PM34_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:PM34_HUMAN pepnet swissprot:PM34_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:PM34_HUMAN pepstats swissprot:PM34_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:PM34_HUMAN pepwheel swissprot:PM34_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:PM34_HUMAN pepwindow swissprot:PM34_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:PM34_HUMAN sigcleave swissprot:PM34_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:PM34_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS MRP1_HUMAN Event=Alternative splicing; Named isoforms=9; Comment=Additional isoforms seem to exist. Experimental confirmation may be lacking for some isoforms.; Name=1; Synonyms=Allexons; IsoId=P33527-1; Sequence=Displayed; Name=2; Synonyms=Delexon-17; IsoId=P33527-2; Sequence=VSP_000037; Name=3; Synonyms=Delexon-18; IsoId=P33527-3; Sequence=VSP_000038; Name=4; Synonyms=Delexon-30; IsoId=P33527-4; Sequence=VSP_000039; Name=5; Synonyms=Delexon-17-18; IsoId=P33527-5; Sequence=VSP_000037, VSP_000038; Name=6; Synonyms=Delexon-17-30; IsoId=P33527-6; Sequence=VSP_000037, VSP_000039; Name=7; Synonyms=Delexon-18-30; IsoId=P33527-7; Sequence=VSP_000038, VSP_000039; Name=8; Synonyms=Delexon-17-18-30; IsoId=P33527-8; Sequence=VSP_000037, VSP_000038, VSP_000039; Name=9; IsoId=P33527-9; Sequence=VSP_017014; Note=No experimental confirmation available.; # AltName MRP1_HUMAN ATP-binding cassette sub-family C member 1 # AltName MRP1_HUMAN Leukotriene C(4) transporter # BioGrid 110503 51 # CCDS CCDS42122 -. [P33527-1] # ChiTaRS ABCC1 human # DrugBank DB00091 Cyclosporine # DrugBank DB00143 Glutathione # DrugBank DB00199 Erythromycin # DrugBank DB00224 Indinavir # DrugBank DB00286 Conjugated Estrogens # DrugBank DB00328 Indomethacin # DrugBank DB00345 Aminohippurate # DrugBank DB00396 Progesterone # DrugBank DB00399 Zoledronate # DrugBank DB00445 Epirubicin # DrugBank DB00503 Ritonavir # DrugBank DB00541 Vincristine # DrugBank DB00563 Methotrexate # DrugBank DB00570 Vinblastine # DrugBank DB00586 Diclofenac # DrugBank DB00602 Ivermectin # DrugBank DB00661 Verapamil # DrugBank DB00693 Fluorescein # DrugBank DB00694 Daunorubicin # DrugBank DB00701 Amprenavir # DrugBank DB00709 Lamivudine # DrugBank DB00762 Irinotecan # DrugBank DB00773 Etoposide # DrugBank DB00834 Mifepristone # DrugBank DB00970 Dactinomycin # DrugBank DB00997 Doxorubicin # DrugBank DB01016 Glyburide # DrugBank DB01032 Probenecid # DrugBank DB01045 Rifampicin # DrugBank DB01050 Ibuprofen # DrugBank DB01072 Atazanavir # DrugBank DB01076 Atorvastatin # DrugBank DB01098 Rosuvastatin # DrugBank DB01138 Sulfinpyrazone # DrugBank DB01165 Ofloxacin # DrugBank DB01174 Phenobarbital # DrugBank DB01177 Idarubicin # DrugBank DB01204 Mitoxantrone # DrugBank DB01229 Paclitaxel # DrugBank DB01232 Saquinavir # DrugBank DB01248 Docetaxel # DrugBank DB01394 Colchicine # DrugBank DB02659 Cholic Acid # DrugBank DB05294 Vandetanib # DrugBank DB05812 Abiraterone # DrugBank DB06335 Saxagliptin # DrugBank DB08881 Vemurafenib # Ensembl ENST00000399410 ENSP00000382342; ENSG00000103222. [P33527-1] # Ensembl ENST00000621144 ENSP00000483316; ENSG00000278183. [P33527-1] # ExpressionAtlas P33527 baseline and differential # FUNCTION MRP1_HUMAN Mediates export of organic anions and drugs from the cytoplasm. Mediates ATP-dependent transport of glutathione and glutathione conjugates, leukotriene C4, estradiol-17-beta-o- glucuronide, methotrexate, antiviral drugs and other xenobiotics. Confers resistance to anticancer drugs. Hydrolyzes ATP with low efficiency. {ECO 0000269|PubMed 10064732, ECO 0000269|PubMed 11114332, ECO 0000269|PubMed 16230346}. # GO_component GO:0005886 plasma membrane; IDA:HPA. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0016323 basolateral plasma membrane; IDA:CACAO. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0005215 transporter activity; TAS:ProtInc. # GO_function GO:0005524 ATP binding; TAS:ProtInc. # GO_function GO:0015420 cobalamin-transporting ATPase activity; TAS:Reactome. # GO_function GO:0016887 ATPase activity; IDA:UniProtKB. # GO_function GO:0042626 ATPase activity, coupled to transmembrane movement of substances; TAS:Reactome. # GO_function GO:0043225 ATPase-coupled anion transmembrane transporter activity; TAS:Reactome. # GO_process GO:0006691 leukotriene metabolic process; TAS:Reactome. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0009235 cobalamin metabolic process; TAS:Reactome. # GO_process GO:0042493 response to drug; TAS:ProtInc. # GO_process GO:0055085 transmembrane transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006629 lipid metabolic process # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0044281 small molecule metabolic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 3.40.50.300 -; 2. # Genevisible P33527 HS # HGNC HGNC:51 ABCC1 # IntAct P33527 14 # InterPro IPR003439 ABC_transporter-like # InterPro IPR003593 AAA+_ATPase # InterPro IPR005292 Multidrug-R_assoc # InterPro IPR011527 ABC1_TM_dom # InterPro IPR017871 ABC_transporter_CS # InterPro IPR027417 P-loop_NTPase # InterPro IPR030241 ABCC1 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02000 Transporters # KEGG_Pathway ko02010 ABC transporters # KEGG_Pathway ko04977 Vitamin digestion and absorption # MIM 158343 gene # Organism MRP1_HUMAN Homo sapiens (Human) # PANTHER PTHR24223:SF241 PTHR24223:SF241; 2 # PDB 2CBZ X-ray; 1.50 A; A=642-871 # PDB 4C3Z X-ray; 2.10 A; A=628-881 # PIR A44231 DVHUAR # PROSITE PS00211 ABC_TRANSPORTER_1; 2 # PROSITE PS50893 ABC_TRANSPORTER_2; 2 # PROSITE PS50929 ABC_TM1F; 2 # Pfam PF00005 ABC_tran; 2 # Pfam PF00664 ABC_membrane; 2 # Proteomes UP000005640 Chromosome 16 # Reactome R-HSA-196741 Cobalamin (Cbl, vitamin B12) transport and metabolism # Reactome R-HSA-2142691 Synthesis of Leukotrienes (LT) and Eoxins (EX) # Reactome R-HSA-382556 ABC-family proteins mediated transport # RecName MRP1_HUMAN Multidrug resistance-associated protein 1 # RefSeq NP_004987 NM_004996.3. [P33527-1] # SIMILARITY Belongs to the ABC transporter superfamily. ABCC family. Conjugate transporter (TC 3.A.1.208) subfamily. {ECO 0000305}. # SIMILARITY Contains 2 ABC transmembrane type-1 domains. {ECO:0000255|PROSITE-ProRule PRU00441}. # SIMILARITY Contains 2 ABC transporter domains. {ECO:0000255|PROSITE-ProRule PRU00434}. # SMART SM00382 AAA; 2 # SUBCELLULAR LOCATION MRP1_HUMAN Cell membrane {ECO 0000269|PubMed 16230346}; Multi-pass membrane protein {ECO 0000255|PROSITE-ProRule PRU00441, ECO 0000269|PubMed 16230346}. # SUPFAM SSF52540 SSF52540; 2 # SUPFAM SSF90123 SSF90123; 2 # TCDB 3.A.1.208 the atp-binding cassette (abc) superfamily # TIGRFAMs TIGR00957 MRP_assoc_pro # TISSUE SPECIFICITY MRP1_HUMAN Lung, testis and peripheral blood mononuclear cells. # UCSC uc010bvi human. [P33527-1] # WEB RESOURCE MRP1_HUMAN Name=ABCMdb; Note=Database for mutations in ABC proteins; URL="http //abcmutations.hegelab.org/proteinDetails?uniprot_id=P33527"; # WEB RESOURCE MRP1_HUMAN Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http //atlasgeneticsoncology.org/Genes/MRPID106.html"; # WEB RESOURCE MRP1_HUMAN Name=NIEHS-SNPs; URL="http //egp.gs.washington.edu/data/abcc1/"; # eggNOG COG1132 LUCA # eggNOG KOG0054 Eukaryota BLAST swissprot:MRP1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:MRP1_HUMAN BioCyc ZFISH:ENSG00000103222-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000103222-MONOMER COXPRESdb 4363 http://coxpresdb.jp/data/gene/4363.shtml CleanEx HS_ABCC1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ABCC1 DOI 10.1002/1098-1004(2001)17:1<74::AID-HUMU14>3.0.CO http://dx.doi.org/10.1002/1098-1004(2001)17:1<74::AID-HUMU14>3.0.CO DOI 10.1006/abbi.2001.2441 http://dx.doi.org/10.1006/abbi.2001.2441 DOI 10.1006/geno.1997.4950 http://dx.doi.org/10.1006/geno.1997.4950 DOI 10.1006/geno.1999.5927 http://dx.doi.org/10.1006/geno.1999.5927 DOI 10.1007/s100380170017 http://dx.doi.org/10.1007/s100380170017 DOI 10.1016/S0092-8674(00)00179-3 http://dx.doi.org/10.1016/S0092-8674(00)00179-3 DOI 10.1016/j.cell.2006.09.026 http://dx.doi.org/10.1016/j.cell.2006.09.026 DOI 10.1016/j.jmb.2006.04.005 http://dx.doi.org/10.1016/j.jmb.2006.04.005 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1016/j.molcel.2008.07.007 http://dx.doi.org/10.1016/j.molcel.2008.07.007 DOI 10.1021/ac9004309 http://dx.doi.org/10.1021/ac9004309 DOI 10.1021/bi0495230 http://dx.doi.org/10.1021/bi0495230 DOI 10.1021/bi972332v http://dx.doi.org/10.1021/bi972332v DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/76102 http://dx.doi.org/10.1038/76102 DOI 10.1038/nature03187 http://dx.doi.org/10.1038/nature03187 DOI 10.1038/nature07485 http://dx.doi.org/10.1038/nature07485 DOI 10.1073/pnas.100041297 http://dx.doi.org/10.1073/pnas.100041297 DOI 10.1074/jbc.272.38.23623 http://dx.doi.org/10.1074/jbc.272.38.23623 DOI 10.1074/jbc.272.42.26479 http://dx.doi.org/10.1074/jbc.272.42.26479 DOI 10.1074/jbc.M010008200 http://dx.doi.org/10.1074/jbc.M010008200 DOI 10.1074/jbc.M011246200 http://dx.doi.org/10.1074/jbc.M011246200 DOI 10.1074/jbc.M403832200 http://dx.doi.org/10.1074/jbc.M403832200 DOI 10.1074/jbc.M510143200 http://dx.doi.org/10.1074/jbc.M510143200 DOI 10.1097/00008571-200103000-00008 http://dx.doi.org/10.1097/00008571-200103000-00008 DOI 10.1126/science.1360704 http://dx.doi.org/10.1126/science.1360704 DOI 10.1126/science.8098549 http://dx.doi.org/10.1126/science.8098549 DOI 10.1126/scisignal.2000007 http://dx.doi.org/10.1126/scisignal.2000007 DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 DOI 10.1126/scisignal.2001570 http://dx.doi.org/10.1126/scisignal.2001570 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DrugBank DB00091 http://www.drugbank.ca/drugs/DB00091 DrugBank DB00143 http://www.drugbank.ca/drugs/DB00143 DrugBank DB00199 http://www.drugbank.ca/drugs/DB00199 DrugBank DB00224 http://www.drugbank.ca/drugs/DB00224 DrugBank DB00286 http://www.drugbank.ca/drugs/DB00286 DrugBank DB00328 http://www.drugbank.ca/drugs/DB00328 DrugBank DB00345 http://www.drugbank.ca/drugs/DB00345 DrugBank DB00396 http://www.drugbank.ca/drugs/DB00396 DrugBank DB00399 http://www.drugbank.ca/drugs/DB00399 DrugBank DB00445 http://www.drugbank.ca/drugs/DB00445 DrugBank DB00503 http://www.drugbank.ca/drugs/DB00503 DrugBank DB00541 http://www.drugbank.ca/drugs/DB00541 DrugBank DB00563 http://www.drugbank.ca/drugs/DB00563 DrugBank DB00570 http://www.drugbank.ca/drugs/DB00570 DrugBank DB00586 http://www.drugbank.ca/drugs/DB00586 DrugBank DB00602 http://www.drugbank.ca/drugs/DB00602 DrugBank DB00661 http://www.drugbank.ca/drugs/DB00661 DrugBank DB00693 http://www.drugbank.ca/drugs/DB00693 DrugBank DB00694 http://www.drugbank.ca/drugs/DB00694 DrugBank DB00701 http://www.drugbank.ca/drugs/DB00701 DrugBank DB00709 http://www.drugbank.ca/drugs/DB00709 DrugBank DB00762 http://www.drugbank.ca/drugs/DB00762 DrugBank DB00773 http://www.drugbank.ca/drugs/DB00773 DrugBank DB00834 http://www.drugbank.ca/drugs/DB00834 DrugBank DB00970 http://www.drugbank.ca/drugs/DB00970 DrugBank DB00997 http://www.drugbank.ca/drugs/DB00997 DrugBank DB01016 http://www.drugbank.ca/drugs/DB01016 DrugBank DB01032 http://www.drugbank.ca/drugs/DB01032 DrugBank DB01045 http://www.drugbank.ca/drugs/DB01045 DrugBank DB01050 http://www.drugbank.ca/drugs/DB01050 DrugBank DB01072 http://www.drugbank.ca/drugs/DB01072 DrugBank DB01076 http://www.drugbank.ca/drugs/DB01076 DrugBank DB01098 http://www.drugbank.ca/drugs/DB01098 DrugBank DB01138 http://www.drugbank.ca/drugs/DB01138 DrugBank DB01165 http://www.drugbank.ca/drugs/DB01165 DrugBank DB01174 http://www.drugbank.ca/drugs/DB01174 DrugBank DB01177 http://www.drugbank.ca/drugs/DB01177 DrugBank DB01204 http://www.drugbank.ca/drugs/DB01204 DrugBank DB01229 http://www.drugbank.ca/drugs/DB01229 DrugBank DB01232 http://www.drugbank.ca/drugs/DB01232 DrugBank DB01248 http://www.drugbank.ca/drugs/DB01248 DrugBank DB01394 http://www.drugbank.ca/drugs/DB01394 DrugBank DB02659 http://www.drugbank.ca/drugs/DB02659 DrugBank DB05294 http://www.drugbank.ca/drugs/DB05294 DrugBank DB05812 http://www.drugbank.ca/drugs/DB05812 DrugBank DB06335 http://www.drugbank.ca/drugs/DB06335 DrugBank DB08881 http://www.drugbank.ca/drugs/DB08881 EMBL AB209120 http://www.ebi.ac.uk/ena/data/view/AB209120 EMBL AC003026 http://www.ebi.ac.uk/ena/data/view/AC003026 EMBL AC025778 http://www.ebi.ac.uk/ena/data/view/AC025778 EMBL AC130651 http://www.ebi.ac.uk/ena/data/view/AC130651 EMBL AC136624 http://www.ebi.ac.uk/ena/data/view/AC136624 EMBL AF022824 http://www.ebi.ac.uk/ena/data/view/AF022824 EMBL AF022824 http://www.ebi.ac.uk/ena/data/view/AF022824 EMBL AF022824 http://www.ebi.ac.uk/ena/data/view/AF022824 EMBL AF022824 http://www.ebi.ac.uk/ena/data/view/AF022824 EMBL AF022825 http://www.ebi.ac.uk/ena/data/view/AF022825 EMBL AF022825 http://www.ebi.ac.uk/ena/data/view/AF022825 EMBL AF022825 http://www.ebi.ac.uk/ena/data/view/AF022825 EMBL AF022825 http://www.ebi.ac.uk/ena/data/view/AF022825 EMBL AF022826 http://www.ebi.ac.uk/ena/data/view/AF022826 EMBL AF022826 http://www.ebi.ac.uk/ena/data/view/AF022826 EMBL AF022826 http://www.ebi.ac.uk/ena/data/view/AF022826 EMBL AF022826 http://www.ebi.ac.uk/ena/data/view/AF022826 EMBL AF022827 http://www.ebi.ac.uk/ena/data/view/AF022827 EMBL AF022827 http://www.ebi.ac.uk/ena/data/view/AF022827 EMBL AF022827 http://www.ebi.ac.uk/ena/data/view/AF022827 EMBL AF022827 http://www.ebi.ac.uk/ena/data/view/AF022827 EMBL AF022828 http://www.ebi.ac.uk/ena/data/view/AF022828 EMBL AF022828 http://www.ebi.ac.uk/ena/data/view/AF022828 EMBL AF022828 http://www.ebi.ac.uk/ena/data/view/AF022828 EMBL AF022828 http://www.ebi.ac.uk/ena/data/view/AF022828 EMBL AF022829 http://www.ebi.ac.uk/ena/data/view/AF022829 EMBL AF022829 http://www.ebi.ac.uk/ena/data/view/AF022829 EMBL AF022829 http://www.ebi.ac.uk/ena/data/view/AF022829 EMBL AF022829 http://www.ebi.ac.uk/ena/data/view/AF022829 EMBL AF022830 http://www.ebi.ac.uk/ena/data/view/AF022830 EMBL AF022830 http://www.ebi.ac.uk/ena/data/view/AF022830 EMBL AF022830 http://www.ebi.ac.uk/ena/data/view/AF022830 EMBL AF022830 http://www.ebi.ac.uk/ena/data/view/AF022830 EMBL AF022831 http://www.ebi.ac.uk/ena/data/view/AF022831 EMBL AF022831 http://www.ebi.ac.uk/ena/data/view/AF022831 EMBL AF022831 http://www.ebi.ac.uk/ena/data/view/AF022831 EMBL AF022831 http://www.ebi.ac.uk/ena/data/view/AF022831 EMBL AF022832 http://www.ebi.ac.uk/ena/data/view/AF022832 EMBL AF022832 http://www.ebi.ac.uk/ena/data/view/AF022832 EMBL AF022832 http://www.ebi.ac.uk/ena/data/view/AF022832 EMBL AF022832 http://www.ebi.ac.uk/ena/data/view/AF022832 EMBL AF022833 http://www.ebi.ac.uk/ena/data/view/AF022833 EMBL AF022833 http://www.ebi.ac.uk/ena/data/view/AF022833 EMBL AF022833 http://www.ebi.ac.uk/ena/data/view/AF022833 EMBL AF022833 http://www.ebi.ac.uk/ena/data/view/AF022833 EMBL AF022834 http://www.ebi.ac.uk/ena/data/view/AF022834 EMBL AF022834 http://www.ebi.ac.uk/ena/data/view/AF022834 EMBL AF022834 http://www.ebi.ac.uk/ena/data/view/AF022834 EMBL AF022834 http://www.ebi.ac.uk/ena/data/view/AF022834 EMBL AF022835 http://www.ebi.ac.uk/ena/data/view/AF022835 EMBL AF022835 http://www.ebi.ac.uk/ena/data/view/AF022835 EMBL AF022835 http://www.ebi.ac.uk/ena/data/view/AF022835 EMBL AF022835 http://www.ebi.ac.uk/ena/data/view/AF022835 EMBL AF022836 http://www.ebi.ac.uk/ena/data/view/AF022836 EMBL AF022836 http://www.ebi.ac.uk/ena/data/view/AF022836 EMBL AF022836 http://www.ebi.ac.uk/ena/data/view/AF022836 EMBL AF022836 http://www.ebi.ac.uk/ena/data/view/AF022836 EMBL AF022837 http://www.ebi.ac.uk/ena/data/view/AF022837 EMBL AF022837 http://www.ebi.ac.uk/ena/data/view/AF022837 EMBL AF022837 http://www.ebi.ac.uk/ena/data/view/AF022837 EMBL AF022837 http://www.ebi.ac.uk/ena/data/view/AF022837 EMBL AF022838 http://www.ebi.ac.uk/ena/data/view/AF022838 EMBL AF022838 http://www.ebi.ac.uk/ena/data/view/AF022838 EMBL AF022838 http://www.ebi.ac.uk/ena/data/view/AF022838 EMBL AF022838 http://www.ebi.ac.uk/ena/data/view/AF022838 EMBL AF022839 http://www.ebi.ac.uk/ena/data/view/AF022839 EMBL AF022839 http://www.ebi.ac.uk/ena/data/view/AF022839 EMBL AF022839 http://www.ebi.ac.uk/ena/data/view/AF022839 EMBL AF022840 http://www.ebi.ac.uk/ena/data/view/AF022840 EMBL AF022840 http://www.ebi.ac.uk/ena/data/view/AF022840 EMBL AF022840 http://www.ebi.ac.uk/ena/data/view/AF022840 EMBL AF022841 http://www.ebi.ac.uk/ena/data/view/AF022841 EMBL AF022841 http://www.ebi.ac.uk/ena/data/view/AF022841 EMBL AF022841 http://www.ebi.ac.uk/ena/data/view/AF022841 EMBL AF022841 http://www.ebi.ac.uk/ena/data/view/AF022841 EMBL AF022842 http://www.ebi.ac.uk/ena/data/view/AF022842 EMBL AF022842 http://www.ebi.ac.uk/ena/data/view/AF022842 EMBL AF022842 http://www.ebi.ac.uk/ena/data/view/AF022842 EMBL AF022842 http://www.ebi.ac.uk/ena/data/view/AF022842 EMBL AF022843 http://www.ebi.ac.uk/ena/data/view/AF022843 EMBL AF022843 http://www.ebi.ac.uk/ena/data/view/AF022843 EMBL AF022843 http://www.ebi.ac.uk/ena/data/view/AF022843 EMBL AF022843 http://www.ebi.ac.uk/ena/data/view/AF022843 EMBL AF022844 http://www.ebi.ac.uk/ena/data/view/AF022844 EMBL AF022844 http://www.ebi.ac.uk/ena/data/view/AF022844 EMBL AF022844 http://www.ebi.ac.uk/ena/data/view/AF022844 EMBL AF022844 http://www.ebi.ac.uk/ena/data/view/AF022844 EMBL AF022845 http://www.ebi.ac.uk/ena/data/view/AF022845 EMBL AF022845 http://www.ebi.ac.uk/ena/data/view/AF022845 EMBL AF022845 http://www.ebi.ac.uk/ena/data/view/AF022845 EMBL AF022845 http://www.ebi.ac.uk/ena/data/view/AF022845 EMBL AF022846 http://www.ebi.ac.uk/ena/data/view/AF022846 EMBL AF022846 http://www.ebi.ac.uk/ena/data/view/AF022846 EMBL AF022846 http://www.ebi.ac.uk/ena/data/view/AF022846 EMBL AF022846 http://www.ebi.ac.uk/ena/data/view/AF022846 EMBL AF022847 http://www.ebi.ac.uk/ena/data/view/AF022847 EMBL AF022847 http://www.ebi.ac.uk/ena/data/view/AF022847 EMBL AF022847 http://www.ebi.ac.uk/ena/data/view/AF022847 EMBL AF022847 http://www.ebi.ac.uk/ena/data/view/AF022847 EMBL AF022848 http://www.ebi.ac.uk/ena/data/view/AF022848 EMBL AF022848 http://www.ebi.ac.uk/ena/data/view/AF022848 EMBL AF022848 http://www.ebi.ac.uk/ena/data/view/AF022848 EMBL AF022848 http://www.ebi.ac.uk/ena/data/view/AF022848 EMBL AF022849 http://www.ebi.ac.uk/ena/data/view/AF022849 EMBL AF022849 http://www.ebi.ac.uk/ena/data/view/AF022849 EMBL AF022849 http://www.ebi.ac.uk/ena/data/view/AF022849 EMBL AF022849 http://www.ebi.ac.uk/ena/data/view/AF022849 EMBL AF022850 http://www.ebi.ac.uk/ena/data/view/AF022850 EMBL AF022850 http://www.ebi.ac.uk/ena/data/view/AF022850 EMBL AF022850 http://www.ebi.ac.uk/ena/data/view/AF022850 EMBL AF022850 http://www.ebi.ac.uk/ena/data/view/AF022850 EMBL AF022851 http://www.ebi.ac.uk/ena/data/view/AF022851 EMBL AF022851 http://www.ebi.ac.uk/ena/data/view/AF022851 EMBL AF022851 http://www.ebi.ac.uk/ena/data/view/AF022851 EMBL AF022851 http://www.ebi.ac.uk/ena/data/view/AF022851 EMBL AF022852 http://www.ebi.ac.uk/ena/data/view/AF022852 EMBL AF022852 http://www.ebi.ac.uk/ena/data/view/AF022852 EMBL AF022852 http://www.ebi.ac.uk/ena/data/view/AF022852 EMBL AF022853 http://www.ebi.ac.uk/ena/data/view/AF022853 EMBL AF022853 http://www.ebi.ac.uk/ena/data/view/AF022853 EMBL AF022853 http://www.ebi.ac.uk/ena/data/view/AF022853 EMBL AF022853 http://www.ebi.ac.uk/ena/data/view/AF022853 EMBL EF419769 http://www.ebi.ac.uk/ena/data/view/EF419769 EMBL L05628 http://www.ebi.ac.uk/ena/data/view/L05628 EMBL U91318 http://www.ebi.ac.uk/ena/data/view/U91318 Ensembl ENST00000399410 http://www.ensembl.org/id/ENST00000399410 Ensembl ENST00000621144 http://www.ensembl.org/id/ENST00000621144 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016323 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0005215 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005215 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0015420 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015420 GO_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GO_function GO:0042626 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042626 GO_function GO:0043225 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043225 GO_process GO:0006691 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006691 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0009235 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009235 GO_process GO:0042493 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042493 GO_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006629 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006629 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 3.40.50.300 http://www.cathdb.info/version/latest/superfamily/3.40.50.300 GeneCards ABCC1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ABCC1 GeneID 4363 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=4363 GeneTree ENSGT00860000133722 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00860000133722 H-InvDB HIX0134370 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0134370 HGNC HGNC:51 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:51 HOVERGEN HBG108314 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG108314&db=HOVERGEN HPA HPA002380 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA002380 InParanoid P33527 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P33527 IntAct P33527 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P33527* InterPro IPR003439 http://www.ebi.ac.uk/interpro/entry/IPR003439 InterPro IPR003593 http://www.ebi.ac.uk/interpro/entry/IPR003593 InterPro IPR005292 http://www.ebi.ac.uk/interpro/entry/IPR005292 InterPro IPR011527 http://www.ebi.ac.uk/interpro/entry/IPR011527 InterPro IPR017871 http://www.ebi.ac.uk/interpro/entry/IPR017871 InterPro IPR027417 http://www.ebi.ac.uk/interpro/entry/IPR027417 InterPro IPR030241 http://www.ebi.ac.uk/interpro/entry/IPR030241 Jabion 4363 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=4363 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Gene hsa:4363 http://www.genome.jp/dbget-bin/www_bget?hsa:4363 KEGG_Orthology KO:K05665 http://www.genome.jp/dbget-bin/www_bget?KO:K05665 KEGG_Pathway ko02010 http://www.genome.jp/kegg-bin/show_pathway?ko02010 KEGG_Pathway ko04977 http://www.genome.jp/kegg-bin/show_pathway?ko04977 MIM 158343 http://www.ncbi.nlm.nih.gov/omim/158343 MINT MINT-2802626 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-2802626 OMA MFSGPQI http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=MFSGPQI OrthoDB EOG091G00IN http://cegg.unige.ch/orthodb/results?searchtext=EOG091G00IN PANTHER PTHR24223:SF241 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24223:SF241 PDB 2CBZ http://www.ebi.ac.uk/pdbe-srv/view/entry/2CBZ PDB 4C3Z http://www.ebi.ac.uk/pdbe-srv/view/entry/4C3Z PDBsum 2CBZ http://www.ebi.ac.uk/pdbsum/2CBZ PDBsum 4C3Z http://www.ebi.ac.uk/pdbsum/4C3Z PROSITE PS00211 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00211 PROSITE PS50893 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50893 PROSITE PS50929 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50929 PSORT swissprot:MRP1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:MRP1_HUMAN PSORT-B swissprot:MRP1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:MRP1_HUMAN PSORT2 swissprot:MRP1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:MRP1_HUMAN Pfam PF00005 http://pfam.xfam.org/family/PF00005 Pfam PF00664 http://pfam.xfam.org/family/PF00664 PharmGKB PA244 http://www.pharmgkb.org/do/serve?objId=PA244&objCls=Gene Phobius swissprot:MRP1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:MRP1_HUMAN PhylomeDB P33527 http://phylomedb.org/?seqid=P33527 ProteinModelPortal P33527 http://www.proteinmodelportal.org/query/uniprot/P33527 PubMed 10064732 http://www.ncbi.nlm.nih.gov/pubmed/10064732 PubMed 10493829 http://www.ncbi.nlm.nih.gov/pubmed/10493829 PubMed 10811882 http://www.ncbi.nlm.nih.gov/pubmed/10811882 PubMed 10835642 http://www.ncbi.nlm.nih.gov/pubmed/10835642 PubMed 11114332 http://www.ncbi.nlm.nih.gov/pubmed/11114332 PubMed 11139250 http://www.ncbi.nlm.nih.gov/pubmed/11139250 PubMed 11266082 http://www.ncbi.nlm.nih.gov/pubmed/11266082 PubMed 11278596 http://www.ncbi.nlm.nih.gov/pubmed/11278596 PubMed 11278867 http://www.ncbi.nlm.nih.gov/pubmed/11278867 PubMed 11469806 http://www.ncbi.nlm.nih.gov/pubmed/11469806 PubMed 11721885 http://www.ncbi.nlm.nih.gov/pubmed/11721885 PubMed 1360704 http://www.ncbi.nlm.nih.gov/pubmed/1360704 PubMed 15208328 http://www.ncbi.nlm.nih.gov/pubmed/15208328 PubMed 15260484 http://www.ncbi.nlm.nih.gov/pubmed/15260484 PubMed 15616553 http://www.ncbi.nlm.nih.gov/pubmed/15616553 PubMed 16230346 http://www.ncbi.nlm.nih.gov/pubmed/16230346 PubMed 16697012 http://www.ncbi.nlm.nih.gov/pubmed/16697012 PubMed 17081983 http://www.ncbi.nlm.nih.gov/pubmed/17081983 PubMed 18691976 http://www.ncbi.nlm.nih.gov/pubmed/18691976 PubMed 18987736 http://www.ncbi.nlm.nih.gov/pubmed/18987736 PubMed 19413330 http://www.ncbi.nlm.nih.gov/pubmed/19413330 PubMed 19690332 http://www.ncbi.nlm.nih.gov/pubmed/19690332 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 21406692 http://www.ncbi.nlm.nih.gov/pubmed/21406692 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 8098549 http://www.ncbi.nlm.nih.gov/pubmed/8098549 PubMed 9295302 http://www.ncbi.nlm.nih.gov/pubmed/9295302 PubMed 9334225 http://www.ncbi.nlm.nih.gov/pubmed/9334225 PubMed 9344662 http://www.ncbi.nlm.nih.gov/pubmed/9344662 PubMed 9485377 http://www.ncbi.nlm.nih.gov/pubmed/9485377 Reactome R-HSA-196741 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-196741 Reactome R-HSA-2142691 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2142691 Reactome R-HSA-382556 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-382556 RefSeq NP_004987 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004987 SMART SM00382 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00382 SMR P33527 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P33527 STRING 9606.ENSP00000382342 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000382342&targetmode=cogs SUPFAM SSF52540 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52540 SUPFAM SSF90123 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF90123 TCDB 3.A.1.208 http://www.tcdb.org/search/result.php?tc=3.A.1.208 TIGRFAMs TIGR00957 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00957 UCSC uc010bvi http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc010bvi&org=rat UniGene Hs.391464 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.391464 UniProtKB MRP1_HUMAN http://www.uniprot.org/uniprot/MRP1_HUMAN UniProtKB-AC P33527 http://www.uniprot.org/uniprot/P33527 charge swissprot:MRP1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:MRP1_HUMAN eggNOG COG1132 http://eggnogapi.embl.de/nog_data/html/tree/COG1132 eggNOG KOG0054 http://eggnogapi.embl.de/nog_data/html/tree/KOG0054 epestfind swissprot:MRP1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:MRP1_HUMAN garnier swissprot:MRP1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:MRP1_HUMAN helixturnhelix swissprot:MRP1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:MRP1_HUMAN hmoment swissprot:MRP1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:MRP1_HUMAN iep swissprot:MRP1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:MRP1_HUMAN inforesidue swissprot:MRP1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:MRP1_HUMAN neXtProt NX_P33527 http://www.nextprot.org/db/entry/NX_P33527 octanol swissprot:MRP1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:MRP1_HUMAN pepcoil swissprot:MRP1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:MRP1_HUMAN pepdigest swissprot:MRP1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:MRP1_HUMAN pepinfo swissprot:MRP1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:MRP1_HUMAN pepnet swissprot:MRP1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:MRP1_HUMAN pepstats swissprot:MRP1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:MRP1_HUMAN pepwheel swissprot:MRP1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:MRP1_HUMAN pepwindow swissprot:MRP1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:MRP1_HUMAN sigcleave swissprot:MRP1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:MRP1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS DEN5A_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q6IQ26-1; Sequence=Displayed; Name=2; IsoId=Q6IQ26-2; Sequence=VSP_044688; Note=No experimental confirmation available.; # AltName DEN5A_HUMAN Rab6-interacting protein 1 # BioGrid 116861 5 # CCDS CCDS31423 -. [Q6IQ26-1] # CCDS CCDS58119 -. [Q6IQ26-2] # ChiTaRS DENND5A human # Ensembl ENST00000328194 ENSP00000328524; ENSG00000184014. [Q6IQ26-1] # Ensembl ENST00000530044 ENSP00000435866; ENSG00000184014. [Q6IQ26-2] # ExpressionAtlas Q6IQ26 baseline and differential # FUNCTION DEN5A_HUMAN Guanine nucleotide exchange factor (GEF) which may activate RAB6A and RAB39A and/or RAB39B. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form. {ECO 0000269|PubMed 20937701}. # GO_component GO:0005802 trans-Golgi network; IDA:UniProtKB. # GO_component GO:0005829 cytosol; IEA:GOC. # GO_function GO:0005262 calcium channel activity; IBA:GO_Central. # GO_function GO:0017112 Rab guanyl-nucleotide exchange factor activity; IDA:UniProtKB. # GO_process GO:0042147 retrograde transport, endosome to Golgi; IMP:UniProtKB. # GO_process GO:0050982 detection of mechanical stimulus; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005829 cytosol # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0008150 biological_process # GOslim_process GO:0016192 vesicle-mediated transport # Gene3D 2.60.60.20 -; 1. # Genevisible Q6IQ26 HS # HGNC HGNC:19344 DENND5A # IntAct Q6IQ26 4 # InterPro IPR001024 PLAT/LH2_dom # InterPro IPR001194 DENN_dom # InterPro IPR004012 Run_dom # InterPro IPR005112 dDENN_dom # InterPro IPR005113 uDENN_dom # Organism DEN5A_HUMAN Homo sapiens (Human) # PIR T17242 T17242 # PROSITE PS50095 PLAT # PROSITE PS50211 DENN # PROSITE PS50826 RUN; 2 # PROSITE PS50946 UDENN # PROSITE PS50947 DDENN # Pfam PF01477 PLAT # Pfam PF02141 DENN # Pfam PF02759 RUN; 2 # Pfam PF03455 dDENN # Pfam PF03456 uDENN # Proteomes UP000005640 Chromosome 11 # Reactome R-HSA-8876198 RAB GEFs exchange GTP for GDP on RABs # RecName DEN5A_HUMAN DENN domain-containing protein 5A # RefSeq NP_001230183 NM_001243254.1. [Q6IQ26-2] # RefSeq NP_056028 NM_015213.3. [Q6IQ26-1] # SEQUENCE CAUTION Sequence=BAA83043.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAB15155.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the RAB6IP1 family. {ECO 0000305}. # SIMILARITY Contains 1 DENN domain. {ECO:0000255|PROSITE- ProRule PRU00304}. # SIMILARITY Contains 1 PLAT domain. {ECO:0000255|PROSITE- ProRule PRU00152}. # SIMILARITY Contains 1 dDENN domain. {ECO:0000255|PROSITE- ProRule PRU00306}. # SIMILARITY Contains 1 uDENN domain. {ECO:0000255|PROSITE- ProRule PRU00305}. # SIMILARITY Contains 2 RUN domains. {ECO:0000255|PROSITE- ProRule PRU00178}. # SMART SM00593 RUN; 2 # SMART SM00799 DENN # SMART SM00800 uDENN # SMART SM00801 dDENN # SUBUNIT Probably interacts with RAB6A bound to GTP. {ECO 0000250}. # SUPFAM SSF49723 SSF49723 # UCSC uc001mhl human. [Q6IQ26-1] # eggNOG ENOG410XNYP LUCA # eggNOG KOG2080 Eukaryota BLAST swissprot:DEN5A_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:DEN5A_HUMAN BioCyc ZFISH:G66-32644-MONOMER http://biocyc.org/getid?id=ZFISH:G66-32644-MONOMER COXPRESdb 23258 http://coxpresdb.jp/data/gene/23258.shtml CleanEx HS_DENND5A http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_DENND5A DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature04632 http://dx.doi.org/10.1038/nature04632 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1083/jcb.201008051 http://dx.doi.org/10.1083/jcb.201008051 DOI 10.1093/dnares/6.3.197 http://dx.doi.org/10.1093/dnares/6.3.197 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 EMBL AB029014 http://www.ebi.ac.uk/ena/data/view/AB029014 EMBL AC055845 http://www.ebi.ac.uk/ena/data/view/AC055845 EMBL AC079296 http://www.ebi.ac.uk/ena/data/view/AC079296 EMBL AK025499 http://www.ebi.ac.uk/ena/data/view/AK025499 EMBL AK295881 http://www.ebi.ac.uk/ena/data/view/AK295881 EMBL AL117448 http://www.ebi.ac.uk/ena/data/view/AL117448 EMBL AP006259 http://www.ebi.ac.uk/ena/data/view/AP006259 EMBL BC009354 http://www.ebi.ac.uk/ena/data/view/BC009354 EMBL BC071596 http://www.ebi.ac.uk/ena/data/view/BC071596 Ensembl ENST00000328194 http://www.ensembl.org/id/ENST00000328194 Ensembl ENST00000530044 http://www.ensembl.org/id/ENST00000530044 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005802 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005802 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_function GO:0005262 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005262 GO_function GO:0017112 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0017112 GO_process GO:0042147 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042147 GO_process GO:0050982 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050982 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0016192 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016192 Gene3D 2.60.60.20 http://www.cathdb.info/version/latest/superfamily/2.60.60.20 GeneCards DENND5A http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=DENND5A GeneID 23258 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=23258 GeneTree ENSGT00760000118819 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118819 H-InvDB HIX0009434 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0009434 HGNC HGNC:19344 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:19344 HOGENOM HOG000019389 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000019389&db=HOGENOM6 HOVERGEN HBG059906 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG059906&db=HOVERGEN HPA HPA052923 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA052923 HPA HPA055009 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA055009 InParanoid Q6IQ26 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q6IQ26 IntAct Q6IQ26 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q6IQ26* InterPro IPR001024 http://www.ebi.ac.uk/interpro/entry/IPR001024 InterPro IPR001194 http://www.ebi.ac.uk/interpro/entry/IPR001194 InterPro IPR004012 http://www.ebi.ac.uk/interpro/entry/IPR004012 InterPro IPR005112 http://www.ebi.ac.uk/interpro/entry/IPR005112 InterPro IPR005113 http://www.ebi.ac.uk/interpro/entry/IPR005113 Jabion 23258 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=23258 KEGG_Gene hsa:23258 http://www.genome.jp/dbget-bin/www_bget?hsa:23258 MINT MINT-8247429 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-8247429 OMA AKWLVEC http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=AKWLVEC OrthoDB EOG091G00VU http://cegg.unige.ch/orthodb/results?searchtext=EOG091G00VU PROSITE PS50095 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50095 PROSITE PS50211 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50211 PROSITE PS50826 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50826 PROSITE PS50946 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50946 PROSITE PS50947 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50947 PSORT swissprot:DEN5A_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:DEN5A_HUMAN PSORT-B swissprot:DEN5A_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:DEN5A_HUMAN PSORT2 swissprot:DEN5A_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:DEN5A_HUMAN Pfam PF01477 http://pfam.xfam.org/family/PF01477 Pfam PF02141 http://pfam.xfam.org/family/PF02141 Pfam PF02759 http://pfam.xfam.org/family/PF02759 Pfam PF03455 http://pfam.xfam.org/family/PF03455 Pfam PF03456 http://pfam.xfam.org/family/PF03456 PharmGKB PA164718737 http://www.pharmgkb.org/do/serve?objId=PA164718737&objCls=Gene Phobius swissprot:DEN5A_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:DEN5A_HUMAN PhylomeDB Q6IQ26 http://phylomedb.org/?seqid=Q6IQ26 ProteinModelPortal Q6IQ26 http://www.proteinmodelportal.org/query/uniprot/Q6IQ26 PubMed 10470851 http://www.ncbi.nlm.nih.gov/pubmed/10470851 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16554811 http://www.ncbi.nlm.nih.gov/pubmed/16554811 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 20937701 http://www.ncbi.nlm.nih.gov/pubmed/20937701 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 Reactome R-HSA-8876198 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-8876198 RefSeq NP_001230183 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001230183 RefSeq NP_056028 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_056028 SMART SM00593 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00593 SMART SM00799 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00799 SMART SM00800 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00800 SMART SM00801 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00801 SMR Q6IQ26 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q6IQ26 STRING 9606.ENSP00000328524 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000328524&targetmode=cogs SUPFAM SSF49723 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF49723 UCSC uc001mhl http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001mhl&org=rat UniGene Hs.501857 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.501857 UniProtKB DEN5A_HUMAN http://www.uniprot.org/uniprot/DEN5A_HUMAN UniProtKB-AC Q6IQ26 http://www.uniprot.org/uniprot/Q6IQ26 charge swissprot:DEN5A_HUMAN http://rest.g-language.org/emboss/charge/swissprot:DEN5A_HUMAN eggNOG ENOG410XNYP http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XNYP eggNOG KOG2080 http://eggnogapi.embl.de/nog_data/html/tree/KOG2080 epestfind swissprot:DEN5A_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:DEN5A_HUMAN garnier swissprot:DEN5A_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:DEN5A_HUMAN helixturnhelix swissprot:DEN5A_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:DEN5A_HUMAN hmoment swissprot:DEN5A_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:DEN5A_HUMAN iep swissprot:DEN5A_HUMAN http://rest.g-language.org/emboss/iep/swissprot:DEN5A_HUMAN inforesidue swissprot:DEN5A_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:DEN5A_HUMAN neXtProt NX_Q6IQ26 http://www.nextprot.org/db/entry/NX_Q6IQ26 octanol swissprot:DEN5A_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:DEN5A_HUMAN pepcoil swissprot:DEN5A_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:DEN5A_HUMAN pepdigest swissprot:DEN5A_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:DEN5A_HUMAN pepinfo swissprot:DEN5A_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:DEN5A_HUMAN pepnet swissprot:DEN5A_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:DEN5A_HUMAN pepstats swissprot:DEN5A_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:DEN5A_HUMAN pepwheel swissprot:DEN5A_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:DEN5A_HUMAN pepwindow swissprot:DEN5A_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:DEN5A_HUMAN sigcleave swissprot:DEN5A_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:DEN5A_HUMAN ## Database ID URL or Descriptions # BioGrid 106994 174 # CATALYTIC ACTIVITY ATPB_HUMAN ATP + H(2)O + H(+)(In) = ADP + phosphate + H(+)(Out). # ChiTaRS ATP5B human # Ensembl ENST00000262030 ENSP00000262030; ENSG00000110955 # ExpressionAtlas P06576 baseline and differential # FUNCTION ATPB_HUMAN Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Subunits alpha and beta form the catalytic core in F(1). Rotation of the central stalk against the surrounding alpha(3)beta(3) subunits leads to hydrolysis of ATP in three separate catalytic sites on the beta subunits. # GO_component GO:0005634 nucleus; IDA:UniProtKB. # GO_component GO:0005739 mitochondrion; IDA:UniProtKB. # GO_component GO:0005753 mitochondrial proton-transporting ATP synthase complex; IDA:UniProtKB. # GO_component GO:0005754 mitochondrial proton-transporting ATP synthase, catalytic core; NAS:UniProtKB. # GO_component GO:0005759 mitochondrial matrix; NAS:UniProtKB. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0009986 cell surface; IDA:UniProtKB. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0031012 extracellular matrix; IDA:BHF-UCL. # GO_component GO:0031966 mitochondrial membrane; IDA:UniProtKB. # GO_component GO:0042645 mitochondrial nucleoid; IDA:BHF-UCL. # GO_component GO:0043209 myelin sheath; IEA:Ensembl. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0005215 transporter activity; NAS:UniProtKB. # GO_function GO:0005524 ATP binding; IEA:UniProtKB-KW. # GO_function GO:0022857 transmembrane transporter activity; IC:UniProtKB. # GO_function GO:0042288 MHC class I protein binding; IDA:UniProtKB. # GO_function GO:0046933 proton-transporting ATP synthase activity, rotational mechanism; IEA:InterPro. # GO_function GO:0046961 proton-transporting ATPase activity, rotational mechanism; IMP:UniProtKB. # GO_process GO:0001525 angiogenesis; IMP:UniProtKB. # GO_process GO:0001649 osteoblast differentiation; IDA:UniProtKB. # GO_process GO:0006091 generation of precursor metabolites and energy; NAS:UniProtKB. # GO_process GO:0006629 lipid metabolic process; IEA:Ensembl. # GO_process GO:0006754 ATP biosynthetic process; IMP:UniProtKB. # GO_process GO:0006933 negative regulation of cell adhesion involved in substrate-bound cell migration; IEA:Ensembl. # GO_process GO:0007005 mitochondrion organization; TAS:Reactome. # GO_process GO:0015992 proton transport; IMP:UniProtKB. # GO_process GO:0042776 mitochondrial ATP synthesis coupled proton transport; IC:UniProtKB. # GO_process GO:0051453 regulation of intracellular pH; IMP:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005739 mitochondrion # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006091 generation of precursor metabolites and energy # GOslim_process GO:0006629 lipid metabolic process # GOslim_process GO:0006810 transport # GOslim_process GO:0007005 mitochondrion organization # GOslim_process GO:0008150 biological_process # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0030154 cell differentiation # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0044281 small molecule metabolic process # GOslim_process GO:0048646 anatomical structure formation involved in morphogenesis # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.10.1140.10 -; 1. # Gene3D 3.40.50.300 -; 1. # Genevisible P06576 HS # HAMAP MF_01347 ATP_synth_beta_bact # HGNC HGNC:830 ATP5B # INTERACTION ATPB_HUMAN P63104 YWHAZ; NbExp=2; IntAct=EBI-356231, EBI-347088; # IntAct P06576 60 # InterPro IPR000194 ATPase_F1/V1/A1_a/bsu_nucl-bd # InterPro IPR003593 AAA+_ATPase # InterPro IPR004100 ATPase_F1/V1/A1_a/bsu_N # InterPro IPR005722 ATP_synth_F1_bsu # InterPro IPR020003 ATPase_a/bsu_AS # InterPro IPR024034 ATPase_F1/V1_bsu_C # InterPro IPR027417 P-loop_NTPase # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Brite ko01000 Enzymes # KEGG_Pathway ko00190 Oxidative phosphorylation # KEGG_Pathway ko05010 Alzheimer's disease # KEGG_Pathway ko05012 Parkinson's disease # KEGG_Pathway ko05016 Huntington's disease # MIM 102910 gene # Organism ATPB_HUMAN Homo sapiens (Human) # PIR A33370 A33370 # PROSITE PS00152 ATPASE_ALPHA_BETA # Pfam PF00006 ATP-synt_ab # Pfam PF02874 ATP-synt_ab_N # Proteomes UP000005640 Chromosome 12 # Reactome R-HSA-1268020 Mitochondrial protein import # Reactome R-HSA-163210 Formation of ATP by chemiosmotic coupling # Reactome R-HSA-2151201 Transcriptional activation of mitochondrial biogenesis # RecName ATPB_HUMAN ATP synthase subunit beta, mitochondrial # RefSeq NP_001677 NM_001686.3 # SIMILARITY Belongs to the ATPase alpha/beta chains family. {ECO 0000305}. # SMART SM00382 AAA # SUBCELLULAR LOCATION ATPB_HUMAN Mitochondrion. Mitochondrion inner membrane. Note=Peripheral membrane protein. # SUBUNIT ATPB_HUMAN F-type ATPases have 2 components, CF(1) - the catalytic core - and CF(0) - the membrane proton channel. CF(1) has five subunits alpha(3), beta(3), gamma(1), delta(1), epsilon(1). CF(0) has three main subunits a, b and c. Component of an ATP synthase complex composed of ATP5F1, ATP5G1, ATP5E, ATP5H, ATP5I, ATP5J, ATP5J2, MT-ATP6, MT-ATP8, ATP5A1, ATP5B, ATP5D, ATP5C1, ATP5O, ATP5L, USMG5 and MP68. Interacts with PPIF. Interacts with BCL2L1 isoform BCL-X(L); the interaction mediates the association of BCL2L1 isoform BCL-X(L) with the mitochondrial membrane F(1)F(0) ATP synthase and enhances neurons metabolic efficency. Interacts with CLN5 and PPT1. {ECO 0000250|UniProtKB P00829, ECO 0000250|UniProtKB P10719, ECO 0000250|UniProtKB P56480}. # SUPFAM SSF50615 SSF50615 # SUPFAM SSF52540 SSF52540 # TIGRFAMs TIGR01039 atpD # eggNOG COG0055 LUCA # eggNOG KOG1350 Eukaryota BLAST swissprot:ATPB_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ATPB_HUMAN BioCyc ZFISH:HS03358-MONOMER http://biocyc.org/getid?id=ZFISH:HS03358-MONOMER COG COG0055 http://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=COG0055 COXPRESdb 506 http://coxpresdb.jp/data/gene/506.shtml CleanEx HS_ATP5B http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ATP5B DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1007/BF00434661 http://dx.doi.org/10.1007/BF00434661 DOI 10.1016/0888-7543(89)90125-0 http://dx.doi.org/10.1016/0888-7543(89)90125-0 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1042/BJ20040647 http://dx.doi.org/10.1042/BJ20040647 DOI 10.1073/pnas.0908958106 http://dx.doi.org/10.1073/pnas.0908958106 DOI 10.1073/pnas.1503696112 http://dx.doi.org/10.1073/pnas.1503696112 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1175371 http://dx.doi.org/10.1126/science.1175371 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EC_number EC:3.6.3.14 http://www.genome.jp/dbget-bin/www_bget?EC:3.6.3.14 EMBL AK291085 http://www.ebi.ac.uk/ena/data/view/AK291085 EMBL BC016512 http://www.ebi.ac.uk/ena/data/view/BC016512 EMBL CH471054 http://www.ebi.ac.uk/ena/data/view/CH471054 EMBL D00022 http://www.ebi.ac.uk/ena/data/view/D00022 EMBL M19482 http://www.ebi.ac.uk/ena/data/view/M19482 EMBL M19483 http://www.ebi.ac.uk/ena/data/view/M19483 EMBL M27132 http://www.ebi.ac.uk/ena/data/view/M27132 EMBL X03559 http://www.ebi.ac.uk/ena/data/view/X03559 EMBL X05606 http://www.ebi.ac.uk/ena/data/view/X05606 ENZYME 3.6.3.14 http://enzyme.expasy.org/EC/3.6.3.14 Ensembl ENST00000262030 http://www.ensembl.org/id/ENST00000262030 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005753 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005753 GO_component GO:0005754 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005754 GO_component GO:0005759 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005759 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0009986 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009986 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0031012 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031012 GO_component GO:0031966 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031966 GO_component GO:0042645 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042645 GO_component GO:0043209 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043209 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0005215 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005215 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GO_function GO:0042288 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042288 GO_function GO:0046933 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046933 GO_function GO:0046961 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046961 GO_process GO:0001525 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001525 GO_process GO:0001649 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001649 GO_process GO:0006091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006091 GO_process GO:0006629 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006629 GO_process GO:0006754 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006754 GO_process GO:0006933 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006933 GO_process GO:0007005 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007005 GO_process GO:0015992 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015992 GO_process GO:0042776 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042776 GO_process GO:0051453 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051453 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006091 GOslim_process GO:0006629 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006629 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007005 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007005 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0030154 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030154 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GOslim_process GO:0048646 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048646 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.10.1140.10 http://www.cathdb.info/version/latest/superfamily/1.10.1140.10 Gene3D 3.40.50.300 http://www.cathdb.info/version/latest/superfamily/3.40.50.300 GeneCards ATP5B http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ATP5B GeneID 506 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=506 GeneTree ENSGT00550000074800 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074800 HAMAP MF_01347 http://hamap.expasy.org/unirule/MF_01347 HGNC HGNC:830 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:830 HOGENOM HOG000009605 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000009605&db=HOGENOM6 HOVERGEN HBG004307 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG004307&db=HOVERGEN HPA CAB017527 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB017527 HPA HPA001520 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA001520 HPA HPA001528 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA001528 InParanoid P06576 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P06576 IntAct P06576 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P06576* IntEnz 3.6.3.14 http://www.ebi.ac.uk/intenz/query?cmd=Search&q=3.6.3.14 InterPro IPR000194 http://www.ebi.ac.uk/interpro/entry/IPR000194 InterPro IPR003593 http://www.ebi.ac.uk/interpro/entry/IPR003593 InterPro IPR004100 http://www.ebi.ac.uk/interpro/entry/IPR004100 InterPro IPR005722 http://www.ebi.ac.uk/interpro/entry/IPR005722 InterPro IPR020003 http://www.ebi.ac.uk/interpro/entry/IPR020003 InterPro IPR024034 http://www.ebi.ac.uk/interpro/entry/IPR024034 InterPro IPR027417 http://www.ebi.ac.uk/interpro/entry/IPR027417 Jabion 506 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=506 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00002 http://www.genome.jp/dbget-bin/www_bget?ko00002 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Gene hsa:506 http://www.genome.jp/dbget-bin/www_bget?hsa:506 KEGG_Orthology KO:K02133 http://www.genome.jp/dbget-bin/www_bget?KO:K02133 KEGG_Pathway ko00190 http://www.genome.jp/kegg-bin/show_pathway?ko00190 KEGG_Pathway ko05010 http://www.genome.jp/kegg-bin/show_pathway?ko05010 KEGG_Pathway ko05012 http://www.genome.jp/kegg-bin/show_pathway?ko05012 KEGG_Pathway ko05016 http://www.genome.jp/kegg-bin/show_pathway?ko05016 MIM 102910 http://www.ncbi.nlm.nih.gov/omim/102910 MINT MINT-5004016 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-5004016 OMA AEFGIYP http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=AEFGIYP OrthoDB EOG091G0KVV http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0KVV PROSITE PS00152 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00152 PSORT swissprot:ATPB_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ATPB_HUMAN PSORT-B swissprot:ATPB_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ATPB_HUMAN PSORT2 swissprot:ATPB_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ATPB_HUMAN Pfam PF00006 http://pfam.xfam.org/family/PF00006 Pfam PF02874 http://pfam.xfam.org/family/PF02874 PharmGKB PA25122 http://www.pharmgkb.org/do/serve?objId=PA25122&objCls=Gene Phobius swissprot:ATPB_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ATPB_HUMAN PhylomeDB P06576 http://phylomedb.org/?seqid=P06576 ProteinModelPortal P06576 http://www.proteinmodelportal.org/query/uniprot/P06576 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15242332 http://www.ncbi.nlm.nih.gov/pubmed/15242332 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 19608861 http://www.ncbi.nlm.nih.gov/pubmed/19608861 PubMed 19892738 http://www.ncbi.nlm.nih.gov/pubmed/19892738 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 25787250 http://www.ncbi.nlm.nih.gov/pubmed/25787250 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 2687158 http://www.ncbi.nlm.nih.gov/pubmed/2687158 PubMed 2870059 http://www.ncbi.nlm.nih.gov/pubmed/2870059 PubMed 2896550 http://www.ncbi.nlm.nih.gov/pubmed/2896550 PubMed 2900241 http://www.ncbi.nlm.nih.gov/pubmed/2900241 Reactome R-HSA-1268020 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1268020 Reactome R-HSA-163210 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-163210 Reactome R-HSA-2151201 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2151201 RefSeq NP_001677 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001677 SMART SM00382 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00382 SMR P06576 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P06576 STRING 9606.ENSP00000262030 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000262030&targetmode=cogs STRING COG0055 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=COG0055&targetmode=cogs SUPFAM SSF50615 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF50615 SUPFAM SSF52540 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52540 SWISS-2DPAGE P06576 http://world-2dpage.expasy.org/swiss-2dpage/protein/ac=P06576 TIGRFAMs TIGR01039 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01039 UniGene Hs.406510 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.406510 UniProtKB ATPB_HUMAN http://www.uniprot.org/uniprot/ATPB_HUMAN UniProtKB-AC P06576 http://www.uniprot.org/uniprot/P06576 charge swissprot:ATPB_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ATPB_HUMAN eggNOG COG0055 http://eggnogapi.embl.de/nog_data/html/tree/COG0055 eggNOG KOG1350 http://eggnogapi.embl.de/nog_data/html/tree/KOG1350 epestfind swissprot:ATPB_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ATPB_HUMAN garnier swissprot:ATPB_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ATPB_HUMAN helixturnhelix swissprot:ATPB_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ATPB_HUMAN hmoment swissprot:ATPB_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ATPB_HUMAN iep swissprot:ATPB_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ATPB_HUMAN inforesidue swissprot:ATPB_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ATPB_HUMAN neXtProt NX_P06576 http://www.nextprot.org/db/entry/NX_P06576 octanol swissprot:ATPB_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ATPB_HUMAN pepcoil swissprot:ATPB_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ATPB_HUMAN pepdigest swissprot:ATPB_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ATPB_HUMAN pepinfo swissprot:ATPB_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ATPB_HUMAN pepnet swissprot:ATPB_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ATPB_HUMAN pepstats swissprot:ATPB_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ATPB_HUMAN pepwheel swissprot:ATPB_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ATPB_HUMAN pepwindow swissprot:ATPB_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ATPB_HUMAN sigcleave swissprot:ATPB_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ATPB_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS GBRA2_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P47869-1; Sequence=Displayed; Name=2; IsoId=P47869-2; Sequence=VSP_054277, VSP_054278; Note=No experimental confirmation available.; # AltName GBRA2_HUMAN GABA(A) receptor subunit alpha-2 # CCDS CCDS3471 -. [P47869-1] # ChiTaRS GABRA2 human # DrugBank DB00186 Lorazepam # DrugBank DB00189 Ethchlorvynol # DrugBank DB00228 Enflurane # DrugBank DB00231 Temazepam # DrugBank DB00237 Butabarbital # DrugBank DB00241 Butalbital # DrugBank DB00273 Topiramate # DrugBank DB00292 Etomidate # DrugBank DB00306 Talbutal # DrugBank DB00312 Pentobarbital # DrugBank DB00334 Olanzapine # DrugBank DB00349 Clobazam # DrugBank DB00371 Meprobamate # DrugBank DB00402 Eszopiclone # DrugBank DB00404 Alprazolam # DrugBank DB00418 Secobarbital # DrugBank DB00425 Zolpidem # DrugBank DB00475 Chlordiazepoxide # DrugBank DB00543 Amoxapine # DrugBank DB00546 Adinazolam # DrugBank DB00599 Thiopental # DrugBank DB00628 Clorazepate # DrugBank DB00659 Acamprosate # DrugBank DB00683 Midazolam # DrugBank DB00690 Flurazepam # DrugBank DB00753 Isoflurane # DrugBank DB00794 Primidone # DrugBank DB00801 Halazepam # DrugBank DB00818 Propofol # DrugBank DB00829 Diazepam # DrugBank DB00842 Oxazepam # DrugBank DB00849 Methylphenobarbital # DrugBank DB00897 Triazolam # DrugBank DB00898 Ethanol # DrugBank DB01028 Methoxyflurane # DrugBank DB01049 Ergoloid mesylate # DrugBank DB01068 Clonazepam # DrugBank DB01107 Methyprylon # DrugBank DB01159 Halothane # DrugBank DB01189 Desflurane # DrugBank DB01198 Zopiclone # DrugBank DB01205 Flumazenil # DrugBank DB01215 Estazolam # DrugBank DB01236 Sevoflurane # DrugBank DB01346 Quinidine barbiturate # DrugBank DB01351 Amobarbital # DrugBank DB01352 Aprobarbital # DrugBank DB01353 Butethal # DrugBank DB01354 Heptabarbital # DrugBank DB01355 Hexobarbital # DrugBank DB01437 Glutethimide # DrugBank DB01544 Flunitrazepam # DrugBank DB01558 Bromazepam # DrugBank DB01559 Clotiazepam # DrugBank DB01567 Fludiazepam # DrugBank DB01588 Prazepam # DrugBank DB01589 Quazepam # DrugBank DB01594 Cinolazepam # DrugBank DB01595 Nitrazepam # Ensembl ENST00000356504 ENSP00000348897; ENSG00000151834. [P47869-1] # Ensembl ENST00000381620 ENSP00000371033; ENSG00000151834. [P47869-1] # Ensembl ENST00000510861 ENSP00000421828; ENSG00000151834. [P47869-1] # Ensembl ENST00000514090 ENSP00000421300; ENSG00000151834. [P47869-1] # ExpressionAtlas P47869 baseline and differential # FUNCTION GBRA2_HUMAN GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0030285 integral component of synaptic vesicle membrane; IDA:UniProtKB. # GO_component GO:0030424 axon; IEA:Ensembl. # GO_component GO:0030425 dendrite; IEA:Ensembl. # GO_component GO:0034707 chloride channel complex; IEA:UniProtKB-KW. # GO_component GO:0043025 neuronal cell body; IEA:Ensembl. # GO_component GO:0045211 postsynaptic membrane; IEA:UniProtKB-SubCell. # GO_component GO:0060077 inhibitory synapse; IEA:Ensembl. # GO_component GO:1902711 GABA-A receptor complex; IDA:GO_Central. # GO_function GO:0004890 GABA-A receptor activity; IEA:InterPro. # GO_function GO:0008503 benzodiazepine receptor activity; IMP:UniProtKB. # GO_function GO:0022851 GABA-gated chloride ion channel activity; IDA:GO_Central. # GO_process GO:0001505 regulation of neurotransmitter levels; IMP:UniProtKB. # GO_process GO:0006836 neurotransmitter transport; IMP:UniProtKB. # GO_process GO:0007214 gamma-aminobutyric acid signaling pathway; IMP:UniProtKB. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:1902476 chloride transmembrane transport; IDA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0055085 transmembrane transport # Gene3D 2.70.170.10 -; 1. # Genevisible P47869 HS # HGNC HGNC:4076 GABRA2 # InterPro IPR001390 GABAAa_rcpt # InterPro IPR005432 GABBAa2_rcpt # InterPro IPR006028 GABAA/Glycine_rcpt # InterPro IPR006029 Neurotrans-gated_channel_TM # InterPro IPR006201 Neur_channel # InterPro IPR006202 Neur_chan_lig-bd # InterPro IPR018000 Neurotransmitter_ion_chnl_CS # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04080 Neuroactive ligand-receptor interaction # KEGG_Pathway ko04723 Retrograde endocannabinoid signaling # KEGG_Pathway ko04727 GABAergic synapse # KEGG_Pathway ko05032 Morphine addiction # KEGG_Pathway ko05033 Nicotine addiction # MIM 103780 phenotype # MIM 137140 gene # Organism GBRA2_HUMAN Homo sapiens (Human) # PANTHER PTHR18945 PTHR18945 # PIR I57947 I57947 # POLYMORPHISM Genetic variations in GABRA2 determine the genetic susceptibility to alcoholism [MIM 103780]. # PRINTS PR00252 NRIONCHANNEL # PRINTS PR00253 GABAARECEPTR # PRINTS PR01079 GABAARALPHA # PRINTS PR01615 GABAARALPHA2 # PROSITE PS00236 NEUROTR_ION_CHANNEL # Pfam PF02931 Neur_chan_LBD # Pfam PF02932 Neur_chan_memb # Proteomes UP000005640 Chromosome 4 # Reactome R-HSA-112314 Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell # Reactome R-HSA-975298 Ligand-gated ion channel transport # Reactome R-HSA-977441 GABA A receptor activation # RecName GBRA2_HUMAN Gamma-aminobutyric acid receptor subunit alpha-2 # RefSeq NP_000798 NM_000807.3. [P47869-1] # RefSeq NP_001107647 NM_001114175.2. [P47869-1] # RefSeq NP_001273756 NM_001286827.2. [P47869-2] # RefSeq NP_001317619 NM_001330690.1 # RefSeq XP_016863471 XM_017007982.1. [P47869-1] # RefSeq XP_016863472 XM_017007983.1. [P47869-1] # SEQUENCE CAUTION Sequence=BAD92532.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRA2 sub-subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION GBRA2_HUMAN Cell junction, synapse, postsynaptic cell membrane {ECO 0000250|UniProtKB P26048}; Multi-pass membrane protein {ECO 0000255}. Cell membrane {ECO 0000250|UniProtKB P26048}; Multi-pass membrane protein {ECO 0000255}. Cytoplasmic vesicle membrane {ECO 0000250|UniProtKB P23576}. # SUBUNIT GBRA2_HUMAN Generally pentameric. There are five types of GABA(A) receptor chains alpha, beta, gamma, delta, and rho. Interacts with UBQLN1. Interacts with KIF21B. {ECO 0000250|UniProtKB P23576, ECO 0000250|UniProtKB P26048}. # SUPFAM SSF63712 SSF63712 # SUPFAM SSF90112 SSF90112 # TCDB 1.A.9.5 the neurotransmitter receptor, cys loop, ligand-gated ion channel (lic) family # TIGRFAMs TIGR00860 LIC # UCSC uc003gxc human. [P47869-1] # WEB RESOURCE GBRA2_HUMAN Name=Protein Spotlight; Note=Forbidden fruit - Issue 56 of March 2005; URL="http //web.expasy.org/spotlight/back_issues/056"; # eggNOG ENOG410XNQG LUCA # eggNOG KOG3642 Eukaryota BLAST swissprot:GBRA2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:GBRA2_HUMAN BioCyc ZFISH:ENSG00000151834-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000151834-MONOMER COXPRESdb 2555 http://coxpresdb.jp/data/gene/2555.shtml CleanEx HS_GABRA2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_GABRA2 DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1086/383283 http://dx.doi.org/10.1086/383283 DrugBank DB00186 http://www.drugbank.ca/drugs/DB00186 DrugBank DB00189 http://www.drugbank.ca/drugs/DB00189 DrugBank DB00228 http://www.drugbank.ca/drugs/DB00228 DrugBank DB00231 http://www.drugbank.ca/drugs/DB00231 DrugBank DB00237 http://www.drugbank.ca/drugs/DB00237 DrugBank DB00241 http://www.drugbank.ca/drugs/DB00241 DrugBank DB00273 http://www.drugbank.ca/drugs/DB00273 DrugBank DB00292 http://www.drugbank.ca/drugs/DB00292 DrugBank DB00306 http://www.drugbank.ca/drugs/DB00306 DrugBank DB00312 http://www.drugbank.ca/drugs/DB00312 DrugBank DB00334 http://www.drugbank.ca/drugs/DB00334 DrugBank DB00349 http://www.drugbank.ca/drugs/DB00349 DrugBank DB00371 http://www.drugbank.ca/drugs/DB00371 DrugBank DB00402 http://www.drugbank.ca/drugs/DB00402 DrugBank DB00404 http://www.drugbank.ca/drugs/DB00404 DrugBank DB00418 http://www.drugbank.ca/drugs/DB00418 DrugBank DB00425 http://www.drugbank.ca/drugs/DB00425 DrugBank DB00475 http://www.drugbank.ca/drugs/DB00475 DrugBank DB00543 http://www.drugbank.ca/drugs/DB00543 DrugBank DB00546 http://www.drugbank.ca/drugs/DB00546 DrugBank DB00599 http://www.drugbank.ca/drugs/DB00599 DrugBank DB00628 http://www.drugbank.ca/drugs/DB00628 DrugBank DB00659 http://www.drugbank.ca/drugs/DB00659 DrugBank DB00683 http://www.drugbank.ca/drugs/DB00683 DrugBank DB00690 http://www.drugbank.ca/drugs/DB00690 DrugBank DB00753 http://www.drugbank.ca/drugs/DB00753 DrugBank DB00794 http://www.drugbank.ca/drugs/DB00794 DrugBank DB00801 http://www.drugbank.ca/drugs/DB00801 DrugBank DB00818 http://www.drugbank.ca/drugs/DB00818 DrugBank DB00829 http://www.drugbank.ca/drugs/DB00829 DrugBank DB00842 http://www.drugbank.ca/drugs/DB00842 DrugBank DB00849 http://www.drugbank.ca/drugs/DB00849 DrugBank DB00897 http://www.drugbank.ca/drugs/DB00897 DrugBank DB00898 http://www.drugbank.ca/drugs/DB00898 DrugBank DB01028 http://www.drugbank.ca/drugs/DB01028 DrugBank DB01049 http://www.drugbank.ca/drugs/DB01049 DrugBank DB01068 http://www.drugbank.ca/drugs/DB01068 DrugBank DB01107 http://www.drugbank.ca/drugs/DB01107 DrugBank DB01159 http://www.drugbank.ca/drugs/DB01159 DrugBank DB01189 http://www.drugbank.ca/drugs/DB01189 DrugBank DB01198 http://www.drugbank.ca/drugs/DB01198 DrugBank DB01205 http://www.drugbank.ca/drugs/DB01205 DrugBank DB01215 http://www.drugbank.ca/drugs/DB01215 DrugBank DB01236 http://www.drugbank.ca/drugs/DB01236 DrugBank DB01346 http://www.drugbank.ca/drugs/DB01346 DrugBank DB01351 http://www.drugbank.ca/drugs/DB01351 DrugBank DB01352 http://www.drugbank.ca/drugs/DB01352 DrugBank DB01353 http://www.drugbank.ca/drugs/DB01353 DrugBank DB01354 http://www.drugbank.ca/drugs/DB01354 DrugBank DB01355 http://www.drugbank.ca/drugs/DB01355 DrugBank DB01437 http://www.drugbank.ca/drugs/DB01437 DrugBank DB01544 http://www.drugbank.ca/drugs/DB01544 DrugBank DB01558 http://www.drugbank.ca/drugs/DB01558 DrugBank DB01559 http://www.drugbank.ca/drugs/DB01559 DrugBank DB01567 http://www.drugbank.ca/drugs/DB01567 DrugBank DB01588 http://www.drugbank.ca/drugs/DB01588 DrugBank DB01589 http://www.drugbank.ca/drugs/DB01589 DrugBank DB01594 http://www.drugbank.ca/drugs/DB01594 DrugBank DB01595 http://www.drugbank.ca/drugs/DB01595 EMBL AB209295 http://www.ebi.ac.uk/ena/data/view/AB209295 EMBL AC084352 http://www.ebi.ac.uk/ena/data/view/AC084352 EMBL AC093745 http://www.ebi.ac.uk/ena/data/view/AC093745 EMBL AC095060 http://www.ebi.ac.uk/ena/data/view/AC095060 EMBL AC104072 http://www.ebi.ac.uk/ena/data/view/AC104072 EMBL AK125179 http://www.ebi.ac.uk/ena/data/view/AK125179 EMBL AK289662 http://www.ebi.ac.uk/ena/data/view/AK289662 EMBL AK293466 http://www.ebi.ac.uk/ena/data/view/AK293466 EMBL CH471069 http://www.ebi.ac.uk/ena/data/view/CH471069 EMBL S62907 http://www.ebi.ac.uk/ena/data/view/S62907 Ensembl ENST00000356504 http://www.ensembl.org/id/ENST00000356504 Ensembl ENST00000381620 http://www.ensembl.org/id/ENST00000381620 Ensembl ENST00000510861 http://www.ensembl.org/id/ENST00000510861 Ensembl ENST00000514090 http://www.ensembl.org/id/ENST00000514090 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0030285 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030285 GO_component GO:0030424 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030424 GO_component GO:0030425 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030425 GO_component GO:0034707 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034707 GO_component GO:0043025 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043025 GO_component GO:0045211 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045211 GO_component GO:0060077 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060077 GO_component GO:1902711 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902711 GO_function GO:0004890 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004890 GO_function GO:0008503 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008503 GO_function GO:0022851 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022851 GO_process GO:0001505 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001505 GO_process GO:0006836 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006836 GO_process GO:0007214 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007214 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:1902476 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902476 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 2.70.170.10 http://www.cathdb.info/version/latest/superfamily/2.70.170.10 GeneCards GABRA2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=GABRA2 GeneID 2555 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=2555 GeneTree ENSGT00760000119010 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119010 HGNC HGNC:4076 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:4076 HOGENOM HOG000231337 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231337&db=HOGENOM6 HOVERGEN HBG051707 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG051707&db=HOVERGEN InParanoid P47869 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P47869 IntAct P47869 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P47869* InterPro IPR001390 http://www.ebi.ac.uk/interpro/entry/IPR001390 InterPro IPR005432 http://www.ebi.ac.uk/interpro/entry/IPR005432 InterPro IPR006028 http://www.ebi.ac.uk/interpro/entry/IPR006028 InterPro IPR006029 http://www.ebi.ac.uk/interpro/entry/IPR006029 InterPro IPR006201 http://www.ebi.ac.uk/interpro/entry/IPR006201 InterPro IPR006202 http://www.ebi.ac.uk/interpro/entry/IPR006202 InterPro IPR018000 http://www.ebi.ac.uk/interpro/entry/IPR018000 Jabion 2555 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=2555 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:2555 http://www.genome.jp/dbget-bin/www_bget?hsa:2555 KEGG_Orthology KO:K05175 http://www.genome.jp/dbget-bin/www_bget?KO:K05175 KEGG_Pathway ko04080 http://www.genome.jp/kegg-bin/show_pathway?ko04080 KEGG_Pathway ko04723 http://www.genome.jp/kegg-bin/show_pathway?ko04723 KEGG_Pathway ko04727 http://www.genome.jp/kegg-bin/show_pathway?ko04727 KEGG_Pathway ko05032 http://www.genome.jp/kegg-bin/show_pathway?ko05032 KEGG_Pathway ko05033 http://www.genome.jp/kegg-bin/show_pathway?ko05033 MIM 103780 http://www.ncbi.nlm.nih.gov/omim/103780 MIM 137140 http://www.ncbi.nlm.nih.gov/omim/137140 PANTHER PTHR18945 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR18945 PRINTS PR00252 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00252 PRINTS PR00253 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00253 PRINTS PR01079 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01079 PRINTS PR01615 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01615 PROSITE PS00236 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00236 PSORT swissprot:GBRA2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:GBRA2_HUMAN PSORT-B swissprot:GBRA2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:GBRA2_HUMAN PSORT2 swissprot:GBRA2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:GBRA2_HUMAN Pfam PF02931 http://pfam.xfam.org/family/PF02931 Pfam PF02932 http://pfam.xfam.org/family/PF02932 PharmGKB PA28490 http://www.pharmgkb.org/do/serve?objId=PA28490&objCls=Gene Phobius swissprot:GBRA2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:GBRA2_HUMAN PhylomeDB P47869 http://phylomedb.org/?seqid=P47869 ProteinModelPortal P47869 http://www.proteinmodelportal.org/query/uniprot/P47869 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15024690 http://www.ncbi.nlm.nih.gov/pubmed/15024690 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 PubMed 8391122 http://www.ncbi.nlm.nih.gov/pubmed/8391122 Reactome R-HSA-112314 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-112314 Reactome R-HSA-975298 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-975298 Reactome R-HSA-977441 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-977441 RefSeq NP_000798 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000798 RefSeq NP_001107647 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001107647 RefSeq NP_001273756 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001273756 RefSeq NP_001317619 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001317619 RefSeq XP_016863471 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016863471 RefSeq XP_016863472 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016863472 STRING 9606.ENSP00000348897 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000348897&targetmode=cogs SUPFAM SSF63712 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF63712 SUPFAM SSF90112 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF90112 TCDB 1.A.9.5 http://www.tcdb.org/search/result.php?tc=1.A.9.5 TIGRFAMs TIGR00860 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00860 UCSC uc003gxc http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003gxc&org=rat UniGene Hs.116250 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.116250 UniGene Hs.48372 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.48372 UniProtKB GBRA2_HUMAN http://www.uniprot.org/uniprot/GBRA2_HUMAN UniProtKB-AC P47869 http://www.uniprot.org/uniprot/P47869 charge swissprot:GBRA2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:GBRA2_HUMAN eggNOG ENOG410XNQG http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XNQG eggNOG KOG3642 http://eggnogapi.embl.de/nog_data/html/tree/KOG3642 epestfind swissprot:GBRA2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:GBRA2_HUMAN garnier swissprot:GBRA2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:GBRA2_HUMAN helixturnhelix swissprot:GBRA2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:GBRA2_HUMAN hmoment swissprot:GBRA2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:GBRA2_HUMAN iep swissprot:GBRA2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:GBRA2_HUMAN inforesidue swissprot:GBRA2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:GBRA2_HUMAN neXtProt NX_P47869 http://www.nextprot.org/db/entry/NX_P47869 octanol swissprot:GBRA2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:GBRA2_HUMAN pepcoil swissprot:GBRA2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:GBRA2_HUMAN pepdigest swissprot:GBRA2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:GBRA2_HUMAN pepinfo swissprot:GBRA2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:GBRA2_HUMAN pepnet swissprot:GBRA2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:GBRA2_HUMAN pepstats swissprot:GBRA2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:GBRA2_HUMAN pepwheel swissprot:GBRA2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:GBRA2_HUMAN pepwindow swissprot:GBRA2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:GBRA2_HUMAN sigcleave swissprot:GBRA2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:GBRA2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS AP2A2_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=O94973-1; Sequence=Displayed; Name=2; IsoId=O94973-2; Sequence=VSP_035762; Note=No experimental confirmation available.; Name=3; IsoId=O94973-3; Sequence=VSP_035762, VSP_035763, VSP_035764; Note=No experimental confirmation available.; # AltName AP2A2_HUMAN 100 kDa coated vesicle protein C # AltName AP2A2_HUMAN Adaptor protein complex AP-2 subunit alpha-2 # AltName AP2A2_HUMAN Adaptor-related protein complex 2 subunit alpha-2 # AltName AP2A2_HUMAN Alpha-adaptin C # AltName AP2A2_HUMAN Alpha2-adaptin # AltName AP2A2_HUMAN Clathrin assembly protein complex 2 alpha-C large chain # AltName AP2A2_HUMAN Huntingtin yeast partner J # AltName AP2A2_HUMAN Huntingtin-interacting protein 9 # AltName AP2A2_HUMAN Huntingtin-interacting protein J # AltName AP2A2_HUMAN Plasma membrane adaptor HA2/AP2 adaptin alpha C subunit # BioGrid 106670 66 # CCDS CCDS44512 -. [O94973-1] # CCDS CCDS73234 -. [O94973-2] # ChiTaRS AP2A2 human # Ensembl ENST00000332231 ENSP00000327694; ENSG00000183020. [O94973-2] # Ensembl ENST00000448903 ENSP00000413234; ENSG00000183020. [O94973-1] # Ensembl ENST00000528815 ENSP00000431630; ENSG00000183020. [O94973-3] # ExpressionAtlas O94973 baseline and differential # FUNCTION AP2A2_HUMAN Component of the adaptor protein complex 2 (AP-2). Adaptor protein complexes function in protein transport via transport vesicles in different membrane traffic pathways. Adaptor protein complexes are vesicle coat components and appear to be involved in cargo selection and vesicle formation. AP-2 is involved in clathrin-dependent endocytosis in which cargo proteins are incorporated into vesicles surrounded by clathrin (clathrin- coated vesicles, CCVs) which are destined for fusion with the early endosome. The clathrin lattice serves as a mechanical scaffold but is itself unable to bind directly to membrane components. Clathrin-associated adaptor protein (AP) complexes which can bind directly to both the clathrin lattice and to the lipid and protein components of membranes are considered to be the major clathrin adaptors contributing the CCV formation. AP-2 also serves as a cargo receptor to selectively sort the membrane proteins involved in receptor-mediated endocytosis. AP-2 seems to play a role in the recycling of synaptic vesicle membranes from the presynaptic surface. AP-2 recognizes Y-X-X-[FILMV] (Y-X-X-Phi) and [ED]-X-X-X-L-[LI] endocytosis signal motifs within the cytosolic tails of transmembrane cargo molecules. AP-2 may also play a role in maintaining normal post-endocytic trafficking through the ARF6-regulated, non-clathrin pathway. The AP-2 alpha subunit binds polyphosphoinositide-containing lipids, positioning AP-2 on the membrane. The AP-2 alpha subunit acts via its C- terminal appendage domain as a scaffolding platform for endocytic accessory proteins. The AP-2 alpha and AP-2 sigma subunits are thought to contribute to the recognition of the [ED]-X-X-X-L-[LI] motif (By similarity). {ECO 0000250, ECO 0000269|PubMed 12960147, ECO 0000269|PubMed 14745134, ECO 0000269|PubMed 15473838, ECO 0000269|PubMed 19033387}. # GO_component GO:0005829 cytosol; TAS:Reactome. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0016023 cytoplasmic, membrane-bounded vesicle; ISS:BHF-UCL. # GO_component GO:0030122 AP-2 adaptor complex; TAS:BHF-UCL. # GO_component GO:0030666 endocytic vesicle membrane; TAS:Reactome. # GO_component GO:0030669 clathrin-coated endocytic vesicle membrane; TAS:Reactome. # GO_component GO:0036020 endolysosome membrane; TAS:Reactome. # GO_function GO:0008289 lipid binding; IEA:UniProtKB-KW. # GO_function GO:0008565 protein transporter activity; IEA:InterPro. # GO_function GO:0019901 protein kinase binding; ISS:ParkinsonsUK-UCL. # GO_process GO:0006886 intracellular protein transport; IEA:InterPro. # GO_process GO:0007018 microtubule-based movement; TAS:Reactome. # GO_process GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II; TAS:Reactome. # GO_process GO:0042059 negative regulation of epidermal growth factor receptor signaling pathway; TAS:Reactome. # GO_process GO:0048013 ephrin receptor signaling pathway; TAS:Reactome. # GO_process GO:0050690 regulation of defense response to virus by virus; TAS:Reactome. # GO_process GO:0060071 Wnt signaling pathway, planar cell polarity pathway; TAS:Reactome. # GO_process GO:0072583 clathrin-dependent endocytosis; TAS:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005829 cytosol # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043234 protein complex # GOslim_function GO:0008289 lipid binding # GOslim_function GO:0008565 protein transporter activity # GOslim_function GO:0019899 enzyme binding # GOslim_process GO:0002376 immune system process # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0016192 vesicle-mediated transport # Gene3D 1.25.10.10 -; 1. # Gene3D 2.60.40.1030 -; 1. # Gene3D 3.30.310.30 -; 1. # Genevisible O94973 HS # HGNC HGNC:562 AP2A2 # INTERACTION AP2A2_HUMAN P98078 Dab2 (xeno); NbExp=2; IntAct=EBI-1642835, EBI-1391846; Q61743 Kcnj11 (xeno); NbExp=2; IntAct=EBI-1642835, EBI-8603527; # IntAct O94973 33 # InterPro IPR002553 Clathrin/coatomer_adapt-like_N # InterPro IPR003164 Clathrin_a-adaptin_app_sub_C # InterPro IPR008152 Clathrin_a/b/g-adaptin_app_Ig # InterPro IPR009028 Coatomer/calthrin_app_sub_C # InterPro IPR011989 ARM-like # InterPro IPR013038 Clathrin_a-adaptin_app_Ig-like # InterPro IPR013041 Coatomer/clathrin_app_Ig-like # InterPro IPR015873 Clathrin_a/coatomer_app_sub_C # InterPro IPR016024 ARM-type_fold # InterPro IPR017104 AP2_complex_asu # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Pathway ko04144 Endocytosis # KEGG_Pathway ko04721 Synaptic vesicle cycle # KEGG_Pathway ko04961 Endocrine and other factor-regulated calcium reabsorption # KEGG_Pathway ko05016 Huntington's disease # MIM 607242 gene # Organism AP2A2_HUMAN Homo sapiens (Human) # PIRSF PIRSF037091 AP2_complex_alpha # Pfam PF01602 Adaptin_N # Pfam PF02296 Alpha_adaptin_C # Pfam PF02883 Alpha_adaptinC2 # Proteomes UP000005640 Chromosome 11 # Reactome R-HSA-167590 Nef Mediated CD4 Down-regulation # Reactome R-HSA-171052 LDL-mediated lipid transport # Reactome R-HSA-177504 Retrograde neurotrophin signalling # Reactome R-HSA-182218 Nef Mediated CD8 Down-regulation # Reactome R-HSA-2132295 MHC class II antigen presentation # Reactome R-HSA-3928665 EPH-ephrin mediated repulsion of cells # Reactome R-HSA-416993 Trafficking of GluR2-containing AMPA receptors # Reactome R-HSA-437239 Recycling pathway of L1 # Reactome R-HSA-5099900 WNT5A-dependent internalization of FZD4 # Reactome R-HSA-5140745 WNT5A-dependent internalization of FZD2, FZD5 and ROR2 # Reactome R-HSA-6798695 Neutrophil degranulation # Reactome R-HSA-8856825 Cargo recognition for clathrin-mediated endocytosis # Reactome R-HSA-8856828 Clathrin-mediated endocytosis # Reactome R-HSA-8866427 VLDLR internalisation and degradation # RecName AP2A2_HUMAN AP-2 complex subunit alpha-2 # RefSeq NP_001229766 NM_001242837.1. [O94973-2] # RefSeq NP_036437 NM_012305.3. [O94973-1] # SIMILARITY Belongs to the adaptor complexes large subunit family. {ECO 0000305}. # SMART SM00809 Alpha_adaptinC2 # SUBCELLULAR LOCATION AP2A2_HUMAN Cell membrane {ECO 0000250|UniProtKB P17427}; Peripheral membrane protein {ECO 0000250|UniProtKB P17427}; Cytoplasmic side {ECO 0000250|UniProtKB P17427}. Membrane, coated pit {ECO 0000250|UniProtKB P17427}; Peripheral membrane protein {ECO 0000250|UniProtKB P17427}; Cytoplasmic side {ECO 0000250|UniProtKB P17427}. Note=AP-2 appears to be excluded from internalizing CCVs and to disengage from sites of endocytosis seconds before internalization of the nascent CCV. {ECO 0000250|UniProtKB P17427}. # SUBUNIT AP2A2_HUMAN Adaptor protein complex 2 (AP-2) is a heterotetramer composed of two large adaptins (alpha-type subunit AP2A1 or AP2A2 and beta-type subunit AP2B1), a medium adaptin (mu-type subunit AP2M1) and a small adaptin (sigma-type subunit AP2S1). Binds EPN1, EPS15, AMPH, SNAP91 and BIN1. Interacts with HIP1. Interacts with DGKD isoform 2 (By similarity). Interacts with DENND1A, DENND1B and DENND1C (By similarity). Interacts with FCHO1 and DAB2. Interacts with ATAT1; this interaction is required for efficient alpha-tubulin acetylation by ATAT1. {ECO 0000250, ECO 0000269|PubMed 11532990, ECO 0000269|PubMed 22484487, ECO 0000269|PubMed 24097348}. # SUPFAM SSF48371 SSF48371 # SUPFAM SSF49348 SSF49348 # SUPFAM SSF55711 SSF55711 # UCSC uc001lss human. [O94973-1] # eggNOG ENOG410XNQE LUCA # eggNOG KOG1077 Eukaryota BLAST swissprot:AP2A2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:AP2A2_HUMAN BioCyc ZFISH:G66-33391-MONOMER http://biocyc.org/getid?id=ZFISH:G66-33391-MONOMER COXPRESdb 161 http://coxpresdb.jp/data/gene/161.shtml CleanEx HS_AP2A2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_AP2A2 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1038/nature12571 http://dx.doi.org/10.1038/nature12571 DOI 10.1038/ncb2473 http://dx.doi.org/10.1038/ncb2473 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.M307290200 http://dx.doi.org/10.1074/jbc.M307290200 DOI 10.1093/dnares/5.6.355 http://dx.doi.org/10.1093/dnares/5.6.355 DOI 10.1093/dnares/9.3.99 http://dx.doi.org/10.1093/dnares/9.3.99 DOI 10.1093/hmg/10.17.1807 http://dx.doi.org/10.1093/hmg/10.17.1807 DOI 10.1093/hmg/7.9.1463 http://dx.doi.org/10.1093/hmg/7.9.1463 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1146/annurev.cellbio.20.010403.104543 http://dx.doi.org/10.1146/annurev.cellbio.20.010403.104543 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DOI 10.1242/jcs.033522 http://dx.doi.org/10.1242/jcs.033522 DOI 10.1247/csf.28.419 http://dx.doi.org/10.1247/csf.28.419 EMBL AB020706 http://www.ebi.ac.uk/ena/data/view/AB020706 EMBL AF049527 http://www.ebi.ac.uk/ena/data/view/AF049527 EMBL AK027891 http://www.ebi.ac.uk/ena/data/view/AK027891 EMBL AK223558 http://www.ebi.ac.uk/ena/data/view/AK223558 EMBL BC006155 http://www.ebi.ac.uk/ena/data/view/BC006155 Ensembl ENST00000332231 http://www.ensembl.org/id/ENST00000332231 Ensembl ENST00000448903 http://www.ensembl.org/id/ENST00000448903 Ensembl ENST00000528815 http://www.ensembl.org/id/ENST00000528815 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016023 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016023 GO_component GO:0030122 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030122 GO_component GO:0030666 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030666 GO_component GO:0030669 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030669 GO_component GO:0036020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0036020 GO_function GO:0008289 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008289 GO_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GO_function GO:0019901 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019901 GO_process GO:0006886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006886 GO_process GO:0007018 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007018 GO_process GO:0019886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019886 GO_process GO:0042059 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042059 GO_process GO:0048013 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048013 GO_process GO:0050690 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050690 GO_process GO:0060071 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060071 GO_process GO:0072583 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0072583 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0008289 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008289 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_function GO:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GOslim_process GO:0002376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002376 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0016192 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016192 Gene3D 1.25.10.10 http://www.cathdb.info/version/latest/superfamily/1.25.10.10 Gene3D 2.60.40.1030 http://www.cathdb.info/version/latest/superfamily/2.60.40.1030 Gene3D 3.30.310.30 http://www.cathdb.info/version/latest/superfamily/3.30.310.30 GeneCards AP2A2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=AP2A2 GeneID 161 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=161 GeneTree ENSGT00550000074757 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074757 HGNC HGNC:562 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:562 HOGENOM HOG000170596 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000170596&db=HOGENOM6 HOVERGEN HBG050518 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050518&db=HOVERGEN HPA CAB017514 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB017514 HPA HPA043040 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA043040 InParanoid O94973 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O94973 IntAct O94973 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O94973* InterPro IPR002553 http://www.ebi.ac.uk/interpro/entry/IPR002553 InterPro IPR003164 http://www.ebi.ac.uk/interpro/entry/IPR003164 InterPro IPR008152 http://www.ebi.ac.uk/interpro/entry/IPR008152 InterPro IPR009028 http://www.ebi.ac.uk/interpro/entry/IPR009028 InterPro IPR011989 http://www.ebi.ac.uk/interpro/entry/IPR011989 InterPro IPR013038 http://www.ebi.ac.uk/interpro/entry/IPR013038 InterPro IPR013041 http://www.ebi.ac.uk/interpro/entry/IPR013041 InterPro IPR015873 http://www.ebi.ac.uk/interpro/entry/IPR015873 InterPro IPR016024 http://www.ebi.ac.uk/interpro/entry/IPR016024 InterPro IPR017104 http://www.ebi.ac.uk/interpro/entry/IPR017104 Jabion 161 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=161 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Gene hsa:161 http://www.genome.jp/dbget-bin/www_bget?hsa:161 KEGG_Orthology KO:K11824 http://www.genome.jp/dbget-bin/www_bget?KO:K11824 KEGG_Pathway ko04144 http://www.genome.jp/kegg-bin/show_pathway?ko04144 KEGG_Pathway ko04721 http://www.genome.jp/kegg-bin/show_pathway?ko04721 KEGG_Pathway ko04961 http://www.genome.jp/kegg-bin/show_pathway?ko04961 KEGG_Pathway ko05016 http://www.genome.jp/kegg-bin/show_pathway?ko05016 MIM 607242 http://www.ncbi.nlm.nih.gov/omim/607242 MINT MINT-1198502 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1198502 OMA QMINAEC http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=QMINAEC OrthoDB EOG091G01JZ http://cegg.unige.ch/orthodb/results?searchtext=EOG091G01JZ PSORT swissprot:AP2A2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:AP2A2_HUMAN PSORT-B swissprot:AP2A2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:AP2A2_HUMAN PSORT2 swissprot:AP2A2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:AP2A2_HUMAN Pfam PF01602 http://pfam.xfam.org/family/PF01602 Pfam PF02296 http://pfam.xfam.org/family/PF02296 Pfam PF02883 http://pfam.xfam.org/family/PF02883 PharmGKB PA24853 http://www.pharmgkb.org/do/serve?objId=PA24853&objCls=Gene Phobius swissprot:AP2A2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:AP2A2_HUMAN PhylomeDB O94973 http://phylomedb.org/?seqid=O94973 ProteinModelPortal O94973 http://www.proteinmodelportal.org/query/uniprot/O94973 PubMed 10048485 http://www.ncbi.nlm.nih.gov/pubmed/10048485 PubMed 11532990 http://www.ncbi.nlm.nih.gov/pubmed/11532990 PubMed 12168954 http://www.ncbi.nlm.nih.gov/pubmed/12168954 PubMed 12960147 http://www.ncbi.nlm.nih.gov/pubmed/12960147 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 14745134 http://www.ncbi.nlm.nih.gov/pubmed/14745134 PubMed 15473838 http://www.ncbi.nlm.nih.gov/pubmed/15473838 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 19033387 http://www.ncbi.nlm.nih.gov/pubmed/19033387 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 22484487 http://www.ncbi.nlm.nih.gov/pubmed/22484487 PubMed 24097348 http://www.ncbi.nlm.nih.gov/pubmed/24097348 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 9700202 http://www.ncbi.nlm.nih.gov/pubmed/9700202 Reactome R-HSA-167590 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-167590 Reactome R-HSA-171052 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-171052 Reactome R-HSA-177504 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-177504 Reactome R-HSA-182218 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-182218 Reactome R-HSA-2132295 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2132295 Reactome R-HSA-3928665 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-3928665 Reactome R-HSA-416993 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-416993 Reactome R-HSA-437239 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-437239 Reactome R-HSA-5099900 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5099900 Reactome R-HSA-5140745 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5140745 Reactome R-HSA-6798695 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6798695 Reactome R-HSA-8856825 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-8856825 Reactome R-HSA-8856828 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-8856828 Reactome R-HSA-8866427 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-8866427 RefSeq NP_001229766 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001229766 RefSeq NP_036437 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_036437 SMART SM00809 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00809 SMR O94973 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=O94973 STRING 9606.ENSP00000413234 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000413234&targetmode=cogs SUPFAM SSF48371 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48371 SUPFAM SSF49348 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF49348 SUPFAM SSF55711 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF55711 UCSC uc001lss http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001lss&org=rat UniGene Hs.19121 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.19121 UniProtKB AP2A2_HUMAN http://www.uniprot.org/uniprot/AP2A2_HUMAN UniProtKB-AC O94973 http://www.uniprot.org/uniprot/O94973 charge swissprot:AP2A2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:AP2A2_HUMAN eggNOG ENOG410XNQE http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XNQE eggNOG KOG1077 http://eggnogapi.embl.de/nog_data/html/tree/KOG1077 epestfind swissprot:AP2A2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:AP2A2_HUMAN garnier swissprot:AP2A2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:AP2A2_HUMAN helixturnhelix swissprot:AP2A2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:AP2A2_HUMAN hmoment swissprot:AP2A2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:AP2A2_HUMAN iep swissprot:AP2A2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:AP2A2_HUMAN inforesidue swissprot:AP2A2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:AP2A2_HUMAN neXtProt NX_O94973 http://www.nextprot.org/db/entry/NX_O94973 octanol swissprot:AP2A2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:AP2A2_HUMAN pepcoil swissprot:AP2A2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:AP2A2_HUMAN pepdigest swissprot:AP2A2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:AP2A2_HUMAN pepinfo swissprot:AP2A2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:AP2A2_HUMAN pepnet swissprot:AP2A2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:AP2A2_HUMAN pepstats swissprot:AP2A2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:AP2A2_HUMAN pepwheel swissprot:AP2A2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:AP2A2_HUMAN pepwindow swissprot:AP2A2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:AP2A2_HUMAN sigcleave swissprot:AP2A2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:AP2A2_HUMAN ## Database ID URL or Descriptions # AltName CAD17_HUMAN Intestinal peptide-associated transporter HPT-1 # AltName CAD17_HUMAN Liver-intestine cadherin # ChiTaRS CDH17 human # DOMAIN CAD17_HUMAN Three calcium ions are usually bound at the interface of each cadherin domain and rigidify the connections, imparting a strong curvature to the full-length ectodomain. {ECO 0000250}. # Ensembl ENST00000027335 ENSP00000027335; ENSG00000079112 # Ensembl ENST00000450165 ENSP00000401468; ENSG00000079112 # ExpressionAtlas Q12864 baseline and differential # FUNCTION CAD17_HUMAN Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. LI-cadherin may have a role in the morphological organization of liver and intestine. Involved in intestinal peptide transport. {ECO 0000269|PubMed 8153632}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0009986 cell surface; IEA:Ensembl. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0016323 basolateral plasma membrane; IDA:UniProtKB. # GO_function GO:0005178 integrin binding; IPI:UniProtKB. # GO_function GO:0005215 transporter activity; TAS:ProtInc. # GO_function GO:0005427 proton-dependent oligopeptide secondary active transmembrane transporter activity; ISS:UniProtKB. # GO_function GO:0005509 calcium ion binding; IEA:InterPro. # GO_process GO:0002314 germinal center B cell differentiation; IEA:Ensembl. # GO_process GO:0002315 marginal zone B cell differentiation; IEA:Ensembl. # GO_process GO:0006810 transport; NAS:ProtInc. # GO_process GO:0006857 oligopeptide transport; ISS:UniProtKB. # GO_process GO:0007155 cell adhesion; TAS:ProtInc. # GO_process GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules; ISS:UniProtKB. # GO_process GO:0007229 integrin-mediated signaling pathway; IMP:UniProtKB. # GO_process GO:0016339 calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules; ISS:UniProtKB. # GO_process GO:0033626 positive regulation of integrin activation by cell surface receptor linked signal transduction; IMP:UniProtKB. # GO_process GO:0034332 adherens junction organization; TAS:Reactome. # GO_process GO:0035672 oligopeptide transmembrane transport; ISS:UniProtKB. # GO_process GO:0048536 spleen development; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0002376 immune system process # GOslim_process GO:0006810 transport # GOslim_process GO:0007155 cell adhesion # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0030154 cell differentiation # GOslim_process GO:0034330 cell junction organization # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0055085 transmembrane transport # Gene3D 2.60.40.60 -; 6. # Genevisible Q12864 HS # HGNC HGNC:1756 CDH17 # InterPro IPR002126 Cadherin # InterPro IPR015919 Cadherin-like # InterPro IPR020894 Cadherin_CS # KEGG_Brite ko04516 Cell adhesion molecules and their ligands # MIM 603017 gene # Organism CAD17_HUMAN Homo sapiens (Human) # PIR S55396 S55396 # PRINTS PR00205 CADHERIN # PROSITE PS00232 CADHERIN_1; 3 # PROSITE PS50268 CADHERIN_2; 6 # Pfam PF00028 Cadherin; 5 # Proteomes UP000005640 Chromosome 8 # Reactome R-HSA-418990 Adherens junctions interactions # RecName CAD17_HUMAN Cadherin-17 # RefSeq NP_001138135 NM_001144663.1 # RefSeq NP_004054 NM_004063.3 # SIMILARITY Contains 7 cadherin domains. {ECO:0000255|PROSITE- ProRule PRU00043}. # SMART SM00112 CA; 6 # SUBCELLULAR LOCATION CAD17_HUMAN Cell membrane {ECO 0000305}; Single-pass type I membrane protein {ECO 0000305}. # SUPFAM SSF49313 SSF49313; 7 # TISSUE SPECIFICITY Expressed in the gastrointestinal tract and pancreatic duct. Not detected in kidney, lung, liver, brain, adrenal gland and skin. {ECO:0000269|PubMed 8153632}. # UCSC uc003ygh human # WEB RESOURCE CAD17_HUMAN Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http //atlasgeneticsoncology.org/Genes/CDH17ID40020ch8q22.html"; # eggNOG ENOG410XQHI LUCA # eggNOG KOG3594 Eukaryota BLAST swissprot:CAD17_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CAD17_HUMAN BioCyc ZFISH:ENSG00000079112-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000079112-MONOMER COXPRESdb 1015 http://coxpresdb.jp/data/gene/1015.shtml CleanEx HS_CDH17 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CDH17 DOI 10.1038/nature04406 http://dx.doi.org/10.1038/nature04406 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.8153632 http://dx.doi.org/10.1126/science.8153632 EMBL AP003351 http://www.ebi.ac.uk/ena/data/view/AP003351 EMBL AP003478 http://www.ebi.ac.uk/ena/data/view/AP003478 EMBL BC112013 http://www.ebi.ac.uk/ena/data/view/BC112013 EMBL BC113464 http://www.ebi.ac.uk/ena/data/view/BC113464 EMBL U07969 http://www.ebi.ac.uk/ena/data/view/U07969 EMBL X83228 http://www.ebi.ac.uk/ena/data/view/X83228 Ensembl ENST00000027335 http://www.ensembl.org/id/ENST00000027335 Ensembl ENST00000450165 http://www.ensembl.org/id/ENST00000450165 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0009986 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009986 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0016323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016323 GO_function GO:0005178 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005178 GO_function GO:0005215 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005215 GO_function GO:0005427 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005427 GO_function GO:0005509 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005509 GO_process GO:0002314 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002314 GO_process GO:0002315 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002315 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0006857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006857 GO_process GO:0007155 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007155 GO_process GO:0007156 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007156 GO_process GO:0007229 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007229 GO_process GO:0016339 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016339 GO_process GO:0033626 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033626 GO_process GO:0034332 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034332 GO_process GO:0035672 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035672 GO_process GO:0048536 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048536 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0002376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002376 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007155 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007155 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0030154 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030154 GOslim_process GO:0034330 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034330 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 2.60.40.60 http://www.cathdb.info/version/latest/superfamily/2.60.40.60 GeneCards CDH17 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CDH17 GeneID 1015 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=1015 GeneTree ENSGT00740000115559 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00740000115559 H-InvDB HIX0025563 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0025563 HGNC HGNC:1756 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:1756 HOGENOM HOG000231613 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231613&db=HOGENOM6 HOVERGEN HBG050767 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050767&db=HOVERGEN HPA CAB025143 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB025143 HPA HPA023614 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA023614 HPA HPA023616 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA023616 HPA HPA026556 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA026556 InParanoid Q12864 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q12864 IntAct Q12864 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q12864* InterPro IPR002126 http://www.ebi.ac.uk/interpro/entry/IPR002126 InterPro IPR015919 http://www.ebi.ac.uk/interpro/entry/IPR015919 InterPro IPR020894 http://www.ebi.ac.uk/interpro/entry/IPR020894 Jabion 1015 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=1015 KEGG_Brite ko04516 http://www.genome.jp/dbget-bin/www_bget?ko04516 KEGG_Gene hsa:1015 http://www.genome.jp/dbget-bin/www_bget?hsa:1015 KEGG_Orthology KO:K06811 http://www.genome.jp/dbget-bin/www_bget?KO:K06811 MIM 603017 http://www.ncbi.nlm.nih.gov/omim/603017 MINT MINT-5000411 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-5000411 OMA GKPFMYV http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=GKPFMYV OrthoDB EOG091G033T http://cegg.unige.ch/orthodb/results?searchtext=EOG091G033T PRINTS PR00205 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00205 PROSITE PS00232 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00232 PROSITE PS50268 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50268 PSORT swissprot:CAD17_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CAD17_HUMAN PSORT-B swissprot:CAD17_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CAD17_HUMAN PSORT2 swissprot:CAD17_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CAD17_HUMAN Pfam PF00028 http://pfam.xfam.org/family/PF00028 PharmGKB PA26290 http://www.pharmgkb.org/do/serve?objId=PA26290&objCls=Gene Phobius swissprot:CAD17_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CAD17_HUMAN PhylomeDB Q12864 http://phylomedb.org/?seqid=Q12864 ProteinModelPortal Q12864 http://www.proteinmodelportal.org/query/uniprot/Q12864 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16421571 http://www.ncbi.nlm.nih.gov/pubmed/16421571 PubMed 8153632 http://www.ncbi.nlm.nih.gov/pubmed/8153632 Reactome R-HSA-418990 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-418990 RefSeq NP_001138135 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001138135 RefSeq NP_004054 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004054 SMART SM00112 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00112 STRING 9606.ENSP00000027335 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000027335&targetmode=cogs SUPFAM SSF49313 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF49313 UCSC uc003ygh http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003ygh&org=rat UniGene Hs.591853 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.591853 UniProtKB CAD17_HUMAN http://www.uniprot.org/uniprot/CAD17_HUMAN UniProtKB-AC Q12864 http://www.uniprot.org/uniprot/Q12864 charge swissprot:CAD17_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CAD17_HUMAN eggNOG ENOG410XQHI http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XQHI eggNOG KOG3594 http://eggnogapi.embl.de/nog_data/html/tree/KOG3594 epestfind swissprot:CAD17_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CAD17_HUMAN garnier swissprot:CAD17_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CAD17_HUMAN helixturnhelix swissprot:CAD17_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CAD17_HUMAN hmoment swissprot:CAD17_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CAD17_HUMAN iep swissprot:CAD17_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CAD17_HUMAN inforesidue swissprot:CAD17_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CAD17_HUMAN neXtProt NX_Q12864 http://www.nextprot.org/db/entry/NX_Q12864 octanol swissprot:CAD17_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CAD17_HUMAN pepcoil swissprot:CAD17_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CAD17_HUMAN pepdigest swissprot:CAD17_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CAD17_HUMAN pepinfo swissprot:CAD17_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CAD17_HUMAN pepnet swissprot:CAD17_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CAD17_HUMAN pepstats swissprot:CAD17_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CAD17_HUMAN pepwheel swissprot:CAD17_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CAD17_HUMAN pepwindow swissprot:CAD17_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CAD17_HUMAN sigcleave swissprot:CAD17_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CAD17_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS TRPM1_HUMAN Event=Alternative splicing; Named isoforms=7; Name=1 {ECO 0000269|PubMed 16572171}; IsoId=Q7Z4N2-1; Sequence=Displayed; Note=No experimental confirmation available. {ECO 0000305}; Name=2 {ECO 0000269|PubMed 9806836, ECO 0000269|Ref.3}; IsoId=Q7Z4N2-2; Sequence=VSP_052748; Name=3 {ECO 0000269|Ref.3}; IsoId=Q7Z4N2-3; Sequence=VSP_052749; Name=4 {ECO 0000269|Ref.3}; IsoId=Q7Z4N2-4; Sequence=VSP_052750; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=5; IsoId=Q7Z4N2-5; Sequence=VSP_046786; Name=6; IsoId=Q7Z4N2-6; Sequence=VSP_046787; Name=7; IsoId=Q7Z4N2-7; Sequence=VSP_046788, VSP_046789; # AltName TRPM1_HUMAN Long transient receptor potential channel 1 # AltName TRPM1_HUMAN Melastatin-1 # BioGrid 110453 4 # CCDS CCDS10024 -. [Q7Z4N2-1] # CCDS CCDS58345 -. [Q7Z4N2-7] # CCDS CCDS58346 -. [Q7Z4N2-6] # CCDS CCDS58347 -. [Q7Z4N2-5] # DISEASE TRPM1_HUMAN Night blindness, congenital stationary, 1C (CSNB1C) [MIM 613216] A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia. {ECO 0000269|PubMed 19878917, ECO 0000269|PubMed 19896109, ECO 0000269|PubMed 19896113}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000256552 ENSP00000256552; ENSG00000134160. [Q7Z4N2-6] # Ensembl ENST00000397795 ENSP00000380897; ENSG00000134160. [Q7Z4N2-1] # Ensembl ENST00000542188 ENSP00000437849; ENSG00000134160. [Q7Z4N2-5] # Ensembl ENST00000559179 ENSP00000453851; ENSG00000134160. [Q7Z4N2-7] # Ensembl ENST00000560658 ENSP00000454077; ENSG00000134160. [Q7Z4N2-4] # ExpressionAtlas Q7Z4N2 baseline and differential # FUNCTION TRPM1_HUMAN Cation channel essential for the depolarizing photoresponse of retinal ON bipolar cells. It is part of the GRM6 signaling cascade. May play a role in metastasis suppression (By similarity). May act as a spontaneously active, calcium-permeable plasma membrane channel. {ECO 0000250, ECO 0000269|PubMed 11535825, ECO 0000269|PubMed 19878917, ECO 0000269|PubMed 19896109}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0035841 new growing cell tip; IEA:Ensembl. # GO_function GO:0005262 calcium channel activity; IDA:UniProtKB. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0007216 G-protein coupled glutamate receptor signaling pathway; IMP:UniProtKB. # GO_process GO:0007601 visual perception; IMP:UniProtKB. # GO_process GO:0046548 retinal rod cell development; IEA:Ensembl. # GO_process GO:0051262 protein tetramerization; IEA:InterPro. # GO_process GO:0060402 calcium ion transport into cytosol; IDA:UniProtKB. # GO_process GO:0070588 calcium ion transmembrane transport; TAS:Reactome. # GO_process GO:0071482 cellular response to light stimulus; IMP:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0050877 neurological system process # GOslim_process GO:0055085 transmembrane transport # Genevisible Q7Z4N2 HS # HGNC HGNC:7146 TRPM1 # INDUCTION Up-regulated by hexamethylene bisacetamide (HBMA). {ECO:0000269|PubMed 11112417}. # IntAct Q7Z4N2 2 # InterPro IPR005821 Ion_trans_dom # InterPro IPR029588 TRPM1 # InterPro IPR032415 TRPM_tetra # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00787 [Nervous system disease; Eye disease] Oguchi disease/ CSNB Oguchi type (CSNBO) # MIM 603576 gene # MIM 613216 phenotype # Organism TRPM1_HUMAN Homo sapiens (Human) # Orphanet 215 Congenital stationary night blindness # PANTHER PTHR13800:SF13 PTHR13800:SF13; 2 # Pfam PF00520 Ion_trans # Pfam PF16519 TRPM_tetra # Proteomes UP000005640 Chromosome 15 # Reactome R-HSA-3295583 TRP channels # RecName TRPM1_HUMAN Transient receptor potential cation channel subfamily M member 1 # RefSeq NP_001238949 NM_001252020.1. [Q7Z4N2-5] # RefSeq NP_001238953 NM_001252024.1. [Q7Z4N2-6] # RefSeq NP_001238959 NM_001252030.1. [Q7Z4N2-7] # RefSeq NP_002411 NM_002420.5. [Q7Z4N2-1] # SIMILARITY Belongs to the transient receptor (TC 1.A.4) family. LTrpC subfamily. TRPM1 sub-subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION TRPM1_HUMAN Cell membrane {ECO 0000255}; Multi-pass membrane protein {ECO 0000255, ECO 0000269|PubMed 11535825}. # TCDB 1.A.4.5 the transient receptor potential ca(2+) channel (trp-cc) family # TISSUE SPECIFICITY TRPM1_HUMAN Expressed in the retina where it localizes to the outer plexiform layer. Highly expressed in benign melanocytic nevi and diffusely expressed in various in situ melanomas, but not detected in melanoma metastases. Also expressed in melanocytes and pigmented metastatic melanoma cell lines. In melanocytes expression appears to be regulated at the level of transcription and mRNA processing. {ECO 0000269|PubMed 11112417, ECO 0000269|PubMed 19896109, ECO 0000269|PubMed 9537257}. # UCSC uc001zfm human. [Q7Z4N2-1] # WEB RESOURCE TRPM1_HUMAN Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http //atlasgeneticsoncology.org/Genes/TRPM1ID42707ch15q13.html"; # eggNOG ENOG410XR5B LUCA # eggNOG KOG3614 Eukaryota BLAST swissprot:TRPM1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:TRPM1_HUMAN COXPRESdb 4308 http://coxpresdb.jp/data/gene/4308.shtml CleanEx HS_TRPM1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_TRPM1 DOI 10.1006/bbrc.2000.3894 http://dx.doi.org/10.1006/bbrc.2000.3894 DOI 10.1006/geno.1998.5549 http://dx.doi.org/10.1006/geno.1998.5549 DOI 10.1016/j.ajhg.2009.10.003 http://dx.doi.org/10.1016/j.ajhg.2009.10.003 DOI 10.1016/j.ajhg.2009.10.012 http://dx.doi.org/10.1016/j.ajhg.2009.10.012 DOI 10.1016/j.ajhg.2009.10.013 http://dx.doi.org/10.1016/j.ajhg.2009.10.013 DOI 10.1038/nature04601 http://dx.doi.org/10.1038/nature04601 DOI 10.1073/pnas.191360198 http://dx.doi.org/10.1073/pnas.191360198 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/scisignal.2000146 http://dx.doi.org/10.1126/scisignal.2000146 EMBL AB115498 http://www.ebi.ac.uk/ena/data/view/AB115498 EMBL AB115499 http://www.ebi.ac.uk/ena/data/view/AB115499 EMBL AB115500 http://www.ebi.ac.uk/ena/data/view/AB115500 EMBL AB115501 http://www.ebi.ac.uk/ena/data/view/AB115501 EMBL AB115502 http://www.ebi.ac.uk/ena/data/view/AB115502 EMBL AC009562 http://www.ebi.ac.uk/ena/data/view/AC009562 EMBL AC090829 http://www.ebi.ac.uk/ena/data/view/AC090829 EMBL AF071787 http://www.ebi.ac.uk/ena/data/view/AF071787 EMBL BC058286 http://www.ebi.ac.uk/ena/data/view/BC058286 EMBL CH471216 http://www.ebi.ac.uk/ena/data/view/CH471216 EMBL HM135790 http://www.ebi.ac.uk/ena/data/view/HM135790 EMBL HM135791 http://www.ebi.ac.uk/ena/data/view/HM135791 Ensembl ENST00000256552 http://www.ensembl.org/id/ENST00000256552 Ensembl ENST00000397795 http://www.ensembl.org/id/ENST00000397795 Ensembl ENST00000542188 http://www.ensembl.org/id/ENST00000542188 Ensembl ENST00000559179 http://www.ensembl.org/id/ENST00000559179 Ensembl ENST00000560658 http://www.ensembl.org/id/ENST00000560658 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0035841 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035841 GO_function GO:0005262 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005262 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0007216 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007216 GO_process GO:0007601 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007601 GO_process GO:0046548 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046548 GO_process GO:0051262 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051262 GO_process GO:0060402 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060402 GO_process GO:0070588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070588 GO_process GO:0071482 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071482 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards TRPM1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=TRPM1 GeneID 4308 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=4308 GeneTree ENSGT00760000119127 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119127 HGNC HGNC:7146 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:7146 HOGENOM HOG000230920 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000230920&db=HOGENOM6 HOVERGEN HBG055663 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG055663&db=HOVERGEN HPA HPA014785 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA014785 InParanoid Q7Z4N2 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q7Z4N2 IntAct Q7Z4N2 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q7Z4N2* InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR029588 http://www.ebi.ac.uk/interpro/entry/IPR029588 InterPro IPR032415 http://www.ebi.ac.uk/interpro/entry/IPR032415 Jabion 4308 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=4308 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00787 http://www.genome.jp/dbget-bin/www_bget?H00787 KEGG_Gene hsa:4308 http://www.genome.jp/dbget-bin/www_bget?hsa:4308 KEGG_Orthology KO:K04976 http://www.genome.jp/dbget-bin/www_bget?KO:K04976 MIM 603576 http://www.ncbi.nlm.nih.gov/omim/603576 MIM 613216 http://www.ncbi.nlm.nih.gov/omim/613216 OMA PPCGEHL http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=PPCGEHL Orphanet 215 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=215 OrthoDB EOG091G0DHL http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0DHL PANTHER PTHR13800:SF13 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR13800:SF13 PSORT swissprot:TRPM1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:TRPM1_HUMAN PSORT-B swissprot:TRPM1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:TRPM1_HUMAN PSORT2 swissprot:TRPM1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:TRPM1_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF16519 http://pfam.xfam.org/family/PF16519 PharmGKB PA35496 http://www.pharmgkb.org/do/serve?objId=PA35496&objCls=Gene Phobius swissprot:TRPM1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:TRPM1_HUMAN PhylomeDB Q7Z4N2 http://phylomedb.org/?seqid=Q7Z4N2 ProteinModelPortal Q7Z4N2 http://www.proteinmodelportal.org/query/uniprot/Q7Z4N2 PubMed 11112417 http://www.ncbi.nlm.nih.gov/pubmed/11112417 PubMed 11535825 http://www.ncbi.nlm.nih.gov/pubmed/11535825 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16572171 http://www.ncbi.nlm.nih.gov/pubmed/16572171 PubMed 19436059 http://www.ncbi.nlm.nih.gov/pubmed/19436059 PubMed 19878917 http://www.ncbi.nlm.nih.gov/pubmed/19878917 PubMed 19896109 http://www.ncbi.nlm.nih.gov/pubmed/19896109 PubMed 19896113 http://www.ncbi.nlm.nih.gov/pubmed/19896113 PubMed 9537257 http://www.ncbi.nlm.nih.gov/pubmed/9537257 PubMed 9806836 http://www.ncbi.nlm.nih.gov/pubmed/9806836 Reactome R-HSA-3295583 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-3295583 RefSeq NP_001238949 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001238949 RefSeq NP_001238953 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001238953 RefSeq NP_001238959 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001238959 RefSeq NP_002411 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_002411 STRING 9606.ENSP00000380897 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000380897&targetmode=cogs TCDB 1.A.4.5 http://www.tcdb.org/search/result.php?tc=1.A.4.5 UCSC uc001zfm http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001zfm&org=rat UniGene Hs.155942 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.155942 UniGene Hs.732541 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.732541 UniProtKB TRPM1_HUMAN http://www.uniprot.org/uniprot/TRPM1_HUMAN UniProtKB-AC Q7Z4N2 http://www.uniprot.org/uniprot/Q7Z4N2 charge swissprot:TRPM1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:TRPM1_HUMAN eggNOG ENOG410XR5B http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XR5B eggNOG KOG3614 http://eggnogapi.embl.de/nog_data/html/tree/KOG3614 epestfind swissprot:TRPM1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:TRPM1_HUMAN garnier swissprot:TRPM1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:TRPM1_HUMAN helixturnhelix swissprot:TRPM1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:TRPM1_HUMAN hmoment swissprot:TRPM1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:TRPM1_HUMAN iep swissprot:TRPM1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:TRPM1_HUMAN inforesidue swissprot:TRPM1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:TRPM1_HUMAN neXtProt NX_Q7Z4N2 http://www.nextprot.org/db/entry/NX_Q7Z4N2 octanol swissprot:TRPM1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:TRPM1_HUMAN pepcoil swissprot:TRPM1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:TRPM1_HUMAN pepdigest swissprot:TRPM1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:TRPM1_HUMAN pepinfo swissprot:TRPM1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:TRPM1_HUMAN pepnet swissprot:TRPM1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:TRPM1_HUMAN pepstats swissprot:TRPM1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:TRPM1_HUMAN pepwheel swissprot:TRPM1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:TRPM1_HUMAN pepwindow swissprot:TRPM1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:TRPM1_HUMAN sigcleave swissprot:TRPM1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:TRPM1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS ZNT2_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9BRI3-1; Sequence=Displayed; Name=2; IsoId=Q9BRI3-2; Sequence=VSP_039754; # AltName ZNT2_HUMAN Solute carrier family 30 member 2 # BioGrid 113561 7 # CCDS CCDS272 -. [Q9BRI3-1] # CCDS CCDS30644 -. [Q9BRI3-2] # DISEASE ZNT2_HUMAN Zinc deficiency, transient neonatal (TNZD) [MIM 608118] A disorder occurring in breast-fed infants as a consequence of low milk zinc concentration in their nursing mothers, which cannot be corrected by maternal zinc supplementation. A large amount of zinc, an essential trace mineral, is required for normal growth particularly in infants, and breast milk normally contains adequate zinc to meet the requirement for infants up to 4 to 6 months of age. Zinc deficiency can lead to dermatitis, alopecia, decreased growth, and impaired immune function. The disorder shows autosomal dominant inheritance with incomplete penetrance. {ECO 0000269|PubMed 17065149, ECO 0000269|PubMed 22733820}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000374276 ENSP00000363394; ENSG00000158014. [Q9BRI3-2] # Ensembl ENST00000374278 ENSP00000363396; ENSG00000158014. [Q9BRI3-1] # GO_component GO:0005737 cytoplasm; IDA:BHF-UCL. # GO_component GO:0005765 lysosomal membrane; IDA:UniProtKB. # GO_component GO:0005770 late endosome; IDA:BHF-UCL. # GO_component GO:0005886 plasma membrane; IBA:GO_Central. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0016023 cytoplasmic, membrane-bounded vesicle; IBA:GO_Central. # GO_function GO:0005385 zinc ion transmembrane transporter activity; IBA:GO_Central. # GO_process GO:0010043 response to zinc ion; IBA:GO_Central. # GO_process GO:0061090 positive regulation of sequestering of zinc ion; IDA:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005768 endosome # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0008150 biological_process # Gene3D 1.20.1510.10 -; 1. # Genevisible Q9BRI3 HS # HGNC HGNC:11013 SLC30A2 # INTERACTION ZNT2_HUMAN Q08AM2 ADAM33; NbExp=5; IntAct=EBI-8644112, EBI-10225815; Q9BZ11-2 ADAM33; NbExp=3; IntAct=EBI-8644112, EBI-10303054; Q8N6L0 CCDC155; NbExp=5; IntAct=EBI-8644112, EBI-749265; P13236 CCL4; NbExp=5; IntAct=EBI-8644112, EBI-2873970; Q8NHW4 CCL4L2; NbExp=3; IntAct=EBI-8644112, EBI-10271156; P15151 PVR; NbExp=3; IntAct=EBI-8644112, EBI-3919694; Q9NP84 TNFRSF12A; NbExp=5; IntAct=EBI-8644112, EBI-2851995; # IntAct Q9BRI3 14 # InterPro IPR002524 Cation_efflux # InterPro IPR027469 Cation_efflux_TMD # KEGG_Brite ko02001 Solute carrier family # MIM 608118 phenotype # MIM 609617 gene # Organism ZNT2_HUMAN Homo sapiens (Human) # PANTHER PTHR11562 PTHR11562 # Pfam PF01545 Cation_efflux # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-435368 Zinc efflux and compartmentalization by the SLC30 family # RecName ZNT2_HUMAN Zinc transporter 2 # RefSeq NP_001004434 NM_001004434.2. [Q9BRI3-2] # RefSeq NP_115902 NM_032513.4. [Q9BRI3-1] # SIMILARITY Belongs to the cation diffusion facilitator (CDF) transporter (TC 2.A.4) family. SLC30A subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION ZNT2_HUMAN Isoform 2 Lysosome membrane. # SUBCELLULAR LOCATION ZNT2_HUMAN Vacuole membrane {ECO 0000269|PubMed 17897319}; Multi-pass membrane protein {ECO 0000269|PubMed 17897319}. # SUBUNIT Homodimer. {ECO:0000269|PubMed 22733820}. # TCDB 2.A.4.3 the cation diffusion facilitator (cdf) family # TIGRFAMs TIGR01297 CDF # UCSC uc001blg human. [Q9BRI3-1] BLAST swissprot:ZNT2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ZNT2_HUMAN BioCyc ZFISH:ENSG00000158014-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000158014-MONOMER COXPRESdb 7780 http://coxpresdb.jp/data/gene/7780.shtml CleanEx HS_SLC30A2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC30A2 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1073/pnas.0404089101 http://dx.doi.org/10.1073/pnas.0404089101 DOI 10.1074/jbc.M112.368159 http://dx.doi.org/10.1074/jbc.M112.368159 DOI 10.1074/jbc.M605821200 http://dx.doi.org/10.1074/jbc.M605821200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1600-0854.2007.00643.x http://dx.doi.org/10.1111/j.1600-0854.2007.00643.x EMBL AF370409 http://www.ebi.ac.uk/ena/data/view/AF370409 EMBL AL391650 http://www.ebi.ac.uk/ena/data/view/AL391650 EMBL AL391650 http://www.ebi.ac.uk/ena/data/view/AL391650 EMBL BC006251 http://www.ebi.ac.uk/ena/data/view/BC006251 Ensembl ENST00000374276 http://www.ensembl.org/id/ENST00000374276 Ensembl ENST00000374278 http://www.ensembl.org/id/ENST00000374278 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005765 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005765 GO_component GO:0005770 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005770 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0016023 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016023 GO_function GO:0005385 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005385 GO_process GO:0010043 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010043 GO_process GO:0061090 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061090 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 Gene3D 1.20.1510.10 http://www.cathdb.info/version/latest/superfamily/1.20.1510.10 GeneCards SLC30A2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC30A2 GeneID 7780 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=7780 GeneTree ENSGT00550000074381 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074381 HGNC HGNC:11013 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11013 HOGENOM HOG000079023 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000079023&db=HOGENOM6 HOVERGEN HBG003345 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG003345&db=HOVERGEN HPA HPA017979 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA017979 InParanoid Q9BRI3 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9BRI3 IntAct Q9BRI3 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9BRI3* InterPro IPR002524 http://www.ebi.ac.uk/interpro/entry/IPR002524 InterPro IPR027469 http://www.ebi.ac.uk/interpro/entry/IPR027469 Jabion 7780 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=7780 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:7780 http://www.genome.jp/dbget-bin/www_bget?hsa:7780 KEGG_Orthology KO:K14689 http://www.genome.jp/dbget-bin/www_bget?KO:K14689 MIM 608118 http://www.ncbi.nlm.nih.gov/omim/608118 MIM 609617 http://www.ncbi.nlm.nih.gov/omim/609617 OMA MMIPRAI http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=MMIPRAI OrthoDB EOG091G07UN http://cegg.unige.ch/orthodb/results?searchtext=EOG091G07UN PANTHER PTHR11562 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11562 PSORT swissprot:ZNT2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ZNT2_HUMAN PSORT-B swissprot:ZNT2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ZNT2_HUMAN PSORT2 swissprot:ZNT2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ZNT2_HUMAN Pfam PF01545 http://pfam.xfam.org/family/PF01545 PharmGKB PA35883 http://www.pharmgkb.org/do/serve?objId=PA35883&objCls=Gene Phobius swissprot:ZNT2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ZNT2_HUMAN PhylomeDB Q9BRI3 http://phylomedb.org/?seqid=Q9BRI3 ProteinModelPortal Q9BRI3 http://www.proteinmodelportal.org/query/uniprot/Q9BRI3 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15498874 http://www.ncbi.nlm.nih.gov/pubmed/15498874 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 17065149 http://www.ncbi.nlm.nih.gov/pubmed/17065149 PubMed 17897319 http://www.ncbi.nlm.nih.gov/pubmed/17897319 PubMed 22733820 http://www.ncbi.nlm.nih.gov/pubmed/22733820 Reactome R-HSA-435368 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-435368 RefSeq NP_001004434 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001004434 RefSeq NP_115902 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_115902 TCDB 2.A.4.3 http://www.tcdb.org/search/result.php?tc=2.A.4.3 TIGRFAMs TIGR01297 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01297 UCSC uc001blg http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001blg&org=rat UniGene Hs.143545 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.143545 UniProtKB ZNT2_HUMAN http://www.uniprot.org/uniprot/ZNT2_HUMAN UniProtKB-AC Q9BRI3 http://www.uniprot.org/uniprot/Q9BRI3 charge swissprot:ZNT2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ZNT2_HUMAN epestfind swissprot:ZNT2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ZNT2_HUMAN garnier swissprot:ZNT2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ZNT2_HUMAN helixturnhelix swissprot:ZNT2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ZNT2_HUMAN hmoment swissprot:ZNT2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ZNT2_HUMAN iep swissprot:ZNT2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ZNT2_HUMAN inforesidue swissprot:ZNT2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ZNT2_HUMAN neXtProt NX_Q9BRI3 http://www.nextprot.org/db/entry/NX_Q9BRI3 octanol swissprot:ZNT2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ZNT2_HUMAN pepcoil swissprot:ZNT2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ZNT2_HUMAN pepdigest swissprot:ZNT2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ZNT2_HUMAN pepinfo swissprot:ZNT2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ZNT2_HUMAN pepnet swissprot:ZNT2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ZNT2_HUMAN pepstats swissprot:ZNT2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ZNT2_HUMAN pepwheel swissprot:ZNT2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ZNT2_HUMAN pepwindow swissprot:ZNT2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ZNT2_HUMAN sigcleave swissprot:ZNT2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ZNT2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS CAC1D_HUMAN Event=Alternative splicing; Named isoforms=4; Comment=Additional isoforms seem to exist.; Name=Neuronal-type; IsoId=Q01668-1; Sequence=Displayed; Name=Beta-cell-type; IsoId=Q01668-2; Sequence=VSP_000913, VSP_000914; Name=4; Synonyms=Ca(V)1.3(42A); IsoId=Q01668-4; Sequence=VSP_047921, VSP_047922; Note=Expressed at 5% to 15% of isoform Neuronal-type in brain tissues, increased current density.; Name=3; IsoId=Q01668-3; Sequence=VSP_046743, VSP_046744; # AltName CAC1D_HUMAN Calcium channel, L type, alpha-1 polypeptide, isoform 2 # AltName CAC1D_HUMAN Voltage-gated calcium channel subunit alpha Cav1.3 # CCDS CCDS2872 -. [Q01668-2] # CCDS CCDS46848 -. [Q01668-1] # CCDS CCDS46849 -. [Q01668-3] # ChiTaRS CACNA1D human # DISEASE CAC1D_HUMAN Primary aldosteronism, seizures, and neurologic abnormalities (PASNA) [MIM 615474] A disorder characterized by hypertension, hypokalemia, and high aldosterone levels with low plasma renin activity and an elevated aldosterone/renin ratio. Other features include generalized seizures, cerebral palsy, spasticity, intellectual disability, and developmental delay. {ECO 0000269|PubMed 23913001}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE CAC1D_HUMAN Sinoatrial node dysfunction and deafness (SANDD) [MIM 614896] A disease characterized by congenital severe to profound deafness without vestibular dysfunction, associated with episodic syncope due to intermittent pronounced bradycardia. {ECO 0000269|PubMed 21131953}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DOMAIN CAC1D_HUMAN Each of the four internal repeats contains five hydrophobic transmembrane segments (S1, S2, S3, S5, S6) and one positively charged transmembrane segment (S4). S4 segments probably represent the voltage-sensor and are characterized by a series of positively charged amino acids at every third position. # DrugBank DB00270 Isradipine # DrugBank DB00381 Amlodipine # DrugBank DB00393 Nimodipine # DrugBank DB00401 Nisoldipine # DrugBank DB00421 Spironolactone # DrugBank DB00568 Cinnarizine # DrugBank DB00622 Nicardipine # DrugBank DB00661 Verapamil # DrugBank DB00898 Ethanol # DrugBank DB01023 Felodipine # DrugBank DB01054 Nitrendipine # DrugBank DB01115 Nifedipine # DrugBank DB04855 Dronedarone # DrugBank DB04920 Clevidipine # DrugBank DB06712 Nilvadipine # Ensembl ENST00000288139 ENSP00000288139; ENSG00000157388. [Q01668-2] # Ensembl ENST00000350061 ENSP00000288133; ENSG00000157388. [Q01668-1] # Ensembl ENST00000422281 ENSP00000409174; ENSG00000157388. [Q01668-3] # ExpressionAtlas Q01668 baseline and differential # FUNCTION CAC1D_HUMAN Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1D gives rise to L-type calcium currents. Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group. They are blocked by dihydropyridines (DHP), phenylalkylamines, benzothiazepines, and by omega-agatoxin-IIIA (omega-Aga-IIIA). They are however insensitive to omega-conotoxin- GVIA (omega-CTx-GVIA) and omega-agatoxin-IVA (omega-Aga-IVA). {ECO 0000269|PubMed 18482979}. # GO_component GO:0005886 plasma membrane; ISS:BHF-UCL. # GO_component GO:0005891 voltage-gated calcium channel complex; IDA:UniProtKB. # GO_component GO:0030018 Z disc; ISS:BHF-UCL. # GO_component GO:1990454 L-type voltage-gated calcium channel complex; IDA:BHF-UCL. # GO_function GO:0005245 voltage-gated calcium channel activity; IDA:UniProtKB. # GO_function GO:0008331 high voltage-gated calcium channel activity; IEA:Ensembl. # GO_function GO:0030506 ankyrin binding; ISS:BHF-UCL. # GO_function GO:0046872 metal ion binding; IEA:UniProtKB-KW. # GO_function GO:0051393 alpha-actinin binding; IPI:BHF-UCL. # GO_function GO:0086007 voltage-gated calcium channel activity involved in cardiac muscle cell action potential; IC:BHF-UCL. # GO_function GO:0086059 voltage-gated calcium channel activity involved SA node cell action potential; IMP:BHF-UCL. # GO_process GO:0006816 calcium ion transport; IDA:UniProtKB. # GO_process GO:0007188 adenylate cyclase-modulating G-protein coupled receptor signaling pathway; ISS:BHF-UCL. # GO_process GO:0007605 sensory perception of sound; IMP:BHF-UCL. # GO_process GO:0050796 regulation of insulin secretion; TAS:Reactome. # GO_process GO:0051928 positive regulation of calcium ion transport; IDA:BHF-UCL. # GO_process GO:0060372 regulation of atrial cardiac muscle cell membrane repolarization; ISS:BHF-UCL. # GO_process GO:0061337 cardiac conduction; TAS:Reactome. # GO_process GO:0070509 calcium ion import; IDA:BHF-UCL. # GO_process GO:0070588 calcium ion transmembrane transport; ISS:BHF-UCL. # GO_process GO:0086012 membrane depolarization during cardiac muscle cell action potential; IC:BHF-UCL. # GO_process GO:0086046 membrane depolarization during SA node cell action potential; IMP:BHF-UCL. # GO_process GO:0086091 regulation of heart rate by cardiac conduction; IMP:BHF-UCL. # GO_process GO:1901016 regulation of potassium ion transmembrane transporter activity; ISS:BHF-UCL. # GO_process GO:1901379 regulation of potassium ion transmembrane transport; ISS:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0008092 cytoskeletal protein binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0050877 neurological system process # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.20.120.350 -; 5. # Genevisible Q01668 HS # HGNC HGNC:1391 CACNA1D # InterPro IPR002077 VDCCAlpha1 # InterPro IPR005446 VDCC_L_a1su # InterPro IPR005452 LVDCC_a1dsu # InterPro IPR005821 Ion_trans_dom # InterPro IPR014873 VDCC_a1su_IQ # InterPro IPR027359 Channel_four-helix_dom # InterPro IPR031649 GPHH_dom # InterPro IPR031688 CAC1F_C # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Disease H01603 [Endocrine disease] Primary aldosteronism # KEGG_Pathway ko04010 MAPK signaling pathway # KEGG_Pathway ko04020 Calcium signaling pathway # KEGG_Pathway ko04260 Cardiac muscle contraction # KEGG_Pathway ko04270 Vascular smooth muscle contraction # KEGG_Pathway ko04713 Circadian entrainment # KEGG_Pathway ko04723 Retrograde endocannabinoid signaling # KEGG_Pathway ko04724 Glutamatergic synapse # KEGG_Pathway ko04725 Cholinergic synapse # KEGG_Pathway ko04726 Serotonergic synapse # KEGG_Pathway ko04727 GABAergic synapse # KEGG_Pathway ko04728 Dopaminergic synapse # KEGG_Pathway ko04912 GnRH signaling pathway # KEGG_Pathway ko04930 Type II diabetes mellitus # KEGG_Pathway ko04973 Carbohydrate digestion and absorption # KEGG_Pathway ko05010 Alzheimer's disease # KEGG_Pathway ko05031 Amphetamine addiction # KEGG_Pathway ko05410 Hypertrophic cardiomyopathy (HCM) # KEGG_Pathway ko05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC) # KEGG_Pathway ko05414 Dilated cardiomyopathy # MIM 114206 gene # MIM 614896 phenotype # MIM 615474 phenotype # Organism CAC1D_HUMAN Homo sapiens (Human) # Orphanet 324321 Sinoatrial node dysfunction and deafness # Orphanet 369929 Aldosterone-producing adenoma with seizures and neurological abnormalities # Orphanet 85142 Aldosterone-producing adenoma # PANTHER PTHR10037:SF139 PTHR10037:SF139 # PDB 3LV3 X-ray; 1.94 A; C=502-510 # PIR JH0564 JH0564 # POLYMORPHISM A change from seven to eight ATG trinucleotide repeats, resulting in an additional N-terminal methionine, has been found in a patient with non-insulin-dependent diabetes mellitus (NIDDM). {ECO:0000269|PubMed 7557998}. # PRINTS PR00167 CACHANNEL # PRINTS PR01630 LVDCCALPHA1 # PRINTS PR01636 LVDCCALPHA1D # Pfam PF00520 Ion_trans; 4 # Pfam PF08763 Ca_chan_IQ # Pfam PF16885 CAC1F_C # Pfam PF16905 GPHH # Proteomes UP000005640 Chromosome 3 # Reactome R-HSA-400042 Adrenaline,noradrenaline inhibits insulin secretion # Reactome R-HSA-419037 NCAM1 interactions # Reactome R-HSA-422356 Regulation of insulin secretion # Reactome R-HSA-5576892 Phase 0 - rapid depolarisation # Reactome R-HSA-5576893 Phase 2 - plateau phase # Reactome R-HSA-5576894 Phase 1 - inactivation of fast Na+ channels # RecName CAC1D_HUMAN Voltage-dependent L-type calcium channel subunit alpha-1D # RefSeq NP_000711 NM_000720.3. [Q01668-2] # RefSeq NP_001122311 NM_001128839.2. [Q01668-3] # RefSeq NP_001122312 NM_001128840.2. [Q01668-1] # SIMILARITY Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1D subfamily. {ECO 0000305}. # SMART SM01062 Ca_chan_IQ # SUBCELLULAR LOCATION CAC1D_HUMAN Membrane {ECO 0000269|PubMed 18482979}; Multi-pass membrane protein {ECO 0000269|PubMed 18482979}. # SUBUNIT CAC1D_HUMAN Voltage-dependent calcium channels are multisubunit complexes, consisting of alpha-1, alpha-2, beta and delta subunits in a 1 1 1 1 ratio. The channel activity is directed by the pore- forming and voltage-sensitive alpha-1 subunit. In many cases, this subunit is sufficient to generate voltage-sensitive calcium channel activity. The auxiliary subunits beta and alpha-2/delta linked by a disulfide bridge regulate the channel activity. Channel activity is further modulated, depending on the presence of specific delta subunit isoforms. Interacts (via IQ domain) with CABP1 and CABP4 in a calcium independent manner (By similarity). Interacts with RIMBP2 (By similarity). {ECO 0000250}. # TISSUE SPECIFICITY Expressed in pancreatic islets and in brain, where it has been seen in cerebral cortex, hippocampus, basal ganglia, habenula and thalamus. Expressed in the small cell lung carcinoma cell line SCC-9. No expression in skeletal muscle. {ECO:0000269|PubMed 1335101}. # UCSC uc003dgu human. [Q01668-1] # eggNOG ENOG410XNP6 LUCA # eggNOG KOG2301 Eukaryota BLAST swissprot:CAC1D_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CAC1D_HUMAN BioCyc ZFISH:ENSG00000157388-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000157388-MONOMER COXPRESdb 776 http://coxpresdb.jp/data/gene/776.shtml CleanEx HS_CACNA1D http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CACNA1D DIP DIP-48998N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-48998N DOI 10.1002/pro.559 http://dx.doi.org/10.1002/pro.559 DOI 10.1006/geno.1995.1048 http://dx.doi.org/10.1006/geno.1995.1048 DOI 10.1016/0896-6273(92)90109-Q http://dx.doi.org/10.1016/0896-6273(92)90109-Q DOI 10.1016/S0025-6196(12)61144-6 http://dx.doi.org/10.1016/S0025-6196(12)61144-6 DOI 10.1038/emm.1998.36 http://dx.doi.org/10.1038/emm.1998.36 DOI 10.1038/nature04728 http://dx.doi.org/10.1038/nature04728 DOI 10.1038/ng.2695 http://dx.doi.org/10.1038/ng.2695 DOI 10.1038/nn.2694 http://dx.doi.org/10.1038/nn.2694 DOI 10.1073/pnas.89.2.584 http://dx.doi.org/10.1073/pnas.89.2.584 DOI 10.1074/jbc.M802254200 http://dx.doi.org/10.1074/jbc.M802254200 DrugBank DB00270 http://www.drugbank.ca/drugs/DB00270 DrugBank DB00381 http://www.drugbank.ca/drugs/DB00381 DrugBank DB00393 http://www.drugbank.ca/drugs/DB00393 DrugBank DB00401 http://www.drugbank.ca/drugs/DB00401 DrugBank DB00421 http://www.drugbank.ca/drugs/DB00421 DrugBank DB00568 http://www.drugbank.ca/drugs/DB00568 DrugBank DB00622 http://www.drugbank.ca/drugs/DB00622 DrugBank DB00661 http://www.drugbank.ca/drugs/DB00661 DrugBank DB00898 http://www.drugbank.ca/drugs/DB00898 DrugBank DB01023 http://www.drugbank.ca/drugs/DB01023 DrugBank DB01054 http://www.drugbank.ca/drugs/DB01054 DrugBank DB01115 http://www.drugbank.ca/drugs/DB01115 DrugBank DB04855 http://www.drugbank.ca/drugs/DB04855 DrugBank DB04920 http://www.drugbank.ca/drugs/DB04920 DrugBank DB06712 http://www.drugbank.ca/drugs/DB06712 EMBL AC005905 http://www.ebi.ac.uk/ena/data/view/AC005905 EMBL AC012467 http://www.ebi.ac.uk/ena/data/view/AC012467 EMBL AC024149 http://www.ebi.ac.uk/ena/data/view/AC024149 EMBL AC132810 http://www.ebi.ac.uk/ena/data/view/AC132810 EMBL AF055575 http://www.ebi.ac.uk/ena/data/view/AF055575 EMBL D43747 http://www.ebi.ac.uk/ena/data/view/D43747 EMBL EU363339 http://www.ebi.ac.uk/ena/data/view/EU363339 EMBL M76558 http://www.ebi.ac.uk/ena/data/view/M76558 EMBL M83566 http://www.ebi.ac.uk/ena/data/view/M83566 Ensembl ENST00000288139 http://www.ensembl.org/id/ENST00000288139 Ensembl ENST00000350061 http://www.ensembl.org/id/ENST00000350061 Ensembl ENST00000422281 http://www.ensembl.org/id/ENST00000422281 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005891 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005891 GO_component GO:0030018 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030018 GO_component GO:1990454 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1990454 GO_function GO:0005245 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005245 GO_function GO:0008331 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008331 GO_function GO:0030506 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030506 GO_function GO:0046872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046872 GO_function GO:0051393 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051393 GO_function GO:0086007 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086007 GO_function GO:0086059 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086059 GO_process GO:0006816 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006816 GO_process GO:0007188 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007188 GO_process GO:0007605 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007605 GO_process GO:0050796 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050796 GO_process GO:0051928 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051928 GO_process GO:0060372 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060372 GO_process GO:0061337 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061337 GO_process GO:0070509 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070509 GO_process GO:0070588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070588 GO_process GO:0086012 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086012 GO_process GO:0086046 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086046 GO_process GO:0086091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086091 GO_process GO:1901016 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1901016 GO_process GO:1901379 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1901379 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0008092 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008092 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.20.120.350 http://www.cathdb.info/version/latest/superfamily/1.20.120.350 GeneCards CACNA1D http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CACNA1D GeneID 776 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=776 GeneTree ENSGT00830000128247 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00830000128247 HGNC HGNC:1391 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:1391 HOGENOM HOG000231529 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231529&db=HOGENOM6 HOVERGEN HBG050763 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050763&db=HOVERGEN HPA HPA020215 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA020215 InParanoid Q01668 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q01668 IntAct Q01668 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q01668* InterPro IPR002077 http://www.ebi.ac.uk/interpro/entry/IPR002077 InterPro IPR005446 http://www.ebi.ac.uk/interpro/entry/IPR005446 InterPro IPR005452 http://www.ebi.ac.uk/interpro/entry/IPR005452 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR014873 http://www.ebi.ac.uk/interpro/entry/IPR014873 InterPro IPR027359 http://www.ebi.ac.uk/interpro/entry/IPR027359 InterPro IPR031649 http://www.ebi.ac.uk/interpro/entry/IPR031649 InterPro IPR031688 http://www.ebi.ac.uk/interpro/entry/IPR031688 Jabion 776 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=776 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H01603 http://www.genome.jp/dbget-bin/www_bget?H01603 KEGG_Gene hsa:776 http://www.genome.jp/dbget-bin/www_bget?hsa:776 KEGG_Orthology KO:K04851 http://www.genome.jp/dbget-bin/www_bget?KO:K04851 KEGG_Pathway ko04010 http://www.genome.jp/kegg-bin/show_pathway?ko04010 KEGG_Pathway ko04020 http://www.genome.jp/kegg-bin/show_pathway?ko04020 KEGG_Pathway ko04260 http://www.genome.jp/kegg-bin/show_pathway?ko04260 KEGG_Pathway ko04270 http://www.genome.jp/kegg-bin/show_pathway?ko04270 KEGG_Pathway ko04713 http://www.genome.jp/kegg-bin/show_pathway?ko04713 KEGG_Pathway ko04723 http://www.genome.jp/kegg-bin/show_pathway?ko04723 KEGG_Pathway ko04724 http://www.genome.jp/kegg-bin/show_pathway?ko04724 KEGG_Pathway ko04725 http://www.genome.jp/kegg-bin/show_pathway?ko04725 KEGG_Pathway ko04726 http://www.genome.jp/kegg-bin/show_pathway?ko04726 KEGG_Pathway ko04727 http://www.genome.jp/kegg-bin/show_pathway?ko04727 KEGG_Pathway ko04728 http://www.genome.jp/kegg-bin/show_pathway?ko04728 KEGG_Pathway ko04912 http://www.genome.jp/kegg-bin/show_pathway?ko04912 KEGG_Pathway ko04930 http://www.genome.jp/kegg-bin/show_pathway?ko04930 KEGG_Pathway ko04973 http://www.genome.jp/kegg-bin/show_pathway?ko04973 KEGG_Pathway ko05010 http://www.genome.jp/kegg-bin/show_pathway?ko05010 KEGG_Pathway ko05031 http://www.genome.jp/kegg-bin/show_pathway?ko05031 KEGG_Pathway ko05410 http://www.genome.jp/kegg-bin/show_pathway?ko05410 KEGG_Pathway ko05412 http://www.genome.jp/kegg-bin/show_pathway?ko05412 KEGG_Pathway ko05414 http://www.genome.jp/kegg-bin/show_pathway?ko05414 MIM 114206 http://www.ncbi.nlm.nih.gov/omim/114206 MIM 614896 http://www.ncbi.nlm.nih.gov/omim/614896 MIM 615474 http://www.ncbi.nlm.nih.gov/omim/615474 OMA IQVERPE http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=IQVERPE Orphanet 324321 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=324321 Orphanet 369929 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=369929 Orphanet 85142 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=85142 OrthoDB EOG091G0TKO http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0TKO PANTHER PTHR10037:SF139 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10037:SF139 PDB 3LV3 http://www.ebi.ac.uk/pdbe-srv/view/entry/3LV3 PDBsum 3LV3 http://www.ebi.ac.uk/pdbsum/3LV3 PRINTS PR00167 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00167 PRINTS PR01630 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01630 PRINTS PR01636 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01636 PSORT swissprot:CAC1D_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CAC1D_HUMAN PSORT-B swissprot:CAC1D_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CAC1D_HUMAN PSORT2 swissprot:CAC1D_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CAC1D_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF08763 http://pfam.xfam.org/family/PF08763 Pfam PF16885 http://pfam.xfam.org/family/PF16885 Pfam PF16905 http://pfam.xfam.org/family/PF16905 PharmGKB PA84 http://www.pharmgkb.org/do/serve?objId=PA84&objCls=Gene Phobius swissprot:CAC1D_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CAC1D_HUMAN PhylomeDB Q01668 http://phylomedb.org/?seqid=Q01668 ProteinModelPortal Q01668 http://www.proteinmodelportal.org/query/uniprot/Q01668 PubMed 1309651 http://www.ncbi.nlm.nih.gov/pubmed/1309651 PubMed 1309948 http://www.ncbi.nlm.nih.gov/pubmed/1309948 PubMed 1335101 http://www.ncbi.nlm.nih.gov/pubmed/1335101 PubMed 16641997 http://www.ncbi.nlm.nih.gov/pubmed/16641997 PubMed 18482979 http://www.ncbi.nlm.nih.gov/pubmed/18482979 PubMed 21131953 http://www.ncbi.nlm.nih.gov/pubmed/21131953 PubMed 21280120 http://www.ncbi.nlm.nih.gov/pubmed/21280120 PubMed 23913001 http://www.ncbi.nlm.nih.gov/pubmed/23913001 PubMed 7557998 http://www.ncbi.nlm.nih.gov/pubmed/7557998 PubMed 9894156 http://www.ncbi.nlm.nih.gov/pubmed/9894156 Reactome R-HSA-400042 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-400042 Reactome R-HSA-419037 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-419037 Reactome R-HSA-422356 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-422356 Reactome R-HSA-5576892 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576892 Reactome R-HSA-5576893 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576893 Reactome R-HSA-5576894 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576894 RefSeq NP_000711 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000711 RefSeq NP_001122311 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001122311 RefSeq NP_001122312 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001122312 SMART SM01062 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM01062 SMR Q01668 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q01668 STRING 9606.ENSP00000288139 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000288139&targetmode=cogs UCSC uc003dgu http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003dgu&org=rat UniGene Hs.476358 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.476358 UniProtKB CAC1D_HUMAN http://www.uniprot.org/uniprot/CAC1D_HUMAN UniProtKB-AC Q01668 http://www.uniprot.org/uniprot/Q01668 charge swissprot:CAC1D_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CAC1D_HUMAN eggNOG ENOG410XNP6 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XNP6 eggNOG KOG2301 http://eggnogapi.embl.de/nog_data/html/tree/KOG2301 epestfind swissprot:CAC1D_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CAC1D_HUMAN garnier swissprot:CAC1D_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CAC1D_HUMAN helixturnhelix swissprot:CAC1D_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CAC1D_HUMAN hmoment swissprot:CAC1D_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CAC1D_HUMAN iep swissprot:CAC1D_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CAC1D_HUMAN inforesidue swissprot:CAC1D_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CAC1D_HUMAN neXtProt NX_Q01668 http://www.nextprot.org/db/entry/NX_Q01668 octanol swissprot:CAC1D_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CAC1D_HUMAN pepcoil swissprot:CAC1D_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CAC1D_HUMAN pepdigest swissprot:CAC1D_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CAC1D_HUMAN pepinfo swissprot:CAC1D_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CAC1D_HUMAN pepnet swissprot:CAC1D_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CAC1D_HUMAN pepstats swissprot:CAC1D_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CAC1D_HUMAN pepwheel swissprot:CAC1D_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CAC1D_HUMAN pepwindow swissprot:CAC1D_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CAC1D_HUMAN sigcleave swissprot:CAC1D_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CAC1D_HUMAN ## Database ID URL or Descriptions # BioGrid 123839 14 # CDD cd00051 EFh; 2 # ChiTaRS NCALD human # Ensembl ENST00000220931 ENSP00000220931; ENSG00000104490 # Ensembl ENST00000311028 ENSP00000310587; ENSG00000104490 # Ensembl ENST00000395923 ENSP00000379256; ENSG00000104490 # Ensembl ENST00000519508 ENSP00000430476; ENSG00000104490 # Ensembl ENST00000521599 ENSP00000428105; ENSG00000104490 # ExpressionAtlas P61601 baseline and differential # FUNCTION NCALD_HUMAN May be involved in the calcium-dependent regulation of rhodopsin phosphorylation. Binds three calcium ions. # GO_component GO:0005622 intracellular; IDA:LIFEdb. # GO_component GO:0005829 cytosol; NAS:UniProtKB. # GO_component GO:0030130 clathrin coat of trans-Golgi network vesicle; NAS:UniProtKB. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0003779 actin binding; IDA:UniProtKB. # GO_function GO:0005509 calcium ion binding; IEA:InterPro. # GO_function GO:0015276 ligand-gated ion channel activity; TAS:Reactome. # GO_function GO:0015631 tubulin binding; IDA:UniProtKB. # GO_function GO:0030276 clathrin binding; IDA:UniProtKB. # GO_process GO:0003073 regulation of systemic arterial blood pressure; IEA:Ensembl. # GO_process GO:0016192 vesicle-mediated transport; NAS:UniProtKB. # GO_process GO:0019722 calcium-mediated signaling; IEA:Ensembl. # GOslim_component GO:0005622 intracellular # GOslim_component GO:0005829 cytosol # GOslim_component GO:0043226 organelle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0008092 cytoskeletal protein binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0016192 vesicle-mediated transport # Gene3D 1.10.238.10 -; 3. # Genevisible P61601 HS # HGNC HGNC:7655 NCALD # INTERACTION NCALD_HUMAN Q9BXJ5 C1QTNF2; NbExp=8; IntAct=EBI-749635, EBI-2817707; Q4ZH49 DTX2; NbExp=5; IntAct=EBI-749635, EBI-10192429; Q86UW9 DTX2; NbExp=7; IntAct=EBI-749635, EBI-740376; A4D127 MEOX2; NbExp=3; IntAct=EBI-749635, EBI-10172134; Q7DB77 tir (xeno); NbExp=3; IntAct=EBI-749635, EBI-6480811; # IntAct P61601 7 # InterPro IPR002048 EF_hand_dom # InterPro IPR011992 EF-hand-dom_pair # InterPro IPR018247 EF_Hand_1_Ca_BS # InterPro IPR028846 Recoverin # MIM 606722 gene # Organism NCALD_HUMAN Homo sapiens (Human) # PANTHER PTHR23055 PTHR23055 # PROSITE PS00018 EF_HAND_1; 3 # PROSITE PS50222 EF_HAND_2; 4 # Pfam PF13499 EF-hand_7 # Pfam PF13833 EF-hand_8 # Proteomes UP000005640 Chromosome 8 # Reactome R-HSA-451308 Activation of Ca-permeable Kainate Receptor # RecName NCALD_HUMAN Neurocalcin-delta # RefSeq NP_001035714 NM_001040624.1 # RefSeq NP_001035715 NM_001040625.1 # RefSeq NP_001035716 NM_001040626.1 # RefSeq NP_001035717 NM_001040627.1 # RefSeq NP_001035718 NM_001040628.1 # RefSeq NP_001035719 NM_001040629.1 # RefSeq NP_001035720 NM_001040630.1 # RefSeq NP_114430 NM_032041.2 # RefSeq XP_011515634 XM_011517332.2 # RefSeq XP_011515635 XM_011517333.2 # RefSeq XP_011515636 XM_011517334.2 # RefSeq XP_011515637 XM_011517335.2 # RefSeq XP_016869390 XM_017013901.1 # RefSeq XP_016869391 XM_017013902.1 # SIMILARITY Belongs to the recoverin family. {ECO 0000305}. # SIMILARITY Contains 4 EF-hand domains. {ECO:0000255|PROSITE- ProRule PRU00448}. # SMART SM00054 EFh; 3 # SUPFAM SSF47473 SSF47473 # TISSUE SPECIFICITY NCALD_HUMAN Retina, cerebrum, cerebellum, brain stem, spinal cord, testis, ovary and small intestine. # UCSC uc003yke human # eggNOG COG5126 LUCA # eggNOG KOG0044 Eukaryota BLAST swissprot:NCALD_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:NCALD_HUMAN BioCyc ZFISH:ENSG00000104490-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000104490-MONOMER COXPRESdb 83988 http://coxpresdb.jp/data/gene/83988.shtml CleanEx HS_NCALD http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_NCALD DOI 10.1016/S0167-4781(00)00290-6 http://dx.doi.org/10.1016/S0167-4781(00)00290-6 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1101/gr.GR1547R http://dx.doi.org/10.1101/gr.GR1547R EMBL AF251061 http://www.ebi.ac.uk/ena/data/view/AF251061 EMBL AL136612 http://www.ebi.ac.uk/ena/data/view/AL136612 EMBL BC036098 http://www.ebi.ac.uk/ena/data/view/BC036098 EMBL BC063428 http://www.ebi.ac.uk/ena/data/view/BC063428 Ensembl ENST00000220931 http://www.ensembl.org/id/ENST00000220931 Ensembl ENST00000311028 http://www.ensembl.org/id/ENST00000311028 Ensembl ENST00000395923 http://www.ensembl.org/id/ENST00000395923 Ensembl ENST00000519508 http://www.ensembl.org/id/ENST00000519508 Ensembl ENST00000521599 http://www.ensembl.org/id/ENST00000521599 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005622 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005622 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0030130 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030130 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0003779 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003779 GO_function GO:0005509 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005509 GO_function GO:0015276 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015276 GO_function GO:0015631 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015631 GO_function GO:0030276 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030276 GO_process GO:0003073 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003073 GO_process GO:0016192 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016192 GO_process GO:0019722 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019722 GOslim_component GO:0005622 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005622 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0008092 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008092 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0016192 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016192 Gene3D 1.10.238.10 http://www.cathdb.info/version/latest/superfamily/1.10.238.10 GeneCards NCALD http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=NCALD GeneID 83988 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=83988 GeneTree ENSGT00760000118820 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118820 HGNC HGNC:7655 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:7655 HOGENOM HOG000233019 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000233019&db=HOGENOM6 HOVERGEN HBG108179 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG108179&db=HOVERGEN HPA HPA043245 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA043245 InParanoid P61601 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P61601 IntAct P61601 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P61601* InterPro IPR002048 http://www.ebi.ac.uk/interpro/entry/IPR002048 InterPro IPR011992 http://www.ebi.ac.uk/interpro/entry/IPR011992 InterPro IPR018247 http://www.ebi.ac.uk/interpro/entry/IPR018247 InterPro IPR028846 http://www.ebi.ac.uk/interpro/entry/IPR028846 Jabion 83988 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=83988 KEGG_Gene hsa:83988 http://www.genome.jp/dbget-bin/www_bget?hsa:83988 MIM 606722 http://www.ncbi.nlm.nih.gov/omim/606722 MINT MINT-1436083 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1436083 OMA ATEFNEH http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=ATEFNEH PANTHER PTHR23055 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR23055 PROSITE PS00018 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00018 PROSITE PS50222 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50222 PSORT swissprot:NCALD_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:NCALD_HUMAN PSORT-B swissprot:NCALD_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:NCALD_HUMAN PSORT2 swissprot:NCALD_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:NCALD_HUMAN Pfam PF13499 http://pfam.xfam.org/family/PF13499 Pfam PF13833 http://pfam.xfam.org/family/PF13833 PharmGKB PA31458 http://www.pharmgkb.org/do/serve?objId=PA31458&objCls=Gene Phobius swissprot:NCALD_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:NCALD_HUMAN PhylomeDB P61601 http://phylomedb.org/?seqid=P61601 ProteinModelPortal P61601 http://www.proteinmodelportal.org/query/uniprot/P61601 PubMed 11230166 http://www.ncbi.nlm.nih.gov/pubmed/11230166 PubMed 11267673 http://www.ncbi.nlm.nih.gov/pubmed/11267673 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 Reactome R-HSA-451308 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-451308 RefSeq NP_001035714 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001035714 RefSeq NP_001035715 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001035715 RefSeq NP_001035716 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001035716 RefSeq NP_001035717 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001035717 RefSeq NP_001035718 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001035718 RefSeq NP_001035719 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001035719 RefSeq NP_001035720 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001035720 RefSeq NP_114430 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_114430 RefSeq XP_011515634 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011515634 RefSeq XP_011515635 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011515635 RefSeq XP_011515636 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011515636 RefSeq XP_011515637 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011515637 RefSeq XP_016869390 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016869390 RefSeq XP_016869391 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016869391 SMART SM00054 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00054 SMR P61601 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P61601 STRING 9606.ENSP00000220931 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000220931&targetmode=cogs SUPFAM SSF47473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF47473 UCSC uc003yke http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003yke&org=rat UniGene Hs.492427 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.492427 UniProtKB NCALD_HUMAN http://www.uniprot.org/uniprot/NCALD_HUMAN UniProtKB-AC P61601 http://www.uniprot.org/uniprot/P61601 charge swissprot:NCALD_HUMAN http://rest.g-language.org/emboss/charge/swissprot:NCALD_HUMAN eggNOG COG5126 http://eggnogapi.embl.de/nog_data/html/tree/COG5126 eggNOG KOG0044 http://eggnogapi.embl.de/nog_data/html/tree/KOG0044 epestfind swissprot:NCALD_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:NCALD_HUMAN garnier swissprot:NCALD_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:NCALD_HUMAN helixturnhelix swissprot:NCALD_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:NCALD_HUMAN hmoment swissprot:NCALD_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:NCALD_HUMAN iep swissprot:NCALD_HUMAN http://rest.g-language.org/emboss/iep/swissprot:NCALD_HUMAN inforesidue swissprot:NCALD_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:NCALD_HUMAN neXtProt NX_P61601 http://www.nextprot.org/db/entry/NX_P61601 octanol swissprot:NCALD_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:NCALD_HUMAN pepcoil swissprot:NCALD_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:NCALD_HUMAN pepdigest swissprot:NCALD_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:NCALD_HUMAN pepinfo swissprot:NCALD_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:NCALD_HUMAN pepnet swissprot:NCALD_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:NCALD_HUMAN pepstats swissprot:NCALD_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:NCALD_HUMAN pepwheel swissprot:NCALD_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:NCALD_HUMAN pepwindow swissprot:NCALD_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:NCALD_HUMAN sigcleave swissprot:NCALD_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:NCALD_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS SC5AA_HUMAN Event=Alternative splicing; Named isoforms=5; Name=1; Synonyms=IF2; IsoId=A0PJK1-1; Sequence=Displayed; Name=2; Synonyms=IF3; IsoId=A0PJK1-2; Sequence=VSP_029417; Name=3; IsoId=A0PJK1-3; Sequence=VSP_029416, VSP_029417, VSP_029418, VSP_029419; Note=No experimental confirmation available.; Name=4; Synonyms=IF1; IsoId=A0PJK1-4; Sequence=VSP_029418; Name=5; Synonyms=IF4; IsoId=A0PJK1-5; Sequence=VSP_045061; # AltName SC5AA_HUMAN Solute carrier family 5 member 10 # CCDS CCDS11201 -. [A0PJK1-4] # CCDS CCDS42275 -. [A0PJK1-1] # CCDS CCDS59277 -. [A0PJK1-5] # CCDS CCDS59278 -. [A0PJK1-2] # CCDS CCDS74008 -. [A0PJK1-3] # ChiTaRS SLC5A10 human # Ensembl ENST00000317977 ENSP00000324346; ENSG00000154025. [A0PJK1-3] # Ensembl ENST00000395643 ENSP00000379005; ENSG00000154025. [A0PJK1-2] # Ensembl ENST00000395645 ENSP00000379007; ENSG00000154025. [A0PJK1-1] # Ensembl ENST00000395647 ENSP00000379008; ENSG00000154025. [A0PJK1-4] # Ensembl ENST00000417251 ENSP00000401875; ENSG00000154025. [A0PJK1-5] # FUNCTION SC5AA_HUMAN High capacity transporter for mannose and fructose and, to a lesser extent, glucose, AMG, and galactose. {ECO 0000269|PubMed 22212718}. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0015293 symporter activity; IBA:GO_Central. # GO_process GO:0006814 sodium ion transport; IEA:UniProtKB-KW. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0043226 organelle # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # Genevisible A0PJK1 HS # HGNC HGNC:23155 SLC5A10 # InterPro IPR001734 Na/solute_symporter # InterPro IPR018212 Na/solute_symporter_CS # KEGG_Brite ko02001 Solute carrier family # Organism SC5AA_HUMAN Homo sapiens (Human) # PANTHER PTHR11819 PTHR11819 # PROSITE PS00457 NA_SOLUT_SYMP_2 # PROSITE PS50283 NA_SOLUT_SYMP_3 # Pfam PF00474 SSF # Proteomes UP000005640 Chromosome 17 # Reactome R-HSA-189200 Hexose transport # RecName SC5AA_HUMAN Sodium/glucose cotransporter 5 # RefSeq NP_001035915 NM_001042450.2. [A0PJK1-1] # RefSeq NP_001257577 NM_001270648.1. [A0PJK1-2] # RefSeq NP_001257578 NM_001270649.1. [A0PJK1-5] # RefSeq NP_001269346 NM_001282417.1. [A0PJK1-3] # RefSeq NP_689564 NM_152351.4. [A0PJK1-4] # SEQUENCE CAUTION Sequence=BAB71619.1; Type=Frameshift; Positions=156; Evidence={ECO 0000305}; # SIMILARITY Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family. {ECO 0000305}. # SUBCELLULAR LOCATION SC5AA_HUMAN Cell membrane {ECO 0000269|PubMed 22212718}; Multi-pass membrane protein {ECO 0000269|PubMed 22212718}. # TCDB 2.A.21.3.15:the solute sodium symporter (sss) family # TIGRFAMs TIGR00813 sss # TISSUE SPECIFICITY Seems to be exclusively expressed in kidney. {ECO:0000269|PubMed 22212718}. # UCSC uc002gur human. [A0PJK1-1] # eggNOG COG4146 LUCA # eggNOG ENOG410IP49 Eukaryota BLAST swissprot:SC5AA_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SC5AA_HUMAN COXPRESdb 125206 http://coxpresdb.jp/data/gene/125206.shtml CleanEx HS_SLC5A10 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC5A10 DOI 10.1016/j.febslet.2011.12.027 http://dx.doi.org/10.1016/j.febslet.2011.12.027 DOI 10.1038/nature04689 http://dx.doi.org/10.1038/nature04689 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/scisignal.2000007 http://dx.doi.org/10.1126/scisignal.2000007 EMBL AC003957 http://www.ebi.ac.uk/ena/data/view/AC003957 EMBL AC090286 http://www.ebi.ac.uk/ena/data/view/AC090286 EMBL AK057946 http://www.ebi.ac.uk/ena/data/view/AK057946 EMBL AK298345 http://www.ebi.ac.uk/ena/data/view/AK298345 EMBL BC034380 http://www.ebi.ac.uk/ena/data/view/BC034380 EMBL BC039868 http://www.ebi.ac.uk/ena/data/view/BC039868 EMBL BC062617 http://www.ebi.ac.uk/ena/data/view/BC062617 Ensembl ENST00000317977 http://www.ensembl.org/id/ENST00000317977 Ensembl ENST00000395643 http://www.ensembl.org/id/ENST00000395643 Ensembl ENST00000395645 http://www.ensembl.org/id/ENST00000395645 Ensembl ENST00000395647 http://www.ensembl.org/id/ENST00000395647 Ensembl ENST00000417251 http://www.ensembl.org/id/ENST00000417251 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0015293 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015293 GO_process GO:0006814 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006814 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GeneCards SLC5A10 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC5A10 GeneID 125206 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=125206 GeneTree ENSGT00760000118955 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118955 H-InvDB HIX0018725 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0018725 HGNC HGNC:23155 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:23155 HOGENOM HOG000025422 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000025422&db=HOGENOM6 HOVERGEN HBG052859 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052859&db=HOVERGEN HPA HPA052014 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA052014 InParanoid A0PJK1 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=A0PJK1 InterPro IPR001734 http://www.ebi.ac.uk/interpro/entry/IPR001734 InterPro IPR018212 http://www.ebi.ac.uk/interpro/entry/IPR018212 Jabion 125206 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=125206 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:125206 http://www.genome.jp/dbget-bin/www_bget?hsa:125206 KEGG_Orthology KO:K14390 http://www.genome.jp/dbget-bin/www_bget?KO:K14390 MINT MINT-4722994 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-4722994 OMA IFWQRAN http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=IFWQRAN OrthoDB EOG091G077U http://cegg.unige.ch/orthodb/results?searchtext=EOG091G077U PANTHER PTHR11819 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11819 PROSITE PS00457 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00457 PROSITE PS50283 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50283 PSORT swissprot:SC5AA_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SC5AA_HUMAN PSORT-B swissprot:SC5AA_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SC5AA_HUMAN PSORT2 swissprot:SC5AA_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SC5AA_HUMAN Pfam PF00474 http://pfam.xfam.org/family/PF00474 PharmGKB PA134940254 http://www.pharmgkb.org/do/serve?objId=PA134940254&objCls=Gene Phobius swissprot:SC5AA_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SC5AA_HUMAN PhylomeDB A0PJK1 http://phylomedb.org/?seqid=A0PJK1 ProteinModelPortal A0PJK1 http://www.proteinmodelportal.org/query/uniprot/A0PJK1 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16625196 http://www.ncbi.nlm.nih.gov/pubmed/16625196 PubMed 19690332 http://www.ncbi.nlm.nih.gov/pubmed/19690332 PubMed 22212718 http://www.ncbi.nlm.nih.gov/pubmed/22212718 Reactome R-HSA-189200 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-189200 RefSeq NP_001035915 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001035915 RefSeq NP_001257577 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001257577 RefSeq NP_001257578 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001257578 RefSeq NP_001269346 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001269346 RefSeq NP_689564 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_689564 STRING 9606.ENSP00000379008 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000379008&targetmode=cogs TCDB 2.A.21.3.15 http://www.tcdb.org/search/result.php?tc=2.A.21.3.15 TIGRFAMs TIGR00813 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00813 UCSC uc002gur http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002gur&org=rat UniGene Hs.462418 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.462418 UniProtKB SC5AA_HUMAN http://www.uniprot.org/uniprot/SC5AA_HUMAN UniProtKB-AC A0PJK1 http://www.uniprot.org/uniprot/A0PJK1 charge swissprot:SC5AA_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SC5AA_HUMAN eggNOG COG4146 http://eggnogapi.embl.de/nog_data/html/tree/COG4146 eggNOG ENOG410IP49 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IP49 epestfind swissprot:SC5AA_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SC5AA_HUMAN garnier swissprot:SC5AA_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SC5AA_HUMAN helixturnhelix swissprot:SC5AA_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SC5AA_HUMAN hmoment swissprot:SC5AA_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SC5AA_HUMAN iep swissprot:SC5AA_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SC5AA_HUMAN inforesidue swissprot:SC5AA_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SC5AA_HUMAN neXtProt NX_A0PJK1 http://www.nextprot.org/db/entry/NX_A0PJK1 octanol swissprot:SC5AA_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SC5AA_HUMAN pepcoil swissprot:SC5AA_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SC5AA_HUMAN pepdigest swissprot:SC5AA_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SC5AA_HUMAN pepinfo swissprot:SC5AA_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SC5AA_HUMAN pepnet swissprot:SC5AA_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SC5AA_HUMAN pepstats swissprot:SC5AA_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SC5AA_HUMAN pepwheel swissprot:SC5AA_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SC5AA_HUMAN pepwindow swissprot:SC5AA_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SC5AA_HUMAN sigcleave swissprot:SC5AA_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SC5AA_HUMAN ## Database ID URL or Descriptions # AltName KCNA7_HUMAN Voltage-gated potassium channel subunit Kv1.7 # DOMAIN KCNA7_HUMAN The N-terminus may be important in determining the rate of inactivation of the channel while the tail may play a role in modulation of channel activity and/or targeting of the channel to specific subcellular compartments. {ECO 0000250}. # DOMAIN KCNA7_HUMAN The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position. {ECO 0000250}. # DrugBank DB06637 Dalfampridine # Ensembl ENST00000221444 ENSP00000221444; ENSG00000104848 # FUNCTION KCNA7_HUMAN Mediates the voltage-dependent potassium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a potassium-selective channel through which potassium ions may pass in accordance with their electrochemical gradient (By similarity). {ECO 0000250}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0008076 voltage-gated potassium channel complex; IEA:InterPro. # GO_component GO:0016021 integral component of membrane; IBA:GO_Central. # GO_function GO:0005251 delayed rectifier potassium channel activity; IBA:GO_Central. # GO_process GO:0051260 protein homooligomerization; IEA:InterPro. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006461 protein complex assembly # Gene3D 1.20.120.350 -; 1. # Genevisible Q96RP8 HS # HGNC HGNC:6226 KCNA7 # InterPro IPR000210 BTB/POZ_dom # InterPro IPR003131 T1-type_BTB # InterPro IPR003968 K_chnl_volt-dep_Kv # InterPro IPR003972 K_chnl_volt-dep_Kv1 # InterPro IPR005821 Ion_trans_dom # InterPro IPR011333 SKP1/BTB/POZ # InterPro IPR027359 Channel_four-helix_dom # InterPro IPR028325 VG_K_chnl # KEGG_Brite ko04040 Ion channels # MIM 176268 gene # Organism KCNA7_HUMAN Homo sapiens (Human) # PANTHER PTHR11537 PTHR11537; 2 # PRINTS PR00169 KCHANNEL # PRINTS PR01491 KVCHANNEL # PRINTS PR01496 SHAKERCHANEL # Pfam PF00520 Ion_trans # Pfam PF02214 BTB_2 # Proteomes UP000005640 Chromosome 19 # Reactome R-HSA-1296072 Voltage gated Potassium channels # RecName KCNA7_HUMAN Potassium voltage-gated channel subfamily A member 7 # RefSeq NP_114092 NM_031886.2 # SIMILARITY Belongs to the potassium channel family. A (Shaker) (TC 1.A.1.2) subfamily. Kv1.7/KCNA7 sub-subfamily. {ECO 0000305}. # SMART SM00225 BTB # SUBCELLULAR LOCATION KCNA7_HUMAN Membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. # SUBUNIT Heterotetramer of potassium channel proteins. {ECO 0000250}. # SUPFAM SSF54695 SSF54695 # TISSUE SPECIFICITY KCNA7_HUMAN Highly expressed in skeletal muscle, heart and kidney. {ECO 0000269|PubMed 11368907, ECO 0000269|PubMed 11896454}. # UCSC uc002pmg human # eggNOG COG1226 LUCA # eggNOG KOG1545 Eukaryota BLAST swissprot:KCNA7_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCNA7_HUMAN BioCyc ZFISH:ENSG00000104848-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000104848-MONOMER COXPRESdb 3743 http://coxpresdb.jp/data/gene/3743.shtml CleanEx HS_KCNA7 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNA7 DOI 10.1016/S0378-1119(01)00423-1 http://dx.doi.org/10.1016/S0378-1119(01)00423-1 DOI 10.1038/sj.ejhg.5200739 http://dx.doi.org/10.1038/sj.ejhg.5200739 DrugBank DB06637 http://www.drugbank.ca/drugs/DB06637 EMBL AF315818 http://www.ebi.ac.uk/ena/data/view/AF315818 EMBL AJ310479 http://www.ebi.ac.uk/ena/data/view/AJ310479 EMBL AY779768 http://www.ebi.ac.uk/ena/data/view/AY779768 Ensembl ENST00000221444 http://www.ensembl.org/id/ENST00000221444 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0008076 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008076 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005251 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005251 GO_process GO:0051260 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051260 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 Gene3D 1.20.120.350 http://www.cathdb.info/version/latest/superfamily/1.20.120.350 GeneCards KCNA7 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNA7 GeneID 3743 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=3743 GeneTree ENSGT00760000118846 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118846 HGNC HGNC:6226 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6226 HOGENOM HOG000231015 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231015&db=HOGENOM6 HOVERGEN HBG052230 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052230&db=HOVERGEN InParanoid Q96RP8 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q96RP8 InterPro IPR000210 http://www.ebi.ac.uk/interpro/entry/IPR000210 InterPro IPR003131 http://www.ebi.ac.uk/interpro/entry/IPR003131 InterPro IPR003968 http://www.ebi.ac.uk/interpro/entry/IPR003968 InterPro IPR003972 http://www.ebi.ac.uk/interpro/entry/IPR003972 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR011333 http://www.ebi.ac.uk/interpro/entry/IPR011333 InterPro IPR027359 http://www.ebi.ac.uk/interpro/entry/IPR027359 InterPro IPR028325 http://www.ebi.ac.uk/interpro/entry/IPR028325 Jabion 3743 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=3743 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:3743 http://www.genome.jp/dbget-bin/www_bget?hsa:3743 KEGG_Orthology KO:K04880 http://www.genome.jp/dbget-bin/www_bget?KO:K04880 MIM 176268 http://www.ncbi.nlm.nih.gov/omim/176268 OMA AMEPRCP http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=AMEPRCP OrthoDB EOG091G10NU http://cegg.unige.ch/orthodb/results?searchtext=EOG091G10NU PANTHER PTHR11537 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11537 PRINTS PR00169 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00169 PRINTS PR01491 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01491 PRINTS PR01496 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01496 PSORT swissprot:KCNA7_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCNA7_HUMAN PSORT-B swissprot:KCNA7_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCNA7_HUMAN PSORT2 swissprot:KCNA7_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCNA7_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF02214 http://pfam.xfam.org/family/PF02214 PharmGKB PA30023 http://www.pharmgkb.org/do/serve?objId=PA30023&objCls=Gene Phobius swissprot:KCNA7_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCNA7_HUMAN PhylomeDB Q96RP8 http://phylomedb.org/?seqid=Q96RP8 ProteinModelPortal Q96RP8 http://www.proteinmodelportal.org/query/uniprot/Q96RP8 PubMed 11368907 http://www.ncbi.nlm.nih.gov/pubmed/11368907 PubMed 11896454 http://www.ncbi.nlm.nih.gov/pubmed/11896454 Reactome R-HSA-1296072 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1296072 RefSeq NP_114092 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_114092 SMART SM00225 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00225 SMR Q96RP8 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q96RP8 STRING 9606.ENSP00000221444 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000221444&targetmode=cogs SUPFAM SSF54695 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF54695 UCSC uc002pmg http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002pmg&org=rat UniGene Hs.306973 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.306973 UniProtKB KCNA7_HUMAN http://www.uniprot.org/uniprot/KCNA7_HUMAN UniProtKB-AC Q96RP8 http://www.uniprot.org/uniprot/Q96RP8 charge swissprot:KCNA7_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCNA7_HUMAN eggNOG COG1226 http://eggnogapi.embl.de/nog_data/html/tree/COG1226 eggNOG KOG1545 http://eggnogapi.embl.de/nog_data/html/tree/KOG1545 epestfind swissprot:KCNA7_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCNA7_HUMAN garnier swissprot:KCNA7_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCNA7_HUMAN helixturnhelix swissprot:KCNA7_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCNA7_HUMAN hmoment swissprot:KCNA7_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCNA7_HUMAN iep swissprot:KCNA7_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCNA7_HUMAN inforesidue swissprot:KCNA7_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCNA7_HUMAN neXtProt NX_Q96RP8 http://www.nextprot.org/db/entry/NX_Q96RP8 octanol swissprot:KCNA7_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCNA7_HUMAN pepcoil swissprot:KCNA7_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCNA7_HUMAN pepdigest swissprot:KCNA7_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCNA7_HUMAN pepinfo swissprot:KCNA7_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCNA7_HUMAN pepnet swissprot:KCNA7_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCNA7_HUMAN pepstats swissprot:KCNA7_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCNA7_HUMAN pepwheel swissprot:KCNA7_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCNA7_HUMAN pepwindow swissprot:KCNA7_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCNA7_HUMAN sigcleave swissprot:KCNA7_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCNA7_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S39A8_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9C0K1-1; Sequence=Displayed; Name=2; IsoId=Q9C0K1-2; Sequence=VSP_029884, VSP_029885; Note=No experimental confirmation available.; Name=3; IsoId=Q9C0K1-3; Sequence=VSP_043675; Note=No experimental confirmation available.; # AltName S39A8_HUMAN BCG-induced integral membrane protein in monocyte clone 103 protein # AltName S39A8_HUMAN LIV-1 subfamily of ZIP zinc transporter 6 # AltName S39A8_HUMAN Solute carrier family 39 member 8 # AltName S39A8_HUMAN Zrt- and Irt-like protein 8 # BioGrid 122072 26 # CCDS CCDS3656 -. [Q9C0K1-1] # CCDS CCDS47117 -. [Q9C0K1-3] # ChiTaRS SLC39A8 human # DISEASE S39A8_HUMAN Congenital disorder of glycosylation 2N (CDG2N) [MIM 616721] A form of congenital disorder of glycosylation, a genetically heterogeneous group of autosomal recessive, multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. {ECO 0000269|PubMed 26637978, ECO 0000269|PubMed 26637979}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000356736 ENSP00000349174; ENSG00000138821. [Q9C0K1-1] # Ensembl ENST00000394833 ENSP00000378310; ENSG00000138821. [Q9C0K1-1] # Ensembl ENST00000424970 ENSP00000394548; ENSG00000138821. [Q9C0K1-3] # ExpressionAtlas Q9C0K1 baseline and differential # FUNCTION S39A8_HUMAN Acts as a manganese and zinc influx transporter (PubMed 12504855, PubMed 26637978). Plays a role in manganese reabsorption in the proximal tubule of the kidney and in manganese uptake into the brain (PubMed 26637978). {ECO 0000269|PubMed 12504855, ECO 0000305|PubMed 26637978}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0031090 organelle membrane; IDA:UniProtKB. # GO_function GO:0005385 zinc ion transmembrane transporter activity; IBA:GO_Central. # GO_process GO:0006829 zinc II ion transport; IMP:UniProtKB. # GO_process GO:0006882 cellular zinc ion homeostasis; IBA:GO_Central. # GO_process GO:0070574 cadmium ion transmembrane transport; IEA:Ensembl. # GO_process GO:0071578 zinc II ion transmembrane import; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Genevisible Q9C0K1 HS # HGNC HGNC:20862 SLC39A8 # INDUCTION By live and heat-killed Mycobacterium bovis bacterial cell wall and inflammatory cytokines like TNF. Down-regulated following phorbol ester treatment. {ECO:0000269|PubMed 12504855}. # InterPro IPR003689 ZIP # KEGG_Brite ko02001 Solute carrier family # KEGG_Disease H00119 [Inherited metabolic disease] Congenital disorders of glycosylation (CDG) type II # MIM 608732 gene # MIM 616721 phenotype # Organism S39A8_HUMAN Homo sapiens (Human) # Pfam PF02535 Zip # Proteomes UP000005640 Chromosome 4 # Reactome R-HSA-442380 Zinc influx into cells by the SLC39 gene family # RecName S39A8_HUMAN Zinc transporter ZIP8 # RefSeq NP_001128618 NM_001135146.1. [Q9C0K1-1] # RefSeq NP_001128619 NM_001135147.1. [Q9C0K1-3] # RefSeq NP_001128620 NM_001135148.1. [Q9C0K1-2] # RefSeq NP_071437 NM_022154.5. [Q9C0K1-1] # RefSeq XP_005263234 XM_005263177.1. [Q9C0K1-1] # RefSeq XP_016864029 XM_017008540.1. [Q9C0K1-1] # RefSeq XP_016864030 XM_017008541.1. [Q9C0K1-2] # SIMILARITY Belongs to the ZIP transporter (TC 2.A.5) family. {ECO 0000305}. # SUBCELLULAR LOCATION S39A8_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. Note=Associated with the lysosomal/endosomal compartment following transfection. {ECO 0000269|PubMed 12504855}. # TCDB 2.A.5.4.15 the zinc (zn(2+))-iron (fe(2+)) permease (zip) family # TISSUE SPECIFICITY Expressed in thymus, placenta, lung, liver, pancreas and, to a lower extent, in spleen, testis, ovary, small intestine, colon, leukocyte, heart. Highest expression is observed in pancreas. {ECO:0000269|PubMed 12504855}. # UCSC uc003hwb human. [Q9C0K1-1] # eggNOG COG0428 LUCA # eggNOG KOG2693 Eukaryota BLAST swissprot:S39A8_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S39A8_HUMAN BioCyc ZFISH:ENSG00000138821-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000138821-MONOMER COXPRESdb 64116 http://coxpresdb.jp/data/gene/64116.shtml CleanEx HS_SLC39A8 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC39A8 DOI 10.1006/geno.2002.7000 http://dx.doi.org/10.1006/geno.2002.7000 DOI 10.1016/j.ajhg.2015.11.002 http://dx.doi.org/10.1016/j.ajhg.2015.11.002 DOI 10.1016/j.ajhg.2015.11.003 http://dx.doi.org/10.1016/j.ajhg.2015.11.003 DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.0404089101 http://dx.doi.org/10.1073/pnas.0404089101 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AB020970 http://www.ebi.ac.uk/ena/data/view/AB020970 EMBL AB040120 http://www.ebi.ac.uk/ena/data/view/AB040120 EMBL AC098487 http://www.ebi.ac.uk/ena/data/view/AC098487 EMBL AF193052 http://www.ebi.ac.uk/ena/data/view/AF193052 EMBL AK027652 http://www.ebi.ac.uk/ena/data/view/AK027652 EMBL AK304274 http://www.ebi.ac.uk/ena/data/view/AK304274 EMBL AP002023 http://www.ebi.ac.uk/ena/data/view/AP002023 EMBL BC001320 http://www.ebi.ac.uk/ena/data/view/BC001320 EMBL BC012125 http://www.ebi.ac.uk/ena/data/view/BC012125 EMBL CH471057 http://www.ebi.ac.uk/ena/data/view/CH471057 Ensembl ENST00000356736 http://www.ensembl.org/id/ENST00000356736 Ensembl ENST00000394833 http://www.ensembl.org/id/ENST00000394833 Ensembl ENST00000424970 http://www.ensembl.org/id/ENST00000424970 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0031090 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031090 GO_function GO:0005385 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005385 GO_process GO:0006829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006829 GO_process GO:0006882 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006882 GO_process GO:0070574 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070574 GO_process GO:0071578 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071578 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC39A8 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC39A8 GeneID 64116 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=64116 GeneTree ENSGT00760000119115 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119115 HGNC HGNC:20862 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:20862 HOGENOM HOG000070225 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000070225&db=HOGENOM6 HOVERGEN HBG108450 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG108450&db=HOVERGEN HPA HPA038832 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA038832 HPA HPA038833 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA038833 InParanoid Q9C0K1 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9C0K1 InterPro IPR003689 http://www.ebi.ac.uk/interpro/entry/IPR003689 Jabion 64116 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=64116 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Disease H00119 http://www.genome.jp/dbget-bin/www_bget?H00119 KEGG_Gene hsa:64116 http://www.genome.jp/dbget-bin/www_bget?hsa:64116 KEGG_Orthology KO:K14714 http://www.genome.jp/dbget-bin/www_bget?KO:K14714 MIM 608732 http://www.ncbi.nlm.nih.gov/omim/608732 MIM 616721 http://www.ncbi.nlm.nih.gov/omim/616721 OMA FFVERVL http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=FFVERVL OrthoDB EOG091G064Y http://cegg.unige.ch/orthodb/results?searchtext=EOG091G064Y PSORT swissprot:S39A8_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S39A8_HUMAN PSORT-B swissprot:S39A8_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S39A8_HUMAN PSORT2 swissprot:S39A8_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S39A8_HUMAN Pfam PF02535 http://pfam.xfam.org/family/PF02535 PharmGKB PA134931507 http://www.pharmgkb.org/do/serve?objId=PA134931507&objCls=Gene Phobius swissprot:S39A8_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S39A8_HUMAN PhylomeDB Q9C0K1 http://phylomedb.org/?seqid=Q9C0K1 ProteinModelPortal Q9C0K1 http://www.proteinmodelportal.org/query/uniprot/Q9C0K1 PubMed 12504855 http://www.ncbi.nlm.nih.gov/pubmed/12504855 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15498874 http://www.ncbi.nlm.nih.gov/pubmed/15498874 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 PubMed 26637978 http://www.ncbi.nlm.nih.gov/pubmed/26637978 PubMed 26637979 http://www.ncbi.nlm.nih.gov/pubmed/26637979 Reactome R-HSA-442380 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-442380 RefSeq NP_001128618 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001128618 RefSeq NP_001128619 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001128619 RefSeq NP_001128620 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001128620 RefSeq NP_071437 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_071437 RefSeq XP_005263234 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005263234 RefSeq XP_016864029 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016864029 RefSeq XP_016864030 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016864030 SMR Q9C0K1 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9C0K1 STRING 9606.ENSP00000349174 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000349174&targetmode=cogs TCDB 2.A.5.4.15 http://www.tcdb.org/search/result.php?tc=2.A.5.4.15 UCSC uc003hwb http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003hwb&org=rat UniGene Hs.288034 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.288034 UniProtKB S39A8_HUMAN http://www.uniprot.org/uniprot/S39A8_HUMAN UniProtKB-AC Q9C0K1 http://www.uniprot.org/uniprot/Q9C0K1 charge swissprot:S39A8_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S39A8_HUMAN eggNOG COG0428 http://eggnogapi.embl.de/nog_data/html/tree/COG0428 eggNOG KOG2693 http://eggnogapi.embl.de/nog_data/html/tree/KOG2693 epestfind swissprot:S39A8_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S39A8_HUMAN garnier swissprot:S39A8_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S39A8_HUMAN helixturnhelix swissprot:S39A8_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S39A8_HUMAN hmoment swissprot:S39A8_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S39A8_HUMAN iep swissprot:S39A8_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S39A8_HUMAN inforesidue swissprot:S39A8_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S39A8_HUMAN neXtProt NX_Q9C0K1 http://www.nextprot.org/db/entry/NX_Q9C0K1 octanol swissprot:S39A8_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S39A8_HUMAN pepcoil swissprot:S39A8_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S39A8_HUMAN pepdigest swissprot:S39A8_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S39A8_HUMAN pepinfo swissprot:S39A8_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S39A8_HUMAN pepnet swissprot:S39A8_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S39A8_HUMAN pepstats swissprot:S39A8_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S39A8_HUMAN pepwheel swissprot:S39A8_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S39A8_HUMAN pepwindow swissprot:S39A8_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S39A8_HUMAN sigcleave swissprot:S39A8_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S39A8_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS CFTR_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=P13569-1; Sequence=Displayed; Name=2; IsoId=P13569-2; Sequence=VSP_022123; Note=Exon skipping favored by a high number of TG repeats and a low number of T repeats at the intron-exon boundary. Causes congenital bilateral absence of the vas deferens (CBAVD).; Name=3; IsoId=P13569-3; Sequence=VSP_022124, VSP_022125; Note=Alternative acceptor site favored by mutation in an exonic splicing enhancer (ESE). Causes cystic fibrosis (CF).; # AltName CFTR_HUMAN ATP-binding cassette sub-family C member 7 # AltName CFTR_HUMAN Channel conductance-controlling ATPase # AltName CFTR_HUMAN cAMP-dependent chloride channel # BRENDA 3.6.3.49 2681 # BioGrid 107506 274 # CATALYTIC ACTIVITY CFTR_HUMAN ATP + H(2)O = ADP + phosphate. # CCDS CCDS5773 -. [P13569-1] # DISEASE CFTR_HUMAN Congenital bilateral absence of the vas deferens (CBAVD) [MIM 277180] Important cause of sterility in men and could represent an incomplete form of cystic fibrosis, as the majority of men suffering from cystic fibrosis lack the vas deferens. {ECO 0000269|PubMed 10651488, ECO 0000269|PubMed 7529962, ECO 0000269|PubMed 7539342, ECO 0000269|PubMed 9067761, ECO 0000269|Ref.77}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE CFTR_HUMAN Cystic fibrosis (CF) [MIM 219700] A common generalized disorder of the exocrine glands which impairs clearance of secretions in a variety of organs. It is characterized by the triad of chronic bronchopulmonary disease (with recurrent respiratory infections), pancreatic insufficiency (which leads to malabsorption and growth retardation) and elevated sweat electrolytes. It is the most common genetic disease in Caucasians, with a prevalence of about 1 in 2'000 live births. Inheritance is autosomal recessive. {ECO 0000269|PubMed 10094564, ECO 0000269|PubMed 1284466, ECO 0000269|PubMed 1284468, ECO 0000269|PubMed 1284529, ECO 0000269|PubMed 1284530, ECO 0000269|PubMed 1695717, ECO 0000269|PubMed 1710600, ECO 0000269|PubMed 2236053, ECO 0000269|PubMed 7504969, ECO 0000269|PubMed 7505694, ECO 0000269|PubMed 7513296, ECO 0000269|PubMed 7517264, ECO 0000269|PubMed 7520022, ECO 0000269|PubMed 7522211, ECO 0000269|PubMed 7524909, ECO 0000269|PubMed 7524913, ECO 0000269|PubMed 7525450, ECO 0000269|PubMed 7537150, ECO 0000269|PubMed 7541273, ECO 0000269|PubMed 7541510, ECO 0000269|PubMed 7543567, ECO 0000269|PubMed 7544319, ECO 0000269|PubMed 7581407, ECO 0000269|PubMed 7680525, ECO 0000269|PubMed 7683628, ECO 0000269|PubMed 7683954, ECO 0000269|PubMed 8081395, ECO 0000269|PubMed 8522333, ECO 0000269|PubMed 8723693, ECO 0000269|PubMed 8723695, ECO 0000269|PubMed 8800923, ECO 0000269|PubMed 8829633, ECO 0000269|PubMed 8956039, ECO 0000269|PubMed 9101301, ECO 0000269|PubMed 9222768, ECO 0000269|PubMed 9375855, ECO 0000269|PubMed 9401006, ECO 0000269|PubMed 9443874, ECO 0000269|PubMed 9452048, ECO 0000269|PubMed 9452054, ECO 0000269|PubMed 9452073, ECO 0000269|PubMed 9482579, ECO 0000269|PubMed 9521595, ECO 0000269|PubMed 9554753, ECO 0000269|PubMed 9736778, ECO 0000269|PubMed 9921909}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DOMAIN CFTR_HUMAN The PDZ-binding motif mediates interactions with GOPC and with the SLC4A7, SLC9A3R1/EBP50 complex. # DrugBank DB00887 Bumetanide # DrugBank DB01016 Glyburide # DrugBank DB01050 Ibuprofen # DrugBank DB04941 Crofelemer # DrugBank DB08820 Ivacaftor # Ensembl ENST00000003084 ENSP00000003084; ENSG00000001626. [P13569-1] # ExpressionAtlas P13569 baseline and differential # FUNCTION CFTR_HUMAN Involved in the transport of chloride ions. May regulate bicarbonate secretion and salvage in epithelial cells by regulating the SLC4A7 transporter. Can inhibit the chloride channel activity of ANO1. Plays a role in the chloride and bicarbonate homeostasis during sperm epididymal maturation and capacitation. {ECO 0000269|PubMed 22178883}. # GO_component GO:0005737 cytoplasm; IDA:UniProtKB. # GO_component GO:0005765 lysosomal membrane; TAS:Reactome. # GO_component GO:0005769 early endosome; IDA:UniProtKB. # GO_component GO:0005829 cytosol; IDA:UniProtKB. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0009986 cell surface; IDA:UniProtKB. # GO_component GO:0016323 basolateral plasma membrane; NAS:UniProtKB. # GO_component GO:0016324 apical plasma membrane; IDA:UniProtKB. # GO_component GO:0030660 Golgi-associated vesicle membrane; TAS:Reactome. # GO_component GO:0031901 early endosome membrane; IEA:UniProtKB-SubCell. # GO_component GO:0034707 chloride channel complex; IEA:UniProtKB-KW. # GO_component GO:0043234 protein complex; IDA:UniProtKB. # GO_component GO:0055037 recycling endosome; IDA:UniProtKB. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0005224 ATP-binding and phosphorylation-dependent chloride channel activity; TAS:ProtInc. # GO_function GO:0005254 chloride channel activity; IDA:UniProtKB. # GO_function GO:0005260 channel-conductance-controlling ATPase activity; NAS:UniProtKB. # GO_function GO:0005524 ATP binding; TAS:ProtInc. # GO_function GO:0015106 bicarbonate transmembrane transporter activity; ISS:UniProtKB. # GO_function GO:0015108 chloride transmembrane transporter activity; ISS:UniProtKB. # GO_function GO:0017081 chloride channel regulator activity; TAS:Reactome. # GO_function GO:0019869 chloride channel inhibitor activity; IDA:UniProtKB. # GO_function GO:0019899 enzyme binding; IPI:UniProtKB. # GO_function GO:0030165 PDZ domain binding; IDA:UniProtKB. # GO_function GO:0043225 ATPase-coupled anion transmembrane transporter activity; TAS:Reactome. # GO_process GO:0006695 cholesterol biosynthetic process; IEA:Ensembl. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0006904 vesicle docking involved in exocytosis; IEA:Ensembl. # GO_process GO:0007585 respiratory gaseous exchange; TAS:ProtInc. # GO_process GO:0030301 cholesterol transport; IEA:Ensembl. # GO_process GO:0035774 positive regulation of insulin secretion involved in cellular response to glucose stimulus; IMP:UniProtKB. # GO_process GO:0045921 positive regulation of exocytosis; IMP:UniProtKB. # GO_process GO:0048240 sperm capacitation; ISS:UniProtKB. # GO_process GO:0051454 intracellular pH elevation; ISS:UniProtKB. # GO_process GO:0055085 transmembrane transport; TAS:Reactome. # GO_process GO:0060081 membrane hyperpolarization; ISS:UniProtKB. # GO_process GO:0071320 cellular response to cAMP; ISS:UniProtKB. # GO_process GO:1902161 positive regulation of cyclic nucleotide-gated ion channel activity; IMP:UniProtKB. # GO_process GO:1902476 chloride transmembrane transport; IMP:UniProtKB. # GO_process GO:1902943 positive regulation of voltage-gated chloride channel activity; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005768 endosome # GOslim_component GO:0005829 cytosol # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0019899 enzyme binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006629 lipid metabolic process # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0021700 developmental maturation # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0044281 small molecule metabolic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 3.40.50.300 -; 2. # Genevisible P13569 HS # HGNC HGNC:1884 CFTR # INTERACTION CFTR_HUMAN P51572 BCAP31; NbExp=3; IntAct=EBI-349854, EBI-77683; P27824 CANX; NbExp=3; IntAct=EBI-349854, EBI-355947; Q9BUN8 DERL1; NbExp=2; IntAct=EBI-349854, EBI-398977; Q9H8Y8 GORASP2; NbExp=3; IntAct=EBI-349854, EBI-739467; P19120 HSPA8 (xeno); NbExp=2; IntAct=EBI-349854, EBI-907802; P05787 KRT8; NbExp=7; IntAct=EBI-349854, EBI-297852; Q9HBW0 LPAR2; NbExp=4; IntAct=EBI-349854, EBI-765995; Q5T2W1 PDZK1; NbExp=2; IntAct=EBI-349854, EBI-349819; Q99942 RNF5; NbExp=3; IntAct=EBI-349854, EBI-348482; Q9QX74 Shank2 (xeno); NbExp=2; IntAct=EBI-349854, EBI-397902; Q96RN1 SLC26A8; NbExp=2; IntAct=EBI-349854, EBI-1792052; O14745 SLC9A3R1; NbExp=5; IntAct=EBI-349854, EBI-349787; Q15599 SLC9A3R2; NbExp=7; IntAct=EBI-349854, EBI-1149760; # IntAct P13569 138 # InterPro IPR003439 ABC_transporter-like # InterPro IPR003593 AAA+_ATPase # InterPro IPR009147 CFTR/ABCC7 # InterPro IPR011527 ABC1_TM_dom # InterPro IPR017871 ABC_transporter_CS # InterPro IPR025837 CFTR_reg_dom # InterPro IPR027417 P-loop_NTPase # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko01000 Enzymes # KEGG_Brite ko02000 Transporters # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00218 [Inherited metabolic disease; Digestive disease; Respiratory disease] Cystic fibrosis (CF) # KEGG_Disease H00933 [Pancreas disease] Hereditary chronic pancreatitis # KEGG_Disease H01033 [Reproductive system disease] Congenital bilateral absence of vas deferens # KEGG_Pathway ko02010 ABC transporters # KEGG_Pathway ko04971 Gastric acid secretion # KEGG_Pathway ko04972 Pancreatic secretion # KEGG_Pathway ko04976 Bile secretion # KEGG_Pathway ko05110 Vibrio cholerae infection # MIM 219700 phenotype # MIM 277180 phenotype # MIM 602421 gene # Organism CFTR_HUMAN Homo sapiens (Human) # Orphanet 399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation # Orphanet 48 Congenital bilateral absence of vas deferens # Orphanet 586 Cystic fibrosis # Orphanet 60033 Idiopathic bronchiectasis # Orphanet 676 Hereditary chronic pancreatitis # PANTHER PTHR24223:SF19 PTHR24223:SF19; 3 # PDB 1NBD Model; -; A=425-638 # PDB 1XMI X-ray; 2.25 A; A/B/C/D/E=389-678 # PDB 1XMJ X-ray; 2.30 A; A=389-677 # PDB 2BBO X-ray; 2.55 A; A=389-678 # PDB 2BBS X-ray; 2.05 A; A/B=389-677 # PDB 2BBT X-ray; 2.30 A; A/B=389-678 # PDB 2LOB NMR; -; B=1473-1480 # PDB 2PZE X-ray; 1.70 A; A/B=387-646 # PDB 2PZF X-ray; 2.00 A; A/B=387-646 # PDB 2PZG X-ray; 1.80 A; A/B=375-646 # PDB 3GD7 X-ray; 2.70 A; A/B/C/D=1193-1427 # PDB 3ISW X-ray; 2.80 A; C=5-20 # PDB 4WZ6 X-ray; 2.05 A; A=389-678 # PDB 5D2D X-ray; 2.10 A; C=747-774 # PDB 5D3E X-ray; 2.75 A; C/G/K=762-801 # PIR A39069 DVHUCF # PRINTS PR01851 CYSFIBREGLTR # PROSITE PS00211 ABC_TRANSPORTER_1 # PROSITE PS50893 ABC_TRANSPORTER_2; 2 # PROSITE PS50929 ABC_TM1F; 2 # PTM CFTR_HUMAN Phosphorylated; activates the channel. It is not clear whether PKC phosphorylation itself activates the channel or permits activation by phosphorylation at PKA sites. Phosphorylated by AMPK. {ECO 0000269|PubMed 12519745, ECO 0000269|PubMed 12588899, ECO 0000269|PubMed 1377674, ECO 0000269|PubMed 22119790, ECO 0000269|PubMed 9385646}. # PTM CFTR_HUMAN Ubiquitinated, leading to its degradation in the lysosome. Deubiquitination by USP10 in early endosomes, enhances its endocytic recycling. Ubiquitinated by RNF185 during ER stress. {ECO 0000269|PubMed 19398555, ECO 0000269|PubMed 22119790, ECO 0000269|PubMed 24019521}. # Pfam PF00005 ABC_tran; 2 # Pfam PF00664 ABC_membrane; 2 # Pfam PF14396 CFTR_R # Proteomes UP000005640 Chromosome 7 # Reactome R-HSA-382556 ABC-family proteins mediated transport # Reactome R-HSA-5627083 RHO GTPases regulate CFTR trafficking # Reactome R-HSA-5678895 Defective CFTR causes cystic fibrosis # Reactome R-HSA-5689880 Ub-specific processing proteases # Reactome R-HSA-8856825 Cargo recognition for clathrin-mediated endocytosis # Reactome R-HSA-8856828 Clathrin-mediated endocytosis # RecName CFTR_HUMAN Cystic fibrosis transmembrane conductance regulator # RefSeq NP_000483 NM_000492.3. [P13569-1] # SIMILARITY Belongs to the ABC transporter superfamily. ABCC family. CFTR transporter (TC 3.A.1.202) subfamily. {ECO 0000305}. # SIMILARITY Contains 2 ABC transmembrane type-1 domains. {ECO:0000255|PROSITE-ProRule PRU00441}. # SIMILARITY Contains 2 ABC transporter domains. {ECO:0000255|PROSITE-ProRule PRU00434}. # SMART SM00382 AAA; 2 # SUBCELLULAR LOCATION CFTR_HUMAN Early endosome membrane {ECO 0000269|PubMed 19398555}; Multi-pass membrane protein {ECO 0000255}. Cell membrane {ECO 0000269|PubMed 22178883}; Multi- pass membrane protein {ECO 0000255}. Note=In the oviduct and bronchus, detected on the apical side of epithelial cells, but not associated with cilia. {ECO 0000269|PubMed 22207244}. # SUBUNIT CFTR_HUMAN Interacts with SLC26A3, SLC26A6 and SHANK2 (By similarity). Interacts with SLC9A3R1, MYO6 and GOPC. Interacts with SLC4A7 through SLC9A3R1. Found in a complex with MYO5B and RAB11A. Interacts with ANO1. Interacts with SLC26A8. Interacts with AHCYL1; the interaction increases CFTR activity (By similarity). {ECO 0000250|UniProtKB P26361, ECO 0000269|PubMed 11304524, ECO 0000269|PubMed 11707463, ECO 0000269|PubMed 12403779, ECO 0000269|PubMed 15247260, ECO 0000269|PubMed 17462998, ECO 0000269|PubMed 22121115, ECO 0000269|PubMed 22178883}. # SUPFAM SSF52540 SSF52540; 2 # SUPFAM SSF90123 SSF90123; 2 # TCDB 3.A.1.202 the atp-binding cassette (abc) superfamily # TIGRFAMs TIGR01271 CFTR_protein # TISSUE SPECIFICITY Expressed in the respiratory airway, including bronchial epithelium, and in the female reproductive tract, including oviduct (at protein level). {ECO:0000269|PubMed 22207244}. # UCSC uc003vjd human. [P13569-1] # WEB RESOURCE CFTR_HUMAN Name=ABCMdb; Note=Database for mutations in ABC proteins; URL="http //abcmutations.hegelab.org/proteinDetails?uniprot_id=P13569"; # WEB RESOURCE CFTR_HUMAN Name=CFTR; Note=Cystic fibrosis mutation db; URL="http //www.genet.sickkids.on.ca/cftr/app"; # WEB RESOURCE CFTR_HUMAN Name=Wikipedia; Note=CFTR entry; URL="https //en.wikipedia.org/wiki/Cystic_fibrosis_transmembrane_conductance_regulator"; # eggNOG COG1132 LUCA # eggNOG KOG0054 Eukaryota BLAST swissprot:CFTR_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CFTR_HUMAN BioCyc MetaCyc:HS00075-MONOMER http://biocyc.org/getid?id=MetaCyc:HS00075-MONOMER BioCyc ZFISH:HS00075-MONOMER http://biocyc.org/getid?id=ZFISH:HS00075-MONOMER COXPRESdb 1080 http://coxpresdb.jp/data/gene/1080.shtml CleanEx HS_CFTR http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CFTR DIP DIP-32788N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-32788N DOI 10.1002/(SICI)1097-0134(19980215)30:3<275::AID-PROT7>3.3.CO http://dx.doi.org/10.1002/(SICI)1097-0134(19980215)30:3<275::AID-PROT7>3.3.CO DOI 10.1002/(SICI)1098-1004(1996)7:2<151::AID-HUMU10>3.0.CO http://dx.doi.org/10.1002/(SICI)1098-1004(1996)7:2<151::AID-HUMU10>3.0.CO DOI 10.1002/(SICI)1098-1004(1996)7:4<375::AID-HUMU17>3.3.CO http://dx.doi.org/10.1002/(SICI)1098-1004(1996)7:4<375::AID-HUMU17>3.3.CO DOI 10.1002/(SICI)1098-1004(1996)7:4<376::AID-HUMU18>3.3.CO http://dx.doi.org/10.1002/(SICI)1098-1004(1996)7:4<376::AID-HUMU18>3.3.CO DOI 10.1002/(SICI)1098-1004(1996)8:4<340::AID-HUMU7>3.3.CO http://dx.doi.org/10.1002/(SICI)1098-1004(1996)8:4<340::AID-HUMU7>3.3.CO DOI 10.1002/(SICI)1098-1004(1997)10:1<86::AID-HUMU15>3.0.CO http://dx.doi.org/10.1002/(SICI)1098-1004(1997)10:1<86::AID-HUMU15>3.0.CO DOI 10.1002/(SICI)1098-1004(1997)10:5<387::AID-HUMU9>3.3.CO http://dx.doi.org/10.1002/(SICI)1098-1004(1997)10:5<387::AID-HUMU9>3.3.CO DOI 10.1002/(SICI)1098-1004(1997)10:6<436::AID-HUMU4>3.0.CO http://dx.doi.org/10.1002/(SICI)1098-1004(1997)10:6<436::AID-HUMU4>3.0.CO DOI 10.1002/(SICI)1098-1004(1997)9:2<183::AID-HUMU13>3.0.CO http://dx.doi.org/10.1002/(SICI)1098-1004(1997)9:2<183::AID-HUMU13>3.0.CO DOI 10.1002/(SICI)1098-1004(1997)9:4<368::AID-HUMU13>3.3.CO http://dx.doi.org/10.1002/(SICI)1098-1004(1997)9:4<368::AID-HUMU13>3.3.CO DOI 10.1002/(SICI)1098-1004(1998)11:2<152::AID-HUMU8>3.0.CO http://dx.doi.org/10.1002/(SICI)1098-1004(1998)11:2<152::AID-HUMU8>3.0.CO DOI 10.1002/(SICI)1098-1004(1999)13:2<173::AID-HUMU20>3.0.CO http://dx.doi.org/10.1002/(SICI)1098-1004(1999)13:2<173::AID-HUMU20>3.0.CO DOI 10.1002/humu.1380010304 http://dx.doi.org/10.1002/humu.1380010304 DOI 10.1002/humu.1380020511 http://dx.doi.org/10.1002/humu.1380020511 DOI 10.1002/humu.1380030308 http://dx.doi.org/10.1002/humu.1380030308 DOI 10.1002/humu.1380030412 http://dx.doi.org/10.1002/humu.1380030412 DOI 10.1002/humu.1380050106 http://dx.doi.org/10.1002/humu.1380050106 DOI 10.1002/humu.1380050304 http://dx.doi.org/10.1002/humu.1380050304 DOI 10.1002/humu.1380060216 http://dx.doi.org/10.1002/humu.1380060216 DOI 10.1002/pro.5560061117 http://dx.doi.org/10.1002/pro.5560061117 DOI 10.1006/geno.1993.1183 http://dx.doi.org/10.1006/geno.1993.1183 DOI 10.1006/geno.1994.1290 http://dx.doi.org/10.1006/geno.1994.1290 DOI 10.1007/BF00202817 http://dx.doi.org/10.1007/BF00202817 DOI 10.1007/BF00210305 http://dx.doi.org/10.1007/BF00210305 DOI 10.1007/BF00210414 http://dx.doi.org/10.1007/BF00210414 DOI 10.1007/BF00211022 http://dx.doi.org/10.1007/BF00211022 DOI 10.1007/s00418-011-0904-1 http://dx.doi.org/10.1007/s00418-011-0904-1 DOI 10.1007/s004390050683 http://dx.doi.org/10.1007/s004390050683 DOI 10.1007/s004390050897 http://dx.doi.org/10.1007/s004390050897 DOI 10.1016/0888-7543(91)90503-7 http://dx.doi.org/10.1016/0888-7543(91)90503-7 DOI 10.1016/0888-7543(91)90510-L http://dx.doi.org/10.1016/0888-7543(91)90510-L DOI 10.1016/S0022-3476(95)70310-1 http://dx.doi.org/10.1016/S0022-3476(95)70310-1 DOI 10.1016/S0890-8508(95)80038-7 http://dx.doi.org/10.1016/S0890-8508(95)80038-7 DOI 10.1038/346366a0 http://dx.doi.org/10.1038/346366a0 DOI 10.1038/nature01782 http://dx.doi.org/10.1038/nature01782 DOI 10.1038/nature07485 http://dx.doi.org/10.1038/nature07485 DOI 10.1073/pnas.87.21.8447 http://dx.doi.org/10.1073/pnas.87.21.8447 DOI 10.1074/jbc.C100154200 http://dx.doi.org/10.1074/jbc.C100154200 DOI 10.1074/jbc.M109.001685 http://dx.doi.org/10.1074/jbc.M109.001685 DOI 10.1074/jbc.M110177200 http://dx.doi.org/10.1074/jbc.M110177200 DOI 10.1074/jbc.M113.470500 http://dx.doi.org/10.1074/jbc.M113.470500 DOI 10.1074/jbc.M201862200 http://dx.doi.org/10.1074/jbc.M201862200 DOI 10.1074/jbc.M403141200 http://dx.doi.org/10.1074/jbc.M403141200 DOI 10.1074/jbc.M608531200 http://dx.doi.org/10.1074/jbc.M608531200 DOI 10.1074/jbc.M910165199 http://dx.doi.org/10.1074/jbc.M910165199 DOI 10.1086/301681 http://dx.doi.org/10.1086/301681 DOI 10.1093/hmg/1.1.11 http://dx.doi.org/10.1093/hmg/1.1.11 DOI 10.1093/hmg/1.2.123 http://dx.doi.org/10.1093/hmg/1.2.123 DOI 10.1093/hmg/1.6.439 http://dx.doi.org/10.1093/hmg/1.6.439 DOI 10.1093/hmg/1.6.441 http://dx.doi.org/10.1093/hmg/1.6.441 DOI 10.1093/hmg/2.1.79 http://dx.doi.org/10.1093/hmg/2.1.79 DOI 10.1093/hmg/2.10.1741 http://dx.doi.org/10.1093/hmg/2.10.1741 DOI 10.1093/hmg/3.6.1001 http://dx.doi.org/10.1093/hmg/3.6.1001 DOI 10.1093/hmg/3.6.999 http://dx.doi.org/10.1093/hmg/3.6.999 DOI 10.1093/hmg/7.11.1761 http://dx.doi.org/10.1093/hmg/7.11.1761 DOI 10.1093/hmg/ddg215 http://dx.doi.org/10.1093/hmg/ddg215 DOI 10.1093/hmg/ddr558 http://dx.doi.org/10.1093/hmg/ddr558 DOI 10.1093/protein/gzr054 http://dx.doi.org/10.1093/protein/gzr054 DOI 10.1113/jphysiol.2002.035790 http://dx.doi.org/10.1113/jphysiol.2002.035790 DOI 10.1126/science.1083423 http://dx.doi.org/10.1126/science.1083423 DOI 10.1126/science.2475911 http://dx.doi.org/10.1126/science.2475911 DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 DOI 10.1152/ajpcell.00227.2002 http://dx.doi.org/10.1152/ajpcell.00227.2002 DOI 10.1159/000335765 http://dx.doi.org/10.1159/000335765 DisProt DP00012 http://www.disprot.org/protein.php?id=DP00012 DrugBank DB00887 http://www.drugbank.ca/drugs/DB00887 DrugBank DB01016 http://www.drugbank.ca/drugs/DB01016 DrugBank DB01050 http://www.drugbank.ca/drugs/DB01050 DrugBank DB04941 http://www.drugbank.ca/drugs/DB04941 DrugBank DB08820 http://www.drugbank.ca/drugs/DB08820 EC_number EC:3.6.3.49 http://www.genome.jp/dbget-bin/www_bget?EC:3.6.3.49 EMBL AC000061 http://www.ebi.ac.uk/ena/data/view/AC000061 EMBL AC000111 http://www.ebi.ac.uk/ena/data/view/AC000111 EMBL CH236947 http://www.ebi.ac.uk/ena/data/view/CH236947 EMBL DQ354388 http://www.ebi.ac.uk/ena/data/view/DQ354388 EMBL DQ354389 http://www.ebi.ac.uk/ena/data/view/DQ354389 EMBL DQ354390 http://www.ebi.ac.uk/ena/data/view/DQ354390 EMBL DQ354391 http://www.ebi.ac.uk/ena/data/view/DQ354391 EMBL DQ356258 http://www.ebi.ac.uk/ena/data/view/DQ356258 EMBL DQ356259 http://www.ebi.ac.uk/ena/data/view/DQ356259 EMBL DQ356261 http://www.ebi.ac.uk/ena/data/view/DQ356261 EMBL DQ356262 http://www.ebi.ac.uk/ena/data/view/DQ356262 EMBL DQ356263 http://www.ebi.ac.uk/ena/data/view/DQ356263 EMBL DQ356264 http://www.ebi.ac.uk/ena/data/view/DQ356264 EMBL DQ388128 http://www.ebi.ac.uk/ena/data/view/DQ388128 EMBL DQ388129 http://www.ebi.ac.uk/ena/data/view/DQ388129 EMBL DQ388131 http://www.ebi.ac.uk/ena/data/view/DQ388131 EMBL DQ388132 http://www.ebi.ac.uk/ena/data/view/DQ388132 EMBL DQ388133 http://www.ebi.ac.uk/ena/data/view/DQ388133 EMBL DQ388134 http://www.ebi.ac.uk/ena/data/view/DQ388134 EMBL DQ388135 http://www.ebi.ac.uk/ena/data/view/DQ388135 EMBL DQ388138 http://www.ebi.ac.uk/ena/data/view/DQ388138 EMBL DQ388139 http://www.ebi.ac.uk/ena/data/view/DQ388139 EMBL DQ388140 http://www.ebi.ac.uk/ena/data/view/DQ388140 EMBL DQ388141 http://www.ebi.ac.uk/ena/data/view/DQ388141 EMBL DQ388142 http://www.ebi.ac.uk/ena/data/view/DQ388142 EMBL DQ388143 http://www.ebi.ac.uk/ena/data/view/DQ388143 EMBL DQ388145 http://www.ebi.ac.uk/ena/data/view/DQ388145 EMBL M28668 http://www.ebi.ac.uk/ena/data/view/M28668 EMBL M55106 http://www.ebi.ac.uk/ena/data/view/M55106 EMBL M55107 http://www.ebi.ac.uk/ena/data/view/M55107 EMBL M55108 http://www.ebi.ac.uk/ena/data/view/M55108 EMBL M55110 http://www.ebi.ac.uk/ena/data/view/M55110 EMBL M55111 http://www.ebi.ac.uk/ena/data/view/M55111 EMBL M55112 http://www.ebi.ac.uk/ena/data/view/M55112 EMBL M55113 http://www.ebi.ac.uk/ena/data/view/M55113 EMBL M55114 http://www.ebi.ac.uk/ena/data/view/M55114 EMBL M55115 http://www.ebi.ac.uk/ena/data/view/M55115 EMBL M55116 http://www.ebi.ac.uk/ena/data/view/M55116 EMBL M55117 http://www.ebi.ac.uk/ena/data/view/M55117 EMBL M55118 http://www.ebi.ac.uk/ena/data/view/M55118 EMBL M55119 http://www.ebi.ac.uk/ena/data/view/M55119 EMBL M55120 http://www.ebi.ac.uk/ena/data/view/M55120 EMBL M55121 http://www.ebi.ac.uk/ena/data/view/M55121 EMBL M55122 http://www.ebi.ac.uk/ena/data/view/M55122 EMBL M55123 http://www.ebi.ac.uk/ena/data/view/M55123 EMBL M55124 http://www.ebi.ac.uk/ena/data/view/M55124 EMBL M55125 http://www.ebi.ac.uk/ena/data/view/M55125 EMBL M55126 http://www.ebi.ac.uk/ena/data/view/M55126 EMBL M55127 http://www.ebi.ac.uk/ena/data/view/M55127 EMBL M55128 http://www.ebi.ac.uk/ena/data/view/M55128 EMBL M55129 http://www.ebi.ac.uk/ena/data/view/M55129 EMBL M55130 http://www.ebi.ac.uk/ena/data/view/M55130 EMBL M55131 http://www.ebi.ac.uk/ena/data/view/M55131 EMBL M65196 http://www.ebi.ac.uk/ena/data/view/M65196 EMBL M65197 http://www.ebi.ac.uk/ena/data/view/M65197 ENZYME 3.6.3.49 http://enzyme.expasy.org/EC/3.6.3.49 Ensembl ENST00000003084 http://www.ensembl.org/id/ENST00000003084 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005765 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005765 GO_component GO:0005769 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005769 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0009986 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009986 GO_component GO:0016323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016323 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:0030660 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030660 GO_component GO:0031901 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031901 GO_component GO:0034707 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034707 GO_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GO_component GO:0055037 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055037 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0005224 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005224 GO_function GO:0005254 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005254 GO_function GO:0005260 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005260 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0015106 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015106 GO_function GO:0015108 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015108 GO_function GO:0017081 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0017081 GO_function GO:0019869 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019869 GO_function GO:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GO_function GO:0030165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030165 GO_function GO:0043225 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043225 GO_process GO:0006695 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006695 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0006904 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006904 GO_process GO:0007585 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007585 GO_process GO:0030301 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030301 GO_process GO:0035774 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035774 GO_process GO:0045921 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045921 GO_process GO:0048240 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048240 GO_process GO:0051454 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051454 GO_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GO_process GO:0060081 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060081 GO_process GO:0071320 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071320 GO_process GO:1902161 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902161 GO_process GO:1902476 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902476 GO_process GO:1902943 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902943 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006629 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006629 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0021700 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021700 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 3.40.50.300 http://www.cathdb.info/version/latest/superfamily/3.40.50.300 GeneCards CFTR http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CFTR GeneID 1080 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=1080 GeneTree ENSGT00860000133687 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00860000133687 HGNC HGNC:1884 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:1884 HOVERGEN HBG004169 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG004169&db=HOVERGEN HPA CAB001951 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB001951 HPA HPA021939 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA021939 InParanoid P13569 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P13569 IntAct P13569 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P13569* IntEnz 3.6.3.49 http://www.ebi.ac.uk/intenz/query?cmd=Search&q=3.6.3.49 InterPro IPR003439 http://www.ebi.ac.uk/interpro/entry/IPR003439 InterPro IPR003593 http://www.ebi.ac.uk/interpro/entry/IPR003593 InterPro IPR009147 http://www.ebi.ac.uk/interpro/entry/IPR009147 InterPro IPR011527 http://www.ebi.ac.uk/interpro/entry/IPR011527 InterPro IPR017871 http://www.ebi.ac.uk/interpro/entry/IPR017871 InterPro IPR025837 http://www.ebi.ac.uk/interpro/entry/IPR025837 InterPro IPR027417 http://www.ebi.ac.uk/interpro/entry/IPR027417 Jabion 1080 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=1080 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00218 http://www.genome.jp/dbget-bin/www_bget?H00218 KEGG_Disease H00933 http://www.genome.jp/dbget-bin/www_bget?H00933 KEGG_Disease H01033 http://www.genome.jp/dbget-bin/www_bget?H01033 KEGG_Gene hsa:1080 http://www.genome.jp/dbget-bin/www_bget?hsa:1080 KEGG_Orthology KO:K05031 http://www.genome.jp/dbget-bin/www_bget?KO:K05031 KEGG_Pathway ko02010 http://www.genome.jp/kegg-bin/show_pathway?ko02010 KEGG_Pathway ko04971 http://www.genome.jp/kegg-bin/show_pathway?ko04971 KEGG_Pathway ko04972 http://www.genome.jp/kegg-bin/show_pathway?ko04972 KEGG_Pathway ko04976 http://www.genome.jp/kegg-bin/show_pathway?ko04976 KEGG_Pathway ko05110 http://www.genome.jp/kegg-bin/show_pathway?ko05110 MIM 219700 http://www.ncbi.nlm.nih.gov/omim/219700 MIM 277180 http://www.ncbi.nlm.nih.gov/omim/277180 MIM 602421 http://www.ncbi.nlm.nih.gov/omim/602421 MINT MINT-148539 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-148539 OMA NALRRCF http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=NALRRCF Orphanet 399805 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=399805 Orphanet 48 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=48 Orphanet 586 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=586 Orphanet 60033 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=60033 Orphanet 676 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=676 OrthoDB EOG091G00K4 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G00K4 PANTHER PTHR24223:SF19 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24223:SF19 PDB 1NBD http://www.ebi.ac.uk/pdbe-srv/view/entry/1NBD PDB 1XMI http://www.ebi.ac.uk/pdbe-srv/view/entry/1XMI PDB 1XMJ http://www.ebi.ac.uk/pdbe-srv/view/entry/1XMJ PDB 2BBO http://www.ebi.ac.uk/pdbe-srv/view/entry/2BBO PDB 2BBS http://www.ebi.ac.uk/pdbe-srv/view/entry/2BBS PDB 2BBT http://www.ebi.ac.uk/pdbe-srv/view/entry/2BBT PDB 2LOB http://www.ebi.ac.uk/pdbe-srv/view/entry/2LOB PDB 2PZE http://www.ebi.ac.uk/pdbe-srv/view/entry/2PZE PDB 2PZF http://www.ebi.ac.uk/pdbe-srv/view/entry/2PZF PDB 2PZG http://www.ebi.ac.uk/pdbe-srv/view/entry/2PZG PDB 3GD7 http://www.ebi.ac.uk/pdbe-srv/view/entry/3GD7 PDB 3ISW http://www.ebi.ac.uk/pdbe-srv/view/entry/3ISW PDB 4WZ6 http://www.ebi.ac.uk/pdbe-srv/view/entry/4WZ6 PDB 5D2D http://www.ebi.ac.uk/pdbe-srv/view/entry/5D2D PDB 5D3E http://www.ebi.ac.uk/pdbe-srv/view/entry/5D3E PDBsum 1NBD http://www.ebi.ac.uk/pdbsum/1NBD PDBsum 1XMI http://www.ebi.ac.uk/pdbsum/1XMI PDBsum 1XMJ http://www.ebi.ac.uk/pdbsum/1XMJ PDBsum 2BBO http://www.ebi.ac.uk/pdbsum/2BBO PDBsum 2BBS http://www.ebi.ac.uk/pdbsum/2BBS PDBsum 2BBT http://www.ebi.ac.uk/pdbsum/2BBT PDBsum 2LOB http://www.ebi.ac.uk/pdbsum/2LOB PDBsum 2PZE http://www.ebi.ac.uk/pdbsum/2PZE PDBsum 2PZF http://www.ebi.ac.uk/pdbsum/2PZF PDBsum 2PZG http://www.ebi.ac.uk/pdbsum/2PZG PDBsum 3GD7 http://www.ebi.ac.uk/pdbsum/3GD7 PDBsum 3ISW http://www.ebi.ac.uk/pdbsum/3ISW PDBsum 4WZ6 http://www.ebi.ac.uk/pdbsum/4WZ6 PDBsum 5D2D http://www.ebi.ac.uk/pdbsum/5D2D PDBsum 5D3E http://www.ebi.ac.uk/pdbsum/5D3E PRINTS PR01851 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01851 PROSITE PS00211 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00211 PROSITE PS50893 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50893 PROSITE PS50929 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50929 PSORT swissprot:CFTR_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CFTR_HUMAN PSORT-B swissprot:CFTR_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CFTR_HUMAN PSORT2 swissprot:CFTR_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CFTR_HUMAN Pfam PF00005 http://pfam.xfam.org/family/PF00005 Pfam PF00664 http://pfam.xfam.org/family/PF00664 Pfam PF14396 http://pfam.xfam.org/family/PF14396 PharmGKB PA109 http://www.pharmgkb.org/do/serve?objId=PA109&objCls=Gene Phobius swissprot:CFTR_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CFTR_HUMAN PhylomeDB P13569 http://phylomedb.org/?seqid=P13569 ProteinModelPortal P13569 http://www.proteinmodelportal.org/query/uniprot/P13569 PubMed 10094564 http://www.ncbi.nlm.nih.gov/pubmed/10094564 PubMed 10651488 http://www.ncbi.nlm.nih.gov/pubmed/10651488 PubMed 10766763 http://www.ncbi.nlm.nih.gov/pubmed/10766763 PubMed 11304524 http://www.ncbi.nlm.nih.gov/pubmed/11304524 PubMed 11707463 http://www.ncbi.nlm.nih.gov/pubmed/11707463 PubMed 12403779 http://www.ncbi.nlm.nih.gov/pubmed/12403779 PubMed 12519745 http://www.ncbi.nlm.nih.gov/pubmed/12519745 PubMed 12588899 http://www.ncbi.nlm.nih.gov/pubmed/12588899 PubMed 12690205 http://www.ncbi.nlm.nih.gov/pubmed/12690205 PubMed 1284466 http://www.ncbi.nlm.nih.gov/pubmed/1284466 PubMed 1284468 http://www.ncbi.nlm.nih.gov/pubmed/1284468 PubMed 1284529 http://www.ncbi.nlm.nih.gov/pubmed/1284529 PubMed 1284530 http://www.ncbi.nlm.nih.gov/pubmed/1284530 PubMed 1284534 http://www.ncbi.nlm.nih.gov/pubmed/1284534 PubMed 12853948 http://www.ncbi.nlm.nih.gov/pubmed/12853948 PubMed 12913074 http://www.ncbi.nlm.nih.gov/pubmed/12913074 PubMed 1377674 http://www.ncbi.nlm.nih.gov/pubmed/1377674 PubMed 1378801 http://www.ncbi.nlm.nih.gov/pubmed/1378801 PubMed 15247260 http://www.ncbi.nlm.nih.gov/pubmed/15247260 PubMed 1695717 http://www.ncbi.nlm.nih.gov/pubmed/1695717 PubMed 1710598 http://www.ncbi.nlm.nih.gov/pubmed/1710598 PubMed 1710600 http://www.ncbi.nlm.nih.gov/pubmed/1710600 PubMed 17462998 http://www.ncbi.nlm.nih.gov/pubmed/17462998 PubMed 18987736 http://www.ncbi.nlm.nih.gov/pubmed/18987736 PubMed 19398555 http://www.ncbi.nlm.nih.gov/pubmed/19398555 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 22119790 http://www.ncbi.nlm.nih.gov/pubmed/22119790 PubMed 22121115 http://www.ncbi.nlm.nih.gov/pubmed/22121115 PubMed 22178883 http://www.ncbi.nlm.nih.gov/pubmed/22178883 PubMed 22207244 http://www.ncbi.nlm.nih.gov/pubmed/22207244 PubMed 2236053 http://www.ncbi.nlm.nih.gov/pubmed/2236053 PubMed 24019521 http://www.ncbi.nlm.nih.gov/pubmed/24019521 PubMed 2475911 http://www.ncbi.nlm.nih.gov/pubmed/2475911 PubMed 7504969 http://www.ncbi.nlm.nih.gov/pubmed/7504969 PubMed 7505694 http://www.ncbi.nlm.nih.gov/pubmed/7505694 PubMed 7513296 http://www.ncbi.nlm.nih.gov/pubmed/7513296 PubMed 7517264 http://www.ncbi.nlm.nih.gov/pubmed/7517264 PubMed 7518437 http://www.ncbi.nlm.nih.gov/pubmed/7518437 PubMed 7520022 http://www.ncbi.nlm.nih.gov/pubmed/7520022 PubMed 7522211 http://www.ncbi.nlm.nih.gov/pubmed/7522211 PubMed 7524909 http://www.ncbi.nlm.nih.gov/pubmed/7524909 PubMed 7524913 http://www.ncbi.nlm.nih.gov/pubmed/7524913 PubMed 7525450 http://www.ncbi.nlm.nih.gov/pubmed/7525450 PubMed 7529962 http://www.ncbi.nlm.nih.gov/pubmed/7529962 PubMed 7537150 http://www.ncbi.nlm.nih.gov/pubmed/7537150 PubMed 7539342 http://www.ncbi.nlm.nih.gov/pubmed/7539342 PubMed 7541273 http://www.ncbi.nlm.nih.gov/pubmed/7541273 PubMed 7541510 http://www.ncbi.nlm.nih.gov/pubmed/7541510 PubMed 7543567 http://www.ncbi.nlm.nih.gov/pubmed/7543567 PubMed 7544319 http://www.ncbi.nlm.nih.gov/pubmed/7544319 PubMed 7581407 http://www.ncbi.nlm.nih.gov/pubmed/7581407 PubMed 7680525 http://www.ncbi.nlm.nih.gov/pubmed/7680525 PubMed 7683628 http://www.ncbi.nlm.nih.gov/pubmed/7683628 PubMed 7683954 http://www.ncbi.nlm.nih.gov/pubmed/7683954 PubMed 8081395 http://www.ncbi.nlm.nih.gov/pubmed/8081395 PubMed 8522333 http://www.ncbi.nlm.nih.gov/pubmed/8522333 PubMed 8723693 http://www.ncbi.nlm.nih.gov/pubmed/8723693 PubMed 8723695 http://www.ncbi.nlm.nih.gov/pubmed/8723695 PubMed 8800923 http://www.ncbi.nlm.nih.gov/pubmed/8800923 PubMed 8829633 http://www.ncbi.nlm.nih.gov/pubmed/8829633 PubMed 8956039 http://www.ncbi.nlm.nih.gov/pubmed/8956039 PubMed 9067761 http://www.ncbi.nlm.nih.gov/pubmed/9067761 PubMed 9101301 http://www.ncbi.nlm.nih.gov/pubmed/9101301 PubMed 9222768 http://www.ncbi.nlm.nih.gov/pubmed/9222768 PubMed 9375855 http://www.ncbi.nlm.nih.gov/pubmed/9375855 PubMed 9385646 http://www.ncbi.nlm.nih.gov/pubmed/9385646 PubMed 9401006 http://www.ncbi.nlm.nih.gov/pubmed/9401006 PubMed 9443874 http://www.ncbi.nlm.nih.gov/pubmed/9443874 PubMed 9452048 http://www.ncbi.nlm.nih.gov/pubmed/9452048 PubMed 9452054 http://www.ncbi.nlm.nih.gov/pubmed/9452054 PubMed 9452073 http://www.ncbi.nlm.nih.gov/pubmed/9452073 PubMed 9482579 http://www.ncbi.nlm.nih.gov/pubmed/9482579 PubMed 9517543 http://www.ncbi.nlm.nih.gov/pubmed/9517543 PubMed 9521595 http://www.ncbi.nlm.nih.gov/pubmed/9521595 PubMed 9554753 http://www.ncbi.nlm.nih.gov/pubmed/9554753 PubMed 9736778 http://www.ncbi.nlm.nih.gov/pubmed/9736778 PubMed 9921909 http://www.ncbi.nlm.nih.gov/pubmed/9921909 Reactome R-HSA-382556 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-382556 Reactome R-HSA-5627083 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5627083 Reactome R-HSA-5678895 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5678895 Reactome R-HSA-5689880 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5689880 Reactome R-HSA-8856825 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-8856825 Reactome R-HSA-8856828 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-8856828 RefSeq NP_000483 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000483 SMART SM00382 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00382 SMR P13569 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P13569 STRING 9606.ENSP00000003084 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000003084&targetmode=cogs SUPFAM SSF52540 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52540 SUPFAM SSF90123 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF90123 TCDB 3.A.1.202 http://www.tcdb.org/search/result.php?tc=3.A.1.202 TIGRFAMs TIGR01271 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01271 UCSC uc003vjd http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003vjd&org=rat UniGene Hs.489786 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.489786 UniGene Hs.621460 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.621460 UniGene Hs.661104 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.661104 UniProtKB CFTR_HUMAN http://www.uniprot.org/uniprot/CFTR_HUMAN UniProtKB-AC P13569 http://www.uniprot.org/uniprot/P13569 charge swissprot:CFTR_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CFTR_HUMAN eggNOG COG1132 http://eggnogapi.embl.de/nog_data/html/tree/COG1132 eggNOG KOG0054 http://eggnogapi.embl.de/nog_data/html/tree/KOG0054 epestfind swissprot:CFTR_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CFTR_HUMAN garnier swissprot:CFTR_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CFTR_HUMAN helixturnhelix swissprot:CFTR_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CFTR_HUMAN hmoment swissprot:CFTR_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CFTR_HUMAN iep swissprot:CFTR_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CFTR_HUMAN inforesidue swissprot:CFTR_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CFTR_HUMAN neXtProt NX_P13569 http://www.nextprot.org/db/entry/NX_P13569 octanol swissprot:CFTR_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CFTR_HUMAN pepcoil swissprot:CFTR_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CFTR_HUMAN pepdigest swissprot:CFTR_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CFTR_HUMAN pepinfo swissprot:CFTR_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CFTR_HUMAN pepnet swissprot:CFTR_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CFTR_HUMAN pepstats swissprot:CFTR_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CFTR_HUMAN pepwheel swissprot:CFTR_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CFTR_HUMAN pepwindow swissprot:CFTR_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CFTR_HUMAN sigcleave swissprot:CFTR_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CFTR_HUMAN ## Database ID URL or Descriptions # AltName S45A3_HUMAN Prostate cancer-associated protein 6 # AltName S45A3_HUMAN Prostein # ChiTaRS SLC45A3 human # Ensembl ENST00000367145 ENSP00000356113; ENSG00000158715 # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function S45A3_HUMAN GO 0008506 sucrose proton symporter activity; ISS ParkinsonsUK-UCL. # GO_process GO:0010907 positive regulation of glucose metabolic process; ISS:ParkinsonsUK-UCL. # GO_process GO:0015770 sucrose transport; ISS:ParkinsonsUK-UCL. # GO_process GO:0045723 positive regulation of fatty acid biosynthetic process; ISS:ParkinsonsUK-UCL. # GO_process GO:0048713 regulation of oligodendrocyte differentiation; ISS:ParkinsonsUK-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # Genevisible Q96JT2 HS # HGNC HGNC:8642 SLC45A3 # INDUCTION Up-regulated by androgens. {ECO:0000269|PubMed 11245466}. # InterPro IPR011701 MFS # InterPro IPR020846 MFS_dom # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02001 Solute carrier family # KEGG_Disease H00024 [Cancer] Prostate cancer # KEGG_Pathway ko05202 Transcriptional misregulation in cancer # MIM 605097 gene # MISCELLANEOUS S45A3_HUMAN Marker for prostate cells. May be used, in case of prostate cancers, as a target antigen for prostate carcinomas- directed cytotoxic T-cell lymphocytes. # Organism S45A3_HUMAN Homo sapiens (Human) # Pfam PF07690 MFS_1 # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-70153 Glucose transport # RecName S45A3_HUMAN Solute carrier family 45 member 3 # RefSeq NP_149093 NM_033102.2 # RefSeq XP_005245613 XM_005245556.3 # RefSeq XP_005245614 XM_005245557.4 # RefSeq XP_016858127 XM_017002638.1 # SIMILARITY Belongs to the glycoside-pentoside-hexuronide (GPH) cation symporter transporter (TC 2.A.2) family. {ECO 0000305}. # SUBCELLULAR LOCATION S45A3_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # SUPFAM SSF103473 SSF103473 # TCDB 2.A.2.4:the glycoside-pentoside-hexuronide (gph) cation symporter family # TISSUE SPECIFICITY S45A3_HUMAN Prostate specific. Expressed in all prostatic glandular cells. Expressed both in normal and cancerous prostates. {ECO 0000269|PubMed 11245466, ECO 0000269|PubMed 14997204}. # UCSC uc001hda human # eggNOG ENOG410XPTR LUCA # eggNOG KOG0637 Eukaryota BLAST swissprot:S45A3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S45A3_HUMAN BioCyc ZFISH:ENSG00000158715-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000158715-MONOMER COXPRESdb 85414 http://coxpresdb.jp/data/gene/85414.shtml CleanEx HS_SLC45A3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC45A3 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1038/sj.bjc.6601642 http://dx.doi.org/10.1038/sj.bjc.6601642 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AK290364 http://www.ebi.ac.uk/ena/data/view/AK290364 EMBL AK313479 http://www.ebi.ac.uk/ena/data/view/AK313479 EMBL AY033593 http://www.ebi.ac.uk/ena/data/view/AY033593 EMBL BC050416 http://www.ebi.ac.uk/ena/data/view/BC050416 EMBL CH471067 http://www.ebi.ac.uk/ena/data/view/CH471067 Ensembl ENST00000367145 http://www.ensembl.org/id/ENST00000367145 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0008506 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008506 GO_process GO:0010907 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010907 GO_process GO:0015770 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015770 GO_process GO:0045723 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045723 GO_process GO:0048713 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048713 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GeneCards SLC45A3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC45A3 GeneID 85414 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=85414 GeneTree ENSGT00390000018882 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000018882 HGNC HGNC:8642 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:8642 HOGENOM HOG000013046 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000013046&db=HOGENOM6 HOVERGEN HBG053519 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG053519&db=HOVERGEN HPA HPA019073 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA019073 HPA HPA019075 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA019075 InParanoid Q96JT2 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q96JT2 InterPro IPR011701 http://www.ebi.ac.uk/interpro/entry/IPR011701 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 85414 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=85414 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Disease H00024 http://www.genome.jp/dbget-bin/www_bget?H00024 KEGG_Gene hsa:85414 http://www.genome.jp/dbget-bin/www_bget?hsa:85414 KEGG_Orthology KO:K15379 http://www.genome.jp/dbget-bin/www_bget?KO:K15379 KEGG_Pathway ko05202 http://www.genome.jp/kegg-bin/show_pathway?ko05202 MIM 605097 http://www.ncbi.nlm.nih.gov/omim/605097 OMA LCGASAC http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=LCGASAC OrthoDB EOG091G0DTJ http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0DTJ PSORT swissprot:S45A3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S45A3_HUMAN PSORT-B swissprot:S45A3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S45A3_HUMAN PSORT2 swissprot:S45A3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S45A3_HUMAN Pfam PF07690 http://pfam.xfam.org/family/PF07690 PharmGKB PA32981 http://www.pharmgkb.org/do/serve?objId=PA32981&objCls=Gene Phobius swissprot:S45A3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S45A3_HUMAN PhylomeDB Q96JT2 http://phylomedb.org/?seqid=Q96JT2 ProteinModelPortal Q96JT2 http://www.proteinmodelportal.org/query/uniprot/Q96JT2 PubMed 11245466 http://www.ncbi.nlm.nih.gov/pubmed/11245466 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 14997204 http://www.ncbi.nlm.nih.gov/pubmed/14997204 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 Reactome R-HSA-70153 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-70153 RefSeq NP_149093 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_149093 RefSeq XP_005245613 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005245613 RefSeq XP_005245614 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005245614 RefSeq XP_016858127 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016858127 STRING 9606.ENSP00000356113 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000356113&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.2.4 http://www.tcdb.org/search/result.php?tc=2.A.2.4 UCSC uc001hda http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001hda&org=rat UniGene Hs.278695 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.278695 UniProtKB S45A3_HUMAN http://www.uniprot.org/uniprot/S45A3_HUMAN UniProtKB-AC Q96JT2 http://www.uniprot.org/uniprot/Q96JT2 charge swissprot:S45A3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S45A3_HUMAN eggNOG ENOG410XPTR http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XPTR eggNOG KOG0637 http://eggnogapi.embl.de/nog_data/html/tree/KOG0637 epestfind swissprot:S45A3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S45A3_HUMAN garnier swissprot:S45A3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S45A3_HUMAN helixturnhelix swissprot:S45A3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S45A3_HUMAN hmoment swissprot:S45A3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S45A3_HUMAN iep swissprot:S45A3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S45A3_HUMAN inforesidue swissprot:S45A3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S45A3_HUMAN neXtProt NX_Q96JT2 http://www.nextprot.org/db/entry/NX_Q96JT2 octanol swissprot:S45A3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S45A3_HUMAN pepcoil swissprot:S45A3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S45A3_HUMAN pepdigest swissprot:S45A3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S45A3_HUMAN pepinfo swissprot:S45A3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S45A3_HUMAN pepnet swissprot:S45A3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S45A3_HUMAN pepstats swissprot:S45A3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S45A3_HUMAN pepwheel swissprot:S45A3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S45A3_HUMAN pepwindow swissprot:S45A3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S45A3_HUMAN sigcleave swissprot:S45A3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S45A3_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S39AA_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9ULF5-1; Sequence=Displayed; Name=2; IsoId=Q9ULF5-2; Sequence=VSP_055991; Note=No experimental confirmation available.; # AltName S39AA_HUMAN Solute carrier family 39 member 10 # AltName S39AA_HUMAN Zrt- and Irt-like protein 10 # BioGrid 121430 29 # CCDS CCDS33353 -. [Q9ULF5-1] # ChiTaRS SLC39A10 human # Ensembl ENST00000359634 ENSP00000352655; ENSG00000196950. [Q9ULF5-1] # Ensembl ENST00000409086 ENSP00000386766; ENSG00000196950. [Q9ULF5-1] # ExpressionAtlas Q9ULF5 baseline and differential # FUNCTION S39AA_HUMAN May act as a zinc-influx transporter. {ECO 0000269|PubMed 17359283}. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_function GO:0005385 zinc ion transmembrane transporter activity; IBA:GO_Central. # GO_process GO:0002903 negative regulation of B cell apoptotic process; IEA:Ensembl. # GO_process GO:0006882 cellular zinc ion homeostasis; IBA:GO_Central. # GO_process GO:0030890 positive regulation of B cell proliferation; IEA:Ensembl. # GO_process GO:0050861 positive regulation of B cell receptor signaling pathway; IBA:GO_Central. # GO_process GO:0071578 zinc II ion transmembrane import; IBA:GO_Central. # GO_process GO:1903615 positive regulation of protein tyrosine phosphatase activity; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Genevisible Q9ULF5 HS # HGNC HGNC:20861 SLC39A10 # IntAct Q9ULF5 21 # InterPro IPR003689 ZIP # KEGG_Brite ko02001 Solute carrier family # MIM 608733 gene # MISCELLANEOUS S39AA_HUMAN High levels of expression are correlated with invasiveness in several breast cancer lines. # Organism S39AA_HUMAN Homo sapiens (Human) # PIR T08684 T08684 # Pfam PF02535 Zip # Proteomes UP000005640 Chromosome 2 # Reactome R-HSA-442380 Zinc influx into cells by the SLC39 gene family # RecName S39AA_HUMAN Zinc transporter ZIP10 # RefSeq NP_001120729 NM_001127257.1. [Q9ULF5-1] # RefSeq NP_065075 NM_020342.2. [Q9ULF5-1] # RefSeq XP_005246746 XM_005246689.4. [Q9ULF5-1] # RefSeq XP_011509806 XM_011511504.2. [Q9ULF5-1] # RefSeq XP_011509807 XM_011511505.2. [Q9ULF5-1] # RefSeq XP_011509808 XM_011511506.2. [Q9ULF5-1] # SEQUENCE CAUTION Sequence=BAA86579.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAB43393.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the ZIP transporter (TC 2.A.5) family. {ECO 0000305}. # SUBCELLULAR LOCATION S39AA_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # TCDB 2.A.5.4 the zinc (zn(2+))-iron (fe(2+)) permease (zip) family # UCSC uc002utg human. [Q9ULF5-1] # eggNOG COG0428 LUCA # eggNOG KOG2693 Eukaryota BLAST swissprot:S39AA_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S39AA_HUMAN BioCyc ZFISH:G66-31289-MONOMER http://biocyc.org/getid?id=ZFISH:G66-31289-MONOMER COXPRESdb 57181 http://coxpresdb.jp/data/gene/57181.shtml CleanEx HS_SLC39A10 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC39A10 DOI 10.1016/j.molcel.2008.07.007 http://dx.doi.org/10.1016/j.molcel.2008.07.007 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1093/dnares/6.5.337 http://dx.doi.org/10.1093/dnares/6.5.337 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1349-7006.2007.00446.x http://dx.doi.org/10.1111/j.1349-7006.2007.00446.x DOI 10.1126/scisignal.2001570 http://dx.doi.org/10.1126/scisignal.2001570 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 EMBL AB033091 http://www.ebi.ac.uk/ena/data/view/AB033091 EMBL AC013274 http://www.ebi.ac.uk/ena/data/view/AC013274 EMBL AC064834 http://www.ebi.ac.uk/ena/data/view/AC064834 EMBL AK291241 http://www.ebi.ac.uk/ena/data/view/AK291241 EMBL AK294771 http://www.ebi.ac.uk/ena/data/view/AK294771 EMBL AL050294 http://www.ebi.ac.uk/ena/data/view/AL050294 EMBL BC073909 http://www.ebi.ac.uk/ena/data/view/BC073909 EMBL BC101516 http://www.ebi.ac.uk/ena/data/view/BC101516 EMBL BC112223 http://www.ebi.ac.uk/ena/data/view/BC112223 EMBL CH471063 http://www.ebi.ac.uk/ena/data/view/CH471063 EMBL CR749813 http://www.ebi.ac.uk/ena/data/view/CR749813 Ensembl ENST00000359634 http://www.ensembl.org/id/ENST00000359634 Ensembl ENST00000409086 http://www.ensembl.org/id/ENST00000409086 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0005385 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005385 GO_process GO:0002903 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002903 GO_process GO:0006882 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006882 GO_process GO:0030890 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030890 GO_process GO:0050861 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050861 GO_process GO:0071578 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071578 GO_process GO:1903615 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903615 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC39A10 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC39A10 GeneID 57181 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=57181 GeneTree ENSGT00760000119115 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119115 H-InvDB HIX0002690 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0002690 HGNC HGNC:20861 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:20861 HOGENOM HOG000013093 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000013093&db=HOGENOM6 HOVERGEN HBG055748 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG055748&db=HOVERGEN HPA HPA036512 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA036512 HPA HPA036513 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA036513 HPA HPA066087 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA066087 InParanoid Q9ULF5 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9ULF5 IntAct Q9ULF5 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9ULF5* InterPro IPR003689 http://www.ebi.ac.uk/interpro/entry/IPR003689 Jabion 57181 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=57181 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:57181 http://www.genome.jp/dbget-bin/www_bget?hsa:57181 KEGG_Orthology KO:K14716 http://www.genome.jp/dbget-bin/www_bget?KO:K14716 MIM 608733 http://www.ncbi.nlm.nih.gov/omim/608733 OMA DPGHGHQ http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=DPGHGHQ OrthoDB EOG091G02WM http://cegg.unige.ch/orthodb/results?searchtext=EOG091G02WM PSORT swissprot:S39AA_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S39AA_HUMAN PSORT-B swissprot:S39AA_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S39AA_HUMAN PSORT2 swissprot:S39AA_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S39AA_HUMAN Pfam PF02535 http://pfam.xfam.org/family/PF02535 PharmGKB PA134944068 http://www.pharmgkb.org/do/serve?objId=PA134944068&objCls=Gene Phobius swissprot:S39AA_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S39AA_HUMAN PhylomeDB Q9ULF5 http://phylomedb.org/?seqid=Q9ULF5 ProteinModelPortal Q9ULF5 http://www.proteinmodelportal.org/query/uniprot/Q9ULF5 PubMed 10574462 http://www.ncbi.nlm.nih.gov/pubmed/10574462 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 PubMed 17359283 http://www.ncbi.nlm.nih.gov/pubmed/17359283 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 PubMed 18691976 http://www.ncbi.nlm.nih.gov/pubmed/18691976 PubMed 21406692 http://www.ncbi.nlm.nih.gov/pubmed/21406692 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 Reactome R-HSA-442380 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-442380 RefSeq NP_001120729 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001120729 RefSeq NP_065075 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_065075 RefSeq XP_005246746 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005246746 RefSeq XP_011509806 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011509806 RefSeq XP_011509807 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011509807 RefSeq XP_011509808 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011509808 STRING 9606.ENSP00000352655 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000352655&targetmode=cogs TCDB 2.A.5.4 http://www.tcdb.org/search/result.php?tc=2.A.5.4 UCSC uc002utg http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002utg&org=rat UniGene Hs.650158 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.650158 UniProtKB S39AA_HUMAN http://www.uniprot.org/uniprot/S39AA_HUMAN UniProtKB-AC Q9ULF5 http://www.uniprot.org/uniprot/Q9ULF5 charge swissprot:S39AA_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S39AA_HUMAN eggNOG COG0428 http://eggnogapi.embl.de/nog_data/html/tree/COG0428 eggNOG KOG2693 http://eggnogapi.embl.de/nog_data/html/tree/KOG2693 epestfind swissprot:S39AA_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S39AA_HUMAN garnier swissprot:S39AA_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S39AA_HUMAN helixturnhelix swissprot:S39AA_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S39AA_HUMAN hmoment swissprot:S39AA_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S39AA_HUMAN iep swissprot:S39AA_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S39AA_HUMAN inforesidue swissprot:S39AA_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S39AA_HUMAN neXtProt NX_Q9ULF5 http://www.nextprot.org/db/entry/NX_Q9ULF5 octanol swissprot:S39AA_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S39AA_HUMAN pepcoil swissprot:S39AA_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S39AA_HUMAN pepdigest swissprot:S39AA_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S39AA_HUMAN pepinfo swissprot:S39AA_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S39AA_HUMAN pepnet swissprot:S39AA_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S39AA_HUMAN pepstats swissprot:S39AA_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S39AA_HUMAN pepwheel swissprot:S39AA_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S39AA_HUMAN pepwindow swissprot:S39AA_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S39AA_HUMAN sigcleave swissprot:S39AA_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S39AA_HUMAN ## Database ID URL or Descriptions # BioGrid 113582 2 # DISEASE BSND_HUMAN Bartter syndrome 4A, neonatal, with sensorineural deafness (BARTS4A) [MIM 602522] A form of Bartter syndrome, an autosomal recessive disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. BARTS4A is associated with sensorineural deafness. {ECO 0000269|PubMed 11687798, ECO 0000269|PubMed 12574213}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000371265 ENSP00000360312; ENSG00000162399 # ExpressionAtlas Q8WZ55 baseline and differential # FUNCTION BSND_HUMAN Functions as a beta-subunit for CLCNKA and CLCNKB chloride channels. In the kidney CLCNK/BSND heteromers mediate chloride reabsorption by facilitating its basolateral efflux. In the stria, CLCNK/BSND channels drive potassium secretion by recycling chloride for the basolateral SLC12A2 cotransporter. {ECO 0000269|PubMed 11734858, ECO 0000269|PubMed 12111250}. # GO_component GO:0005737 cytoplasm; IEA:UniProtKB-SubCell. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; ISS:UniProtKB. # GO_component GO:0016323 basolateral plasma membrane; ISS:UniProtKB. # GO_component GO:0043234 protein complex; ISS:UniProtKB. # GO_function GO:0005247 voltage-gated chloride channel activity; TAS:Reactome. # GO_function GO:0017081 chloride channel regulator activity; IEA:Ensembl. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0055085 transmembrane transport # Genevisible Q8WZ55 HS # HGNC HGNC:16512 BSND # IntAct Q8WZ55 2 # InterPro IPR029181 Barttin_dom # KEGG_Disease H00239 [Endocrine disease; Urinary system disease] Bartter syndrome # MIM 602522 phenotype # MIM 606412 gene # Organism BSND_HUMAN Homo sapiens (Human) # Orphanet 89938 Infantile Bartter syndrome with sensorineural deafness # Orphanet 90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB # PTM BSND_HUMAN Palmitoylation is necessary for activation of plasma membrane-inserted CLC-K/barttin channels. {ECO 0000269|PubMed 26013830}. # Pfam PF15462 Barttin # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-2672351 Stimuli-sensing channels # RecName BSND_HUMAN Barttin # RefSeq NP_476517 NM_057176.2 # SEQUENCE CAUTION Sequence=BC069510; Type=Frameshift; Positions=Several; Evidence={ECO 0000305}; # SUBCELLULAR LOCATION BSND_HUMAN Cell membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. Cytoplasm {ECO 0000250}. Note=A significant amount also observed intracellularly. Staining in membranes of the renal tubule and of potassium-secreting epithelia of the inner ear is basolateral (By similarity). {ECO 0000250}. # SUBUNIT Interacts with CLCNK channels. Forms heteromers with CLCNKA in the thin ascending limb of Henle and with CLCNKB in the thick ascending limb and more distal segments (By similarity). {ECO 0000250}. # TCDB 8.A.53.1 the clc-k accessory subunit, barttin, (barttin) family # TISSUE SPECIFICITY Expressed primarily in kidney. Expressed in specific nephron segments and in the stria vascularis of the inner ear. {ECO:0000269|PubMed 11687798}. # UCSC uc001cye human # eggNOG ENOG410J53T Eukaryota # eggNOG ENOG410ZGZV LUCA BLAST swissprot:BSND_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:BSND_HUMAN BioCyc ZFISH:ENSG00000162399-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000162399-MONOMER COXPRESdb 7809 http://coxpresdb.jp/data/gene/7809.shtml CleanEx HS_BSND http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_BSND DOI 10.1007/s00418-003-0535-2 http://dx.doi.org/10.1007/s00418-003-0535-2 DOI 10.1007/s00424-002-0819-8 http://dx.doi.org/10.1007/s00424-002-0819-8 DOI 10.1038/35107099 http://dx.doi.org/10.1038/35107099 DOI 10.1038/ng752 http://dx.doi.org/10.1038/ng752 DOI 10.1074/jbc.M114.631705 http://dx.doi.org/10.1074/jbc.M114.631705 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1210/jc.2002-021398 http://dx.doi.org/10.1210/jc.2002-021398 EMBL AY034632 http://www.ebi.ac.uk/ena/data/view/AY034632 EMBL BC069510 http://www.ebi.ac.uk/ena/data/view/BC069510 Ensembl ENST00000371265 http://www.ensembl.org/id/ENST00000371265 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016323 GO_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GO_function GO:0005247 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005247 GO_function GO:0017081 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0017081 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards BSND http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=BSND GeneID 7809 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=7809 GeneTree ENSGT00390000008549 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000008549 HGNC HGNC:16512 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:16512 HOGENOM HOG000049268 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000049268&db=HOGENOM6 HOVERGEN HBG050739 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050739&db=HOVERGEN HPA HPA053836 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA053836 InParanoid Q8WZ55 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8WZ55 IntAct Q8WZ55 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q8WZ55* InterPro IPR029181 http://www.ebi.ac.uk/interpro/entry/IPR029181 Jabion 7809 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=7809 KEGG_Disease H00239 http://www.genome.jp/dbget-bin/www_bget?H00239 KEGG_Gene hsa:7809 http://www.genome.jp/dbget-bin/www_bget?hsa:7809 MIM 602522 http://www.ncbi.nlm.nih.gov/omim/602522 MIM 606412 http://www.ncbi.nlm.nih.gov/omim/606412 MINT MINT-4536104 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-4536104 OMA DFSHIQM http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=DFSHIQM Orphanet 89938 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=89938 Orphanet 90636 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=90636 OrthoDB EOG091G0IJM http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0IJM PSORT swissprot:BSND_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:BSND_HUMAN PSORT-B swissprot:BSND_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:BSND_HUMAN PSORT2 swissprot:BSND_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:BSND_HUMAN Pfam PF15462 http://pfam.xfam.org/family/PF15462 PharmGKB PA134911659 http://www.pharmgkb.org/do/serve?objId=PA134911659&objCls=Gene Phobius swissprot:BSND_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:BSND_HUMAN PhylomeDB Q8WZ55 http://phylomedb.org/?seqid=Q8WZ55 ProteinModelPortal Q8WZ55 http://www.proteinmodelportal.org/query/uniprot/Q8WZ55 PubMed 11687798 http://www.ncbi.nlm.nih.gov/pubmed/11687798 PubMed 11734858 http://www.ncbi.nlm.nih.gov/pubmed/11734858 PubMed 12111250 http://www.ncbi.nlm.nih.gov/pubmed/12111250 PubMed 12574213 http://www.ncbi.nlm.nih.gov/pubmed/12574213 PubMed 12761627 http://www.ncbi.nlm.nih.gov/pubmed/12761627 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 26013830 http://www.ncbi.nlm.nih.gov/pubmed/26013830 Reactome R-HSA-2672351 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2672351 RefSeq NP_476517 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_476517 STRING 9606.ENSP00000360312 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000360312&targetmode=cogs TCDB 8.A.53.1 http://www.tcdb.org/search/result.php?tc=8.A.53.1 UCSC uc001cye http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001cye&org=rat UniGene Hs.151291 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.151291 UniProtKB BSND_HUMAN http://www.uniprot.org/uniprot/BSND_HUMAN UniProtKB-AC Q8WZ55 http://www.uniprot.org/uniprot/Q8WZ55 charge swissprot:BSND_HUMAN http://rest.g-language.org/emboss/charge/swissprot:BSND_HUMAN eggNOG ENOG410J53T http://eggnogapi.embl.de/nog_data/html/tree/ENOG410J53T eggNOG ENOG410ZGZV http://eggnogapi.embl.de/nog_data/html/tree/ENOG410ZGZV epestfind swissprot:BSND_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:BSND_HUMAN garnier swissprot:BSND_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:BSND_HUMAN helixturnhelix swissprot:BSND_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:BSND_HUMAN hmoment swissprot:BSND_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:BSND_HUMAN iep swissprot:BSND_HUMAN http://rest.g-language.org/emboss/iep/swissprot:BSND_HUMAN inforesidue swissprot:BSND_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:BSND_HUMAN neXtProt NX_Q8WZ55 http://www.nextprot.org/db/entry/NX_Q8WZ55 octanol swissprot:BSND_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:BSND_HUMAN pepcoil swissprot:BSND_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:BSND_HUMAN pepdigest swissprot:BSND_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:BSND_HUMAN pepinfo swissprot:BSND_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:BSND_HUMAN pepnet swissprot:BSND_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:BSND_HUMAN pepstats swissprot:BSND_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:BSND_HUMAN pepwheel swissprot:BSND_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:BSND_HUMAN pepwindow swissprot:BSND_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:BSND_HUMAN sigcleave swissprot:BSND_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:BSND_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS G6PT1_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O43826-1; Sequence=Displayed; Name=2; IsoId=O43826-2; Sequence=VSP_006171; # AltName G6PT1_HUMAN Glucose-5-phosphate transporter # AltName Glucose-6-phosphate translocase {ECO:0000303|PubMed 9428641} # AltName Solute carrier family 37 member 4 {ECO:0000312|HGNC HGNC:4061} # AltName Transformation-related gene 19 protein {ECO:0000312|EMBL AAS00495.1} # BioGrid 108817 2 # CDD cd06174 MFS # DISEASE G6PT1_HUMAN Glycogen storage disease 1B (GSD1B) [MIM 232220] A metabolic disorder characterized by impairment of terminal steps of glycogenolysis and gluconeogenesis. Patients manifest a wide range of clinical symptoms and biochemical abnormalities, including hypoglycemia, severe hepatomegaly due to excessive accumulation of glycogen, kidney enlargement, growth retardation, lactic acidemia, hyperlipidemia, and hyperuricemia. Glycogen storage disease type 1B patients also present a tendency towards infections associated with neutropenia, relapsing aphthous gingivostomatitis, and inflammatory bowel disease. {ECO 0000269|PubMed 10026167, ECO 0000269|PubMed 10482875, ECO 0000269|PubMed 10482962, ECO 0000269|PubMed 10518030, ECO 0000269|PubMed 10874322, ECO 0000269|PubMed 10923042, ECO 0000269|PubMed 10931421, ECO 0000269|PubMed 11071391, ECO 0000269|PubMed 11949931, ECO 0000269|PubMed 12409273, ECO 0000269|PubMed 15059622, ECO 0000269|PubMed 15669677, ECO 0000269|PubMed 15953877, ECO 0000269|PubMed 19579760, ECO 0000269|PubMed 21629566, ECO 0000269|PubMed 9428641, ECO 0000269|PubMed 9675154, ECO 0000269|PubMed 9758626, ECO 0000269|PubMed 9781688, ECO 0000269|PubMed 9856496, ECO 0000269|Ref.20}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE G6PT1_HUMAN Glycogen storage disease 1C (GSD1C) [MIM 232240] A metabolic disorder characterized by impairment of terminal steps of glycogenolysis and gluconeogenesis. Patients manifest a wide range of clinical symptoms and biochemical abnormalities, including hypoglycemia, severe hepatomegaly due to excessive accumulation of glycogen, kidney enlargement, growth retardation, lactic acidemia, hyperlipidemia, and hyperuricemia. {ECO 0000269|PubMed 10482962, ECO 0000269|PubMed 9758626}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE G6PT1_HUMAN Glycogen storage disease 1D (GSD1D) [MIM 232240] A metabolic disorder characterized by impairment of terminal steps of glycogenolysis and gluconeogenesis. Patients manifest a wide range of clinical symptoms and biochemical abnormalities, including hypoglycemia, severe hepatomegaly due to excessive accumulation of glycogen, kidney enlargement, growth retardation, lactic acidemia, hyperlipidemia, and hyperuricemia. {ECO 0000269|PubMed 9758626}. Note=The disease is caused by mutations affecting the gene represented in this entry. # ENZYME REGULATION Inhibited by vanadate and chlorogenic acid. {ECO:0000269|PubMed 21949678}. # Ensembl ENST00000631372 ENSP00000486168; ENSG00000281500. [O43826-1] # FUNCTION G6PT1_HUMAN Inorganic phosphate and glucose-6-phosphate antiporter of the endoplasmic reticulum. Transports cytoplasmic glucose-6- phosphate into the lumen of the endoplasmic reticulum and translocates inorganic phosphate into the opposite direction. Forms with glucose-6-phosphatase the complex responsible for glucose production through glycogenolysis and gluconeogenesis. Hence, it plays a central role in homeostatic regulation of blood glucose levels. {ECO 0000269|PubMed 10026167, ECO 0000269|PubMed 21949678}. # GO_component GO:0005783 endoplasmic reticulum; NAS:UniProtKB. # GO_component GO:0005789 endoplasmic reticulum membrane; TAS:Reactome. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; NAS:UniProtKB. # GO_component GO:0030176 integral component of endoplasmic reticulum membrane; IDA:UniProtKB. # GO_function G6PT1_HUMAN GO 0061513 glucose 6-phosphate inorganic phosphate antiporter activity; IDA UniProtKB. # GO_function GO:0005215 transporter activity; NAS:UniProtKB. # GO_function GO:0015152 glucose-6-phosphate transmembrane transporter activity; IDA:UniProtKB. # GO_process GO:0006006 glucose metabolic process; NAS:UniProtKB. # GO_process GO:0006810 transport; NAS:UniProtKB. # GO_process GO:0015758 glucose transport; TAS:Reactome. # GO_process GO:0015760 glucose-6-phosphate transport; IDA:UniProtKB. # GO_process GO:0035435 phosphate ion transmembrane transport; IDA:UniProtKB. # GO_process GO:0042593 glucose homeostasis; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0005975 carbohydrate metabolic process # GOslim_process GO:0006810 transport # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0044281 small molecule metabolic process # GOslim_process GO:0055085 transmembrane transport # HGNC HGNC:4061 SLC37A4 # IntAct O43826 2 # InterPro IPR000849 Sugar_P_transporter # InterPro IPR011701 MFS # InterPro IPR020846 MFS_dom # InterPro IPR021159 Sugar-P_transporter_CS # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02000 Transporters # KEGG_Brite ko02001 Solute carrier family # KEGG_Disease H00069 [Inherited metabolic disease] Glycogen synthase deficiency (GSD type 0) # KEGG_Pathway ko04973 Carbohydrate digestion and absorption # MIM 232220 phenotype # MIM 232240 phenotype # MIM 602671 gene # Organism G6PT1_HUMAN Homo sapiens (Human) # Orphanet 79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type b # PIRSF PIRSF002808 Hexose_phosphate_transp # PROSITE PS00942 GLPT # PROSITE PS50850 MFS # Pfam PF07690 MFS_1 # Proteomes UP000005640 Unplaced # Reactome R-HSA-70153 Glucose transport # RecName G6PT1_HUMAN Glucose-6-phosphate exchanger SLC37A4 {ECO 0000305|PubMed 10026167, ECO 0000305|PubMed 21949678} # RefSeq NP_001157749 NM_001164277.1. [O43826-1] # RefSeq NP_001157750 NM_001164278.1. [O43826-2] # RefSeq NP_001157751 NM_001164279.1 # RefSeq NP_001157752 NM_001164280.1. [O43826-1] # RefSeq NP_001458 NM_001467.5. [O43826-1] # SEQUENCE CAUTION Sequence=AAF16691.1; Type=Frameshift; Positions=128; Evidence={ECO 0000305}; # SIMILARITY Belongs to the major facilitator superfamily. Organophosphate:Pi antiporter (OPA) (TC 2.A.1.4) family. {ECO 0000305}. # SUBCELLULAR LOCATION G6PT1_HUMAN Endoplasmic reticulum membrane {ECO 0000269|PubMed 21949678}; Multi-pass membrane protein {ECO 0000255}. # SUPFAM SSF103473 SSF103473 # TCDB 2.A.1.4 the major facilitator superfamily (mfs) # TISSUE SPECIFICITY G6PT1_HUMAN Mostly expressed in liver and kidney. # WEB RESOURCE G6PT1_HUMAN Name=Mendelian genes solute carrier family 37 (glucose-6-phosphate transporter), member 4 (SLC37A4); Note=Leiden Open Variation Database (LOVD); URL="http //www.lovd.nl/SLC37A4"; BLAST swissprot:G6PT1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:G6PT1_HUMAN BioCyc ZFISH:ENSG00000137700-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000137700-MONOMER COXPRESdb 2542 http://coxpresdb.jp/data/gene/2542.shtml CleanEx HS_SLC37A4 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC37A4 DOI 10.1002/(SICI)1096-8628(19990917)86:3<253::AID-AJMG11>3.0.CO http://dx.doi.org/10.1002/(SICI)1096-8628(19990917)86:3<253::AID-AJMG11>3.0.CO DOI 10.1002/1098-1004(200007)16:1<94::AID-HUMU26>3.0.CO http://dx.doi.org/10.1002/1098-1004(200007)16:1<94::AID-HUMU26>3.0.CO DOI 10.1002/1098-1004(200008)16:2<177::AID-HUMU13>3.0.CO http://dx.doi.org/10.1002/1098-1004(200008)16:2<177::AID-HUMU13>3.0.CO DOI 10.1006/bbrc.1998.8985 http://dx.doi.org/10.1006/bbrc.1998.8985 DOI 10.1007/s004390000371 http://dx.doi.org/10.1007/s004390000371 DOI 10.1007/s004390050856 http://dx.doi.org/10.1007/s004390050856 DOI 10.1007/s004390050948 http://dx.doi.org/10.1007/s004390050948 DOI 10.1016/S0014-5793(97)01463-4 http://dx.doi.org/10.1016/S0014-5793(97)01463-4 DOI 10.1016/S0014-5793(98)01129-6 http://dx.doi.org/10.1016/S0014-5793(98)01129-6 DOI 10.1016/S0014-5793(99)01248-X http://dx.doi.org/10.1016/S0014-5793(99)01248-X DOI 10.1016/S0378-1119(98)00614-3 http://dx.doi.org/10.1016/S0378-1119(98)00614-3 DOI 10.1016/S1096-7192(02)00110-5 http://dx.doi.org/10.1016/S1096-7192(02)00110-5 DOI 10.1016/S1875-9572(09)60048-6 http://dx.doi.org/10.1016/S1875-9572(09)60048-6 DOI 10.1016/j.ymgme.2003.12.004 http://dx.doi.org/10.1016/j.ymgme.2003.12.004 DOI 10.1023/B:BOLI.0000042987.43395.c6 http://dx.doi.org/10.1023/B:BOLI.0000042987.43395.c6 DOI 10.1038/sj.ejhg.5200366 http://dx.doi.org/10.1038/sj.ejhg.5200366 DOI 10.1067/mpd.2000.107472 http://dx.doi.org/10.1067/mpd.2000.107472 DOI 10.1074/jbc.274.9.5532 http://dx.doi.org/10.1074/jbc.274.9.5532 DOI 10.1086/302068 http://dx.doi.org/10.1086/302068 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1371/journal.pone.0023157 http://dx.doi.org/10.1371/journal.pone.0023157 DOI 10.2174/1566524024605798 http://dx.doi.org/10.2174/1566524024605798 DOI 10.3346/jkms.2005.20.3.499 http://dx.doi.org/10.3346/jkms.2005.20.3.499 DOI 10.4172/1747-0862.1000046 http://dx.doi.org/10.4172/1747-0862.1000046 EMBL AF078163 http://www.ebi.ac.uk/ena/data/view/AF078163 EMBL AF097831 http://www.ebi.ac.uk/ena/data/view/AF097831 EMBL AF110819 http://www.ebi.ac.uk/ena/data/view/AF110819 EMBL AF110820 http://www.ebi.ac.uk/ena/data/view/AF110820 EMBL AF111852 http://www.ebi.ac.uk/ena/data/view/AF111852 EMBL AF116862 http://www.ebi.ac.uk/ena/data/view/AF116862 EMBL AF116863 http://www.ebi.ac.uk/ena/data/view/AF116863 EMBL AF116864 http://www.ebi.ac.uk/ena/data/view/AF116864 EMBL AY423732 http://www.ebi.ac.uk/ena/data/view/AY423732 EMBL BC002400 http://www.ebi.ac.uk/ena/data/view/BC002400 EMBL BC003589 http://www.ebi.ac.uk/ena/data/view/BC003589 EMBL BC014663 http://www.ebi.ac.uk/ena/data/view/BC014663 EMBL BC015650 http://www.ebi.ac.uk/ena/data/view/BC015650 EMBL BC064563 http://www.ebi.ac.uk/ena/data/view/BC064563 EMBL CH471065 http://www.ebi.ac.uk/ena/data/view/CH471065 EMBL Y15409 http://www.ebi.ac.uk/ena/data/view/Y15409 EMBL Y17864 http://www.ebi.ac.uk/ena/data/view/Y17864 Ensembl ENST00000631372 http://www.ensembl.org/id/ENST00000631372 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GO_component GO:0005789 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005789 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0030176 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030176 GO_function GO:0005215 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005215 GO_function GO:0015152 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015152 GO_function GO:0061513 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061513 GO_process GO:0006006 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006006 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0015758 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015758 GO_process GO:0015760 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015760 GO_process GO:0035435 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035435 GO_process GO:0042593 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042593 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0005975 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005975 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC37A4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC37A4 GeneID 2542 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=2542 HGNC HGNC:4061 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:4061 HOGENOM HOG000274730 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000274730&db=HOGENOM6 HOVERGEN HBG051682 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG051682&db=HOVERGEN HPA HPA038939 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA038939 HPA HPA038940 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA038940 InParanoid O43826 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O43826 IntAct O43826 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O43826* InterPro IPR000849 http://www.ebi.ac.uk/interpro/entry/IPR000849 InterPro IPR011701 http://www.ebi.ac.uk/interpro/entry/IPR011701 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 InterPro IPR021159 http://www.ebi.ac.uk/interpro/entry/IPR021159 Jabion 2542 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=2542 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Disease H00069 http://www.genome.jp/dbget-bin/www_bget?H00069 KEGG_Gene hsa:2542 http://www.genome.jp/dbget-bin/www_bget?hsa:2542 KEGG_Orthology KO:K08171 http://www.genome.jp/dbget-bin/www_bget?KO:K08171 KEGG_Pathway ko04973 http://www.genome.jp/kegg-bin/show_pathway?ko04973 MIM 232220 http://www.ncbi.nlm.nih.gov/omim/232220 MIM 232240 http://www.ncbi.nlm.nih.gov/omim/232240 MIM 602671 http://www.ncbi.nlm.nih.gov/omim/602671 OMA DISHAGW http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=DISHAGW Orphanet 79259 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=79259 OrthoDB EOG091G06B9 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G06B9 PROSITE PS00942 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00942 PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PSORT swissprot:G6PT1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:G6PT1_HUMAN PSORT-B swissprot:G6PT1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:G6PT1_HUMAN PSORT2 swissprot:G6PT1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:G6PT1_HUMAN Pfam PF07690 http://pfam.xfam.org/family/PF07690 PharmGKB PA28472 http://www.pharmgkb.org/do/serve?objId=PA28472&objCls=Gene Phobius swissprot:G6PT1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:G6PT1_HUMAN PhylomeDB O43826 http://phylomedb.org/?seqid=O43826 ProteinModelPortal O43826 http://www.proteinmodelportal.org/query/uniprot/O43826 PubMed 10023055 http://www.ncbi.nlm.nih.gov/pubmed/10023055 PubMed 10026167 http://www.ncbi.nlm.nih.gov/pubmed/10026167 PubMed 10323254 http://www.ncbi.nlm.nih.gov/pubmed/10323254 PubMed 10482875 http://www.ncbi.nlm.nih.gov/pubmed/10482875 PubMed 10482962 http://www.ncbi.nlm.nih.gov/pubmed/10482962 PubMed 10518030 http://www.ncbi.nlm.nih.gov/pubmed/10518030 PubMed 10874322 http://www.ncbi.nlm.nih.gov/pubmed/10874322 PubMed 10923042 http://www.ncbi.nlm.nih.gov/pubmed/10923042 PubMed 10931421 http://www.ncbi.nlm.nih.gov/pubmed/10931421 PubMed 11071391 http://www.ncbi.nlm.nih.gov/pubmed/11071391 PubMed 11949931 http://www.ncbi.nlm.nih.gov/pubmed/11949931 PubMed 12409273 http://www.ncbi.nlm.nih.gov/pubmed/12409273 PubMed 15059622 http://www.ncbi.nlm.nih.gov/pubmed/15059622 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15669677 http://www.ncbi.nlm.nih.gov/pubmed/15669677 PubMed 15953877 http://www.ncbi.nlm.nih.gov/pubmed/15953877 PubMed 19579760 http://www.ncbi.nlm.nih.gov/pubmed/19579760 PubMed 21629566 http://www.ncbi.nlm.nih.gov/pubmed/21629566 PubMed 21949678 http://www.ncbi.nlm.nih.gov/pubmed/21949678 PubMed 9428641 http://www.ncbi.nlm.nih.gov/pubmed/9428641 PubMed 9675154 http://www.ncbi.nlm.nih.gov/pubmed/9675154 PubMed 9758626 http://www.ncbi.nlm.nih.gov/pubmed/9758626 PubMed 9781688 http://www.ncbi.nlm.nih.gov/pubmed/9781688 PubMed 9856496 http://www.ncbi.nlm.nih.gov/pubmed/9856496 Reactome R-HSA-70153 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-70153 RefSeq NP_001157749 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001157749 RefSeq NP_001157750 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001157750 RefSeq NP_001157751 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001157751 RefSeq NP_001157752 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001157752 RefSeq NP_001458 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001458 SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.1.4 http://www.tcdb.org/search/result.php?tc=2.A.1.4 UniGene Hs.719203 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.719203 UniProtKB G6PT1_HUMAN http://www.uniprot.org/uniprot/G6PT1_HUMAN UniProtKB-AC O43826 http://www.uniprot.org/uniprot/O43826 charge swissprot:G6PT1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:G6PT1_HUMAN epestfind swissprot:G6PT1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:G6PT1_HUMAN garnier swissprot:G6PT1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:G6PT1_HUMAN helixturnhelix swissprot:G6PT1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:G6PT1_HUMAN hmoment swissprot:G6PT1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:G6PT1_HUMAN iep swissprot:G6PT1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:G6PT1_HUMAN inforesidue swissprot:G6PT1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:G6PT1_HUMAN neXtProt NX_O43826 http://www.nextprot.org/db/entry/NX_O43826 octanol swissprot:G6PT1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:G6PT1_HUMAN pepcoil swissprot:G6PT1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:G6PT1_HUMAN pepdigest swissprot:G6PT1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:G6PT1_HUMAN pepinfo swissprot:G6PT1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:G6PT1_HUMAN pepnet swissprot:G6PT1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:G6PT1_HUMAN pepstats swissprot:G6PT1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:G6PT1_HUMAN pepwheel swissprot:G6PT1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:G6PT1_HUMAN pepwindow swissprot:G6PT1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:G6PT1_HUMAN sigcleave swissprot:G6PT1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:G6PT1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS P2RX2_HUMAN Event=Alternative splicing; Named isoforms=7; Name=A; IsoId=Q9UBL9-1; Sequence=Displayed; Name=B; IsoId=Q9UBL9-2; Sequence=VSP_004499; Name=C; IsoId=Q9UBL9-3; Sequence=VSP_004497; Name=D; IsoId=Q9UBL9-4; Sequence=VSP_004498; Name=H; IsoId=Q9UBL9-5; Sequence=VSP_004495; Name=I; IsoId=Q9UBL9-6; Sequence=VSP_004496; Name=K; IsoId=Q9UBL9-7; Sequence=VSP_004497, VSP_014135, VSP_004499; Note=No experimental confirmation available.; # AltName P2RX2_HUMAN ATP receptor # AltName P2RX2_HUMAN Purinergic receptor # BioGrid 116607 21 # CCDS CCDS31930 -. [Q9UBL9-4] # CCDS CCDS31931 -. [Q9UBL9-1] # CCDS CCDS31932 -. [Q9UBL9-2] # CCDS CCDS31933 -. [Q9UBL9-3] # CCDS CCDS31934 -. [Q9UBL9-6] # CCDS CCDS31935 -. [Q9UBL9-5] # CCDS CCDS61286 -. [Q9UBL9-7] # DISEASE P2RX2_HUMAN Deafness, autosomal dominant, 41 (DFNA41) [MIM 608224] A form of non-syndromic deafness characterized by onset of progressive sensorineural hearing loss usually in the second decade. The hearing loss is severe and ultimately affects all frequencies. Exposure to noise exacerbates the hearing loss, particularly at high frequencies. {ECO 0000269|PubMed 23345450, ECO 0000269|PubMed 24211385}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000343948 ENSP00000343339; ENSG00000187848. [Q9UBL9-4] # Ensembl ENST00000348800 ENSP00000345095; ENSG00000187848. [Q9UBL9-2] # Ensembl ENST00000350048 ENSP00000343904; ENSG00000187848. [Q9UBL9-3] # Ensembl ENST00000351222 ENSP00000344502; ENSG00000187848. [Q9UBL9-5] # Ensembl ENST00000352418 ENSP00000341419; ENSG00000187848. [Q9UBL9-6] # Ensembl ENST00000389110 ENSP00000373762; ENSG00000187848. [Q9UBL9-1] # Ensembl ENST00000449132 ENSP00000405531; ENSG00000187848. [Q9UBL9-7] # ExpressionAtlas Q9UBL9 baseline and differential # FUNCTION P2RX2_HUMAN Ion channel gated by extracellular ATP involved in a variety of cellular responses, such as excitatory postsynaptic responses in sensory neurons, neuromuscular junctions (NMJ) formation, hearing, perception of taste and peristalsis. In the inner ear, regulates sound transduction and auditory neurotransmission, outer hair cell electromotility, inner ear gap junctions, and K(+) recycling. Mediates synaptic transmission between neurons and from neurons to smooth muscle. {ECO 0000269|PubMed 23345450}. # GO_component GO:0005639 integral component of nuclear inner membrane; IBA:GO_Central. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IDA:UniProtKB. # GO_component GO:0016324 apical plasma membrane; IDA:UniProtKB. # GO_component GO:0043235 receptor complex; IDA:MGI. # GO_function GO:0001614 purinergic nucleotide receptor activity; NAS:BHF-UCL. # GO_function GO:0004931 extracellular ATP-gated cation channel activity; IDA:UniProtKB. # GO_function GO:0005524 ATP binding; NAS:BHF-UCL. # GO_function GO:0015276 ligand-gated ion channel activity; TAS:ProtInc. # GO_function GO:0042802 identical protein binding; IPI:BHF-UCL. # GO_process GO:0001666 response to hypoxia; IEA:Ensembl. # GO_process GO:0003029 detection of hypoxic conditions in blood by carotid body chemoreceptor signaling; IEA:Ensembl. # GO_process GO:0007274 neuromuscular synaptic transmission; IEA:Ensembl. # GO_process GO:0007528 neuromuscular junction development; IEA:Ensembl. # GO_process GO:0007596 blood coagulation; TAS:Reactome. # GO_process GO:0007605 sensory perception of sound; IMP:UniProtKB. # GO_process GO:0009743 response to carbohydrate; IEA:Ensembl. # GO_process GO:0010524 positive regulation of calcium ion transport into cytosol; NAS:BHF-UCL. # GO_process GO:0014832 urinary bladder smooth muscle contraction; IEA:Ensembl. # GO_process GO:0030432 peristalsis; IEA:Ensembl. # GO_process GO:0033198 response to ATP; IEA:Ensembl. # GO_process GO:0048266 behavioral response to pain; IEA:Ensembl. # GO_process GO:0048741 skeletal muscle fiber development; IEA:Ensembl. # GO_process GO:0050850 positive regulation of calcium-mediated signaling; NAS:BHF-UCL. # GO_process GO:0050909 sensory perception of taste; IEA:Ensembl. # GO_process GO:0051260 protein homooligomerization; IPI:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0050877 neurological system process # Gene3D 2.60.490.10 -; 1. # Genevisible Q9UBL9 HS # HGNC HGNC:15459 P2RX2 # InterPro IPR001429 P2X_purnocptor # InterPro IPR003045 P2X2_purnocptor # InterPro IPR027309 P2X_extracellular_dom # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04020 Calcium signaling pathway # KEGG_Pathway ko04080 Neuroactive ligand-receptor interaction # MIM 600844 gene # MIM 608224 phenotype # Organism P2RX2_HUMAN Homo sapiens (Human) # Orphanet 90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA # PANTHER PTHR10125 PTHR10125 # PANTHER PTHR10125:SF4 PTHR10125:SF4 # PIRSF PIRSF005713 P2X_purinoceptor # PRINTS PR01307 P2XRECEPTOR # PRINTS PR01309 P2X2RECEPTOR # PROSITE PS01212 P2X_RECEPTOR # Pfam PF00864 P2X_receptor # Proteomes UP000005640 Chromosome 12 # Reactome R-HSA-139853 Elevation of cytosolic Ca2+ levels # Reactome R-HSA-418346 Platelet homeostasis # RecName P2RX2_HUMAN P2X purinoceptor 2 # RefSeq NP_001269093 NM_001282164.1. [Q9UBL9-7] # RefSeq NP_001269094 NM_001282165.1 # RefSeq NP_036358 NM_012226.4. [Q9UBL9-6] # RefSeq NP_057402 NM_016318.3. [Q9UBL9-3] # RefSeq NP_733782 NM_170682.3. [Q9UBL9-1] # RefSeq NP_733783 NM_170683.3. [Q9UBL9-4] # RefSeq NP_777361 NM_174872.2. [Q9UBL9-5] # RefSeq NP_777362 NM_174873.2. [Q9UBL9-2] # SIMILARITY Belongs to the P2X receptor family. {ECO 0000305}. # SUBCELLULAR LOCATION P2RX2_HUMAN Cell membrane {ECO 0000269|PubMed 23345450}; Multi-pass membrane protein {ECO 0000269|PubMed 23345450}. Note=Localizes to the apical membranes of hair cells in the organ of Corti. # SUBUNIT P2RX2_HUMAN Homotrimer and heterotrimer; functional P2XRs are organized as homomeric and heteromeric trimers. # TIGRFAMs TIGR00863 P2X # UCSC uc001uki human. [Q9UBL9-1] # WEB RESOURCE P2RX2_HUMAN Name=Wikipedia; Note=P2X receptor entry; URL="https //en.wikipedia.org/wiki/P2X_receptor"; BLAST swissprot:P2RX2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:P2RX2_HUMAN BioCyc ZFISH:ENSG00000177026-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000177026-MONOMER COXPRESdb 22953 http://coxpresdb.jp/data/gene/22953.shtml DOI 10.1016/j.gene.2013.10.052 http://dx.doi.org/10.1016/j.gene.2013.10.052 DOI 10.1038/nature04569 http://dx.doi.org/10.1038/nature04569 DOI 10.1073/pnas.1222285110 http://dx.doi.org/10.1073/pnas.1222285110 EMBL AC131212 http://www.ebi.ac.uk/ena/data/view/AC131212 EMBL AF109387 http://www.ebi.ac.uk/ena/data/view/AF109387 EMBL AF109388 http://www.ebi.ac.uk/ena/data/view/AF109388 EMBL AF190822 http://www.ebi.ac.uk/ena/data/view/AF190822 EMBL AF190823 http://www.ebi.ac.uk/ena/data/view/AF190823 EMBL AF190824 http://www.ebi.ac.uk/ena/data/view/AF190824 EMBL AF190825 http://www.ebi.ac.uk/ena/data/view/AF190825 EMBL AF190826 http://www.ebi.ac.uk/ena/data/view/AF190826 EMBL AF260426 http://www.ebi.ac.uk/ena/data/view/AF260426 EMBL AF260427 http://www.ebi.ac.uk/ena/data/view/AF260427 EMBL AF260428 http://www.ebi.ac.uk/ena/data/view/AF260428 EMBL AF260429 http://www.ebi.ac.uk/ena/data/view/AF260429 EMBL AY346374 http://www.ebi.ac.uk/ena/data/view/AY346374 Ensembl ENST00000343948 http://www.ensembl.org/id/ENST00000343948 Ensembl ENST00000348800 http://www.ensembl.org/id/ENST00000348800 Ensembl ENST00000350048 http://www.ensembl.org/id/ENST00000350048 Ensembl ENST00000351222 http://www.ensembl.org/id/ENST00000351222 Ensembl ENST00000352418 http://www.ensembl.org/id/ENST00000352418 Ensembl ENST00000389110 http://www.ensembl.org/id/ENST00000389110 Ensembl ENST00000449132 http://www.ensembl.org/id/ENST00000449132 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005639 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005639 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:0043235 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043235 GO_function GO:0001614 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001614 GO_function GO:0004931 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004931 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0015276 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015276 GO_function GO:0042802 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042802 GO_process GO:0001666 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001666 GO_process GO:0003029 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003029 GO_process GO:0007274 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007274 GO_process GO:0007528 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007528 GO_process GO:0007596 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007596 GO_process GO:0007605 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007605 GO_process GO:0009743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009743 GO_process GO:0010524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010524 GO_process GO:0014832 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014832 GO_process GO:0030432 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030432 GO_process GO:0033198 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033198 GO_process GO:0048266 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048266 GO_process GO:0048741 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048741 GO_process GO:0050850 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050850 GO_process GO:0050909 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050909 GO_process GO:0051260 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051260 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 Gene3D 2.60.490.10 http://www.cathdb.info/version/latest/superfamily/2.60.490.10 GeneCards P2RX2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=P2RX2 GeneID 22953 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=22953 GeneTree ENSGT00390000016028 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000016028 HGNC HGNC:15459 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:15459 HOVERGEN HBG053086 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG053086&db=HOVERGEN HPA HPA014025 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA014025 InParanoid Q9UBL9 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9UBL9 InterPro IPR001429 http://www.ebi.ac.uk/interpro/entry/IPR001429 InterPro IPR003045 http://www.ebi.ac.uk/interpro/entry/IPR003045 InterPro IPR027309 http://www.ebi.ac.uk/interpro/entry/IPR027309 Jabion 22953 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=22953 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:22953 http://www.genome.jp/dbget-bin/www_bget?hsa:22953 KEGG_Orthology KO:K05216 http://www.genome.jp/dbget-bin/www_bget?KO:K05216 KEGG_Pathway ko04020 http://www.genome.jp/kegg-bin/show_pathway?ko04020 KEGG_Pathway ko04080 http://www.genome.jp/kegg-bin/show_pathway?ko04080 MIM 600844 http://www.ncbi.nlm.nih.gov/omim/600844 MIM 608224 http://www.ncbi.nlm.nih.gov/omim/608224 OMA LYFVWYV http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=LYFVWYV Orphanet 90635 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=90635 OrthoDB EOG091G0A2U http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0A2U PANTHER PTHR10125 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10125 PANTHER PTHR10125:SF4 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10125:SF4 PRINTS PR01307 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01307 PRINTS PR01309 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01309 PROSITE PS01212 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS01212 PSORT swissprot:P2RX2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:P2RX2_HUMAN PSORT-B swissprot:P2RX2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:P2RX2_HUMAN PSORT2 swissprot:P2RX2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:P2RX2_HUMAN Pfam PF00864 http://pfam.xfam.org/family/PF00864 PharmGKB PA32862 http://www.pharmgkb.org/do/serve?objId=PA32862&objCls=Gene Phobius swissprot:P2RX2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:P2RX2_HUMAN PhylomeDB Q9UBL9 http://phylomedb.org/?seqid=Q9UBL9 ProteinModelPortal Q9UBL9 http://www.proteinmodelportal.org/query/uniprot/Q9UBL9 PubMed 10570044 http://www.ncbi.nlm.nih.gov/pubmed/10570044 PubMed 16541075 http://www.ncbi.nlm.nih.gov/pubmed/16541075 PubMed 23345450 http://www.ncbi.nlm.nih.gov/pubmed/23345450 PubMed 24211385 http://www.ncbi.nlm.nih.gov/pubmed/24211385 Reactome R-HSA-139853 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-139853 Reactome R-HSA-418346 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-418346 RefSeq NP_001269093 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001269093 RefSeq NP_001269094 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001269094 RefSeq NP_036358 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_036358 RefSeq NP_057402 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_057402 RefSeq NP_733782 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_733782 RefSeq NP_733783 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_733783 RefSeq NP_777361 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_777361 RefSeq NP_777362 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_777362 SMR Q9UBL9 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9UBL9 TIGRFAMs TIGR00863 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00863 UCSC uc001uki http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001uki&org=rat UniGene Hs.258580 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.258580 UniProtKB P2RX2_HUMAN http://www.uniprot.org/uniprot/P2RX2_HUMAN UniProtKB-AC Q9UBL9 http://www.uniprot.org/uniprot/Q9UBL9 charge swissprot:P2RX2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:P2RX2_HUMAN epestfind swissprot:P2RX2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:P2RX2_HUMAN garnier swissprot:P2RX2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:P2RX2_HUMAN helixturnhelix swissprot:P2RX2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:P2RX2_HUMAN hmoment swissprot:P2RX2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:P2RX2_HUMAN iep swissprot:P2RX2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:P2RX2_HUMAN inforesidue swissprot:P2RX2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:P2RX2_HUMAN neXtProt NX_Q9UBL9 http://www.nextprot.org/db/entry/NX_Q9UBL9 octanol swissprot:P2RX2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:P2RX2_HUMAN pepcoil swissprot:P2RX2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:P2RX2_HUMAN pepdigest swissprot:P2RX2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:P2RX2_HUMAN pepinfo swissprot:P2RX2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:P2RX2_HUMAN pepnet swissprot:P2RX2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:P2RX2_HUMAN pepstats swissprot:P2RX2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:P2RX2_HUMAN pepwheel swissprot:P2RX2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:P2RX2_HUMAN pepwindow swissprot:P2RX2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:P2RX2_HUMAN sigcleave swissprot:P2RX2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:P2RX2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS AP1B1_HUMAN Event=Alternative splicing; Named isoforms=4; Comment=Additional isoforms seem to exist.; Name=A; IsoId=Q10567-1; Sequence=Displayed; Name=B; IsoId=Q10567-2; Sequence=VSP_000163; Name=C; IsoId=Q10567-3; Sequence=VSP_000163, VSP_038753; Name=4; IsoId=Q10567-4; Sequence=VSP_000163, VSP_044928, VSP_038753; Note=No experimental confirmation available.; # AltName AP1B1_HUMAN Adaptor protein complex AP-1 subunit beta-1 # AltName AP1B1_HUMAN Adaptor-related protein complex 1 subunit beta-1 # AltName AP1B1_HUMAN Beta-1-adaptin # AltName AP1B1_HUMAN Beta-adaptin 1 # AltName AP1B1_HUMAN Clathrin assembly protein complex 1 beta large chain # AltName AP1B1_HUMAN Golgi adaptor HA1/AP1 adaptin beta subunit # BioGrid 106671 74 # CCDS CCDS13855 -. [Q10567-1] # CCDS CCDS13856 -. [Q10567-3] # CCDS CCDS54515 -. [Q10567-4] # ChiTaRS AP1B1 human # Ensembl ENST00000317368 ENSP00000319361; ENSG00000100280 # Ensembl ENST00000357586 ENSP00000350199; ENSG00000100280 # Ensembl ENST00000402502 ENSP00000386071; ENSG00000100280 # Ensembl ENST00000405198 ENSP00000384194; ENSG00000100280 # Ensembl ENST00000415447 ENSP00000387612; ENSG00000100280 # Ensembl ENST00000432560 ENSP00000400065; ENSG00000100280 # ExpressionAtlas Q10567 baseline and differential # FUNCTION AP1B1_HUMAN Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. # GO_component GO:0000139 Golgi membrane; TAS:Reactome. # GO_component GO:0005765 lysosomal membrane; TAS:Reactome. # GO_component GO:0005829 cytosol; TAS:Reactome. # GO_component GO:0030131 clathrin adaptor complex; IEA:InterPro. # GO_component GO:0030659 cytoplasmic vesicle membrane; TAS:Reactome. # GO_component GO:0030669 clathrin-coated endocytic vesicle membrane; TAS:Reactome. # GO_component GO:0032588 trans-Golgi network membrane; TAS:Reactome. # GO_function GO:0005215 transporter activity; TAS:ProtInc. # GO_function GO:0008565 protein transporter activity; IEA:InterPro. # GO_function GO:0019901 protein kinase binding; ISS:ParkinsonsUK-UCL. # GO_process GO:0006886 intracellular protein transport; IEA:InterPro. # GO_process GO:0007368 determination of left/right symmetry; IEA:Ensembl. # GO_process GO:0007507 heart development; IEA:Ensembl. # GO_process GO:0016192 vesicle-mediated transport; IEA:InterPro. # GO_process GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II; TAS:Reactome. # GO_process GO:0050690 regulation of defense response to virus by virus; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005829 cytosol # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0008565 protein transporter activity # GOslim_function GO:0019899 enzyme binding # GOslim_process GO:0002376 immune system process # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0016192 vesicle-mediated transport # GOslim_process GO:0048856 anatomical structure development # Gene3D 1.25.10.10 -; 1. # Gene3D 2.60.40.1150 -; 1. # Gene3D 3.30.310.10 -; 1. # Genevisible Q10567 HS # HGNC HGNC:554 AP1B1 # INTERACTION AP1B1_HUMAN P35585 Ap1m1 (xeno); NbExp=5; IntAct=EBI-1171303, EBI-1040251; # IntAct Q10567 56 # InterPro IPR000225 Armadillo # InterPro IPR002553 Clathrin/coatomer_adapt-like_N # InterPro IPR008152 Clathrin_a/b/g-adaptin_app_Ig # InterPro IPR009028 Coatomer/calthrin_app_sub_C # InterPro IPR011989 ARM-like # InterPro IPR012295 Beta2_adaptin/TBP_C_dom # InterPro IPR013037 Clathrin_b-adaptin_app_Ig-like # InterPro IPR013041 Coatomer/clathrin_app_Ig-like # InterPro IPR015151 B-adaptin_app_sub_C # InterPro IPR016024 ARM-type_fold # InterPro IPR016342 AP_complex_bsu_1_2_4 # InterPro IPR026739 AP_beta # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Pathway ko04142 Lysosome # MIM 600157 gene # Organism AP1B1_HUMAN Homo sapiens (Human) # PANTHER PTHR11134 PTHR11134 # PDB 4HMY X-ray; 7.00 A; B=1-584 # PDB 4P6Z X-ray; 3.00 A; B=1-584 # PIR I54360 I54360 # PIRSF PIRSF002291 AP_complex_beta # Pfam PF01602 Adaptin_N # Pfam PF02883 Alpha_adaptinC2 # Pfam PF09066 B2-adapt-app_C # Proteomes UP000005640 Chromosome 22 # Reactome R-HSA-164940 Nef mediated downregulation of MHC class I complex cell surface expression # Reactome R-HSA-2132295 MHC class II antigen presentation # Reactome R-HSA-432720 Lysosome Vesicle Biogenesis # Reactome R-HSA-432722 Golgi Associated Vesicle Biogenesis # RecName AP1B1_HUMAN AP-1 complex subunit beta-1 # RefSeq NP_001118 NM_001127.3 # RefSeq NP_001159491 NM_001166019.1 # RefSeq NP_663782 NM_145730.2 # SIMILARITY Belongs to the adaptor complexes large subunit family. {ECO 0000305}. # SMART SM00185 ARM; 2 # SMART SM00809 Alpha_adaptinC2 # SMART SM01020 B2-adapt-app_C # SUBCELLULAR LOCATION AP1B1_HUMAN Golgi apparatus. Cytoplasmic vesicle, clathrin-coated vesicle membrane; Peripheral membrane protein; Cytoplasmic side. Note=Component of the coat surrounding the cytoplasmic face of coated vesicles located at the Golgi complex. # SUBUNIT AP1B1_HUMAN Adaptor protein complex 1 (AP-1) is a heterotetramer composed of two large adaptins (gamma-type subunit AP1G1 and beta- type subunit AP1B1), a medium adaptin (mu-type subunit AP1M1 or AP1M2) and a small adaptin (sigma-type subunit AP1S1 or AP1S2 or AP1S3). # SUPFAM SSF48371 SSF48371 # SUPFAM SSF49348 SSF49348 # SUPFAM SSF55711 SSF55711 # TISSUE SPECIFICITY AP1B1_HUMAN Widely expressed. # UCSC uc003afi human. [Q10567-1] # eggNOG COG5096 LUCA # eggNOG KOG1061 Eukaryota BLAST swissprot:AP1B1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:AP1B1_HUMAN BioCyc ZFISH:ENSG00000100280-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000100280-MONOMER COXPRESdb 162 http://coxpresdb.jp/data/gene/162.shtml CleanEx HS_AP1B1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_AP1B1 DIP DIP-24207N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-24207N DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1006/geno.1996.0431 http://dx.doi.org/10.1006/geno.1996.0431 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1038/990031 http://dx.doi.org/10.1038/990031 DOI 10.1093/hmg/3.8.1393 http://dx.doi.org/10.1093/hmg/3.8.1393 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1175371 http://dx.doi.org/10.1126/science.1175371 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DOI 10.1186/gb-2004-5-10-r84 http://dx.doi.org/10.1186/gb-2004-5-10-r84 EMBL AC000041 http://www.ebi.ac.uk/ena/data/view/AC000041 EMBL AC002059 http://www.ebi.ac.uk/ena/data/view/AC002059 EMBL AF379038 http://www.ebi.ac.uk/ena/data/view/AF379038 EMBL AF379039 http://www.ebi.ac.uk/ena/data/view/AF379039 EMBL BC046242 http://www.ebi.ac.uk/ena/data/view/BC046242 EMBL CT841508 http://www.ebi.ac.uk/ena/data/view/CT841508 EMBL L13939 http://www.ebi.ac.uk/ena/data/view/L13939 EMBL L48038 http://www.ebi.ac.uk/ena/data/view/L48038 EMBL U36250 http://www.ebi.ac.uk/ena/data/view/U36250 EMBL U36251 http://www.ebi.ac.uk/ena/data/view/U36251 EMBL U36252 http://www.ebi.ac.uk/ena/data/view/U36252 EMBL U36253 http://www.ebi.ac.uk/ena/data/view/U36253 EMBL U36254 http://www.ebi.ac.uk/ena/data/view/U36254 EMBL U36255 http://www.ebi.ac.uk/ena/data/view/U36255 EMBL U36256 http://www.ebi.ac.uk/ena/data/view/U36256 EMBL U36257 http://www.ebi.ac.uk/ena/data/view/U36257 EMBL U36258 http://www.ebi.ac.uk/ena/data/view/U36258 EMBL U36259 http://www.ebi.ac.uk/ena/data/view/U36259 EMBL U36260 http://www.ebi.ac.uk/ena/data/view/U36260 EMBL U36261 http://www.ebi.ac.uk/ena/data/view/U36261 EMBL U36262 http://www.ebi.ac.uk/ena/data/view/U36262 EMBL U36263 http://www.ebi.ac.uk/ena/data/view/U36263 EMBL U36264 http://www.ebi.ac.uk/ena/data/view/U36264 EMBL U36265 http://www.ebi.ac.uk/ena/data/view/U36265 EMBL U36266 http://www.ebi.ac.uk/ena/data/view/U36266 EMBL U36267 http://www.ebi.ac.uk/ena/data/view/U36267 EMBL U36268 http://www.ebi.ac.uk/ena/data/view/U36268 Ensembl ENST00000317368 http://www.ensembl.org/id/ENST00000317368 Ensembl ENST00000357586 http://www.ensembl.org/id/ENST00000357586 Ensembl ENST00000402502 http://www.ensembl.org/id/ENST00000402502 Ensembl ENST00000405198 http://www.ensembl.org/id/ENST00000405198 Ensembl ENST00000415447 http://www.ensembl.org/id/ENST00000415447 Ensembl ENST00000432560 http://www.ensembl.org/id/ENST00000432560 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000139 GO_component GO:0005765 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005765 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0030131 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030131 GO_component GO:0030659 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030659 GO_component GO:0030669 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030669 GO_component GO:0032588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032588 GO_function GO:0005215 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005215 GO_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GO_function GO:0019901 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019901 GO_process GO:0006886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006886 GO_process GO:0007368 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007368 GO_process GO:0007507 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007507 GO_process GO:0016192 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016192 GO_process GO:0019886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019886 GO_process GO:0050690 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050690 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_function GO:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GOslim_process GO:0002376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002376 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0016192 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016192 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 Gene3D 1.25.10.10 http://www.cathdb.info/version/latest/superfamily/1.25.10.10 Gene3D 2.60.40.1150 http://www.cathdb.info/version/latest/superfamily/2.60.40.1150 Gene3D 3.30.310.10 http://www.cathdb.info/version/latest/superfamily/3.30.310.10 GeneCards AP1B1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=AP1B1 GeneID 162 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=162 HGNC HGNC:554 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:554 HOGENOM HOG000163270 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000163270&db=HOGENOM6 HOVERGEN HBG050515 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050515&db=HOVERGEN HPA HPA065226 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA065226 InParanoid Q10567 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q10567 IntAct Q10567 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q10567* InterPro IPR000225 http://www.ebi.ac.uk/interpro/entry/IPR000225 InterPro IPR002553 http://www.ebi.ac.uk/interpro/entry/IPR002553 InterPro IPR008152 http://www.ebi.ac.uk/interpro/entry/IPR008152 InterPro IPR009028 http://www.ebi.ac.uk/interpro/entry/IPR009028 InterPro IPR011989 http://www.ebi.ac.uk/interpro/entry/IPR011989 InterPro IPR012295 http://www.ebi.ac.uk/interpro/entry/IPR012295 InterPro IPR013037 http://www.ebi.ac.uk/interpro/entry/IPR013037 InterPro IPR013041 http://www.ebi.ac.uk/interpro/entry/IPR013041 InterPro IPR015151 http://www.ebi.ac.uk/interpro/entry/IPR015151 InterPro IPR016024 http://www.ebi.ac.uk/interpro/entry/IPR016024 InterPro IPR016342 http://www.ebi.ac.uk/interpro/entry/IPR016342 InterPro IPR026739 http://www.ebi.ac.uk/interpro/entry/IPR026739 Jabion 162 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=162 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Gene hsa:162 http://www.genome.jp/dbget-bin/www_bget?hsa:162 KEGG_Orthology KO:K12392 http://www.genome.jp/dbget-bin/www_bget?KO:K12392 KEGG_Pathway ko04142 http://www.genome.jp/kegg-bin/show_pathway?ko04142 MIM 600157 http://www.ncbi.nlm.nih.gov/omim/600157 MINT MINT-1540570 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1540570 OrthoDB EOG091G019U http://cegg.unige.ch/orthodb/results?searchtext=EOG091G019U PANTHER PTHR11134 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11134 PDB 4HMY http://www.ebi.ac.uk/pdbe-srv/view/entry/4HMY PDB 4P6Z http://www.ebi.ac.uk/pdbe-srv/view/entry/4P6Z PDBsum 4HMY http://www.ebi.ac.uk/pdbsum/4HMY PDBsum 4P6Z http://www.ebi.ac.uk/pdbsum/4P6Z PSORT swissprot:AP1B1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:AP1B1_HUMAN PSORT-B swissprot:AP1B1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:AP1B1_HUMAN PSORT2 swissprot:AP1B1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:AP1B1_HUMAN Pfam PF01602 http://pfam.xfam.org/family/PF01602 Pfam PF02883 http://pfam.xfam.org/family/PF02883 Pfam PF09066 http://pfam.xfam.org/family/PF09066 PharmGKB PA24844 http://www.pharmgkb.org/do/serve?objId=PA24844&objCls=Gene Phobius swissprot:AP1B1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:AP1B1_HUMAN PhylomeDB Q10567 http://phylomedb.org/?seqid=Q10567 ProteinModelPortal Q10567 http://www.proteinmodelportal.org/query/uniprot/Q10567 PubMed 10591208 http://www.ncbi.nlm.nih.gov/pubmed/10591208 PubMed 15461802 http://www.ncbi.nlm.nih.gov/pubmed/15461802 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 19608861 http://www.ncbi.nlm.nih.gov/pubmed/19608861 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 7987321 http://www.ncbi.nlm.nih.gov/pubmed/7987321 PubMed 8812422 http://www.ncbi.nlm.nih.gov/pubmed/8812422 Reactome R-HSA-164940 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-164940 Reactome R-HSA-2132295 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2132295 Reactome R-HSA-432720 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-432720 Reactome R-HSA-432722 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-432722 RefSeq NP_001118 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001118 RefSeq NP_001159491 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001159491 RefSeq NP_663782 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_663782 SMART SM00185 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00185 SMART SM00809 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00809 SMART SM01020 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM01020 SMR Q10567 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q10567 STRING 9606.ENSP00000350199 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000350199&targetmode=cogs SUPFAM SSF48371 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48371 SUPFAM SSF49348 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF49348 SUPFAM SSF55711 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF55711 UCSC uc003afi http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003afi&org=rat UniGene Hs.368794 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.368794 UniProtKB AP1B1_HUMAN http://www.uniprot.org/uniprot/AP1B1_HUMAN UniProtKB-AC Q10567 http://www.uniprot.org/uniprot/Q10567 charge swissprot:AP1B1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:AP1B1_HUMAN eggNOG COG5096 http://eggnogapi.embl.de/nog_data/html/tree/COG5096 eggNOG KOG1061 http://eggnogapi.embl.de/nog_data/html/tree/KOG1061 epestfind swissprot:AP1B1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:AP1B1_HUMAN garnier swissprot:AP1B1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:AP1B1_HUMAN helixturnhelix swissprot:AP1B1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:AP1B1_HUMAN hmoment swissprot:AP1B1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:AP1B1_HUMAN iep swissprot:AP1B1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:AP1B1_HUMAN inforesidue swissprot:AP1B1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:AP1B1_HUMAN neXtProt NX_Q10567 http://www.nextprot.org/db/entry/NX_Q10567 octanol swissprot:AP1B1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:AP1B1_HUMAN pepcoil swissprot:AP1B1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:AP1B1_HUMAN pepdigest swissprot:AP1B1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:AP1B1_HUMAN pepinfo swissprot:AP1B1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:AP1B1_HUMAN pepnet swissprot:AP1B1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:AP1B1_HUMAN pepstats swissprot:AP1B1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:AP1B1_HUMAN pepwheel swissprot:AP1B1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:AP1B1_HUMAN pepwindow swissprot:AP1B1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:AP1B1_HUMAN sigcleave swissprot:AP1B1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:AP1B1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS TPSN_HUMAN Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=O15533-1; Sequence=Displayed; Name=2; IsoId=O15533-2; Sequence=VSP_002577; Note=Due to a partial intron retention.; Name=3; IsoId=O15533-3; Sequence=VSP_017055; Note=No experimental confirmation available.; Name=4; Synonyms=tpsnDeltaEx3; IsoId=O15533-4; Sequence=VSP_044455; # AltName TPSN_HUMAN NGS-17 # AltName TPSN_HUMAN TAP-associated protein # AltName TPSN_HUMAN TAP-binding protein # BioGrid 112755 14 # CCDS CCDS34426 -. [O15533-1] # CCDS CCDS34427 -. [O15533-4] # CCDS CCDS34428 -. [O15533-3] # ChiTaRS TAPBP human # DISEASE TPSN_HUMAN Bare lymphocyte syndrome 1 (BLS1) [MIM 604571] A HLA class I deficiency. Contrary to bare lymphocyte syndromes type 2 and type 3, which are characterized by early-onset severe combined immunodeficiency, class I antigen deficiencies are not accompanied by particular pathologic manifestations during the first years of life. Systemic infections have not been described. Chronic bacterial infections, often beginning in the first decade of life, are restricted to the respiratory tract. {ECO 0000269|PubMed 12149238}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DOMAIN TPSN_HUMAN The N-terminus is required for efficient association with MHC class I molecule and for a stable interaction between MHC I and calreticulin. Binding to TAP is mediated by the C-terminal region. {ECO 0000269|PubMed 10382748}. # Ensembl ENST00000374572 ENSP00000363700; ENSG00000112493. [O15533-1] # Ensembl ENST00000383066 ENSP00000372543; ENSG00000206208 # Ensembl ENST00000383197 ENSP00000372684; ENSG00000206281. [O15533-3] # Ensembl ENST00000383198 ENSP00000372685; ENSG00000206281. [O15533-1] # Ensembl ENST00000395114 ENSP00000378546; ENSG00000112493. [O15533-3] # Ensembl ENST00000417059 ENSP00000402087; ENSG00000236490. [O15533-1] # Ensembl ENST00000434618 ENSP00000395701; ENSG00000231925 # Ensembl ENST00000456807 ENSP00000407195; ENSG00000236490. [O15533-3] # ExpressionAtlas O15533 baseline and differential # FUNCTION TPSN_HUMAN Involved in the association of MHC class I with transporter associated with antigen processing (TAP) and in the assembly of MHC class I with peptide (peptide loading). {ECO 0000269|PubMed 10636848}. # GO_component GO:0000139 Golgi membrane; IDA:UniProtKB. # GO_component GO:0005783 endoplasmic reticulum; TAS:ProtInc. # GO_component GO:0005789 endoplasmic reticulum membrane; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; TAS:ProtInc. # GO_component GO:0042824 MHC class I peptide loading complex; NAS:UniProtKB. # GO_component GO:0071556 integral component of lumenal side of endoplasmic reticulum membrane; TAS:Reactome. # GO_function GO:0015433 peptide antigen-transporting ATPase activity; TAS:ProtInc. # GO_function GO:0042288 MHC class I protein binding; TAS:UniProtKB. # GO_function GO:0042605 peptide antigen binding; TAS:UniProtKB. # GO_function GO:0046978 TAP1 binding; IPI:UniProtKB. # GO_function GO:0046979 TAP2 binding; IPI:UniProtKB. # GO_function GO:0051082 unfolded protein binding; TAS:UniProtKB. # GO_process GO:0002474 antigen processing and presentation of peptide antigen via MHC class I; TAS:Reactome. # GO_process GO:0006461 protein complex assembly; TAS:ProtInc. # GO_process GO:0006890 retrograde vesicle-mediated transport, Golgi to ER; NAS:UniProtKB. # GO_process GO:0006955 immune response; TAS:ProtInc. # GO_process GO:0010468 regulation of gene expression; IMP:AgBase. # GO_process GO:0019885 antigen processing and presentation of endogenous peptide antigen via MHC class I; IEA:InterPro. # GO_process GO:0050823 peptide antigen stabilization; ISS:UniProtKB. # GO_process GO:0061635 regulation of protein complex stability; IDA:AgBase. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0051082 unfolded protein binding # GOslim_process GO:0002376 immune system process # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0008150 biological_process # GOslim_process GO:0016192 vesicle-mediated transport # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # Gene3D 2.60.40.10 -; 1. # Genevisible O15533 HS # HGNC HGNC:11566 TAPBP # INTERACTION TPSN_HUMAN P0C739 BNLF2a (xeno); NbExp=6; IntAct=EBI-874801, EBI-9346744; Q77CE4 gN (xeno); NbExp=2; IntAct=EBI-874801, EBI-11303846; Q03518 TAP1; NbExp=14; IntAct=EBI-874801, EBI-747259; Q03519 TAP2; NbExp=8; IntAct=EBI-874801, EBI-780781; # IntAct O15533 12 # InterPro IPR003597 Ig_C1-set # InterPro IPR007110 Ig-like_dom # InterPro IPR008056 Tapasin # InterPro IPR013783 Ig-like_fold # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Disease H00984 [Inherited metabolic disease; Immune system disease] Bare lymphocyte syndrome (BLS) type1 # KEGG_Pathway ko04612 Antigen processing and presentation # MIM 601962 gene # MIM 604571 phenotype # Organism TPSN_HUMAN Homo sapiens (Human) # Orphanet 34592 Immunodeficiency by defective expression of HLA class 1 # PDB 3F8U X-ray; 2.60 A; B/D=1-401 # POLYMORPHISM The 2 alleles of TAPBP; TAPBP*01 (Tapasin*01) (shown here) and TAPBP*02 (Tapasin*02); are in linkage disequilibria with the HLA-DRB1 locus in a Japanese population. {ECO:0000269|PubMed 9802609}. # PRINTS PR01669 TAPASIN # PROSITE PS50835 IG_LIKE # Pfam PF07654 C1-set # Proteomes UP000005640 Chromosome 6 # Reactome R-HSA-1236974 ER-Phagosome pathway # Reactome R-HSA-983170:Antigen Presentation Folding, assembly and peptide loading of class I MHC # RecName TPSN_HUMAN Tapasin # RefSeq NP_003181 NM_003190.4 # RefSeq NP_757345 NM_172208.2 # RefSeq NP_757346 NM_172209.2 # SEQUENCE CAUTION Sequence=AAD32924.2; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO 0000305}; # SIMILARITY Contains 1 Ig-like C1-type (immunoglobulin-like) domain. {ECO 0000305}. # SUBCELLULAR LOCATION TPSN_HUMAN Endoplasmic reticulum membrane {ECO 0000305}; Single-pass type I membrane protein {ECO 0000305}. # SUBUNIT Heterodimer with PDIA3; disulfide-linked. Interacts with TAP1 and is thus a subunit of the TAP complex, also known as the peptide loading complex (PLC). Interaction with TAP1 is TAP2- independent and is required for efficient peptide-TAP interaction. Obligatory mediator for the interaction between newly assembled MHC class I molecules, calreticulin, PDIA3 and TAP. Up to 4 MHC class I/tapasin complexes bind to 1 TAP. {ECO:0000269|PubMed 19119025}. # SUPFAM SSF48726 SSF48726 # TISSUE SPECIFICITY TPSN_HUMAN Neutrophils, mostly in fully differentiated cells. # TopDownProteomics O15533-3 -. [O15533-3] # UCSC uc003odx human. [O15533-1] # WEB RESOURCE TPSN_HUMAN Name=TAPBPbase; Note=TAPBP mutation db; URL="http //structure.bmc.lu.se/idbase/TAPBPbase/"; # eggNOG ENOG410II43 Eukaryota # eggNOG ENOG4111QPK LUCA BLAST swissprot:TPSN_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:TPSN_HUMAN BioCyc ZFISH:ENSG00000112493-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000112493-MONOMER COXPRESdb 6892 http://coxpresdb.jp/data/gene/6892.shtml DOI 10.1002/(SICI)1521-4141(199802)28:02<459::AID-IMMU459>3.0.CO http://dx.doi.org/10.1002/(SICI)1521-4141(199802)28:02<459::AID-IMMU459>3.0.CO DOI 10.1002/(SICI)1521-4141(199906)29:06<1858::AID-IMMU1858>3.0.CO http://dx.doi.org/10.1002/(SICI)1521-4141(199906)29:06<1858::AID-IMMU1858>3.0.CO DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1006/jmbi.1998.1637 http://dx.doi.org/10.1006/jmbi.1998.1637 DOI 10.1016/j.humimm.2010.05.019 http://dx.doi.org/10.1016/j.humimm.2010.05.019 DOI 10.1016/j.immuni.2008.10.018 http://dx.doi.org/10.1016/j.immuni.2008.10.018 DOI 10.1021/pr8008012 http://dx.doi.org/10.1021/pr8008012 DOI 10.1038/nature02055 http://dx.doi.org/10.1038/nature02055 DOI 10.1038/sj.gene.6364043 http://dx.doi.org/10.1038/sj.gene.6364043 DOI 10.1073/pnas.94.16.8708 http://dx.doi.org/10.1073/pnas.94.16.8708 DOI 10.1074/jbc.275.3.1581 http://dx.doi.org/10.1074/jbc.275.3.1581 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1399-0039.1998.tb03044.x http://dx.doi.org/10.1111/j.1399-0039.1998.tb03044.x DOI 10.1126/science.277.5330.1306 http://dx.doi.org/10.1126/science.277.5330.1306 DOI 10.1182/blood-2001-12-0252 http://dx.doi.org/10.1182/blood-2001-12-0252 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AB010639 http://www.ebi.ac.uk/ena/data/view/AB010639 EMBL AB012622 http://www.ebi.ac.uk/ena/data/view/AB012622 EMBL AB012920 http://www.ebi.ac.uk/ena/data/view/AB012920 EMBL AF009510 http://www.ebi.ac.uk/ena/data/view/AF009510 EMBL AF029750 http://www.ebi.ac.uk/ena/data/view/AF029750 EMBL AF067286 http://www.ebi.ac.uk/ena/data/view/AF067286 EMBL AF314222 http://www.ebi.ac.uk/ena/data/view/AF314222 EMBL AL662820 http://www.ebi.ac.uk/ena/data/view/AL662820 EMBL AL662827 http://www.ebi.ac.uk/ena/data/view/AL662827 EMBL BC080574 http://www.ebi.ac.uk/ena/data/view/BC080574 EMBL BX248088 http://www.ebi.ac.uk/ena/data/view/BX248088 EMBL BX248088 http://www.ebi.ac.uk/ena/data/view/BX248088 EMBL CH471081 http://www.ebi.ac.uk/ena/data/view/CH471081 EMBL CR759786 http://www.ebi.ac.uk/ena/data/view/CR759786 EMBL CR759786 http://www.ebi.ac.uk/ena/data/view/CR759786 EMBL CR759817 http://www.ebi.ac.uk/ena/data/view/CR759817 EMBL CR759817 http://www.ebi.ac.uk/ena/data/view/CR759817 EMBL EU693375 http://www.ebi.ac.uk/ena/data/view/EU693375 EMBL Y13582 http://www.ebi.ac.uk/ena/data/view/Y13582 EMBL Z97183 http://www.ebi.ac.uk/ena/data/view/Z97183 EMBL Z97184 http://www.ebi.ac.uk/ena/data/view/Z97184 Ensembl ENST00000374572 http://www.ensembl.org/id/ENST00000374572 Ensembl ENST00000383066 http://www.ensembl.org/id/ENST00000383066 Ensembl ENST00000383197 http://www.ensembl.org/id/ENST00000383197 Ensembl ENST00000383198 http://www.ensembl.org/id/ENST00000383198 Ensembl ENST00000395114 http://www.ensembl.org/id/ENST00000395114 Ensembl ENST00000417059 http://www.ensembl.org/id/ENST00000417059 Ensembl ENST00000434618 http://www.ensembl.org/id/ENST00000434618 Ensembl ENST00000456807 http://www.ensembl.org/id/ENST00000456807 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000139 GO_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GO_component GO:0005789 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005789 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0042824 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042824 GO_component GO:0071556 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071556 GO_function GO:0015433 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015433 GO_function GO:0042288 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042288 GO_function GO:0042605 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042605 GO_function GO:0046978 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046978 GO_function GO:0046979 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046979 GO_function GO:0051082 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051082 GO_process GO:0002474 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002474 GO_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GO_process GO:0006890 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006890 GO_process GO:0006955 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006955 GO_process GO:0010468 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010468 GO_process GO:0019885 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019885 GO_process GO:0050823 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050823 GO_process GO:0061635 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061635 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0051082 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051082 GOslim_process GO:0002376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002376 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0016192 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016192 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 Gene3D 2.60.40.10 http://www.cathdb.info/version/latest/superfamily/2.60.40.10 GeneCards TAPBP http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=TAPBP GeneID 6892 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6892 H-InvDB HIX0058157 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0058157 H-InvDB HIX0166135 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0166135 H-InvDB HIX0166410 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0166410 HGNC HGNC:11566 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11566 HOVERGEN HBG005156 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG005156&db=HOVERGEN HPA HPA007066 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA007066 InParanoid O15533 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O15533 IntAct O15533 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O15533* InterPro IPR003597 http://www.ebi.ac.uk/interpro/entry/IPR003597 InterPro IPR007110 http://www.ebi.ac.uk/interpro/entry/IPR007110 InterPro IPR008056 http://www.ebi.ac.uk/interpro/entry/IPR008056 InterPro IPR013783 http://www.ebi.ac.uk/interpro/entry/IPR013783 Jabion 6892 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6892 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Disease H00984 http://www.genome.jp/dbget-bin/www_bget?H00984 KEGG_Gene hsa:6892 http://www.genome.jp/dbget-bin/www_bget?hsa:6892 KEGG_Orthology KO:K08058 http://www.genome.jp/dbget-bin/www_bget?KO:K08058 KEGG_Pathway ko04612 http://www.genome.jp/kegg-bin/show_pathway?ko04612 MIM 601962 http://www.ncbi.nlm.nih.gov/omim/601962 MIM 604571 http://www.ncbi.nlm.nih.gov/omim/604571 MINT MINT-4053688 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-4053688 OMA YLATVHL http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=YLATVHL Orphanet 34592 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=34592 OrthoDB EOG091G0ATU http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0ATU PDB 3F8U http://www.ebi.ac.uk/pdbe-srv/view/entry/3F8U PDBsum 3F8U http://www.ebi.ac.uk/pdbsum/3F8U PRINTS PR01669 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01669 PROSITE PS50835 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50835 PSORT swissprot:TPSN_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:TPSN_HUMAN PSORT-B swissprot:TPSN_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:TPSN_HUMAN PSORT2 swissprot:TPSN_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:TPSN_HUMAN Pfam PF07654 http://pfam.xfam.org/family/PF07654 PharmGKB PA36331 http://www.pharmgkb.org/do/serve?objId=PA36331&objCls=Gene Phobius swissprot:TPSN_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:TPSN_HUMAN PhylomeDB O15533 http://phylomedb.org/?seqid=O15533 ProteinModelPortal O15533 http://www.proteinmodelportal.org/query/uniprot/O15533 PubMed 10088603 http://www.ncbi.nlm.nih.gov/pubmed/10088603 PubMed 10382748 http://www.ncbi.nlm.nih.gov/pubmed/10382748 PubMed 10636848 http://www.ncbi.nlm.nih.gov/pubmed/10636848 PubMed 12149238 http://www.ncbi.nlm.nih.gov/pubmed/12149238 PubMed 14574404 http://www.ncbi.nlm.nih.gov/pubmed/14574404 PubMed 14668790 http://www.ncbi.nlm.nih.gov/pubmed/14668790 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 19119025 http://www.ncbi.nlm.nih.gov/pubmed/19119025 PubMed 19159218 http://www.ncbi.nlm.nih.gov/pubmed/19159218 PubMed 20600451 http://www.ncbi.nlm.nih.gov/pubmed/20600451 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 9238042 http://www.ncbi.nlm.nih.gov/pubmed/9238042 PubMed 9271576 http://www.ncbi.nlm.nih.gov/pubmed/9271576 PubMed 9521053 http://www.ncbi.nlm.nih.gov/pubmed/9521053 PubMed 9545376 http://www.ncbi.nlm.nih.gov/pubmed/9545376 PubMed 9802609 http://www.ncbi.nlm.nih.gov/pubmed/9802609 Reactome R-HSA-1236974 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1236974 Reactome R-HSA-983170 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-983170 RefSeq NP_003181 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_003181 RefSeq NP_757345 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_757345 RefSeq NP_757346 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_757346 SMR O15533 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=O15533 STRING 9606.ENSP00000404833 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000404833&targetmode=cogs SUPFAM SSF48726 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48726 UCSC uc003odx http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003odx&org=rat UniGene Hs.370937 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.370937 UniProtKB TPSN_HUMAN http://www.uniprot.org/uniprot/TPSN_HUMAN UniProtKB-AC O15533 http://www.uniprot.org/uniprot/O15533 charge swissprot:TPSN_HUMAN http://rest.g-language.org/emboss/charge/swissprot:TPSN_HUMAN eggNOG ENOG410II43 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410II43 eggNOG ENOG4111QPK http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111QPK epestfind swissprot:TPSN_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:TPSN_HUMAN garnier swissprot:TPSN_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:TPSN_HUMAN helixturnhelix swissprot:TPSN_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:TPSN_HUMAN hmoment swissprot:TPSN_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:TPSN_HUMAN iep swissprot:TPSN_HUMAN http://rest.g-language.org/emboss/iep/swissprot:TPSN_HUMAN inforesidue swissprot:TPSN_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:TPSN_HUMAN neXtProt NX_O15533 http://www.nextprot.org/db/entry/NX_O15533 octanol swissprot:TPSN_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:TPSN_HUMAN pepcoil swissprot:TPSN_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:TPSN_HUMAN pepdigest swissprot:TPSN_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:TPSN_HUMAN pepinfo swissprot:TPSN_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:TPSN_HUMAN pepnet swissprot:TPSN_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:TPSN_HUMAN pepstats swissprot:TPSN_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:TPSN_HUMAN pepwheel swissprot:TPSN_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:TPSN_HUMAN pepwindow swissprot:TPSN_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:TPSN_HUMAN sigcleave swissprot:TPSN_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:TPSN_HUMAN ## Database ID URL or Descriptions # AltName KCJ14_HUMAN Inward rectifier K(+) channel Kir2.4 # AltName KCJ14_HUMAN Potassium channel, inwardly rectifying subfamily J member 14 # DrugBank DB01392 Yohimbine # Ensembl ENST00000342291 ENSP00000341479; ENSG00000182324 # Ensembl ENST00000391884 ENSP00000375756; ENSG00000182324 # FUNCTION KCJ14_HUMAN Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. KCNJ14 gives rise to low-conductance channels with a low affinity to the channel blockers Barium and Cesium (By similarity). {ECO 0000250}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0008076 voltage-gated potassium channel complex; TAS:ProtInc. # GO_component GO:0030425 dendrite; IEA:Ensembl. # GO_component GO:0043025 neuronal cell body; IEA:Ensembl. # GO_function GO:0005242 inward rectifier potassium channel activity; TAS:ProtInc. # GO_process GO:0010107 potassium ion import; IBA:GO_Central. # GO_process GO:0061337 cardiac conduction; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0008150 biological_process # GOslim_process GO:0055085 transmembrane transport # Gene3D 2.60.40.1400 -; 1. # Genevisible Q9UNX9 HS # HGNC HGNC:6260 KCNJ14 # InterPro IPR013518 K_chnl_inward-rec_Kir_cyto # InterPro IPR014756 Ig_E-set # InterPro IPR016449 K_chnl_inward-rec_Kir # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04725 Cholinergic synapse # MIM 603953 gene # Organism KCJ14_HUMAN Homo sapiens (Human) # PANTHER PTHR11767 PTHR11767 # PIRSF PIRSF005465 GIRK_kir # PRINTS PR01320 KIRCHANNEL # Pfam PF01007 IRK # Proteomes UP000005640 Chromosome 19 # Reactome R-HSA-1296053 Classical Kir channels # Reactome R-HSA-5576886 Phase 4 - resting membrane potential # RecName KCJ14_HUMAN ATP-sensitive inward rectifier potassium channel 14 # RefSeq NP_037480 NM_013348.3 # SIMILARITY Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ14 subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION KCJ14_HUMAN Membrane; Multi-pass membrane protein. # SUPFAM SSF81296 SSF81296 # TISSUE SPECIFICITY Expressed preferentially in retina. {ECO:0000269|PubMed 10942728}. # UCSC uc002pje human # eggNOG ENOG410XQ62 LUCA # eggNOG KOG3827 Eukaryota BLAST swissprot:KCJ14_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCJ14_HUMAN COXPRESdb 3770 http://coxpresdb.jp/data/gene/3770.shtml CleanEx HS_KCNJ14 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNJ14 DOI 10.1007/s003350010047 http://dx.doi.org/10.1007/s003350010047 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DrugBank DB01392 http://www.drugbank.ca/drugs/DB01392 EMBL AF081466 http://www.ebi.ac.uk/ena/data/view/AF081466 EMBL AF181988 http://www.ebi.ac.uk/ena/data/view/AF181988 EMBL BC035918 http://www.ebi.ac.uk/ena/data/view/BC035918 Ensembl ENST00000342291 http://www.ensembl.org/id/ENST00000342291 Ensembl ENST00000391884 http://www.ensembl.org/id/ENST00000391884 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0008076 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008076 GO_component GO:0030425 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030425 GO_component GO:0043025 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043025 GO_function GO:0005242 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005242 GO_process GO:0010107 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010107 GO_process GO:0061337 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061337 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 2.60.40.1400 http://www.cathdb.info/version/latest/superfamily/2.60.40.1400 GeneCards KCNJ14 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNJ14 GeneID 3770 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=3770 GeneTree ENSGT00760000118842 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118842 HGNC HGNC:6260 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6260 HOGENOM HOG000237325 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000237325&db=HOGENOM6 HOVERGEN HBG006178 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG006178&db=HOVERGEN HPA HPA071765 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA071765 InParanoid Q9UNX9 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9UNX9 InterPro IPR013518 http://www.ebi.ac.uk/interpro/entry/IPR013518 InterPro IPR014756 http://www.ebi.ac.uk/interpro/entry/IPR014756 InterPro IPR016449 http://www.ebi.ac.uk/interpro/entry/IPR016449 Jabion 3770 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=3770 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:3770 http://www.genome.jp/dbget-bin/www_bget?hsa:3770 KEGG_Orthology KO:K05007 http://www.genome.jp/dbget-bin/www_bget?KO:K05007 KEGG_Pathway ko04725 http://www.genome.jp/kegg-bin/show_pathway?ko04725 MIM 603953 http://www.ncbi.nlm.nih.gov/omim/603953 OMA CRNGWVP http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=CRNGWVP OrthoDB EOG091G08HC http://cegg.unige.ch/orthodb/results?searchtext=EOG091G08HC PANTHER PTHR11767 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11767 PRINTS PR01320 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01320 PSORT swissprot:KCJ14_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCJ14_HUMAN PSORT-B swissprot:KCJ14_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCJ14_HUMAN PSORT2 swissprot:KCJ14_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCJ14_HUMAN Pfam PF01007 http://pfam.xfam.org/family/PF01007 PharmGKB PA30045 http://www.pharmgkb.org/do/serve?objId=PA30045&objCls=Gene Phobius swissprot:KCJ14_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCJ14_HUMAN PhylomeDB Q9UNX9 http://phylomedb.org/?seqid=Q9UNX9 ProteinModelPortal Q9UNX9 http://www.proteinmodelportal.org/query/uniprot/Q9UNX9 PubMed 10723734 http://www.ncbi.nlm.nih.gov/pubmed/10723734 PubMed 10942728 http://www.ncbi.nlm.nih.gov/pubmed/10942728 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 Reactome R-HSA-1296053 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1296053 Reactome R-HSA-5576886 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576886 RefSeq NP_037480 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_037480 SMR Q9UNX9 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9UNX9 STRING 9606.ENSP00000341479 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000341479&targetmode=cogs SUPFAM SSF81296 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81296 UCSC uc002pje http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002pje&org=rat UniGene Hs.144011 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.144011 UniGene Hs.745133 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.745133 UniProtKB KCJ14_HUMAN http://www.uniprot.org/uniprot/KCJ14_HUMAN UniProtKB-AC Q9UNX9 http://www.uniprot.org/uniprot/Q9UNX9 charge swissprot:KCJ14_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCJ14_HUMAN eggNOG ENOG410XQ62 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XQ62 eggNOG KOG3827 http://eggnogapi.embl.de/nog_data/html/tree/KOG3827 epestfind swissprot:KCJ14_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCJ14_HUMAN garnier swissprot:KCJ14_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCJ14_HUMAN helixturnhelix swissprot:KCJ14_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCJ14_HUMAN hmoment swissprot:KCJ14_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCJ14_HUMAN iep swissprot:KCJ14_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCJ14_HUMAN inforesidue swissprot:KCJ14_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCJ14_HUMAN neXtProt NX_Q9UNX9 http://www.nextprot.org/db/entry/NX_Q9UNX9 octanol swissprot:KCJ14_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCJ14_HUMAN pepcoil swissprot:KCJ14_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCJ14_HUMAN pepdigest swissprot:KCJ14_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCJ14_HUMAN pepinfo swissprot:KCJ14_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCJ14_HUMAN pepnet swissprot:KCJ14_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCJ14_HUMAN pepstats swissprot:KCJ14_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCJ14_HUMAN pepwheel swissprot:KCJ14_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCJ14_HUMAN pepwindow swissprot:KCJ14_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCJ14_HUMAN sigcleave swissprot:KCJ14_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCJ14_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S2536_HUMAN Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q96CQ1-1; Sequence=Displayed; Name=2; IsoId=Q96CQ1-2; Sequence=VSP_026240, VSP_026241; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=3; IsoId=Q96CQ1-3; Sequence=VSP_026242; Note=No experimental confirmation available.; Name=4; IsoId=Q96CQ1-4; Sequence=VSP_035517; Note=Gene prediction based on EST data.; # BIOPHYSICOCHEMICAL PROPERTIES S2536_HUMAN Kinetic parameters KM=1.19 mM for UTP (at 25 degrees Celsius) {ECO 0000269|PubMed 25320081}; KM=0.21 mM for CTP (at 25 degrees Celsius) {ECO 0000269|PubMed 25320081}; KM=2.5 mM for TTP (at 25 degrees Celsius) {ECO 0000269|PubMed 25320081}; KM=0.23 mM for GTP (at 25 degrees Celsius) {ECO 0000269|PubMed 25320081}; Vmax=30.7 umol/min/g enzyme toward UTP (at 25 degrees Celsius) {ECO 0000269|PubMed 25320081}; Vmax=51.2 umol/min/g enzyme toward CTP (at 25 degrees Celsius) {ECO 0000269|PubMed 25320081}; Vmax=8 umol/min/g enzyme toward TTP (at 25 degrees Celsius) {ECO 0000269|PubMed 25320081}; Vmax=23.6 umol/min/g enzyme toward GTP (at 25 degrees Celsius) {ECO 0000269|PubMed 25320081}; Note=The inhibitory constants (Ki) of these compounds are 1.3 um (UTP), 224 um (CTP), 276 um (GTP), and 181 um (ITP). CTP is the best substrate. {ECO 0000269|PubMed 25320081}; # BioGrid 120484 2 # CCDS CCDS3114 -. [Q96CQ1-3] # CCDS CCDS46927 -. [Q96CQ1-1] # ChiTaRS SLC25A36 human # Ensembl ENST00000324194 ENSP00000320688; ENSG00000114120. [Q96CQ1-1] # Ensembl ENST00000446041 ENSP00000401938; ENSG00000114120. [Q96CQ1-3] # Ensembl ENST00000502594 ENSP00000423319; ENSG00000114120. [Q96CQ1-2] # Ensembl ENST00000631654 ENSP00000487839; ENSG00000114120. [Q96CQ1-2] # ExpressionAtlas Q96CQ1 baseline and differential # FUNCTION S2536_HUMAN Mitochondrial transporter that imports/exports pyrimidine nucleotides into and from mitochondria. Transports preferentially cytosine and uracil (deoxy)nucleoside mono-, di-, and triphosphates by uniport and antiport mechanism. Also transports guanine but not adenine (deoxy)nucleotides. Is inhibited strongly by pyridoxal 5'-phosphate, 4,7-diphenyl-1,10- phenanthroline, tannic acid, and mercurials (mercury dichloride, Mersalyl acid, p-hydroxymercuribenzoate). Participates in mitochondrial genome maintenance, regulation of mitochondrial membrane potential and mitochondrial respiration. {ECO 0000269|PubMed 25320081}. # GO_component GO:0005739 mitochondrion; IDA:UniProtKB. # GO_component GO:0005743 mitochondrial inner membrane; IEA:UniProtKB-SubCell. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0015218 pyrimidine nucleotide transmembrane transporter activity; IDA:UniProtKB. # GO_process GO:0000002 mitochondrial genome maintenance; IDA:UniProtKB. # GO_process GO:0006864 pyrimidine nucleotide transport; IDA:UniProtKB. # GO_process GO:0007005 mitochondrion organization; IDA:UniProtKB. # GO_process GO:0051881 regulation of mitochondrial membrane potential; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005739 mitochondrion # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007005 mitochondrion organization # GOslim_process GO:0008150 biological_process # Gene3D 1.50.40.10 -; 1. # Genevisible Q96CQ1 HS # HGNC HGNC:25554 SLC25A36 # InterPro IPR002067 Mit_carrier # InterPro IPR018108 Mitochondrial_sb/sol_carrier # InterPro IPR023395 Mt_carrier_dom # KEGG_Brite ko02001 Solute carrier family # MIM 616149 gene # Organism S2536_HUMAN Homo sapiens (Human) # PRINTS PR00926 MITOCARRIER # PROSITE PS50920 SOLCAR; 3 # Pfam PF00153 Mito_carr; 3 # Proteomes UP000005640 Chromosome 3 # RecName S2536_HUMAN Solute carrier family 25 member 36 # RefSeq NP_001098117 NM_001104647.1. [Q96CQ1-1] # RefSeq NP_060625 NM_018155.2. [Q96CQ1-3] # SIMILARITY Belongs to the mitochondrial carrier (TC 2.A.29) family. {ECO 0000305}. # SIMILARITY Contains 3 Solcar repeats. {ECO:0000255|PROSITE- ProRule PRU00282}. # SUBCELLULAR LOCATION S2536_HUMAN Mitochondrion inner membrane {ECO 0000305|PubMed 25320081}; Multi-pass membrane protein {ECO 0000255}. # SUPFAM SSF103506 SSF103506 # TCDB 2.A.29.10 the mitochondrial carrier (mc) family # TISSUE SPECIFICITY Expressed at moderate level. {ECO:0000269|PubMed 17210862}. # UCSC uc003etr human. [Q96CQ1-1] # eggNOG ENOG410XS20 LUCA # eggNOG KOG0757 Eukaryota BLAST swissprot:S2536_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S2536_HUMAN COXPRESdb 55186 http://coxpresdb.jp/data/gene/55186.shtml CleanEx HS_SLC25A36 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC25A36 DOI 10.1001/archopht.125.1.117 http://dx.doi.org/10.1001/archopht.125.1.117 DOI 10.1038/nature04728 http://dx.doi.org/10.1038/nature04728 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.M114.610808 http://dx.doi.org/10.1074/jbc.M114.610808 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1101/gr.GR1547R http://dx.doi.org/10.1101/gr.GR1547R EMBL AC108727 http://www.ebi.ac.uk/ena/data/view/AC108727 EMBL AC132032 http://www.ebi.ac.uk/ena/data/view/AC132032 EMBL AK001480 http://www.ebi.ac.uk/ena/data/view/AK001480 EMBL AL136803 http://www.ebi.ac.uk/ena/data/view/AL136803 EMBL BC014064 http://www.ebi.ac.uk/ena/data/view/BC014064 EMBL BC019859 http://www.ebi.ac.uk/ena/data/view/BC019859 EMBL CH471052 http://www.ebi.ac.uk/ena/data/view/CH471052 EMBL CH471052 http://www.ebi.ac.uk/ena/data/view/CH471052 Ensembl ENST00000324194 http://www.ensembl.org/id/ENST00000324194 Ensembl ENST00000446041 http://www.ensembl.org/id/ENST00000446041 Ensembl ENST00000502594 http://www.ensembl.org/id/ENST00000502594 Ensembl ENST00000631654 http://www.ensembl.org/id/ENST00000631654 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0015218 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015218 GO_process GO:0000002 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000002 GO_process GO:0006864 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006864 GO_process GO:0007005 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007005 GO_process GO:0051881 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051881 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007005 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007005 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 Gene3D 1.50.40.10 http://www.cathdb.info/version/latest/superfamily/1.50.40.10 GeneCards SLC25A36 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC25A36 GeneID 55186 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=55186 GeneTree ENSGT00550000074670 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074670 H-InvDB HIX0021205 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0021205 HGNC HGNC:25554 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:25554 HOGENOM HOG000188210 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000188210&db=HOGENOM6 HOVERGEN HBG059891 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG059891&db=HOVERGEN HPA HPA027036 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA027036 InParanoid Q96CQ1 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q96CQ1 IntAct Q96CQ1 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q96CQ1* InterPro IPR002067 http://www.ebi.ac.uk/interpro/entry/IPR002067 InterPro IPR018108 http://www.ebi.ac.uk/interpro/entry/IPR018108 InterPro IPR023395 http://www.ebi.ac.uk/interpro/entry/IPR023395 Jabion 55186 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=55186 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:55186 http://www.genome.jp/dbget-bin/www_bget?hsa:55186 KEGG_Orthology KO:K15116 http://www.genome.jp/dbget-bin/www_bget?KO:K15116 MIM 616149 http://www.ncbi.nlm.nih.gov/omim/616149 MINT MINT-1428592 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1428592 OMA LNGIFDP http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=LNGIFDP OrthoDB EOG091G0BCW http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0BCW PRINTS PR00926 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00926 PROSITE PS50920 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50920 PSORT swissprot:S2536_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S2536_HUMAN PSORT-B swissprot:S2536_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S2536_HUMAN PSORT2 swissprot:S2536_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S2536_HUMAN Pfam PF00153 http://pfam.xfam.org/family/PF00153 PharmGKB PA142670908 http://www.pharmgkb.org/do/serve?objId=PA142670908&objCls=Gene Phobius swissprot:S2536_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S2536_HUMAN PhylomeDB Q96CQ1 http://phylomedb.org/?seqid=Q96CQ1 ProteinModelPortal Q96CQ1 http://www.proteinmodelportal.org/query/uniprot/Q96CQ1 PubMed 11230166 http://www.ncbi.nlm.nih.gov/pubmed/11230166 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16641997 http://www.ncbi.nlm.nih.gov/pubmed/16641997 PubMed 17210862 http://www.ncbi.nlm.nih.gov/pubmed/17210862 PubMed 25320081 http://www.ncbi.nlm.nih.gov/pubmed/25320081 RefSeq NP_001098117 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001098117 RefSeq NP_060625 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_060625 STRING 9606.ENSP00000320688 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000320688&targetmode=cogs SUPFAM SSF103506 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103506 TCDB 2.A.29.10 http://www.tcdb.org/search/result.php?tc=2.A.29.10 UCSC uc003etr http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003etr&org=rat UniGene Hs.144130 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.144130 UniProtKB S2536_HUMAN http://www.uniprot.org/uniprot/S2536_HUMAN UniProtKB-AC Q96CQ1 http://www.uniprot.org/uniprot/Q96CQ1 charge swissprot:S2536_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S2536_HUMAN eggNOG ENOG410XS20 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XS20 eggNOG KOG0757 http://eggnogapi.embl.de/nog_data/html/tree/KOG0757 epestfind swissprot:S2536_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S2536_HUMAN garnier swissprot:S2536_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S2536_HUMAN helixturnhelix swissprot:S2536_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S2536_HUMAN hmoment swissprot:S2536_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S2536_HUMAN iep swissprot:S2536_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S2536_HUMAN inforesidue swissprot:S2536_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S2536_HUMAN neXtProt NX_Q96CQ1 http://www.nextprot.org/db/entry/NX_Q96CQ1 octanol swissprot:S2536_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S2536_HUMAN pepcoil swissprot:S2536_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S2536_HUMAN pepdigest swissprot:S2536_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S2536_HUMAN pepinfo swissprot:S2536_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S2536_HUMAN pepnet swissprot:S2536_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S2536_HUMAN pepstats swissprot:S2536_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S2536_HUMAN pepwheel swissprot:S2536_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S2536_HUMAN pepwindow swissprot:S2536_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S2536_HUMAN sigcleave swissprot:S2536_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S2536_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S22A6_HUMAN Event=Alternative splicing; Named isoforms=4; Name=1; Synonyms=OAT1-1; IsoId=Q4U2R8-1; Sequence=Displayed; Name=2; Synonyms=OAT1-2; IsoId=Q4U2R8-2; Sequence=VSP_032169; Name=3; Synonyms=OAT1-3; IsoId=Q4U2R8-3; Sequence=VSP_032168, VSP_032169; Note=No experimental confirmation available.; Name=4; Synonyms=OAT1-4; IsoId=Q4U2R8-4; Sequence=VSP_032168; Note=No experimental confirmation available.; # AltName S22A6_HUMAN Organic anion transporter 1 # AltName S22A6_HUMAN PAH transporter # AltName S22A6_HUMAN Renal organic anion transporter 1 # BIOPHYSICOCHEMICAL PROPERTIES S22A6_HUMAN Kinetic parameters KM=9.3 uM for PAH (isoform 1) {ECO 0000269|PubMed 10462545, ECO 0000269|PubMed 10964714, ECO 0000269|PubMed 12538807, ECO 0000269|PubMed 15846473}; KM=4 uM for PAH (isoform 2) {ECO 0000269|PubMed 10462545, ECO 0000269|PubMed 10964714, ECO 0000269|PubMed 12538807, ECO 0000269|PubMed 15846473}; KM=11 uM for edaravone {ECO 0000269|PubMed 10462545, ECO 0000269|PubMed 10964714, ECO 0000269|PubMed 12538807, ECO 0000269|PubMed 15846473}; KM=46 uM for cidofovir {ECO 0000269|PubMed 10462545, ECO 0000269|PubMed 10964714, ECO 0000269|PubMed 12538807, ECO 0000269|PubMed 15846473}; KM=30 uM for adefovir {ECO 0000269|PubMed 10462545, ECO 0000269|PubMed 10964714, ECO 0000269|PubMed 12538807, ECO 0000269|PubMed 15846473}; KM=5.77 uM for 2,4-D {ECO 0000269|PubMed 10462545, ECO 0000269|PubMed 10964714, ECO 0000269|PubMed 12538807, ECO 0000269|PubMed 15846473}; KM=23.5 uM for HA {ECO 0000269|PubMed 10462545, ECO 0000269|PubMed 10964714, ECO 0000269|PubMed 12538807, ECO 0000269|PubMed 15846473}; KM=14 uM for IA {ECO 0000269|PubMed 10462545, ECO 0000269|PubMed 10964714, ECO 0000269|PubMed 12538807, ECO 0000269|PubMed 15846473}; KM=20.5 uM for IS {ECO 0000269|PubMed 10462545, ECO 0000269|PubMed 10964714, ECO 0000269|PubMed 12538807, ECO 0000269|PubMed 15846473}; KM=141 uM for CMPF {ECO 0000269|PubMed 10462545, ECO 0000269|PubMed 10964714, ECO 0000269|PubMed 12538807, ECO 0000269|PubMed 15846473}; Vmax=534 pmol/min/mg enzyme for 2,4-D uptake {ECO 0000269|PubMed 10462545, ECO 0000269|PubMed 10964714, ECO 0000269|PubMed 12538807, ECO 0000269|PubMed 15846473}; Vmax=430 pmol/min/mg enzyme for HA uptake {ECO 0000269|PubMed 10462545, ECO 0000269|PubMed 10964714, ECO 0000269|PubMed 12538807, ECO 0000269|PubMed 15846473}; Vmax=110 pmol/min/mg enzyme for IA uptake {ECO 0000269|PubMed 10462545, ECO 0000269|PubMed 10964714, ECO 0000269|PubMed 12538807, ECO 0000269|PubMed 15846473}; Vmax=216 pmol/min/mg enzyme for IS uptake {ECO 0000269|PubMed 10462545, ECO 0000269|PubMed 10964714, ECO 0000269|PubMed 12538807, ECO 0000269|PubMed 15846473}; Vmax=801 pmol/min/mg enzyme for CMPF uptake {ECO 0000269|PubMed 10462545, ECO 0000269|PubMed 10964714, ECO 0000269|PubMed 12538807, ECO 0000269|PubMed 15846473}; # BioGrid 114759 20 # CCDS CCDS31591 -. [Q4U2R8-1] # CCDS CCDS44631 -. [Q4U2R8-4] # CCDS CCDS44632 -. [Q4U2R8-3] # CCDS CCDS8041 -. [Q4U2R8-2] # CDD cd06174 MFS # DOMAIN S22A6_HUMAN Multiple cysteine residues are necessary for proper targeting to the plasma membrane. {ECO 0000250}. # DrugBank DB00091 Cyclosporine # DrugBank DB00140 Riboflavin # DrugBank DB00158 Folic Acid # DrugBank DB00168 Aspartame # DrugBank DB00175 Pravastatin # DrugBank DB00229 Cefotiam # DrugBank DB00254 Doxycycline # DrugBank DB00286 Conjugated Estrogens # DrugBank DB00300 Tenofovir # DrugBank DB00313 Valproic Acid # DrugBank DB00316 Acetaminophen # DrugBank DB00319 Piperacillin # DrugBank DB00328 Indomethacin # DrugBank DB00345 Aminohippurate # DrugBank DB00369 Cidofovir # DrugBank DB00432 Trifluridine # DrugBank DB00438 Ceftazidime # DrugBank DB00446 Chloramphenicol # DrugBank DB00456 Cefalotin # DrugBank DB00493 Cefotaxime # DrugBank DB00495 Zidovudine # DrugBank DB00500 Tolmetin # DrugBank DB00501 Cimetidine # DrugBank DB00512 Vancomycin # DrugBank DB00520 Caspofungin # DrugBank DB00529 Foscarnet # DrugBank DB00554 Piroxicam # DrugBank DB00563 Methotrexate # DrugBank DB00567 Cephalexin # DrugBank DB00577 Valaciclovir # DrugBank DB00578 Carbenicillin # DrugBank DB00584 Enalapril # DrugBank DB00586 Diclofenac # DrugBank DB00595 Oxytetracycline # DrugBank DB00605 Sulindac # DrugBank DB00606 Cyclothiazide # DrugBank DB00607 Nafcillin # DrugBank DB00649 Stavudine # DrugBank DB00672 Chlorpropamide # DrugBank DB00678 Losartan # DrugBank DB00693 Fluorescein # DrugBank DB00695 Furosemide # DrugBank DB00703 Methazolamide # DrugBank DB00709 Lamivudine # DrugBank DB00712 Flurbiprofen # DrugBank DB00718 Adefovir Dipivoxil # DrugBank DB00731 Nateglinide # DrugBank DB00749 Etodolac # DrugBank DB00759 Tetracycline # DrugBank DB00779 Nalidixic Acid # DrugBank DB00787 Aciclovir # DrugBank DB00788 Naproxen # DrugBank DB00798 Gentamicin # DrugBank DB00812 Phenylbutazone # DrugBank DB00819 Acetazolamide # DrugBank DB00821 Carprofen # DrugBank DB00827 Cinoxacin # DrugBank DB00861 Diflunisal # DrugBank DB00880 Chlorothiazide # DrugBank DB00887 Bumetanide # DrugBank DB00900 Didanosine # DrugBank DB00903 Ethacrynic acid # DrugBank DB00917 Dinoprostone # DrugBank DB00936 Salicylic acid # DrugBank DB00939 Meclofenamic acid # DrugBank DB00943 Zalcitabine # DrugBank DB00945 Acetylsalicylic acid # DrugBank DB00999 Hydrochlorothiazide # DrugBank DB01004 Ganciclovir # DrugBank DB01009 Ketoprofen # DrugBank DB01016 Glyburide # DrugBank DB01017 Minocycline # DrugBank DB01032 Probenecid # DrugBank DB01050 Ibuprofen # DrugBank DB01051 Novobiocin # DrugBank DB01053 Benzylpenicillin # DrugBank DB01059 Norfloxacin # DrugBank DB01060 Amoxicillin # DrugBank DB01082 Streptomycin # DrugBank DB01124 Tolbutamide # DrugBank DB01137 Levofloxacin # DrugBank DB01140 Cefadroxil # DrugBank DB01147 Cloxacillin # DrugBank DB01160 Dinoprost Tromethamine # DrugBank DB01165 Ofloxacin # DrugBank DB01197 Captopril # DrugBank DB01212 Ceftriaxone # DrugBank DB01237 Bromodiphenhydramine # DrugBank DB01326 Cefamandole # DrugBank DB01327 Cefazolin # DrugBank DB01329 Cefoperazone # DrugBank DB01333 Cefradine # DrugBank DB01414 Cefacetrile # DrugBank DB01424 Aminophenazone # DrugBank DB01435 Antipyrine # DrugBank DB01597 Cilastatin # DrugBank DB06151 Acetylcysteine # DrugBank DB08912 Dabrafenib # Ensembl ENST00000360421 ENSP00000353597; ENSG00000197901. [Q4U2R8-2] # Ensembl ENST00000377871 ENSP00000367102; ENSG00000197901. [Q4U2R8-1] # Ensembl ENST00000421062 ENSP00000404441; ENSG00000197901. [Q4U2R8-4] # Ensembl ENST00000458333 ENSP00000396401; ENSG00000197901. [Q4U2R8-3] # ExpressionAtlas Q4U2R8 baseline and differential # FUNCTION S22A6_HUMAN Involved in the renal elimination of endogenous and exogenous organic anions. Functions as organic anion exchanger when the uptake of one molecule of organic anion is coupled with an efflux of one molecule of endogenous dicarboxylic acid (glutarate, ketoglutarate, etc). Mediates the sodium-independent uptake of 2,3-dimercapto-1-propanesulfonic acid (DMPS) (By similarity). Mediates the sodium-independent uptake of p- aminohippurate (PAH), ochratoxin (OTA), acyclovir (ACV), 3'-azido- 3-'deoxythymidine (AZT), cimetidine (CMD), 2,4-dichloro- phenoxyacetate (2,4-D), hippurate (HA), indoleacetate (IA), indoxyl sulfate (IS) and 3-carboxy-4-methyl-5-propyl-2- furanpropionate (CMPF), cidofovir, adefovir, 9-(2- phosphonylmethoxyethyl) guanine (PMEG), 9-(2- phosphonylmethoxyethyl) diaminopurine (PMEDAP) and edaravone sulfate. PAH uptake is inhibited by p- chloromercuribenzenesulphonate (PCMBS), diethyl pyrocarbonate (DEPC), sulindac, diclofenac, carprofen, glutarate and okadaic acid (By similarity). PAH uptake is inhibited by benzothiazolylcysteine (BTC), S-chlorotrifluoroethylcysteine (CTFC), cysteine S-conjugates S-dichlorovinylcysteine (DCVC), furosemide, steviol, phorbol 12-myristate 13-acetate (PMA), calcium ionophore A23187, benzylpenicillin, furosemide, indomethacin, bumetamide, losartan, probenecid, phenol red, urate, and alpha-ketoglutarate. {ECO 0000250, ECO 0000269|PubMed 12538807, ECO 0000269|PubMed 15644426, ECO 0000269|PubMed 17038320, ECO 0000269|PubMed 17502342, ECO 0000269|PubMed 9762842, ECO 0000269|PubMed 9887087}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IDA:UniProtKB. # GO_component GO:0005901 caveola; IEA:Ensembl. # GO_component GO:0016323 basolateral plasma membrane; IDA:UniProtKB. # GO_component GO:0043234 protein complex; IEA:Ensembl. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0005452 inorganic anion exchanger activity; IDA:UniProtKB. # GO_function GO:0008514 organic anion transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0015347 sodium-independent organic anion transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0031404 chloride ion binding; IEA:Ensembl. # GO_function S22A6_HUMAN GO 0015301 anion anion antiporter activity; TAS Reactome. # GO_process GO:0015711 organic anion transport; IDA:UniProtKB. # GO_process GO:0015742 alpha-ketoglutarate transport; IDA:UniProtKB. # GO_process GO:0031427 response to methotrexate; IEA:Ensembl. # GO_process GO:0043252 sodium-independent organic anion transport; IDA:UniProtKB. # GO_process GO:0051260 protein homooligomerization; IEA:Ensembl. # GO_process GO:0097254 renal tubular secretion; IMP:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # Genevisible Q4U2R8 HS # HGNC HGNC:10970 SLC22A6 # INTERACTION S22A6_HUMAN Q92624 APPBP2; NbExp=3; IntAct=EBI-749741, EBI-743771; # InterPro IPR004749 Orgcat_transp/SVOP # InterPro IPR005828 MFS_sugar_transport-like # InterPro IPR020846 MFS_dom # KEGG_Brite ko02000 Transporters # KEGG_Brite ko02001 Solute carrier family # MIM 607582 gene # Organism S22A6_HUMAN Homo sapiens (Human) # PROSITE PS50850 MFS # PTM S22A6_HUMAN Glycosylated. Glycosylation at Asn-113 may occur at a secondary level. Glycosylation is necessary for proper targeting of the transporter to the plasma membrane. {ECO 0000269|PubMed 10462545, ECO 0000269|PubMed 14749323}. # Pfam PF00083 Sugar_tr # Proteomes UP000005640 Chromosome 11 # Reactome R-HSA-561048 Organic anion transport # RecName S22A6_HUMAN Solute carrier family 22 member 6 # RefSeq NP_004781 NM_004790.4. [Q4U2R8-1] # RefSeq NP_695008 NM_153276.2. [Q4U2R8-2] # RefSeq NP_695009 NM_153277.2. [Q4U2R8-3] # RefSeq NP_695010 NM_153278.2. [Q4U2R8-4] # SIMILARITY Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family. {ECO 0000305}. # SUBCELLULAR LOCATION S22A6_HUMAN Cell membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # SUPFAM SSF103473 SSF103473 # TCDB 2.A.1.19.31 the major facilitator superfamily (mfs) # TIGRFAMs TIGR00898 2A0119 # TISSUE SPECIFICITY S22A6_HUMAN Strongly expressed in kidney and to a lower extent in liver, skeletal muscle, brain and placenta. Found at the basolateral membrane of the proximal tubule. {ECO 0000269|PubMed 10049739, ECO 0000269|PubMed 10462545, ECO 0000269|PubMed 10964714, ECO 0000269|PubMed 9887087, ECO 0000269|PubMed 9950961}. # UCSC uc001nwj human. [Q4U2R8-1] # WEB RESOURCE S22A6_HUMAN Name=NIEHS-SNPs; URL="http //egp.gs.washington.edu/data/slc22a6/"; # eggNOG COG0477 LUCA # eggNOG KOG0255 Eukaryota BLAST swissprot:S22A6_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S22A6_HUMAN BioCyc ZFISH:G66-32260-MONOMER http://biocyc.org/getid?id=ZFISH:G66-32260-MONOMER COXPRESdb 9356 http://coxpresdb.jp/data/gene/9356.shtml DOI 10.1006/bbrc.1998.9978 http://dx.doi.org/10.1006/bbrc.1998.9978 DOI 10.1006/bbrc.2000.3230 http://dx.doi.org/10.1006/bbrc.2000.3230 DOI 10.1007/s11095-005-2503-0 http://dx.doi.org/10.1007/s11095-005-2503-0 DOI 10.1038/nature04632 http://dx.doi.org/10.1038/nature04632 DOI 10.1074/jbc.M400197200 http://dx.doi.org/10.1074/jbc.M400197200 DOI 10.1074/jbc.M404686200 http://dx.doi.org/10.1074/jbc.M404686200 DOI 10.1074/jbc.M608834200 http://dx.doi.org/10.1074/jbc.M608834200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1523-1755.2005.00612.x http://dx.doi.org/10.1111/j.1523-1755.2005.00612.x DOI 10.1124/dmd.106.013912 http://dx.doi.org/10.1124/dmd.106.013912 DOI 10.1124/jpet.102.043455 http://dx.doi.org/10.1124/jpet.102.043455 DOI 10.1124/jpet.104.080366 http://dx.doi.org/10.1124/jpet.104.080366 DOI 10.1124/jpet.105.084301 http://dx.doi.org/10.1124/jpet.105.084301 DOI 10.1159/000025863 http://dx.doi.org/10.1159/000025863 DrugBank DB00091 http://www.drugbank.ca/drugs/DB00091 DrugBank DB00140 http://www.drugbank.ca/drugs/DB00140 DrugBank DB00158 http://www.drugbank.ca/drugs/DB00158 DrugBank DB00168 http://www.drugbank.ca/drugs/DB00168 DrugBank DB00175 http://www.drugbank.ca/drugs/DB00175 DrugBank DB00229 http://www.drugbank.ca/drugs/DB00229 DrugBank DB00254 http://www.drugbank.ca/drugs/DB00254 DrugBank DB00286 http://www.drugbank.ca/drugs/DB00286 DrugBank DB00300 http://www.drugbank.ca/drugs/DB00300 DrugBank DB00313 http://www.drugbank.ca/drugs/DB00313 DrugBank DB00316 http://www.drugbank.ca/drugs/DB00316 DrugBank DB00319 http://www.drugbank.ca/drugs/DB00319 DrugBank DB00328 http://www.drugbank.ca/drugs/DB00328 DrugBank DB00345 http://www.drugbank.ca/drugs/DB00345 DrugBank DB00369 http://www.drugbank.ca/drugs/DB00369 DrugBank DB00432 http://www.drugbank.ca/drugs/DB00432 DrugBank DB00438 http://www.drugbank.ca/drugs/DB00438 DrugBank DB00446 http://www.drugbank.ca/drugs/DB00446 DrugBank DB00456 http://www.drugbank.ca/drugs/DB00456 DrugBank DB00493 http://www.drugbank.ca/drugs/DB00493 DrugBank DB00495 http://www.drugbank.ca/drugs/DB00495 DrugBank DB00500 http://www.drugbank.ca/drugs/DB00500 DrugBank DB00501 http://www.drugbank.ca/drugs/DB00501 DrugBank DB00512 http://www.drugbank.ca/drugs/DB00512 DrugBank DB00520 http://www.drugbank.ca/drugs/DB00520 DrugBank DB00529 http://www.drugbank.ca/drugs/DB00529 DrugBank DB00554 http://www.drugbank.ca/drugs/DB00554 DrugBank DB00563 http://www.drugbank.ca/drugs/DB00563 DrugBank DB00567 http://www.drugbank.ca/drugs/DB00567 DrugBank DB00577 http://www.drugbank.ca/drugs/DB00577 DrugBank DB00578 http://www.drugbank.ca/drugs/DB00578 DrugBank DB00584 http://www.drugbank.ca/drugs/DB00584 DrugBank DB00586 http://www.drugbank.ca/drugs/DB00586 DrugBank DB00595 http://www.drugbank.ca/drugs/DB00595 DrugBank DB00605 http://www.drugbank.ca/drugs/DB00605 DrugBank DB00606 http://www.drugbank.ca/drugs/DB00606 DrugBank DB00607 http://www.drugbank.ca/drugs/DB00607 DrugBank DB00649 http://www.drugbank.ca/drugs/DB00649 DrugBank DB00672 http://www.drugbank.ca/drugs/DB00672 DrugBank DB00678 http://www.drugbank.ca/drugs/DB00678 DrugBank DB00693 http://www.drugbank.ca/drugs/DB00693 DrugBank DB00695 http://www.drugbank.ca/drugs/DB00695 DrugBank DB00703 http://www.drugbank.ca/drugs/DB00703 DrugBank DB00709 http://www.drugbank.ca/drugs/DB00709 DrugBank DB00712 http://www.drugbank.ca/drugs/DB00712 DrugBank DB00718 http://www.drugbank.ca/drugs/DB00718 DrugBank DB00731 http://www.drugbank.ca/drugs/DB00731 DrugBank DB00749 http://www.drugbank.ca/drugs/DB00749 DrugBank DB00759 http://www.drugbank.ca/drugs/DB00759 DrugBank DB00779 http://www.drugbank.ca/drugs/DB00779 DrugBank DB00787 http://www.drugbank.ca/drugs/DB00787 DrugBank DB00788 http://www.drugbank.ca/drugs/DB00788 DrugBank DB00798 http://www.drugbank.ca/drugs/DB00798 DrugBank DB00812 http://www.drugbank.ca/drugs/DB00812 DrugBank DB00819 http://www.drugbank.ca/drugs/DB00819 DrugBank DB00821 http://www.drugbank.ca/drugs/DB00821 DrugBank DB00827 http://www.drugbank.ca/drugs/DB00827 DrugBank DB00861 http://www.drugbank.ca/drugs/DB00861 DrugBank DB00880 http://www.drugbank.ca/drugs/DB00880 DrugBank DB00887 http://www.drugbank.ca/drugs/DB00887 DrugBank DB00900 http://www.drugbank.ca/drugs/DB00900 DrugBank DB00903 http://www.drugbank.ca/drugs/DB00903 DrugBank DB00917 http://www.drugbank.ca/drugs/DB00917 DrugBank DB00936 http://www.drugbank.ca/drugs/DB00936 DrugBank DB00939 http://www.drugbank.ca/drugs/DB00939 DrugBank DB00943 http://www.drugbank.ca/drugs/DB00943 DrugBank DB00945 http://www.drugbank.ca/drugs/DB00945 DrugBank DB00999 http://www.drugbank.ca/drugs/DB00999 DrugBank DB01004 http://www.drugbank.ca/drugs/DB01004 DrugBank DB01009 http://www.drugbank.ca/drugs/DB01009 DrugBank DB01016 http://www.drugbank.ca/drugs/DB01016 DrugBank DB01017 http://www.drugbank.ca/drugs/DB01017 DrugBank DB01032 http://www.drugbank.ca/drugs/DB01032 DrugBank DB01050 http://www.drugbank.ca/drugs/DB01050 DrugBank DB01051 http://www.drugbank.ca/drugs/DB01051 DrugBank DB01053 http://www.drugbank.ca/drugs/DB01053 DrugBank DB01059 http://www.drugbank.ca/drugs/DB01059 DrugBank DB01060 http://www.drugbank.ca/drugs/DB01060 DrugBank DB01082 http://www.drugbank.ca/drugs/DB01082 DrugBank DB01124 http://www.drugbank.ca/drugs/DB01124 DrugBank DB01137 http://www.drugbank.ca/drugs/DB01137 DrugBank DB01140 http://www.drugbank.ca/drugs/DB01140 DrugBank DB01147 http://www.drugbank.ca/drugs/DB01147 DrugBank DB01160 http://www.drugbank.ca/drugs/DB01160 DrugBank DB01165 http://www.drugbank.ca/drugs/DB01165 DrugBank DB01197 http://www.drugbank.ca/drugs/DB01197 DrugBank DB01212 http://www.drugbank.ca/drugs/DB01212 DrugBank DB01237 http://www.drugbank.ca/drugs/DB01237 DrugBank DB01326 http://www.drugbank.ca/drugs/DB01326 DrugBank DB01327 http://www.drugbank.ca/drugs/DB01327 DrugBank DB01329 http://www.drugbank.ca/drugs/DB01329 DrugBank DB01333 http://www.drugbank.ca/drugs/DB01333 DrugBank DB01414 http://www.drugbank.ca/drugs/DB01414 DrugBank DB01424 http://www.drugbank.ca/drugs/DB01424 DrugBank DB01435 http://www.drugbank.ca/drugs/DB01435 DrugBank DB01597 http://www.drugbank.ca/drugs/DB01597 DrugBank DB06151 http://www.drugbank.ca/drugs/DB06151 DrugBank DB08912 http://www.drugbank.ca/drugs/DB08912 EMBL AB009697 http://www.ebi.ac.uk/ena/data/view/AB009697 EMBL AB009698 http://www.ebi.ac.uk/ena/data/view/AB009698 EMBL AF057039 http://www.ebi.ac.uk/ena/data/view/AF057039 EMBL AF097490 http://www.ebi.ac.uk/ena/data/view/AF097490 EMBL AF104038 http://www.ebi.ac.uk/ena/data/view/AF104038 EMBL AF124373 http://www.ebi.ac.uk/ena/data/view/AF124373 EMBL AJ249369 http://www.ebi.ac.uk/ena/data/view/AJ249369 EMBL AJ251529 http://www.ebi.ac.uk/ena/data/view/AJ251529 EMBL AJ271205 http://www.ebi.ac.uk/ena/data/view/AJ271205 EMBL AP001858 http://www.ebi.ac.uk/ena/data/view/AP001858 EMBL BC033682 http://www.ebi.ac.uk/ena/data/view/BC033682 EMBL CH471076 http://www.ebi.ac.uk/ena/data/view/CH471076 EMBL CH471076 http://www.ebi.ac.uk/ena/data/view/CH471076 EMBL CH471076 http://www.ebi.ac.uk/ena/data/view/CH471076 EMBL CH471076 http://www.ebi.ac.uk/ena/data/view/CH471076 EMBL EU567146 http://www.ebi.ac.uk/ena/data/view/EU567146 Ensembl ENST00000360421 http://www.ensembl.org/id/ENST00000360421 Ensembl ENST00000377871 http://www.ensembl.org/id/ENST00000377871 Ensembl ENST00000421062 http://www.ensembl.org/id/ENST00000421062 Ensembl ENST00000458333 http://www.ensembl.org/id/ENST00000458333 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0005901 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005901 GO_component GO:0016323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016323 GO_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0005452 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005452 GO_function GO:0008514 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008514 GO_function GO:0015301 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015301 GO_function GO:0015347 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015347 GO_function GO:0031404 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031404 GO_process GO:0015711 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015711 GO_process GO:0015742 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015742 GO_process GO:0031427 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031427 GO_process GO:0043252 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043252 GO_process GO:0051260 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051260 GO_process GO:0097254 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097254 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GeneCards SLC22A6 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC22A6 GeneID 9356 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=9356 GeneTree ENSGT00760000118852 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118852 HGNC HGNC:10970 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10970 HOVERGEN HBG108433 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG108433&db=HOVERGEN InParanoid Q4U2R8 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q4U2R8 IntAct Q4U2R8 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q4U2R8* InterPro IPR004749 http://www.ebi.ac.uk/interpro/entry/IPR004749 InterPro IPR005828 http://www.ebi.ac.uk/interpro/entry/IPR005828 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 9356 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=9356 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:9356 http://www.genome.jp/dbget-bin/www_bget?hsa:9356 KEGG_Orthology KO:K08203 http://www.genome.jp/dbget-bin/www_bget?KO:K08203 MIM 607582 http://www.ncbi.nlm.nih.gov/omim/607582 MINT MINT-1474237 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1474237 OMA MIRQTGM http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=MIRQTGM OrthoDB EOG091G07CO http://cegg.unige.ch/orthodb/results?searchtext=EOG091G07CO PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PSORT swissprot:S22A6_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S22A6_HUMAN PSORT-B swissprot:S22A6_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S22A6_HUMAN PSORT2 swissprot:S22A6_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S22A6_HUMAN Pfam PF00083 http://pfam.xfam.org/family/PF00083 PharmGKB PA388 http://www.pharmgkb.org/do/serve?objId=PA388&objCls=Gene Phobius swissprot:S22A6_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S22A6_HUMAN PhylomeDB Q4U2R8 http://phylomedb.org/?seqid=Q4U2R8 ProteinModelPortal Q4U2R8 http://www.proteinmodelportal.org/query/uniprot/Q4U2R8 PubMed 10049739 http://www.ncbi.nlm.nih.gov/pubmed/10049739 PubMed 10462545 http://www.ncbi.nlm.nih.gov/pubmed/10462545 PubMed 10964714 http://www.ncbi.nlm.nih.gov/pubmed/10964714 PubMed 12538807 http://www.ncbi.nlm.nih.gov/pubmed/12538807 PubMed 14749323 http://www.ncbi.nlm.nih.gov/pubmed/14749323 PubMed 15145940 http://www.ncbi.nlm.nih.gov/pubmed/15145940 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15644426 http://www.ncbi.nlm.nih.gov/pubmed/15644426 PubMed 15846473 http://www.ncbi.nlm.nih.gov/pubmed/15846473 PubMed 15914676 http://www.ncbi.nlm.nih.gov/pubmed/15914676 PubMed 16164626 http://www.ncbi.nlm.nih.gov/pubmed/16164626 PubMed 16554811 http://www.ncbi.nlm.nih.gov/pubmed/16554811 PubMed 17038320 http://www.ncbi.nlm.nih.gov/pubmed/17038320 PubMed 17502342 http://www.ncbi.nlm.nih.gov/pubmed/17502342 PubMed 9762842 http://www.ncbi.nlm.nih.gov/pubmed/9762842 PubMed 9887087 http://www.ncbi.nlm.nih.gov/pubmed/9887087 PubMed 9950961 http://www.ncbi.nlm.nih.gov/pubmed/9950961 Reactome R-HSA-561048 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-561048 RefSeq NP_004781 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004781 RefSeq NP_695008 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_695008 RefSeq NP_695009 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_695009 RefSeq NP_695010 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_695010 STRING 9606.ENSP00000367102 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000367102&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.1.19.31 http://www.tcdb.org/search/result.php?tc=2.A.1.19.31 TIGRFAMs TIGR00898 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00898 UCSC uc001nwj http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001nwj&org=rat UniGene Hs.369252 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.369252 UniProtKB S22A6_HUMAN http://www.uniprot.org/uniprot/S22A6_HUMAN UniProtKB-AC Q4U2R8 http://www.uniprot.org/uniprot/Q4U2R8 charge swissprot:S22A6_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S22A6_HUMAN eggNOG COG0477 http://eggnogapi.embl.de/nog_data/html/tree/COG0477 eggNOG KOG0255 http://eggnogapi.embl.de/nog_data/html/tree/KOG0255 epestfind swissprot:S22A6_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S22A6_HUMAN garnier swissprot:S22A6_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S22A6_HUMAN helixturnhelix swissprot:S22A6_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S22A6_HUMAN hmoment swissprot:S22A6_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S22A6_HUMAN iep swissprot:S22A6_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S22A6_HUMAN inforesidue swissprot:S22A6_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S22A6_HUMAN neXtProt NX_Q4U2R8 http://www.nextprot.org/db/entry/NX_Q4U2R8 octanol swissprot:S22A6_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S22A6_HUMAN pepcoil swissprot:S22A6_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S22A6_HUMAN pepdigest swissprot:S22A6_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S22A6_HUMAN pepinfo swissprot:S22A6_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S22A6_HUMAN pepnet swissprot:S22A6_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S22A6_HUMAN pepstats swissprot:S22A6_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S22A6_HUMAN pepwheel swissprot:S22A6_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S22A6_HUMAN pepwindow swissprot:S22A6_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S22A6_HUMAN sigcleave swissprot:S22A6_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S22A6_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS CA2D2_HUMAN Event=Alternative splicing; Named isoforms=5; Name=1; Synonyms=Alpha2delta-2a; IsoId=Q9NY47-1; Sequence=Displayed; Name=2; Synonyms=Alpha2delta-2b; IsoId=Q9NY47-2; Sequence=VSP_028059; Name=3; IsoId=Q9NY47-3; Sequence=VSP_028059, VSP_028060; Name=4; IsoId=Q9NY47-4; Sequence=VSP_028058, VSP_028059, VSP_028060; Name=5; Synonyms=Alpha2delta-2c; IsoId=Q9NY47-5; Sequence=VSP_028060; # AltName CA2D2_HUMAN Voltage-gated calcium channel subunit alpha-2/delta-2 # AltName CA2D2_HUMAN Voltage-gated calcium channel subunit alpha-2/delta-2 # BioGrid 114678 15 # CCDS CCDS33763 -. [Q9NY47-2] # CCDS CCDS54588 -. [Q9NY47-1] # CCDS CCDS63647 -. [Q9NY47-3] # CCDS CCDS77748 -. [Q9NY47-4] # ChiTaRS CACNA2D2 human # DOMAIN CA2D2_HUMAN The MIDAS-like motif in the VWFA domain binds divalent metal cations and is required to promote trafficking of the alpha- 1 (CACNA1) subunit to the plasma membrane by an integrin-like switch. {ECO 0000250}. # DrugBank DB00270 Isradipine # DrugBank DB00421 Spironolactone # DrugBank DB00996 Gabapentin # DrugBank DB01023 Felodipine # DrugBank DB01054 Nitrendipine # DrugBank DB01118 Amiodarone # DrugBank DB01244 Bepridil # Ensembl ENST00000266039 ENSP00000266039; ENSG00000007402. [Q9NY47-3] # Ensembl ENST00000360963 ENSP00000354228; ENSG00000007402. [Q9NY47-4] # Ensembl ENST00000424201 ENSP00000390329; ENSG00000007402. [Q9NY47-2] # Ensembl ENST00000479441 ENSP00000418081; ENSG00000007402. [Q9NY47-1] # ExpressionAtlas Q9NY47 baseline and differential # FUNCTION CA2D2_HUMAN The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel. Acts as a regulatory subunit for P/Q-type calcium channel (CACNA1A), N-type (CACNA1B), L-type (CACNA1C OR CACNA1D) and possibly T-type (CACNA1G). Overexpression induces apoptosis. {ECO 0000269|PubMed 12555074, ECO 0000269|PubMed 15111129}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005891 voltage-gated calcium channel complex; IEA:Ensembl. # GO_function GO:0005245 voltage-gated calcium channel activity; TAS:Reactome. # GO_function GO:0046872 metal ion binding; IEA:UniProtKB-KW. # GO_process GO:0007528 neuromuscular junction development; IEA:Ensembl. # GO_process GO:0040014 regulation of multicellular organism growth; IEA:Ensembl. # GO_process GO:0046622 positive regulation of organ growth; IEA:Ensembl. # GO_process GO:0048747 muscle fiber development; IEA:Ensembl. # GO_process GO:0050796 regulation of insulin secretion; TAS:Reactome. # GO_process GO:0060024 rhythmic synaptic transmission; IEA:Ensembl. # GO_process GO:0061337 cardiac conduction; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0008150 biological_process # GOslim_process GO:0048856 anatomical structure development # Gene3D 3.40.50.410 -; 1. # Genevisible Q9NY47 HS # HGNC HGNC:1400 CACNA2D2 # InterPro IPR002035 VWF_A # InterPro IPR013608 VWA_N # InterPro IPR013680 VDCC_a2/dsu # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04010 MAPK signaling pathway # KEGG_Pathway ko04260 Cardiac muscle contraction # KEGG_Pathway ko05410 Hypertrophic cardiomyopathy (HCM) # KEGG_Pathway ko05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC) # KEGG_Pathway ko05414 Dilated cardiomyopathy # MIM 607082 gene # MISCELLANEOUS CA2D2_HUMAN Binds gabapentin, an antiepileptic drug. # Organism CA2D2_HUMAN Homo sapiens (Human) # PROSITE PS50234 VWFA # PTM CA2D2_HUMAN May be proteolytically processed into subunits alpha-2-2 and delta-2 that are disulfide-linked. It is however unclear whether such cleavage really takes place in vivo and has a functional role (By similarity). {ECO 0000250}. # Pfam PF00092 VWA # Pfam PF08399 VWA_N # Pfam PF08473 VGCC_alpha2 # Proteomes UP000005640 Chromosome 3 # Reactome R-HSA-112308 Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels # Reactome R-HSA-400042 Adrenaline,noradrenaline inhibits insulin secretion # Reactome R-HSA-422356 Regulation of insulin secretion # Reactome R-HSA-5576892 Phase 0 - rapid depolarisation # Reactome R-HSA-5576893 Phase 2 - plateau phase # Reactome R-HSA-5576894 Phase 1 - inactivation of fast Na+ channels # RecName CA2D2_HUMAN Voltage-dependent calcium channel subunit alpha-2-2 # RecName CA2D2_HUMAN Voltage-dependent calcium channel subunit alpha-2-2 # RecName CA2D2_HUMAN Voltage-dependent calcium channel subunit alpha-2/delta-2 # RecName CA2D2_HUMAN Voltage-dependent calcium channel subunit delta-2 # RefSeq NP_001005505 NM_001005505.2. [Q9NY47-3] # RefSeq NP_001167522 NM_001174051.2. [Q9NY47-1] # RefSeq NP_001278030 NM_001291101.1. [Q9NY47-4] # RefSeq NP_006021 NM_006030.3. [Q9NY47-2] # SIMILARITY Belongs to the calcium channel subunit alpha-2/delta family. {ECO 0000305}. # SIMILARITY Contains 1 VWFA domain. {ECO:0000255|PROSITE- ProRule PRU00219}. # SIMILARITY Contains 1 cache domain. {ECO 0000305}. # SMART SM00327 VWA # SUBCELLULAR LOCATION CA2D2_HUMAN Membrane {ECO 0000305}; Single-pass type I membrane protein {ECO 0000305}. Note=Colocalizes with CACNA1A in lipid raft fractions. {ECO 0000250}. # SUBUNIT CA2D2_HUMAN Dimer formed of alpha-2-2 and delta-2 chains; disulfide- linked. Voltage-dependent calcium channels are multisubunit complexes, consisting of alpha-1 (CACNA1), alpha-2 (CACNA2D), beta (CACNB) and delta (CACNA2D) subunits in a 1 1 1 1 ratio (By similarity). {ECO 0000250}. # SUPFAM SSF53300 SSF53300 # TCDB 8.A.18.2 the ca(2+) channel auxiliary subunit Alpha2Delta types 1-4 (cca-Alpha2Delta) family # TISSUE SPECIFICITY CA2D2_HUMAN Predominantly present in cerebellar cortex. Present in various lung tumor cell lines, while it is absent in normal lung (at protein level). Highly expressed in heart, lung, testis, pancreas and skeletal muscle. Also expressed in kidney, liver, placenta and brain. {ECO 0000269|PubMed 10766861, ECO 0000269|PubMed 11687876, ECO 0000269|PubMed 9880589}. # UCSC uc003dap human. [Q9NY47-1] # eggNOG ENOG410XPDX LUCA # eggNOG KOG2353 Eukaryota BLAST swissprot:CA2D2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CA2D2_HUMAN COXPRESdb 9254 http://coxpresdb.jp/data/gene/9254.shtml CleanEx HS_CACNA2D2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CACNA2D2 DOI 10.1007/s00232-001-0072-7 http://dx.doi.org/10.1007/s00232-001-0072-7 DOI 10.1016/j.abb.2004.03.010 http://dx.doi.org/10.1016/j.abb.2004.03.010 DOI 10.1023/B:JOBB.0000008028.41056.58 http://dx.doi.org/10.1023/B:JOBB.0000008028.41056.58 DOI 10.1038/nature04728 http://dx.doi.org/10.1038/nature04728 DOI 10.1038/nbt.1532 http://dx.doi.org/10.1038/nbt.1532 DOI 10.1038/sj.onc.1206134 http://dx.doi.org/10.1038/sj.onc.1206134 DOI 10.1046/j.1460-9568.2000.01009.x http://dx.doi.org/10.1046/j.1460-9568.2000.01009.x DOI 10.1074/jbc.275.16.12237 http://dx.doi.org/10.1074/jbc.275.16.12237 DOI 10.1093/dnares/5.1.31 http://dx.doi.org/10.1093/dnares/5.1.31 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DrugBank DB00270 http://www.drugbank.ca/drugs/DB00270 DrugBank DB00421 http://www.drugbank.ca/drugs/DB00421 DrugBank DB00996 http://www.drugbank.ca/drugs/DB00996 DrugBank DB01023 http://www.drugbank.ca/drugs/DB01023 DrugBank DB01054 http://www.drugbank.ca/drugs/DB01054 DrugBank DB01118 http://www.drugbank.ca/drugs/DB01118 DrugBank DB01244 http://www.drugbank.ca/drugs/DB01244 EMBL AB011130 http://www.ebi.ac.uk/ena/data/view/AB011130 EMBL AF040709 http://www.ebi.ac.uk/ena/data/view/AF040709 EMBL AF042792 http://www.ebi.ac.uk/ena/data/view/AF042792 EMBL AF042793 http://www.ebi.ac.uk/ena/data/view/AF042793 EMBL AJ251367 http://www.ebi.ac.uk/ena/data/view/AJ251367 EMBL AJ251368 http://www.ebi.ac.uk/ena/data/view/AJ251368 EMBL AL450422 http://www.ebi.ac.uk/ena/data/view/AL450422 EMBL BC152438 http://www.ebi.ac.uk/ena/data/view/BC152438 EMBL CH471055 http://www.ebi.ac.uk/ena/data/view/CH471055 EMBL Z75742 http://www.ebi.ac.uk/ena/data/view/Z75742 EMBL Z75743 http://www.ebi.ac.uk/ena/data/view/Z75743 EMBL Z84492 http://www.ebi.ac.uk/ena/data/view/Z84492 EMBL Z84494 http://www.ebi.ac.uk/ena/data/view/Z84494 EMBL Z84495 http://www.ebi.ac.uk/ena/data/view/Z84495 Ensembl ENST00000266039 http://www.ensembl.org/id/ENST00000266039 Ensembl ENST00000360963 http://www.ensembl.org/id/ENST00000360963 Ensembl ENST00000424201 http://www.ensembl.org/id/ENST00000424201 Ensembl ENST00000479441 http://www.ensembl.org/id/ENST00000479441 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005891 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005891 GO_function GO:0005245 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005245 GO_function GO:0046872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046872 GO_process GO:0007528 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007528 GO_process GO:0040014 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0040014 GO_process GO:0046622 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046622 GO_process GO:0048747 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048747 GO_process GO:0050796 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050796 GO_process GO:0060024 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060024 GO_process GO:0061337 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061337 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 Gene3D 3.40.50.410 http://www.cathdb.info/version/latest/superfamily/3.40.50.410 GeneCards CACNA2D2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CACNA2D2 GeneID 9254 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=9254 GeneTree ENSGT00530000062904 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000062904 HGNC HGNC:1400 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:1400 HOGENOM HOG000004860 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000004860&db=HOGENOM6 HOVERGEN HBG057779 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG057779&db=HOVERGEN HPA HPA034771 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA034771 InParanoid Q9NY47 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9NY47 IntAct Q9NY47 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9NY47* InterPro IPR002035 http://www.ebi.ac.uk/interpro/entry/IPR002035 InterPro IPR013608 http://www.ebi.ac.uk/interpro/entry/IPR013608 InterPro IPR013680 http://www.ebi.ac.uk/interpro/entry/IPR013680 Jabion 9254 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=9254 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:9254 http://www.genome.jp/dbget-bin/www_bget?hsa:9254 KEGG_Orthology KO:K04859 http://www.genome.jp/dbget-bin/www_bget?KO:K04859 KEGG_Pathway ko04010 http://www.genome.jp/kegg-bin/show_pathway?ko04010 KEGG_Pathway ko04260 http://www.genome.jp/kegg-bin/show_pathway?ko04260 KEGG_Pathway ko05410 http://www.genome.jp/kegg-bin/show_pathway?ko05410 KEGG_Pathway ko05412 http://www.genome.jp/kegg-bin/show_pathway?ko05412 KEGG_Pathway ko05414 http://www.genome.jp/kegg-bin/show_pathway?ko05414 MIM 607082 http://www.ncbi.nlm.nih.gov/omim/607082 PROSITE PS50234 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50234 PSORT swissprot:CA2D2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CA2D2_HUMAN PSORT-B swissprot:CA2D2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CA2D2_HUMAN PSORT2 swissprot:CA2D2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CA2D2_HUMAN Pfam PF00092 http://pfam.xfam.org/family/PF00092 Pfam PF08399 http://pfam.xfam.org/family/PF08399 Pfam PF08473 http://pfam.xfam.org/family/PF08473 PharmGKB PA26012 http://www.pharmgkb.org/do/serve?objId=PA26012&objCls=Gene Phobius swissprot:CA2D2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CA2D2_HUMAN ProteinModelPortal Q9NY47 http://www.proteinmodelportal.org/query/uniprot/Q9NY47 PubMed 10762351 http://www.ncbi.nlm.nih.gov/pubmed/10762351 PubMed 10766861 http://www.ncbi.nlm.nih.gov/pubmed/10766861 PubMed 11687876 http://www.ncbi.nlm.nih.gov/pubmed/11687876 PubMed 12555074 http://www.ncbi.nlm.nih.gov/pubmed/12555074 PubMed 15000524 http://www.ncbi.nlm.nih.gov/pubmed/15000524 PubMed 15111129 http://www.ncbi.nlm.nih.gov/pubmed/15111129 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16641997 http://www.ncbi.nlm.nih.gov/pubmed/16641997 PubMed 19349973 http://www.ncbi.nlm.nih.gov/pubmed/19349973 PubMed 9628581 http://www.ncbi.nlm.nih.gov/pubmed/9628581 PubMed 9880589 http://www.ncbi.nlm.nih.gov/pubmed/9880589 Reactome R-HSA-112308 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-112308 Reactome R-HSA-400042 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-400042 Reactome R-HSA-422356 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-422356 Reactome R-HSA-5576892 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576892 Reactome R-HSA-5576893 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576893 Reactome R-HSA-5576894 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576894 RefSeq NP_001005505 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001005505 RefSeq NP_001167522 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001167522 RefSeq NP_001278030 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001278030 RefSeq NP_006021 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_006021 SMART SM00327 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00327 STRING 9606.ENSP00000418081 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000418081&targetmode=cogs SUPFAM SSF53300 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF53300 TCDB 8.A.18.2 http://www.tcdb.org/search/result.php?tc=8.A.18.2 UCSC uc003dap http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003dap&org=rat UniGene Hs.476273 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.476273 UniGene Hs.674666 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.674666 UniProtKB CA2D2_HUMAN http://www.uniprot.org/uniprot/CA2D2_HUMAN UniProtKB-AC Q9NY47 http://www.uniprot.org/uniprot/Q9NY47 charge swissprot:CA2D2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CA2D2_HUMAN eggNOG ENOG410XPDX http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XPDX eggNOG KOG2353 http://eggnogapi.embl.de/nog_data/html/tree/KOG2353 epestfind swissprot:CA2D2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CA2D2_HUMAN garnier swissprot:CA2D2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CA2D2_HUMAN helixturnhelix swissprot:CA2D2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CA2D2_HUMAN hmoment swissprot:CA2D2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CA2D2_HUMAN iep swissprot:CA2D2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CA2D2_HUMAN inforesidue swissprot:CA2D2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CA2D2_HUMAN neXtProt NX_Q9NY47 http://www.nextprot.org/db/entry/NX_Q9NY47 octanol swissprot:CA2D2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CA2D2_HUMAN pepcoil swissprot:CA2D2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CA2D2_HUMAN pepdigest swissprot:CA2D2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CA2D2_HUMAN pepinfo swissprot:CA2D2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CA2D2_HUMAN pepnet swissprot:CA2D2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CA2D2_HUMAN pepstats swissprot:CA2D2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CA2D2_HUMAN pepwheel swissprot:CA2D2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CA2D2_HUMAN pepwindow swissprot:CA2D2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CA2D2_HUMAN sigcleave swissprot:CA2D2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CA2D2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9Y6N1-1; Sequence=Displayed; Name=2; IsoId=Q9Y6N1-2; Sequence=VSP_046360; Note=No experimental confirmation available. Ref.4 (BI600359) sequence is in conflict in position: 223 V->G. {ECO:0000305}; # BioGrid 107746 10 # CCDS CCDS11583 -. [Q9Y6N1-1] # CCDS CCDS58579 -. [Q9Y6N1-2] # Ensembl ENST00000299335 ENSP00000299335; ENSG00000166260. [Q9Y6N1-1] # Ensembl ENST00000572558 ENSP00000459302; ENSG00000166260. [Q9Y6N1-2] # Ensembl ENST00000576370 ENSP00000459901; ENSG00000166260. [Q9Y6N1-1] # ExpressionAtlas Q9Y6N1 baseline and differential # FUNCTION COX11_HUMAN Exerts its effect at some terminal stage of cytochrome c oxidase synthesis, probably by being involved in the insertion of the copper B into subunit I. {ECO 0000250}. # GO_component GO:0005739 mitochondrion; TAS:ProtInc. # GO_component GO:0005743 mitochondrial inner membrane; IEA:UniProtKB-SubCell. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0004129 cytochrome-c oxidase activity; TAS:ProtInc. # GO_function GO:0005507 copper ion binding; IBA:GO_Central. # GO_function GO:0009055 electron carrier activity; TAS:UniProtKB. # GO_process GO:0007585 respiratory gaseous exchange; TAS:ProtInc. # GO_process GO:0008535 respiratory chain complex IV assembly; TAS:ProtInc. # GO_process GO:0009060 aerobic respiration; IBA:GO_Central. # GO_process GO:0033132 negative regulation of glucokinase activity; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005739 mitochondrion # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0016491 oxidoreductase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006091 generation of precursor metabolites and energy # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0008150 biological_process # Gene3D 2.60.370.10 -; 1. # Genevisible Q9Y6N1 HS # HAMAP MF_00155 CtaG # HGNC HGNC:2261 COX11 # IntAct Q9Y6N1 10 # InterPro IPR007533 Cyt_c_oxidase_assmbl_CtaG # InterPro IPR023471 CtaG/Cox11_dom # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Pathway ko00190 Oxidative phosphorylation # MIM 603648 gene # Organism COX11_HUMAN Homo sapiens (Human) # PANTHER PTHR21320 PTHR21320 # Pfam PF04442 CtaG_Cox11 # Proteomes UP000005640 Chromosome 17 # Reactome R-HSA-5628897 TP53 Regulates Metabolic Genes # Reactome R-HSA-611105 Respiratory electron transport # RecName COX11_HUMAN Cytochrome c oxidase assembly protein COX11, mitochondrial # RefSeq NP_004366 NM_004375.4. [Q9Y6N1-1] # RefSeq XP_011522644 XM_011524342.2. [Q9Y6N1-1] # RefSeq XP_016879681 XM_017024192.1. [Q9Y6N1-1] # RefSeq XP_016879682 XM_017024193.1. [Q9Y6N1-1] # RefSeq XP_016879683 XM_017024194.1. [Q9Y6N1-2] # RefSeq XP_016879684 XM_017024195.1. [Q9Y6N1-2] # RefSeq XP_016879685 XM_017024196.1. [Q9Y6N1-2] # SIMILARITY Belongs to the COX11/CtaG family. {ECO 0000305}. # SUBCELLULAR LOCATION COX11_HUMAN Mitochondrion inner membrane {ECO 0000269|PubMed 9878253}; Single-pass membrane protein {ECO 0000269|PubMed 9878253}; Intermembrane side {ECO 0000269|PubMed 9878253}. # SUBUNIT Interacts with CNNM4/ACDP4. {ECO:0000269|PubMed 15840172}. # SUPFAM SSF110111 SSF110111 # TISSUE SPECIFICITY Ubiquitous. {ECO:0000269|PubMed 9878253}. # UCSC uc010wng human. [Q9Y6N1-1] # eggNOG COG3175 LUCA # eggNOG KOG2540 Eukaryota BLAST swissprot:COX11_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:COX11_HUMAN BioCyc ZFISH:ENSG00000166260-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000166260-MONOMER COG COG3175 http://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=COG3175 COXPRESdb 1353 http://coxpresdb.jp/data/gene/1353.shtml CleanEx HS_COX11 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_COX11 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1006/geno.1998.5580 http://dx.doi.org/10.1006/geno.1998.5580 DOI 10.1038/nature04689 http://dx.doi.org/10.1038/nature04689 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1744-8069-1-15 http://dx.doi.org/10.1186/1744-8069-1-15 EMBL AC007485 http://www.ebi.ac.uk/ena/data/view/AC007485 EMBL AC090824 http://www.ebi.ac.uk/ena/data/view/AC090824 EMBL AF044321 http://www.ebi.ac.uk/ena/data/view/AF044321 EMBL BC005895 http://www.ebi.ac.uk/ena/data/view/BC005895 EMBL BI600359 http://www.ebi.ac.uk/ena/data/view/BI600359 EMBL CH471109 http://www.ebi.ac.uk/ena/data/view/CH471109 EMBL CH471109 http://www.ebi.ac.uk/ena/data/view/CH471109 EMBL CR541837 http://www.ebi.ac.uk/ena/data/view/CR541837 EMBL U79270 http://www.ebi.ac.uk/ena/data/view/U79270 Ensembl ENST00000299335 http://www.ensembl.org/id/ENST00000299335 Ensembl ENST00000572558 http://www.ensembl.org/id/ENST00000572558 Ensembl ENST00000576370 http://www.ensembl.org/id/ENST00000576370 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0004129 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004129 GO_function GO:0005507 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005507 GO_function GO:0009055 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009055 GO_process GO:0007585 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007585 GO_process GO:0008535 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008535 GO_process GO:0009060 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009060 GO_process GO:0033132 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033132 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0016491 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016491 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006091 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 Gene3D 2.60.370.10 http://www.cathdb.info/version/latest/superfamily/2.60.370.10 GeneCards COX11 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=COX11 GeneID 1353 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=1353 GeneTree ENSGT00390000007512 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000007512 HAMAP MF_00155 http://hamap.expasy.org/unirule/MF_00155 HGNC HGNC:2261 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:2261 HOGENOM HOG000264965 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000264965&db=HOGENOM6 HOVERGEN HBG051085 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG051085&db=HOVERGEN HPA HPA044020 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA044020 InParanoid Q9Y6N1 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9Y6N1 IntAct Q9Y6N1 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9Y6N1* InterPro IPR007533 http://www.ebi.ac.uk/interpro/entry/IPR007533 InterPro IPR023471 http://www.ebi.ac.uk/interpro/entry/IPR023471 Jabion 1353 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=1353 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00002 http://www.genome.jp/dbget-bin/www_bget?ko00002 KEGG_Gene hsa:1353 http://www.genome.jp/dbget-bin/www_bget?hsa:1353 KEGG_Orthology KO:K02258 http://www.genome.jp/dbget-bin/www_bget?KO:K02258 KEGG_Pathway ko00190 http://www.genome.jp/kegg-bin/show_pathway?ko00190 MIM 603648 http://www.ncbi.nlm.nih.gov/omim/603648 OMA RMARVDT http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=RMARVDT OrthoDB EOG091G0J14 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0J14 PANTHER PTHR21320 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR21320 PSORT swissprot:COX11_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:COX11_HUMAN PSORT-B swissprot:COX11_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:COX11_HUMAN PSORT2 swissprot:COX11_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:COX11_HUMAN Pfam PF04442 http://pfam.xfam.org/family/PF04442 PharmGKB PA26777 http://www.pharmgkb.org/do/serve?objId=PA26777&objCls=Gene Phobius swissprot:COX11_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:COX11_HUMAN PhylomeDB Q9Y6N1 http://phylomedb.org/?seqid=Q9Y6N1 ProteinModelPortal Q9Y6N1 http://www.proteinmodelportal.org/query/uniprot/Q9Y6N1 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15840172 http://www.ncbi.nlm.nih.gov/pubmed/15840172 PubMed 16625196 http://www.ncbi.nlm.nih.gov/pubmed/16625196 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 9110174 http://www.ncbi.nlm.nih.gov/pubmed/9110174 PubMed 9878253 http://www.ncbi.nlm.nih.gov/pubmed/9878253 Reactome R-HSA-5628897 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5628897 Reactome R-HSA-611105 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-611105 RefSeq NP_004366 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004366 RefSeq XP_011522644 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011522644 RefSeq XP_016879681 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016879681 RefSeq XP_016879682 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016879682 RefSeq XP_016879683 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016879683 RefSeq XP_016879684 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016879684 RefSeq XP_016879685 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016879685 STRING 9606.ENSP00000299335 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000299335&targetmode=cogs STRING COG3175 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=COG3175&targetmode=cogs SUPFAM SSF110111 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF110111 UCSC uc010wng http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc010wng&org=rat UniGene Hs.591171 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.591171 UniGene Hs.657992 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.657992 UniProtKB COX11_HUMAN http://www.uniprot.org/uniprot/COX11_HUMAN UniProtKB-AC Q9Y6N1 http://www.uniprot.org/uniprot/Q9Y6N1 charge swissprot:COX11_HUMAN http://rest.g-language.org/emboss/charge/swissprot:COX11_HUMAN eggNOG COG3175 http://eggnogapi.embl.de/nog_data/html/tree/COG3175 eggNOG KOG2540 http://eggnogapi.embl.de/nog_data/html/tree/KOG2540 epestfind swissprot:COX11_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:COX11_HUMAN garnier swissprot:COX11_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:COX11_HUMAN helixturnhelix swissprot:COX11_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:COX11_HUMAN hmoment swissprot:COX11_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:COX11_HUMAN iep swissprot:COX11_HUMAN http://rest.g-language.org/emboss/iep/swissprot:COX11_HUMAN inforesidue swissprot:COX11_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:COX11_HUMAN neXtProt NX_Q9Y6N1 http://www.nextprot.org/db/entry/NX_Q9Y6N1 octanol swissprot:COX11_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:COX11_HUMAN pepcoil swissprot:COX11_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:COX11_HUMAN pepdigest swissprot:COX11_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:COX11_HUMAN pepinfo swissprot:COX11_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:COX11_HUMAN pepnet swissprot:COX11_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:COX11_HUMAN pepstats swissprot:COX11_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:COX11_HUMAN pepwheel swissprot:COX11_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:COX11_HUMAN pepwindow swissprot:COX11_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:COX11_HUMAN sigcleave swissprot:COX11_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:COX11_HUMAN ## Database ID URL or Descriptions # AltName ARY2_HUMAN Arylamide acetylase 2 # AltName ARY2_HUMAN N-acetyltransferase type 2 # AltName ARY2_HUMAN Polymorphic arylamine N-acetyltransferase # BRENDA 2.3.1 2681 # BioGrid 106528 20 # CATALYTIC ACTIVITY ARY2_HUMAN Acetyl-CoA + an arylamine = CoA + an N- acetylarylamine. # DrugBank DB00250 Dapsone # DrugBank DB00316 Acetaminophen # DrugBank DB00951 Isoniazid # DrugBank DB01015 Sulfamethoxazole # DrugBank DB01068 Clonazepam # DrugBank DB04953 Ezogabine # Ensembl ENST00000286479 ENSP00000286479; ENSG00000156006 # ExpressionAtlas P11245 baseline and differential # FUNCTION ARY2_HUMAN Participates in the detoxification of a plethora of hydrazine and arylamine drugs. Catalyzes the N- or O-acetylation of various arylamine and heterocyclic amine substrates and is able to bioactivate several known carcinogens. # GO_component GO:0005829 cytosol; TAS:Reactome. # GO_component GO:0005886 plasma membrane; IEA:Ensembl. # GO_function GO:0004060 arylamine N-acetyltransferase activity; TAS:Reactome. # GO_function GO:0015179 L-amino acid transmembrane transporter activity; IEA:Ensembl. # GO_process GO:0006805 xenobiotic metabolic process; TAS:Reactome. # GOslim_component GO:0005829 cytosol # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0016746 transferase activity, transferring acyl groups # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0008150 biological_process # Genevisible P11245 HS # HGNC HGNC:7646 NAT2 # INTERACTION ARY2_HUMAN Q13315 ATM; NbExp=2; IntAct=EBI-9057228, EBI-495465; Q06609 RAD51; NbExp=4; IntAct=EBI-9057228, EBI-297202; # IntAct P11245 16 # InterPro IPR001447 Arylamine_N-AcTrfase # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko01000 Enzymes # KEGG_Pathway ko00232 Caffeine metabolism # KEGG_Pathway ko00633 Nitrotoluene degradation # KEGG_Pathway ko00983 Drug metabolism - other enzymes # KEGG_Pathway ko05204 Chemical carcinogenesis # MIM 243400 phenotype # MIM 612182 gene # Organism ARY2_HUMAN Homo sapiens (Human) # Orphanet 240887 Isoniazid toxicity # PANTHER PTHR11786 PTHR11786 # PDB 2PFR X-ray; 1.92 A; A/B=2-290 # PIR B34585 B34585 # PIR S02788 S02788 # POLYMORPHISM Polymorphisms in NAT2 are the cause of slow and fast acetylation phenotypes [MIM:243400] and influence drug therapy response and susceptibility to chemical toxicity or carcinogenicity. {ECO 0000269|PubMed:16416399}. # PRINTS PR01543 ANATRNSFRASE # Pfam PF00797 Acetyltransf_2 # Proteomes UP000005640 Chromosome 8 # Reactome R-HSA-156582 Acetylation # RecName ARY2_HUMAN Arylamine N-acetyltransferase 2 # RefSeq NP_000006 NM_000015.2 # RefSeq XP_016868427 XM_017012938.1 # SEQUENCE CAUTION Sequence=AAK51711.1; Type=Frameshift; Positions=287; Evidence={ECO 0000305}; # SIMILARITY Belongs to the arylamine N-acetyltransferase family. {ECO 0000305}. # SUBCELLULAR LOCATION ARY2_HUMAN Cytoplasm. # UCSC uc003wyw human # WEB RESOURCE ARY2_HUMAN Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http //atlasgeneticsoncology.org/Genes/NAT2ID41498ch8p22.html"; # WEB RESOURCE ARY2_HUMAN Name=NAT; Note=NAT alleles; URL="http //nat.mbg.duth.gr/"; # WEB RESOURCE ARY2_HUMAN Name=NIEHS-SNPs; URL="http //egp.gs.washington.edu/data/nat2/"; # WEB RESOURCE ARY2_HUMAN Name=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="http //shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=NAT2"; # eggNOG COG2162 LUCA # eggNOG ENOG410IFD6 Eukaryota BLAST swissprot:ARY2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ARY2_HUMAN BioCyc ZFISH:HS08090-MONOMER http://biocyc.org/getid?id=ZFISH:HS08090-MONOMER COG COG2162 http://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=COG2162 COXPRESdb 10 http://coxpresdb.jp/data/gene/10.shtml CleanEx HS_NAT2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_NAT2 DOI 10.1006/bbrc.1993.1289 http://dx.doi.org/10.1006/bbrc.1993.1289 DOI 10.1016/0006-291X(91)90676-X http://dx.doi.org/10.1016/0006-291X(91)90676-X DOI 10.1016/0014-5793(89)81193-7 http://dx.doi.org/10.1016/0014-5793(89)81193-7 DOI 10.1038/nature04406 http://dx.doi.org/10.1038/nature04406 DOI 10.1073/pnas.88.14.6333 http://dx.doi.org/10.1073/pnas.88.14.6333 DOI 10.1074/jbc.M704138200 http://dx.doi.org/10.1074/jbc.M704138200 DOI 10.1086/500614 http://dx.doi.org/10.1086/500614 DOI 10.1089/dna.1990.9.193 http://dx.doi.org/10.1089/dna.1990.9.193 DOI 10.1093/nar/17.10.3978 http://dx.doi.org/10.1093/nar/17.10.3978 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DrugBank DB00250 http://www.drugbank.ca/drugs/DB00250 DrugBank DB00316 http://www.drugbank.ca/drugs/DB00316 DrugBank DB00951 http://www.drugbank.ca/drugs/DB00951 DrugBank DB01015 http://www.drugbank.ca/drugs/DB01015 DrugBank DB01068 http://www.drugbank.ca/drugs/DB01068 DrugBank DB04953 http://www.drugbank.ca/drugs/DB04953 EC_number EC:2.3.1.5 http://www.genome.jp/dbget-bin/www_bget?EC:2.3.1.5 EMBL AC025062 http://www.ebi.ac.uk/ena/data/view/AC025062 EMBL AC120051 http://www.ebi.ac.uk/ena/data/view/AC120051 EMBL AF042740 http://www.ebi.ac.uk/ena/data/view/AF042740 EMBL AF055874 http://www.ebi.ac.uk/ena/data/view/AF055874 EMBL AF055875 http://www.ebi.ac.uk/ena/data/view/AF055875 EMBL AF320309 http://www.ebi.ac.uk/ena/data/view/AF320309 EMBL AF348074 http://www.ebi.ac.uk/ena/data/view/AF348074 EMBL AF348075 http://www.ebi.ac.uk/ena/data/view/AF348075 EMBL AY230251 http://www.ebi.ac.uk/ena/data/view/AY230251 EMBL AY230252 http://www.ebi.ac.uk/ena/data/view/AY230252 EMBL AY331807 http://www.ebi.ac.uk/ena/data/view/AY331807 EMBL BC015878 http://www.ebi.ac.uk/ena/data/view/BC015878 EMBL BC067218 http://www.ebi.ac.uk/ena/data/view/BC067218 EMBL CR407631 http://www.ebi.ac.uk/ena/data/view/CR407631 EMBL D10870 http://www.ebi.ac.uk/ena/data/view/D10870 EMBL D10871 http://www.ebi.ac.uk/ena/data/view/D10871 EMBL D10872 http://www.ebi.ac.uk/ena/data/view/D10872 EMBL D90040 http://www.ebi.ac.uk/ena/data/view/D90040 EMBL D90042 http://www.ebi.ac.uk/ena/data/view/D90042 EMBL DQ305496 http://www.ebi.ac.uk/ena/data/view/DQ305496 EMBL DQ305497 http://www.ebi.ac.uk/ena/data/view/DQ305497 EMBL DQ305498 http://www.ebi.ac.uk/ena/data/view/DQ305498 EMBL DQ305499 http://www.ebi.ac.uk/ena/data/view/DQ305499 EMBL DQ305500 http://www.ebi.ac.uk/ena/data/view/DQ305500 EMBL DQ305501 http://www.ebi.ac.uk/ena/data/view/DQ305501 EMBL DQ305502 http://www.ebi.ac.uk/ena/data/view/DQ305502 EMBL DQ305503 http://www.ebi.ac.uk/ena/data/view/DQ305503 EMBL DQ305504 http://www.ebi.ac.uk/ena/data/view/DQ305504 EMBL DQ305505 http://www.ebi.ac.uk/ena/data/view/DQ305505 EMBL DQ305506 http://www.ebi.ac.uk/ena/data/view/DQ305506 EMBL DQ305507 http://www.ebi.ac.uk/ena/data/view/DQ305507 EMBL DQ305508 http://www.ebi.ac.uk/ena/data/view/DQ305508 EMBL DQ305509 http://www.ebi.ac.uk/ena/data/view/DQ305509 EMBL DQ305510 http://www.ebi.ac.uk/ena/data/view/DQ305510 EMBL DQ305511 http://www.ebi.ac.uk/ena/data/view/DQ305511 EMBL DQ305512 http://www.ebi.ac.uk/ena/data/view/DQ305512 EMBL DQ305513 http://www.ebi.ac.uk/ena/data/view/DQ305513 EMBL DQ305514 http://www.ebi.ac.uk/ena/data/view/DQ305514 EMBL DQ305515 http://www.ebi.ac.uk/ena/data/view/DQ305515 EMBL DQ305516 http://www.ebi.ac.uk/ena/data/view/DQ305516 EMBL DQ305517 http://www.ebi.ac.uk/ena/data/view/DQ305517 EMBL DQ305518 http://www.ebi.ac.uk/ena/data/view/DQ305518 EMBL DQ305519 http://www.ebi.ac.uk/ena/data/view/DQ305519 EMBL DQ305520 http://www.ebi.ac.uk/ena/data/view/DQ305520 EMBL DQ305521 http://www.ebi.ac.uk/ena/data/view/DQ305521 EMBL DQ305522 http://www.ebi.ac.uk/ena/data/view/DQ305522 EMBL DQ305523 http://www.ebi.ac.uk/ena/data/view/DQ305523 EMBL DQ305524 http://www.ebi.ac.uk/ena/data/view/DQ305524 EMBL DQ305525 http://www.ebi.ac.uk/ena/data/view/DQ305525 EMBL DQ305526 http://www.ebi.ac.uk/ena/data/view/DQ305526 EMBL DQ305527 http://www.ebi.ac.uk/ena/data/view/DQ305527 EMBL DQ305528 http://www.ebi.ac.uk/ena/data/view/DQ305528 EMBL DQ305529 http://www.ebi.ac.uk/ena/data/view/DQ305529 EMBL DQ305530 http://www.ebi.ac.uk/ena/data/view/DQ305530 EMBL DQ305531 http://www.ebi.ac.uk/ena/data/view/DQ305531 EMBL DQ305532 http://www.ebi.ac.uk/ena/data/view/DQ305532 EMBL DQ305533 http://www.ebi.ac.uk/ena/data/view/DQ305533 EMBL DQ305534 http://www.ebi.ac.uk/ena/data/view/DQ305534 EMBL DQ305535 http://www.ebi.ac.uk/ena/data/view/DQ305535 EMBL DQ305536 http://www.ebi.ac.uk/ena/data/view/DQ305536 EMBL DQ305537 http://www.ebi.ac.uk/ena/data/view/DQ305537 EMBL DQ305538 http://www.ebi.ac.uk/ena/data/view/DQ305538 EMBL DQ305539 http://www.ebi.ac.uk/ena/data/view/DQ305539 EMBL DQ305540 http://www.ebi.ac.uk/ena/data/view/DQ305540 EMBL DQ305541 http://www.ebi.ac.uk/ena/data/view/DQ305541 EMBL DQ305542 http://www.ebi.ac.uk/ena/data/view/DQ305542 EMBL DQ305543 http://www.ebi.ac.uk/ena/data/view/DQ305543 EMBL DQ305544 http://www.ebi.ac.uk/ena/data/view/DQ305544 EMBL DQ305545 http://www.ebi.ac.uk/ena/data/view/DQ305545 EMBL DQ305546 http://www.ebi.ac.uk/ena/data/view/DQ305546 EMBL DQ305547 http://www.ebi.ac.uk/ena/data/view/DQ305547 EMBL DQ305548 http://www.ebi.ac.uk/ena/data/view/DQ305548 EMBL DQ305549 http://www.ebi.ac.uk/ena/data/view/DQ305549 EMBL DQ305550 http://www.ebi.ac.uk/ena/data/view/DQ305550 EMBL DQ305551 http://www.ebi.ac.uk/ena/data/view/DQ305551 EMBL DQ305552 http://www.ebi.ac.uk/ena/data/view/DQ305552 EMBL DQ305553 http://www.ebi.ac.uk/ena/data/view/DQ305553 EMBL DQ305554 http://www.ebi.ac.uk/ena/data/view/DQ305554 EMBL DQ305555 http://www.ebi.ac.uk/ena/data/view/DQ305555 EMBL DQ305556 http://www.ebi.ac.uk/ena/data/view/DQ305556 EMBL DQ305557 http://www.ebi.ac.uk/ena/data/view/DQ305557 EMBL DQ305558 http://www.ebi.ac.uk/ena/data/view/DQ305558 EMBL DQ305559 http://www.ebi.ac.uk/ena/data/view/DQ305559 EMBL DQ305560 http://www.ebi.ac.uk/ena/data/view/DQ305560 EMBL DQ305561 http://www.ebi.ac.uk/ena/data/view/DQ305561 EMBL DQ305562 http://www.ebi.ac.uk/ena/data/view/DQ305562 EMBL DQ305563 http://www.ebi.ac.uk/ena/data/view/DQ305563 EMBL DQ305564 http://www.ebi.ac.uk/ena/data/view/DQ305564 EMBL DQ305565 http://www.ebi.ac.uk/ena/data/view/DQ305565 EMBL DQ305566 http://www.ebi.ac.uk/ena/data/view/DQ305566 EMBL DQ305567 http://www.ebi.ac.uk/ena/data/view/DQ305567 EMBL DQ305568 http://www.ebi.ac.uk/ena/data/view/DQ305568 EMBL DQ305569 http://www.ebi.ac.uk/ena/data/view/DQ305569 EMBL DQ305570 http://www.ebi.ac.uk/ena/data/view/DQ305570 EMBL DQ305571 http://www.ebi.ac.uk/ena/data/view/DQ305571 EMBL DQ305572 http://www.ebi.ac.uk/ena/data/view/DQ305572 EMBL DQ305573 http://www.ebi.ac.uk/ena/data/view/DQ305573 EMBL DQ305574 http://www.ebi.ac.uk/ena/data/view/DQ305574 EMBL DQ305575 http://www.ebi.ac.uk/ena/data/view/DQ305575 EMBL DQ305576 http://www.ebi.ac.uk/ena/data/view/DQ305576 EMBL DQ305577 http://www.ebi.ac.uk/ena/data/view/DQ305577 EMBL DQ305578 http://www.ebi.ac.uk/ena/data/view/DQ305578 EMBL DQ305579 http://www.ebi.ac.uk/ena/data/view/DQ305579 EMBL DQ305580 http://www.ebi.ac.uk/ena/data/view/DQ305580 EMBL DQ305581 http://www.ebi.ac.uk/ena/data/view/DQ305581 EMBL DQ305582 http://www.ebi.ac.uk/ena/data/view/DQ305582 EMBL DQ305583 http://www.ebi.ac.uk/ena/data/view/DQ305583 EMBL DQ305584 http://www.ebi.ac.uk/ena/data/view/DQ305584 EMBL DQ305585 http://www.ebi.ac.uk/ena/data/view/DQ305585 EMBL DQ305586 http://www.ebi.ac.uk/ena/data/view/DQ305586 EMBL DQ305587 http://www.ebi.ac.uk/ena/data/view/DQ305587 EMBL DQ305588 http://www.ebi.ac.uk/ena/data/view/DQ305588 EMBL DQ305589 http://www.ebi.ac.uk/ena/data/view/DQ305589 EMBL DQ305590 http://www.ebi.ac.uk/ena/data/view/DQ305590 EMBL DQ305591 http://www.ebi.ac.uk/ena/data/view/DQ305591 EMBL DQ305592 http://www.ebi.ac.uk/ena/data/view/DQ305592 EMBL DQ305593 http://www.ebi.ac.uk/ena/data/view/DQ305593 EMBL DQ305594 http://www.ebi.ac.uk/ena/data/view/DQ305594 EMBL DQ305595 http://www.ebi.ac.uk/ena/data/view/DQ305595 EMBL DQ305596 http://www.ebi.ac.uk/ena/data/view/DQ305596 EMBL DQ305597 http://www.ebi.ac.uk/ena/data/view/DQ305597 EMBL DQ305598 http://www.ebi.ac.uk/ena/data/view/DQ305598 EMBL DQ305599 http://www.ebi.ac.uk/ena/data/view/DQ305599 EMBL DQ305600 http://www.ebi.ac.uk/ena/data/view/DQ305600 EMBL DQ305601 http://www.ebi.ac.uk/ena/data/view/DQ305601 EMBL DQ305602 http://www.ebi.ac.uk/ena/data/view/DQ305602 EMBL DQ305603 http://www.ebi.ac.uk/ena/data/view/DQ305603 EMBL DQ305604 http://www.ebi.ac.uk/ena/data/view/DQ305604 EMBL DQ305605 http://www.ebi.ac.uk/ena/data/view/DQ305605 EMBL DQ305606 http://www.ebi.ac.uk/ena/data/view/DQ305606 EMBL DQ305607 http://www.ebi.ac.uk/ena/data/view/DQ305607 EMBL DQ305608 http://www.ebi.ac.uk/ena/data/view/DQ305608 EMBL DQ305609 http://www.ebi.ac.uk/ena/data/view/DQ305609 EMBL DQ305610 http://www.ebi.ac.uk/ena/data/view/DQ305610 EMBL DQ305611 http://www.ebi.ac.uk/ena/data/view/DQ305611 EMBL DQ305612 http://www.ebi.ac.uk/ena/data/view/DQ305612 EMBL DQ305613 http://www.ebi.ac.uk/ena/data/view/DQ305613 EMBL DQ305614 http://www.ebi.ac.uk/ena/data/view/DQ305614 EMBL DQ305615 http://www.ebi.ac.uk/ena/data/view/DQ305615 EMBL DQ305616 http://www.ebi.ac.uk/ena/data/view/DQ305616 EMBL DQ305617 http://www.ebi.ac.uk/ena/data/view/DQ305617 EMBL DQ305618 http://www.ebi.ac.uk/ena/data/view/DQ305618 EMBL DQ305619 http://www.ebi.ac.uk/ena/data/view/DQ305619 EMBL DQ305620 http://www.ebi.ac.uk/ena/data/view/DQ305620 EMBL DQ305621 http://www.ebi.ac.uk/ena/data/view/DQ305621 EMBL DQ305622 http://www.ebi.ac.uk/ena/data/view/DQ305622 EMBL DQ305623 http://www.ebi.ac.uk/ena/data/view/DQ305623 EMBL DQ305624 http://www.ebi.ac.uk/ena/data/view/DQ305624 EMBL DQ305625 http://www.ebi.ac.uk/ena/data/view/DQ305625 EMBL DQ305626 http://www.ebi.ac.uk/ena/data/view/DQ305626 EMBL DQ305627 http://www.ebi.ac.uk/ena/data/view/DQ305627 EMBL DQ305628 http://www.ebi.ac.uk/ena/data/view/DQ305628 EMBL DQ305629 http://www.ebi.ac.uk/ena/data/view/DQ305629 EMBL DQ305630 http://www.ebi.ac.uk/ena/data/view/DQ305630 EMBL DQ305631 http://www.ebi.ac.uk/ena/data/view/DQ305631 EMBL DQ305632 http://www.ebi.ac.uk/ena/data/view/DQ305632 EMBL DQ305633 http://www.ebi.ac.uk/ena/data/view/DQ305633 EMBL DQ305634 http://www.ebi.ac.uk/ena/data/view/DQ305634 EMBL DQ305635 http://www.ebi.ac.uk/ena/data/view/DQ305635 EMBL DQ305636 http://www.ebi.ac.uk/ena/data/view/DQ305636 EMBL DQ305637 http://www.ebi.ac.uk/ena/data/view/DQ305637 EMBL DQ305638 http://www.ebi.ac.uk/ena/data/view/DQ305638 EMBL DQ305639 http://www.ebi.ac.uk/ena/data/view/DQ305639 EMBL DQ305640 http://www.ebi.ac.uk/ena/data/view/DQ305640 EMBL DQ305641 http://www.ebi.ac.uk/ena/data/view/DQ305641 EMBL DQ305642 http://www.ebi.ac.uk/ena/data/view/DQ305642 EMBL DQ305643 http://www.ebi.ac.uk/ena/data/view/DQ305643 EMBL DQ305644 http://www.ebi.ac.uk/ena/data/view/DQ305644 EMBL DQ305645 http://www.ebi.ac.uk/ena/data/view/DQ305645 EMBL DQ305646 http://www.ebi.ac.uk/ena/data/view/DQ305646 EMBL DQ305647 http://www.ebi.ac.uk/ena/data/view/DQ305647 EMBL DQ305648 http://www.ebi.ac.uk/ena/data/view/DQ305648 EMBL DQ305649 http://www.ebi.ac.uk/ena/data/view/DQ305649 EMBL DQ305650 http://www.ebi.ac.uk/ena/data/view/DQ305650 EMBL DQ305651 http://www.ebi.ac.uk/ena/data/view/DQ305651 EMBL DQ305652 http://www.ebi.ac.uk/ena/data/view/DQ305652 EMBL DQ305653 http://www.ebi.ac.uk/ena/data/view/DQ305653 EMBL DQ305654 http://www.ebi.ac.uk/ena/data/view/DQ305654 EMBL DQ305655 http://www.ebi.ac.uk/ena/data/view/DQ305655 EMBL M75163 http://www.ebi.ac.uk/ena/data/view/M75163 EMBL U23052 http://www.ebi.ac.uk/ena/data/view/U23052 EMBL U23434 http://www.ebi.ac.uk/ena/data/view/U23434 EMBL U53473 http://www.ebi.ac.uk/ena/data/view/U53473 EMBL X14672 http://www.ebi.ac.uk/ena/data/view/X14672 ENZYME 2.3.1.5 http://enzyme.expasy.org/EC/2.3.1.5 Ensembl ENST00000286479 http://www.ensembl.org/id/ENST00000286479 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_function GO:0004060 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004060 GO_function GO:0015179 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015179 GO_process GO:0006805 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006805 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0016746 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016746 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GeneCards NAT2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=NAT2 GeneID 10 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=10 HGNC HGNC:7646 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:7646 HOVERGEN HBG000165 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG000165&db=HOVERGEN HPA HPA043704 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA043704 InParanoid P11245 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P11245 IntAct P11245 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P11245* IntEnz 2.3.1.5 http://www.ebi.ac.uk/intenz/query?cmd=Search&q=2.3.1.5 InterPro IPR001447 http://www.ebi.ac.uk/interpro/entry/IPR001447 Jabion 10 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=10 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Gene hsa:10 http://www.genome.jp/dbget-bin/www_bget?hsa:10 KEGG_Orthology KO:K00622 http://www.genome.jp/dbget-bin/www_bget?KO:K00622 KEGG_Pathway ko00232 http://www.genome.jp/kegg-bin/show_pathway?ko00232 KEGG_Pathway ko00633 http://www.genome.jp/kegg-bin/show_pathway?ko00633 KEGG_Pathway ko00983 http://www.genome.jp/kegg-bin/show_pathway?ko00983 KEGG_Pathway ko05204 http://www.genome.jp/kegg-bin/show_pathway?ko05204 KEGG_Reaction rn:R07940 http://www.genome.jp/dbget-bin/www_bget?rn:R07940 KEGG_Reaction rn:R08036 http://www.genome.jp/dbget-bin/www_bget?rn:R08036 KEGG_Reaction rn:R08248 http://www.genome.jp/dbget-bin/www_bget?rn:R08248 KEGG_Reaction rn:R08250 http://www.genome.jp/dbget-bin/www_bget?rn:R08250 MIM 243400 http://www.ncbi.nlm.nih.gov/omim/243400 MIM 612182 http://www.ncbi.nlm.nih.gov/omim/612182 Orphanet 240887 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=240887 OrthoDB EOG091G0CO6 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0CO6 PANTHER PTHR11786 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11786 PDB 2PFR http://www.ebi.ac.uk/pdbe-srv/view/entry/2PFR PDBsum 2PFR http://www.ebi.ac.uk/pdbsum/2PFR PRINTS PR01543 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01543 PSORT swissprot:ARY2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ARY2_HUMAN PSORT-B swissprot:ARY2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ARY2_HUMAN PSORT2 swissprot:ARY2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ARY2_HUMAN Pfam PF00797 http://pfam.xfam.org/family/PF00797 PharmGKB PA18 http://www.pharmgkb.org/do/serve?objId=PA18&objCls=Gene Phobius swissprot:ARY2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ARY2_HUMAN PhylomeDB P11245 http://phylomedb.org/?seqid=P11245 ProteinModelPortal P11245 http://www.proteinmodelportal.org/query/uniprot/P11245 PubMed 1381364 http://www.ncbi.nlm.nih.gov/pubmed/1381364 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16416399 http://www.ncbi.nlm.nih.gov/pubmed/16416399 PubMed 16421571 http://www.ncbi.nlm.nih.gov/pubmed/16421571 PubMed 1676262 http://www.ncbi.nlm.nih.gov/pubmed/1676262 PubMed 17656365 http://www.ncbi.nlm.nih.gov/pubmed/17656365 PubMed 1968463 http://www.ncbi.nlm.nih.gov/pubmed/1968463 PubMed 2068113 http://www.ncbi.nlm.nih.gov/pubmed/2068113 PubMed 2340091 http://www.ncbi.nlm.nih.gov/pubmed/2340091 PubMed 2734109 http://www.ncbi.nlm.nih.gov/pubmed/2734109 PubMed 2924904 http://www.ncbi.nlm.nih.gov/pubmed/2924904 PubMed 7915226 http://www.ncbi.nlm.nih.gov/pubmed/7915226 PubMed 7920692 http://www.ncbi.nlm.nih.gov/pubmed/7920692 PubMed 8466518 http://www.ncbi.nlm.nih.gov/pubmed/8466518 Reactome R-HSA-156582 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-156582 RefSeq NP_000006 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000006 RefSeq XP_016868427 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016868427 SMR P11245 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P11245 STRING 9606.ENSP00000286479 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000286479&targetmode=cogs STRING COG2162 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=COG2162&targetmode=cogs UCSC uc003wyw http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003wyw&org=rat UniGene Hs http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs UniProtKB ARY2_HUMAN http://www.uniprot.org/uniprot/ARY2_HUMAN UniProtKB-AC P11245 http://www.uniprot.org/uniprot/P11245 charge swissprot:ARY2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ARY2_HUMAN eggNOG COG2162 http://eggnogapi.embl.de/nog_data/html/tree/COG2162 eggNOG ENOG410IFD6 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IFD6 epestfind swissprot:ARY2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ARY2_HUMAN garnier swissprot:ARY2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ARY2_HUMAN helixturnhelix swissprot:ARY2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ARY2_HUMAN hmoment swissprot:ARY2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ARY2_HUMAN iep swissprot:ARY2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ARY2_HUMAN inforesidue swissprot:ARY2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ARY2_HUMAN neXtProt NX_P11245 http://www.nextprot.org/db/entry/NX_P11245 octanol swissprot:ARY2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ARY2_HUMAN pepcoil swissprot:ARY2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ARY2_HUMAN pepdigest swissprot:ARY2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ARY2_HUMAN pepinfo swissprot:ARY2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ARY2_HUMAN pepnet swissprot:ARY2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ARY2_HUMAN pepstats swissprot:ARY2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ARY2_HUMAN pepwheel swissprot:ARY2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ARY2_HUMAN pepwindow swissprot:ARY2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ARY2_HUMAN sigcleave swissprot:ARY2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ARY2_HUMAN ## Database ID URL or Descriptions # AltName GTR12_HUMAN Glucose transporter type 12 # BioGrid 127535 56 # CDD cd06174 MFS # ChiTaRS SLC2A12 human # Ensembl ENST00000275230 ENSP00000275230; ENSG00000146411 # FUNCTION GTR12_HUMAN Facilitative glucose transporter. {ECO 0000250}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0012505 endomembrane system; IEA:UniProtKB-SubCell. # GO_component GO:0048471 perinuclear region of cytoplasm; IEA:UniProtKB-SubCell. # GO_function GO:0005355 glucose transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0055056 D-glucose transmembrane transporter activity; TAS:Reactome. # GO_function GTR12_HUMAN GO 0005351 sugar proton symporter activity; IBA GO_Central. # GO_process GO:0046323 glucose import; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # Genevisible Q8TD20 HS # HGNC HGNC:18067 SLC2A12 # InterPro IPR003663 Sugar/inositol_transpt # InterPro IPR005828 MFS_sugar_transport-like # InterPro IPR005829 Sugar_transporter_CS # InterPro IPR020846 MFS_dom # KEGG_Brite ko02000 Transporters # KEGG_Brite ko02001 Solute carrier family # MIM 610372 gene # Organism GTR12_HUMAN Homo sapiens (Human) # PRINTS PR00171 SUGRTRNSPORT # PROSITE PS00216 SUGAR_TRANSPORT_1 # PROSITE PS50850 MFS # PTM GTR12_HUMAN N-glycosylated. {ECO 0000250}. # Pfam PF00083 Sugar_tr; 2 # Proteomes UP000005640 Chromosome 6 # Reactome R-HSA-428790 Facilitative Na+-independent glucose transporters # RecName GTR12_HUMAN Solute carrier family 2, facilitated glucose transporter member 12 # RefSeq NP_660159 NM_145176.2 # SEQUENCE CAUTION Sequence=BAB71214.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION GTR12_HUMAN Endomembrane system {ECO 0000250}; Multi- pass membrane protein {ECO 0000250}. Cytoplasm, perinuclear region {ECO 0000269|PubMed 11832379}. Note=Localizes primarily perinuclear region in the absence of insulin. # SUPFAM SSF103473 SSF103473; 2 # TCDB 2.A.1.1.87 the major facilitator superfamily (mfs) # TISSUE SPECIFICITY Predominantly expressed in skeletal muscle, heart and prostate, with lower levels in brain, placenta and kidney. {ECO:0000269|PubMed 11832379}. # UCSC uc003qem human # eggNOG ENOG410XNQK LUCA # eggNOG KOG0254 Eukaryota BLAST swissprot:GTR12_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:GTR12_HUMAN BioCyc ZFISH:ENSG00000146411-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000146411-MONOMER COXPRESdb 154091 http://coxpresdb.jp/data/gene/154091.shtml CleanEx HS_SLC2A12 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC2A12 DOI 10.1038/nature02055 http://dx.doi.org/10.1038/nature02055 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AK056554 http://www.ebi.ac.uk/ena/data/view/AK056554 EMBL AK122628 http://www.ebi.ac.uk/ena/data/view/AK122628 EMBL AL035699 http://www.ebi.ac.uk/ena/data/view/AL035699 EMBL AL035699 http://www.ebi.ac.uk/ena/data/view/AL035699 EMBL AL449363 http://www.ebi.ac.uk/ena/data/view/AL449363 EMBL AL449363 http://www.ebi.ac.uk/ena/data/view/AL449363 EMBL AY046419 http://www.ebi.ac.uk/ena/data/view/AY046419 EMBL BC070149 http://www.ebi.ac.uk/ena/data/view/BC070149 EMBL CH471051 http://www.ebi.ac.uk/ena/data/view/CH471051 Ensembl ENST00000275230 http://www.ensembl.org/id/ENST00000275230 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0012505 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0012505 GO_component GO:0048471 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048471 GO_function GO:0005351 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005351 GO_function GO:0005355 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005355 GO_function GO:0055056 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055056 GO_process GO:0046323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046323 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GeneCards SLC2A12 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC2A12 GeneID 154091 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=154091 GeneTree ENSGT00850000132274 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00850000132274 H-InvDB HIX0006232 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0006232 HGNC HGNC:18067 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:18067 HOGENOM HOG000202868 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000202868&db=HOGENOM6 HOVERGEN HBG051858 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG051858&db=HOVERGEN HPA HPA031593 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA031593 InParanoid Q8TD20 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8TD20 InterPro IPR003663 http://www.ebi.ac.uk/interpro/entry/IPR003663 InterPro IPR005828 http://www.ebi.ac.uk/interpro/entry/IPR005828 InterPro IPR005829 http://www.ebi.ac.uk/interpro/entry/IPR005829 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 154091 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=154091 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:154091 http://www.genome.jp/dbget-bin/www_bget?hsa:154091 KEGG_Orthology KO:K08149 http://www.genome.jp/dbget-bin/www_bget?KO:K08149 MIM 610372 http://www.ncbi.nlm.nih.gov/omim/610372 OMA WTSNFAI http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=WTSNFAI OrthoDB EOG091G085H http://cegg.unige.ch/orthodb/results?searchtext=EOG091G085H PRINTS PR00171 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00171 PROSITE PS00216 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00216 PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PSORT swissprot:GTR12_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:GTR12_HUMAN PSORT-B swissprot:GTR12_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:GTR12_HUMAN PSORT2 swissprot:GTR12_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:GTR12_HUMAN Pfam PF00083 http://pfam.xfam.org/family/PF00083 PharmGKB PA38288 http://www.pharmgkb.org/do/serve?objId=PA38288&objCls=Gene Phobius swissprot:GTR12_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:GTR12_HUMAN PhylomeDB Q8TD20 http://phylomedb.org/?seqid=Q8TD20 ProteinModelPortal Q8TD20 http://www.proteinmodelportal.org/query/uniprot/Q8TD20 PubMed 11832379 http://www.ncbi.nlm.nih.gov/pubmed/11832379 PubMed 14574404 http://www.ncbi.nlm.nih.gov/pubmed/14574404 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 Reactome R-HSA-428790 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-428790 RefSeq NP_660159 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_660159 SMR Q8TD20 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q8TD20 STRING 9606.ENSP00000275230 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000275230&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.1.1.87 http://www.tcdb.org/search/result.php?tc=2.A.1.1.87 UCSC uc003qem http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003qem&org=rat UniGene Hs.486508 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.486508 UniProtKB GTR12_HUMAN http://www.uniprot.org/uniprot/GTR12_HUMAN UniProtKB-AC Q8TD20 http://www.uniprot.org/uniprot/Q8TD20 charge swissprot:GTR12_HUMAN http://rest.g-language.org/emboss/charge/swissprot:GTR12_HUMAN eggNOG ENOG410XNQK http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XNQK eggNOG KOG0254 http://eggnogapi.embl.de/nog_data/html/tree/KOG0254 epestfind swissprot:GTR12_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:GTR12_HUMAN garnier swissprot:GTR12_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:GTR12_HUMAN helixturnhelix swissprot:GTR12_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:GTR12_HUMAN hmoment swissprot:GTR12_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:GTR12_HUMAN iep swissprot:GTR12_HUMAN http://rest.g-language.org/emboss/iep/swissprot:GTR12_HUMAN inforesidue swissprot:GTR12_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:GTR12_HUMAN neXtProt NX_Q8TD20 http://www.nextprot.org/db/entry/NX_Q8TD20 octanol swissprot:GTR12_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:GTR12_HUMAN pepcoil swissprot:GTR12_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:GTR12_HUMAN pepdigest swissprot:GTR12_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:GTR12_HUMAN pepinfo swissprot:GTR12_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:GTR12_HUMAN pepnet swissprot:GTR12_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:GTR12_HUMAN pepstats swissprot:GTR12_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:GTR12_HUMAN pepwheel swissprot:GTR12_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:GTR12_HUMAN pepwindow swissprot:GTR12_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:GTR12_HUMAN sigcleave swissprot:GTR12_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:GTR12_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS GBRE_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P78334-1; Sequence=Displayed; Name=2; IsoId=P78334-2; Sequence=VSP_055776, VSP_055777; Note=No experimental confirmation available.; # AltName GBRE_HUMAN GABA(A) receptor subunit epsilon # BioGrid 108838 42 # CCDS CCDS14703 -. [P78334-1] # ChiTaRS GABRE human # DrugBank DB00186 Lorazepam # DrugBank DB00189 Ethchlorvynol # DrugBank DB00228 Enflurane # DrugBank DB00231 Temazepam # DrugBank DB00237 Butabarbital # DrugBank DB00241 Butalbital # DrugBank DB00273 Topiramate # DrugBank DB00292 Etomidate # DrugBank DB00306 Talbutal # DrugBank DB00312 Pentobarbital # DrugBank DB00334 Olanzapine # DrugBank DB00349 Clobazam # DrugBank DB00371 Meprobamate # DrugBank DB00402 Eszopiclone # DrugBank DB00404 Alprazolam # DrugBank DB00475 Chlordiazepoxide # DrugBank DB00543 Amoxapine # DrugBank DB00546 Adinazolam # DrugBank DB00628 Clorazepate # DrugBank DB00659 Acamprosate # DrugBank DB00683 Midazolam # DrugBank DB00690 Flurazepam # DrugBank DB00753 Isoflurane # DrugBank DB00794 Primidone # DrugBank DB00801 Halazepam # DrugBank DB00818 Propofol # DrugBank DB00829 Diazepam # DrugBank DB00842 Oxazepam # DrugBank DB00897 Triazolam # DrugBank DB00898 Ethanol # DrugBank DB01028 Methoxyflurane # DrugBank DB01049 Ergoloid mesylate # DrugBank DB01068 Clonazepam # DrugBank DB01107 Methyprylon # DrugBank DB01159 Halothane # DrugBank DB01189 Desflurane # DrugBank DB01205 Flumazenil # DrugBank DB01215 Estazolam # DrugBank DB01236 Sevoflurane # DrugBank DB01437 Glutethimide # DrugBank DB01558 Bromazepam # DrugBank DB01559 Clotiazepam # DrugBank DB01567 Fludiazepam # DrugBank DB01587 Ketazolam # DrugBank DB01588 Prazepam # DrugBank DB01589 Quazepam # DrugBank DB01594 Cinolazepam # DrugBank DB01595 Nitrazepam # Ensembl ENST00000370328 ENSP00000359353; ENSG00000102287. [P78334-1] # ExpressionAtlas P78334 baseline and differential # FUNCTION GBRE_HUMAN GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0034707 chloride channel complex; IEA:UniProtKB-KW. # GO_component GO:0045211 postsynaptic membrane; IEA:UniProtKB-SubCell. # GO_component GO:1902711 GABA-A receptor complex; IDA:GO_Central. # GO_function GO:0004890 GABA-A receptor activity; IEA:InterPro. # GO_function GO:0022851 GABA-gated chloride ion channel activity; IDA:GO_Central. # GO_process GO:2001226 negative regulation of chloride transport; IDA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0008150 biological_process # Gene3D 2.70.170.10 -; 1. # Genevisible P78334 HS # HGNC HGNC:4085 GABRE # InterPro IPR006028 GABAA/Glycine_rcpt # InterPro IPR006029 Neurotrans-gated_channel_TM # InterPro IPR006201 Neur_channel # InterPro IPR006202 Neur_chan_lig-bd # InterPro IPR008099 GABAAe_rcpt # InterPro IPR018000 Neurotransmitter_ion_chnl_CS # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04080 Neuroactive ligand-receptor interaction # KEGG_Pathway ko04723 Retrograde endocannabinoid signaling # KEGG_Pathway ko04727 GABAergic synapse # KEGG_Pathway ko05032 Morphine addiction # KEGG_Pathway ko05033 Nicotine addiction # MIM 300093 gene # Organism GBRE_HUMAN Homo sapiens (Human) # PANTHER PTHR18945 PTHR18945; 2 # PRINTS PR00252 NRIONCHANNEL # PRINTS PR00253 GABAARECEPTR # PRINTS PR01723 GABAAREPSLON # PROSITE PS00236 NEUROTR_ION_CHANNEL # Pfam PF02931 Neur_chan_LBD # Pfam PF02932 Neur_chan_memb # Proteomes UP000005640 Chromosome X # RecName GBRE_HUMAN Gamma-aminobutyric acid receptor subunit epsilon # RefSeq NP_004952 NM_004961.3. [P78334-1] # SIMILARITY Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRE sub-subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION GBRE_HUMAN Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. # SUBUNIT GBRE_HUMAN Generally pentameric. Associates with alpha and beta subunits. # SUPFAM SSF63712 SSF63712 # SUPFAM SSF90112 SSF90112; 2 # TIGRFAMs TIGR00860 LIC # TISSUE SPECIFICITY GBRE_HUMAN Expressed in many tissues. Highest levels of expression in adult heart and placenta. # UCSC uc004ffi human. [P78334-1] # eggNOG ENOG410XNQG LUCA # eggNOG KOG3642 Eukaryota BLAST swissprot:GBRE_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:GBRE_HUMAN BioCyc ZFISH:ENSG00000102287-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000102287-MONOMER COXPRESdb 2564 http://coxpresdb.jp/data/gene/2564.shtml CleanEx HS_GABRE http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_GABRE DOI 10.1006/geno.1997.4885 http://dx.doi.org/10.1006/geno.1997.4885 DOI 10.1038/385820a0 http://dx.doi.org/10.1038/385820a0 DOI 10.1038/nature03440 http://dx.doi.org/10.1038/nature03440 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DrugBank DB00186 http://www.drugbank.ca/drugs/DB00186 DrugBank DB00189 http://www.drugbank.ca/drugs/DB00189 DrugBank DB00228 http://www.drugbank.ca/drugs/DB00228 DrugBank DB00231 http://www.drugbank.ca/drugs/DB00231 DrugBank DB00237 http://www.drugbank.ca/drugs/DB00237 DrugBank DB00241 http://www.drugbank.ca/drugs/DB00241 DrugBank DB00273 http://www.drugbank.ca/drugs/DB00273 DrugBank DB00292 http://www.drugbank.ca/drugs/DB00292 DrugBank DB00306 http://www.drugbank.ca/drugs/DB00306 DrugBank DB00312 http://www.drugbank.ca/drugs/DB00312 DrugBank DB00334 http://www.drugbank.ca/drugs/DB00334 DrugBank DB00349 http://www.drugbank.ca/drugs/DB00349 DrugBank DB00371 http://www.drugbank.ca/drugs/DB00371 DrugBank DB00402 http://www.drugbank.ca/drugs/DB00402 DrugBank DB00404 http://www.drugbank.ca/drugs/DB00404 DrugBank DB00475 http://www.drugbank.ca/drugs/DB00475 DrugBank DB00543 http://www.drugbank.ca/drugs/DB00543 DrugBank DB00546 http://www.drugbank.ca/drugs/DB00546 DrugBank DB00628 http://www.drugbank.ca/drugs/DB00628 DrugBank DB00659 http://www.drugbank.ca/drugs/DB00659 DrugBank DB00683 http://www.drugbank.ca/drugs/DB00683 DrugBank DB00690 http://www.drugbank.ca/drugs/DB00690 DrugBank DB00753 http://www.drugbank.ca/drugs/DB00753 DrugBank DB00794 http://www.drugbank.ca/drugs/DB00794 DrugBank DB00801 http://www.drugbank.ca/drugs/DB00801 DrugBank DB00818 http://www.drugbank.ca/drugs/DB00818 DrugBank DB00829 http://www.drugbank.ca/drugs/DB00829 DrugBank DB00842 http://www.drugbank.ca/drugs/DB00842 DrugBank DB00897 http://www.drugbank.ca/drugs/DB00897 DrugBank DB00898 http://www.drugbank.ca/drugs/DB00898 DrugBank DB01028 http://www.drugbank.ca/drugs/DB01028 DrugBank DB01049 http://www.drugbank.ca/drugs/DB01049 DrugBank DB01068 http://www.drugbank.ca/drugs/DB01068 DrugBank DB01107 http://www.drugbank.ca/drugs/DB01107 DrugBank DB01159 http://www.drugbank.ca/drugs/DB01159 DrugBank DB01189 http://www.drugbank.ca/drugs/DB01189 DrugBank DB01205 http://www.drugbank.ca/drugs/DB01205 DrugBank DB01215 http://www.drugbank.ca/drugs/DB01215 DrugBank DB01236 http://www.drugbank.ca/drugs/DB01236 DrugBank DB01437 http://www.drugbank.ca/drugs/DB01437 DrugBank DB01558 http://www.drugbank.ca/drugs/DB01558 DrugBank DB01559 http://www.drugbank.ca/drugs/DB01559 DrugBank DB01567 http://www.drugbank.ca/drugs/DB01567 DrugBank DB01587 http://www.drugbank.ca/drugs/DB01587 DrugBank DB01588 http://www.drugbank.ca/drugs/DB01588 DrugBank DB01589 http://www.drugbank.ca/drugs/DB01589 DrugBank DB01594 http://www.drugbank.ca/drugs/DB01594 DrugBank DB01595 http://www.drugbank.ca/drugs/DB01595 EMBL AF274855 http://www.ebi.ac.uk/ena/data/view/AF274855 EMBL BC026337 http://www.ebi.ac.uk/ena/data/view/BC026337 EMBL BC047108 http://www.ebi.ac.uk/ena/data/view/BC047108 EMBL BC059376 http://www.ebi.ac.uk/ena/data/view/BC059376 EMBL U66661 http://www.ebi.ac.uk/ena/data/view/U66661 EMBL U92281 http://www.ebi.ac.uk/ena/data/view/U92281 EMBL U92282 http://www.ebi.ac.uk/ena/data/view/U92282 EMBL U92283 http://www.ebi.ac.uk/ena/data/view/U92283 EMBL Y07637 http://www.ebi.ac.uk/ena/data/view/Y07637 EMBL Y09763 http://www.ebi.ac.uk/ena/data/view/Y09763 EMBL Y09764 http://www.ebi.ac.uk/ena/data/view/Y09764 EMBL Y09765 http://www.ebi.ac.uk/ena/data/view/Y09765 Ensembl ENST00000370328 http://www.ensembl.org/id/ENST00000370328 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0034707 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034707 GO_component GO:0045211 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045211 GO_component GO:1902711 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902711 GO_function GO:0004890 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004890 GO_function GO:0022851 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022851 GO_process GO:2001226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2001226 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 Gene3D 2.70.170.10 http://www.cathdb.info/version/latest/superfamily/2.70.170.10 GeneCards GABRE http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=GABRE GeneID 2564 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=2564 GeneTree ENSGT00760000119010 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119010 HGNC HGNC:4085 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:4085 HOGENOM HOG000231337 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231337&db=HOGENOM6 HOVERGEN HBG051707 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG051707&db=HOVERGEN HPA HPA045918 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA045918 InParanoid P78334 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P78334 InterPro IPR006028 http://www.ebi.ac.uk/interpro/entry/IPR006028 InterPro IPR006029 http://www.ebi.ac.uk/interpro/entry/IPR006029 InterPro IPR006201 http://www.ebi.ac.uk/interpro/entry/IPR006201 InterPro IPR006202 http://www.ebi.ac.uk/interpro/entry/IPR006202 InterPro IPR008099 http://www.ebi.ac.uk/interpro/entry/IPR008099 InterPro IPR018000 http://www.ebi.ac.uk/interpro/entry/IPR018000 Jabion 2564 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=2564 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:2564 http://www.genome.jp/dbget-bin/www_bget?hsa:2564 KEGG_Orthology KO:K05185 http://www.genome.jp/dbget-bin/www_bget?KO:K05185 KEGG_Pathway ko04080 http://www.genome.jp/kegg-bin/show_pathway?ko04080 KEGG_Pathway ko04723 http://www.genome.jp/kegg-bin/show_pathway?ko04723 KEGG_Pathway ko04727 http://www.genome.jp/kegg-bin/show_pathway?ko04727 KEGG_Pathway ko05032 http://www.genome.jp/kegg-bin/show_pathway?ko05032 KEGG_Pathway ko05033 http://www.genome.jp/kegg-bin/show_pathway?ko05033 MIM 300093 http://www.ncbi.nlm.nih.gov/omim/300093 OMA CALMEFA http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=CALMEFA OrthoDB EOG091G0805 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0805 PANTHER PTHR18945 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR18945 PRINTS PR00252 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00252 PRINTS PR00253 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00253 PRINTS PR01723 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01723 PROSITE PS00236 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00236 PSORT swissprot:GBRE_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:GBRE_HUMAN PSORT-B swissprot:GBRE_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:GBRE_HUMAN PSORT2 swissprot:GBRE_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:GBRE_HUMAN Pfam PF02931 http://pfam.xfam.org/family/PF02931 Pfam PF02932 http://pfam.xfam.org/family/PF02932 PharmGKB PA28499 http://www.pharmgkb.org/do/serve?objId=PA28499&objCls=Gene Phobius swissprot:GBRE_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:GBRE_HUMAN PhylomeDB P78334 http://phylomedb.org/?seqid=P78334 ProteinModelPortal P78334 http://www.proteinmodelportal.org/query/uniprot/P78334 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15772651 http://www.ncbi.nlm.nih.gov/pubmed/15772651 PubMed 9039914 http://www.ncbi.nlm.nih.gov/pubmed/9039914 PubMed 9084408 http://www.ncbi.nlm.nih.gov/pubmed/9084408 PubMed 9339354 http://www.ncbi.nlm.nih.gov/pubmed/9339354 RefSeq NP_004952 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004952 SMR P78334 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P78334 STRING 9606.ENSP00000359353 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000359353&targetmode=cogs SUPFAM SSF63712 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF63712 SUPFAM SSF90112 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF90112 TIGRFAMs TIGR00860 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00860 UCSC uc004ffi http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc004ffi&org=rat UniGene Hs.22785 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.22785 UniProtKB GBRE_HUMAN http://www.uniprot.org/uniprot/GBRE_HUMAN UniProtKB-AC P78334 http://www.uniprot.org/uniprot/P78334 charge swissprot:GBRE_HUMAN http://rest.g-language.org/emboss/charge/swissprot:GBRE_HUMAN eggNOG ENOG410XNQG http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XNQG eggNOG KOG3642 http://eggnogapi.embl.de/nog_data/html/tree/KOG3642 epestfind swissprot:GBRE_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:GBRE_HUMAN garnier swissprot:GBRE_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:GBRE_HUMAN helixturnhelix swissprot:GBRE_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:GBRE_HUMAN hmoment swissprot:GBRE_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:GBRE_HUMAN iep swissprot:GBRE_HUMAN http://rest.g-language.org/emboss/iep/swissprot:GBRE_HUMAN inforesidue swissprot:GBRE_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:GBRE_HUMAN neXtProt NX_P78334 http://www.nextprot.org/db/entry/NX_P78334 octanol swissprot:GBRE_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:GBRE_HUMAN pepcoil swissprot:GBRE_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:GBRE_HUMAN pepdigest swissprot:GBRE_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:GBRE_HUMAN pepinfo swissprot:GBRE_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:GBRE_HUMAN pepnet swissprot:GBRE_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:GBRE_HUMAN pepstats swissprot:GBRE_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:GBRE_HUMAN pepwheel swissprot:GBRE_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:GBRE_HUMAN pepwindow swissprot:GBRE_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:GBRE_HUMAN sigcleave swissprot:GBRE_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:GBRE_HUMAN ## Database ID URL or Descriptions # AltName NTCP4_HUMAN Na(+)/bile acid cotransporter 4 # AltName NTCP4_HUMAN Solute carrier family 10 member 4 # Ensembl ENST00000273861 ENSP00000273861; ENSG00000145248 # FUNCTION NTCP4_HUMAN Transporter for bile acids. {ECO 0000269|PubMed 23589386}. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_function NTCP4_HUMAN GO 0008508 bile acid sodium symporter activity; IBA GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # Genevisible Q96EP9 HS # HGNC HGNC:22980 SLC10A4 # InterPro IPR002657:BilAc Na_symport/Acr3 # KEGG_Brite ko02001 Solute carrier family # Organism NTCP4_HUMAN Homo sapiens (Human) # PANTHER PTHR10361 PTHR10361 # PTM NTCP4_HUMAN Activated following N-terminal proteolytic cleavage by thrombin and/or proteases. {ECO 0000269|PubMed 23589386}. # Pfam PF01758 SBF # Proteomes UP000005640 Chromosome 4 # RecName NTCP4_HUMAN Sodium/bile acid cotransporter 4 # RefSeq NP_689892 NM_152679.3 # SIMILARITY Belongs to the bile acid:sodium symporter (BASS) (TC 2.A.28) family. {ECO 0000305}. # SUBCELLULAR LOCATION NTCP4_HUMAN Cell membrane {ECO 0000269|PubMed 23589386}; Multi-pass membrane protein {ECO 0000269|PubMed 23589386}. # TCDB 2.A.28.1:the bile acid na(+) symporter (bass) family # TISSUE SPECIFICITY Highly expressed in brain and small intestine, and moderately expressed in colon, heart, prostate, and testis. Very low levels were detected in kidney, liver, ovary, placenta, spleen, and thymus. {ECO:0000269|PubMed 18355966}. # UCSC uc003gyc human # eggNOG COG0385 LUCA # eggNOG KOG2718 Eukaryota BLAST swissprot:NTCP4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:NTCP4_HUMAN BioCyc ZFISH:ENSG00000145248-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000145248-MONOMER COXPRESdb 201780 http://coxpresdb.jp/data/gene/201780.shtml CleanEx HS_SLC10A4 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC10A4 DOI 10.1016/j.neuroscience.2008.01.049 http://dx.doi.org/10.1016/j.neuroscience.2008.01.049 DOI 10.1093/jb/mvt031 http://dx.doi.org/10.1093/jb/mvt031 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AY704414 http://www.ebi.ac.uk/ena/data/view/AY704414 EMBL BC012048 http://www.ebi.ac.uk/ena/data/view/BC012048 EMBL BC019066 http://www.ebi.ac.uk/ena/data/view/BC019066 Ensembl ENST00000273861 http://www.ensembl.org/id/ENST00000273861 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0008508 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008508 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GeneCards SLC10A4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC10A4 GeneID 201780 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=201780 GeneTree ENSGT00550000074505 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074505 HGNC HGNC:22980 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:22980 HOGENOM HOG000234524 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000234524&db=HOGENOM6 HOVERGEN HBG096155 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG096155&db=HOVERGEN HPA HPA028835 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA028835 InParanoid Q96EP9 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q96EP9 InterPro IPR002657 http://www.ebi.ac.uk/interpro/entry/IPR002657 Jabion 201780 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=201780 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:201780 http://www.genome.jp/dbget-bin/www_bget?hsa:201780 KEGG_Orthology KO:K14344 http://www.genome.jp/dbget-bin/www_bget?KO:K14344 OMA PHALPFW http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=PHALPFW OrthoDB EOG091G0GT5 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0GT5 PANTHER PTHR10361 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10361 PSORT swissprot:NTCP4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:NTCP4_HUMAN PSORT-B swissprot:NTCP4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:NTCP4_HUMAN PSORT2 swissprot:NTCP4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:NTCP4_HUMAN Pfam PF01758 http://pfam.xfam.org/family/PF01758 PharmGKB PA134941471 http://www.pharmgkb.org/do/serve?objId=PA134941471&objCls=Gene Phobius swissprot:NTCP4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:NTCP4_HUMAN PhylomeDB Q96EP9 http://phylomedb.org/?seqid=Q96EP9 ProteinModelPortal Q96EP9 http://www.proteinmodelportal.org/query/uniprot/Q96EP9 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 18355966 http://www.ncbi.nlm.nih.gov/pubmed/18355966 PubMed 23589386 http://www.ncbi.nlm.nih.gov/pubmed/23589386 RefSeq NP_689892 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_689892 STRING 9606.ENSP00000273861 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000273861&targetmode=cogs TCDB 2.A.28.1 http://www.tcdb.org/search/result.php?tc=2.A.28.1 UCSC uc003gyc http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003gyc&org=rat UniGene Hs.132591 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.132591 UniProtKB NTCP4_HUMAN http://www.uniprot.org/uniprot/NTCP4_HUMAN UniProtKB-AC Q96EP9 http://www.uniprot.org/uniprot/Q96EP9 charge swissprot:NTCP4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:NTCP4_HUMAN eggNOG COG0385 http://eggnogapi.embl.de/nog_data/html/tree/COG0385 eggNOG KOG2718 http://eggnogapi.embl.de/nog_data/html/tree/KOG2718 epestfind swissprot:NTCP4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:NTCP4_HUMAN garnier swissprot:NTCP4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:NTCP4_HUMAN helixturnhelix swissprot:NTCP4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:NTCP4_HUMAN hmoment swissprot:NTCP4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:NTCP4_HUMAN iep swissprot:NTCP4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:NTCP4_HUMAN inforesidue swissprot:NTCP4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:NTCP4_HUMAN neXtProt NX_Q96EP9 http://www.nextprot.org/db/entry/NX_Q96EP9 octanol swissprot:NTCP4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:NTCP4_HUMAN pepcoil swissprot:NTCP4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:NTCP4_HUMAN pepdigest swissprot:NTCP4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:NTCP4_HUMAN pepinfo swissprot:NTCP4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:NTCP4_HUMAN pepnet swissprot:NTCP4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:NTCP4_HUMAN pepstats swissprot:NTCP4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:NTCP4_HUMAN pepwheel swissprot:NTCP4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:NTCP4_HUMAN pepwindow swissprot:NTCP4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:NTCP4_HUMAN sigcleave swissprot:NTCP4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:NTCP4_HUMAN ## Database ID URL or Descriptions # AltName SCNAA_HUMAN Peripheral nerve sodium channel 3 # AltName SCNAA_HUMAN Sodium channel protein type X subunit alpha # AltName SCNAA_HUMAN Voltage-gated sodium channel subunit alpha Nav1.8 # DISEASE SCNAA_HUMAN Episodic pain syndrome, familial, 2 (FEPS2) [MIM 615551] An autosomal dominant neurologic disorder characterized by adult- onset of paroxysmal pain mainly affecting the distal lower extremities. {ECO 0000269|PubMed 23115331}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DOMAIN SCNAA_HUMAN The sequence contains 4 internal repeats, each with 5 hydrophobic segments (S1,S2,S3,S5,S6) and one positively charged segment (S4). Segments S4 are probably the voltage-sensors and are characterized by a series of positively charged amino acids at every third position. # DrugBank DB00281 Lidocaine # DrugBank DB00296 Ropivacaine # DrugBank DB00297 Bupivacaine # DrugBank DB00313 Valproic Acid # DrugBank DB00473 Hexylcaine # DrugBank DB00527 Cinchocaine # DrugBank DB00645 Dyclonine # DrugBank DB00721 Procaine # DrugBank DB00807 Proparacaine # DrugBank DB00892 Oxybuprocaine # DrugBank DB00907 Cocaine # DrugBank DB00961 Mepivacaine # DrugBank DB01002 Levobupivacaine # DrugBank DB01086 Benzocaine # DrugBank DB01161 Chloroprocaine # DrugBank DB01173 Orphenadrine # DrugBank DB06218 Lacosamide # Ensembl ENST00000449082 ENSP00000390600; ENSG00000185313 # FUNCTION SCNAA_HUMAN Tetrodotoxin-resistant channel that mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium- selective channel through which sodium ions may pass in accordance with their electrochemical gradient. Plays a role in neuropathic pain mechanisms. {ECO 0000269|PubMed 9839820}. # GO_component GO:0001518 voltage-gated sodium channel complex; IDA:BHF-UCL. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_component GO:0071439 clathrin complex; IEA:Ensembl. # GO_function GO:0005248 voltage-gated sodium channel activity; IDA:BHF-UCL. # GO_function GO:0044325 ion channel binding; IPI:BHF-UCL. # GO_process GO:0002027 regulation of heart rate; IMP:BHF-UCL. # GO_process GO:0007600 sensory perception; TAS:ProtInc. # GO_process GO:0019228 neuronal action potential; IBA:GO_Central. # GO_process GO:0019233 sensory perception of pain; IEA:Ensembl. # GO_process GO:0034765 regulation of ion transmembrane transport; IDA:BHF-UCL. # GO_process GO:0035725 sodium ion transmembrane transport; IDA:BHF-UCL. # GO_process GO:0042475 odontogenesis of dentin-containing tooth; IEA:Ensembl. # GO_process GO:0055117 regulation of cardiac muscle contraction; IMP:BHF-UCL. # GO_process GO:0060371 regulation of atrial cardiac muscle cell membrane depolarization; IMP:BHF-UCL. # GO_process GO:0086010 membrane depolarization during action potential; IBA:GO_Central. # GO_process GO:0086016 AV node cell action potential; IMP:BHF-UCL. # GO_process GO:0086043 bundle of His cell action potential; IMP:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0043226 organelle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0008150 biological_process # GOslim_process GO:0050877 neurological system process # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.20.120.350 -; 4. # Genevisible Q9Y5Y9 HS # HGNC HGNC:10582 SCN10A # InterPro IPR001696 Na_channel_asu # InterPro IPR005821 Ion_trans_dom # InterPro IPR010526 Na_trans_assoc # InterPro IPR027359 Channel_four-helix_dom # InterPro IPR028809 Na_channel_a10su # KEGG_Brite ko04040 Ion channels # KEGG_Disease H01391 [Nervous system disease] Familial episodic pain syndrome (FEPS) # MIM 604427 gene # MIM 615551 phenotype # Organism SCNAA_HUMAN Homo sapiens (Human) # Orphanet 306577 Sodium channelopathy-related small fiber neuropathy # Orphanet 46348 Paroxysmal extreme pain disorder # Orphanet 88642 Channelopathy-associated congenital insensitivity to pain # Orphanet 90026 Primary erythermalgia # PANTHER PTHR10037:SF208 PTHR10037:SF208; 3 # PRINTS PR00170 NACHANNEL # PTM SCNAA_HUMAN Phosphorylation at Ser-1451 by PKC in a highly conserved cytoplasmic loop slows inactivation of the sodium channel and reduces peak sodium currents. {ECO 0000250}. # PTM SCNAA_HUMAN Ubiquitinated by NEDD4L; which promotes its endocytosis. {ECO 0000250}. # Pfam PF00520 Ion_trans; 4 # Pfam PF06512 Na_trans_assoc # Proteomes UP000005640 Chromosome 3 # Reactome R-HSA-445095 Interaction between L1 and Ankyrins # Reactome R-HSA-5576892 Phase 0 - rapid depolarisation # RecName SCNAA_HUMAN Sodium channel protein type 10 subunit alpha # RefSeq NP_001280235 NM_001293306.2 # RefSeq NP_001280236 NM_001293307.2 # RefSeq NP_006505 NM_006514.3 # SIMILARITY Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.8/SCN10A subfamily. {ECO 0000305}. # SIMILARITY Contains 1 IQ domain. {ECO 0000305}. # SUBCELLULAR LOCATION SCNAA_HUMAN Cell membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. Note=It can be translocated to the cell membrane through association with S100A10. {ECO 0000250}. # SUBUNIT The channel consists of an ion conducting pore forming alpha-subunit regulated by one or more associated auxiliary subunits SCN1B, SCN2B and SCN3B; electrophysiological properties may vary depending on the type of the associated beta subunits. Found in a number of complexes with PRX, DYNLT1 and PDZD2. Interacts with proteins such as FSTL1, PRX, DYNLT1, PDZD2, S100A10 and many others (By similarity). Interacts with NEDD4 and NEDD4L. {ECO 0000250}. # TISSUE SPECIFICITY Expressed in the dorsal root ganglia and sciatic nerve. {ECO:0000269|PubMed 9839820}. # UCSC uc003ciq human # eggNOG ENOG410XNP6 LUCA # eggNOG KOG2301 Eukaryota BLAST swissprot:SCNAA_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SCNAA_HUMAN BioCyc ZFISH:G66-31820-MONOMER http://biocyc.org/getid?id=ZFISH:G66-31820-MONOMER COXPRESdb 6336 http://coxpresdb.jp/data/gene/6336.shtml CleanEx HS_SCN10A http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SCN10A DOI 10.1016/S0304-3959(98)00120-1 http://dx.doi.org/10.1016/S0304-3959(98)00120-1 DOI 10.1038/nature04728 http://dx.doi.org/10.1038/nature04728 DOI 10.1038/nature09639 http://dx.doi.org/10.1038/nature09639 DOI 10.1073/pnas.1216080109 http://dx.doi.org/10.1073/pnas.1216080109 DrugBank DB00281 http://www.drugbank.ca/drugs/DB00281 DrugBank DB00296 http://www.drugbank.ca/drugs/DB00296 DrugBank DB00297 http://www.drugbank.ca/drugs/DB00297 DrugBank DB00313 http://www.drugbank.ca/drugs/DB00313 DrugBank DB00473 http://www.drugbank.ca/drugs/DB00473 DrugBank DB00527 http://www.drugbank.ca/drugs/DB00527 DrugBank DB00645 http://www.drugbank.ca/drugs/DB00645 DrugBank DB00721 http://www.drugbank.ca/drugs/DB00721 DrugBank DB00807 http://www.drugbank.ca/drugs/DB00807 DrugBank DB00892 http://www.drugbank.ca/drugs/DB00892 DrugBank DB00907 http://www.drugbank.ca/drugs/DB00907 DrugBank DB00961 http://www.drugbank.ca/drugs/DB00961 DrugBank DB01002 http://www.drugbank.ca/drugs/DB01002 DrugBank DB01086 http://www.drugbank.ca/drugs/DB01086 DrugBank DB01161 http://www.drugbank.ca/drugs/DB01161 DrugBank DB01173 http://www.drugbank.ca/drugs/DB01173 DrugBank DB06218 http://www.drugbank.ca/drugs/DB06218 EMBL AC116038 http://www.ebi.ac.uk/ena/data/view/AC116038 EMBL AC137625 http://www.ebi.ac.uk/ena/data/view/AC137625 EMBL AF117907 http://www.ebi.ac.uk/ena/data/view/AF117907 Ensembl ENST00000449082 http://www.ensembl.org/id/ENST00000449082 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0001518 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001518 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_component GO:0071439 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071439 GO_function GO:0005248 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005248 GO_function GO:0044325 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044325 GO_process GO:0002027 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002027 GO_process GO:0007600 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007600 GO_process GO:0019228 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019228 GO_process GO:0019233 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019233 GO_process GO:0034765 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034765 GO_process GO:0035725 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035725 GO_process GO:0042475 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042475 GO_process GO:0055117 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055117 GO_process GO:0060371 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060371 GO_process GO:0086010 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086010 GO_process GO:0086016 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086016 GO_process GO:0086043 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086043 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.20.120.350 http://www.cathdb.info/version/latest/superfamily/1.20.120.350 GeneCards SCN10A http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SCN10A GeneID 6336 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6336 GeneTree ENSGT00830000128242 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00830000128242 H-InvDB HIX0030722 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0030722 HGNC HGNC:10582 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10582 HOGENOM HOG000231755 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231755&db=HOGENOM6 HOVERGEN HBG053100 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG053100&db=HOVERGEN InParanoid Q9Y5Y9 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9Y5Y9 InterPro IPR001696 http://www.ebi.ac.uk/interpro/entry/IPR001696 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR010526 http://www.ebi.ac.uk/interpro/entry/IPR010526 InterPro IPR027359 http://www.ebi.ac.uk/interpro/entry/IPR027359 InterPro IPR028809 http://www.ebi.ac.uk/interpro/entry/IPR028809 Jabion 6336 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6336 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H01391 http://www.genome.jp/dbget-bin/www_bget?H01391 KEGG_Gene hsa:6336 http://www.genome.jp/dbget-bin/www_bget?hsa:6336 KEGG_Orthology KO:K04842 http://www.genome.jp/dbget-bin/www_bget?KO:K04842 MIM 604427 http://www.ncbi.nlm.nih.gov/omim/604427 MIM 615551 http://www.ncbi.nlm.nih.gov/omim/615551 OMA MAMEHHG http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=MAMEHHG Orphanet 306577 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=306577 Orphanet 46348 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=46348 Orphanet 88642 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=88642 Orphanet 90026 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=90026 OrthoDB EOG091G00FK http://cegg.unige.ch/orthodb/results?searchtext=EOG091G00FK PANTHER PTHR10037:SF208 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10037:SF208 PRINTS PR00170 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00170 PSORT swissprot:SCNAA_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SCNAA_HUMAN PSORT-B swissprot:SCNAA_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SCNAA_HUMAN PSORT2 swissprot:SCNAA_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SCNAA_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF06512 http://pfam.xfam.org/family/PF06512 PharmGKB PA35000 http://www.pharmgkb.org/do/serve?objId=PA35000&objCls=Gene Phobius swissprot:SCNAA_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SCNAA_HUMAN PhylomeDB Q9Y5Y9 http://phylomedb.org/?seqid=Q9Y5Y9 ProteinModelPortal Q9Y5Y9 http://www.proteinmodelportal.org/query/uniprot/Q9Y5Y9 PubMed 16641997 http://www.ncbi.nlm.nih.gov/pubmed/16641997 PubMed 21248752 http://www.ncbi.nlm.nih.gov/pubmed/21248752 PubMed 23115331 http://www.ncbi.nlm.nih.gov/pubmed/23115331 PubMed 9839820 http://www.ncbi.nlm.nih.gov/pubmed/9839820 Reactome R-HSA-445095 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-445095 Reactome R-HSA-5576892 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576892 RefSeq NP_001280235 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001280235 RefSeq NP_001280236 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001280236 RefSeq NP_006505 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_006505 STRING 9606.ENSP00000390600 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000390600&targetmode=cogs UCSC uc003ciq http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003ciq&org=rat UniGene Hs.250443 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.250443 UniProtKB SCNAA_HUMAN http://www.uniprot.org/uniprot/SCNAA_HUMAN UniProtKB-AC Q9Y5Y9 http://www.uniprot.org/uniprot/Q9Y5Y9 charge swissprot:SCNAA_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SCNAA_HUMAN eggNOG ENOG410XNP6 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XNP6 eggNOG KOG2301 http://eggnogapi.embl.de/nog_data/html/tree/KOG2301 epestfind swissprot:SCNAA_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SCNAA_HUMAN garnier swissprot:SCNAA_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SCNAA_HUMAN helixturnhelix swissprot:SCNAA_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SCNAA_HUMAN hmoment swissprot:SCNAA_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SCNAA_HUMAN iep swissprot:SCNAA_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SCNAA_HUMAN inforesidue swissprot:SCNAA_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SCNAA_HUMAN neXtProt NX_Q9Y5Y9 http://www.nextprot.org/db/entry/NX_Q9Y5Y9 octanol swissprot:SCNAA_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SCNAA_HUMAN pepcoil swissprot:SCNAA_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SCNAA_HUMAN pepdigest swissprot:SCNAA_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SCNAA_HUMAN pepinfo swissprot:SCNAA_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SCNAA_HUMAN pepnet swissprot:SCNAA_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SCNAA_HUMAN pepstats swissprot:SCNAA_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SCNAA_HUMAN pepwheel swissprot:SCNAA_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SCNAA_HUMAN pepwindow swissprot:SCNAA_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SCNAA_HUMAN sigcleave swissprot:SCNAA_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SCNAA_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS GBRG2_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=P18507-1; Sequence=Displayed; Name=2; IsoId=P18507-2; Sequence=VSP_041124; Name=3; IsoId=P18507-3; Sequence=VSP_047323, VSP_041124; Note=No experimental confirmation available.; # AltName GBRG2_HUMAN GABA(A) receptor subunit gamma-2 # BioGrid 108840 13 # CCDS CCDS4358 -. [P18507-1] # CCDS CCDS4359 -. [P18507-2] # CCDS CCDS47333 -. [P18507-3] # ChiTaRS GABRG2 human # DISEASE GBRG2_HUMAN Epilepsy, childhood absence 2 (ECA2) [MIM 607681] A subtype of idiopathic generalized epilepsy characterized by an onset at age 6-7 years, frequent absence seizures (several per day) and bilateral, synchronous, symmetric 3-Hz spike waves on EEG. Tonic-clonic seizures often develop in adolescence. Some individuals manifest febrile seizures. Absence seizures may either remit or persist into adulthood. {ECO 0000269|PubMed 11326275}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. # DISEASE GBRG2_HUMAN Febrile seizures, familial, 8 (FEB8) [MIM 611277] Seizures associated with febrile episodes in childhood without any evidence of intracranial infection or defined pathologic or traumatic cause. It is a common condition, affecting 2-5% of children aged 3 months to 5 years. The majority are simple febrile seizures (generally defined as generalized onset, single seizures with a duration of less than 30 minutes). Complex febrile seizures are characterized by focal onset, duration greater than 30 minutes, and/or more than one seizure in a 24 hour period. The likelihood of developing epilepsy following simple febrile seizures is low. Complex febrile seizures are associated with a moderately increased incidence of epilepsy. {ECO 0000269|PubMed 16924025}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE GBRG2_HUMAN Generalized epilepsy with febrile seizures plus 3 (GEFS+3) [MIM 611277] A rare autosomal dominant, familial condition with incomplete penetrance and large intrafamilial variability. Patients display febrile seizures persisting sometimes beyond the age of 6 years and/or a variety of afebrile seizure types. This disease combines febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity. {ECO 0000269|PubMed 11326274}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DrugBank DB00186 Lorazepam # DrugBank DB00189 Ethchlorvynol # DrugBank DB00228 Enflurane # DrugBank DB00231 Temazepam # DrugBank DB00237 Butabarbital # DrugBank DB00241 Butalbital # DrugBank DB00273 Topiramate # DrugBank DB00292 Etomidate # DrugBank DB00306 Talbutal # DrugBank DB00312 Pentobarbital # DrugBank DB00334 Olanzapine # DrugBank DB00349 Clobazam # DrugBank DB00371 Meprobamate # DrugBank DB00402 Eszopiclone # DrugBank DB00404 Alprazolam # DrugBank DB00475 Chlordiazepoxide # DrugBank DB00543 Amoxapine # DrugBank DB00546 Adinazolam # DrugBank DB00628 Clorazepate # DrugBank DB00659 Acamprosate # DrugBank DB00683 Midazolam # DrugBank DB00690 Flurazepam # DrugBank DB00753 Isoflurane # DrugBank DB00794 Primidone # DrugBank DB00801 Halazepam # DrugBank DB00818 Propofol # DrugBank DB00829 Diazepam # DrugBank DB00842 Oxazepam # DrugBank DB00897 Triazolam # DrugBank DB01028 Methoxyflurane # DrugBank DB01049 Ergoloid mesylate # DrugBank DB01068 Clonazepam # DrugBank DB01107 Methyprylon # DrugBank DB01159 Halothane # DrugBank DB01189 Desflurane # DrugBank DB01205 Flumazenil # DrugBank DB01215 Estazolam # DrugBank DB01236 Sevoflurane # DrugBank DB01381 Ginkgo biloba # DrugBank DB01437 Glutethimide # DrugBank DB01558 Bromazepam # DrugBank DB01559 Clotiazepam # DrugBank DB01567 Fludiazepam # DrugBank DB01588 Prazepam # DrugBank DB01589 Quazepam # DrugBank DB01594 Cinolazepam # DrugBank DB01595 Nitrazepam # Ensembl ENST00000356592 ENSP00000349000; ENSG00000113327. [P18507-2] # Ensembl ENST00000361925 ENSP00000354651; ENSG00000113327. [P18507-1] # Ensembl ENST00000414552 ENSP00000410732; ENSG00000113327. [P18507-3] # ExpressionAtlas P18507 baseline and differential # FUNCTION GBRG2_HUMAN Component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the vertebrate brain. Functions also as histamine receptor and mediates cellular responses to histamine. Functions as receptor for diazepines and various anesthetics, such as pentobarbital; these are bound at a separate allosteric effector binding site. Functions as ligand- gated chloride channel. {ECO 0000269|PubMed 2538761}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; ISS:UniProtKB. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0030424 axon; IEA:Ensembl. # GO_component GO:0032590 dendrite membrane; ISS:BHF-UCL. # GO_component GO:0034707 chloride channel complex; IEA:UniProtKB-KW. # GO_component GO:0045211 postsynaptic membrane; IEA:UniProtKB-SubCell. # GO_component GO:1902711 GABA-A receptor complex; ISS:UniProtKB. # GO_function GO:0004890 GABA-A receptor activity; ISS:UniProtKB. # GO_function GO:0005230 extracellular ligand-gated ion channel activity; IEA:InterPro. # GO_function GO:0005254 chloride channel activity; ISS:UniProtKB. # GO_function GO:0008503 benzodiazepine receptor activity; TAS:ProtInc. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0007214 gamma-aminobutyric acid signaling pathway; TAS:ProtInc. # GO_process GO:0009791 post-embryonic development; IEA:Ensembl. # GO_process GO:0030534 adult behavior; IEA:Ensembl. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0051932 synaptic transmission, GABAergic; ISS:BHF-UCL. # GO_process GO:0071420 cellular response to histamine; ISS:UniProtKB. # GO_process GO:1902476 chloride transmembrane transport; ISS:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # GOslim_process GO:0055085 transmembrane transport # Gene3D 2.70.170.10 -; 1. # Genevisible P18507 HS # HGNC HGNC:4087 GABRG2 # InterPro IPR005437 GABBAg_rcpt # InterPro IPR005439 GABBAg2_rcpt # InterPro IPR006028 GABAA/Glycine_rcpt # InterPro IPR006029 Neurotrans-gated_channel_TM # InterPro IPR006201 Neur_channel # InterPro IPR006202 Neur_chan_lig-bd # InterPro IPR018000 Neurotransmitter_ion_chnl_CS # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00783 [Nervous system disease; Epilepsy] Dravet syndrome/ Severe myoclonic epilepsy in infancy (SMEI) # KEGG_Disease H00808 [Nervous system disease] Familial infantile myoclonic epilepsy (FIME) # KEGG_Pathway ko04080 Neuroactive ligand-receptor interaction # KEGG_Pathway ko04723 Retrograde endocannabinoid signaling # KEGG_Pathway ko04727 GABAergic synapse # KEGG_Pathway ko05032 Morphine addiction # KEGG_Pathway ko05033 Nicotine addiction # MIM 137164 gene # MIM 604233 phenotype # MIM 607681 phenotype # MIM 611277 phenotype # MISCELLANEOUS GBRG2_HUMAN This subunit carries the benzodiazepine binding site. # Organism GBRG2_HUMAN Homo sapiens (Human) # Orphanet 33069 Dravet syndrome # Orphanet 36387 Generalized epilepsy with febrile seizures-plus # Orphanet 64280 Childhood absence epilepsy # PANTHER PTHR18945 PTHR18945; 2 # PIR S03905 S03905 # PRINTS PR00252 NRIONCHANNEL # PRINTS PR00253 GABAARECEPTR # PRINTS PR01620 GABAARGAMMA # PRINTS PR01622 GABAARGAMMA2 # PROSITE PS00236 NEUROTR_ION_CHANNEL # PTM GBRG2_HUMAN Palmitoylated by ZDHHC3/GODZ; which may affect presynaptic clustering and/or cell surface stability. {ECO 0000250}. # Pfam PF02931 Neur_chan_LBD # Pfam PF02932 Neur_chan_memb # Proteomes UP000005640 Chromosome 5 # Reactome R-HSA-112314 Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell # Reactome R-HSA-975298 Ligand-gated ion channel transport # Reactome R-HSA-977441 GABA A receptor activation # RecName GBRG2_HUMAN Gamma-aminobutyric acid receptor subunit gamma-2 # RefSeq NP_000807 NM_000816.3. [P18507-1] # RefSeq NP_944493 NM_198903.2. [P18507-3] # RefSeq NP_944494 NM_198904.2. [P18507-2] # SIMILARITY Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRG2 sub-subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION GBRG2_HUMAN Cell junction, synapse, postsynaptic cell membrane {ECO 0000269|PubMed 2538761}; Multi-pass membrane protein {ECO 0000269|PubMed 2538761}. Cell membrane {ECO 0000269|PubMed 2538761}; Multi-pass membrane protein {ECO 0000269|PubMed 2538761}. Cell projection, dendrite {ECO 0000250|UniProtKB P22723}. Cytoplasmic vesicle membrane {ECO 0000250|UniProtKB P18508}. # SUBUNIT GBRG2_HUMAN Heteropentamer, formed by a combination of alpha, beta, gamma, delta and rho chains (PubMed 2538761). Interacts with GABARAP (PubMed 9892355). Interacts with KIF21B (By similarity). {ECO 0000250|UniProtKB P18508, ECO 0000269|PubMed 2538761, ECO 0000269|PubMed 9892355}. # SUPFAM SSF63712 SSF63712 # SUPFAM SSF90112 SSF90112 # TCDB 1.A.9.5 the neurotransmitter receptor, cys loop, ligand-gated ion channel (lic) family # TIGRFAMs TIGR00860 LIC # TopDownProteomics P18507-2 -. [P18507-2] # UCSC uc003lyy human. [P18507-1] # WEB RESOURCE GBRG2_HUMAN Name=Protein Spotlight; Note=Forbidden fruit - Issue 56 of March 2005; URL="http //web.expasy.org/spotlight/back_issues/056"; BLAST swissprot:GBRG2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:GBRG2_HUMAN BioCyc ZFISH:ENSG00000113327-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000113327-MONOMER COXPRESdb 2566 http://coxpresdb.jp/data/gene/2566.shtml CleanEx HS_GABRG2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_GABRG2 DOI 10.1038/16264 http://dx.doi.org/10.1038/16264 DOI 10.1038/338582a0 http://dx.doi.org/10.1038/338582a0 DOI 10.1038/88254 http://dx.doi.org/10.1038/88254 DOI 10.1038/88259 http://dx.doi.org/10.1038/88259 DOI 10.1038/jhg.2010.47 http://dx.doi.org/10.1038/jhg.2010.47 DOI 10.1038/nature02919 http://dx.doi.org/10.1038/nature02919 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1460-9568.2011.07767.x http://dx.doi.org/10.1111/j.1460-9568.2011.07767.x DOI 10.1111/j.1471-4159.1993.tb03243.x http://dx.doi.org/10.1111/j.1471-4159.1993.tb03243.x DOI 10.1212/01.wnl.0000230145.73496.a2 http://dx.doi.org/10.1212/01.wnl.0000230145.73496.a2 DrugBank DB00186 http://www.drugbank.ca/drugs/DB00186 DrugBank DB00189 http://www.drugbank.ca/drugs/DB00189 DrugBank DB00228 http://www.drugbank.ca/drugs/DB00228 DrugBank DB00231 http://www.drugbank.ca/drugs/DB00231 DrugBank DB00237 http://www.drugbank.ca/drugs/DB00237 DrugBank DB00241 http://www.drugbank.ca/drugs/DB00241 DrugBank DB00273 http://www.drugbank.ca/drugs/DB00273 DrugBank DB00292 http://www.drugbank.ca/drugs/DB00292 DrugBank DB00306 http://www.drugbank.ca/drugs/DB00306 DrugBank DB00312 http://www.drugbank.ca/drugs/DB00312 DrugBank DB00334 http://www.drugbank.ca/drugs/DB00334 DrugBank DB00349 http://www.drugbank.ca/drugs/DB00349 DrugBank DB00371 http://www.drugbank.ca/drugs/DB00371 DrugBank DB00402 http://www.drugbank.ca/drugs/DB00402 DrugBank DB00404 http://www.drugbank.ca/drugs/DB00404 DrugBank DB00475 http://www.drugbank.ca/drugs/DB00475 DrugBank DB00543 http://www.drugbank.ca/drugs/DB00543 DrugBank DB00546 http://www.drugbank.ca/drugs/DB00546 DrugBank DB00628 http://www.drugbank.ca/drugs/DB00628 DrugBank DB00659 http://www.drugbank.ca/drugs/DB00659 DrugBank DB00683 http://www.drugbank.ca/drugs/DB00683 DrugBank DB00690 http://www.drugbank.ca/drugs/DB00690 DrugBank DB00753 http://www.drugbank.ca/drugs/DB00753 DrugBank DB00794 http://www.drugbank.ca/drugs/DB00794 DrugBank DB00801 http://www.drugbank.ca/drugs/DB00801 DrugBank DB00818 http://www.drugbank.ca/drugs/DB00818 DrugBank DB00829 http://www.drugbank.ca/drugs/DB00829 DrugBank DB00842 http://www.drugbank.ca/drugs/DB00842 DrugBank DB00897 http://www.drugbank.ca/drugs/DB00897 DrugBank DB01028 http://www.drugbank.ca/drugs/DB01028 DrugBank DB01049 http://www.drugbank.ca/drugs/DB01049 DrugBank DB01068 http://www.drugbank.ca/drugs/DB01068 DrugBank DB01107 http://www.drugbank.ca/drugs/DB01107 DrugBank DB01159 http://www.drugbank.ca/drugs/DB01159 DrugBank DB01189 http://www.drugbank.ca/drugs/DB01189 DrugBank DB01205 http://www.drugbank.ca/drugs/DB01205 DrugBank DB01215 http://www.drugbank.ca/drugs/DB01215 DrugBank DB01236 http://www.drugbank.ca/drugs/DB01236 DrugBank DB01381 http://www.drugbank.ca/drugs/DB01381 DrugBank DB01437 http://www.drugbank.ca/drugs/DB01437 DrugBank DB01558 http://www.drugbank.ca/drugs/DB01558 DrugBank DB01559 http://www.drugbank.ca/drugs/DB01559 DrugBank DB01567 http://www.drugbank.ca/drugs/DB01567 DrugBank DB01588 http://www.drugbank.ca/drugs/DB01588 DrugBank DB01589 http://www.drugbank.ca/drugs/DB01589 DrugBank DB01594 http://www.drugbank.ca/drugs/DB01594 DrugBank DB01595 http://www.drugbank.ca/drugs/DB01595 EMBL AC008611 http://www.ebi.ac.uk/ena/data/view/AC008611 EMBL AC091926 http://www.ebi.ac.uk/ena/data/view/AC091926 EMBL AC091984 http://www.ebi.ac.uk/ena/data/view/AC091984 EMBL AF165124 http://www.ebi.ac.uk/ena/data/view/AF165124 EMBL BC059389 http://www.ebi.ac.uk/ena/data/view/BC059389 EMBL BC069348 http://www.ebi.ac.uk/ena/data/view/BC069348 EMBL BC074795 http://www.ebi.ac.uk/ena/data/view/BC074795 EMBL X15376 http://www.ebi.ac.uk/ena/data/view/X15376 Ensembl ENST00000356592 http://www.ensembl.org/id/ENST00000356592 Ensembl ENST00000361925 http://www.ensembl.org/id/ENST00000361925 Ensembl ENST00000414552 http://www.ensembl.org/id/ENST00000414552 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0030424 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030424 GO_component GO:0032590 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032590 GO_component GO:0034707 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034707 GO_component GO:0045211 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045211 GO_component GO:1902711 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902711 GO_function GO:0004890 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004890 GO_function GO:0005230 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005230 GO_function GO:0005254 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005254 GO_function GO:0008503 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008503 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0007214 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007214 GO_process GO:0009791 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009791 GO_process GO:0030534 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030534 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0051932 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051932 GO_process GO:0071420 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071420 GO_process GO:1902476 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902476 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 2.70.170.10 http://www.cathdb.info/version/latest/superfamily/2.70.170.10 GeneCards GABRG2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=GABRG2 GeneID 2566 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=2566 GeneTree ENSGT00760000119010 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119010 HGNC HGNC:4087 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:4087 HOGENOM HOG000231337 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231337&db=HOGENOM6 HOVERGEN HBG051707 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG051707&db=HOVERGEN InParanoid P18507 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P18507 InterPro IPR005437 http://www.ebi.ac.uk/interpro/entry/IPR005437 InterPro IPR005439 http://www.ebi.ac.uk/interpro/entry/IPR005439 InterPro IPR006028 http://www.ebi.ac.uk/interpro/entry/IPR006028 InterPro IPR006029 http://www.ebi.ac.uk/interpro/entry/IPR006029 InterPro IPR006201 http://www.ebi.ac.uk/interpro/entry/IPR006201 InterPro IPR006202 http://www.ebi.ac.uk/interpro/entry/IPR006202 InterPro IPR018000 http://www.ebi.ac.uk/interpro/entry/IPR018000 Jabion 2566 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=2566 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00783 http://www.genome.jp/dbget-bin/www_bget?H00783 KEGG_Disease H00808 http://www.genome.jp/dbget-bin/www_bget?H00808 KEGG_Gene hsa:2566 http://www.genome.jp/dbget-bin/www_bget?hsa:2566 KEGG_Orthology KO:K05186 http://www.genome.jp/dbget-bin/www_bget?KO:K05186 KEGG_Pathway ko04080 http://www.genome.jp/kegg-bin/show_pathway?ko04080 KEGG_Pathway ko04723 http://www.genome.jp/kegg-bin/show_pathway?ko04723 KEGG_Pathway ko04727 http://www.genome.jp/kegg-bin/show_pathway?ko04727 KEGG_Pathway ko05032 http://www.genome.jp/kegg-bin/show_pathway?ko05032 KEGG_Pathway ko05033 http://www.genome.jp/kegg-bin/show_pathway?ko05033 MIM 137164 http://www.ncbi.nlm.nih.gov/omim/137164 MIM 604233 http://www.ncbi.nlm.nih.gov/omim/604233 MIM 607681 http://www.ncbi.nlm.nih.gov/omim/607681 MIM 611277 http://www.ncbi.nlm.nih.gov/omim/611277 OMA YPGFTSQ http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=YPGFTSQ Orphanet 33069 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=33069 Orphanet 36387 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=36387 Orphanet 64280 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=64280 OrthoDB EOG091G0805 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0805 PANTHER PTHR18945 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR18945 PRINTS PR00252 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00252 PRINTS PR00253 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00253 PRINTS PR01620 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01620 PRINTS PR01622 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01622 PROSITE PS00236 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00236 PSORT swissprot:GBRG2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:GBRG2_HUMAN PSORT-B swissprot:GBRG2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:GBRG2_HUMAN PSORT2 swissprot:GBRG2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:GBRG2_HUMAN Pfam PF02931 http://pfam.xfam.org/family/PF02931 Pfam PF02932 http://pfam.xfam.org/family/PF02932 PharmGKB PA28501 http://www.pharmgkb.org/do/serve?objId=PA28501&objCls=Gene Phobius swissprot:GBRG2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:GBRG2_HUMAN PhylomeDB P18507 http://phylomedb.org/?seqid=P18507 ProteinModelPortal P18507 http://www.proteinmodelportal.org/query/uniprot/P18507 PubMed 11326274 http://www.ncbi.nlm.nih.gov/pubmed/11326274 PubMed 11326275 http://www.ncbi.nlm.nih.gov/pubmed/11326275 PubMed 11328646 http://www.ncbi.nlm.nih.gov/pubmed/11328646 PubMed 15372022 http://www.ncbi.nlm.nih.gov/pubmed/15372022 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16924025 http://www.ncbi.nlm.nih.gov/pubmed/16924025 PubMed 20485450 http://www.ncbi.nlm.nih.gov/pubmed/20485450 PubMed 21714819 http://www.ncbi.nlm.nih.gov/pubmed/21714819 PubMed 2538761 http://www.ncbi.nlm.nih.gov/pubmed/2538761 PubMed 8382267 http://www.ncbi.nlm.nih.gov/pubmed/8382267 PubMed 9892355 http://www.ncbi.nlm.nih.gov/pubmed/9892355 Reactome R-HSA-112314 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-112314 Reactome R-HSA-975298 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-975298 Reactome R-HSA-977441 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-977441 RefSeq NP_000807 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000807 RefSeq NP_944493 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_944493 RefSeq NP_944494 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_944494 SUPFAM SSF63712 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF63712 SUPFAM SSF90112 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF90112 TCDB 1.A.9.5 http://www.tcdb.org/search/result.php?tc=1.A.9.5 TIGRFAMs TIGR00860 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00860 UCSC uc003lyy http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003lyy&org=rat UniGene Hs.7195 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.7195 UniProtKB GBRG2_HUMAN http://www.uniprot.org/uniprot/GBRG2_HUMAN UniProtKB-AC P18507 http://www.uniprot.org/uniprot/P18507 charge swissprot:GBRG2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:GBRG2_HUMAN epestfind swissprot:GBRG2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:GBRG2_HUMAN garnier swissprot:GBRG2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:GBRG2_HUMAN helixturnhelix swissprot:GBRG2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:GBRG2_HUMAN hmoment swissprot:GBRG2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:GBRG2_HUMAN iep swissprot:GBRG2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:GBRG2_HUMAN inforesidue swissprot:GBRG2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:GBRG2_HUMAN neXtProt NX_P18507 http://www.nextprot.org/db/entry/NX_P18507 octanol swissprot:GBRG2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:GBRG2_HUMAN pepcoil swissprot:GBRG2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:GBRG2_HUMAN pepdigest swissprot:GBRG2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:GBRG2_HUMAN pepinfo swissprot:GBRG2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:GBRG2_HUMAN pepnet swissprot:GBRG2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:GBRG2_HUMAN pepstats swissprot:GBRG2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:GBRG2_HUMAN pepwheel swissprot:GBRG2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:GBRG2_HUMAN pepwindow swissprot:GBRG2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:GBRG2_HUMAN sigcleave swissprot:GBRG2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:GBRG2_HUMAN ## Database ID URL or Descriptions # AltName KCNJ6_HUMAN BIR1 # AltName KCNJ6_HUMAN Inward rectifier K(+) channel Kir3.2 # AltName KCNJ6_HUMAN KATP-2 # AltName KCNJ6_HUMAN Potassium channel, inwardly rectifying subfamily J member 6 # BioGrid 109965 13 # ChiTaRS KCNJ6 human # DISEASE KCNJ6_HUMAN Keppen-Lubinsky syndrome (KPLBS) [MIM 614098] A rare disease characterized by severe developmental delay, intellectual disability, severe generalized lipodystrophy, dysmorphic features including microcephaly, large prominent eyes, narrow nasal bridge, tented upper lip, high palate, open mouth, tightly adherent skin, and aged appearance. {ECO 0000269|PubMed 25620207}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DrugBank DB00898 Ethanol # DrugBank DB01159 Halothane # Ensembl ENST00000609713 ENSP00000477437; ENSG00000157542 # FUNCTION KCNJ6_HUMAN This potassium channel may be involved in the regulation of insulin secretion by glucose and/or neurotransmitters acting through G-protein-coupled receptors. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. # GO_component GO:0005794 Golgi apparatus; IDA:UniProtKB. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0008076 voltage-gated potassium channel complex; TAS:ProtInc. # GO_function GO:0005242 inward rectifier potassium channel activity; TAS:ProtInc. # GO_function GO:0015467 G-protein activated inward rectifier potassium channel activity; TAS:Reactome. # GO_process GO:0006813 potassium ion transport; TAS:ProtInc. # GO_process GO:0010107 potassium ion import; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005794 Golgi apparatus # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0055085 transmembrane transport # Gene3D 2.60.40.1400 -; 1. # Genevisible P48051 HS # HGNC HGNC:6267 KCNJ6 # InterPro IPR003275 K_chnl_inward-rec_Kir3.2 # InterPro IPR013518 K_chnl_inward-rec_Kir_cyto # InterPro IPR014756 Ig_E-set # InterPro IPR016449 K_chnl_inward-rec_Kir # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04713 Circadian entrainment # KEGG_Pathway ko04723 Retrograde endocannabinoid signaling # KEGG_Pathway ko04725 Cholinergic synapse # KEGG_Pathway ko04726 Serotonergic synapse # KEGG_Pathway ko04727 GABAergic synapse # KEGG_Pathway ko04728 Dopaminergic synapse # KEGG_Pathway ko05032 Morphine addiction # MIM 600877 gene # MIM 614098 phenotype # Organism KCNJ6_HUMAN Homo sapiens (Human) # PANTHER PTHR11767 PTHR11767 # PANTHER PTHR11767:SF19 PTHR11767:SF19 # PIR I38979 I38979 # PIRSF PIRSF005465 GIRK_kir # PRINTS PR01320 KIRCHANNEL # PRINTS PR01328 KIR32CHANNEL # Pfam PF01007 IRK # Proteomes UP000005640 Chromosome 21 # Reactome R-HSA-1296041 Activation of G protein gated Potassium channels # Reactome R-HSA-997272 Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits # RecName KCNJ6_HUMAN G protein-activated inward rectifier potassium channel 2 # RefSeq NP_002231 NM_002240.4 # SIMILARITY Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ6 subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION KCNJ6_HUMAN Membrane; Multi-pass membrane protein. # SUBUNIT Associates with GIRK1 or GIRK4 to form a G-protein- activated heteromultimer pore-forming unit. The resulting inward current is much larger. Interacts (via PDZ-binding motif) with SNX27 (via PDZ domain); the interaction is required when endocytosed to prevent degradation in lysosomes and promote recycling to the plasma membrane (By similarity). {ECO 0000250}. # SUPFAM SSF81296 SSF81296 # TCDB 1.A.2.1.10 inward rectifier k(+) channel (irk-c) family # TISSUE SPECIFICITY KCNJ6_HUMAN Most abundant in cerebellum, and to a lesser degree in islets and exocrine pancreas. # UCSC uc002ywn human # eggNOG ENOG410XQ62 LUCA # eggNOG KOG3827 Eukaryota BLAST swissprot:KCNJ6_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCNJ6_HUMAN BioCyc ZFISH:ENSG00000157542-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000157542-MONOMER COXPRESdb 3763 http://coxpresdb.jp/data/gene/3763.shtml CleanEx HS_KCNJ6 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNJ6 DOI 10.1016/0014-5793(95)00498-X http://dx.doi.org/10.1016/0014-5793(95)00498-X DOI 10.1016/S0898-6568(99)00059-5 http://dx.doi.org/10.1016/S0898-6568(99)00059-5 DOI 10.1016/j.ajhg.2014.12.011 http://dx.doi.org/10.1016/j.ajhg.2014.12.011 DOI 10.1074/jbc.270.44.26086 http://dx.doi.org/10.1074/jbc.270.44.26086 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.2337/diab.44.5.592 http://dx.doi.org/10.2337/diab.44.5.592 DrugBank DB00898 http://www.drugbank.ca/drugs/DB00898 DrugBank DB01159 http://www.drugbank.ca/drugs/DB01159 EMBL BC101547 http://www.ebi.ac.uk/ena/data/view/BC101547 EMBL D87327 http://www.ebi.ac.uk/ena/data/view/D87327 EMBL G02354 http://www.ebi.ac.uk/ena/data/view/G02354 EMBL L78480 http://www.ebi.ac.uk/ena/data/view/L78480 EMBL S78684 http://www.ebi.ac.uk/ena/data/view/S78684 EMBL S78685 http://www.ebi.ac.uk/ena/data/view/S78685 EMBL U24660 http://www.ebi.ac.uk/ena/data/view/U24660 EMBL U52153 http://www.ebi.ac.uk/ena/data/view/U52153 Ensembl ENST00000609713 http://www.ensembl.org/id/ENST00000609713 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0008076 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008076 GO_function GO:0005242 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005242 GO_function GO:0015467 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015467 GO_process GO:0006813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006813 GO_process GO:0010107 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010107 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 2.60.40.1400 http://www.cathdb.info/version/latest/superfamily/2.60.40.1400 GeneCards KCNJ6 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNJ6 GeneID 3763 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=3763 GeneTree ENSGT00760000118842 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118842 HGNC HGNC:6267 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6267 HOGENOM HOG000237325 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000237325&db=HOGENOM6 HOVERGEN HBG006178 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG006178&db=HOVERGEN HPA CAB012452 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB012452 InParanoid P48051 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P48051 InterPro IPR003275 http://www.ebi.ac.uk/interpro/entry/IPR003275 InterPro IPR013518 http://www.ebi.ac.uk/interpro/entry/IPR013518 InterPro IPR014756 http://www.ebi.ac.uk/interpro/entry/IPR014756 InterPro IPR016449 http://www.ebi.ac.uk/interpro/entry/IPR016449 Jabion 3763 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=3763 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:3763 http://www.genome.jp/dbget-bin/www_bget?hsa:3763 KEGG_Orthology KO:K05000 http://www.genome.jp/dbget-bin/www_bget?KO:K05000 KEGG_Pathway ko04713 http://www.genome.jp/kegg-bin/show_pathway?ko04713 KEGG_Pathway ko04723 http://www.genome.jp/kegg-bin/show_pathway?ko04723 KEGG_Pathway ko04725 http://www.genome.jp/kegg-bin/show_pathway?ko04725 KEGG_Pathway ko04726 http://www.genome.jp/kegg-bin/show_pathway?ko04726 KEGG_Pathway ko04727 http://www.genome.jp/kegg-bin/show_pathway?ko04727 KEGG_Pathway ko04728 http://www.genome.jp/kegg-bin/show_pathway?ko04728 KEGG_Pathway ko05032 http://www.genome.jp/kegg-bin/show_pathway?ko05032 MIM 600877 http://www.ncbi.nlm.nih.gov/omim/600877 MIM 614098 http://www.ncbi.nlm.nih.gov/omim/614098 OMA TIHQPKL http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=TIHQPKL OrthoDB EOG091G08HC http://cegg.unige.ch/orthodb/results?searchtext=EOG091G08HC PANTHER PTHR11767 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11767 PANTHER PTHR11767:SF19 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11767:SF19 PRINTS PR01320 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01320 PRINTS PR01328 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01328 PSORT swissprot:KCNJ6_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCNJ6_HUMAN PSORT-B swissprot:KCNJ6_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCNJ6_HUMAN PSORT2 swissprot:KCNJ6_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCNJ6_HUMAN Pfam PF01007 http://pfam.xfam.org/family/PF01007 PharmGKB PA30049 http://www.pharmgkb.org/do/serve?objId=PA30049&objCls=Gene Phobius swissprot:KCNJ6_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCNJ6_HUMAN PhylomeDB P48051 http://phylomedb.org/?seqid=P48051 ProteinModelPortal P48051 http://www.proteinmodelportal.org/query/uniprot/P48051 PubMed 10659995 http://www.ncbi.nlm.nih.gov/pubmed/10659995 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 25620207 http://www.ncbi.nlm.nih.gov/pubmed/25620207 PubMed 7592809 http://www.ncbi.nlm.nih.gov/pubmed/7592809 PubMed 7729621 http://www.ncbi.nlm.nih.gov/pubmed/7729621 PubMed 7796919 http://www.ncbi.nlm.nih.gov/pubmed/7796919 Reactome R-HSA-1296041 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1296041 Reactome R-HSA-997272 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-997272 RefSeq NP_002231 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_002231 SMR P48051 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P48051 STRING 9606.ENSP00000288309 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000288309&targetmode=cogs SUPFAM SSF81296 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81296 TCDB 1.A.2.1.10 http://www.tcdb.org/search/result.php?tc=1.A.2.1.10 UCSC uc002ywn http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002ywn&org=rat UniGene Hs.626242 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.626242 UniGene Hs.658533 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.658533 UniGene Hs.741904 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.741904 UniProtKB KCNJ6_HUMAN http://www.uniprot.org/uniprot/KCNJ6_HUMAN UniProtKB-AC P48051 http://www.uniprot.org/uniprot/P48051 charge swissprot:KCNJ6_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCNJ6_HUMAN eggNOG ENOG410XQ62 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XQ62 eggNOG KOG3827 http://eggnogapi.embl.de/nog_data/html/tree/KOG3827 epestfind swissprot:KCNJ6_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCNJ6_HUMAN garnier swissprot:KCNJ6_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCNJ6_HUMAN helixturnhelix swissprot:KCNJ6_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCNJ6_HUMAN hmoment swissprot:KCNJ6_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCNJ6_HUMAN iep swissprot:KCNJ6_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCNJ6_HUMAN inforesidue swissprot:KCNJ6_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCNJ6_HUMAN neXtProt NX_P48051 http://www.nextprot.org/db/entry/NX_P48051 octanol swissprot:KCNJ6_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCNJ6_HUMAN pepcoil swissprot:KCNJ6_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCNJ6_HUMAN pepdigest swissprot:KCNJ6_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCNJ6_HUMAN pepinfo swissprot:KCNJ6_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCNJ6_HUMAN pepnet swissprot:KCNJ6_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCNJ6_HUMAN pepstats swissprot:KCNJ6_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCNJ6_HUMAN pepwheel swissprot:KCNJ6_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCNJ6_HUMAN pepwindow swissprot:KCNJ6_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCNJ6_HUMAN sigcleave swissprot:KCNJ6_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCNJ6_HUMAN ## Database ID URL or Descriptions # AltName TI17A_HUMAN Inner membrane preprotein translocase Tim17a # BioGrid 115707 8 # ChiTaRS TIMM17A human # Ensembl ENST00000367287 ENSP00000356256; ENSG00000134375 # FUNCTION TI17A_HUMAN Essential component of the TIM23 complex, a complex that mediates the translocation of transit peptide-containing proteins across the mitochondrial inner membrane. # GO_component GO:0005654 nucleoplasm; IDA:HPA. # GO_component GO:0005739 mitochondrion; IDA:HPA. # GO_component GO:0005743 mitochondrial inner membrane; IDA:GO_Central. # GO_component GO:0005744 mitochondrial inner membrane presequence translocase complex; IDA:BHF-UCL. # GO_component GO:0031305 integral component of mitochondrial inner membrane; IDA:BHF-UCL. # GO_function GO:0015450 P-P-bond-hydrolysis-driven protein transmembrane transporter activity; IEA:InterPro. # GO_process GO:0006626 protein targeting to mitochondrion; TAS:ProtInc. # GO_process GO:0030150 protein import into mitochondrial matrix; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005654 nucleoplasm # GOslim_component GO:0005739 mitochondrion # GOslim_component GO:0043234 protein complex # GOslim_function GO:0008565 protein transporter activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006605 protein targeting # GOslim_process GO:0055085 transmembrane transport # Genevisible Q99595 HS # HGNC HGNC:17315 TIMM17A # IntAct Q99595 3 # InterPro IPR003397 Tim17/Tim22/Tim23/PMP24 # InterPro IPR005678 Tim17 # MIM 605057 gene # Organism TI17A_HUMAN Homo sapiens (Human) # PANTHER PTHR10485 PTHR10485 # Pfam PF02466 Tim17 # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-1268020 Mitochondrial protein import # RecName TI17A_HUMAN Mitochondrial import inner membrane translocase subunit Tim17-A # RefSeq NP_006326 NM_006335.2 # SIMILARITY Belongs to the Tim17/Tim22/Tim23 family. {ECO 0000305}. # SUBCELLULAR LOCATION TI17A_HUMAN Mitochondrion inner membrane; Multi-pass membrane protein. # SUBUNIT Component of the TIM23 complex at least composed of TIMM23, TIMM17 (TIMM17A or TIMM17B) and TIMM50. The complex interacts with the TIMM44 component of the PAM complex and with DNAJC15. {ECO:0000269|PubMed 23263864}. # TIGRFAMs TIGR00980 3a0801so1tim17 # UCSC uc001gxc human # eggNOG COG5596 LUCA # eggNOG KOG1652 Eukaryota BLAST swissprot:TI17A_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:TI17A_HUMAN BioCyc ZFISH:ENSG00000134375-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000134375-MONOMER COXPRESdb 10440 http://coxpresdb.jp/data/gene/10440.shtml CleanEx HS_TIMM17A http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_TIMM17A DOI 10.1006/jmbi.1996.0522 http://dx.doi.org/10.1006/jmbi.1996.0522 DOI 10.1006/jmbi.1999.2751 http://dx.doi.org/10.1006/jmbi.1999.2751 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1093/hmg/dds541 http://dx.doi.org/10.1093/hmg/dds541 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AF106622 http://www.ebi.ac.uk/ena/data/view/AF106622 EMBL AK315602 http://www.ebi.ac.uk/ena/data/view/AK315602 EMBL BC000294 http://www.ebi.ac.uk/ena/data/view/BC000294 EMBL BC004439 http://www.ebi.ac.uk/ena/data/view/BC004439 EMBL BC007106 http://www.ebi.ac.uk/ena/data/view/BC007106 EMBL BC009784 http://www.ebi.ac.uk/ena/data/view/BC009784 EMBL BC015098 http://www.ebi.ac.uk/ena/data/view/BC015098 EMBL BC020833 http://www.ebi.ac.uk/ena/data/view/BC020833 EMBL CH471067 http://www.ebi.ac.uk/ena/data/view/CH471067 EMBL X97544 http://www.ebi.ac.uk/ena/data/view/X97544 Ensembl ENST00000367287 http://www.ensembl.org/id/ENST00000367287 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0005744 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005744 GO_component GO:0031305 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031305 GO_function GO:0015450 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015450 GO_process GO:0006626 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006626 GO_process GO:0030150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030150 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006605 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006605 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards TIMM17A http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=TIMM17A GeneID 10440 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=10440 GeneTree ENSGT00390000017780 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000017780 HGNC HGNC:17315 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:17315 HOGENOM HOG000183190 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000183190&db=HOGENOM6 HOVERGEN HBG054233 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG054233&db=HOVERGEN HPA HPA010083 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA010083 InParanoid Q99595 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q99595 IntAct Q99595 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q99595* InterPro IPR003397 http://www.ebi.ac.uk/interpro/entry/IPR003397 InterPro IPR005678 http://www.ebi.ac.uk/interpro/entry/IPR005678 Jabion 10440 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=10440 KEGG_Gene hsa:10440 http://www.genome.jp/dbget-bin/www_bget?hsa:10440 MIM 605057 http://www.ncbi.nlm.nih.gov/omim/605057 MINT MINT-1411052 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1411052 OMA VGICFTR http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=VGICFTR OrthoDB EOG091G0PGZ http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0PGZ PANTHER PTHR10485 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10485 PSORT swissprot:TI17A_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:TI17A_HUMAN PSORT-B swissprot:TI17A_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:TI17A_HUMAN PSORT2 swissprot:TI17A_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:TI17A_HUMAN Pfam PF02466 http://pfam.xfam.org/family/PF02466 PharmGKB PA38228 http://www.pharmgkb.org/do/serve?objId=PA38228&objCls=Gene Phobius swissprot:TI17A_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:TI17A_HUMAN PhylomeDB Q99595 http://phylomedb.org/?seqid=Q99595 ProteinModelPortal Q99595 http://www.proteinmodelportal.org/query/uniprot/Q99595 PubMed 10339406 http://www.ncbi.nlm.nih.gov/pubmed/10339406 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 23263864 http://www.ncbi.nlm.nih.gov/pubmed/23263864 PubMed 8893850 http://www.ncbi.nlm.nih.gov/pubmed/8893850 Reactome R-HSA-1268020 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1268020 RefSeq NP_006326 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_006326 STRING 9606.ENSP00000356256 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000356256&targetmode=cogs TIGRFAMs TIGR00980 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00980 UCSC uc001gxc http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001gxc&org=rat UniGene Hs.20716 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.20716 UniProtKB TI17A_HUMAN http://www.uniprot.org/uniprot/TI17A_HUMAN UniProtKB-AC Q99595 http://www.uniprot.org/uniprot/Q99595 charge swissprot:TI17A_HUMAN http://rest.g-language.org/emboss/charge/swissprot:TI17A_HUMAN eggNOG COG5596 http://eggnogapi.embl.de/nog_data/html/tree/COG5596 eggNOG KOG1652 http://eggnogapi.embl.de/nog_data/html/tree/KOG1652 epestfind swissprot:TI17A_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:TI17A_HUMAN garnier swissprot:TI17A_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:TI17A_HUMAN helixturnhelix swissprot:TI17A_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:TI17A_HUMAN hmoment swissprot:TI17A_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:TI17A_HUMAN iep swissprot:TI17A_HUMAN http://rest.g-language.org/emboss/iep/swissprot:TI17A_HUMAN inforesidue swissprot:TI17A_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:TI17A_HUMAN neXtProt NX_Q99595 http://www.nextprot.org/db/entry/NX_Q99595 octanol swissprot:TI17A_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:TI17A_HUMAN pepcoil swissprot:TI17A_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:TI17A_HUMAN pepdigest swissprot:TI17A_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:TI17A_HUMAN pepinfo swissprot:TI17A_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:TI17A_HUMAN pepnet swissprot:TI17A_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:TI17A_HUMAN pepstats swissprot:TI17A_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:TI17A_HUMAN pepwheel swissprot:TI17A_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:TI17A_HUMAN pepwindow swissprot:TI17A_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:TI17A_HUMAN sigcleave swissprot:TI17A_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:TI17A_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS GPHRA_HUMAN Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=B7ZAQ6-1; Sequence=Displayed; Name=2; IsoId=B7ZAQ6-2; Sequence=VSP_017247; Name=3; IsoId=B7ZAQ6-3; Sequence=VSP_039346; Name=4; Synonyms=A; IsoId=B7ZAQ6-4; Sequence=VSP_055892, VSP_055893; # AltName GPHRA_HUMAN Protein GPR89A # AltName GPHRA_HUMAN Putative MAPK-activating protein PM01 # AltName GPHRA_HUMAN Putative NF-kappa-B-activating protein 90 # BioGrid 119554 16 # BioGrid 575849 36 # CCDS CCDS72857 -. [B7ZAQ6-1] # CCDS CCDS72858 -. [B7ZAQ6-3] # ChiTaRS GPR89A human # Ensembl ENST00000313835 ENSP00000319673; ENSG00000117262. [B7ZAQ6-1] # Ensembl ENST00000460277 ENSP00000436705; ENSG00000117262. [B7ZAQ6-4] # Ensembl ENST00000462900 ENSP00000432248; ENSG00000117262. [B7ZAQ6-3] # Ensembl ENST00000528944 ENSP00000434108; ENSG00000117262. [B7ZAQ6-4] # Ensembl ENST00000534502 ENSP00000434495; ENSG00000117262. [B7ZAQ6-3] # ExpressionAtlas B7ZAQ6 baseline and differential # FUNCTION GPHRA_HUMAN Voltage dependent anion channel required for acidification and functions of the Golgi apparatus that may function in counter-ion conductance. {ECO 0000250, ECO 0000269|PubMed 12761501, ECO 0000269|PubMed 18794847}. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0030660 Golgi-associated vesicle membrane; IDA:UniProtKB. # GO_component GO:0032580 Golgi cisterna membrane; IDA:UniProtKB. # GO_function GO:0004871 signal transducer activity; IMP:UniProtKB. # GO_function GO:0008308 voltage-gated anion channel activity; IDA:UniProtKB. # GO_process GO:0015031 protein transport; IEA:UniProtKB-KW. # GO_process GO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling; IMP:UniProtKB. # GO_process GO:0051452 intracellular pH reduction; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # Genevisible B7ZAQ6 HS # HGNC HGNC:31984 GPR89A # IntAct B7ZAQ6 5 # InterPro IPR015672 GPHR/GTG # InterPro IPR022535 Golgi_pH-regulator_cons_dom # InterPro IPR025969 ABA_GPCR_dom # MIM 612821 gene # MISCELLANEOUS GPHRA_HUMAN Does not seem to be able to bind GTP. # Organism GPHRA_HUMAN Homo sapiens (Human) # PANTHER PTHR15948 PTHR15948 # Pfam PF12430 ABA_GPCR # Pfam PF12537 GPHR_N # Proteomes UP000005640 Chromosome 1 # RecName GPHRA_HUMAN Golgi pH regulator A # RefSeq NP_001091081 NM_001097612.1. [B7ZAQ6-1] # RefSeq NP_001091082 NM_001097613.2. [B7ZAQ6-3] # RefSeq NP_057418 NM_016334.3. [B7ZAQ6-1] # RefSeq XP_005277458 XM_005277401.3. [B7ZAQ6-1] # RefSeq XP_005277459 XM_005277402.4. [B7ZAQ6-3] # RefSeq XP_005277461 XM_005277404.3. [B7ZAQ6-2] # RefSeq XP_006711440 XM_006711377.3. [B7ZAQ6-3] # RefSeq XP_006711441 XM_006711378.2. [B7ZAQ6-2] # RefSeq XP_006711555 XM_006711492.3. [B7ZAQ6-1] # RefSeq XP_006711556 XM_006711493.3. [B7ZAQ6-2] # RefSeq XP_011507912 XM_011509610.2. [B7ZAQ6-3] # RefSeq XP_011507914 XM_011509612.2. [B7ZAQ6-2] # RefSeq XP_011508210 XM_011509908.2. [B7ZAQ6-3] # RefSeq XP_011508211 XM_011509909.2. [B7ZAQ6-3] # RefSeq XP_016856937 XM_017001448.1. [B7ZAQ6-3] # SIMILARITY Belongs to the Golgi pH regulator (TC 1.A.38) family. {ECO 0000305}. # SUBCELLULAR LOCATION GPHRA_HUMAN Golgi apparatus membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. # SUBUNIT Homotrimer. {ECO 0000250}. # TISSUE SPECIFICITY Ubiquitous. {ECO:0000269|PubMed 18794847}. # UCSC uc010ozb human. [B7ZAQ6-1] # eggNOG ENOG410XQ8R LUCA # eggNOG KOG2417 Eukaryota BLAST swissprot:GPHRA_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:GPHRA_HUMAN COXPRESdb 51463 http://coxpresdb.jp/data/gene/51463.shtml COXPRESdb 653519 http://coxpresdb.jp/data/gene/653519.shtml DOI 10.1016/j.cell.2008.12.026 http://dx.doi.org/10.1016/j.cell.2008.12.026 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1038/ncb1773 http://dx.doi.org/10.1038/ncb1773 DOI 10.1038/ncomms4650 http://dx.doi.org/10.1038/ncomms4650 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1038/sj.onc.1206406 http://dx.doi.org/10.1038/sj.onc.1206406 DOI 10.1101/gr.10.5.703 http://dx.doi.org/10.1101/gr.10.5.703 DOI 10.1101/gr.1293003 http://dx.doi.org/10.1101/gr.1293003 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AB097024 http://www.ebi.ac.uk/ena/data/view/AB097024 EMBL AB097025 http://www.ebi.ac.uk/ena/data/view/AB097025 EMBL AF132947 http://www.ebi.ac.uk/ena/data/view/AF132947 EMBL AK021758 http://www.ebi.ac.uk/ena/data/view/AK021758 EMBL AK223223 http://www.ebi.ac.uk/ena/data/view/AK223223 EMBL AK297145 http://www.ebi.ac.uk/ena/data/view/AK297145 EMBL AK301939 http://www.ebi.ac.uk/ena/data/view/AK301939 EMBL AK316371 http://www.ebi.ac.uk/ena/data/view/AK316371 EMBL AL390725 http://www.ebi.ac.uk/ena/data/view/AL390725 EMBL AL390725 http://www.ebi.ac.uk/ena/data/view/AL390725 EMBL AL390725 http://www.ebi.ac.uk/ena/data/view/AL390725 EMBL AY358966 http://www.ebi.ac.uk/ena/data/view/AY358966 EMBL BC003187 http://www.ebi.ac.uk/ena/data/view/BC003187 EMBL BC067816 http://www.ebi.ac.uk/ena/data/view/BC067816 EMBL BC146880 http://www.ebi.ac.uk/ena/data/view/BC146880 EMBL BT006679 http://www.ebi.ac.uk/ena/data/view/BT006679 EMBL BX511042 http://www.ebi.ac.uk/ena/data/view/BX511042 EMBL BX511042 http://www.ebi.ac.uk/ena/data/view/BX511042 EMBL BX511042 http://www.ebi.ac.uk/ena/data/view/BX511042 EMBL CR628408 http://www.ebi.ac.uk/ena/data/view/CR628408 EMBL CR628408 http://www.ebi.ac.uk/ena/data/view/CR628408 EMBL CR628408 http://www.ebi.ac.uk/ena/data/view/CR628408 EMBL KJ535049 http://www.ebi.ac.uk/ena/data/view/KJ535049 Ensembl ENST00000313835 http://www.ensembl.org/id/ENST00000313835 Ensembl ENST00000460277 http://www.ensembl.org/id/ENST00000460277 Ensembl ENST00000462900 http://www.ensembl.org/id/ENST00000462900 Ensembl ENST00000528944 http://www.ensembl.org/id/ENST00000528944 Ensembl ENST00000534502 http://www.ensembl.org/id/ENST00000534502 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0030660 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030660 GO_component GO:0032580 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032580 GO_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GO_function GO:0008308 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008308 GO_process GO:0015031 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015031 GO_process GO:0043123 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043123 GO_process GO:0051452 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051452 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GeneCards GPR89A http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=GPR89A GeneID 51463 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=51463 GeneID 653519 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=653519 GeneTree ENSGT00390000000684 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000000684 HGNC HGNC:31984 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:31984 HOVERGEN HBG054909 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG054909&db=HOVERGEN HPA CAB068193 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB068193 InParanoid B7ZAQ6 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=B7ZAQ6 IntAct B7ZAQ6 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=B7ZAQ6* InterPro IPR015672 http://www.ebi.ac.uk/interpro/entry/IPR015672 InterPro IPR022535 http://www.ebi.ac.uk/interpro/entry/IPR022535 InterPro IPR025969 http://www.ebi.ac.uk/interpro/entry/IPR025969 Jabion 51463 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=51463 Jabion 653519 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=653519 KEGG_Gene hsa:51463 http://www.genome.jp/dbget-bin/www_bget?hsa:51463 KEGG_Gene hsa:653519 http://www.genome.jp/dbget-bin/www_bget?hsa:653519 MIM 612821 http://www.ncbi.nlm.nih.gov/omim/612821 MINT MINT-4723292 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-4723292 PANTHER PTHR15948 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR15948 PSORT swissprot:GPHRA_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:GPHRA_HUMAN PSORT-B swissprot:GPHRA_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:GPHRA_HUMAN PSORT2 swissprot:GPHRA_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:GPHRA_HUMAN Pfam PF12430 http://pfam.xfam.org/family/PF12430 Pfam PF12537 http://pfam.xfam.org/family/PF12537 PharmGKB PA134986137 http://www.pharmgkb.org/do/serve?objId=PA134986137&objCls=Gene Phobius swissprot:GPHRA_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:GPHRA_HUMAN PhylomeDB B7ZAQ6 http://phylomedb.org/?seqid=B7ZAQ6 ProteinModelPortal B7ZAQ6 http://www.proteinmodelportal.org/query/uniprot/B7ZAQ6 PubMed 10810093 http://www.ncbi.nlm.nih.gov/pubmed/10810093 PubMed 12761501 http://www.ncbi.nlm.nih.gov/pubmed/12761501 PubMed 12975309 http://www.ncbi.nlm.nih.gov/pubmed/12975309 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 18794847 http://www.ncbi.nlm.nih.gov/pubmed/18794847 PubMed 19135895 http://www.ncbi.nlm.nih.gov/pubmed/19135895 PubMed 24722188 http://www.ncbi.nlm.nih.gov/pubmed/24722188 RefSeq NP_001091081 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001091081 RefSeq NP_001091082 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001091082 RefSeq NP_057418 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_057418 RefSeq XP_005277458 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005277458 RefSeq XP_005277459 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005277459 RefSeq XP_005277461 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005277461 RefSeq XP_006711440 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006711440 RefSeq XP_006711441 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006711441 RefSeq XP_006711555 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006711555 RefSeq XP_006711556 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006711556 RefSeq XP_011507912 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011507912 RefSeq XP_011507914 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011507914 RefSeq XP_011508210 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011508210 RefSeq XP_011508211 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011508211 RefSeq XP_016856937 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016856937 STRING 9606.ENSP00000358233 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000358233&targetmode=cogs UCSC uc010ozb http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc010ozb&org=rat UniGene Hs.504320 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.504320 UniGene Hs.559115 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.559115 UniGene Hs.645432 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.645432 UniGene Hs.680770 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.680770 UniProtKB GPHRA_HUMAN http://www.uniprot.org/uniprot/GPHRA_HUMAN UniProtKB-AC B7ZAQ6 http://www.uniprot.org/uniprot/B7ZAQ6 charge swissprot:GPHRA_HUMAN http://rest.g-language.org/emboss/charge/swissprot:GPHRA_HUMAN eggNOG ENOG410XQ8R http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XQ8R eggNOG KOG2417 http://eggnogapi.embl.de/nog_data/html/tree/KOG2417 epestfind swissprot:GPHRA_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:GPHRA_HUMAN garnier swissprot:GPHRA_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:GPHRA_HUMAN helixturnhelix swissprot:GPHRA_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:GPHRA_HUMAN hmoment swissprot:GPHRA_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:GPHRA_HUMAN iep swissprot:GPHRA_HUMAN http://rest.g-language.org/emboss/iep/swissprot:GPHRA_HUMAN inforesidue swissprot:GPHRA_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:GPHRA_HUMAN neXtProt NX_B7ZAQ6 http://www.nextprot.org/db/entry/NX_B7ZAQ6 octanol swissprot:GPHRA_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:GPHRA_HUMAN pepcoil swissprot:GPHRA_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:GPHRA_HUMAN pepdigest swissprot:GPHRA_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:GPHRA_HUMAN pepinfo swissprot:GPHRA_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:GPHRA_HUMAN pepnet swissprot:GPHRA_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:GPHRA_HUMAN pepstats swissprot:GPHRA_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:GPHRA_HUMAN pepwheel swissprot:GPHRA_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:GPHRA_HUMAN pepwindow swissprot:GPHRA_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:GPHRA_HUMAN sigcleave swissprot:GPHRA_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:GPHRA_HUMAN ## Database ID URL or Descriptions # AltName S13A1_HUMAN Renal sodium/sulfate cotransporter # DrugBank DB00139 Succinic acid # Ensembl ENST00000194130 ENSP00000194130; ENSG00000081800 # ExpressionAtlas Q9BZW2 baseline and differential # FUNCTION S13A1_HUMAN Sodium/sulfate cotransporter that mediates sulfate reabsorption in the kidney. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_function S13A1_HUMAN GO 0015382 sodium sulfate symporter activity; IBA GO_Central. # GO_process GO:0008272 sulfate transport; IBA:GO_Central. # GO_process GO:0035725 sodium ion transmembrane transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0055085 transmembrane transport # Genevisible Q9BZW2 HS # HGNC HGNC:10916 SLC13A1 # INDUCTION S13A1_HUMAN Inhibited by thiosulfate, selenate, molybdate, tungstate, citrate and succinate. # InterPro IPR001898 Na/sul_symport # InterPro IPR031312 Na/sul_symport_CS # KEGG_Brite ko02001 Solute carrier family # MIM 606193 gene # Organism S13A1_HUMAN Homo sapiens (Human) # PROSITE PS01271 NA_SULFATE # Pfam PF00939 Na_sulph_symp # Proteomes UP000005640 Chromosome 7 # Reactome R-HSA-433137 Sodium-coupled sulphate, di- and tri-carboxylate transporters # RecName S13A1_HUMAN Solute carrier family 13 member 1 # RefSeq NP_001311329 NM_001324400.1 # RefSeq NP_071889 NM_022444.3 # SIMILARITY Belongs to the SLC13A/DASS transporter (TC 2.A.47) family. NADC subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION S13A1_HUMAN Membrane; Multi-pass membrane protein. # TCDB 2.A.47.1.16:the divalent anion na(+) symporter (dass) family # TISSUE SPECIFICITY S13A1_HUMAN Highly expressed in kidney; not detectable in the other tissues tested. # UCSC uc003vkm human # eggNOG COG0471 LUCA # eggNOG KOG1281 Eukaryota BLAST swissprot:S13A1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S13A1_HUMAN BioCyc ZFISH:ENSG00000081800-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000081800-MONOMER COXPRESdb 6561 http://coxpresdb.jp/data/gene/6561.shtml CleanEx HS_SLC13A1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC13A1 DOI 10.1006/geno.2000.6404 http://dx.doi.org/10.1006/geno.2000.6404 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DrugBank DB00139 http://www.drugbank.ca/drugs/DB00139 EMBL AF260824 http://www.ebi.ac.uk/ena/data/view/AF260824 EMBL AK026413 http://www.ebi.ac.uk/ena/data/view/AK026413 Ensembl ENST00000194130 http://www.ensembl.org/id/ENST00000194130 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0015382 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015382 GO_process GO:0008272 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008272 GO_process GO:0035725 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035725 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC13A1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC13A1 GeneID 6561 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6561 GeneTree ENSGT00550000074480 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074480 HGNC HGNC:10916 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10916 HOGENOM HOG000278432 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000278432&db=HOGENOM6 HOVERGEN HBG055339 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG055339&db=HOVERGEN HPA HPA053615 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA053615 HPA HPA062714 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA062714 InParanoid Q9BZW2 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9BZW2 InterPro IPR001898 http://www.ebi.ac.uk/interpro/entry/IPR001898 InterPro IPR031312 http://www.ebi.ac.uk/interpro/entry/IPR031312 Jabion 6561 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6561 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:6561 http://www.genome.jp/dbget-bin/www_bget?hsa:6561 KEGG_Orthology KO:K14444 http://www.genome.jp/dbget-bin/www_bget?KO:K14444 MIM 606193 http://www.ncbi.nlm.nih.gov/omim/606193 OMA LPMFGIM http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=LPMFGIM OrthoDB EOG091G092X http://cegg.unige.ch/orthodb/results?searchtext=EOG091G092X PROSITE PS01271 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS01271 PSORT swissprot:S13A1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S13A1_HUMAN PSORT-B swissprot:S13A1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S13A1_HUMAN PSORT2 swissprot:S13A1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S13A1_HUMAN Pfam PF00939 http://pfam.xfam.org/family/PF00939 PharmGKB PA322 http://www.pharmgkb.org/do/serve?objId=PA322&objCls=Gene Phobius swissprot:S13A1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S13A1_HUMAN PhylomeDB Q9BZW2 http://phylomedb.org/?seqid=Q9BZW2 ProteinModelPortal Q9BZW2 http://www.proteinmodelportal.org/query/uniprot/Q9BZW2 PubMed 11161786 http://www.ncbi.nlm.nih.gov/pubmed/11161786 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 Reactome R-HSA-433137 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-433137 RefSeq NP_001311329 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001311329 RefSeq NP_071889 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_071889 STRING 9606.ENSP00000194130 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000194130&targetmode=cogs TCDB 2.A.47.1.16 http://www.tcdb.org/search/result.php?tc=2.A.47.1.16 UCSC uc003vkm http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003vkm&org=rat UniGene Hs.489849 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.489849 UniProtKB S13A1_HUMAN http://www.uniprot.org/uniprot/S13A1_HUMAN UniProtKB-AC Q9BZW2 http://www.uniprot.org/uniprot/Q9BZW2 charge swissprot:S13A1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S13A1_HUMAN eggNOG COG0471 http://eggnogapi.embl.de/nog_data/html/tree/COG0471 eggNOG KOG1281 http://eggnogapi.embl.de/nog_data/html/tree/KOG1281 epestfind swissprot:S13A1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S13A1_HUMAN garnier swissprot:S13A1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S13A1_HUMAN helixturnhelix swissprot:S13A1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S13A1_HUMAN hmoment swissprot:S13A1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S13A1_HUMAN iep swissprot:S13A1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S13A1_HUMAN inforesidue swissprot:S13A1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S13A1_HUMAN neXtProt NX_Q9BZW2 http://www.nextprot.org/db/entry/NX_Q9BZW2 octanol swissprot:S13A1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S13A1_HUMAN pepcoil swissprot:S13A1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S13A1_HUMAN pepdigest swissprot:S13A1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S13A1_HUMAN pepinfo swissprot:S13A1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S13A1_HUMAN pepnet swissprot:S13A1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S13A1_HUMAN pepstats swissprot:S13A1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S13A1_HUMAN pepwheel swissprot:S13A1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S13A1_HUMAN pepwindow swissprot:S13A1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S13A1_HUMAN sigcleave swissprot:S13A1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S13A1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS SURF1_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q15526-1; Sequence=Displayed; Name=2; IsoId=Q15526-2; Sequence=VSP_034817; Note=No experimental confirmation available.; # BioGrid 112701 23 # CCDS CCDS6966 -. [Q15526-1] # CDD cd06662 SURF1 # DISEASE SURF1_HUMAN Charcot-Marie-Tooth disease 4K (CMT4K) [MIM 616684] An autosomal recessive, demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4. CMT4K patients manifest upper and lower limbs involvement. Some affected individuals have nystagmus and late-onset cerebellar ataxia. {ECO 0000269|PubMed 24027061}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE SURF1_HUMAN Leigh syndrome (LS) [MIM 256000] An early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia. {ECO 0000269|PubMed 10647889, ECO 0000269|PubMed 10746561, ECO 0000269|PubMed 14564068, ECO 0000269|PubMed 21937992, ECO 0000269|PubMed 22410471, ECO 0000269|PubMed 22488715, ECO 0000269|PubMed 9843204}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000371974 ENSP00000361042; ENSG00000148290. [Q15526-1] # Ensembl ENST00000626663 ENSP00000487158; ENSG00000280627. [Q15526-1] # ExpressionAtlas Q15526 baseline and differential # FUNCTION SURF1_HUMAN Component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, that regulates cytochrome c oxidase assembly. {ECO 0000269|PubMed 24027061, ECO 0000269|PubMed 9843204, ECO 0000305|PubMed 26321642}. # GO_component GO:0005746 mitochondrial respiratory chain; TAS:ProtInc. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0004129 cytochrome-c oxidase activity; TAS:ProtInc. # GO_process GO:0006119 oxidative phosphorylation; IMP:BHF-UCL. # GO_process GO:0006754 ATP biosynthetic process; IMP:BHF-UCL. # GO_process GO:0008535 respiratory chain complex IV assembly; TAS:ProtInc. # GO_process GO:0009060 aerobic respiration; TAS:ProtInc. # GO_process GO:0033617 mitochondrial respiratory chain complex IV assembly; IMP:UniProtKB. # GO_process GO:0055114 oxidation-reduction process; TAS:ProtInc. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0016491 oxidoreductase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006091 generation of precursor metabolites and energy # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0008150 biological_process # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0044281 small molecule metabolic process # Genevisible Q15526 HS # HGNC HGNC:11474 SURF1 # INTERACTION SURF1_HUMAN Q9Y2R0 COA3; NbExp=6; IntAct=EBI-3915286, EBI-6570446; # IntAct Q15526 6 # InterPro IPR002994 Surf1/Shy1 # KEGG_Disease H01354 [Inherited metabolic disease; Neurodegenerative disease; Mitochondrial disease] X-linked Leigh syndrome # KEGG_Disease H01368:[Inherited metabolic disease; Mitochondrial disease] Leber Hereditary Optic Neuropathy (LHON) [DS H00068] # MIM 185620 gene # MIM 256000 phenotype # MIM 616684 phenotype # Organism SURF1_HUMAN Homo sapiens (Human) # Orphanet 1561 Fatal infantile cytochrome C oxidase deficiency # Orphanet 255241 Leigh syndrome with leukodystrophy # Orphanet 391351 SURF1-related Charcot-Marie-Tooth disease type 4 # Orphanet 70474 Leigh syndrome with cardiomyopathy # PIR S57749 S57749 # PROSITE PS50895 SURF1 # Pfam PF02104 SURF1 # Proteomes UP000005640 Chromosome 9 # Reactome R-HSA-5628897 TP53 Regulates Metabolic Genes # Reactome R-HSA-611105 Respiratory electron transport # RecName SURF1_HUMAN Surfeit locus protein 1 # RefSeq NP_001267716 NM_001280787.1 # RefSeq NP_003163 NM_003172.3. [Q15526-1] # SIMILARITY Belongs to the SURF1 family. {ECO 0000305}. # SUBCELLULAR LOCATION SURF1_HUMAN Mitochondrion inner membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. # SUBUNIT Component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, the core components of this complex being COA3/MITRAC12 and COX14. Interacts with COA3. {ECO:0000269|PubMed 26321642}. # UCSC uc004cdh human. [Q15526-1] # WEB RESOURCE SURF1_HUMAN Name=Surfeit 1 (SURF1); Note=Leiden Open Variation Database (LOVD); URL="http //www.lovd.nl/SURF1"; # eggNOG COG3346 LUCA # eggNOG ENOG410KC4M Eukaryota BLAST swissprot:SURF1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SURF1_HUMAN BioCyc ZFISH:ENSG00000148290-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000148290-MONOMER COG COG3346 http://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=COG3346 COXPRESdb 6834 http://coxpresdb.jp/data/gene/6834.shtml CleanEx HS_SURF1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SURF1 DOI 10.1002/humu.1112.abs http://dx.doi.org/10.1002/humu.1112.abs DOI 10.1002/humu.22095 http://dx.doi.org/10.1002/humu.22095 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1007/s004390051028 http://dx.doi.org/10.1007/s004390051028 DOI 10.1007/s004399900191 http://dx.doi.org/10.1007/s004399900191 DOI 10.1016/j.braindev.2012.02.007 http://dx.doi.org/10.1016/j.braindev.2012.02.007 DOI 10.1016/j.celrep.2015.08.009 http://dx.doi.org/10.1016/j.celrep.2015.08.009 DOI 10.1038/3804 http://dx.doi.org/10.1038/3804 DOI 10.1038/nature02465 http://dx.doi.org/10.1038/nature02465 DOI 10.1038/nature10423 http://dx.doi.org/10.1038/nature10423 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1089/dna.1994.13.1117 http://dx.doi.org/10.1089/dna.1994.13.1117 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1133427 http://dx.doi.org/10.1126/science.1133427 DOI 10.1212/WNL.0b013e3182a4a518 http://dx.doi.org/10.1212/WNL.0b013e3182a4a518 EMBL AK291122 http://www.ebi.ac.uk/ena/data/view/AK291122 EMBL AL158826 http://www.ebi.ac.uk/ena/data/view/AL158826 EMBL AL158826 http://www.ebi.ac.uk/ena/data/view/AL158826 EMBL BC028314 http://www.ebi.ac.uk/ena/data/view/BC028314 EMBL BC071658 http://www.ebi.ac.uk/ena/data/view/BC071658 EMBL Z35093 http://www.ebi.ac.uk/ena/data/view/Z35093 Ensembl ENST00000371974 http://www.ensembl.org/id/ENST00000371974 Ensembl ENST00000626663 http://www.ensembl.org/id/ENST00000626663 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005746 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005746 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0004129 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004129 GO_process GO:0006119 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006119 GO_process GO:0006754 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006754 GO_process GO:0008535 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008535 GO_process GO:0009060 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009060 GO_process GO:0033617 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033617 GO_process GO:0055114 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055114 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0016491 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016491 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006091 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GeneCards SURF1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SURF1 GeneID 6834 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6834 GeneTree ENSGT00530000064194 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000064194 HGNC HGNC:11474 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11474 HOGENOM HOG000097776 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000097776&db=HOGENOM6 HOVERGEN HBG058486 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG058486&db=HOVERGEN HPA CAB033946 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB033946 HPA HPA021029 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA021029 InParanoid Q15526 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q15526 IntAct Q15526 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q15526* InterPro IPR002994 http://www.ebi.ac.uk/interpro/entry/IPR002994 Jabion 6834 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6834 KEGG_Disease H01354 http://www.genome.jp/dbget-bin/www_bget?H01354 KEGG_Disease H01368 http://www.genome.jp/dbget-bin/www_bget?H01368 KEGG_Gene hsa:6834 http://www.genome.jp/dbget-bin/www_bget?hsa:6834 KEGG_Orthology KO:K14998 http://www.genome.jp/dbget-bin/www_bget?KO:K14998 MIM 185620 http://www.ncbi.nlm.nih.gov/omim/185620 MIM 256000 http://www.ncbi.nlm.nih.gov/omim/256000 MIM 616684 http://www.ncbi.nlm.nih.gov/omim/616684 OMA HWYYRDL http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=HWYYRDL Orphanet 1561 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1561 Orphanet 255241 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=255241 Orphanet 391351 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=391351 Orphanet 70474 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=70474 OrthoDB EOG091G0IWR http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0IWR PROSITE PS50895 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50895 PSORT swissprot:SURF1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SURF1_HUMAN PSORT-B swissprot:SURF1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SURF1_HUMAN PSORT2 swissprot:SURF1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SURF1_HUMAN Pfam PF02104 http://pfam.xfam.org/family/PF02104 PharmGKB PA36259 http://www.pharmgkb.org/do/serve?objId=PA36259&objCls=Gene Phobius swissprot:SURF1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SURF1_HUMAN PhylomeDB Q15526 http://phylomedb.org/?seqid=Q15526 ProteinModelPortal Q15526 http://www.proteinmodelportal.org/query/uniprot/Q15526 PubMed 10647889 http://www.ncbi.nlm.nih.gov/pubmed/10647889 PubMed 10746561 http://www.ncbi.nlm.nih.gov/pubmed/10746561 PubMed 11317352 http://www.ncbi.nlm.nih.gov/pubmed/11317352 PubMed 14564068 http://www.ncbi.nlm.nih.gov/pubmed/14564068 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15164053 http://www.ncbi.nlm.nih.gov/pubmed/15164053 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16959974 http://www.ncbi.nlm.nih.gov/pubmed/16959974 PubMed 21937992 http://www.ncbi.nlm.nih.gov/pubmed/21937992 PubMed 22410471 http://www.ncbi.nlm.nih.gov/pubmed/22410471 PubMed 22488715 http://www.ncbi.nlm.nih.gov/pubmed/22488715 PubMed 24027061 http://www.ncbi.nlm.nih.gov/pubmed/24027061 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 26321642 http://www.ncbi.nlm.nih.gov/pubmed/26321642 PubMed 7702754 http://www.ncbi.nlm.nih.gov/pubmed/7702754 PubMed 9843204 http://www.ncbi.nlm.nih.gov/pubmed/9843204 Reactome R-HSA-5628897 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5628897 Reactome R-HSA-611105 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-611105 RefSeq NP_001267716 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001267716 RefSeq NP_003163 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_003163 STRING 9606.ENSP00000361042 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000361042&targetmode=cogs STRING COG3346 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=COG3346&targetmode=cogs UCSC uc004cdh http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc004cdh&org=rat UniGene Hs.512464 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.512464 UniProtKB SURF1_HUMAN http://www.uniprot.org/uniprot/SURF1_HUMAN UniProtKB-AC Q15526 http://www.uniprot.org/uniprot/Q15526 charge swissprot:SURF1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SURF1_HUMAN eggNOG COG3346 http://eggnogapi.embl.de/nog_data/html/tree/COG3346 eggNOG ENOG410KC4M http://eggnogapi.embl.de/nog_data/html/tree/ENOG410KC4M epestfind swissprot:SURF1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SURF1_HUMAN garnier swissprot:SURF1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SURF1_HUMAN helixturnhelix swissprot:SURF1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SURF1_HUMAN hmoment swissprot:SURF1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SURF1_HUMAN iep swissprot:SURF1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SURF1_HUMAN inforesidue swissprot:SURF1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SURF1_HUMAN neXtProt NX_Q15526 http://www.nextprot.org/db/entry/NX_Q15526 octanol swissprot:SURF1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SURF1_HUMAN pepcoil swissprot:SURF1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SURF1_HUMAN pepdigest swissprot:SURF1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SURF1_HUMAN pepinfo swissprot:SURF1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SURF1_HUMAN pepnet swissprot:SURF1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SURF1_HUMAN pepstats swissprot:SURF1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SURF1_HUMAN pepwheel swissprot:SURF1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SURF1_HUMAN pepwindow swissprot:SURF1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SURF1_HUMAN sigcleave swissprot:SURF1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SURF1_HUMAN ## Database ID URL or Descriptions # AltName COX7C_HUMAN Cytochrome c oxidase polypeptide VIIc # BioGrid 107743 2 # CDD cd00929 Cyt_c_Oxidase_VIIc # DrugBank DB02659 Cholic Acid # Ensembl ENST00000247655 ENSP00000247655; ENSG00000127184 # Ensembl ENST00000509578 ENSP00000425759; ENSG00000127184 # ExpressionAtlas P15954 baseline and differential # FUNCTION COX7C_HUMAN This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport. # GO_component GO:0005739 mitochondrion; IDA:UniProtKB. # GO_component GO:0005743 mitochondrial inner membrane; TAS:Reactome. # GO_component GO:0005751 mitochondrial respiratory chain complex IV; IBA:GO_Central. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0004129 cytochrome-c oxidase activity; IEA:InterPro. # GO_process GO:0006091 generation of precursor metabolites and energy; TAS:ProtInc. # GO_process GO:0006123 mitochondrial electron transport, cytochrome c to oxygen; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005739 mitochondrion # GOslim_component GO:0043234 protein complex # GOslim_function GO:0016491 oxidoreductase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006091 generation of precursor metabolites and energy # Gene3D 4.10.49.10 -; 1. # Genevisible P15954 HS # HGNC HGNC:2292 COX7C # IntAct P15954 3 # InterPro IPR004202 COX7C/Cox8 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Pathway ko00190 Oxidative phosphorylation # KEGG_Pathway ko04260 Cardiac muscle contraction # KEGG_Pathway ko05010 Alzheimer's disease # KEGG_Pathway ko05012 Parkinson's disease # KEGG_Pathway ko05016 Huntington's disease # MIM 603774 gene # Organism COX7C_HUMAN Homo sapiens (Human) # PIR S15763 OSHU7C # Pfam PF02935 COX7C # Proteomes UP000005640 Chromosome 5 # Reactome R-HSA-5628897 TP53 Regulates Metabolic Genes # Reactome R-HSA-611105 Respiratory electron transport # RecName COX7C_HUMAN Cytochrome c oxidase subunit 7C, mitochondrial # RefSeq NP_001858 NM_001867.2 # SIMILARITY Belongs to the cytochrome c oxidase VIIc family. {ECO 0000305}. # SUBCELLULAR LOCATION COX7C_HUMAN Mitochondrion inner membrane {ECO 0000250}. # SUPFAM SSF81427 SSF81427 # TCDB 3.D.4.11 the proton-translocating cytochrome oxidase (cox) superfamily # UCSC uc003kir human # eggNOG ENOG4112B97 LUCA # eggNOG KOG4527 Eukaryota BLAST swissprot:COX7C_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:COX7C_HUMAN BioCyc ZFISH:HS05077-MONOMER http://biocyc.org/getid?id=ZFISH:HS05077-MONOMER COXPRESdb 1350 http://coxpresdb.jp/data/gene/1350.shtml CleanEx HS_COX7C http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_COX7C DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1093/nar/18.3.684 http://dx.doi.org/10.1093/nar/18.3.684 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1432-1033.1992.tb19847.x http://dx.doi.org/10.1111/j.1432-1033.1992.tb19847.x DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DrugBank DB02659 http://www.drugbank.ca/drugs/DB02659 EMBL AF067638 http://www.ebi.ac.uk/ena/data/view/AF067638 EMBL AF067639 http://www.ebi.ac.uk/ena/data/view/AF067639 EMBL BC001005 http://www.ebi.ac.uk/ena/data/view/BC001005 EMBL BC007498 http://www.ebi.ac.uk/ena/data/view/BC007498 EMBL BT007098 http://www.ebi.ac.uk/ena/data/view/BT007098 EMBL X16560 http://www.ebi.ac.uk/ena/data/view/X16560 Ensembl ENST00000247655 http://www.ensembl.org/id/ENST00000247655 Ensembl ENST00000509578 http://www.ensembl.org/id/ENST00000509578 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0005751 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005751 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0004129 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004129 GO_process GO:0006091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006091 GO_process GO:0006123 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006123 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0016491 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016491 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006091 Gene3D 4.10.49.10 http://www.cathdb.info/version/latest/superfamily/4.10.49.10 GeneCards COX7C http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=COX7C GeneID 1350 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=1350 GeneTree ENSGT00390000018086 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000018086 HGNC HGNC:2292 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:2292 HOGENOM HOG000237276 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000237276&db=HOGENOM6 HOVERGEN HBG051093 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG051093&db=HOVERGEN HPA HPA046647 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA046647 InParanoid P15954 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P15954 IntAct P15954 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P15954* InterPro IPR004202 http://www.ebi.ac.uk/interpro/entry/IPR004202 Jabion 1350 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=1350 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00002 http://www.genome.jp/dbget-bin/www_bget?ko00002 KEGG_Gene hsa:1350 http://www.genome.jp/dbget-bin/www_bget?hsa:1350 KEGG_Orthology KO:K02272 http://www.genome.jp/dbget-bin/www_bget?KO:K02272 KEGG_Pathway ko00190 http://www.genome.jp/kegg-bin/show_pathway?ko00190 KEGG_Pathway ko04260 http://www.genome.jp/kegg-bin/show_pathway?ko04260 KEGG_Pathway ko05010 http://www.genome.jp/kegg-bin/show_pathway?ko05010 KEGG_Pathway ko05012 http://www.genome.jp/kegg-bin/show_pathway?ko05012 KEGG_Pathway ko05016 http://www.genome.jp/kegg-bin/show_pathway?ko05016 MIM 603774 http://www.ncbi.nlm.nih.gov/omim/603774 OMA VRHQILK http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=VRHQILK OrthoDB EOG091G16OJ http://cegg.unige.ch/orthodb/results?searchtext=EOG091G16OJ PSORT swissprot:COX7C_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:COX7C_HUMAN PSORT-B swissprot:COX7C_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:COX7C_HUMAN PSORT2 swissprot:COX7C_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:COX7C_HUMAN Pfam PF02935 http://pfam.xfam.org/family/PF02935 PharmGKB PA26812 http://www.pharmgkb.org/do/serve?objId=PA26812&objCls=Gene Phobius swissprot:COX7C_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:COX7C_HUMAN PhylomeDB P15954 http://phylomedb.org/?seqid=P15954 ProteinModelPortal P15954 http://www.proteinmodelportal.org/query/uniprot/P15954 PubMed 10072584 http://www.ncbi.nlm.nih.gov/pubmed/10072584 PubMed 1309697 http://www.ncbi.nlm.nih.gov/pubmed/1309697 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 2155413 http://www.ncbi.nlm.nih.gov/pubmed/2155413 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 Reactome R-HSA-5628897 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5628897 Reactome R-HSA-611105 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-611105 RefSeq NP_001858 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001858 SMR P15954 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P15954 STRING 9606.ENSP00000247655 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000247655&targetmode=cogs SUPFAM SSF81427 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81427 TCDB 3.D.4.11 http://www.tcdb.org/search/result.php?tc=3.D.4.11 UCSC uc003kir http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003kir&org=rat UniGene Hs.430075 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.430075 UniProtKB COX7C_HUMAN http://www.uniprot.org/uniprot/COX7C_HUMAN UniProtKB-AC P15954 http://www.uniprot.org/uniprot/P15954 charge swissprot:COX7C_HUMAN http://rest.g-language.org/emboss/charge/swissprot:COX7C_HUMAN eggNOG ENOG4112B97 http://eggnogapi.embl.de/nog_data/html/tree/ENOG4112B97 eggNOG KOG4527 http://eggnogapi.embl.de/nog_data/html/tree/KOG4527 epestfind swissprot:COX7C_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:COX7C_HUMAN garnier swissprot:COX7C_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:COX7C_HUMAN helixturnhelix swissprot:COX7C_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:COX7C_HUMAN hmoment swissprot:COX7C_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:COX7C_HUMAN iep swissprot:COX7C_HUMAN http://rest.g-language.org/emboss/iep/swissprot:COX7C_HUMAN inforesidue swissprot:COX7C_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:COX7C_HUMAN neXtProt NX_P15954 http://www.nextprot.org/db/entry/NX_P15954 octanol swissprot:COX7C_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:COX7C_HUMAN pepcoil swissprot:COX7C_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:COX7C_HUMAN pepdigest swissprot:COX7C_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:COX7C_HUMAN pepinfo swissprot:COX7C_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:COX7C_HUMAN pepnet swissprot:COX7C_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:COX7C_HUMAN pepstats swissprot:COX7C_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:COX7C_HUMAN pepwheel swissprot:COX7C_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:COX7C_HUMAN pepwindow swissprot:COX7C_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:COX7C_HUMAN sigcleave swissprot:COX7C_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:COX7C_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS SO4A1_HUMAN Event=Alternative splicing; Named isoforms=4; Comment=Experimental confirmation may be lacking for some isoforms.; Name=1; IsoId=Q96BD0-1; Sequence=Displayed; Name=2; IsoId=Q96BD0-2; Sequence=VSP_006152, VSP_006156; Name=3; IsoId=Q96BD0-3; Sequence=VSP_006153, VSP_006155; Name=4; IsoId=Q96BD0-4; Sequence=VSP_006154; # AltName SO4A1_HUMAN Colon organic anion transporter # AltName SO4A1_HUMAN Organic anion transporter polypeptide-related protein 1 # AltName SO4A1_HUMAN Organic anion-transporting polypeptide E # AltName SO4A1_HUMAN Sodium-independent organic anion transporter E # AltName SO4A1_HUMAN Solute carrier family 21 member 12 # BioGrid 118180 4 # CCDS CCDS13501 -. [Q96BD0-1] # CDD cd06174 MFS # ChiTaRS SLCO4A1 human # DrugBank DB00279 Liothyronine # DrugBank DB00286 Conjugated Estrogens # DrugBank DB00390 Digoxin # DrugBank DB00451 Levothyroxine # DrugBank DB00509 Dextrothyroxine # DrugBank DB00783 Estradiol # DrugBank DB00917 Dinoprostone # DrugBank DB01053 Benzylpenicillin # DrugBank DB01583 Liotrix # Ensembl ENST00000217159 ENSP00000217159; ENSG00000101187. [Q96BD0-1] # Ensembl ENST00000370507 ENSP00000359538; ENSG00000101187. [Q96BD0-1] # ExpressionAtlas Q96BD0 baseline and differential # FUNCTION SO4A1_HUMAN Mediates the Na(+)-independent transport of organic anions such as the thyroid hormones T3 (triiodo-L-thyronine), T4 (thyroxine) and rT3, and of estrone-3-sulfate and taurocholate. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_function GO:0015347 sodium-independent organic anion transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015349 thyroid hormone transmembrane transporter activity; IBA:GO_Central. # GO_process GO:0043252 sodium-independent organic anion transport; IBA:GO_Central. # GO_process GO:0070327 thyroid hormone transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # Genevisible Q96BD0 HS # HGNC HGNC:10953 SLCO4A1 # IntAct Q96BD0 5 # InterPro IPR002350 Kazal_dom # InterPro IPR004156 OA_transporter # InterPro IPR020846 MFS_dom # KEGG_Brite ko02001 Solute carrier family # MIM 612436 gene # Organism SO4A1_HUMAN Homo sapiens (Human) # PANTHER PTHR11388 PTHR11388 # PROSITE PS50850 MFS # PROSITE PS51465 KAZAL_2 # Pfam PF03137 OATP # Pfam PF07648 Kazal_2 # Proteomes UP000005640 Chromosome 20 # Reactome R-HSA-879518 Transport of organic anions # RecName SO4A1_HUMAN Solute carrier organic anion transporter family member 4A1 # RefSeq NP_057438 NM_016354.3. [Q96BD0-1] # SEQUENCE CAUTION Sequence=BAA91247.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the organo anion transporter (TC 2.A.60) family. {ECO 0000305}. # SIMILARITY Contains 1 Kazal-like domain. {ECO:0000255|PROSITE- ProRule PRU00798}. # SUBCELLULAR LOCATION SO4A1_HUMAN Cell membrane; Multi-pass membrane protein. # SUPFAM SSF103473 SSF103473; 3 # TCDB 2.A.60.1 the organo anion transporter (oat) family # TIGRFAMs TIGR00805 oat # TISSUE SPECIFICITY SO4A1_HUMAN Ubiquitous, with the exception of spleen and leukocytes. # UCSC uc002ydb human. [Q96BD0-1] # eggNOG ENOG410XRSF LUCA # eggNOG KOG3626 Eukaryota BLAST swissprot:SO4A1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SO4A1_HUMAN BioCyc ZFISH:ENSG00000101187-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000101187-MONOMER COXPRESdb 28231 http://coxpresdb.jp/data/gene/28231.shtml CleanEx HS_SLCO4A1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLCO4A1 DOI 10.1006/bbrc.2000.2922 http://dx.doi.org/10.1006/bbrc.2000.2922 DOI 10.1016/j.molcel.2008.07.007 http://dx.doi.org/10.1016/j.molcel.2008.07.007 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/414865a http://dx.doi.org/10.1038/414865a DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 DOI 10.1210/endo.142.5.8115 http://dx.doi.org/10.1210/endo.142.5.8115 DrugBank DB00279 http://www.drugbank.ca/drugs/DB00279 DrugBank DB00286 http://www.drugbank.ca/drugs/DB00286 DrugBank DB00390 http://www.drugbank.ca/drugs/DB00390 DrugBank DB00451 http://www.drugbank.ca/drugs/DB00451 DrugBank DB00509 http://www.drugbank.ca/drugs/DB00509 DrugBank DB00783 http://www.drugbank.ca/drugs/DB00783 DrugBank DB00917 http://www.drugbank.ca/drugs/DB00917 DrugBank DB01053 http://www.drugbank.ca/drugs/DB01053 DrugBank DB01583 http://www.drugbank.ca/drugs/DB01583 EMBL AB031051 http://www.ebi.ac.uk/ena/data/view/AB031051 EMBL AF104334 http://www.ebi.ac.uk/ena/data/view/AF104334 EMBL AF187817 http://www.ebi.ac.uk/ena/data/view/AF187817 EMBL AF205072 http://www.ebi.ac.uk/ena/data/view/AF205072 EMBL AK000551 http://www.ebi.ac.uk/ena/data/view/AK000551 EMBL AK023410 http://www.ebi.ac.uk/ena/data/view/AK023410 EMBL AL357033 http://www.ebi.ac.uk/ena/data/view/AL357033 EMBL AL357033 http://www.ebi.ac.uk/ena/data/view/AL357033 EMBL BC015727 http://www.ebi.ac.uk/ena/data/view/BC015727 Ensembl ENST00000217159 http://www.ensembl.org/id/ENST00000217159 Ensembl ENST00000370507 http://www.ensembl.org/id/ENST00000370507 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0015347 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015347 GO_function GO:0015349 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015349 GO_process GO:0043252 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043252 GO_process GO:0070327 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070327 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GeneCards SLCO4A1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLCO4A1 GeneID 28231 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=28231 GeneTree ENSGT00760000119014 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119014 H-InvDB HIX0015985 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0015985 H-InvDB HIX0138058 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0138058 HGNC HGNC:10953 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10953 HOVERGEN HBG100565 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG100565&db=HOVERGEN HPA HPA030669 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA030669 HPA HPA030670 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA030670 InParanoid Q96BD0 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q96BD0 IntAct Q96BD0 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q96BD0* InterPro IPR002350 http://www.ebi.ac.uk/interpro/entry/IPR002350 InterPro IPR004156 http://www.ebi.ac.uk/interpro/entry/IPR004156 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 28231 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=28231 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:28231 http://www.genome.jp/dbget-bin/www_bget?hsa:28231 KEGG_Orthology KO:K14354 http://www.genome.jp/dbget-bin/www_bget?KO:K14354 MIM 612436 http://www.ncbi.nlm.nih.gov/omim/612436 OMA GPNSAME http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=GPNSAME OrthoDB EOG091G02FX http://cegg.unige.ch/orthodb/results?searchtext=EOG091G02FX PANTHER PTHR11388 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11388 PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PROSITE PS51465 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51465 PSORT swissprot:SO4A1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SO4A1_HUMAN PSORT-B swissprot:SO4A1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SO4A1_HUMAN PSORT2 swissprot:SO4A1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SO4A1_HUMAN Pfam PF03137 http://pfam.xfam.org/family/PF03137 Pfam PF07648 http://pfam.xfam.org/family/PF07648 PharmGKB PA35838 http://www.pharmgkb.org/do/serve?objId=PA35838&objCls=Gene Phobius swissprot:SO4A1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SO4A1_HUMAN PhylomeDB Q96BD0 http://phylomedb.org/?seqid=Q96BD0 ProteinModelPortal Q96BD0 http://www.proteinmodelportal.org/query/uniprot/Q96BD0 PubMed 10873595 http://www.ncbi.nlm.nih.gov/pubmed/10873595 PubMed 11316767 http://www.ncbi.nlm.nih.gov/pubmed/11316767 PubMed 11780052 http://www.ncbi.nlm.nih.gov/pubmed/11780052 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 18691976 http://www.ncbi.nlm.nih.gov/pubmed/18691976 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 Reactome R-HSA-879518 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-879518 RefSeq NP_057438 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_057438 STRING 9606.ENSP00000217159 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000217159&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.60.1 http://www.tcdb.org/search/result.php?tc=2.A.60.1 TIGRFAMs TIGR00805 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00805 UCSC uc002ydb http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002ydb&org=rat UniGene Hs.235782 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.235782 UniProtKB SO4A1_HUMAN http://www.uniprot.org/uniprot/SO4A1_HUMAN UniProtKB-AC Q96BD0 http://www.uniprot.org/uniprot/Q96BD0 charge swissprot:SO4A1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SO4A1_HUMAN eggNOG ENOG410XRSF http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XRSF eggNOG KOG3626 http://eggnogapi.embl.de/nog_data/html/tree/KOG3626 epestfind swissprot:SO4A1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SO4A1_HUMAN garnier swissprot:SO4A1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SO4A1_HUMAN helixturnhelix swissprot:SO4A1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SO4A1_HUMAN hmoment swissprot:SO4A1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SO4A1_HUMAN iep swissprot:SO4A1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SO4A1_HUMAN inforesidue swissprot:SO4A1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SO4A1_HUMAN neXtProt NX_Q96BD0 http://www.nextprot.org/db/entry/NX_Q96BD0 octanol swissprot:SO4A1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SO4A1_HUMAN pepcoil swissprot:SO4A1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SO4A1_HUMAN pepdigest swissprot:SO4A1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SO4A1_HUMAN pepinfo swissprot:SO4A1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SO4A1_HUMAN pepnet swissprot:SO4A1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SO4A1_HUMAN pepstats swissprot:SO4A1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SO4A1_HUMAN pepwheel swissprot:SO4A1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SO4A1_HUMAN pepwindow swissprot:SO4A1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SO4A1_HUMAN sigcleave swissprot:SO4A1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SO4A1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS ODC_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9BQT8-1; Sequence=Displayed; Name=2; IsoId=Q9BQT8-2; Sequence=VSP_046690; # AltName ODC_HUMAN Solute carrier family 25 member 21 # BioGrid 124629 5 # CCDS CCDS55913 -. [Q9BQT8-2] # CCDS CCDS9663 -. [Q9BQT8-1] # Ensembl ENST00000331299 ENSP00000329452; ENSG00000183032. [Q9BQT8-1] # Ensembl ENST00000555449 ENSP00000451873; ENSG00000183032. [Q9BQT8-2] # FUNCTION ODC_HUMAN Transports C5-C7 oxodicarboxylates across the inner membranes of mitochondria. Can transport 2-oxoadipate, 2- oxoglutarate, adipate, glutarate, and to a lesser extent, pimelate, 2-oxopimelate, 2-aminoadipate, oxaloacetate, and citrate. # GO_component GO:0005743 mitochondrial inner membrane; TAS:Reactome. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0015139 alpha-ketoglutarate transmembrane transporter activity; TAS:Reactome. # GO_process GO:0006554 lysine catabolic process; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006520 cellular amino acid metabolic process # GOslim_process GO:0009056 catabolic process # Gene3D 1.50.40.10 -; 1. # Genevisible Q9BQT8 HS # HGNC HGNC:14411 SLC25A21 # IntAct Q9BQT8 2 # InterPro IPR002067 Mit_carrier # InterPro IPR018108 Mitochondrial_sb/sol_carrier # InterPro IPR023395 Mt_carrier_dom # KEGG_Brite ko02001 Solute carrier family # MIM 607571 gene # Organism ODC_HUMAN Homo sapiens (Human) # PRINTS PR00926 MITOCARRIER # PROSITE PS50920 SOLCAR; 3 # Pfam PF00153 Mito_carr; 3 # Proteomes UP000005640 Chromosome 14 # Reactome R-HSA-71064 Lysine catabolism # RecName ODC_HUMAN Mitochondrial 2-oxodicarboxylate carrier # RefSeq NP_001164641 NM_001171170.1. [Q9BQT8-2] # RefSeq NP_085134 NM_030631.3. [Q9BQT8-1] # SIMILARITY Belongs to the mitochondrial carrier (TC 2.A.29) family. {ECO 0000305}. # SIMILARITY Contains 3 Solcar repeats. {ECO:0000255|PROSITE- ProRule PRU00282}. # SUBCELLULAR LOCATION ODC_HUMAN Mitochondrion inner membrane; Multi-pass membrane protein. # SUPFAM SSF103506 SSF103506 # TCDB 2.A.29.2 the mitochondrial carrier (mc) family # TISSUE SPECIFICITY Ubiquitous. {ECO:0000269|PubMed 11083877}. # UCSC uc001wtz human. [Q9BQT8-1] # eggNOG ENOG410XRZG LUCA # eggNOG KOG0754 Eukaryota BLAST swissprot:ODC_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ODC_HUMAN BioCyc ZFISH:G66-32919-MONOMER http://biocyc.org/getid?id=ZFISH:G66-32919-MONOMER COXPRESdb 89874 http://coxpresdb.jp/data/gene/89874.shtml CleanEx HS_SLC25A21 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC25A21 DOI 10.1038/nature01348 http://dx.doi.org/10.1038/nature01348 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.M009607200 http://dx.doi.org/10.1074/jbc.M009607200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AJ278148 http://www.ebi.ac.uk/ena/data/view/AJ278148 EMBL AK289575 http://www.ebi.ac.uk/ena/data/view/AK289575 EMBL AL079303 http://www.ebi.ac.uk/ena/data/view/AL079303 EMBL AL079304 http://www.ebi.ac.uk/ena/data/view/AL079304 EMBL AL121775 http://www.ebi.ac.uk/ena/data/view/AL121775 EMBL AL162464 http://www.ebi.ac.uk/ena/data/view/AL162464 EMBL BC101521 http://www.ebi.ac.uk/ena/data/view/BC101521 EMBL BC113365 http://www.ebi.ac.uk/ena/data/view/BC113365 Ensembl ENST00000331299 http://www.ensembl.org/id/ENST00000331299 Ensembl ENST00000555449 http://www.ensembl.org/id/ENST00000555449 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0015139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015139 GO_process GO:0006554 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006554 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006520 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006520 GOslim_process GO:0009056 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009056 Gene3D 1.50.40.10 http://www.cathdb.info/version/latest/superfamily/1.50.40.10 GeneCards SLC25A21 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC25A21 GeneID 89874 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=89874 GeneTree ENSGT00730000111119 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00730000111119 H-InvDB HIX0037719 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0037719 HGNC HGNC:14411 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:14411 HOGENOM HOG000168307 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000168307&db=HOGENOM6 HOVERGEN HBG105598 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG105598&db=HOVERGEN HPA HPA000662 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA000662 InParanoid Q9BQT8 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9BQT8 IntAct Q9BQT8 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9BQT8* InterPro IPR002067 http://www.ebi.ac.uk/interpro/entry/IPR002067 InterPro IPR018108 http://www.ebi.ac.uk/interpro/entry/IPR018108 InterPro IPR023395 http://www.ebi.ac.uk/interpro/entry/IPR023395 Jabion 89874 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=89874 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:89874 http://www.genome.jp/dbget-bin/www_bget?hsa:89874 KEGG_Orthology KO:K15110 http://www.genome.jp/dbget-bin/www_bget?KO:K15110 MIM 607571 http://www.ncbi.nlm.nih.gov/omim/607571 OMA MATVYKE http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=MATVYKE OrthoDB EOG091G0DEF http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0DEF PRINTS PR00926 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00926 PROSITE PS50920 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50920 PSORT swissprot:ODC_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ODC_HUMAN PSORT-B swissprot:ODC_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ODC_HUMAN PSORT2 swissprot:ODC_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ODC_HUMAN Pfam PF00153 http://pfam.xfam.org/family/PF00153 PharmGKB PA37880 http://www.pharmgkb.org/do/serve?objId=PA37880&objCls=Gene Phobius swissprot:ODC_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ODC_HUMAN PhylomeDB Q9BQT8 http://phylomedb.org/?seqid=Q9BQT8 ProteinModelPortal Q9BQT8 http://www.proteinmodelportal.org/query/uniprot/Q9BQT8 PubMed 11083877 http://www.ncbi.nlm.nih.gov/pubmed/11083877 PubMed 12508121 http://www.ncbi.nlm.nih.gov/pubmed/12508121 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 Reactome R-HSA-71064 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-71064 RefSeq NP_001164641 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001164641 RefSeq NP_085134 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_085134 STRING 9606.ENSP00000329452 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000329452&targetmode=cogs SUPFAM SSF103506 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103506 TCDB 2.A.29.2 http://www.tcdb.org/search/result.php?tc=2.A.29.2 UCSC uc001wtz http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001wtz&org=rat UniGene Hs.730857 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.730857 UniProtKB ODC_HUMAN http://www.uniprot.org/uniprot/ODC_HUMAN UniProtKB-AC Q9BQT8 http://www.uniprot.org/uniprot/Q9BQT8 charge swissprot:ODC_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ODC_HUMAN eggNOG ENOG410XRZG http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XRZG eggNOG KOG0754 http://eggnogapi.embl.de/nog_data/html/tree/KOG0754 epestfind swissprot:ODC_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ODC_HUMAN garnier swissprot:ODC_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ODC_HUMAN helixturnhelix swissprot:ODC_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ODC_HUMAN hmoment swissprot:ODC_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ODC_HUMAN iep swissprot:ODC_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ODC_HUMAN inforesidue swissprot:ODC_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ODC_HUMAN neXtProt NX_Q9BQT8 http://www.nextprot.org/db/entry/NX_Q9BQT8 octanol swissprot:ODC_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ODC_HUMAN pepcoil swissprot:ODC_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ODC_HUMAN pepdigest swissprot:ODC_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ODC_HUMAN pepinfo swissprot:ODC_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ODC_HUMAN pepnet swissprot:ODC_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ODC_HUMAN pepstats swissprot:ODC_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ODC_HUMAN pepwheel swissprot:ODC_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ODC_HUMAN pepwindow swissprot:ODC_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ODC_HUMAN sigcleave swissprot:ODC_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ODC_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS ATP5J_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P18859-1; Sequence=Displayed; Name=2; IsoId=P18859-2; Sequence=VSP_046187; # BioGrid 107006 49 # CCDS CCDS13574 -. [P18859-1] # CCDS CCDS46637 -. [P18859-2] # ChiTaRS ATP5J human # Ensembl ENST00000284971 ENSP00000284971; ENSG00000154723. [P18859-1] # Ensembl ENST00000400087 ENSP00000382959; ENSG00000154723. [P18859-1] # Ensembl ENST00000400090 ENSP00000382962; ENSG00000154723. [P18859-1] # Ensembl ENST00000400093 ENSP00000382965; ENSG00000154723. [P18859-1] # Ensembl ENST00000400094 ENSP00000382966; ENSG00000154723. [P18859-1] # Ensembl ENST00000457143 ENSP00000389649; ENSG00000154723. [P18859-2] # ExpressionAtlas P18859 baseline and differential # FUNCTION ATP5J_HUMAN Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(0) domain and the peripheric stalk, which acts as a stator to hold the catalytic alpha(3)beta(3) subcomplex and subunit a/ATP6 static relative to the rotary elements. Also involved in the restoration of oligomycin-sensitive ATPase activity to depleted F1-F0 complexes. # GO_component GO:0000276 mitochondrial proton-transporting ATP synthase complex, coupling factor F(o); IEA:Ensembl. # GO_component GO:0005739 mitochondrion; IDA:UniProtKB. # GO_component GO:0005743 mitochondrial inner membrane; TAS:Reactome. # GO_component GO:0005753 mitochondrial proton-transporting ATP synthase complex; IDA:UniProtKB. # GO_function GO:0005215 transporter activity; NAS:ProtInc. # GO_function GO:0015078 hydrogen ion transmembrane transporter activity; IEA:InterPro. # GO_function GO:0022857 transmembrane transporter activity; IC:UniProtKB. # GO_process GO:0006754 ATP biosynthetic process; TAS:Reactome. # GO_process GO:0021762 substantia nigra development; IEP:UniProtKB. # GO_process GO:0042776 mitochondrial ATP synthesis coupled proton transport; IC:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005739 mitochondrion # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0044281 small molecule metabolic process # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0055085 transmembrane transport # Genevisible P18859 HS # HGNC HGNC:847 ATP5J # IntAct P18859 28 # InterPro IPR008387 ATP_synth_f6_mt # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Brite ko01000 Enzymes # KEGG_Pathway ko00190 Oxidative phosphorylation # KEGG_Pathway ko05010 Alzheimer's disease # KEGG_Pathway ko05012 Parkinson's disease # KEGG_Pathway ko05016 Huntington's disease # MIM 603152 gene # Organism ATP5J_HUMAN Homo sapiens (Human) # PANTHER PTHR12441 PTHR12441 # PIR JT0563 JT0563 # PIRSF PIRSF002455 ATP_synthase_coupling_factor_6 # Pfam PF05511 ATP-synt_F6 # Proteomes UP000005640 Chromosome 21 # Reactome R-HSA-163210 Formation of ATP by chemiosmotic coupling # RecName ATP5J_HUMAN ATP synthase-coupling factor 6, mitochondrial # RefSeq NP_001003696 NM_001003696.1. [P18859-1] # RefSeq NP_001003697 NM_001003697.1. [P18859-1] # RefSeq NP_001003701 NM_001003701.1. [P18859-2] # RefSeq NP_001003703 NM_001003703.1. [P18859-1] # RefSeq NP_001307195 NM_001320266.1. [P18859-1] # RefSeq NP_001307196 NM_001320267.1. [P18859-1] # RefSeq NP_001676 NM_001685.4. [P18859-1] # SIMILARITY Belongs to the eukaryotic ATPase subunit F6 family. {ECO 0000305}. # SUBCELLULAR LOCATION ATP5J_HUMAN Mitochondrion. Mitochondrion inner membrane. # SUBUNIT F-type ATPases have 2 components, CF(1) - the catalytic core - and CF(0) - the membrane proton channel. CF(0) seems to have nine subunits: a, b, c, d, e, f, g, F6 and 8 (or A6L). Component of an ATP synthase complex composed of ATP5F1, ATP5G1, ATP5E, ATP5H, ATP5I, ATP5J, ATP5J2, MT-ATP6, MT-ATP8, ATP5A1, ATP5B, ATP5D, ATP5C1, ATP5O, ATP5L, USMG5 and MP68 (By similarity). {ECO 0000250}. # SUPFAM SSF111357 SSF111357 # TopDownProteomics P18859-1 -. [P18859-1] # UCSC uc002ylv human. [P18859-1] # eggNOG ENOG41122G1 LUCA # eggNOG KOG4634 Eukaryota BLAST swissprot:ATP5J_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ATP5J_HUMAN BioCyc ZFISH:ENSG00000154723-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000154723-MONOMER COXPRESdb 522 http://coxpresdb.jp/data/gene/522.shtml CleanEx HS_ATP5J http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ATP5J DOI 10.1002/elps.11501301201 http://dx.doi.org/10.1002/elps.11501301201 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1016/0006-291X(91)90178-A http://dx.doi.org/10.1016/0006-291X(91)90178-A DOI 10.1016/0378-1119(91)90068-M http://dx.doi.org/10.1016/0378-1119(91)90068-M DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/35012518 http://dx.doi.org/10.1038/35012518 DOI 10.1093/dnares/dsl016 http://dx.doi.org/10.1093/dnares/dsl016 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1101/gr.GR1547R http://dx.doi.org/10.1101/gr.GR1547R DOI 10.1126/science.1175371 http://dx.doi.org/10.1126/science.1175371 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AL110183 http://www.ebi.ac.uk/ena/data/view/AL110183 EMBL AP001694 http://www.ebi.ac.uk/ena/data/view/AP001694 EMBL BC001178 http://www.ebi.ac.uk/ena/data/view/BC001178 EMBL BT007244 http://www.ebi.ac.uk/ena/data/view/BT007244 EMBL DT217787 http://www.ebi.ac.uk/ena/data/view/DT217787 EMBL M37104 http://www.ebi.ac.uk/ena/data/view/M37104 EMBL M73031 http://www.ebi.ac.uk/ena/data/view/M73031 Ensembl ENST00000284971 http://www.ensembl.org/id/ENST00000284971 Ensembl ENST00000400087 http://www.ensembl.org/id/ENST00000400087 Ensembl ENST00000400090 http://www.ensembl.org/id/ENST00000400090 Ensembl ENST00000400093 http://www.ensembl.org/id/ENST00000400093 Ensembl ENST00000400094 http://www.ensembl.org/id/ENST00000400094 Ensembl ENST00000457143 http://www.ensembl.org/id/ENST00000457143 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000276 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000276 GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0005753 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005753 GO_function GO:0005215 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005215 GO_function GO:0015078 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015078 GO_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GO_process GO:0006754 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006754 GO_process GO:0021762 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021762 GO_process GO:0042776 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042776 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards ATP5J http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ATP5J GeneID 522 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=522 GeneTree ENSGT00390000008902 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000008902 HGNC HGNC:847 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:847 HOGENOM HOG000261672 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000261672&db=HOGENOM6 HOVERGEN HBG062261 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG062261&db=HOVERGEN HPA HPA031069 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA031069 InParanoid P18859 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P18859 IntAct P18859 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P18859* InterPro IPR008387 http://www.ebi.ac.uk/interpro/entry/IPR008387 Jabion 522 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=522 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00002 http://www.genome.jp/dbget-bin/www_bget?ko00002 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Gene hsa:522 http://www.genome.jp/dbget-bin/www_bget?hsa:522 KEGG_Orthology KO:K02131 http://www.genome.jp/dbget-bin/www_bget?KO:K02131 KEGG_Pathway ko00190 http://www.genome.jp/kegg-bin/show_pathway?ko00190 KEGG_Pathway ko05010 http://www.genome.jp/kegg-bin/show_pathway?ko05010 KEGG_Pathway ko05012 http://www.genome.jp/kegg-bin/show_pathway?ko05012 KEGG_Pathway ko05016 http://www.genome.jp/kegg-bin/show_pathway?ko05016 MIM 603152 http://www.ncbi.nlm.nih.gov/omim/603152 MINT MINT-3009016 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-3009016 OMA YKQKSSG http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=YKQKSSG PANTHER PTHR12441 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12441 PSORT swissprot:ATP5J_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ATP5J_HUMAN PSORT-B swissprot:ATP5J_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ATP5J_HUMAN PSORT2 swissprot:ATP5J_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ATP5J_HUMAN Pfam PF05511 http://pfam.xfam.org/family/PF05511 PharmGKB PA25137 http://www.pharmgkb.org/do/serve?objId=PA25137&objCls=Gene Phobius swissprot:ATP5J_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ATP5J_HUMAN PhylomeDB P18859 http://phylomedb.org/?seqid=P18859 ProteinModelPortal P18859 http://www.proteinmodelportal.org/query/uniprot/P18859 PubMed 10830953 http://www.ncbi.nlm.nih.gov/pubmed/10830953 PubMed 11230166 http://www.ncbi.nlm.nih.gov/pubmed/11230166 PubMed 1286669 http://www.ncbi.nlm.nih.gov/pubmed/1286669 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 17213182 http://www.ncbi.nlm.nih.gov/pubmed/17213182 PubMed 1825642 http://www.ncbi.nlm.nih.gov/pubmed/1825642 PubMed 1830479 http://www.ncbi.nlm.nih.gov/pubmed/1830479 PubMed 19608861 http://www.ncbi.nlm.nih.gov/pubmed/19608861 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 Reactome R-HSA-163210 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-163210 RefSeq NP_001003696 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001003696 RefSeq NP_001003697 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001003697 RefSeq NP_001003701 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001003701 RefSeq NP_001003703 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001003703 RefSeq NP_001307195 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001307195 RefSeq NP_001307196 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001307196 RefSeq NP_001676 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001676 SMR P18859 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P18859 STRING 9606.ENSP00000389649 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000389649&targetmode=cogs SUPFAM SSF111357 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF111357 SWISS-2DPAGE P18859 http://world-2dpage.expasy.org/swiss-2dpage/protein/ac=P18859 UCSC uc002ylv http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002ylv&org=rat UniGene Hs.246310 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.246310 UniProtKB ATP5J_HUMAN http://www.uniprot.org/uniprot/ATP5J_HUMAN UniProtKB-AC P18859 http://www.uniprot.org/uniprot/P18859 charge swissprot:ATP5J_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ATP5J_HUMAN eggNOG ENOG41122G1 http://eggnogapi.embl.de/nog_data/html/tree/ENOG41122G1 eggNOG KOG4634 http://eggnogapi.embl.de/nog_data/html/tree/KOG4634 epestfind swissprot:ATP5J_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ATP5J_HUMAN garnier swissprot:ATP5J_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ATP5J_HUMAN helixturnhelix swissprot:ATP5J_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ATP5J_HUMAN hmoment swissprot:ATP5J_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ATP5J_HUMAN iep swissprot:ATP5J_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ATP5J_HUMAN inforesidue swissprot:ATP5J_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ATP5J_HUMAN neXtProt NX_P18859 http://www.nextprot.org/db/entry/NX_P18859 octanol swissprot:ATP5J_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ATP5J_HUMAN pepcoil swissprot:ATP5J_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ATP5J_HUMAN pepdigest swissprot:ATP5J_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ATP5J_HUMAN pepinfo swissprot:ATP5J_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ATP5J_HUMAN pepnet swissprot:ATP5J_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ATP5J_HUMAN pepstats swissprot:ATP5J_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ATP5J_HUMAN pepwheel swissprot:ATP5J_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ATP5J_HUMAN pepwindow swissprot:ATP5J_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ATP5J_HUMAN sigcleave swissprot:ATP5J_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ATP5J_HUMAN ## Database ID URL or Descriptions # AltName COX1_HUMAN Cytochrome c oxidase polypeptide I # BRENDA 1.9.3 2681 # BioGrid 110615 32 # CATALYTIC ACTIVITY COX1_HUMAN 4 ferrocytochrome c + O(2) + 4 H(+) = 4 ferricytochrome c + 2 H(2)O. # CDD cd01663 Cyt_c_Oxidase_I # DISEASE COX1_HUMAN Colorectal cancer (CRC) [MIM 114500] A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. {ECO 0000269|PubMed 16407113}. Note=The gene represented in this entry may be involved in disease pathogenesis. # DISEASE COX1_HUMAN Deafness, sensorineural, mitochondrial (DFNM) [MIM 500008] A form of non-syndromic deafness with maternal inheritance. Affected individuals manifest progressive, postlingual, sensorineural hearing loss involving high frequencies. {ECO 0000269|PubMed 10577941}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE COX1_HUMAN Leber hereditary optic neuropathy (LHON) [MIM 535000] A maternally inherited disease resulting in acute or subacute loss of central vision, due to optic nerve dysfunction. Cardiac conduction defects and neurological defects have also been described in some patients. LHON results from primary mitochondrial DNA mutations affecting the respiratory chain complexes. {ECO 0000269|PubMed 1322638}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE COX1_HUMAN Mitochondrial complex IV deficiency (MT-C4D) [MIM 220110] A disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to severe multisystem disease affecting several tissues and organs. Features include hypertrophic cardiomyopathy, hepatomegaly and liver dysfunction, hypotonia, muscle weakness, exercise intolerance, developmental delay, delayed motor development and mental retardation. Some affected individuals manifest a fatal hypertrophic cardiomyopathy resulting in neonatal death. A subset of patients manifest Leigh syndrome. {ECO 0000269|PubMed 12140182, ECO 0000269|PubMed 16284789}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE COX1_HUMAN Note=MT-CO1 may play a role in the pathogenesis of acquired idiopathic sideroblastic anemia, a disease characterized by inadequate formation of heme and excessive accumulation of iron in mitochondria. Mitochondrial iron overload may be attributable to mutations of mitochondrial DNA because these can cause respiratory chain dysfunction, thereby impairing reduction of ferric iron to ferrous iron. The reduced form of iron is essential to the last step of mitochondrial heme biosynthesis. {ECO 0000269|PubMed 9389715, ECO 0000269|PubMed 9851701}. # DISEASE COX1_HUMAN Recurrent myoglobinuria mitochondrial (RM-MT) [MIM 550500] Recurrent myoglobinuria is characterized by recurrent attacks of rhabdomyolysis (necrosis or disintegration of skeletal muscle) associated with muscle pain and weakness, and followed by excretion of myoglobin in the urine. {ECO 0000269|PubMed 10980727}. Note=The gene represented in this entry may be involved in disease pathogenesis. # DrugBank DB02659 Cholic Acid # Ensembl ENST00000361624 ENSP00000354499; ENSG00000198804 # ExpressionAtlas P00395 baseline and differential # FUNCTION COX1_HUMAN Cytochrome c oxidase is the component of the respiratory chain that catalyzes the reduction of oxygen to water. Subunits 1- 3 form the functional core of the enzyme complex. CO I is the catalytic subunit of the enzyme. Electrons originating in cytochrome c are transferred via the copper A center of subunit 2 and heme A of subunit 1 to the bimetallic center formed by heme A3 and copper B. # GO_component GO:0005743 mitochondrial inner membrane; TAS:Reactome. # GO_component GO:0005751 mitochondrial respiratory chain complex IV; IEA:Ensembl. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0045277 respiratory chain complex IV; IDA:UniProtKB. # GO_function GO:0004129 cytochrome-c oxidase activity; IEA:UniProtKB-EC. # GO_function GO:0005506 iron ion binding; IEA:InterPro. # GO_function GO:0020037 heme binding; IEA:InterPro. # GO_process GO:0006123 mitochondrial electron transport, cytochrome c to oxygen; TAS:Reactome. # GO_process GO:0006979 response to oxidative stress; IEA:Ensembl. # GO_process GO:0007568 aging; IEA:Ensembl. # GO_process GO:0009060 aerobic respiration; IEA:InterPro. # GO_process GO:0021549 cerebellum development; IEA:Ensembl. # GO_process GO:0046688 response to copper ion; IEA:Ensembl. # GO_process GO:0051602 response to electrical stimulus; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0016491 oxidoreductase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006091 generation of precursor metabolites and energy # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007568 aging # GOslim_process GO:0008150 biological_process # GOslim_process GO:0048856 anatomical structure development # Gene3D 1.20.210.10 -; 1. # Genevisible P00395 HS # HGNC HGNC:7419 MT-CO1 # INTERACTION COX1_HUMAN Q9Y2R0 COA3; NbExp=11; IntAct=EBI-2117234, EBI-6570446; P13073 COX4I1; NbExp=2; IntAct=EBI-2117234, EBI-1056574; Q9BVV7 TIMM21; NbExp=3; IntAct=EBI-2117234, EBI-6570759; # IntAct P00395 13 # InterPro IPR000883 COX1 # InterPro IPR023615 Cyt_c_Oxase_su1_BS # InterPro IPR023616 Cyt_c_oxase-like_su1_dom # InterPro IPR033944 Cyt_c_oxase_su1_dom # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Brite ko01000 Enzymes # KEGG_Disease H00068 [Neurodegenerative disease] Leber hereditary optic atrophy (LHON) # KEGG_Disease H01368:[Inherited metabolic disease; Mitochondrial disease] Leber Hereditary Optic Neuropathy (LHON) [DS H00068] # KEGG_Pathway ko00190 Oxidative phosphorylation # KEGG_Pathway ko04260 Cardiac muscle contraction # KEGG_Pathway ko05010 Alzheimer's disease # KEGG_Pathway ko05012 Parkinson's disease # KEGG_Pathway ko05016 Huntington's disease # MIM 114500 phenotype # MIM 220110 phenotype # MIM 500008 phenotype # MIM 516030 gene # MIM 535000 phenotype # MIM 550500 phenotype # Organism COX1_HUMAN Homo sapiens (Human) # Orphanet 104 Leber hereditary optic neuropathy # Orphanet 168609 Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure # Orphanet 254905 Isolated cytochrome C oxidase deficiency # Orphanet 255210 Maternally-inherited Leigh syndrome # Orphanet 550 MELAS # Orphanet 90641 Mitochondrial non-syndromic sensorineural deafness # Orphanet 99845 Genetic recurrent myoglobinuria # PANTHER PTHR10422 PTHR10422 # PATHWAY COX1_HUMAN Energy metabolism; oxidative phosphorylation. # PIR A00463 ODHU1 # PRINTS PR01165 CYCOXIDASEI # PROSITE PS00077 COX1_CUB # PROSITE PS50855 COX1 # Pfam PF00115 COX1 # Proteomes UP000005640 Mitochondrion # Reactome R-HSA-5628897 TP53 Regulates Metabolic Genes # Reactome R-HSA-611105 Respiratory electron transport # RecName COX1_HUMAN Cytochrome c oxidase subunit 1 # RefSeq YP_003024028 NC_012920.1 # SIMILARITY Belongs to the heme-copper respiratory oxidase family. {ECO 0000305}. # SUBCELLULAR LOCATION COX1_HUMAN Mitochondrion inner membrane; Multi-pass membrane protein. # SUBUNIT As a newly synthesized protein, rapidly incorporates into a multi-subunit assembly intermediate in the inner membrane, called MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase) complex, whose core components are COA3/MITRAC12 and COX14. Within the MITRAC complex, interacts with COA3 and with SMIM20/MITRAC7; the interaction with SMIM20 stabilizes the newly synthesized MT-CO1 and prevents its premature turnover. {ECO:0000269|PubMed 26321642}. # SUPFAM SSF81442 SSF81442 # TCDB 3.D.4.11 the proton-translocating cytochrome oxidase (cox) superfamily # eggNOG COG0843 LUCA # eggNOG KOG4769 Eukaryota BLAST swissprot:COX1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:COX1_HUMAN BioCyc ZFISH:HS00026-MONOMER http://biocyc.org/getid?id=ZFISH:HS00026-MONOMER COG COG0843 http://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=COG0843 COXPRESdb 4512 http://coxpresdb.jp/data/gene/4512.shtml DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1007/BF00206061 http://dx.doi.org/10.1007/BF00206061 DOI 10.1007/s00414-004-0427-6 http://dx.doi.org/10.1007/s00414-004-0427-6 DOI 10.1007/s10048-005-0015-z http://dx.doi.org/10.1007/s10048-005-0015-z DOI 10.1016/0022-2836(80)90196-5 http://dx.doi.org/10.1016/0022-2836(80)90196-5 DOI 10.1016/j.celrep.2015.08.009 http://dx.doi.org/10.1016/j.celrep.2015.08.009 DOI 10.1038/290457a0 http://dx.doi.org/10.1038/290457a0 DOI 10.1038/35047064 http://dx.doi.org/10.1038/35047064 DOI 10.1046/j.1432-1327.1998.2580132.x http://dx.doi.org/10.1046/j.1432-1327.1998.2580132.x DOI 10.1073/pnas.0505903103 http://dx.doi.org/10.1073/pnas.0505903103 DOI 10.1073/pnas.0811450106 http://dx.doi.org/10.1073/pnas.0811450106 DOI 10.1073/pnas.92.2.532 http://dx.doi.org/10.1073/pnas.92.2.532 DOI 10.1086/302658 http://dx.doi.org/10.1086/302658 DOI 10.1093/hmg/11.16.1797 http://dx.doi.org/10.1093/hmg/11.16.1797 DOI 10.1093/molbev/msg230 http://dx.doi.org/10.1093/molbev/msg230 DOI 10.1101/gr.686603 http://dx.doi.org/10.1101/gr.686603 DOI 10.1212/WNL.55.5.644 http://dx.doi.org/10.1212/WNL.55.5.644 DrugBank DB02659 http://www.drugbank.ca/drugs/DB02659 EC_number EC:1.9.3.1 http://www.genome.jp/dbget-bin/www_bget?EC:1.9.3.1 EMBL AF346963 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http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005506 GO_function GO:0020037 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0020037 GO_process GO:0006123 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006123 GO_process GO:0006979 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006979 GO_process GO:0007568 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007568 GO_process GO:0009060 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009060 GO_process GO:0021549 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021549 GO_process GO:0046688 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046688 GO_process GO:0051602 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051602 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0016491 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016491 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006091 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007568 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007568 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 Gene3D 1.20.210.10 http://www.cathdb.info/version/latest/superfamily/1.20.210.10 GeneCards MT-CO1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=MT-CO1 GeneID 4512 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=4512 GeneTree ENSGT00390000001518 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000001518 HGNC HGNC:7419 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:7419 HOVERGEN HBG003841 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG003841&db=HOVERGEN HPA CAB016241 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB016241 HPA HPA069328 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA069328 InParanoid P00395 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P00395 IntAct P00395 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P00395* IntEnz 1.9.3.1 http://www.ebi.ac.uk/intenz/query?cmd=Search&q=1.9.3.1 InterPro IPR000883 http://www.ebi.ac.uk/interpro/entry/IPR000883 InterPro IPR023615 http://www.ebi.ac.uk/interpro/entry/IPR023615 InterPro IPR023616 http://www.ebi.ac.uk/interpro/entry/IPR023616 InterPro IPR033944 http://www.ebi.ac.uk/interpro/entry/IPR033944 Jabion 4512 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=4512 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00002 http://www.genome.jp/dbget-bin/www_bget?ko00002 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Disease H00068 http://www.genome.jp/dbget-bin/www_bget?H00068 KEGG_Disease H01368 http://www.genome.jp/dbget-bin/www_bget?H01368 KEGG_Gene hsa:4512 http://www.genome.jp/dbget-bin/www_bget?hsa:4512 KEGG_Orthology KO:K02256 http://www.genome.jp/dbget-bin/www_bget?KO:K02256 KEGG_Pathway ko00190 http://www.genome.jp/kegg-bin/show_pathway?ko00190 KEGG_Pathway ko04260 http://www.genome.jp/kegg-bin/show_pathway?ko04260 KEGG_Pathway ko05010 http://www.genome.jp/kegg-bin/show_pathway?ko05010 KEGG_Pathway ko05012 http://www.genome.jp/kegg-bin/show_pathway?ko05012 KEGG_Pathway ko05016 http://www.genome.jp/kegg-bin/show_pathway?ko05016 MIM 114500 http://www.ncbi.nlm.nih.gov/omim/114500 MIM 220110 http://www.ncbi.nlm.nih.gov/omim/220110 MIM 500008 http://www.ncbi.nlm.nih.gov/omim/500008 MIM 516030 http://www.ncbi.nlm.nih.gov/omim/516030 MIM 535000 http://www.ncbi.nlm.nih.gov/omim/535000 MIM 550500 http://www.ncbi.nlm.nih.gov/omim/550500 MINT MINT-4773455 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-4773455 OMA PYHTFEE http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=PYHTFEE Orphanet 104 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=104 Orphanet 168609 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=168609 Orphanet 254905 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=254905 Orphanet 255210 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=255210 Orphanet 550 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=550 Orphanet 90641 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=90641 Orphanet 99845 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=99845 OrthoDB EOG091G035B http://cegg.unige.ch/orthodb/results?searchtext=EOG091G035B PANTHER PTHR10422 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10422 PRINTS PR01165 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01165 PROSITE PS00077 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00077 PROSITE PS50855 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50855 PSORT swissprot:COX1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:COX1_HUMAN PSORT-B swissprot:COX1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:COX1_HUMAN PSORT2 swissprot:COX1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:COX1_HUMAN Pfam PF00115 http://pfam.xfam.org/family/PF00115 PharmGKB PA31225 http://www.pharmgkb.org/do/serve?objId=PA31225&objCls=Gene Phobius swissprot:COX1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:COX1_HUMAN PhylomeDB P00395 http://phylomedb.org/?seqid=P00395 ProteinModelPortal P00395 http://www.proteinmodelportal.org/query/uniprot/P00395 PubMed 10577941 http://www.ncbi.nlm.nih.gov/pubmed/10577941 PubMed 10980727 http://www.ncbi.nlm.nih.gov/pubmed/10980727 PubMed 11130070 http://www.ncbi.nlm.nih.gov/pubmed/11130070 PubMed 12140182 http://www.ncbi.nlm.nih.gov/pubmed/12140182 PubMed 12840039 http://www.ncbi.nlm.nih.gov/pubmed/12840039 PubMed 12949126 http://www.ncbi.nlm.nih.gov/pubmed/12949126 PubMed 1322638 http://www.ncbi.nlm.nih.gov/pubmed/1322638 PubMed 14760490 http://www.ncbi.nlm.nih.gov/pubmed/14760490 PubMed 16284789 http://www.ncbi.nlm.nih.gov/pubmed/16284789 PubMed 16407113 http://www.ncbi.nlm.nih.gov/pubmed/16407113 PubMed 1757091 http://www.ncbi.nlm.nih.gov/pubmed/1757091 PubMed 19218458 http://www.ncbi.nlm.nih.gov/pubmed/19218458 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 26321642 http://www.ncbi.nlm.nih.gov/pubmed/26321642 PubMed 6260957 http://www.ncbi.nlm.nih.gov/pubmed/6260957 PubMed 7219534 http://www.ncbi.nlm.nih.gov/pubmed/7219534 PubMed 7530363 http://www.ncbi.nlm.nih.gov/pubmed/7530363 PubMed 9389715 http://www.ncbi.nlm.nih.gov/pubmed/9389715 PubMed 9851701 http://www.ncbi.nlm.nih.gov/pubmed/9851701 Reactome R-HSA-5628897 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5628897 Reactome R-HSA-611105 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-611105 RefSeq YP_003024028 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=YP_003024028 SMR P00395 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P00395 STRING 9606.ENSP00000354499 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000354499&targetmode=cogs STRING COG0843 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=COG0843&targetmode=cogs SUPFAM SSF81442 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81442 TCDB 3.D.4.11 http://www.tcdb.org/search/result.php?tc=3.D.4.11 UniProtKB COX1_HUMAN http://www.uniprot.org/uniprot/COX1_HUMAN UniProtKB-AC P00395 http://www.uniprot.org/uniprot/P00395 charge swissprot:COX1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:COX1_HUMAN eggNOG COG0843 http://eggnogapi.embl.de/nog_data/html/tree/COG0843 eggNOG KOG4769 http://eggnogapi.embl.de/nog_data/html/tree/KOG4769 epestfind swissprot:COX1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:COX1_HUMAN garnier swissprot:COX1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:COX1_HUMAN helixturnhelix swissprot:COX1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:COX1_HUMAN hmoment swissprot:COX1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:COX1_HUMAN iep swissprot:COX1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:COX1_HUMAN inforesidue swissprot:COX1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:COX1_HUMAN neXtProt NX_P00395 http://www.nextprot.org/db/entry/NX_P00395 octanol swissprot:COX1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:COX1_HUMAN pepcoil swissprot:COX1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:COX1_HUMAN pepdigest swissprot:COX1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:COX1_HUMAN pepinfo swissprot:COX1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:COX1_HUMAN pepnet swissprot:COX1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:COX1_HUMAN pepstats swissprot:COX1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:COX1_HUMAN pepwheel swissprot:COX1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:COX1_HUMAN pepwindow swissprot:COX1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:COX1_HUMAN sigcleave swissprot:COX1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:COX1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS KCNH6_HUMAN Event=Alternative splicing; Named isoforms=3; Comment=Experimental confirmation may be lacking for some isoforms.; Name=1; IsoId=Q9H252-1; Sequence=Displayed; Name=2; IsoId=Q9H252-2; Sequence=VSP_000977, VSP_000978; Name=3; IsoId=Q9H252-3; Sequence=VSP_000979, VSP_000980; # AltName KCNH6_HUMAN Ether-a-go-go-related gene potassium channel 2 # AltName KCNH6_HUMAN Voltage-gated potassium channel subunit Kv11.2 # CCDS CCDS11638 -. [Q9H252-1] # CCDS CCDS11639 -. [Q9H252-2] # DOMAIN KCNH6_HUMAN The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position. # DrugBank DB00308 Ibutilide # DrugBank DB00457 Prazosin # DrugBank DB00590 Doxazosin # DrugBank DB01110 Miconazole # DrugBank DB01162 Terazosin # Ensembl ENST00000456941 ENSP00000396900; ENSG00000173826. [Q9H252-2] # Ensembl ENST00000580652 ENSP00000464672; ENSG00000173826. [Q9H252-3] # Ensembl ENST00000581784 ENSP00000463830; ENSG00000173826. [Q9H252-2] # Ensembl ENST00000583023 ENSP00000463533; ENSG00000173826. [Q9H252-1] # ExpressionAtlas Q9H252 baseline and differential # FUNCTION KCNH6_HUMAN Pore-forming (alpha) subunit of voltage-gated potassium channel. Elicits a slowly activating, rectifying current (By similarity). Channel properties may be modulated by cAMP and subunit assembly. {ECO 0000250}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_function GO:0005249 voltage-gated potassium channel activity; IBA:GO_Central. # GO_process GO:0042391 regulation of membrane potential; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0008150 biological_process # Gene3D 2.60.120.10 -; 2. # Genevisible Q9H252 HS # HGNC HGNC:18862 KCNH6 # InterPro IPR000014 PAS # InterPro IPR000595 cNMP-bd_dom # InterPro IPR003938 K_chnl_volt-dep_EAG/ELK/ERG # InterPro IPR003967 K_chnl_volt-dep_ERG # InterPro IPR005821 Ion_trans_dom # InterPro IPR014710 RmlC-like_jellyroll # InterPro IPR018490 cNMP-bd-like # InterPro IPR030172 KCNH6 # KEGG_Brite ko04040 Ion channels # MIM 608168 gene # Organism KCNH6_HUMAN Homo sapiens (Human) # PANTHER PTHR10217:SF468 PTHR10217:SF468 # PRINTS PR01463 EAGCHANLFMLY # PRINTS PR01470 ERGCHANNEL # PROSITE PS50042 CNMP_BINDING_3 # Pfam PF00027 cNMP_binding # Pfam PF00520 Ion_trans # Pfam PF13426 PAS_9 # Proteomes UP000005640 Chromosome 17 # Reactome R-HSA-1296072 Voltage gated Potassium channels # RecName KCNH6_HUMAN Potassium voltage-gated channel subfamily H member 6 # RefSeq NP_001265848 NM_001278919.1 # RefSeq NP_001265849 NM_001278920.1 # RefSeq NP_110406 NM_030779.3. [Q9H252-1] # RefSeq NP_775115 NM_173092.2. [Q9H252-2] # RefSeq XP_011523612 XM_011525310.2. [Q9H252-2] # RefSeq XP_016880664 XM_017025175.1. [Q9H252-1] # SIMILARITY Belongs to the potassium channel family. H (Eag) (TC 1.A.1.20) subfamily. Kv11.2/KCNH6 sub-subfamily. {ECO 0000305}. # SIMILARITY Contains 1 PAC (PAS-associated C-terminal) domain. {ECO 0000305}. # SIMILARITY Contains 1 PAS (PER-ARNT-SIM) domain. {ECO 0000305}. # SIMILARITY Contains 1 cyclic nucleotide-binding domain. {ECO:0000255|PROSITE-ProRule PRU00060}. # SMART SM00100 cNMP # SUBCELLULAR LOCATION KCNH6_HUMAN Membrane; Multi-pass membrane protein. # SUBUNIT The potassium channel is probably composed of a homo- or heterotetrameric complex of pore-forming alpha subunits that can associate with modulating beta subunits. Heteromultimers with KCNH2/ERG1 and KCNH7/ERG3 (By similarity). {ECO 0000250}. # SUPFAM SSF51206 SSF51206 # SUPFAM SSF55785 SSF55785 # TISSUE SPECIFICITY Expressed in prolactin-secreting adenomas. {ECO:0000269|PubMed 12634931}. # UCSC uc002jax human. [Q9H252-1] # eggNOG ENOG410XPSE LUCA # eggNOG KOG0498 Eukaryota BLAST swissprot:KCNH6_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCNH6_HUMAN BioCyc ZFISH:ENSG00000173826-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000173826-MONOMER COXPRESdb 81033 http://coxpresdb.jp/data/gene/81033.shtml CleanEx HS_KCNH6 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNH6 DOI 10.1007/s00424-002-0980-0 http://dx.doi.org/10.1007/s00424-002-0980-0 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/mcp.M800504-MCP200 http://dx.doi.org/10.1074/mcp.M800504-MCP200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DrugBank DB00308 http://www.drugbank.ca/drugs/DB00308 DrugBank DB00457 http://www.drugbank.ca/drugs/DB00457 DrugBank DB00590 http://www.drugbank.ca/drugs/DB00590 DrugBank DB01110 http://www.drugbank.ca/drugs/DB01110 DrugBank DB01162 http://www.drugbank.ca/drugs/DB01162 EMBL AF311913 http://www.ebi.ac.uk/ena/data/view/AF311913 EMBL AK090969 http://www.ebi.ac.uk/ena/data/view/AK090969 EMBL AK091877 http://www.ebi.ac.uk/ena/data/view/AK091877 EMBL BC006334 http://www.ebi.ac.uk/ena/data/view/BC006334 Ensembl ENST00000456941 http://www.ensembl.org/id/ENST00000456941 Ensembl ENST00000580652 http://www.ensembl.org/id/ENST00000580652 Ensembl ENST00000581784 http://www.ensembl.org/id/ENST00000581784 Ensembl ENST00000583023 http://www.ensembl.org/id/ENST00000583023 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0005249 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005249 GO_process GO:0042391 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042391 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 Gene3D 2.60.120.10 http://www.cathdb.info/version/latest/superfamily/2.60.120.10 GeneCards KCNH6 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNH6 GeneID 81033 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=81033 GeneTree ENSGT00760000118772 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118772 HGNC HGNC:18862 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:18862 HOGENOM HOG000230793 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000230793&db=HOGENOM6 HOVERGEN HBG052232 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052232&db=HOVERGEN HPA CAB022674 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB022674 InParanoid Q9H252 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9H252 InterPro IPR000014 http://www.ebi.ac.uk/interpro/entry/IPR000014 InterPro IPR000595 http://www.ebi.ac.uk/interpro/entry/IPR000595 InterPro IPR003938 http://www.ebi.ac.uk/interpro/entry/IPR003938 InterPro IPR003967 http://www.ebi.ac.uk/interpro/entry/IPR003967 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR014710 http://www.ebi.ac.uk/interpro/entry/IPR014710 InterPro IPR018490 http://www.ebi.ac.uk/interpro/entry/IPR018490 InterPro IPR030172 http://www.ebi.ac.uk/interpro/entry/IPR030172 Jabion 81033 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=81033 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:81033 http://www.genome.jp/dbget-bin/www_bget?hsa:81033 KEGG_Orthology KO:K04909 http://www.genome.jp/dbget-bin/www_bget?KO:K04909 MIM 608168 http://www.ncbi.nlm.nih.gov/omim/608168 OMA VSHPRRI http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=VSHPRRI OrthoDB EOG091G024C http://cegg.unige.ch/orthodb/results?searchtext=EOG091G024C PANTHER PTHR10217:SF468 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10217:SF468 PRINTS PR01463 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01463 PRINTS PR01470 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01470 PROSITE PS50042 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50042 PSORT swissprot:KCNH6_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCNH6_HUMAN PSORT-B swissprot:KCNH6_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCNH6_HUMAN PSORT2 swissprot:KCNH6_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCNH6_HUMAN Pfam PF00027 http://pfam.xfam.org/family/PF00027 Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF13426 http://pfam.xfam.org/family/PF13426 PharmGKB PA38722 http://www.pharmgkb.org/do/serve?objId=PA38722&objCls=Gene Phobius swissprot:KCNH6_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCNH6_HUMAN PhylomeDB Q9H252 http://phylomedb.org/?seqid=Q9H252 ProteinModelPortal Q9H252 http://www.proteinmodelportal.org/query/uniprot/Q9H252 PubMed 12634931 http://www.ncbi.nlm.nih.gov/pubmed/12634931 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 19139490 http://www.ncbi.nlm.nih.gov/pubmed/19139490 Reactome R-HSA-1296072 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1296072 RefSeq NP_001265848 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001265848 RefSeq NP_001265849 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001265849 RefSeq NP_110406 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_110406 RefSeq NP_775115 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_775115 RefSeq XP_011523612 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011523612 RefSeq XP_016880664 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016880664 SMART SM00100 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00100 SMR Q9H252 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9H252 STRING 9606.ENSP00000463533 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000463533&targetmode=cogs SUPFAM SSF51206 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF51206 SUPFAM SSF55785 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF55785 UCSC uc002jax http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002jax&org=rat UniGene Hs.591177 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.591177 UniProtKB KCNH6_HUMAN http://www.uniprot.org/uniprot/KCNH6_HUMAN UniProtKB-AC Q9H252 http://www.uniprot.org/uniprot/Q9H252 charge swissprot:KCNH6_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCNH6_HUMAN eggNOG ENOG410XPSE http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XPSE eggNOG KOG0498 http://eggnogapi.embl.de/nog_data/html/tree/KOG0498 epestfind swissprot:KCNH6_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCNH6_HUMAN garnier swissprot:KCNH6_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCNH6_HUMAN helixturnhelix swissprot:KCNH6_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCNH6_HUMAN hmoment swissprot:KCNH6_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCNH6_HUMAN iep swissprot:KCNH6_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCNH6_HUMAN inforesidue swissprot:KCNH6_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCNH6_HUMAN neXtProt NX_Q9H252 http://www.nextprot.org/db/entry/NX_Q9H252 octanol swissprot:KCNH6_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCNH6_HUMAN pepcoil swissprot:KCNH6_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCNH6_HUMAN pepdigest swissprot:KCNH6_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCNH6_HUMAN pepinfo swissprot:KCNH6_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCNH6_HUMAN pepnet swissprot:KCNH6_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCNH6_HUMAN pepstats swissprot:KCNH6_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCNH6_HUMAN pepwheel swissprot:KCNH6_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCNH6_HUMAN pepwindow swissprot:KCNH6_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCNH6_HUMAN sigcleave swissprot:KCNH6_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCNH6_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS PK1L2_HUMAN Event=Alternative splicing; Named isoforms=5; Name=1; IsoId=Q7Z442-1; Sequence=Displayed; Name=2; Synonyms=Long isoform; IsoId=Q7Z442-2; Sequence=VSP_031942; Name=3; IsoId=Q7Z442-3; Sequence=VSP_031946, VSP_031948; Name=4; IsoId=Q7Z442-4; Sequence=VSP_031942, VSP_031946, VSP_031948; Note=No experimental confirmation available.; Name=6; IsoId=Q7Z442-6; Sequence=VSP_031942, VSP_031944, VSP_031945, VSP_031947; Note=No experimental confirmation available.; # AltName PK1L2_HUMAN PC1-like 2 protein # AltName PK1L2_HUMAN Polycystin-1L2 # CCDS CCDS61999 -. [Q7Z442-4] # DEVELOPMENTAL STAGE PK1L2_HUMAN Expressed in fetal heart. # Ensembl ENST00000337114 ENSP00000337397; ENSG00000166473. [Q7Z442-3] # Ensembl ENST00000527937 ENSP00000432818; ENSG00000166473. [Q7Z442-6] # Ensembl ENST00000531391 ENSP00000436309; ENSG00000166473. [Q7Z442-4] # ExpressionAtlas Q7Z442 baseline and differential # FUNCTION PK1L2_HUMAN May function as an ion-channel regulator. May function as a G-protein-coupled receptor. {ECO 0000269|PubMed 15203210}. # GO_component GO:0016020 membrane; IBA:GO_Central. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0005262 calcium channel activity; IBA:GO_Central. # GO_function GO:0005509 calcium ion binding; IEA:InterPro. # GO_function GO:0030246 carbohydrate binding; IEA:UniProtKB-KW. # GO_process GO:0050982 detection of mechanical stimulus; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0008150 biological_process # Gene3D 2.60.60.20 -; 1. # Gene3D 3.10.100.10 -; 1. # Genevisible Q7Z442 HS # HGNC HGNC:21715 PKD1L2 # InterPro IPR000203 GPS # InterPro IPR000922 Lectin_gal-bd_dom # InterPro IPR001024 PLAT/LH2_dom # InterPro IPR001304 C-type_lectin-like # InterPro IPR002859 PKD/REJ-like # InterPro IPR003915 PKD_2 # InterPro IPR013122 PKD1_2_channel # InterPro IPR014010 REJ_dom # InterPro IPR016186 C-type_lectin-like/link # InterPro IPR016187 CTDL_fold # KEGG_Brite ko04040 Ion channels # MIM 607894 gene # Organism PK1L2_HUMAN Homo sapiens (Human) # PRINTS PR01433 POLYCYSTIN2 # PROSITE PS50041 C_TYPE_LECTIN_2 # PROSITE PS50095 PLAT # PROSITE PS50221 GPS # PROSITE PS50228 SUEL_LECTIN # PROSITE PS51111 REJ # Pfam PF00059 Lectin_C # Pfam PF01477 PLAT # Pfam PF01825 GPS # Pfam PF02010 REJ # Pfam PF02140 Gal_Lectin # Pfam PF08016 PKD_channel # Proteomes UP000005640 Chromosome 16 # RecName PK1L2_HUMAN Polycystic kidney disease protein 1-like 2 # RefSeq NP_001070248 NM_001076780.1. [Q7Z442-3] # RefSeq NP_001265352 NM_001278423.1. [Q7Z442-4] # RefSeq NP_001265354 NM_001278425.1 # RefSeq NP_443124 NM_052892.3 # SEQUENCE CAUTION PK1L2_HUMAN Sequence=AAQ73173.1; Type=Frameshift; Positions=2113, 2117; Evidence={ECO 0000305}; Sequence=BAB67772.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO 0000305}; Sequence=BAC05222.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; Sequence=BAD18529.1; Type=Erroneous translation; Note=Wrong CDS prediction.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the polycystin family. {ECO 0000305}. # SIMILARITY Contains 1 C-type lectin domain. {ECO:0000255|PROSITE- ProRule PRU00040}. # SIMILARITY Contains 1 GPS domain. {ECO:0000255|PROSITE- ProRule PRU00098}. # SIMILARITY Contains 1 PLAT domain. {ECO:0000255|PROSITE- ProRule PRU00152}. # SIMILARITY Contains 1 REJ domain. {ECO:0000255|PROSITE- ProRule PRU00511}. # SIMILARITY Contains 1 SUEL-type lectin domain. {ECO:0000255|PROSITE-ProRule PRU00260}. # SMART SM00034 CLECT # SMART SM00303 GPS # SMART SM00308 LH2 # SUBCELLULAR LOCATION PK1L2_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # SUBUNIT May interact via its C-terminus with GNAS and GNAI1. {ECO:0000269|PubMed 15203210}. # SUPFAM SSF49723 SSF49723 # SUPFAM SSF56436 SSF56436 # TISSUE SPECIFICITY Expressed in all tissues tested including brain, placenta, mammary gland, testis, lung and liver. Highest expression in skeletal muscle. Isoform 2 is expressed in heart and kidney. {ECO:0000269|PubMed 12782129}. # UCSC uc002fgi human. [Q7Z442-1] # eggNOG ENOG410JFZI Eukaryota # eggNOG ENOG410Z7Z0 LUCA BLAST swissprot:PK1L2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:PK1L2_HUMAN BioCyc ZFISH:ENSG00000140908-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000140908-MONOMER COXPRESdb 114780 http://coxpresdb.jp/data/gene/114780.shtml CleanEx HS_PKD1L2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_PKD1L2 DOI 10.1016/S0888-7543(03)00048-X http://dx.doi.org/10.1016/S0888-7543(03)00048-X DOI 10.1016/j.ygeno.2004.02.008 http://dx.doi.org/10.1016/j.ygeno.2004.02.008 DOI 10.1038/nature03187 http://dx.doi.org/10.1038/nature03187 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1093/dnares/8.4.179 http://dx.doi.org/10.1093/dnares/8.4.179 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AB067466 http://www.ebi.ac.uk/ena/data/view/AB067466 EMBL AC092718 http://www.ebi.ac.uk/ena/data/view/AC092718 EMBL AC131888 http://www.ebi.ac.uk/ena/data/view/AC131888 EMBL AK098052 http://www.ebi.ac.uk/ena/data/view/AK098052 EMBL AK127266 http://www.ebi.ac.uk/ena/data/view/AK127266 EMBL AK131378 http://www.ebi.ac.uk/ena/data/view/AK131378 EMBL AY164483 http://www.ebi.ac.uk/ena/data/view/AY164483 EMBL AY371495 http://www.ebi.ac.uk/ena/data/view/AY371495 EMBL BC004562 http://www.ebi.ac.uk/ena/data/view/BC004562 EMBL BC014157 http://www.ebi.ac.uk/ena/data/view/BC014157 Ensembl ENST00000337114 http://www.ensembl.org/id/ENST00000337114 Ensembl ENST00000527937 http://www.ensembl.org/id/ENST00000527937 Ensembl ENST00000531391 http://www.ensembl.org/id/ENST00000531391 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005262 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005262 GO_function GO:0005509 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005509 GO_function GO:0030246 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030246 GO_process GO:0050982 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050982 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 Gene3D 2.60.60.20 http://www.cathdb.info/version/latest/superfamily/2.60.60.20 Gene3D 3.10.100.10 http://www.cathdb.info/version/latest/superfamily/3.10.100.10 GeneCards PKD1L2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=PKD1L2 GeneID 114780 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=114780 GeneTree ENSGT00860000134877 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00860000134877 H-InvDB HIX0013271 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0013271 HGNC HGNC:21715 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:21715 HOVERGEN HBG108252 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG108252&db=HOVERGEN InParanoid Q7Z442 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q7Z442 IntAct Q7Z442 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q7Z442* InterPro IPR000203 http://www.ebi.ac.uk/interpro/entry/IPR000203 InterPro IPR000922 http://www.ebi.ac.uk/interpro/entry/IPR000922 InterPro IPR001024 http://www.ebi.ac.uk/interpro/entry/IPR001024 InterPro IPR001304 http://www.ebi.ac.uk/interpro/entry/IPR001304 InterPro IPR002859 http://www.ebi.ac.uk/interpro/entry/IPR002859 InterPro IPR003915 http://www.ebi.ac.uk/interpro/entry/IPR003915 InterPro IPR013122 http://www.ebi.ac.uk/interpro/entry/IPR013122 InterPro IPR014010 http://www.ebi.ac.uk/interpro/entry/IPR014010 InterPro IPR016186 http://www.ebi.ac.uk/interpro/entry/IPR016186 InterPro IPR016187 http://www.ebi.ac.uk/interpro/entry/IPR016187 Jabion 114780 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=114780 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:114780 http://www.genome.jp/dbget-bin/www_bget?hsa:114780 KEGG_Orthology KO:K04988 http://www.genome.jp/dbget-bin/www_bget?KO:K04988 MIM 607894 http://www.ncbi.nlm.nih.gov/omim/607894 PRINTS PR01433 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01433 PROSITE PS50041 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50041 PROSITE PS50095 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50095 PROSITE PS50221 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50221 PROSITE PS50228 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50228 PROSITE PS51111 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51111 PSORT swissprot:PK1L2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:PK1L2_HUMAN PSORT-B swissprot:PK1L2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:PK1L2_HUMAN PSORT2 swissprot:PK1L2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:PK1L2_HUMAN Pfam PF00059 http://pfam.xfam.org/family/PF00059 Pfam PF01477 http://pfam.xfam.org/family/PF01477 Pfam PF01825 http://pfam.xfam.org/family/PF01825 Pfam PF02010 http://pfam.xfam.org/family/PF02010 Pfam PF02140 http://pfam.xfam.org/family/PF02140 Pfam PF08016 http://pfam.xfam.org/family/PF08016 PharmGKB PA134874396 http://www.pharmgkb.org/do/serve?objId=PA134874396&objCls=Gene Phobius swissprot:PK1L2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:PK1L2_HUMAN PhylomeDB Q7Z442 http://phylomedb.org/?seqid=Q7Z442 ProteinModelPortal Q7Z442 http://www.proteinmodelportal.org/query/uniprot/Q7Z442 PubMed 11572484 http://www.ncbi.nlm.nih.gov/pubmed/11572484 PubMed 12782129 http://www.ncbi.nlm.nih.gov/pubmed/12782129 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15203210 http://www.ncbi.nlm.nih.gov/pubmed/15203210 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15616553 http://www.ncbi.nlm.nih.gov/pubmed/15616553 RefSeq NP_001070248 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001070248 RefSeq NP_001265352 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001265352 RefSeq NP_001265354 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001265354 RefSeq NP_443124 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_443124 SMART SM00034 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00034 SMART SM00303 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00303 SMART SM00308 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00308 SMR Q7Z442 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q7Z442 STRING 9606.ENSP00000469432 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000469432&targetmode=cogs SUPFAM SSF49723 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF49723 SUPFAM SSF56436 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF56436 UCSC uc002fgi http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002fgi&org=rat UniGene Hs.413525 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.413525 UniProtKB PK1L2_HUMAN http://www.uniprot.org/uniprot/PK1L2_HUMAN UniProtKB-AC Q7Z442 http://www.uniprot.org/uniprot/Q7Z442 charge swissprot:PK1L2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:PK1L2_HUMAN eggNOG ENOG410JFZI http://eggnogapi.embl.de/nog_data/html/tree/ENOG410JFZI eggNOG ENOG410Z7Z0 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410Z7Z0 epestfind swissprot:PK1L2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:PK1L2_HUMAN garnier swissprot:PK1L2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:PK1L2_HUMAN helixturnhelix swissprot:PK1L2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:PK1L2_HUMAN hmoment swissprot:PK1L2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:PK1L2_HUMAN iep swissprot:PK1L2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:PK1L2_HUMAN inforesidue swissprot:PK1L2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:PK1L2_HUMAN neXtProt NX_Q7Z442 http://www.nextprot.org/db/entry/NX_Q7Z442 octanol swissprot:PK1L2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:PK1L2_HUMAN pepcoil swissprot:PK1L2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:PK1L2_HUMAN pepdigest swissprot:PK1L2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:PK1L2_HUMAN pepinfo swissprot:PK1L2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:PK1L2_HUMAN pepnet swissprot:PK1L2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:PK1L2_HUMAN pepstats swissprot:PK1L2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:PK1L2_HUMAN pepwheel swissprot:PK1L2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:PK1L2_HUMAN pepwindow swissprot:PK1L2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:PK1L2_HUMAN sigcleave swissprot:PK1L2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:PK1L2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S26A6_HUMAN Event=Alternative splicing; Named isoforms=7; Name=1; Synonyms=SLC26A6b; IsoId=Q9BXS9-1; Sequence=Displayed; Name=2; IsoId=Q9BXS9-2; Sequence=VSP_006169; Note=No experimental confirmation available.; Name=3; IsoId=Q9BXS9-3; Sequence=VSP_040127; Name=4; Synonyms=SLC26A6a; IsoId=Q9BXS9-4; Sequence=VSP_046807, VSP_040127; Name=5; Synonyms=SLC26A6c; IsoId=Q9BXS9-5; Sequence=VSP_046807, VSP_047851, VSP_040127; Name=6; Synonyms=SLC26A6d; IsoId=Q9BXS9-6; Sequence=VSP_046807, VSP_047852; Name=7; IsoId=Q9BXS9-7; Sequence=VSP_055273, VSP_055274; Note=No experimental confirmation available.; # AltName S26A6_HUMAN Anion exchange transporter # AltName S26A6_HUMAN Pendrin-like protein 1 # BioGrid 122373 17 # CCDS CCDS43087 -. [Q9BXS9-1] # CCDS CCDS46824 -. [Q9BXS9-2] # CCDS CCDS46825 -. [Q9BXS9-3] # CCDS CCDS63628 -. [Q9BXS9-7] # ENZYME REGULATION S26A6_HUMAN Apical membrane chloride-formate exchange activity in the proximal tubules of the kidney and oxalate secretion in the duodenum are inhibited by 4,4'- diisothiocyanatostilbene-2,2'-disulfonic acid (DIDS - an inhibitor of several anion channels and transporters) (By similarity). Apical membrane chloride-bicarbonate exchange activity of the pancreatic duct is inhibited by 4,4'-diisothiocyanatostilbene- 2,2'-disulfonic acid (DIDS - an inhibitor of several anion channels and transporters). Isoform 4, isoform 5 and isoform 6 chloride, bicarbonate and sulfate transport activities are inhibited by DIDS. {ECO 0000250, ECO 0000269|PubMed 12444019, ECO 0000269|PubMed 15990874, ECO 0000269|PubMed 20501439}. # Ensembl ENST00000383733 ENSP00000373239; ENSG00000225697. [Q9BXS9-2] # Ensembl ENST00000395550 ENSP00000378920; ENSG00000225697. [Q9BXS9-1] # Ensembl ENST00000420764 ENSP00000404684; ENSG00000225697. [Q9BXS9-3] # Ensembl ENST00000455886 ENSP00000401066; ENSG00000225697. [Q9BXS9-7] # ExpressionAtlas Q9BXS9 baseline and differential # FUNCTION S26A6_HUMAN Apical membrane anion-exchanger with wide epithelial distribution that plays a role as a component of the pH buffering system for maintaining acid-base homeostasis. Acts as a versatile DIDS-sensitive inorganic and organic anion transporter that mediates the uptake of monovalent anions like chloride, bicarbonate, formate and hydroxyl ion and divalent anions like sulfate and oxalate. Function in multiple exchange modes involving pairs of these anions, which include chloride-bicarbonate, chloride-oxalate, oxalate-formate, oxalate-sulfate and chloride- formate exchange. Apical membrane chloride-bicarbonate exchanger that mediates luminal chloride absorption and bicarbonate secretion by the small intestinal brush border membrane and contributes to intracellular pH regulation in the duodenal upper villous epithelium during proton-coupled peptide absorption, possibly by providing a bicarbonate import pathway. Mediates also intestinal chloride absorption and oxalate secretion, thereby preventing hyperoxaluria and calcium oxalate urolithiasis. Transepithelial oxalate secretion, chloride-formate, chloride- oxalate and chloride-bicarbonate transport activities in the duodenum are inhibited by PKC activation in a calcium-independent manner. The apical membrane chloride-bicarbonate exchanger provides also a major route for fluid and bicarbonate secretion into the proximal tubules of the kidney as well as into the proximal part of the interlobular pancreatic ductal tree, where it mediates electrogenic chloride-bicarbonate exchange with a chloride-bicarbonate stoichiometry of 1 2, and hence will dilute and alkalinize protein-rich acinar secretion. Mediates also the transcellular sulfate absorption and oxalate secretion across the apical membrane in the duodenum and the formate ion efflux at the apical brush border of cells in the proximal tubules of kidney. Plays a role in sperm capacitation by increasing intracellular pH. # FUNCTION S26A6_HUMAN Isoform 4 Apical membrane chloride-bicarbonate exchanger. Its association with carbonic anhydrase CA2 forms a bicarbonate transport metabolon; hence maximizes the local concentration of bicarbonate at the transporter site. # GO_component GO:0005622 intracellular; IEA:GOC. # GO_component GO:0005783 endoplasmic reticulum; IEA:UniProtKB-KW. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0012506 vesicle membrane; ISS:UniProtKB. # GO_component GO:0016020 membrane; ISS:UniProtKB. # GO_component GO:0016021 integral component of membrane; IDA:UniProtKB. # GO_component GO:0016323 basolateral plasma membrane; IDA:UniProtKB. # GO_component GO:0016324 apical plasma membrane; IDA:UniProtKB. # GO_component GO:0030659 cytoplasmic vesicle membrane; IEA:UniProtKB-SubCell. # GO_component GO:0031526 brush border membrane; IDA:UniProtKB. # GO_component GO:0031988 membrane-bounded vesicle; ISS:UniProtKB. # GO_component GO:0034707 chloride channel complex; IEA:UniProtKB-KW. # GO_component GO:0097225 sperm midpiece; ISS:UniProtKB. # GO_function GO:0005254 chloride channel activity; IBA:GO_Central. # GO_function GO:0005452 inorganic anion exchanger activity; TAS:Reactome. # GO_function GO:0008271 secondary active sulfate transmembrane transporter activity; IEA:InterPro. # GO_function GO:0015106 bicarbonate transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0015108 chloride transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0015116 sulfate transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0015499 formate transmembrane transporter activity; ISS:UniProtKB. # GO_function GO:0015562 efflux transmembrane transporter activity; ISS:UniProtKB. # GO_function GO:0015659 formate uptake transmembrane transporter activity; ISS:UniProtKB. # GO_function GO:0015660 formate efflux transmembrane transporter activity; ISS:UniProtKB. # GO_function GO:0019531 oxalate transmembrane transporter activity; IMP:UniProtKB. # GO_function GO:0030165 PDZ domain binding; ISS:UniProtKB. # GO_function S26A6_HUMAN GO 0015301 anion anion antiporter activity; IDA UniProtKB. # GO_process GO:0006811 ion transport; TAS:Reactome. # GO_process GO:0006821 chloride transport; IDA:UniProtKB. # GO_process GO:0008272 sulfate transport; IMP:UniProtKB. # GO_process GO:0015701 bicarbonate transport; IDA:UniProtKB. # GO_process GO:0015724 formate transport; ISS:UniProtKB. # GO_process GO:0015797 mannitol transport; ISS:UniProtKB. # GO_process GO:0019532 oxalate transport; IMP:UniProtKB. # GO_process GO:0030321 transepithelial chloride transport; IMP:UniProtKB. # GO_process GO:0038166 angiotensin-activated signaling pathway; IDA:UniProtKB. # GO_process GO:0042045 epithelial fluid transport; ISS:UniProtKB. # GO_process GO:0042391 regulation of membrane potential; IBA:GO_Central. # GO_process GO:0046724 oxalic acid secretion; ISS:UniProtKB. # GO_process GO:0048240 sperm capacitation; ISS:UniProtKB. # GO_process GO:0050892 intestinal absorption; ISS:UniProtKB. # GO_process GO:0051453 regulation of intracellular pH; IDA:UniProtKB. # GO_process GO:0051454 intracellular pH elevation; ISS:UniProtKB. # GO_process GO:0070528 protein kinase C signaling; IDA:UniProtKB. # GO_process GO:0070633 transepithelial transport; ISS:UniProtKB. # GO_process GO:0071320 cellular response to cAMP; ISS:UniProtKB. # GO_process GO:0071332 cellular response to fructose stimulus; ISS:UniProtKB. # GO_process GO:0071346 cellular response to interferon-gamma; IDA:UniProtKB. # GO_process GO:2001150 positive regulation of dipeptide transmembrane transport; ISS:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005622 intracellular # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0021700 developmental maturation # GOslim_process GO:0042592 homeostatic process # Gene3D 3.30.750.24 -; 2. # Genevisible Q9BXS9 HS # HGNC HGNC:14472 SLC26A6 # INDUCTION Down-regulated by pro-inflammatory cytokine IFN gamma. {ECO:0000269|PubMed 18655181}. # InterPro IPR001902 SLC26A/SulP_fam # InterPro IPR002645 STAS_dom # InterPro IPR011547 SLC26A/SulP_dom # InterPro IPR018045 S04_transporter_CS # InterPro IPR030323 SLC26A6 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02001 Solute carrier family # KEGG_Pathway ko04978 Mineral absorption # MIM 610068 gene # Organism S26A6_HUMAN Homo sapiens (Human) # PANTHER PTHR11814 PTHR11814; 2 # PANTHER PTHR11814:SF113 PTHR11814:SF113; 2 # PROSITE PS01130 SLC26A # PROSITE PS50801 STAS # PTM S26A6_HUMAN Phosphorylated on serine residues by PKC; the phosphorylation disrupts interaction with carbonic anhydrase CA2 and reduces bicarbonate transport activity in a phorbol myristate acetate (PMA)-induced manner. {ECO 0000269|PubMed 15990874}. # Pfam PF00916 Sulfate_transp # Pfam PF01740 STAS # Proteomes UP000005640 Chromosome 3 # Reactome R-HSA-427601 Multifunctional anion exchangers # RecName S26A6_HUMAN Solute carrier family 26 member 6 # RefSeq NP_001035544 NM_001040454.1 # RefSeq NP_001268661 NM_001281732.1. [Q9BXS9-7] # RefSeq NP_001268662 NM_001281733.1 # RefSeq NP_075062 NM_022911.2. [Q9BXS9-1] # RefSeq NP_599025 NM_134263.2. [Q9BXS9-3] # RefSeq NP_602298 NM_134426.2. [Q9BXS9-2] # SIMILARITY Belongs to the SLC26A/SulP transporter (TC 2.A.53) family. {ECO 0000305}. # SIMILARITY Contains 1 STAS domain. {ECO:0000255|PROSITE- ProRule PRU00198}. # SUBCELLULAR LOCATION S26A6_HUMAN Cell membrane; Multi-pass membrane protein. Membrane; Multi-pass membrane protein. Apical cell membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. Cytoplasmic vesicle membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. Microsome {ECO 0000250}. Note=Localized in sperm membranes. Colocalizes with CFTR at the midpiece of sperm tail. Localizes to the apical membrane brush border of epithelial cells in the proximal tubules of kidney, of enterocytes of the small intestine and of gastric parietal cells in the stomach. May be translocated from the cytosolic surface of the cell membrane to the intracellular space by PKC in phorbol myristate acetate (PMA)- induced cells (By similarity). Colocalized with CA2 at the surface of the cell membrane in order to form a bicarbonate transport metabolon; colocalization is reduced in phorbol myristate acetate (PMA)-induced cells. {ECO 0000250}. # SUBCELLULAR LOCATION S26A6_HUMAN Isoform 4 Cell membrane; Multi-pass membrane protein. Apical cell membrane; Multi-pass membrane protein. Basolateral cell membrane; Multi-pass membrane protein. Note=Localizes to the apical and basolateral surfaces of tubular wall cells in kidney and in the brush border of pancreatic duct cells. # SUBCELLULAR LOCATION S26A6_HUMAN Isoform 5 Cell membrane; Multi-pass membrane protein. # SUBCELLULAR LOCATION S26A6_HUMAN Isoform 6 Cell membrane; Multi-pass membrane protein. # SUBUNIT S26A6_HUMAN Interacts (via C-terminal domain) with PDZK1 (via C- terminal PDZ domain); the interaction induces chloride and oxalate exchange transport. Interacts with CFTR, SLC26A3 and SLC9A3R1 (By similarity). Isoform 4 interacts (via C-terminal cytoplasmic domain) with CA2; the interaction stimulates chloride-bicarbonate exchange activity. Isoform 4 and isoform 5 interact with SLC9A3R1 (via the PDZ domains). Isoform 4 and isoform 5 interact with SLC9A3R2 (via the PDZ domains). Interacts with AHCYL1; the interaction increases SLC26A6 activity (By similarity). {ECO 0000250|UniProtKB Q9BXS9, ECO 0000269|PubMed 12444019, ECO 0000269|PubMed 15990874}. # SUPFAM SSF52091 SSF52091; 2 # TCDB 2.A.53.2 the sulfate permease (sulp) family # TIGRFAMs TIGR00815 sulP # TISSUE SPECIFICITY S26A6_HUMAN Ubiquitous. Highest levels in kidney and pancreas. Lower expression in heart, skeletal muscle, liver and placenta. Also found in lung and brain. Isoform 4 is ubiquitously expressed. Isoform 6 is expressed in heart, brain, placenta, lung, liver, kidney, pancreas, spleen, thymus, prostate, testis and ovary. Isoform 5 is expressed weakly in placenta, lung, liver and pancreas. {ECO 0000269|PubMed 11087667, ECO 0000269|PubMed 11247665}. # UCSC uc003cug human. [Q9BXS9-1] # eggNOG COG0659 LUCA # eggNOG KOG0236 Eukaryota BLAST swissprot:S26A6_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S26A6_HUMAN BioCyc ZFISH:G66-32046-MONOMER http://biocyc.org/getid?id=ZFISH:G66-32046-MONOMER COXPRESdb 65010 http://coxpresdb.jp/data/gene/65010.shtml CleanEx HS_SLC26A6 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC26A6 DOI 10.1002/jcb.21842 http://dx.doi.org/10.1002/jcb.21842 DOI 10.1006/geno.2000.6355 http://dx.doi.org/10.1006/geno.2000.6355 DOI 10.1006/geno.2000.6445 http://dx.doi.org/10.1006/geno.2000.6445 DOI 10.1016/j.cell.2006.09.026 http://dx.doi.org/10.1016/j.cell.2006.09.026 DOI 10.1038/nature04728 http://dx.doi.org/10.1038/nature04728 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1038/sj.emboj.7600736 http://dx.doi.org/10.1038/sj.emboj.7600736 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/scisignal.2000007 http://dx.doi.org/10.1126/scisignal.2000007 DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 DOI 10.1152/ajpcell.00270.2002 http://dx.doi.org/10.1152/ajpcell.00270.2002 DOI 10.1152/ajpgi.00251.2009 http://dx.doi.org/10.1152/ajpgi.00251.2009 DOI 10.1152/ajprenal.00079.2002 http://dx.doi.org/10.1152/ajprenal.00079.2002 EMBL AB033288 http://www.ebi.ac.uk/ena/data/view/AB033288 EMBL AC121252 http://www.ebi.ac.uk/ena/data/view/AC121252 EMBL AF279265 http://www.ebi.ac.uk/ena/data/view/AF279265 EMBL AF288410 http://www.ebi.ac.uk/ena/data/view/AF288410 EMBL AF416721 http://www.ebi.ac.uk/ena/data/view/AF416721 EMBL AK297695 http://www.ebi.ac.uk/ena/data/view/AK297695 EMBL BC017697 http://www.ebi.ac.uk/ena/data/view/BC017697 EMBL CH471055 http://www.ebi.ac.uk/ena/data/view/CH471055 EMBL CH471055 http://www.ebi.ac.uk/ena/data/view/CH471055 Ensembl ENST00000383733 http://www.ensembl.org/id/ENST00000383733 Ensembl ENST00000395550 http://www.ensembl.org/id/ENST00000395550 Ensembl ENST00000420764 http://www.ensembl.org/id/ENST00000420764 Ensembl ENST00000455886 http://www.ensembl.org/id/ENST00000455886 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005622 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005622 GO_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0012506 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0012506 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0016323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016323 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:0030659 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030659 GO_component GO:0031526 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031526 GO_component GO:0031988 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031988 GO_component GO:0034707 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034707 GO_component GO:0097225 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097225 GO_function GO:0005254 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005254 GO_function GO:0005452 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005452 GO_function GO:0008271 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008271 GO_function GO:0015106 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015106 GO_function GO:0015108 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015108 GO_function GO:0015116 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015116 GO_function GO:0015301 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015301 GO_function GO:0015499 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015499 GO_function GO:0015562 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015562 GO_function GO:0015659 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015659 GO_function GO:0015660 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015660 GO_function GO:0019531 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019531 GO_function GO:0030165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030165 GO_process GO:0006811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006811 GO_process GO:0006821 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006821 GO_process GO:0008272 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008272 GO_process GO:0015701 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015701 GO_process GO:0015724 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015724 GO_process GO:0015797 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015797 GO_process GO:0019532 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019532 GO_process GO:0030321 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030321 GO_process GO:0038166 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0038166 GO_process GO:0042045 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042045 GO_process GO:0042391 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042391 GO_process GO:0046724 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046724 GO_process GO:0048240 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048240 GO_process GO:0050892 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050892 GO_process GO:0051453 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051453 GO_process GO:0051454 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051454 GO_process GO:0070528 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070528 GO_process GO:0070633 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070633 GO_process GO:0071320 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071320 GO_process GO:0071332 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071332 GO_process GO:0071346 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071346 GO_process GO:2001150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2001150 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005622 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005622 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0021700 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021700 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 Gene3D 3.30.750.24 http://www.cathdb.info/version/latest/superfamily/3.30.750.24 GeneCards SLC26A6 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC26A6 GeneID 65010 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=65010 GeneTree ENSGT00760000119026 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119026 HGNC HGNC:14472 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:14472 HOGENOM HOG000006546 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000006546&db=HOGENOM6 HOVERGEN HBG000639 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG000639&db=HOVERGEN HPA HPA048363 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA048363 InParanoid Q9BXS9 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9BXS9 InterPro IPR001902 http://www.ebi.ac.uk/interpro/entry/IPR001902 InterPro IPR002645 http://www.ebi.ac.uk/interpro/entry/IPR002645 InterPro IPR011547 http://www.ebi.ac.uk/interpro/entry/IPR011547 InterPro IPR018045 http://www.ebi.ac.uk/interpro/entry/IPR018045 InterPro IPR030323 http://www.ebi.ac.uk/interpro/entry/IPR030323 Jabion 65010 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=65010 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:65010 http://www.genome.jp/dbget-bin/www_bget?hsa:65010 KEGG_Orthology KO:K14704 http://www.genome.jp/dbget-bin/www_bget?KO:K14704 KEGG_Pathway ko04978 http://www.genome.jp/kegg-bin/show_pathway?ko04978 MIM 610068 http://www.ncbi.nlm.nih.gov/omim/610068 OMA NNVEDCK http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=NNVEDCK OrthoDB EOG091G07RT http://cegg.unige.ch/orthodb/results?searchtext=EOG091G07RT PANTHER PTHR11814 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11814 PANTHER PTHR11814:SF113 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11814:SF113 PROSITE PS01130 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS01130 PROSITE PS50801 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50801 PSORT swissprot:S26A6_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S26A6_HUMAN PSORT-B swissprot:S26A6_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S26A6_HUMAN PSORT2 swissprot:S26A6_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S26A6_HUMAN Pfam PF00916 http://pfam.xfam.org/family/PF00916 Pfam PF01740 http://pfam.xfam.org/family/PF01740 PharmGKB PA37889 http://www.pharmgkb.org/do/serve?objId=PA37889&objCls=Gene Phobius swissprot:S26A6_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S26A6_HUMAN PhylomeDB Q9BXS9 http://phylomedb.org/?seqid=Q9BXS9 ProteinModelPortal Q9BXS9 http://www.proteinmodelportal.org/query/uniprot/Q9BXS9 PubMed 11087667 http://www.ncbi.nlm.nih.gov/pubmed/11087667 PubMed 11247665 http://www.ncbi.nlm.nih.gov/pubmed/11247665 PubMed 12217875 http://www.ncbi.nlm.nih.gov/pubmed/12217875 PubMed 12444019 http://www.ncbi.nlm.nih.gov/pubmed/12444019 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15990874 http://www.ncbi.nlm.nih.gov/pubmed/15990874 PubMed 16641997 http://www.ncbi.nlm.nih.gov/pubmed/16641997 PubMed 17081983 http://www.ncbi.nlm.nih.gov/pubmed/17081983 PubMed 18655181 http://www.ncbi.nlm.nih.gov/pubmed/18655181 PubMed 19690332 http://www.ncbi.nlm.nih.gov/pubmed/19690332 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 20501439 http://www.ncbi.nlm.nih.gov/pubmed/20501439 Reactome R-HSA-427601 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-427601 RefSeq NP_001035544 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001035544 RefSeq NP_001268661 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001268661 RefSeq NP_001268662 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001268662 RefSeq NP_075062 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_075062 RefSeq NP_599025 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_599025 RefSeq NP_602298 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_602298 STRING 9606.ENSP00000378920 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000378920&targetmode=cogs SUPFAM SSF52091 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52091 TCDB 2.A.53.2 http://www.tcdb.org/search/result.php?tc=2.A.53.2 TIGRFAMs TIGR00815 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00815 UCSC uc003cug http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003cug&org=rat UniGene Hs.631925 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.631925 UniGene Hs.663208 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.663208 UniProtKB S26A6_HUMAN http://www.uniprot.org/uniprot/S26A6_HUMAN UniProtKB-AC Q9BXS9 http://www.uniprot.org/uniprot/Q9BXS9 charge swissprot:S26A6_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S26A6_HUMAN eggNOG COG0659 http://eggnogapi.embl.de/nog_data/html/tree/COG0659 eggNOG KOG0236 http://eggnogapi.embl.de/nog_data/html/tree/KOG0236 epestfind swissprot:S26A6_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S26A6_HUMAN garnier swissprot:S26A6_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S26A6_HUMAN helixturnhelix swissprot:S26A6_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S26A6_HUMAN hmoment swissprot:S26A6_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S26A6_HUMAN iep swissprot:S26A6_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S26A6_HUMAN inforesidue swissprot:S26A6_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S26A6_HUMAN neXtProt NX_Q9BXS9 http://www.nextprot.org/db/entry/NX_Q9BXS9 octanol swissprot:S26A6_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S26A6_HUMAN pepcoil swissprot:S26A6_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S26A6_HUMAN pepdigest swissprot:S26A6_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S26A6_HUMAN pepinfo swissprot:S26A6_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S26A6_HUMAN pepnet swissprot:S26A6_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S26A6_HUMAN pepstats swissprot:S26A6_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S26A6_HUMAN pepwheel swissprot:S26A6_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S26A6_HUMAN pepwindow swissprot:S26A6_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S26A6_HUMAN sigcleave swissprot:S26A6_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S26A6_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS CNGB1_HUMAN Event=Alternative splicing; Named isoforms=4; Comment=There is no evidence for an ortholog to bovine GARP1 in the human genome.; Name=RCNC2B; IsoId=Q14028-1; Sequence=Displayed; Name=RCNC2A; IsoId=Q14028-2; Sequence=VSP_001110; Name=GARP2; Synonyms=GARP; IsoId=Q14028-3; Sequence=VSP_037921, VSP_037922; Note=In the rod cells, the CNGB1 locus encodes the cyclic nucleotide-gated cation channel beta-1 subunit and several glutamic-acid-rich proteins (GARPs).; Name=4; IsoId=Q14028-4; Sequence=VSP_053421; # AltName CNGB1_HUMAN Cyclic nucleotide-gated cation channel 4 # AltName CNGB1_HUMAN Cyclic nucleotide-gated cation channel gamma # AltName CNGB1_HUMAN Cyclic nucleotide-gated cation channel modulatory subunit # AltName CNGB1_HUMAN Cyclic nucleotide-gated channel beta-1 # AltName CNGB1_HUMAN Glutamic acid-rich protein # BioGrid 107658 3 # CCDS CCDS42169 -. [Q14028-1] # CCDS CCDS45495 -. [Q14028-3] # CCDS CCDS67042 -. [Q14028-4] # DISEASE CNGB1_HUMAN Retinitis pigmentosa 45 (RP45) [MIM 613767] A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO 0000269|PubMed 11379879}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000251102 ENSP00000251102; ENSG00000070729. [Q14028-1] # Ensembl ENST00000311183 ENSP00000311670; ENSG00000070729. [Q14028-3] # Ensembl ENST00000564448 ENSP00000454633; ENSG00000070729. [Q14028-4] # ExpressionAtlas Q14028 baseline and differential # FUNCTION CNGB1_HUMAN Isoform GARP2 is a high affinity rod photoreceptor phosphodiesterase (PDE6)-binding protein that modulates its catalytic properties it is a regulator of spontaneous activation of rod PDE6, thereby serving to lower rod photoreceptor 'dark noise' and allowing these sensory cells to operate at the single photon detection limit. # FUNCTION CNGB1_HUMAN Subunit of cyclic nucleotide-gated (CNG) channels, nonselective cation channels, which play important roles in both visual and olfactory signal transduction. When associated with CNGA1, it is involved in the regulation of ion flow into the rod photoreceptor outer segment (ROS), in response to light-induced alteration of the levels of intracellular cGMP. # GO_component GO:0000139 Golgi membrane; TAS:Reactome. # GO_component GO:0001750 photoreceptor outer segment; IEA:Ensembl. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0017071 intracellular cyclic nucleotide activated cation channel complex; IEA:Ensembl. # GO_component GO:0030660 Golgi-associated vesicle membrane; TAS:Reactome. # GO_component GO:0043195 terminal bouton; IEA:Ensembl. # GO_component GO:0060170 ciliary membrane; TAS:Reactome. # GO_component GO:1902495 transmembrane transporter complex; IDA:UniProtKB. # GO_function GO:0005222 intracellular cAMP activated cation channel activity; IBA:GO_Central. # GO_function GO:0005223 intracellular cGMP activated cation channel activity; IDA:UniProtKB. # GO_function GO:0005249 voltage-gated potassium channel activity; IBA:GO_Central. # GO_function GO:0015276 ligand-gated ion channel activity; TAS:ProtInc. # GO_function GO:0030552 cAMP binding; IEA:UniProtKB-KW. # GO_function GO:0030553 cGMP binding; IDA:UniProtKB. # GO_process GO:0001895 retina homeostasis; IMP:UniProtKB. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0006812 cation transport; IDA:UniProtKB. # GO_process GO:0007601 visual perception; TAS:ProtInc. # GO_process GO:0007608 sensory perception of smell; IEA:UniProtKB-KW. # GO_process GO:0016056 rhodopsin mediated signaling pathway; TAS:Reactome. # GO_process GO:0022400 regulation of rhodopsin mediated signaling pathway; TAS:Reactome. # GO_process GO:0033365 protein localization to organelle; IEA:Ensembl. # GO_process GO:0035845 photoreceptor cell outer segment organization; IEA:Ensembl. # GO_process GO:0042391 regulation of membrane potential; IBA:GO_Central. # GO_process GO:0045494 photoreceptor cell maintenance; IEA:Ensembl. # GO_process GO:0050908 detection of light stimulus involved in visual perception; IMP:UniProtKB. # GO_process GO:0051290 protein heterotetramerization; IEA:Ensembl. # GO_process GO:0051480 regulation of cytosolic calcium ion concentration; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0050877 neurological system process # Gene3D 2.60.120.10 -; 1. # Genevisible Q14028 HS # HGNC HGNC:2151 CNGB1 # INTERACTION CNGB1_HUMAN Q5ICW4 GRB14 (xeno); NbExp=2; IntAct=EBI-7959609, EBI-7639273; # IntAct Q14028 2 # InterPro IPR000595 cNMP-bd_dom # InterPro IPR014710 RmlC-like_jellyroll # InterPro IPR018488 cNMP-bd_CS # InterPro IPR018490 cNMP-bd-like # InterPro IPR032944 CNGB1 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00527 [Inherited metabolic disease; Nervous system disease; Eye disease] Retinitis pigmentosa (RP) # KEGG_Pathway ko04740 Olfactory transduction # KEGG_Pathway ko04744 Phototransduction # MIM 600724 gene # MIM 613767 phenotype # Organism CNGB1_HUMAN Homo sapiens (Human) # Orphanet 791 Retinitis pigmentosa # PANTHER PTHR10217:SF386 PTHR10217:SF386 # PIR A57652 A57652 # PIR S32538 S32538 # PIR S69275 S69275 # PROSITE PS00888 CNMP_BINDING_1 # PROSITE PS00889 CNMP_BINDING_2 # PROSITE PS50042 CNMP_BINDING_3 # Pfam PF00027 cNMP_binding # Proteomes UP000005640 Chromosome 16 # Reactome R-HSA-2485179 Activation of the phototransduction cascade # Reactome R-HSA-2514859 Inactivation, recovery and regulation of the phototransduction cascade # Reactome R-HSA-5620916 VxPx cargo-targeting to cilium # RecName CNGB1_HUMAN Cyclic nucleotide-gated cation channel beta-1 # RefSeq NP_001129111 NM_001135639.1. [Q14028-3] # RefSeq NP_001273059 NM_001286130.1. [Q14028-4] # RefSeq NP_001288 NM_001297.4. [Q14028-1] # SIMILARITY Belongs to the cyclic nucleotide-gated cation channel (TC 1.A.1.5) family. CNGB1 subfamily. {ECO 0000305}. # SIMILARITY Contains 1 cyclic nucleotide-binding domain. {ECO:0000255|PROSITE-ProRule PRU00060}. # SMART SM00100 cNMP # SUBCELLULAR LOCATION CNGB1_HUMAN Membrane; Multi-pass membrane protein. # SUBUNIT Tetramer formed of three CNGA1 and one CNGB1 modulatory subunits. {ECO 0000250}. # SUPFAM SSF51206 SSF51206 # TCDB 1.A.1.5 the voltage-gated ion channel (vic) superfamily # UCSC uc002emt human. [Q14028-1] # eggNOG ENOG410ZJ5U LUCA # eggNOG KOG0499 Eukaryota BLAST swissprot:CNGB1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CNGB1_HUMAN BioCyc ZFISH:ENSG00000070729-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000070729-MONOMER COXPRESdb 1258 http://coxpresdb.jp/data/gene/1258.shtml CleanEx HS_CNGB1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CNGB1 DOI 10.1006/geno.1995.1102 http://dx.doi.org/10.1006/geno.1995.1102 DOI 10.1007/s004390100496 http://dx.doi.org/10.1007/s004390100496 DOI 10.1016/0014-5793(96)00588-1 http://dx.doi.org/10.1016/0014-5793(96)00588-1 DOI 10.1016/S0378-1119(00)00023-8 http://dx.doi.org/10.1016/S0378-1119(00)00023-8 DOI 10.1038/362764a0 http://dx.doi.org/10.1038/362764a0 DOI 10.1038/nature03187 http://dx.doi.org/10.1038/nature03187 DOI 10.1038/nn1266 http://dx.doi.org/10.1038/nn1266 DOI 10.1074/jbc.273.15.9148 http://dx.doi.org/10.1074/jbc.273.15.9148 DOI 10.1074/jbc.M505012200 http://dx.doi.org/10.1074/jbc.M505012200 DOI 10.1074/jbc.M507488200 http://dx.doi.org/10.1074/jbc.M507488200 EMBL AC010543 http://www.ebi.ac.uk/ena/data/view/AC010543 EMBL AF042498 http://www.ebi.ac.uk/ena/data/view/AF042498 EMBL CH471092 http://www.ebi.ac.uk/ena/data/view/CH471092 EMBL L15296 http://www.ebi.ac.uk/ena/data/view/L15296 EMBL L15297 http://www.ebi.ac.uk/ena/data/view/L15297 EMBL U18945 http://www.ebi.ac.uk/ena/data/view/U18945 EMBL U58837 http://www.ebi.ac.uk/ena/data/view/U58837 Ensembl ENST00000251102 http://www.ensembl.org/id/ENST00000251102 Ensembl ENST00000311183 http://www.ensembl.org/id/ENST00000311183 Ensembl ENST00000564448 http://www.ensembl.org/id/ENST00000564448 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000139 GO_component GO:0001750 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001750 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0017071 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0017071 GO_component GO:0030660 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030660 GO_component GO:0043195 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043195 GO_component GO:0060170 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060170 GO_component GO:1902495 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902495 GO_function GO:0005222 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005222 GO_function GO:0005223 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005223 GO_function GO:0005249 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005249 GO_function GO:0015276 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015276 GO_function GO:0030552 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030552 GO_function GO:0030553 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030553 GO_process GO:0001895 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001895 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0006812 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006812 GO_process GO:0007601 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007601 GO_process GO:0007608 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007608 GO_process GO:0016056 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016056 GO_process GO:0022400 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022400 GO_process GO:0033365 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033365 GO_process GO:0035845 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035845 GO_process GO:0042391 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042391 GO_process GO:0045494 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045494 GO_process GO:0050908 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050908 GO_process GO:0051290 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051290 GO_process GO:0051480 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051480 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 Gene3D 2.60.120.10 http://www.cathdb.info/version/latest/superfamily/2.60.120.10 GeneCards CNGB1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CNGB1 GeneID 1258 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=1258 GeneTree ENSGT00760000118772 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118772 H-InvDB HIX0038536 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0038536 HGNC HGNC:2151 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:2151 HOGENOM HOG000231425 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231425&db=HOGENOM6 HOVERGEN HBG051038 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG051038&db=HOVERGEN HPA HPA039159 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA039159 HPA HPA060355 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA060355 InParanoid Q14028 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q14028 IntAct Q14028 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q14028* InterPro IPR000595 http://www.ebi.ac.uk/interpro/entry/IPR000595 InterPro IPR014710 http://www.ebi.ac.uk/interpro/entry/IPR014710 InterPro IPR018488 http://www.ebi.ac.uk/interpro/entry/IPR018488 InterPro IPR018490 http://www.ebi.ac.uk/interpro/entry/IPR018490 InterPro IPR032944 http://www.ebi.ac.uk/interpro/entry/IPR032944 Jabion 1258 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=1258 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00527 http://www.genome.jp/dbget-bin/www_bget?H00527 KEGG_Gene hsa:1258 http://www.genome.jp/dbget-bin/www_bget?hsa:1258 KEGG_Orthology KO:K04952 http://www.genome.jp/dbget-bin/www_bget?KO:K04952 KEGG_Pathway ko04740 http://www.genome.jp/kegg-bin/show_pathway?ko04740 KEGG_Pathway ko04744 http://www.genome.jp/kegg-bin/show_pathway?ko04744 MIM 600724 http://www.ncbi.nlm.nih.gov/omim/600724 MIM 613767 http://www.ncbi.nlm.nih.gov/omim/613767 MINT MINT-4853474 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-4853474 OMA WEDAHQD http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=WEDAHQD Orphanet 791 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=791 OrthoDB EOG091G03EW http://cegg.unige.ch/orthodb/results?searchtext=EOG091G03EW PANTHER PTHR10217:SF386 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10217:SF386 PROSITE PS00888 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00888 PROSITE PS00889 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00889 PROSITE PS50042 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50042 PSORT swissprot:CNGB1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CNGB1_HUMAN PSORT-B swissprot:CNGB1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CNGB1_HUMAN PSORT2 swissprot:CNGB1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CNGB1_HUMAN Pfam PF00027 http://pfam.xfam.org/family/PF00027 PharmGKB PA26662 http://www.pharmgkb.org/do/serve?objId=PA26662&objCls=Gene Phobius swissprot:CNGB1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CNGB1_HUMAN PhylomeDB Q14028 http://phylomedb.org/?seqid=Q14028 ProteinModelPortal Q14028 http://www.proteinmodelportal.org/query/uniprot/Q14028 PubMed 10717482 http://www.ncbi.nlm.nih.gov/pubmed/10717482 PubMed 11379879 http://www.ncbi.nlm.nih.gov/pubmed/11379879 PubMed 15195096 http://www.ncbi.nlm.nih.gov/pubmed/15195096 PubMed 15616553 http://www.ncbi.nlm.nih.gov/pubmed/15616553 PubMed 16280326 http://www.ncbi.nlm.nih.gov/pubmed/16280326 PubMed 16407240 http://www.ncbi.nlm.nih.gov/pubmed/16407240 PubMed 7590744 http://www.ncbi.nlm.nih.gov/pubmed/7590744 PubMed 7682292 http://www.ncbi.nlm.nih.gov/pubmed/7682292 PubMed 8766832 http://www.ncbi.nlm.nih.gov/pubmed/8766832 PubMed 9535905 http://www.ncbi.nlm.nih.gov/pubmed/9535905 Reactome R-HSA-2485179 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2485179 Reactome R-HSA-2514859 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2514859 Reactome R-HSA-5620916 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5620916 RefSeq NP_001129111 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001129111 RefSeq NP_001273059 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001273059 RefSeq NP_001288 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001288 SMART SM00100 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00100 SMR Q14028 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q14028 STRING 9606.ENSP00000251102 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000251102&targetmode=cogs SUPFAM SSF51206 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF51206 TCDB 1.A.1.5 http://www.tcdb.org/search/result.php?tc=1.A.1.5 UCSC uc002emt http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002emt&org=rat UniGene Hs.147062 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.147062 UniProtKB CNGB1_HUMAN http://www.uniprot.org/uniprot/CNGB1_HUMAN UniProtKB-AC Q14028 http://www.uniprot.org/uniprot/Q14028 charge swissprot:CNGB1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CNGB1_HUMAN eggNOG ENOG410ZJ5U http://eggnogapi.embl.de/nog_data/html/tree/ENOG410ZJ5U eggNOG KOG0499 http://eggnogapi.embl.de/nog_data/html/tree/KOG0499 epestfind swissprot:CNGB1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CNGB1_HUMAN garnier swissprot:CNGB1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CNGB1_HUMAN helixturnhelix swissprot:CNGB1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CNGB1_HUMAN hmoment swissprot:CNGB1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CNGB1_HUMAN iep swissprot:CNGB1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CNGB1_HUMAN inforesidue swissprot:CNGB1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CNGB1_HUMAN neXtProt NX_Q14028 http://www.nextprot.org/db/entry/NX_Q14028 octanol swissprot:CNGB1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CNGB1_HUMAN pepcoil swissprot:CNGB1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CNGB1_HUMAN pepdigest swissprot:CNGB1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CNGB1_HUMAN pepinfo swissprot:CNGB1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CNGB1_HUMAN pepnet swissprot:CNGB1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CNGB1_HUMAN pepstats swissprot:CNGB1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CNGB1_HUMAN pepwheel swissprot:CNGB1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CNGB1_HUMAN pepwindow swissprot:CNGB1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CNGB1_HUMAN sigcleave swissprot:CNGB1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CNGB1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS FXYD3_HUMAN Event=Alternative splicing; Named isoforms=5; Name=1; IsoId=Q14802-1; Sequence=Displayed; Name=2; IsoId=Q14802-2; Sequence=VSP_034598; Name=3; IsoId=Q14802-3; Sequence=VSP_045716; Note=No experimental confirmation available.; Name=4; IsoId=Q14802-4; Sequence=VSP_034598, VSP_047287; Note=No experimental confirmation available. Gene prediction based on EST data.; Name=5; IsoId=Q14802-5; Sequence=VSP_047286; Note=No experimental confirmation available. Gene prediction based on EST data.; # AltName FXYD3_HUMAN Chloride conductance inducer protein Mat-8 # AltName FXYD3_HUMAN Mammary tumor 8 kDa protein # AltName FXYD3_HUMAN Phospholemman-like # BioGrid 111364 7 # CCDS CCDS12442 -. [Q14802-1] # CCDS CCDS12443 -. [Q14802-2] # CCDS CCDS46048 -. [Q14802-3] # CCDS CCDS46049 -. [Q14802-4] # CCDS CCDS46050 -. [Q14802-5] # ChiTaRS FXYD3 human # Ensembl ENST00000344013 ENSP00000339499; ENSG00000089356. [Q14802-2] # Ensembl ENST00000346446 ENSP00000328259; ENSG00000089356. [Q14802-2] # Ensembl ENST00000435734 ENSP00000389770; ENSG00000089356. [Q14802-2] # Ensembl ENST00000603181 ENSP00000474851; ENSG00000089356. [Q14802-1] # Ensembl ENST00000603449 ENSP00000474055; ENSG00000089356. [Q14802-5] # Ensembl ENST00000604255 ENSP00000473929; ENSG00000089356. [Q14802-3] # Ensembl ENST00000604404 ENSP00000474438; ENSG00000089356. [Q14802-1] # Ensembl ENST00000604621 ENSP00000474526; ENSG00000089356. [Q14802-1] # Ensembl ENST00000605552 ENSP00000474855; ENSG00000089356. [Q14802-5] # Ensembl ENST00000605677 ENSP00000474622; ENSG00000089356. [Q14802-4] # ExpressionAtlas Q14802 baseline and differential # FUNCTION FXYD3_HUMAN Induces a hyperpolarization-activated chloride current when expressed in Xenopus oocytes. May be a modulator capable of activating endogenous oocyte channels. # GO_component GO:0005789 endoplasmic reticulum membrane; IEA:Ensembl. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0034707 chloride channel complex; IEA:UniProtKB-KW. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0005254 chloride channel activity; TAS:ProtInc. # GO_function GO:0017080 sodium channel regulator activity; IBA:GO_Central. # GO_process GO:0006821 chloride transport; TAS:ProtInc. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0050790 regulation of catalytic activity; IEA:Ensembl. # GO_process GO:1903779 regulation of cardiac conduction; TAS:Reactome. # GO_process GO:2000649 regulation of sodium ion transmembrane transporter activity; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0055085 transmembrane transport # Genevisible Q14802 HS # HGNC HGNC:4027 FXYD3 # IntAct Q14802 8 # InterPro IPR000272 Ion-transport_regulator_FXYD # KEGG_Brite ko02000 Transporters # MIM 604996 gene # MISCELLANEOUS FXYD3_HUMAN Marker of a cell type preferentially transformed by neu or ras oncoprotein. # Organism FXYD3_HUMAN Homo sapiens (Human) # PIR A55571 A55571 # PROSITE PS01310 FXYD # Pfam PF02038 ATP1G1_PLM_MAT8 # ProDom PD005989 PD005989 # Proteomes UP000005640 Chromosome 19 # Reactome R-HSA-5578775 Ion homeostasis # Reactome R-HSA-936837 Ion transport by P-type ATPases # RecName FXYD3_HUMAN FXYD domain-containing ion transport regulator 3 # RefSeq NP_001129479 NM_001136007.1. [Q14802-3] # RefSeq NP_001129480 NM_001136008.1. [Q14802-4] # RefSeq NP_001129481 NM_001136009.1. [Q14802-5] # RefSeq NP_001129482 NM_001136010.1. [Q14802-5] # RefSeq NP_001129483 NM_001136011.1. [Q14802-1] # RefSeq NP_001129484 NM_001136012.1. [Q14802-2] # RefSeq NP_005962 NM_005971.3. [Q14802-1] # RefSeq NP_068710 NM_021910.2. [Q14802-2] # RefSeq XP_005259053 XM_005258996.4. [Q14802-2] # RefSeq XP_016882366 XM_017026877.1. [Q14802-1] # RefSeq XP_016882367 XM_017026878.1. [Q14802-1] # SIMILARITY Belongs to the FXYD family. {ECO 0000305}. # SUBCELLULAR LOCATION FXYD3_HUMAN Membrane {ECO 0000305}; Single-pass type I membrane protein {ECO 0000305}. # TISSUE SPECIFICITY FXYD3_HUMAN Expressed in a subset of human breast tumors. # UCSC uc002nxv human. [Q14802-1] # WEB RESOURCE FXYD3_HUMAN Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http //atlasgeneticsoncology.org/Genes/FXYD3ID43704ch19q13.html"; # eggNOG ENOG410J4PQ Eukaryota # eggNOG ENOG4111AWX LUCA BLAST swissprot:FXYD3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:FXYD3_HUMAN BioCyc ZFISH:ENSG00000089356-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000089356-MONOMER COXPRESdb 5349 http://coxpresdb.jp/data/gene/5349.shtml CleanEx HS_FXYD3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_FXYD3 DOI 10.1038/nature02399 http://dx.doi.org/10.1038/nature02399 DOI 10.1074/jbc.270.5.2176 http://dx.doi.org/10.1074/jbc.270.5.2176 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AC020907 http://www.ebi.ac.uk/ena/data/view/AC020907 EMBL BC005238 http://www.ebi.ac.uk/ena/data/view/BC005238 EMBL BC090044 http://www.ebi.ac.uk/ena/data/view/BC090044 EMBL BT006712 http://www.ebi.ac.uk/ena/data/view/BT006712 EMBL BU157560 http://www.ebi.ac.uk/ena/data/view/BU157560 EMBL CR456945 http://www.ebi.ac.uk/ena/data/view/CR456945 EMBL CR542197 http://www.ebi.ac.uk/ena/data/view/CR542197 EMBL U28249 http://www.ebi.ac.uk/ena/data/view/U28249 EMBL X93036 http://www.ebi.ac.uk/ena/data/view/X93036 Ensembl ENST00000344013 http://www.ensembl.org/id/ENST00000344013 Ensembl ENST00000346446 http://www.ensembl.org/id/ENST00000346446 Ensembl ENST00000435734 http://www.ensembl.org/id/ENST00000435734 Ensembl ENST00000603181 http://www.ensembl.org/id/ENST00000603181 Ensembl ENST00000603449 http://www.ensembl.org/id/ENST00000603449 Ensembl ENST00000604255 http://www.ensembl.org/id/ENST00000604255 Ensembl ENST00000604404 http://www.ensembl.org/id/ENST00000604404 Ensembl ENST00000604621 http://www.ensembl.org/id/ENST00000604621 Ensembl ENST00000605552 http://www.ensembl.org/id/ENST00000605552 Ensembl ENST00000605677 http://www.ensembl.org/id/ENST00000605677 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005789 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005789 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0034707 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034707 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0005254 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005254 GO_function GO:0017080 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0017080 GO_process GO:0006821 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006821 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0050790 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050790 GO_process GO:1903779 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903779 GO_process GO:2000649 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000649 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards FXYD3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=FXYD3 GeneID 5349 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=5349 GeneTree ENSGT00530000063998 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000063998 HGNC HGNC:4027 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:4027 HOGENOM HOG000234469 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000234469&db=HOGENOM6 HOVERGEN HBG008212 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG008212&db=HOVERGEN HPA HPA010856 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA010856 InParanoid Q14802 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q14802 IntAct Q14802 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q14802* InterPro IPR000272 http://www.ebi.ac.uk/interpro/entry/IPR000272 Jabion 5349 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=5349 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Gene hsa:5349 http://www.genome.jp/dbget-bin/www_bget?hsa:5349 KEGG_Orthology KO:K13361 http://www.genome.jp/dbget-bin/www_bget?KO:K13361 MIM 604996 http://www.ncbi.nlm.nih.gov/omim/604996 MINT MINT-5004597 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-5004597 OMA KPSHRPG http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=KPSHRPG OrthoDB EOG091G14HJ http://cegg.unige.ch/orthodb/results?searchtext=EOG091G14HJ PROSITE PS01310 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS01310 PSORT swissprot:FXYD3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:FXYD3_HUMAN PSORT-B swissprot:FXYD3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:FXYD3_HUMAN PSORT2 swissprot:FXYD3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:FXYD3_HUMAN Pfam PF02038 http://pfam.xfam.org/family/PF02038 PharmGKB PA28443 http://www.pharmgkb.org/do/serve?objId=PA28443&objCls=Gene Phobius swissprot:FXYD3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:FXYD3_HUMAN PhylomeDB Q14802 http://phylomedb.org/?seqid=Q14802 ProteinModelPortal Q14802 http://www.proteinmodelportal.org/query/uniprot/Q14802 PubMed 15057824 http://www.ncbi.nlm.nih.gov/pubmed/15057824 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 7836447 http://www.ncbi.nlm.nih.gov/pubmed/7836447 Reactome R-HSA-5578775 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5578775 Reactome R-HSA-936837 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-936837 RefSeq NP_001129479 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001129479 RefSeq NP_001129480 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001129480 RefSeq NP_001129481 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001129481 RefSeq NP_001129482 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001129482 RefSeq NP_001129483 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001129483 RefSeq NP_001129484 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001129484 RefSeq NP_005962 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_005962 RefSeq NP_068710 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_068710 RefSeq XP_005259053 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005259053 RefSeq XP_016882366 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016882366 RefSeq XP_016882367 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016882367 SMR Q14802 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q14802 STRING 9606.ENSP00000389770 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000389770&targetmode=cogs UCSC uc002nxv http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002nxv&org=rat UniGene Hs.301350 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.301350 UniProtKB FXYD3_HUMAN http://www.uniprot.org/uniprot/FXYD3_HUMAN UniProtKB-AC Q14802 http://www.uniprot.org/uniprot/Q14802 charge swissprot:FXYD3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:FXYD3_HUMAN eggNOG ENOG410J4PQ http://eggnogapi.embl.de/nog_data/html/tree/ENOG410J4PQ eggNOG ENOG4111AWX http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111AWX epestfind swissprot:FXYD3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:FXYD3_HUMAN garnier swissprot:FXYD3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:FXYD3_HUMAN helixturnhelix swissprot:FXYD3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:FXYD3_HUMAN hmoment swissprot:FXYD3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:FXYD3_HUMAN iep swissprot:FXYD3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:FXYD3_HUMAN inforesidue swissprot:FXYD3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:FXYD3_HUMAN neXtProt NX_Q14802 http://www.nextprot.org/db/entry/NX_Q14802 octanol swissprot:FXYD3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:FXYD3_HUMAN pepcoil swissprot:FXYD3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:FXYD3_HUMAN pepdigest swissprot:FXYD3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:FXYD3_HUMAN pepinfo swissprot:FXYD3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:FXYD3_HUMAN pepnet swissprot:FXYD3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:FXYD3_HUMAN pepstats swissprot:FXYD3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:FXYD3_HUMAN pepwheel swissprot:FXYD3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:FXYD3_HUMAN pepwindow swissprot:FXYD3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:FXYD3_HUMAN sigcleave swissprot:FXYD3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:FXYD3_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS AT12A_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P54707-1; Sequence=Displayed; Name=2; IsoId=P54707-2; Sequence=VSP_034640; Note=No experimental confirmation available.; # AltName AT12A_HUMAN Non-gastric H(+)/K(+) ATPase subunit alpha # AltName AT12A_HUMAN Proton pump # BRENDA 3.6.3.10 2681 # BioGrid 106969 57 # CATALYTIC ACTIVITY AT12A_HUMAN ATP + H(2)O + H(+)(In) + K(+)(Out) = ADP + phosphate + H(+)(Out) + K(+)(In). # CCDS CCDS31948 -. [P54707-1] # CCDS CCDS53858 -. [P54707-2] # ChiTaRS ATP12A human # Ensembl ENST00000218548 ENSP00000218548; ENSG00000075673. [P54707-2] # Ensembl ENST00000381946 ENSP00000371372; ENSG00000075673. [P54707-1] # FUNCTION AT12A_HUMAN Catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma membrane. Responsible for potassium absorption in various tissues. # GO_component AT12A_HUMAN GO 0005889 hydrogen potassium-exchanging ATPase complex; TAS ProtInc. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0016323 basolateral plasma membrane; IEA:Ensembl. # GO_component GO:0043231 intracellular membrane-bounded organelle; IBA:GO_Central. # GO_function AT12A_HUMAN GO 0005391 sodium potassium-exchanging ATPase activity; IBA GO_Central. # GO_function AT12A_HUMAN GO 0008900 hydrogen potassium-exchanging ATPase activity; IBA GO_Central. # GO_function GO:0005524 ATP binding; IEA:UniProtKB-KW. # GO_function GO:0046872 metal ion binding; IEA:UniProtKB-KW. # GO_process GO:0006883 cellular sodium ion homeostasis; IBA:GO_Central. # GO_process GO:0006885 regulation of pH; IEA:Ensembl. # GO_process GO:0010107 potassium ion import; IBA:GO_Central. # GO_process GO:0015991 ATP hydrolysis coupled proton transport; IBA:GO_Central. # GO_process GO:0030007 cellular potassium ion homeostasis; IBA:GO_Central. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0036376 sodium ion export from cell; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.20.1110.10 -; 2. # Gene3D 2.70.150.10 -; 2. # Gene3D 3.40.1110.10 -; 1. # Genevisible P54707 HS # HGNC HGNC:13816 ATP12A # IntAct P54707 4 # InterPro IPR001757 P_typ_ATPase # InterPro IPR004014 ATPase_P-typ_cation-transptr_N # InterPro IPR005775 P-type_ATPase_IIC # InterPro IPR006068 ATPase_P-typ_cation-transptr_C # InterPro IPR008250 ATPase_P-typ_transduc_dom_A # InterPro IPR018303 ATPase_P-typ_P_site # InterPro IPR023214 HAD-like_dom # InterPro IPR023298 ATPase_P-typ_TM_dom # InterPro IPR023299 ATPase_P-typ_cyto_domN # InterPro IPR030318 Atp12a # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko01000 Enzymes # KEGG_Pathway ko00190 Oxidative phosphorylation # MIM 182360 gene # Organism AT12A_HUMAN Homo sapiens (Human) # PANTHER PTHR24093:SF282 PTHR24093:SF282; 2 # PIR A26641 A26641 # PIR D27795 D27795 # PIR E27397 E27397 # PIR I38401 I38401 # PIR S13028 S13028 # PIR S31504 S31504 # PROSITE PS00154 ATPASE_E1_E2 # Pfam PF00122 E1-E2_ATPase # Pfam PF00689 Cation_ATPase_C # Pfam PF00690 Cation_ATPase_N # Proteomes UP000005640 Chromosome 13 # Reactome R-HSA-936837 Ion transport by P-type ATPases # RecName AT12A_HUMAN Potassium-transporting ATPase alpha chain 2 # RefSeq NP_001172014 NM_001185085.1. [P54707-2] # RefSeq NP_001667 NM_001676.5. [P54707-1] # SIMILARITY Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIC subfamily. {ECO 0000305}. # SMART SM00831 Cation_ATPase_N # SUBCELLULAR LOCATION AT12A_HUMAN Membrane; Multi-pass membrane protein. # SUBUNIT Composed of two subunits alpha (catalytic) and beta. # SUPFAM SSF56784 SSF56784 # SUPFAM SSF81660 SSF81660 # TCDB 3.A.3.1.13 the p-type atpase (p-atpase) superfamily # TIGRFAMs TIGR01106 ATPase-IIC_X-K # TIGRFAMs TIGR01494 ATPase_P-type; 2 # TISSUE SPECIFICITY AT12A_HUMAN Found in skin and kidney. Detected in prostate basal cells (at protein level). Expression is increased in benign prostate hyperplasia and tumor tissues (at protein level). {ECO 0000269|PubMed 22179016, ECO 0000269|PubMed 9872395}. # UCSC uc001upp human. [P54707-1] # eggNOG COG0474 LUCA # eggNOG KOG0203 Eukaryota BLAST swissprot:AT12A_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:AT12A_HUMAN BioCyc ZFISH:HS01186-MONOMER http://biocyc.org/getid?id=ZFISH:HS01186-MONOMER COXPRESdb 479 http://coxpresdb.jp/data/gene/479.shtml CleanEx HS_ATP12A http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ATP12A DOI 10.1006/geno.1996.0125 http://dx.doi.org/10.1006/geno.1996.0125 DOI 10.1016/0014-5793(87)80677-4 http://dx.doi.org/10.1016/0014-5793(87)80677-4 DOI 10.1016/0014-5793(91)80091-G http://dx.doi.org/10.1016/0014-5793(91)80091-G DOI 10.1016/0014-5793(94)00655-5 http://dx.doi.org/10.1016/0014-5793(94)00655-5 DOI 10.1016/S0014-5793(98)01483-5 http://dx.doi.org/10.1016/S0014-5793(98)01483-5 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1038/nature02379 http://dx.doi.org/10.1038/nature02379 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.84.12.4039 http://dx.doi.org/10.1073/pnas.84.12.4039 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1159/000335860 http://dx.doi.org/10.1159/000335860 EC_number EC:3.6.3.10 http://www.genome.jp/dbget-bin/www_bget?EC:3.6.3.10 EMBL AK292968 http://www.ebi.ac.uk/ena/data/view/AK292968 EMBL AL157364 http://www.ebi.ac.uk/ena/data/view/AL157364 EMBL BC031609 http://www.ebi.ac.uk/ena/data/view/BC031609 EMBL CH471075 http://www.ebi.ac.uk/ena/data/view/CH471075 EMBL CH471075 http://www.ebi.ac.uk/ena/data/view/CH471075 EMBL L42558 http://www.ebi.ac.uk/ena/data/view/L42558 EMBL L42559 http://www.ebi.ac.uk/ena/data/view/L42559 EMBL L42560 http://www.ebi.ac.uk/ena/data/view/L42560 EMBL L42561 http://www.ebi.ac.uk/ena/data/view/L42561 EMBL L42562 http://www.ebi.ac.uk/ena/data/view/L42562 EMBL L42563 http://www.ebi.ac.uk/ena/data/view/L42563 EMBL L42565 http://www.ebi.ac.uk/ena/data/view/L42565 EMBL L42566 http://www.ebi.ac.uk/ena/data/view/L42566 EMBL L42567 http://www.ebi.ac.uk/ena/data/view/L42567 EMBL L42568 http://www.ebi.ac.uk/ena/data/view/L42568 EMBL L42569 http://www.ebi.ac.uk/ena/data/view/L42569 EMBL M16797 http://www.ebi.ac.uk/ena/data/view/M16797 EMBL M27574 http://www.ebi.ac.uk/ena/data/view/M27574 EMBL U02076 http://www.ebi.ac.uk/ena/data/view/U02076 EMBL X69823 http://www.ebi.ac.uk/ena/data/view/X69823 EMBL X69824 http://www.ebi.ac.uk/ena/data/view/X69824 ENZYME 3.6.3.10 http://enzyme.expasy.org/EC/3.6.3.10 Ensembl ENST00000218548 http://www.ensembl.org/id/ENST00000218548 Ensembl ENST00000381946 http://www.ensembl.org/id/ENST00000381946 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005889 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005889 GO_component GO:0016323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016323 GO_component GO:0043231 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043231 GO_function GO:0005391 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005391 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0008900 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008900 GO_function GO:0046872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046872 GO_process GO:0006883 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006883 GO_process GO:0006885 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006885 GO_process GO:0010107 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010107 GO_process GO:0015991 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015991 GO_process GO:0030007 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030007 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0036376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0036376 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.20.1110.10 http://www.cathdb.info/version/latest/superfamily/1.20.1110.10 Gene3D 2.70.150.10 http://www.cathdb.info/version/latest/superfamily/2.70.150.10 Gene3D 3.40.1110.10 http://www.cathdb.info/version/latest/superfamily/3.40.1110.10 GeneCards ATP12A http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ATP12A GeneID 479 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=479 GeneTree ENSGT00850000132256 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00850000132256 HGNC HGNC:13816 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:13816 HOGENOM HOG000265622 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000265622&db=HOGENOM6 HOVERGEN HBG004298 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG004298&db=HOVERGEN HPA HPA039526 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA039526 InParanoid P54707 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P54707 IntAct P54707 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P54707* IntEnz 3.6.3.10 http://www.ebi.ac.uk/intenz/query?cmd=Search&q=3.6.3.10 InterPro IPR001757 http://www.ebi.ac.uk/interpro/entry/IPR001757 InterPro IPR004014 http://www.ebi.ac.uk/interpro/entry/IPR004014 InterPro IPR005775 http://www.ebi.ac.uk/interpro/entry/IPR005775 InterPro IPR006068 http://www.ebi.ac.uk/interpro/entry/IPR006068 InterPro IPR008250 http://www.ebi.ac.uk/interpro/entry/IPR008250 InterPro IPR018303 http://www.ebi.ac.uk/interpro/entry/IPR018303 InterPro IPR023214 http://www.ebi.ac.uk/interpro/entry/IPR023214 InterPro IPR023298 http://www.ebi.ac.uk/interpro/entry/IPR023298 InterPro IPR023299 http://www.ebi.ac.uk/interpro/entry/IPR023299 InterPro IPR030318 http://www.ebi.ac.uk/interpro/entry/IPR030318 Jabion 479 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=479 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Gene hsa:479 http://www.genome.jp/dbget-bin/www_bget?hsa:479 KEGG_Orthology KO:K01544 http://www.genome.jp/dbget-bin/www_bget?KO:K01544 KEGG_Pathway ko00190 http://www.genome.jp/kegg-bin/show_pathway?ko00190 MIM 182360 http://www.ncbi.nlm.nih.gov/omim/182360 MINT MINT-4656898 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-4656898 OMA NQVFDQS http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=NQVFDQS OrthoDB EOG091G01BB http://cegg.unige.ch/orthodb/results?searchtext=EOG091G01BB PANTHER PTHR24093:SF282 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24093:SF282 PROSITE PS00154 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00154 PSORT swissprot:AT12A_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:AT12A_HUMAN PSORT-B swissprot:AT12A_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:AT12A_HUMAN PSORT2 swissprot:AT12A_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:AT12A_HUMAN Pfam PF00122 http://pfam.xfam.org/family/PF00122 Pfam PF00689 http://pfam.xfam.org/family/PF00689 Pfam PF00690 http://pfam.xfam.org/family/PF00690 PharmGKB PA25104 http://www.pharmgkb.org/do/serve?objId=PA25104&objCls=Gene Phobius swissprot:AT12A_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:AT12A_HUMAN PhylomeDB P54707 http://phylomedb.org/?seqid=P54707 ProteinModelPortal P54707 http://www.proteinmodelportal.org/query/uniprot/P54707 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15057823 http://www.ncbi.nlm.nih.gov/pubmed/15057823 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 1847115 http://www.ncbi.nlm.nih.gov/pubmed/1847115 PubMed 22179016 http://www.ncbi.nlm.nih.gov/pubmed/22179016 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 3035563 http://www.ncbi.nlm.nih.gov/pubmed/3035563 PubMed 3036582 http://www.ncbi.nlm.nih.gov/pubmed/3036582 PubMed 8045293 http://www.ncbi.nlm.nih.gov/pubmed/8045293 PubMed 8838794 http://www.ncbi.nlm.nih.gov/pubmed/8838794 PubMed 9872395 http://www.ncbi.nlm.nih.gov/pubmed/9872395 Reactome R-HSA-936837 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-936837 RefSeq NP_001172014 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001172014 RefSeq NP_001667 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001667 SMART SM00831 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00831 SMR P54707 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P54707 STRING 9606.ENSP00000218548 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000218548&targetmode=cogs SUPFAM SSF56784 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF56784 SUPFAM SSF81660 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81660 TCDB 3.A.3.1.13 http://www.tcdb.org/search/result.php?tc=3.A.3.1.13 TIGRFAMs TIGR01106 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01106 TIGRFAMs TIGR01494 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01494 UCSC uc001upp http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001upp&org=rat UniGene Hs.147111 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.147111 UniProtKB AT12A_HUMAN http://www.uniprot.org/uniprot/AT12A_HUMAN UniProtKB-AC P54707 http://www.uniprot.org/uniprot/P54707 charge swissprot:AT12A_HUMAN http://rest.g-language.org/emboss/charge/swissprot:AT12A_HUMAN eggNOG COG0474 http://eggnogapi.embl.de/nog_data/html/tree/COG0474 eggNOG KOG0203 http://eggnogapi.embl.de/nog_data/html/tree/KOG0203 epestfind swissprot:AT12A_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:AT12A_HUMAN garnier swissprot:AT12A_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:AT12A_HUMAN helixturnhelix swissprot:AT12A_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:AT12A_HUMAN hmoment swissprot:AT12A_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:AT12A_HUMAN iep swissprot:AT12A_HUMAN http://rest.g-language.org/emboss/iep/swissprot:AT12A_HUMAN inforesidue swissprot:AT12A_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:AT12A_HUMAN neXtProt NX_P54707 http://www.nextprot.org/db/entry/NX_P54707 octanol swissprot:AT12A_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:AT12A_HUMAN pepcoil swissprot:AT12A_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:AT12A_HUMAN pepdigest swissprot:AT12A_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:AT12A_HUMAN pepinfo swissprot:AT12A_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:AT12A_HUMAN pepnet swissprot:AT12A_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:AT12A_HUMAN pepstats swissprot:AT12A_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:AT12A_HUMAN pepwheel swissprot:AT12A_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:AT12A_HUMAN pepwindow swissprot:AT12A_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:AT12A_HUMAN sigcleave swissprot:AT12A_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:AT12A_HUMAN ## Database ID URL or Descriptions # AltName MCAT_HUMAN Carnitine/acylcarnitine translocase # AltName MCAT_HUMAN Solute carrier family 25 member 20 # BioGrid 107241 20 # DISEASE MCAT_HUMAN Carnitine-acylcarnitine translocase deficiency (CACTD) [MIM 212138] A rare long-chain fatty acid oxidation disorder. Metabolic consequences include hypoketotic hypoglycemia under fasting conditions, hyperammonemia, elevated creatine kinase and transaminases, dicarboxylic aciduria, very low free carnitine and abnormal acylcarnitine profile with marked elevation of the long- chain acylcarnitines. Clinical features include neurologic abnormalities, cardiomyopathy, arrhythmias, skeletal muscle damage, liver dysfunction and episodes of life-threatening coma, which eventually lead to death. Most patients become symptomatic in the neonatal period with a rapidly progressive deterioration and a high mortality rate. {ECO 0000269|PubMed 12859414, ECO 0000269|PubMed 15057979, ECO 0000269|PubMed 15365988}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DrugBank DB00583 L-Carnitine # Ensembl ENST00000319017 ENSP00000326305; ENSG00000178537 # ExpressionAtlas O43772 baseline and differential # FUNCTION MCAT_HUMAN Mediates the transport of acylcarnitines of different length across the mitochondrial inner membrane from the cytosol to the mitochondrial matrix for their oxidation by the mitochondrial fatty acid-oxidation pathway. # GO_component GO:0005737 cytoplasm; IDA:HPA. # GO_component GO:0005739 mitochondrion; IDA:UniProtKB. # GO_component GO:0005743 mitochondrial inner membrane; TAS:Reactome. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0015227 acyl carnitine transmembrane transporter activity; EXP:Reactome. # GO_process GO:0006853 carnitine shuttle; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005739 mitochondrion # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.50.40.10 -; 1. # Genevisible O43772 HS # HGNC HGNC:1421 SLC25A20 # IntAct O43772 6 # InterPro IPR018108 Mitochondrial_sb/sol_carrier # InterPro IPR023395 Mt_carrier_dom # KEGG_Brite ko02001 Solute carrier family # KEGG_Disease H00525 [Inherited metabolic disease] Systemic primary carnitine deficiency (CDSP) # KEGG_Disease H01400:[Inherited metabolic disease] Glutamine synthetase deficiency [DS H00923] # MIM 212138 phenotype # MIM 613698 gene # Organism MCAT_HUMAN Homo sapiens (Human) # Orphanet 159 Carnitine-acylcarnitine translocase deficiency # PROSITE PS50920 SOLCAR; 3 # Pfam PF00153 Mito_carr; 3 # Proteomes UP000005640 Chromosome 3 # Reactome R-HSA-200425 Import of palmitoyl-CoA into the mitochondrial matrix # RecName MCAT_HUMAN Mitochondrial carnitine/acylcarnitine carrier protein # RefSeq NP_000378 NM_000387.5 # SIMILARITY Belongs to the mitochondrial carrier (TC 2.A.29) family. {ECO 0000305}. # SIMILARITY Contains 3 Solcar repeats. {ECO:0000255|PROSITE- ProRule PRU00282}. # SUBCELLULAR LOCATION MCAT_HUMAN Mitochondrion inner membrane; Multi-pass membrane protein. # SUPFAM SSF103506 SSF103506 # TCDB 2.A.29.8 the mitochondrial carrier (mc) family # UCSC uc003cva human # eggNOG ENOG410XS86 LUCA # eggNOG KOG0758 Eukaryota BLAST swissprot:MCAT_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:MCAT_HUMAN BioCyc MetaCyc:ENSG00000178537-MONOMER http://biocyc.org/getid?id=MetaCyc:ENSG00000178537-MONOMER BioCyc ZFISH:ENSG00000178537-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000178537-MONOMER COXPRESdb 788 http://coxpresdb.jp/data/gene/788.shtml CleanEx HS_SLC25A20 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC25A20 DOI 10.1002/ajmg.a.20573 http://dx.doi.org/10.1002/ajmg.a.20573 DOI 10.1002/humu.20085 http://dx.doi.org/10.1002/humu.20085 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1006/bbrc.1998.9738 http://dx.doi.org/10.1006/bbrc.1998.9738 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1034/j.1399-0004.2003.00117.x http://dx.doi.org/10.1034/j.1399-0004.2003.00117.x DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1086/301628 http://dx.doi.org/10.1086/301628 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DrugBank DB00583 http://www.drugbank.ca/drugs/DB00583 EMBL AK312962 http://www.ebi.ac.uk/ena/data/view/AK312962 EMBL BC001689 http://www.ebi.ac.uk/ena/data/view/BC001689 EMBL Y10319 http://www.ebi.ac.uk/ena/data/view/Y10319 EMBL Y17775 http://www.ebi.ac.uk/ena/data/view/Y17775 EMBL Y17776 http://www.ebi.ac.uk/ena/data/view/Y17776 EMBL Y17777 http://www.ebi.ac.uk/ena/data/view/Y17777 EMBL Y17778 http://www.ebi.ac.uk/ena/data/view/Y17778 EMBL Y17779 http://www.ebi.ac.uk/ena/data/view/Y17779 Ensembl ENST00000319017 http://www.ensembl.org/id/ENST00000319017 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0015227 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015227 GO_process GO:0006853 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006853 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.50.40.10 http://www.cathdb.info/version/latest/superfamily/1.50.40.10 GeneCards SLC25A20 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC25A20 GeneID 788 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=788 GeneTree ENSGT00700000104295 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00700000104295 HGNC HGNC:1421 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:1421 HOGENOM HOG000168307 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000168307&db=HOGENOM6 HOVERGEN HBG003500 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG003500&db=HOVERGEN HPA HPA016862 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA016862 HPA HPA029863 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA029863 InParanoid O43772 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O43772 IntAct O43772 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O43772* InterPro IPR018108 http://www.ebi.ac.uk/interpro/entry/IPR018108 InterPro IPR023395 http://www.ebi.ac.uk/interpro/entry/IPR023395 Jabion 788 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=788 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Disease H00525 http://www.genome.jp/dbget-bin/www_bget?H00525 KEGG_Disease H01400 http://www.genome.jp/dbget-bin/www_bget?H01400 KEGG_Gene hsa:788 http://www.genome.jp/dbget-bin/www_bget?hsa:788 KEGG_Orthology KO:K15109 http://www.genome.jp/dbget-bin/www_bget?KO:K15109 MIM 212138 http://www.ncbi.nlm.nih.gov/omim/212138 MIM 613698 http://www.ncbi.nlm.nih.gov/omim/613698 MINT MINT-1370660 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1370660 OMA AGKSHNE http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=AGKSHNE Orphanet 159 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=159 OrthoDB EOG091G0HVE http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0HVE PROSITE PS50920 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50920 PSORT swissprot:MCAT_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:MCAT_HUMAN PSORT-B swissprot:MCAT_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:MCAT_HUMAN PSORT2 swissprot:MCAT_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:MCAT_HUMAN Pfam PF00153 http://pfam.xfam.org/family/PF00153 PharmGKB PA35031 http://www.pharmgkb.org/do/serve?objId=PA35031&objCls=Gene Phobius swissprot:MCAT_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:MCAT_HUMAN PhylomeDB O43772 http://phylomedb.org/?seqid=O43772 ProteinModelPortal O43772 http://www.proteinmodelportal.org/query/uniprot/O43772 PubMed 12859414 http://www.ncbi.nlm.nih.gov/pubmed/12859414 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15057979 http://www.ncbi.nlm.nih.gov/pubmed/15057979 PubMed 15365988 http://www.ncbi.nlm.nih.gov/pubmed/15365988 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 9399886 http://www.ncbi.nlm.nih.gov/pubmed/9399886 PubMed 9837782 http://www.ncbi.nlm.nih.gov/pubmed/9837782 Reactome R-HSA-200425 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-200425 RefSeq NP_000378 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000378 STRING 9606.ENSP00000326305 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000326305&targetmode=cogs SUPFAM SSF103506 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103506 TCDB 2.A.29.8 http://www.tcdb.org/search/result.php?tc=2.A.29.8 UCSC uc003cva http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003cva&org=rat UniGene Hs.13845 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.13845 UniProtKB MCAT_HUMAN http://www.uniprot.org/uniprot/MCAT_HUMAN UniProtKB-AC O43772 http://www.uniprot.org/uniprot/O43772 charge swissprot:MCAT_HUMAN http://rest.g-language.org/emboss/charge/swissprot:MCAT_HUMAN eggNOG ENOG410XS86 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XS86 eggNOG KOG0758 http://eggnogapi.embl.de/nog_data/html/tree/KOG0758 epestfind swissprot:MCAT_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:MCAT_HUMAN garnier swissprot:MCAT_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:MCAT_HUMAN helixturnhelix swissprot:MCAT_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:MCAT_HUMAN hmoment swissprot:MCAT_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:MCAT_HUMAN iep swissprot:MCAT_HUMAN http://rest.g-language.org/emboss/iep/swissprot:MCAT_HUMAN inforesidue swissprot:MCAT_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:MCAT_HUMAN neXtProt NX_O43772 http://www.nextprot.org/db/entry/NX_O43772 octanol swissprot:MCAT_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:MCAT_HUMAN pepcoil swissprot:MCAT_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:MCAT_HUMAN pepdigest swissprot:MCAT_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:MCAT_HUMAN pepinfo swissprot:MCAT_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:MCAT_HUMAN pepnet swissprot:MCAT_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:MCAT_HUMAN pepstats swissprot:MCAT_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:MCAT_HUMAN pepwheel swissprot:MCAT_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:MCAT_HUMAN pepwindow swissprot:MCAT_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:MCAT_HUMAN sigcleave swissprot:MCAT_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:MCAT_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS VATF_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q16864-1; Sequence=Displayed; Name=2; IsoId=Q16864-2; Sequence=VSP_045952; Note=No experimental confirmation available.; # AltName VATF_HUMAN V-ATPase 14 kDa subunit # AltName VATF_HUMAN Vacuolar proton pump subunit F # BioGrid 114710 58 # CCDS CCDS56511 -. [Q16864-2] # CCDS CCDS5807 -. [Q16864-1] # Ensembl ENST00000249289 ENSP00000249289; ENSG00000128524. [Q16864-1] # Ensembl ENST00000492758 ENSP00000417378; ENSG00000128524. [Q16864-2] # ExpressionAtlas Q16864 baseline and differential # FUNCTION VATF_HUMAN Subunit of the peripheral V1 complex of vacuolar ATPase essential for assembly or catalytic function. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. # GO_component GO:0005829 cytosol; TAS:Reactome. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0016469 proton-transporting two-sector ATPase complex; NAS:UniProtKB. # GO_component GO:0016471 vacuolar proton-transporting V-type ATPase complex; IDA:UniProtKB. # GO_component GO:0033180 proton-transporting V-type ATPase, V1 domain; IEA:InterPro. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0015078 hydrogen ion transmembrane transporter activity; NAS:UniProtKB. # GO_function GO:0042624 ATPase activity, uncoupled; NAS:UniProtKB. # GO_function GO:0042625 ATPase coupled ion transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0046961 proton-transporting ATPase activity, rotational mechanism; IEA:InterPro. # GO_process GO:0008286 insulin receptor signaling pathway; TAS:Reactome. # GO_process GO:0015991 ATP hydrolysis coupled proton transport; IEA:InterPro. # GO_process GO:0015992 proton transport; NAS:UniProtKB. # GO_process GO:0033572 transferrin transport; TAS:Reactome. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0090383 phagosome acidification; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005829 cytosol # GOslim_component GO:0043226 organelle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 3.40.50.10580 -; 1. # Genevisible Q16864 HS # HGNC HGNC:16832 ATP6V1F # IntAct Q16864 9 # InterPro IPR005772 ATPase_V1-cplx_fsu_euk # InterPro IPR008218 ATPase_V1-cplx_f_g_su # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Brite ko01000 Enzymes # KEGG_Pathway ko00190 Oxidative phosphorylation # KEGG_Pathway ko04145 Phagosome # KEGG_Pathway ko04721 Synaptic vesicle cycle # KEGG_Pathway ko04966 Collecting duct acid secretion # KEGG_Pathway ko05110 Vibrio cholerae infection # KEGG_Pathway ko05120 Epithelial cell signaling in Helicobacter pylori infection # KEGG_Pathway ko05323 Rheumatoid arthritis # MIM 607160 gene # Organism VATF_HUMAN Homo sapiens (Human) # PANTHER PTHR13861 PTHR13861 # PIR JC4193 JC4193 # PIRSF PIRSF015945 ATPase_V1_F_euk # Pfam PF01990 ATP-synt_F # Proteomes UP000005640 Chromosome 7 # Reactome R-HSA-1222556 ROS, RNS production in response to bacteria # Reactome R-HSA-77387 Insulin receptor recycling # Reactome R-HSA-917977 Transferrin endocytosis and recycling # Reactome R-HSA-983712 Ion channel transport # RecName VATF_HUMAN V-type proton ATPase subunit F # RefSeq NP_001185838 NM_001198909.1. [Q16864-2] # RefSeq NP_004222 NM_004231.3. [Q16864-1] # SIMILARITY Belongs to the V-ATPase F subunit family. {ECO 0000305}. # SUBUNIT V-ATPase is a heteromultimeric enzyme composed of a peripheral catalytic V1 complex (components A to H) attached to an integral membrane V0 proton pore complex (components a, c, c', c'' and d). # SUPFAM SSF159468 SSF159468 # TCDB 3.A.2.2 the h(+)- or na(+)-translocating f-type, v-type and a-type atpase (f-atpase) superfamily # TIGRFAMs TIGR01101 V_ATP_synt_F # TopDownProteomics Q16864-1 -. [Q16864-1] # TopDownProteomics Q16864-2 -. [Q16864-2] # UCSC uc003voc human. [Q16864-1] BLAST swissprot:VATF_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:VATF_HUMAN BioCyc MetaCyc:HS05192-MONOMER http://biocyc.org/getid?id=MetaCyc:HS05192-MONOMER BioCyc ZFISH:HS05192-MONOMER http://biocyc.org/getid?id=ZFISH:HS05192-MONOMER COG COG1436 http://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=COG1436 COXPRESdb 9296 http://coxpresdb.jp/data/gene/9296.shtml CleanEx HS_ATP6V1F http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ATP6V1F DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1038/nature01782 http://dx.doi.org/10.1038/nature01782 DOI 10.1093/dnares/2.3.107 http://dx.doi.org/10.1093/dnares/2.3.107 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AC025594 http://www.ebi.ac.uk/ena/data/view/AC025594 EMBL BC104230 http://www.ebi.ac.uk/ena/data/view/BC104230 EMBL BC104231 http://www.ebi.ac.uk/ena/data/view/BC104231 EMBL BC107854 http://www.ebi.ac.uk/ena/data/view/BC107854 EMBL BU956696 http://www.ebi.ac.uk/ena/data/view/BU956696 EMBL CR456896 http://www.ebi.ac.uk/ena/data/view/CR456896 EMBL D49400 http://www.ebi.ac.uk/ena/data/view/D49400 Ensembl ENST00000249289 http://www.ensembl.org/id/ENST00000249289 Ensembl ENST00000492758 http://www.ensembl.org/id/ENST00000492758 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016469 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016469 GO_component GO:0016471 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016471 GO_component GO:0033180 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033180 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0015078 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015078 GO_function GO:0042624 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042624 GO_function GO:0042625 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042625 GO_function GO:0046961 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046961 GO_process GO:0008286 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008286 GO_process GO:0015991 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015991 GO_process GO:0015992 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015992 GO_process GO:0033572 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033572 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0090383 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090383 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 3.40.50.10580 http://www.cathdb.info/version/latest/superfamily/3.40.50.10580 GeneCards ATP6V1F http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ATP6V1F GeneID 9296 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=9296 GeneTree ENSGT00390000013208 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000013208 HGNC HGNC:16832 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:16832 HOGENOM HOG000056545 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000056545&db=HOGENOM6 HOVERGEN HBG004488 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG004488&db=HOVERGEN HPA CAB009529 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB009529 HPA HPA048700 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA048700 HPA HPA062011 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA062011 InParanoid Q16864 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q16864 IntAct Q16864 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q16864* InterPro IPR005772 http://www.ebi.ac.uk/interpro/entry/IPR005772 InterPro IPR008218 http://www.ebi.ac.uk/interpro/entry/IPR008218 Jabion 9296 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=9296 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00002 http://www.genome.jp/dbget-bin/www_bget?ko00002 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Gene hsa:9296 http://www.genome.jp/dbget-bin/www_bget?hsa:9296 KEGG_Orthology KO:K02151 http://www.genome.jp/dbget-bin/www_bget?KO:K02151 KEGG_Pathway ko00190 http://www.genome.jp/kegg-bin/show_pathway?ko00190 KEGG_Pathway ko04145 http://www.genome.jp/kegg-bin/show_pathway?ko04145 KEGG_Pathway ko04721 http://www.genome.jp/kegg-bin/show_pathway?ko04721 KEGG_Pathway ko04966 http://www.genome.jp/kegg-bin/show_pathway?ko04966 KEGG_Pathway ko05110 http://www.genome.jp/kegg-bin/show_pathway?ko05110 KEGG_Pathway ko05120 http://www.genome.jp/kegg-bin/show_pathway?ko05120 KEGG_Pathway ko05323 http://www.genome.jp/kegg-bin/show_pathway?ko05323 MIM 607160 http://www.ncbi.nlm.nih.gov/omim/607160 MINT MINT-1426240 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1426240 OMA QNVAEMI http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=QNVAEMI OrthoDB EOG091G0ZUA http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0ZUA PANTHER PTHR13861 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR13861 PSORT swissprot:VATF_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:VATF_HUMAN PSORT-B swissprot:VATF_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:VATF_HUMAN PSORT2 swissprot:VATF_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:VATF_HUMAN Pfam PF01990 http://pfam.xfam.org/family/PF01990 PharmGKB PA38421 http://www.pharmgkb.org/do/serve?objId=PA38421&objCls=Gene Phobius swissprot:VATF_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:VATF_HUMAN PhylomeDB Q16864 http://phylomedb.org/?seqid=Q16864 ProteinModelPortal Q16864 http://www.proteinmodelportal.org/query/uniprot/Q16864 PubMed 12853948 http://www.ncbi.nlm.nih.gov/pubmed/12853948 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 8581736 http://www.ncbi.nlm.nih.gov/pubmed/8581736 Reactome R-HSA-1222556 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1222556 Reactome R-HSA-77387 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-77387 Reactome R-HSA-917977 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-917977 Reactome R-HSA-983712 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-983712 RefSeq NP_001185838 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001185838 RefSeq NP_004222 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004222 SMR Q16864 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q16864 STRING COG1436 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=COG1436&targetmode=cogs SUPFAM SSF159468 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF159468 TCDB 3.A.2.2 http://www.tcdb.org/search/result.php?tc=3.A.2.2 TIGRFAMs TIGR01101 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01101 UCSC uc003voc http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003voc&org=rat UniGene Hs.78089 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.78089 UniProtKB VATF_HUMAN http://www.uniprot.org/uniprot/VATF_HUMAN UniProtKB-AC Q16864 http://www.uniprot.org/uniprot/Q16864 charge swissprot:VATF_HUMAN http://rest.g-language.org/emboss/charge/swissprot:VATF_HUMAN epestfind swissprot:VATF_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:VATF_HUMAN garnier swissprot:VATF_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:VATF_HUMAN helixturnhelix swissprot:VATF_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:VATF_HUMAN hmoment swissprot:VATF_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:VATF_HUMAN iep swissprot:VATF_HUMAN http://rest.g-language.org/emboss/iep/swissprot:VATF_HUMAN inforesidue swissprot:VATF_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:VATF_HUMAN neXtProt NX_Q16864 http://www.nextprot.org/db/entry/NX_Q16864 octanol swissprot:VATF_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:VATF_HUMAN pepcoil swissprot:VATF_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:VATF_HUMAN pepdigest swissprot:VATF_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:VATF_HUMAN pepinfo swissprot:VATF_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:VATF_HUMAN pepnet swissprot:VATF_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:VATF_HUMAN pepstats swissprot:VATF_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:VATF_HUMAN pepwheel swissprot:VATF_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:VATF_HUMAN pepwindow swissprot:VATF_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:VATF_HUMAN sigcleave swissprot:VATF_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:VATF_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS ACHA_HUMAN Event=Alternative splicing; Named isoforms=2; Name=2; IsoId=P02708-1; Sequence=Displayed; Name=1; IsoId=P02708-2; Sequence=VSP_000071; # BioGrid 107556 4 # CCDS CCDS2261 -. [P02708-2] # CCDS CCDS33331 -. [P02708-1] # DISEASE ACHA_HUMAN Multiple pterygium syndrome, lethal type (LMPS) [MIM 253290] Multiple pterygia are found infrequently in children with arthrogryposis and in fetuses with fetal akinesia syndrome. In lethal multiple pterygium syndrome there is intrauterine growth retardation, multiple pterygia, and flexion contractures causing severe arthrogryposis and fetal akinesia. Subcutaneous edema can be severe, causing fetal hydrops with cystic hygroma and lung hypoplasia. Oligohydramnios and facial anomalies are frequent. {ECO 0000269|PubMed 18252226}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE ACHA_HUMAN Myasthenic syndrome, congenital, 1A, slow-channel (CMS1A) [MIM 601462] A common congenital myasthenic syndrome. Congenital myasthenic syndromes are characterized by muscle weakness affecting the axial and limb muscles (with hypotonia in early- onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS1A is a slow-channel myasthenic syndrome. It is caused by kinetic abnormalities of the AChR, resulting in prolonged AChR channel opening episodes, prolonged endplate currents, and depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane. {ECO 0000269|PubMed 16685696, ECO 0000269|PubMed 7619526, ECO 0000269|PubMed 8872460, ECO 0000269|PubMed 9158151, ECO 0000269|PubMed 9221765}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE ACHA_HUMAN Myasthenic syndrome, congenital, 1B, fast-channel (CMS1B) [MIM 608930] A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS1B is a fast-channel myasthenic syndrome. It is caused by kinetic abnormalities of the AChR, resulting in brief opening and activity of the channel, with a rapid decay in endplate current, failure to achieve threshold depolarization of the endplate and consequent failure to fire an action potential. {ECO 0000269|PubMed 10195214, ECO 0000269|PubMed 12588888, ECO 0000269|PubMed 15079006}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE ACHA_HUMAN Note=The alpha subunit is the main focus for antibody binding in myasthenia gravis. Myasthenia gravis is characterized by sporadic muscular fatigability and weakness, occurring chiefly in muscles innervated by cranial nerves, and characteristically improved by cholinesterase-inhibiting drugs. # DrugBank DB00674 Galantamine # Ensembl ENST00000261007 ENSP00000261007; ENSG00000138435. [P02708-1] # Ensembl ENST00000348749 ENSP00000261008; ENSG00000138435. [P02708-2] # ExpressionAtlas P02708 baseline and differential # FUNCTION ACHA_HUMAN After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. # GO_component GO:0005886 plasma membrane; ISS:BHF-UCL. # GO_component GO:0005892 acetylcholine-gated channel complex; ISS:BHF-UCL. # GO_component GO:0009986 cell surface; IDA:BHF-UCL. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0031594 neuromuscular junction; ISS:BHF-UCL. # GO_component GO:0045211 postsynaptic membrane; NAS:BHF-UCL. # GO_function GO:0004889 acetylcholine-activated cation-selective channel activity; IMP:MGI. # GO_function GO:0005216 ion channel activity; TAS:ProtInc. # GO_function GO:0015276 ligand-gated ion channel activity; TAS:Reactome. # GO_function GO:0015464 acetylcholine receptor activity; TAS:ProtInc. # GO_function GO:0042166 acetylcholine binding; IEA:Ensembl. # GO_process GO:0003009 skeletal muscle contraction; IMP:BHF-UCL. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0007165 signal transduction; TAS:ProtInc. # GO_process GO:0007271 synaptic transmission, cholinergic; IBA:GO_Central. # GO_process GO:0007274 neuromuscular synaptic transmission; IMP:MGI. # GO_process GO:0007528 neuromuscular junction development; IMP:MGI. # GO_process GO:0019228 neuronal action potential; IMP:BHF-UCL. # GO_process GO:0035094 response to nicotine; IBA:GO_Central. # GO_process GO:0042391 regulation of membrane potential; IMP:BHF-UCL. # GO_process GO:0046716 muscle cell cellular homeostasis; IMP:BHF-UCL. # GO_process GO:0048630 skeletal muscle tissue growth; IMP:BHF-UCL. # GO_process GO:0050881 musculoskeletal movement; IMP:BHF-UCL. # GO_process GO:0050905 neuromuscular process; IMP:BHF-UCL. # GO_process GO:0070050 neuron cellular homeostasis; IMP:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # GOslim_process GO:0040007 growth # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0050877 neurological system process # Gene3D 1.20.120.370 -; 2. # Gene3D 2.70.170.10 -; 1. # Genevisible P02708 HS # HGNC HGNC:1955 CHRNA1 # IntAct P02708 3 # InterPro IPR002394 Nicotinic_acetylcholine_rcpt # InterPro IPR006029 Neurotrans-gated_channel_TM # InterPro IPR006201 Neur_channel # InterPro IPR006202 Neur_chan_lig-bd # InterPro IPR018000 Neurotransmitter_ion_chnl_CS # InterPro IPR027361 Acetylcholine_rcpt_TM # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00770 [Nervous system disease] Congenital myasthenic syndrome # KEGG_Disease H00986 [Developmental disorder] Multiple pterygium syndrome, Escobar variant (EVMPS) # KEGG_Pathway ko04080 Neuroactive ligand-receptor interaction # MIM 100690 gene # MIM 253290 phenotype # MIM 254200 phenotype # MIM 601462 phenotype # MIM 608930 phenotype # Organism ACHA_HUMAN Homo sapiens (Human) # Orphanet 33108 Lethal multiple pterygium syndrome # Orphanet 98913 Postsynaptic congenital myasthenic syndromes # PANTHER PTHR18945 PTHR18945; 2 # PDB 1Y5P Model; -; B=230-235 # PDB 1Y5T Model; -; B=230-235 # PDB 1Y6C Model; -; B=230-235 # PDB 4ZJS X-ray; 2.23 A; A/B/C/D/E=21-50, A/B/C/D/E=106-126 # PIR A03168 ACHUA1 # PIR S10148 S10148 # PRINTS PR00252 NRIONCHANNEL # PRINTS PR00254 NICOTINICR # PROSITE PS00236 NEUROTR_ION_CHANNEL # Pfam PF02931 Neur_chan_LBD; 2 # Pfam PF02932 Neur_chan_memb; 2 # Proteomes UP000005640 Chromosome 2 # Reactome R-HSA-629594 Highly calcium permeable postsynaptic nicotinic acetylcholine receptors # Reactome R-HSA-629597 Highly calcium permeable nicotinic acetylcholine receptors # RecName ACHA_HUMAN Acetylcholine receptor subunit alpha # RefSeq NP_000070 NM_000079.3. [P02708-2] # RefSeq NP_001034612 NM_001039523.2. [P02708-1] # SIMILARITY Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Alpha- 1/CHRNA1 sub-subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION ACHA_HUMAN Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. # SUBUNIT ACHA_HUMAN Pentamer of two alpha chains, and one each of the beta, delta, and gamma (in immature muscle) or epsilon (in mature muscle) chains. # SUPFAM SSF63712 SSF63712; 2 # SUPFAM SSF90112 SSF90112 # TCDB 1.A.9.1 the neurotransmitter receptor, cys loop, ligand-gated ion channel (lic) family # TISSUE SPECIFICITY ACHA_HUMAN Isoform 1 is only expressed in skeletal muscle. Isoform 2 is constitutively expressed in skeletal muscle, brain, heart, kidney, liver, lung and thymus. # UCSC uc002ujd human. [P02708-1] # eggNOG ENOG410XQGR LUCA # eggNOG KOG3645 Eukaryota BLAST swissprot:ACHA_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ACHA_HUMAN BioCyc ZFISH:ENSG00000138435-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000138435-MONOMER COXPRESdb 1134 http://coxpresdb.jp/data/gene/1134.shtml CleanEx HS_CHRNA1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CHRNA1 DOI 10.1002/ana.20861 http://dx.doi.org/10.1002/ana.20861 DOI 10.1016/0014-5793(88)81430-3 http://dx.doi.org/10.1016/0014-5793(88)81430-3 DOI 10.1016/0896-6273(95)90080-2 http://dx.doi.org/10.1016/0896-6273(95)90080-2 DOI 10.1016/j.ajhg.2007.11.006 http://dx.doi.org/10.1016/j.ajhg.2007.11.006 DOI 10.1038/305818a0 http://dx.doi.org/10.1038/305818a0 DOI 10.1038/6326 http://dx.doi.org/10.1038/6326 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1093/hmg/5.9.1217 http://dx.doi.org/10.1093/hmg/5.9.1217 DOI 10.1093/hmg/6.5.767 http://dx.doi.org/10.1093/hmg/6.5.767 DOI 10.1093/nar/21.2.233 http://dx.doi.org/10.1093/nar/21.2.233 DOI 10.1126/scisignal.2000007 http://dx.doi.org/10.1126/scisignal.2000007 DOI 10.1172/JCI113369 http://dx.doi.org/10.1172/JCI113369 DOI 10.1172/JCI16997 http://dx.doi.org/10.1172/JCI16997 DOI 10.1212/01.WNL.0000118205.99701.41 http://dx.doi.org/10.1212/01.WNL.0000118205.99701.41 DrugBank DB00674 http://www.drugbank.ca/drugs/DB00674 EMBL AK299445 http://www.ebi.ac.uk/ena/data/view/AK299445 EMBL CH471058 http://www.ebi.ac.uk/ena/data/view/CH471058 EMBL CH471058 http://www.ebi.ac.uk/ena/data/view/CH471058 EMBL S77094 http://www.ebi.ac.uk/ena/data/view/S77094 EMBL X02502 http://www.ebi.ac.uk/ena/data/view/X02502 EMBL X02503 http://www.ebi.ac.uk/ena/data/view/X02503 EMBL X02504 http://www.ebi.ac.uk/ena/data/view/X02504 EMBL X02505 http://www.ebi.ac.uk/ena/data/view/X02505 EMBL X02506 http://www.ebi.ac.uk/ena/data/view/X02506 EMBL X02507 http://www.ebi.ac.uk/ena/data/view/X02507 EMBL X02508 http://www.ebi.ac.uk/ena/data/view/X02508 EMBL X17104 http://www.ebi.ac.uk/ena/data/view/X17104 EMBL X70108 http://www.ebi.ac.uk/ena/data/view/X70108 EMBL Y00762 http://www.ebi.ac.uk/ena/data/view/Y00762 Ensembl ENST00000261007 http://www.ensembl.org/id/ENST00000261007 Ensembl ENST00000348749 http://www.ensembl.org/id/ENST00000348749 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005892 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005892 GO_component GO:0009986 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009986 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0031594 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031594 GO_component GO:0045211 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045211 GO_function GO:0004889 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004889 GO_function GO:0005216 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005216 GO_function GO:0015276 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015276 GO_function GO:0015464 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015464 GO_function GO:0042166 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042166 GO_process GO:0003009 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003009 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GO_process GO:0007271 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007271 GO_process GO:0007274 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007274 GO_process GO:0007528 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007528 GO_process GO:0019228 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019228 GO_process GO:0035094 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035094 GO_process GO:0042391 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042391 GO_process GO:0046716 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046716 GO_process GO:0048630 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048630 GO_process GO:0050881 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050881 GO_process GO:0050905 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050905 GO_process GO:0070050 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070050 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0040007 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0040007 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 Gene3D 1.20.120.370 http://www.cathdb.info/version/latest/superfamily/1.20.120.370 Gene3D 2.70.170.10 http://www.cathdb.info/version/latest/superfamily/2.70.170.10 GeneCards CHRNA1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CHRNA1 GeneID 1134 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=1134 GeneTree ENSGT00760000118930 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118930 HGNC HGNC:1955 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:1955 HOGENOM HOG000006756 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000006756&db=HOGENOM6 HOVERGEN HBG003756 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG003756&db=HOVERGEN HPA CAB010902 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB010902 HPA HPA071554 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA071554 InParanoid P02708 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P02708 IntAct P02708 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P02708* InterPro IPR002394 http://www.ebi.ac.uk/interpro/entry/IPR002394 InterPro IPR006029 http://www.ebi.ac.uk/interpro/entry/IPR006029 InterPro IPR006201 http://www.ebi.ac.uk/interpro/entry/IPR006201 InterPro IPR006202 http://www.ebi.ac.uk/interpro/entry/IPR006202 InterPro IPR018000 http://www.ebi.ac.uk/interpro/entry/IPR018000 InterPro IPR027361 http://www.ebi.ac.uk/interpro/entry/IPR027361 Jabion 1134 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=1134 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00770 http://www.genome.jp/dbget-bin/www_bget?H00770 KEGG_Disease H00986 http://www.genome.jp/dbget-bin/www_bget?H00986 KEGG_Gene hsa:1134 http://www.genome.jp/dbget-bin/www_bget?hsa:1134 KEGG_Orthology KO:K04803 http://www.genome.jp/dbget-bin/www_bget?KO:K04803 KEGG_Pathway ko04080 http://www.genome.jp/kegg-bin/show_pathway?ko04080 MIM 100690 http://www.ncbi.nlm.nih.gov/omim/100690 MIM 253290 http://www.ncbi.nlm.nih.gov/omim/253290 MIM 254200 http://www.ncbi.nlm.nih.gov/omim/254200 MIM 601462 http://www.ncbi.nlm.nih.gov/omim/601462 MIM 608930 http://www.ncbi.nlm.nih.gov/omim/608930 OMA AMVMDHL http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=AMVMDHL Orphanet 33108 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=33108 Orphanet 98913 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=98913 OrthoDB EOG091G0R20 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0R20 PANTHER PTHR18945 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR18945 PDB 1Y5P http://www.ebi.ac.uk/pdbe-srv/view/entry/1Y5P PDB 1Y5T http://www.ebi.ac.uk/pdbe-srv/view/entry/1Y5T PDB 1Y6C http://www.ebi.ac.uk/pdbe-srv/view/entry/1Y6C PDB 4ZJS http://www.ebi.ac.uk/pdbe-srv/view/entry/4ZJS PDBsum 1Y5P http://www.ebi.ac.uk/pdbsum/1Y5P PDBsum 1Y5T http://www.ebi.ac.uk/pdbsum/1Y5T PDBsum 1Y6C http://www.ebi.ac.uk/pdbsum/1Y6C PDBsum 4ZJS http://www.ebi.ac.uk/pdbsum/4ZJS PRINTS PR00252 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00252 PRINTS PR00254 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00254 PROSITE PS00236 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00236 PSORT swissprot:ACHA_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ACHA_HUMAN PSORT-B swissprot:ACHA_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ACHA_HUMAN PSORT2 swissprot:ACHA_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ACHA_HUMAN Pfam PF02931 http://pfam.xfam.org/family/PF02931 Pfam PF02932 http://pfam.xfam.org/family/PF02932 PharmGKB PA26487 http://www.pharmgkb.org/do/serve?objId=PA26487&objCls=Gene Phobius swissprot:ACHA_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ACHA_HUMAN PhylomeDB P02708 http://phylomedb.org/?seqid=P02708 ProteinModelPortal P02708 http://www.proteinmodelportal.org/query/uniprot/P02708 PubMed 10195214 http://www.ncbi.nlm.nih.gov/pubmed/10195214 PubMed 12588888 http://www.ncbi.nlm.nih.gov/pubmed/12588888 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15079006 http://www.ncbi.nlm.nih.gov/pubmed/15079006 PubMed 16685696 http://www.ncbi.nlm.nih.gov/pubmed/16685696 PubMed 1694127 http://www.ncbi.nlm.nih.gov/pubmed/1694127 PubMed 18252226 http://www.ncbi.nlm.nih.gov/pubmed/18252226 PubMed 19690332 http://www.ncbi.nlm.nih.gov/pubmed/19690332 PubMed 2449458 http://www.ncbi.nlm.nih.gov/pubmed/2449458 PubMed 3338555 http://www.ncbi.nlm.nih.gov/pubmed/3338555 PubMed 6688857 http://www.ncbi.nlm.nih.gov/pubmed/6688857 PubMed 7619526 http://www.ncbi.nlm.nih.gov/pubmed/7619526 PubMed 7725386 http://www.ncbi.nlm.nih.gov/pubmed/7725386 PubMed 8441631 http://www.ncbi.nlm.nih.gov/pubmed/8441631 PubMed 8872460 http://www.ncbi.nlm.nih.gov/pubmed/8872460 PubMed 9158151 http://www.ncbi.nlm.nih.gov/pubmed/9158151 PubMed 9221765 http://www.ncbi.nlm.nih.gov/pubmed/9221765 Reactome R-HSA-629594 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-629594 Reactome R-HSA-629597 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-629597 RefSeq NP_000070 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000070 RefSeq NP_001034612 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001034612 SMR P02708 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P02708 STRING 9606.ENSP00000261007 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000261007&targetmode=cogs SUPFAM SSF63712 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF63712 SUPFAM SSF90112 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF90112 TCDB 1.A.9.1 http://www.tcdb.org/search/result.php?tc=1.A.9.1 UCSC uc002ujd http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002ujd&org=rat UniGene Hs.434479 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.434479 UniProtKB ACHA_HUMAN http://www.uniprot.org/uniprot/ACHA_HUMAN UniProtKB-AC P02708 http://www.uniprot.org/uniprot/P02708 charge swissprot:ACHA_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ACHA_HUMAN eggNOG ENOG410XQGR http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XQGR eggNOG KOG3645 http://eggnogapi.embl.de/nog_data/html/tree/KOG3645 epestfind swissprot:ACHA_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ACHA_HUMAN garnier swissprot:ACHA_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ACHA_HUMAN helixturnhelix swissprot:ACHA_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ACHA_HUMAN hmoment swissprot:ACHA_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ACHA_HUMAN iep swissprot:ACHA_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ACHA_HUMAN inforesidue swissprot:ACHA_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ACHA_HUMAN neXtProt NX_P02708 http://www.nextprot.org/db/entry/NX_P02708 octanol swissprot:ACHA_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ACHA_HUMAN pepcoil swissprot:ACHA_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ACHA_HUMAN pepdigest swissprot:ACHA_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ACHA_HUMAN pepinfo swissprot:ACHA_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ACHA_HUMAN pepnet swissprot:ACHA_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ACHA_HUMAN pepstats swissprot:ACHA_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ACHA_HUMAN pepwheel swissprot:ACHA_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ACHA_HUMAN pepwindow swissprot:ACHA_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ACHA_HUMAN sigcleave swissprot:ACHA_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ACHA_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS TRPC1_HUMAN Event=Alternative splicing; Named isoforms=2; Name=Long; IsoId=P48995-1; Sequence=Displayed; Name=Short; IsoId=P48995-2; Sequence=VSP_006560; # AltName TRPC1_HUMAN Transient receptor protein 1 # BioGrid 113071 16 # CCDS CCDS3126 -. [P48995-2] # CCDS CCDS58856 -. [P48995-1] # ChiTaRS TRPC1 human # Ensembl ENST00000273482 ENSP00000273482; ENSG00000144935. [P48995-2] # Ensembl ENST00000476941 ENSP00000419313; ENSG00000144935. [P48995-1] # Ensembl ENST00000612385 ENSP00000481537; ENSG00000144935. [P48995-2] # ExpressionAtlas P48995 baseline and differential # FUNCTION TRPC1_HUMAN Thought to form a receptor-activated non-selective calcium permeant cation channel. Probably is operated by a phosphatidylinositol second messenger system activated by receptor tyrosine kinases or G-protein coupled receptors. Seems to be also activated by intracellular calcium store depletion. {ECO 0000269|PubMed 15016832}. # GO_component GO:0005886 plasma membrane; IDA:BHF-UCL. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0043235 receptor complex; IDA:MGI. # GO_function GO:0005261 cation channel activity; EXP:Reactome. # GO_function GO:0005262 calcium channel activity; TAS:Reactome. # GO_function GO:0015279 store-operated calcium channel activity; TAS:ProtInc. # GO_function GO:0044325 ion channel binding; IPI:BHF-UCL. # GO_function GO:0070679 inositol 1,4,5 trisphosphate binding; IDA:BHF-UCL. # GO_process GO:0006816 calcium ion transport; TAS:ProtInc. # GO_process GO:0006828 manganese ion transport; IBA:GO_Central. # GO_process GO:0042438 melanin biosynthetic process; IDA:CACAO. # GO_process GO:0051281 positive regulation of release of sequestered calcium ion into cytosol; IDA:BHF-UCL. # GO_process GO:0051480 regulation of cytosolic calcium ion concentration; IDA:BHF-UCL. # GO_process GO:0051592 response to calcium ion; IDA:BHF-UCL. # GO_process GO:0070588 calcium ion transmembrane transport; TAS:Reactome. # GO_process GO:1903779 regulation of cardiac conduction; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0019748 secondary metabolic process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.25.40.20 -; 1. # Genevisible P48995 HS # HGNC HGNC:12333 TRPC1 # INTERACTION TRPC1_HUMAN Q13563 PKD2; NbExp=4; IntAct=EBI-9830970, EBI-7813714; # IntAct P48995 37 # InterPro IPR002110 Ankyrin_rpt # InterPro IPR002153 TRPC_channel # InterPro IPR004729 TRP_channel # InterPro IPR005457 TRPC1_channel # InterPro IPR005821 Ion_trans_dom # InterPro IPR013555 TRP_dom # InterPro IPR020683 Ankyrin_rpt-contain_dom # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04724 Glutamatergic synapse # KEGG_Pathway ko04726 Serotonergic synapse # KEGG_Pathway ko04972 Pancreatic secretion # MIM 602343 gene # Organism TRPC1_HUMAN Homo sapiens (Human) # PANTHER PTHR10117 PTHR10117 # PIR S68238 S68238 # PRINTS PR01097 TRNSRECEPTRP # PRINTS PR01642 TRPCHANNEL1 # PTM TRPC1_HUMAN Activation of PRKCA induces phosphorylation of TRPC1 and subsequent Ca2+ entry into cells. {ECO 0000269|PubMed 15016832}. # Pfam PF00520 Ion_trans # Pfam PF08344 TRP_2 # Proteomes UP000005640 Chromosome 3 # Reactome R-HSA-3295583 TRP channels # Reactome R-HSA-418890 Role of second messengers in netrin-1 signaling # Reactome R-HSA-5578775 Ion homeostasis # Reactome R-HSA-983695 Antigen activates B Cell Receptor (BCR) leading to generation of second messengers # RecName TRPC1_HUMAN Short transient receptor potential channel 1 # RefSeq NP_001238774 NM_001251845.1. [P48995-1] # RefSeq NP_003295 NM_003304.4. [P48995-2] # SIMILARITY Belongs to the transient receptor (TC 1.A.4) family. STrpC subfamily. TRPC1 sub-subfamily. {ECO 0000305}. # SIMILARITY Contains 4 ANK repeats. {ECO 0000305}. # SMART SM00248 ANK; 3 # SUBCELLULAR LOCATION TRPC1_HUMAN Membrane; Multi-pass membrane protein. # SUBUNIT TRPC1_HUMAN Interacts with TRPC4AP (By similarity). Homotetramer and heterotetramer with TRPC4 and/or TRPC5. Interacts with TRPC3, TRPC4 and TRPC5. Interacts with ITPR3. Interacts with MX1 and RNF24. Interacts with FKBP4. {ECO 0000250, ECO 0000269|PubMed 10766822, ECO 0000269|PubMed 12032305, ECO 0000269|PubMed 15757897, ECO 0000269|PubMed 17850865, ECO 0000269|PubMed 19945390}. # SUPFAM SSF48403 SSF48403 # TCDB 1.A.4.1 the transient receptor potential ca(2+) channel (trp-cc) family # TIGRFAMs TIGR00870 trp # TISSUE SPECIFICITY TRPC1_HUMAN Seems to be ubiquitous. # UCSC uc003evb human. [P48995-1] # eggNOG ENOG410XQ0Y LUCA # eggNOG KOG3609 Eukaryota BLAST swissprot:TRPC1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:TRPC1_HUMAN BioCyc ZFISH:ENSG00000144935-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000144935-MONOMER COXPRESdb 7220 http://coxpresdb.jp/data/gene/7220.shtml CleanEx HS_TRPC1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_TRPC1 DIP DIP-35698N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-35698N DOI 10.1016/0014-5793(95)01038-G http://dx.doi.org/10.1016/0014-5793(95)01038-G DOI 10.1016/S0896-6273(00)80145-2 http://dx.doi.org/10.1016/S0896-6273(00)80145-2 DOI 10.1016/j.ceca.2007.07.009 http://dx.doi.org/10.1016/j.ceca.2007.07.009 DOI 10.1016/j.neuron.2009.09.025 http://dx.doi.org/10.1016/j.neuron.2009.09.025 DOI 10.1073/pnas.102596199 http://dx.doi.org/10.1073/pnas.102596199 DOI 10.1073/pnas.92.21.9652 http://dx.doi.org/10.1073/pnas.92.21.9652 DOI 10.1074/jbc.275.16.11934 http://dx.doi.org/10.1074/jbc.275.16.11934 DOI 10.1074/jbc.M313975200 http://dx.doi.org/10.1074/jbc.M313975200 DOI 10.1074/jbc.M500391200 http://dx.doi.org/10.1074/jbc.M500391200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1161/01.RES.88.1.84 http://dx.doi.org/10.1161/01.RES.88.1.84 EMBL BC112338 http://www.ebi.ac.uk/ena/data/view/BC112338 EMBL BC113953 http://www.ebi.ac.uk/ena/data/view/BC113953 EMBL CH471052 http://www.ebi.ac.uk/ena/data/view/CH471052 EMBL U31110 http://www.ebi.ac.uk/ena/data/view/U31110 EMBL U31110 http://www.ebi.ac.uk/ena/data/view/U31110 EMBL X89066 http://www.ebi.ac.uk/ena/data/view/X89066 EMBL Z73903 http://www.ebi.ac.uk/ena/data/view/Z73903 Ensembl ENST00000273482 http://www.ensembl.org/id/ENST00000273482 Ensembl ENST00000476941 http://www.ensembl.org/id/ENST00000476941 Ensembl ENST00000612385 http://www.ensembl.org/id/ENST00000612385 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0043235 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043235 GO_function GO:0005261 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005261 GO_function GO:0005262 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005262 GO_function GO:0015279 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015279 GO_function GO:0044325 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044325 GO_function GO:0070679 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070679 GO_process GO:0006816 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006816 GO_process GO:0006828 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006828 GO_process GO:0042438 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042438 GO_process GO:0051281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051281 GO_process GO:0051480 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051480 GO_process GO:0051592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051592 GO_process GO:0070588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070588 GO_process GO:1903779 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903779 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0019748 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019748 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.25.40.20 http://www.cathdb.info/version/latest/superfamily/1.25.40.20 GeneCards TRPC1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=TRPC1 GeneID 7220 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=7220 GeneTree ENSGT00760000119180 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119180 HGNC HGNC:12333 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:12333 HOGENOM HOG000020589 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000020589&db=HOGENOM6 HOVERGEN HBG068337 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG068337&db=HOVERGEN HPA CAB009387 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB009387 HPA HPA021130 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA021130 InParanoid P48995 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P48995 IntAct P48995 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P48995* InterPro IPR002110 http://www.ebi.ac.uk/interpro/entry/IPR002110 InterPro IPR002153 http://www.ebi.ac.uk/interpro/entry/IPR002153 InterPro IPR004729 http://www.ebi.ac.uk/interpro/entry/IPR004729 InterPro IPR005457 http://www.ebi.ac.uk/interpro/entry/IPR005457 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR013555 http://www.ebi.ac.uk/interpro/entry/IPR013555 InterPro IPR020683 http://www.ebi.ac.uk/interpro/entry/IPR020683 Jabion 7220 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=7220 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:7220 http://www.genome.jp/dbget-bin/www_bget?hsa:7220 KEGG_Orthology KO:K04964 http://www.genome.jp/dbget-bin/www_bget?KO:K04964 KEGG_Pathway ko04724 http://www.genome.jp/kegg-bin/show_pathway?ko04724 KEGG_Pathway ko04726 http://www.genome.jp/kegg-bin/show_pathway?ko04726 KEGG_Pathway ko04972 http://www.genome.jp/kegg-bin/show_pathway?ko04972 MIM 602343 http://www.ncbi.nlm.nih.gov/omim/602343 OMA FVAQSNC http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=FVAQSNC OrthoDB EOG091G029I http://cegg.unige.ch/orthodb/results?searchtext=EOG091G029I PANTHER PTHR10117 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10117 PRINTS PR01097 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01097 PRINTS PR01642 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01642 PSORT swissprot:TRPC1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:TRPC1_HUMAN PSORT-B swissprot:TRPC1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:TRPC1_HUMAN PSORT2 swissprot:TRPC1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:TRPC1_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF08344 http://pfam.xfam.org/family/PF08344 PharmGKB PA357 http://www.pharmgkb.org/do/serve?objId=PA357&objCls=Gene Phobius swissprot:TRPC1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:TRPC1_HUMAN PhylomeDB P48995 http://phylomedb.org/?seqid=P48995 ProteinModelPortal P48995 http://www.proteinmodelportal.org/query/uniprot/P48995 PubMed 10766822 http://www.ncbi.nlm.nih.gov/pubmed/10766822 PubMed 11139478 http://www.ncbi.nlm.nih.gov/pubmed/11139478 PubMed 12032305 http://www.ncbi.nlm.nih.gov/pubmed/12032305 PubMed 15016832 http://www.ncbi.nlm.nih.gov/pubmed/15016832 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15757897 http://www.ncbi.nlm.nih.gov/pubmed/15757897 PubMed 17850865 http://www.ncbi.nlm.nih.gov/pubmed/17850865 PubMed 19945390 http://www.ncbi.nlm.nih.gov/pubmed/19945390 PubMed 7568191 http://www.ncbi.nlm.nih.gov/pubmed/7568191 PubMed 7589464 http://www.ncbi.nlm.nih.gov/pubmed/7589464 PubMed 8663995 http://www.ncbi.nlm.nih.gov/pubmed/8663995 Reactome R-HSA-3295583 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-3295583 Reactome R-HSA-418890 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-418890 Reactome R-HSA-5578775 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5578775 Reactome R-HSA-983695 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-983695 RefSeq NP_001238774 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001238774 RefSeq NP_003295 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_003295 SMART SM00248 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00248 STRING 9606.ENSP00000273482 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000273482&targetmode=cogs SUPFAM SSF48403 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48403 TCDB 1.A.4.1 http://www.tcdb.org/search/result.php?tc=1.A.4.1 TIGRFAMs TIGR00870 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00870 UCSC uc003evb http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003evb&org=rat UniGene Hs.250687 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.250687 UniGene Hs.684389 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.684389 UniProtKB TRPC1_HUMAN http://www.uniprot.org/uniprot/TRPC1_HUMAN UniProtKB-AC P48995 http://www.uniprot.org/uniprot/P48995 charge swissprot:TRPC1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:TRPC1_HUMAN eggNOG ENOG410XQ0Y http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XQ0Y eggNOG KOG3609 http://eggnogapi.embl.de/nog_data/html/tree/KOG3609 epestfind swissprot:TRPC1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:TRPC1_HUMAN garnier swissprot:TRPC1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:TRPC1_HUMAN helixturnhelix swissprot:TRPC1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:TRPC1_HUMAN hmoment swissprot:TRPC1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:TRPC1_HUMAN iep swissprot:TRPC1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:TRPC1_HUMAN inforesidue swissprot:TRPC1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:TRPC1_HUMAN neXtProt NX_P48995 http://www.nextprot.org/db/entry/NX_P48995 octanol swissprot:TRPC1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:TRPC1_HUMAN pepcoil swissprot:TRPC1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:TRPC1_HUMAN pepdigest swissprot:TRPC1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:TRPC1_HUMAN pepinfo swissprot:TRPC1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:TRPC1_HUMAN pepnet swissprot:TRPC1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:TRPC1_HUMAN pepstats swissprot:TRPC1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:TRPC1_HUMAN pepwheel swissprot:TRPC1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:TRPC1_HUMAN pepwindow swissprot:TRPC1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:TRPC1_HUMAN sigcleave swissprot:TRPC1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:TRPC1_HUMAN ## Database ID URL or Descriptions # Ensembl ENST00000344941 ENSP00000340402; ENSG00000188991 # FUNCTION S15A5_HUMAN Proton oligopeptide cotransporter. {ECO 0000305}. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0015293 symporter activity; IEA:UniProtKB-KW. # GO_process GO:0015031 protein transport; IEA:UniProtKB-KW. # GO_process GO:0015833 peptide transport; IEA:UniProtKB-KW. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # HGNC HGNC:33455 SLC15A5 # InterPro IPR000109 POT_fam # InterPro IPR020846 MFS_dom # KEGG_Brite ko02001 Solute carrier family # Organism S15A5_HUMAN Homo sapiens (Human) # PANTHER PTHR11654 PTHR11654 # Pfam PF00854 PTR2 # Proteomes UP000005640 Chromosome 12 # RecName S15A5_HUMAN Solute carrier family 15 member 5 # RefSeq NP_001164269 NM_001170798.1 # SIMILARITY Belongs to the PTR2/POT transporter (TC 2.A.17) family. {ECO 0000305}. # SUBCELLULAR LOCATION S15A5_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # SUPFAM SSF103473 SSF103473; 3 # TCDB 2.A.17.3.10 the proton-dependent oligopeptide transporter (pot/ptr) family # UCSC uc021qvs human # eggNOG COG3104 LUCA # eggNOG KOG1237 Eukaryota BLAST swissprot:S15A5_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S15A5_HUMAN BioCyc ZFISH:G66-32045-MONOMER http://biocyc.org/getid?id=ZFISH:G66-32045-MONOMER COXPRESdb 729025 http://coxpresdb.jp/data/gene/729025.shtml DOI 10.1038/nature04569 http://dx.doi.org/10.1038/nature04569 EMBL AC073574 http://www.ebi.ac.uk/ena/data/view/AC073574 Ensembl ENST00000344941 http://www.ensembl.org/id/ENST00000344941 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0015293 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015293 GO_process GO:0015031 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015031 GO_process GO:0015833 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015833 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GeneCards SLC15A5 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC15A5 GeneID 729025 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=729025 GeneTree ENSGT00530000062961 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000062961 HGNC HGNC:33455 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:33455 HOGENOM HOG000060235 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000060235&db=HOGENOM6 HPA HPA041638 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA041638 InParanoid A6NIM6 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=A6NIM6 InterPro IPR000109 http://www.ebi.ac.uk/interpro/entry/IPR000109 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 729025 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=729025 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:729025 http://www.genome.jp/dbget-bin/www_bget?hsa:729025 KEGG_Orthology KO:K14639 http://www.genome.jp/dbget-bin/www_bget?KO:K14639 OMA FYLVLQY http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=FYLVLQY OrthoDB EOG091G0GF9 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0GF9 PANTHER PTHR11654 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11654 PSORT swissprot:S15A5_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S15A5_HUMAN PSORT-B swissprot:S15A5_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S15A5_HUMAN PSORT2 swissprot:S15A5_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S15A5_HUMAN Pfam PF00854 http://pfam.xfam.org/family/PF00854 PharmGKB PA164725785 http://www.pharmgkb.org/do/serve?objId=PA164725785&objCls=Gene Phobius swissprot:S15A5_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S15A5_HUMAN PhylomeDB A6NIM6 http://phylomedb.org/?seqid=A6NIM6 ProteinModelPortal A6NIM6 http://www.proteinmodelportal.org/query/uniprot/A6NIM6 PubMed 16541075 http://www.ncbi.nlm.nih.gov/pubmed/16541075 RefSeq NP_001164269 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001164269 STRING 9606.ENSP00000340402 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000340402&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.17.3.10 http://www.tcdb.org/search/result.php?tc=2.A.17.3.10 UCSC uc021qvs http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc021qvs&org=rat UniGene Hs.692712 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.692712 UniProtKB S15A5_HUMAN http://www.uniprot.org/uniprot/S15A5_HUMAN UniProtKB-AC A6NIM6 http://www.uniprot.org/uniprot/A6NIM6 charge swissprot:S15A5_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S15A5_HUMAN eggNOG COG3104 http://eggnogapi.embl.de/nog_data/html/tree/COG3104 eggNOG KOG1237 http://eggnogapi.embl.de/nog_data/html/tree/KOG1237 epestfind swissprot:S15A5_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S15A5_HUMAN garnier swissprot:S15A5_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S15A5_HUMAN helixturnhelix swissprot:S15A5_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S15A5_HUMAN hmoment swissprot:S15A5_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S15A5_HUMAN iep swissprot:S15A5_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S15A5_HUMAN inforesidue swissprot:S15A5_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S15A5_HUMAN neXtProt NX_A6NIM6 http://www.nextprot.org/db/entry/NX_A6NIM6 octanol swissprot:S15A5_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S15A5_HUMAN pepcoil swissprot:S15A5_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S15A5_HUMAN pepdigest swissprot:S15A5_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S15A5_HUMAN pepinfo swissprot:S15A5_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S15A5_HUMAN pepnet swissprot:S15A5_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S15A5_HUMAN pepstats swissprot:S15A5_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S15A5_HUMAN pepwheel swissprot:S15A5_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S15A5_HUMAN pepwindow swissprot:S15A5_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S15A5_HUMAN sigcleave swissprot:S15A5_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S15A5_HUMAN ## Database ID URL or Descriptions # AltName KCJ15_HUMAN Inward rectifier K(+) channel Kir1.3 # AltName KCJ15_HUMAN Inward rectifier K(+) channel Kir4.2 # AltName KCJ15_HUMAN Potassium channel, inwardly rectifying subfamily J member 15 # ChiTaRS KCNJ15 human # DrugBank DB01392 Yohimbine # Ensembl ENST00000328656 ENSP00000331698; ENSG00000157551 # Ensembl ENST00000398930 ENSP00000381904; ENSG00000157551 # Ensembl ENST00000398932 ENSP00000381905; ENSG00000157551 # Ensembl ENST00000398934 ENSP00000381907; ENSG00000157551 # Ensembl ENST00000398938 ENSP00000381911; ENSG00000157551 # Ensembl ENST00000612702 ENSP00000484960; ENSG00000157551 # Ensembl ENST00000613499 ENSP00000479100; ENSG00000157551 # ExpressionAtlas Q99712 baseline and differential # FUNCTION KCJ15_HUMAN Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_function GO:0005242 inward rectifier potassium channel activity; TAS:ProtInc. # GO_function GO:0015467 G-protein activated inward rectifier potassium channel activity; TAS:Reactome. # GO_process GO:0006813 potassium ion transport; TAS:ProtInc. # GO_process GO:0010107 potassium ion import; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0055085 transmembrane transport # Gene3D 2.60.40.1400 -; 1. # Genevisible Q99712 HS # HGNC HGNC:6261 KCNJ15 # INTERACTION KCJ15_HUMAN Q63ZW7 Inadl (xeno); NbExp=4; IntAct=EBI-7082607, EBI-8366894; # IntAct Q99712 2 # InterPro IPR003270 K_chnl_inward-rec_Kir1.3 # InterPro IPR013518 K_chnl_inward-rec_Kir_cyto # InterPro IPR014756 Ig_E-set # InterPro IPR016449 K_chnl_inward-rec_Kir # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04971 Gastric acid secretion # MIM 602106 gene # Organism KCJ15_HUMAN Homo sapiens (Human) # PANTHER PTHR11767 PTHR11767 # PANTHER PTHR11767:SF20 PTHR11767:SF20 # PIRSF PIRSF005465 GIRK_kir # PRINTS PR01320 KIRCHANNEL # PRINTS PR01323 KIR13CHANNEL # Pfam PF01007 IRK # Proteomes UP000005640 Chromosome 21 # Reactome R-HSA-1296041 Activation of G protein gated Potassium channels # Reactome R-HSA-997272 Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits # RecName KCJ15_HUMAN ATP-sensitive inward rectifier potassium channel 15 # RefSeq NP_001263364 NM_001276435.1 # RefSeq NP_001263365 NM_001276436.1 # RefSeq NP_001263366 NM_001276437.1 # RefSeq NP_001263367 NM_001276438.1 # RefSeq NP_001263368 NM_001276439.1 # RefSeq NP_002234 NM_002243.4 # RefSeq NP_733932 NM_170736.2 # RefSeq NP_733933 NM_170737.2 # RefSeq XP_005261032 XM_005260975.2 # RefSeq XP_006724065 XM_006724002.2 # RefSeq XP_011527862 XM_011529560.2 # RefSeq XP_011527863 XM_011529561.2 # RefSeq XP_016883832 XM_017028343.1 # RefSeq XP_016883833 XM_017028344.1 # RefSeq XP_016883834 XM_017028345.1 # SIMILARITY Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ15 subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION KCJ15_HUMAN Membrane; Multi-pass membrane protein. # SUBUNIT Interacts with PATJ. {ECO:0000269|PubMed 9647694}. # SUPFAM SSF81296 SSF81296 # UCSC uc002ywv human # eggNOG ENOG410XQ62 LUCA # eggNOG KOG3827 Eukaryota BLAST swissprot:KCJ15_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCJ15_HUMAN BioCyc ZFISH:ENSG00000157551-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000157551-MONOMER COXPRESdb 3772 http://coxpresdb.jp/data/gene/3772.shtml CleanEx HS_KCNJ14 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNJ14 CleanEx HS_KCNJ15 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNJ15 DOI 10.1006/geno.1997.4865 http://dx.doi.org/10.1006/geno.1997.4865 DOI 10.1006/mcne.1998.0679 http://dx.doi.org/10.1006/mcne.1998.0679 DOI 10.1038/35012518 http://dx.doi.org/10.1038/35012518 DOI 10.1074/jbc.272.1.586 http://dx.doi.org/10.1074/jbc.272.1.586 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1133427 http://dx.doi.org/10.1126/science.1133427 DrugBank DB01392 http://www.drugbank.ca/drugs/DB01392 EMBL AP001434 http://www.ebi.ac.uk/ena/data/view/AP001434 EMBL BC013327 http://www.ebi.ac.uk/ena/data/view/BC013327 EMBL CH471079 http://www.ebi.ac.uk/ena/data/view/CH471079 EMBL CH471079 http://www.ebi.ac.uk/ena/data/view/CH471079 EMBL D87291 http://www.ebi.ac.uk/ena/data/view/D87291 EMBL U73191 http://www.ebi.ac.uk/ena/data/view/U73191 EMBL Y10745 http://www.ebi.ac.uk/ena/data/view/Y10745 Ensembl ENST00000328656 http://www.ensembl.org/id/ENST00000328656 Ensembl ENST00000398930 http://www.ensembl.org/id/ENST00000398930 Ensembl ENST00000398932 http://www.ensembl.org/id/ENST00000398932 Ensembl ENST00000398934 http://www.ensembl.org/id/ENST00000398934 Ensembl ENST00000398938 http://www.ensembl.org/id/ENST00000398938 Ensembl ENST00000612702 http://www.ensembl.org/id/ENST00000612702 Ensembl ENST00000613499 http://www.ensembl.org/id/ENST00000613499 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0005242 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005242 GO_function GO:0015467 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015467 GO_process GO:0006813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006813 GO_process GO:0010107 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010107 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 2.60.40.1400 http://www.cathdb.info/version/latest/superfamily/2.60.40.1400 GeneCards KCNJ15 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNJ15 GeneID 3772 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=3772 GeneTree ENSGT00760000118842 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118842 HGNC HGNC:6261 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6261 HOGENOM HOG000237326 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000237326&db=HOGENOM6 HOVERGEN HBG006178 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG006178&db=HOVERGEN HPA HPA016702 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA016702 InParanoid Q99712 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q99712 IntAct Q99712 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q99712* InterPro IPR003270 http://www.ebi.ac.uk/interpro/entry/IPR003270 InterPro IPR013518 http://www.ebi.ac.uk/interpro/entry/IPR013518 InterPro IPR014756 http://www.ebi.ac.uk/interpro/entry/IPR014756 InterPro IPR016449 http://www.ebi.ac.uk/interpro/entry/IPR016449 Jabion 3772 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=3772 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:3772 http://www.genome.jp/dbget-bin/www_bget?hsa:3772 KEGG_Orthology KO:K05008 http://www.genome.jp/dbget-bin/www_bget?KO:K05008 KEGG_Pathway ko04971 http://www.genome.jp/kegg-bin/show_pathway?ko04971 MIM 602106 http://www.ncbi.nlm.nih.gov/omim/602106 MINT MINT-103775 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-103775 OMA CPLAIFT http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=CPLAIFT OrthoDB EOG091G08HC http://cegg.unige.ch/orthodb/results?searchtext=EOG091G08HC PANTHER PTHR11767 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11767 PANTHER PTHR11767:SF20 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11767:SF20 PRINTS PR01320 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01320 PRINTS PR01323 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01323 PSORT swissprot:KCJ15_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCJ15_HUMAN PSORT-B swissprot:KCJ15_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCJ15_HUMAN PSORT2 swissprot:KCJ15_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCJ15_HUMAN Pfam PF01007 http://pfam.xfam.org/family/PF01007 PharmGKB PA30046 http://www.pharmgkb.org/do/serve?objId=PA30046&objCls=Gene Phobius swissprot:KCJ15_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCJ15_HUMAN PhylomeDB Q99712 http://phylomedb.org/?seqid=Q99712 ProteinModelPortal Q99712 http://www.proteinmodelportal.org/query/uniprot/Q99712 PubMed 10830953 http://www.ncbi.nlm.nih.gov/pubmed/10830953 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16959974 http://www.ncbi.nlm.nih.gov/pubmed/16959974 PubMed 8995301 http://www.ncbi.nlm.nih.gov/pubmed/8995301 PubMed 9299242 http://www.ncbi.nlm.nih.gov/pubmed/9299242 PubMed 9647694 http://www.ncbi.nlm.nih.gov/pubmed/9647694 Reactome R-HSA-1296041 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1296041 Reactome R-HSA-997272 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-997272 RefSeq NP_001263364 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001263364 RefSeq NP_001263365 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001263365 RefSeq NP_001263366 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001263366 RefSeq NP_001263367 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001263367 RefSeq NP_001263368 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001263368 RefSeq NP_002234 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_002234 RefSeq NP_733932 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_733932 RefSeq NP_733933 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_733933 RefSeq XP_005261032 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005261032 RefSeq XP_006724065 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006724065 RefSeq XP_011527862 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011527862 RefSeq XP_011527863 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011527863 RefSeq XP_016883832 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016883832 RefSeq XP_016883833 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016883833 RefSeq XP_016883834 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016883834 SMR Q99712 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q99712 STRING 9606.ENSP00000331698 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000331698&targetmode=cogs SUPFAM SSF81296 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81296 UCSC uc002ywv http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002ywv&org=rat UniGene Hs.411299 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.411299 UniProtKB KCJ15_HUMAN http://www.uniprot.org/uniprot/KCJ15_HUMAN UniProtKB-AC Q99712 http://www.uniprot.org/uniprot/Q99712 charge swissprot:KCJ15_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCJ15_HUMAN eggNOG ENOG410XQ62 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XQ62 eggNOG KOG3827 http://eggnogapi.embl.de/nog_data/html/tree/KOG3827 epestfind swissprot:KCJ15_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCJ15_HUMAN garnier swissprot:KCJ15_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCJ15_HUMAN helixturnhelix swissprot:KCJ15_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCJ15_HUMAN hmoment swissprot:KCJ15_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCJ15_HUMAN iep swissprot:KCJ15_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCJ15_HUMAN inforesidue swissprot:KCJ15_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCJ15_HUMAN neXtProt NX_Q99712 http://www.nextprot.org/db/entry/NX_Q99712 octanol swissprot:KCJ15_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCJ15_HUMAN pepcoil swissprot:KCJ15_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCJ15_HUMAN pepdigest swissprot:KCJ15_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCJ15_HUMAN pepinfo swissprot:KCJ15_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCJ15_HUMAN pepnet swissprot:KCJ15_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCJ15_HUMAN pepstats swissprot:KCJ15_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCJ15_HUMAN pepwheel swissprot:KCJ15_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCJ15_HUMAN pepwindow swissprot:KCJ15_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCJ15_HUMAN sigcleave swissprot:KCJ15_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCJ15_HUMAN ## Database ID URL or Descriptions # AltName ADT3_HUMAN ADP,ATP carrier protein 3 # AltName ADT3_HUMAN ADP,ATP carrier protein, isoform T2 # AltName ADT3_HUMAN Adenine nucleotide translocator 3 # AltName ADT3_HUMAN Solute carrier family 25 member 6 # AltName ADT3_HUMAN Solute carrier family 25 member 6 # BioGrid 106790 112 # DrugBank DB00720 Clodronate # Ensembl ENST00000381401 ENSP00000370808; ENSG00000169100 # ExpressionAtlas P12236 baseline and differential # FUNCTION ADT3_HUMAN Catalyzes the exchange of cytoplasmic ADP with mitochondrial ATP across the mitochondrial inner membrane. May participate in the formation of the permeability transition pore complex (PTPC) responsible for the release of mitochondrial products that triggers apoptosis. {ECO 0000269|PubMed 15033708}. # GO_component GO:0005634 nucleus; IDA:UniProtKB. # GO_component GO:0005739 mitochondrion; IDA:UniProtKB. # GO_component GO:0005743 mitochondrial inner membrane; TAS:Reactome. # GO_component GO:0005744 mitochondrial inner membrane presequence translocase complex; TAS:UniProtKB. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0031012 extracellular matrix; IDA:BHF-UCL. # GO_function ADT3_HUMAN GO 0005471 ATP ADP antiporter activity; NAS UniProtKB. # GO_function GO:0015207 adenine transmembrane transporter activity; TAS:Reactome. # GO_process GO:0006626 protein targeting to mitochondrion; TAS:Reactome. # GO_process GO:0006915 apoptotic process; IEA:UniProtKB-KW. # GO_process GO:0046732 active induction of host immune response by virus; TAS:Reactome. # GO_process GO:0050796 regulation of insulin secretion; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005739 mitochondrion # GOslim_component GO:0043234 protein complex # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006605 protein targeting # GOslim_process GO:0008150 biological_process # GOslim_process GO:0008219 cell death # GOslim_process GO:0044403 symbiosis, encompassing mutualism through parasitism # Gene3D 1.50.40.10 -; 1. # Genevisible P12236 HS # HGNC HGNC:10992 SLC25A6 # INTERACTION ADT3_HUMAN P63010 AP2B1; NbExp=3; IntAct=EBI-356254, EBI-432924; Q15323 KRT31; NbExp=3; IntAct=EBI-356254, EBI-948001; Q5S007 LRRK2; NbExp=2; IntAct=EBI-356254, EBI-5323863; Q9BRK4 LZTS2; NbExp=3; IntAct=EBI-356254, EBI-741037; Q9UJV3-2 MID2; NbExp=3; IntAct=EBI-356254, EBI-10172526; Q5JR59 MTUS2; NbExp=4; IntAct=EBI-356254, EBI-742948; Q7Z3S9 NOTCH2NL; NbExp=3; IntAct=EBI-356254, EBI-945833; Q8WW24 TEKT4; NbExp=3; IntAct=EBI-356254, EBI-750487; Q13077 TRAF1; NbExp=3; IntAct=EBI-356254, EBI-359224; P36406 TRIM23; NbExp=3; IntAct=EBI-356254, EBI-740098; Q15654 TRIP6; NbExp=3; IntAct=EBI-356254, EBI-742327; # IntAct P12236 64 # InterPro IPR002067 Mit_carrier # InterPro IPR002113 Aden_trnslctor # InterPro IPR018108 Mitochondrial_sb/sol_carrier # InterPro IPR023395 Mt_carrier_dom # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02001 Solute carrier family # KEGG_Pathway ko04020 Calcium signaling pathway # KEGG_Pathway ko05012 Parkinson's disease # KEGG_Pathway ko05016 Huntington's disease # KEGG_Pathway ko05166 HTLV-I infection # MIM 300151 gene # MIM 403000 gene # MISCELLANEOUS ADT3_HUMAN The gene coding for this protein is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes. # MISCELLANEOUS The transmembrane helices are not perpendicular to the plane of the membrane, but cross the membrane at an angle. Odd-numbered transmembrane helices exhibit a sharp kink, due to the presence of a conserved proline residue (By similarity). {ECO 0000250}. # Organism ADT3_HUMAN Homo sapiens (Human) # PIR S03894 S03894 # PRINTS PR00926 MITOCARRIER # PRINTS PR00927 ADPTRNSLCASE # PROSITE PS50920 SOLCAR; 3 # Pfam PF00153 Mito_carr; 3 # Proteomes UP000005640 Chromosome X # Reactome R-HSA-1268020 Mitochondrial protein import # Reactome R-HSA-168277 Influenza Virus Induced Apoptosis # Reactome R-HSA-180897 Vpr-mediated induction of apoptosis by mitochondrial outer membrane permeabilization # Reactome R-HSA-422356 Regulation of insulin secretion # RecName ADT3_HUMAN ADP/ATP translocase 3 # RecName ADT3_HUMAN ADP/ATP translocase 3, N-terminally processed # RefSeq NP_001627 NM_001636.3 # SIMILARITY Belongs to the mitochondrial carrier (TC 2.A.29) family. {ECO 0000305}. # SIMILARITY Contains 3 Solcar repeats. {ECO:0000255|PROSITE- ProRule PRU00282}. # SUBCELLULAR LOCATION ADT3_HUMAN Mitochondrion inner membrane; Multi-pass membrane protein. Note=The complex formed with ARL2BP, ARL2 and SLC25A6 is expressed in mitochondria. {ECO 0000250}. # SUBUNIT ADT3_HUMAN Found in a complex with ARL2, ARL2BP and SLC25A6 (By similarity). Homodimer. Interacts with influenza A virus PB1-F2 protein and HIV-1 Vpr. {ECO 0000250, ECO 0000269|PubMed 16120388, ECO 0000269|PubMed 16201016}. # SUPFAM SSF103506 SSF103506 # TCDB 2.A.29.1.10 the mitochondrial carrier (mc) family # eggNOG ENOG410XNW0 LUCA # eggNOG KOG0749 Eukaryota BLAST swissprot:ADT3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ADT3_HUMAN BioCyc ZFISH:ENSG00000169100-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000169100-MONOMER COXPRESdb 293 http://coxpresdb.jp/data/gene/293.shtml CleanEx HS_SLC25A6 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC25A6 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1016/0022-2836(89)90477-4 http://dx.doi.org/10.1016/0022-2836(89)90477-4 DOI 10.1016/j.mito.2004.06.012 http://dx.doi.org/10.1016/j.mito.2004.06.012 DOI 10.1016/j.molcel.2008.07.007 http://dx.doi.org/10.1016/j.molcel.2008.07.007 DOI 10.1021/ac9004309 http://dx.doi.org/10.1021/ac9004309 DOI 10.1073/pnas.85.2.377 http://dx.doi.org/10.1073/pnas.85.2.377 DOI 10.1074/mcp.M111.015131 http://dx.doi.org/10.1074/mcp.M111.015131 DOI 10.1074/mcp.O113.027870 http://dx.doi.org/10.1074/mcp.O113.027870 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1175371 http://dx.doi.org/10.1126/science.1175371 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DOI 10.1196/annals.1299.022 http://dx.doi.org/10.1196/annals.1299.022 DOI 10.1371/journal.ppat.0010004 http://dx.doi.org/10.1371/journal.ppat.0010004 DrugBank DB00720 http://www.drugbank.ca/drugs/DB00720 EMBL AY007135 http://www.ebi.ac.uk/ena/data/view/AY007135 EMBL BC007295 http://www.ebi.ac.uk/ena/data/view/BC007295 EMBL BC007850 http://www.ebi.ac.uk/ena/data/view/BC007850 EMBL BC008737 http://www.ebi.ac.uk/ena/data/view/BC008737 EMBL BC008935 http://www.ebi.ac.uk/ena/data/view/BC008935 EMBL BC014775 http://www.ebi.ac.uk/ena/data/view/BC014775 EMBL BC031912 http://www.ebi.ac.uk/ena/data/view/BC031912 EMBL J03592 http://www.ebi.ac.uk/ena/data/view/J03592 Ensembl ENST00000381401 http://www.ensembl.org/id/ENST00000381401 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0005744 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005744 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0031012 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031012 GO_function GO:0005471 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005471 GO_function GO:0015207 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015207 GO_process GO:0006626 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006626 GO_process GO:0006915 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006915 GO_process GO:0046732 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046732 GO_process GO:0050796 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050796 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006605 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006605 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0008219 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008219 GOslim_process GO:0044403 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044403 Gene3D 1.50.40.10 http://www.cathdb.info/version/latest/superfamily/1.50.40.10 GeneCards SLC25A6 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC25A6 GeneID 293 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=293 GeneTree ENSGT00390000011543 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000011543 H-InvDB HIX0034763 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0034763 HGNC HGNC:10992 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10992 HOVERGEN HBG108348 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG108348&db=HOVERGEN HPA HPA060665 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA060665 InParanoid P12236 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P12236 IntAct P12236 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P12236* InterPro IPR002067 http://www.ebi.ac.uk/interpro/entry/IPR002067 InterPro IPR002113 http://www.ebi.ac.uk/interpro/entry/IPR002113 InterPro IPR018108 http://www.ebi.ac.uk/interpro/entry/IPR018108 InterPro IPR023395 http://www.ebi.ac.uk/interpro/entry/IPR023395 Jabion 293 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=293 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:293 http://www.genome.jp/dbget-bin/www_bget?hsa:293 KEGG_Orthology KO:K05863 http://www.genome.jp/dbget-bin/www_bget?KO:K05863 KEGG_Pathway ko04020 http://www.genome.jp/kegg-bin/show_pathway?ko04020 KEGG_Pathway ko05012 http://www.genome.jp/kegg-bin/show_pathway?ko05012 KEGG_Pathway ko05016 http://www.genome.jp/kegg-bin/show_pathway?ko05016 KEGG_Pathway ko05166 http://www.genome.jp/kegg-bin/show_pathway?ko05166 MIM 300151 http://www.ncbi.nlm.nih.gov/omim/300151 MIM 403000 http://www.ncbi.nlm.nih.gov/omim/403000 MINT MINT-1154461 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1154461 OMA TRSHVIN http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=TRSHVIN OrthoDB EOG091G0ULB http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0ULB PRINTS PR00926 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00926 PRINTS PR00927 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00927 PROSITE PS50920 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50920 PSORT swissprot:ADT3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ADT3_HUMAN PSORT-B swissprot:ADT3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ADT3_HUMAN PSORT2 swissprot:ADT3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ADT3_HUMAN Pfam PF00153 http://pfam.xfam.org/family/PF00153 PharmGKB PA35868 http://www.pharmgkb.org/do/serve?objId=PA35868&objCls=Gene Phobius swissprot:ADT3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ADT3_HUMAN PhylomeDB P12236 http://phylomedb.org/?seqid=P12236 ProteinModelPortal P12236 http://www.proteinmodelportal.org/query/uniprot/P12236 PubMed 15033708 http://www.ncbi.nlm.nih.gov/pubmed/15033708 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16120388 http://www.ncbi.nlm.nih.gov/pubmed/16120388 PubMed 16201016 http://www.ncbi.nlm.nih.gov/pubmed/16201016 PubMed 18691976 http://www.ncbi.nlm.nih.gov/pubmed/18691976 PubMed 19413330 http://www.ncbi.nlm.nih.gov/pubmed/19413330 PubMed 19608861 http://www.ncbi.nlm.nih.gov/pubmed/19608861 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 22223895 http://www.ncbi.nlm.nih.gov/pubmed/22223895 PubMed 24129315 http://www.ncbi.nlm.nih.gov/pubmed/24129315 PubMed 2541251 http://www.ncbi.nlm.nih.gov/pubmed/2541251 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 2829183 http://www.ncbi.nlm.nih.gov/pubmed/2829183 Reactome R-HSA-1268020 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1268020 Reactome R-HSA-168277 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-168277 Reactome R-HSA-180897 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-180897 Reactome R-HSA-422356 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-422356 RefSeq NP_001627 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001627 SMR P12236 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P12236 STRING 9606.ENSP00000370808 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000370808&targetmode=cogs SUPFAM SSF103506 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103506 TCDB 2.A.29.1.10 http://www.tcdb.org/search/result.php?tc=2.A.29.1.10 UniGene Hs.350927 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.350927 UniGene Hs.680626 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.680626 UniProtKB ADT3_HUMAN http://www.uniprot.org/uniprot/ADT3_HUMAN UniProtKB-AC P12236 http://www.uniprot.org/uniprot/P12236 charge swissprot:ADT3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ADT3_HUMAN eggNOG ENOG410XNW0 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XNW0 eggNOG KOG0749 http://eggnogapi.embl.de/nog_data/html/tree/KOG0749 epestfind swissprot:ADT3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ADT3_HUMAN garnier swissprot:ADT3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ADT3_HUMAN helixturnhelix swissprot:ADT3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ADT3_HUMAN hmoment swissprot:ADT3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ADT3_HUMAN iep swissprot:ADT3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ADT3_HUMAN inforesidue swissprot:ADT3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ADT3_HUMAN neXtProt NX_P12236 http://www.nextprot.org/db/entry/NX_P12236 octanol swissprot:ADT3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ADT3_HUMAN pepcoil swissprot:ADT3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ADT3_HUMAN pepdigest swissprot:ADT3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ADT3_HUMAN pepinfo swissprot:ADT3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ADT3_HUMAN pepnet swissprot:ADT3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ADT3_HUMAN pepstats swissprot:ADT3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ADT3_HUMAN pepwheel swissprot:ADT3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ADT3_HUMAN pepwindow swissprot:ADT3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ADT3_HUMAN sigcleave swissprot:ADT3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ADT3_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS ITBP1_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=ICAP1-alpha; IsoId=O14713-1; Sequence=Displayed; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=2; Synonyms=ICAP1-beta; IsoId=O14713-2; Sequence=VSP_003898; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; # AltName ITBP1_HUMAN Integrin cytoplasmic domain-associated protein 1 # BioGrid 114689 13 # CCDS CCDS1662 -. [O14713-1] # CCDS CCDS1663 -. [O14713-2] # ChiTaRS ITGB1BP1 human # Ensembl ENST00000238091 ENSP00000238091; ENSG00000119185. [O14713-2] # Ensembl ENST00000355346 ENSP00000347504; ENSG00000119185. [O14713-1] # Ensembl ENST00000360635 ENSP00000353850; ENSG00000119185. [O14713-1] # Ensembl ENST00000488451 ENSP00000419524; ENSG00000119185. [O14713-2] # ExpressionAtlas O14713 baseline and differential # FUNCTION ITBP1_HUMAN Key regulator of the integrin-mediated cell-matrix interaction signaling by binding to the ITGB1 cytoplasmic tail and preventing the activation of integrin alpha-5/beta-1 (heterodimer of ITGA5 and ITGB1) by talin or FERMT1. Plays a role in cell proliferation, differentiation, spreading, adhesion and migration in the context of mineralization and bone development and angiogenesis. Stimulates cellular proliferation in a fibronectin- dependent manner. Involved in the regulation of beta-1 integrin- containing focal adhesion (FA) site dynamics by controlling its assembly rate during cell adhesion; inhibits beta-1 integrin clustering within FA by directly competing with talin TLN1, and hence stimulates osteoblast spreading and migration in a fibronectin-and/or collagen-dependent manner. Acts as a guanine nucleotide dissociation inhibitor (GDI) by regulating Rho family GTPases during integrin-mediated cell matrix adhesion; reduces the level of active GTP-bound form of both CDC42 and RAC1 GTPases upon cell adhesion to fibronectin. Stimulates the release of active CDC42 from the membranes to maintain it in an inactive cytoplasmic pool. Participates in the translocation of the Rho-associated protein kinase ROCK1 to membrane ruffles at cell leading edges of the cell membrane, leading to an increase of myoblast cell migration on laminin. Plays a role in bone mineralization at a late stage of osteoblast differentiation; modulates the dynamic formation of focal adhesions into fibrillar adhesions, which are adhesive structures responsible for fibronectin deposition and fibrillogenesis. Plays a role in blood vessel development; acts as a negative regulator of angiogenesis by attenuating endothelial cell proliferation and migration, lumen formation and sprouting angiogenesis by promoting AKT phosphorylation and inhibiting ERK1/2 phosphorylation through activation of the Notch signaling pathway. Promotes transcriptional activity of the MYC promoter. {ECO 0000269|PubMed 11741838, ECO 0000269|PubMed 11807099, ECO 0000269|PubMed 11919189, ECO 0000269|PubMed 12473654, ECO 0000269|PubMed 15703214, ECO 0000269|PubMed 17916086, ECO 0000269|PubMed 20616313, ECO 0000269|PubMed 21768292, ECO 0000269|Ref.19}. # GO_component GO:0001726 ruffle; IDA:HGNC. # GO_component GO:0005634 nucleus; IDA:UniProtKB. # GO_component GO:0005737 cytoplasm; IDA:UniProtKB. # GO_component GO:0005829 cytosol; IDA:HGNC. # GO_component GO:0005856 cytoskeleton; ISS:UniProtKB. # GO_component GO:0005886 plasma membrane; ISS:UniProtKB. # GO_component GO:0016020 membrane; NAS:UniProtKB. # GO_component GO:0030027 lamellipodium; IDA:HGNC. # GO_component GO:0048471 perinuclear region of cytoplasm; IDA:UniProtKB. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_component GO:0071944 cell periphery; IDA:UniProtKB. # GO_function GO:0005092 GDP-dissociation inhibitor activity; IDA:UniProtKB. # GO_function GO:0005178 integrin binding; IDA:UniProtKB. # GO_function GO:0008565 protein transporter activity; IDA:UniProtKB. # GO_function GO:0032403 protein complex binding; IDA:UniProtKB. # GO_process GO:0002043 blood vessel endothelial cell proliferation involved in sprouting angiogenesis; IDA:UniProtKB. # GO_process GO:0006351 transcription, DNA-templated; IEA:UniProtKB-KW. # GO_process GO:0006469 negative regulation of protein kinase activity; IDA:UniProtKB. # GO_process GO:0006933 negative regulation of cell adhesion involved in substrate-bound cell migration; ISS:UniProtKB. # GO_process GO:0007160 cell-matrix adhesion; IDA:UniProtKB. # GO_process GO:0007219 Notch signaling pathway; IEA:UniProtKB-KW. # GO_process GO:0007229 integrin-mediated signaling pathway; IDA:UniProtKB. # GO_process GO:0008284 positive regulation of cell proliferation; IDA:UniProtKB. # GO_process GO:0008285 negative regulation of cell proliferation; IDA:UniProtKB. # GO_process GO:0010595 positive regulation of endothelial cell migration; IDA:UniProtKB. # GO_process GO:0010764 negative regulation of fibroblast migration; ISS:UniProtKB. # GO_process GO:0015031 protein transport; IDA:UniProtKB. # GO_process GO:0016477 cell migration; TAS:HGNC. # GO_process GO:0030154 cell differentiation; IEA:UniProtKB-KW. # GO_process GO:0031214 biomineral tissue development; IEA:UniProtKB-KW. # GO_process GO:0032091 negative regulation of protein binding; IDA:UniProtKB. # GO_process GO:0032148 activation of protein kinase B activity; IDA:UniProtKB. # GO_process GO:0033622 integrin activation; ISS:UniProtKB. # GO_process GO:0033628 regulation of cell adhesion mediated by integrin; ISS:UniProtKB. # GO_process GO:0035148 tube formation; IDA:UniProtKB. # GO_process GO:0035556 intracellular signal transduction; TAS:ProtInc. # GO_process GO:0035924 cellular response to vascular endothelial growth factor stimulus; IDA:UniProtKB. # GO_process GO:0043087 regulation of GTPase activity; IDA:UniProtKB. # GO_process GO:0043113 receptor clustering; ISS:UniProtKB. # GO_process GO:0044344 cellular response to fibroblast growth factor stimulus; IDA:UniProtKB. # GO_process GO:0045747 positive regulation of Notch signaling pathway; IDA:UniProtKB. # GO_process GO:0045944 positive regulation of transcription from RNA polymerase II promoter; IDA:UniProtKB. # GO_process GO:0050880 regulation of blood vessel size; IDA:UniProtKB. # GO_process GO:0051451 myoblast migration; ISS:UniProtKB. # GO_process GO:0051496 positive regulation of stress fiber assembly; ISS:UniProtKB. # GO_process GO:0051781 positive regulation of cell division; IEA:UniProtKB-KW. # GO_process GO:0051894 positive regulation of focal adhesion assembly; IEA:Ensembl. # GO_process GO:0051895 negative regulation of focal adhesion assembly; IDA:UniProtKB. # GO_process GO:0051897 positive regulation of protein kinase B signaling; IDA:UniProtKB. # GO_process GO:0070373 negative regulation of ERK1 and ERK2 cascade; IDA:UniProtKB. # GO_process GO:0090051 negative regulation of cell migration involved in sprouting angiogenesis; IDA:UniProtKB. # GO_process GO:0090314 positive regulation of protein targeting to membrane; ISS:UniProtKB. # GO_process GO:0090315 negative regulation of protein targeting to membrane; IDA:UniProtKB. # GO_process GO:1900025 negative regulation of substrate adhesion-dependent cell spreading; IDA:UniProtKB. # GO_process GO:2001044 regulation of integrin-mediated signaling pathway; ISS:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005829 cytosol # GOslim_component GO:0005856 cytoskeleton # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0008565 protein transporter activity # GOslim_function GO:0030234 enzyme regulator activity # GOslim_process GO:0003013 circulatory system process # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # GOslim_process GO:0007155 cell adhesion # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0008283 cell proliferation # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0030154 cell differentiation # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0048646 anatomical structure formation involved in morphogenesis # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0048870 cell motility # GOslim_process GO:0061024 membrane organization # Gene3D 2.30.29.30 -; 1. # Genevisible O14713 HS # HGNC HGNC:23927 ITGB1BP1 # INTERACTION ITBP1_HUMAN Q6PIW4 FIGNL1; NbExp=3; IntAct=EBI-2127319, EBI-8468390; P22392 NME2; NbExp=7; IntAct=EBI-2127367, EBI-713693; # IntAct O14713 10 # InterPro IPR006020 PTB/PI_dom # InterPro IPR011993 PH_dom-like # InterPro IPR019517 Integrin-bd_ICAP-1 # MIM 607153 gene # Organism ITBP1_HUMAN Homo sapiens (Human) # PDB 1K11 Model; -; A=58-196 # PDB 4DX8 X-ray; 2.54 A; A/B/D/E=49-200 # PDB 4DX9 X-ray; 2.99 A; 0/1/2/3/4/5/A/C/E/G/I/K/M/O/Q/S/U/W/Y/a/c/e/g/i/k/m/o/q/s/u=49-200 # PDB 4JIF X-ray; 1.70 A; A=49-200 # PTM ITBP1_HUMAN Phosphorylation at Thr-38 seems to enhance integrin alpha5beta1-mediated cell adhesion. The degree of phosphorylation is regulated by integrin-dependent cell-matrix interaction. {ECO 0000269|PubMed 9281591, ECO 0000269|PubMed 9813144, ECO 0000269|PubMed 9867804}. # Pfam PF10480 ICAP-1_inte_bdg # Proteomes UP000005640 Chromosome 2 # RecName ITBP1_HUMAN Integrin beta-1-binding protein 1 # RefSeq NP_001305995 NM_001319066.1. [O14713-1] # RefSeq NP_001305996 NM_001319067.1. [O14713-1] # RefSeq NP_001305997 NM_001319068.1. [O14713-1] # RefSeq NP_004754 NM_004763.4. [O14713-1] # RefSeq NP_071729 NM_022334.4. [O14713-2] # RefSeq XP_005246240 XM_005246183.4. [O14713-1] # RefSeq XP_005246241 XM_005246184.4. [O14713-1] # RefSeq XP_005246242 XM_005246185.4. [O14713-1] # RefSeq XP_005246246 XM_005246189.4. [O14713-2] # RefSeq XP_006711966 XM_006711903.3. [O14713-1] # RefSeq XP_011508718 XM_011510416.2. [O14713-1] # RefSeq XP_016860756 XM_017005267.1. [O14713-1] # RefSeq XP_016860757 XM_017005268.1. [O14713-1] # RefSeq XP_016860758 XM_017005269.1. [O14713-2] # RefSeq XP_016860759 XM_017005270.1. [O14713-2] # SIMILARITY Contains 1 PID domain. {ECO 0000305}. # SMART SM00462 PTB # SUBCELLULAR LOCATION ITBP1_HUMAN Nucleus. Cytoplasm. Cytoplasm, cytoskeleton {ECO 0000250}. Cell membrane {ECO 0000250}. Cell projection, lamellipodium. Cell projection, ruffle. Note=Nucleocytoplasmic shuttling protein; shuttles between nucleus and cytoplasm in a integrin-dependent manner; probably sequestered in the cytosol by ITGB1. Its localization is dependent on the stage of cell spreading on fibronectin; cytoplasmic in case of round cells, corresponding to the initial step of cell spreading, or nuclear in case of well spread cells. Colocalizes with ROCK1 and NME2 at beta-1 integrin engagement sites. Together with ITGB1 and NME2 is recruited to beta-1 integrin-rich peripheral ruffles and lamellipodia during initial cell spreading on fibronectin and/or collagen. # SUBUNIT ITBP1_HUMAN Interacts (via N-terminus and PTB domain) with ROCK1 (By similarity). Found in a complex, at least composed of ITGB1BP1, KRIT1 and RAP1A. Interacts (via C-terminal region) with ITGB1 (via C-terminal cytoplasmic tail); the interaction prevents talin TLN1 binding to ITGB1 and KRIT1 and ITGB1 compete for the same binding site. Interacts with KRIT1 (via N-terminal NPXY motif); the interaction induces the opening conformation of KRIT1 and KRIT1 and ITGB1 compete for the same binding site. Isoform 2 does not interact with ITGB1. Interacts with CDC42 (GTP- or GDP-bound form); the interaction is increased with the CDC42-membrane bound forms and prevents both CDC42 activation and cell spreading. Interacts (via C-terminal domain region) with NME2. Interacts with FERMT2 and RAC1. {ECO 0000250, ECO 0000269|PubMed 11741838, ECO 0000269|PubMed 11741908, ECO 0000269|PubMed 11807099, ECO 0000269|PubMed 11854171, ECO 0000269|PubMed 11919189, ECO 0000269|PubMed 12473654, ECO 0000269|PubMed 17916086, ECO 0000269|PubMed 21768292, ECO 0000269|PubMed 9281591, ECO 0000269|PubMed 9867804, ECO 0000269|Ref.19}. # SUPFAM SSF50729 SSF50729 # TISSUE SPECIFICITY ITBP1_HUMAN Expressed in endothelial cells and fibroblasts (at protein level). Ubiquitously expressed. Expressed in intestine, colon, testis, ovary, thymus, spleen and prostate. {ECO 0000269|PubMed 9281591, ECO 0000269|PubMed 9867804}. # UCSC uc002qzj human. [O14713-1] # eggNOG ENOG410IFN6 Eukaryota # eggNOG ENOG4111GWT LUCA BLAST swissprot:ITBP1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ITBP1_HUMAN BioCyc ZFISH:ENSG00000119185-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000119185-MONOMER COXPRESdb 9270 http://coxpresdb.jp/data/gene/9270.shtml CleanEx HS_ITGB1BP1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ITGB1BP1 DOI 10.1006/bbrc.1998.9592 http://dx.doi.org/10.1006/bbrc.1998.9592 DOI 10.1016/j.molcel.2012.12.005 http://dx.doi.org/10.1016/j.molcel.2012.12.005 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1074/jbc.274.1.11 http://dx.doi.org/10.1074/jbc.274.1.11 DOI 10.1074/jbc.M109031200 http://dx.doi.org/10.1074/jbc.M109031200 DOI 10.1074/jbc.M200200200 http://dx.doi.org/10.1074/jbc.M200200200 DOI 10.1074/jbc.M211258200 http://dx.doi.org/10.1074/jbc.M211258200 DOI 10.1083/jcb.138.5.1149 http://dx.doi.org/10.1083/jcb.138.5.1149 DOI 10.1083/jcb.200108030 http://dx.doi.org/10.1083/jcb.200108030 DOI 10.1083/jcb.201007108 http://dx.doi.org/10.1083/jcb.201007108 DOI 10.1091/mbc.E04-08-0744 http://dx.doi.org/10.1091/mbc.E04-08-0744 DOI 10.1093/hmg/10.25.2953 http://dx.doi.org/10.1093/hmg/10.25.2953 DOI 10.1093/hmg/11.4.389 http://dx.doi.org/10.1093/hmg/11.4.389 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1742-4658.2007.06068.x http://dx.doi.org/10.1111/j.1742-4658.2007.06068.x DOI 10.1161/CIRCRESAHA.110.217257 http://dx.doi.org/10.1161/CIRCRESAHA.110.217257 DOI 10.1186/gb-2004-5-2-r8 http://dx.doi.org/10.1186/gb-2004-5-2-r8 EMBL AC080162 http://www.ebi.ac.uk/ena/data/view/AC080162 EMBL AF012023 http://www.ebi.ac.uk/ena/data/view/AF012023 EMBL AF012024 http://www.ebi.ac.uk/ena/data/view/AF012024 EMBL BC012264 http://www.ebi.ac.uk/ena/data/view/BC012264 EMBL CH471053 http://www.ebi.ac.uk/ena/data/view/CH471053 EMBL CH471053 http://www.ebi.ac.uk/ena/data/view/CH471053 EMBL CH471053 http://www.ebi.ac.uk/ena/data/view/CH471053 EMBL CH471053 http://www.ebi.ac.uk/ena/data/view/CH471053 EMBL CH471053 http://www.ebi.ac.uk/ena/data/view/CH471053 EMBL CH471053 http://www.ebi.ac.uk/ena/data/view/CH471053 Ensembl ENST00000238091 http://www.ensembl.org/id/ENST00000238091 Ensembl ENST00000355346 http://www.ensembl.org/id/ENST00000355346 Ensembl ENST00000360635 http://www.ensembl.org/id/ENST00000360635 Ensembl ENST00000488451 http://www.ensembl.org/id/ENST00000488451 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0001726 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001726 GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0005856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005856 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0030027 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030027 GO_component GO:0048471 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048471 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_component GO:0071944 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071944 GO_function GO:0005092 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005092 GO_function GO:0005178 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005178 GO_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GO_function GO:0032403 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032403 GO_process GO:0002043 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002043 GO_process GO:0006351 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006351 GO_process GO:0006469 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006469 GO_process GO:0006933 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006933 GO_process GO:0007160 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007160 GO_process GO:0007219 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007219 GO_process GO:0007229 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007229 GO_process GO:0008284 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008284 GO_process GO:0008285 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008285 GO_process GO:0010595 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010595 GO_process GO:0010764 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010764 GO_process GO:0015031 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015031 GO_process GO:0016477 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016477 GO_process GO:0030154 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030154 GO_process GO:0031214 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031214 GO_process GO:0032091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032091 GO_process GO:0032148 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032148 GO_process GO:0033622 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033622 GO_process GO:0033628 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033628 GO_process GO:0035148 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035148 GO_process GO:0035556 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035556 GO_process GO:0035924 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035924 GO_process GO:0043087 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043087 GO_process GO:0043113 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043113 GO_process GO:0044344 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044344 GO_process GO:0045747 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045747 GO_process GO:0045944 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045944 GO_process GO:0050880 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050880 GO_process GO:0051451 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051451 GO_process GO:0051496 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051496 GO_process GO:0051781 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051781 GO_process GO:0051894 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051894 GO_process GO:0051895 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051895 GO_process GO:0051897 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051897 GO_process GO:0070373 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070373 GO_process GO:0090051 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090051 GO_process GO:0090314 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090314 GO_process GO:0090315 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090315 GO_process GO:1900025 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1900025 GO_process GO:2001044 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2001044 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0005856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005856 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_function GO:0030234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030234 GOslim_process GO:0003013 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003013 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007155 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007155 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0008283 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008283 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0030154 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030154 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0048646 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048646 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0048870 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048870 GOslim_process GO:0061024 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061024 Gene3D 2.30.29.30 http://www.cathdb.info/version/latest/superfamily/2.30.29.30 GeneCards ITGB1BP1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ITGB1BP1 GeneID 9270 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=9270 GeneTree ENSGT00390000003990 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000003990 HGNC HGNC:23927 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:23927 HOGENOM HOG000015089 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000015089&db=HOGENOM6 HOVERGEN HBG052155 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052155&db=HOVERGEN InParanoid O14713 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O14713 IntAct O14713 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O14713* InterPro IPR006020 http://www.ebi.ac.uk/interpro/entry/IPR006020 InterPro IPR011993 http://www.ebi.ac.uk/interpro/entry/IPR011993 InterPro IPR019517 http://www.ebi.ac.uk/interpro/entry/IPR019517 Jabion 9270 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=9270 KEGG_Gene hsa:9270 http://www.genome.jp/dbget-bin/www_bget?hsa:9270 MIM 607153 http://www.ncbi.nlm.nih.gov/omim/607153 OMA RMLCYDD http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=RMLCYDD OrthoDB EOG091G16AY http://cegg.unige.ch/orthodb/results?searchtext=EOG091G16AY PDB 1K11 http://www.ebi.ac.uk/pdbe-srv/view/entry/1K11 PDB 4DX8 http://www.ebi.ac.uk/pdbe-srv/view/entry/4DX8 PDB 4DX9 http://www.ebi.ac.uk/pdbe-srv/view/entry/4DX9 PDB 4JIF http://www.ebi.ac.uk/pdbe-srv/view/entry/4JIF PDBsum 1K11 http://www.ebi.ac.uk/pdbsum/1K11 PDBsum 4DX8 http://www.ebi.ac.uk/pdbsum/4DX8 PDBsum 4DX9 http://www.ebi.ac.uk/pdbsum/4DX9 PDBsum 4JIF http://www.ebi.ac.uk/pdbsum/4JIF PSORT swissprot:ITBP1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ITBP1_HUMAN PSORT-B swissprot:ITBP1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ITBP1_HUMAN PSORT2 swissprot:ITBP1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ITBP1_HUMAN Pfam PF10480 http://pfam.xfam.org/family/PF10480 PharmGKB PA134913590 http://www.pharmgkb.org/do/serve?objId=PA134913590&objCls=Gene Phobius swissprot:ITBP1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ITBP1_HUMAN PhylomeDB O14713 http://phylomedb.org/?seqid=O14713 ProteinModelPortal O14713 http://www.proteinmodelportal.org/query/uniprot/O14713 PubMed 11741838 http://www.ncbi.nlm.nih.gov/pubmed/11741838 PubMed 11741908 http://www.ncbi.nlm.nih.gov/pubmed/11741908 PubMed 11807099 http://www.ncbi.nlm.nih.gov/pubmed/11807099 PubMed 11854171 http://www.ncbi.nlm.nih.gov/pubmed/11854171 PubMed 11919189 http://www.ncbi.nlm.nih.gov/pubmed/11919189 PubMed 12473654 http://www.ncbi.nlm.nih.gov/pubmed/12473654 PubMed 14759258 http://www.ncbi.nlm.nih.gov/pubmed/14759258 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15703214 http://www.ncbi.nlm.nih.gov/pubmed/15703214 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 PubMed 17916086 http://www.ncbi.nlm.nih.gov/pubmed/17916086 PubMed 20616313 http://www.ncbi.nlm.nih.gov/pubmed/20616313 PubMed 21768292 http://www.ncbi.nlm.nih.gov/pubmed/21768292 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 9281591 http://www.ncbi.nlm.nih.gov/pubmed/9281591 PubMed 9813144 http://www.ncbi.nlm.nih.gov/pubmed/9813144 PubMed 9867804 http://www.ncbi.nlm.nih.gov/pubmed/9867804 RefSeq NP_001305995 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001305995 RefSeq NP_001305996 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001305996 RefSeq NP_001305997 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001305997 RefSeq NP_004754 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004754 RefSeq NP_071729 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_071729 RefSeq XP_005246240 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005246240 RefSeq XP_005246241 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005246241 RefSeq XP_005246242 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005246242 RefSeq XP_005246246 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005246246 RefSeq XP_006711966 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006711966 RefSeq XP_011508718 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011508718 RefSeq XP_016860756 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016860756 RefSeq XP_016860757 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016860757 RefSeq XP_016860758 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016860758 RefSeq XP_016860759 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016860759 SMART SM00462 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00462 SMR O14713 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=O14713 STRING 9606.ENSP00000347504 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000347504&targetmode=cogs SUPFAM SSF50729 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF50729 UCSC uc002qzj http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002qzj&org=rat UniGene Hs.467662 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.467662 UniProtKB ITBP1_HUMAN http://www.uniprot.org/uniprot/ITBP1_HUMAN UniProtKB-AC O14713 http://www.uniprot.org/uniprot/O14713 charge swissprot:ITBP1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ITBP1_HUMAN eggNOG ENOG410IFN6 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IFN6 eggNOG ENOG4111GWT http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111GWT epestfind swissprot:ITBP1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ITBP1_HUMAN garnier swissprot:ITBP1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ITBP1_HUMAN helixturnhelix swissprot:ITBP1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ITBP1_HUMAN hmoment swissprot:ITBP1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ITBP1_HUMAN iep swissprot:ITBP1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ITBP1_HUMAN inforesidue swissprot:ITBP1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ITBP1_HUMAN neXtProt NX_O14713 http://www.nextprot.org/db/entry/NX_O14713 octanol swissprot:ITBP1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ITBP1_HUMAN pepcoil swissprot:ITBP1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ITBP1_HUMAN pepdigest swissprot:ITBP1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ITBP1_HUMAN pepinfo swissprot:ITBP1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ITBP1_HUMAN pepnet swissprot:ITBP1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ITBP1_HUMAN pepstats swissprot:ITBP1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ITBP1_HUMAN pepwheel swissprot:ITBP1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ITBP1_HUMAN pepwindow swissprot:ITBP1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ITBP1_HUMAN sigcleave swissprot:ITBP1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ITBP1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS LAAT1_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q6ZP29-1; Sequence=Displayed; Name=2; IsoId=Q6ZP29-2; Sequence=VSP_024151; Name=3; IsoId=Q6ZP29-3; Sequence=VSP_024152; # AltName LAAT1_HUMAN PQ-loop repeat-containing protein 2 # CCDS CCDS195 -. [Q6ZP29-1] # CCDS CCDS30618 -. [Q6ZP29-3] # ChiTaRS PQLC2 human # DOMAIN LAAT1_HUMAN The di-leucine motif mediates lysosomal localization. {ECO 0000269|PubMed 22822152}. # Ensembl ENST00000375153 ENSP00000364295; ENSG00000040487. [Q6ZP29-1] # Ensembl ENST00000375155 ENSP00000364297; ENSG00000040487. [Q6ZP29-1] # Ensembl ENST00000400548 ENSP00000383395; ENSG00000040487. [Q6ZP29-3] # ExpressionAtlas Q6ZP29 baseline and differential # FUNCTION LAAT1_HUMAN Amino acid transporter that specifically mediates the pH-dependent export of the cationic amino acids arginine, histidine and lysine from lysosomes. {ECO 0000269|PubMed 22822152, ECO 0000269|PubMed 23169667}. # GO_component GO:0005765 lysosomal membrane; IDA:UniProtKB. # GO_component GO:0031301 integral component of organelle membrane; IDA:UniProtKB. # GO_component GO:0043231 intracellular membrane-bounded organelle; IDA:HPA. # GO_function GO:0015174 basic amino acid transmembrane transporter activity; ISS:UniProtKB. # GO_function GO:0015181 arginine transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0015189 L-lysine transmembrane transporter activity; IDA:UniProtKB. # GO_process GO:0015809 arginine transport; IDA:UniProtKB. # GO_process GO:0015819 lysine transport; IDA:UniProtKB. # GO_process GO:0080144 amino acid homeostasis; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0043226 organelle # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0042592 homeostatic process # Genevisible Q6ZP29 HS # HGNC HGNC:26001 PQLC2 # InterPro IPR006603 PQ-loop_rpt # MIM 614760 gene # MISCELLANEOUS May play a role in the export from lysosomes of cysteamine-cysteine mixed disulfide (MxD), the product formed upon treatment by cysteamine of patients with cystinosis, a disease characterized by the accumulation of cysteine in the lysosomes. {ECO:0000305|PubMed 23169667}. # Organism LAAT1_HUMAN Homo sapiens (Human) # Pfam PF04193 PQ-loop; 2 # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-5223345 Miscellaneous transport and binding events # RecName LAAT1_HUMAN Lysosomal amino acid transporter 1 homolog # RefSeq NP_001035214 NM_001040125.1. [Q6ZP29-1] # RefSeq NP_001035215 NM_001040126.1. [Q6ZP29-3] # RefSeq NP_001274460 NM_001287531.1. [Q6ZP29-2] # RefSeq NP_060235 NM_017765.2. [Q6ZP29-1] # RefSeq XP_005245973 XM_005245916.2. [Q6ZP29-1] # RefSeq XP_006710773 XM_006710710.2. [Q6ZP29-2] # RefSeq XP_006710774 XM_006710711.2. [Q6ZP29-2] # SEQUENCE CAUTION Sequence=BAA91088.1; Type=Frameshift; Positions=26; Evidence={ECO 0000305}; # SIMILARITY Belongs to the laat-1 family. {ECO 0000305}. # SIMILARITY Contains 2 PQ-loop domains. {ECO 0000305}. # SMART SM00679 CTNS; 2 # SUBCELLULAR LOCATION LAAT1_HUMAN Lysosome membrane {ECO 0000269|PubMed 22822152}; Multi-pass membrane protein {ECO 0000269|PubMed 22822152}. # TCDB 2.A.43.2 the lysosomal cystine transporter (lct) family # UCSC uc001bby human. [Q6ZP29-1] # eggNOG ENOG4111FM2 LUCA # eggNOG KOG2913 Eukaryota BLAST swissprot:LAAT1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:LAAT1_HUMAN COXPRESdb 54896 http://coxpresdb.jp/data/gene/54896.shtml CleanEx HS_PQLC2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_PQLC2 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.1211198109 http://dx.doi.org/10.1073/pnas.1211198109 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1220281 http://dx.doi.org/10.1126/science.1220281 EMBL AK000327 http://www.ebi.ac.uk/ena/data/view/AK000327 EMBL AK125580 http://www.ebi.ac.uk/ena/data/view/AK125580 EMBL AK130171 http://www.ebi.ac.uk/ena/data/view/AK130171 EMBL AK130175 http://www.ebi.ac.uk/ena/data/view/AK130175 EMBL AK172745 http://www.ebi.ac.uk/ena/data/view/AK172745 EMBL AL035413 http://www.ebi.ac.uk/ena/data/view/AL035413 EMBL AL035413 http://www.ebi.ac.uk/ena/data/view/AL035413 EMBL BC015324 http://www.ebi.ac.uk/ena/data/view/BC015324 Ensembl ENST00000375153 http://www.ensembl.org/id/ENST00000375153 Ensembl ENST00000375155 http://www.ensembl.org/id/ENST00000375155 Ensembl ENST00000400548 http://www.ensembl.org/id/ENST00000400548 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005765 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005765 GO_component GO:0031301 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031301 GO_component GO:0043231 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043231 GO_function GO:0015174 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015174 GO_function GO:0015181 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015181 GO_function GO:0015189 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015189 GO_process GO:0015809 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015809 GO_process GO:0015819 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015819 GO_process GO:0080144 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0080144 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GeneCards PQLC2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=PQLC2 GeneID 54896 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=54896 GeneTree ENSGT00390000003344 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000003344 HGNC HGNC:26001 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:26001 HOGENOM HOG000293428 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000293428&db=HOGENOM6 HOVERGEN HBG061486 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG061486&db=HOVERGEN HPA HPA057810 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA057810 InParanoid Q6ZP29 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q6ZP29 InterPro IPR006603 http://www.ebi.ac.uk/interpro/entry/IPR006603 Jabion 54896 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=54896 KEGG_Gene hsa:54896 http://www.genome.jp/dbget-bin/www_bget?hsa:54896 MIM 614760 http://www.ncbi.nlm.nih.gov/omim/614760 OMA GNTMYGL http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=GNTMYGL OrthoDB EOG091G0C7E http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0C7E PSORT swissprot:LAAT1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:LAAT1_HUMAN PSORT-B swissprot:LAAT1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:LAAT1_HUMAN PSORT2 swissprot:LAAT1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:LAAT1_HUMAN Pfam PF04193 http://pfam.xfam.org/family/PF04193 PharmGKB PA134879718 http://www.pharmgkb.org/do/serve?objId=PA134879718&objCls=Gene Phobius swissprot:LAAT1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:LAAT1_HUMAN PhylomeDB Q6ZP29 http://phylomedb.org/?seqid=Q6ZP29 ProteinModelPortal Q6ZP29 http://www.proteinmodelportal.org/query/uniprot/Q6ZP29 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 22822152 http://www.ncbi.nlm.nih.gov/pubmed/22822152 PubMed 23169667 http://www.ncbi.nlm.nih.gov/pubmed/23169667 Reactome R-HSA-5223345 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5223345 RefSeq NP_001035214 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001035214 RefSeq NP_001035215 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001035215 RefSeq NP_001274460 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001274460 RefSeq NP_060235 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_060235 RefSeq XP_005245973 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005245973 RefSeq XP_006710773 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006710773 RefSeq XP_006710774 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006710774 SMART SM00679 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00679 STRING 9606.ENSP00000364295 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000364295&targetmode=cogs TCDB 2.A.43.2 http://www.tcdb.org/search/result.php?tc=2.A.43.2 UCSC uc001bby http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001bby&org=rat UniGene Hs.647620 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.647620 UniProtKB LAAT1_HUMAN http://www.uniprot.org/uniprot/LAAT1_HUMAN UniProtKB-AC Q6ZP29 http://www.uniprot.org/uniprot/Q6ZP29 charge swissprot:LAAT1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:LAAT1_HUMAN eggNOG ENOG4111FM2 http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111FM2 eggNOG KOG2913 http://eggnogapi.embl.de/nog_data/html/tree/KOG2913 epestfind swissprot:LAAT1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:LAAT1_HUMAN garnier swissprot:LAAT1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:LAAT1_HUMAN helixturnhelix swissprot:LAAT1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:LAAT1_HUMAN hmoment swissprot:LAAT1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:LAAT1_HUMAN iep swissprot:LAAT1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:LAAT1_HUMAN inforesidue swissprot:LAAT1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:LAAT1_HUMAN neXtProt NX_Q6ZP29 http://www.nextprot.org/db/entry/NX_Q6ZP29 octanol swissprot:LAAT1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:LAAT1_HUMAN pepcoil swissprot:LAAT1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:LAAT1_HUMAN pepdigest swissprot:LAAT1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:LAAT1_HUMAN pepinfo swissprot:LAAT1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:LAAT1_HUMAN pepnet swissprot:LAAT1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:LAAT1_HUMAN pepstats swissprot:LAAT1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:LAAT1_HUMAN pepwheel swissprot:LAAT1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:LAAT1_HUMAN pepwindow swissprot:LAAT1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:LAAT1_HUMAN sigcleave swissprot:LAAT1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:LAAT1_HUMAN ## Database ID URL or Descriptions # AltName KCNB2_HUMAN Voltage-gated potassium channel subunit Kv2.2 # BIOPHYSICOCHEMICAL PROPERTIES KCNB2_HUMAN Kinetic parameters Note=Homotetrameric channels expressed in xenopus oocytes or in mammalian non-neuronal cells display delayed-rectifier voltage- dependent potassium currents which are activated during membrane depolarization, i.e within a risetime of about 20 msec. After that, inactivate very slowly. Their activation requires low threshold potentials of about -20 to -30 mV, with a midpoint activation at about 10 mV. For inactivation, the voltage at half-maximal amplitude is about -30 mV. Channels have an unitary conductance of about 14 pS. The voltage-dependence of activation and inactivation and other channel characteristics vary depending on the experimental conditions, the expression system and post-translational modifications. {ECO 0000250|UniProtKB Q63099, ECO 0000305|PubMed 10414301}; # BioGrid 114724 6 # DOMAIN KCNB2_HUMAN The transmembrane segment S4 functions as voltage-sensor and is characterized by a series of positively charged amino acids at every third position. Channel opening and closing is effected by a conformation change that affects the position and orientation of the voltage-sensor paddle formed by S3 and S4 within the membrane. A transmembrane electric field that is positive inside would push the positively charged S4 segment outwards, thereby opening the pore, while a field that is negative inside would pull the S4 segment inwards and close the pore. Changes in the position and orientation of S4 are then transmitted to the activation gate formed by the inner helix bundle via the S4-S5 linker region. {ECO 0000250|UniProtKB P63142}. # DrugBank DB06637 Dalfampridine # ENZYME REGULATION KCNB2_HUMAN Inhibited by quinine at micromolar levels. Modestly sensitive to millimolar levels of tetraethylammonium (TEA) and 4-aminopyridine (4-AP). {ECO 0000250|UniProtKB Q63099, ECO 0000250|UniProtKB Q95167, ECO 0000305|PubMed 10414301}. # Ensembl ENST00000523207 ENSP00000430846; ENSG00000182674 # FUNCTION KCNB2_HUMAN Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes, primarily in the brain and smooth muscle cells. Channels open or close in response to the voltage difference across the membrane, letting potassium ions pass in accordance with their electrochemical gradient. Homotetrameric channels mediate a delayed-rectifier voltage-dependent outward potassium current that display rapid activation and slow inactivation in response to membrane depolarization. Can form functional homotetrameric and heterotetrameric channels that contain variable proportions of KCNB1; channel properties depend on the type of alpha subunits that are part of the channel. Can also form functional heterotetrameric channels with other alpha subunits that are non- conducting when expressed alone, such as KCNS1 and KCNS2, creating a functionally diverse range of channel complexes. In vivo, membranes probably contain a mixture of heteromeric potassium channel complexes, making it difficult to assign currents observed in intact tissues to any particular potassium channel family member. Contributes to the delayed-rectifier voltage-gated potassium current in cortical pyramidal neurons and smooth muscle cells. {ECO 0000250|UniProtKB A6H8H5, ECO 0000250|UniProtKB Q63099}. # GO_component GO:0005622 intracellular; IEA:GOC. # GO_component GO:0005886 plasma membrane; ISS:UniProtKB. # GO_component GO:0008076 voltage-gated potassium channel complex; ISS:UniProtKB. # GO_component GO:0030425 dendrite; ISS:UniProtKB. # GO_component GO:0032809 neuronal cell body membrane; ISS:UniProtKB. # GO_component GO:0043204 perikaryon; IEA:UniProtKB-SubCell. # GO_function GO:0005251 delayed rectifier potassium channel activity; ISS:UniProtKB. # GO_function GO:0046982 protein heterodimerization activity; ISS:UniProtKB. # GO_process GO:0006813 potassium ion transport; ISS:UniProtKB. # GO_process GO:0006940 regulation of smooth muscle contraction; TAS:ProtInc. # GO_process GO:0051260 protein homooligomerization; IEA:InterPro. # GO_process GO:0071805 potassium ion transmembrane transport; ISS:UniProtKB. # GO_process GO:0072661 protein targeting to plasma membrane; ISS:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005622 intracellular # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006605 protein targeting # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0016192 vesicle-mediated transport # GOslim_process GO:0055085 transmembrane transport # GOslim_process GO:0061024 membrane organization # Genevisible Q92953 HS # HGNC HGNC:6232 KCNB2 # InterPro IPR000210 BTB/POZ_dom # InterPro IPR003131 T1-type_BTB # InterPro IPR003968 K_chnl_volt-dep_Kv # InterPro IPR003973 K_chnl_volt-dep_Kv2 # InterPro IPR005821 Ion_trans_dom # InterPro IPR005826 K_chnl_volt-dep_Kv2.2 # InterPro IPR011333 SKP1/BTB/POZ # InterPro IPR028325 VG_K_chnl # KEGG_Brite ko04040 Ion channels # MIM 607738 gene # Organism KCNB2_HUMAN Homo sapiens (Human) # PANTHER PTHR11537 PTHR11537 # PRINTS PR00169 KCHANNEL # PRINTS PR01491 KVCHANNEL # PRINTS PR01495 SHABCHANNEL # PRINTS PR01515 KV22CHANNEL # PTM KCNB2_HUMAN Phosphorylated. {ECO 0000250|UniProtKB Q63099}. # Pfam PF00520 Ion_trans # Pfam PF02214 BTB_2 # Pfam PF03521 Kv2channel # Proteomes UP000005640 Chromosome 8 # Reactome R-HSA-1296072 Voltage gated Potassium channels # RecName Potassium voltage-gated channel subfamily B member 2 {ECO:0000312|HGNC HGNC:6232} # RefSeq NP_004761 NM_004770.2 # SEQUENCE CAUTION Sequence=AAB08433.1; Type=Frameshift; Positions=768; Evidence={ECO 0000305}; # SIMILARITY Belongs to the potassium channel family. B (Shab) (TC 1.A.1.2) subfamily. Kv2.2/KCNB2 sub-subfamily. {ECO 0000305}. # SMART SM00225 BTB # SUBCELLULAR LOCATION KCNB2_HUMAN Cell membrane {ECO 0000250|UniProtKB Q63099}; Multi-pass membrane protein {ECO 0000250|UniProtKB Q63099}. Perikaryon {ECO 0000250|UniProtKB Q63099}. Cell projection, dendrite {ECO 0000250|UniProtKB Q63099}. Note=Localized uniformly throughout cell bodies and dendrites. Colocalizes with KCNB1 to high-density somatodendritic clusters on cortical pyramidal neurons. {ECO 0000250|UniProtKB Q63099}. # SUBUNIT Homotetramer or heterotetramer with KCNB1. Heterotetramer with KCNS1 and KCNS2. {ECO:0000250|UniProtKB Q63099}. # SUPFAM SSF54695 SSF54695 # UCSC uc003xzb human # eggNOG COG1226 LUCA # eggNOG KOG3713 Eukaryota BLAST swissprot:KCNB2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCNB2_HUMAN BioCyc ZFISH:G66-31681-MONOMER http://biocyc.org/getid?id=ZFISH:G66-31681-MONOMER COXPRESdb 9312 http://coxpresdb.jp/data/gene/9312.shtml CleanEx HS_KCNB2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNB2 DOI 10.1111/j.1749-6632.1999.tb11293.x http://dx.doi.org/10.1111/j.1749-6632.1999.tb11293.x DOI 10.1126/science.1133427 http://dx.doi.org/10.1126/science.1133427 DrugBank DB06637 http://www.drugbank.ca/drugs/DB06637 EMBL AF338730 http://www.ebi.ac.uk/ena/data/view/AF338730 EMBL AF450111 http://www.ebi.ac.uk/ena/data/view/AF450111 EMBL U69962 http://www.ebi.ac.uk/ena/data/view/U69962 Ensembl ENST00000523207 http://www.ensembl.org/id/ENST00000523207 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005622 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005622 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0008076 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008076 GO_component GO:0030425 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030425 GO_component GO:0032809 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032809 GO_component GO:0043204 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043204 GO_function GO:0005251 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005251 GO_function GO:0046982 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046982 GO_process GO:0006813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006813 GO_process GO:0006940 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006940 GO_process GO:0051260 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051260 GO_process GO:0071805 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071805 GO_process GO:0072661 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0072661 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005622 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005622 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006605 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006605 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0016192 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016192 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GOslim_process GO:0061024 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061024 GeneCards KCNB2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNB2 GeneID 9312 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=9312 GeneTree ENSGT00760000118981 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118981 HGNC HGNC:6232 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6232 HOGENOM HOG000113206 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000113206&db=HOGENOM6 HOVERGEN HBG052225 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052225&db=HOVERGEN InParanoid Q92953 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q92953 IntAct Q92953 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q92953* InterPro IPR000210 http://www.ebi.ac.uk/interpro/entry/IPR000210 InterPro IPR003131 http://www.ebi.ac.uk/interpro/entry/IPR003131 InterPro IPR003968 http://www.ebi.ac.uk/interpro/entry/IPR003968 InterPro IPR003973 http://www.ebi.ac.uk/interpro/entry/IPR003973 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR005826 http://www.ebi.ac.uk/interpro/entry/IPR005826 InterPro IPR011333 http://www.ebi.ac.uk/interpro/entry/IPR011333 InterPro IPR028325 http://www.ebi.ac.uk/interpro/entry/IPR028325 Jabion 9312 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=9312 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:9312 http://www.genome.jp/dbget-bin/www_bget?hsa:9312 KEGG_Orthology KO:K04886 http://www.genome.jp/dbget-bin/www_bget?KO:K04886 MIM 607738 http://www.ncbi.nlm.nih.gov/omim/607738 OMA IHSNPGD http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=IHSNPGD OrthoDB EOG091G0FP3 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0FP3 PANTHER PTHR11537 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11537 PRINTS PR00169 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00169 PRINTS PR01491 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01491 PRINTS PR01495 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01495 PRINTS PR01515 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01515 PSORT swissprot:KCNB2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCNB2_HUMAN PSORT-B swissprot:KCNB2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCNB2_HUMAN PSORT2 swissprot:KCNB2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCNB2_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF02214 http://pfam.xfam.org/family/PF02214 Pfam PF03521 http://pfam.xfam.org/family/PF03521 PharmGKB PA30025 http://www.pharmgkb.org/do/serve?objId=PA30025&objCls=Gene Phobius swissprot:KCNB2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCNB2_HUMAN PhylomeDB Q92953 http://phylomedb.org/?seqid=Q92953 ProteinModelPortal Q92953 http://www.proteinmodelportal.org/query/uniprot/Q92953 PubMed 10414301 http://www.ncbi.nlm.nih.gov/pubmed/10414301 PubMed 16959974 http://www.ncbi.nlm.nih.gov/pubmed/16959974 PubMed 9612272 http://www.ncbi.nlm.nih.gov/pubmed/9612272 Reactome R-HSA-1296072 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1296072 RefSeq NP_004761 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004761 SMART SM00225 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00225 SMR Q92953 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q92953 STRING 9606.ENSP00000430846 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000430846&targetmode=cogs SUPFAM SSF54695 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF54695 UCSC uc003xzb http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003xzb&org=rat UniGene Hs.661102 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.661102 UniProtKB KCNB2_HUMAN http://www.uniprot.org/uniprot/KCNB2_HUMAN UniProtKB-AC Q92953 http://www.uniprot.org/uniprot/Q92953 charge swissprot:KCNB2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCNB2_HUMAN eggNOG COG1226 http://eggnogapi.embl.de/nog_data/html/tree/COG1226 eggNOG KOG3713 http://eggnogapi.embl.de/nog_data/html/tree/KOG3713 epestfind swissprot:KCNB2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCNB2_HUMAN garnier swissprot:KCNB2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCNB2_HUMAN helixturnhelix swissprot:KCNB2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCNB2_HUMAN hmoment swissprot:KCNB2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCNB2_HUMAN iep swissprot:KCNB2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCNB2_HUMAN inforesidue swissprot:KCNB2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCNB2_HUMAN neXtProt NX_Q92953 http://www.nextprot.org/db/entry/NX_Q92953 octanol swissprot:KCNB2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCNB2_HUMAN pepcoil swissprot:KCNB2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCNB2_HUMAN pepdigest swissprot:KCNB2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCNB2_HUMAN pepinfo swissprot:KCNB2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCNB2_HUMAN pepnet swissprot:KCNB2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCNB2_HUMAN pepstats swissprot:KCNB2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCNB2_HUMAN pepwheel swissprot:KCNB2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCNB2_HUMAN pepwindow swissprot:KCNB2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCNB2_HUMAN sigcleave swissprot:KCNB2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCNB2_HUMAN ## Database ID URL or Descriptions # AltName CCG8_HUMAN Neuronal voltage-gated calcium channel gamma-8 subunit # AltName CCG8_HUMAN Transmembrane AMPAR regulatory protein gamma-8 # ChiTaRS CACNG8 human # Ensembl ENST00000270458 ENSP00000270458; ENSG00000142408 # FUNCTION CCG8_HUMAN Regulates the trafficking and gating properties of AMPA- selective glutamate receptors (AMPARs). Promotes their targeting to the cell membrane and synapses and modulates their gating properties by slowing their rates of activation, deactivation and desensitization and by mediating their resensitization. Does not show subunit-specific AMPA receptor regulation and regulates all AMPAR subunits. Thought to stabilize the calcium channel in an inactivated (closed) state. {ECO 0000269|PubMed 20805473, ECO 0000269|PubMed 21172611}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005891 voltage-gated calcium channel complex; NAS:UniProtKB. # GO_component GO:0014069 postsynaptic density; ISS:UniProtKB. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0030666 endocytic vesicle membrane; TAS:Reactome. # GO_component GO:0032281 AMPA glutamate receptor complex; ISS:UniProtKB. # GO_component GO:0045211 postsynaptic membrane; IEA:UniProtKB-KW. # GO_function GO:0005245 voltage-gated calcium channel activity; NAS:UniProtKB. # GO_function GO:0016247 channel regulator activity; IBA:GO_Central. # GO_process GO:0006816 calcium ion transport; NAS:UniProtKB. # GO_process GO:0019226 transmission of nerve impulse; IBA:GO_Central. # GO_process GO:0061337 cardiac conduction; TAS:Reactome. # GO_process GO:0070588 calcium ion transmembrane transport; IBA:GO_Central. # GO_process GO:2000311 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0050877 neurological system process # GOslim_process GO:0055085 transmembrane transport # Genevisible Q8WXS5 HS # HGNC HGNC:13628 CACNG8 # InterPro IPR004031 PMP22/EMP/MP20/Claudin # InterPro IPR008368 VDCC_gsu # InterPro IPR008372 VDCC_g8su # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04010 MAPK signaling pathway # KEGG_Pathway ko04260 Cardiac muscle contraction # KEGG_Pathway ko05410 Hypertrophic cardiomyopathy (HCM) # KEGG_Pathway ko05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC) # KEGG_Pathway ko05414 Dilated cardiomyopathy # MIM 606900 gene # Organism CCG8_HUMAN Homo sapiens (Human) # PRINTS PR01792 VDCCGAMMA # PRINTS PR01796 VDCCGAMMA8 # Pfam PF00822 PMP22_Claudin # Proteomes UP000005640 Chromosome 19 # Reactome R-HSA-399719 Trafficking of AMPA receptors # Reactome R-HSA-5576892 Phase 0 - rapid depolarisation # Reactome R-HSA-5576893 Phase 2 - plateau phase # Reactome R-HSA-5576894 Phase 1 - inactivation of fast Na+ channels # Reactome R-HSA-5682910 LGI-ADAM interactions # RecName CCG8_HUMAN Voltage-dependent calcium channel gamma-8 subunit # RefSeq NP_114101 NM_031895.5 # SEQUENCE CAUTION Sequence=AAK15019.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part.; Evidence={ECO:0000305}; Sequence=AAL50049.1; Type=Frameshift; Positions=Several; Evidence={ECO 0000305}; # SIMILARITY Belongs to the PMP-22/EMP/MP20 family. CACNG subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION CCG8_HUMAN Membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO 0000250}. # SUBUNIT The L-type calcium channel is composed of five subunits: alpha-1, alpha-2/delta, beta and gamma. Acts as an auxiliary subunit for AMPA-selective glutamate receptors (AMPARs). Found in a complex with GRIA1, GRIA2, GRIA3, GRIA4, CNIH2, CNIH3, CACNG2, CACNG3, CACNG4, CACNG5 and CACNG7. Interacts with CNIH2 (By similarity). {ECO 0000250}. # TCDB 8.A.16.2 the ca(+) channel auxiliary subunit Gama1-Gama8 (ccaGama) family # UCSC uc061clu human # eggNOG ENOG410IJVW Eukaryota # eggNOG ENOG4110B1C LUCA BLAST swissprot:CCG8_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CCG8_HUMAN BioCyc ZFISH:ENSG00000142408-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000142408-MONOMER COXPRESdb 59283 http://coxpresdb.jp/data/gene/59283.shtml CleanEx HS_CACNG6 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CACNG6 CleanEx HS_CACNG8 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CACNG8 DOI 10.1006/geno.2000.6440 http://dx.doi.org/10.1006/geno.2000.6440 DOI 10.1016/S0378-1119(01)00738-7 http://dx.doi.org/10.1016/S0378-1119(01)00738-7 DOI 10.1016/j.neuron.2010.11.026 http://dx.doi.org/10.1016/j.neuron.2010.11.026 DOI 10.1038/nature02399 http://dx.doi.org/10.1038/nature02399 DOI 10.1073/pnas.1011706107 http://dx.doi.org/10.1073/pnas.1011706107 EMBL AC008440 http://www.ebi.ac.uk/ena/data/view/AC008440 EMBL AF234892 http://www.ebi.ac.uk/ena/data/view/AF234892 EMBL AF288388 http://www.ebi.ac.uk/ena/data/view/AF288388 EMBL AF361354 http://www.ebi.ac.uk/ena/data/view/AF361354 Ensembl ENST00000270458 http://www.ensembl.org/id/ENST00000270458 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005891 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005891 GO_component GO:0014069 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014069 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0030666 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030666 GO_component GO:0032281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032281 GO_component GO:0045211 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045211 GO_function GO:0005245 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005245 GO_function GO:0016247 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016247 GO_process GO:0006816 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006816 GO_process GO:0019226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019226 GO_process GO:0061337 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061337 GO_process GO:0070588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070588 GO_process GO:2000311 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000311 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards CACNG8 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CACNG8 GeneID 59283 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=59283 H-InvDB HIX0202898 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0202898 HGNC HGNC:13628 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:13628 HOGENOM HOG000233440 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000233440&db=HOGENOM6 HOVERGEN HBG003682 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG003682&db=HOVERGEN HPA HPA041351 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA041351 InParanoid Q8WXS5 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8WXS5 InterPro IPR004031 http://www.ebi.ac.uk/interpro/entry/IPR004031 InterPro IPR008368 http://www.ebi.ac.uk/interpro/entry/IPR008368 InterPro IPR008372 http://www.ebi.ac.uk/interpro/entry/IPR008372 Jabion 59283 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=59283 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:59283 http://www.genome.jp/dbget-bin/www_bget?hsa:59283 KEGG_Orthology KO:K04873 http://www.genome.jp/dbget-bin/www_bget?KO:K04873 KEGG_Pathway ko04010 http://www.genome.jp/kegg-bin/show_pathway?ko04010 KEGG_Pathway ko04260 http://www.genome.jp/kegg-bin/show_pathway?ko04260 KEGG_Pathway ko05410 http://www.genome.jp/kegg-bin/show_pathway?ko05410 KEGG_Pathway ko05412 http://www.genome.jp/kegg-bin/show_pathway?ko05412 KEGG_Pathway ko05414 http://www.genome.jp/kegg-bin/show_pathway?ko05414 MIM 606900 http://www.ncbi.nlm.nih.gov/omim/606900 OrthoDB EOG091G0D2Z http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0D2Z PRINTS PR01792 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01792 PRINTS PR01796 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01796 PSORT swissprot:CCG8_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CCG8_HUMAN PSORT-B swissprot:CCG8_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CCG8_HUMAN PSORT2 swissprot:CCG8_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CCG8_HUMAN Pfam PF00822 http://pfam.xfam.org/family/PF00822 PharmGKB PA26022 http://www.pharmgkb.org/do/serve?objId=PA26022&objCls=Gene Phobius swissprot:CCG8_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CCG8_HUMAN PhylomeDB Q8WXS5 http://phylomedb.org/?seqid=Q8WXS5 ProteinModelPortal Q8WXS5 http://www.proteinmodelportal.org/query/uniprot/Q8WXS5 PubMed 11170751 http://www.ncbi.nlm.nih.gov/pubmed/11170751 PubMed 11738816 http://www.ncbi.nlm.nih.gov/pubmed/11738816 PubMed 15057824 http://www.ncbi.nlm.nih.gov/pubmed/15057824 PubMed 20805473 http://www.ncbi.nlm.nih.gov/pubmed/20805473 PubMed 21172611 http://www.ncbi.nlm.nih.gov/pubmed/21172611 Reactome R-HSA-399719 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-399719 Reactome R-HSA-5576892 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576892 Reactome R-HSA-5576893 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576893 Reactome R-HSA-5576894 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576894 Reactome R-HSA-5682910 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5682910 RefSeq NP_114101 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_114101 STRING 9606.ENSP00000270458 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000270458&targetmode=cogs TCDB 8.A.16.2 http://www.tcdb.org/search/result.php?tc=8.A.16.2 UCSC uc061clu http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc061clu&org=rat UniGene Hs.631595 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.631595 UniProtKB CCG8_HUMAN http://www.uniprot.org/uniprot/CCG8_HUMAN UniProtKB-AC Q8WXS5 http://www.uniprot.org/uniprot/Q8WXS5 charge swissprot:CCG8_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CCG8_HUMAN eggNOG ENOG410IJVW http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IJVW eggNOG ENOG4110B1C http://eggnogapi.embl.de/nog_data/html/tree/ENOG4110B1C epestfind swissprot:CCG8_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CCG8_HUMAN garnier swissprot:CCG8_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CCG8_HUMAN helixturnhelix swissprot:CCG8_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CCG8_HUMAN hmoment swissprot:CCG8_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CCG8_HUMAN iep swissprot:CCG8_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CCG8_HUMAN inforesidue swissprot:CCG8_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CCG8_HUMAN neXtProt NX_Q8WXS5 http://www.nextprot.org/db/entry/NX_Q8WXS5 octanol swissprot:CCG8_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CCG8_HUMAN pepcoil swissprot:CCG8_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CCG8_HUMAN pepdigest swissprot:CCG8_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CCG8_HUMAN pepinfo swissprot:CCG8_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CCG8_HUMAN pepnet swissprot:CCG8_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CCG8_HUMAN pepstats swissprot:CCG8_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CCG8_HUMAN pepwheel swissprot:CCG8_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CCG8_HUMAN pepwindow swissprot:CCG8_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CCG8_HUMAN sigcleave swissprot:CCG8_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CCG8_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS ABCB9_HUMAN Event=Alternative splicing; Named isoforms=6; Name=1; Synonyms=12A, c1-l; IsoId=Q9NP78-1; Sequence=Displayed; Name=2; Synonyms=c1-s; IsoId=Q9NP78-2; Sequence=VSP_000027; Name=3; IsoId=Q9NP78-3; Sequence=VSP_000029, VSP_000030; Note=No experimental confirmation available.; Name=4; Synonyms=12B; IsoId=Q9NP78-5; Sequence=VSP_041884, VSP_041886; Name=5; Synonyms=12C; IsoId=Q9NP78-6; Sequence=VSP_041885; Name=6; IsoId=Q9NP78-7; Sequence=VSP_044884; Note=No experimental confirmation available.; # AltName ABCB9_HUMAN ATP-binding cassette transporter 9 # AltName ABCB9_HUMAN TAP-like protein # BIOPHYSICOCHEMICAL PROPERTIES ABCB9_HUMAN Kinetic parameters KM=6.8 uM for peptide RRYQNSTCL {ECO 0000269|PubMed 15863492}; pH dependence Optimum pH is 7.0. {ECO 0000269|PubMed 15863492}; Temperature dependence Optimum temperature is 37 degrees Celsius. {ECO 0000269|PubMed 15863492}; # BRENDA 3.6.3.43 2681 # BioGrid 117021 10 # CAUTION Has also been detected in the endoplasmic reticulum but appears to be a lysosomal protein in vivo. {ECO:0000305|PubMed 11011155}. # CCDS CCDS58286 -. [Q9NP78-7] # CCDS CCDS58287 -. [Q9NP78-6] # CCDS CCDS58288 -. [Q9NP78-5] # CCDS CCDS9241 -. [Q9NP78-1] # DOMAIN ABCB9_HUMAN The N-terminal region comprising the first four transmembrane domains is required for lysosomal localization but not for homodimerization or peptide transport. {ECO 0000269|PubMed 15577206, ECO 0000269|PubMed 18175933, ECO 0000269|PubMed 20377823}. # Ensembl ENST00000280560 ENSP00000280560; ENSG00000150967. [Q9NP78-1] # Ensembl ENST00000344275 ENSP00000456813; ENSG00000150967. [Q9NP78-6] # Ensembl ENST00000346530 ENSP00000280559; ENSG00000150967. [Q9NP78-2] # Ensembl ENST00000392439 ENSP00000376234; ENSG00000150967. [Q9NP78-1] # Ensembl ENST00000442833 ENSP00000456375; ENSG00000150967. [Q9NP78-5] # Ensembl ENST00000540285 ENSP00000441734; ENSG00000150967. [Q9NP78-7] # Ensembl ENST00000542678 ENSP00000440288; ENSG00000150967. [Q9NP78-1] # ExpressionAtlas Q9NP78 baseline and differential # FUNCTION ABCB9_HUMAN ATP-dependent low-affinity peptide transporter which translocates a broad spectrum of peptides from the cytosol to the lysosomal lumen. Displays a broad peptide length specificity from 6-mer up to at least 59-mer peptides with an optimum of 23-mers. Favors positively charged, aromatic or hydrophobic residues in the N- and C-terminal positions whereas negatively charged residues as well as asparagine and methionine are not favored. {ECO 0000269|PubMed 15863492, ECO 0000269|PubMed 17977821, ECO 0000269|PubMed 18434309}. # GO_component GO:0005764 lysosome; IDA:UniProtKB. # GO_component GO:0005765 lysosomal membrane; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; IDA:UniProtKB. # GO_component GO:0030176 integral component of endoplasmic reticulum membrane; IDA:UniProtKB. # GO_function GO:0005524 ATP binding; IDA:UniProtKB. # GO_function GO:0015421 oligopeptide-transporting ATPase activity; TAS:Reactome. # GO_function GO:0015440 peptide-transporting ATPase activity; IDA:UniProtKB. # GO_function GO:0022891 substrate-specific transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0042803 protein homodimerization activity; IDA:UniProtKB. # GO_process GO:0002481 antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent; IBA:GO_Central. # GO_process GO:0002485 antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent; IBA:GO_Central. # GO_process GO:0002489 antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent; IBA:GO_Central. # GO_process GO:0002591 positive regulation of antigen processing and presentation of peptide antigen via MHC class I; IBA:GO_Central. # GO_process GO:0015031 protein transport; IEA:UniProtKB-KW. # GO_process GO:0015833 peptide transport; IDA:UniProtKB. # GO_process GO:0055085 transmembrane transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005764 lysosome # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0002376 immune system process # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0055085 transmembrane transport # Gene3D 3.40.50.300 -; 1. # Genevisible Q9NP78 HS # HGNC HGNC:50 ABCB9 # INDUCTION Not induced by interferon-gamma. {ECO:0000269|PubMed 11011155}. # InterPro IPR003439 ABC_transporter-like # InterPro IPR003593 AAA+_ATPase # InterPro IPR011527 ABC1_TM_dom # InterPro IPR017871 ABC_transporter_CS # InterPro IPR027417 P-loop_NTPase # InterPro IPR030254 ABCB9 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02000 Transporters # KEGG_Pathway ko02010 ABC transporters # KEGG_Pathway ko04142 Lysosome # MIM 605453 gene # Organism ABCB9_HUMAN Homo sapiens (Human) # PANTHER PTHR24221:SF242 PTHR24221:SF242 # PROSITE PS00211 ABC_TRANSPORTER_1 # PROSITE PS50893 ABC_TRANSPORTER_2 # PROSITE PS50929 ABC_TM1F # Pfam PF00005 ABC_tran # Pfam PF00664 ABC_membrane # Proteomes UP000005640 Chromosome 12 # Reactome R-HSA-382556 ABC-family proteins mediated transport # RecName ABCB9_HUMAN ATP-binding cassette sub-family B member 9 # RefSeq NP_001229942 NM_001243013.1. [Q9NP78-7] # RefSeq NP_001229943 NM_001243014.1. [Q9NP78-6] # RefSeq NP_062570 NM_019624.3. [Q9NP78-2] # RefSeq NP_062571 NM_019625.3. [Q9NP78-1] # RefSeq NP_982269 NM_203444.3. [Q9NP78-5] # RefSeq XP_011536397 XM_011538095.2. [Q9NP78-1] # RefSeq XP_011536398 XM_011538096.2. [Q9NP78-1] # RefSeq XP_016874592 XM_017019103.1. [Q9NP78-1] # SEQUENCE CAUTION Sequence=BAA96044.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAD66830.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the ABC transporter superfamily. ABCB family. MHC peptide exporter (TC 3.A.1.209) subfamily. {ECO 0000305}. # SIMILARITY Contains 1 ABC transmembrane type-1 domain. {ECO:0000255|PROSITE-ProRule PRU00441}. # SIMILARITY Contains 1 ABC transporter domain. {ECO:0000255|PROSITE-ProRule PRU00434}. # SMART SM00382 AAA # SUBCELLULAR LOCATION ABCB9_HUMAN Lysosome membrane {ECO 0000269|PubMed 10748049, ECO 0000269|PubMed 15577206, ECO 0000269|PubMed 17897319, ECO 0000269|PubMed 17977821, ECO 0000269|PubMed 18175933, ECO 0000269|PubMed 18952056, ECO 0000269|PubMed 20377823, ECO 0000269|PubMed 21212514}; Multi- pass membrane protein {ECO 0000255|PROSITE-ProRule PRU00441, ECO 0000269|PubMed 10748049, ECO 0000269|PubMed 15577206, ECO 0000269|PubMed 17897319, ECO 0000269|PubMed 17977821, ECO 0000269|PubMed 18175933, ECO 0000269|PubMed 18952056, ECO 0000269|PubMed 20377823, ECO 0000269|PubMed 21212514}. Note=May be located in membrane rafts. # SUBUNIT Homodimer. {ECO:0000269|PubMed 15863492}. # SUPFAM SSF52540 SSF52540 # SUPFAM SSF90123 SSF90123 # TCDB 3.A.1.209 the atp-binding cassette (abc) superfamily # TISSUE SPECIFICITY ABCB9_HUMAN Highly expressed in testis, and at moderate levels in brain, spinal cord, and thyroid. Not expressed in monocytes but strongly expressed during differentiation of monocytes to dendritic cells and macrophages. {ECO 0000269|PubMed 10748049, ECO 0000269|PubMed 17977821}. # UCSC uc001udm human. [Q9NP78-1] # WEB RESOURCE ABCB9_HUMAN Name=ABCMdb; Note=Database for mutations in ABC proteins; URL="http //abcmutations.hegelab.org/proteinDetails?uniprot_id=Q9NP78"; # eggNOG COG1132 LUCA # eggNOG KOG0058 Eukaryota BLAST swissprot:ABCB9_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ABCB9_HUMAN BioCyc ZFISH:HS07697-MONOMER http://biocyc.org/getid?id=ZFISH:HS07697-MONOMER COXPRESdb 23457 http://coxpresdb.jp/data/gene/23457.shtml CleanEx HS_ABCB9 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ABCB9 DOI 10.1007/s10038-002-8653-6 http://dx.doi.org/10.1007/s10038-002-8653-6 DOI 10.1016/j.bbrc.2003.08.081 http://dx.doi.org/10.1016/j.bbrc.2003.08.081 DOI 10.1016/j.bbrc.2008.10.078 http://dx.doi.org/10.1016/j.bbrc.2008.10.078 DOI 10.1016/j.jmb.2004.09.028 http://dx.doi.org/10.1016/j.jmb.2004.09.028 DOI 10.1038/nature04569 http://dx.doi.org/10.1038/nature04569 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.M001819200 http://dx.doi.org/10.1074/jbc.M001819200 DOI 10.1074/jbc.M503231200 http://dx.doi.org/10.1074/jbc.M503231200 DOI 10.1074/jbc.M708139200 http://dx.doi.org/10.1074/jbc.M708139200 DOI 10.1074/jbc.M801794200 http://dx.doi.org/10.1074/jbc.M801794200 DOI 10.1093/dnares/7.2.143 http://dx.doi.org/10.1093/dnares/7.2.143 DOI 10.1093/oxfordjournals.jbchem.a022805 http://dx.doi.org/10.1093/oxfordjournals.jbchem.a022805 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1600-0854.2007.00643.x http://dx.doi.org/10.1111/j.1600-0854.2007.00643.x DOI 10.1111/j.1600-0854.2009.01021.x http://dx.doi.org/10.1111/j.1600-0854.2009.01021.x DOI 10.1248/bpb.27.1916 http://dx.doi.org/10.1248/bpb.27.1916 DOI 10.1248/bpb.31.1 http://dx.doi.org/10.1248/bpb.31.1 DOI 10.1248/bpb.34.36 http://dx.doi.org/10.1248/bpb.34.36 EMBL AB040953 http://www.ebi.ac.uk/ena/data/view/AB040953 EMBL AB045381 http://www.ebi.ac.uk/ena/data/view/AB045381 EMBL AB112582 http://www.ebi.ac.uk/ena/data/view/AB112582 EMBL AB112583 http://www.ebi.ac.uk/ena/data/view/AB112583 EMBL AB177852 http://www.ebi.ac.uk/ena/data/view/AB177852 EMBL AC026362 http://www.ebi.ac.uk/ena/data/view/AC026362 EMBL AC027290 http://www.ebi.ac.uk/ena/data/view/AC027290 EMBL AF216494 http://www.ebi.ac.uk/ena/data/view/AF216494 EMBL AK304295 http://www.ebi.ac.uk/ena/data/view/AK304295 EMBL BC017348 http://www.ebi.ac.uk/ena/data/view/BC017348 Ensembl ENST00000280560 http://www.ensembl.org/id/ENST00000280560 Ensembl ENST00000344275 http://www.ensembl.org/id/ENST00000344275 Ensembl ENST00000346530 http://www.ensembl.org/id/ENST00000346530 Ensembl ENST00000392439 http://www.ensembl.org/id/ENST00000392439 Ensembl ENST00000442833 http://www.ensembl.org/id/ENST00000442833 Ensembl ENST00000540285 http://www.ensembl.org/id/ENST00000540285 Ensembl ENST00000542678 http://www.ensembl.org/id/ENST00000542678 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005764 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005764 GO_component GO:0005765 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005765 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0030176 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030176 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0015421 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015421 GO_function GO:0015440 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015440 GO_function GO:0022891 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022891 GO_function GO:0042803 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042803 GO_process GO:0002481 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002481 GO_process GO:0002485 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002485 GO_process GO:0002489 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002489 GO_process GO:0002591 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002591 GO_process GO:0015031 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015031 GO_process GO:0015833 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015833 GO_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005764 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005764 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0002376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002376 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 3.40.50.300 http://www.cathdb.info/version/latest/superfamily/3.40.50.300 GeneCards ABCB9 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ABCB9 GeneID 23457 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=23457 GeneTree ENSGT00550000074497 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074497 HGNC HGNC:50 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:50 HOVERGEN HBG008358 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG008358&db=HOVERGEN HPA CAB033052 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB033052 HPA HPA035114 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA035114 InParanoid Q9NP78 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9NP78 InterPro IPR003439 http://www.ebi.ac.uk/interpro/entry/IPR003439 InterPro IPR003593 http://www.ebi.ac.uk/interpro/entry/IPR003593 InterPro IPR011527 http://www.ebi.ac.uk/interpro/entry/IPR011527 InterPro IPR017871 http://www.ebi.ac.uk/interpro/entry/IPR017871 InterPro IPR027417 http://www.ebi.ac.uk/interpro/entry/IPR027417 InterPro IPR030254 http://www.ebi.ac.uk/interpro/entry/IPR030254 Jabion 23457 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=23457 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Gene hsa:23457 http://www.genome.jp/dbget-bin/www_bget?hsa:23457 KEGG_Orthology KO:K05656 http://www.genome.jp/dbget-bin/www_bget?KO:K05656 KEGG_Pathway ko02010 http://www.genome.jp/kegg-bin/show_pathway?ko02010 KEGG_Pathway ko04142 http://www.genome.jp/kegg-bin/show_pathway?ko04142 MIM 605453 http://www.ncbi.nlm.nih.gov/omim/605453 PANTHER PTHR24221:SF242 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24221:SF242 PROSITE PS00211 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00211 PROSITE PS50893 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50893 PROSITE PS50929 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50929 PSORT swissprot:ABCB9_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ABCB9_HUMAN PSORT-B swissprot:ABCB9_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ABCB9_HUMAN PSORT2 swissprot:ABCB9_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ABCB9_HUMAN Pfam PF00005 http://pfam.xfam.org/family/PF00005 Pfam PF00664 http://pfam.xfam.org/family/PF00664 PharmGKB PA24391 http://www.pharmgkb.org/do/serve?objId=PA24391&objCls=Gene Phobius swissprot:ABCB9_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ABCB9_HUMAN PhylomeDB Q9NP78 http://phylomedb.org/?seqid=Q9NP78 ProteinModelPortal Q9NP78 http://www.proteinmodelportal.org/query/uniprot/Q9NP78 PubMed 10748049 http://www.ncbi.nlm.nih.gov/pubmed/10748049 PubMed 10819331 http://www.ncbi.nlm.nih.gov/pubmed/10819331 PubMed 11011155 http://www.ncbi.nlm.nih.gov/pubmed/11011155 PubMed 11829140 http://www.ncbi.nlm.nih.gov/pubmed/11829140 PubMed 13679046 http://www.ncbi.nlm.nih.gov/pubmed/13679046 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15491607 http://www.ncbi.nlm.nih.gov/pubmed/15491607 PubMed 15577206 http://www.ncbi.nlm.nih.gov/pubmed/15577206 PubMed 15863492 http://www.ncbi.nlm.nih.gov/pubmed/15863492 PubMed 16541075 http://www.ncbi.nlm.nih.gov/pubmed/16541075 PubMed 17897319 http://www.ncbi.nlm.nih.gov/pubmed/17897319 PubMed 17977821 http://www.ncbi.nlm.nih.gov/pubmed/17977821 PubMed 18175933 http://www.ncbi.nlm.nih.gov/pubmed/18175933 PubMed 18434309 http://www.ncbi.nlm.nih.gov/pubmed/18434309 PubMed 18952056 http://www.ncbi.nlm.nih.gov/pubmed/18952056 PubMed 20377823 http://www.ncbi.nlm.nih.gov/pubmed/20377823 PubMed 21212514 http://www.ncbi.nlm.nih.gov/pubmed/21212514 Reactome R-HSA-382556 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-382556 RefSeq NP_001229942 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001229942 RefSeq NP_001229943 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001229943 RefSeq NP_062570 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_062570 RefSeq NP_062571 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_062571 RefSeq NP_982269 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_982269 RefSeq XP_011536397 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011536397 RefSeq XP_011536398 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011536398 RefSeq XP_016874592 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016874592 SMART SM00382 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00382 SMR Q9NP78 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9NP78 STRING 9606.ENSP00000280560 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000280560&targetmode=cogs SUPFAM SSF52540 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52540 SUPFAM SSF90123 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF90123 TCDB 3.A.1.209 http://www.tcdb.org/search/result.php?tc=3.A.1.209 UCSC uc001udm http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001udm&org=rat UniGene Hs.511951 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.511951 UniProtKB ABCB9_HUMAN http://www.uniprot.org/uniprot/ABCB9_HUMAN UniProtKB-AC Q9NP78 http://www.uniprot.org/uniprot/Q9NP78 charge swissprot:ABCB9_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ABCB9_HUMAN eggNOG COG1132 http://eggnogapi.embl.de/nog_data/html/tree/COG1132 eggNOG KOG0058 http://eggnogapi.embl.de/nog_data/html/tree/KOG0058 epestfind swissprot:ABCB9_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ABCB9_HUMAN garnier swissprot:ABCB9_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ABCB9_HUMAN helixturnhelix swissprot:ABCB9_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ABCB9_HUMAN hmoment swissprot:ABCB9_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ABCB9_HUMAN iep swissprot:ABCB9_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ABCB9_HUMAN inforesidue swissprot:ABCB9_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ABCB9_HUMAN neXtProt NX_Q9NP78 http://www.nextprot.org/db/entry/NX_Q9NP78 octanol swissprot:ABCB9_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ABCB9_HUMAN pepcoil swissprot:ABCB9_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ABCB9_HUMAN pepdigest swissprot:ABCB9_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ABCB9_HUMAN pepinfo swissprot:ABCB9_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ABCB9_HUMAN pepnet swissprot:ABCB9_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ABCB9_HUMAN pepstats swissprot:ABCB9_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ABCB9_HUMAN pepwheel swissprot:ABCB9_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ABCB9_HUMAN pepwindow swissprot:ABCB9_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ABCB9_HUMAN sigcleave swissprot:ABCB9_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ABCB9_HUMAN ## Database ID URL or Descriptions # AltName S2611_HUMAN Solute carrier family 26 member 11 # ChiTaRS SLC26A11 human # Ensembl ENST00000361193 ENSP00000355384; ENSG00000181045 # Ensembl ENST00000411502 ENSP00000403998; ENSG00000181045 # Ensembl ENST00000546047 ENSP00000440724; ENSG00000181045 # Ensembl ENST00000572725 ENSP00000459470; ENSG00000181045 # ExpressionAtlas Q86WA9 baseline and differential # FUNCTION S2611_HUMAN Exhibits sodium-independent sulfate anion transporter activity that may cooperate with SLC26A2 to mediate DIDS-sensitive sulfate uptake into high endothelial venules endothelial cells (HEVEC). {ECO 0000269|PubMed 12626430}. # GO_component GO:0005654 nucleoplasm; IDA:HPA. # GO_component GO:0005765 lysosomal membrane; IDA:UniProtKB. # GO_component GO:0005783 endoplasmic reticulum; IDA:UniProtKB. # GO_component GO:0005794 Golgi apparatus; IDA:UniProtKB. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0016021 integral component of membrane; IDA:UniProtKB. # GO_component GO:0043231 intracellular membrane-bounded organelle; IDA:HPA. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0005254 chloride channel activity; IBA:GO_Central. # GO_function GO:0008271 secondary active sulfate transmembrane transporter activity; IEA:InterPro. # GO_function GO:0008509 anion transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0015106 bicarbonate transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015116 sulfate transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0019531 oxalate transmembrane transporter activity; IBA:GO_Central. # GO_function S2611_HUMAN GO 0015301 anion anion antiporter activity; IBA GO_Central. # GO_process GO:0008272 sulfate transport; IDA:UniProtKB. # GO_process GO:0015701 bicarbonate transport; IBA:GO_Central. # GO_process GO:0042391 regulation of membrane potential; IBA:GO_Central. # GO_process GO:0051453 regulation of intracellular pH; IBA:GO_Central. # GO_process GO:1902476 chloride transmembrane transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005654 nucleoplasm # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_component GO:0005794 Golgi apparatus # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 3.30.750.24 -; 1. # Genevisible Q86WA9 HS # HGNC HGNC:14471 SLC26A11 # InterPro IPR001902 SLC26A/SulP_fam # InterPro IPR002645 STAS_dom # InterPro IPR011547 SLC26A/SulP_dom # InterPro IPR018045 S04_transporter_CS # KEGG_Brite ko02001 Solute carrier family # MIM 610117 gene # Organism S2611_HUMAN Homo sapiens (Human) # PANTHER PTHR11814 PTHR11814 # PROSITE PS01130 SLC26A # PROSITE PS50801 STAS # Pfam PF00916 Sulfate_transp # Pfam PF01740 STAS # Proteomes UP000005640 Chromosome 17 # Reactome R-HSA-427601 Multifunctional anion exchangers # RecName S2611_HUMAN Sodium-independent sulfate anion transporter # RefSeq NP_001159819 NM_001166347.1 # RefSeq NP_001159820 NM_001166348.1 # RefSeq NP_001159821 NM_001166349.1 # RefSeq NP_775897 NM_173626.3 # SIMILARITY Belongs to the SLC26A/SulP transporter (TC 2.A.53) family. {ECO 0000255}. # SIMILARITY Contains 1 STAS domain. {ECO:0000255|PROSITE- ProRule PRU00198}. # SUBCELLULAR LOCATION S2611_HUMAN Cell membrane {ECO 0000269|PubMed 12626430}; Multi-pass membrane protein {ECO 0000269|PubMed 12626430}. Lysosome membrane; Multi-pass membrane protein {ECO 0000269|PubMed 12626430}. # SUPFAM SSF52091 SSF52091 # TCDB 2.A.53.1.10 the sulfate permease (sulp) family # TISSUE SPECIFICITY S2611_HUMAN Detected in all tissues tested with highest expression observed in brain, kidney, HEVEC and placenta and lowest in pancreas, skeletal muscle, liver, lung and heart. {ECO 0000269|PubMed 11087667, ECO 0000269|PubMed 12626430}. # UCSC uc002jyb human # eggNOG COG0659 LUCA # eggNOG KOG0236 Eukaryota BLAST swissprot:S2611_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S2611_HUMAN COXPRESdb 284129 http://coxpresdb.jp/data/gene/284129.shtml CleanEx HS_SLC26A11 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC26A11 DOI 10.1002/pmic.201000196 http://dx.doi.org/10.1002/pmic.201000196 DOI 10.1006/geno.2000.6355 http://dx.doi.org/10.1006/geno.2000.6355 DOI 10.1016/j.ajhg.2012.03.012 http://dx.doi.org/10.1016/j.ajhg.2012.03.012 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1093/dnares/12.2.117 http://dx.doi.org/10.1093/dnares/12.2.117 DOI 10.1096/fj.02-0787fje http://dx.doi.org/10.1096/fj.02-0787fje DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1600-0854.2007.00643.x http://dx.doi.org/10.1111/j.1600-0854.2007.00643.x EMBL AF331524 http://www.ebi.ac.uk/ena/data/view/AF331524 EMBL AF345195 http://www.ebi.ac.uk/ena/data/view/AF345195 EMBL AJ544073 http://www.ebi.ac.uk/ena/data/view/AJ544073 EMBL AK075248 http://www.ebi.ac.uk/ena/data/view/AK075248 EMBL AK315132 http://www.ebi.ac.uk/ena/data/view/AK315132 EMBL BC035900 http://www.ebi.ac.uk/ena/data/view/BC035900 EMBL BC047451 http://www.ebi.ac.uk/ena/data/view/BC047451 Ensembl ENST00000361193 http://www.ensembl.org/id/ENST00000361193 Ensembl ENST00000411502 http://www.ensembl.org/id/ENST00000411502 Ensembl ENST00000546047 http://www.ensembl.org/id/ENST00000546047 Ensembl ENST00000572725 http://www.ensembl.org/id/ENST00000572725 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GO_component GO:0005765 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005765 GO_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GO_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0043231 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043231 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0005254 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005254 GO_function GO:0008271 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008271 GO_function GO:0008509 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008509 GO_function GO:0015106 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015106 GO_function GO:0015116 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015116 GO_function GO:0015301 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015301 GO_function GO:0019531 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019531 GO_process GO:0008272 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008272 GO_process GO:0015701 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015701 GO_process GO:0042391 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042391 GO_process GO:0051453 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051453 GO_process GO:1902476 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902476 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 3.30.750.24 http://www.cathdb.info/version/latest/superfamily/3.30.750.24 GeneCards SLC26A11 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC26A11 GeneID 284129 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=284129 GeneTree ENSGT00850000132388 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00850000132388 HGNC HGNC:14471 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:14471 HOVERGEN HBG054728 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG054728&db=HOVERGEN HPA HPA029893 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA029893 InParanoid Q86WA9 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q86WA9 InterPro IPR001902 http://www.ebi.ac.uk/interpro/entry/IPR001902 InterPro IPR002645 http://www.ebi.ac.uk/interpro/entry/IPR002645 InterPro IPR011547 http://www.ebi.ac.uk/interpro/entry/IPR011547 InterPro IPR018045 http://www.ebi.ac.uk/interpro/entry/IPR018045 Jabion 284129 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=284129 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:284129 http://www.genome.jp/dbget-bin/www_bget?hsa:284129 KEGG_Orthology KO:K14708 http://www.genome.jp/dbget-bin/www_bget?KO:K14708 MIM 610117 http://www.ncbi.nlm.nih.gov/omim/610117 OMA KMDFVAG http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=KMDFVAG OrthoDB EOG091G05ML http://cegg.unige.ch/orthodb/results?searchtext=EOG091G05ML PANTHER PTHR11814 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11814 PROSITE PS01130 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS01130 PROSITE PS50801 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50801 PSORT swissprot:S2611_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S2611_HUMAN PSORT-B swissprot:S2611_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S2611_HUMAN PSORT2 swissprot:S2611_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S2611_HUMAN Pfam PF00916 http://pfam.xfam.org/family/PF00916 Pfam PF01740 http://pfam.xfam.org/family/PF01740 PharmGKB PA37888 http://www.pharmgkb.org/do/serve?objId=PA37888&objCls=Gene Phobius swissprot:S2611_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S2611_HUMAN PhylomeDB Q86WA9 http://phylomedb.org/?seqid=Q86WA9 ProteinModelPortal Q86WA9 http://www.proteinmodelportal.org/query/uniprot/Q86WA9 PubMed 11087667 http://www.ncbi.nlm.nih.gov/pubmed/11087667 PubMed 12626430 http://www.ncbi.nlm.nih.gov/pubmed/12626430 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16303743 http://www.ncbi.nlm.nih.gov/pubmed/16303743 PubMed 17897319 http://www.ncbi.nlm.nih.gov/pubmed/17897319 PubMed 20957757 http://www.ncbi.nlm.nih.gov/pubmed/20957757 PubMed 22521418 http://www.ncbi.nlm.nih.gov/pubmed/22521418 Reactome R-HSA-427601 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-427601 RefSeq NP_001159819 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001159819 RefSeq NP_001159820 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001159820 RefSeq NP_001159821 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001159821 RefSeq NP_775897 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_775897 SMR Q86WA9 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q86WA9 STRING 9606.ENSP00000355384 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000355384&targetmode=cogs SUPFAM SSF52091 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52091 TCDB 2.A.53.1.10 http://www.tcdb.org/search/result.php?tc=2.A.53.1.10 UCSC uc002jyb http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002jyb&org=rat UniGene Hs.4866 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.4866 UniProtKB S2611_HUMAN http://www.uniprot.org/uniprot/S2611_HUMAN UniProtKB-AC Q86WA9 http://www.uniprot.org/uniprot/Q86WA9 charge swissprot:S2611_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S2611_HUMAN eggNOG COG0659 http://eggnogapi.embl.de/nog_data/html/tree/COG0659 eggNOG KOG0236 http://eggnogapi.embl.de/nog_data/html/tree/KOG0236 epestfind swissprot:S2611_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S2611_HUMAN garnier swissprot:S2611_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S2611_HUMAN helixturnhelix swissprot:S2611_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S2611_HUMAN hmoment swissprot:S2611_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S2611_HUMAN iep swissprot:S2611_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S2611_HUMAN inforesidue swissprot:S2611_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S2611_HUMAN neXtProt NX_Q86WA9 http://www.nextprot.org/db/entry/NX_Q86WA9 octanol swissprot:S2611_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S2611_HUMAN pepcoil swissprot:S2611_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S2611_HUMAN pepdigest swissprot:S2611_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S2611_HUMAN pepinfo swissprot:S2611_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S2611_HUMAN pepnet swissprot:S2611_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S2611_HUMAN pepstats swissprot:S2611_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S2611_HUMAN pepwheel swissprot:S2611_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S2611_HUMAN pepwindow swissprot:S2611_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S2611_HUMAN sigcleave swissprot:S2611_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S2611_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS SPX3_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q8NCC5-1; Sequence=Displayed; Name=2; IsoId=Q8NCC5-2; Sequence=VSP_029114; Note=No experimental confirmation available.; Name=3; IsoId=Q8NCC5-3; Sequence=VSP_029113, VSP_029115; Note=No experimental confirmation available.; # AltName SPX3_HUMAN Solute carrier family 37 member 3 # BioGrid 123982 22 # CCDS CCDS5858 -. [Q8NCC5-3] # CCDS CCDS5859 -. [Q8NCC5-1] # CCDS CCDS75669 -. [Q8NCC5-2] # CDD cd06174 MFS # ChiTaRS SLC37A3 human # Ensembl ENST00000326232 ENSP00000321498; ENSG00000157800. [Q8NCC5-1] # Ensembl ENST00000340308 ENSP00000343358; ENSG00000157800. [Q8NCC5-3] # Ensembl ENST00000447932 ENSP00000397481; ENSG00000157800. [Q8NCC5-2] # ExpressionAtlas Q8NCC5 baseline and differential # GO_component GO:0005737 cytoplasm; IDA:HPA. # GO_component GO:0030176 integral component of endoplasmic reticulum membrane; IDA:UniProtKB. # GO_function GO:0022857 transmembrane transporter activity; IBA:GO_Central. # GO_process GO:0006820 anion transport; IBA:GO_Central. # GO_process GO:0008643 carbohydrate transport; IEA:UniProtKB-KW. # GO_process GO:0055085 transmembrane transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0055085 transmembrane transport # Genevisible Q8NCC5 HS # HGNC HGNC:20651 SLC37A3 # IntAct Q8NCC5 2 # InterPro IPR000849 Sugar_P_transporter # InterPro IPR011701 MFS # InterPro IPR020846 MFS_dom # KEGG_Brite ko02000 Transporters # KEGG_Brite ko02001 Solute carrier family # Organism SPX3_HUMAN Homo sapiens (Human) # PIRSF PIRSF002808 Hexose_phosphate_transp # PROSITE PS50850 MFS # Pfam PF07690 MFS_1 # Proteomes UP000005640 Chromosome 7 # RecName SPX3_HUMAN Sugar phosphate exchanger 3 # RefSeq NP_001274427 NM_001287498.1. [Q8NCC5-2] # RefSeq NP_115671 NM_032295.3. [Q8NCC5-3] # RefSeq NP_996996 NM_207113.2. [Q8NCC5-1] # RefSeq XP_016868201 XM_017012712.1. [Q8NCC5-1] # RefSeq XP_016868202 XM_017012713.1. [Q8NCC5-3] # SIMILARITY Belongs to the major facilitator superfamily. Organophosphate:Pi antiporter (OPA) (TC 2.A.1.4) family. {ECO 0000305}. # SUBCELLULAR LOCATION SPX3_HUMAN Endoplasmic reticulum membrane {ECO 0000269|PubMed 21949678}; Multi-pass membrane protein {ECO 0000255}. # SUPFAM SSF103473 SSF103473 # TCDB 2.A.1.4 the major facilitator superfamily (mfs) # TISSUE SPECIFICITY Expressed in liver, kidney, intestine and pancreas. {ECO:0000269|PubMed 21949678}. # UCSC uc003vvo human. [Q8NCC5-1] # eggNOG COG2271 LUCA # eggNOG ENOG410IP3Z Eukaryota BLAST swissprot:SPX3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SPX3_HUMAN COXPRESdb 84255 http://coxpresdb.jp/data/gene/84255.shtml CleanEx HS_SLC37A3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC37A3 DOI 10.1038/nature01782 http://dx.doi.org/10.1038/nature01782 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1101/gr.GR1547R http://dx.doi.org/10.1101/gr.GR1547R DOI 10.1126/science.1083423 http://dx.doi.org/10.1126/science.1083423 DOI 10.1371/journal.pone.0023157 http://dx.doi.org/10.1371/journal.pone.0023157 EMBL AC093087 http://www.ebi.ac.uk/ena/data/view/AC093087 EMBL AK074823 http://www.ebi.ac.uk/ena/data/view/AK074823 EMBL AL136583 http://www.ebi.ac.uk/ena/data/view/AL136583 EMBL BC028380 http://www.ebi.ac.uk/ena/data/view/BC028380 EMBL BC046567 http://www.ebi.ac.uk/ena/data/view/BC046567 EMBL CH236950 http://www.ebi.ac.uk/ena/data/view/CH236950 EMBL CH236950 http://www.ebi.ac.uk/ena/data/view/CH236950 EMBL CH471070 http://www.ebi.ac.uk/ena/data/view/CH471070 EMBL CH471070 http://www.ebi.ac.uk/ena/data/view/CH471070 EMBL CH471070 http://www.ebi.ac.uk/ena/data/view/CH471070 Ensembl ENST00000326232 http://www.ensembl.org/id/ENST00000326232 Ensembl ENST00000340308 http://www.ensembl.org/id/ENST00000340308 Ensembl ENST00000447932 http://www.ensembl.org/id/ENST00000447932 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0030176 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030176 GO_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GO_process GO:0006820 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006820 GO_process GO:0008643 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008643 GO_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC37A3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC37A3 GeneID 84255 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=84255 GeneTree ENSGT00530000062949 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000062949 HGNC HGNC:20651 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:20651 HOGENOM HOG000230522 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000230522&db=HOGENOM6 HOVERGEN HBG005851 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG005851&db=HOVERGEN HPA HPA014713 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA014713 HPA HPA061841 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA061841 InParanoid Q8NCC5 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8NCC5 IntAct Q8NCC5 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q8NCC5* InterPro IPR000849 http://www.ebi.ac.uk/interpro/entry/IPR000849 InterPro IPR011701 http://www.ebi.ac.uk/interpro/entry/IPR011701 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 84255 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=84255 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:84255 http://www.genome.jp/dbget-bin/www_bget?hsa:84255 KEGG_Orthology KO:K03447 http://www.genome.jp/dbget-bin/www_bget?KO:K03447 MINT MINT-4786742 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-4786742 OMA KYGYEYA http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=KYGYEYA OrthoDB EOG091G066D http://cegg.unige.ch/orthodb/results?searchtext=EOG091G066D PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PSORT swissprot:SPX3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SPX3_HUMAN PSORT-B swissprot:SPX3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SPX3_HUMAN PSORT2 swissprot:SPX3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SPX3_HUMAN Pfam PF07690 http://pfam.xfam.org/family/PF07690 PharmGKB PA134895240 http://www.pharmgkb.org/do/serve?objId=PA134895240&objCls=Gene Phobius swissprot:SPX3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SPX3_HUMAN PhylomeDB Q8NCC5 http://phylomedb.org/?seqid=Q8NCC5 ProteinModelPortal Q8NCC5 http://www.proteinmodelportal.org/query/uniprot/Q8NCC5 PubMed 11230166 http://www.ncbi.nlm.nih.gov/pubmed/11230166 PubMed 12690205 http://www.ncbi.nlm.nih.gov/pubmed/12690205 PubMed 12853948 http://www.ncbi.nlm.nih.gov/pubmed/12853948 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 21949678 http://www.ncbi.nlm.nih.gov/pubmed/21949678 RefSeq NP_001274427 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001274427 RefSeq NP_115671 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_115671 RefSeq NP_996996 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_996996 RefSeq XP_016868201 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016868201 RefSeq XP_016868202 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016868202 STRING 9606.ENSP00000321498 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000321498&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.1.4 http://www.tcdb.org/search/result.php?tc=2.A.1.4 UCSC uc003vvo http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003vvo&org=rat UniGene Hs.446021 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.446021 UniGene Hs.738791 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.738791 UniProtKB SPX3_HUMAN http://www.uniprot.org/uniprot/SPX3_HUMAN UniProtKB-AC Q8NCC5 http://www.uniprot.org/uniprot/Q8NCC5 charge swissprot:SPX3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SPX3_HUMAN eggNOG COG2271 http://eggnogapi.embl.de/nog_data/html/tree/COG2271 eggNOG ENOG410IP3Z http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IP3Z epestfind swissprot:SPX3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SPX3_HUMAN garnier swissprot:SPX3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SPX3_HUMAN helixturnhelix swissprot:SPX3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SPX3_HUMAN hmoment swissprot:SPX3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SPX3_HUMAN iep swissprot:SPX3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SPX3_HUMAN inforesidue swissprot:SPX3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SPX3_HUMAN neXtProt NX_Q8NCC5 http://www.nextprot.org/db/entry/NX_Q8NCC5 octanol swissprot:SPX3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SPX3_HUMAN pepcoil swissprot:SPX3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SPX3_HUMAN pepdigest swissprot:SPX3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SPX3_HUMAN pepinfo swissprot:SPX3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SPX3_HUMAN pepnet swissprot:SPX3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SPX3_HUMAN pepstats swissprot:SPX3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SPX3_HUMAN pepwheel swissprot:SPX3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SPX3_HUMAN pepwindow swissprot:SPX3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SPX3_HUMAN sigcleave swissprot:SPX3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SPX3_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS SO1A2_HUMAN Event=Alternative splicing; Named isoforms=2; Name=OATP1a; IsoId=P46721-1; Sequence=Displayed; Name=OATP1b; IsoId=P46721-2; Sequence=VSP_006130, VSP_006131, VSP_006132; # AltName SO1A2_HUMAN OATP-A # AltName SO1A2_HUMAN Organic anion-transporting polypeptide 1 # AltName SO1A2_HUMAN Sodium-independent organic anion transporter # AltName SO1A2_HUMAN Solute carrier family 21 member 3 # CCDS CCDS8686 -. [P46721-1] # CDD cd06174 MFS # ChiTaRS SLCO1A2 human # DrugBank DB00091 Cyclosporine # DrugBank DB00175 Pravastatin # DrugBank DB00199 Erythromycin # DrugBank DB00220 Nelfinavir # DrugBank DB00224 Indinavir # DrugBank DB00227 Lovastatin # DrugBank DB00279 Liothyronine # DrugBank DB00286 Conjugated Estrogens # DrugBank DB00291 Chlorambucil # DrugBank DB00328 Indomethacin # DrugBank DB00345 Aminohippurate # DrugBank DB00390 Digoxin # DrugBank DB00421 Spironolactone # DrugBank DB00451 Levothyroxine # DrugBank DB00468 Quinine # DrugBank DB00503 Ritonavir # DrugBank DB00563 Methotrexate # DrugBank DB00584 Enalapril # DrugBank DB00624 Testosterone # DrugBank DB00635 Prednisone # DrugBank DB00641 Simvastatin # DrugBank DB00655 Estrone # DrugBank DB00661 Verapamil # DrugBank DB00669 Sumatriptan # DrugBank DB00728 Rocuronium # DrugBank DB00741 Hydrocortisone # DrugBank DB00783 Estradiol # DrugBank DB00788 Naproxen # DrugBank DB00860 Prednisolone # DrugBank DB00887 Bumetanide # DrugBank DB00908 Quinidine # DrugBank DB00917 Dinoprostone # DrugBank DB00950 Fexofenadine # DrugBank DB01009 Ketoprofen # DrugBank DB01016 Glyburide # DrugBank DB01026 Ketoconazole # DrugBank DB01032 Probenecid # DrugBank DB01045 Rifampicin # DrugBank DB01050 Ibuprofen # DrugBank DB01076 Atorvastatin # DrugBank DB01092 Ouabain # DrugBank DB01098 Rosuvastatin # DrugBank DB01124 Tolbutamide # DrugBank DB01183 Naloxone # DrugBank DB01232 Saquinavir # DrugBank DB01234 Dexamethasone # DrugBank DB01396 Digitoxin # DrugBank DB01583 Liotrix # DrugBank DB01586 Ursodeoxycholic acid # DrugBank DB02659 Cholic Acid # DrugBank DB03619 Deoxycholic Acid # DrugBank DB04573 Estriol # DrugBank DB06710 Methyltestosterone # DrugBank DB08834 Tauroursodeoxycholic acid # DrugBank DB08893 Mirabegron # Ensembl ENST00000307378 ENSP00000305974; ENSG00000084453. [P46721-1] # ExpressionAtlas P46721 baseline and differential # FUNCTION SO1A2_HUMAN Mediates the Na(+)-independent transport of organic anions such as sulfobromophthalein (BSP) and conjugated (taurocholate) and unconjugated (cholate) bile acids (By similarity). Selectively inhibited by the grapefruit juice component naringin. {ECO 0000250, ECO 0000269|PubMed 17301733}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_function GO:0008514 organic anion transmembrane transporter activity; TAS:ProtInc. # GO_function GO:0015125 bile acid transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015347 sodium-independent organic anion transmembrane transporter activity; IBA:GO_Central. # GO_process GO:0008206 bile acid metabolic process; IBA:GO_Central. # GO_process GO:0015711 organic anion transport; TAS:ProtInc. # GO_process GO:0015721 bile acid and bile salt transport; TAS:Reactome. # GO_process GO:0043252 sodium-independent organic anion transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006629 lipid metabolic process # GOslim_process GO:0006810 transport # GOslim_process GO:0044281 small molecule metabolic process # Genevisible P46721 HS # HGNC HGNC:10956 SLCO1A2 # InterPro IPR002350 Kazal_dom # InterPro IPR004156 OA_transporter # InterPro IPR020846 MFS_dom # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02001 Solute carrier family # KEGG_Pathway ko04976 Bile secretion # MIM 602883 gene # Organism SO1A2_HUMAN Homo sapiens (Human) # PANTHER PTHR11388 PTHR11388 # PROSITE PS50850 MFS # PROSITE PS51465 KAZAL_2 # Pfam PF03137 OATP # Pfam PF07648 Kazal_2 # Proteomes UP000005640 Chromosome 12 # Reactome R-HSA-159418 Recycling of bile acids and salts # Reactome R-HSA-879518 Transport of organic anions # RecName SO1A2_HUMAN Solute carrier organic anion transporter family member 1A2 # RefSeq NP_066580 NM_021094.3. [P46721-1] # RefSeq NP_602307 NM_134431.3. [P46721-1] # RefSeq XP_005253531 XM_005253474.3. [P46721-1] # RefSeq XP_011519120 XM_011520818.1. [P46721-1] # RefSeq XP_011519121 XM_011520819.1. [P46721-1] # SIMILARITY Belongs to the organo anion transporter (TC 2.A.60) family. {ECO 0000305}. # SIMILARITY Contains 1 Kazal-like domain. {ECO:0000255|PROSITE- ProRule PRU00798}. # SUBCELLULAR LOCATION SO1A2_HUMAN Cell membrane; Multi-pass membrane protein. # SUPFAM SSF103473 SSF103473; 3 # TCDB 2.A.60.1.14 the organo anion transporter (oat) family # TIGRFAMs TIGR00805 oat # UCSC uc001res human. [P46721-1] # eggNOG ENOG410XRSF LUCA # eggNOG KOG3626 Eukaryota BLAST swissprot:SO1A2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SO1A2_HUMAN BioCyc ZFISH:ENSG00000084453-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000084453-MONOMER COXPRESdb 6579 http://coxpresdb.jp/data/gene/6579.shtml CleanEx HS_SLCO1A2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLCO1A2 DOI 10.1016/0016-5085(95)90588-X http://dx.doi.org/10.1016/0016-5085(95)90588-X DOI 10.1038/sj.clpt.6100104 http://dx.doi.org/10.1038/sj.clpt.6100104 DOI 10.1074/jbc.M001448200 http://dx.doi.org/10.1074/jbc.M001448200 DOI 10.1074/jbc.M411092200 http://dx.doi.org/10.1074/jbc.M411092200 DOI 10.1126/science.1133427 http://dx.doi.org/10.1126/science.1133427 DOI 10.1128/MCB.21.6.1973-1985.2001 http://dx.doi.org/10.1128/MCB.21.6.1973-1985.2001 DrugBank DB00091 http://www.drugbank.ca/drugs/DB00091 DrugBank DB00175 http://www.drugbank.ca/drugs/DB00175 DrugBank DB00199 http://www.drugbank.ca/drugs/DB00199 DrugBank DB00220 http://www.drugbank.ca/drugs/DB00220 DrugBank DB00224 http://www.drugbank.ca/drugs/DB00224 DrugBank DB00227 http://www.drugbank.ca/drugs/DB00227 DrugBank DB00279 http://www.drugbank.ca/drugs/DB00279 DrugBank DB00286 http://www.drugbank.ca/drugs/DB00286 DrugBank DB00291 http://www.drugbank.ca/drugs/DB00291 DrugBank DB00328 http://www.drugbank.ca/drugs/DB00328 DrugBank DB00345 http://www.drugbank.ca/drugs/DB00345 DrugBank DB00390 http://www.drugbank.ca/drugs/DB00390 DrugBank DB00421 http://www.drugbank.ca/drugs/DB00421 DrugBank DB00451 http://www.drugbank.ca/drugs/DB00451 DrugBank DB00468 http://www.drugbank.ca/drugs/DB00468 DrugBank DB00503 http://www.drugbank.ca/drugs/DB00503 DrugBank DB00563 http://www.drugbank.ca/drugs/DB00563 DrugBank DB00584 http://www.drugbank.ca/drugs/DB00584 DrugBank DB00624 http://www.drugbank.ca/drugs/DB00624 DrugBank DB00635 http://www.drugbank.ca/drugs/DB00635 DrugBank DB00641 http://www.drugbank.ca/drugs/DB00641 DrugBank DB00655 http://www.drugbank.ca/drugs/DB00655 DrugBank DB00661 http://www.drugbank.ca/drugs/DB00661 DrugBank DB00669 http://www.drugbank.ca/drugs/DB00669 DrugBank DB00728 http://www.drugbank.ca/drugs/DB00728 DrugBank DB00741 http://www.drugbank.ca/drugs/DB00741 DrugBank DB00783 http://www.drugbank.ca/drugs/DB00783 DrugBank DB00788 http://www.drugbank.ca/drugs/DB00788 DrugBank DB00860 http://www.drugbank.ca/drugs/DB00860 DrugBank DB00887 http://www.drugbank.ca/drugs/DB00887 DrugBank DB00908 http://www.drugbank.ca/drugs/DB00908 DrugBank DB00917 http://www.drugbank.ca/drugs/DB00917 DrugBank DB00950 http://www.drugbank.ca/drugs/DB00950 DrugBank DB01009 http://www.drugbank.ca/drugs/DB01009 DrugBank DB01016 http://www.drugbank.ca/drugs/DB01016 DrugBank DB01026 http://www.drugbank.ca/drugs/DB01026 DrugBank DB01032 http://www.drugbank.ca/drugs/DB01032 DrugBank DB01045 http://www.drugbank.ca/drugs/DB01045 DrugBank DB01050 http://www.drugbank.ca/drugs/DB01050 DrugBank DB01076 http://www.drugbank.ca/drugs/DB01076 DrugBank DB01092 http://www.drugbank.ca/drugs/DB01092 DrugBank DB01098 http://www.drugbank.ca/drugs/DB01098 DrugBank DB01124 http://www.drugbank.ca/drugs/DB01124 DrugBank DB01183 http://www.drugbank.ca/drugs/DB01183 DrugBank DB01232 http://www.drugbank.ca/drugs/DB01232 DrugBank DB01234 http://www.drugbank.ca/drugs/DB01234 DrugBank DB01396 http://www.drugbank.ca/drugs/DB01396 DrugBank DB01583 http://www.drugbank.ca/drugs/DB01583 DrugBank DB01586 http://www.drugbank.ca/drugs/DB01586 DrugBank DB02659 http://www.drugbank.ca/drugs/DB02659 DrugBank DB03619 http://www.drugbank.ca/drugs/DB03619 DrugBank DB04573 http://www.drugbank.ca/drugs/DB04573 DrugBank DB06710 http://www.drugbank.ca/drugs/DB06710 DrugBank DB08834 http://www.drugbank.ca/drugs/DB08834 DrugBank DB08893 http://www.drugbank.ca/drugs/DB08893 EMBL AF085224 http://www.ebi.ac.uk/ena/data/view/AF085224 EMBL AF279784 http://www.ebi.ac.uk/ena/data/view/AF279784 EMBL AJ400735 http://www.ebi.ac.uk/ena/data/view/AJ400735 EMBL AJ400736 http://www.ebi.ac.uk/ena/data/view/AJ400736 EMBL AJ400737 http://www.ebi.ac.uk/ena/data/view/AJ400737 EMBL AJ400738 http://www.ebi.ac.uk/ena/data/view/AJ400738 EMBL AJ400739 http://www.ebi.ac.uk/ena/data/view/AJ400739 EMBL AJ400740 http://www.ebi.ac.uk/ena/data/view/AJ400740 EMBL AJ400741 http://www.ebi.ac.uk/ena/data/view/AJ400741 EMBL AJ400742 http://www.ebi.ac.uk/ena/data/view/AJ400742 EMBL AJ400743 http://www.ebi.ac.uk/ena/data/view/AJ400743 EMBL AJ400744 http://www.ebi.ac.uk/ena/data/view/AJ400744 EMBL AJ400745 http://www.ebi.ac.uk/ena/data/view/AJ400745 EMBL AJ400746 http://www.ebi.ac.uk/ena/data/view/AJ400746 EMBL AJ400747 http://www.ebi.ac.uk/ena/data/view/AJ400747 EMBL AJ400748 http://www.ebi.ac.uk/ena/data/view/AJ400748 EMBL U21943 http://www.ebi.ac.uk/ena/data/view/U21943 EMBL Y08062 http://www.ebi.ac.uk/ena/data/view/Y08062 Ensembl ENST00000307378 http://www.ensembl.org/id/ENST00000307378 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0008514 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008514 GO_function GO:0015125 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015125 GO_function GO:0015347 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015347 GO_process GO:0008206 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008206 GO_process GO:0015711 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015711 GO_process GO:0015721 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015721 GO_process GO:0043252 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043252 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006629 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006629 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GeneCards SLCO1A2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLCO1A2 GeneID 6579 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6579 GeneTree ENSGT00760000119014 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119014 HGNC HGNC:10956 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10956 HOGENOM HOG000231269 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231269&db=HOGENOM6 HOVERGEN HBG063896 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG063896&db=HOVERGEN InParanoid P46721 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P46721 IntAct P46721 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P46721* InterPro IPR002350 http://www.ebi.ac.uk/interpro/entry/IPR002350 InterPro IPR004156 http://www.ebi.ac.uk/interpro/entry/IPR004156 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 6579 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6579 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:6579 http://www.genome.jp/dbget-bin/www_bget?hsa:6579 KEGG_Orthology KO:K03460 http://www.genome.jp/dbget-bin/www_bget?KO:K03460 KEGG_Pathway ko04976 http://www.genome.jp/kegg-bin/show_pathway?ko04976 MIM 602883 http://www.ncbi.nlm.nih.gov/omim/602883 OMA DCNCPSK http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=DCNCPSK OrthoDB EOG091G08QD http://cegg.unige.ch/orthodb/results?searchtext=EOG091G08QD PANTHER PTHR11388 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11388 PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PROSITE PS51465 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51465 PSORT swissprot:SO1A2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SO1A2_HUMAN PSORT-B swissprot:SO1A2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SO1A2_HUMAN PSORT2 swissprot:SO1A2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SO1A2_HUMAN Pfam PF03137 http://pfam.xfam.org/family/PF03137 Pfam PF07648 http://pfam.xfam.org/family/PF07648 PharmGKB PA328 http://www.pharmgkb.org/do/serve?objId=PA328&objCls=Gene Phobius swissprot:SO1A2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SO1A2_HUMAN PhylomeDB P46721 http://phylomedb.org/?seqid=P46721 ProteinModelPortal P46721 http://www.proteinmodelportal.org/query/uniprot/P46721 PubMed 10779507 http://www.ncbi.nlm.nih.gov/pubmed/10779507 PubMed 11238933 http://www.ncbi.nlm.nih.gov/pubmed/11238933 PubMed 15632119 http://www.ncbi.nlm.nih.gov/pubmed/15632119 PubMed 16959974 http://www.ncbi.nlm.nih.gov/pubmed/16959974 PubMed 17301733 http://www.ncbi.nlm.nih.gov/pubmed/17301733 PubMed 7557095 http://www.ncbi.nlm.nih.gov/pubmed/7557095 Reactome R-HSA-159418 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-159418 Reactome R-HSA-879518 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-879518 RefSeq NP_066580 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_066580 RefSeq NP_602307 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_602307 RefSeq XP_005253531 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005253531 RefSeq XP_011519120 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011519120 RefSeq XP_011519121 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011519121 STRING 9606.ENSP00000305974 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000305974&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.60.1.14 http://www.tcdb.org/search/result.php?tc=2.A.60.1.14 TIGRFAMs TIGR00805 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00805 UCSC uc001res http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001res&org=rat UniGene Hs.46440 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.46440 UniProtKB SO1A2_HUMAN http://www.uniprot.org/uniprot/SO1A2_HUMAN UniProtKB-AC P46721 http://www.uniprot.org/uniprot/P46721 charge swissprot:SO1A2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SO1A2_HUMAN eggNOG ENOG410XRSF http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XRSF eggNOG KOG3626 http://eggnogapi.embl.de/nog_data/html/tree/KOG3626 epestfind swissprot:SO1A2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SO1A2_HUMAN garnier swissprot:SO1A2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SO1A2_HUMAN helixturnhelix swissprot:SO1A2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SO1A2_HUMAN hmoment swissprot:SO1A2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SO1A2_HUMAN iep swissprot:SO1A2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SO1A2_HUMAN inforesidue swissprot:SO1A2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SO1A2_HUMAN neXtProt NX_P46721 http://www.nextprot.org/db/entry/NX_P46721 octanol swissprot:SO1A2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SO1A2_HUMAN pepcoil swissprot:SO1A2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SO1A2_HUMAN pepdigest swissprot:SO1A2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SO1A2_HUMAN pepinfo swissprot:SO1A2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SO1A2_HUMAN pepnet swissprot:SO1A2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SO1A2_HUMAN pepstats swissprot:SO1A2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SO1A2_HUMAN pepwheel swissprot:SO1A2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SO1A2_HUMAN pepwindow swissprot:SO1A2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SO1A2_HUMAN sigcleave swissprot:SO1A2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SO1A2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS RYR1_HUMAN Event=Alternative splicing; Named isoforms=3; Comment=Experimental confirmation may be lacking for some isoforms.; Name=1; IsoId=P21817-1; Sequence=Displayed; Name=2; IsoId=P21817-2; Sequence=VSP_005951; Name=3; IsoId=P21817-3; Sequence=VSP_005952; # AltName RYR1_HUMAN Skeletal muscle calcium release channel # AltName RYR1_HUMAN Skeletal muscle ryanodine receptor # AltName RYR1_HUMAN Skeletal muscle-type ryanodine receptor # AltName RYR1_HUMAN Type 1 ryanodine receptor # BioGrid 112173 7 # CCDS CCDS33011 -. [P21817-1] # CCDS CCDS42563 -. [P21817-2] # ChiTaRS RYR1 human # DISEASE RYR1_HUMAN Central core disease of muscle (CCD) [MIM 117000] Autosomal dominant congenital myopathy, but a severe autosomal recessive form also exists. Both clinical and histological variability is observed. Affected individuals typically display hypotonia and proximal muscle weakness in infancy, leading to the delay of motor milestones. The clinical course of the disorder is usually slow or nonprogressive in adulthood, and the severity of the symptoms may vary from normal to significant muscle weakness. Microscopic examination of CCD-affected skeletal muscle reveals a predominance of type I fibers containing amorphous-looking areas (cores) that do not stain with oxidative and phosphorylase histochemical techniques. {ECO 0000269|PubMed 10051009, ECO 0000269|PubMed 10097181, ECO 0000269|PubMed 11113224, ECO 0000269|PubMed 11709545, ECO 0000269|PubMed 11741831, ECO 0000269|PubMed 12112081, ECO 0000269|PubMed 12136074, ECO 0000269|PubMed 12565913, ECO 0000269|PubMed 12566385, ECO 0000269|PubMed 12937085, ECO 0000269|PubMed 14670767, ECO 0000269|PubMed 14985404, ECO 0000269|PubMed 17204054, ECO 0000269|PubMed 17226826, ECO 0000269|PubMed 18253926, ECO 0000269|PubMed 18312400, ECO 0000269|PubMed 20142353, ECO 0000269|PubMed 21674524, ECO 0000269|PubMed 23558838, ECO 0000269|PubMed 24561095, ECO 0000269|PubMed 26381711, ECO 0000269|PubMed 27234031, ECO 0000269|PubMed 7829078, ECO 0000269|PubMed 8220422, ECO 0000269|PubMed 8220423, ECO 0000269|PubMed 9497245}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE RYR1_HUMAN Malignant hyperthermia 1 (MHS1) [MIM 145600] Autosomal dominant pharmacogenetic disorder of skeletal muscle and is one of the main causes of death due to anesthesia. In susceptible people, an MH episode can be triggered by all commonly used inhalational anesthetics such as halothane and by depolarizing muscle relaxants such as succinylcholine. The clinical features of the myopathy are hyperthermia, accelerated muscle metabolism, contractures, metabolic acidosis, tachycardia and death, if not treated with the postsynaptic muscle relaxant, dantrolene. Susceptibility to MH can be determined with the 'in vitro' contracture test (IVCT) observing the magnitude of contractures induced in strips of muscle tissue by caffeine alone and halothane alone. Patients with normal response are MH normal (MHN), those with abnormal response to caffeine alone or halothane alone are MH equivocal (MHE(C) and MHE(H) respectively). {ECO 0000269|PubMed 10051009, ECO 0000269|PubMed 10484775, ECO 0000269|PubMed 10612851, ECO 0000269|PubMed 10823104, ECO 0000269|PubMed 10888602, ECO 0000269|PubMed 11241852, ECO 0000269|PubMed 11389482, ECO 0000269|PubMed 11525881, ECO 0000269|PubMed 11575529, ECO 0000269|PubMed 11928716, ECO 0000269|PubMed 12059893, ECO 0000269|PubMed 12066726, ECO 0000269|PubMed 12123492, ECO 0000269|PubMed 12208234, ECO 0000269|PubMed 12411788, ECO 0000269|PubMed 12709367, ECO 0000269|PubMed 12883402, ECO 0000269|PubMed 1354642, ECO 0000269|PubMed 14732627, ECO 0000269|PubMed 14985404, ECO 0000269|PubMed 15221887, ECO 0000269|PubMed 15448513, ECO 0000269|PubMed 16163667, ECO 0000269|PubMed 1774074, ECO 0000269|PubMed 19191329, ECO 0000269|PubMed 19685112, ECO 0000269|PubMed 20142353, ECO 0000269|PubMed 20681998, ECO 0000269|PubMed 23558838, ECO 0000269|PubMed 24013571, ECO 0000269|PubMed 26381711, ECO 0000269|PubMed 26631338, ECO 0000269|PubMed 7751854, ECO 0000269|PubMed 7849712, ECO 0000269|PubMed 7881417, ECO 0000269|PubMed 8012359, ECO 0000269|PubMed 9066328, ECO 0000269|PubMed 9138151, ECO 0000269|PubMed 9389851, ECO 0000269|PubMed 9450902, ECO 0000269|PubMed 9497245}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE RYR1_HUMAN Multiminicore disease with external ophthalmoplegia (MMDO) [MIM 255320] Clinically heterogeneous neuromuscular disorder. General features include neonatal hypotonia, delayed motor development, and generalized muscle weakness and amyotrophy, which may progress slowly or remain stable. Muscle biopsy shows multiple, poorly circumscribed, short areas of sarcomere disorganization and mitochondria depletion (areas termed minicores) in most muscle fibers. Typically, no dystrophic signs, such as muscle fiber necrosis or regeneration or significant endomysial fibrosis, are present in multiminicore disease. {ECO 0000269|PubMed 12719381, ECO 0000269|PubMed 16380615, ECO 0000269|PubMed 20583297}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE RYR1_HUMAN Note=Defects in RYR1 may be a cause of Samaritan myopathy, a congenital myopathy with benign course. Patients display severe hypotonia and respiratory distress at birth. Unlike other congenital myopathies, the health status constantly improves and patients are minimally affected at adulthood. # DOMAIN RYR1_HUMAN The calcium release channel activity resides in the C- terminal region while the remaining part of the protein constitutes the 'foot' structure spanning the junctional gap between the sarcoplasmic reticulum (SR) and the T-tubule. {ECO 0000250}. # DrugBank DB00201 Caffeine # DrugBank DB01219 Dantrolene # DrugBank DB04786 Suramin # Ensembl ENST00000355481 ENSP00000347667; ENSG00000196218. [P21817-2] # Ensembl ENST00000359596 ENSP00000352608; ENSG00000196218. [P21817-1] # ExpressionAtlas P21817 baseline and differential # FUNCTION RYR1_HUMAN Calcium channel that mediates the release of Ca(2+) from the sarcoplasmic reticulum into the cytoplasm and thereby plays a key role in triggering muscle contraction following depolarization of T-tubules. Repeated very high-level exercise increases the open probability of the channel and leads to Ca(2+) leaking into the cytoplasm. Can also mediate the release of Ca(2+) from intracellular stores in neurons, and may thereby promote prolonged Ca(2+) signaling in the brain. Required for normal embryonic development of muscle fibers and skeletal muscle. Required for normal heart morphogenesis, skin development and ossification during embryogenesis (By similarity). {ECO 0000250, ECO 0000269|PubMed 18268335}. # GO_component GO:0005737 cytoplasm; IDA:UniProtKB. # GO_component GO:0005790 smooth endoplasmic reticulum; TAS:ProtInc. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0005938 cell cortex; IDA:UniProtKB. # GO_component GO:0014701 junctional sarcoplasmic reticulum membrane; TAS:BHF-UCL. # GO_component GO:0014802 terminal cisterna; ISS:BHF-UCL. # GO_component GO:0016529 sarcoplasmic reticulum; ISS:BHF-UCL. # GO_component GO:0030018 Z disc; IBA:GO_Central. # GO_component GO:0030314 junctional membrane complex; IEA:Ensembl. # GO_component GO:0030315 T-tubule; IEA:Ensembl. # GO_component GO:0031674 I band; IDA:UniProtKB. # GO_component GO:0033017 sarcoplasmic reticulum membrane; ISS:UniProtKB. # GO_component GO:0034704 calcium channel complex; IBA:GO_Central. # GO_component GO:0042383 sarcolemma; IBA:GO_Central. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0005219 ryanodine-sensitive calcium-release channel activity; ISS:UniProtKB. # GO_function GO:0005245 voltage-gated calcium channel activity; ISS:UniProtKB. # GO_function GO:0005262 calcium channel activity; ISS:UniProtKB. # GO_function GO:0005509 calcium ion binding; IBA:GO_Central. # GO_function GO:0005516 calmodulin binding; ISS:BHF-UCL. # GO_function GO:0015278 calcium-release channel activity; TAS:ProtInc. # GO_function GO:0048763 calcium-induced calcium release activity; IBA:GO_Central. # GO_process GO:0001666 response to hypoxia; IDA:BHF-UCL. # GO_process GO:0003151 outflow tract morphogenesis; ISS:UniProtKB. # GO_process GO:0006816 calcium ion transport; ISS:BHF-UCL. # GO_process GO:0006936 muscle contraction; ISS:UniProtKB. # GO_process GO:0014808 release of sequestered calcium ion into cytosol by sarcoplasmic reticulum; ISS:UniProtKB. # GO_process GO:0031000 response to caffeine; ISS:BHF-UCL. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0043588 skin development; ISS:UniProtKB. # GO_process GO:0043931 ossification involved in bone maturation; ISS:UniProtKB. # GO_process GO:0048741 skeletal muscle fiber development; ISS:UniProtKB. # GO_process GO:0051209 release of sequestered calcium ion into cytosol; ISS:BHF-UCL. # GO_process GO:0051480 regulation of cytosolic calcium ion concentration; ISS:BHF-UCL. # GO_process GO:0071313 cellular response to caffeine; ISS:UniProtKB. # GO_process GO:1903779 regulation of cardiac conduction; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.10.238.10 -; 1. # Gene3D 1.25.10.30 -; 2. # Genevisible P21817 HS # HGNC HGNC:10483 RYR1 # INTERACTION RYR1_HUMAN P54296 MYOM2; NbExp=2; IntAct=EBI-1221290, EBI-5357134; # IntAct P21817 10 # InterPro IPR000699 RIH_dom # InterPro IPR001870 B30.2/SPRY # InterPro IPR002048 EF_hand_dom # InterPro IPR003032 Ryanodine_rcpt # InterPro IPR003877 SPRY_dom # InterPro IPR005821 Ion_trans_dom # InterPro IPR009460 Ryanrecept_TM4-6 # InterPro IPR011992 EF-hand-dom_pair # InterPro IPR013320 ConA-like_dom # InterPro IPR013333 Ryan_recept # InterPro IPR013662 RIH_assoc-dom # InterPro IPR014821 Ins145_P3_rcpt # InterPro IPR015925 Ryanodine_recept-rel # InterPro IPR016093 MIR_motif # InterPro IPR033215 RyR1 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02000 Transporters # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00699 [Musculoskeletal disease; Nervous system disease] Central core disease # KEGG_Disease H01310 [Musculoskeletal disease; Nervous system disease] Multicore myopathy with external ophthalmoplegia # KEGG_Pathway ko04020 Calcium signaling pathway # KEGG_Pathway ko04713 Circadian entrainment # KEGG_Pathway ko04730 Long-term depression # MIM 117000 phenotype # MIM 145600 phenotype # MIM 180901 gene # MIM 255320 phenotype # MISCELLANEOUS Channel activity is modulated by the alkaloid ryanodine that binds to the open Ca-release channel with high affinity. At low concentrations, ryanodine maintains the channel in an open conformation. High ryanodine concentrations inhibit channel activity. Channel activity is regulated by calmodulin (CALM). The calcium release is activated by increased cytoplasmic calcium levels, by nitric oxyde (NO), caffeine and ATP. Channel activity is inhibited by magnesium ions, possibly by competition for calcium binding sites (By similarity). {ECO 0000250}. # MISCELLANEOUS Coexpression of normal and mutant Thr-4898 RYR1 in a 1 1 ratio, produces RYR1 channels with normal halothane and caffeine sensitivities, but maximal levels of Ca(2+) release are reduced by 67%. Binding of [3H]ryanodine indicates that the heterozygous channel is activated by Ca(2+) concentrations 4-fold lower than normal. Single-cell analysis of cotransfected cells shows a significantly increased resting cytoplasmic Ca(2+) level and a significantly reduced luminal Ca(2+) level. These data indicated a leaky channel, possibly caused by a reduction in the Ca(2+) concentration required for channel activation. Comparison with 2 other coexpressed mutant/normal channels suggests that the Thr-4898 mutation produces one of the most abnormal RYR1 channels that has been investigated, and this level of abnormality is reflected in the severe and penetrant phenotype of affected CCD individuals. # Organism RYR1_HUMAN Homo sapiens (Human) # Orphanet 169189 Autosomal dominant centronuclear myopathy # Orphanet 178145 Moderate multiminicore disease with hand involvement # Orphanet 324581 Benign Samaritan congenital myopathy # Orphanet 423 Malignant hyperthermia # Orphanet 597 Central core disease # Orphanet 98905 Congenital multicore myopathy with external ophthalmoplegia # Orphanet 99741 King-Denborough syndrome # PANTHER PTHR13715 PTHR13715; 6 # PANTHER PTHR13715:SF15 PTHR13715:SF15; 6 # PIR A35041 A35041 # PRINTS PR00795 RYANODINER # PROSITE PS50188 B302_SPRY; 3 # PROSITE PS50919 MIR; 5 # PTM RYR1_HUMAN Activated by reversible S-nitrosylation. Repeated very high- level exercise increases S-nitrosylation. {ECO 0000269|PubMed 11562475, ECO 0000269|PubMed 18268335}. # PTM RYR1_HUMAN Channel activity is modulated by phosphorylation. Phosphorylation at Ser-2843 may increase channel activity. Repeated very high-level exercise increases phosphorylation at Ser-2843. {ECO 0000269|PubMed 18268335}. # Pfam PF00520 Ion_trans # Pfam PF00622 SPRY; 3 # Pfam PF01365 RYDR_ITPR; 2 # Pfam PF02026 RyR; 4 # Pfam PF02815 MIR # Pfam PF06459 RR_TM4-6 # Pfam PF08454 RIH_assoc # Pfam PF08709 Ins145_P3_rec # Pfam PF13833 EF-hand_8 # Proteomes UP000005640 Chromosome 19 # Reactome R-HSA-2672351 Stimuli-sensing channels # Reactome R-HSA-5578775 Ion homeostasis # RecName RYR1_HUMAN Ryanodine receptor 1 # RefSeq NP_000531 NM_000540.2. [P21817-1] # RefSeq NP_001036188 NM_001042723.1. [P21817-2] # SIMILARITY Belongs to the ryanodine receptor (TC 1.A.3.1) family. RYR1 subfamily. {ECO 0000305}. # SIMILARITY Contains 3 B30.2/SPRY domains. {ECO:0000255|PROSITE- ProRule PRU00548}. # SIMILARITY Contains 5 MIR domains. {ECO:0000255|PROSITE- ProRule PRU00131}. # SMART SM00449 SPRY; 3 # SMART SM00472 MIR; 4 # SUBCELLULAR LOCATION RYR1_HUMAN Sarcoplasmic reticulum membrane; Multi-pass membrane protein. Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. Sarcoplasmic reticulum {ECO 0000250|UniProtKB P11716}. Note=The number of predicted transmembrane domains varies between orthologs, but both N- terminus and C-terminus seem to be cytoplasmic. # SUBUNIT RYR1_HUMAN Homotetramer. Can also form heterotetramers with RYR2. Interacts with CALM; CALM with bound calcium inhibits the RYR1 channel activity. Interacts with S100A1. Interacts with FKBP1A; this stabilizes the closed conformation of the channel. Interacts with CACNA1S; interaction with CACNA1S is important for activation of the RYR1 channel. Interacts with CACNB1. Interacts with TRDN and ASPH; these interactions stimulate RYR1 channel activity (By similarity). Identified in a complex composed of RYR1, PDE4D, PKA, FKBP1A and protein phosphatase 1 (PP1). Repeated very high-level exercise decreases interaction with PDE4D and protein phosphatase 1 (PP1). Interacts with SEPN1 (By similarity). {ECO 0000250|UniProtKB P11716, ECO 0000269|PubMed 18268335, ECO 0000269|PubMed 18650434}. # SUPFAM SSF100909 SSF100909; 2 # SUPFAM SSF47473 SSF47473 # SUPFAM SSF49899 SSF49899; 2 # SUPFAM SSF82109 SSF82109; 2 # TCDB 1.A.3.1 the ryanodine-inositol 1,4,5-triphosphate receptor ca(2+) channel (rir-cac) family # TISSUE SPECIFICITY Skeletal muscle and brain (cerebellum and hippocampus). {ECO:0000269|PubMed 9607712}. # UCSC uc002oit human. [P21817-1] # WEB RESOURCE RYR1_HUMAN Name=Leiden Muscular Dystrophy pages Ryanodine receptor 1 (skeletal) (RYR1); Note=Leiden Open Variation Database (LOVD); URL="http //www.dmd.nl/nmdb2/home.php?select_db=RYR1"; # WEB RESOURCE RYR1_HUMAN Name=Wikipedia; Note=RYR1 entry; URL="http //en.wikipedia.org/wiki/RYR1"; # WEB RESOURCE RYR1_HUMAN Name=Wikipedia; Note=Ryanodine receptor entry; URL="https //en.wikipedia.org/wiki/Ryanodine_receptor"; # eggNOG ENOG410YCNW LUCA # eggNOG KOG2243 Eukaryota BLAST swissprot:RYR1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:RYR1_HUMAN BioCyc ZFISH:G66-31185-MONOMER http://biocyc.org/getid?id=ZFISH:G66-31185-MONOMER COXPRESdb 6261 http://coxpresdb.jp/data/gene/6261.shtml CleanEx HS_RYR1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_RYR1 DIP DIP-29708N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-29708N DOI 10.1001/archneur.61.1.106 http://dx.doi.org/10.1001/archneur.61.1.106 DOI 10.1002/(SICI)1098-1004(1998)11:1<45::AID-HUMU7>3.3.CO http://dx.doi.org/10.1002/(SICI)1098-1004(1998)11:1<45::AID-HUMU7>3.3.CO DOI 10.1002/(SICI)1098-1004(200001)15:1<122::AID-HUMU40>3.0.CO http://dx.doi.org/10.1002/(SICI)1098-1004(200001)15:1<122::AID-HUMU40>3.0.CO DOI 10.1002/ana.10231 http://dx.doi.org/10.1002/ana.10231 DOI 10.1002/humu.15 http://dx.doi.org/10.1002/humu.15 DOI 10.1002/humu.20231 http://dx.doi.org/10.1002/humu.20231 DOI 10.1002/humu.20696 http://dx.doi.org/10.1002/humu.20696 DOI 10.1002/humu.20878 http://dx.doi.org/10.1002/humu.20878 DOI 10.1002/humu.21278 http://dx.doi.org/10.1002/humu.21278 DOI 10.1002/mus.20068 http://dx.doi.org/10.1002/mus.20068 DOI 10.1002/mus.20715 http://dx.doi.org/10.1002/mus.20715 DOI 10.1002/mus.22009 http://dx.doi.org/10.1002/mus.22009 DOI 10.1002/pmic.200700884 http://dx.doi.org/10.1002/pmic.200700884 DOI 10.1006/geno.1994.1483 http://dx.doi.org/10.1006/geno.1994.1483 DOI 10.1006/geno.1996.0238 http://dx.doi.org/10.1006/geno.1996.0238 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10.1213/ANE.0000000000000886 http://dx.doi.org/10.1213/ANE.0000000000000886 DOI 10.1213/ANE.0b013e3181cbd815 http://dx.doi.org/10.1213/ANE.0b013e3181cbd815 DOI 10.1213/ANE.0b013e31828a71ff http://dx.doi.org/10.1213/ANE.0b013e31828a71ff DOI 10.1254/jjp.88.159 http://dx.doi.org/10.1254/jjp.88.159 DOI 10.1373/49.5.761 http://dx.doi.org/10.1373/49.5.761 DrugBank DB00201 http://www.drugbank.ca/drugs/DB00201 DrugBank DB01219 http://www.drugbank.ca/drugs/DB01219 DrugBank DB04786 http://www.drugbank.ca/drugs/DB04786 EMBL AC005933 http://www.ebi.ac.uk/ena/data/view/AC005933 EMBL AC011469 http://www.ebi.ac.uk/ena/data/view/AC011469 EMBL AC067969 http://www.ebi.ac.uk/ena/data/view/AC067969 EMBL J05200 http://www.ebi.ac.uk/ena/data/view/J05200 EMBL M91455 http://www.ebi.ac.uk/ena/data/view/M91455 EMBL S77392 http://www.ebi.ac.uk/ena/data/view/S77392 EMBL S78717 http://www.ebi.ac.uk/ena/data/view/S78717 EMBL U48449 http://www.ebi.ac.uk/ena/data/view/U48449 EMBL U48450 http://www.ebi.ac.uk/ena/data/view/U48450 EMBL U48451 http://www.ebi.ac.uk/ena/data/view/U48451 EMBL U48452 http://www.ebi.ac.uk/ena/data/view/U48452 EMBL U48453 http://www.ebi.ac.uk/ena/data/view/U48453 EMBL U48454 http://www.ebi.ac.uk/ena/data/view/U48454 EMBL U48455 http://www.ebi.ac.uk/ena/data/view/U48455 EMBL U48456 http://www.ebi.ac.uk/ena/data/view/U48456 EMBL U48457 http://www.ebi.ac.uk/ena/data/view/U48457 EMBL U48458 http://www.ebi.ac.uk/ena/data/view/U48458 EMBL U48459 http://www.ebi.ac.uk/ena/data/view/U48459 EMBL U48460 http://www.ebi.ac.uk/ena/data/view/U48460 EMBL U48461 http://www.ebi.ac.uk/ena/data/view/U48461 EMBL U48462 http://www.ebi.ac.uk/ena/data/view/U48462 EMBL U48463 http://www.ebi.ac.uk/ena/data/view/U48463 EMBL U48464 http://www.ebi.ac.uk/ena/data/view/U48464 EMBL U48465 http://www.ebi.ac.uk/ena/data/view/U48465 EMBL U48466 http://www.ebi.ac.uk/ena/data/view/U48466 EMBL U48467 http://www.ebi.ac.uk/ena/data/view/U48467 EMBL U48468 http://www.ebi.ac.uk/ena/data/view/U48468 EMBL U48469 http://www.ebi.ac.uk/ena/data/view/U48469 EMBL U48470 http://www.ebi.ac.uk/ena/data/view/U48470 EMBL U48471 http://www.ebi.ac.uk/ena/data/view/U48471 EMBL U48472 http://www.ebi.ac.uk/ena/data/view/U48472 EMBL U48473 http://www.ebi.ac.uk/ena/data/view/U48473 EMBL U48474 http://www.ebi.ac.uk/ena/data/view/U48474 EMBL U48475 http://www.ebi.ac.uk/ena/data/view/U48475 EMBL U48476 http://www.ebi.ac.uk/ena/data/view/U48476 EMBL U48477 http://www.ebi.ac.uk/ena/data/view/U48477 EMBL U48478 http://www.ebi.ac.uk/ena/data/view/U48478 EMBL U48479 http://www.ebi.ac.uk/ena/data/view/U48479 EMBL U48480 http://www.ebi.ac.uk/ena/data/view/U48480 EMBL U48481 http://www.ebi.ac.uk/ena/data/view/U48481 EMBL U48482 http://www.ebi.ac.uk/ena/data/view/U48482 EMBL U48483 http://www.ebi.ac.uk/ena/data/view/U48483 EMBL U48484 http://www.ebi.ac.uk/ena/data/view/U48484 EMBL U48485 http://www.ebi.ac.uk/ena/data/view/U48485 EMBL U48486 http://www.ebi.ac.uk/ena/data/view/U48486 EMBL U48487 http://www.ebi.ac.uk/ena/data/view/U48487 EMBL U48488 http://www.ebi.ac.uk/ena/data/view/U48488 EMBL U48489 http://www.ebi.ac.uk/ena/data/view/U48489 EMBL U48490 http://www.ebi.ac.uk/ena/data/view/U48490 EMBL U48491 http://www.ebi.ac.uk/ena/data/view/U48491 EMBL U48492 http://www.ebi.ac.uk/ena/data/view/U48492 EMBL U48493 http://www.ebi.ac.uk/ena/data/view/U48493 EMBL U48494 http://www.ebi.ac.uk/ena/data/view/U48494 EMBL U48495 http://www.ebi.ac.uk/ena/data/view/U48495 EMBL U48496 http://www.ebi.ac.uk/ena/data/view/U48496 EMBL U48497 http://www.ebi.ac.uk/ena/data/view/U48497 EMBL U48498 http://www.ebi.ac.uk/ena/data/view/U48498 EMBL U48499 http://www.ebi.ac.uk/ena/data/view/U48499 EMBL U48500 http://www.ebi.ac.uk/ena/data/view/U48500 EMBL U48501 http://www.ebi.ac.uk/ena/data/view/U48501 EMBL U48502 http://www.ebi.ac.uk/ena/data/view/U48502 EMBL U48503 http://www.ebi.ac.uk/ena/data/view/U48503 EMBL U48504 http://www.ebi.ac.uk/ena/data/view/U48504 EMBL U48505 http://www.ebi.ac.uk/ena/data/view/U48505 EMBL U48506 http://www.ebi.ac.uk/ena/data/view/U48506 EMBL U48507 http://www.ebi.ac.uk/ena/data/view/U48507 EMBL U48508 http://www.ebi.ac.uk/ena/data/view/U48508 Ensembl ENST00000355481 http://www.ensembl.org/id/ENST00000355481 Ensembl ENST00000359596 http://www.ensembl.org/id/ENST00000359596 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005790 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005790 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0005938 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005938 GO_component GO:0014701 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014701 GO_component GO:0014802 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014802 GO_component GO:0016529 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016529 GO_component GO:0030018 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030018 GO_component GO:0030314 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030314 GO_component GO:0030315 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030315 GO_component GO:0031674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031674 GO_component GO:0033017 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033017 GO_component GO:0034704 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034704 GO_component GO:0042383 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042383 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0005219 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005219 GO_function GO:0005245 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005245 GO_function GO:0005262 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005262 GO_function GO:0005509 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005509 GO_function GO:0005516 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005516 GO_function GO:0015278 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015278 GO_function GO:0048763 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048763 GO_process GO:0001666 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001666 GO_process GO:0003151 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003151 GO_process GO:0006816 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006816 GO_process GO:0006936 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006936 GO_process GO:0014808 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014808 GO_process GO:0031000 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031000 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0043588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043588 GO_process GO:0043931 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043931 GO_process GO:0048741 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048741 GO_process GO:0051209 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051209 GO_process GO:0051480 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051480 GO_process GO:0071313 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071313 GO_process GO:1903779 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903779 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.10.238.10 http://www.cathdb.info/version/latest/superfamily/1.10.238.10 Gene3D 1.25.10.30 http://www.cathdb.info/version/latest/superfamily/1.25.10.30 GeneCards RYR1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=RYR1 GeneID 6261 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6261 GeneTree ENSGT00760000119152 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119152 H-InvDB HIX0039957 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0039957 HGNC HGNC:10483 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10483 HOGENOM HOG000231428 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231428&db=HOGENOM6 HOVERGEN HBG006699 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG006699&db=HOVERGEN HPA HPA056416 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA056416 InParanoid P21817 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P21817 IntAct P21817 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P21817* InterPro IPR000699 http://www.ebi.ac.uk/interpro/entry/IPR000699 InterPro IPR001870 http://www.ebi.ac.uk/interpro/entry/IPR001870 InterPro IPR002048 http://www.ebi.ac.uk/interpro/entry/IPR002048 InterPro IPR003032 http://www.ebi.ac.uk/interpro/entry/IPR003032 InterPro IPR003877 http://www.ebi.ac.uk/interpro/entry/IPR003877 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR009460 http://www.ebi.ac.uk/interpro/entry/IPR009460 InterPro IPR011992 http://www.ebi.ac.uk/interpro/entry/IPR011992 InterPro IPR013320 http://www.ebi.ac.uk/interpro/entry/IPR013320 InterPro IPR013333 http://www.ebi.ac.uk/interpro/entry/IPR013333 InterPro IPR013662 http://www.ebi.ac.uk/interpro/entry/IPR013662 InterPro IPR014821 http://www.ebi.ac.uk/interpro/entry/IPR014821 InterPro IPR015925 http://www.ebi.ac.uk/interpro/entry/IPR015925 InterPro IPR016093 http://www.ebi.ac.uk/interpro/entry/IPR016093 InterPro IPR033215 http://www.ebi.ac.uk/interpro/entry/IPR033215 Jabion 6261 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6261 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00699 http://www.genome.jp/dbget-bin/www_bget?H00699 KEGG_Disease H01310 http://www.genome.jp/dbget-bin/www_bget?H01310 KEGG_Gene hsa:6261 http://www.genome.jp/dbget-bin/www_bget?hsa:6261 KEGG_Orthology KO:K04961 http://www.genome.jp/dbget-bin/www_bget?KO:K04961 KEGG_Pathway ko04020 http://www.genome.jp/kegg-bin/show_pathway?ko04020 KEGG_Pathway ko04713 http://www.genome.jp/kegg-bin/show_pathway?ko04713 KEGG_Pathway ko04730 http://www.genome.jp/kegg-bin/show_pathway?ko04730 MIM 117000 http://www.ncbi.nlm.nih.gov/omim/117000 MIM 145600 http://www.ncbi.nlm.nih.gov/omim/145600 MIM 180901 http://www.ncbi.nlm.nih.gov/omim/180901 MIM 255320 http://www.ncbi.nlm.nih.gov/omim/255320 MINT MINT-1605046 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1605046 OMA WSYSAVQ http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=WSYSAVQ Orphanet 169189 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=169189 Orphanet 178145 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=178145 Orphanet 324581 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=324581 Orphanet 423 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=423 Orphanet 597 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=597 Orphanet 98905 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=98905 Orphanet 99741 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=99741 OrthoDB EOG091G00T0 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G00T0 PANTHER PTHR13715 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR13715 PANTHER PTHR13715:SF15 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR13715:SF15 PRINTS PR00795 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00795 PROSITE PS50188 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50188 PROSITE PS50919 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50919 PSORT swissprot:RYR1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:RYR1_HUMAN PSORT-B swissprot:RYR1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:RYR1_HUMAN PSORT2 swissprot:RYR1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:RYR1_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF00622 http://pfam.xfam.org/family/PF00622 Pfam PF01365 http://pfam.xfam.org/family/PF01365 Pfam PF02026 http://pfam.xfam.org/family/PF02026 Pfam PF02815 http://pfam.xfam.org/family/PF02815 Pfam PF06459 http://pfam.xfam.org/family/PF06459 Pfam PF08454 http://pfam.xfam.org/family/PF08454 Pfam PF08709 http://pfam.xfam.org/family/PF08709 Pfam PF13833 http://pfam.xfam.org/family/PF13833 PharmGKB PA34896 http://www.pharmgkb.org/do/serve?objId=PA34896&objCls=Gene Phobius swissprot:RYR1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:RYR1_HUMAN PhylomeDB P21817 http://phylomedb.org/?seqid=P21817 ProteinModelPortal P21817 http://www.proteinmodelportal.org/query/uniprot/P21817 PubMed 10051009 http://www.ncbi.nlm.nih.gov/pubmed/10051009 PubMed 10097181 http://www.ncbi.nlm.nih.gov/pubmed/10097181 PubMed 10484775 http://www.ncbi.nlm.nih.gov/pubmed/10484775 PubMed 10612851 http://www.ncbi.nlm.nih.gov/pubmed/10612851 PubMed 10823104 http://www.ncbi.nlm.nih.gov/pubmed/10823104 PubMed 10888602 http://www.ncbi.nlm.nih.gov/pubmed/10888602 PubMed 11113224 http://www.ncbi.nlm.nih.gov/pubmed/11113224 PubMed 11241852 http://www.ncbi.nlm.nih.gov/pubmed/11241852 PubMed 11389482 http://www.ncbi.nlm.nih.gov/pubmed/11389482 PubMed 11525881 http://www.ncbi.nlm.nih.gov/pubmed/11525881 PubMed 11562475 http://www.ncbi.nlm.nih.gov/pubmed/11562475 PubMed 11575529 http://www.ncbi.nlm.nih.gov/pubmed/11575529 PubMed 11709545 http://www.ncbi.nlm.nih.gov/pubmed/11709545 PubMed 11741831 http://www.ncbi.nlm.nih.gov/pubmed/11741831 PubMed 11928716 http://www.ncbi.nlm.nih.gov/pubmed/11928716 PubMed 12059893 http://www.ncbi.nlm.nih.gov/pubmed/12059893 PubMed 12066726 http://www.ncbi.nlm.nih.gov/pubmed/12066726 PubMed 12112081 http://www.ncbi.nlm.nih.gov/pubmed/12112081 PubMed 12123492 http://www.ncbi.nlm.nih.gov/pubmed/12123492 PubMed 12136074 http://www.ncbi.nlm.nih.gov/pubmed/12136074 PubMed 12208234 http://www.ncbi.nlm.nih.gov/pubmed/12208234 PubMed 12411788 http://www.ncbi.nlm.nih.gov/pubmed/12411788 PubMed 12565913 http://www.ncbi.nlm.nih.gov/pubmed/12565913 PubMed 12566385 http://www.ncbi.nlm.nih.gov/pubmed/12566385 PubMed 12709367 http://www.ncbi.nlm.nih.gov/pubmed/12709367 PubMed 12719381 http://www.ncbi.nlm.nih.gov/pubmed/12719381 PubMed 12883402 http://www.ncbi.nlm.nih.gov/pubmed/12883402 PubMed 12937085 http://www.ncbi.nlm.nih.gov/pubmed/12937085 PubMed 1354642 http://www.ncbi.nlm.nih.gov/pubmed/1354642 PubMed 14670767 http://www.ncbi.nlm.nih.gov/pubmed/14670767 PubMed 14732627 http://www.ncbi.nlm.nih.gov/pubmed/14732627 PubMed 14985404 http://www.ncbi.nlm.nih.gov/pubmed/14985404 PubMed 15057824 http://www.ncbi.nlm.nih.gov/pubmed/15057824 PubMed 15221887 http://www.ncbi.nlm.nih.gov/pubmed/15221887 PubMed 15448513 http://www.ncbi.nlm.nih.gov/pubmed/15448513 PubMed 16163667 http://www.ncbi.nlm.nih.gov/pubmed/16163667 PubMed 16380615 http://www.ncbi.nlm.nih.gov/pubmed/16380615 PubMed 1639409 http://www.ncbi.nlm.nih.gov/pubmed/1639409 PubMed 17204054 http://www.ncbi.nlm.nih.gov/pubmed/17204054 PubMed 17226826 http://www.ncbi.nlm.nih.gov/pubmed/17226826 PubMed 1774074 http://www.ncbi.nlm.nih.gov/pubmed/1774074 PubMed 18253926 http://www.ncbi.nlm.nih.gov/pubmed/18253926 PubMed 18268335 http://www.ncbi.nlm.nih.gov/pubmed/18268335 PubMed 18312400 http://www.ncbi.nlm.nih.gov/pubmed/18312400 PubMed 18318008 http://www.ncbi.nlm.nih.gov/pubmed/18318008 PubMed 18650434 http://www.ncbi.nlm.nih.gov/pubmed/18650434 PubMed 19191329 http://www.ncbi.nlm.nih.gov/pubmed/19191329 PubMed 19685112 http://www.ncbi.nlm.nih.gov/pubmed/19685112 PubMed 20142353 http://www.ncbi.nlm.nih.gov/pubmed/20142353 PubMed 20583297 http://www.ncbi.nlm.nih.gov/pubmed/20583297 PubMed 20681998 http://www.ncbi.nlm.nih.gov/pubmed/20681998 PubMed 20961976 http://www.ncbi.nlm.nih.gov/pubmed/20961976 PubMed 21674524 http://www.ncbi.nlm.nih.gov/pubmed/21674524 PubMed 22752422 http://www.ncbi.nlm.nih.gov/pubmed/22752422 PubMed 2298749 http://www.ncbi.nlm.nih.gov/pubmed/2298749 PubMed 23558838 http://www.ncbi.nlm.nih.gov/pubmed/23558838 PubMed 24013571 http://www.ncbi.nlm.nih.gov/pubmed/24013571 PubMed 24561095 http://www.ncbi.nlm.nih.gov/pubmed/24561095 PubMed 26381711 http://www.ncbi.nlm.nih.gov/pubmed/26381711 PubMed 26631338 http://www.ncbi.nlm.nih.gov/pubmed/26631338 PubMed 27234031 http://www.ncbi.nlm.nih.gov/pubmed/27234031 PubMed 7556644 http://www.ncbi.nlm.nih.gov/pubmed/7556644 PubMed 7751854 http://www.ncbi.nlm.nih.gov/pubmed/7751854 PubMed 7829078 http://www.ncbi.nlm.nih.gov/pubmed/7829078 PubMed 7849712 http://www.ncbi.nlm.nih.gov/pubmed/7849712 PubMed 7881417 http://www.ncbi.nlm.nih.gov/pubmed/7881417 PubMed 8012359 http://www.ncbi.nlm.nih.gov/pubmed/8012359 PubMed 8220422 http://www.ncbi.nlm.nih.gov/pubmed/8220422 PubMed 8220423 http://www.ncbi.nlm.nih.gov/pubmed/8220423 PubMed 8661021 http://www.ncbi.nlm.nih.gov/pubmed/8661021 PubMed 9066328 http://www.ncbi.nlm.nih.gov/pubmed/9066328 PubMed 9138151 http://www.ncbi.nlm.nih.gov/pubmed/9138151 PubMed 9389851 http://www.ncbi.nlm.nih.gov/pubmed/9389851 PubMed 9450902 http://www.ncbi.nlm.nih.gov/pubmed/9450902 PubMed 9497245 http://www.ncbi.nlm.nih.gov/pubmed/9497245 PubMed 9607712 http://www.ncbi.nlm.nih.gov/pubmed/9607712 Reactome R-HSA-2672351 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2672351 Reactome R-HSA-5578775 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5578775 RefSeq NP_000531 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000531 RefSeq NP_001036188 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001036188 SMART SM00449 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00449 SMART SM00472 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00472 STRING 9606.ENSP00000352608 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000352608&targetmode=cogs SUPFAM SSF100909 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF100909 SUPFAM SSF47473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF47473 SUPFAM SSF49899 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF49899 SUPFAM SSF82109 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF82109 TCDB 1.A.3.1 http://www.tcdb.org/search/result.php?tc=1.A.3.1 UCSC uc002oit http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002oit&org=rat UniGene Hs.466664 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.466664 UniProtKB RYR1_HUMAN http://www.uniprot.org/uniprot/RYR1_HUMAN UniProtKB-AC P21817 http://www.uniprot.org/uniprot/P21817 charge swissprot:RYR1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:RYR1_HUMAN eggNOG ENOG410YCNW http://eggnogapi.embl.de/nog_data/html/tree/ENOG410YCNW eggNOG KOG2243 http://eggnogapi.embl.de/nog_data/html/tree/KOG2243 epestfind swissprot:RYR1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:RYR1_HUMAN garnier swissprot:RYR1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:RYR1_HUMAN helixturnhelix swissprot:RYR1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:RYR1_HUMAN hmoment swissprot:RYR1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:RYR1_HUMAN iep swissprot:RYR1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:RYR1_HUMAN inforesidue swissprot:RYR1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:RYR1_HUMAN neXtProt NX_P21817 http://www.nextprot.org/db/entry/NX_P21817 octanol swissprot:RYR1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:RYR1_HUMAN pepcoil swissprot:RYR1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:RYR1_HUMAN pepdigest swissprot:RYR1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:RYR1_HUMAN pepinfo swissprot:RYR1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:RYR1_HUMAN pepnet swissprot:RYR1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:RYR1_HUMAN pepstats swissprot:RYR1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:RYR1_HUMAN pepwheel swissprot:RYR1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:RYR1_HUMAN pepwindow swissprot:RYR1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:RYR1_HUMAN sigcleave swissprot:RYR1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:RYR1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S28A1_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O00337-1; Sequence=Displayed; Name=2; IsoId=O00337-2; Sequence=VSP_037221, VSP_037222; # AltName S28A1_HUMAN Concentrative nucleoside transporter 1 # AltName S28A1_HUMAN Na(+)/nucleoside cotransporter 1 # AltName S28A1_HUMAN Sodium-coupled nucleoside transporter 1 # AltName S28A1_HUMAN Solute carrier family 28 member 1 # CCDS CCDS10334 -. [O00337-1] # CCDS CCDS10335 -. [O00337-2] # ChiTaRS SLC28A1 human # DrugBank DB00441 Gemcitabine # DrugBank DB00495 Zidovudine # DrugBank DB00649 Stavudine # Ensembl ENST00000286749 ENSP00000286749; ENSG00000156222. [O00337-1] # Ensembl ENST00000338602 ENSP00000341629; ENSG00000156222. [O00337-2] # Ensembl ENST00000394573 ENSP00000378074; ENSG00000156222. [O00337-1] # ExpressionAtlas O00337 baseline and differential # FUNCTION S28A1_HUMAN Sodium-dependent and pyrimidine-selective. Exhibits the transport characteristics of the nucleoside transport system cit or N2 subtype (N2/cit) (selective for pyrimidine nucleosides and adenosine). It also transports the antiviral pyrimidine nucleoside analogs 3'-azido-3'-deoxythymidine (AZT) and 2',3'-dideoxycytidine (ddC). It may be involved in the intestinal absorption and renal handling of pyrimidine nucleoside analogs used to treat acquired immunodeficiency syndrome (AIDS). It has the following selective inhibition adenosine, thymidine, cytidine, uridine >> guanosine, inosine. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0016020 membrane; TAS:ProtInc. # GO_function GO:0005337 nucleoside transmembrane transporter activity; TAS:ProtInc. # GO_function S28A1_HUMAN GO 0005415 nucleoside sodium symporter activity; TAS Reactome. # GO_function S28A1_HUMAN GO 0015389 pyrimidine- and adenine-specific sodium symporter activity; IBA GO_Central. # GO_process GO:0006139 nucleobase-containing compound metabolic process; TAS:ProtInc. # GO_process GO:0015858 nucleoside transport; TAS:ProtInc. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # Genevisible O00337 HS # HGNC HGNC:11001 SLC28A1 # InterPro IPR002668 CNT_N_dom # InterPro IPR008276 C_nuclsd_transpt # InterPro IPR011642 Gate_dom # InterPro IPR011657 CNT_C_dom # InterPro IPR018270 C_nuclsd_transpt_met_bac # KEGG_Brite ko02001 Solute carrier family # MIM 606207 gene # Organism S28A1_HUMAN Homo sapiens (Human) # PANTHER PTHR10590 PTHR10590 # POLYMORPHISM S28A1_HUMAN Three variant forms of isoform 1 (A, B and C) are expressed in the kidney. All three variant forms have similar nucleoside transport activity. # Pfam PF01773 Nucleos_tra2_N # Pfam PF07662 Nucleos_tra2_C # Pfam PF07670 Gate # Proteomes UP000005640 Chromosome 15 # Reactome R-HSA-83936 Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane # RecName S28A1_HUMAN Sodium/nucleoside cotransporter 1 # RefSeq NP_001274691 NM_001287762.1. [O00337-1] # RefSeq NP_004204 NM_004213.4. [O00337-1] # RefSeq NP_964014 NM_201651.2. [O00337-2] # SIMILARITY Belongs to the concentrative nucleoside transporter (CNT) (TC 2.A.41) family. {ECO 0000305}. # SUBCELLULAR LOCATION S28A1_HUMAN Cell membrane; Multi-pass membrane protein. # TCDB 2.A.41.2 the concentrative nucleoside transporter (cnt) family # TIGRFAMs TIGR00804 nupC # TISSUE SPECIFICITY S28A1_HUMAN Expressed in kidney. # UCSC uc002blf human. [O00337-1] # eggNOG COG1972 LUCA # eggNOG KOG3747 Eukaryota BLAST swissprot:S28A1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S28A1_HUMAN BioCyc ZFISH:ENSG00000156222-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000156222-MONOMER COXPRESdb 9154 http://coxpresdb.jp/data/gene/9154.shtml CleanEx HS_SLC28A1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC28A1 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1038/nature04601 http://dx.doi.org/10.1038/nature04601 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.274.35.24475 http://dx.doi.org/10.1074/jbc.274.35.24475 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DrugBank DB00441 http://www.drugbank.ca/drugs/DB00441 DrugBank DB00495 http://www.drugbank.ca/drugs/DB00495 DrugBank DB00649 http://www.drugbank.ca/drugs/DB00649 EMBL AC087468 http://www.ebi.ac.uk/ena/data/view/AC087468 EMBL AC103741 http://www.ebi.ac.uk/ena/data/view/AC103741 EMBL AF187969 http://www.ebi.ac.uk/ena/data/view/AF187969 EMBL AF187970 http://www.ebi.ac.uk/ena/data/view/AF187970 EMBL AF187971 http://www.ebi.ac.uk/ena/data/view/AF187971 EMBL AF187972 http://www.ebi.ac.uk/ena/data/view/AF187972 EMBL AF187973 http://www.ebi.ac.uk/ena/data/view/AF187973 EMBL AF187974 http://www.ebi.ac.uk/ena/data/view/AF187974 EMBL AF187975 http://www.ebi.ac.uk/ena/data/view/AF187975 EMBL AF187976 http://www.ebi.ac.uk/ena/data/view/AF187976 EMBL AF187977 http://www.ebi.ac.uk/ena/data/view/AF187977 EMBL AF187978 http://www.ebi.ac.uk/ena/data/view/AF187978 EMBL AK291997 http://www.ebi.ac.uk/ena/data/view/AK291997 EMBL BC029788 http://www.ebi.ac.uk/ena/data/view/BC029788 EMBL BC039898 http://www.ebi.ac.uk/ena/data/view/BC039898 EMBL BC126204 http://www.ebi.ac.uk/ena/data/view/BC126204 EMBL BC126206 http://www.ebi.ac.uk/ena/data/view/BC126206 EMBL U62966 http://www.ebi.ac.uk/ena/data/view/U62966 EMBL U62967 http://www.ebi.ac.uk/ena/data/view/U62967 EMBL U62968 http://www.ebi.ac.uk/ena/data/view/U62968 Ensembl ENST00000286749 http://www.ensembl.org/id/ENST00000286749 Ensembl ENST00000338602 http://www.ensembl.org/id/ENST00000338602 Ensembl ENST00000394573 http://www.ensembl.org/id/ENST00000394573 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_function GO:0005337 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005337 GO_function GO:0005415 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005415 GO_function GO:0015389 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015389 GO_process GO:0006139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006139 GO_process GO:0015858 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015858 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GeneCards SLC28A1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC28A1 GeneID 9154 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=9154 GeneTree ENSGT00390000016025 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000016025 HGNC HGNC:11001 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11001 HOVERGEN HBG054073 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG054073&db=HOVERGEN HPA HPA019551 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA019551 InParanoid O00337 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O00337 InterPro IPR002668 http://www.ebi.ac.uk/interpro/entry/IPR002668 InterPro IPR008276 http://www.ebi.ac.uk/interpro/entry/IPR008276 InterPro IPR011642 http://www.ebi.ac.uk/interpro/entry/IPR011642 InterPro IPR011657 http://www.ebi.ac.uk/interpro/entry/IPR011657 InterPro IPR018270 http://www.ebi.ac.uk/interpro/entry/IPR018270 Jabion 9154 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=9154 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:9154 http://www.genome.jp/dbget-bin/www_bget?hsa:9154 KEGG_Orthology KO:K11536 http://www.genome.jp/dbget-bin/www_bget?KO:K11536 MIM 606207 http://www.ncbi.nlm.nih.gov/omim/606207 OMA SEICAIM http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=SEICAIM OrthoDB EOG091G05D5 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G05D5 PANTHER PTHR10590 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10590 PSORT swissprot:S28A1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S28A1_HUMAN PSORT-B swissprot:S28A1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S28A1_HUMAN PSORT2 swissprot:S28A1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S28A1_HUMAN Pfam PF01773 http://pfam.xfam.org/family/PF01773 Pfam PF07662 http://pfam.xfam.org/family/PF07662 Pfam PF07670 http://pfam.xfam.org/family/PF07670 PharmGKB PA387 http://www.pharmgkb.org/do/serve?objId=PA387&objCls=Gene Phobius swissprot:S28A1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S28A1_HUMAN PhylomeDB O00337 http://phylomedb.org/?seqid=O00337 ProteinModelPortal O00337 http://www.proteinmodelportal.org/query/uniprot/O00337 PubMed 10455109 http://www.ncbi.nlm.nih.gov/pubmed/10455109 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16572171 http://www.ncbi.nlm.nih.gov/pubmed/16572171 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 9124315 http://www.ncbi.nlm.nih.gov/pubmed/9124315 Reactome R-HSA-83936 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-83936 RefSeq NP_001274691 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001274691 RefSeq NP_004204 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004204 RefSeq NP_964014 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_964014 SMR O00337 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=O00337 STRING 9606.ENSP00000286749 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000286749&targetmode=cogs TCDB 2.A.41.2 http://www.tcdb.org/search/result.php?tc=2.A.41.2 TIGRFAMs TIGR00804 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00804 UCSC uc002blf http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002blf&org=rat UniGene Hs.459187 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.459187 UniProtKB S28A1_HUMAN http://www.uniprot.org/uniprot/S28A1_HUMAN UniProtKB-AC O00337 http://www.uniprot.org/uniprot/O00337 charge swissprot:S28A1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S28A1_HUMAN eggNOG COG1972 http://eggnogapi.embl.de/nog_data/html/tree/COG1972 eggNOG KOG3747 http://eggnogapi.embl.de/nog_data/html/tree/KOG3747 epestfind swissprot:S28A1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S28A1_HUMAN garnier swissprot:S28A1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S28A1_HUMAN helixturnhelix swissprot:S28A1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S28A1_HUMAN hmoment swissprot:S28A1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S28A1_HUMAN iep swissprot:S28A1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S28A1_HUMAN inforesidue swissprot:S28A1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S28A1_HUMAN neXtProt NX_O00337 http://www.nextprot.org/db/entry/NX_O00337 octanol swissprot:S28A1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S28A1_HUMAN pepcoil swissprot:S28A1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S28A1_HUMAN pepdigest swissprot:S28A1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S28A1_HUMAN pepinfo swissprot:S28A1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S28A1_HUMAN pepnet swissprot:S28A1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S28A1_HUMAN pepstats swissprot:S28A1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S28A1_HUMAN pepwheel swissprot:S28A1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S28A1_HUMAN pepwindow swissprot:S28A1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S28A1_HUMAN sigcleave swissprot:S28A1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S28A1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS GRIK3_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q13003-1; Sequence=Displayed; Name=2; IsoId=Q13003-2; Sequence=VSP_056588; # AltName GRIK3_HUMAN Excitatory amino acid receptor 5 # AltName GRIK3_HUMAN Glutamate receptor 7 # BioGrid 109156 2 # CCDS CCDS416 -. [Q13003-1] # ChiTaRS GRIK3 human # Ensembl ENST00000373091 ENSP00000362183; ENSG00000163873. [Q13003-1] # Ensembl ENST00000373093 ENSP00000362185; ENSG00000163873. [Q13003-2] # FUNCTION GRIK3_HUMAN Receptor for glutamate that functions as ligand-gated ion channel in the central nervous system and plays an important role in excitatory synaptic transmission. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. The postsynaptic actions of Glu are mediated by a variety of receptors that are named according to their selective agonists. This receptor binds domoate > kainate >> L-glutamate = quisqualate >> AMPA = NMDA. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IDA:UniProtKB. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0030424 axon; ISS:UniProtKB. # GO_component GO:0030425 dendrite; ISS:UniProtKB. # GO_component GO:0032839 dendrite cytoplasm; ISS:UniProtKB. # GO_component GO:0043195 terminal bouton; ISS:UniProtKB. # GO_component GO:0043204 perikaryon; ISS:UniProtKB. # GO_component GO:0045211 postsynaptic membrane; IEA:UniProtKB-SubCell. # GO_function GO:0001640 adenylate cyclase inhibiting G-protein coupled glutamate receptor activity; IDA:UniProtKB. # GO_function GO:0001664 G-protein coupled receptor binding; TAS:Reactome. # GO_function GO:0004970 ionotropic glutamate receptor activity; ISS:UniProtKB. # GO_function GO:0005234 extracellular-glutamate-gated ion channel activity; IEA:InterPro. # GO_function GO:0008066 glutamate receptor activity; TAS:UniProtKB. # GO_function GO:0015276 ligand-gated ion channel activity; TAS:Reactome. # GO_function GO:0015277 kainate selective glutamate receptor activity; IDA:UniProtKB. # GO_process GO:0007215 glutamate receptor signaling pathway; IDA:UniProtKB. # GO_process GO:0007216 G-protein coupled glutamate receptor signaling pathway; IDA:UniProtKB. # GO_process GO:0042391 regulation of membrane potential; ISS:UniProtKB. # GO_process GO:0051967 negative regulation of synaptic transmission, glutamatergic; ISS:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # Genevisible Q13003 HS # HGNC HGNC:4581 GRIK3 # InterPro IPR001320 Iontro_rcpt # InterPro IPR001508 Iono_rcpt_met # InterPro IPR001828 ANF_lig-bd_rcpt # InterPro IPR019594 Glu/Gly-bd # InterPro IPR028082 Peripla_BP_I # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04080 Neuroactive ligand-receptor interaction # KEGG_Pathway ko04724 Glutamatergic synapse # MIM 138243 gene # Organism GRIK3_HUMAN Homo sapiens (Human) # PIR I59604 I59604 # PRINTS PR00177 NMDARECEPTOR # Pfam PF00060 Lig_chan # Pfam PF01094 ANF_receptor # Pfam PF10613 Lig_chan-Glu_bd # Proteomes UP000005640 Chromosome 1 # RNA EDITING Modified_positions=352 {ECO:0000269|PubMed 7719709}; Note=Partially edited.; # Reactome R-HSA-451308 Activation of Ca-permeable Kainate Receptor # Reactome R-HSA-500657 Presynaptic function of Kainate receptors # RecName GRIK3_HUMAN Glutamate receptor ionotropic, kainate 3 # RefSeq NP_000822 NM_000831.3. [Q13003-1] # SIMILARITY Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. GRIK3 subfamily. {ECO 0000305}. # SMART SM00079 PBPe # SMART SM00918 Lig_chan-Glu_bd # SUBCELLULAR LOCATION GRIK3_HUMAN Cell membrane; Multi-pass membrane protein. Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. # SUBUNIT Homotetramer, and heterotetramer with either GRIK4 or GRIK5. Interacts with PRKCABP (By similarity). Interacts with NETO2 (By similarity). {ECO 0000250}. # SUPFAM SSF53822 SSF53822 # UCSC uc001caz human. [Q13003-1] # eggNOG ENOG410XPSH LUCA # eggNOG KOG1054 Eukaryota BLAST swissprot:GRIK3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:GRIK3_HUMAN BioCyc ZFISH:ENSG00000163873-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000163873-MONOMER COXPRESdb 2899 http://coxpresdb.jp/data/gene/2899.shtml CleanEx HS_GRIK3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_GRIK3 DOI 10.1007/BF01233385 http://dx.doi.org/10.1007/BF01233385 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1126/science.1133427 http://dx.doi.org/10.1126/science.1133427 EMBL AC117945 http://www.ebi.ac.uk/ena/data/view/AC117945 EMBL AJ249210 http://www.ebi.ac.uk/ena/data/view/AJ249210 EMBL AL355386 http://www.ebi.ac.uk/ena/data/view/AL355386 EMBL AL591883 http://www.ebi.ac.uk/ena/data/view/AL591883 EMBL CH471059 http://www.ebi.ac.uk/ena/data/view/CH471059 EMBL CH471059 http://www.ebi.ac.uk/ena/data/view/CH471059 EMBL S69349 http://www.ebi.ac.uk/ena/data/view/S69349 EMBL U16127 http://www.ebi.ac.uk/ena/data/view/U16127 EMBL U16128 http://www.ebi.ac.uk/ena/data/view/U16128 Ensembl ENST00000373091 http://www.ensembl.org/id/ENST00000373091 Ensembl ENST00000373093 http://www.ensembl.org/id/ENST00000373093 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0030424 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030424 GO_component GO:0030425 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030425 GO_component GO:0032839 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032839 GO_component GO:0043195 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043195 GO_component GO:0043204 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043204 GO_component GO:0045211 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045211 GO_function GO:0001640 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001640 GO_function GO:0001664 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001664 GO_function GO:0004970 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004970 GO_function GO:0005234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005234 GO_function GO:0008066 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008066 GO_function GO:0015276 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015276 GO_function GO:0015277 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015277 GO_process GO:0007215 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007215 GO_process GO:0007216 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007216 GO_process GO:0042391 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042391 GO_process GO:0051967 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051967 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GeneCards GRIK3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=GRIK3 GeneID 2899 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=2899 GeneTree ENSGT00760000118920 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118920 H-InvDB HIX0028621 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0028621 HGNC HGNC:4581 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:4581 HOGENOM HOG000234371 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000234371&db=HOGENOM6 HOVERGEN HBG051839 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG051839&db=HOVERGEN HPA HPA014709 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA014709 InParanoid Q13003 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q13003 InterPro IPR001320 http://www.ebi.ac.uk/interpro/entry/IPR001320 InterPro IPR001508 http://www.ebi.ac.uk/interpro/entry/IPR001508 InterPro IPR001828 http://www.ebi.ac.uk/interpro/entry/IPR001828 InterPro IPR019594 http://www.ebi.ac.uk/interpro/entry/IPR019594 InterPro IPR028082 http://www.ebi.ac.uk/interpro/entry/IPR028082 Jabion 2899 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=2899 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:2899 http://www.genome.jp/dbget-bin/www_bget?hsa:2899 KEGG_Orthology KO:K05203 http://www.genome.jp/dbget-bin/www_bget?KO:K05203 KEGG_Pathway ko04080 http://www.genome.jp/kegg-bin/show_pathway?ko04080 KEGG_Pathway ko04724 http://www.genome.jp/kegg-bin/show_pathway?ko04724 MIM 138243 http://www.ncbi.nlm.nih.gov/omim/138243 OMA HILKQAM http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=HILKQAM OrthoDB EOG091G02LN http://cegg.unige.ch/orthodb/results?searchtext=EOG091G02LN PRINTS PR00177 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00177 PSORT swissprot:GRIK3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:GRIK3_HUMAN PSORT-B swissprot:GRIK3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:GRIK3_HUMAN PSORT2 swissprot:GRIK3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:GRIK3_HUMAN Pfam PF00060 http://pfam.xfam.org/family/PF00060 Pfam PF01094 http://pfam.xfam.org/family/PF01094 Pfam PF10613 http://pfam.xfam.org/family/PF10613 PharmGKB PA28975 http://www.pharmgkb.org/do/serve?objId=PA28975&objCls=Gene Phobius swissprot:GRIK3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:GRIK3_HUMAN PhylomeDB Q13003 http://phylomedb.org/?seqid=Q13003 ProteinModelPortal Q13003 http://www.proteinmodelportal.org/query/uniprot/Q13003 PubMed 11124978 http://www.ncbi.nlm.nih.gov/pubmed/11124978 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 16959974 http://www.ncbi.nlm.nih.gov/pubmed/16959974 PubMed 7719709 http://www.ncbi.nlm.nih.gov/pubmed/7719709 PubMed 8128318 http://www.ncbi.nlm.nih.gov/pubmed/8128318 Reactome R-HSA-451308 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-451308 Reactome R-HSA-500657 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-500657 RefSeq NP_000822 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000822 SMART SM00079 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00079 SMART SM00918 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00918 SMR Q13003 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q13003 STRING 9606.ENSP00000362183 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000362183&targetmode=cogs SUPFAM SSF53822 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF53822 UCSC uc001caz http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001caz&org=rat UniGene Hs.128848 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.128848 UniProtKB GRIK3_HUMAN http://www.uniprot.org/uniprot/GRIK3_HUMAN UniProtKB-AC Q13003 http://www.uniprot.org/uniprot/Q13003 charge swissprot:GRIK3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:GRIK3_HUMAN eggNOG ENOG410XPSH http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XPSH eggNOG KOG1054 http://eggnogapi.embl.de/nog_data/html/tree/KOG1054 epestfind swissprot:GRIK3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:GRIK3_HUMAN garnier swissprot:GRIK3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:GRIK3_HUMAN helixturnhelix swissprot:GRIK3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:GRIK3_HUMAN hmoment swissprot:GRIK3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:GRIK3_HUMAN iep swissprot:GRIK3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:GRIK3_HUMAN inforesidue swissprot:GRIK3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:GRIK3_HUMAN neXtProt NX_Q13003 http://www.nextprot.org/db/entry/NX_Q13003 octanol swissprot:GRIK3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:GRIK3_HUMAN pepcoil swissprot:GRIK3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:GRIK3_HUMAN pepdigest swissprot:GRIK3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:GRIK3_HUMAN pepinfo swissprot:GRIK3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:GRIK3_HUMAN pepnet swissprot:GRIK3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:GRIK3_HUMAN pepstats swissprot:GRIK3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:GRIK3_HUMAN pepwheel swissprot:GRIK3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:GRIK3_HUMAN pepwindow swissprot:GRIK3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:GRIK3_HUMAN sigcleave swissprot:GRIK3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:GRIK3_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S6A11_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P48066-1; Sequence=Displayed; Name=2; IsoId=P48066-2; Sequence=VSP_056539; Note=No experimental confirmation available.; # AltName S6A11_HUMAN Solute carrier family 6 member 11 # CCDS CCDS2602 -. [P48066-1] # CCDS CCDS82734 -. [P48066-2] # DrugBank DB00349 Clobazam # Ensembl ENST00000254488 ENSP00000254488; ENSG00000132164. [P48066-1] # Ensembl ENST00000454147 ENSP00000404120; ENSG00000132164. [P48066-2] # FUNCTION S6A11_HUMAN Terminates the action of GABA by its high affinity sodium-dependent reuptake into presynaptic terminals. # GO_component GO:0005737 cytoplasm; IEA:Ensembl. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0016021 integral component of membrane; TAS:ProtInc. # GO_component GO:0043005 neuron projection; IBA:GO_Central. # GO_function GO:0042165 neurotransmitter binding; IEA:Ensembl. # GO_function S6A11_HUMAN GO 0005328 neurotransmitter sodium symporter activity; IEA InterPro. # GO_function S6A11_HUMAN GO 0005332 gamma-aminobutyric acid sodium symporter activity; IBA GO_Central. # GO_process GO:0006836 neurotransmitter transport; IBA:GO_Central. # GO_process GO:0007268 chemical synaptic transmission; IBA:GO_Central. # GO_process GO:0007420 brain development; IEA:Ensembl. # GO_process GO:0015812 gamma-aminobutyric acid transport; IBA:GO_Central. # GO_process GO:0042493 response to drug; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # GOslim_process GO:0048856 anatomical structure development # Genevisible P48066 HS # HGNC HGNC:11044 SLC6A11 # InterPro IPR000175 Na/ntran_symport # InterPro IPR002982 Na/ntran_symport_GABA_GAT3 # KEGG_Brite ko02001 Solute carrier family # KEGG_Brite ko04040 Ion channels # MIM 607952 gene # Organism S6A11_HUMAN Homo sapiens (Human) # PANTHER PTHR11616 PTHR11616 # PRINTS PR00176 NANEUSMPORT # PRINTS PR01197 GAT3TRNSPORT # PROSITE PS00610 NA_NEUROTRAN_SYMP_1 # PROSITE PS00754 NA_NEUROTRAN_SYMP_2 # PROSITE PS50267 NA_NEUROTRAN_SYMP_3 # Pfam PF00209 SNF # Proteomes UP000005640 Chromosome 3 # Reactome R-HSA-442660 Na+/Cl- dependent neurotransmitter transporters # Reactome R-HSA-71288 Creatine metabolism # Reactome R-HSA-888593 Reuptake of GABA # RecName S6A11_HUMAN Sodium- and chloride-dependent GABA transporter 3 # RefSeq NP_001304335 NM_001317406.1. [P48066-2] # RefSeq NP_055044 NM_014229.2. [P48066-1] # SIMILARITY Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A11 subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION S6A11_HUMAN Membrane; Multi-pass membrane protein. # TCDB 2.A.22.3:the neurotransmitter sodium symporter (nss) family # TISSUE SPECIFICITY S6A11_HUMAN Widespread distribution in the brain. # UCSC uc003bvy human. [P48066-1] # eggNOG COG0733 LUCA # eggNOG KOG3659 Eukaryota BLAST swissprot:S6A11_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S6A11_HUMAN BioCyc ZFISH:ENSG00000132164-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000132164-MONOMER COXPRESdb 6538 http://coxpresdb.jp/data/gene/6538.shtml CleanEx HS_SLC6A11 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC6A11 DOI 10.1038/nature04728 http://dx.doi.org/10.1038/nature04728 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DrugBank DB00349 http://www.drugbank.ca/drugs/DB00349 EMBL AC018495 http://www.ebi.ac.uk/ena/data/view/AC018495 EMBL AC027128 http://www.ebi.ac.uk/ena/data/view/AC027128 EMBL AK312719 http://www.ebi.ac.uk/ena/data/view/AK312719 EMBL BC036083 http://www.ebi.ac.uk/ena/data/view/BC036083 EMBL CH471055 http://www.ebi.ac.uk/ena/data/view/CH471055 EMBL S75989 http://www.ebi.ac.uk/ena/data/view/S75989 Ensembl ENST00000254488 http://www.ensembl.org/id/ENST00000254488 Ensembl ENST00000454147 http://www.ensembl.org/id/ENST00000454147 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0043005 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043005 GO_function GO:0005328 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005328 GO_function GO:0005332 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005332 GO_function GO:0042165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042165 GO_process GO:0006836 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006836 GO_process GO:0007268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007268 GO_process GO:0007420 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007420 GO_process GO:0015812 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015812 GO_process GO:0042493 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042493 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GeneCards SLC6A11 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC6A11 GeneID 6538 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6538 GeneTree ENSGT00760000118857 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118857 HGNC HGNC:11044 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11044 HOGENOM HOG000116406 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000116406&db=HOGENOM6 HOVERGEN HBG071421 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG071421&db=HOVERGEN HPA HPA037981 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA037981 InParanoid P48066 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P48066 InterPro IPR000175 http://www.ebi.ac.uk/interpro/entry/IPR000175 InterPro IPR002982 http://www.ebi.ac.uk/interpro/entry/IPR002982 Jabion 6538 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6538 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:6538 http://www.genome.jp/dbget-bin/www_bget?hsa:6538 KEGG_Orthology KO:K05039 http://www.genome.jp/dbget-bin/www_bget?KO:K05039 MIM 607952 http://www.ncbi.nlm.nih.gov/omim/607952 OMA YRPPSLI http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=YRPPSLI OrthoDB EOG091G08PX http://cegg.unige.ch/orthodb/results?searchtext=EOG091G08PX PANTHER PTHR11616 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11616 PRINTS PR00176 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00176 PRINTS PR01197 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01197 PROSITE PS00610 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00610 PROSITE PS00754 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00754 PROSITE PS50267 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50267 PSORT swissprot:S6A11_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S6A11_HUMAN PSORT-B swissprot:S6A11_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S6A11_HUMAN PSORT2 swissprot:S6A11_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S6A11_HUMAN Pfam PF00209 http://pfam.xfam.org/family/PF00209 PharmGKB PA35907 http://www.pharmgkb.org/do/serve?objId=PA35907&objCls=Gene Phobius swissprot:S6A11_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S6A11_HUMAN PhylomeDB P48066 http://phylomedb.org/?seqid=P48066 ProteinModelPortal P48066 http://www.proteinmodelportal.org/query/uniprot/P48066 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16641997 http://www.ncbi.nlm.nih.gov/pubmed/16641997 PubMed 7874447 http://www.ncbi.nlm.nih.gov/pubmed/7874447 Reactome R-HSA-442660 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-442660 Reactome R-HSA-71288 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-71288 Reactome R-HSA-888593 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-888593 RefSeq NP_001304335 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001304335 RefSeq NP_055044 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_055044 STRING 9606.ENSP00000254488 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000254488&targetmode=cogs TCDB 2.A.22.3 http://www.tcdb.org/search/result.php?tc=2.A.22.3 UCSC uc003bvy http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003bvy&org=rat UniGene Hs.655078 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.655078 UniGene Hs.657405 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.657405 UniProtKB S6A11_HUMAN http://www.uniprot.org/uniprot/S6A11_HUMAN UniProtKB-AC P48066 http://www.uniprot.org/uniprot/P48066 charge swissprot:S6A11_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S6A11_HUMAN eggNOG COG0733 http://eggnogapi.embl.de/nog_data/html/tree/COG0733 eggNOG KOG3659 http://eggnogapi.embl.de/nog_data/html/tree/KOG3659 epestfind swissprot:S6A11_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S6A11_HUMAN garnier swissprot:S6A11_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S6A11_HUMAN helixturnhelix swissprot:S6A11_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S6A11_HUMAN hmoment swissprot:S6A11_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S6A11_HUMAN iep swissprot:S6A11_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S6A11_HUMAN inforesidue swissprot:S6A11_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S6A11_HUMAN neXtProt NX_P48066 http://www.nextprot.org/db/entry/NX_P48066 octanol swissprot:S6A11_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S6A11_HUMAN pepcoil swissprot:S6A11_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S6A11_HUMAN pepdigest swissprot:S6A11_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S6A11_HUMAN pepinfo swissprot:S6A11_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S6A11_HUMAN pepnet swissprot:S6A11_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S6A11_HUMAN pepstats swissprot:S6A11_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S6A11_HUMAN pepwheel swissprot:S6A11_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S6A11_HUMAN pepwindow swissprot:S6A11_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S6A11_HUMAN sigcleave swissprot:S6A11_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S6A11_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS AT1B1_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P05026-1; Sequence=Displayed; Name=2; IsoId=P05026-2; Sequence=VSP_000349; # AltName AT1B1_HUMAN Sodium/potassium-dependent ATPase subunit beta-1 # BioGrid 106971 72 # CCDS CCDS1276 -. [P05026-1] # ChiTaRS ATP1B1 human # DOMAIN AT1B1_HUMAN The C-terminal lobe folds into an immunoglobulin-like domain and mediates cell adhesion properties. {ECO 0000250}. # Ensembl ENST00000367815 ENSP00000356789; ENSG00000143153. [P05026-1] # Ensembl ENST00000367816 ENSP00000356790; ENSG00000143153. [P05026-1] # ExpressionAtlas P05026 baseline and differential # FUNCTION AT1B1_HUMAN Involved in cell adhesion and establishing epithelial cell polarity. {ECO 0000269|PubMed 19694409}. # FUNCTION AT1B1_HUMAN This is the non-catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of Na(+) and K(+) ions across the plasma membrane. The beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane. {ECO 0000269|PubMed 19694409}. # GO_component AT1B1_HUMAN GO 0005890 sodium potassium-exchanging ATPase complex; IDA BHF-UCL. # GO_component GO:0005622 intracellular; IEA:GOC. # GO_component GO:0005886 plasma membrane; IDA:BHF-UCL. # GO_component GO:0005901 caveola; IEA:Ensembl. # GO_component GO:0014704 intercalated disc; ISS:BHF-UCL. # GO_component GO:0016020 membrane; IDA:BHF-UCL. # GO_component GO:0016323 basolateral plasma membrane; IEA:Ensembl. # GO_component GO:0016324 apical plasma membrane; IEA:Ensembl. # GO_component GO:0042383 sarcolemma; ISS:BHF-UCL. # GO_component GO:0043209 myelin sheath; IEA:Ensembl. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_component GO:1903561 extracellular vesicle; IDA:UniProtKB. # GO_function AT1B1_HUMAN GO 0005391 sodium potassium-exchanging ATPase activity; IEA Ensembl. # GO_function GO:0001671 ATPase activator activity; IDA:BHF-UCL. # GO_function GO:0023026 MHC class II protein complex binding; IDA:UniProtKB. # GO_function GO:0051117 ATPase binding; IPI:BHF-UCL. # GO_process AT1B1_HUMAN GO 1903281 positive regulation of calcium sodium antiporter activity; ISS BHF-UCL. # GO_process GO:0001666 response to hypoxia; IEA:Ensembl. # GO_process GO:0006874 cellular calcium ion homeostasis; ISS:BHF-UCL. # GO_process GO:0006883 cellular sodium ion homeostasis; IDA:BHF-UCL. # GO_process GO:0007155 cell adhesion; IEA:UniProtKB-KW. # GO_process GO:0010107 potassium ion import; IDA:BHF-UCL. # GO_process GO:0010468 regulation of gene expression; ISS:BHF-UCL. # GO_process GO:0010882 regulation of cardiac muscle contraction by calcium ion signaling; ISS:BHF-UCL. # GO_process GO:0030007 cellular potassium ion homeostasis; IDA:BHF-UCL. # GO_process GO:0032781 positive regulation of ATPase activity; IDA:BHF-UCL. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0036376 sodium ion export from cell; IDA:BHF-UCL. # GO_process GO:0044861 protein transport into plasma membrane raft; TAS:BHF-UCL. # GO_process GO:0046034 ATP metabolic process; IDA:BHF-UCL. # GO_process GO:0050821 protein stabilization; IDA:BHF-UCL. # GO_process GO:0050900 leukocyte migration; TAS:Reactome. # GO_process GO:0055119 relaxation of cardiac muscle; ISS:BHF-UCL. # GO_process GO:0060048 cardiac muscle contraction; ISS:BHF-UCL. # GO_process GO:0072659 protein localization to plasma membrane; IDA:BHF-UCL. # GO_process GO:0086009 membrane repolarization; IDA:BHF-UCL. # GO_process GO:0086013 membrane repolarization during cardiac muscle cell action potential; IC:BHF-UCL. # GO_process GO:0086064 cell communication by electrical coupling involved in cardiac conduction; TAS:BHF-UCL. # GO_process GO:1901018 positive regulation of potassium ion transmembrane transporter activity; IDA:BHF-UCL. # GO_process GO:1903278 positive regulation of sodium ion export from cell; IDA:BHF-UCL. # GO_process GO:1903288 positive regulation of potassium ion import; IDA:BHF-UCL. # GO_process GO:1903779 regulation of cardiac conduction; TAS:Reactome. # GO_process GO:1990573 potassium ion import across plasma membrane; ISS:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005622 intracellular # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0019899 enzyme binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0030234 enzyme regulator activity # GOslim_process GO:0002376 immune system process # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007009 plasma membrane organization # GOslim_process GO:0007155 cell adhesion # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0016192 vesicle-mediated transport # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0044281 small molecule metabolic process # GOslim_process GO:0048870 cell motility # GOslim_process GO:0055085 transmembrane transport # GOslim_process GO:0061024 membrane organization # Genevisible P05026 HS # HGNC HGNC:804 ATP1B1 # INTERACTION AT1B1_HUMAN P02730 SLC4A1; NbExp=8; IntAct=EBI-714630, EBI-7576138; # IntAct P05026 14 # InterPro IPR000402 Na/K_ATPase_sub_beta # InterPro IPR015565 Na/K_ATPase_sub_beta_chordates # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04090 Cellular antigens # KEGG_Pathway ko04260 Cardiac muscle contraction # KEGG_Pathway ko04960 Aldosterone-regulated sodium reabsorption # KEGG_Pathway ko04961 Endocrine and other factor-regulated calcium reabsorption # KEGG_Pathway ko04964 Proximal tubule bicarbonate reclamation # KEGG_Pathway ko04970 Salivary secretion # KEGG_Pathway ko04971 Gastric acid secretion # KEGG_Pathway ko04972 Pancreatic secretion # KEGG_Pathway ko04973 Carbohydrate digestion and absorption # KEGG_Pathway ko04974 Protein digestion and absorption # KEGG_Pathway ko04976 Bile secretion # KEGG_Pathway ko04978 Mineral absorption # MIM 182330 gene # Organism AT1B1_HUMAN Homo sapiens (Human) # PANTHER PTHR11523 PTHR11523 # PANTHER PTHR11523:SF10 PTHR11523:SF10 # PIR A23764 PWHUNB # PROSITE PS00390 ATPASE_NA_K_BETA_1 # PROSITE PS00391 ATPASE_NA_K_BETA_2 # Pfam PF00287 Na_K-ATPase # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-210991 Basigin interactions # Reactome R-HSA-5578775 Ion homeostasis # Reactome R-HSA-936837 Ion transport by P-type ATPases # RecName AT1B1_HUMAN Sodium/potassium-transporting ATPase subunit beta-1 # RefSeq NP_001668 NM_001677.3. [P05026-1] # SIMILARITY Belongs to the X(+)/potassium ATPases subunit beta family. {ECO 0000305}. # SUBCELLULAR LOCATION AT1B1_HUMAN Cell membrane; Single-pass type II membrane protein. # SUBUNIT AT1B1_HUMAN Composed of three subunits alpha (catalytic), beta and gamma. Interacts with NKAIN1, NKAIN2 and NKAIN4 (By similarity). Interacts with MLC1 (PubMed 22328087). Part of a complex containing MLC1, TRPV4, AQP4 and HEPACAM. Interacts with KIRREL3 (PubMed 25902260). {ECO 0000250, ECO 0000269|PubMed 22328087, ECO 0000269|PubMed 25902260}. # TCDB 3.A.3.1 the p-type atpase (p-atpase) superfamily # TIGRFAMs TIGR01107 Na_K_ATPase_bet # TISSUE SPECIFICITY AT1B1_HUMAN Found in most tissues. # UCSC uc001gfr human. [P05026-1] # eggNOG ENOG411150A LUCA # eggNOG KOG3927 Eukaryota BLAST swissprot:AT1B1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:AT1B1_HUMAN BioCyc ZFISH:HS06994-MONOMER http://biocyc.org/getid?id=ZFISH:HS06994-MONOMER COXPRESdb 481 http://coxpresdb.jp/data/gene/481.shtml CleanEx HS_ATP1B1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ATP1B1 DOI 10.1016/0014-5793(89)81591-1 http://dx.doi.org/10.1016/0014-5793(89)81591-1 DOI 10.1016/0378-1119(94)00812-7 http://dx.doi.org/10.1016/0378-1119(94)00812-7 DOI 10.1016/0888-7543(89)90008-6 http://dx.doi.org/10.1016/0888-7543(89)90008-6 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/bi900868e http://dx.doi.org/10.1021/bi900868e DOI 10.1021/pr8008012 http://dx.doi.org/10.1021/pr8008012 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1038/nbt.1532 http://dx.doi.org/10.1038/nbt.1532 DOI 10.1038/nbt827 http://dx.doi.org/10.1038/nbt827 DOI 10.1093/hmg/dds032 http://dx.doi.org/10.1093/hmg/dds032 DOI 10.1093/nar/14.7.2833 http://dx.doi.org/10.1093/nar/14.7.2833 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DOI 10.1371/journal.pone.0123106 http://dx.doi.org/10.1371/journal.pone.0123106 EMBL AL031726 http://www.ebi.ac.uk/ena/data/view/AL031726 EMBL BC000006 http://www.ebi.ac.uk/ena/data/view/BC000006 EMBL BT009787 http://www.ebi.ac.uk/ena/data/view/BT009787 EMBL M25160 http://www.ebi.ac.uk/ena/data/view/M25160 EMBL M25161 http://www.ebi.ac.uk/ena/data/view/M25161 EMBL U16799 http://www.ebi.ac.uk/ena/data/view/U16799 EMBL X03747 http://www.ebi.ac.uk/ena/data/view/X03747 EMBL X17161 http://www.ebi.ac.uk/ena/data/view/X17161 Ensembl ENST00000367815 http://www.ensembl.org/id/ENST00000367815 Ensembl ENST00000367816 http://www.ensembl.org/id/ENST00000367816 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005622 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005622 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005890 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005890 GO_component GO:0005901 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005901 GO_component GO:0014704 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014704 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016323 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:0042383 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042383 GO_component GO:0043209 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043209 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_component GO:1903561 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903561 GO_function GO:0001671 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001671 GO_function GO:0005391 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005391 GO_function GO:0023026 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0023026 GO_function GO:0051117 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051117 GO_process GO:0001666 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001666 GO_process GO:0006874 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006874 GO_process GO:0006883 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006883 GO_process GO:0007155 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007155 GO_process GO:0010107 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010107 GO_process GO:0010468 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010468 GO_process GO:0010882 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010882 GO_process GO:0030007 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030007 GO_process GO:0032781 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032781 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0036376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0036376 GO_process GO:0044861 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044861 GO_process GO:0046034 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046034 GO_process GO:0050821 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050821 GO_process GO:0050900 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050900 GO_process GO:0055119 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055119 GO_process GO:0060048 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060048 GO_process GO:0072659 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0072659 GO_process GO:0086009 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086009 GO_process GO:0086013 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086013 GO_process GO:0086064 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086064 GO_process GO:1901018 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1901018 GO_process GO:1903278 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903278 GO_process GO:1903281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903281 GO_process GO:1903288 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903288 GO_process GO:1903779 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903779 GO_process GO:1990573 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1990573 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005622 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005622 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0030234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030234 GOslim_process GO:0002376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002376 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007009 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007009 GOslim_process GO:0007155 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007155 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0016192 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016192 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GOslim_process GO:0048870 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048870 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GOslim_process GO:0061024 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061024 GeneCards ATP1B1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ATP1B1 GeneID 481 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=481 GeneTree ENSGT00550000074530 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074530 H-InvDB HIX0001311 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0001311 HGNC HGNC:804 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:804 HOGENOM HOG000039248 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000039248&db=HOGENOM6 HOVERGEN HBG050603 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050603&db=HOVERGEN HPA HPA012911 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA012911 InParanoid P05026 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P05026 IntAct P05026 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P05026* InterPro IPR000402 http://www.ebi.ac.uk/interpro/entry/IPR000402 InterPro IPR015565 http://www.ebi.ac.uk/interpro/entry/IPR015565 Jabion 481 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=481 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04090 http://www.genome.jp/dbget-bin/www_bget?ko04090 KEGG_Gene hsa:481 http://www.genome.jp/dbget-bin/www_bget?hsa:481 KEGG_Orthology KO:K01540 http://www.genome.jp/dbget-bin/www_bget?KO:K01540 KEGG_Pathway ko04260 http://www.genome.jp/kegg-bin/show_pathway?ko04260 KEGG_Pathway ko04960 http://www.genome.jp/kegg-bin/show_pathway?ko04960 KEGG_Pathway ko04961 http://www.genome.jp/kegg-bin/show_pathway?ko04961 KEGG_Pathway ko04964 http://www.genome.jp/kegg-bin/show_pathway?ko04964 KEGG_Pathway ko04970 http://www.genome.jp/kegg-bin/show_pathway?ko04970 KEGG_Pathway ko04971 http://www.genome.jp/kegg-bin/show_pathway?ko04971 KEGG_Pathway ko04972 http://www.genome.jp/kegg-bin/show_pathway?ko04972 KEGG_Pathway ko04973 http://www.genome.jp/kegg-bin/show_pathway?ko04973 KEGG_Pathway ko04974 http://www.genome.jp/kegg-bin/show_pathway?ko04974 KEGG_Pathway ko04976 http://www.genome.jp/kegg-bin/show_pathway?ko04976 KEGG_Pathway ko04978 http://www.genome.jp/kegg-bin/show_pathway?ko04978 MIM 182330 http://www.ncbi.nlm.nih.gov/omim/182330 MINT MINT-5000887 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-5000887 OMA RGEFNNE http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=RGEFNNE OrthoDB EOG091G0DJ4 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0DJ4 PANTHER PTHR11523 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11523 PANTHER PTHR11523:SF10 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11523:SF10 PROSITE PS00390 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00390 PROSITE PS00391 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00391 PSORT swissprot:AT1B1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:AT1B1_HUMAN PSORT-B swissprot:AT1B1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:AT1B1_HUMAN PSORT2 swissprot:AT1B1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:AT1B1_HUMAN Pfam PF00287 http://pfam.xfam.org/family/PF00287 PharmGKB PA66 http://www.pharmgkb.org/do/serve?objId=PA66&objCls=Gene Phobius swissprot:AT1B1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:AT1B1_HUMAN PhylomeDB P05026 http://phylomedb.org/?seqid=P05026 ProteinModelPortal P05026 http://www.proteinmodelportal.org/query/uniprot/P05026 PubMed 12754519 http://www.ncbi.nlm.nih.gov/pubmed/12754519 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 19159218 http://www.ncbi.nlm.nih.gov/pubmed/19159218 PubMed 19349973 http://www.ncbi.nlm.nih.gov/pubmed/19349973 PubMed 19694409 http://www.ncbi.nlm.nih.gov/pubmed/19694409 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 22328087 http://www.ncbi.nlm.nih.gov/pubmed/22328087 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 2555225 http://www.ncbi.nlm.nih.gov/pubmed/2555225 PubMed 2559024 http://www.ncbi.nlm.nih.gov/pubmed/2559024 PubMed 25902260 http://www.ncbi.nlm.nih.gov/pubmed/25902260 PubMed 3008098 http://www.ncbi.nlm.nih.gov/pubmed/3008098 PubMed 7536695 http://www.ncbi.nlm.nih.gov/pubmed/7536695 Reactome R-HSA-210991 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-210991 Reactome R-HSA-5578775 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5578775 Reactome R-HSA-936837 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-936837 RefSeq NP_001668 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001668 STRING 9606.ENSP00000356789 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000356789&targetmode=cogs TCDB 3.A.3.1 http://www.tcdb.org/search/result.php?tc=3.A.3.1 TIGRFAMs TIGR01107 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01107 UCSC uc001gfr http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001gfr&org=rat UniGene Hs.291196 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.291196 UniProtKB AT1B1_HUMAN http://www.uniprot.org/uniprot/AT1B1_HUMAN UniProtKB-AC P05026 http://www.uniprot.org/uniprot/P05026 charge swissprot:AT1B1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:AT1B1_HUMAN eggNOG ENOG411150A http://eggnogapi.embl.de/nog_data/html/tree/ENOG411150A eggNOG KOG3927 http://eggnogapi.embl.de/nog_data/html/tree/KOG3927 epestfind swissprot:AT1B1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:AT1B1_HUMAN garnier swissprot:AT1B1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:AT1B1_HUMAN helixturnhelix swissprot:AT1B1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:AT1B1_HUMAN hmoment swissprot:AT1B1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:AT1B1_HUMAN iep swissprot:AT1B1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:AT1B1_HUMAN inforesidue swissprot:AT1B1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:AT1B1_HUMAN neXtProt NX_P05026 http://www.nextprot.org/db/entry/NX_P05026 octanol swissprot:AT1B1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:AT1B1_HUMAN pepcoil swissprot:AT1B1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:AT1B1_HUMAN pepdigest swissprot:AT1B1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:AT1B1_HUMAN pepinfo swissprot:AT1B1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:AT1B1_HUMAN pepnet swissprot:AT1B1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:AT1B1_HUMAN pepstats swissprot:AT1B1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:AT1B1_HUMAN pepwheel swissprot:AT1B1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:AT1B1_HUMAN pepwindow swissprot:AT1B1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:AT1B1_HUMAN sigcleave swissprot:AT1B1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:AT1B1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS KCNN2_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9H2S1-1; Sequence=Displayed; Name=2; IsoId=Q9H2S1-2; Sequence=VSP_044584; # AltName KCNN2_HUMAN KCa2.2 # BioGrid 109982 5 # CCDS CCDS4114 -. [Q9H2S1-1] # CCDS CCDS43352 -. [Q9H2S1-2] # ChiTaRS KCNN2 human # DrugBank DB00721 Procaine # DrugBank DB01110 Miconazole # Ensembl ENST00000264773 ENSP00000264773; ENSG00000080709. [Q9H2S1-1] # Ensembl ENST00000503706 ENSP00000421439; ENSG00000080709. [Q9H2S1-2] # Ensembl ENST00000512097 ENSP00000427120; ENSG00000080709. [Q9H2S1-1] # Ensembl ENST00000610748 ENSP00000483124; ENSG00000080709. [Q9H2S1-2] # ExpressionAtlas Q9H2S1 baseline and differential # FUNCTION KCNN2_HUMAN Forms a voltage-independent potassium channel activated by intracellular calcium. Activation is followed by membrane hyperpolarization. Thought to regulate neuronal excitability by contributing to the slow component of synaptic afterhyperpolarization. The channel is blocked by apamin. # GO_component GO:0005790 smooth endoplasmic reticulum; IEA:Ensembl. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0009986 cell surface; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; NAS:UniProtKB. # GO_component GO:0030018 Z disc; IEA:Ensembl. # GO_component GO:0030315 T-tubule; IEA:Ensembl. # GO_component GO:0043025 neuronal cell body; IBA:GO_Central. # GO_component GO:0043197 dendritic spine; IBA:GO_Central. # GO_function GO:0005516 calmodulin binding; IBA:GO_Central. # GO_function GO:0015269 calcium-activated potassium channel activity; IDA:BHF-UCL. # GO_function GO:0016286 small conductance calcium-activated potassium channel activity; IMP:UniProtKB. # GO_function GO:0019904 protein domain specific binding; IPI:UniProtKB. # GO_function GO:0042803 protein homodimerization activity; IPI:BHF-UCL. # GO_function GO:0051393 alpha-actinin binding; IPI:BHF-UCL. # GO_process GO:0006813 potassium ion transport; NAS:UniProtKB. # GO_process GO:0071805 potassium ion transmembrane transport; IDA:BHF-UCL. # GO_process GO:1901379 regulation of potassium ion transmembrane transport; IDA:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0008092 cytoskeletal protein binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0055085 transmembrane transport # Genevisible Q9H2S1 HS # HGNC HGNC:6291 KCNN2 # IntAct Q9H2S1 2 # InterPro IPR004178 CaM-bd_dom # InterPro IPR013099 K_chnl_dom # InterPro IPR015449 K_chnl_Ca-activ_SK # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04726 Serotonergic synapse # KEGG_Pathway ko04976 Bile secretion # MIM 605879 gene # Organism KCNN2_HUMAN Homo sapiens (Human) # PANTHER PTHR10153 PTHR10153 # PRINTS PR01451 SKCHANNEL # Pfam PF02888 CaMBD # Pfam PF03530 SK_channel # Pfam PF07885 Ion_trans_2 # Proteomes UP000005640 Chromosome 5 # Reactome R-HSA-1296052 Ca2+ activated K+ channels # RecName KCNN2_HUMAN Small conductance calcium-activated potassium channel protein 2 # RefSeq NP_001265133 NM_001278204.1. [Q9H2S1-2] # RefSeq NP_067627 NM_021614.3. [Q9H2S1-1] # RefSeq NP_740721 NM_170775.2. [Q9H2S1-2] # SIMILARITY Belongs to the potassium channel KCNN family. KCa2.2/KCNN2 subfamily. {ECO 0000305}. # SMART SM01053 CaMBD # SUBCELLULAR LOCATION KCNN2_HUMAN Membrane; Multi-pass membrane protein. # SUBUNIT Heterooligomer. The complex is composed of 4 channel subunits each of which binds to a calmodulin subunit which regulates the channel activity through calcium-binding (By similarity). {ECO 0000250}. # SUPFAM SSF81327 SSF81327 # TCDB 1.A.1.16 the voltage-gated ion channel (vic) superfamily # TISSUE SPECIFICITY Expressed in atrial myocytes (at protein level). Widely expressed. {ECO:0000269|PubMed 13679367}. # UCSC uc003kqo human. [Q9H2S1-1] # eggNOG ENOG410XT9D LUCA # eggNOG KOG3684 Eukaryota BLAST swissprot:KCNN2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCNN2_HUMAN BioCyc ZFISH:ENSG00000080709-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000080709-MONOMER COXPRESdb 3781 http://coxpresdb.jp/data/gene/3781.shtml CleanEx HS_KCNN2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNN2 DIP DIP-48997N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-48997N DOI 10.1038/nature02919 http://dx.doi.org/10.1038/nature02919 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.M001562200 http://dx.doi.org/10.1074/jbc.M001562200 DOI 10.1074/jbc.M307508200 http://dx.doi.org/10.1074/jbc.M307508200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DrugBank DB00721 http://www.drugbank.ca/drugs/DB00721 DrugBank DB01110 http://www.drugbank.ca/drugs/DB01110 EMBL AC025761 http://www.ebi.ac.uk/ena/data/view/AC025761 EMBL AC109482 http://www.ebi.ac.uk/ena/data/view/AC109482 EMBL AF239613 http://www.ebi.ac.uk/ena/data/view/AF239613 EMBL AF397175 http://www.ebi.ac.uk/ena/data/view/AF397175 EMBL AK289948 http://www.ebi.ac.uk/ena/data/view/AK289948 EMBL AY258141 http://www.ebi.ac.uk/ena/data/view/AY258141 EMBL BC015371 http://www.ebi.ac.uk/ena/data/view/BC015371 EMBL BC117454 http://www.ebi.ac.uk/ena/data/view/BC117454 EMBL BC117456 http://www.ebi.ac.uk/ena/data/view/BC117456 EMBL CH471086 http://www.ebi.ac.uk/ena/data/view/CH471086 EMBL CH471086 http://www.ebi.ac.uk/ena/data/view/CH471086 Ensembl ENST00000264773 http://www.ensembl.org/id/ENST00000264773 Ensembl ENST00000503706 http://www.ensembl.org/id/ENST00000503706 Ensembl ENST00000512097 http://www.ensembl.org/id/ENST00000512097 Ensembl ENST00000610748 http://www.ensembl.org/id/ENST00000610748 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005790 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005790 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0009986 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009986 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0030018 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030018 GO_component GO:0030315 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030315 GO_component GO:0043025 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043025 GO_component GO:0043197 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043197 GO_function GO:0005516 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005516 GO_function GO:0015269 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015269 GO_function GO:0016286 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016286 GO_function GO:0019904 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019904 GO_function GO:0042803 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042803 GO_function GO:0051393 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051393 GO_process GO:0006813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006813 GO_process GO:0071805 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071805 GO_process GO:1901379 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1901379 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0008092 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008092 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards KCNN2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNN2 GeneID 3781 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=3781 GeneTree ENSGT00500000044784 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00500000044784 HGNC HGNC:6291 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6291 HOGENOM HOG000124679 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000124679&db=HOGENOM6 HOVERGEN HBG052241 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052241&db=HOVERGEN HPA HPA038221 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA038221 InParanoid Q9H2S1 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9H2S1 IntAct Q9H2S1 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9H2S1* InterPro IPR004178 http://www.ebi.ac.uk/interpro/entry/IPR004178 InterPro IPR013099 http://www.ebi.ac.uk/interpro/entry/IPR013099 InterPro IPR015449 http://www.ebi.ac.uk/interpro/entry/IPR015449 Jabion 3781 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=3781 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:3781 http://www.genome.jp/dbget-bin/www_bget?hsa:3781 KEGG_Orthology KO:K04943 http://www.genome.jp/dbget-bin/www_bget?KO:K04943 KEGG_Pathway ko04726 http://www.genome.jp/kegg-bin/show_pathway?ko04726 KEGG_Pathway ko04976 http://www.genome.jp/kegg-bin/show_pathway?ko04976 MIM 605879 http://www.ncbi.nlm.nih.gov/omim/605879 OMA MESYDKH http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=MESYDKH OrthoDB EOG091G03YH http://cegg.unige.ch/orthodb/results?searchtext=EOG091G03YH PANTHER PTHR10153 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10153 PRINTS PR01451 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01451 PSORT swissprot:KCNN2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCNN2_HUMAN PSORT-B swissprot:KCNN2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCNN2_HUMAN PSORT2 swissprot:KCNN2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCNN2_HUMAN Pfam PF02888 http://pfam.xfam.org/family/PF02888 Pfam PF03530 http://pfam.xfam.org/family/PF03530 Pfam PF07885 http://pfam.xfam.org/family/PF07885 PharmGKB PA30071 http://www.pharmgkb.org/do/serve?objId=PA30071&objCls=Gene Phobius swissprot:KCNN2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCNN2_HUMAN PhylomeDB Q9H2S1 http://phylomedb.org/?seqid=Q9H2S1 ProteinModelPortal Q9H2S1 http://www.proteinmodelportal.org/query/uniprot/Q9H2S1 PubMed 10991935 http://www.ncbi.nlm.nih.gov/pubmed/10991935 PubMed 13679367 http://www.ncbi.nlm.nih.gov/pubmed/13679367 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15372022 http://www.ncbi.nlm.nih.gov/pubmed/15372022 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 Reactome R-HSA-1296052 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1296052 RefSeq NP_001265133 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001265133 RefSeq NP_067627 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_067627 RefSeq NP_740721 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_740721 SMART SM01053 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM01053 SMR Q9H2S1 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9H2S1 STRING 9606.ENSP00000264773 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000264773&targetmode=cogs SUPFAM SSF81327 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81327 TCDB 1.A.1.16 http://www.tcdb.org/search/result.php?tc=1.A.1.16 UCSC uc003kqo http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003kqo&org=rat UniGene Hs.582520 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.582520 UniGene Hs.98280 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.98280 UniProtKB KCNN2_HUMAN http://www.uniprot.org/uniprot/KCNN2_HUMAN UniProtKB-AC Q9H2S1 http://www.uniprot.org/uniprot/Q9H2S1 charge swissprot:KCNN2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCNN2_HUMAN eggNOG ENOG410XT9D http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XT9D eggNOG KOG3684 http://eggnogapi.embl.de/nog_data/html/tree/KOG3684 epestfind swissprot:KCNN2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCNN2_HUMAN garnier swissprot:KCNN2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCNN2_HUMAN helixturnhelix swissprot:KCNN2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCNN2_HUMAN hmoment swissprot:KCNN2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCNN2_HUMAN iep swissprot:KCNN2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCNN2_HUMAN inforesidue swissprot:KCNN2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCNN2_HUMAN neXtProt NX_Q9H2S1 http://www.nextprot.org/db/entry/NX_Q9H2S1 octanol swissprot:KCNN2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCNN2_HUMAN pepcoil swissprot:KCNN2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCNN2_HUMAN pepdigest swissprot:KCNN2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCNN2_HUMAN pepinfo swissprot:KCNN2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCNN2_HUMAN pepnet swissprot:KCNN2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCNN2_HUMAN pepstats swissprot:KCNN2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCNN2_HUMAN pepwheel swissprot:KCNN2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCNN2_HUMAN pepwindow swissprot:KCNN2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCNN2_HUMAN sigcleave swissprot:KCNN2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCNN2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS STIM2_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9P246-1; Sequence=Displayed; Name=2; IsoId=Q9P246-2; Sequence=VSP_057171, VSP_057172; Note=No experimental confirmation available.; Name=3; IsoId=Q9P246-3; Sequence=VSP_057173, VSP_057174; Note=No experimental confirmation available.; # BioGrid 121666 18 # CCDS CCDS3440 -. [Q9P246-1] # CCDS CCDS54752 -. [Q9P246-3] # CDD cd11722 SOAR # ChiTaRS STIM2 human # Ensembl ENST00000412829 ENSP00000404812; ENSG00000109689 # Ensembl ENST00000467087 ENSP00000419073; ENSG00000109689 # ExpressionAtlas Q9P246 baseline and differential # FUNCTION STIM2_HUMAN Plays a role in mediating store-operated Ca(2+) entry (SOCE), a Ca(2+) influx following depletion of intracellular Ca(2+) stores. Functions as a highly sensitive Ca(2+) sensor in the endoplasmic reticulum which activates both store-operated and store-independent Ca(2+)-influx. Regulates basal cytosolic and endoplasmic reticulum Ca(2+) concentrations. Upon mild variations of the endoplasmic reticulum Ca(2+) concentration, translocates from the endoplasmic reticulum to the plasma membrane where it probably activates the Ca(2+) release-activated Ca(2+) (CRAC) channels ORAI1, ORAI2 and ORAI3. May inhibit STIM1-mediated Ca(2+) influx. {ECO 0000269|PubMed 16005298, ECO 0000269|PubMed 16860747, ECO 0000269|PubMed 17905723, ECO 0000269|PubMed 18160041, ECO 0000269|PubMed 21217057, ECO 0000269|PubMed 22464749, ECO 0000269|PubMed 23359669}. # GO_component GO:0005783 endoplasmic reticulum; IDA:UniProtKB. # GO_component GO:0005789 endoplasmic reticulum membrane; IEA:UniProtKB-SubCell. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0005246 calcium channel regulator activity; IMP:UniProtKB. # GO_function GO:0005509 calcium ion binding; IDA:UniProtKB. # GO_function GO:0015279 store-operated calcium channel activity; IDA:UniProtKB. # GO_process GO:0002115 store-operated calcium entry; IBA:GO_Central. # GO_process GO:0006874 cellular calcium ion homeostasis; IMP:UniProtKB. # GO_process GO:0032237 activation of store-operated calcium channel activity; IDA:UniProtKB. # GO_process GO:0051928 positive regulation of calcium ion transport; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # Gene3D 1.10.150.50 -; 1. # Genevisible Q9P246 HS # HGNC HGNC:19205 STIM2 # INTERACTION STIM2_HUMAN Q13586 STIM1; NbExp=4; IntAct=EBI-448891, EBI-448878; # IntAct Q9P246 6 # InterPro IPR001660 SAM # InterPro IPR013761 SAM/pointed # InterPro IPR032393 SOAR # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Pathway ko04020 Calcium signaling pathway # MIM 610841 gene # Organism STIM2_HUMAN Homo sapiens (Human) # PDB 2L5Y NMR; -; A=62-205 # PROSITE PS50105 SAM_DOMAIN # PTM STIM2_HUMAN Glycosylated. {ECO 0000269|PubMed 11463338}. # PTM STIM2_HUMAN Phosphorylated predominantly on Ser residues. {ECO 0000269|PubMed 11463338}. # Pfam PF07647 SAM_2 # Pfam PF16533 SOAR # Proteomes UP000005640 Chromosome 4 # RecName STIM2_HUMAN Stromal interaction molecule 2 # RefSeq NP_001162588 NM_001169117.1. [Q9P246-3] # RefSeq NP_001162589 NM_001169118.1 # RefSeq NP_065911 NM_020860.3. [Q9P246-1] # SEQUENCE CAUTION STIM2_HUMAN Sequence=BAA96006.1; Type=Miscellaneous discrepancy; Note=Unusual initiator. The initiator methionine is coded by a non-canonical CTG leucine codon.; Evidence={ECO 0000305}; Sequence=BAB14545.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; Sequence=BAB14545.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO 0000305}; Sequence=CAB66512.2; Type=Miscellaneous discrepancy; Note=Unusual initiator. The initiator methionine is coded by a non-canonical CTG leucine codon.; Evidence={ECO 0000305}; # SIMILARITY Contains 1 EF-hand domain. {ECO 0000305}. # SIMILARITY Contains 1 SAM (sterile alpha motif) domain. {ECO:0000255|PROSITE-ProRule PRU00184}. # SUBCELLULAR LOCATION STIM2_HUMAN Endoplasmic reticulum membrane {ECO 0000269|PubMed 16860747, ECO 0000269|PubMed 17905723, ECO 0000269|PubMed 18160041}; Single-pass type I membrane protein {ECO 0000269|PubMed 16860747, ECO 0000269|PubMed 17905723, ECO 0000269|PubMed 18160041}. Note=Dynamically translocates from a uniform endoplasmic reticulum distribution to punctual endoplasmic reticulum-plasma membrane junctions in response to decrease in endoplasmic reticulum Ca(2+) concentration. # SUBUNIT STIM2_HUMAN Oligomer with STIM1. Interacts with ORAI1. {ECO 0000269|PubMed 11463338, ECO 0000269|PubMed 17905723, ECO 0000269|PubMed 21217057}. # SUPFAM SSF47769 SSF47769 # TCDB 1.A.52.1 the ca(2+) release-activated ca(2+) (crac) channel (crac-c) family # TISSUE SPECIFICITY Expressed in all tissues and tumor cell lines examined. {ECO:0000269|PubMed 11463338}. # UCSC uc003gsg human. [Q9P246-1] # eggNOG ENOG410XRM6 LUCA # eggNOG KOG4403 Eukaryota BLAST swissprot:STIM2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:STIM2_HUMAN BioCyc ZFISH:ENSG00000109689-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000109689-MONOMER COXPRESdb 57620 http://coxpresdb.jp/data/gene/57620.shtml CleanEx HS_STIM2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_STIM2 DOI 10.1016/j.bbrc.2007.12.129 http://dx.doi.org/10.1016/j.bbrc.2007.12.129 DOI 10.1016/j.cell.2007.11.039 http://dx.doi.org/10.1016/j.cell.2007.11.039 DOI 10.1016/j.cell.2012.01.055 http://dx.doi.org/10.1016/j.cell.2012.01.055 DOI 10.1016/j.cub.2005.05.055 http://dx.doi.org/10.1016/j.cub.2005.05.055 DOI 10.1016/j.cub.2006.05.051 http://dx.doi.org/10.1016/j.cub.2006.05.051 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1042/0264-6021:3570673 http://dx.doi.org/10.1042/0264-6021:3570673 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1073/pnas.1015125108 http://dx.doi.org/10.1073/pnas.1015125108 DOI 10.1074/jbc.C800178200 http://dx.doi.org/10.1074/jbc.C800178200 DOI 10.1093/dnares/7.2.143 http://dx.doi.org/10.1093/dnares/7.2.143 DOI 10.1096/fj.07-9449com http://dx.doi.org/10.1096/fj.07-9449com DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1101/gr.GR1547R http://dx.doi.org/10.1101/gr.GR1547R DOI 10.1113/jphysiol.2012.245399 http://dx.doi.org/10.1113/jphysiol.2012.245399 DOI 10.1126/scisignal.2001570 http://dx.doi.org/10.1126/scisignal.2001570 EMBL AB040915 http://www.ebi.ac.uk/ena/data/view/AB040915 EMBL AF328905 http://www.ebi.ac.uk/ena/data/view/AF328905 EMBL AK023369 http://www.ebi.ac.uk/ena/data/view/AK023369 EMBL AL136577 http://www.ebi.ac.uk/ena/data/view/AL136577 EMBL BC015659 http://www.ebi.ac.uk/ena/data/view/BC015659 EMBL BC057231 http://www.ebi.ac.uk/ena/data/view/BC057231 EMBL BC136449 http://www.ebi.ac.uk/ena/data/view/BC136449 EMBL BC146661 http://www.ebi.ac.uk/ena/data/view/BC146661 EMBL BC152554 http://www.ebi.ac.uk/ena/data/view/BC152554 EMBL BC171766 http://www.ebi.ac.uk/ena/data/view/BC171766 Ensembl ENST00000412829 http://www.ensembl.org/id/ENST00000412829 Ensembl ENST00000467087 http://www.ensembl.org/id/ENST00000467087 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GO_component GO:0005789 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005789 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005246 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005246 GO_function GO:0005509 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005509 GO_function GO:0015279 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015279 GO_process GO:0002115 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002115 GO_process GO:0006874 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006874 GO_process GO:0032237 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032237 GO_process GO:0051928 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051928 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 Gene3D 1.10.150.50 http://www.cathdb.info/version/latest/superfamily/1.10.150.50 GeneCards STIM2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=STIM2 GeneID 57620 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=57620 HGNC HGNC:19205 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:19205 HOGENOM HOG000261647 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000261647&db=HOGENOM6 HOVERGEN HBG079219 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG079219&db=HOVERGEN HPA CAB037196 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB037196 HPA HPA036933 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA036933 HPA HPA057511 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA057511 InParanoid Q9P246 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9P246 IntAct Q9P246 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9P246* InterPro IPR001660 http://www.ebi.ac.uk/interpro/entry/IPR001660 InterPro IPR013761 http://www.ebi.ac.uk/interpro/entry/IPR013761 InterPro IPR032393 http://www.ebi.ac.uk/interpro/entry/IPR032393 Jabion 57620 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=57620 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Gene hsa:57620 http://www.genome.jp/dbget-bin/www_bget?hsa:57620 KEGG_Orthology KO:K16059 http://www.genome.jp/dbget-bin/www_bget?KO:K16059 KEGG_Pathway ko04020 http://www.genome.jp/kegg-bin/show_pathway?ko04020 MIM 610841 http://www.ncbi.nlm.nih.gov/omim/610841 MINT MINT-1195661 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1195661 PDB 2L5Y http://www.ebi.ac.uk/pdbe-srv/view/entry/2L5Y PDBsum 2L5Y http://www.ebi.ac.uk/pdbsum/2L5Y PROSITE PS50105 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50105 PSORT swissprot:STIM2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:STIM2_HUMAN PSORT-B swissprot:STIM2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:STIM2_HUMAN PSORT2 swissprot:STIM2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:STIM2_HUMAN Pfam PF07647 http://pfam.xfam.org/family/PF07647 Pfam PF16533 http://pfam.xfam.org/family/PF16533 PharmGKB PA134926985 http://www.pharmgkb.org/do/serve?objId=PA134926985&objCls=Gene Phobius swissprot:STIM2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:STIM2_HUMAN PhylomeDB Q9P246 http://phylomedb.org/?seqid=Q9P246 ProteinModelPortal Q9P246 http://www.proteinmodelportal.org/query/uniprot/Q9P246 PubMed 10819331 http://www.ncbi.nlm.nih.gov/pubmed/10819331 PubMed 11230166 http://www.ncbi.nlm.nih.gov/pubmed/11230166 PubMed 11463338 http://www.ncbi.nlm.nih.gov/pubmed/11463338 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16005298 http://www.ncbi.nlm.nih.gov/pubmed/16005298 PubMed 16860747 http://www.ncbi.nlm.nih.gov/pubmed/16860747 PubMed 17905723 http://www.ncbi.nlm.nih.gov/pubmed/17905723 PubMed 18160041 http://www.ncbi.nlm.nih.gov/pubmed/18160041 PubMed 18166150 http://www.ncbi.nlm.nih.gov/pubmed/18166150 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 19019825 http://www.ncbi.nlm.nih.gov/pubmed/19019825 PubMed 21217057 http://www.ncbi.nlm.nih.gov/pubmed/21217057 PubMed 21406692 http://www.ncbi.nlm.nih.gov/pubmed/21406692 PubMed 22464749 http://www.ncbi.nlm.nih.gov/pubmed/22464749 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 23359669 http://www.ncbi.nlm.nih.gov/pubmed/23359669 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 RefSeq NP_001162588 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001162588 RefSeq NP_001162589 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001162589 RefSeq NP_065911 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_065911 SMR Q9P246 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9P246 STRING 9606.ENSP00000417569 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000417569&targetmode=cogs SUPFAM SSF47769 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF47769 TCDB 1.A.52.1 http://www.tcdb.org/search/result.php?tc=1.A.52.1 UCSC uc003gsg http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003gsg&org=rat UniGene Hs.744950 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.744950 UniProtKB STIM2_HUMAN http://www.uniprot.org/uniprot/STIM2_HUMAN UniProtKB-AC Q9P246 http://www.uniprot.org/uniprot/Q9P246 charge swissprot:STIM2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:STIM2_HUMAN eggNOG ENOG410XRM6 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XRM6 eggNOG KOG4403 http://eggnogapi.embl.de/nog_data/html/tree/KOG4403 epestfind swissprot:STIM2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:STIM2_HUMAN garnier swissprot:STIM2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:STIM2_HUMAN helixturnhelix swissprot:STIM2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:STIM2_HUMAN hmoment swissprot:STIM2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:STIM2_HUMAN iep swissprot:STIM2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:STIM2_HUMAN inforesidue swissprot:STIM2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:STIM2_HUMAN neXtProt NX_Q9P246 http://www.nextprot.org/db/entry/NX_Q9P246 octanol swissprot:STIM2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:STIM2_HUMAN pepcoil swissprot:STIM2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:STIM2_HUMAN pepdigest swissprot:STIM2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:STIM2_HUMAN pepinfo swissprot:STIM2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:STIM2_HUMAN pepnet swissprot:STIM2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:STIM2_HUMAN pepstats swissprot:STIM2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:STIM2_HUMAN pepwheel swissprot:STIM2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:STIM2_HUMAN pepwindow swissprot:STIM2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:STIM2_HUMAN sigcleave swissprot:STIM2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:STIM2_HUMAN ## Database ID URL or Descriptions # AltName ABCA4_HUMAN ATP-binding cassette sub-family A member 4 # AltName ABCA4_HUMAN RIM ABC transporter # AltName ABCA4_HUMAN Stargardt disease protein # ChiTaRS ABCA4 human # DISEASE ABCA4_HUMAN Cone-rod dystrophy 3 (CORD3) [MIM 604116] An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa. {ECO 0000269|PubMed 10958761, ECO 0000269|PubMed 11385708, ECO 0000269|PubMed 11527935}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE ABCA4_HUMAN Fundus flavimaculatus (FFM) [MIM 248200] Autosomal recessive retinal disorder very similar to Stargardt disease. In contrast to Stargardt disease, FFM is characterized by later onset and slowly progressive course. {ECO 0000269|PubMed 11379881, ECO 0000269|PubMed 11385708, ECO 0000269|PubMed 9781034}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE ABCA4_HUMAN Macular degeneration, age-related, 2 (ARMD2) [MIM 153800] A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane. {ECO 0000269|PubMed 19028736, ECO 0000269|PubMed 9295268}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. # DISEASE ABCA4_HUMAN Retinitis pigmentosa 19 (RP19) [MIM 601718] A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP19 is characterized by choroidal atrophy. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE ABCA4_HUMAN Stargardt disease 1 (STGD1) [MIM 248200] A common hereditary macular degeneration. It is characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina. {ECO 0000269|PubMed 10090887, ECO 0000269|PubMed 10206579, ECO 0000269|PubMed 10612508, ECO 0000269|PubMed 10634594, ECO 0000269|PubMed 10711710, ECO 0000269|PubMed 10746567, ECO 0000269|PubMed 10958763, ECO 0000269|PubMed 11328725, ECO 0000269|PubMed 11385708, ECO 0000269|PubMed 11527935, ECO 0000269|PubMed 11594993, ECO 0000269|PubMed 18977788, ECO 0000269|PubMed 24444108, ECO 0000269|PubMed 9054934, ECO 0000269|PubMed 9490294, ECO 0000269|PubMed 9503029, ECO 0000269|PubMed 9781034, ECO 0000269|PubMed 9973280}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000370225 ENSP00000359245; ENSG00000198691 # ExpressionAtlas P78363 baseline and differential # FUNCTION ABCA4_HUMAN In the visual cycle, acts as an inward-directed retinoid flipase, retinoid substrates imported by ABCA4 from the extracellular or intradiscal (rod) membrane surfaces to the cytoplasmic membrane surface are all-trans-retinaldehyde (ATR) and N-retinyl-phosphatidyl-ethanolamine (NR-PE). Once transported to the cytoplasmic surface, ATR is reduced to vitamin A by trans- retinol dehydrogenase (tRDH) and then transferred to the retinal pigment epithelium (RPE) where it is converted to 11-cis-retinal. May play a role in photoresponse, removing ATR/NR-PE from the extracellular photoreceptor surfaces during bleach recovery. {ECO 0000269|PubMed 10075733}. # GO_component GO:0005887 integral component of plasma membrane; IEA:InterPro. # GO_component GO:0016020 membrane; TAS:ProtInc. # GO_component GO:0043231 intracellular membrane-bounded organelle; IBA:GO_Central. # GO_component GO:0097381 photoreceptor disc membrane; TAS:Reactome. # GO_function GO:0005215 transporter activity; TAS:ProtInc. # GO_function GO:0005395 eye pigment precursor transporter activity; TAS:Reactome. # GO_function GO:0005524 ATP binding; TAS:ProtInc. # GO_function GO:0016887 ATPase activity; IDA:BHF-UCL. # GO_function GO:0042626 ATPase activity, coupled to transmembrane movement of substances; TAS:ProtInc. # GO_function GO:0090555 phosphatidylethanolamine-translocating ATPase activity; IDA:BHF-UCL. # GO_process GO:0001523 retinoid metabolic process; TAS:Reactome. # GO_process GO:0006649 phospholipid transfer to membrane; IEA:Ensembl. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0006869 lipid transport; IBA:GO_Central. # GO_process GO:0007601 visual perception; TAS:ProtInc. # GO_process GO:0007603 phototransduction, visible light; TAS:ProtInc. # GO_process GO:0045332 phospholipid translocation; IDA:BHF-UCL. # GO_process GO:0045494 photoreceptor cell maintenance; IEA:Ensembl. # GO_process GO:0055085 transmembrane transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006629 lipid metabolic process # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0050877 neurological system process # GOslim_process GO:0055085 transmembrane transport # GOslim_process GO:0061024 membrane organization # Gene3D 3.40.50.300 -; 2. # Genevisible P78363 HS # HGNC HGNC:34 ABCA4 # InterPro IPR003439 ABC_transporter-like # InterPro IPR003593 AAA+_ATPase # InterPro IPR005951 ABCA4/ABCR # InterPro IPR017871 ABC_transporter_CS # InterPro IPR026082 ABC_A # InterPro IPR027417 P-loop_NTPase # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02000 Transporters # KEGG_Disease H00481 [Inherited metabolic disease; Nervous system disease; Eye disease] Retinal cone dystrophy (RCD) # KEGG_Disease H00527 [Inherited metabolic disease; Nervous system disease; Eye disease] Retinitis pigmentosa (RP) # KEGG_Disease H00819 [Nervous system disease; Eye disease] Fundus flavimaculatus # KEGG_Disease H00821 [Nervous system disease; Eye disease] X-linked atrophic macular degeneration (MDXLA) # KEGG_Pathway ko02010 ABC transporters # MIM 153800 phenotype # MIM 248200 phenotype # MIM 601691 gene # MIM 601718 phenotype # MIM 604116 phenotype # Organism ABCA4_HUMAN Homo sapiens (Human) # Orphanet 1872 Cone rod dystrophy # Orphanet 279 Age-related macular degeneration # Orphanet 791 Retinitis pigmentosa # Orphanet 827 Stargardt disease # PANTHER PTHR19229 PTHR19229; 6 # PANTHER PTHR19229:SF97 PTHR19229:SF97; 6 # PROSITE PS00211 ABC_TRANSPORTER_1 # PROSITE PS50893 ABC_TRANSPORTER_2; 2 # Pfam PF00005 ABC_tran; 2 # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-2453902 The canonical retinoid cycle in rods (twilight vision) # Reactome R-HSA-382556 ABC-family proteins mediated transport # RecName ABCA4_HUMAN Retinal-specific ATP-binding cassette transporter # RefSeq NP_000341 NM_000350.2 # SEQUENCE CAUTION Sequence=BAE06122.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the ABC transporter superfamily. ABCA family. {ECO 0000305}. # SIMILARITY Contains 2 ABC transporter domains. {ECO:0000255|PROSITE-ProRule PRU00434}. # SMART SM00382 AAA; 2 # SUBCELLULAR LOCATION ABCA4_HUMAN Membrane {ECO 0000269|PubMed 10075733}; Multi-pass membrane protein {ECO 0000269|PubMed 10075733}. Note=Localized to outer segment disk edges of rods and cones, with around one million copies/photoreceptor. # SUPFAM SSF52540 SSF52540; 2 # TCDB 3.A.1.211 the atp-binding cassette (abc) superfamily # TIGRFAMs TIGR01257 rim_protein # TISSUE SPECIFICITY ABCA4_HUMAN Retinal-specific. Seems to be exclusively found in the rims of rod photoreceptor cells. # UCSC uc001dqh human # WEB RESOURCE ABCA4_HUMAN Name=ABCMdb; Note=Database for mutations in ABC proteins; URL="http //abcmutations.hegelab.org/proteinDetails?uniprot_id=P78363"; # WEB RESOURCE ABCA4_HUMAN Name=Mutations of the ABCA4 gene; Note=Retina International's Scientific Newsletter; URL="http //www.retina-international.org/files/sci-news/abcrmut.htm"; # eggNOG COG1131 LUCA # eggNOG KOG0059 Eukaryota BLAST swissprot:ABCA4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ABCA4_HUMAN BioCyc ZFISH:G66-31851-MONOMER http://biocyc.org/getid?id=ZFISH:G66-31851-MONOMER COXPRESdb 24 http://coxpresdb.jp/data/gene/24.shtml CleanEx HS_ABCA4 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ABCA4 DOI 10.1001/archopht.117.4.504 http://dx.doi.org/10.1001/archopht.117.4.504 DOI 10.1001/archopht.119.5.745 http://dx.doi.org/10.1001/archopht.119.5.745 DOI 10.1002/humu.1133 http://dx.doi.org/10.1002/humu.1133 DOI 10.1006/geno.1997.5164 http://dx.doi.org/10.1006/geno.1997.5164 DOI 10.1007/s004390050649 http://dx.doi.org/10.1007/s004390050649 DOI 10.1007/s004390051034 http://dx.doi.org/10.1007/s004390051034 DOI 10.1007/s004390100493 http://dx.doi.org/10.1007/s004390100493 DOI 10.1007/s100380200041 http://dx.doi.org/10.1007/s100380200041 DOI 10.1016/S0002-9394(01)00838-8 http://dx.doi.org/10.1016/S0002-9394(01)00838-8 DOI 10.1016/S0002-9394(99)00236-6 http://dx.doi.org/10.1016/S0002-9394(99)00236-6 DOI 10.1016/S0014-5793(97)00517-6 http://dx.doi.org/10.1016/S0014-5793(97)00517-6 DOI 10.1034/j.1600-0420.2001.790520.x http://dx.doi.org/10.1034/j.1600-0420.2001.790520.x DOI 10.1038/79994 http://dx.doi.org/10.1038/79994 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1038/ng0397-236 http://dx.doi.org/10.1038/ng0397-236 DOI 10.1038/sj.ejhg.5200221 http://dx.doi.org/10.1038/sj.ejhg.5200221 DOI 10.1074/jbc.274.12.8269 http://dx.doi.org/10.1074/jbc.274.12.8269 DOI 10.1074/jbc.M101902200 http://dx.doi.org/10.1074/jbc.M101902200 DOI 10.1086/302251 http://dx.doi.org/10.1086/302251 DOI 10.1086/302323 http://dx.doi.org/10.1086/302323 DOI 10.1086/303018 http://dx.doi.org/10.1086/303018 DOI 10.1086/303079 http://dx.doi.org/10.1086/303079 DOI 10.1086/303090 http://dx.doi.org/10.1086/303090 DOI 10.1093/hmg/7.3.355 http://dx.doi.org/10.1093/hmg/7.3.355 DOI 10.1126/science.1133427 http://dx.doi.org/10.1126/science.1133427 DOI 10.1126/science.277.5333.1805 http://dx.doi.org/10.1126/science.277.5333.1805 DOI 10.1136/bjo.2008.145193 http://dx.doi.org/10.1136/bjo.2008.145193 DOI 10.1136/bjo.2008.148155 http://dx.doi.org/10.1136/bjo.2008.148155 DOI 10.1186/1471-2164-8-42 http://dx.doi.org/10.1186/1471-2164-8-42 DOI 10.1186/1471-2350-15-11 http://dx.doi.org/10.1186/1471-2350-15-11 EMBL AB210040 http://www.ebi.ac.uk/ena/data/view/AB210040 EMBL AC093579 http://www.ebi.ac.uk/ena/data/view/AC093579 EMBL AC105278 http://www.ebi.ac.uk/ena/data/view/AC105278 EMBL AF000148 http://www.ebi.ac.uk/ena/data/view/AF000148 EMBL AF001945 http://www.ebi.ac.uk/ena/data/view/AF001945 EMBL DQ426859 http://www.ebi.ac.uk/ena/data/view/DQ426859 EMBL U88667 http://www.ebi.ac.uk/ena/data/view/U88667 EMBL Y15635 http://www.ebi.ac.uk/ena/data/view/Y15635 EMBL Y15636 http://www.ebi.ac.uk/ena/data/view/Y15636 EMBL Y15637 http://www.ebi.ac.uk/ena/data/view/Y15637 EMBL Y15638 http://www.ebi.ac.uk/ena/data/view/Y15638 EMBL Y15639 http://www.ebi.ac.uk/ena/data/view/Y15639 EMBL Y15640 http://www.ebi.ac.uk/ena/data/view/Y15640 EMBL Y15641 http://www.ebi.ac.uk/ena/data/view/Y15641 EMBL Y15642 http://www.ebi.ac.uk/ena/data/view/Y15642 EMBL Y15643 http://www.ebi.ac.uk/ena/data/view/Y15643 EMBL Y15644 http://www.ebi.ac.uk/ena/data/view/Y15644 EMBL Y15645 http://www.ebi.ac.uk/ena/data/view/Y15645 EMBL Y15646 http://www.ebi.ac.uk/ena/data/view/Y15646 EMBL Y15647 http://www.ebi.ac.uk/ena/data/view/Y15647 EMBL Y15648 http://www.ebi.ac.uk/ena/data/view/Y15648 EMBL Y15649 http://www.ebi.ac.uk/ena/data/view/Y15649 EMBL Y15650 http://www.ebi.ac.uk/ena/data/view/Y15650 EMBL Y15651 http://www.ebi.ac.uk/ena/data/view/Y15651 EMBL Y15652 http://www.ebi.ac.uk/ena/data/view/Y15652 EMBL Y15653 http://www.ebi.ac.uk/ena/data/view/Y15653 EMBL Y15654 http://www.ebi.ac.uk/ena/data/view/Y15654 EMBL Y15655 http://www.ebi.ac.uk/ena/data/view/Y15655 EMBL Y15656 http://www.ebi.ac.uk/ena/data/view/Y15656 EMBL Y15657 http://www.ebi.ac.uk/ena/data/view/Y15657 EMBL Y15658 http://www.ebi.ac.uk/ena/data/view/Y15658 EMBL Y15659 http://www.ebi.ac.uk/ena/data/view/Y15659 EMBL Y15660 http://www.ebi.ac.uk/ena/data/view/Y15660 EMBL Y15661 http://www.ebi.ac.uk/ena/data/view/Y15661 EMBL Y15662 http://www.ebi.ac.uk/ena/data/view/Y15662 EMBL Y15663 http://www.ebi.ac.uk/ena/data/view/Y15663 EMBL Y15664 http://www.ebi.ac.uk/ena/data/view/Y15664 EMBL Y15665 http://www.ebi.ac.uk/ena/data/view/Y15665 EMBL Y15666 http://www.ebi.ac.uk/ena/data/view/Y15666 EMBL Y15667 http://www.ebi.ac.uk/ena/data/view/Y15667 EMBL Y15668 http://www.ebi.ac.uk/ena/data/view/Y15668 EMBL Y15669 http://www.ebi.ac.uk/ena/data/view/Y15669 EMBL Y15670 http://www.ebi.ac.uk/ena/data/view/Y15670 EMBL Y15671 http://www.ebi.ac.uk/ena/data/view/Y15671 EMBL Y15672 http://www.ebi.ac.uk/ena/data/view/Y15672 EMBL Y15673 http://www.ebi.ac.uk/ena/data/view/Y15673 EMBL Y15674 http://www.ebi.ac.uk/ena/data/view/Y15674 EMBL Y15675 http://www.ebi.ac.uk/ena/data/view/Y15675 EMBL Y15676 http://www.ebi.ac.uk/ena/data/view/Y15676 EMBL Y15677 http://www.ebi.ac.uk/ena/data/view/Y15677 EMBL Y15678 http://www.ebi.ac.uk/ena/data/view/Y15678 EMBL Y15679 http://www.ebi.ac.uk/ena/data/view/Y15679 EMBL Y15680 http://www.ebi.ac.uk/ena/data/view/Y15680 EMBL Y15681 http://www.ebi.ac.uk/ena/data/view/Y15681 EMBL Y15682 http://www.ebi.ac.uk/ena/data/view/Y15682 EMBL Y15683 http://www.ebi.ac.uk/ena/data/view/Y15683 EMBL Y15684 http://www.ebi.ac.uk/ena/data/view/Y15684 Ensembl ENST00000370225 http://www.ensembl.org/id/ENST00000370225 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0043231 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043231 GO_component GO:0097381 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097381 GO_function GO:0005215 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005215 GO_function GO:0005395 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005395 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GO_function GO:0042626 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042626 GO_function GO:0090555 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090555 GO_process GO:0001523 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001523 GO_process GO:0006649 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006649 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0006869 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006869 GO_process GO:0007601 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007601 GO_process GO:0007603 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007603 GO_process GO:0045332 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045332 GO_process GO:0045494 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045494 GO_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006629 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006629 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GOslim_process GO:0061024 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061024 Gene3D 3.40.50.300 http://www.cathdb.info/version/latest/superfamily/3.40.50.300 GeneCards ABCA4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ABCA4 GeneID 24 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=24 GeneTree ENSGT00760000118965 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118965 H-InvDB HIX0028510 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0028510 HGNC HGNC:34 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:34 HOGENOM HOG000231547 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231547&db=HOGENOM6 HOVERGEN HBG050436 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050436&db=HOVERGEN InParanoid P78363 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P78363 InterPro IPR003439 http://www.ebi.ac.uk/interpro/entry/IPR003439 InterPro IPR003593 http://www.ebi.ac.uk/interpro/entry/IPR003593 InterPro IPR005951 http://www.ebi.ac.uk/interpro/entry/IPR005951 InterPro IPR017871 http://www.ebi.ac.uk/interpro/entry/IPR017871 InterPro IPR026082 http://www.ebi.ac.uk/interpro/entry/IPR026082 InterPro IPR027417 http://www.ebi.ac.uk/interpro/entry/IPR027417 Jabion 24 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=24 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Disease H00481 http://www.genome.jp/dbget-bin/www_bget?H00481 KEGG_Disease H00527 http://www.genome.jp/dbget-bin/www_bget?H00527 KEGG_Disease H00819 http://www.genome.jp/dbget-bin/www_bget?H00819 KEGG_Disease H00821 http://www.genome.jp/dbget-bin/www_bget?H00821 KEGG_Gene hsa:24 http://www.genome.jp/dbget-bin/www_bget?hsa:24 KEGG_Orthology KO:K05644 http://www.genome.jp/dbget-bin/www_bget?KO:K05644 KEGG_Pathway ko02010 http://www.genome.jp/kegg-bin/show_pathway?ko02010 MIM 153800 http://www.ncbi.nlm.nih.gov/omim/153800 MIM 248200 http://www.ncbi.nlm.nih.gov/omim/248200 MIM 601691 http://www.ncbi.nlm.nih.gov/omim/601691 MIM 601718 http://www.ncbi.nlm.nih.gov/omim/601718 MIM 604116 http://www.ncbi.nlm.nih.gov/omim/604116 OMA RHPCLGP http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=RHPCLGP Orphanet 1872 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1872 Orphanet 279 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=279 Orphanet 791 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=791 Orphanet 827 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=827 OrthoDB EOG091G007E http://cegg.unige.ch/orthodb/results?searchtext=EOG091G007E PANTHER PTHR19229 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR19229 PANTHER PTHR19229:SF97 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR19229:SF97 PROSITE PS00211 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00211 PROSITE PS50893 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50893 PSORT swissprot:ABCA4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ABCA4_HUMAN PSORT-B swissprot:ABCA4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ABCA4_HUMAN PSORT2 swissprot:ABCA4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ABCA4_HUMAN Pfam PF00005 http://pfam.xfam.org/family/PF00005 PharmGKB PA24379 http://www.pharmgkb.org/do/serve?objId=PA24379&objCls=Gene Phobius swissprot:ABCA4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ABCA4_HUMAN PhylomeDB P78363 http://phylomedb.org/?seqid=P78363 ProteinModelPortal P78363 http://www.proteinmodelportal.org/query/uniprot/P78363 PubMed 10075733 http://www.ncbi.nlm.nih.gov/pubmed/10075733 PubMed 10090887 http://www.ncbi.nlm.nih.gov/pubmed/10090887 PubMed 10206579 http://www.ncbi.nlm.nih.gov/pubmed/10206579 PubMed 10612508 http://www.ncbi.nlm.nih.gov/pubmed/10612508 PubMed 10634594 http://www.ncbi.nlm.nih.gov/pubmed/10634594 PubMed 10711710 http://www.ncbi.nlm.nih.gov/pubmed/10711710 PubMed 10746567 http://www.ncbi.nlm.nih.gov/pubmed/10746567 PubMed 10880298 http://www.ncbi.nlm.nih.gov/pubmed/10880298 PubMed 10958761 http://www.ncbi.nlm.nih.gov/pubmed/10958761 PubMed 10958763 http://www.ncbi.nlm.nih.gov/pubmed/10958763 PubMed 11017087 http://www.ncbi.nlm.nih.gov/pubmed/11017087 PubMed 11320094 http://www.ncbi.nlm.nih.gov/pubmed/11320094 PubMed 11328725 http://www.ncbi.nlm.nih.gov/pubmed/11328725 PubMed 11346402 http://www.ncbi.nlm.nih.gov/pubmed/11346402 PubMed 11379881 http://www.ncbi.nlm.nih.gov/pubmed/11379881 PubMed 11384574 http://www.ncbi.nlm.nih.gov/pubmed/11384574 PubMed 11385708 http://www.ncbi.nlm.nih.gov/pubmed/11385708 PubMed 11527935 http://www.ncbi.nlm.nih.gov/pubmed/11527935 PubMed 11594993 http://www.ncbi.nlm.nih.gov/pubmed/11594993 PubMed 12111378 http://www.ncbi.nlm.nih.gov/pubmed/12111378 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 16959974 http://www.ncbi.nlm.nih.gov/pubmed/16959974 PubMed 17286855 http://www.ncbi.nlm.nih.gov/pubmed/17286855 PubMed 18977788 http://www.ncbi.nlm.nih.gov/pubmed/18977788 PubMed 19028736 http://www.ncbi.nlm.nih.gov/pubmed/19028736 PubMed 24444108 http://www.ncbi.nlm.nih.gov/pubmed/24444108 PubMed 9054934 http://www.ncbi.nlm.nih.gov/pubmed/9054934 PubMed 9202155 http://www.ncbi.nlm.nih.gov/pubmed/9202155 PubMed 9295268 http://www.ncbi.nlm.nih.gov/pubmed/9295268 PubMed 9466990 http://www.ncbi.nlm.nih.gov/pubmed/9466990 PubMed 9490294 http://www.ncbi.nlm.nih.gov/pubmed/9490294 PubMed 9503029 http://www.ncbi.nlm.nih.gov/pubmed/9503029 PubMed 9781034 http://www.ncbi.nlm.nih.gov/pubmed/9781034 PubMed 9973280 http://www.ncbi.nlm.nih.gov/pubmed/9973280 Reactome R-HSA-2453902 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2453902 Reactome R-HSA-382556 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-382556 RefSeq NP_000341 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000341 SMART SM00382 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00382 SMR P78363 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P78363 STRING 9606.ENSP00000359245 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000359245&targetmode=cogs SUPFAM SSF52540 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52540 TCDB 3.A.1.211 http://www.tcdb.org/search/result.php?tc=3.A.1.211 TIGRFAMs TIGR01257 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01257 UCSC uc001dqh http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001dqh&org=rat UniGene Hs.416707 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.416707 UniProtKB ABCA4_HUMAN http://www.uniprot.org/uniprot/ABCA4_HUMAN UniProtKB-AC P78363 http://www.uniprot.org/uniprot/P78363 charge swissprot:ABCA4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ABCA4_HUMAN eggNOG COG1131 http://eggnogapi.embl.de/nog_data/html/tree/COG1131 eggNOG KOG0059 http://eggnogapi.embl.de/nog_data/html/tree/KOG0059 epestfind swissprot:ABCA4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ABCA4_HUMAN garnier swissprot:ABCA4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ABCA4_HUMAN helixturnhelix swissprot:ABCA4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ABCA4_HUMAN hmoment swissprot:ABCA4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ABCA4_HUMAN iep swissprot:ABCA4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ABCA4_HUMAN inforesidue swissprot:ABCA4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ABCA4_HUMAN neXtProt NX_P78363 http://www.nextprot.org/db/entry/NX_P78363 octanol swissprot:ABCA4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ABCA4_HUMAN pepcoil swissprot:ABCA4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ABCA4_HUMAN pepdigest swissprot:ABCA4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ABCA4_HUMAN pepinfo swissprot:ABCA4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ABCA4_HUMAN pepnet swissprot:ABCA4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ABCA4_HUMAN pepstats swissprot:ABCA4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ABCA4_HUMAN pepwheel swissprot:ABCA4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ABCA4_HUMAN pepwindow swissprot:ABCA4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ABCA4_HUMAN sigcleave swissprot:ABCA4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ABCA4_HUMAN ## Database ID URL or Descriptions # AltName S7A14_HUMAN Solute carrier family 7 member 14 # DISEASE S7A14_HUMAN Retinitis pigmentosa 68 (RP68) [MIM 615725] A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO 0000269|PubMed 24670872}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000231706 ENSP00000231706; ENSG00000013293 # FUNCTION S7A14_HUMAN May be involved in arginine transport. {ECO 0000269|PubMed 22787143, ECO 0000269|PubMed 24670872}. # GO_component GO:0005765 lysosomal membrane; IEA:UniProtKB-SubCell. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_function GO:0015179 L-amino acid transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015297 antiporter activity; IBA:GO_Central. # GO_process GO:0010923 negative regulation of phosphatase activity; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0008150 biological_process # Genevisible Q8TBB6 HS # HGNC HGNC:29326 SLC7A14 # IntAct Q8TBB6 2 # InterPro IPR002293 AA/rel_permease1 # InterPro IPR029485 CAT_C # KEGG_Brite ko02001 Solute carrier family # MIM 615720 gene # MIM 615725 phenotype # Organism S7A14_HUMAN Homo sapiens (Human) # Orphanet 791 Retinitis pigmentosa # PANTHER PTHR11785 PTHR11785; 2 # Pfam PF13520 AA_permease_2 # Pfam PF13906 AA_permease_C # Proteomes UP000005640 Chromosome 3 # RecName S7A14_HUMAN Probable cationic amino acid transporter # RefSeq NP_066000 NM_020949.2 # SEQUENCE CAUTION Sequence=BAB13439.1; Type=Erroneous termination; Positions=765; Note=Translated as Glu.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the amino acid-polyamine-organocation (APC) superfamily. Cationic amino acid transporter (CAT) (TC 2.A.3.3) family. {ECO 0000305}. # SUBCELLULAR LOCATION S7A14_HUMAN Lysosome membrane {ECO 0000269|PubMed 22787143, ECO 0000269|PubMed 24670872}; Multi- pass membrane protein {ECO 0000269|PubMed 22787143, ECO 0000269|PubMed 24670872}. Note=Exhibits a punctated pattern in the cytoplasm, which partially ovelaps with lysosomes. # TCDB 2.A.3.3 the amino acid-polyamine-organocation (apc) family # TISSUE SPECIFICITY Expressed in skin fibroblasts. {ECO:0000269|PubMed 22787143}. # UCSC uc003fgz human # eggNOG COG0531 LUCA # eggNOG KOG1286 Eukaryota BLAST swissprot:S7A14_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S7A14_HUMAN BioCyc ZFISH:ENSG00000013293-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000013293-MONOMER COXPRESdb 57709 http://coxpresdb.jp/data/gene/57709.shtml CleanEx HS_SLC7A14 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC7A14 DOI 10.1038/nature04728 http://dx.doi.org/10.1038/nature04728 DOI 10.1038/ncomms4517 http://dx.doi.org/10.1038/ncomms4517 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.M112.350322 http://dx.doi.org/10.1074/jbc.M112.350322 DOI 10.1093/dnares/7.4.271 http://dx.doi.org/10.1093/dnares/7.4.271 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AB046833 http://www.ebi.ac.uk/ena/data/view/AB046833 EMBL AC008041 http://www.ebi.ac.uk/ena/data/view/AC008041 EMBL AK122655 http://www.ebi.ac.uk/ena/data/view/AK122655 EMBL BC022968 http://www.ebi.ac.uk/ena/data/view/BC022968 Ensembl ENST00000231706 http://www.ensembl.org/id/ENST00000231706 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005765 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005765 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0015179 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015179 GO_function GO:0015297 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015297 GO_process GO:0010923 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010923 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GeneCards SLC7A14 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC7A14 GeneID 57709 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=57709 GeneTree ENSGT00760000119151 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119151 HGNC HGNC:29326 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:29326 HOGENOM HOG000250623 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000250623&db=HOGENOM6 HOVERGEN HBG000280 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG000280&db=HOVERGEN HPA HPA045929 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA045929 InParanoid Q8TBB6 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8TBB6 IntAct Q8TBB6 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q8TBB6* InterPro IPR002293 http://www.ebi.ac.uk/interpro/entry/IPR002293 InterPro IPR029485 http://www.ebi.ac.uk/interpro/entry/IPR029485 Jabion 57709 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=57709 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:57709 http://www.genome.jp/dbget-bin/www_bget?hsa:57709 KEGG_Orthology KO:K13871 http://www.genome.jp/dbget-bin/www_bget?KO:K13871 MIM 615720 http://www.ncbi.nlm.nih.gov/omim/615720 MIM 615725 http://www.ncbi.nlm.nih.gov/omim/615725 OMA ESQENWG http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=ESQENWG Orphanet 791 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=791 OrthoDB EOG091G05NM http://cegg.unige.ch/orthodb/results?searchtext=EOG091G05NM PANTHER PTHR11785 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11785 PSORT swissprot:S7A14_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S7A14_HUMAN PSORT-B swissprot:S7A14_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S7A14_HUMAN PSORT2 swissprot:S7A14_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S7A14_HUMAN Pfam PF13520 http://pfam.xfam.org/family/PF13520 Pfam PF13906 http://pfam.xfam.org/family/PF13906 PharmGKB PA142670913 http://www.pharmgkb.org/do/serve?objId=PA142670913&objCls=Gene Phobius swissprot:S7A14_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S7A14_HUMAN PhylomeDB Q8TBB6 http://phylomedb.org/?seqid=Q8TBB6 ProteinModelPortal Q8TBB6 http://www.proteinmodelportal.org/query/uniprot/Q8TBB6 PubMed 10997877 http://www.ncbi.nlm.nih.gov/pubmed/10997877 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16641997 http://www.ncbi.nlm.nih.gov/pubmed/16641997 PubMed 22787143 http://www.ncbi.nlm.nih.gov/pubmed/22787143 PubMed 24670872 http://www.ncbi.nlm.nih.gov/pubmed/24670872 RefSeq NP_066000 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_066000 STRING 9606.ENSP00000231706 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000231706&targetmode=cogs TCDB 2.A.3.3 http://www.tcdb.org/search/result.php?tc=2.A.3.3 UCSC uc003fgz http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003fgz&org=rat UniGene Hs.596660 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.596660 UniProtKB S7A14_HUMAN http://www.uniprot.org/uniprot/S7A14_HUMAN UniProtKB-AC Q8TBB6 http://www.uniprot.org/uniprot/Q8TBB6 charge swissprot:S7A14_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S7A14_HUMAN eggNOG COG0531 http://eggnogapi.embl.de/nog_data/html/tree/COG0531 eggNOG KOG1286 http://eggnogapi.embl.de/nog_data/html/tree/KOG1286 epestfind swissprot:S7A14_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S7A14_HUMAN garnier swissprot:S7A14_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S7A14_HUMAN helixturnhelix swissprot:S7A14_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S7A14_HUMAN hmoment swissprot:S7A14_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S7A14_HUMAN iep swissprot:S7A14_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S7A14_HUMAN inforesidue swissprot:S7A14_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S7A14_HUMAN neXtProt NX_Q8TBB6 http://www.nextprot.org/db/entry/NX_Q8TBB6 octanol swissprot:S7A14_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S7A14_HUMAN pepcoil swissprot:S7A14_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S7A14_HUMAN pepdigest swissprot:S7A14_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S7A14_HUMAN pepinfo swissprot:S7A14_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S7A14_HUMAN pepnet swissprot:S7A14_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S7A14_HUMAN pepstats swissprot:S7A14_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S7A14_HUMAN pepwheel swissprot:S7A14_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S7A14_HUMAN pepwindow swissprot:S7A14_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S7A14_HUMAN sigcleave swissprot:S7A14_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S7A14_HUMAN ## Database ID URL or Descriptions # AltName NMD3B_HUMAN N-methyl-D-aspartate receptor subtype 3B # BioGrid 125509 2 # DrugBank DB00145 Glycine # DrugBank DB00289 Atomoxetine # DrugBank DB00312 Pentobarbital # DrugBank DB00418 Secobarbital # DrugBank DB00659 Acamprosate # DrugBank DB00996 Gabapentin # DrugBank DB01159 Halothane # DrugBank DB01173 Orphenadrine # DrugBank DB01174 Phenobarbital # DrugBank DB04896 Milnacipran # DrugBank DB06738 Ketobemidone # Ensembl ENST00000234389 ENSP00000234389; ENSG00000116032 # FUNCTION NMD3B_HUMAN NMDA receptor subtype of glutamate-gated ion channels with reduced single-channel conductance, low calcium permeability and low voltage-dependent sensitivity to magnesium. Mediated by glycine. # GO_component GO:0017146 NMDA selective glutamate receptor complex; ISS:UniProtKB. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0043025 neuronal cell body; ISS:UniProtKB. # GO_component GO:0045211 postsynaptic membrane; IEA:UniProtKB-SubCell. # GO_function GO:0004972 NMDA glutamate receptor activity; IBA:GO_Central. # GO_function GO:0005234 extracellular-glutamate-gated ion channel activity; IEA:InterPro. # GO_function GO:0005261 cation channel activity; ISS:UniProtKB. # GO_function GO:0005262 calcium channel activity; IEA:Ensembl. # GO_function GO:0016594 glycine binding; ISS:UniProtKB. # GO_function GO:0030594 neurotransmitter receptor activity; ISS:UniProtKB. # GO_function GO:0042165 neurotransmitter binding; ISS:UniProtKB. # GO_process GO:0035235 ionotropic glutamate receptor signaling pathway; ISS:UniProtKB. # GO_process GO:0051205 protein insertion into membrane; ISS:UniProtKB. # GO_process GO:0051924 regulation of calcium ion transport; ISS:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # Genevisible O60391 HS # HGNC HGNC:16768 GRIN3B # InterPro IPR001320 Iontro_rcpt # InterPro IPR001508 Iono_rcpt_met # InterPro IPR019594 Glu/Gly-bd # InterPro IPR028082 Peripla_BP_I # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04080 Neuroactive ligand-receptor interaction # KEGG_Pathway ko04724 Glutamatergic synapse # KEGG_Pathway ko05030 Cocaine addiction # KEGG_Pathway ko05031 Amphetamine addiction # KEGG_Pathway ko05033 Nicotine addiction # KEGG_Pathway ko05034 Alcoholism # MIM 606651 gene # Organism NMD3B_HUMAN Homo sapiens (Human) # PRINTS PR00177 NMDARECEPTOR # Pfam PF00060 Lig_chan # Pfam PF10613 Lig_chan-Glu_bd # Proteomes UP000005640 Chromosome 19 # RecName NMD3B_HUMAN Glutamate receptor ionotropic, NMDA 3B # RefSeq NP_619635 NM_138690.2 # SEQUENCE CAUTION Sequence=AAC12680.1; Type=Erroneous gene model prediction; Evidence={ECO 0000305}; # SIMILARITY Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. NR3B/GRIN3B subfamily. {ECO 0000305}. # SMART SM00079 PBPe # SMART SM00918 Lig_chan-Glu_bd # SUBCELLULAR LOCATION NMD3B_HUMAN Cell membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. Cell junction, synapse, postsynaptic cell membrane {ECO 0000250}. Note=Requires the presence of GRIN1 to be targeted at the plasma membrane. {ECO 0000250}. # SUBUNIT Forms heteromeric channel of a zeta subunit (GRIN1), a epsilon subunit (GRIN2A, GRIN2B, GRIN2C or GRIN2D) and a third subunit (GRIN3A or GRIN3B). Does not form functional homomeric channels. Found in a complex containing GRIN1 and GRIN2A (By similarity). {ECO 0000250}. # SUPFAM SSF53822 SSF53822 # UCSC uc002lqo human # eggNOG ENOG410XNUR LUCA # eggNOG KOG1053 Eukaryota BLAST swissprot:NMD3B_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:NMD3B_HUMAN BioCyc ZFISH:ENSG00000116032-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000116032-MONOMER COXPRESdb 116444 http://coxpresdb.jp/data/gene/116444.shtml CleanEx HS_GRIN3B http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_GRIN3B DOI 10.1006/geno.2001.6666 http://dx.doi.org/10.1006/geno.2001.6666 DOI 10.1016/j.neulet.2004.11.064 http://dx.doi.org/10.1016/j.neulet.2004.11.064 DOI 10.1038/nature02399 http://dx.doi.org/10.1038/nature02399 DrugBank DB00145 http://www.drugbank.ca/drugs/DB00145 DrugBank DB00289 http://www.drugbank.ca/drugs/DB00289 DrugBank DB00312 http://www.drugbank.ca/drugs/DB00312 DrugBank DB00418 http://www.drugbank.ca/drugs/DB00418 DrugBank DB00659 http://www.drugbank.ca/drugs/DB00659 DrugBank DB00996 http://www.drugbank.ca/drugs/DB00996 DrugBank DB01159 http://www.drugbank.ca/drugs/DB01159 DrugBank DB01173 http://www.drugbank.ca/drugs/DB01173 DrugBank DB01174 http://www.drugbank.ca/drugs/DB01174 DrugBank DB04896 http://www.drugbank.ca/drugs/DB04896 DrugBank DB06738 http://www.drugbank.ca/drugs/DB06738 EMBL AC004528 http://www.ebi.ac.uk/ena/data/view/AC004528 EMBL BK000070 http://www.ebi.ac.uk/ena/data/view/BK000070 EMBL BK004079 http://www.ebi.ac.uk/ena/data/view/BK004079 Ensembl ENST00000234389 http://www.ensembl.org/id/ENST00000234389 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0017146 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0017146 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0043025 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043025 GO_component GO:0045211 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045211 GO_function GO:0004972 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004972 GO_function GO:0005234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005234 GO_function GO:0005261 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005261 GO_function GO:0005262 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005262 GO_function GO:0016594 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016594 GO_function GO:0030594 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030594 GO_function GO:0042165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042165 GO_process GO:0035235 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035235 GO_process GO:0051205 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051205 GO_process GO:0051924 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051924 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GeneCards GRIN3B http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=GRIN3B GeneID 116444 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=116444 GeneTree ENSGT00760000119186 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119186 HGNC HGNC:16768 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:16768 HOGENOM HOG000231528 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231528&db=HOGENOM6 HOVERGEN HBG052634 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052634&db=HOVERGEN HPA CAB004269 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB004269 InParanoid O60391 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O60391 InterPro IPR001320 http://www.ebi.ac.uk/interpro/entry/IPR001320 InterPro IPR001508 http://www.ebi.ac.uk/interpro/entry/IPR001508 InterPro IPR019594 http://www.ebi.ac.uk/interpro/entry/IPR019594 InterPro IPR028082 http://www.ebi.ac.uk/interpro/entry/IPR028082 Jabion 116444 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=116444 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:116444 http://www.genome.jp/dbget-bin/www_bget?hsa:116444 KEGG_Orthology KO:K05214 http://www.genome.jp/dbget-bin/www_bget?KO:K05214 KEGG_Pathway ko04080 http://www.genome.jp/kegg-bin/show_pathway?ko04080 KEGG_Pathway ko04724 http://www.genome.jp/kegg-bin/show_pathway?ko04724 KEGG_Pathway ko05030 http://www.genome.jp/kegg-bin/show_pathway?ko05030 KEGG_Pathway ko05031 http://www.genome.jp/kegg-bin/show_pathway?ko05031 KEGG_Pathway ko05033 http://www.genome.jp/kegg-bin/show_pathway?ko05033 KEGG_Pathway ko05034 http://www.genome.jp/kegg-bin/show_pathway?ko05034 MIM 606651 http://www.ncbi.nlm.nih.gov/omim/606651 MINT MINT-6630966 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-6630966 OMA HLQLDWA http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=HLQLDWA OrthoDB EOG091G00PT http://cegg.unige.ch/orthodb/results?searchtext=EOG091G00PT PRINTS PR00177 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00177 PSORT swissprot:NMD3B_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:NMD3B_HUMAN PSORT-B swissprot:NMD3B_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:NMD3B_HUMAN PSORT2 swissprot:NMD3B_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:NMD3B_HUMAN Pfam PF00060 http://pfam.xfam.org/family/PF00060 Pfam PF10613 http://pfam.xfam.org/family/PF10613 PharmGKB PA28984 http://www.pharmgkb.org/do/serve?objId=PA28984&objCls=Gene Phobius swissprot:NMD3B_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:NMD3B_HUMAN PhylomeDB O60391 http://phylomedb.org/?seqid=O60391 ProteinModelPortal O60391 http://www.proteinmodelportal.org/query/uniprot/O60391 PubMed 11717388 http://www.ncbi.nlm.nih.gov/pubmed/11717388 PubMed 11735224 http://www.ncbi.nlm.nih.gov/pubmed/11735224 PubMed 15057824 http://www.ncbi.nlm.nih.gov/pubmed/15057824 PubMed 15722182 http://www.ncbi.nlm.nih.gov/pubmed/15722182 RefSeq NP_619635 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_619635 SMART SM00079 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00079 SMART SM00918 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00918 STRING 9606.ENSP00000234389 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000234389&targetmode=cogs SUPFAM SSF53822 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF53822 UCSC uc002lqo http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002lqo&org=rat UniGene Hs.660378 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.660378 UniProtKB NMD3B_HUMAN http://www.uniprot.org/uniprot/NMD3B_HUMAN UniProtKB-AC O60391 http://www.uniprot.org/uniprot/O60391 charge swissprot:NMD3B_HUMAN http://rest.g-language.org/emboss/charge/swissprot:NMD3B_HUMAN eggNOG ENOG410XNUR http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XNUR eggNOG KOG1053 http://eggnogapi.embl.de/nog_data/html/tree/KOG1053 epestfind swissprot:NMD3B_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:NMD3B_HUMAN garnier swissprot:NMD3B_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:NMD3B_HUMAN helixturnhelix swissprot:NMD3B_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:NMD3B_HUMAN hmoment swissprot:NMD3B_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:NMD3B_HUMAN iep swissprot:NMD3B_HUMAN http://rest.g-language.org/emboss/iep/swissprot:NMD3B_HUMAN inforesidue swissprot:NMD3B_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:NMD3B_HUMAN neXtProt NX_O60391 http://www.nextprot.org/db/entry/NX_O60391 octanol swissprot:NMD3B_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:NMD3B_HUMAN pepcoil swissprot:NMD3B_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:NMD3B_HUMAN pepdigest swissprot:NMD3B_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:NMD3B_HUMAN pepinfo swissprot:NMD3B_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:NMD3B_HUMAN pepnet swissprot:NMD3B_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:NMD3B_HUMAN pepstats swissprot:NMD3B_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:NMD3B_HUMAN pepwheel swissprot:NMD3B_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:NMD3B_HUMAN pepwindow swissprot:NMD3B_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:NMD3B_HUMAN sigcleave swissprot:NMD3B_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:NMD3B_HUMAN ## Database ID URL or Descriptions # AltName GTR10_HUMAN Glucose transporter type 10 # BIOPHYSICOCHEMICAL PROPERTIES Kinetic parameters KM=0.28 mM for 2-deoxy-D-glucose; # CDD cd06174 MFS # ChiTaRS SLC2A10 human # DISEASE GTR10_HUMAN Arterial tortuosity syndrome (ATS) [MIM 208050] An autosomal recessive disorder characterized by tortuosity and elongation of major arteries, often resulting in death at young age. Other typical features include aneurysms of large arteries and stenosis of the pulmonary artery, in association with facial features and several connective tissue manifestations such as soft skin and joint laxity. Histopathological findings include fragmentation of elastic fibers in the tunica media of large arteries. {ECO 0000269|PubMed 16550171, ECO 0000269|PubMed 17935213}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000359271 ENSP00000352216; ENSG00000197496 # ExpressionAtlas O95528 baseline and differential # FUNCTION GTR10_HUMAN Facilitative glucose transporter. # GO_component GO:0005737 cytoplasm; IDA:HPA. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0012505 endomembrane system; IEA:UniProtKB-SubCell. # GO_component GO:0016021 integral component of membrane; NAS:UniProtKB. # GO_component GO:0048471 perinuclear region of cytoplasm; IEA:UniProtKB-SubCell. # GO_function GO:0005355 glucose transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0055056 D-glucose transmembrane transporter activity; TAS:Reactome. # GO_function GTR10_HUMAN GO 0005351 sugar proton symporter activity; NAS UniProtKB. # GO_process GO:0015758 glucose transport; NAS:UniProtKB. # GO_process GO:0046323 glucose import; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # Genevisible O95528 HS # HGNC HGNC:13444 SLC2A10 # InterPro IPR003663 Sugar/inositol_transpt # InterPro IPR005828 MFS_sugar_transport-like # InterPro IPR005829 Sugar_transporter_CS # InterPro IPR020846 MFS_dom # KEGG_Brite ko02000 Transporters # KEGG_Brite ko02001 Solute carrier family # KEGG_Disease H00919 [Vascular disease] Arterial tortuosity syndrome # MIM 208050 phenotype # MIM 606145 gene # Organism GTR10_HUMAN Homo sapiens (Human) # Orphanet 3342 Arterial tortuosity syndrome # PRINTS PR00171 SUGRTRNSPORT # PROSITE PS00216 SUGAR_TRANSPORT_1; 2 # PROSITE PS50850 MFS # Pfam PF00083 Sugar_tr; 2 # Proteomes UP000005640 Chromosome 20 # Reactome R-HSA-428790 Facilitative Na+-independent glucose transporters # RecName GTR10_HUMAN Solute carrier family 2, facilitated glucose transporter member 10 # RefSeq NP_110404 NM_030777.3 # SIMILARITY Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION GTR10_HUMAN Endomembrane system {ECO 0000269|PubMed 16550171}; Multi-pass membrane protein {ECO 0000269|PubMed 16550171}. Cytoplasm, perinuclear region {ECO 0000269|PubMed 16550171}. # SUPFAM SSF103473 SSF103473; 2 # TCDB 2.A.1.1.59 the major facilitator superfamily (mfs) # TISSUE SPECIFICITY Widely expressed; highest levels in liver and pancreas. {ECO:0000269|PubMed 11592815}. # UCSC uc002xsl human # eggNOG ENOG410XNQK LUCA # eggNOG KOG0254 Eukaryota BLAST swissprot:GTR10_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:GTR10_HUMAN COXPRESdb 81031 http://coxpresdb.jp/data/gene/81031.shtml CleanEx HS_SLC2A10 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC2A10 DOI 10.1002/humu.20623 http://dx.doi.org/10.1002/humu.20623 DOI 10.1006/geno.2000.6457 http://dx.doi.org/10.1006/geno.2000.6457 DOI 10.1006/mgme.2001.3212 http://dx.doi.org/10.1006/mgme.2001.3212 DOI 10.1038/414865a http://dx.doi.org/10.1038/414865a DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1038/ng1764 http://dx.doi.org/10.1038/ng1764 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.2337/diabetes.52.9.2445 http://dx.doi.org/10.2337/diabetes.52.9.2445 EMBL AF248053 http://www.ebi.ac.uk/ena/data/view/AF248053 EMBL AF321240 http://www.ebi.ac.uk/ena/data/view/AF321240 EMBL AK290961 http://www.ebi.ac.uk/ena/data/view/AK290961 EMBL AL031055 http://www.ebi.ac.uk/ena/data/view/AL031055 EMBL AL137188 http://www.ebi.ac.uk/ena/data/view/AL137188 EMBL BC101657 http://www.ebi.ac.uk/ena/data/view/BC101657 EMBL BC113423 http://www.ebi.ac.uk/ena/data/view/BC113423 EMBL CH471077 http://www.ebi.ac.uk/ena/data/view/CH471077 Ensembl ENST00000359271 http://www.ensembl.org/id/ENST00000359271 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0012505 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0012505 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0048471 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048471 GO_function GO:0005351 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005351 GO_function GO:0005355 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005355 GO_function GO:0055056 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055056 GO_process GO:0015758 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015758 GO_process GO:0046323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046323 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GeneCards SLC2A10 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC2A10 GeneID 81031 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=81031 GeneTree ENSGT00850000132274 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00850000132274 HGNC HGNC:13444 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:13444 HOGENOM HOG000202868 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000202868&db=HOGENOM6 HOVERGEN HBG051858 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG051858&db=HOVERGEN HPA HPA041015 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA041015 HPA HPA055673 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA055673 InParanoid O95528 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O95528 InterPro IPR003663 http://www.ebi.ac.uk/interpro/entry/IPR003663 InterPro IPR005828 http://www.ebi.ac.uk/interpro/entry/IPR005828 InterPro IPR005829 http://www.ebi.ac.uk/interpro/entry/IPR005829 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 81031 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=81031 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Disease H00919 http://www.genome.jp/dbget-bin/www_bget?H00919 KEGG_Gene hsa:81031 http://www.genome.jp/dbget-bin/www_bget?hsa:81031 KEGG_Orthology KO:K08147 http://www.genome.jp/dbget-bin/www_bget?KO:K08147 MIM 208050 http://www.ncbi.nlm.nih.gov/omim/208050 MIM 606145 http://www.ncbi.nlm.nih.gov/omim/606145 OMA PIPRTNE http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=PIPRTNE Orphanet 3342 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=3342 OrthoDB EOG091G085H http://cegg.unige.ch/orthodb/results?searchtext=EOG091G085H PRINTS PR00171 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00171 PROSITE PS00216 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00216 PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PSORT swissprot:GTR10_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:GTR10_HUMAN PSORT-B swissprot:GTR10_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:GTR10_HUMAN PSORT2 swissprot:GTR10_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:GTR10_HUMAN Pfam PF00083 http://pfam.xfam.org/family/PF00083 PharmGKB PA37769 http://www.pharmgkb.org/do/serve?objId=PA37769&objCls=Gene Phobius swissprot:GTR10_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:GTR10_HUMAN PhylomeDB O95528 http://phylomedb.org/?seqid=O95528 ProteinModelPortal O95528 http://www.proteinmodelportal.org/query/uniprot/O95528 PubMed 11247674 http://www.ncbi.nlm.nih.gov/pubmed/11247674 PubMed 11592815 http://www.ncbi.nlm.nih.gov/pubmed/11592815 PubMed 11780052 http://www.ncbi.nlm.nih.gov/pubmed/11780052 PubMed 12941788 http://www.ncbi.nlm.nih.gov/pubmed/12941788 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16550171 http://www.ncbi.nlm.nih.gov/pubmed/16550171 PubMed 17935213 http://www.ncbi.nlm.nih.gov/pubmed/17935213 Reactome R-HSA-428790 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-428790 RefSeq NP_110404 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_110404 STRING 9606.ENSP00000352216 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000352216&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.1.1.59 http://www.tcdb.org/search/result.php?tc=2.A.1.1.59 UCSC uc002xsl http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002xsl&org=rat UniGene Hs.305971 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.305971 UniProtKB GTR10_HUMAN http://www.uniprot.org/uniprot/GTR10_HUMAN UniProtKB-AC O95528 http://www.uniprot.org/uniprot/O95528 charge swissprot:GTR10_HUMAN http://rest.g-language.org/emboss/charge/swissprot:GTR10_HUMAN eggNOG ENOG410XNQK http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XNQK eggNOG KOG0254 http://eggnogapi.embl.de/nog_data/html/tree/KOG0254 epestfind swissprot:GTR10_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:GTR10_HUMAN garnier swissprot:GTR10_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:GTR10_HUMAN helixturnhelix swissprot:GTR10_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:GTR10_HUMAN hmoment swissprot:GTR10_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:GTR10_HUMAN iep swissprot:GTR10_HUMAN http://rest.g-language.org/emboss/iep/swissprot:GTR10_HUMAN inforesidue swissprot:GTR10_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:GTR10_HUMAN neXtProt NX_O95528 http://www.nextprot.org/db/entry/NX_O95528 octanol swissprot:GTR10_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:GTR10_HUMAN pepcoil swissprot:GTR10_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:GTR10_HUMAN pepdigest swissprot:GTR10_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:GTR10_HUMAN pepinfo swissprot:GTR10_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:GTR10_HUMAN pepnet swissprot:GTR10_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:GTR10_HUMAN pepstats swissprot:GTR10_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:GTR10_HUMAN pepwheel swissprot:GTR10_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:GTR10_HUMAN pepwindow swissprot:GTR10_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:GTR10_HUMAN sigcleave swissprot:GTR10_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:GTR10_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS SCNNB_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P51168-1; Sequence=Displayed; Name=2; IsoId=P51168-2; Sequence=VSP_007724; # AltName SCNNB_HUMAN Beta-NaCH # AltName SCNNB_HUMAN Epithelial Na(+) channel subunit beta # AltName SCNNB_HUMAN Nonvoltage-gated sodium channel 1 subunit beta # AltName SCNNB_HUMAN SCNEB # BioGrid 112242 18 # CCDS CCDS10609 -. [P51168-1] # DISEASE SCNNB_HUMAN Bronchiectasis with or without elevated sweat chloride 1 (BESC1) [MIM 211400] A debilitating respiratory disease characterized by chronic, abnormal dilatation of the bronchi and other cystic fibrosis-like symptoms in the absence of known causes of bronchiectasis (cystic fibrosis, autoimmune diseases, ciliary dyskinesia, common variable immunodeficiency, foreign body obstruction). Clinical features include sub-normal lung function, sinopulmonary infections, chronic productive cough, excessive sputum production, and elevated sweat chloride in some cases. {ECO 0000269|PubMed 16207733, ECO 0000269|PubMed 18507830, ECO 0000269|PubMed 19017867}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE SCNNB_HUMAN Liddle syndrome (LIDLS) [MIM 177200] An autosomal dominant disorder characterized by hypertension, hypokalemic alkalosis, and suppression of plasma renin activity and aldosterone secretion. {ECO 0000269|PubMed 15483078, ECO 0000269|PubMed 7550319, ECO 0000269|PubMed 8524790, ECO 0000269|PubMed 8601645, ECO 0000269|PubMed 9626162, ECO 0000269|PubMed 9794716}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE SCNNB_HUMAN Pseudohypoaldosteronism 1, autosomal recessive (PHA1B) [MIM 264350] A rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. PHA1B is a severe form involving multiple organ systems, and characterized by an often fulminant presentation in the neonatal period with dehydration, hyponatremia, hyperkalemia, metabolic acidosis, failure to thrive and weight loss. {ECO 0000269|PubMed 8589714}. Note=The disease is caused by mutations affecting the gene represented in this entry. The degree of channel function impairment differentially affects the renin-aldosterone system and urinary Na/K ratios, resulting in distinct genotype-phenotype relationships in PHA1 patients. Loss-of-function mutations are associated with a severe clinical course and age-dependent hyperactivation of the renin-aldosterone system. This feature is not observed in patients with missense mutations that reduce but do not eliminate channel function. Markedly reduced channel activity results in impaired linear growth and delayed puberty (PubMed 18634878). {ECO 0000269|PubMed 18634878}. # DrugBank DB00384 Triamterene # DrugBank DB00594 Amiloride # ENZYME REGULATION Activated by WNK1, WNK2, WNK3 and WNK4. {ECO:0000250|UniProtKB Q9WU38}. # Ensembl ENST00000307331 ENSP00000302874; ENSG00000168447. [P51168-2] # Ensembl ENST00000343070 ENSP00000345751; ENSG00000168447. [P51168-1] # ExpressionAtlas P51168 baseline and differential # FUNCTION SCNNB_HUMAN Sodium permeable non-voltage-sensitive ion channel inhibited by the diuretic amiloride. Mediates the electrodiffusion of the luminal sodium (and water, which follows osmotically) through the apical membrane of epithelial cells. Plays an essential role in electrolyte and blood pressure homeostasis, but also in airway surface liquid homeostasis, which is important for proper clearance of mucus. Controls the reabsorption of sodium in kidney, colon, lung and sweat glands. Also plays a role in taste perception. {ECO 0000269|PubMed 7762608, ECO 0000303|PubMed 7490094}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IDA:UniProtKB. # GO_component GO:0009897 external side of plasma membrane; IEA:Ensembl. # GO_component GO:0016324 apical plasma membrane; IEA:UniProtKB-SubCell. # GO_component GO:0030659 cytoplasmic vesicle membrane; IEA:UniProtKB-SubCell. # GO_component GO:0034706 sodium channel complex; IDA:UniProtKB. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0015280 ligand-gated sodium channel activity; TAS:ProtInc. # GO_function GO:0050699 WW domain binding; IPI:BHF-UCL. # GO_process GO:0006814 sodium ion transport; TAS:ProtInc. # GO_process GO:0007588 excretion; TAS:ProtInc. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0035725 sodium ion transmembrane transport; IDA:UniProtKB. # GO_process GO:0050891 multicellular organismal water homeostasis; IDA:UniProtKB. # GO_process GO:0050896 response to stimulus; IEA:UniProtKB-KW. # GO_process GO:0050909 sensory perception of taste; IEA:UniProtKB-KW. # GO_process GO:0055078 sodium ion homeostasis; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0050877 neurological system process # GOslim_process GO:0055085 transmembrane transport # Genevisible P51168 HS # HGNC HGNC:10600 SCNN1B # INTERACTION SCNNB_HUMAN P46934 NEDD4; NbExp=4; IntAct=EBI-2547187, EBI-726944; # IntAct P51168 4 # InterPro IPR001873 Na+channel_ASC # InterPro IPR004724 ENaC # InterPro IPR020903 Na+channel_ASC_CS # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00242 [Endocrine disease; Urinary system disease] Liddle syndrome # KEGG_Disease H00243 [Endocrine disease; Urinary system disease] Pseudohypoaldosteronism type II (Gordon's syndrome) # KEGG_Disease H00892 [Respiratory disease] Bronchiectasis with or without elevated sweat chloride # KEGG_Disease H01633 [Cardiovascular diseases] Hypertension # KEGG_Pathway ko04742 Taste transduction # KEGG_Pathway ko04960 Aldosterone-regulated sodium reabsorption # MIM 177200 phenotype # MIM 211400 phenotype # MIM 264350 phenotype # MIM 600760 gene # Organism SCNNB_HUMAN Homo sapiens (Human) # Orphanet 171876 Generalized pseudohypoaldosteronism type 1 # Orphanet 526 Liddle syndrome # Orphanet 60033 Idiopathic bronchiectasis # PANTHER PTHR11690 PTHR11690; 2 # PIR I51915 I51915 # PRINTS PR01078 AMINACHANNEL # PROSITE PS01206 ASC # PTM SCNNB_HUMAN N-glycosylated. N-glycosylation is required for interaction with BPIFA1. {ECO 0000269|PubMed 24124190, ECO 0000269|PubMed 7762608}. # PTM SCNNB_HUMAN Phosphorylated on serine and threonine residues. Aldosterone and insulin increase the basal level of phosphorylation. {ECO 0000250|UniProtKB P37090}. # Pfam PF00858 ASC # Proteomes UP000005640 Chromosome 16 # Reactome R-HSA-2672351 Stimuli-sensing channels # RecName SCNNB_HUMAN Amiloride-sensitive sodium channel subunit beta # RefSeq NP_000327 NM_000336.2. [P51168-1] # SIMILARITY Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family. SCNN1B subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION SCNNB_HUMAN Apical cell membrane {ECO 0000305|PubMed 7490094}; Multi-pass membrane protein {ECO 0000250|UniProtKB P37089}. Cytoplasmic vesicle membrane {ECO 0000250|UniProtKB P37090}. Note=Apical membrane of epithelial cells. {ECO 0000305|PubMed 7490094}. # SUBUNIT SCNNB_HUMAN Heterotrimer containing an alpha/SCNN1A, a beta/SCNN1B and a gamma/SCNN1G subunit. An additional delta/SCNN1D subunit exists only in some organisms and can replace the alpha/SCNN1A subunit to form an alternative channel with specific properties (PubMed 7499195, PubMed 16423824). Interacts with NEDD4 (via WW domains) (PubMed 11244092, PubMed 12167593). Interacts with NEDD4L (via WW domains) (PubMed 11244092). Interacts with WWP1 (via WW domains) (PubMed 9169421). Interacts with WWP2 (via WW domains) (PubMed 9169421, PubMed 12167593). Interacts with the full length immature form of PCSK9 (pro-PCSK9) (PubMed 22493497). Interacts (N-glycosylated) with BPIFA1; the interaction is direct and inhibits the proteolytic processing of SCNN1A and SCNN1G and the activation of ENaC (PubMed 24124190, PubMed 24043776). {ECO 0000269|PubMed 11244092, ECO 0000269|PubMed 12167593, ECO 0000269|PubMed 16423824, ECO 0000269|PubMed 22493497, ECO 0000269|PubMed 24043776, ECO 0000269|PubMed 24124190, ECO 0000269|PubMed 7499195, ECO 0000269|PubMed 9169421}. # TCDB 1.A.6.1 the epithelial na(+) channel (enac) family # TIGRFAMs TIGR00859 ENaC # TISSUE SPECIFICITY SCNNB_HUMAN Detected in placenta, lung and kidney (PubMed 7762608). Expressed in kidney (at protein level) (PubMed 22207244). {ECO 0000269|PubMed 22207244, ECO 0000269|PubMed 7762608}. # UCSC uc002dln human. [P51168-1] # eggNOG ENOG410ZNFK LUCA # eggNOG KOG4294 Eukaryota BLAST swissprot:SCNNB_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SCNNB_HUMAN BioCyc ZFISH:ENSG00000168447-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000168447-MONOMER COXPRESdb 6338 http://coxpresdb.jp/data/gene/6338.shtml CleanEx HS_SCNN1B http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SCNN1B DOI 10.1006/bbrc.1998.9625 http://dx.doi.org/10.1006/bbrc.1998.9625 DOI 10.1006/geno.1995.1188 http://dx.doi.org/10.1006/geno.1995.1188 DOI 10.1006/geno.1999.5927 http://dx.doi.org/10.1006/geno.1999.5927 DOI 10.1007/s00418-011-0904-1 http://dx.doi.org/10.1007/s00418-011-0904-1 DOI 10.1016/0092-8674(94)90250-X http://dx.doi.org/10.1016/0092-8674(94)90250-X DOI 10.1016/j.gene.2015.12.061 http://dx.doi.org/10.1016/j.gene.2015.12.061 DOI 10.1016/j.jsbmb.2008.06.013 http://dx.doi.org/10.1016/j.jsbmb.2008.06.013 DOI 10.1016/j.jsbmb.2010.01.002 http://dx.doi.org/10.1016/j.jsbmb.2010.01.002 DOI 10.1038/ng0396-248 http://dx.doi.org/10.1038/ng0396-248 DOI 10.1038/ng0995-76 http://dx.doi.org/10.1038/ng0995-76 DOI 10.1073/pnas.1311999110 http://dx.doi.org/10.1073/pnas.1311999110 DOI 10.1073/pnas.92.25.11495 http://dx.doi.org/10.1073/pnas.92.25.11495 DOI 10.1074/jbc.270.46.27411 http://dx.doi.org/10.1074/jbc.270.46.27411 DOI 10.1074/jbc.272.23.14611 http://dx.doi.org/10.1074/jbc.272.23.14611 DOI 10.1074/jbc.C000906200 http://dx.doi.org/10.1074/jbc.C000906200 DOI 10.1074/jbc.M112.363382 http://dx.doi.org/10.1074/jbc.M112.363382 DOI 10.1074/jbc.M512293200 http://dx.doi.org/10.1074/jbc.M512293200 DOI 10.1093/hmg/ddi374 http://dx.doi.org/10.1093/hmg/ddi374 DOI 10.1097/00004872-199816080-00008 http://dx.doi.org/10.1097/00004872-199816080-00008 DOI 10.1097/00004872-200305000-00016 http://dx.doi.org/10.1097/00004872-200305000-00016 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1365-2265.2005.02255.x http://dx.doi.org/10.1111/j.1365-2265.2005.02255.x DOI 10.1126/science.1133427 http://dx.doi.org/10.1126/science.1133427 DOI 10.1152/ajplung.00103.2013 http://dx.doi.org/10.1152/ajplung.00103.2013 DOI 10.1152/ajprenal.00080.2002 http://dx.doi.org/10.1152/ajprenal.00080.2002 DOI 10.1161/01.HYP.32.1.129 http://dx.doi.org/10.1161/01.HYP.32.1.129 DOI 10.1172/JCI118606 http://dx.doi.org/10.1172/JCI118606 DOI 10.1186/1465-9921-9-46 http://dx.doi.org/10.1186/1465-9921-9-46 DOI 10.1210/jc.2004-1027 http://dx.doi.org/10.1210/jc.2004-1027 DOI 10.1210/jc.84.7.2434 http://dx.doi.org/10.1210/jc.84.7.2434 DOI 10.1210/jcem-73-5-936 http://dx.doi.org/10.1210/jcem-73-5-936 DOI 10.1210/jcem.83.6.5030 http://dx.doi.org/10.1210/jcem.83.6.5030 DOI 10.1210/jcem.87.7.8674 http://dx.doi.org/10.1210/jcem.87.7.8674 DOI 10.1378/chest.08-2246 http://dx.doi.org/10.1378/chest.08-2246 DrugBank DB00384 http://www.drugbank.ca/drugs/DB00384 DrugBank DB00594 http://www.drugbank.ca/drugs/DB00594 EMBL AC130452 http://www.ebi.ac.uk/ena/data/view/AC130452 EMBL AF260226 http://www.ebi.ac.uk/ena/data/view/AF260226 EMBL AJ005383 http://www.ebi.ac.uk/ena/data/view/AJ005383 EMBL AJ005384 http://www.ebi.ac.uk/ena/data/view/AJ005384 EMBL AJ005385 http://www.ebi.ac.uk/ena/data/view/AJ005385 EMBL AJ005386 http://www.ebi.ac.uk/ena/data/view/AJ005386 EMBL AJ005387 http://www.ebi.ac.uk/ena/data/view/AJ005387 EMBL AJ005388 http://www.ebi.ac.uk/ena/data/view/AJ005388 EMBL AJ005389 http://www.ebi.ac.uk/ena/data/view/AJ005389 EMBL AJ005390 http://www.ebi.ac.uk/ena/data/view/AJ005390 EMBL AJ005391 http://www.ebi.ac.uk/ena/data/view/AJ005391 EMBL AJ005392 http://www.ebi.ac.uk/ena/data/view/AJ005392 EMBL AJ005393 http://www.ebi.ac.uk/ena/data/view/AJ005393 EMBL BC036352 http://www.ebi.ac.uk/ena/data/view/BC036352 EMBL FJ515831 http://www.ebi.ac.uk/ena/data/view/FJ515831 EMBL L36593 http://www.ebi.ac.uk/ena/data/view/L36593 EMBL U16023 http://www.ebi.ac.uk/ena/data/view/U16023 EMBL X87159 http://www.ebi.ac.uk/ena/data/view/X87159 Ensembl ENST00000307331 http://www.ensembl.org/id/ENST00000307331 Ensembl ENST00000343070 http://www.ensembl.org/id/ENST00000343070 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0009897 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009897 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:0030659 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030659 GO_component GO:0034706 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034706 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0015280 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015280 GO_function GO:0050699 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050699 GO_process GO:0006814 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006814 GO_process GO:0007588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007588 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0035725 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035725 GO_process GO:0050891 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050891 GO_process GO:0050896 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050896 GO_process GO:0050909 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050909 GO_process GO:0055078 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055078 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SCNN1B http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SCNN1B GeneID 6338 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6338 GeneTree ENSGT00760000119120 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119120 H-InvDB HIX0026943 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0026943 HGNC HGNC:10600 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10600 HOGENOM HOG000236286 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000236286&db=HOGENOM6 HOVERGEN HBG058435 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG058435&db=HOVERGEN HPA HPA015612 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA015612 InParanoid P51168 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P51168 IntAct P51168 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P51168* InterPro IPR001873 http://www.ebi.ac.uk/interpro/entry/IPR001873 InterPro IPR004724 http://www.ebi.ac.uk/interpro/entry/IPR004724 InterPro IPR020903 http://www.ebi.ac.uk/interpro/entry/IPR020903 Jabion 6338 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6338 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00242 http://www.genome.jp/dbget-bin/www_bget?H00242 KEGG_Disease H00243 http://www.genome.jp/dbget-bin/www_bget?H00243 KEGG_Disease H00892 http://www.genome.jp/dbget-bin/www_bget?H00892 KEGG_Disease H01633 http://www.genome.jp/dbget-bin/www_bget?H01633 KEGG_Gene hsa:6338 http://www.genome.jp/dbget-bin/www_bget?hsa:6338 KEGG_Orthology KO:K04825 http://www.genome.jp/dbget-bin/www_bget?KO:K04825 KEGG_Pathway ko04742 http://www.genome.jp/kegg-bin/show_pathway?ko04742 KEGG_Pathway ko04960 http://www.genome.jp/kegg-bin/show_pathway?ko04960 MIM 177200 http://www.ncbi.nlm.nih.gov/omim/177200 MIM 211400 http://www.ncbi.nlm.nih.gov/omim/211400 MIM 264350 http://www.ncbi.nlm.nih.gov/omim/264350 MIM 600760 http://www.ncbi.nlm.nih.gov/omim/600760 MINT MINT-198733 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-198733 OMA CNDTQYK http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=CNDTQYK Orphanet 171876 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=171876 Orphanet 526 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=526 Orphanet 60033 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=60033 OrthoDB EOG091G0KW6 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0KW6 PANTHER PTHR11690 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11690 PRINTS PR01078 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01078 PROSITE PS01206 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS01206 PSORT swissprot:SCNNB_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SCNNB_HUMAN PSORT-B swissprot:SCNNB_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SCNNB_HUMAN PSORT2 swissprot:SCNNB_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SCNNB_HUMAN Pfam PF00858 http://pfam.xfam.org/family/PF00858 PharmGKB PA306 http://www.pharmgkb.org/do/serve?objId=PA306&objCls=Gene Phobius swissprot:SCNNB_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SCNNB_HUMAN PhylomeDB P51168 http://phylomedb.org/?seqid=P51168 ProteinModelPortal P51168 http://www.proteinmodelportal.org/query/uniprot/P51168 PubMed 10404817 http://www.ncbi.nlm.nih.gov/pubmed/10404817 PubMed 10493829 http://www.ncbi.nlm.nih.gov/pubmed/10493829 PubMed 11244092 http://www.ncbi.nlm.nih.gov/pubmed/11244092 PubMed 12107247 http://www.ncbi.nlm.nih.gov/pubmed/12107247 PubMed 12167593 http://www.ncbi.nlm.nih.gov/pubmed/12167593 PubMed 12714866 http://www.ncbi.nlm.nih.gov/pubmed/12714866 PubMed 15483078 http://www.ncbi.nlm.nih.gov/pubmed/15483078 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15853823 http://www.ncbi.nlm.nih.gov/pubmed/15853823 PubMed 16207733 http://www.ncbi.nlm.nih.gov/pubmed/16207733 PubMed 16423824 http://www.ncbi.nlm.nih.gov/pubmed/16423824 PubMed 16959974 http://www.ncbi.nlm.nih.gov/pubmed/16959974 PubMed 18507830 http://www.ncbi.nlm.nih.gov/pubmed/18507830 PubMed 18634878 http://www.ncbi.nlm.nih.gov/pubmed/18634878 PubMed 19017867 http://www.ncbi.nlm.nih.gov/pubmed/19017867 PubMed 1939532 http://www.ncbi.nlm.nih.gov/pubmed/1939532 PubMed 20064610 http://www.ncbi.nlm.nih.gov/pubmed/20064610 PubMed 22207244 http://www.ncbi.nlm.nih.gov/pubmed/22207244 PubMed 22493497 http://www.ncbi.nlm.nih.gov/pubmed/22493497 PubMed 23547933 http://www.ncbi.nlm.nih.gov/pubmed/23547933 PubMed 24043776 http://www.ncbi.nlm.nih.gov/pubmed/24043776 PubMed 24124190 http://www.ncbi.nlm.nih.gov/pubmed/24124190 PubMed 26772908 http://www.ncbi.nlm.nih.gov/pubmed/26772908 PubMed 7490094 http://www.ncbi.nlm.nih.gov/pubmed/7490094 PubMed 7499195 http://www.ncbi.nlm.nih.gov/pubmed/7499195 PubMed 7550319 http://www.ncbi.nlm.nih.gov/pubmed/7550319 PubMed 7762608 http://www.ncbi.nlm.nih.gov/pubmed/7762608 PubMed 7954808 http://www.ncbi.nlm.nih.gov/pubmed/7954808 PubMed 8524790 http://www.ncbi.nlm.nih.gov/pubmed/8524790 PubMed 8589714 http://www.ncbi.nlm.nih.gov/pubmed/8589714 PubMed 8601645 http://www.ncbi.nlm.nih.gov/pubmed/8601645 PubMed 9169421 http://www.ncbi.nlm.nih.gov/pubmed/9169421 PubMed 9626162 http://www.ncbi.nlm.nih.gov/pubmed/9626162 PubMed 9674649 http://www.ncbi.nlm.nih.gov/pubmed/9674649 PubMed 9794716 http://www.ncbi.nlm.nih.gov/pubmed/9794716 PubMed 9813171 http://www.ncbi.nlm.nih.gov/pubmed/9813171 Reactome R-HSA-2672351 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2672351 RefSeq NP_000327 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000327 STRING 9606.ENSP00000345751 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000345751&targetmode=cogs TCDB 1.A.6.1 http://www.tcdb.org/search/result.php?tc=1.A.6.1 TIGRFAMs TIGR00859 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00859 UCSC uc002dln http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002dln&org=rat UniGene Hs.414614 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.414614 UniProtKB SCNNB_HUMAN http://www.uniprot.org/uniprot/SCNNB_HUMAN UniProtKB-AC P51168 http://www.uniprot.org/uniprot/P51168 charge swissprot:SCNNB_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SCNNB_HUMAN eggNOG ENOG410ZNFK http://eggnogapi.embl.de/nog_data/html/tree/ENOG410ZNFK eggNOG KOG4294 http://eggnogapi.embl.de/nog_data/html/tree/KOG4294 epestfind swissprot:SCNNB_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SCNNB_HUMAN garnier swissprot:SCNNB_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SCNNB_HUMAN helixturnhelix swissprot:SCNNB_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SCNNB_HUMAN hmoment swissprot:SCNNB_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SCNNB_HUMAN iep swissprot:SCNNB_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SCNNB_HUMAN inforesidue swissprot:SCNNB_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SCNNB_HUMAN neXtProt NX_P51168 http://www.nextprot.org/db/entry/NX_P51168 octanol swissprot:SCNNB_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SCNNB_HUMAN pepcoil swissprot:SCNNB_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SCNNB_HUMAN pepdigest swissprot:SCNNB_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SCNNB_HUMAN pepinfo swissprot:SCNNB_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SCNNB_HUMAN pepnet swissprot:SCNNB_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SCNNB_HUMAN pepstats swissprot:SCNNB_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SCNNB_HUMAN pepwheel swissprot:SCNNB_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SCNNB_HUMAN pepwindow swissprot:SCNNB_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SCNNB_HUMAN sigcleave swissprot:SCNNB_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SCNNB_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS IPO8_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O15397-1; Sequence=Displayed; Name=2; IsoId=O15397-2; Sequence=VSP_042574; Note=No experimental confirmation available.; # AltName IPO8_HUMAN Ran-binding protein 8 # BioGrid 115781 55 # CCDS CCDS53773 -. [O15397-2] # CCDS CCDS8719 -. [O15397-1] # Ensembl ENST00000256079 ENSP00000256079; ENSG00000133704. [O15397-1] # Ensembl ENST00000544829 ENSP00000444520; ENSG00000133704. [O15397-2] # ExpressionAtlas O15397 baseline and differential # FUNCTION IPO8_HUMAN Seems to function in nuclear protein import, either by acting as autonomous nuclear transport receptor or as an adapter- like protein in association with the importin-beta subunit KPNB1. Acting autonomously, is thought to serve itself as receptor for nuclear localization signals (NLS) and to promote translocation of import substrates through the nuclear pore complex (NPC) by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to importin, the importin/substrate complex dissociates and importin is re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. In vitro mediates the nuclear import of SRP19. {ECO 0000269|PubMed 11682607, ECO 0000269|PubMed 9214382}. # GO_component GO:0005635 nuclear envelope; IBA:GO_Central. # GO_component GO:0005654 nucleoplasm; TAS:Reactome. # GO_component GO:0005829 cytosol; IBA:GO_Central. # GO_function GO:0008536 Ran GTPase binding; TAS:ProtInc. # GO_function GO:0008565 protein transporter activity; IBA:GO_Central. # GO_process GO:0006606 protein import into nucleus; IBA:GO_Central. # GO_process GO:0007165 signal transduction; TAS:ProtInc. # GO_process GO:0031047 gene silencing by RNA; TAS:Reactome. # GOslim_component GO:0005635 nuclear envelope # GOslim_component GO:0005654 nucleoplasm # GOslim_component GO:0005829 cytosol # GOslim_function GO:0008565 protein transporter activity # GOslim_function GO:0019899 enzyme binding # GOslim_process GO:0006913 nucleocytoplasmic transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # Gene3D 1.25.10.10 -; 2. # Genevisible O15397 HS # HGNC HGNC:9853 IPO8 # INTERACTION IPO8_HUMAN Q9UL18 AGO1; NbExp=2; IntAct=EBI-358808, EBI-527363; Q9UKV8 AGO2; NbExp=4; IntAct=EBI-358808, EBI-528269; Q9H9G7 AGO3; NbExp=5; IntAct=EBI-358808, EBI-2267883; Q9HCK5 AGO4; NbExp=3; IntAct=EBI-358808, EBI-2269696; # IntAct O15397 39 # InterPro IPR001494 Importin-beta_N # InterPro IPR011989 ARM-like # InterPro IPR013713 Cse1 # InterPro IPR016024 ARM-type_fold # MIM 605600 gene # Organism IPO8_HUMAN Homo sapiens (Human) # PROSITE PS50166 IMPORTIN_B_NT # Pfam PF03810 IBN_N # Pfam PF08506 Cse1 # Proteomes UP000005640 Chromosome 12 # Reactome R-HSA-5578749 Transcriptional regulation by small RNAs # RecName IPO8_HUMAN Importin-8 # RefSeq NP_001177924 NM_001190995.1. [O15397-2] # RefSeq NP_006381 NM_006390.3. [O15397-1] # SIMILARITY Belongs to the importin beta family. {ECO 0000305}. # SIMILARITY Contains 1 importin N-terminal domain. {ECO:0000255|PROSITE-ProRule PRU00115}. # SMART SM00913 IBN_N # SUBCELLULAR LOCATION IPO8_HUMAN Cytoplasm {ECO 0000250}. Nucleus {ECO 0000250}. # SUBUNIT IPO8_HUMAN Forms a heterodimer with KPNB1. Interacts with SRP19. Binds directly to nuclear pore complexes. {ECO 0000269|PubMed 11682607, ECO 0000269|PubMed 9214382}. # SUPFAM SSF48371 SSF48371 # TCDB 1.I.1.1 the nuclear pore complex (npc) family # UCSC uc001rjd human. [O15397-1] # eggNOG COG5656 LUCA # eggNOG KOG1991 Eukaryota BLAST swissprot:IPO8_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:IPO8_HUMAN BioCyc ZFISH:ENSG00000133704-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000133704-MONOMER COXPRESdb 10526 http://coxpresdb.jp/data/gene/10526.shtml CleanEx HS_IPO8 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_IPO8 DIP DIP-44186N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-44186N DOI 10.1016/j.molcel.2008.07.007 http://dx.doi.org/10.1016/j.molcel.2008.07.007 DOI 10.1038/nature04569 http://dx.doi.org/10.1038/nature04569 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1083/jcb.138.1.65 http://dx.doi.org/10.1083/jcb.138.1.65 DOI 10.1126/scisignal.2000007 http://dx.doi.org/10.1126/scisignal.2000007 DOI 10.1126/scisignal.2001570 http://dx.doi.org/10.1126/scisignal.2001570 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AC012673 http://www.ebi.ac.uk/ena/data/view/AC012673 EMBL AC023426 http://www.ebi.ac.uk/ena/data/view/AC023426 EMBL AK302260 http://www.ebi.ac.uk/ena/data/view/AK302260 EMBL U77494 http://www.ebi.ac.uk/ena/data/view/U77494 Ensembl ENST00000256079 http://www.ensembl.org/id/ENST00000256079 Ensembl ENST00000544829 http://www.ensembl.org/id/ENST00000544829 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005635 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005635 GO_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_function GO:0008536 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008536 GO_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GO_process GO:0006606 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006606 GO_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GO_process GO:0031047 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031047 GOslim_component GO:0005635 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005635 GOslim_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_function GO:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GOslim_process GO:0006913 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006913 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 Gene3D 1.25.10.10 http://www.cathdb.info/version/latest/superfamily/1.25.10.10 GeneCards IPO8 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=IPO8 GeneID 10526 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=10526 GeneTree ENSGT00550000074736 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074736 HGNC HGNC:9853 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:9853 HOGENOM HOG000006586 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000006586&db=HOGENOM6 HOVERGEN HBG006824 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG006824&db=HOVERGEN HPA HPA018439 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA018439 HPA HPA023765 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA023765 InParanoid O15397 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O15397 IntAct O15397 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O15397* InterPro IPR001494 http://www.ebi.ac.uk/interpro/entry/IPR001494 InterPro IPR011989 http://www.ebi.ac.uk/interpro/entry/IPR011989 InterPro IPR013713 http://www.ebi.ac.uk/interpro/entry/IPR013713 InterPro IPR016024 http://www.ebi.ac.uk/interpro/entry/IPR016024 Jabion 10526 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=10526 KEGG_Gene hsa:10526 http://www.genome.jp/dbget-bin/www_bget?hsa:10526 MIM 605600 http://www.ncbi.nlm.nih.gov/omim/605600 MINT MINT-1150774 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1150774 OMA QTQAKEY http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=QTQAKEY OrthoDB EOG091G01IF http://cegg.unige.ch/orthodb/results?searchtext=EOG091G01IF PROSITE PS50166 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50166 PSORT swissprot:IPO8_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:IPO8_HUMAN PSORT-B swissprot:IPO8_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:IPO8_HUMAN PSORT2 swissprot:IPO8_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:IPO8_HUMAN Pfam PF03810 http://pfam.xfam.org/family/PF03810 Pfam PF08506 http://pfam.xfam.org/family/PF08506 PharmGKB PA34214 http://www.pharmgkb.org/do/serve?objId=PA34214&objCls=Gene Phobius swissprot:IPO8_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:IPO8_HUMAN PhylomeDB O15397 http://phylomedb.org/?seqid=O15397 ProteinModelPortal O15397 http://www.proteinmodelportal.org/query/uniprot/O15397 PubMed 11682607 http://www.ncbi.nlm.nih.gov/pubmed/11682607 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 16541075 http://www.ncbi.nlm.nih.gov/pubmed/16541075 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 18691976 http://www.ncbi.nlm.nih.gov/pubmed/18691976 PubMed 19690332 http://www.ncbi.nlm.nih.gov/pubmed/19690332 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 21406692 http://www.ncbi.nlm.nih.gov/pubmed/21406692 PubMed 9214382 http://www.ncbi.nlm.nih.gov/pubmed/9214382 Reactome R-HSA-5578749 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5578749 RefSeq NP_001177924 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001177924 RefSeq NP_006381 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_006381 SMART SM00913 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00913 STRING 9606.ENSP00000256079 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000256079&targetmode=cogs SUPFAM SSF48371 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48371 TCDB 1.I.1.1 http://www.tcdb.org/search/result.php?tc=1.I.1.1 UCSC uc001rjd http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001rjd&org=rat UniGene Hs.505136 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.505136 UniProtKB IPO8_HUMAN http://www.uniprot.org/uniprot/IPO8_HUMAN UniProtKB-AC O15397 http://www.uniprot.org/uniprot/O15397 charge swissprot:IPO8_HUMAN http://rest.g-language.org/emboss/charge/swissprot:IPO8_HUMAN eggNOG COG5656 http://eggnogapi.embl.de/nog_data/html/tree/COG5656 eggNOG KOG1991 http://eggnogapi.embl.de/nog_data/html/tree/KOG1991 epestfind swissprot:IPO8_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:IPO8_HUMAN garnier swissprot:IPO8_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:IPO8_HUMAN helixturnhelix swissprot:IPO8_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:IPO8_HUMAN hmoment swissprot:IPO8_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:IPO8_HUMAN iep swissprot:IPO8_HUMAN http://rest.g-language.org/emboss/iep/swissprot:IPO8_HUMAN inforesidue swissprot:IPO8_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:IPO8_HUMAN neXtProt NX_O15397 http://www.nextprot.org/db/entry/NX_O15397 octanol swissprot:IPO8_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:IPO8_HUMAN pepcoil swissprot:IPO8_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:IPO8_HUMAN pepdigest swissprot:IPO8_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:IPO8_HUMAN pepinfo swissprot:IPO8_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:IPO8_HUMAN pepnet swissprot:IPO8_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:IPO8_HUMAN pepstats swissprot:IPO8_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:IPO8_HUMAN pepwheel swissprot:IPO8_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:IPO8_HUMAN pepwindow swissprot:IPO8_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:IPO8_HUMAN sigcleave swissprot:IPO8_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:IPO8_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS CACB2_HUMAN Event=Alternative splicing; Named isoforms=10; Name=2d; Synonyms=CACNB2d; IsoId=Q08289-1; Sequence=Displayed; Name=2a; Synonyms=CACNB2a; IsoId=Q08289-2; Sequence=VSP_000627; Name=2b; Synonyms=CACNB2b, 2aN4; IsoId=Q08289-3; Sequence=VSP_000628; Name=2c; Synonyms=CACNB2c, 2aN2; IsoId=Q08289-4; Sequence=VSP_000626; Name=2e; Synonyms=CACNB2e; IsoId=Q08289-5; Sequence=VSP_000629; Name=2f; IsoId=Q08289-6; Sequence=VSP_000627, VSP_000630; Name=2g; IsoId=Q08289-7; Sequence=VSP_000630; Name=2h; Synonyms=2cN1; IsoId=Q08289-8; Sequence=VSP_000631; Name=2cN2; IsoId=Q08289-9; Sequence=VSP_000626, VSP_000631; Name=2cN4; IsoId=Q08289-10; Sequence=VSP_000628, VSP_000631; # AltName CACB2_HUMAN Calcium channel voltage-dependent subunit beta 2 # AltName CACB2_HUMAN Lambert-Eaton myasthenic syndrome antigen B # BioGrid 107237 2 # CCDS CCDS41493 -. [Q08289-9] # CCDS CCDS41494 -. [Q08289-3] # CCDS CCDS7125 -. [Q08289-1] # CCDS CCDS7126 -. [Q08289-8] # CCDS CCDS7127 -. [Q08289-4] # CCDS CCDS7128 -. [Q08289-2] # CCDS CCDS7129 -. [Q08289-5] # CCDS CCDS81442 -. [Q08289-6] # ChiTaRS CACNB2 human # DISEASE CACB2_HUMAN Brugada syndrome 4 (BRGDA4) [MIM 611876] A heart disease characterized by the association of Brugada syndrome with shortened QT intervals. Brugada syndrome is a tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset. {ECO 0000269|PubMed 17224476}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DrugBank DB00270 Isradipine # DrugBank DB00381 Amlodipine # DrugBank DB00393 Nimodipine # DrugBank DB00401 Nisoldipine # DrugBank DB00421 Spironolactone # DrugBank DB00622 Nicardipine # DrugBank DB00653 Magnesium Sulfate # DrugBank DB00661 Verapamil # DrugBank DB01023 Felodipine # DrugBank DB01054 Nitrendipine # DrugBank DB01115 Nifedipine # DrugBank DB04855 Dronedarone # DrugBank DB06712 Nilvadipine # Ensembl ENST00000282343 ENSP00000282343; ENSG00000165995. [Q08289-4] # Ensembl ENST00000324631 ENSP00000320025; ENSG00000165995. [Q08289-1] # Ensembl ENST00000352115 ENSP00000344474; ENSG00000165995. [Q08289-8] # Ensembl ENST00000377315 ENSP00000366532; ENSG00000165995. [Q08289-5] # Ensembl ENST00000377319 ENSP00000366536; ENSG00000165995. [Q08289-6] # Ensembl ENST00000377329 ENSP00000366546; ENSG00000165995. [Q08289-3] # Ensembl ENST00000377331 ENSP00000366548; ENSG00000165995. [Q08289-9] # Ensembl ENST00000396576 ENSP00000379821; ENSG00000165995. [Q08289-2] # ExpressionAtlas Q08289 baseline and differential # FUNCTION CACB2_HUMAN The beta subunit of voltage-dependent calcium channels contributes to the function of the calcium channel by increasing peak calcium current, shifting the voltage dependencies of activation and inactivation, modulating G protein inhibition and controlling the alpha-1 subunit membrane targeting. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; NAS:UniProtKB. # GO_component GO:0005891 voltage-gated calcium channel complex; IDA:BHF-UCL. # GO_component GO:1990454 L-type voltage-gated calcium channel complex; IDA:BHF-UCL. # GO_function GO:0005245 voltage-gated calcium channel activity; IDA:BHF-UCL. # GO_function GO:0005262 calcium channel activity; NAS:UniProtKB. # GO_function GO:0051015 actin filament binding; ISS:BHF-UCL. # GO_process GO:0007268 chemical synaptic transmission; IBA:GO_Central. # GO_process GO:0007528 neuromuscular junction development; TAS:ProtInc. # GO_process GO:0007601 visual perception; IEA:Ensembl. # GO_process GO:0051928 positive regulation of calcium ion transport; IDA:BHF-UCL. # GO_process GO:0061337 cardiac conduction; TAS:Reactome. # GO_process GO:0070509 calcium ion import; IDA:BHF-UCL. # GO_process GO:0086045 membrane depolarization during AV node cell action potential; IMP:BHF-UCL. # GO_process GO:0086091 regulation of heart rate by cardiac conduction; IMP:BHF-UCL. # GO_process GO:0090002 establishment of protein localization to plasma membrane; ISS:BHF-UCL. # GO_process GO:0098912 membrane depolarization during atrial cardiac muscle cell action potential; IMP:BHF-UCL. # GO_process GO:1901385 regulation of voltage-gated calcium channel activity; IBA:GO_Central. # GO_process GO:1901843 positive regulation of high voltage-gated calcium channel activity; ISS:BHF-UCL. # GO_process GO:1904879 positive regulation of calcium ion transmembrane transport via high voltage-gated calcium channel; ISS:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0008092 cytoskeletal protein binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # GOslim_process GO:0050877 neurological system process # Gene3D 3.40.50.300 -; 1. # Genevisible Q08289 HS # HGNC HGNC:1402 CACNB2 # IntAct Q08289 3 # InterPro IPR000584 VDCC_L_bsu # InterPro IPR001452 SH3_domain # InterPro IPR005444 VDCC_L_b2su # InterPro IPR008145 GK/Ca_channel_bsu # InterPro IPR027417 P-loop_NTPase # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00728 [Cardiovascular disease] Brugada syndrome (BRS) # KEGG_Pathway ko04010 MAPK signaling pathway # KEGG_Pathway ko04260 Cardiac muscle contraction # KEGG_Pathway ko05410 Hypertrophic cardiomyopathy (HCM) # KEGG_Pathway ko05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC) # KEGG_Pathway ko05414 Dilated cardiomyopathy # MIM 600003 gene # MIM 611876 phenotype # Organism CACB2_HUMAN Homo sapiens (Human) # Orphanet 130 Brugada syndrome # PANTHER PTHR11824 PTHR11824 # PIR A48895 A48895 # PRINTS PR01626 LCACHANNELB # PRINTS PR01628 LCACHANNELB2 # PROSITE PS50002 SH3 # PTM CACB2_HUMAN Regulated through phosphorylation at Thr-554 by CaMK2D. {ECO 0000250}. # Pfam PF00625 Guanylate_kin # Pfam PF12052 VGCC_beta4Aa_N # Proteomes UP000005640 Chromosome 10 # Reactome R-HSA-112308 Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels # Reactome R-HSA-400042 Adrenaline,noradrenaline inhibits insulin secretion # Reactome R-HSA-419037 NCAM1 interactions # Reactome R-HSA-422356 Regulation of insulin secretion # Reactome R-HSA-5576892 Phase 0 - rapid depolarisation # Reactome R-HSA-5576893 Phase 2 - plateau phase # Reactome R-HSA-5576894 Phase 1 - inactivation of fast Na+ channels # RecName CACB2_HUMAN Voltage-dependent L-type calcium channel subunit beta-2 # RefSeq NP_000715 NM_000724.3. [Q08289-2] # RefSeq NP_001316989 NM_001330060.1 # RefSeq NP_963864 NM_201570.2. [Q08289-5] # RefSeq NP_963865 NM_201571.3. [Q08289-4] # RefSeq NP_963866 NM_201572.3. [Q08289-9] # RefSeq NP_963884 NM_201590.2. [Q08289-3] # RefSeq NP_963887 NM_201593.2. [Q08289-7] # RefSeq NP_963890 NM_201596.2. [Q08289-1] # RefSeq NP_963891 NM_201597.2. [Q08289-8] # RefSeq XP_011517961 XM_011519659.2. [Q08289-10] # SEQUENCE CAUTION Sequence=AAB51370.1; Type=Frameshift; Positions=515; Evidence={ECO 0000305}; # SIMILARITY Belongs to the calcium channel beta subunit family. {ECO 0000305}. # SIMILARITY Contains 1 SH3 domain. {ECO:0000255|PROSITE- ProRule PRU00192}. # SMART SM00072 GuKc # SMART SM00326 SH3 # SUBCELLULAR LOCATION CACB2_HUMAN Cell membrane, sarcolemma {ECO 0000250}; Peripheral membrane protein {ECO 0000250}; Cytoplasmic side {ECO 0000250}. # SUBUNIT CACB2_HUMAN The L-type calcium channel is composed of four subunits alpha-1, alpha-2, beta and gamma. Interacts with CAMK2D (By similarity). Interacts with RRAD. Interaction with RRAD regulates the trafficking of CACNA1C to the cell membrane. Interacts with TMIGD2. Interacts with CBARP. {ECO 0000250, ECO 0000269|PubMed 17525370, ECO 0000269|PubMed 22419821}. # SUPFAM SSF50044 SSF50044; 2 # SUPFAM SSF52540 SSF52540 # TCDB 8.A.22.1 the ca(2+) channel auxiliary subunit types 1-4 (cca-) family # TISSUE SPECIFICITY CACB2_HUMAN Expressed in all tissues. # UCSC uc001ipr human. [Q08289-1] # eggNOG ENOG410XRDI LUCA # eggNOG KOG3812 Eukaryota BLAST swissprot:CACB2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CACB2_HUMAN BioCyc ZFISH:ENSG00000165995-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000165995-MONOMER COXPRESdb 783 http://coxpresdb.jp/data/gene/783.shtml DOI 10.1002/ana.410330126 http://dx.doi.org/10.1002/ana.410330126 DOI 10.1007/s004390050482 http://dx.doi.org/10.1007/s004390050482 DOI 10.1038/nature02462 http://dx.doi.org/10.1038/nature02462 DOI 10.1091/mbc.E11-11-0934 http://dx.doi.org/10.1091/mbc.E11-11-0934 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1113/jphysiol.2002.018515 http://dx.doi.org/10.1113/jphysiol.2002.018515 DOI 10.1126/science.1133427 http://dx.doi.org/10.1126/science.1133427 DOI 10.1152/physiolgenomics.00207.2003 http://dx.doi.org/10.1152/physiolgenomics.00207.2003 DOI 10.1161/CIRCRESAHA.106.146399 http://dx.doi.org/10.1161/CIRCRESAHA.106.146399 DOI 10.1161/CIRCULATIONAHA.106.668392 http://dx.doi.org/10.1161/CIRCULATIONAHA.106.668392 DrugBank DB00270 http://www.drugbank.ca/drugs/DB00270 DrugBank DB00381 http://www.drugbank.ca/drugs/DB00381 DrugBank DB00393 http://www.drugbank.ca/drugs/DB00393 DrugBank DB00401 http://www.drugbank.ca/drugs/DB00401 DrugBank DB00421 http://www.drugbank.ca/drugs/DB00421 DrugBank DB00622 http://www.drugbank.ca/drugs/DB00622 DrugBank DB00653 http://www.drugbank.ca/drugs/DB00653 DrugBank DB00661 http://www.drugbank.ca/drugs/DB00661 DrugBank DB01023 http://www.drugbank.ca/drugs/DB01023 DrugBank DB01054 http://www.drugbank.ca/drugs/DB01054 DrugBank DB01115 http://www.drugbank.ca/drugs/DB01115 DrugBank DB04855 http://www.drugbank.ca/drugs/DB04855 DrugBank DB06712 http://www.drugbank.ca/drugs/DB06712 EMBL AF137376 http://www.ebi.ac.uk/ena/data/view/AF137376 EMBL AF137377 http://www.ebi.ac.uk/ena/data/view/AF137377 EMBL AF285239 http://www.ebi.ac.uk/ena/data/view/AF285239 EMBL AF423189 http://www.ebi.ac.uk/ena/data/view/AF423189 EMBL AF423190 http://www.ebi.ac.uk/ena/data/view/AF423190 EMBL AF423191 http://www.ebi.ac.uk/ena/data/view/AF423191 EMBL AF423192 http://www.ebi.ac.uk/ena/data/view/AF423192 EMBL AF465485 http://www.ebi.ac.uk/ena/data/view/AF465485 EMBL AL139814 http://www.ebi.ac.uk/ena/data/view/AL139814 EMBL AL139814 http://www.ebi.ac.uk/ena/data/view/AL139814 EMBL AL139814 http://www.ebi.ac.uk/ena/data/view/AL139814 EMBL AL139814 http://www.ebi.ac.uk/ena/data/view/AL139814 EMBL AL139814 http://www.ebi.ac.uk/ena/data/view/AL139814 EMBL AL139814 http://www.ebi.ac.uk/ena/data/view/AL139814 EMBL AL139814 http://www.ebi.ac.uk/ena/data/view/AL139814 EMBL AL139814 http://www.ebi.ac.uk/ena/data/view/AL139814 EMBL AL139814 http://www.ebi.ac.uk/ena/data/view/AL139814 EMBL AL139814 http://www.ebi.ac.uk/ena/data/view/AL139814 EMBL AL139814 http://www.ebi.ac.uk/ena/data/view/AL139814 EMBL AL139814 http://www.ebi.ac.uk/ena/data/view/AL139814 EMBL AL139814 http://www.ebi.ac.uk/ena/data/view/AL139814 EMBL AL139814 http://www.ebi.ac.uk/ena/data/view/AL139814 EMBL AL139814 http://www.ebi.ac.uk/ena/data/view/AL139814 EMBL AL139814 http://www.ebi.ac.uk/ena/data/view/AL139814 EMBL AL139814 http://www.ebi.ac.uk/ena/data/view/AL139814 EMBL AL139814 http://www.ebi.ac.uk/ena/data/view/AL139814 EMBL AL139814 http://www.ebi.ac.uk/ena/data/view/AL139814 EMBL AL139814 http://www.ebi.ac.uk/ena/data/view/AL139814 EMBL AL139814 http://www.ebi.ac.uk/ena/data/view/AL139814 EMBL AL139814 http://www.ebi.ac.uk/ena/data/view/AL139814 EMBL AL139814 http://www.ebi.ac.uk/ena/data/view/AL139814 EMBL AL139814 http://www.ebi.ac.uk/ena/data/view/AL139814 EMBL AL139814 http://www.ebi.ac.uk/ena/data/view/AL139814 EMBL AL139814 http://www.ebi.ac.uk/ena/data/view/AL139814 EMBL AL139814 http://www.ebi.ac.uk/ena/data/view/AL139814 EMBL AL139814 http://www.ebi.ac.uk/ena/data/view/AL139814 EMBL AL353603 http://www.ebi.ac.uk/ena/data/view/AL353603 EMBL AL360231 http://www.ebi.ac.uk/ena/data/view/AL360231 EMBL AL360231 http://www.ebi.ac.uk/ena/data/view/AL360231 EMBL AL360231 http://www.ebi.ac.uk/ena/data/view/AL360231 EMBL AL360231 http://www.ebi.ac.uk/ena/data/view/AL360231 EMBL AL360231 http://www.ebi.ac.uk/ena/data/view/AL360231 EMBL AL360231 http://www.ebi.ac.uk/ena/data/view/AL360231 EMBL AL360231 http://www.ebi.ac.uk/ena/data/view/AL360231 EMBL AL360231 http://www.ebi.ac.uk/ena/data/view/AL360231 EMBL AL360231 http://www.ebi.ac.uk/ena/data/view/AL360231 EMBL AL360231 http://www.ebi.ac.uk/ena/data/view/AL360231 EMBL AL360231 http://www.ebi.ac.uk/ena/data/view/AL360231 EMBL AL360231 http://www.ebi.ac.uk/ena/data/view/AL360231 EMBL AL360231 http://www.ebi.ac.uk/ena/data/view/AL360231 EMBL AL360231 http://www.ebi.ac.uk/ena/data/view/AL360231 EMBL AL360231 http://www.ebi.ac.uk/ena/data/view/AL360231 EMBL AL360231 http://www.ebi.ac.uk/ena/data/view/AL360231 EMBL AL390783 http://www.ebi.ac.uk/ena/data/view/AL390783 EMBL AL390783 http://www.ebi.ac.uk/ena/data/view/AL390783 EMBL AL390783 http://www.ebi.ac.uk/ena/data/view/AL390783 EMBL AL390783 http://www.ebi.ac.uk/ena/data/view/AL390783 EMBL AL390783 http://www.ebi.ac.uk/ena/data/view/AL390783 EMBL AL390783 http://www.ebi.ac.uk/ena/data/view/AL390783 EMBL AL390783 http://www.ebi.ac.uk/ena/data/view/AL390783 EMBL AL390783 http://www.ebi.ac.uk/ena/data/view/AL390783 EMBL AL390783 http://www.ebi.ac.uk/ena/data/view/AL390783 EMBL AL390783 http://www.ebi.ac.uk/ena/data/view/AL390783 EMBL AL390783 http://www.ebi.ac.uk/ena/data/view/AL390783 EMBL AL390783 http://www.ebi.ac.uk/ena/data/view/AL390783 EMBL AL450364 http://www.ebi.ac.uk/ena/data/view/AL450364 EMBL AL450364 http://www.ebi.ac.uk/ena/data/view/AL450364 EMBL AL450364 http://www.ebi.ac.uk/ena/data/view/AL450364 EMBL AL450364 http://www.ebi.ac.uk/ena/data/view/AL450364 EMBL AL450364 http://www.ebi.ac.uk/ena/data/view/AL450364 EMBL AL450364 http://www.ebi.ac.uk/ena/data/view/AL450364 EMBL AL450364 http://www.ebi.ac.uk/ena/data/view/AL450364 EMBL AL450364 http://www.ebi.ac.uk/ena/data/view/AL450364 EMBL AL450364 http://www.ebi.ac.uk/ena/data/view/AL450364 EMBL AL450364 http://www.ebi.ac.uk/ena/data/view/AL450364 EMBL AL450364 http://www.ebi.ac.uk/ena/data/view/AL450364 EMBL AL450364 http://www.ebi.ac.uk/ena/data/view/AL450364 EMBL AL450364 http://www.ebi.ac.uk/ena/data/view/AL450364 EMBL AL450364 http://www.ebi.ac.uk/ena/data/view/AL450364 EMBL AL450364 http://www.ebi.ac.uk/ena/data/view/AL450364 EMBL AL450364 http://www.ebi.ac.uk/ena/data/view/AL450364 EMBL AL450364 http://www.ebi.ac.uk/ena/data/view/AL450364 EMBL AL450364 http://www.ebi.ac.uk/ena/data/view/AL450364 EMBL AL450364 http://www.ebi.ac.uk/ena/data/view/AL450364 EMBL AL450364 http://www.ebi.ac.uk/ena/data/view/AL450364 EMBL AL450364 http://www.ebi.ac.uk/ena/data/view/AL450364 EMBL AL450364 http://www.ebi.ac.uk/ena/data/view/AL450364 EMBL AL450364 http://www.ebi.ac.uk/ena/data/view/AL450364 EMBL AL450364 http://www.ebi.ac.uk/ena/data/view/AL450364 EMBL AL450364 http://www.ebi.ac.uk/ena/data/view/AL450364 EMBL AL450364 http://www.ebi.ac.uk/ena/data/view/AL450364 EMBL AL450364 http://www.ebi.ac.uk/ena/data/view/AL450364 EMBL AL450364 http://www.ebi.ac.uk/ena/data/view/AL450364 EMBL AL450384 http://www.ebi.ac.uk/ena/data/view/AL450384 EMBL AL450384 http://www.ebi.ac.uk/ena/data/view/AL450384 EMBL AL450384 http://www.ebi.ac.uk/ena/data/view/AL450384 EMBL AL450384 http://www.ebi.ac.uk/ena/data/view/AL450384 EMBL AL450384 http://www.ebi.ac.uk/ena/data/view/AL450384 EMBL AL450384 http://www.ebi.ac.uk/ena/data/view/AL450384 EMBL AL450384 http://www.ebi.ac.uk/ena/data/view/AL450384 EMBL AL450384 http://www.ebi.ac.uk/ena/data/view/AL450384 EMBL AL450384 http://www.ebi.ac.uk/ena/data/view/AL450384 EMBL AL450384 http://www.ebi.ac.uk/ena/data/view/AL450384 EMBL AL450384 http://www.ebi.ac.uk/ena/data/view/AL450384 EMBL AL450384 http://www.ebi.ac.uk/ena/data/view/AL450384 EMBL AL450384 http://www.ebi.ac.uk/ena/data/view/AL450384 EMBL AL450384 http://www.ebi.ac.uk/ena/data/view/AL450384 EMBL AL450384 http://www.ebi.ac.uk/ena/data/view/AL450384 EMBL AL450384 http://www.ebi.ac.uk/ena/data/view/AL450384 EMBL AL450384 http://www.ebi.ac.uk/ena/data/view/AL450384 EMBL AL450384 http://www.ebi.ac.uk/ena/data/view/AL450384 EMBL AL450384 http://www.ebi.ac.uk/ena/data/view/AL450384 EMBL AL450384 http://www.ebi.ac.uk/ena/data/view/AL450384 EMBL AL450384 http://www.ebi.ac.uk/ena/data/view/AL450384 EMBL AL450384 http://www.ebi.ac.uk/ena/data/view/AL450384 EMBL AL450384 http://www.ebi.ac.uk/ena/data/view/AL450384 EMBL AL450384 http://www.ebi.ac.uk/ena/data/view/AL450384 EMBL AL450384 http://www.ebi.ac.uk/ena/data/view/AL450384 EMBL AL450384 http://www.ebi.ac.uk/ena/data/view/AL450384 EMBL AL450384 http://www.ebi.ac.uk/ena/data/view/AL450384 EMBL AL450384 http://www.ebi.ac.uk/ena/data/view/AL450384 EMBL AY027893 http://www.ebi.ac.uk/ena/data/view/AY027893 EMBL AY027894 http://www.ebi.ac.uk/ena/data/view/AY027894 EMBL AY027895 http://www.ebi.ac.uk/ena/data/view/AY027895 EMBL AY027896 http://www.ebi.ac.uk/ena/data/view/AY027896 EMBL AY027897 http://www.ebi.ac.uk/ena/data/view/AY027897 EMBL AY027898 http://www.ebi.ac.uk/ena/data/view/AY027898 EMBL AY393858 http://www.ebi.ac.uk/ena/data/view/AY393858 EMBL AY393859 http://www.ebi.ac.uk/ena/data/view/AY393859 EMBL AY393860 http://www.ebi.ac.uk/ena/data/view/AY393860 EMBL AY393861 http://www.ebi.ac.uk/ena/data/view/AY393861 EMBL AY393862 http://www.ebi.ac.uk/ena/data/view/AY393862 EMBL BC136409 http://www.ebi.ac.uk/ena/data/view/BC136409 EMBL CH471072 http://www.ebi.ac.uk/ena/data/view/CH471072 EMBL CH471072 http://www.ebi.ac.uk/ena/data/view/CH471072 EMBL S60415 http://www.ebi.ac.uk/ena/data/view/S60415 EMBL U95019 http://www.ebi.ac.uk/ena/data/view/U95019 Ensembl ENST00000282343 http://www.ensembl.org/id/ENST00000282343 Ensembl ENST00000324631 http://www.ensembl.org/id/ENST00000324631 Ensembl ENST00000352115 http://www.ensembl.org/id/ENST00000352115 Ensembl ENST00000377315 http://www.ensembl.org/id/ENST00000377315 Ensembl ENST00000377319 http://www.ensembl.org/id/ENST00000377319 Ensembl ENST00000377329 http://www.ensembl.org/id/ENST00000377329 Ensembl ENST00000377331 http://www.ensembl.org/id/ENST00000377331 Ensembl ENST00000396576 http://www.ensembl.org/id/ENST00000396576 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0005891 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005891 GO_component GO:1990454 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1990454 GO_function GO:0005245 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005245 GO_function GO:0005262 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005262 GO_function GO:0051015 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051015 GO_process GO:0007268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007268 GO_process GO:0007528 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007528 GO_process GO:0007601 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007601 GO_process GO:0051928 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051928 GO_process GO:0061337 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061337 GO_process GO:0070509 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070509 GO_process GO:0086045 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086045 GO_process GO:0086091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086091 GO_process GO:0090002 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090002 GO_process GO:0098912 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0098912 GO_process GO:1901385 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1901385 GO_process GO:1901843 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1901843 GO_process GO:1904879 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1904879 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0008092 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008092 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 Gene3D 3.40.50.300 http://www.cathdb.info/version/latest/superfamily/3.40.50.300 GeneCards CACNB2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CACNB2 GeneID 783 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=783 GeneTree ENSGT00390000002740 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000002740 HGNC HGNC:1402 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:1402 HOGENOM HOG000230979 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000230979&db=HOGENOM6 HOVERGEN HBG050765 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050765&db=HOVERGEN HPA HPA035325 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA035325 HPA HPA035326 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA035326 InParanoid Q08289 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q08289 IntAct Q08289 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q08289* InterPro IPR000584 http://www.ebi.ac.uk/interpro/entry/IPR000584 InterPro IPR001452 http://www.ebi.ac.uk/interpro/entry/IPR001452 InterPro IPR005444 http://www.ebi.ac.uk/interpro/entry/IPR005444 InterPro IPR008145 http://www.ebi.ac.uk/interpro/entry/IPR008145 InterPro IPR027417 http://www.ebi.ac.uk/interpro/entry/IPR027417 Jabion 783 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=783 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00728 http://www.genome.jp/dbget-bin/www_bget?H00728 KEGG_Gene hsa:783 http://www.genome.jp/dbget-bin/www_bget?hsa:783 KEGG_Orthology KO:K04863 http://www.genome.jp/dbget-bin/www_bget?KO:K04863 KEGG_Pathway ko04010 http://www.genome.jp/kegg-bin/show_pathway?ko04010 KEGG_Pathway ko04260 http://www.genome.jp/kegg-bin/show_pathway?ko04260 KEGG_Pathway ko05410 http://www.genome.jp/kegg-bin/show_pathway?ko05410 KEGG_Pathway ko05412 http://www.genome.jp/kegg-bin/show_pathway?ko05412 KEGG_Pathway ko05414 http://www.genome.jp/kegg-bin/show_pathway?ko05414 MIM 600003 http://www.ncbi.nlm.nih.gov/omim/600003 MIM 611876 http://www.ncbi.nlm.nih.gov/omim/611876 OMA YCDKDGE http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=YCDKDGE Orphanet 130 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=130 OrthoDB EOG091G09C1 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G09C1 PANTHER PTHR11824 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11824 PRINTS PR01626 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01626 PRINTS PR01628 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01628 PROSITE PS50002 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50002 PSORT swissprot:CACB2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CACB2_HUMAN PSORT-B swissprot:CACB2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CACB2_HUMAN PSORT2 swissprot:CACB2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CACB2_HUMAN Pfam PF00625 http://pfam.xfam.org/family/PF00625 Pfam PF12052 http://pfam.xfam.org/family/PF12052 PharmGKB PA88 http://www.pharmgkb.org/do/serve?objId=PA88&objCls=Gene Phobius swissprot:CACB2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CACB2_HUMAN PhylomeDB Q08289 http://phylomedb.org/?seqid=Q08289 ProteinModelPortal Q08289 http://www.proteinmodelportal.org/query/uniprot/Q08289 PubMed 12042350 http://www.ncbi.nlm.nih.gov/pubmed/12042350 PubMed 14762176 http://www.ncbi.nlm.nih.gov/pubmed/14762176 PubMed 15164054 http://www.ncbi.nlm.nih.gov/pubmed/15164054 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16959974 http://www.ncbi.nlm.nih.gov/pubmed/16959974 PubMed 17224476 http://www.ncbi.nlm.nih.gov/pubmed/17224476 PubMed 17525370 http://www.ncbi.nlm.nih.gov/pubmed/17525370 PubMed 22419821 http://www.ncbi.nlm.nih.gov/pubmed/22419821 PubMed 8494331 http://www.ncbi.nlm.nih.gov/pubmed/8494331 PubMed 9254841 http://www.ncbi.nlm.nih.gov/pubmed/9254841 Reactome R-HSA-112308 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-112308 Reactome R-HSA-400042 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-400042 Reactome R-HSA-419037 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-419037 Reactome R-HSA-422356 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-422356 Reactome R-HSA-5576892 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576892 Reactome R-HSA-5576893 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576893 Reactome R-HSA-5576894 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576894 RefSeq NP_000715 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000715 RefSeq NP_001316989 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001316989 RefSeq NP_963864 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_963864 RefSeq NP_963865 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_963865 RefSeq NP_963866 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_963866 RefSeq NP_963884 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_963884 RefSeq NP_963887 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_963887 RefSeq NP_963890 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_963890 RefSeq NP_963891 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_963891 RefSeq XP_011517961 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011517961 SMART SM00072 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00072 SMART SM00326 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00326 SMR Q08289 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q08289 STRING 9606.ENSP00000320025 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000320025&targetmode=cogs SUPFAM SSF50044 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF50044 SUPFAM SSF52540 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52540 TCDB 8.A.22.1 http://www.tcdb.org/search/result.php?tc=8.A.22.1 UCSC uc001ipr http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001ipr&org=rat UniGene Hs.59093 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.59093 UniProtKB CACB2_HUMAN http://www.uniprot.org/uniprot/CACB2_HUMAN UniProtKB-AC Q08289 http://www.uniprot.org/uniprot/Q08289 charge swissprot:CACB2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CACB2_HUMAN eggNOG ENOG410XRDI http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XRDI eggNOG KOG3812 http://eggnogapi.embl.de/nog_data/html/tree/KOG3812 epestfind swissprot:CACB2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CACB2_HUMAN garnier swissprot:CACB2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CACB2_HUMAN helixturnhelix swissprot:CACB2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CACB2_HUMAN hmoment swissprot:CACB2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CACB2_HUMAN iep swissprot:CACB2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CACB2_HUMAN inforesidue swissprot:CACB2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CACB2_HUMAN neXtProt NX_Q08289 http://www.nextprot.org/db/entry/NX_Q08289 octanol swissprot:CACB2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CACB2_HUMAN pepcoil swissprot:CACB2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CACB2_HUMAN pepdigest swissprot:CACB2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CACB2_HUMAN pepinfo swissprot:CACB2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CACB2_HUMAN pepnet swissprot:CACB2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CACB2_HUMAN pepstats swissprot:CACB2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CACB2_HUMAN pepwheel swissprot:CACB2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CACB2_HUMAN pepwindow swissprot:CACB2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CACB2_HUMAN sigcleave swissprot:CACB2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CACB2_HUMAN ## Database ID URL or Descriptions # AltName IMA6_HUMAN Karyopherin subunit alpha-5 # BioGrid 110039 25 # ChiTaRS KPNA5 human # DOMAIN IMA6_HUMAN Consists of an N-terminal hydrophilic region, a hydrophobic central region composed of 10 repeats, and a short hydrophilic C-terminus. The N-terminal hydrophilic region contains the importin beta binding domain (IBB domain), which is sufficient for binding importin beta and essential for nuclear protein import. # DOMAIN IMA6_HUMAN The IBB domain is thought to act as an intrasteric autoregulatory sequence by interacting with the internal autoinhibitory NLS. Binding of KPNB1 probably overlaps the internal NLS and contributes to a high affinity for cytoplasmic NLS-containing cargo substrates. After dissociation of the importin/substrate complex in the nucleus the internal autohibitory NLS contributes to a low affinity for nuclear NLS- containing proteins (By similarity). {ECO 0000250}. # DOMAIN IMA6_HUMAN The major and minor NLS binding sites are mainly involved in recognition of simple or bipartite NLS motifs. Structurally located within in a helical surface groove they contain several conserved Trp and Asn residues of the corresponding third helices (H3) of ARM repeats which mainly contribute to binding (By similarity). {ECO 0000250}. # Ensembl ENST00000356348 ENSP00000348704; ENSG00000196911 # Ensembl ENST00000368564 ENSP00000357552; ENSG00000196911 # ExpressionAtlas O15131 baseline and differential # FUNCTION IMA6_HUMAN Functions in nuclear protein import as an adapter protein for nuclear receptor KPNB1. Binds specifically and directly to substrates containing either a simple or bipartite NLS motif. Docking of the importin/substrate complex to the nuclear pore complex (NPC) is mediated by KPNB1 through binding to nucleoporin FxFG repeats and the complex is subsequently translocated through the pore by an energy requiring, Ran- dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to importin-beta and the three components separate and importin-alpha and -beta are re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran from importin. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. Mediates nuclear import of STAT1 homodimers and STAT1/STAT2 heterodimers by recognizing non- classical NLSs of STAT1 and STAT2 through ARM repeats 8-9. Recognizes influenza A virus nucleoprotein through ARM repeat 7-9 In vitro, mediates the nuclear import of human cytomegalovirus UL84 by recognizing a non-classical NLS. # GO_component GO:0005643 nuclear pore; IBA:GO_Central. # GO_component GO:0005654 nucleoplasm; IBA:GO_Central. # GO_component GO:0005737 cytoplasm; IDA:HPA. # GO_component GO:0005829 cytosol; IBA:GO_Central. # GO_function GO:0008139 nuclear localization sequence binding; IBA:GO_Central. # GO_function GO:0008565 protein transporter activity; IBA:GO_Central. # GO_process GO:0006607 NLS-bearing protein import into nucleus; TAS:ProtInc. # GO_process GO:0019054 modulation by virus of host process; TAS:Reactome. # GO_process GO:0075733 intracellular transport of virus; TAS:Reactome. # GOslim_component GO:0005654 nucleoplasm # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005829 cytosol # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0008565 protein transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0006913 nucleocytoplasmic transport # GOslim_process GO:0044403 symbiosis, encompassing mutualism through parasitism # Gene3D 1.25.10.10 -; 1. # Genevisible O15131 HS # HGNC HGNC:6398 KPNA5 # INTERACTION IMA6_HUMAN Q92688 ANP32B; NbExp=3; IntAct=EBI-540602, EBI-762428; P46527 CDKN1B; NbExp=6; IntAct=EBI-540602, EBI-519280; Q9UKX7 NUP50; NbExp=3; IntAct=EBI-540602, EBI-2371082; Q6IQ16 SPOPL; NbExp=3; IntAct=EBI-540602, EBI-2822161; # IntAct O15131 13 # InterPro IPR000225 Armadillo # InterPro IPR002652 Importin-a_IBB # InterPro IPR011989 ARM-like # InterPro IPR016024 ARM-type_fold # InterPro IPR024931 Importing_su_alpha # InterPro IPR032413 Arm_3 # MIM 604545 gene # Organism IMA6_HUMAN Homo sapiens (Human) # PDB 4U2X X-ray; 3.15 A; D/E/F=329-503 # PIRSF PIRSF005673 Importin_alpha # PROSITE PS50176 ARM_REPEAT; 2 # PROSITE PS51214 IBB # Pfam PF00514 Arm; 8 # Pfam PF01749 IBB # Pfam PF16186 Arm_3 # Proteomes UP000005640 Chromosome 6 # Reactome R-HSA-1169408 ISG15 antiviral mechanism # Reactome R-HSA-168276 NS1 Mediated Effects on Host Pathways # RecName IMA6_HUMAN Importin subunit alpha-6 # RefSeq NP_002260 NM_002269.2 # RefSeq XP_016866328 XM_017010839.1 # RefSeq XP_016866329 XM_017010840.1 # SEQUENCE CAUTION Sequence=AAH47409.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAI20500.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the importin alpha family. {ECO 0000305}. # SIMILARITY Contains 1 IBB domain. {ECO:0000255|PROSITE- ProRule PRU00561}. # SIMILARITY Contains 10 ARM repeats. {ECO:0000255|PROSITE- ProRule PRU00259}. # SMART SM00185 ARM; 8 # SUBCELLULAR LOCATION IMA6_HUMAN Cytoplasm. # SUBUNIT IMA6_HUMAN Forms a complex with importin subunit beta-1. # SUPFAM SSF48371 SSF48371 # TCDB 1.I.1.1 the nuclear pore complex (npc) family # TISSUE SPECIFICITY IMA6_HUMAN Testis. # UCSC uc003pxh human # eggNOG COG5064 LUCA # eggNOG KOG0166 Eukaryota BLAST swissprot:IMA6_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:IMA6_HUMAN BioCyc ZFISH:G66-30800-MONOMER http://biocyc.org/getid?id=ZFISH:G66-30800-MONOMER COXPRESdb 3841 http://coxpresdb.jp/data/gene/3841.shtml CleanEx HS_KPNA5 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KPNA5 DIP DIP-33405N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-33405N DOI 10.1016/S0014-5793(97)01265-9 http://dx.doi.org/10.1016/S0014-5793(97)01265-9 DOI 10.1038/nature02055 http://dx.doi.org/10.1038/nature02055 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.M303571200 http://dx.doi.org/10.1074/jbc.M303571200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1133427 http://dx.doi.org/10.1126/science.1133427 DOI 10.1128/JVI.77.6.3734-3748.2003 http://dx.doi.org/10.1128/JVI.77.6.3734-3748.2003 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AF005361 http://www.ebi.ac.uk/ena/data/view/AF005361 EMBL AK314206 http://www.ebi.ac.uk/ena/data/view/AK314206 EMBL AL132795 http://www.ebi.ac.uk/ena/data/view/AL132795 EMBL BC047409 http://www.ebi.ac.uk/ena/data/view/BC047409 EMBL CH471051 http://www.ebi.ac.uk/ena/data/view/CH471051 Ensembl ENST00000356348 http://www.ensembl.org/id/ENST00000356348 Ensembl ENST00000368564 http://www.ensembl.org/id/ENST00000368564 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005643 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005643 GO_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_function GO:0008139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008139 GO_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GO_process GO:0006607 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006607 GO_process GO:0019054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019054 GO_process GO:0075733 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0075733 GOslim_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006913 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006913 GOslim_process GO:0044403 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044403 Gene3D 1.25.10.10 http://www.cathdb.info/version/latest/superfamily/1.25.10.10 GeneCards KPNA5 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KPNA5 GeneID 3841 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=3841 HGNC HGNC:6398 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6398 HOGENOM HOG000167616 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000167616&db=HOGENOM6 HOVERGEN HBG001846 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG001846&db=HOVERGEN HPA CAB026464 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB026464 HPA HPA054037 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA054037 InParanoid O15131 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O15131 IntAct O15131 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O15131* InterPro IPR000225 http://www.ebi.ac.uk/interpro/entry/IPR000225 InterPro IPR002652 http://www.ebi.ac.uk/interpro/entry/IPR002652 InterPro IPR011989 http://www.ebi.ac.uk/interpro/entry/IPR011989 InterPro IPR016024 http://www.ebi.ac.uk/interpro/entry/IPR016024 InterPro IPR024931 http://www.ebi.ac.uk/interpro/entry/IPR024931 InterPro IPR032413 http://www.ebi.ac.uk/interpro/entry/IPR032413 Jabion 3841 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=3841 KEGG_Gene hsa:3841 http://www.genome.jp/dbget-bin/www_bget?hsa:3841 MIM 604545 http://www.ncbi.nlm.nih.gov/omim/604545 MINT MINT-2860255 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-2860255 OrthoDB EOG091G095Z http://cegg.unige.ch/orthodb/results?searchtext=EOG091G095Z PDB 4U2X http://www.ebi.ac.uk/pdbe-srv/view/entry/4U2X PDBsum 4U2X http://www.ebi.ac.uk/pdbsum/4U2X PROSITE PS50176 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50176 PROSITE PS51214 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51214 PSORT swissprot:IMA6_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:IMA6_HUMAN PSORT-B swissprot:IMA6_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:IMA6_HUMAN PSORT2 swissprot:IMA6_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:IMA6_HUMAN Pfam PF00514 http://pfam.xfam.org/family/PF00514 Pfam PF01749 http://pfam.xfam.org/family/PF01749 Pfam PF16186 http://pfam.xfam.org/family/PF16186 PharmGKB PA30189 http://www.pharmgkb.org/do/serve?objId=PA30189&objCls=Gene Phobius swissprot:IMA6_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:IMA6_HUMAN PhylomeDB O15131 http://phylomedb.org/?seqid=O15131 ProteinModelPortal O15131 http://www.proteinmodelportal.org/query/uniprot/O15131 PubMed 12610148 http://www.ncbi.nlm.nih.gov/pubmed/12610148 PubMed 12740372 http://www.ncbi.nlm.nih.gov/pubmed/12740372 PubMed 14574404 http://www.ncbi.nlm.nih.gov/pubmed/14574404 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16959974 http://www.ncbi.nlm.nih.gov/pubmed/16959974 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 9395085 http://www.ncbi.nlm.nih.gov/pubmed/9395085 Reactome R-HSA-1169408 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1169408 Reactome R-HSA-168276 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-168276 RefSeq NP_002260 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_002260 RefSeq XP_016866328 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016866328 RefSeq XP_016866329 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016866329 SMART SM00185 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00185 SMR O15131 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=O15131 STRING 9606.ENSP00000348704 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000348704&targetmode=cogs SUPFAM SSF48371 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48371 TCDB 1.I.1.1 http://www.tcdb.org/search/result.php?tc=1.I.1.1 UCSC uc003pxh http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003pxh&org=rat UniGene Hs.182971 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.182971 UniProtKB IMA6_HUMAN http://www.uniprot.org/uniprot/IMA6_HUMAN UniProtKB-AC O15131 http://www.uniprot.org/uniprot/O15131 charge swissprot:IMA6_HUMAN http://rest.g-language.org/emboss/charge/swissprot:IMA6_HUMAN eggNOG COG5064 http://eggnogapi.embl.de/nog_data/html/tree/COG5064 eggNOG KOG0166 http://eggnogapi.embl.de/nog_data/html/tree/KOG0166 epestfind swissprot:IMA6_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:IMA6_HUMAN garnier swissprot:IMA6_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:IMA6_HUMAN helixturnhelix swissprot:IMA6_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:IMA6_HUMAN hmoment swissprot:IMA6_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:IMA6_HUMAN iep swissprot:IMA6_HUMAN http://rest.g-language.org/emboss/iep/swissprot:IMA6_HUMAN inforesidue swissprot:IMA6_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:IMA6_HUMAN neXtProt NX_O15131 http://www.nextprot.org/db/entry/NX_O15131 octanol swissprot:IMA6_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:IMA6_HUMAN pepcoil swissprot:IMA6_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:IMA6_HUMAN pepdigest swissprot:IMA6_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:IMA6_HUMAN pepinfo swissprot:IMA6_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:IMA6_HUMAN pepnet swissprot:IMA6_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:IMA6_HUMAN pepstats swissprot:IMA6_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:IMA6_HUMAN pepwheel swissprot:IMA6_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:IMA6_HUMAN pepwindow swissprot:IMA6_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:IMA6_HUMAN sigcleave swissprot:IMA6_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:IMA6_HUMAN ## Database ID URL or Descriptions # AltName GHC1_HUMAN Glutamate/H(+) symporter 1 # AltName GHC1_HUMAN Solute carrier family 25 member 22 # BioGrid 122862 32 # DISEASE GHC1_HUMAN Epileptic encephalopathy, early infantile, 3 (EIEE3) [MIM 609304] A severe form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high- voltage bursts alternating with almost flat suppression phases. Epileptic encephalopathy early infantile type 3 is characterized by a very early onset, erratic and fragmentary myoclonus, massive myoclonus, partial motor seizures and late tonic spasms. The prognosis is poor, with no effective treatment, and children with the condition either die within 1 to 2 years after birth or survive in a persistent vegetative state. {ECO 0000269|PubMed 15592994}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000320230 ENSP00000322020; ENSG00000177542 # Ensembl ENST00000531214 ENSP00000437236; ENSG00000177542 # Ensembl ENST00000628067 ENSP00000486058; ENSG00000177542 # ExpressionAtlas Q9H936 baseline and differential # FUNCTION GHC1_HUMAN Involved in the transport of glutamate across the inner mitochondrial membrane. Glutamate is cotransported with H(+). {ECO 0000269|PubMed 11897791}. # GO_component GO:0005654 nucleoplasm; IDA:HPA. # GO_component GO:0005739 mitochondrion; IDA:HPA. # GO_component GO:0005743 mitochondrial inner membrane; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0005313 L-glutamate transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0015293 symporter activity; IEA:UniProtKB-KW. # GO_process GO:0015813 L-glutamate transport; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005654 nucleoplasm # GOslim_component GO:0005739 mitochondrion # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # Gene3D 1.50.40.10 -; 1. # Genevisible Q9H936 HS # HGNC HGNC:19954 SLC25A22 # IntAct Q9H936 26 # InterPro IPR002067 Mit_carrier # InterPro IPR018108 Mitochondrial_sb/sol_carrier # InterPro IPR023395 Mt_carrier_dom # KEGG_Brite ko02001 Solute carrier family # KEGG_Disease H00606 [Congenital disorder; Epilepsy] Ohtahara syndrome # MIM 609302 gene # MIM 609304 phenotype # Organism GHC1_HUMAN Homo sapiens (Human) # Orphanet 1934 Early infantile epileptic encephalopathy # Orphanet 1935 Early myoclonic encephalopathy # Orphanet 293181 Malignant migrating partial seizures of infancy # PRINTS PR00926 MITOCARRIER # PROSITE PS50920 SOLCAR; 3 # Pfam PF00153 Mito_carr; 3 # Proteomes UP000005640 Chromosome 11 # Reactome R-HSA-428643 Organic anion transporters # RecName GHC1_HUMAN Mitochondrial glutamate carrier 1 # RefSeq NP_001177989 NM_001191060.1 # RefSeq NP_001177990 NM_001191061.1 # RefSeq NP_078974 NM_024698.5 # RefSeq XP_011518671 XM_011520369.1 # RefSeq XP_011518672 XM_011520370.1 # RefSeq XP_011518673 XM_011520371.1 # SEQUENCE CAUTION Sequence=AAH24212.2; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the mitochondrial carrier (TC 2.A.29) family. {ECO 0000305}. # SIMILARITY Contains 3 Solcar repeats. {ECO:0000255|PROSITE- ProRule PRU00282}. # SUBCELLULAR LOCATION GHC1_HUMAN Mitochondrion inner membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # SUPFAM SSF103506 SSF103506 # TCDB 2.A.29.14 the mitochondrial carrier (mc) family # TISSUE SPECIFICITY GHC1_HUMAN Highly expressed in most tissues. # UCSC uc001lri human # eggNOG ENOG410Y240 LUCA # eggNOG KOG0750 Eukaryota BLAST swissprot:GHC1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:GHC1_HUMAN BioCyc ZFISH:ENSG00000177542-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000177542-MONOMER COXPRESdb 79751 http://coxpresdb.jp/data/gene/79751.shtml CleanEx HS_SLC25A22 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC25A22 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1038/nature04632 http://dx.doi.org/10.1038/nature04632 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.M201572200 http://dx.doi.org/10.1074/jbc.M201572200 DOI 10.1086/427564 http://dx.doi.org/10.1086/427564 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AJ428202 http://www.ebi.ac.uk/ena/data/view/AJ428202 EMBL AK023106 http://www.ebi.ac.uk/ena/data/view/AK023106 EMBL AK290481 http://www.ebi.ac.uk/ena/data/view/AK290481 EMBL AP006621 http://www.ebi.ac.uk/ena/data/view/AP006621 EMBL BC019033 http://www.ebi.ac.uk/ena/data/view/BC019033 EMBL BC023545 http://www.ebi.ac.uk/ena/data/view/BC023545 EMBL BC024212 http://www.ebi.ac.uk/ena/data/view/BC024212 Ensembl ENST00000320230 http://www.ensembl.org/id/ENST00000320230 Ensembl ENST00000531214 http://www.ensembl.org/id/ENST00000531214 Ensembl ENST00000628067 http://www.ensembl.org/id/ENST00000628067 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005313 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005313 GO_function GO:0015293 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015293 GO_process GO:0015813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015813 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 Gene3D 1.50.40.10 http://www.cathdb.info/version/latest/superfamily/1.50.40.10 GeneCards SLC25A22 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC25A22 GeneID 79751 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=79751 GeneTree ENSGT00530000062944 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000062944 HGNC HGNC:19954 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:19954 HOGENOM HOG000168308 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000168308&db=HOGENOM6 HOVERGEN HBG039469 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG039469&db=HOVERGEN HPA HPA014662 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA014662 InParanoid Q9H936 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9H936 IntAct Q9H936 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9H936* InterPro IPR002067 http://www.ebi.ac.uk/interpro/entry/IPR002067 InterPro IPR018108 http://www.ebi.ac.uk/interpro/entry/IPR018108 InterPro IPR023395 http://www.ebi.ac.uk/interpro/entry/IPR023395 Jabion 79751 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=79751 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Disease H00606 http://www.genome.jp/dbget-bin/www_bget?H00606 KEGG_Gene hsa:79751 http://www.genome.jp/dbget-bin/www_bget?hsa:79751 KEGG_Orthology KO:K15107 http://www.genome.jp/dbget-bin/www_bget?KO:K15107 MIM 609302 http://www.ncbi.nlm.nih.gov/omim/609302 MIM 609304 http://www.ncbi.nlm.nih.gov/omim/609304 OMA AQRKLMP http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=AQRKLMP Orphanet 1934 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1934 Orphanet 1935 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1935 Orphanet 293181 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=293181 OrthoDB EOG091G08GT http://cegg.unige.ch/orthodb/results?searchtext=EOG091G08GT PRINTS PR00926 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00926 PROSITE PS50920 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50920 PSORT swissprot:GHC1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:GHC1_HUMAN PSORT-B swissprot:GHC1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:GHC1_HUMAN PSORT2 swissprot:GHC1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:GHC1_HUMAN Pfam PF00153 http://pfam.xfam.org/family/PF00153 PharmGKB PA134955826 http://www.pharmgkb.org/do/serve?objId=PA134955826&objCls=Gene Phobius swissprot:GHC1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:GHC1_HUMAN PhylomeDB Q9H936 http://phylomedb.org/?seqid=Q9H936 ProteinModelPortal Q9H936 http://www.proteinmodelportal.org/query/uniprot/Q9H936 PubMed 11897791 http://www.ncbi.nlm.nih.gov/pubmed/11897791 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15592994 http://www.ncbi.nlm.nih.gov/pubmed/15592994 PubMed 16554811 http://www.ncbi.nlm.nih.gov/pubmed/16554811 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 Reactome R-HSA-428643 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-428643 RefSeq NP_001177989 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001177989 RefSeq NP_001177990 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001177990 RefSeq NP_078974 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_078974 RefSeq XP_011518671 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011518671 RefSeq XP_011518672 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011518672 RefSeq XP_011518673 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011518673 STRING 9606.ENSP00000322020 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000322020&targetmode=cogs SUPFAM SSF103506 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103506 TCDB 2.A.29.14 http://www.tcdb.org/search/result.php?tc=2.A.29.14 UCSC uc001lri http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001lri&org=rat UniGene Hs.99486 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.99486 UniProtKB GHC1_HUMAN http://www.uniprot.org/uniprot/GHC1_HUMAN UniProtKB-AC Q9H936 http://www.uniprot.org/uniprot/Q9H936 charge swissprot:GHC1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:GHC1_HUMAN eggNOG ENOG410Y240 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410Y240 eggNOG KOG0750 http://eggnogapi.embl.de/nog_data/html/tree/KOG0750 epestfind swissprot:GHC1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:GHC1_HUMAN garnier swissprot:GHC1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:GHC1_HUMAN helixturnhelix swissprot:GHC1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:GHC1_HUMAN hmoment swissprot:GHC1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:GHC1_HUMAN iep swissprot:GHC1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:GHC1_HUMAN inforesidue swissprot:GHC1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:GHC1_HUMAN neXtProt NX_Q9H936 http://www.nextprot.org/db/entry/NX_Q9H936 octanol swissprot:GHC1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:GHC1_HUMAN pepcoil swissprot:GHC1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:GHC1_HUMAN pepdigest swissprot:GHC1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:GHC1_HUMAN pepinfo swissprot:GHC1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:GHC1_HUMAN pepnet swissprot:GHC1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:GHC1_HUMAN pepstats swissprot:GHC1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:GHC1_HUMAN pepwheel swissprot:GHC1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:GHC1_HUMAN pepwindow swissprot:GHC1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:GHC1_HUMAN sigcleave swissprot:GHC1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:GHC1_HUMAN ## Database ID URL or Descriptions # AltName KCNF1_HUMAN Voltage-gated potassium channel subunit Kv5.1 # AltName KCNF1_HUMAN kH1 # BioGrid 109956 4 # DOMAIN KCNF1_HUMAN The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position. # Ensembl ENST00000295082 ENSP00000295082; ENSG00000162975 # FUNCTION KCNF1_HUMAN Putative voltage-gated potassium channel. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0008076 voltage-gated potassium channel complex; IEA:InterPro. # GO_component GO:0016021 integral component of membrane; IBA:GO_Central. # GO_function GO:0005251 delayed rectifier potassium channel activity; IBA:GO_Central. # GO_function GO:0005267 potassium channel activity; TAS:ProtInc. # GO_process GO:0006813 potassium ion transport; TAS:ProtInc. # GO_process GO:0051260 protein homooligomerization; IEA:InterPro. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # Gene3D 1.20.120.350 -; 1. # Genevisible Q9H3M0 HS # HGNC HGNC:6246 KCNF1 # InterPro IPR003131 T1-type_BTB # InterPro IPR003968 K_chnl_volt-dep_Kv # InterPro IPR003971 K_chnl_volt-dep_Kv9 # InterPro IPR005821 Ion_trans_dom # InterPro IPR011333 SKP1/BTB/POZ # InterPro IPR027359 Channel_four-helix_dom # InterPro IPR028325 VG_K_chnl # KEGG_Brite ko04040 Ion channels # MIM 603787 gene # Organism KCNF1_HUMAN Homo sapiens (Human) # PANTHER PTHR11537 PTHR11537 # PIR JC5919 JC5919 # PRINTS PR00169 KCHANNEL # PRINTS PR01491 KVCHANNEL # PRINTS PR01494 KV9CHANNEL # Pfam PF00520 Ion_trans # Pfam PF02214 BTB_2 # Proteomes UP000005640 Chromosome 2 # Reactome R-HSA-1296072 Voltage gated Potassium channels # RecName KCNF1_HUMAN Potassium voltage-gated channel subfamily F member 1 # RefSeq NP_002227 NM_002236.4 # SIMILARITY Belongs to the potassium channel family. F (TC 1.A.1.2) subfamily. Kv5.1/KCNF1 sub-subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION KCNF1_HUMAN Membrane; Multi-pass membrane protein. # SUBUNIT Heteromultimer with KCNG3, KCNG4 and KCNV2. Interacts with DLG1. {ECO:0000269|PubMed 12445884}. # SUPFAM SSF54695 SSF54695 # TCDB 1.A.1.2.18 the voltage-gated ion channel (vic) superfamily # TISSUE SPECIFICITY KCNF1_HUMAN Detected in heart, brain, liver, skeletal muscle, kidney and pancreas. # UCSC uc002rax human # eggNOG COG1226 LUCA # eggNOG KOG3713 Eukaryota BLAST swissprot:KCNF1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCNF1_HUMAN BioCyc ZFISH:ENSG00000162975-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000162975-MONOMER COXPRESdb 3754 http://coxpresdb.jp/data/gene/3754.shtml CleanEx HS_KCNF1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNF1 DOI 10.1006/bbrc.1997.7830 http://dx.doi.org/10.1006/bbrc.1997.7830 DOI 10.1016/S0008-6363(02)00602-8 http://dx.doi.org/10.1016/S0008-6363(02)00602-8 DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AC019041 http://www.ebi.ac.uk/ena/data/view/AC019041 EMBL AF029780 http://www.ebi.ac.uk/ena/data/view/AF029780 EMBL AF033382 http://www.ebi.ac.uk/ena/data/view/AF033382 EMBL BC026110 http://www.ebi.ac.uk/ena/data/view/BC026110 EMBL CH471053 http://www.ebi.ac.uk/ena/data/view/CH471053 Ensembl ENST00000295082 http://www.ensembl.org/id/ENST00000295082 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0008076 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008076 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005251 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005251 GO_function GO:0005267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005267 GO_process GO:0006813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006813 GO_process GO:0051260 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051260 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 Gene3D 1.20.120.350 http://www.cathdb.info/version/latest/superfamily/1.20.120.350 GeneCards KCNF1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNF1 GeneID 3754 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=3754 GeneTree ENSGT00760000118981 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118981 HGNC HGNC:6246 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6246 HOGENOM HOG000231016 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231016&db=HOGENOM6 HOVERGEN HBG052230 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052230&db=HOVERGEN HPA CAB004678 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB004678 HPA HPA014738 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA014738 InParanoid Q9H3M0 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9H3M0 IntAct Q9H3M0 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9H3M0* InterPro IPR003131 http://www.ebi.ac.uk/interpro/entry/IPR003131 InterPro IPR003968 http://www.ebi.ac.uk/interpro/entry/IPR003968 InterPro IPR003971 http://www.ebi.ac.uk/interpro/entry/IPR003971 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR011333 http://www.ebi.ac.uk/interpro/entry/IPR011333 InterPro IPR027359 http://www.ebi.ac.uk/interpro/entry/IPR027359 InterPro IPR028325 http://www.ebi.ac.uk/interpro/entry/IPR028325 Jabion 3754 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=3754 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:3754 http://www.genome.jp/dbget-bin/www_bget?hsa:3754 KEGG_Orthology KO:K04899 http://www.genome.jp/dbget-bin/www_bget?KO:K04899 MIM 603787 http://www.ncbi.nlm.nih.gov/omim/603787 OMA NEMEFWK http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=NEMEFWK OrthoDB EOG091G0FP3 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0FP3 PANTHER PTHR11537 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11537 PRINTS PR00169 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00169 PRINTS PR01491 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01491 PRINTS PR01494 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01494 PSORT swissprot:KCNF1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCNF1_HUMAN PSORT-B swissprot:KCNF1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCNF1_HUMAN PSORT2 swissprot:KCNF1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCNF1_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF02214 http://pfam.xfam.org/family/PF02214 PharmGKB PA30033 http://www.pharmgkb.org/do/serve?objId=PA30033&objCls=Gene Phobius swissprot:KCNF1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCNF1_HUMAN PhylomeDB Q9H3M0 http://phylomedb.org/?seqid=Q9H3M0 ProteinModelPortal Q9H3M0 http://www.proteinmodelportal.org/query/uniprot/Q9H3M0 PubMed 12445884 http://www.ncbi.nlm.nih.gov/pubmed/12445884 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 PubMed 9434767 http://www.ncbi.nlm.nih.gov/pubmed/9434767 Reactome R-HSA-1296072 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1296072 RefSeq NP_002227 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_002227 SMR Q9H3M0 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9H3M0 STRING 9606.ENSP00000295082 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000295082&targetmode=cogs SUPFAM SSF54695 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF54695 TCDB 1.A.1.2.18 http://www.tcdb.org/search/result.php?tc=1.A.1.2.18 UCSC uc002rax http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002rax&org=rat UniGene Hs.23735 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.23735 UniProtKB KCNF1_HUMAN http://www.uniprot.org/uniprot/KCNF1_HUMAN UniProtKB-AC Q9H3M0 http://www.uniprot.org/uniprot/Q9H3M0 charge swissprot:KCNF1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCNF1_HUMAN eggNOG COG1226 http://eggnogapi.embl.de/nog_data/html/tree/COG1226 eggNOG KOG3713 http://eggnogapi.embl.de/nog_data/html/tree/KOG3713 epestfind swissprot:KCNF1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCNF1_HUMAN garnier swissprot:KCNF1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCNF1_HUMAN helixturnhelix swissprot:KCNF1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCNF1_HUMAN hmoment swissprot:KCNF1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCNF1_HUMAN iep swissprot:KCNF1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCNF1_HUMAN inforesidue swissprot:KCNF1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCNF1_HUMAN neXtProt NX_Q9H3M0 http://www.nextprot.org/db/entry/NX_Q9H3M0 octanol swissprot:KCNF1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCNF1_HUMAN pepcoil swissprot:KCNF1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCNF1_HUMAN pepdigest swissprot:KCNF1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCNF1_HUMAN pepinfo swissprot:KCNF1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCNF1_HUMAN pepnet swissprot:KCNF1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCNF1_HUMAN pepstats swissprot:KCNF1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCNF1_HUMAN pepwheel swissprot:KCNF1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCNF1_HUMAN pepwindow swissprot:KCNF1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCNF1_HUMAN sigcleave swissprot:KCNF1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCNF1_HUMAN ## Database ID URL or Descriptions # AltName S39A5_HUMAN Solute carrier family 39 member 5 # AltName S39A5_HUMAN Zrt- and Irt-like protein 5 # BioGrid 129541 45 # CAUTION It is uncertain whether Met-1 or Met-2 is the initiator. {ECO 0000305}. # DISEASE S39A5_HUMAN Myopia 24, autosomal dominant (MYP24) [MIM 615946] A refractive error of the eye, in which parallel rays from a distant object come to focus in front of the retina, vision being better for near objects than for far. {ECO 0000269|PubMed 24891338, ECO 0000269|PubMed 25525168}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000266980 ENSP00000266980; ENSG00000139540 # Ensembl ENST00000454355 ENSP00000405360; ENSG00000139540 # ExpressionAtlas Q6ZMH5 baseline and differential # FUNCTION S39A5_HUMAN May play a role in polarized cells by carrying out serosal-to-mucosal zinc transport. Plays a role in eye development. Could regulate the BMP/TGF-beta (bone morphogenetic protein/transforming growth factor-beta) signaling pathway and modulates extracellular matrix (ECM) proteins of the sclera (PubMed 24891338). Seems to play a central role in controlling organismal zinc status (By similarity). {ECO 0000250|UniProtKB Q9D856, ECO 0000269|PubMed 24891338}. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0016323 basolateral plasma membrane; IEA:UniProtKB-SubCell. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0005385 zinc ion transmembrane transporter activity; IBA:GO_Central. # GO_process GO:0001654 eye development; IMP:UniProtKB. # GO_process GO:0006882 cellular zinc ion homeostasis; IBA:GO_Central. # GO_process GO:0030509 BMP signaling pathway; IMP:UniProtKB. # GO_process GO:0034224 cellular response to zinc ion starvation; IEA:Ensembl. # GO_process GO:0048026 positive regulation of mRNA splicing, via spliceosome; IEA:Ensembl. # GO_process GO:0061351 neural precursor cell proliferation; ISS:UniProtKB. # GO_process GO:0070315 G1 to G0 transition involved in cell differentiation; ISS:UniProtKB. # GO_process GO:0071578 zinc II ion transmembrane import; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0043226 organelle # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0008283 cell proliferation # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0055085 transmembrane transport # Genevisible Q6ZMH5 HS # HGNC HGNC:20502 SLC39A5 # InterPro IPR003689 ZIP # KEGG_Brite ko02001 Solute carrier family # MIM 608730 gene # MIM 615946 phenotype # Organism S39A5_HUMAN Homo sapiens (Human) # PTM S39A5_HUMAN Glycosylated. {ECO 0000250}. # Pfam PF02535 Zip # Proteomes UP000005640 Chromosome 12 # Reactome R-HSA-442380 Zinc influx into cells by the SLC39 gene family # RecName S39A5_HUMAN Zinc transporter ZIP5 # RefSeq NP_001128667 NM_001135195.1 # RefSeq NP_775867 NM_173596.2 # RefSeq XP_005268860 XM_005268803.1 # RefSeq XP_011536500 XM_011538198.1 # RefSeq XP_011536501 XM_011538199.1 # RefSeq XP_011536502 XM_011538200.1 # RefSeq XP_011536503 XM_011538201.1 # SEQUENCE CAUTION Sequence=AAH27884.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAG36005.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the ZIP transporter (TC 2.A.5) family. {ECO 0000305}. # SUBCELLULAR LOCATION S39A5_HUMAN Basolateral cell membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. # TCDB 2.A.5.4.10 the zinc (zn(2+))-iron (fe(2+)) permease (zip) family # TISSUE SPECIFICITY Expressed in liver, kidney, pancreas, small intestine, colon, spleen, fetal liver and fetal kidney. {ECO:0000269|PubMed 15322118}. # UCSC uc010sqj human # eggNOG COG0428 LUCA # eggNOG KOG2693 Eukaryota BLAST swissprot:S39A5_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S39A5_HUMAN COXPRESdb 283375 http://coxpresdb.jp/data/gene/283375.shtml CleanEx HS_SLC39A5 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC39A5 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.M408361200 http://dx.doi.org/10.1074/jbc.M408361200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1136/jmedgenet-2014-102351 http://dx.doi.org/10.1136/jmedgenet-2014-102351 DOI 10.1167/iovs.14-14850 http://dx.doi.org/10.1167/iovs.14-14850 EMBL AK172768 http://www.ebi.ac.uk/ena/data/view/AK172768 EMBL AK313188 http://www.ebi.ac.uk/ena/data/view/AK313188 EMBL BC027884 http://www.ebi.ac.uk/ena/data/view/BC027884 Ensembl ENST00000266980 http://www.ensembl.org/id/ENST00000266980 Ensembl ENST00000454355 http://www.ensembl.org/id/ENST00000454355 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016323 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0005385 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005385 GO_process GO:0001654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001654 GO_process GO:0006882 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006882 GO_process GO:0030509 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030509 GO_process GO:0034224 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034224 GO_process GO:0048026 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048026 GO_process GO:0061351 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061351 GO_process GO:0070315 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070315 GO_process GO:0071578 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071578 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0008283 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008283 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC39A5 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC39A5 GeneID 283375 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=283375 GeneTree ENSGT00760000119115 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119115 HGNC HGNC:20502 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:20502 HOGENOM HOG000132930 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000132930&db=HOGENOM6 HOVERGEN HBG084379 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG084379&db=HOVERGEN HPA HPA018423 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA018423 InParanoid Q6ZMH5 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q6ZMH5 InterPro IPR003689 http://www.ebi.ac.uk/interpro/entry/IPR003689 Jabion 283375 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=283375 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:283375 http://www.genome.jp/dbget-bin/www_bget?hsa:283375 KEGG_Orthology KO:K14711 http://www.genome.jp/dbget-bin/www_bget?KO:K14711 MIM 608730 http://www.ncbi.nlm.nih.gov/omim/608730 MIM 615946 http://www.ncbi.nlm.nih.gov/omim/615946 OMA ENGSGMA http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=ENGSGMA OrthoDB EOG091G0G6G http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0G6G PSORT swissprot:S39A5_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S39A5_HUMAN PSORT-B swissprot:S39A5_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S39A5_HUMAN PSORT2 swissprot:S39A5_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S39A5_HUMAN Pfam PF02535 http://pfam.xfam.org/family/PF02535 PharmGKB PA134872687 http://www.pharmgkb.org/do/serve?objId=PA134872687&objCls=Gene Phobius swissprot:S39A5_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S39A5_HUMAN PhylomeDB Q6ZMH5 http://phylomedb.org/?seqid=Q6ZMH5 ProteinModelPortal Q6ZMH5 http://www.proteinmodelportal.org/query/uniprot/Q6ZMH5 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15322118 http://www.ncbi.nlm.nih.gov/pubmed/15322118 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 24891338 http://www.ncbi.nlm.nih.gov/pubmed/24891338 PubMed 25525168 http://www.ncbi.nlm.nih.gov/pubmed/25525168 Reactome R-HSA-442380 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-442380 RefSeq NP_001128667 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001128667 RefSeq NP_775867 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_775867 RefSeq XP_005268860 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005268860 RefSeq XP_011536500 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011536500 RefSeq XP_011536501 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011536501 RefSeq XP_011536502 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011536502 RefSeq XP_011536503 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011536503 SMR Q6ZMH5 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q6ZMH5 STRING 9606.ENSP00000266980 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000266980&targetmode=cogs TCDB 2.A.5.4.10 http://www.tcdb.org/search/result.php?tc=2.A.5.4.10 UCSC uc010sqj http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc010sqj&org=rat UniGene Hs.591018 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.591018 UniProtKB S39A5_HUMAN http://www.uniprot.org/uniprot/S39A5_HUMAN UniProtKB-AC Q6ZMH5 http://www.uniprot.org/uniprot/Q6ZMH5 charge swissprot:S39A5_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S39A5_HUMAN eggNOG COG0428 http://eggnogapi.embl.de/nog_data/html/tree/COG0428 eggNOG KOG2693 http://eggnogapi.embl.de/nog_data/html/tree/KOG2693 epestfind swissprot:S39A5_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S39A5_HUMAN garnier swissprot:S39A5_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S39A5_HUMAN helixturnhelix swissprot:S39A5_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S39A5_HUMAN hmoment swissprot:S39A5_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S39A5_HUMAN iep swissprot:S39A5_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S39A5_HUMAN inforesidue swissprot:S39A5_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S39A5_HUMAN neXtProt NX_Q6ZMH5 http://www.nextprot.org/db/entry/NX_Q6ZMH5 octanol swissprot:S39A5_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S39A5_HUMAN pepcoil swissprot:S39A5_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S39A5_HUMAN pepdigest swissprot:S39A5_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S39A5_HUMAN pepinfo swissprot:S39A5_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S39A5_HUMAN pepnet swissprot:S39A5_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S39A5_HUMAN pepstats swissprot:S39A5_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S39A5_HUMAN pepwheel swissprot:S39A5_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S39A5_HUMAN pepwindow swissprot:S39A5_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S39A5_HUMAN sigcleave swissprot:S39A5_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S39A5_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS NCS1_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P62166-1; Sequence=Displayed; Name=2; IsoId=P62166-2; Sequence=VSP_046312; Note=No experimental confirmation available.; # AltName NCS1_HUMAN Frequenin homolog # AltName NCS1_HUMAN Frequenin-like protein # AltName NCS1_HUMAN Frequenin-like ubiquitous protein # BioGrid 116985 29 # CCDS CCDS6932 -. [P62166-1] # CCDS CCDS78448 -. [P62166-2] # CDD cd00051 EFh; 2 # ChiTaRS NCS1 human # Ensembl ENST00000372398 ENSP00000361475; ENSG00000107130. [P62166-1] # Ensembl ENST00000630865 ENSP00000486695; ENSG00000107130. [P62166-2] # ExpressionAtlas P62166 baseline and differential # FUNCTION NCS1_HUMAN Neuronal calcium sensor, regulator of G protein-coupled receptor phosphorylation in a calcium dependent manner. Directly regulates GRK1 (RHOK), but not GRK2 to GRK5. Can substitute for calmodulin (By similarity). Stimulates PI4KB kinase activity (By similarity). Involved in long-term synaptic plasticity through its interaction with PICK1 (By similarity). May also play a role in neuron differentiation through inhibition of the activity of N- type voltage-gated calcium channel (By similarity). {ECO 0000250}. # GO_component GO:0005737 cytoplasm; IDA:UniProtKB. # GO_component GO:0005794 Golgi apparatus; IEA:UniProtKB-SubCell. # GO_component GO:0005829 cytosol; IEA:Ensembl. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0014069 postsynaptic density; IEA:UniProtKB-SubCell. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0030424 axon; IEA:Ensembl. # GO_component GO:0030425 dendrite; IEA:Ensembl. # GO_component GO:0031045 dense core granule; IEA:Ensembl. # GO_component GO:0043231 intracellular membrane-bounded organelle; IDA:HPA. # GO_component GO:0045211 postsynaptic membrane; IEA:UniProtKB-KW. # GO_component GO:0048471 perinuclear region of cytoplasm; IEA:UniProtKB-SubCell. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0000287 magnesium ion binding; IEA:Ensembl. # GO_function GO:0005245 voltage-gated calcium channel activity; ISS:UniProtKB. # GO_function GO:0005509 calcium ion binding; TAS:UniProtKB. # GO_process GO:0010975 regulation of neuron projection development; ISS:UniProtKB. # GO_process GO:0045921 positive regulation of exocytosis; IEA:Ensembl. # GO_process GO:0048015 phosphatidylinositol-mediated signaling; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005794 Golgi apparatus # GOslim_component GO:0005829 cytosol # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0031410 cytoplasmic vesicle # GOslim_component GO:0043226 organelle # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # Gene3D 1.10.238.10 -; 3. # Genevisible P62166 HS # HGNC HGNC:3953 NCS1 # INTERACTION NCS1_HUMAN Q4ZH49 DTX2; NbExp=5; IntAct=EBI-746987, EBI-10192429; Q86UW9 DTX2; NbExp=7; IntAct=EBI-746987, EBI-740376; P41271 NBL1; NbExp=3; IntAct=EBI-746987, EBI-10208650; # IntAct P62166 7 # InterPro IPR002048 EF_hand_dom # InterPro IPR011992 EF-hand-dom_pair # InterPro IPR018247 EF_Hand_1_Ca_BS # InterPro IPR028846 Recoverin # MIM 603315 gene # MISCELLANEOUS NCS1_HUMAN Binds 3 calcium ions via the second, third and fourth EF-hand. # Organism NCS1_HUMAN Homo sapiens (Human) # PANTHER PTHR23055 PTHR23055 # PDB 1G8I X-ray; 1.90 A; A/B=1-190 # PDB 2LCP NMR; -; A=1-190 # PDB 4GUK X-ray; 1.75 A; A/B/C/D=6-188 # PROSITE PS00018 EF_HAND_1; 3 # PROSITE PS50222 EF_HAND_2; 3 # Pfam PF00036 EF-hand_1 # Pfam PF13499 EF-hand_7 # Proteomes UP000005640 Chromosome 9 # RecName NCS1_HUMAN Neuronal calcium sensor 1 # RefSeq NP_001122298 NM_001128826.1. [P62166-2] # RefSeq NP_055101 NM_014286.3. [P62166-1] # SIMILARITY Belongs to the recoverin family. {ECO 0000305}. # SIMILARITY Contains 4 EF-hand domains. {ECO:0000255|PROSITE- ProRule PRU00448}. # SMART SM00054 EFh; 3 # SUBCELLULAR LOCATION NCS1_HUMAN Golgi apparatus {ECO 0000269|PubMed 17555535}. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO 0000305}. Cytoplasm, perinuclear region {ECO 0000269|PubMed 11092894, ECO 0000269|PubMed 17555535}. Cytoplasm {ECO 0000250|UniProtKB P62168}. Cell membrane {ECO 0000269|PubMed 17555535}; Peripheral membrane protein. Membrane {ECO 0000250|UniProtKB P62168}; Lipid-anchor {ECO 0000305}. Note=Associated with Golgi stacks. Post-synaptic densities of dendrites, and in the pre-synaptic nerve terminal at neuromuscular junctions. {ECO 0000305, ECO 0000305|PubMed 17555535}. # SUBUNIT NCS1_HUMAN Interacts with KCND2. Interacts in a calcium-independent manner with PI4KB. This binding competes with CALN2/CABP7 binding to PI4KB (By similarity). Interacts with ARF1, ARF3, ARF5 and ARF6. Interacts in a calcium-dependent manner with PICK1 (via AH domain) (By similarity). Interacts with IL1RAPL1. {ECO 0000250, ECO 0000269|PubMed 11606724, ECO 0000269|PubMed 12783849, ECO 0000269|PubMed 17555535}. # SUPFAM SSF47473 SSF47473 # TopDownProteomics P62166-1 -. [P62166-1] # UCSC uc004bzi human. [P62166-1] # eggNOG COG5126 LUCA # eggNOG KOG0044 Eukaryota BLAST swissprot:NCS1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:NCS1_HUMAN BioCyc ZFISH:ENSG00000107130-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000107130-MONOMER COXPRESdb 23413 http://coxpresdb.jp/data/gene/23413.shtml CleanEx HS_FREQ http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_FREQ DOI 10.1038/nature02465 http://dx.doi.org/10.1038/nature02465 DOI 10.1038/ncomms5919 http://dx.doi.org/10.1038/ncomms5919 DOI 10.1073/pnas.221168498 http://dx.doi.org/10.1073/pnas.221168498 DOI 10.1074/jbc.M009373200 http://dx.doi.org/10.1074/jbc.M009373200 DOI 10.1093/hmg/ddg147 http://dx.doi.org/10.1093/hmg/ddg147 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1600-0854.2007.00594.x http://dx.doi.org/10.1111/j.1600-0854.2007.00594.x DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AF134479 http://www.ebi.ac.uk/ena/data/view/AF134479 EMBL AF186409 http://www.ebi.ac.uk/ena/data/view/AF186409 EMBL AL360004 http://www.ebi.ac.uk/ena/data/view/AL360004 EMBL BC004856 http://www.ebi.ac.uk/ena/data/view/BC004856 EMBL BQ880305 http://www.ebi.ac.uk/ena/data/view/BQ880305 EMBL X84048 http://www.ebi.ac.uk/ena/data/view/X84048 Ensembl ENST00000372398 http://www.ensembl.org/id/ENST00000372398 Ensembl ENST00000630865 http://www.ensembl.org/id/ENST00000630865 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0014069 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014069 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0030424 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030424 GO_component GO:0030425 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030425 GO_component GO:0031045 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031045 GO_component GO:0043231 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043231 GO_component GO:0045211 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045211 GO_component GO:0048471 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048471 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0000287 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000287 GO_function GO:0005245 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005245 GO_function GO:0005509 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005509 GO_process GO:0010975 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010975 GO_process GO:0045921 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045921 GO_process GO:0048015 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048015 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0031410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 Gene3D 1.10.238.10 http://www.cathdb.info/version/latest/superfamily/1.10.238.10 GeneCards NCS1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=NCS1 GeneID 23413 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=23413 GeneTree ENSGT00760000118820 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118820 HGNC HGNC:3953 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:3953 HOGENOM HOG000233019 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000233019&db=HOGENOM6 HOVERGEN HBG108179 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG108179&db=HOVERGEN HPA CAB018587 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB018587 HPA HPA019713 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA019713 InParanoid P62166 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P62166 IntAct P62166 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P62166* InterPro IPR002048 http://www.ebi.ac.uk/interpro/entry/IPR002048 InterPro IPR011992 http://www.ebi.ac.uk/interpro/entry/IPR011992 InterPro IPR018247 http://www.ebi.ac.uk/interpro/entry/IPR018247 InterPro IPR028846 http://www.ebi.ac.uk/interpro/entry/IPR028846 Jabion 23413 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=23413 KEGG_Gene hsa:23413 http://www.genome.jp/dbget-bin/www_bget?hsa:23413 MIM 603315 http://www.ncbi.nlm.nih.gov/omim/603315 MINT MINT-1436213 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1436213 OMA FHEFIRA http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=FHEFIRA OrthoDB EOG091G11T4 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G11T4 PANTHER PTHR23055 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR23055 PDB 1G8I http://www.ebi.ac.uk/pdbe-srv/view/entry/1G8I PDB 2LCP http://www.ebi.ac.uk/pdbe-srv/view/entry/2LCP PDB 4GUK http://www.ebi.ac.uk/pdbe-srv/view/entry/4GUK PDBsum 1G8I http://www.ebi.ac.uk/pdbsum/1G8I PDBsum 2LCP http://www.ebi.ac.uk/pdbsum/2LCP PDBsum 4GUK http://www.ebi.ac.uk/pdbsum/4GUK PROSITE PS00018 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00018 PROSITE PS50222 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50222 PSORT swissprot:NCS1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:NCS1_HUMAN PSORT-B swissprot:NCS1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:NCS1_HUMAN PSORT2 swissprot:NCS1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:NCS1_HUMAN Pfam PF00036 http://pfam.xfam.org/family/PF00036 Pfam PF13499 http://pfam.xfam.org/family/PF13499 PharmGKB PA28371 http://www.pharmgkb.org/do/serve?objId=PA28371&objCls=Gene Phobius swissprot:NCS1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:NCS1_HUMAN PhylomeDB P62166 http://phylomedb.org/?seqid=P62166 ProteinModelPortal P62166 http://www.proteinmodelportal.org/query/uniprot/P62166 PubMed 11092894 http://www.ncbi.nlm.nih.gov/pubmed/11092894 PubMed 11606724 http://www.ncbi.nlm.nih.gov/pubmed/11606724 PubMed 12783849 http://www.ncbi.nlm.nih.gov/pubmed/12783849 PubMed 15164053 http://www.ncbi.nlm.nih.gov/pubmed/15164053 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 17555535 http://www.ncbi.nlm.nih.gov/pubmed/17555535 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 25255805 http://www.ncbi.nlm.nih.gov/pubmed/25255805 RefSeq NP_001122298 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001122298 RefSeq NP_055101 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_055101 SMART SM00054 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00054 SMR P62166 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P62166 STRING 9606.ENSP00000361475 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000361475&targetmode=cogs SUPFAM SSF47473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF47473 UCSC uc004bzi http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc004bzi&org=rat UniGene Hs.642946 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.642946 UniGene Hs.714951 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.714951 UniProtKB NCS1_HUMAN http://www.uniprot.org/uniprot/NCS1_HUMAN UniProtKB-AC P62166 http://www.uniprot.org/uniprot/P62166 charge swissprot:NCS1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:NCS1_HUMAN eggNOG COG5126 http://eggnogapi.embl.de/nog_data/html/tree/COG5126 eggNOG KOG0044 http://eggnogapi.embl.de/nog_data/html/tree/KOG0044 epestfind swissprot:NCS1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:NCS1_HUMAN garnier swissprot:NCS1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:NCS1_HUMAN helixturnhelix swissprot:NCS1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:NCS1_HUMAN hmoment swissprot:NCS1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:NCS1_HUMAN iep swissprot:NCS1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:NCS1_HUMAN inforesidue swissprot:NCS1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:NCS1_HUMAN neXtProt NX_P62166 http://www.nextprot.org/db/entry/NX_P62166 octanol swissprot:NCS1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:NCS1_HUMAN pepcoil swissprot:NCS1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:NCS1_HUMAN pepdigest swissprot:NCS1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:NCS1_HUMAN pepinfo swissprot:NCS1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:NCS1_HUMAN pepnet swissprot:NCS1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:NCS1_HUMAN pepstats swissprot:NCS1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:NCS1_HUMAN pepwheel swissprot:NCS1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:NCS1_HUMAN pepwindow swissprot:NCS1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:NCS1_HUMAN sigcleave swissprot:NCS1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:NCS1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS RASA3_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q14644-1; Sequence=Displayed; Name=2; IsoId=Q14644-2; Sequence=VSP_056141; Note=No experimental confirmation available.; # AltName RASA3_HUMAN GAP1(IP4BP) # AltName RASA3_HUMAN Ins P4-binding protein # BioGrid 116497 8 # CCDS CCDS32016 -. [Q14644-1] # ChiTaRS RASA3 human # Ensembl ENST00000334062 ENSP00000335029; ENSG00000185989. [Q14644-1] # Ensembl ENST00000630618 ENSP00000486064; ENSG00000280477. [Q14644-1] # FUNCTION RASA3_HUMAN Inhibitory regulator of the Ras-cyclic AMP pathway. Binds inositol tetrakisphosphate (IP4) with high affinity. Might be a specific IP4 receptor. # GO_component GO:0005737 cytoplasm; IBA:GO_Central. # GO_component GO:0005829 cytosol; TAS:Reactome. # GO_component GO:0031235 intrinsic component of the cytoplasmic side of the plasma membrane; IDA:BHF-UCL. # GO_function GO:0005096 GTPase activator activity; TAS:ProtInc. # GO_function GO:0015278 calcium-release channel activity; IDA:BHF-UCL. # GO_function GO:0046872 metal ion binding; IEA:UniProtKB-KW. # GO_process GO:0000165 MAPK cascade; TAS:Reactome. # GO_process GO:0007165 signal transduction; TAS:ProtInc. # GO_process GO:0046580 negative regulation of Ras protein signal transduction; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005829 cytosol # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0030234 enzyme regulator activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006464 cellular protein modification process # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # Gene3D 1.10.506.10 -; 1. # Gene3D 2.30.29.30 -; 1. # Gene3D 2.60.40.150 -; 2. # Genevisible Q14644 HS # HGNC HGNC:20331 RASA3 # InterPro IPR000008 C2_dom # InterPro IPR001562 Znf_Btk_motif # InterPro IPR001849 PH_domain # InterPro IPR001936 RasGAP_dom # InterPro IPR008936 Rho_GTPase_activation_prot # InterPro IPR011993 PH_dom-like # InterPro IPR023152 RasGAP_CS # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Pathway ko04013 MAPK signaling pathway - fly # MIM 605182 gene # Organism RASA3_HUMAN Homo sapiens (Human) # PRINTS PR00402 TECBTKDOMAIN # PROSITE PS00509 RAS_GTPASE_ACTIV_1 # PROSITE PS50003 PH_DOMAIN # PROSITE PS50004 C2; 2 # PROSITE PS50018 RAS_GTPASE_ACTIV_2 # PROSITE PS51113 ZF_BTK # Pfam PF00168 C2; 2 # Pfam PF00169 PH # Pfam PF00616 RasGAP; 2 # Pfam PF00779 BTK # Proteomes UP000005640 Chromosome 13 # Reactome R-HSA-5658442 Regulation of RAS by GAPs # Reactome R-HSA-6802949 Signaling by RAS mutants # Reactome R-HSA-8849471 PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases # RecName RASA3_HUMAN Ras GTPase-activating protein 3 # RefSeq NP_001307750 NM_001320821.1 # RefSeq NP_001307751 NM_001320822.1. [Q14644-2] # RefSeq NP_031394 NM_007368.3. [Q14644-1] # RefSeq XP_011533143 XM_011534841.2. [Q14644-2] # RefSeq XP_011533144 XM_011534842.2. [Q14644-2] # SIMILARITY Contains 1 Btk-type zinc finger. {ECO:0000255|PROSITE- ProRule PRU00432}. # SIMILARITY Contains 1 PH domain. {ECO:0000255|PROSITE- ProRule PRU00145}. # SIMILARITY Contains 1 Ras-GAP domain. {ECO:0000255|PROSITE- ProRule PRU00167}. # SIMILARITY Contains 2 C2 domains. {ECO:0000255|PROSITE- ProRule PRU00041}. # SMART SM00107 BTK # SMART SM00233 PH # SMART SM00239 C2; 2 # SMART SM00323 RasGAP # SUBCELLULAR LOCATION RASA3_HUMAN Cell membrane. # SUPFAM SSF48350 SSF48350 # SUPFAM SSF49562 SSF49562; 2 # SUPFAM SSF50729 SSF50729 # UCSC uc001vui human. [Q14644-1] # eggNOG ENOG410Y128 LUCA # eggNOG KOG2059 Eukaryota BLAST swissprot:RASA3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:RASA3_HUMAN BioCyc ZFISH:G66-32254-MONOMER http://biocyc.org/getid?id=ZFISH:G66-32254-MONOMER COXPRESdb 22821 http://coxpresdb.jp/data/gene/22821.shtml CleanEx HS_RASA3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_RASA3 DOI 10.1016/S0960-9822(06)00423-4 http://dx.doi.org/10.1016/S0960-9822(06)00423-4 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/pr0704130 http://dx.doi.org/10.1021/pr0704130 DOI 10.1021/pr0705441 http://dx.doi.org/10.1021/pr0705441 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/376527a0 http://dx.doi.org/10.1038/376527a0 DOI 10.1038/nature02379 http://dx.doi.org/10.1038/nature02379 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/scisignal.2001570 http://dx.doi.org/10.1126/scisignal.2001570 EMBL AK289746 http://www.ebi.ac.uk/ena/data/view/AK289746 EMBL AK294913 http://www.ebi.ac.uk/ena/data/view/AK294913 EMBL AL161774 http://www.ebi.ac.uk/ena/data/view/AL161774 EMBL AL161774 http://www.ebi.ac.uk/ena/data/view/AL161774 EMBL BC038456 http://www.ebi.ac.uk/ena/data/view/BC038456 EMBL BC047242 http://www.ebi.ac.uk/ena/data/view/BC047242 EMBL BX537329 http://www.ebi.ac.uk/ena/data/view/BX537329 EMBL BX537329 http://www.ebi.ac.uk/ena/data/view/BX537329 EMBL X89399 http://www.ebi.ac.uk/ena/data/view/X89399 Ensembl ENST00000334062 http://www.ensembl.org/id/ENST00000334062 Ensembl ENST00000630618 http://www.ensembl.org/id/ENST00000630618 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0031235 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031235 GO_function GO:0005096 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005096 GO_function GO:0015278 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015278 GO_function GO:0046872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046872 GO_process GO:0000165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000165 GO_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GO_process GO:0046580 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046580 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0030234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030234 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006464 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006464 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 Gene3D 1.10.506.10 http://www.cathdb.info/version/latest/superfamily/1.10.506.10 Gene3D 2.30.29.30 http://www.cathdb.info/version/latest/superfamily/2.30.29.30 Gene3D 2.60.40.150 http://www.cathdb.info/version/latest/superfamily/2.60.40.150 GeneCards RASA3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=RASA3 GeneID 22821 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=22821 GeneTree ENSGT00760000119092 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119092 HGNC HGNC:20331 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:20331 HOGENOM HOG000007183 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000007183&db=HOGENOM6 HOVERGEN HBG055643 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG055643&db=HOVERGEN HPA HPA046759 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA046759 InParanoid Q14644 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q14644 IntAct Q14644 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q14644* InterPro IPR000008 http://www.ebi.ac.uk/interpro/entry/IPR000008 InterPro IPR001562 http://www.ebi.ac.uk/interpro/entry/IPR001562 InterPro IPR001849 http://www.ebi.ac.uk/interpro/entry/IPR001849 InterPro IPR001936 http://www.ebi.ac.uk/interpro/entry/IPR001936 InterPro IPR008936 http://www.ebi.ac.uk/interpro/entry/IPR008936 InterPro IPR011993 http://www.ebi.ac.uk/interpro/entry/IPR011993 InterPro IPR023152 http://www.ebi.ac.uk/interpro/entry/IPR023152 Jabion 22821 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=22821 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Gene hsa:22821 http://www.genome.jp/dbget-bin/www_bget?hsa:22821 KEGG_Orthology KO:K12380 http://www.genome.jp/dbget-bin/www_bget?KO:K12380 KEGG_Pathway ko04013 http://www.genome.jp/kegg-bin/show_pathway?ko04013 MIM 605182 http://www.ncbi.nlm.nih.gov/omim/605182 OMA SHKSCEI http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=SHKSCEI OrthoDB EOG091G04T8 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G04T8 PRINTS PR00402 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00402 PROSITE PS00509 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00509 PROSITE PS50003 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50003 PROSITE PS50004 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50004 PROSITE PS50018 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50018 PROSITE PS51113 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51113 PSORT swissprot:RASA3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:RASA3_HUMAN PSORT-B swissprot:RASA3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:RASA3_HUMAN PSORT2 swissprot:RASA3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:RASA3_HUMAN Pfam PF00168 http://pfam.xfam.org/family/PF00168 Pfam PF00169 http://pfam.xfam.org/family/PF00169 Pfam PF00616 http://pfam.xfam.org/family/PF00616 Pfam PF00779 http://pfam.xfam.org/family/PF00779 PharmGKB PA134905447 http://www.pharmgkb.org/do/serve?objId=PA134905447&objCls=Gene Phobius swissprot:RASA3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:RASA3_HUMAN PhylomeDB Q14644 http://phylomedb.org/?seqid=Q14644 ProteinModelPortal Q14644 http://www.proteinmodelportal.org/query/uniprot/Q14644 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15057823 http://www.ncbi.nlm.nih.gov/pubmed/15057823 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 18088087 http://www.ncbi.nlm.nih.gov/pubmed/18088087 PubMed 18220336 http://www.ncbi.nlm.nih.gov/pubmed/18220336 PubMed 21406692 http://www.ncbi.nlm.nih.gov/pubmed/21406692 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 7637787 http://www.ncbi.nlm.nih.gov/pubmed/7637787 PubMed 9382842 http://www.ncbi.nlm.nih.gov/pubmed/9382842 Reactome R-HSA-5658442 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5658442 Reactome R-HSA-6802949 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6802949 Reactome R-HSA-8849471 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-8849471 RefSeq NP_001307750 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001307750 RefSeq NP_001307751 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001307751 RefSeq NP_031394 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_031394 RefSeq XP_011533143 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011533143 RefSeq XP_011533144 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011533144 SMART SM00107 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00107 SMART SM00233 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00233 SMART SM00239 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00239 SMART SM00323 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00323 SMR Q14644 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q14644 STRING 9606.ENSP00000335029 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000335029&targetmode=cogs SUPFAM SSF48350 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48350 SUPFAM SSF49562 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF49562 SUPFAM SSF50729 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF50729 UCSC uc001vui http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001vui&org=rat UniGene Hs.593075 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.593075 UniProtKB RASA3_HUMAN http://www.uniprot.org/uniprot/RASA3_HUMAN UniProtKB-AC Q14644 http://www.uniprot.org/uniprot/Q14644 charge swissprot:RASA3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:RASA3_HUMAN eggNOG ENOG410Y128 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410Y128 eggNOG KOG2059 http://eggnogapi.embl.de/nog_data/html/tree/KOG2059 epestfind swissprot:RASA3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:RASA3_HUMAN garnier swissprot:RASA3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:RASA3_HUMAN helixturnhelix swissprot:RASA3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:RASA3_HUMAN hmoment swissprot:RASA3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:RASA3_HUMAN iep swissprot:RASA3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:RASA3_HUMAN inforesidue swissprot:RASA3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:RASA3_HUMAN neXtProt NX_Q14644 http://www.nextprot.org/db/entry/NX_Q14644 octanol swissprot:RASA3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:RASA3_HUMAN pepcoil swissprot:RASA3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:RASA3_HUMAN pepdigest swissprot:RASA3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:RASA3_HUMAN pepinfo swissprot:RASA3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:RASA3_HUMAN pepnet swissprot:RASA3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:RASA3_HUMAN pepstats swissprot:RASA3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:RASA3_HUMAN pepwheel swissprot:RASA3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:RASA3_HUMAN pepwindow swissprot:RASA3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:RASA3_HUMAN sigcleave swissprot:RASA3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:RASA3_HUMAN ## Database ID URL or Descriptions # AltName S38A8_HUMAN Solute carrier family 38 member 8 # DISEASE S38A8_HUMAN Foveal hypoplasia 2 (FVH2) [MIM 609218] An isolated form of foveal hypoplasia, a developmental defect of the eye defined as the lack of foveal depression with continuity of all neurosensory retinal layers in the presumed foveal area. Clinical features include absence of foveal pit on optical coherence tomography, absence of foveal hyperpigmentation, absence of foveal avascularity, absence of foveal and macular reflexes, decreased visual acuity, and nystagmus. Optic nerve misrouting and anterior segment dysgenesis are observed in some FVH2 patients. {ECO 0000269|PubMed 24045842, ECO 0000269|PubMed 24290379}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000299709 ENSP00000299709; ENSG00000166558 # ExpressionAtlas A6NNN8 baseline and differential # FUNCTION S38A8_HUMAN Putative sodium-dependent amino acid/proton antiporter. {ECO 0000250}. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0015171 amino acid transmembrane transporter activity; IBA:GO_Central. # GO_process GO:0003333 amino acid transmembrane transport; IBA:GO_Central. # GO_process GO:0006814 sodium ion transport; IEA:UniProtKB-KW. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0055085 transmembrane transport # HGNC HGNC:32434 SLC38A8 # InterPro IPR013057 AA_transpt_TM # KEGG_Brite ko02001 Solute carrier family # MIM 609218 phenotype # MIM 615585 gene # Organism S38A8_HUMAN Homo sapiens (Human) # Orphanet 397618 Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome # Pfam PF01490 Aa_trans # Proteomes UP000005640 Chromosome 16 # RecName S38A8_HUMAN Putative sodium-coupled neutral amino acid transporter 8 # RefSeq NP_001073911 NM_001080442.2 # RefSeq XP_016878435 XM_017022946.1 # SIMILARITY Belongs to the amino acid/polyamine transporter 2 family. {ECO 0000305}. # SUBCELLULAR LOCATION S38A8_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # TCDB 2.A.18.6.12 the amino acid/auxin permease (aaap) family # TISSUE SPECIFICITY Expressed in fetal and adult brain, and spinal cord. In the brain, it is localized in the cell body and axon of the majority of neuronal cells and in a subset of glial cells. Found throughout the neuronal retina, with higher expression levels in the inner and outer plexiform layers and the photoreceptor layer. Very weak expression is also present in the kidneys, thymus, and testes. {ECO:0000269|PubMed 24290379}. # UCSC uc002fhg human # eggNOG COG0814 LUCA # eggNOG KOG1305 Eukaryota BLAST swissprot:S38A8_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S38A8_HUMAN COXPRESdb 146167 http://coxpresdb.jp/data/gene/146167.shtml CleanEx HS_SLC38A8 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC38A8 DOI 10.1016/j.ajhg.2013.11.002 http://dx.doi.org/10.1016/j.ajhg.2013.11.002 DOI 10.1038/ejhg.2013.212 http://dx.doi.org/10.1038/ejhg.2013.212 DOI 10.1038/nature03187 http://dx.doi.org/10.1038/nature03187 EMBL AC040169 http://www.ebi.ac.uk/ena/data/view/AC040169 Ensembl ENST00000299709 http://www.ensembl.org/id/ENST00000299709 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0015171 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015171 GO_process GO:0003333 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003333 GO_process GO:0006814 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006814 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC38A8 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC38A8 GeneID 146167 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=146167 GeneTree ENSGT00710000106751 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00710000106751 HGNC HGNC:32434 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:32434 HOGENOM HOG000008036 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000008036&db=HOGENOM6 HOVERGEN HBG055999 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG055999&db=HOVERGEN InParanoid A6NNN8 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=A6NNN8 InterPro IPR013057 http://www.ebi.ac.uk/interpro/entry/IPR013057 Jabion 146167 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=146167 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:146167 http://www.genome.jp/dbget-bin/www_bget?hsa:146167 KEGG_Orthology KO:K14994 http://www.genome.jp/dbget-bin/www_bget?KO:K14994 MIM 609218 http://www.ncbi.nlm.nih.gov/omim/609218 MIM 615585 http://www.ncbi.nlm.nih.gov/omim/615585 OMA PRVKCCL http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=PRVKCCL Orphanet 397618 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=397618 OrthoDB EOG091G08A4 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G08A4 PSORT swissprot:S38A8_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S38A8_HUMAN PSORT-B swissprot:S38A8_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S38A8_HUMAN PSORT2 swissprot:S38A8_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S38A8_HUMAN Pfam PF01490 http://pfam.xfam.org/family/PF01490 PharmGKB PA162403773 http://www.pharmgkb.org/do/serve?objId=PA162403773&objCls=Gene Phobius swissprot:S38A8_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S38A8_HUMAN PhylomeDB A6NNN8 http://phylomedb.org/?seqid=A6NNN8 ProteinModelPortal A6NNN8 http://www.proteinmodelportal.org/query/uniprot/A6NNN8 PubMed 15616553 http://www.ncbi.nlm.nih.gov/pubmed/15616553 PubMed 24045842 http://www.ncbi.nlm.nih.gov/pubmed/24045842 PubMed 24290379 http://www.ncbi.nlm.nih.gov/pubmed/24290379 RefSeq NP_001073911 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001073911 RefSeq XP_016878435 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016878435 STRING 9606.ENSP00000299709 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000299709&targetmode=cogs TCDB 2.A.18.6.12 http://www.tcdb.org/search/result.php?tc=2.A.18.6.12 UCSC uc002fhg http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002fhg&org=rat UniProtKB S38A8_HUMAN http://www.uniprot.org/uniprot/S38A8_HUMAN UniProtKB-AC A6NNN8 http://www.uniprot.org/uniprot/A6NNN8 charge swissprot:S38A8_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S38A8_HUMAN eggNOG COG0814 http://eggnogapi.embl.de/nog_data/html/tree/COG0814 eggNOG KOG1305 http://eggnogapi.embl.de/nog_data/html/tree/KOG1305 epestfind swissprot:S38A8_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S38A8_HUMAN garnier swissprot:S38A8_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S38A8_HUMAN helixturnhelix swissprot:S38A8_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S38A8_HUMAN hmoment swissprot:S38A8_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S38A8_HUMAN iep swissprot:S38A8_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S38A8_HUMAN inforesidue swissprot:S38A8_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S38A8_HUMAN neXtProt NX_A6NNN8 http://www.nextprot.org/db/entry/NX_A6NNN8 octanol swissprot:S38A8_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S38A8_HUMAN pepcoil swissprot:S38A8_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S38A8_HUMAN pepdigest swissprot:S38A8_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S38A8_HUMAN pepinfo swissprot:S38A8_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S38A8_HUMAN pepnet swissprot:S38A8_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S38A8_HUMAN pepstats swissprot:S38A8_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S38A8_HUMAN pepwheel swissprot:S38A8_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S38A8_HUMAN pepwindow swissprot:S38A8_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S38A8_HUMAN sigcleave swissprot:S38A8_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S38A8_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS KCNH5_HUMAN Event=Alternative splicing; Named isoforms=3; Comment=Experimental confirmation may be lacking for some isoforms.; Name=1; IsoId=Q8NCM2-1; Sequence=Displayed; Name=2; Synonyms=2b; IsoId=Q8NCM2-2; Sequence=VSP_000973, VSP_000974; Name=3; IsoId=Q8NCM2-3; Sequence=VSP_000972, VSP_000975, VSP_000976; # AltName KCNH5_HUMAN Ether-a-go-go potassium channel 2 # AltName KCNH5_HUMAN Voltage-gated potassium channel subunit Kv10.2 # CCDS CCDS45122 -. [Q8NCM2-2] # CCDS CCDS9756 -. [Q8NCM2-1] # DOMAIN KCNH5_HUMAN The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position. # Ensembl ENST00000322893 ENSP00000321427; ENSG00000140015. [Q8NCM2-1] # Ensembl ENST00000394968 ENSP00000378419; ENSG00000140015. [Q8NCM2-3] # Ensembl ENST00000420622 ENSP00000395439; ENSG00000140015. [Q8NCM2-2] # FUNCTION KCNH5_HUMAN Pore-forming (alpha) subunit of voltage-gated potassium channel. Elicits a non-inactivating outward rectifying current. Channel properties may be modulated by cAMP and subunit assembly. # GO_component GO:0005622 intracellular; IDA:MGI. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0009986 cell surface; IDA:MGI. # GO_function GO:0000155 phosphorelay sensor kinase activity; IEA:InterPro. # GO_function GO:0005249 voltage-gated potassium channel activity; IBA:GO_Central. # GO_process GO:0010389 regulation of G2/M transition of mitotic cell cycle; IDA:MGI. # GO_process GO:0042391 regulation of membrane potential; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005622 intracellular # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0016301 kinase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0008150 biological_process # Gene3D 2.60.120.10 -; 1. # Genevisible Q8NCM2 HS # HGNC HGNC:6254 KCNH5 # InterPro IPR000014 PAS # InterPro IPR000595 cNMP-bd_dom # InterPro IPR000700 PAS-assoc_C # InterPro IPR001610 PAC # InterPro IPR003938 K_chnl_volt-dep_EAG/ELK/ERG # InterPro IPR003949 K_chnl_volt-dep_EAG # InterPro IPR005821 Ion_trans_dom # InterPro IPR014710 RmlC-like_jellyroll # InterPro IPR018490 cNMP-bd-like # KEGG_Brite ko04040 Ion channels # MIM 605716 gene # Organism KCNH5_HUMAN Homo sapiens (Human) # PRINTS PR01463 EAGCHANLFMLY # PRINTS PR01464 EAGCHANNEL # PROSITE PS50042 CNMP_BINDING_3 # PROSITE PS50113 PAC # Pfam PF00027 cNMP_binding # Pfam PF00520 Ion_trans # Pfam PF13426 PAS_9 # Proteomes UP000005640 Chromosome 14 # Reactome R-HSA-1296072 Voltage gated Potassium channels # RecName KCNH5_HUMAN Potassium voltage-gated channel subfamily H member 5 # RefSeq NP_647479 NM_139318.4. [Q8NCM2-1] # RefSeq NP_758963 NM_172375.2. [Q8NCM2-2] # SEQUENCE CAUTION Sequence=BAC11016.1; Type=Erroneous termination; Positions=436; Note=Translated as Gly.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the potassium channel family. H (Eag) (TC 1.A.1.20) subfamily. Kv10.2/KCNH5 sub-subfamily. {ECO 0000305}. # SIMILARITY Contains 1 PAC (PAS-associated C-terminal) domain. {ECO:0000255|PROSITE-ProRule PRU00141}. # SIMILARITY Contains 1 PAS (PER-ARNT-SIM) domain. {ECO 0000305}. # SIMILARITY Contains 1 cyclic nucleotide-binding domain. {ECO:0000255|PROSITE-ProRule PRU00060}. # SMART SM00086 PAC # SMART SM00100 cNMP # SUBCELLULAR LOCATION KCNH5_HUMAN Membrane; Multi-pass membrane protein. # SUBUNIT The potassium channel is probably composed of a homo- or heterotetrameric complex of pore-forming alpha subunits that can associate with modulating beta subunits. Heteromultimer with KCNH1/EAG (Probable). {ECO 0000305}. # SUPFAM SSF51206 SSF51206 # SUPFAM SSF55785 SSF55785 # TIGRFAMs TIGR00229 sensory_box # TISSUE SPECIFICITY KCNH5_HUMAN Detected in brain, skeletal muscle, heart, placenta, lung and liver, and at low levels in kidney. # UCSC uc001xfx human. [Q8NCM2-1] # eggNOG ENOG410XPSE LUCA # eggNOG KOG0498 Eukaryota BLAST swissprot:KCNH5_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCNH5_HUMAN BioCyc ZFISH:ENSG00000140015-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000140015-MONOMER COXPRESdb 27133 http://coxpresdb.jp/data/gene/27133.shtml CleanEx HS_KCNH5 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNH5 DOI 10.1002/pmic.200700887 http://dx.doi.org/10.1002/pmic.200700887 DOI 10.1016/S0014-5793(02)02365-7 http://dx.doi.org/10.1016/S0014-5793(02)02365-7 DOI 10.1016/S0014-5793(02)03055-7 http://dx.doi.org/10.1016/S0014-5793(02)03055-7 DOI 10.1038/nature01348 http://dx.doi.org/10.1038/nature01348 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AF418206 http://www.ebi.ac.uk/ena/data/view/AF418206 EMBL AF472412 http://www.ebi.ac.uk/ena/data/view/AF472412 EMBL AF493798 http://www.ebi.ac.uk/ena/data/view/AF493798 EMBL AK074484 http://www.ebi.ac.uk/ena/data/view/AK074484 EMBL AL109985 http://www.ebi.ac.uk/ena/data/view/AL109985 EMBL AL132666 http://www.ebi.ac.uk/ena/data/view/AL132666 EMBL AL137191 http://www.ebi.ac.uk/ena/data/view/AL137191 EMBL AL355101 http://www.ebi.ac.uk/ena/data/view/AL355101 EMBL BC073979 http://www.ebi.ac.uk/ena/data/view/BC073979 EMBL CH471061 http://www.ebi.ac.uk/ena/data/view/CH471061 Ensembl ENST00000322893 http://www.ensembl.org/id/ENST00000322893 Ensembl ENST00000394968 http://www.ensembl.org/id/ENST00000394968 Ensembl ENST00000420622 http://www.ensembl.org/id/ENST00000420622 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005622 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005622 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0009986 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009986 GO_function GO:0000155 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000155 GO_function GO:0005249 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005249 GO_process GO:0010389 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010389 GO_process GO:0042391 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042391 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005622 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005622 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0016301 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016301 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 Gene3D 2.60.120.10 http://www.cathdb.info/version/latest/superfamily/2.60.120.10 GeneCards KCNH5 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNH5 GeneID 27133 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=27133 GeneTree ENSGT00760000118772 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118772 HGNC HGNC:6254 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6254 HOGENOM HOG000230794 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000230794&db=HOGENOM6 HOVERGEN HBG101348 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG101348&db=HOVERGEN HPA HPA030487 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA030487 InParanoid Q8NCM2 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8NCM2 InterPro IPR000014 http://www.ebi.ac.uk/interpro/entry/IPR000014 InterPro IPR000595 http://www.ebi.ac.uk/interpro/entry/IPR000595 InterPro IPR000700 http://www.ebi.ac.uk/interpro/entry/IPR000700 InterPro IPR001610 http://www.ebi.ac.uk/interpro/entry/IPR001610 InterPro IPR003938 http://www.ebi.ac.uk/interpro/entry/IPR003938 InterPro IPR003949 http://www.ebi.ac.uk/interpro/entry/IPR003949 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR014710 http://www.ebi.ac.uk/interpro/entry/IPR014710 InterPro IPR018490 http://www.ebi.ac.uk/interpro/entry/IPR018490 Jabion 27133 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=27133 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:27133 http://www.genome.jp/dbget-bin/www_bget?hsa:27133 KEGG_Orthology KO:K04908 http://www.genome.jp/dbget-bin/www_bget?KO:K04908 MIM 605716 http://www.ncbi.nlm.nih.gov/omim/605716 OMA NKAEVVH http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=NKAEVVH OrthoDB EOG091G0OXR http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0OXR PRINTS PR01463 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01463 PRINTS PR01464 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01464 PROSITE PS50042 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50042 PROSITE PS50113 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50113 PSORT swissprot:KCNH5_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCNH5_HUMAN PSORT-B swissprot:KCNH5_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCNH5_HUMAN PSORT2 swissprot:KCNH5_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCNH5_HUMAN Pfam PF00027 http://pfam.xfam.org/family/PF00027 Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF13426 http://pfam.xfam.org/family/PF13426 PharmGKB PA30040 http://www.pharmgkb.org/do/serve?objId=PA30040&objCls=Gene Phobius swissprot:KCNH5_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCNH5_HUMAN PhylomeDB Q8NCM2 http://phylomedb.org/?seqid=Q8NCM2 ProteinModelPortal Q8NCM2 http://www.proteinmodelportal.org/query/uniprot/Q8NCM2 PubMed 11943152 http://www.ncbi.nlm.nih.gov/pubmed/11943152 PubMed 12135768 http://www.ncbi.nlm.nih.gov/pubmed/12135768 PubMed 12508121 http://www.ncbi.nlm.nih.gov/pubmed/12508121 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 18655026 http://www.ncbi.nlm.nih.gov/pubmed/18655026 Reactome R-HSA-1296072 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1296072 RefSeq NP_647479 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_647479 RefSeq NP_758963 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_758963 SMART SM00086 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00086 SMART SM00100 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00100 SMR Q8NCM2 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q8NCM2 STRING 9606.ENSP00000321427 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000321427&targetmode=cogs SUPFAM SSF51206 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF51206 SUPFAM SSF55785 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF55785 TIGRFAMs TIGR00229 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00229 UCSC uc001xfx http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001xfx&org=rat UniGene Hs.27043 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.27043 UniProtKB KCNH5_HUMAN http://www.uniprot.org/uniprot/KCNH5_HUMAN UniProtKB-AC Q8NCM2 http://www.uniprot.org/uniprot/Q8NCM2 charge swissprot:KCNH5_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCNH5_HUMAN eggNOG ENOG410XPSE http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XPSE eggNOG KOG0498 http://eggnogapi.embl.de/nog_data/html/tree/KOG0498 epestfind swissprot:KCNH5_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCNH5_HUMAN garnier swissprot:KCNH5_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCNH5_HUMAN helixturnhelix swissprot:KCNH5_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCNH5_HUMAN hmoment swissprot:KCNH5_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCNH5_HUMAN iep swissprot:KCNH5_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCNH5_HUMAN inforesidue swissprot:KCNH5_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCNH5_HUMAN neXtProt NX_Q8NCM2 http://www.nextprot.org/db/entry/NX_Q8NCM2 octanol swissprot:KCNH5_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCNH5_HUMAN pepcoil swissprot:KCNH5_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCNH5_HUMAN pepdigest swissprot:KCNH5_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCNH5_HUMAN pepinfo swissprot:KCNH5_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCNH5_HUMAN pepnet swissprot:KCNH5_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCNH5_HUMAN pepstats swissprot:KCNH5_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCNH5_HUMAN pepwheel swissprot:KCNH5_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCNH5_HUMAN pepwindow swissprot:KCNH5_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCNH5_HUMAN sigcleave swissprot:KCNH5_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCNH5_HUMAN ## Database ID URL or Descriptions # AltName IMA7_HUMAN Karyopherin subunit alpha-6 # BioGrid 117163 69 # ChiTaRS KPNA6 human # Ensembl ENST00000373625 ENSP00000362728; ENSG00000025800 # ExpressionAtlas O60684 baseline and differential # FUNCTION IMA7_HUMAN Functions in nuclear protein import as an adapter protein for nuclear receptor KPNB1. Binds specifically and directly to substrates containing either a simple or bipartite NLS motif. Docking of the importin/substrate complex to the nuclear pore complex (NPC) is mediated by KPNB1 through binding to nucleoporin FxFG repeats and the complex is subsequently translocated through the pore by an energy requiring, Ran- dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to importin-beta and the three components separate and importin-alpha and -beta are re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran from importin. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. {ECO 0000269|PubMed 10523667}. # GO_component GO:0005643 nuclear pore; IBA:GO_Central. # GO_component GO:0005654 nucleoplasm; IBA:GO_Central. # GO_component GO:0005829 cytosol; IBA:GO_Central. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_function GO:0008139 nuclear localization sequence binding; IBA:GO_Central. # GO_function GO:0008565 protein transporter activity; IBA:GO_Central. # GO_process GO:0006607 NLS-bearing protein import into nucleus; TAS:ProtInc. # GO_process GO:0045944 positive regulation of transcription from RNA polymerase II promoter; IEA:Ensembl. # GO_process GO:0060135 maternal process involved in female pregnancy; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005654 nucleoplasm # GOslim_component GO:0005829 cytosol # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0008565 protein transporter activity # GOslim_process GO:0006913 nucleocytoplasmic transport # GOslim_process GO:0008150 biological_process # Gene3D 1.25.10.10 -; 1. # Genevisible O60684 HS # HGNC HGNC:6399 KPNA6 # INTERACTION IMA7_HUMAN P46087 NOP2; NbExp=3; IntAct=EBI-359923, EBI-356811; Q9UKX7 NUP50; NbExp=5; IntAct=EBI-359923, EBI-2371082; Q15637 SF1; NbExp=4; IntAct=EBI-359923, EBI-744603; Q16594 TAF9; NbExp=3; IntAct=EBI-359923, EBI-712521; # IntAct O60684 41 # InterPro IPR000225 Armadillo # InterPro IPR002652 Importin-a_IBB # InterPro IPR011989 ARM-like # InterPro IPR016024 ARM-type_fold # InterPro IPR024931 Importing_su_alpha # InterPro IPR032413 Arm_3 # MIM 610563 gene # Organism IMA7_HUMAN Homo sapiens (Human) # PDB 4UAD X-ray; 2.42 A; A=59-536 # PIRSF PIRSF005673 Importin_alpha # PROSITE PS50176 ARM_REPEAT; 3 # PROSITE PS51214 IBB # Pfam PF00514 Arm; 8 # Pfam PF01749 IBB # Pfam PF16186 Arm_3 # Proteomes UP000005640 Chromosome 1 # RecName IMA7_HUMAN Importin subunit alpha-7 # RefSeq NP_036448 NM_012316.4 # SIMILARITY Belongs to the importin alpha family. {ECO 0000305}. # SIMILARITY Contains 1 IBB domain. {ECO:0000255|PROSITE- ProRule PRU00561}. # SIMILARITY Contains 10 ARM repeats. {ECO:0000255|PROSITE- ProRule PRU00259}. # SMART SM00185 ARM; 8 # SUBUNIT Interacts with ZIC3 (By similarity). Forms a complex with importin subunit beta-1. {ECO:0000250, ECO 0000269|PubMed:10523667}. # SUPFAM SSF48371 SSF48371 # TCDB 1.I.1.1 the nuclear pore complex (npc) family # TISSUE SPECIFICITY Widely expressed. {ECO:0000269|PubMed 10523667}. # UCSC uc001bug human # eggNOG COG5064 LUCA # eggNOG KOG0166 Eukaryota BLAST swissprot:IMA7_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:IMA7_HUMAN BioCyc ZFISH:ENSG00000025800-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000025800-MONOMER COXPRESdb 23633 http://coxpresdb.jp/data/gene/23633.shtml CleanEx HS_KPNA6 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KPNA6 DIP DIP-27609N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-27609N DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1016/j.molcel.2008.07.007 http://dx.doi.org/10.1016/j.molcel.2008.07.007 DOI 10.1021/ac9004309 http://dx.doi.org/10.1021/ac9004309 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.1210303109 http://dx.doi.org/10.1073/pnas.1210303109 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 DOI 10.1128/MCB.19.11.7782 http://dx.doi.org/10.1128/MCB.19.11.7782 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AF060543 http://www.ebi.ac.uk/ena/data/view/AF060543 EMBL AK315490 http://www.ebi.ac.uk/ena/data/view/AK315490 EMBL AL049795 http://www.ebi.ac.uk/ena/data/view/AL049795 EMBL AL049795 http://www.ebi.ac.uk/ena/data/view/AL049795 EMBL AL445248 http://www.ebi.ac.uk/ena/data/view/AL445248 EMBL AL445248 http://www.ebi.ac.uk/ena/data/view/AL445248 EMBL BC020520 http://www.ebi.ac.uk/ena/data/view/BC020520 EMBL BT009843 http://www.ebi.ac.uk/ena/data/view/BT009843 EMBL CH471059 http://www.ebi.ac.uk/ena/data/view/CH471059 EMBL CH471059 http://www.ebi.ac.uk/ena/data/view/CH471059 Ensembl ENST00000373625 http://www.ensembl.org/id/ENST00000373625 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005643 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005643 GO_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_function GO:0008139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008139 GO_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GO_process GO:0006607 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006607 GO_process GO:0045944 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045944 GO_process GO:0060135 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060135 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_process GO:0006913 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006913 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 Gene3D 1.25.10.10 http://www.cathdb.info/version/latest/superfamily/1.25.10.10 GeneCards KPNA6 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KPNA6 GeneID 23633 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=23633 GeneTree ENSGT00760000119094 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119094 HGNC HGNC:6399 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6399 HOVERGEN HBG001846 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG001846&db=HOVERGEN HPA HPA018863 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA018863 InParanoid O60684 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O60684 IntAct O60684 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O60684* InterPro IPR000225 http://www.ebi.ac.uk/interpro/entry/IPR000225 InterPro IPR002652 http://www.ebi.ac.uk/interpro/entry/IPR002652 InterPro IPR011989 http://www.ebi.ac.uk/interpro/entry/IPR011989 InterPro IPR016024 http://www.ebi.ac.uk/interpro/entry/IPR016024 InterPro IPR024931 http://www.ebi.ac.uk/interpro/entry/IPR024931 InterPro IPR032413 http://www.ebi.ac.uk/interpro/entry/IPR032413 Jabion 23633 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=23633 KEGG_Gene hsa:23633 http://www.genome.jp/dbget-bin/www_bget?hsa:23633 MIM 610563 http://www.ncbi.nlm.nih.gov/omim/610563 MINT MINT-1144956 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1144956 OMA HNDNKVA http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=HNDNKVA OrthoDB EOG091G095Z http://cegg.unige.ch/orthodb/results?searchtext=EOG091G095Z PDB 4UAD http://www.ebi.ac.uk/pdbe-srv/view/entry/4UAD PDBsum 4UAD http://www.ebi.ac.uk/pdbsum/4UAD PROSITE PS50176 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50176 PROSITE PS51214 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51214 PSORT swissprot:IMA7_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:IMA7_HUMAN PSORT-B swissprot:IMA7_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:IMA7_HUMAN PSORT2 swissprot:IMA7_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:IMA7_HUMAN Pfam PF00514 http://pfam.xfam.org/family/PF00514 Pfam PF01749 http://pfam.xfam.org/family/PF01749 Pfam PF16186 http://pfam.xfam.org/family/PF16186 PharmGKB PA30190 http://www.pharmgkb.org/do/serve?objId=PA30190&objCls=Gene Phobius swissprot:IMA7_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:IMA7_HUMAN PhylomeDB O60684 http://phylomedb.org/?seqid=O60684 ProteinModelPortal O60684 http://www.proteinmodelportal.org/query/uniprot/O60684 PubMed 10523667 http://www.ncbi.nlm.nih.gov/pubmed/10523667 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 18691976 http://www.ncbi.nlm.nih.gov/pubmed/18691976 PubMed 19413330 http://www.ncbi.nlm.nih.gov/pubmed/19413330 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 22814378 http://www.ncbi.nlm.nih.gov/pubmed/22814378 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 RefSeq NP_036448 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_036448 SMART SM00185 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00185 SMR O60684 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=O60684 STRING 9606.ENSP00000362728 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000362728&targetmode=cogs SUPFAM SSF48371 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48371 TCDB 1.I.1.1 http://www.tcdb.org/search/result.php?tc=1.I.1.1 UCSC uc001bug http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001bug&org=rat UniGene Hs.470588 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.470588 UniGene Hs.711019 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.711019 UniProtKB IMA7_HUMAN http://www.uniprot.org/uniprot/IMA7_HUMAN UniProtKB-AC O60684 http://www.uniprot.org/uniprot/O60684 charge swissprot:IMA7_HUMAN http://rest.g-language.org/emboss/charge/swissprot:IMA7_HUMAN eggNOG COG5064 http://eggnogapi.embl.de/nog_data/html/tree/COG5064 eggNOG KOG0166 http://eggnogapi.embl.de/nog_data/html/tree/KOG0166 epestfind swissprot:IMA7_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:IMA7_HUMAN garnier swissprot:IMA7_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:IMA7_HUMAN helixturnhelix swissprot:IMA7_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:IMA7_HUMAN hmoment swissprot:IMA7_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:IMA7_HUMAN iep swissprot:IMA7_HUMAN http://rest.g-language.org/emboss/iep/swissprot:IMA7_HUMAN inforesidue swissprot:IMA7_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:IMA7_HUMAN neXtProt NX_O60684 http://www.nextprot.org/db/entry/NX_O60684 octanol swissprot:IMA7_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:IMA7_HUMAN pepcoil swissprot:IMA7_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:IMA7_HUMAN pepdigest swissprot:IMA7_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:IMA7_HUMAN pepinfo swissprot:IMA7_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:IMA7_HUMAN pepnet swissprot:IMA7_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:IMA7_HUMAN pepstats swissprot:IMA7_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:IMA7_HUMAN pepwheel swissprot:IMA7_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:IMA7_HUMAN pepwindow swissprot:IMA7_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:IMA7_HUMAN sigcleave swissprot:IMA7_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:IMA7_HUMAN ## Database ID URL or Descriptions # AltName KCNH4_HUMAN Brain-specific eag-like channel 2 # AltName KCNH4_HUMAN Ether-a-go-go-like potassium channel 1 # AltName KCNH4_HUMAN Voltage-gated potassium channel subunit Kv12.3 # DOMAIN KCNH4_HUMAN The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position. # Ensembl ENST00000264661 ENSP00000264661; ENSG00000089558 # Ensembl ENST00000607371 ENSP00000475564; ENSG00000089558 # FUNCTION KCNH4_HUMAN Pore-forming (alpha) subunit of voltage-gated potassium channel. Elicits an outward current, but shows no inactivation. Channel properties may be modulated by cAMP and subunit assembly. # GO_component GO:0005622 intracellular; IEA:GOC. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0008076 voltage-gated potassium channel complex; TAS:ProtInc. # GO_function GO:0000155 phosphorelay sensor kinase activity; IEA:InterPro. # GO_function GO:0005249 voltage-gated potassium channel activity; TAS:ProtInc. # GO_process GO:0006813 potassium ion transport; TAS:ProtInc. # GO_process GO:0042391 regulation of membrane potential; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005622 intracellular # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0016301 kinase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # Gene3D 2.60.120.10 -; 1. # Genevisible Q9UQ05 HS # HGNC HGNC:6253 KCNH4 # InterPro IPR000014 PAS # InterPro IPR000595 cNMP-bd_dom # InterPro IPR000700 PAS-assoc_C # InterPro IPR001610 PAC # InterPro IPR003938 K_chnl_volt-dep_EAG/ELK/ERG # InterPro IPR003950 K_chnl_volt-dep_ELK # InterPro IPR005821 Ion_trans_dom # InterPro IPR014710 RmlC-like_jellyroll # InterPro IPR018490 cNMP-bd-like # KEGG_Brite ko04040 Ion channels # MIM 604528 gene # Organism KCNH4_HUMAN Homo sapiens (Human) # PRINTS PR01463 EAGCHANLFMLY # PRINTS PR01465 ELKCHANNEL # PROSITE PS50042 CNMP_BINDING_3 # PROSITE PS50112 PAS # PROSITE PS50113 PAC # Pfam PF00520 Ion_trans # Pfam PF13426 PAS_9 # Proteomes UP000005640 Chromosome 17 # Reactome R-HSA-1296072 Voltage gated Potassium channels # RecName KCNH4_HUMAN Potassium voltage-gated channel subfamily H member 4 # RefSeq NP_036417 NM_012285.2 # RefSeq XP_016879889 XM_017024400.1 # SIMILARITY Belongs to the potassium channel family. H (Eag) (TC 1.A.1.20) subfamily. Kv12.3/KCNH4 sub-subfamily. {ECO 0000305}. # SIMILARITY Contains 1 PAC (PAS-associated C-terminal) domain. {ECO:0000255|PROSITE-ProRule PRU00141}. # SIMILARITY Contains 1 PAS (PER-ARNT-SIM) domain. {ECO:0000255|PROSITE-ProRule PRU00140}. # SIMILARITY Contains 1 cyclic nucleotide-binding domain. {ECO:0000255|PROSITE-ProRule PRU00060}. # SMART SM00086 PAC # SMART SM00100 cNMP # SUBCELLULAR LOCATION KCNH4_HUMAN Membrane; Multi-pass membrane protein. # SUBUNIT KCNH4_HUMAN The potassium channel is probably composed of a homo- or heterotetrameric complex of pore-forming alpha subunits that can associate with modulating beta subunits. # SUPFAM SSF51206 SSF51206 # SUPFAM SSF55785 SSF55785 # TIGRFAMs TIGR00229 sensory_box # TISSUE SPECIFICITY KCNH4_HUMAN Detected only in brain, in particular in the telencephalon. Detected in putamen and caudate nucleus, and at lower levels in cerebral cortex, occipital and hippocampus. # UCSC uc002hzb human # eggNOG ENOG410XPSE LUCA # eggNOG KOG0498 Eukaryota BLAST swissprot:KCNH4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCNH4_HUMAN BioCyc ZFISH:ENSG00000089558-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000089558-MONOMER COXPRESdb 23415 http://coxpresdb.jp/data/gene/23415.shtml CleanEx HS_KCNH4 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNH4 DOI 10.1074/jbc.274.35.25018 http://dx.doi.org/10.1074/jbc.274.35.25018 DOI 10.1126/science.1133427 http://dx.doi.org/10.1126/science.1133427 EMBL AB022698 http://www.ebi.ac.uk/ena/data/view/AB022698 Ensembl ENST00000264661 http://www.ensembl.org/id/ENST00000264661 Ensembl ENST00000607371 http://www.ensembl.org/id/ENST00000607371 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005622 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005622 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0008076 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008076 GO_function GO:0000155 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000155 GO_function GO:0005249 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005249 GO_process GO:0006813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006813 GO_process GO:0042391 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042391 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005622 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005622 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0016301 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016301 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 Gene3D 2.60.120.10 http://www.cathdb.info/version/latest/superfamily/2.60.120.10 GeneCards KCNH4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNH4 GeneID 23415 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=23415 GeneTree ENSGT00760000118772 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118772 HGNC HGNC:6253 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6253 HOGENOM HOG000230794 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000230794&db=HOGENOM6 HOVERGEN HBG052232 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052232&db=HOVERGEN InParanoid Q9UQ05 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9UQ05 InterPro IPR000014 http://www.ebi.ac.uk/interpro/entry/IPR000014 InterPro IPR000595 http://www.ebi.ac.uk/interpro/entry/IPR000595 InterPro IPR000700 http://www.ebi.ac.uk/interpro/entry/IPR000700 InterPro IPR001610 http://www.ebi.ac.uk/interpro/entry/IPR001610 InterPro IPR003938 http://www.ebi.ac.uk/interpro/entry/IPR003938 InterPro IPR003950 http://www.ebi.ac.uk/interpro/entry/IPR003950 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR014710 http://www.ebi.ac.uk/interpro/entry/IPR014710 InterPro IPR018490 http://www.ebi.ac.uk/interpro/entry/IPR018490 Jabion 23415 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=23415 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:23415 http://www.genome.jp/dbget-bin/www_bget?hsa:23415 KEGG_Orthology KO:K04907 http://www.genome.jp/dbget-bin/www_bget?KO:K04907 MIM 604528 http://www.ncbi.nlm.nih.gov/omim/604528 OMA VPKAVWD http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=VPKAVWD OrthoDB EOG091G0OXR http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0OXR PRINTS PR01463 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01463 PRINTS PR01465 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01465 PROSITE PS50042 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50042 PROSITE PS50112 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50112 PROSITE PS50113 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50113 PSORT swissprot:KCNH4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCNH4_HUMAN PSORT-B swissprot:KCNH4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCNH4_HUMAN PSORT2 swissprot:KCNH4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCNH4_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF13426 http://pfam.xfam.org/family/PF13426 PharmGKB PA30039 http://www.pharmgkb.org/do/serve?objId=PA30039&objCls=Gene Phobius swissprot:KCNH4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCNH4_HUMAN PhylomeDB Q9UQ05 http://phylomedb.org/?seqid=Q9UQ05 ProteinModelPortal Q9UQ05 http://www.proteinmodelportal.org/query/uniprot/Q9UQ05 PubMed 10455180 http://www.ncbi.nlm.nih.gov/pubmed/10455180 PubMed 16959974 http://www.ncbi.nlm.nih.gov/pubmed/16959974 Reactome R-HSA-1296072 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1296072 RefSeq NP_036417 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_036417 RefSeq XP_016879889 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016879889 SMART SM00086 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00086 SMART SM00100 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00100 SMR Q9UQ05 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9UQ05 STRING 9606.ENSP00000264661 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000264661&targetmode=cogs SUPFAM SSF51206 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF51206 SUPFAM SSF55785 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF55785 TIGRFAMs TIGR00229 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00229 UCSC uc002hzb http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002hzb&org=rat UniGene Hs.304081 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.304081 UniProtKB KCNH4_HUMAN http://www.uniprot.org/uniprot/KCNH4_HUMAN UniProtKB-AC Q9UQ05 http://www.uniprot.org/uniprot/Q9UQ05 charge swissprot:KCNH4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCNH4_HUMAN eggNOG ENOG410XPSE http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XPSE eggNOG KOG0498 http://eggnogapi.embl.de/nog_data/html/tree/KOG0498 epestfind swissprot:KCNH4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCNH4_HUMAN garnier swissprot:KCNH4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCNH4_HUMAN helixturnhelix swissprot:KCNH4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCNH4_HUMAN hmoment swissprot:KCNH4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCNH4_HUMAN iep swissprot:KCNH4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCNH4_HUMAN inforesidue swissprot:KCNH4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCNH4_HUMAN neXtProt NX_Q9UQ05 http://www.nextprot.org/db/entry/NX_Q9UQ05 octanol swissprot:KCNH4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCNH4_HUMAN pepcoil swissprot:KCNH4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCNH4_HUMAN pepdigest swissprot:KCNH4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCNH4_HUMAN pepinfo swissprot:KCNH4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCNH4_HUMAN pepnet swissprot:KCNH4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCNH4_HUMAN pepstats swissprot:KCNH4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCNH4_HUMAN pepwheel swissprot:KCNH4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCNH4_HUMAN pepwindow swissprot:KCNH4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCNH4_HUMAN sigcleave swissprot:KCNH4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCNH4_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS FA26F_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q5R3K3-1; Sequence=Displayed; Name=2; IsoId=Q5R3K3-2; Sequence=VSP_055698, VSP_055699; Note=No experimental confirmation available. Gene prediction based on EST data.; # CCDS CCDS34519 -. [Q5R3K3-1] # CCDS CCDS64506 -. [Q5R3K3-2] # ChiTaRS FAM26F human # Ensembl ENST00000368605 ENSP00000357594; ENSG00000188820. [Q5R3K3-1] # Ensembl ENST00000368606 ENSP00000357595; ENSG00000188820. [Q5R3K3-2] # ExpressionAtlas Q5R3K3 baseline and differential # FUNCTION FA26F_HUMAN Pore-forming subunit of a voltage-gated ion channel. {ECO 0000250}. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_function GO:0005261 cation channel activity; IBA:GO_Central. # GO_process GO:0034220 ion transmembrane transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0055085 transmembrane transport # Genevisible Q5R3K3 HS # HGNC HGNC:33391 FAM26F # InterPro IPR029569 FAM26 # Organism FA26F_HUMAN Homo sapiens (Human) # Pfam PF14798 Ca_hom_mod # Proteomes UP000005640 Chromosome 6 # RecName FA26F_HUMAN Protein FAM26F # RefSeq NP_001010919 NM_001010919.2. [Q5R3K3-1] # RefSeq NP_001263389 NM_001276460.1. [Q5R3K3-2] # RefSeq XP_005267056 XM_005266999.3. [Q5R3K3-1] # SIMILARITY Belongs to the FAM26 family. {ECO 0000305}. # SUBCELLULAR LOCATION FA26F_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # UCSC uc003pwv human. [Q5R3K3-1] # eggNOG ENOG410IGW7 Eukaryota # eggNOG ENOG41115FT LUCA BLAST swissprot:FA26F_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:FA26F_HUMAN BioCyc ZFISH:G66-31668-MONOMER http://biocyc.org/getid?id=ZFISH:G66-31668-MONOMER COXPRESdb 441168 http://coxpresdb.jp/data/gene/441168.shtml CleanEx HS_FAM26F http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_FAM26F DOI 10.1038/nature02055 http://dx.doi.org/10.1038/nature02055 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL BC146842 http://www.ebi.ac.uk/ena/data/view/BC146842 EMBL CH471051 http://www.ebi.ac.uk/ena/data/view/CH471051 EMBL Z84488 http://www.ebi.ac.uk/ena/data/view/Z84488 Ensembl ENST00000368605 http://www.ensembl.org/id/ENST00000368605 Ensembl ENST00000368606 http://www.ensembl.org/id/ENST00000368606 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0005261 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005261 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards FAM26F http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=FAM26F GeneID 441168 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=441168 GeneTree ENSGT00530000062796 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000062796 HGNC HGNC:33391 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:33391 HOGENOM HOG000294134 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000294134&db=HOGENOM6 HOVERGEN HBG056946 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG056946&db=HOVERGEN HPA HPA017948 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA017948 HPA HPA062365 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA062365 InParanoid Q5R3K3 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q5R3K3 InterPro IPR029569 http://www.ebi.ac.uk/interpro/entry/IPR029569 Jabion 441168 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=441168 KEGG_Gene hsa:441168 http://www.genome.jp/dbget-bin/www_bget?hsa:441168 OMA PCNQAKA http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=PCNQAKA OrthoDB EOG091G0BN1 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0BN1 PSORT swissprot:FA26F_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:FA26F_HUMAN PSORT-B swissprot:FA26F_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:FA26F_HUMAN PSORT2 swissprot:FA26F_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:FA26F_HUMAN Pfam PF14798 http://pfam.xfam.org/family/PF14798 PharmGKB PA162387644 http://www.pharmgkb.org/do/serve?objId=PA162387644&objCls=Gene Phobius swissprot:FA26F_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:FA26F_HUMAN PhylomeDB Q5R3K3 http://phylomedb.org/?seqid=Q5R3K3 ProteinModelPortal Q5R3K3 http://www.proteinmodelportal.org/query/uniprot/Q5R3K3 PubMed 14574404 http://www.ncbi.nlm.nih.gov/pubmed/14574404 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 RefSeq NP_001010919 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001010919 RefSeq NP_001263389 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001263389 RefSeq XP_005267056 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005267056 STRING 9606.ENSP00000357594 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000357594&targetmode=cogs UCSC uc003pwv http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003pwv&org=rat UniGene Hs.381220 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.381220 UniProtKB FA26F_HUMAN http://www.uniprot.org/uniprot/FA26F_HUMAN UniProtKB-AC Q5R3K3 http://www.uniprot.org/uniprot/Q5R3K3 charge swissprot:FA26F_HUMAN http://rest.g-language.org/emboss/charge/swissprot:FA26F_HUMAN eggNOG ENOG410IGW7 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IGW7 eggNOG ENOG41115FT http://eggnogapi.embl.de/nog_data/html/tree/ENOG41115FT epestfind swissprot:FA26F_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:FA26F_HUMAN garnier swissprot:FA26F_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:FA26F_HUMAN helixturnhelix swissprot:FA26F_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:FA26F_HUMAN hmoment swissprot:FA26F_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:FA26F_HUMAN iep swissprot:FA26F_HUMAN http://rest.g-language.org/emboss/iep/swissprot:FA26F_HUMAN inforesidue swissprot:FA26F_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:FA26F_HUMAN neXtProt NX_Q5R3K3 http://www.nextprot.org/db/entry/NX_Q5R3K3 octanol swissprot:FA26F_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:FA26F_HUMAN pepcoil swissprot:FA26F_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:FA26F_HUMAN pepdigest swissprot:FA26F_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:FA26F_HUMAN pepinfo swissprot:FA26F_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:FA26F_HUMAN pepnet swissprot:FA26F_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:FA26F_HUMAN pepstats swissprot:FA26F_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:FA26F_HUMAN pepwheel swissprot:FA26F_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:FA26F_HUMAN pepwindow swissprot:FA26F_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:FA26F_HUMAN sigcleave swissprot:FA26F_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:FA26F_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS SV2B_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q7L1I2-1; Sequence=Displayed; Name=2; IsoId=Q7L1I2-2; Sequence=VSP_045194; Note=No experimental confirmation available.; # BioGrid 115228 3 # CCDS CCDS10370 -. [Q7L1I2-1] # CCDS CCDS53972 -. [Q7L1I2-2] # CDD cd06174 MFS; 2 # ChiTaRS SV2B human # Ensembl ENST00000330276 ENSP00000332818; ENSG00000185518. [Q7L1I2-1] # Ensembl ENST00000394232 ENSP00000377779; ENSG00000185518. [Q7L1I2-1] # Ensembl ENST00000545111 ENSP00000443243; ENSG00000185518. [Q7L1I2-2] # Ensembl ENST00000557410 ENSP00000450992; ENSG00000185518. [Q7L1I2-1] # FUNCTION SV2B_HUMAN Probably plays a role in the control of regulated secretion in neural and endocrine cells. {ECO 0000250}. # GO_component GO:0001669 acrosomal vesicle; IEA:UniProtKB-SubCell. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0008021 synaptic vesicle; ISS:ParkinsonsUK-UCL. # GO_component GO:0016020 membrane; ISS:ParkinsonsUK-UCL. # GO_component GO:0016021 integral component of membrane; IBA:GO_Central. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0030672 synaptic vesicle membrane; IBA:GO_Central. # GO_component GO:0043005 neuron projection; IBA:GO_Central. # GO_function GO:0022857 transmembrane transporter activity; IEA:InterPro. # GO_process GO:0001504 neurotransmitter uptake; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0031410 cytoplasmic vesicle # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # Genevisible Q7L1I2 HS # HGNC HGNC:16874 SV2B # INTERACTION SV2B_HUMAN Q96LI6 HSFY2; NbExp=3; IntAct=EBI-10290607, EBI-3957665; # InterPro IPR001646 5peptide_repeat # InterPro IPR005828 MFS_sugar_transport-like # InterPro IPR005829 Sugar_transporter_CS # InterPro IPR011701 MFS # InterPro IPR020846 MFS_dom # InterPro IPR022308 SV2 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02000 Transporters # KEGG_Pathway ko04512 ECM-receptor interaction # MIM 185861 gene # Organism SV2B_HUMAN Homo sapiens (Human) # PROSITE PS50850 MFS # PTM SV2B_HUMAN N-glycosylated. {ECO 0000250}. # PTM SV2B_HUMAN The N-terminal cytoplasmic domain is phosphorylated by CK1. {ECO 0000250}. # Pfam PF00083 Sugar_tr # Pfam PF07690 MFS_1 # Pfam PF13599 Pentapeptide_4 # Proteomes UP000005640 Chromosome 15 # Reactome R-HSA-5250955 Toxicity of botulinum toxin type D (BoNT/D) # Reactome R-HSA-5250968 Toxicity of botulinum toxin type A (BoNT/A) # Reactome R-HSA-5250981 Toxicity of botulinum toxin type F (BoNT/F) # Reactome R-HSA-5250992 Toxicity of botulinum toxin type E (BoNT/E) # RecName SV2B_HUMAN Synaptic vesicle glycoprotein 2B # RefSeq NP_001161052 NM_001167580.2. [Q7L1I2-2] # RefSeq NP_001309960 NM_001323031.2. [Q7L1I2-1] # RefSeq NP_001309961 NM_001323032.2. [Q7L1I2-1] # RefSeq NP_001309966 NM_001323037.2. [Q7L1I2-1] # RefSeq NP_001309967 NM_001323038.2. [Q7L1I2-1] # RefSeq NP_001309968 NM_001323039.2. [Q7L1I2-1] # RefSeq NP_001309969 NM_001323040.2. [Q7L1I2-2] # RefSeq NP_055663 NM_014848.6. [Q7L1I2-1] # RefSeq XP_005255055 XM_005254998.3. [Q7L1I2-1] # RefSeq XP_016878250 XM_017022761.1. [Q7L1I2-1] # RefSeq XP_016878251 XM_017022762.1. [Q7L1I2-1] # SEQUENCE CAUTION Sequence=BAA34455.2; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the major facilitator superfamily. {ECO 0000305}. # SUBCELLULAR LOCATION SV2B_HUMAN Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO 0000250|UniProtKB Q63564}; Multi- pass membrane protein {ECO 0000255}. Cytoplasmic vesicle, secretory vesicle, acrosome {ECO 0000250|UniProtKB Q63564}. Note=Associated with synaptic-like microvesicles but not with insulin-containing vesicles in insulin-secreting cells of the pancreas (By similarity). Localizes to microvesicles in the pinealocytes. Localizes to the acrosome in spermatids (By similarity). {ECO 0000250|UniProtKB Q63564}. # SUBUNIT Interacts with SYT1 in a calcium-independent manner. Forms a complex with SYT1, syntaxin-1 and SNAP25 (By similarity). {ECO 0000250}. # SUPFAM SSF103473 SSF103473; 3 # TIGRFAMs TIGR01299 synapt_SV2 # UCSC uc010uqv human. [Q7L1I2-1] # eggNOG COG0477 LUCA # eggNOG KOG0255 Eukaryota BLAST swissprot:SV2B_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SV2B_HUMAN BioCyc ZFISH:G66-33611-MONOMER http://biocyc.org/getid?id=ZFISH:G66-33611-MONOMER COXPRESdb 9899 http://coxpresdb.jp/data/gene/9899.shtml CleanEx HS_SV2B http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SV2B DOI 10.1038/nature04601 http://dx.doi.org/10.1038/nature04601 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1093/dnares/5.5.277 http://dx.doi.org/10.1093/dnares/5.5.277 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AB018278 http://www.ebi.ac.uk/ena/data/view/AB018278 EMBL AC123784 http://www.ebi.ac.uk/ena/data/view/AC123784 EMBL AC127520 http://www.ebi.ac.uk/ena/data/view/AC127520 EMBL AK294902 http://www.ebi.ac.uk/ena/data/view/AK294902 EMBL BC030011 http://www.ebi.ac.uk/ena/data/view/BC030011 EMBL CH471101 http://www.ebi.ac.uk/ena/data/view/CH471101 EMBL CR457086 http://www.ebi.ac.uk/ena/data/view/CR457086 EMBL FJ515843 http://www.ebi.ac.uk/ena/data/view/FJ515843 Ensembl ENST00000330276 http://www.ensembl.org/id/ENST00000330276 Ensembl ENST00000394232 http://www.ensembl.org/id/ENST00000394232 Ensembl ENST00000545111 http://www.ensembl.org/id/ENST00000545111 Ensembl ENST00000557410 http://www.ensembl.org/id/ENST00000557410 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0001669 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001669 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0008021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008021 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0030672 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030672 GO_component GO:0043005 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043005 GO_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GO_process GO:0001504 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001504 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0031410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GeneCards SV2B http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SV2B GeneID 9899 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=9899 GeneTree ENSGT00550000074384 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074384 HGNC HGNC:16874 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:16874 HOGENOM HOG000065727 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000065727&db=HOGENOM6 HOVERGEN HBG053967 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG053967&db=HOVERGEN HPA HPA046247 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA046247 InParanoid Q7L1I2 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q7L1I2 IntAct Q7L1I2 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q7L1I2* InterPro IPR001646 http://www.ebi.ac.uk/interpro/entry/IPR001646 InterPro IPR005828 http://www.ebi.ac.uk/interpro/entry/IPR005828 InterPro IPR005829 http://www.ebi.ac.uk/interpro/entry/IPR005829 InterPro IPR011701 http://www.ebi.ac.uk/interpro/entry/IPR011701 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 InterPro IPR022308 http://www.ebi.ac.uk/interpro/entry/IPR022308 Jabion 9899 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=9899 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Gene hsa:9899 http://www.genome.jp/dbget-bin/www_bget?hsa:9899 KEGG_Orthology KO:K06258 http://www.genome.jp/dbget-bin/www_bget?KO:K06258 KEGG_Pathway ko04512 http://www.genome.jp/kegg-bin/show_pathway?ko04512 MIM 185861 http://www.ncbi.nlm.nih.gov/omim/185861 OMA KMYFKHV http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=KMYFKHV OrthoDB EOG091G02NC http://cegg.unige.ch/orthodb/results?searchtext=EOG091G02NC PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PSORT swissprot:SV2B_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SV2B_HUMAN PSORT-B swissprot:SV2B_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SV2B_HUMAN PSORT2 swissprot:SV2B_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SV2B_HUMAN Pfam PF00083 http://pfam.xfam.org/family/PF00083 Pfam PF07690 http://pfam.xfam.org/family/PF07690 Pfam PF13599 http://pfam.xfam.org/family/PF13599 PharmGKB PA134930999 http://www.pharmgkb.org/do/serve?objId=PA134930999&objCls=Gene Phobius swissprot:SV2B_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SV2B_HUMAN PhylomeDB Q7L1I2 http://phylomedb.org/?seqid=Q7L1I2 ProteinModelPortal Q7L1I2 http://www.proteinmodelportal.org/query/uniprot/Q7L1I2 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16572171 http://www.ncbi.nlm.nih.gov/pubmed/16572171 PubMed 9872452 http://www.ncbi.nlm.nih.gov/pubmed/9872452 Reactome R-HSA-5250955 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5250955 Reactome R-HSA-5250968 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5250968 Reactome R-HSA-5250981 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5250981 Reactome R-HSA-5250992 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5250992 RefSeq NP_001161052 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001161052 RefSeq NP_001309960 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001309960 RefSeq NP_001309961 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001309961 RefSeq NP_001309966 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001309966 RefSeq NP_001309967 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001309967 RefSeq NP_001309968 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001309968 RefSeq NP_001309969 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001309969 RefSeq NP_055663 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_055663 RefSeq XP_005255055 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005255055 RefSeq XP_016878250 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016878250 RefSeq XP_016878251 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016878251 STRING 9606.ENSP00000332818 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000332818&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TIGRFAMs TIGR01299 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01299 UCSC uc010uqv http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc010uqv&org=rat UniGene Hs.21754 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.21754 UniProtKB SV2B_HUMAN http://www.uniprot.org/uniprot/SV2B_HUMAN UniProtKB-AC Q7L1I2 http://www.uniprot.org/uniprot/Q7L1I2 charge swissprot:SV2B_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SV2B_HUMAN eggNOG COG0477 http://eggnogapi.embl.de/nog_data/html/tree/COG0477 eggNOG KOG0255 http://eggnogapi.embl.de/nog_data/html/tree/KOG0255 epestfind swissprot:SV2B_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SV2B_HUMAN garnier swissprot:SV2B_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SV2B_HUMAN helixturnhelix swissprot:SV2B_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SV2B_HUMAN hmoment swissprot:SV2B_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SV2B_HUMAN iep swissprot:SV2B_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SV2B_HUMAN inforesidue swissprot:SV2B_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SV2B_HUMAN neXtProt NX_Q7L1I2 http://www.nextprot.org/db/entry/NX_Q7L1I2 octanol swissprot:SV2B_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SV2B_HUMAN pepcoil swissprot:SV2B_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SV2B_HUMAN pepdigest swissprot:SV2B_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SV2B_HUMAN pepinfo swissprot:SV2B_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SV2B_HUMAN pepnet swissprot:SV2B_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SV2B_HUMAN pepstats swissprot:SV2B_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SV2B_HUMAN pepwheel swissprot:SV2B_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SV2B_HUMAN pepwindow swissprot:SV2B_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SV2B_HUMAN sigcleave swissprot:SV2B_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SV2B_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS SC5A1_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P13866-1; Sequence=Displayed; Name=2; IsoId=P13866-2; Sequence=VSP_044782; Note=No experimental confirmation available.; # AltName SC5A1_HUMAN High affinity sodium-glucose cotransporter # AltName SC5A1_HUMAN Solute carrier family 5 member 1 # BioGrid 112414 2 # CCDS CCDS13902 -. [P13866-1] # CCDS CCDS58805 -. [P13866-2] # ChiTaRS SLC5A1 human # DISEASE SC5A1_HUMAN Congenital glucose/galactose malabsorption (GGM) [MIM 606824] Intestinal monosaccharide transporter deficiency. It is an autosomal recessive disorder manifesting itself within the first weeks of life. It is characterized by severe diarrhea and dehydration which are usually fatal unless glucose and galactose are eliminated from the diet. {ECO 0000269|PubMed 10036327, ECO 0000269|PubMed 11406349, ECO 0000269|PubMed 2008213, ECO 0000269|PubMed 8195156}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DrugBank DB08907 Canagliflozin # Ensembl ENST00000266088 ENSP00000266088; ENSG00000100170. [P13866-1] # Ensembl ENST00000543737 ENSP00000444898; ENSG00000100170. [P13866-2] # FUNCTION SC5A1_HUMAN Actively transports glucose into cells by Na(+) cotransport with a Na(+) to glucose coupling ratio of 2 1. Efficient substrate transport in mammalian kidney is provided by the concerted action of a low affinity high capacity and a high affinity low capacity Na(+)/glucose cotransporter arranged in series along kidney proximal tubules. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0005911 cell-cell junction; IEA:Ensembl. # GO_component GO:0016324 apical plasma membrane; IEA:Ensembl. # GO_component GO:0031526 brush border membrane; IEA:Ensembl. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function SC5A1_HUMAN GO 0005412 glucose sodium symporter activity; IDA MGI. # GO_process GO:0001951 intestinal D-glucose absorption; IBA:GO_Central. # GO_process GO:0008645 hexose transport; TAS:Reactome. # GO_process GO:0015758 glucose transport; IMP:MGI. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # Genevisible P13866 HS # HGNC HGNC:11036 SLC5A1 # INTERACTION SC5A1_HUMAN P00533 EGFR; NbExp=3; IntAct=EBI-1772443, EBI-297353; # InterPro IPR001734 Na/solute_symporter # InterPro IPR018212 Na/solute_symporter_CS # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02001 Solute carrier family # KEGG_Disease H01261 [Inherited metabolic disease] Congenital glucose-galactose malabsorption (GGM) # KEGG_Pathway ko04973 Carbohydrate digestion and absorption # KEGG_Pathway ko04976 Bile secretion # KEGG_Pathway ko04978 Mineral absorption # MIM 182380 gene # MIM 606824 phenotype # Organism SC5A1_HUMAN Homo sapiens (Human) # Orphanet 35710 Glucose-galactose malabsorption # PANTHER PTHR11819 PTHR11819; 2 # PIR A33545 A33545 # PROSITE PS00456 NA_SOLUT_SYMP_1 # PROSITE PS00457 NA_SOLUT_SYMP_2 # PROSITE PS50283 NA_SOLUT_SYMP_3 # PTM SC5A1_HUMAN N-glycosylation is not necessary for the cotransporter function. {ECO 0000269|PubMed 8567640}. # Pfam PF00474 SSF # Proteomes UP000005640 Chromosome 22 # Reactome R-HSA-189200 Hexose transport # Reactome R-HSA-428808 Na+-dependent glucose transporters # Reactome R-HSA-429593 Inositol transporters # RecName SC5A1_HUMAN Sodium/glucose cotransporter 1 # RefSeq NP_000334 NM_000343.3. [P13866-1] # RefSeq NP_001243243 NM_001256314.1. [P13866-2] # SIMILARITY Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family. {ECO 0000305}. # SUBCELLULAR LOCATION SC5A1_HUMAN Membrane; Multi-pass membrane protein. # TCDB 2.A.21.3:the solute sodium symporter (sss) family # TIGRFAMs TIGR00813 sss # TISSUE SPECIFICITY SC5A1_HUMAN Expressed mainly in intestine and kidney. # UCSC uc003amc human. [P13866-1] # eggNOG COG4146 LUCA # eggNOG ENOG410IP49 Eukaryota BLAST swissprot:SC5A1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SC5A1_HUMAN BioCyc ZFISH:ENSG00000100170-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000100170-MONOMER COXPRESdb 6523 http://coxpresdb.jp/data/gene/6523.shtml CleanEx HS_SLC5A1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC5A1 DOI 10.1016/S0925-4439(01)00043-6 http://dx.doi.org/10.1016/S0925-4439(01)00043-6 DOI 10.1016/S0925-4439(98)00109-4 http://dx.doi.org/10.1016/S0925-4439(98)00109-4 DOI 10.1038/350354a0 http://dx.doi.org/10.1038/350354a0 DOI 10.1038/990031 http://dx.doi.org/10.1038/990031 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.86.15.5748 http://dx.doi.org/10.1073/pnas.86.15.5748 DOI 10.1074/jbc.271.4.1925 http://dx.doi.org/10.1074/jbc.271.4.1925 DOI 10.1186/gb-2004-5-10-r84 http://dx.doi.org/10.1186/gb-2004-5-10-r84 DrugBank DB08907 http://www.drugbank.ca/drugs/DB08907 EMBL AK297665 http://www.ebi.ac.uk/ena/data/view/AK297665 EMBL AK312948 http://www.ebi.ac.uk/ena/data/view/AK312948 EMBL AK316184 http://www.ebi.ac.uk/ena/data/view/AK316184 EMBL AL022321 http://www.ebi.ac.uk/ena/data/view/AL022321 EMBL AL022321 http://www.ebi.ac.uk/ena/data/view/AL022321 EMBL AL022321 http://www.ebi.ac.uk/ena/data/view/AL022321 EMBL AL022321 http://www.ebi.ac.uk/ena/data/view/AL022321 EMBL AL022321 http://www.ebi.ac.uk/ena/data/view/AL022321 EMBL CH471095 http://www.ebi.ac.uk/ena/data/view/CH471095 EMBL CR456579 http://www.ebi.ac.uk/ena/data/view/CR456579 EMBL L29328 http://www.ebi.ac.uk/ena/data/view/L29328 EMBL L29329 http://www.ebi.ac.uk/ena/data/view/L29329 EMBL L29330 http://www.ebi.ac.uk/ena/data/view/L29330 EMBL L29331 http://www.ebi.ac.uk/ena/data/view/L29331 EMBL L29332 http://www.ebi.ac.uk/ena/data/view/L29332 EMBL L29333 http://www.ebi.ac.uk/ena/data/view/L29333 EMBL L29334 http://www.ebi.ac.uk/ena/data/view/L29334 EMBL L29335 http://www.ebi.ac.uk/ena/data/view/L29335 EMBL L29336 http://www.ebi.ac.uk/ena/data/view/L29336 EMBL L29337 http://www.ebi.ac.uk/ena/data/view/L29337 EMBL L29338 http://www.ebi.ac.uk/ena/data/view/L29338 EMBL L29339 http://www.ebi.ac.uk/ena/data/view/L29339 EMBL M24847 http://www.ebi.ac.uk/ena/data/view/M24847 EMBL Z74021 http://www.ebi.ac.uk/ena/data/view/Z74021 EMBL Z74021 http://www.ebi.ac.uk/ena/data/view/Z74021 EMBL Z74021 http://www.ebi.ac.uk/ena/data/view/Z74021 EMBL Z74021 http://www.ebi.ac.uk/ena/data/view/Z74021 EMBL Z74021 http://www.ebi.ac.uk/ena/data/view/Z74021 EMBL Z80998 http://www.ebi.ac.uk/ena/data/view/Z80998 EMBL Z80998 http://www.ebi.ac.uk/ena/data/view/Z80998 EMBL Z80998 http://www.ebi.ac.uk/ena/data/view/Z80998 EMBL Z80998 http://www.ebi.ac.uk/ena/data/view/Z80998 EMBL Z80998 http://www.ebi.ac.uk/ena/data/view/Z80998 EMBL Z83839 http://www.ebi.ac.uk/ena/data/view/Z83839 EMBL Z83839 http://www.ebi.ac.uk/ena/data/view/Z83839 EMBL Z83839 http://www.ebi.ac.uk/ena/data/view/Z83839 EMBL Z83839 http://www.ebi.ac.uk/ena/data/view/Z83839 EMBL Z83839 http://www.ebi.ac.uk/ena/data/view/Z83839 EMBL Z83849 http://www.ebi.ac.uk/ena/data/view/Z83849 EMBL Z83849 http://www.ebi.ac.uk/ena/data/view/Z83849 EMBL Z83849 http://www.ebi.ac.uk/ena/data/view/Z83849 EMBL Z83849 http://www.ebi.ac.uk/ena/data/view/Z83849 EMBL Z83849 http://www.ebi.ac.uk/ena/data/view/Z83849 Ensembl ENST00000266088 http://www.ensembl.org/id/ENST00000266088 Ensembl ENST00000543737 http://www.ensembl.org/id/ENST00000543737 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0005911 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005911 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:0031526 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031526 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0005412 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005412 GO_process GO:0001951 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001951 GO_process GO:0008645 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008645 GO_process GO:0015758 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015758 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GeneCards SLC5A1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC5A1 GeneID 6523 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6523 GeneTree ENSGT00760000118955 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118955 HGNC HGNC:11036 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11036 HOVERGEN HBG052859 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052859&db=HOVERGEN HPA CAB015467 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB015467 HPA HPA051805 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA051805 HPA HPA055106 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA055106 InParanoid P13866 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P13866 IntAct P13866 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P13866* InterPro IPR001734 http://www.ebi.ac.uk/interpro/entry/IPR001734 InterPro IPR018212 http://www.ebi.ac.uk/interpro/entry/IPR018212 Jabion 6523 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6523 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Disease H01261 http://www.genome.jp/dbget-bin/www_bget?H01261 KEGG_Gene hsa:6523 http://www.genome.jp/dbget-bin/www_bget?hsa:6523 KEGG_Orthology KO:K14158 http://www.genome.jp/dbget-bin/www_bget?KO:K14158 KEGG_Pathway ko04973 http://www.genome.jp/kegg-bin/show_pathway?ko04973 KEGG_Pathway ko04976 http://www.genome.jp/kegg-bin/show_pathway?ko04976 KEGG_Pathway ko04978 http://www.genome.jp/kegg-bin/show_pathway?ko04978 MIM 182380 http://www.ncbi.nlm.nih.gov/omim/182380 MIM 606824 http://www.ncbi.nlm.nih.gov/omim/606824 OMA KAGCTLC http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=KAGCTLC Orphanet 35710 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=35710 OrthoDB EOG091G077U http://cegg.unige.ch/orthodb/results?searchtext=EOG091G077U PANTHER PTHR11819 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11819 PROSITE PS00456 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00456 PROSITE PS00457 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00457 PROSITE PS50283 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50283 PSORT swissprot:SC5A1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SC5A1_HUMAN PSORT-B swissprot:SC5A1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SC5A1_HUMAN PSORT2 swissprot:SC5A1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SC5A1_HUMAN Pfam PF00474 http://pfam.xfam.org/family/PF00474 PharmGKB PA308 http://www.pharmgkb.org/do/serve?objId=PA308&objCls=Gene Phobius swissprot:SC5A1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SC5A1_HUMAN PhylomeDB P13866 http://phylomedb.org/?seqid=P13866 ProteinModelPortal P13866 http://www.proteinmodelportal.org/query/uniprot/P13866 PubMed 10036327 http://www.ncbi.nlm.nih.gov/pubmed/10036327 PubMed 10591208 http://www.ncbi.nlm.nih.gov/pubmed/10591208 PubMed 11406349 http://www.ncbi.nlm.nih.gov/pubmed/11406349 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15461802 http://www.ncbi.nlm.nih.gov/pubmed/15461802 PubMed 2008213 http://www.ncbi.nlm.nih.gov/pubmed/2008213 PubMed 2490366 http://www.ncbi.nlm.nih.gov/pubmed/2490366 PubMed 8195156 http://www.ncbi.nlm.nih.gov/pubmed/8195156 PubMed 8567640 http://www.ncbi.nlm.nih.gov/pubmed/8567640 Reactome R-HSA-189200 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-189200 Reactome R-HSA-428808 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-428808 Reactome R-HSA-429593 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-429593 RefSeq NP_000334 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000334 RefSeq NP_001243243 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001243243 STRING 9606.ENSP00000266088 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000266088&targetmode=cogs TCDB 2.A.21.3 http://www.tcdb.org/search/result.php?tc=2.A.21.3 TIGRFAMs TIGR00813 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00813 UCSC uc003amc http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003amc&org=rat UniGene Hs.1964 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.1964 UniProtKB SC5A1_HUMAN http://www.uniprot.org/uniprot/SC5A1_HUMAN UniProtKB-AC P13866 http://www.uniprot.org/uniprot/P13866 charge swissprot:SC5A1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SC5A1_HUMAN eggNOG COG4146 http://eggnogapi.embl.de/nog_data/html/tree/COG4146 eggNOG ENOG410IP49 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IP49 epestfind swissprot:SC5A1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SC5A1_HUMAN garnier swissprot:SC5A1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SC5A1_HUMAN helixturnhelix swissprot:SC5A1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SC5A1_HUMAN hmoment swissprot:SC5A1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SC5A1_HUMAN iep swissprot:SC5A1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SC5A1_HUMAN inforesidue swissprot:SC5A1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SC5A1_HUMAN neXtProt NX_P13866 http://www.nextprot.org/db/entry/NX_P13866 octanol swissprot:SC5A1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SC5A1_HUMAN pepcoil swissprot:SC5A1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SC5A1_HUMAN pepdigest swissprot:SC5A1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SC5A1_HUMAN pepinfo swissprot:SC5A1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SC5A1_HUMAN pepnet swissprot:SC5A1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SC5A1_HUMAN pepstats swissprot:SC5A1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SC5A1_HUMAN pepwheel swissprot:SC5A1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SC5A1_HUMAN pepwindow swissprot:SC5A1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SC5A1_HUMAN sigcleave swissprot:SC5A1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SC5A1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S4A4_HUMAN Event=Alternative splicing; Named isoforms=5; Name=1; Synonyms=hcNBC, hhNBC, hNBC1, pNBC, pNCB1, pNBC-1, NBC1b; IsoId=Q9Y6R1-1; Sequence=Displayed; Name=2; Synonyms=hkNBC, hkNBCe1, kNBC, kNBC1, kNBC-1, NBC1a; IsoId=Q9Y6R1-2; Sequence=VSP_016704, VSP_016705; Name=3; IsoId=Q9Y6R1-3; Sequence=VSP_016704, VSP_016705, VSP_016706, VSP_016707; Name=4; IsoId=Q9Y6R1-4; Sequence=VSP_016708; Name=5; IsoId=Q9Y6R1-5; Sequence=VSP_041003; # AltName S4A4_HUMAN Na(+)/HCO3(-) cotransporter # AltName S4A4_HUMAN Solute carrier family 4 member 4 # AltName S4A4_HUMAN kNBC1 # CCDS CCDS3549 -. [Q9Y6R1-2] # CCDS CCDS43236 -. [Q9Y6R1-1] # CCDS CCDS47071 -. [Q9Y6R1-5] # ChiTaRS SLC4A4 human # DISEASE S4A4_HUMAN Note=Loss of interaction with and stimulation by CA4 is the cause of retinitis pigmentosa type 17 (RP17). # DISEASE S4A4_HUMAN Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA) [MIM 604278] An extremely rare autosomal recessive syndrome characterized by short stature, profound proximal renal tubular acidosis, mental retardation, bilateral glaucoma, cataracts and bandkeratopathy. pRTA is due to a failure of the proximal tubular cells to reabsorb filtered bicarbonate from the urine, leading to urinary bicarbonate wasting and subsequent acidemia. {ECO 0000269|PubMed 10545938, ECO 0000269|PubMed 15471865, ECO 0000269|PubMed 15713912, ECO 0000269|PubMed 15930088, ECO 0000269|PubMed 16636648, ECO 0000269|PubMed 17661077}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DrugBank DB01390 Sodium bicarbonate # ENZYME REGULATION S4A4_HUMAN Inhibited by stilbene derivatives and regulated by cyclic AMP. # Ensembl ENST00000264485 ENSP00000264485; ENSG00000080493. [Q9Y6R1-1] # Ensembl ENST00000340595 ENSP00000344272; ENSG00000080493. [Q9Y6R1-2] # Ensembl ENST00000351898 ENSP00000307349; ENSG00000080493. [Q9Y6R1-4] # Ensembl ENST00000425175 ENSP00000393557; ENSG00000080493. [Q9Y6R1-5] # Ensembl ENST00000512686 ENSP00000422400; ENSG00000080493. [Q9Y6R1-3] # ExpressionAtlas Q9Y6R1 baseline and differential # FUNCTION S4A4_HUMAN Electrogenic sodium/bicarbonate cotransporter with a Na(+) HCO3(-) stoichiometry varying from 1 2 to 1 3. May regulate bicarbonate influx/efflux at the basolateral membrane of cells and regulate intracellular pH. {ECO 0000269|PubMed 10069984, ECO 0000269|PubMed 12907161, ECO 0000269|PubMed 16636648, ECO 0000269|PubMed 16769890, ECO 0000269|PubMed 17661077, ECO 0000269|PubMed 9235899, ECO 0000269|PubMed 9651366}. # FUNCTION S4A4_HUMAN Isoform 2 May have a higher activity than isoform 1. {ECO 0000269|PubMed 16769890}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0016323 basolateral plasma membrane; IDA:UniProtKB. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0005452 inorganic anion exchanger activity; IEA:InterPro. # GO_function S4A4_HUMAN GO 0008510 sodium bicarbonate symporter activity; IMP UniProtKB. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0006814 sodium ion transport; IDA:UniProtKB. # GO_process GO:0015701 bicarbonate transport; TAS:Reactome. # GO_process GO:0051453 regulation of intracellular pH; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0042592 homeostatic process # Gene3D 3.40.1100.10 -; 1. # Genevisible Q9Y6R1 HS # HGNC HGNC:11030 SLC4A4 # INTERACTION S4A4_HUMAN P48283 CA4 (xeno); NbExp=2; IntAct=EBI-6859278, EBI-6859264; # IntAct Q9Y6R1 4 # InterPro IPR003020 HCO3_transpt_euk # InterPro IPR003024 Na/HCO3_transpt # InterPro IPR011531 HCO3_transpt_C # InterPro IPR013769 Band3_cytoplasmic_dom # InterPro IPR016152 PTrfase/Anion_transptr # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02001 Solute carrier family # KEGG_Disease H00429 [Urinary system disease] Proximal renal tubular acidosis (RTA type 2) # KEGG_Pathway ko04964 Proximal tubule bicarbonate reclamation # KEGG_Pathway ko04972 Pancreatic secretion # KEGG_Pathway ko04976 Bile secretion # MIM 603345 gene # MIM 604278 phenotype # Organism S4A4_HUMAN Homo sapiens (Human) # Orphanet 93607 Autosomal recessive proximal renal tubular acidosis # PANTHER PTHR11453 PTHR11453; 2 # PRINTS PR01231 HCO3TRNSPORT # PRINTS PR01232 NAHCO3TRSPRT # PTM S4A4_HUMAN N-glycosylation is not necessary for the transporter basic functions. {ECO 0000269|PubMed 12604466}. # PTM S4A4_HUMAN Phosphorylation of Ser-1026 by PKA increases the binding of CA2 and changes the Na(+) HCO3(-) stoichiometry of the transporter from 3 1 to 2 1. Phosphorylated in presence of STK39 and dephosphorylated in presence of PP1 phosphatase; phosphorylation seems to inhibit SLC4A4 activity. {ECO 0000250|UniProtKB O88343, ECO 0000269|PubMed 11744745, ECO 0000269|PubMed 12730338}. # Pfam PF00955 HCO3_cotransp # Pfam PF07565 Band_3_cyto # Proteomes UP000005640 Chromosome 4 # Reactome R-HSA-425381 Bicarbonate transporters # RecName S4A4_HUMAN Electrogenic sodium bicarbonate cotransporter 1 # RefSeq NP_001091954 NM_001098484.2. [Q9Y6R1-1] # RefSeq NP_003750 NM_003759.3. [Q9Y6R1-2] # SIMILARITY Belongs to the anion exchanger (TC 2.A.31) family. {ECO 0000305}. # SUBCELLULAR LOCATION S4A4_HUMAN Basolateral cell membrane {ECO 0000269|PubMed 12907161, ECO 0000269|PubMed 15273250, ECO 0000269|PubMed 16636648, ECO 0000269|PubMed 17661077}; Multi- pass membrane protein {ECO 0000269|PubMed 12907161, ECO 0000269|PubMed 15273250}. # SUBUNIT S4A4_HUMAN Interacts with CA2/carbonic anhydrase 2 and CA4/carbonic anhydrase 4 which may regulate transporter activity (PubMed 12411514, PubMed 14567693, PubMed 15218065, PubMed 15563508). Isoform 1 but not isoform 2 interacts with AHCYL1 (via PEST domain when phosphorylated); the interaction increases SLC4A4 isoform 1 activity (PubMed 16769890). Interacts with AHCYL2 (By similarity). {ECO 0000250|UniProtKB O88343, ECO 0000250|UniProtKB Q9GL77, ECO 0000269|PubMed 12411514, ECO 0000269|PubMed 14567693, ECO 0000269|PubMed 15218065, ECO 0000269|PubMed 15563508, ECO 0000269|PubMed 16769890}. # SUPFAM SSF55804 SSF55804 # TCDB 2.A.31.2.12 the anion exchanger (ae) family # TIGRFAMs TIGR00834 ae # TISSUE SPECIFICITY S4A4_HUMAN Isoform 1 is expressed in pancreas and to a lower extent in heart, skeletal muscle, liver, parotid salivary glands, prostate, colon, stomach, thyroid, brain and spinal chord. Corneal endothelium cells express only isoform 1 (at protein level). Isoform 2 is specifically expressed in kidney at the level of proximal tubules. {ECO 0000269|PubMed 10069984, ECO 0000269|PubMed 11743927, ECO 0000269|PubMed 12907161, ECO 0000269|PubMed 14559244, ECO 0000269|PubMed 15329059, ECO 0000269|PubMed 9235899, ECO 0000269|PubMed 9651366}. # UCSC uc003hfy human. [Q9Y6R1-1] # eggNOG ENOG410XPHD LUCA # eggNOG KOG1172 Eukaryota BLAST swissprot:S4A4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S4A4_HUMAN COXPRESdb 8671 http://coxpresdb.jp/data/gene/8671.shtml CleanEx HS_SLC4A4 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC4A4 DIP DIP-59373N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-59373N DOI 10.1007/s00424-007-0319-y http://dx.doi.org/10.1007/s00424-007-0319-y DOI 10.1016/S0003-9969(01)00098-X http://dx.doi.org/10.1016/S0003-9969(01)00098-X DOI 10.1016/S0014-4835(03)00150-7 http://dx.doi.org/10.1016/S0014-4835(03)00150-7 DOI 10.1016/j.bbrc.2003.09.147 http://dx.doi.org/10.1016/j.bbrc.2003.09.147 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/bi026826q http://dx.doi.org/10.1021/bi026826q DOI 10.1021/bi0353124 http://dx.doi.org/10.1021/bi0353124 DOI 10.1038/15440 http://dx.doi.org/10.1038/15440 DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1073/pnas.0602250103 http://dx.doi.org/10.1073/pnas.0602250103 DOI 10.1074/jbc.272.31.19111 http://dx.doi.org/10.1074/jbc.272.31.19111 DOI 10.1074/jbc.273.28.17689 http://dx.doi.org/10.1074/jbc.273.28.17689 DOI 10.1074/jbc.M114.619320 http://dx.doi.org/10.1074/jbc.M114.619320 DOI 10.1074/jbc.M405780200 http://dx.doi.org/10.1074/jbc.M405780200 DOI 10.1074/jbc.M406591200 http://dx.doi.org/10.1074/jbc.M406591200 DOI 10.1093/hmg/ddi023 http://dx.doi.org/10.1093/hmg/ddi023 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1365-201X.2004.01297.x http://dx.doi.org/10.1111/j.1365-201X.2004.01297.x DOI 10.1113/jphysiol.2001.012956 http://dx.doi.org/10.1113/jphysiol.2001.012956 DOI 10.1113/jphysiol.2002.029777 http://dx.doi.org/10.1113/jphysiol.2002.029777 DOI 10.1113/jphysiol.2003.042226 http://dx.doi.org/10.1113/jphysiol.2003.042226 DOI 10.1113/jphysiol.2004.065110 http://dx.doi.org/10.1113/jphysiol.2004.065110 DOI 10.1113/jphysiol.2005.084988 http://dx.doi.org/10.1113/jphysiol.2005.084988 DOI 10.1152/ajprenal.00032.2005 http://dx.doi.org/10.1152/ajprenal.00032.2005 DOI 10.1152/ajprenal.00131.2002 http://dx.doi.org/10.1152/ajprenal.00131.2002 DOI 10.1681/ASN.2004080667 http://dx.doi.org/10.1681/ASN.2004080667 DrugBank DB01390 http://www.drugbank.ca/drugs/DB01390 EMBL AB470072 http://www.ebi.ac.uk/ena/data/view/AB470072 EMBL AC019089 http://www.ebi.ac.uk/ena/data/view/AC019089 EMBL AC079230 http://www.ebi.ac.uk/ena/data/view/AC079230 EMBL AC096713 http://www.ebi.ac.uk/ena/data/view/AC096713 EMBL AC110783 http://www.ebi.ac.uk/ena/data/view/AC110783 EMBL AC112226 http://www.ebi.ac.uk/ena/data/view/AC112226 EMBL AF007216 http://www.ebi.ac.uk/ena/data/view/AF007216 EMBL AF011390 http://www.ebi.ac.uk/ena/data/view/AF011390 EMBL AF053753 http://www.ebi.ac.uk/ena/data/view/AF053753 EMBL AF053754 http://www.ebi.ac.uk/ena/data/view/AF053754 EMBL AF069510 http://www.ebi.ac.uk/ena/data/view/AF069510 EMBL AF157492 http://www.ebi.ac.uk/ena/data/view/AF157492 EMBL AF310248 http://www.ebi.ac.uk/ena/data/view/AF310248 EMBL BC030977 http://www.ebi.ac.uk/ena/data/view/BC030977 Ensembl ENST00000264485 http://www.ensembl.org/id/ENST00000264485 Ensembl ENST00000340595 http://www.ensembl.org/id/ENST00000340595 Ensembl ENST00000351898 http://www.ensembl.org/id/ENST00000351898 Ensembl ENST00000425175 http://www.ensembl.org/id/ENST00000425175 Ensembl ENST00000512686 http://www.ensembl.org/id/ENST00000512686 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016323 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0005452 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005452 GO_function GO:0008510 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008510 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0006814 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006814 GO_process GO:0015701 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015701 GO_process GO:0051453 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051453 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 Gene3D 3.40.1100.10 http://www.cathdb.info/version/latest/superfamily/3.40.1100.10 GeneCards SLC4A4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC4A4 GeneID 8671 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=8671 GeneTree ENSGT00760000119021 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119021 HGNC HGNC:11030 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11030 HOVERGEN HBG004326 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG004326&db=HOVERGEN HPA CAB022493 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB022493 HPA HPA035628 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA035628 HPA HPA035629 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA035629 InParanoid Q9Y6R1 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9Y6R1 IntAct Q9Y6R1 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9Y6R1* InterPro IPR003020 http://www.ebi.ac.uk/interpro/entry/IPR003020 InterPro IPR003024 http://www.ebi.ac.uk/interpro/entry/IPR003024 InterPro IPR011531 http://www.ebi.ac.uk/interpro/entry/IPR011531 InterPro IPR013769 http://www.ebi.ac.uk/interpro/entry/IPR013769 InterPro IPR016152 http://www.ebi.ac.uk/interpro/entry/IPR016152 Jabion 8671 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=8671 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Disease H00429 http://www.genome.jp/dbget-bin/www_bget?H00429 KEGG_Gene hsa:8671 http://www.genome.jp/dbget-bin/www_bget?hsa:8671 KEGG_Orthology KO:K13575 http://www.genome.jp/dbget-bin/www_bget?KO:K13575 KEGG_Pathway ko04964 http://www.genome.jp/kegg-bin/show_pathway?ko04964 KEGG_Pathway ko04972 http://www.genome.jp/kegg-bin/show_pathway?ko04972 KEGG_Pathway ko04976 http://www.genome.jp/kegg-bin/show_pathway?ko04976 MIM 603345 http://www.ncbi.nlm.nih.gov/omim/603345 MIM 604278 http://www.ncbi.nlm.nih.gov/omim/604278 OMA VCSFMAL http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=VCSFMAL Orphanet 93607 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=93607 PANTHER PTHR11453 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11453 PRINTS PR01231 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01231 PRINTS PR01232 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01232 PSORT swissprot:S4A4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S4A4_HUMAN PSORT-B swissprot:S4A4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S4A4_HUMAN PSORT2 swissprot:S4A4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S4A4_HUMAN Pfam PF00955 http://pfam.xfam.org/family/PF00955 Pfam PF07565 http://pfam.xfam.org/family/PF07565 PharmGKB PA35898 http://www.pharmgkb.org/do/serve?objId=PA35898&objCls=Gene Phobius swissprot:S4A4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S4A4_HUMAN PhylomeDB Q9Y6R1 http://phylomedb.org/?seqid=Q9Y6R1 ProteinModelPortal Q9Y6R1 http://www.proteinmodelportal.org/query/uniprot/Q9Y6R1 PubMed 10069984 http://www.ncbi.nlm.nih.gov/pubmed/10069984 PubMed 10545938 http://www.ncbi.nlm.nih.gov/pubmed/10545938 PubMed 11743927 http://www.ncbi.nlm.nih.gov/pubmed/11743927 PubMed 11744745 http://www.ncbi.nlm.nih.gov/pubmed/11744745 PubMed 12411514 http://www.ncbi.nlm.nih.gov/pubmed/12411514 PubMed 12534288 http://www.ncbi.nlm.nih.gov/pubmed/12534288 PubMed 12604466 http://www.ncbi.nlm.nih.gov/pubmed/12604466 PubMed 12730338 http://www.ncbi.nlm.nih.gov/pubmed/12730338 PubMed 12907161 http://www.ncbi.nlm.nih.gov/pubmed/12907161 PubMed 14559244 http://www.ncbi.nlm.nih.gov/pubmed/14559244 PubMed 14567693 http://www.ncbi.nlm.nih.gov/pubmed/14567693 PubMed 15218065 http://www.ncbi.nlm.nih.gov/pubmed/15218065 PubMed 15273250 http://www.ncbi.nlm.nih.gov/pubmed/15273250 PubMed 15329059 http://www.ncbi.nlm.nih.gov/pubmed/15329059 PubMed 15471865 http://www.ncbi.nlm.nih.gov/pubmed/15471865 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15563508 http://www.ncbi.nlm.nih.gov/pubmed/15563508 PubMed 15713912 http://www.ncbi.nlm.nih.gov/pubmed/15713912 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 PubMed 15817634 http://www.ncbi.nlm.nih.gov/pubmed/15817634 PubMed 15930088 http://www.ncbi.nlm.nih.gov/pubmed/15930088 PubMed 16636648 http://www.ncbi.nlm.nih.gov/pubmed/16636648 PubMed 16769890 http://www.ncbi.nlm.nih.gov/pubmed/16769890 PubMed 17661077 http://www.ncbi.nlm.nih.gov/pubmed/17661077 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 25568315 http://www.ncbi.nlm.nih.gov/pubmed/25568315 PubMed 9235899 http://www.ncbi.nlm.nih.gov/pubmed/9235899 PubMed 9651366 http://www.ncbi.nlm.nih.gov/pubmed/9651366 Reactome R-HSA-425381 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-425381 RefSeq NP_001091954 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001091954 RefSeq NP_003750 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_003750 STRING 9606.ENSP00000393557 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000393557&targetmode=cogs SUPFAM SSF55804 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF55804 TCDB 2.A.31.2.12 http://www.tcdb.org/search/result.php?tc=2.A.31.2.12 TIGRFAMs TIGR00834 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00834 UCSC uc003hfy http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003hfy&org=rat UniGene Hs.5462 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.5462 UniProtKB S4A4_HUMAN http://www.uniprot.org/uniprot/S4A4_HUMAN UniProtKB-AC Q9Y6R1 http://www.uniprot.org/uniprot/Q9Y6R1 charge swissprot:S4A4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S4A4_HUMAN eggNOG ENOG410XPHD http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XPHD eggNOG KOG1172 http://eggnogapi.embl.de/nog_data/html/tree/KOG1172 epestfind swissprot:S4A4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S4A4_HUMAN garnier swissprot:S4A4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S4A4_HUMAN helixturnhelix swissprot:S4A4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S4A4_HUMAN hmoment swissprot:S4A4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S4A4_HUMAN iep swissprot:S4A4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S4A4_HUMAN inforesidue swissprot:S4A4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S4A4_HUMAN neXtProt NX_Q9Y6R1 http://www.nextprot.org/db/entry/NX_Q9Y6R1 octanol swissprot:S4A4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S4A4_HUMAN pepcoil swissprot:S4A4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S4A4_HUMAN pepdigest swissprot:S4A4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S4A4_HUMAN pepinfo swissprot:S4A4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S4A4_HUMAN pepnet swissprot:S4A4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S4A4_HUMAN pepstats swissprot:S4A4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S4A4_HUMAN pepwheel swissprot:S4A4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S4A4_HUMAN pepwindow swissprot:S4A4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S4A4_HUMAN sigcleave swissprot:S4A4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S4A4_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS ATPA_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=P25705-1; Sequence=Displayed; Name=2; IsoId=P25705-2; Sequence=VSP_045129; Name=3; IsoId=P25705-3; Sequence=VSP_054688; Note=No experimental confirmation available.; # BioGrid 106987 167 # CCDS CCDS11927 -. [P25705-1] # CCDS CCDS58620 -. [P25705-2] # CCDS CCDS59315 -. [P25705-3] # CDD cd01132 F1_ATPase_alpha # ChiTaRS ATP5A1 human # DISEASE ATPA_HUMAN Combined oxidative phosphorylation deficiency 22 (COXPD22) [MIM 616045] A mitochondrial disorder characterized by intrauterine growth retardation, microcephaly, hypotonia, pulmonary hypertension, failure to thrive, encephalopathy, and heart failure. {ECO 0000269|PubMed 23596069}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE ATPA_HUMAN Mitochondrial complex V deficiency, nuclear 4 (MC5DN4) [MIM 615228] A mitochondrial disorder with heterogeneous clinical manifestations including dysmorphic features, psychomotor retardation, hypotonia, growth retardation, cardiomyopathy, enlarged liver, hypoplastic kidneys and elevated lactate levels in urine, plasma and cerebrospinal fluid. {ECO 0000269|PubMed 23599390}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000282050 ENSP00000282050; ENSG00000152234. [P25705-1] # Ensembl ENST00000398752 ENSP00000381736; ENSG00000152234. [P25705-1] # Ensembl ENST00000590665 ENSP00000467037; ENSG00000152234. [P25705-3] # Ensembl ENST00000593152 ENSP00000465477; ENSG00000152234. [P25705-2] # ExpressionAtlas P25705 baseline and differential # FUNCTION ATPA_HUMAN Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Subunits alpha and beta form the catalytic core in F(1). Rotation of the central stalk against the surrounding alpha(3)beta(3) subunits leads to hydrolysis of ATP in three separate catalytic sites on the beta subunits. Subunit alpha does not bear the catalytic high-affinity ATP-binding sites (By similarity). {ECO 0000250, ECO 0000269|PubMed 10077593, ECO 0000269|PubMed 19285951}. # GO_component GO:0005739 mitochondrion; IDA:UniProtKB. # GO_component GO:0005743 mitochondrial inner membrane; IDA:UniProtKB. # GO_component GO:0005753 mitochondrial proton-transporting ATP synthase complex; IDA:UniProtKB. # GO_component GO:0005759 mitochondrial matrix; TAS:Reactome. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0031012 extracellular matrix; IDA:BHF-UCL. # GO_component GO:0043209 myelin sheath; IEA:Ensembl. # GO_component GO:0045261 proton-transporting ATP synthase complex, catalytic core F(1); IEA:UniProtKB-KW. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0005524 ATP binding; ISS:UniProtKB. # GO_function GO:0022857 transmembrane transporter activity; IC:UniProtKB. # GO_function GO:0042288 MHC class I protein binding; IDA:UniProtKB. # GO_function GO:0044822 poly(A) RNA binding; IDA:UniProtKB. # GO_function GO:0046933 proton-transporting ATP synthase activity, rotational mechanism; ISS:UniProtKB. # GO_process GO:0001937 negative regulation of endothelial cell proliferation; IMP:UniProtKB. # GO_process GO:0006629 lipid metabolic process; ISS:UniProtKB. # GO_process GO:0006754 ATP biosynthetic process; NAS:UniProtKB. # GO_process GO:0009790 embryo development; ISS:UniProtKB. # GO_process GO:0042776 mitochondrial ATP synthesis coupled proton transport; IC:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005739 mitochondrion # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0003723 RNA binding # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006629 lipid metabolic process # GOslim_process GO:0008150 biological_process # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0009790 embryo development # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0044281 small molecule metabolic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 2.40.30.20 -; 1. # Gene3D 3.40.50.300 -; 1. # Genevisible P25705 HS # HAMAP MF_01346 ATP_synth_alpha_bact # HGNC HGNC:823 ATP5A1 # INTERACTION ATPA_HUMAN P78537 BLOC1S1; NbExp=2; IntAct=EBI-351437, EBI-348630; Q9NTG7 SIRT3; NbExp=2; IntAct=EBI-351437, EBI-724621; P63104 YWHAZ; NbExp=3; IntAct=EBI-351437, EBI-347088; # IntAct P25705 61 # InterPro IPR000194 ATPase_F1/V1/A1_a/bsu_nucl-bd # InterPro IPR000793 ATP_synth_asu_C # InterPro IPR004100 ATPase_F1/V1/A1_a/bsu_N # InterPro IPR005294 ATP_synth_F1_asu # InterPro IPR020003 ATPase_a/bsu_AS # InterPro IPR023366 ATP_synth_asu-like # InterPro IPR027417 P-loop_NTPase # InterPro IPR033732 ATP_synth_F1_a # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Brite ko01000 Enzymes # KEGG_Disease H01369 [Inherited metabolic disease; Mitochondrial disease] Mitochondrial infantile bilateral striatal necrosis (MIBSN) # KEGG_Pathway ko00190 Oxidative phosphorylation # KEGG_Pathway ko05010 Alzheimer's disease # KEGG_Pathway ko05012 Parkinson's disease # KEGG_Pathway ko05016 Huntington's disease # MIM 164360 gene # MIM 615228 phenotype # MIM 616045 phenotype # Organism ATPA_HUMAN Homo sapiens (Human) # Orphanet 254913 Isolated ATP synthase deficiency # PANTHER PTHR15184:SF3 PTHR15184:SF3 # PIR S17193 PWHUA # PIRSF PIRSF039088 F_ATPase_subunit_alpha # PROSITE PS00152 ATPASE_ALPHA_BETA # PTM ATPA_HUMAN Acetylated on lysine residues. BLOC1S1 is required for acetylation. {ECO 0000269|PubMed 22309213}. # PTM ATPA_HUMAN The N-terminus is blocked. # Pfam PF00006 ATP-synt_ab # Pfam PF00306 ATP-synt_ab_C # Pfam PF02874 ATP-synt_ab_N # Proteomes UP000005640 Chromosome 18 # Reactome R-HSA-1268020 Mitochondrial protein import # Reactome R-HSA-163210 Formation of ATP by chemiosmotic coupling # RecName ATPA_HUMAN ATP synthase subunit alpha, mitochondrial # RefSeq NP_001001935 NM_001001935.2. [P25705-2] # RefSeq NP_001001937 NM_001001937.1. [P25705-1] # RefSeq NP_001244263 NM_001257334.1. [P25705-3] # RefSeq NP_001244264 NM_001257335.1. [P25705-2] # RefSeq NP_004037 NM_004046.5. [P25705-1] # SIMILARITY Belongs to the ATPase alpha/beta chains family. {ECO 0000305}. # SUBCELLULAR LOCATION ATPA_HUMAN Mitochondrion inner membrane {ECO 0000305}. Cell membrane; Peripheral membrane protein; Extracellular side {ECO 0000269|PubMed 10077593}. Note=Colocalizes with HRG on the cell surface of T-cells (PubMed 19285951). # SUBUNIT ATPA_HUMAN F-type ATPases have 2 components, CF(1) - the catalytic core - and CF(0) - the membrane proton channel. CF(1) has five subunits alpha(3), beta(3), gamma(1), delta(1), epsilon(1). CF(0) has three main subunits a, b and c. Interacts with ATPAF2 (PubMed 11410595). Interacts with HRG; the interaction occurs on the surface of T-cells and alters the cell morphology when associated with concanavalin (in vitro) (PubMed 19285951). Interacts with PLG (angiostatin peptide); the interaction inhibits most of the angiogenic properties of angiostatin (PubMed 10077593). Component of an ATP synthase complex composed of ATP5F1, ATP5G1, ATP5E, ATP5H, ATP5I, ATP5J, ATP5J2, MT-ATP6, MT-ATP8, ATP5A1, ATP5B, ATP5D, ATP5C1, ATP5O, ATP5L, USMG5 and MP68. Interacts with BLOC1S1 (PubMed 22309213). Interacts with BCL2L1 isoform BCL-X(L); the interaction mediates the association of BCL2L1 isoform BCL-X(L) with the mitochondrial membrane F(1)F(0) ATP synthase and enhances neurons metabolic efficency. Interacts with CLN5 and PPT1 (By similarity). {ECO 0000250|UniProtKB Q03265, ECO 0000269|PubMed 10077593, ECO 0000269|PubMed 11410595, ECO 0000269|PubMed 19285951, ECO 0000269|PubMed 22309213}. # SUPFAM SSF50615 SSF50615 # SUPFAM SSF52540 SSF52540 # TIGRFAMs TIGR00962 atpA # TISSUE SPECIFICITY Fetal lung, heart, liver, gut and kidney. Expressed at higher levels in the fetal brain, retina and spinal cord. {ECO:0000269|PubMed 8428659}. # TopDownProteomics P25705-1 -. [P25705-1] # UCSC uc010dnl human. [P25705-1] # eggNOG COG0056 LUCA # eggNOG KOG1353 Eukaryota BLAST swissprot:ATPA_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ATPA_HUMAN BioCyc ZFISH:HS07800-MONOMER http://biocyc.org/getid?id=ZFISH:HS07800-MONOMER COG COG0056 http://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=COG0056 COXPRESdb 498 http://coxpresdb.jp/data/gene/498.shtml CleanEx HS_ATP5A1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ATP5A1 DIP DIP-32871N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-32871N DOI 10.1002/elps.11501601192 http://dx.doi.org/10.1002/elps.11501601192 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1016/0167-4781(91)90183-M http://dx.doi.org/10.1016/0167-4781(91)90183-M DOI 10.1016/0167-4781(94)90255-0 http://dx.doi.org/10.1016/0167-4781(94)90255-0 DOI 10.1016/0378-1119(93)90124-L http://dx.doi.org/10.1016/0378-1119(93)90124-L DOI 10.1016/j.bbamem.2009.03.005 http://dx.doi.org/10.1016/j.bbamem.2009.03.005 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature03983 http://dx.doi.org/10.1038/nature03983 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1042/BJ20120118 http://dx.doi.org/10.1042/BJ20120118 DOI 10.1073/pnas.0908958106 http://dx.doi.org/10.1073/pnas.0908958106 DOI 10.1073/pnas.96.6.2811 http://dx.doi.org/10.1073/pnas.96.6.2811 DOI 10.1074/jbc.M104133200 http://dx.doi.org/10.1074/jbc.M104133200 DOI 10.1093/brain/awt086 http://dx.doi.org/10.1093/brain/awt086 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1175371 http://dx.doi.org/10.1126/science.1175371 DOI 10.1126/scisignal.2001570 http://dx.doi.org/10.1126/scisignal.2001570 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DOI 10.1212/WNL.0b013e3182918c40 http://dx.doi.org/10.1212/WNL.0b013e3182918c40 EMBL AC012569 http://www.ebi.ac.uk/ena/data/view/AC012569 EMBL AK092735 http://www.ebi.ac.uk/ena/data/view/AK092735 EMBL AK289457 http://www.ebi.ac.uk/ena/data/view/AK289457 EMBL AK302272 http://www.ebi.ac.uk/ena/data/view/AK302272 EMBL BC003119 http://www.ebi.ac.uk/ena/data/view/BC003119 EMBL BC007299 http://www.ebi.ac.uk/ena/data/view/BC007299 EMBL BC008028 http://www.ebi.ac.uk/ena/data/view/BC008028 EMBL BC011384 http://www.ebi.ac.uk/ena/data/view/BC011384 EMBL BC016046 http://www.ebi.ac.uk/ena/data/view/BC016046 EMBL BC019310 http://www.ebi.ac.uk/ena/data/view/BC019310 EMBL BC039135 http://www.ebi.ac.uk/ena/data/view/BC039135 EMBL BC064562 http://www.ebi.ac.uk/ena/data/view/BC064562 EMBL BC067385 http://www.ebi.ac.uk/ena/data/view/BC067385 EMBL BT007209 http://www.ebi.ac.uk/ena/data/view/BT007209 EMBL D14710 http://www.ebi.ac.uk/ena/data/view/D14710 EMBL D28126 http://www.ebi.ac.uk/ena/data/view/D28126 EMBL X59066 http://www.ebi.ac.uk/ena/data/view/X59066 EMBL X65460 http://www.ebi.ac.uk/ena/data/view/X65460 Ensembl ENST00000282050 http://www.ensembl.org/id/ENST00000282050 Ensembl ENST00000398752 http://www.ensembl.org/id/ENST00000398752 Ensembl ENST00000590665 http://www.ensembl.org/id/ENST00000590665 Ensembl ENST00000593152 http://www.ensembl.org/id/ENST00000593152 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0005753 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005753 GO_component GO:0005759 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005759 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0031012 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031012 GO_component GO:0043209 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043209 GO_component GO:0045261 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045261 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GO_function GO:0042288 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042288 GO_function GO:0044822 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044822 GO_function GO:0046933 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046933 GO_process GO:0001937 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001937 GO_process GO:0006629 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006629 GO_process GO:0006754 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006754 GO_process GO:0009790 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009790 GO_process GO:0042776 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042776 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0003723 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003723 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006629 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006629 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0009790 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009790 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 2.40.30.20 http://www.cathdb.info/version/latest/superfamily/2.40.30.20 Gene3D 3.40.50.300 http://www.cathdb.info/version/latest/superfamily/3.40.50.300 GeneCards ATP5A1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ATP5A1 GeneID 498 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=498 GeneTree ENSGT00550000074846 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074846 HAMAP MF_01346 http://hamap.expasy.org/unirule/MF_01346 HGNC HGNC:823 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:823 HOVERGEN HBG001536 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG001536&db=HOVERGEN HPA CAB013067 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB013067 HPA HPA040622 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA040622 HPA HPA044202 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA044202 InParanoid P25705 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P25705 IntAct P25705 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P25705* InterPro IPR000194 http://www.ebi.ac.uk/interpro/entry/IPR000194 InterPro IPR000793 http://www.ebi.ac.uk/interpro/entry/IPR000793 InterPro IPR004100 http://www.ebi.ac.uk/interpro/entry/IPR004100 InterPro IPR005294 http://www.ebi.ac.uk/interpro/entry/IPR005294 InterPro IPR020003 http://www.ebi.ac.uk/interpro/entry/IPR020003 InterPro IPR023366 http://www.ebi.ac.uk/interpro/entry/IPR023366 InterPro IPR027417 http://www.ebi.ac.uk/interpro/entry/IPR027417 InterPro IPR033732 http://www.ebi.ac.uk/interpro/entry/IPR033732 Jabion 498 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=498 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00002 http://www.genome.jp/dbget-bin/www_bget?ko00002 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Disease H01369 http://www.genome.jp/dbget-bin/www_bget?H01369 KEGG_Gene hsa:498 http://www.genome.jp/dbget-bin/www_bget?hsa:498 KEGG_Orthology KO:K02132 http://www.genome.jp/dbget-bin/www_bget?KO:K02132 KEGG_Pathway ko00190 http://www.genome.jp/kegg-bin/show_pathway?ko00190 KEGG_Pathway ko05010 http://www.genome.jp/kegg-bin/show_pathway?ko05010 KEGG_Pathway ko05012 http://www.genome.jp/kegg-bin/show_pathway?ko05012 KEGG_Pathway ko05016 http://www.genome.jp/kegg-bin/show_pathway?ko05016 MIM 164360 http://www.ncbi.nlm.nih.gov/omim/164360 MIM 615228 http://www.ncbi.nlm.nih.gov/omim/615228 MIM 616045 http://www.ncbi.nlm.nih.gov/omim/616045 MINT MINT-1163289 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1163289 OMA KRFNEAQ http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=KRFNEAQ Orphanet 254913 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=254913 OrthoDB EOG091G0D1M http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0D1M PANTHER PTHR15184:SF3 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR15184:SF3 PROSITE PS00152 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00152 PSORT swissprot:ATPA_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ATPA_HUMAN PSORT-B swissprot:ATPA_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ATPA_HUMAN PSORT2 swissprot:ATPA_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ATPA_HUMAN Pfam PF00006 http://pfam.xfam.org/family/PF00006 Pfam PF00306 http://pfam.xfam.org/family/PF00306 Pfam PF02874 http://pfam.xfam.org/family/PF02874 PharmGKB PA25115 http://www.pharmgkb.org/do/serve?objId=PA25115&objCls=Gene Phobius swissprot:ATPA_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ATPA_HUMAN PhylomeDB P25705 http://phylomedb.org/?seqid=P25705 ProteinModelPortal P25705 http://www.proteinmodelportal.org/query/uniprot/P25705 PubMed 10077593 http://www.ncbi.nlm.nih.gov/pubmed/10077593 PubMed 11410595 http://www.ncbi.nlm.nih.gov/pubmed/11410595 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16177791 http://www.ncbi.nlm.nih.gov/pubmed/16177791 PubMed 1830491 http://www.ncbi.nlm.nih.gov/pubmed/1830491 PubMed 19285951 http://www.ncbi.nlm.nih.gov/pubmed/19285951 PubMed 19608861 http://www.ncbi.nlm.nih.gov/pubmed/19608861 PubMed 19892738 http://www.ncbi.nlm.nih.gov/pubmed/19892738 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 21406692 http://www.ncbi.nlm.nih.gov/pubmed/21406692 PubMed 22309213 http://www.ncbi.nlm.nih.gov/pubmed/22309213 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 23596069 http://www.ncbi.nlm.nih.gov/pubmed/23596069 PubMed 23599390 http://www.ncbi.nlm.nih.gov/pubmed/23599390 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 7498159 http://www.ncbi.nlm.nih.gov/pubmed/7498159 PubMed 8086450 http://www.ncbi.nlm.nih.gov/pubmed/8086450 PubMed 8428659 http://www.ncbi.nlm.nih.gov/pubmed/8428659 Reactome R-HSA-1268020 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1268020 Reactome R-HSA-163210 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-163210 RefSeq NP_001001935 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001001935 RefSeq NP_001001937 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001001937 RefSeq NP_001244263 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001244263 RefSeq NP_001244264 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001244264 RefSeq NP_004037 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004037 SMR P25705 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P25705 STRING 9606.ENSP00000282050 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000282050&targetmode=cogs STRING COG0056 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=COG0056&targetmode=cogs SUPFAM SSF50615 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF50615 SUPFAM SSF52540 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52540 TIGRFAMs TIGR00962 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00962 UCSC uc010dnl http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc010dnl&org=rat UniGene Hs.298280 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.298280 UniProtKB ATPA_HUMAN http://www.uniprot.org/uniprot/ATPA_HUMAN UniProtKB-AC P25705 http://www.uniprot.org/uniprot/P25705 charge swissprot:ATPA_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ATPA_HUMAN eggNOG COG0056 http://eggnogapi.embl.de/nog_data/html/tree/COG0056 eggNOG KOG1353 http://eggnogapi.embl.de/nog_data/html/tree/KOG1353 epestfind swissprot:ATPA_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ATPA_HUMAN garnier swissprot:ATPA_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ATPA_HUMAN helixturnhelix swissprot:ATPA_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ATPA_HUMAN hmoment swissprot:ATPA_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ATPA_HUMAN iep swissprot:ATPA_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ATPA_HUMAN inforesidue swissprot:ATPA_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ATPA_HUMAN neXtProt NX_P25705 http://www.nextprot.org/db/entry/NX_P25705 octanol swissprot:ATPA_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ATPA_HUMAN pepcoil swissprot:ATPA_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ATPA_HUMAN pepdigest swissprot:ATPA_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ATPA_HUMAN pepinfo swissprot:ATPA_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ATPA_HUMAN pepnet swissprot:ATPA_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ATPA_HUMAN pepstats swissprot:ATPA_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ATPA_HUMAN pepwheel swissprot:ATPA_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ATPA_HUMAN pepwindow swissprot:ATPA_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ATPA_HUMAN sigcleave swissprot:ATPA_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ATPA_HUMAN ## Database ID URL or Descriptions # AltName IMA4_HUMAN Importin alpha Q2 # AltName IMA4_HUMAN Karyopherin subunit alpha-3 # AltName IMA4_HUMAN SRP1-gamma # BioGrid 110037 78 # CAUTION Was termed importin alpha-4. {ECO:0000305|PubMed 9395085}. # ChiTaRS KPNA3 human # DOMAIN IMA4_HUMAN Consists of an N-terminal hydrophilic region, a hydrophobic central region composed of 10 repeats, and a short hydrophilic C-terminus. The N-terminal hydrophilic region contains the importin beta binding domain (IBB domain), which is sufficient for binding importin beta and essential for nuclear protein import. # DOMAIN IMA4_HUMAN The IBB domain is thought to act as an intrasteric autoregulatory sequence by interacting with the internal autoinhibitory NLS. Binding of KPNB1 probably overlaps the internal NLS and contributes to a high affinity for cytoplasmic NLS-containing cargo substrates. After dissociation of the importin/substrate complex in the nucleus the internal autohibitory NLS contributes to a low affinity for nuclear NLS- containing proteins (By similarity). {ECO 0000250}. # DOMAIN IMA4_HUMAN The major and minor NLS binding sites are mainly involved in recognition of simple or bipartite NLS motifs. Structurally located within in a helical surface groove they contain several conserved Trp and Asn residues of the corresponding third helices (H3) of ARM repeats which mainly contribute to binding (By similarity). {ECO 0000250}. # Ensembl ENST00000261667 ENSP00000261667; ENSG00000102753 # ExpressionAtlas O00505 baseline and differential # FUNCTION IMA4_HUMAN Functions in nuclear protein import as an adapter protein for nuclear receptor KPNB1. Binds specifically and directly to substrates containing either a simple or bipartite NLS motif. Docking of the importin/substrate complex to the nuclear pore complex (NPC) is mediated by KPNB1 through binding to nucleoporin FxFG repeats and the complex is subsequently translocated through the pore by an energy requiring, Ran- dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to importin-beta and the three components separate and importin-alpha and -beta are re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran from importin. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. In vitro, mediates the nuclear import of human cytomegalovirus UL84 by recognizing a non- classical NLS. Recognizes NLSs of influenza A virus nucleoprotein probably through ARM repeats 7-9. # GO_component GO:0005643 nuclear pore; TAS:ProtInc. # GO_component GO:0005654 nucleoplasm; IBA:GO_Central. # GO_component GO:0005829 cytosol; IBA:GO_Central. # GO_function GO:0008139 nuclear localization sequence binding; TAS:ProtInc. # GO_function GO:0008565 protein transporter activity; IBA:GO_Central. # GO_process GO:0006461 protein complex assembly; TAS:ProtInc. # GO_process GO:0006607 NLS-bearing protein import into nucleus; TAS:ProtInc. # GO_process GO:0019054 modulation by virus of host process; TAS:Reactome. # GO_process GO:0046718 viral entry into host cell; IEA:UniProtKB-KW. # GO_process GO:0075732 viral penetration into host nucleus; IEA:UniProtKB-KW. # GO_process GO:0075733 intracellular transport of virus; TAS:Reactome. # GOslim_component GO:0005654 nucleoplasm # GOslim_component GO:0005829 cytosol # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0008565 protein transporter activity # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # GOslim_process GO:0006913 nucleocytoplasmic transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0044403 symbiosis, encompassing mutualism through parasitism # Gene3D 1.25.10.10 -; 1. # Genevisible O00505 HS # HGNC HGNC:6396 KPNA3 # INTERACTION IMA4_HUMAN P46527 CDKN1B; NbExp=4; IntAct=EBI-358297, EBI-519280; P19447 ERCC3; NbExp=3; IntAct=EBI-358297, EBI-1183307; Q8K4J6 Mkl1 (xeno); NbExp=9; IntAct=EBI-358297, EBI-8291665; # IntAct O00505 63 # InterPro IPR000225 Armadillo # InterPro IPR002652 Importin-a_IBB # InterPro IPR011989 ARM-like # InterPro IPR016024 ARM-type_fold # InterPro IPR024931 Importing_su_alpha # InterPro IPR032413 Arm_3 # MIM 601892 gene # Organism IMA4_HUMAN Homo sapiens (Human) # PIRSF PIRSF005673 Importin_alpha # PROSITE PS50176 ARM_REPEAT; 3 # PROSITE PS51214 IBB # Pfam PF00514 Arm; 8 # Pfam PF01749 IBB # Pfam PF16186 Arm_3 # Proteomes UP000005640 Chromosome 13 # Reactome R-HSA-1169408 ISG15 antiviral mechanism # Reactome R-HSA-168276 NS1 Mediated Effects on Host Pathways # RecName IMA4_HUMAN Importin subunit alpha-4 # RefSeq NP_002258 NM_002267.3 # SIMILARITY Belongs to the importin alpha family. {ECO 0000305}. # SIMILARITY Contains 1 IBB domain. {ECO:0000255|PROSITE- ProRule PRU00561}. # SIMILARITY Contains 10 ARM repeats. {ECO:0000255|PROSITE- ProRule PRU00259}. # SMART SM00185 ARM; 8 # SUBCELLULAR LOCATION IMA4_HUMAN Cytoplasm {ECO 0000250}. Nucleus {ECO 0000250}. # SUBUNIT IMA4_HUMAN Forms a complex with importin subunit beta-1. Interacts with HIV-1 integrase; this interaction might play a role in nuclear import of HIV pre-integration complex. Interacts with influenza virus nucleoprotein; this interaction might play a role in nuclear import of viral genome. Interacts with NCBP2/CBP20 and NCBP3 (PubMed 26382858). {ECO 0000269|PubMed 12740372, ECO 0000269|PubMed 20554775, ECO 0000269|PubMed 26382858}. # SUPFAM SSF48371 SSF48371 # TCDB 1.I.1.1 the nuclear pore complex (npc) family # TISSUE SPECIFICITY IMA4_HUMAN Ubiquitous. Highest levels in heart and skeletal muscle. # UCSC uc001vdj human # eggNOG COG5064 LUCA # eggNOG KOG0166 Eukaryota BLAST swissprot:IMA4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:IMA4_HUMAN BioCyc ZFISH:ENSG00000102753-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000102753-MONOMER COXPRESdb 3839 http://coxpresdb.jp/data/gene/3839.shtml CleanEx HS_KPNA3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KPNA3 DIP DIP-27586N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-27586N DOI 10.1002/pmic.200700884 http://dx.doi.org/10.1002/pmic.200700884 DOI 10.1016/S0014-5793(97)01265-9 http://dx.doi.org/10.1016/S0014-5793(97)01265-9 DOI 10.1016/j.cell.2006.09.026 http://dx.doi.org/10.1016/j.cell.2006.09.026 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/ac9004309 http://dx.doi.org/10.1021/ac9004309 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature02379 http://dx.doi.org/10.1038/nature02379 DOI 10.1038/ncomms9192 http://dx.doi.org/10.1038/ncomms9192 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1073/pnas.95.2.582 http://dx.doi.org/10.1073/pnas.95.2.582 DOI 10.1074/jbc.M303571200 http://dx.doi.org/10.1074/jbc.M303571200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/scisignal.2000007 http://dx.doi.org/10.1126/scisignal.2000007 DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 DOI 10.1126/scisignal.2001570 http://dx.doi.org/10.1126/scisignal.2001570 DOI 10.1128/JVI.00508-10 http://dx.doi.org/10.1128/JVI.00508-10 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AF005263 http://www.ebi.ac.uk/ena/data/view/AF005263 EMBL AF034756 http://www.ebi.ac.uk/ena/data/view/AF034756 EMBL AK290528 http://www.ebi.ac.uk/ena/data/view/AK290528 EMBL AK291000 http://www.ebi.ac.uk/ena/data/view/AK291000 EMBL AL135901 http://www.ebi.ac.uk/ena/data/view/AL135901 EMBL AL135901 http://www.ebi.ac.uk/ena/data/view/AL135901 EMBL AL136301 http://www.ebi.ac.uk/ena/data/view/AL136301 EMBL AL136301 http://www.ebi.ac.uk/ena/data/view/AL136301 EMBL BC017355 http://www.ebi.ac.uk/ena/data/view/BC017355 EMBL BC024202 http://www.ebi.ac.uk/ena/data/view/BC024202 EMBL CH471075 http://www.ebi.ac.uk/ena/data/view/CH471075 EMBL D89618 http://www.ebi.ac.uk/ena/data/view/D89618 EMBL Y12394 http://www.ebi.ac.uk/ena/data/view/Y12394 Ensembl ENST00000261667 http://www.ensembl.org/id/ENST00000261667 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005643 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005643 GO_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_function GO:0008139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008139 GO_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GO_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GO_process GO:0006607 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006607 GO_process GO:0019054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019054 GO_process GO:0046718 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046718 GO_process GO:0075732 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0075732 GO_process GO:0075733 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0075733 GOslim_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006913 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006913 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0044403 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044403 Gene3D 1.25.10.10 http://www.cathdb.info/version/latest/superfamily/1.25.10.10 GeneCards KPNA3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KPNA3 GeneID 3839 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=3839 GeneTree ENSGT00760000119094 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119094 HGNC HGNC:6396 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6396 HOGENOM HOG000167616 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000167616&db=HOGENOM6 HOVERGEN HBG001846 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG001846&db=HOVERGEN HPA HPA046852 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA046852 InParanoid O00505 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O00505 IntAct O00505 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O00505* InterPro IPR000225 http://www.ebi.ac.uk/interpro/entry/IPR000225 InterPro IPR002652 http://www.ebi.ac.uk/interpro/entry/IPR002652 InterPro IPR011989 http://www.ebi.ac.uk/interpro/entry/IPR011989 InterPro IPR016024 http://www.ebi.ac.uk/interpro/entry/IPR016024 InterPro IPR024931 http://www.ebi.ac.uk/interpro/entry/IPR024931 InterPro IPR032413 http://www.ebi.ac.uk/interpro/entry/IPR032413 Jabion 3839 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=3839 KEGG_Gene hsa:3839 http://www.genome.jp/dbget-bin/www_bget?hsa:3839 MIM 601892 http://www.ncbi.nlm.nih.gov/omim/601892 MINT MINT-88920 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-88920 OMA NCDVLSY http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=NCDVLSY OrthoDB EOG091G095Z http://cegg.unige.ch/orthodb/results?searchtext=EOG091G095Z PROSITE PS50176 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50176 PROSITE PS51214 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51214 PSORT swissprot:IMA4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:IMA4_HUMAN PSORT-B swissprot:IMA4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:IMA4_HUMAN PSORT2 swissprot:IMA4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:IMA4_HUMAN Pfam PF00514 http://pfam.xfam.org/family/PF00514 Pfam PF01749 http://pfam.xfam.org/family/PF01749 Pfam PF16186 http://pfam.xfam.org/family/PF16186 PharmGKB PA30187 http://www.pharmgkb.org/do/serve?objId=PA30187&objCls=Gene Phobius swissprot:IMA4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:IMA4_HUMAN PhylomeDB O00505 http://phylomedb.org/?seqid=O00505 ProteinModelPortal O00505 http://www.proteinmodelportal.org/query/uniprot/O00505 PubMed 12740372 http://www.ncbi.nlm.nih.gov/pubmed/12740372 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15057823 http://www.ncbi.nlm.nih.gov/pubmed/15057823 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 17081983 http://www.ncbi.nlm.nih.gov/pubmed/17081983 PubMed 18318008 http://www.ncbi.nlm.nih.gov/pubmed/18318008 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 19413330 http://www.ncbi.nlm.nih.gov/pubmed/19413330 PubMed 19690332 http://www.ncbi.nlm.nih.gov/pubmed/19690332 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 20554775 http://www.ncbi.nlm.nih.gov/pubmed/20554775 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 21406692 http://www.ncbi.nlm.nih.gov/pubmed/21406692 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 26382858 http://www.ncbi.nlm.nih.gov/pubmed/26382858 PubMed 9154134 http://www.ncbi.nlm.nih.gov/pubmed/9154134 PubMed 9395085 http://www.ncbi.nlm.nih.gov/pubmed/9395085 PubMed 9435235 http://www.ncbi.nlm.nih.gov/pubmed/9435235 Reactome R-HSA-1169408 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1169408 Reactome R-HSA-168276 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-168276 RefSeq NP_002258 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_002258 SMART SM00185 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00185 SMR O00505 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=O00505 STRING 9606.ENSP00000261667 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000261667&targetmode=cogs SUPFAM SSF48371 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48371 TCDB 1.I.1.1 http://www.tcdb.org/search/result.php?tc=1.I.1.1 UCSC uc001vdj http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001vdj&org=rat UniGene Hs.527919 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.527919 UniProtKB IMA4_HUMAN http://www.uniprot.org/uniprot/IMA4_HUMAN UniProtKB-AC O00505 http://www.uniprot.org/uniprot/O00505 charge swissprot:IMA4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:IMA4_HUMAN eggNOG COG5064 http://eggnogapi.embl.de/nog_data/html/tree/COG5064 eggNOG KOG0166 http://eggnogapi.embl.de/nog_data/html/tree/KOG0166 epestfind swissprot:IMA4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:IMA4_HUMAN garnier swissprot:IMA4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:IMA4_HUMAN helixturnhelix swissprot:IMA4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:IMA4_HUMAN hmoment swissprot:IMA4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:IMA4_HUMAN iep swissprot:IMA4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:IMA4_HUMAN inforesidue swissprot:IMA4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:IMA4_HUMAN neXtProt NX_O00505 http://www.nextprot.org/db/entry/NX_O00505 octanol swissprot:IMA4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:IMA4_HUMAN pepcoil swissprot:IMA4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:IMA4_HUMAN pepdigest swissprot:IMA4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:IMA4_HUMAN pepinfo swissprot:IMA4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:IMA4_HUMAN pepnet swissprot:IMA4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:IMA4_HUMAN pepstats swissprot:IMA4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:IMA4_HUMAN pepwheel swissprot:IMA4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:IMA4_HUMAN pepwindow swissprot:IMA4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:IMA4_HUMAN sigcleave swissprot:IMA4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:IMA4_HUMAN ## Database ID URL or Descriptions # AltName KCNE4_HUMAN MinK-related peptide 3 # AltName KCNE4_HUMAN Minimum potassium ion channel-related peptide 3 # AltName KCNE4_HUMAN Potassium channel subunit beta MiRP3 # BioGrid 117217 5 # Ensembl ENST00000281830 ENSP00000281830; ENSG00000152049 # FUNCTION KCNE4_HUMAN Ancillary protein that assembles as a beta subunit with a voltage-gated potassium channel complex of pore-forming alpha subunits. Modulates the gating kinetics and enhances stability of the channel complex. May associate with KCNQ1/KVLTQ1 and inhibit potassium current. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0016324 apical plasma membrane; IEA:Ensembl. # GO_function GO:0005249 voltage-gated potassium channel activity; IEA:InterPro. # GO_function GO:0044325 ion channel binding; IPI:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # Genevisible Q8WWG9 HS # HGNC HGNC:6244 KCNE4 # InterPro IPR000369 K_chnl_KCNE # KEGG_Brite ko04040 Ion channels # MIM 607775 gene # Organism KCNE4_HUMAN Homo sapiens (Human) # PRINTS PR00168 KCNECHANNEL # Pfam PF02060 ISK_Channel # Proteomes UP000005640 Chromosome 2 # Reactome R-HSA-5576890 Phase 3 - rapid repolarisation # Reactome R-HSA-5576893 Phase 2 - plateau phase # RecName KCNE4_HUMAN Potassium voltage-gated channel subfamily E member 4 # RefSeq NP_542402 NM_080671.3 # SEQUENCE CAUTION Sequence=AAH14429.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAL49979.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the potassium channel KCNE family. {ECO 0000305}. # SUBCELLULAR LOCATION KCNE4_HUMAN Membrane {ECO 0000305}; Single-pass membrane protein {ECO 0000305}. # SUBUNIT KCNE4_HUMAN Interacts with KCNQ1; impairs KCNQ1 localization in lipid rafts and inhibits voltage-gated potassium channel activity. {ECO 0000269|PubMed 12096056, ECO 0000269|PubMed 19687231, ECO 0000269|PubMed 20533308}. # TISSUE SPECIFICITY Predominantly expressed in embryo and adult uterus. Low expression found in kidney, small intestine, lung and heart. {ECO:0000269|PubMed 12096056}. # UCSC uc002vnl human # eggNOG ENOG410IWSX Eukaryota # eggNOG ENOG41129VY LUCA BLAST swissprot:KCNE4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCNE4_HUMAN BioCyc ZFISH:ENSG00000152049-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000152049-MONOMER COXPRESdb 23704 http://coxpresdb.jp/data/gene/23704.shtml CleanEx HS_KCNE4 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNE4 DOI 10.1002/jcp.22265 http://dx.doi.org/10.1002/jcp.22265 DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1085/jgp.200910234 http://dx.doi.org/10.1085/jgp.200910234 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1113/jphysiol.2002.017301 http://dx.doi.org/10.1113/jphysiol.2002.017301 EMBL AC017014 http://www.ebi.ac.uk/ena/data/view/AC017014 EMBL AK294423 http://www.ebi.ac.uk/ena/data/view/AK294423 EMBL AY065987 http://www.ebi.ac.uk/ena/data/view/AY065987 EMBL BC014429 http://www.ebi.ac.uk/ena/data/view/BC014429 Ensembl ENST00000281830 http://www.ensembl.org/id/ENST00000281830 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_function GO:0005249 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005249 GO_function GO:0044325 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044325 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GeneCards KCNE4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNE4 GeneID 23704 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=23704 GeneTree ENSGT00390000013776 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000013776 HGNC HGNC:6244 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6244 HOGENOM HOG000237340 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000237340&db=HOGENOM6 HOVERGEN HBG052229 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052229&db=HOVERGEN HPA HPA011420 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA011420 InParanoid Q8WWG9 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8WWG9 IntAct Q8WWG9 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q8WWG9* InterPro IPR000369 http://www.ebi.ac.uk/interpro/entry/IPR000369 Jabion 23704 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=23704 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:23704 http://www.genome.jp/dbget-bin/www_bget?hsa:23704 KEGG_Orthology KO:K04898 http://www.genome.jp/dbget-bin/www_bget?KO:K04898 MIM 607775 http://www.ncbi.nlm.nih.gov/omim/607775 OMA LWGEAMK http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=LWGEAMK OrthoDB EOG091G0QZW http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0QZW PRINTS PR00168 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00168 PSORT swissprot:KCNE4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCNE4_HUMAN PSORT-B swissprot:KCNE4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCNE4_HUMAN PSORT2 swissprot:KCNE4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCNE4_HUMAN Pfam PF02060 http://pfam.xfam.org/family/PF02060 PharmGKB PA30032 http://www.pharmgkb.org/do/serve?objId=PA30032&objCls=Gene Phobius swissprot:KCNE4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCNE4_HUMAN ProteinModelPortal Q8WWG9 http://www.proteinmodelportal.org/query/uniprot/Q8WWG9 PubMed 12096056 http://www.ncbi.nlm.nih.gov/pubmed/12096056 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 PubMed 19687231 http://www.ncbi.nlm.nih.gov/pubmed/19687231 PubMed 20533308 http://www.ncbi.nlm.nih.gov/pubmed/20533308 Reactome R-HSA-5576890 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576890 Reactome R-HSA-5576893 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576893 RefSeq NP_542402 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_542402 SMR Q8WWG9 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q8WWG9 STRING 9606.ENSP00000281830 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000281830&targetmode=cogs UCSC uc002vnl http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002vnl&org=rat UniGene Hs.348522 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.348522 UniProtKB KCNE4_HUMAN http://www.uniprot.org/uniprot/KCNE4_HUMAN UniProtKB-AC Q8WWG9 http://www.uniprot.org/uniprot/Q8WWG9 charge swissprot:KCNE4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCNE4_HUMAN eggNOG ENOG410IWSX http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IWSX eggNOG ENOG41129VY http://eggnogapi.embl.de/nog_data/html/tree/ENOG41129VY epestfind swissprot:KCNE4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCNE4_HUMAN garnier swissprot:KCNE4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCNE4_HUMAN helixturnhelix swissprot:KCNE4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCNE4_HUMAN hmoment swissprot:KCNE4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCNE4_HUMAN iep swissprot:KCNE4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCNE4_HUMAN inforesidue swissprot:KCNE4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCNE4_HUMAN neXtProt NX_Q8WWG9 http://www.nextprot.org/db/entry/NX_Q8WWG9 octanol swissprot:KCNE4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCNE4_HUMAN pepcoil swissprot:KCNE4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCNE4_HUMAN pepdigest swissprot:KCNE4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCNE4_HUMAN pepinfo swissprot:KCNE4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCNE4_HUMAN pepnet swissprot:KCNE4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCNE4_HUMAN pepstats swissprot:KCNE4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCNE4_HUMAN pepwheel swissprot:KCNE4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCNE4_HUMAN pepwindow swissprot:KCNE4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCNE4_HUMAN sigcleave swissprot:KCNE4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCNE4_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS CACB1_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; Synonyms=Beta-1b2, BetaA, Beta-1B, Beta1-2; IsoId=Q02641-1; Sequence=Displayed; Name=2; Synonyms=Beta-1M, BetaC, Beta-1a; IsoId=Q02641-2; Sequence=VSP_000623, VSP_000624, VSP_000625; Name=3; Synonyms=Beta-1b1, BetaB, Beta-1c, Beta1-3; IsoId=Q02641-3; Sequence=VSP_000624, VSP_000625; # AltName CACB1_HUMAN Calcium channel voltage-dependent subunit beta 1 # BioGrid 107236 9 # CCDS CCDS11334 -. [Q02641-2] # CCDS CCDS42311 -. [Q02641-1] # CCDS CCDS45665 -. [Q02641-3] # DrugBank DB00308 Ibutilide # DrugBank DB00393 Nimodipine # DrugBank DB00421 Spironolactone # DrugBank DB00653 Magnesium Sulfate # DrugBank DB00661 Verapamil # DrugBank DB00898 Ethanol # DrugBank DB04855 Dronedarone # Ensembl ENST00000344140 ENSP00000345461; ENSG00000067191. [Q02641-2] # Ensembl ENST00000394303 ENSP00000377840; ENSG00000067191. [Q02641-1] # Ensembl ENST00000394310 ENSP00000377847; ENSG00000067191. [Q02641-3] # ExpressionAtlas Q02641 baseline and differential # FUNCTION CACB1_HUMAN The beta subunit of voltage-dependent calcium channels contributes to the function of the calcium channel by increasing peak calcium current, shifting the voltage dependencies of activation and inactivation, modulating G protein inhibition and controlling the alpha-1 subunit membrane targeting. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005891 voltage-gated calcium channel complex; TAS:ProtInc. # GO_component GO:0042383 sarcolemma; IEA:UniProtKB-SubCell. # GO_function GO:0005245 voltage-gated calcium channel activity; TAS:ProtInc. # GO_function GO:0008331 high voltage-gated calcium channel activity; IBA:GO_Central. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0007268 chemical synaptic transmission; IBA:GO_Central. # GO_process GO:0007528 neuromuscular junction development; IBA:GO_Central. # GO_process GO:0061337 cardiac conduction; TAS:Reactome. # GO_process GO:1901385 regulation of voltage-gated calcium channel activity; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # Gene3D 3.40.50.300 -; 1. # Genevisible Q02641 HS # HGNC HGNC:1401 CACNB1 # IntAct Q02641 2 # InterPro IPR000584 VDCC_L_bsu # InterPro IPR001452 SH3_domain # InterPro IPR005443 VDCC_L_b1su # InterPro IPR008145 GK/Ca_channel_bsu # InterPro IPR027417 P-loop_NTPase # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04010 MAPK signaling pathway # KEGG_Pathway ko04260 Cardiac muscle contraction # KEGG_Pathway ko05410 Hypertrophic cardiomyopathy (HCM) # KEGG_Pathway ko05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC) # KEGG_Pathway ko05414 Dilated cardiomyopathy # MIM 114207 gene # Organism CACB1_HUMAN Homo sapiens (Human) # PANTHER PTHR11824 PTHR11824 # PIR A44461 A44461 # PIR B44461 B44461 # PIR C44461 C44461 # PIR I38002 I38002 # PIR I52859 I52859 # PIR I65766 I65766 # PIR I65767 I65767 # PIR JH0566 JH0566 # PRINTS PR01626 LCACHANNELB # PRINTS PR01627 LCACHANNELB1 # PROSITE PS50002 SH3 # Pfam PF00625 Guanylate_kin # Pfam PF12052 VGCC_beta4Aa_N # Proteomes UP000005640 Chromosome 17 # Reactome R-HSA-112308 Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels # Reactome R-HSA-419037 NCAM1 interactions # Reactome R-HSA-5576892 Phase 0 - rapid depolarisation # Reactome R-HSA-5576893 Phase 2 - plateau phase # Reactome R-HSA-5576894 Phase 1 - inactivation of fast Na+ channels # RecName CACB1_HUMAN Voltage-dependent L-type calcium channel subunit beta-1 # RefSeq NP_000714 NM_000723.4. [Q02641-1] # RefSeq NP_954855 NM_199247.2. [Q02641-2] # RefSeq NP_954856 NM_199248.2. [Q02641-3] # SEQUENCE CAUTION Sequence=CAA79825.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the calcium channel beta subunit family. {ECO 0000305}. # SIMILARITY Contains 1 SH3 domain. {ECO:0000255|PROSITE- ProRule PRU00192}. # SMART SM00072 GuKc # SUBCELLULAR LOCATION CACB1_HUMAN Cell membrane, sarcolemma; Peripheral membrane protein; Cytoplasmic side. # SUBUNIT The L-type calcium channel is composed of four subunits: alpha-1, alpha-2, beta and gamma. Interacts with JSRP1. Interacts with RYR1. Interacts with CBARP (By similarity). {ECO 0000250}. # SUPFAM SSF50044 SSF50044 # SUPFAM SSF52540 SSF52540 # TISSUE SPECIFICITY Isoform 1 and isoform 3 are expressed in brain, heart, spleen, central nervous system and neuroblastoma cells. Isoform 2 is expressed in skeletal muscle. {ECO:0000269|PubMed 8107964}. # UCSC uc002hrm human. [Q02641-1] # eggNOG ENOG410XRDI LUCA # eggNOG KOG3812 Eukaryota BLAST swissprot:CACB1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CACB1_HUMAN BioCyc ZFISH:ENSG00000067191-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000067191-MONOMER COXPRESdb 782 http://coxpresdb.jp/data/gene/782.shtml CleanEx HS_CACNB1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CACNB1 DOI 10.1016/0028-3908(93)90004-M http://dx.doi.org/10.1016/0028-3908(93)90004-M DOI 10.1016/0304-3940(96)13055-X http://dx.doi.org/10.1016/0304-3940(96)13055-X DOI 10.1016/0896-6273(92)90109-Q http://dx.doi.org/10.1016/0896-6273(92)90109-Q DOI 10.1016/S0304-3940(99)00851-4 http://dx.doi.org/10.1016/S0304-3940(99)00851-4 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1093/hmg/2.7.863 http://dx.doi.org/10.1093/hmg/2.7.863 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1133427 http://dx.doi.org/10.1126/science.1133427 DOI 10.1161/01.RES.72.6.1337 http://dx.doi.org/10.1161/01.RES.72.6.1337 DrugBank DB00308 http://www.drugbank.ca/drugs/DB00308 DrugBank DB00393 http://www.drugbank.ca/drugs/DB00393 DrugBank DB00421 http://www.drugbank.ca/drugs/DB00421 DrugBank DB00653 http://www.drugbank.ca/drugs/DB00653 DrugBank DB00661 http://www.drugbank.ca/drugs/DB00661 DrugBank DB00898 http://www.drugbank.ca/drugs/DB00898 DrugBank DB04855 http://www.drugbank.ca/drugs/DB04855 EMBL AB054985 http://www.ebi.ac.uk/ena/data/view/AB054985 EMBL AK289729 http://www.ebi.ac.uk/ena/data/view/AK289729 EMBL BC037311 http://www.ebi.ac.uk/ena/data/view/BC037311 EMBL CH471152 http://www.ebi.ac.uk/ena/data/view/CH471152 EMBL L06110 http://www.ebi.ac.uk/ena/data/view/L06110 EMBL L06111 http://www.ebi.ac.uk/ena/data/view/L06111 EMBL L06112 http://www.ebi.ac.uk/ena/data/view/L06112 EMBL M76560 http://www.ebi.ac.uk/ena/data/view/M76560 EMBL M92301 http://www.ebi.ac.uk/ena/data/view/M92301 EMBL M92302 http://www.ebi.ac.uk/ena/data/view/M92302 EMBL M92303 http://www.ebi.ac.uk/ena/data/view/M92303 EMBL U86952 http://www.ebi.ac.uk/ena/data/view/U86952 EMBL U86952 http://www.ebi.ac.uk/ena/data/view/U86952 EMBL U86952 http://www.ebi.ac.uk/ena/data/view/U86952 EMBL U86953 http://www.ebi.ac.uk/ena/data/view/U86953 EMBL U86953 http://www.ebi.ac.uk/ena/data/view/U86953 EMBL U86953 http://www.ebi.ac.uk/ena/data/view/U86953 EMBL U86954 http://www.ebi.ac.uk/ena/data/view/U86954 EMBL U86954 http://www.ebi.ac.uk/ena/data/view/U86954 EMBL U86954 http://www.ebi.ac.uk/ena/data/view/U86954 EMBL U86955 http://www.ebi.ac.uk/ena/data/view/U86955 EMBL U86955 http://www.ebi.ac.uk/ena/data/view/U86955 EMBL U86955 http://www.ebi.ac.uk/ena/data/view/U86955 EMBL U86956 http://www.ebi.ac.uk/ena/data/view/U86956 EMBL U86956 http://www.ebi.ac.uk/ena/data/view/U86956 EMBL U86956 http://www.ebi.ac.uk/ena/data/view/U86956 EMBL U86957 http://www.ebi.ac.uk/ena/data/view/U86957 EMBL U86957 http://www.ebi.ac.uk/ena/data/view/U86957 EMBL U86957 http://www.ebi.ac.uk/ena/data/view/U86957 EMBL U86958 http://www.ebi.ac.uk/ena/data/view/U86958 EMBL U86958 http://www.ebi.ac.uk/ena/data/view/U86958 EMBL U86958 http://www.ebi.ac.uk/ena/data/view/U86958 EMBL U86959 http://www.ebi.ac.uk/ena/data/view/U86959 EMBL U86959 http://www.ebi.ac.uk/ena/data/view/U86959 EMBL U86959 http://www.ebi.ac.uk/ena/data/view/U86959 EMBL U86960 http://www.ebi.ac.uk/ena/data/view/U86960 EMBL U86960 http://www.ebi.ac.uk/ena/data/view/U86960 EMBL U86960 http://www.ebi.ac.uk/ena/data/view/U86960 EMBL U86961 http://www.ebi.ac.uk/ena/data/view/U86961 EMBL Z21725 http://www.ebi.ac.uk/ena/data/view/Z21725 EMBL Z21726 http://www.ebi.ac.uk/ena/data/view/Z21726 Ensembl ENST00000344140 http://www.ensembl.org/id/ENST00000344140 Ensembl ENST00000394303 http://www.ensembl.org/id/ENST00000394303 Ensembl ENST00000394310 http://www.ensembl.org/id/ENST00000394310 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005891 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005891 GO_component GO:0042383 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042383 GO_function GO:0005245 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005245 GO_function GO:0008331 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008331 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0007268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007268 GO_process GO:0007528 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007528 GO_process GO:0061337 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061337 GO_process GO:1901385 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1901385 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 Gene3D 3.40.50.300 http://www.cathdb.info/version/latest/superfamily/3.40.50.300 GeneCards CACNB1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CACNB1 GeneID 782 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=782 GeneTree ENSGT00390000002740 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000002740 HGNC HGNC:1401 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:1401 HOVERGEN HBG050765 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050765&db=HOVERGEN HPA CAB009779 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB009779 HPA HPA023343 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA023343 InParanoid Q02641 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q02641 IntAct Q02641 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q02641* InterPro IPR000584 http://www.ebi.ac.uk/interpro/entry/IPR000584 InterPro IPR001452 http://www.ebi.ac.uk/interpro/entry/IPR001452 InterPro IPR005443 http://www.ebi.ac.uk/interpro/entry/IPR005443 InterPro IPR008145 http://www.ebi.ac.uk/interpro/entry/IPR008145 InterPro IPR027417 http://www.ebi.ac.uk/interpro/entry/IPR027417 Jabion 782 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=782 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:782 http://www.genome.jp/dbget-bin/www_bget?hsa:782 KEGG_Orthology KO:K04862 http://www.genome.jp/dbget-bin/www_bget?KO:K04862 KEGG_Pathway ko04010 http://www.genome.jp/kegg-bin/show_pathway?ko04010 KEGG_Pathway ko04260 http://www.genome.jp/kegg-bin/show_pathway?ko04260 KEGG_Pathway ko05410 http://www.genome.jp/kegg-bin/show_pathway?ko05410 KEGG_Pathway ko05412 http://www.genome.jp/kegg-bin/show_pathway?ko05412 KEGG_Pathway ko05414 http://www.genome.jp/kegg-bin/show_pathway?ko05414 MIM 114207 http://www.ncbi.nlm.nih.gov/omim/114207 MINT MINT-2857287 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-2857287 OMA SFWGGLE http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=SFWGGLE OrthoDB EOG091G09C1 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G09C1 PANTHER PTHR11824 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11824 PRINTS PR01626 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01626 PRINTS PR01627 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01627 PROSITE PS50002 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50002 PSORT swissprot:CACB1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CACB1_HUMAN PSORT-B swissprot:CACB1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CACB1_HUMAN PSORT2 swissprot:CACB1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CACB1_HUMAN Pfam PF00625 http://pfam.xfam.org/family/PF00625 Pfam PF12052 http://pfam.xfam.org/family/PF12052 PharmGKB PA87 http://www.pharmgkb.org/do/serve?objId=PA87&objCls=Gene Phobius swissprot:CACB1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CACB1_HUMAN PhylomeDB Q02641 http://phylomedb.org/?seqid=Q02641 ProteinModelPortal Q02641 http://www.proteinmodelportal.org/query/uniprot/Q02641 PubMed 10624822 http://www.ncbi.nlm.nih.gov/pubmed/10624822 PubMed 1309651 http://www.ncbi.nlm.nih.gov/pubmed/1309651 PubMed 1385409 http://www.ncbi.nlm.nih.gov/pubmed/1385409 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16959974 http://www.ncbi.nlm.nih.gov/pubmed/16959974 PubMed 7916667 http://www.ncbi.nlm.nih.gov/pubmed/7916667 PubMed 8107964 http://www.ncbi.nlm.nih.gov/pubmed/8107964 PubMed 8395940 http://www.ncbi.nlm.nih.gov/pubmed/8395940 PubMed 8905728 http://www.ncbi.nlm.nih.gov/pubmed/8905728 Reactome R-HSA-112308 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-112308 Reactome R-HSA-419037 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-419037 Reactome R-HSA-5576892 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576892 Reactome R-HSA-5576893 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576893 Reactome R-HSA-5576894 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576894 RefSeq NP_000714 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000714 RefSeq NP_954855 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_954855 RefSeq NP_954856 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_954856 SMART SM00072 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00072 SMR Q02641 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q02641 STRING 9606.ENSP00000377840 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000377840&targetmode=cogs SUPFAM SSF50044 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF50044 SUPFAM SSF52540 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52540 UCSC uc002hrm http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002hrm&org=rat UniGene Hs.635 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.635 UniProtKB CACB1_HUMAN http://www.uniprot.org/uniprot/CACB1_HUMAN UniProtKB-AC Q02641 http://www.uniprot.org/uniprot/Q02641 charge swissprot:CACB1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CACB1_HUMAN eggNOG ENOG410XRDI http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XRDI eggNOG KOG3812 http://eggnogapi.embl.de/nog_data/html/tree/KOG3812 epestfind swissprot:CACB1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CACB1_HUMAN garnier swissprot:CACB1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CACB1_HUMAN helixturnhelix swissprot:CACB1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CACB1_HUMAN hmoment swissprot:CACB1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CACB1_HUMAN iep swissprot:CACB1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CACB1_HUMAN inforesidue swissprot:CACB1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CACB1_HUMAN neXtProt NX_Q02641 http://www.nextprot.org/db/entry/NX_Q02641 octanol swissprot:CACB1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CACB1_HUMAN pepcoil swissprot:CACB1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CACB1_HUMAN pepdigest swissprot:CACB1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CACB1_HUMAN pepinfo swissprot:CACB1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CACB1_HUMAN pepnet swissprot:CACB1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CACB1_HUMAN pepstats swissprot:CACB1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CACB1_HUMAN pepwheel swissprot:CACB1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CACB1_HUMAN pepwindow swissprot:CACB1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CACB1_HUMAN sigcleave swissprot:CACB1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CACB1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS ZACN_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q401N2-1; Sequence=Displayed; Name=2; IsoId=Q401N2-2; Sequence=VSP_030911, VSP_030912; Name=3; IsoId=Q401N2-3; Sequence=VSP_030909, VSP_030910; Note=No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; # AltName ZACN_HUMAN Ligand-gated ion channel zinc-activated 1 # AltName ZACN_HUMAN Ligand-gated ion-channel receptor L2 # BioGrid 131658 70 # CAUTION It is uncertain whether Met-1 or Met-2 is the initiator. {ECO 0000305}. # CCDS CCDS11740 -. [Q401N2-1] # ChiTaRS ZACN human # Ensembl ENST00000334586 ENSP00000334854; ENSG00000186919. [Q401N2-1] # Ensembl ENST00000421794 ENSP00000391936; ENSG00000186919. [Q401N2-3] # Ensembl ENST00000425015 ENSP00000397489; ENSG00000186919. [Q401N2-2] # FUNCTION ZACN_HUMAN Zinc-activated ligand-gated ion channel. {ECO 0000269|PubMed 12381728}. # GO_component GO:0005886 plasma membrane; IDA:HGNC. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0004993 G-protein coupled serotonin receptor activity; IBA:GO_Central. # GO_function GO:0005232 serotonin-activated cation-selective channel activity; IBA:GO_Central. # GO_function GO:0008270 zinc ion binding; IC:HGNC. # GO_function GO:0015276 ligand-gated ion channel activity; IDA:BHF-UCL. # GO_process GO:0007210 serotonin receptor signaling pathway; IBA:GO_Central. # GO_process GO:0010043 response to zinc ion; IDA:HGNC. # GO_process GO:0034220 ion transmembrane transport; IDA:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.20.120.370 -; 1. # Gene3D 2.70.170.10 -; 1. # Genevisible Q401N2 HS # HGNC HGNC:29504 ZACN # InterPro IPR006029 Neurotrans-gated_channel_TM # InterPro IPR006201 Neur_channel # InterPro IPR006202 Neur_chan_lig-bd # InterPro IPR018000 Neurotransmitter_ion_chnl_CS # InterPro IPR027361 Acetylcholine_rcpt_TM # MIM 610935 gene # MISCELLANEOUS ZACN_HUMAN The mouse and rat orthologous proteins do not exist. # Organism ZACN_HUMAN Homo sapiens (Human) # PANTHER PTHR18945 PTHR18945 # PROSITE PS00236 NEUROTR_ION_CHANNEL # PTM ZACN_HUMAN Glycosylated. {ECO 0000269|PubMed 16083862}. # Pfam PF02931 Neur_chan_LBD # Proteomes UP000005640 Chromosome 17 # RecName ZACN_HUMAN Zinc-activated ligand-gated ion channel # RefSeq NP_851321 NM_180990.3. [Q401N2-1] # SEQUENCE CAUTION Sequence=AAI10598.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAO20969.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; Sequence=EAW89365.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; # SIMILARITY Belongs to the ligand-gated ion channel (TC 1.A.9) family. {ECO 0000305}. # SUBCELLULAR LOCATION ZACN_HUMAN Cell membrane {ECO 0000269|PubMed 16083862}; Multi-pass membrane protein {ECO 0000269|PubMed 16083862}. # SUPFAM SSF63712 SSF63712 # SUPFAM SSF90112 SSF90112 # TCDB 1.A.9.11 the neurotransmitter receptor, cys loop, ligand-gated ion channel (lic) family # TISSUE SPECIFICITY ZACN_HUMAN Detected in pancreas, brain, liver, placenta, trachea, kidney, spinal cord, stomach and fetal brain. In the adult brain region expression is detected in the hippocampus, striatum, amygdala and thalamus. {ECO 0000269|PubMed 12381728, ECO 0000269|PubMed 16083862}. # TopDownProteomics Q401N2-3 -. [Q401N2-3] # UCSC uc002jqn human. [Q401N2-1] # eggNOG ENOG410IKFM Eukaryota # eggNOG ENOG4111421 LUCA BLAST swissprot:ZACN_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ZACN_HUMAN COXPRESdb 353174 http://coxpresdb.jp/data/gene/353174.shtml CleanEx HS_ZACN http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ZACN DOI 10.1016/j.bbrc.2005.07.079 http://dx.doi.org/10.1016/j.bbrc.2005.07.079 DOI 10.1038/nature04689 http://dx.doi.org/10.1038/nature04689 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.M208814200 http://dx.doi.org/10.1074/jbc.M208814200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AB223030 http://www.ebi.ac.uk/ena/data/view/AB223030 EMBL AC018665 http://www.ebi.ac.uk/ena/data/view/AC018665 EMBL AF512521 http://www.ebi.ac.uk/ena/data/view/AF512521 EMBL AK122638 http://www.ebi.ac.uk/ena/data/view/AK122638 EMBL BC110596 http://www.ebi.ac.uk/ena/data/view/BC110596 EMBL BC110597 http://www.ebi.ac.uk/ena/data/view/BC110597 EMBL CH471099 http://www.ebi.ac.uk/ena/data/view/CH471099 EMBL CH471099 http://www.ebi.ac.uk/ena/data/view/CH471099 Ensembl ENST00000334586 http://www.ensembl.org/id/ENST00000334586 Ensembl ENST00000421794 http://www.ensembl.org/id/ENST00000421794 Ensembl ENST00000425015 http://www.ensembl.org/id/ENST00000425015 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0004993 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004993 GO_function GO:0005232 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005232 GO_function GO:0008270 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008270 GO_function GO:0015276 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015276 GO_process GO:0007210 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007210 GO_process GO:0010043 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010043 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.20.120.370 http://www.cathdb.info/version/latest/superfamily/1.20.120.370 Gene3D 2.70.170.10 http://www.cathdb.info/version/latest/superfamily/2.70.170.10 GeneCards ZACN http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ZACN GeneID 353174 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=353174 GeneTree ENSGT00790000122957 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00790000122957 H-InvDB HIX0027141 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0027141 HGNC HGNC:29504 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:29504 HOGENOM HOG000155757 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000155757&db=HOGENOM6 HOVERGEN HBG108756 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG108756&db=HOVERGEN InParanoid Q401N2 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q401N2 InterPro IPR006029 http://www.ebi.ac.uk/interpro/entry/IPR006029 InterPro IPR006201 http://www.ebi.ac.uk/interpro/entry/IPR006201 InterPro IPR006202 http://www.ebi.ac.uk/interpro/entry/IPR006202 InterPro IPR018000 http://www.ebi.ac.uk/interpro/entry/IPR018000 InterPro IPR027361 http://www.ebi.ac.uk/interpro/entry/IPR027361 Jabion 353174 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=353174 KEGG_Gene hsa:353174 http://www.genome.jp/dbget-bin/www_bget?hsa:353174 MIM 610935 http://www.ncbi.nlm.nih.gov/omim/610935 OMA LVPCFQV http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=LVPCFQV OrthoDB EOG091G0CPT http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0CPT PANTHER PTHR18945 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR18945 PROSITE PS00236 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00236 PSORT swissprot:ZACN_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ZACN_HUMAN PSORT-B swissprot:ZACN_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ZACN_HUMAN PSORT2 swissprot:ZACN_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ZACN_HUMAN Pfam PF02931 http://pfam.xfam.org/family/PF02931 PharmGKB PA162409377 http://www.pharmgkb.org/do/serve?objId=PA162409377&objCls=Gene Phobius swissprot:ZACN_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ZACN_HUMAN PhylomeDB Q401N2 http://phylomedb.org/?seqid=Q401N2 ProteinModelPortal Q401N2 http://www.proteinmodelportal.org/query/uniprot/Q401N2 PubMed 12381728 http://www.ncbi.nlm.nih.gov/pubmed/12381728 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16083862 http://www.ncbi.nlm.nih.gov/pubmed/16083862 PubMed 16625196 http://www.ncbi.nlm.nih.gov/pubmed/16625196 RefSeq NP_851321 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_851321 STRING 9606.ENSP00000334854 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000334854&targetmode=cogs SUPFAM SSF63712 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF63712 SUPFAM SSF90112 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF90112 TCDB 1.A.9.11 http://www.tcdb.org/search/result.php?tc=1.A.9.11 UCSC uc002jqn http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002jqn&org=rat UniGene Hs.714919 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.714919 UniProtKB ZACN_HUMAN http://www.uniprot.org/uniprot/ZACN_HUMAN UniProtKB-AC Q401N2 http://www.uniprot.org/uniprot/Q401N2 charge swissprot:ZACN_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ZACN_HUMAN eggNOG ENOG410IKFM http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IKFM eggNOG ENOG4111421 http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111421 epestfind swissprot:ZACN_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ZACN_HUMAN garnier swissprot:ZACN_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ZACN_HUMAN helixturnhelix swissprot:ZACN_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ZACN_HUMAN hmoment swissprot:ZACN_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ZACN_HUMAN iep swissprot:ZACN_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ZACN_HUMAN inforesidue swissprot:ZACN_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ZACN_HUMAN neXtProt NX_Q401N2 http://www.nextprot.org/db/entry/NX_Q401N2 octanol swissprot:ZACN_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ZACN_HUMAN pepcoil swissprot:ZACN_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ZACN_HUMAN pepdigest swissprot:ZACN_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ZACN_HUMAN pepinfo swissprot:ZACN_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ZACN_HUMAN pepnet swissprot:ZACN_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ZACN_HUMAN pepstats swissprot:ZACN_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ZACN_HUMAN pepwheel swissprot:ZACN_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ZACN_HUMAN pepwindow swissprot:ZACN_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ZACN_HUMAN sigcleave swissprot:ZACN_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ZACN_HUMAN ## Database ID URL or Descriptions # AltName S10A6_HUMAN Calcyclin # AltName S10A6_HUMAN Growth factor-inducible protein 2A9 # AltName S10A6_HUMAN MLN 4 # AltName S10A6_HUMAN Prolactin receptor-associated protein # AltName S10A6_HUMAN S100 calcium-binding protein A6 # BioGrid 112185 28 # ChiTaRS S100A6 human # Ensembl ENST00000368719 ENSP00000357708; ENSG00000197956 # Ensembl ENST00000368720 ENSP00000357709; ENSG00000197956 # Ensembl ENST00000496817 ENSP00000473589; ENSG00000197956 # ExpressionAtlas P06703 baseline and differential # FUNCTION S10A6_HUMAN May function as calcium sensor and modulator, contributing to cellular calcium signaling. May function by interacting with other proteins, such as TPR-containing proteins, and indirectly play a role in many physiological processes such as the reorganization of the actin cytoskeleton and in cell motility. Binds 2 calcium ions. Calcium binding is cooperative. {ECO 0000269|PubMed 22399290}. # GO_component GO:0001726 ruffle; IDA:UniProtKB. # GO_component GO:0005634 nucleus; IDA:UniProtKB. # GO_component GO:0005635 nuclear envelope; IDA:UniProtKB. # GO_component GO:0005737 cytoplasm; IDA:UniProtKB. # GO_component GO:0005829 cytosol; IDA:UniProtKB. # GO_component GO:0031234 extrinsic component of cytoplasmic side of plasma membrane; IDA:UniProtKB. # GO_component GO:0048471 perinuclear region of cytoplasm; IDA:UniProtKB. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0005509 calcium ion binding; IDA:UniProtKB. # GO_function GO:0005523 tropomyosin binding; IDA:UniProtKB. # GO_function GO:0008270 zinc ion binding; IEA:Ensembl. # GO_function GO:0015075 ion transmembrane transporter activity; IEA:Ensembl. # GO_function GO:0042803 protein homodimerization activity; IDA:UniProtKB. # GO_function GO:0044548 S100 protein binding; IPI:UniProtKB. # GO_function GO:0048306 calcium-dependent protein binding; IDA:UniProtKB. # GO_process GO:0007165 signal transduction; TAS:UniProtKB. # GO_process GO:0007409 axonogenesis; NAS:UniProtKB. # GO_process GO:0048146 positive regulation of fibroblast proliferation; NAS:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005635 nuclear envelope # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005829 cytosol # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0008092 cytoskeletal protein binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # Gene3D 1.10.238.10 -; 1. # Genevisible P06703 HS # HGNC HGNC:10496 S100A6 # INDUCTION S10A6_HUMAN Preferentially expressed when quiescent fibroblasts are stimulated to proliferate. It is inducible by growth factors and overexpressed in acute myeloid leukemias. # INTERACTION S10A6_HUMAN Q02790 FKBP4; NbExp=3; IntAct=EBI-352877, EBI-1047444; P52292 KPNA2; NbExp=3; IntAct=EBI-352877, EBI-349938; Q00987 MDM2; NbExp=2; IntAct=EBI-352877, EBI-389668; P50542 PEX5; NbExp=3; IntAct=EBI-352877, EBI-597835; P26882 PPID (xeno); NbExp=3; IntAct=EBI-352877, EBI-6477155; P04271 S100B; NbExp=5; IntAct=EBI-352877, EBI-458391; # IntAct P06703 18 # InterPro IPR001751 S100/CaBP-9k_CS # InterPro IPR002048 EF_hand_dom # InterPro IPR011992 EF-hand-dom_pair # InterPro IPR013787 S100_Ca-bd_sub # InterPro IPR018247 EF_Hand_1_Ca_BS # MIM 114110 gene # MISCELLANEOUS S10A6_HUMAN This protein co-purified with the prolactin receptor. # Organism S10A6_HUMAN Homo sapiens (Human) # PDB 1K8U X-ray; 1.15 A; A=1-90 # PDB 1K96 X-ray; 1.44 A; A=1-90 # PDB 1K9K X-ray; 1.76 A; A/B=1-90 # PDB 1K9P X-ray; 1.90 A; A=1-90 # PDB 2M1K NMR; -; B/D=1-90 # PDB 4YBH X-ray; 2.40 A; B=1-90 # PIR A28363 BCHUY # PROSITE PS00018 EF_HAND_1 # PROSITE PS00303 S100_CABP # PROSITE PS50222 EF_HAND_2 # PTM S10A6_HUMAN The N-terminus is blocked. # Pfam PF01023 S_100 # Proteomes UP000005640 Chromosome 1 # RecName S10A6_HUMAN Protein S100-A6 # RefSeq NP_055439 NM_014624.3 # RefSeq XP_016857522 XM_017002033.1 # SIMILARITY Belongs to the S-100 family. {ECO 0000305}. # SIMILARITY Contains 2 EF-hand domains. {ECO:0000255|PROSITE- ProRule PRU00448}. # SMART SM00054 EFh # SMART SM01394 S_100 # SUBCELLULAR LOCATION S10A6_HUMAN Nucleus envelope. Cytoplasm. Cell membrane; Peripheral membrane protein; Cytoplasmic side. # SUBUNIT S10A6_HUMAN Homodimer; head to tail assembly of 2 subunits. Interacts with CACYBP in a calcium-dependent manner. Interacts with ANXA2 and ANXA11 (via N-terminus). Interacts with SUGT1. Interacts with TP53; has higher affinity for TP53 that is phosphorylated on its N-terminal domain, and lower affinity for TP53 that is phosphorylated on its C-terminal domain. Interacts with tropomyosin. Interacts with FKBP4. Interacts with PPP5C (via TPR repeats); the interaction is calcium-dependent and modulates PPP5C activity. {ECO 0000269|PubMed 11937060, ECO 0000269|PubMed 12746458, ECO 0000269|PubMed 19724273, ECO 0000269|PubMed 19819244, ECO 0000269|PubMed 20188096, ECO 0000269|PubMed 22399290}. # SUPFAM SSF47473 SSF47473 # UCSC uc001fbw human # eggNOG ENOG410IYT5 Eukaryota # eggNOG ENOG410Z6I6 LUCA BLAST swissprot:S10A6_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S10A6_HUMAN BioCyc ZFISH:G66-33816-MONOMER http://biocyc.org/getid?id=ZFISH:G66-33816-MONOMER COXPRESdb 6277 http://coxpresdb.jp/data/gene/6277.shtml CleanEx HS_S100A6 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_S100A6 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1016/0006-291X(89)92166-9 http://dx.doi.org/10.1016/0006-291X(89)92166-9 DOI 10.1016/0006-291X(92)90216-8 http://dx.doi.org/10.1016/0006-291X(92)90216-8 DOI 10.1016/S0969-2126(02)00740-2 http://dx.doi.org/10.1016/S0969-2126(02)00740-2 DOI 10.1016/j.febslet.2010.02.055 http://dx.doi.org/10.1016/j.febslet.2010.02.055 DOI 10.1016/j.jmb.2009.10.002 http://dx.doi.org/10.1016/j.jmb.2009.10.002 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1038/sj.bjc.6605289 http://dx.doi.org/10.1038/sj.bjc.6605289 DOI 10.1074/jbc.M111.329771 http://dx.doi.org/10.1074/jbc.M111.329771 DOI 10.1074/jbc.M211518200 http://dx.doi.org/10.1074/jbc.M211518200 DOI 10.1074/jbc.M212669200 http://dx.doi.org/10.1074/jbc.M212669200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1175371 http://dx.doi.org/10.1126/science.1175371 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AY034480 http://www.ebi.ac.uk/ena/data/view/AY034480 EMBL BC001431 http://www.ebi.ac.uk/ena/data/view/BC001431 EMBL BC009017 http://www.ebi.ac.uk/ena/data/view/BC009017 EMBL BT006965 http://www.ebi.ac.uk/ena/data/view/BT006965 EMBL BX470102 http://www.ebi.ac.uk/ena/data/view/BX470102 EMBL CH471121 http://www.ebi.ac.uk/ena/data/view/CH471121 EMBL CH471121 http://www.ebi.ac.uk/ena/data/view/CH471121 EMBL CH471121 http://www.ebi.ac.uk/ena/data/view/CH471121 EMBL CH471121 http://www.ebi.ac.uk/ena/data/view/CH471121 EMBL CH471121 http://www.ebi.ac.uk/ena/data/view/CH471121 EMBL CH471121 http://www.ebi.ac.uk/ena/data/view/CH471121 EMBL CH471121 http://www.ebi.ac.uk/ena/data/view/CH471121 EMBL CH471121 http://www.ebi.ac.uk/ena/data/view/CH471121 EMBL J02763 http://www.ebi.ac.uk/ena/data/view/J02763 EMBL M14300 http://www.ebi.ac.uk/ena/data/view/M14300 EMBL M18981 http://www.ebi.ac.uk/ena/data/view/M18981 Ensembl ENST00000368719 http://www.ensembl.org/id/ENST00000368719 Ensembl ENST00000368720 http://www.ensembl.org/id/ENST00000368720 Ensembl ENST00000496817 http://www.ensembl.org/id/ENST00000496817 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0001726 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001726 GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005635 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005635 GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0031234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031234 GO_component GO:0048471 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048471 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0005509 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005509 GO_function GO:0005523 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005523 GO_function GO:0008270 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008270 GO_function GO:0015075 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015075 GO_function GO:0042803 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042803 GO_function GO:0044548 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044548 GO_function GO:0048306 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048306 GO_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GO_process GO:0007409 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007409 GO_process GO:0048146 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048146 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_component GO:0005635 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005635 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0008092 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008092 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 Gene3D 1.10.238.10 http://www.cathdb.info/version/latest/superfamily/1.10.238.10 GeneCards S100A6 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=S100A6 GeneID 6277 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6277 GeneTree ENSGT00760000119034 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119034 HGNC HGNC:10496 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10496 HOGENOM HOG000246968 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000246968&db=HOGENOM6 HOVERGEN HBG001479 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG001479&db=HOVERGEN HPA CAB002601 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB002601 HPA CAB040549 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB040549 HPA HPA007575 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA007575 InParanoid P06703 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P06703 IntAct P06703 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P06703* InterPro IPR001751 http://www.ebi.ac.uk/interpro/entry/IPR001751 InterPro IPR002048 http://www.ebi.ac.uk/interpro/entry/IPR002048 InterPro IPR011992 http://www.ebi.ac.uk/interpro/entry/IPR011992 InterPro IPR013787 http://www.ebi.ac.uk/interpro/entry/IPR013787 InterPro IPR018247 http://www.ebi.ac.uk/interpro/entry/IPR018247 Jabion 6277 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6277 KEGG_Gene hsa:6277 http://www.genome.jp/dbget-bin/www_bget?hsa:6277 MIM 114110 http://www.ncbi.nlm.nih.gov/omim/114110 MINT MINT-3005220 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-3005220 OMA QVVNFQE http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=QVVNFQE OrthoDB EOG091G10JX http://cegg.unige.ch/orthodb/results?searchtext=EOG091G10JX PDB 1K8U http://www.ebi.ac.uk/pdbe-srv/view/entry/1K8U PDB 1K96 http://www.ebi.ac.uk/pdbe-srv/view/entry/1K96 PDB 1K9K http://www.ebi.ac.uk/pdbe-srv/view/entry/1K9K PDB 1K9P http://www.ebi.ac.uk/pdbe-srv/view/entry/1K9P PDB 2M1K http://www.ebi.ac.uk/pdbe-srv/view/entry/2M1K PDB 4YBH http://www.ebi.ac.uk/pdbe-srv/view/entry/4YBH PDBsum 1K8U http://www.ebi.ac.uk/pdbsum/1K8U PDBsum 1K96 http://www.ebi.ac.uk/pdbsum/1K96 PDBsum 1K9K http://www.ebi.ac.uk/pdbsum/1K9K PDBsum 1K9P http://www.ebi.ac.uk/pdbsum/1K9P PDBsum 2M1K http://www.ebi.ac.uk/pdbsum/2M1K PDBsum 4YBH http://www.ebi.ac.uk/pdbsum/4YBH PROSITE PS00018 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00018 PROSITE PS00303 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00303 PROSITE PS50222 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50222 PSORT swissprot:S10A6_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S10A6_HUMAN PSORT-B swissprot:S10A6_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S10A6_HUMAN PSORT2 swissprot:S10A6_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S10A6_HUMAN Pfam PF01023 http://pfam.xfam.org/family/PF01023 PharmGKB PA34908 http://www.pharmgkb.org/do/serve?objId=PA34908&objCls=Gene Phobius swissprot:S10A6_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S10A6_HUMAN PhylomeDB P06703 http://phylomedb.org/?seqid=P06703 ProteinModelPortal P06703 http://www.proteinmodelportal.org/query/uniprot/P06703 PubMed 11937060 http://www.ncbi.nlm.nih.gov/pubmed/11937060 PubMed 12601007 http://www.ncbi.nlm.nih.gov/pubmed/12601007 PubMed 12746458 http://www.ncbi.nlm.nih.gov/pubmed/12746458 PubMed 1482346 http://www.ncbi.nlm.nih.gov/pubmed/1482346 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 19608861 http://www.ncbi.nlm.nih.gov/pubmed/19608861 PubMed 19724273 http://www.ncbi.nlm.nih.gov/pubmed/19724273 PubMed 19819244 http://www.ncbi.nlm.nih.gov/pubmed/19819244 PubMed 20188096 http://www.ncbi.nlm.nih.gov/pubmed/20188096 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 22399290 http://www.ncbi.nlm.nih.gov/pubmed/22399290 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 2448309 http://www.ncbi.nlm.nih.gov/pubmed/2448309 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 2775283 http://www.ncbi.nlm.nih.gov/pubmed/2775283 PubMed 3036810 http://www.ncbi.nlm.nih.gov/pubmed/3036810 PubMed 3755724 http://www.ncbi.nlm.nih.gov/pubmed/3755724 RefSeq NP_055439 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_055439 RefSeq XP_016857522 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016857522 SMART SM00054 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00054 SMART SM01394 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM01394 SMR P06703 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P06703 STRING 9606.ENSP00000357708 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000357708&targetmode=cogs SUPFAM SSF47473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF47473 UCSC uc001fbw http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001fbw&org=rat UniGene Hs.275243 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.275243 UniProtKB S10A6_HUMAN http://www.uniprot.org/uniprot/S10A6_HUMAN UniProtKB-AC P06703 http://www.uniprot.org/uniprot/P06703 charge swissprot:S10A6_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S10A6_HUMAN eggNOG ENOG410IYT5 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IYT5 eggNOG ENOG410Z6I6 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410Z6I6 epestfind swissprot:S10A6_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S10A6_HUMAN garnier swissprot:S10A6_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S10A6_HUMAN helixturnhelix swissprot:S10A6_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S10A6_HUMAN hmoment swissprot:S10A6_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S10A6_HUMAN iep swissprot:S10A6_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S10A6_HUMAN inforesidue swissprot:S10A6_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S10A6_HUMAN neXtProt NX_P06703 http://www.nextprot.org/db/entry/NX_P06703 octanol swissprot:S10A6_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S10A6_HUMAN pepcoil swissprot:S10A6_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S10A6_HUMAN pepdigest swissprot:S10A6_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S10A6_HUMAN pepinfo swissprot:S10A6_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S10A6_HUMAN pepnet swissprot:S10A6_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S10A6_HUMAN pepstats swissprot:S10A6_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S10A6_HUMAN pepwheel swissprot:S10A6_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S10A6_HUMAN pepwindow swissprot:S10A6_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S10A6_HUMAN sigcleave swissprot:S10A6_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S10A6_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS ASIC1_HUMAN Event=Alternative splicing; Named isoforms=3; Comment=The splice variant from ASIC1a described in mouse and rat, which gives rise to an isoform with different N-termini (Asic1b), does not seem to exist in human.; Name=2; Synonyms=Asic1a; IsoId=P78348-2; Sequence=Displayed; Name=1; IsoId=P78348-1; Sequence=VSP_015596; Name=3; IsoId=P78348-3; Sequence=VSP_045298; # AltName ASIC1_HUMAN Amiloride-sensitive cation channel 2, neuronal # AltName ASIC1_HUMAN Brain sodium channel 2 # BioGrid 106559 12 # CCDS CCDS44876 -. [P78348-2] # CCDS CCDS58228 -. [P78348-3] # CCDS CCDS8796 -. [P78348-1] # DOMAIN ASIC1_HUMAN Channel opening involves a conformation change that affects primarily the extracellular domain and the second transmembrane helix and its orientation in the membrane. In the open state, the second transmembrane helix is nearly perpendicular to the plane of the membrane; in the desensitized state it is strongly tilted. Besides, the second transmembrane domain is discontinuously helical in the open state. The GAS motif of the selectivity filter is in an extended conformation, giving rise to a distinct kink in the polypeptide chain. A domain swap between subunits gives rise to a full-length transmembrane helix (By similarity). {ECO 0000250}. # DrugBank DB00586 Diclofenac # DrugBank DB00594 Amiloride # ENZYME REGULATION Inhibited by the diuretic amiloride. Inhibited by Cs(1+) ions. Inhibited by spider venom psalmotoxin 1; this locks the channel into its desensitized conformation. {ECO:0000269|PubMed 22760635}. # Ensembl ENST00000228468 ENSP00000228468; ENSG00000110881. [P78348-1] # Ensembl ENST00000447966 ENSP00000400228; ENSG00000110881. [P78348-2] # Ensembl ENST00000552438 ENSP00000450247; ENSG00000110881. [P78348-3] # ExpressionAtlas P78348 baseline and differential # FUNCTION ASIC1_HUMAN Isoform 1 does not display proton-gated cation channel activity. {ECO 0000269|PubMed 22760635}. # FUNCTION ASIC1_HUMAN Isoform 2 and isoform 3 function as proton-gated sodium channels; they are activated by a drop of the extracellular pH and then become rapidly desensitized. The channel generates a biphasic current with a fast inactivating and a slow sustained phase. Has high selectivity for sodium ions and can also transport lithium ions with high efficiency. Isoform 2 can also transport potassium, but with lower efficiency. It is nearly impermeable to the larger rubidium and cesium ions. Isoform 3 can also transport calcium ions. Mediates glutamate-independent Ca(2+) entry into neurons upon acidosis. This Ca(2+) overloading is toxic for cortical neurons and may be in part responsible for ischemic brain injury. Heteromeric channel assembly seems to modulate channel properties. Functions as a postsynaptic proton receptor that influences intracellular Ca(2+) concentration and calmodulin-dependent protein kinase II phosphorylation and thereby the density of dendritic spines. Modulates activity in the circuits underlying innate fear. {ECO 0000269|PubMed 22760635}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IMP:UniProtKB. # GO_component GO:0009986 cell surface; IEA:Ensembl. # GO_component GO:0045202 synapse; IEA:Ensembl. # GO_function GO:0015280 ligand-gated sodium channel activity; TAS:ProtInc. # GO_function GO:0022839 ion gated channel activity; IEA:Ensembl. # GO_function GO:0044736 acid-sensing ion channel activity; IDA:UniProtKB. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0006814 sodium ion transport; NAS:UniProtKB. # GO_process GO:0007165 signal transduction; TAS:ProtInc. # GO_process GO:0007613 memory; IEA:Ensembl. # GO_process GO:0008306 associative learning; IEA:Ensembl. # GO_process GO:0009268 response to pH; TAS:ProtInc. # GO_process GO:0010447 response to acidic pH; IEA:Ensembl. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0035725 sodium ion transmembrane transport; IDA:UniProtKB. # GO_process GO:0042391 regulation of membrane potential; IEA:Ensembl. # GO_process GO:0046929 negative regulation of neurotransmitter secretion; IEA:Ensembl. # GO_process GO:0050915 sensory perception of sour taste; IMP:UniProtKB. # GO_process GO:0070207 protein homotrimerization; ISS:UniProtKB. # GO_process GO:0070588 calcium ion transmembrane transport; IEA:Ensembl. # GO_process GO:0071467 cellular response to pH; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0050877 neurological system process # GOslim_process GO:0055085 transmembrane transport # Genevisible P78348 HS # HGNC HGNC:100 ASIC1 # INTERACTION ASIC1_HUMAN Q9NRD5 PICK1; NbExp=3; IntAct=EBI-79189, EBI-79165; # IntAct P78348 2 # InterPro IPR001873 Na+channel_ASC # InterPro IPR004724 ENaC # InterPro IPR020903 Na+channel_ASC_CS # KEGG_Brite ko04040 Ion channels # MIM 602866 gene # MISCELLANEOUS Potentiated by Ca(2+), Mg(2+), Ba(2+) and multivalent cations. Inhibited by anti-inflammatory drugs like salicylic acid (By similarity). Potentiated by FMRFamide-related neuropeptides. PH dependence may be regulated by serine proteases. {ECO 0000250}. # Organism ASIC1_HUMAN Homo sapiens (Human) # PANTHER PTHR11690 PTHR11690 # PRINTS PR01078 AMINACHANNEL # PROSITE PS01206 ASC # PTM ASIC1_HUMAN Phosphorylation by PKA regulates interaction with PRKCABP and subcellular location. Phosphorylation by PKC may regulate the channel. {ECO 0000269|PubMed 12244121, ECO 0000269|PubMed 12578970}. # Pfam PF00858 ASC # Proteomes UP000005640 Chromosome 12 # Reactome R-HSA-2672351 Stimuli-sensing channels # RecName ASIC1_HUMAN Acid-sensing ion channel 1 # RefSeq NP_001086 NM_001095.3. [P78348-2] # RefSeq NP_001243759 NM_001256830.1. [P78348-3] # RefSeq NP_064423 NM_020039.3. [P78348-1] # SIMILARITY Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family. ASIC1 subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION ASIC1_HUMAN Cell membrane {ECO 0000269|PubMed 12578970, ECO 0000269|PubMed 21036899, ECO 0000269|PubMed 22760635}; Multi- pass membrane protein {ECO 0000269|PubMed 12578970, ECO 0000269|PubMed 21036899, ECO 0000269|PubMed 22760635}. Note=Localizes in synaptosomes at dendritic synapses of neurons. Colocalizes with DLG4 (By similarity). {ECO 0000250}. # SUBUNIT ASIC1_HUMAN Homotrimer or heterotrimer with other ASIC proteins (By similarity). Interacts with STOM and ASIC2 (By similarity). Interacts with PRKCABP. Interacts with spider venom psalmotoxin 1. {ECO 0000250, ECO 0000269|PubMed 11802773, ECO 0000269|PubMed 12578970, ECO 0000269|PubMed 22760635}. # TIGRFAMs TIGR00859 ENaC # TISSUE SPECIFICITY ASIC1_HUMAN Expressed in most or all neurons. # UCSC uc001rvv human. [P78348-2] BLAST swissprot:ASIC1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ASIC1_HUMAN BioCyc ZFISH:ENSG00000110881-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000110881-MONOMER COXPRESdb 41 http://coxpresdb.jp/data/gene/41.shtml CleanEx HS_ACCN2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ACCN2 DOI 10.1016/S0896-6273(00)81144-7 http://dx.doi.org/10.1016/S0896-6273(00)81144-7 DOI 10.1038/nature04569 http://dx.doi.org/10.1038/nature04569 DOI 10.1038/ncomms1917 http://dx.doi.org/10.1038/ncomms1917 DOI 10.1042/0264-6021:3610443 http://dx.doi.org/10.1042/0264-6021:3610443 DOI 10.1073/pnas.252782799 http://dx.doi.org/10.1073/pnas.252782799 DOI 10.1073/pnas.94.4.1459 http://dx.doi.org/10.1073/pnas.94.4.1459 DOI 10.1074/jbc.M110.171330 http://dx.doi.org/10.1074/jbc.M110.171330 DOI 10.1074/jbc.M208995200 http://dx.doi.org/10.1074/jbc.M208995200 DOI 10.1074/jbc.M407381200 http://dx.doi.org/10.1074/jbc.M407381200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DrugBank DB00586 http://www.drugbank.ca/drugs/DB00586 DrugBank DB00594 http://www.drugbank.ca/drugs/DB00594 EMBL AC025154 http://www.ebi.ac.uk/ena/data/view/AC025154 EMBL BC013891 http://www.ebi.ac.uk/ena/data/view/BC013891 EMBL BC133707 http://www.ebi.ac.uk/ena/data/view/BC133707 EMBL CH471111 http://www.ebi.ac.uk/ena/data/view/CH471111 EMBL EU078959 http://www.ebi.ac.uk/ena/data/view/EU078959 EMBL HM991481 http://www.ebi.ac.uk/ena/data/view/HM991481 EMBL U78180 http://www.ebi.ac.uk/ena/data/view/U78180 EMBL U78181 http://www.ebi.ac.uk/ena/data/view/U78181 Ensembl ENST00000228468 http://www.ensembl.org/id/ENST00000228468 Ensembl ENST00000447966 http://www.ensembl.org/id/ENST00000447966 Ensembl ENST00000552438 http://www.ensembl.org/id/ENST00000552438 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0009986 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009986 GO_component GO:0045202 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045202 GO_function GO:0015280 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015280 GO_function GO:0022839 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022839 GO_function GO:0044736 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044736 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0006814 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006814 GO_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GO_process GO:0007613 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007613 GO_process GO:0008306 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008306 GO_process GO:0009268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009268 GO_process GO:0010447 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010447 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0035725 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035725 GO_process GO:0042391 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042391 GO_process GO:0046929 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046929 GO_process GO:0050915 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050915 GO_process GO:0070207 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070207 GO_process GO:0070588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070588 GO_process GO:0071467 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071467 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards ASIC1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ASIC1 GeneID 41 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=41 GeneTree ENSGT00760000119120 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119120 HGNC HGNC:100 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:100 HOGENOM HOG000247010 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000247010&db=HOGENOM6 HOVERGEN HBG004150 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG004150&db=HOVERGEN HPA HPA065870 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA065870 InParanoid P78348 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P78348 IntAct P78348 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P78348* InterPro IPR001873 http://www.ebi.ac.uk/interpro/entry/IPR001873 InterPro IPR004724 http://www.ebi.ac.uk/interpro/entry/IPR004724 InterPro IPR020903 http://www.ebi.ac.uk/interpro/entry/IPR020903 Jabion 41 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=41 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:41 http://www.genome.jp/dbget-bin/www_bget?hsa:41 KEGG_Orthology KO:K04829 http://www.genome.jp/dbget-bin/www_bget?KO:K04829 MIM 602866 http://www.ncbi.nlm.nih.gov/omim/602866 OMA PLGDIWG http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=PLGDIWG OrthoDB EOG091G053J http://cegg.unige.ch/orthodb/results?searchtext=EOG091G053J PANTHER PTHR11690 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11690 PRINTS PR01078 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01078 PROSITE PS01206 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS01206 PSORT swissprot:ASIC1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ASIC1_HUMAN PSORT-B swissprot:ASIC1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ASIC1_HUMAN PSORT2 swissprot:ASIC1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ASIC1_HUMAN Pfam PF00858 http://pfam.xfam.org/family/PF00858 PharmGKB PA24434 http://www.pharmgkb.org/do/serve?objId=PA24434&objCls=Gene Phobius swissprot:ASIC1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ASIC1_HUMAN PhylomeDB P78348 http://phylomedb.org/?seqid=P78348 ProteinModelPortal P78348 http://www.proteinmodelportal.org/query/uniprot/P78348 PubMed 10798398 http://www.ncbi.nlm.nih.gov/pubmed/10798398 PubMed 11802773 http://www.ncbi.nlm.nih.gov/pubmed/11802773 PubMed 12244121 http://www.ncbi.nlm.nih.gov/pubmed/12244121 PubMed 12578970 http://www.ncbi.nlm.nih.gov/pubmed/12578970 PubMed 15247234 http://www.ncbi.nlm.nih.gov/pubmed/15247234 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16541075 http://www.ncbi.nlm.nih.gov/pubmed/16541075 PubMed 21036899 http://www.ncbi.nlm.nih.gov/pubmed/21036899 PubMed 22760635 http://www.ncbi.nlm.nih.gov/pubmed/22760635 PubMed 9037075 http://www.ncbi.nlm.nih.gov/pubmed/9037075 Reactome R-HSA-2672351 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2672351 RefSeq NP_001086 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001086 RefSeq NP_001243759 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001243759 RefSeq NP_064423 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_064423 SMR P78348 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P78348 TIGRFAMs TIGR00859 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00859 UCSC uc001rvv http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001rvv&org=rat UniGene Hs.274361 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.274361 UniProtKB ASIC1_HUMAN http://www.uniprot.org/uniprot/ASIC1_HUMAN UniProtKB-AC P78348 http://www.uniprot.org/uniprot/P78348 charge swissprot:ASIC1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ASIC1_HUMAN epestfind swissprot:ASIC1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ASIC1_HUMAN garnier swissprot:ASIC1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ASIC1_HUMAN helixturnhelix swissprot:ASIC1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ASIC1_HUMAN hmoment swissprot:ASIC1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ASIC1_HUMAN iep swissprot:ASIC1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ASIC1_HUMAN inforesidue swissprot:ASIC1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ASIC1_HUMAN neXtProt NX_P78348 http://www.nextprot.org/db/entry/NX_P78348 octanol swissprot:ASIC1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ASIC1_HUMAN pepcoil swissprot:ASIC1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ASIC1_HUMAN pepdigest swissprot:ASIC1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ASIC1_HUMAN pepinfo swissprot:ASIC1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ASIC1_HUMAN pepnet swissprot:ASIC1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ASIC1_HUMAN pepstats swissprot:ASIC1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ASIC1_HUMAN pepwheel swissprot:ASIC1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ASIC1_HUMAN pepwindow swissprot:ASIC1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ASIC1_HUMAN sigcleave swissprot:ASIC1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ASIC1_HUMAN ## Database ID URL or Descriptions # AltName CX7B2_HUMAN Cytochrome c oxidase polypeptide VIIb2 # CDD cd01403 Cyt_c_Oxidase_VIIb # Ensembl ENST00000355591 ENSP00000347799; ENSG00000170516 # Ensembl ENST00000396533 ENSP00000379784; ENSG00000170516 # ExpressionAtlas Q8TF08 baseline and differential # FUNCTION CX7B2_HUMAN This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport. # GO_component GO:0005739 mitochondrion; IBA:GO_Central. # GO_component GO:0005746 mitochondrial respiratory chain; IEA:InterPro. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0045277 respiratory chain complex IV; IBA:GO_Central. # GO_function GO:0004129 cytochrome-c oxidase activity; IEA:InterPro. # GO_process GO:1902600 hydrogen ion transmembrane transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005739 mitochondrion # GOslim_component GO:0043234 protein complex # GOslim_function GO:0016491 oxidoreductase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0055085 transmembrane transport # Gene3D 4.10.51.10 -; 1. # Genevisible Q8TF08 HS # HGNC HGNC:24381 COX7B2 # InterPro IPR008433 Cyt_c_oxidase_suVIIB # InterPro IPR023272 Cyt_c_oxidase_suVIIB_dom # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Pathway ko00190 Oxidative phosphorylation # KEGG_Pathway ko04260 Cardiac muscle contraction # KEGG_Pathway ko05010 Alzheimer's disease # KEGG_Pathway ko05012 Parkinson's disease # KEGG_Pathway ko05016 Huntington's disease # MIM 609811 gene # Organism CX7B2_HUMAN Homo sapiens (Human) # PANTHER PTHR16716 PTHR16716 # Pfam PF05392 COX7B # Proteomes UP000005640 Chromosome 4 # RecName CX7B2_HUMAN Cytochrome c oxidase subunit 7B2, mitochondrial # RefSeq NP_570972 NM_130902.2 # RefSeq XP_005248113 XM_005248056.4 # RefSeq XP_011511932 XM_011513630.2 # RefSeq XP_011511933 XM_011513631.2 # RefSeq XP_011511934 XM_011513632.2 # RefSeq XP_011511935 XM_011513633.2 # RefSeq XP_011511936 XM_011513634.2 # RefSeq XP_011511937 XM_011513635.2 # RefSeq XP_011511938 XM_011513636.1 # RefSeq XP_011511939 XM_011513637.2 # RefSeq XP_011511940 XM_011513638.2 # SEQUENCE CAUTION Sequence=AAH35923.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAI07856.1; Type=Erroneous initiation; Evidence={ECO 0000305}; Sequence=AAL75946.1; Type=Erroneous initiation; Evidence={ECO:0000305}; # SIMILARITY Belongs to the cytochrome c oxidase VIIb family. {ECO 0000305}. # SUBCELLULAR LOCATION CX7B2_HUMAN Mitochondrion inner membrane {ECO 0000250}. # SUPFAM SSF81423 SSF81423 # TCDB 3.D.4.11 the proton-translocating cytochrome oxidase (cox) superfamily # UCSC uc003gxf human # eggNOG ENOG410J3GK Eukaryota # eggNOG ENOG4112BN9 LUCA BLAST swissprot:CX7B2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CX7B2_HUMAN BioCyc ZFISH:HS15893-MONOMER http://biocyc.org/getid?id=ZFISH:HS15893-MONOMER COXPRESdb 170712 http://coxpresdb.jp/data/gene/170712.shtml CleanEx HS_COX7B2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_COX7B2 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1360/03yc0037 http://dx.doi.org/10.1360/03yc0037 EMBL AF125109 http://www.ebi.ac.uk/ena/data/view/AF125109 EMBL BC035923 http://www.ebi.ac.uk/ena/data/view/BC035923 EMBL BC107855 http://www.ebi.ac.uk/ena/data/view/BC107855 Ensembl ENST00000355591 http://www.ensembl.org/id/ENST00000355591 Ensembl ENST00000396533 http://www.ensembl.org/id/ENST00000396533 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005746 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005746 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0045277 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045277 GO_function GO:0004129 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004129 GO_process GO:1902600 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902600 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0016491 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016491 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 4.10.51.10 http://www.cathdb.info/version/latest/superfamily/4.10.51.10 GeneCards COX7B2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=COX7B2 GeneID 170712 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=170712 GeneTree ENSGT00390000012178 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000012178 HGNC HGNC:24381 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:24381 HOGENOM HOG000059529 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000059529&db=HOGENOM6 HOVERGEN HBG051092 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG051092&db=HOVERGEN InParanoid Q8TF08 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8TF08 InterPro IPR008433 http://www.ebi.ac.uk/interpro/entry/IPR008433 InterPro IPR023272 http://www.ebi.ac.uk/interpro/entry/IPR023272 Jabion 170712 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=170712 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00002 http://www.genome.jp/dbget-bin/www_bget?ko00002 KEGG_Gene hsa:170712 http://www.genome.jp/dbget-bin/www_bget?hsa:170712 KEGG_Orthology KO:K02271 http://www.genome.jp/dbget-bin/www_bget?KO:K02271 KEGG_Pathway ko00190 http://www.genome.jp/kegg-bin/show_pathway?ko00190 KEGG_Pathway ko04260 http://www.genome.jp/kegg-bin/show_pathway?ko04260 KEGG_Pathway ko05010 http://www.genome.jp/kegg-bin/show_pathway?ko05010 KEGG_Pathway ko05012 http://www.genome.jp/kegg-bin/show_pathway?ko05012 KEGG_Pathway ko05016 http://www.genome.jp/kegg-bin/show_pathway?ko05016 MIM 609811 http://www.ncbi.nlm.nih.gov/omim/609811 OMA KHSPDFH http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=KHSPDFH OrthoDB EOG091G1342 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G1342 PANTHER PTHR16716 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR16716 PSORT swissprot:CX7B2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CX7B2_HUMAN PSORT-B swissprot:CX7B2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CX7B2_HUMAN PSORT2 swissprot:CX7B2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CX7B2_HUMAN Pfam PF05392 http://pfam.xfam.org/family/PF05392 PharmGKB PA134885922 http://www.pharmgkb.org/do/serve?objId=PA134885922&objCls=Gene Phobius swissprot:CX7B2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CX7B2_HUMAN PhylomeDB Q8TF08 http://phylomedb.org/?seqid=Q8TF08 ProteinModelPortal Q8TF08 http://www.proteinmodelportal.org/query/uniprot/Q8TF08 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15623157 http://www.ncbi.nlm.nih.gov/pubmed/15623157 RefSeq NP_570972 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_570972 RefSeq XP_005248113 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005248113 RefSeq XP_011511932 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011511932 RefSeq XP_011511933 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011511933 RefSeq XP_011511934 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011511934 RefSeq XP_011511935 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011511935 RefSeq XP_011511936 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011511936 RefSeq XP_011511937 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011511937 RefSeq XP_011511938 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011511938 RefSeq XP_011511939 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011511939 RefSeq XP_011511940 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011511940 SMR Q8TF08 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q8TF08 STRING 9606.ENSP00000305964 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000305964&targetmode=cogs SUPFAM SSF81423 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81423 TCDB 3.D.4.11 http://www.tcdb.org/search/result.php?tc=3.D.4.11 UCSC uc003gxf http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003gxf&org=rat UniGene Hs.479656 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.479656 UniProtKB CX7B2_HUMAN http://www.uniprot.org/uniprot/CX7B2_HUMAN UniProtKB-AC Q8TF08 http://www.uniprot.org/uniprot/Q8TF08 charge swissprot:CX7B2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CX7B2_HUMAN eggNOG ENOG410J3GK http://eggnogapi.embl.de/nog_data/html/tree/ENOG410J3GK eggNOG ENOG4112BN9 http://eggnogapi.embl.de/nog_data/html/tree/ENOG4112BN9 epestfind swissprot:CX7B2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CX7B2_HUMAN garnier swissprot:CX7B2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CX7B2_HUMAN helixturnhelix swissprot:CX7B2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CX7B2_HUMAN hmoment swissprot:CX7B2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CX7B2_HUMAN iep swissprot:CX7B2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CX7B2_HUMAN inforesidue swissprot:CX7B2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CX7B2_HUMAN neXtProt NX_Q8TF08 http://www.nextprot.org/db/entry/NX_Q8TF08 octanol swissprot:CX7B2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CX7B2_HUMAN pepcoil swissprot:CX7B2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CX7B2_HUMAN pepdigest swissprot:CX7B2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CX7B2_HUMAN pepinfo swissprot:CX7B2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CX7B2_HUMAN pepnet swissprot:CX7B2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CX7B2_HUMAN pepstats swissprot:CX7B2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CX7B2_HUMAN pepwheel swissprot:CX7B2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CX7B2_HUMAN pepwindow swissprot:CX7B2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CX7B2_HUMAN sigcleave swissprot:CX7B2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CX7B2_HUMAN ## Database ID URL or Descriptions # AltName AAA1_HUMAN Solute carrier family 7 member 10 # Ensembl ENST00000253188 ENSP00000253188; ENSG00000130876 # ExpressionAtlas Q9NS82 baseline and differential # FUNCTION AAA1_HUMAN Sodium-independent, high affinity transport of small neutral D- and L-amino acids. May play a role in the modulation of glutamatergic transmission through mobilization of D-serine at the glutamatergic synapse. {ECO 0000269|PubMed 10863037}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; NAS:UniProtKB. # GO_component GO:0016020 membrane; TAS:ProtInc. # GO_function GO:0015175 neutral amino acid transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0015194 L-serine transmembrane transporter activity; TAS:ProtInc. # GO_function GO:0015297 antiporter activity; IBA:GO_Central. # GO_process GO:0006865 amino acid transport; TAS:Reactome. # GO_process GO:0015804 neutral amino acid transport; IDA:UniProtKB. # GO_process GO:0042941 D-alanine transport; IBA:GO_Central. # GO_process GO:0042942 D-serine transport; IBA:GO_Central. # GO_process GO:0050900 leukocyte migration; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0002376 immune system process # GOslim_process GO:0006810 transport # GOslim_process GO:0048870 cell motility # Genevisible Q9NS82 HS # HGNC HGNC:11058 SLC7A10 # InterPro IPR002293 AA/rel_permease1 # KEGG_Brite ko02001 Solute carrier family # MIM 607959 gene # Organism AAA1_HUMAN Homo sapiens (Human) # PANTHER PTHR11785 PTHR11785 # PIRSF PIRSF006060 AA_transporter # Pfam PF13520 AA_permease_2 # Proteomes UP000005640 Chromosome 19 # Reactome R-HSA-210991 Basigin interactions # Reactome R-HSA-352230 Amino acid transport across the plasma membrane # RecName AAA1_HUMAN Asc-type amino acid transporter 1 # RefSeq NP_062823 NM_019849.2 # SIMILARITY Belongs to the amino acid-polyamine-organocation (APC) superfamily. {ECO 0000305}. # SUBCELLULAR LOCATION AAA1_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # SUBUNIT Disulfide-linked heterodimer with the amino acid transport protein SLC3A2/4F2hc. {ECO:0000250|UniProtKB Q9JMH8}. # TCDB 2.A.3.8.21 the amino acid-polyamine-organocation (apc) family # TISSUE SPECIFICITY Expressed in brain, heart, kidney, liver, lung, pancreas, placenta, and skeletal muscle. {ECO:0000269|PubMed 10863037}. # UCSC uc002num human # eggNOG COG0531 LUCA # eggNOG KOG1287 Eukaryota BLAST swissprot:AAA1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:AAA1_HUMAN BioCyc ZFISH:ENSG00000130876-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000130876-MONOMER COXPRESdb 56301 http://coxpresdb.jp/data/gene/56301.shtml CleanEx HS_SLC7A10 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC7A10 DOI 10.1006/mgme.2001.3209 http://dx.doi.org/10.1006/mgme.2001.3209 DOI 10.1016/S0304-3940(00)01169-1 http://dx.doi.org/10.1016/S0304-3940(00)01169-1 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AB037670 http://www.ebi.ac.uk/ena/data/view/AB037670 EMBL AF340155 http://www.ebi.ac.uk/ena/data/view/AF340155 EMBL AF340156 http://www.ebi.ac.uk/ena/data/view/AF340156 EMBL AF340157 http://www.ebi.ac.uk/ena/data/view/AF340157 EMBL AF340158 http://www.ebi.ac.uk/ena/data/view/AF340158 EMBL AF340159 http://www.ebi.ac.uk/ena/data/view/AF340159 EMBL AF340160 http://www.ebi.ac.uk/ena/data/view/AF340160 EMBL AF340161 http://www.ebi.ac.uk/ena/data/view/AF340161 EMBL AF340162 http://www.ebi.ac.uk/ena/data/view/AF340162 EMBL AF340163 http://www.ebi.ac.uk/ena/data/view/AF340163 EMBL AF340164 http://www.ebi.ac.uk/ena/data/view/AF340164 EMBL AF340165 http://www.ebi.ac.uk/ena/data/view/AF340165 EMBL AJ277731 http://www.ebi.ac.uk/ena/data/view/AJ277731 EMBL AK316594 http://www.ebi.ac.uk/ena/data/view/AK316594 EMBL BC035627 http://www.ebi.ac.uk/ena/data/view/BC035627 Ensembl ENST00000253188 http://www.ensembl.org/id/ENST00000253188 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_function GO:0015175 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015175 GO_function GO:0015194 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015194 GO_function GO:0015297 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015297 GO_process GO:0006865 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006865 GO_process GO:0015804 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015804 GO_process GO:0042941 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042941 GO_process GO:0042942 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042942 GO_process GO:0050900 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050900 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0002376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002376 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0048870 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048870 GeneCards SLC7A10 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC7A10 GeneID 56301 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=56301 GeneTree ENSGT00760000119037 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119037 HGNC HGNC:11058 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11058 HOGENOM HOG000098892 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000098892&db=HOGENOM6 HOVERGEN HBG000476 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG000476&db=HOVERGEN HPA HPA041884 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA041884 HPA HPA057036 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA057036 InParanoid Q9NS82 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9NS82 IntAct Q9NS82 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9NS82* InterPro IPR002293 http://www.ebi.ac.uk/interpro/entry/IPR002293 Jabion 56301 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=56301 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:56301 http://www.genome.jp/dbget-bin/www_bget?hsa:56301 KEGG_Orthology KO:K13782 http://www.genome.jp/dbget-bin/www_bget?KO:K13782 MIM 607959 http://www.ncbi.nlm.nih.gov/omim/607959 OMA TESMTHW http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=TESMTHW OrthoDB EOG091G07EM http://cegg.unige.ch/orthodb/results?searchtext=EOG091G07EM PANTHER PTHR11785 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11785 PSORT swissprot:AAA1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:AAA1_HUMAN PSORT-B swissprot:AAA1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:AAA1_HUMAN PSORT2 swissprot:AAA1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:AAA1_HUMAN Pfam PF13520 http://pfam.xfam.org/family/PF13520 PharmGKB PA35918 http://www.pharmgkb.org/do/serve?objId=PA35918&objCls=Gene Phobius swissprot:AAA1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:AAA1_HUMAN PhylomeDB Q9NS82 http://phylomedb.org/?seqid=Q9NS82 ProteinModelPortal Q9NS82 http://www.proteinmodelportal.org/query/uniprot/Q9NS82 PubMed 10863037 http://www.ncbi.nlm.nih.gov/pubmed/10863037 PubMed 11509015 http://www.ncbi.nlm.nih.gov/pubmed/11509015 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 Reactome R-HSA-210991 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-210991 Reactome R-HSA-352230 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-352230 RefSeq NP_062823 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_062823 STRING 9606.ENSP00000253188 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000253188&targetmode=cogs TCDB 2.A.3.8.21 http://www.tcdb.org/search/result.php?tc=2.A.3.8.21 UCSC uc002num http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002num&org=rat UniGene Hs.58679 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.58679 UniProtKB AAA1_HUMAN http://www.uniprot.org/uniprot/AAA1_HUMAN UniProtKB-AC Q9NS82 http://www.uniprot.org/uniprot/Q9NS82 charge swissprot:AAA1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:AAA1_HUMAN eggNOG COG0531 http://eggnogapi.embl.de/nog_data/html/tree/COG0531 eggNOG KOG1287 http://eggnogapi.embl.de/nog_data/html/tree/KOG1287 epestfind swissprot:AAA1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:AAA1_HUMAN garnier swissprot:AAA1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:AAA1_HUMAN helixturnhelix swissprot:AAA1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:AAA1_HUMAN hmoment swissprot:AAA1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:AAA1_HUMAN iep swissprot:AAA1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:AAA1_HUMAN inforesidue swissprot:AAA1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:AAA1_HUMAN neXtProt NX_Q9NS82 http://www.nextprot.org/db/entry/NX_Q9NS82 octanol swissprot:AAA1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:AAA1_HUMAN pepcoil swissprot:AAA1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:AAA1_HUMAN pepdigest swissprot:AAA1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:AAA1_HUMAN pepinfo swissprot:AAA1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:AAA1_HUMAN pepnet swissprot:AAA1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:AAA1_HUMAN pepstats swissprot:AAA1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:AAA1_HUMAN pepwheel swissprot:AAA1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:AAA1_HUMAN pepwindow swissprot:AAA1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:AAA1_HUMAN sigcleave swissprot:AAA1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:AAA1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS ABCB8_HUMAN Event=Alternative splicing; Named isoforms=5; Name=1; Synonyms=Long; IsoId=Q9NUT2-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=Q9NUT2-2; Sequence=VSP_000026; Note=No experimental confirmation available.; Name=3; IsoId=Q9NUT2-3; Sequence=VSP_000026, VSP_055297; Note=No experimental confirmation available.; Name=4; IsoId=Q9NUT2-4; Sequence=VSP_056745; Note=No experimental confirmation available.; Name=5; IsoId=Q9NUT2-5; Sequence=VSP_056744; Note=No experimental confirmation available.; # AltName ABCB8_HUMAN Mitochondrial ATP-binding cassette 1 # BRENDA 3.6.3.43 2681 # BioGrid 116364 25 # CCDS CCDS5913 -. [Q9NUT2-2] # CCDS CCDS64798 -. [Q9NUT2-4] # CCDS CCDS64799 -. [Q9NUT2-1] # CCDS CCDS64800 -. [Q9NUT2-3] # ChiTaRS ABCB8 human # DrugBank DB00997 Doxorubicin # Ensembl ENST00000297504 ENSP00000297504; ENSG00000197150. [Q9NUT2-1] # Ensembl ENST00000358849 ENSP00000351717; ENSG00000197150. [Q9NUT2-2] # Ensembl ENST00000498578 ENSP00000418271; ENSG00000197150. [Q9NUT2-3] # Ensembl ENST00000542328 ENSP00000438776; ENSG00000197150. [Q9NUT2-4] # ExpressionAtlas Q9NUT2 baseline and differential # GO_component GO:0005634 nucleus; IDA:HPA. # GO_component GO:0005730 nucleolus; IDA:HPA. # GO_component GO:0005739 mitochondrion; IDA:HPA. # GO_component GO:0005740 mitochondrial envelope; TAS:ProtInc. # GO_component GO:0005743 mitochondrial inner membrane; IEA:UniProtKB-SubCell. # GO_component GO:0016020 membrane; TAS:ProtInc. # GO_component GO:0043190 ATP-binding cassette (ABC) transporter complex; TAS:ProtInc. # GO_function GO:0005215 transporter activity; TAS:ProtInc. # GO_function GO:0005524 ATP binding; TAS:ProtInc. # GO_function GO:0042626 ATPase activity, coupled to transmembrane movement of substances; IBA:GO_Central. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0055085 transmembrane transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005730 nucleolus # GOslim_component GO:0005739 mitochondrion # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0055085 transmembrane transport # Gene3D 3.40.50.300 -; 1. # Genevisible Q9NUT2 HS # HGNC HGNC:49 ABCB8 # IntAct Q9NUT2 2 # InterPro IPR003439 ABC_transporter-like # InterPro IPR003593 AAA+_ATPase # InterPro IPR011527 ABC1_TM_dom # InterPro IPR017871 ABC_transporter_CS # InterPro IPR027417 P-loop_NTPase # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02000 Transporters # KEGG_Pathway ko02010 ABC transporters # MIM 605464 gene # Organism ABCB8_HUMAN Homo sapiens (Human) # PROSITE PS00211 ABC_TRANSPORTER_1 # PROSITE PS50893 ABC_TRANSPORTER_2 # PROSITE PS50929 ABC_TM1F # Pfam PF00005 ABC_tran # Pfam PF00664 ABC_membrane # Proteomes UP000005640 Chromosome 7 # Reactome R-HSA-1369007 Mitochondrial ABC transporters # RecName ABCB8_HUMAN ATP-binding cassette sub-family B member 8, mitochondrial # RefSeq NP_001269220 NM_001282291.1. [Q9NUT2-1] # RefSeq NP_001269221 NM_001282292.1. [Q9NUT2-3] # RefSeq NP_001269222 NM_001282293.1. [Q9NUT2-4] # RefSeq NP_009119 NM_007188.4. [Q9NUT2-2] # SIMILARITY Belongs to the ABC transporter superfamily. ABCB family. Multidrug resistance exporter (TC 3.A.1.201) subfamily. {ECO 0000305}. # SIMILARITY Contains 1 ABC transmembrane type-1 domain. {ECO:0000255|PROSITE-ProRule PRU00441}. # SIMILARITY Contains 1 ABC transporter domain. {ECO:0000255|PROSITE-ProRule PRU00434}. # SMART SM00382 AAA # SUBCELLULAR LOCATION ABCB8_HUMAN Mitochondrion inner membrane {ECO 0000269|PubMed 16259955}; Multi-pass membrane protein {ECO 0000255|PROSITE-ProRule PRU00441, ECO 0000269|PubMed 16259955}. # SUBUNIT Monomer. {ECO 0000305}. # SUPFAM SSF52540 SSF52540 # SUPFAM SSF90123 SSF90123 # TCDB 3.A.1.201.22 the atp-binding cassette (abc) superfamily # TISSUE SPECIFICITY ABCB8_HUMAN Ubiquitous. # UCSC uc003wik human. [Q9NUT2-1] # WEB RESOURCE ABCB8_HUMAN Name=ABCMdb; Note=Database for mutations in ABC proteins; URL="http //abcmutations.hegelab.org/proteinDetails?uniprot_id=Q9NUT2"; # eggNOG COG1132 LUCA # eggNOG KOG0058 Eukaryota BLAST swissprot:ABCB8_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ABCB8_HUMAN BioCyc ZFISH:G66-30982-MONOMER http://biocyc.org/getid?id=ZFISH:G66-30982-MONOMER COXPRESdb 11194 http://coxpresdb.jp/data/gene/11194.shtml CleanEx HS_ABCB8 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ABCB8 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1006/jmbi.1998.2259 http://dx.doi.org/10.1006/jmbi.1998.2259 DOI 10.1007/s10038-002-8653-6 http://dx.doi.org/10.1007/s10038-002-8653-6 DOI 10.1016/j.bbrc.2005.10.070 http://dx.doi.org/10.1016/j.bbrc.2005.10.070 DOI 10.1038/nature01782 http://dx.doi.org/10.1038/nature01782 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1133427 http://dx.doi.org/10.1126/science.1133427 DrugBank DB00997 http://www.drugbank.ca/drugs/DB00997 EMBL AC010973 http://www.ebi.ac.uk/ena/data/view/AC010973 EMBL AF047690 http://www.ebi.ac.uk/ena/data/view/AF047690 EMBL AK002018 http://www.ebi.ac.uk/ena/data/view/AK002018 EMBL AK024401 http://www.ebi.ac.uk/ena/data/view/AK024401 EMBL AK222911 http://www.ebi.ac.uk/ena/data/view/AK222911 EMBL AK294344 http://www.ebi.ac.uk/ena/data/view/AK294344 EMBL AK314721 http://www.ebi.ac.uk/ena/data/view/AK314721 EMBL BC141814 http://www.ebi.ac.uk/ena/data/view/BC141814 EMBL BC141836 http://www.ebi.ac.uk/ena/data/view/BC141836 EMBL BC151235 http://www.ebi.ac.uk/ena/data/view/BC151235 EMBL CH471173 http://www.ebi.ac.uk/ena/data/view/CH471173 EMBL CH471173 http://www.ebi.ac.uk/ena/data/view/CH471173 EMBL CH471173 http://www.ebi.ac.uk/ena/data/view/CH471173 Ensembl ENST00000297504 http://www.ensembl.org/id/ENST00000297504 Ensembl ENST00000358849 http://www.ensembl.org/id/ENST00000358849 Ensembl ENST00000498578 http://www.ensembl.org/id/ENST00000498578 Ensembl ENST00000542328 http://www.ensembl.org/id/ENST00000542328 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005730 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005730 GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005740 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005740 GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0043190 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043190 GO_function GO:0005215 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005215 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0042626 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042626 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_component GO:0005730 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005730 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 3.40.50.300 http://www.cathdb.info/version/latest/superfamily/3.40.50.300 GeneCards ABCB8 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ABCB8 GeneID 11194 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=11194 GeneTree ENSGT00550000074497 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074497 H-InvDB HIX0007220 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0007220 HGNC HGNC:49 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:49 HOVERGEN HBG008358 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG008358&db=HOVERGEN HPA HPA045187 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA045187 InParanoid Q9NUT2 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9NUT2 IntAct Q9NUT2 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9NUT2* InterPro IPR003439 http://www.ebi.ac.uk/interpro/entry/IPR003439 InterPro IPR003593 http://www.ebi.ac.uk/interpro/entry/IPR003593 InterPro IPR011527 http://www.ebi.ac.uk/interpro/entry/IPR011527 InterPro IPR017871 http://www.ebi.ac.uk/interpro/entry/IPR017871 InterPro IPR027417 http://www.ebi.ac.uk/interpro/entry/IPR027417 Jabion 11194 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=11194 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Gene hsa:11194 http://www.genome.jp/dbget-bin/www_bget?hsa:11194 KEGG_Orthology KO:K05655 http://www.genome.jp/dbget-bin/www_bget?KO:K05655 KEGG_Pathway ko02010 http://www.genome.jp/kegg-bin/show_pathway?ko02010 MIM 605464 http://www.ncbi.nlm.nih.gov/omim/605464 MINT MINT-1381060 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1381060 OMA RSWWAGH http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=RSWWAGH OrthoDB EOG091G0HVA http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0HVA PROSITE PS00211 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00211 PROSITE PS50893 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50893 PROSITE PS50929 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50929 PSORT swissprot:ABCB8_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ABCB8_HUMAN PSORT-B swissprot:ABCB8_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ABCB8_HUMAN PSORT2 swissprot:ABCB8_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ABCB8_HUMAN Pfam PF00005 http://pfam.xfam.org/family/PF00005 Pfam PF00664 http://pfam.xfam.org/family/PF00664 PharmGKB PA24390 http://www.pharmgkb.org/do/serve?objId=PA24390&objCls=Gene Phobius swissprot:ABCB8_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ABCB8_HUMAN PhylomeDB Q9NUT2 http://phylomedb.org/?seqid=Q9NUT2 ProteinModelPortal Q9NUT2 http://www.proteinmodelportal.org/query/uniprot/Q9NUT2 PubMed 11829140 http://www.ncbi.nlm.nih.gov/pubmed/11829140 PubMed 12853948 http://www.ncbi.nlm.nih.gov/pubmed/12853948 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16259955 http://www.ncbi.nlm.nih.gov/pubmed/16259955 PubMed 16959974 http://www.ncbi.nlm.nih.gov/pubmed/16959974 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 9878413 http://www.ncbi.nlm.nih.gov/pubmed/9878413 Reactome R-HSA-1369007 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1369007 RefSeq NP_001269220 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001269220 RefSeq NP_001269221 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001269221 RefSeq NP_001269222 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001269222 RefSeq NP_009119 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_009119 SMART SM00382 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00382 SMR Q9NUT2 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9NUT2 STRING 9606.ENSP00000351717 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000351717&targetmode=cogs SUPFAM SSF52540 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52540 SUPFAM SSF90123 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF90123 TCDB 3.A.1.201.22 http://www.tcdb.org/search/result.php?tc=3.A.1.201.22 UCSC uc003wik http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003wik&org=rat UniGene Hs.647118 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.647118 UniProtKB ABCB8_HUMAN http://www.uniprot.org/uniprot/ABCB8_HUMAN UniProtKB-AC Q9NUT2 http://www.uniprot.org/uniprot/Q9NUT2 charge swissprot:ABCB8_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ABCB8_HUMAN eggNOG COG1132 http://eggnogapi.embl.de/nog_data/html/tree/COG1132 eggNOG KOG0058 http://eggnogapi.embl.de/nog_data/html/tree/KOG0058 epestfind swissprot:ABCB8_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ABCB8_HUMAN garnier swissprot:ABCB8_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ABCB8_HUMAN helixturnhelix swissprot:ABCB8_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ABCB8_HUMAN hmoment swissprot:ABCB8_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ABCB8_HUMAN iep swissprot:ABCB8_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ABCB8_HUMAN inforesidue swissprot:ABCB8_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ABCB8_HUMAN neXtProt NX_Q9NUT2 http://www.nextprot.org/db/entry/NX_Q9NUT2 octanol swissprot:ABCB8_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ABCB8_HUMAN pepcoil swissprot:ABCB8_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ABCB8_HUMAN pepdigest swissprot:ABCB8_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ABCB8_HUMAN pepinfo swissprot:ABCB8_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ABCB8_HUMAN pepnet swissprot:ABCB8_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ABCB8_HUMAN pepstats swissprot:ABCB8_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ABCB8_HUMAN pepwheel swissprot:ABCB8_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ABCB8_HUMAN pepwindow swissprot:ABCB8_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ABCB8_HUMAN sigcleave swissprot:ABCB8_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ABCB8_HUMAN ## Database ID URL or Descriptions # AltName LRC8C_HUMAN Factor for adipocyte differentiation 158 # AltName LRC8C_HUMAN Leucine-rich repeat-containing protein 8C # BioGrid 123963 7 # ChiTaRS LRRC8C human # Ensembl ENST00000370454 ENSP00000359483; ENSG00000171488 # ExpressionAtlas Q8TDW0 baseline and differential # FUNCTION LRC8C_HUMAN Non-essential component of the volume-regulated anion channel (VRAC, also named VSOAC channel), an anion channel required to maintain a constant cell volume in response to extracellular or intracellular osmotic changes. The VRAC channel conducts iodide better than chloride and may also conduct organic osmolytes like taurine. Channel activity requires LRRC8A plus at least one other family member (LRRC8B, LRRC8C, LRRC8D or LRRC8E); channel characteristics depend on the precise subunit composition. {ECO 0000269|PubMed 24790029, ECO 0000269|PubMed 26824658}. # GO_component GO:0005737 cytoplasm; IDA:UniProtKB. # GO_component GO:0005789 endoplasmic reticulum membrane; IEA:UniProtKB-SubCell. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0005887 integral component of plasma membrane; IMP:UniProtKB. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_function GO:0005225 volume-sensitive anion channel activity; IMP:UniProtKB. # GO_process GO:0045444 fat cell differentiation; IEA:Ensembl. # GO_process GO:0098656 anion transmembrane transport; IMP:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0030154 cell differentiation # GOslim_process GO:0055085 transmembrane transport # Gene3D 3.80.10.10 -; 1. # Genevisible Q8TDW0 HS # HGNC HGNC:25075 LRRC8C # InterPro IPR001611 Leu-rich_rpt # InterPro IPR003591 Leu-rich_rpt_typical-subtyp # InterPro IPR021040 LRRC8_Pannexin-like # InterPro IPR026906 LRR_5 # InterPro IPR032675 L_dom-like # KEGG_Disease H00085 [Primary immunodeficiency] Leucine-rich repeat-containing 8 # MIM 612889 gene # Organism LRC8C_HUMAN Homo sapiens (Human) # PROSITE PS51450 LRR; 7 # Pfam PF12534 Pannexin_like # Pfam PF13306 LRR_5 # Pfam PF13855 LRR_8 # Proteomes UP000005640 Chromosome 1 # RecName LRC8C_HUMAN Volume-regulated anion channel subunit LRRC8C # RefSeq NP_115646 NM_032270.4 # RefSeq XP_011540584 XM_011542282.2 # RefSeq XP_016857992 XM_017002503.1 # SIMILARITY Belongs to the LRRC8 family. {ECO 0000305}. # SIMILARITY Contains 17 LRR (leucine-rich) repeats. {ECO 0000305}. # SMART SM00369 LRR_TYP; 7 # SUBCELLULAR LOCATION LRC8C_HUMAN Cell membrane {ECO 0000269|PubMed 24790029}; Multi-pass membrane protein {ECO 0000305}. Endoplasmic reticulum membrane {ECO 0000305|PubMed 24790029}. Note=In the absence of LRRC8A, resides primarily in a cytoplasmic compartment, probably the endoplasmic reticulum. Requires LRRC8A for expression at the cell membrane. {ECO 0000269|PubMed 24790029}. # SUBUNIT LRC8C_HUMAN Heterooligomer; heterooligomerizes with other LRRC8 proteins (LRRC8A, LRRC8B, LRRC8D and/or LRRC8E), possibly to form a heterohexamer (PubMed 24790029, PubMed 26824658). In vivo, the subunit composition may depend primarily on expression levels, and heterooligomeric channels containing various proportions of the different LRRC8 proteins may coexist (Probable). {ECO 0000269|PubMed 24790029, ECO 0000269|PubMed 26824658, ECO 0000305}. # SUPFAM SSF52058 SSF52058 # TCDB 1.A.25.3 the gap junction-forming innexin (innexin) family # TISSUE SPECIFICITY Expressed at highest levels in skeletal muscle, and at moderate levels in heart, lung and peripheral blood leukocytes. {ECO:0000269|PubMed 15564382}. # UCSC uc001dnl human # eggNOG COG4886 LUCA # eggNOG KOG0619 Eukaryota BLAST swissprot:LRC8C_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:LRC8C_HUMAN BioCyc ZFISH:ENSG00000171488-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000171488-MONOMER COXPRESdb 84230 http://coxpresdb.jp/data/gene/84230.shtml CleanEx HS_LRRC8C http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_LRRC8C DIP DIP-61362N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-61362N DOI 10.1002/bies.201100173 http://dx.doi.org/10.1002/bies.201100173 DOI 10.1016/j.cell.2015.12.031 http://dx.doi.org/10.1016/j.cell.2015.12.031 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1101/gr.GR1547R http://dx.doi.org/10.1101/gr.GR1547R DOI 10.1126/science.1252826 http://dx.doi.org/10.1126/science.1252826 DOI 10.1242/jcs.01546 http://dx.doi.org/10.1242/jcs.01546 EMBL AB081509 http://www.ebi.ac.uk/ena/data/view/AB081509 EMBL AC093423 http://www.ebi.ac.uk/ena/data/view/AC093423 EMBL AK127881 http://www.ebi.ac.uk/ena/data/view/AK127881 EMBL AL136919 http://www.ebi.ac.uk/ena/data/view/AL136919 EMBL BC113973 http://www.ebi.ac.uk/ena/data/view/BC113973 Ensembl ENST00000370454 http://www.ensembl.org/id/ENST00000370454 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005789 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005789 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_function GO:0005225 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005225 GO_process GO:0045444 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045444 GO_process GO:0098656 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0098656 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0030154 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030154 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 3.80.10.10 http://www.cathdb.info/version/latest/superfamily/3.80.10.10 GeneCards LRRC8C http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=LRRC8C GeneID 84230 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=84230 GeneTree ENSGT00840000129676 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00840000129676 HGNC HGNC:25075 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:25075 HOGENOM HOG000231806 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231806&db=HOGENOM6 HOVERGEN HBG052360 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052360&db=HOVERGEN HPA HPA029347 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA029347 InParanoid Q8TDW0 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8TDW0 InterPro IPR001611 http://www.ebi.ac.uk/interpro/entry/IPR001611 InterPro IPR003591 http://www.ebi.ac.uk/interpro/entry/IPR003591 InterPro IPR021040 http://www.ebi.ac.uk/interpro/entry/IPR021040 InterPro IPR026906 http://www.ebi.ac.uk/interpro/entry/IPR026906 InterPro IPR032675 http://www.ebi.ac.uk/interpro/entry/IPR032675 Jabion 84230 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=84230 KEGG_Disease H00085 http://www.genome.jp/dbget-bin/www_bget?H00085 KEGG_Gene hsa:84230 http://www.genome.jp/dbget-bin/www_bget?hsa:84230 MIM 612889 http://www.ncbi.nlm.nih.gov/omim/612889 MINT MINT-4721599 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-4721599 OMA NEWTADK http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=NEWTADK OrthoDB EOG091G01ER http://cegg.unige.ch/orthodb/results?searchtext=EOG091G01ER PROSITE PS51450 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51450 PSORT swissprot:LRC8C_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:LRC8C_HUMAN PSORT-B swissprot:LRC8C_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:LRC8C_HUMAN PSORT2 swissprot:LRC8C_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:LRC8C_HUMAN Pfam PF12534 http://pfam.xfam.org/family/PF12534 Pfam PF13306 http://pfam.xfam.org/family/PF13306 Pfam PF13855 http://pfam.xfam.org/family/PF13855 PharmGKB PA142671536 http://www.pharmgkb.org/do/serve?objId=PA142671536&objCls=Gene Phobius swissprot:LRC8C_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:LRC8C_HUMAN PhylomeDB Q8TDW0 http://phylomedb.org/?seqid=Q8TDW0 ProteinModelPortal Q8TDW0 http://www.proteinmodelportal.org/query/uniprot/Q8TDW0 PubMed 11230166 http://www.ncbi.nlm.nih.gov/pubmed/11230166 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15564382 http://www.ncbi.nlm.nih.gov/pubmed/15564382 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 22532330 http://www.ncbi.nlm.nih.gov/pubmed/22532330 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 24790029 http://www.ncbi.nlm.nih.gov/pubmed/24790029 PubMed 26824658 http://www.ncbi.nlm.nih.gov/pubmed/26824658 RefSeq NP_115646 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_115646 RefSeq XP_011540584 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011540584 RefSeq XP_016857992 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016857992 SMART SM00369 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00369 STRING 9606.ENSP00000359483 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000359483&targetmode=cogs SUPFAM SSF52058 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52058 TCDB 1.A.25.3 http://www.tcdb.org/search/result.php?tc=1.A.25.3 UCSC uc001dnl http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001dnl&org=rat UniGene Hs.412836 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.412836 UniProtKB LRC8C_HUMAN http://www.uniprot.org/uniprot/LRC8C_HUMAN UniProtKB-AC Q8TDW0 http://www.uniprot.org/uniprot/Q8TDW0 charge swissprot:LRC8C_HUMAN http://rest.g-language.org/emboss/charge/swissprot:LRC8C_HUMAN eggNOG COG4886 http://eggnogapi.embl.de/nog_data/html/tree/COG4886 eggNOG KOG0619 http://eggnogapi.embl.de/nog_data/html/tree/KOG0619 epestfind swissprot:LRC8C_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:LRC8C_HUMAN garnier swissprot:LRC8C_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:LRC8C_HUMAN helixturnhelix swissprot:LRC8C_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:LRC8C_HUMAN hmoment swissprot:LRC8C_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:LRC8C_HUMAN iep swissprot:LRC8C_HUMAN http://rest.g-language.org/emboss/iep/swissprot:LRC8C_HUMAN inforesidue swissprot:LRC8C_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:LRC8C_HUMAN neXtProt NX_Q8TDW0 http://www.nextprot.org/db/entry/NX_Q8TDW0 octanol swissprot:LRC8C_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:LRC8C_HUMAN pepcoil swissprot:LRC8C_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:LRC8C_HUMAN pepdigest swissprot:LRC8C_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:LRC8C_HUMAN pepinfo swissprot:LRC8C_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:LRC8C_HUMAN pepnet swissprot:LRC8C_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:LRC8C_HUMAN pepstats swissprot:LRC8C_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:LRC8C_HUMAN pepwheel swissprot:LRC8C_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:LRC8C_HUMAN pepwindow swissprot:LRC8C_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:LRC8C_HUMAN sigcleave swissprot:LRC8C_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:LRC8C_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=SLC2A9-L; IsoId=Q9NRM0-1; Sequence=Displayed; Name=2; Synonyms=GLUT9deltaN, SLC2A9-S; IsoId=Q9NRM0-2; Sequence=VSP_034860; Note=Variant in position: 17 A->T (in dbSNP:6820230).; # AltName GTR9_HUMAN Glucose transporter type 9 # CCDS CCDS3406 -. [Q9NRM0-2] # CCDS CCDS3407 -. [Q9NRM0-1] # CDD cd06174 MFS # DISEASE GTR9_HUMAN Hypouricemia renal 2 (RHUC2) [MIM 612076] A disorder characterized by impaired uric acid reabsorption at the apical membrane of proximal renal tubule cells, and high urinary urate excretion. Patients often appear asymptomatic, but may be subject to exercise-induced acute renal failure, chronic renal dysfunction and nephrolithiasis. {ECO 0000269|PubMed 19026395, ECO 0000269|PubMed 19926891, ECO 0000269|PubMed 21810765}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DrugBank DB00678 Losartan # DrugBank DB01032 Probenecid # Ensembl ENST00000264784 ENSP00000264784; ENSG00000109667. [Q9NRM0-1] # Ensembl ENST00000309065 ENSP00000311383; ENSG00000109667. [Q9NRM0-2] # Ensembl ENST00000506583 ENSP00000422209; ENSG00000109667. [Q9NRM0-2] # ExpressionAtlas Q9NRM0 baseline and differential # FUNCTION GTR9_HUMAN Transport urate and fructose. May have a role in the urate reabsorption by proximal tubules. Also transports glucose at low rate. {ECO 0000269|PubMed 14739288, ECO 0000269|PubMed 18327257}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0016021 integral component of membrane; NAS:UniProtKB. # GO_component GO:0016323 basolateral plasma membrane; IEA:UniProtKB-SubCell. # GO_component GO:0016324 apical plasma membrane; IEA:UniProtKB-SubCell. # GO_function GO:0005355 glucose transmembrane transporter activity; IEA:Ensembl. # GO_function GO:0015143 urate transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0022857 transmembrane transporter activity; TAS:Reactome. # GO_function GTR9_HUMAN GO 0005351 sugar proton symporter activity; NAS UniProtKB. # GO_process GO:0015758 glucose transport; NAS:UniProtKB. # GO_process GO:0046415 urate metabolic process; IMP:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0044281 small molecule metabolic process # Genevisible Q9NRM0 HS # HGNC HGNC:13446 SLC2A9 # InterPro IPR003663 Sugar/inositol_transpt # InterPro IPR005828 MFS_sugar_transport-like # InterPro IPR005829 Sugar_transporter_CS # InterPro IPR020846 MFS_dom # KEGG_Brite ko02000 Transporters # KEGG_Brite ko02001 Solute carrier family # KEGG_Disease H00948 [Urinary system disease] Renal hypouricemia (RHUC) # MIM 606142 gene # MIM 612076 phenotype # Organism GTR9_HUMAN Homo sapiens (Human) # Orphanet 94088 Hereditary renal hypouricemia # POLYMORPHISM Genetic variations in SLC2A9 influence the variance in serum uric acid concentrations and define the serum uric acid concentration quantitative trait locus 2 (UAQTL2) [MIM 612076]. Excess serum accumulation of uric acid can lead to the development of gout. # PRINTS PR00171 SUGRTRNSPORT # PROSITE PS00216 SUGAR_TRANSPORT_1 # PROSITE PS00217 SUGAR_TRANSPORT_2 # PROSITE PS50850 MFS # Pfam PF00083 Sugar_tr # Proteomes UP000005640 Chromosome 4 # Reactome R-HSA-428776 Class II GLUTs # RecName GTR9_HUMAN Solute carrier family 2, facilitated glucose transporter member 9 # RefSeq NP_001001290 NM_001001290.1. [Q9NRM0-2] # RefSeq NP_064425 NM_020041.2. [Q9NRM0-1] # SIMILARITY Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION GTR9_HUMAN Isoform 1 Basolateral cell membrane {ECO 0000269|PubMed 14739288, ECO 0000269|PubMed 24409316}; Multi- pass membrane protein {ECO 0000269|PubMed 14739288}. # SUBCELLULAR LOCATION GTR9_HUMAN Isoform 2 Apical cell membrane {ECO 0000269|PubMed 24409316}; Multi-pass membrane protein. Basolateral cell membrane {ECO 0000269|PubMed 14739288, ECO 0000269|PubMed 24409316}; Multi-pass membrane protein {ECO 0000269|PubMed 14739288}. # SUPFAM SSF103473 SSF103473; 2 # TCDB 2.A.1.1.72 the major facilitator superfamily (mfs) # TIGRFAMs TIGR00879 SP # TISSUE SPECIFICITY GTR9_HUMAN Most strongly expressed in basolateral membranes of proximal renal tubular cells, liver and placenta. Also detected in lung, blood leukocytes, heart skeletal muscle and chondrocytes from articular cartilage. Isoform 2 is only detected in the apical membranes of polarized renal tubular cells and placenta. Isoform 1 and isoform 2 are detected in kidney membrane (at protein level). {ECO 0000269|PubMed 11991658, ECO 0000269|PubMed 24409316}. # UCSC uc003gmc human. [Q9NRM0-1] # eggNOG COG0477 LUCA # eggNOG KOG0569 Eukaryota BLAST swissprot:GTR9_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:GTR9_HUMAN BioCyc ZFISH:ENSG00000109667-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000109667-MONOMER COXPRESdb 56606 http://coxpresdb.jp/data/gene/56606.shtml CleanEx HS_SLC2A9 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC2A9 DOI 10.1006/cbir.2001.0850 http://dx.doi.org/10.1006/cbir.2001.0850 DOI 10.1006/geno.2000.6195 http://dx.doi.org/10.1006/geno.2000.6195 DOI 10.1016/j.ajhg.2008.11.001 http://dx.doi.org/10.1016/j.ajhg.2008.11.001 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1038/ng.106 http://dx.doi.org/10.1038/ng.106 DOI 10.1038/ng.107 http://dx.doi.org/10.1038/ng.107 DOI 10.1074/jbc.M312226200 http://dx.doi.org/10.1074/jbc.M312226200 DOI 10.1093/ndt/gfr419 http://dx.doi.org/10.1093/ndt/gfr419 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1371/journal.pone.0084996 http://dx.doi.org/10.1371/journal.pone.0084996 DOI 10.1371/journal.pone.0107902 http://dx.doi.org/10.1371/journal.pone.0107902 DOI 10.1681/ASN.2009040406 http://dx.doi.org/10.1681/ASN.2009040406 DrugBank DB00678 http://www.drugbank.ca/drugs/DB00678 DrugBank DB01032 http://www.drugbank.ca/drugs/DB01032 EMBL AC005674 http://www.ebi.ac.uk/ena/data/view/AC005674 EMBL AC098976 http://www.ebi.ac.uk/ena/data/view/AC098976 EMBL AC108199 http://www.ebi.ac.uk/ena/data/view/AC108199 EMBL AF210317 http://www.ebi.ac.uk/ena/data/view/AF210317 EMBL AF421859 http://www.ebi.ac.uk/ena/data/view/AF421859 EMBL BC018897 http://www.ebi.ac.uk/ena/data/view/BC018897 EMBL BC110414 http://www.ebi.ac.uk/ena/data/view/BC110414 Ensembl ENST00000264784 http://www.ensembl.org/id/ENST00000264784 Ensembl ENST00000309065 http://www.ensembl.org/id/ENST00000309065 Ensembl ENST00000506583 http://www.ensembl.org/id/ENST00000506583 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0016323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016323 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_function GO:0005351 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005351 GO_function GO:0005355 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005355 GO_function GO:0015143 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015143 GO_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GO_process GO:0015758 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015758 GO_process GO:0046415 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046415 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GeneCards SLC2A9 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC2A9 GeneID 56606 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=56606 GeneTree ENSGT00760000119022 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119022 H-InvDB HIX0004090 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0004090 HGNC HGNC:13446 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:13446 HOGENOM HOG000202871 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000202871&db=HOGENOM6 HOVERGEN HBG014816 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG014816&db=HOVERGEN HPA HPA066229 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA066229 InParanoid Q9NRM0 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9NRM0 InterPro IPR003663 http://www.ebi.ac.uk/interpro/entry/IPR003663 InterPro IPR005828 http://www.ebi.ac.uk/interpro/entry/IPR005828 InterPro IPR005829 http://www.ebi.ac.uk/interpro/entry/IPR005829 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 56606 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=56606 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Disease H00948 http://www.genome.jp/dbget-bin/www_bget?H00948 KEGG_Gene hsa:56606 http://www.genome.jp/dbget-bin/www_bget?hsa:56606 KEGG_Orthology KO:K08146 http://www.genome.jp/dbget-bin/www_bget?KO:K08146 MIM 606142 http://www.ncbi.nlm.nih.gov/omim/606142 MIM 612076 http://www.ncbi.nlm.nih.gov/omim/612076 OMA VFATICI http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=VFATICI Orphanet 94088 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=94088 OrthoDB EOG091G0A9K http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0A9K PRINTS PR00171 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00171 PROSITE PS00216 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00216 PROSITE PS00217 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00217 PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PSORT swissprot:GTR9_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:GTR9_HUMAN PSORT-B swissprot:GTR9_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:GTR9_HUMAN PSORT2 swissprot:GTR9_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:GTR9_HUMAN Pfam PF00083 http://pfam.xfam.org/family/PF00083 PharmGKB PA37771 http://www.pharmgkb.org/do/serve?objId=PA37771&objCls=Gene Phobius swissprot:GTR9_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:GTR9_HUMAN PhylomeDB Q9NRM0 http://phylomedb.org/?seqid=Q9NRM0 ProteinModelPortal Q9NRM0 http://www.proteinmodelportal.org/query/uniprot/Q9NRM0 PubMed 10860667 http://www.ncbi.nlm.nih.gov/pubmed/10860667 PubMed 11991658 http://www.ncbi.nlm.nih.gov/pubmed/11991658 PubMed 14739288 http://www.ncbi.nlm.nih.gov/pubmed/14739288 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 PubMed 18327256 http://www.ncbi.nlm.nih.gov/pubmed/18327256 PubMed 18327257 http://www.ncbi.nlm.nih.gov/pubmed/18327257 PubMed 19026395 http://www.ncbi.nlm.nih.gov/pubmed/19026395 PubMed 19926891 http://www.ncbi.nlm.nih.gov/pubmed/19926891 PubMed 21810765 http://www.ncbi.nlm.nih.gov/pubmed/21810765 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 24409316 http://www.ncbi.nlm.nih.gov/pubmed/24409316 PubMed 25268603 http://www.ncbi.nlm.nih.gov/pubmed/25268603 Reactome R-HSA-428776 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-428776 RefSeq NP_001001290 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001001290 RefSeq NP_064425 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_064425 STRING 9606.ENSP00000264784 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000264784&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.1.1.72 http://www.tcdb.org/search/result.php?tc=2.A.1.1.72 TIGRFAMs TIGR00879 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00879 UCSC uc003gmc http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003gmc&org=rat UniGene Hs.444612 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.444612 UniGene Hs.656895 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.656895 UniProtKB GTR9_HUMAN http://www.uniprot.org/uniprot/GTR9_HUMAN UniProtKB-AC Q9NRM0 http://www.uniprot.org/uniprot/Q9NRM0 charge swissprot:GTR9_HUMAN http://rest.g-language.org/emboss/charge/swissprot:GTR9_HUMAN eggNOG COG0477 http://eggnogapi.embl.de/nog_data/html/tree/COG0477 eggNOG KOG0569 http://eggnogapi.embl.de/nog_data/html/tree/KOG0569 epestfind swissprot:GTR9_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:GTR9_HUMAN garnier swissprot:GTR9_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:GTR9_HUMAN helixturnhelix swissprot:GTR9_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:GTR9_HUMAN hmoment swissprot:GTR9_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:GTR9_HUMAN iep swissprot:GTR9_HUMAN http://rest.g-language.org/emboss/iep/swissprot:GTR9_HUMAN inforesidue swissprot:GTR9_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:GTR9_HUMAN neXtProt NX_Q9NRM0 http://www.nextprot.org/db/entry/NX_Q9NRM0 octanol swissprot:GTR9_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:GTR9_HUMAN pepcoil swissprot:GTR9_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:GTR9_HUMAN pepdigest swissprot:GTR9_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:GTR9_HUMAN pepinfo swissprot:GTR9_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:GTR9_HUMAN pepnet swissprot:GTR9_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:GTR9_HUMAN pepstats swissprot:GTR9_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:GTR9_HUMAN pepwheel swissprot:GTR9_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:GTR9_HUMAN pepwindow swissprot:GTR9_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:GTR9_HUMAN sigcleave swissprot:GTR9_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:GTR9_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S26A8_HUMAN Event=Alternative splicing; Named isoforms=4; Name=1 {ECO 0000269|PubMed 11278976, ECO 0000269|PubMed 11834742, ECO 0000269|Ref.3}; IsoId=Q96RN1-1; Sequence=Displayed; Name=2 {ECO 0000269|PubMed 15489334}; IsoId=Q96RN1-2; Sequence=VSP_052705; Note=No experimental confirmation available. {ECO 0000305}; Name=3 {ECO 0000269|PubMed 14574404}; IsoId=Q96RN1-3; Sequence=VSP_052704, VSP_052706; Note=No experimental confirmation available. {ECO 0000305}; Name=4 {ECO 0000269|PubMed 14702039}; IsoId=Q96RN1-4; Sequence=VSP_052707, VSP_052708; Note=No experimental confirmation available. {ECO 0000305}; # AltName S26A8_HUMAN Anion exchange transporter # AltName S26A8_HUMAN Solute carrier family 26 member 8 # BioGrid 125501 2 # CCDS CCDS4813 -. [Q96RN1-1] # CCDS CCDS4814 -. [Q96RN1-2] # DISEASE S26A8_HUMAN Spermatogenic failure 3 (SPGF3) [MIM 606766] A disorder characterized by primary infertility, sperm morphologic abnormalities, and moderate to severe asthenozoospermia, condition in which the percentage of progressively motile sperm is abnormally low. {ECO 0000269|PubMed 23582645}. Note=The disease is caused by mutations affecting the gene represented in this entry. # ENZYME REGULATION S26A8_HUMAN Activity is inhibited by 4,4'-Di- isothiocyanatostilbene-2,2'-disulfonic acid (DIDS - an inhibitor of several anion channels and transporters), gluconate, and by thiosulfate. # Ensembl ENST00000355574 ENSP00000347778; ENSG00000112053. [Q96RN1-1] # Ensembl ENST00000394602 ENSP00000378100; ENSG00000112053. [Q96RN1-2] # Ensembl ENST00000490799 ENSP00000417638; ENSG00000112053. [Q96RN1-1] # ExpressionAtlas Q96RN1 baseline and differential # FUNCTION S26A8_HUMAN Acts as a DIDS-sensitive anion exchanger mediating chloride, sulfate and oxalate transport. May fulfill critical anion exchange functions in male germ line during meiosis and hence may play a role in spermatogenesis. May be involved in a new regulatory pathway linking sulfate transport to RhoGTPase signaling in male germ cells. A critical component of the sperm annulus that is essential for correct sperm tail differentiation and motility and hence male fertility. May form a moleculer complex involved in the regulation of chloride and bicarbonate ions fluxes during sperm capacitation. {ECO 0000269|PubMed 11278976, ECO 0000269|PubMed 11834742, ECO 0000269|PubMed 22121115}. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_function GO:0005254 chloride channel activity; IDA:UniProtKB. # GO_function GO:0008271 secondary active sulfate transmembrane transporter activity; IEA:InterPro. # GO_function GO:0015106 bicarbonate transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015116 sulfate transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0019531 oxalate transmembrane transporter activity; IDA:UniProtKB. # GO_function S26A8_HUMAN GO 0015301 anion anion antiporter activity; IBA GO_Central. # GO_process GO:0006820 anion transport; IDA:UniProtKB. # GO_process GO:0006821 chloride transport; IDA:UniProtKB. # GO_process GO:0007275 multicellular organism development; IEA:UniProtKB-KW. # GO_process GO:0008272 sulfate transport; IDA:UniProtKB. # GO_process GO:0015701 bicarbonate transport; IBA:GO_Central. # GO_process GO:0019532 oxalate transport; IDA:UniProtKB. # GO_process GO:0030317 flagellated sperm motility; IEA:InterPro. # GO_process GO:0042391 regulation of membrane potential; IBA:GO_Central. # GO_process GO:0048240 sperm capacitation; IEA:InterPro. # GO_process GO:0051321 meiotic cell cycle; IEA:UniProtKB-KW. # GO_process GO:0051453 regulation of intracellular pH; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007049 cell cycle # GOslim_process GO:0008150 biological_process # GOslim_process GO:0021700 developmental maturation # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0048870 cell motility # Gene3D 3.30.750.24 -; 2. # Genevisible Q96RN1 HS # HGNC HGNC:14468 SLC26A8 # INDUCTION Repressed by tunicamycin, an inhibitor of N- glycosylation. {ECO:0000269|PubMed 11278976}. # INTERACTION S26A8_HUMAN P13569 CFTR; NbExp=2; IntAct=EBI-1792052, EBI-349854; Q9H0H5 RACGAP1; NbExp=2; IntAct=EBI-1792052, EBI-717233; # IntAct Q96RN1 2 # InterPro IPR001902 SLC26A/SulP_fam # InterPro IPR002645 STAS_dom # InterPro IPR011547 SLC26A/SulP_dom # InterPro IPR030303 SLC26A8 # KEGG_Brite ko02001 Solute carrier family # MIM 606766 phenotype # MIM 608480 gene # Organism S26A8_HUMAN Homo sapiens (Human) # Orphanet 276234 Non-syndromic male infertility due to sperm motility disorder # PANTHER PTHR11814 PTHR11814; 2 # PANTHER PTHR11814:SF11 PTHR11814:SF11; 2 # PROSITE PS50801 STAS # PTM S26A8_HUMAN N-glycosylated. {ECO 0000269|PubMed 11278976}. # Pfam PF00916 Sulfate_transp # Pfam PF01740 STAS # Proteomes UP000005640 Chromosome 6 # RecName S26A8_HUMAN Testis anion transporter 1 # RefSeq NP_001180405 NM_001193476.1. [Q96RN1-1] # RefSeq NP_443193 NM_052961.3. [Q96RN1-1] # RefSeq NP_619732 NM_138718.2. [Q96RN1-2] # RefSeq XP_016865724 XM_017010235.1. [Q96RN1-1] # SEQUENCE CAUTION Sequence=AAO26699.1; Type=Miscellaneous discrepancy; Note=Incorrectly indicated as originating from mouse.; Evidence={ECO:0000305}; Sequence=BAB71408.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the SLC26A/SulP transporter (TC 2.A.53) family. {ECO 0000255}. # SIMILARITY Contains 1 STAS domain. {ECO:0000255|PROSITE- ProRule PRU00198}. # SUBCELLULAR LOCATION S26A8_HUMAN Membrane {ECO 0000269|PubMed 11278976, ECO 0000269|PubMed 17517695}; Multi-pass membrane protein {ECO 0000269|PubMed 11278976, ECO 0000269|PubMed 17517695}. Note=Located at the annulus ring structure within the sperm cell. {ECO 0000269|PubMed 11278976, ECO 0000269|PubMed 17517695}. # SUBUNIT S26A8_HUMAN Interacts with RACGAP1. Interacts with CFTR. {ECO 0000269|PubMed 11278976, ECO 0000269|PubMed 22121115}. # SUPFAM SSF52091 SSF52091; 2 # TCDB 2.A.53.2.14 the sulfate permease (sulp) family # TISSUE SPECIFICITY S26A8_HUMAN Expression observed exclusively in testis, restricted to the meiotic phase of the germ cell. Abundant expression located in the seminiferous tubules, concentrated on the luminal side of the tubuli harboring the spermatocytes and spermatids. Expressed in spermatozoa. {ECO 0000269|PubMed 11278976, ECO 0000269|PubMed 11834742}. # UCSC uc003oll human. [Q96RN1-1] # eggNOG COG0659 LUCA # eggNOG KOG0236 Eukaryota BLAST swissprot:S26A8_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S26A8_HUMAN BioCyc ZFISH:ENSG00000112053-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000112053-MONOMER COXPRESdb 116369 http://coxpresdb.jp/data/gene/116369.shtml CleanEx HS_SLC26A8 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC26A8 DOI 10.1016/j.ajhg.2013.03.016 http://dx.doi.org/10.1016/j.ajhg.2013.03.016 DOI 10.1038/nature02055 http://dx.doi.org/10.1038/nature02055 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.M011740200 http://dx.doi.org/10.1074/jbc.M011740200 DOI 10.1074/jbc.M111802200 http://dx.doi.org/10.1074/jbc.M111802200 DOI 10.1093/hmg/ddm117 http://dx.doi.org/10.1093/hmg/ddm117 DOI 10.1093/hmg/ddr558 http://dx.doi.org/10.1093/hmg/ddr558 DOI 10.1093/molehr/gah140 http://dx.doi.org/10.1093/molehr/gah140 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AF314959 http://www.ebi.ac.uk/ena/data/view/AF314959 EMBL AF331522 http://www.ebi.ac.uk/ena/data/view/AF331522 EMBL AF403499 http://www.ebi.ac.uk/ena/data/view/AF403499 EMBL AK057276 http://www.ebi.ac.uk/ena/data/view/AK057276 EMBL AL133507 http://www.ebi.ac.uk/ena/data/view/AL133507 EMBL AL133507 http://www.ebi.ac.uk/ena/data/view/AL133507 EMBL AL133507 http://www.ebi.ac.uk/ena/data/view/AL133507 EMBL BC025408 http://www.ebi.ac.uk/ena/data/view/BC025408 EMBL CH471081 http://www.ebi.ac.uk/ena/data/view/CH471081 EMBL Z95152 http://www.ebi.ac.uk/ena/data/view/Z95152 EMBL Z95152 http://www.ebi.ac.uk/ena/data/view/Z95152 Ensembl ENST00000355574 http://www.ensembl.org/id/ENST00000355574 Ensembl ENST00000394602 http://www.ensembl.org/id/ENST00000394602 Ensembl ENST00000490799 http://www.ensembl.org/id/ENST00000490799 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0005254 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005254 GO_function GO:0008271 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008271 GO_function GO:0015106 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015106 GO_function GO:0015116 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015116 GO_function GO:0015301 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015301 GO_function GO:0019531 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019531 GO_process GO:0006820 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006820 GO_process GO:0006821 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006821 GO_process GO:0007275 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007275 GO_process GO:0008272 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008272 GO_process GO:0015701 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015701 GO_process GO:0019532 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019532 GO_process GO:0030317 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030317 GO_process GO:0042391 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042391 GO_process GO:0048240 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048240 GO_process GO:0051321 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051321 GO_process GO:0051453 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051453 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007049 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007049 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0021700 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021700 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0048870 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048870 Gene3D 3.30.750.24 http://www.cathdb.info/version/latest/superfamily/3.30.750.24 GeneCards SLC26A8 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC26A8 GeneID 116369 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=116369 GeneTree ENSGT00760000119026 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119026 HGNC HGNC:14468 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:14468 HOGENOM HOG000154234 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000154234&db=HOGENOM6 HOVERGEN HBG108443 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG108443&db=HOVERGEN HPA HPA038080 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA038080 HPA HPA038081 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA038081 InParanoid Q96RN1 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q96RN1 IntAct Q96RN1 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q96RN1* InterPro IPR001902 http://www.ebi.ac.uk/interpro/entry/IPR001902 InterPro IPR002645 http://www.ebi.ac.uk/interpro/entry/IPR002645 InterPro IPR011547 http://www.ebi.ac.uk/interpro/entry/IPR011547 InterPro IPR030303 http://www.ebi.ac.uk/interpro/entry/IPR030303 Jabion 116369 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=116369 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:116369 http://www.genome.jp/dbget-bin/www_bget?hsa:116369 KEGG_Orthology KO:K14705 http://www.genome.jp/dbget-bin/www_bget?KO:K14705 MIM 606766 http://www.ncbi.nlm.nih.gov/omim/606766 MIM 608480 http://www.ncbi.nlm.nih.gov/omim/608480 OMA FGSCHQM http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=FGSCHQM Orphanet 276234 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=276234 OrthoDB EOG091G025O http://cegg.unige.ch/orthodb/results?searchtext=EOG091G025O PANTHER PTHR11814 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11814 PANTHER PTHR11814:SF11 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11814:SF11 PROSITE PS50801 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50801 PSORT swissprot:S26A8_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S26A8_HUMAN PSORT-B swissprot:S26A8_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S26A8_HUMAN PSORT2 swissprot:S26A8_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S26A8_HUMAN Pfam PF00916 http://pfam.xfam.org/family/PF00916 Pfam PF01740 http://pfam.xfam.org/family/PF01740 PharmGKB PA37885 http://www.pharmgkb.org/do/serve?objId=PA37885&objCls=Gene Phobius swissprot:S26A8_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S26A8_HUMAN PhylomeDB Q96RN1 http://phylomedb.org/?seqid=Q96RN1 ProteinModelPortal Q96RN1 http://www.proteinmodelportal.org/query/uniprot/Q96RN1 PubMed 11278976 http://www.ncbi.nlm.nih.gov/pubmed/11278976 PubMed 11834742 http://www.ncbi.nlm.nih.gov/pubmed/11834742 PubMed 14574404 http://www.ncbi.nlm.nih.gov/pubmed/14574404 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15579655 http://www.ncbi.nlm.nih.gov/pubmed/15579655 PubMed 17517695 http://www.ncbi.nlm.nih.gov/pubmed/17517695 PubMed 22121115 http://www.ncbi.nlm.nih.gov/pubmed/22121115 PubMed 23582645 http://www.ncbi.nlm.nih.gov/pubmed/23582645 RefSeq NP_001180405 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001180405 RefSeq NP_443193 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_443193 RefSeq NP_619732 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_619732 RefSeq XP_016865724 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016865724 STRING 9606.ENSP00000347778 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000347778&targetmode=cogs SUPFAM SSF52091 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52091 TCDB 2.A.53.2.14 http://www.tcdb.org/search/result.php?tc=2.A.53.2.14 UCSC uc003oll http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003oll&org=rat UniGene Hs.435836 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.435836 UniProtKB S26A8_HUMAN http://www.uniprot.org/uniprot/S26A8_HUMAN UniProtKB-AC Q96RN1 http://www.uniprot.org/uniprot/Q96RN1 charge swissprot:S26A8_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S26A8_HUMAN eggNOG COG0659 http://eggnogapi.embl.de/nog_data/html/tree/COG0659 eggNOG KOG0236 http://eggnogapi.embl.de/nog_data/html/tree/KOG0236 epestfind swissprot:S26A8_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S26A8_HUMAN garnier swissprot:S26A8_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S26A8_HUMAN helixturnhelix swissprot:S26A8_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S26A8_HUMAN hmoment swissprot:S26A8_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S26A8_HUMAN iep swissprot:S26A8_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S26A8_HUMAN inforesidue swissprot:S26A8_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S26A8_HUMAN neXtProt NX_Q96RN1 http://www.nextprot.org/db/entry/NX_Q96RN1 octanol swissprot:S26A8_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S26A8_HUMAN pepcoil swissprot:S26A8_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S26A8_HUMAN pepdigest swissprot:S26A8_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S26A8_HUMAN pepinfo swissprot:S26A8_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S26A8_HUMAN pepnet swissprot:S26A8_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S26A8_HUMAN pepstats swissprot:S26A8_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S26A8_HUMAN pepwheel swissprot:S26A8_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S26A8_HUMAN pepwindow swissprot:S26A8_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S26A8_HUMAN sigcleave swissprot:S26A8_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S26A8_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS CALCR_HUMAN Event=Alternative promoter usage, Alternative splicing; Named isoforms=6; Name=1; IsoId=P30988-1; Sequence=Displayed; Name=2; IsoId=P30988-2; Sequence=VSP_053290, VSP_053291; Name=3; IsoId=P30988-3; Sequence=VSP_053289, VSP_053291; Name=4; Synonyms=Delta(1-47)hCT((a)); IsoId=P30988-4; Sequence=VSP_053289; Name=5; Synonyms=HCTR-5; IsoId=P30988-5; Sequence=VSP_053290, VSP_053292, VSP_053293; Name=6; Synonyms=HCTR-6; IsoId=P30988-6; Sequence=VSP_053290, VSP_053291, VSP_053292, VSP_053293; # BioGrid 107250 5 # CCDS CCDS55125 -. [P30988-1] # CCDS CCDS5631 -. [P30988-2] # ChiTaRS CALCR human # DrugBank DB00017 Salmon Calcitonin # DrugBank DB01278 Pramlintide # Ensembl ENST00000415529 ENSP00000413179; ENSG00000004948. [P30988-6] # Ensembl ENST00000423724 ENSP00000391369; ENSG00000004948. [P30988-5] # ExpressionAtlas P30988 baseline and differential # FUNCTION CALCR_HUMAN This is a receptor for calcitonin. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase. The calcitonin receptor is thought to couple to the heterotrimeric guanosine triphosphate-binding protein that is sensitive to cholera toxin. # GO_component GO:0005623 cell; IEA:GOC. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; NAS:UniProtKB. # GO_function GO:0004872 receptor activity; IDA:UniProtKB. # GO_function GO:0004948 calcitonin receptor activity; IDA:UniProtKB. # GO_function GO:0008565 protein transporter activity; IDA:UniProtKB. # GO_function GO:0032841 calcitonin binding; IDA:UniProtKB. # GO_process GO:0007166 cell surface receptor signaling pathway; IEA:InterPro. # GO_process GO:0007189 adenylate cyclase-activating G-protein coupled receptor signaling pathway; IDA:UniProtKB. # GO_process GO:0007204 positive regulation of cytosolic calcium ion concentration; IDA:UniProtKB. # GO_process GO:0015031 protein transport; IDA:UniProtKB. # GO_process GO:0030819 positive regulation of cAMP biosynthetic process; IDA:UniProtKB. # GO_process GO:0031623 receptor internalization; IDA:UniProtKB. # GO_process GO:0045762 positive regulation of adenylate cyclase activity; IDA:UniProtKB. # GO_process GO:0051384 response to glucocorticoid; IDA:UniProtKB. # GO_process GO:0072659 protein localization to plasma membrane; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005623 cell # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0008565 protein transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007009 plasma membrane organization # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0016192 vesicle-mediated transport # GOslim_process GO:0042592 homeostatic process # Genevisible P30988 HS # HGNC HGNC:1440 CALCR # IntAct P30988 8 # InterPro IPR000832 GPCR_2_secretin-like # InterPro IPR001688 GPCR_2_calcitonin_rcpt # InterPro IPR001879 GPCR_2_extracellular_dom # InterPro IPR003287 GCPR_2_calcitonin_rcpt_fam # InterPro IPR017981 GPCR_2-like # InterPro IPR017983 GPCR_2_secretin-like_CS # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04030 G protein-coupled receptors # KEGG_Disease H01593 [Skeletal dysplasia] Osteoporosis # KEGG_Pathway ko04080 Neuroactive ligand-receptor interaction # KEGG_Pathway ko04380 Osteoclast differentiation # MIM 114131 gene # Organism CALCR_HUMAN Homo sapiens (Human) # PDB 5II0 X-ray; 2.10 A; A/B/C=43-162 # PIR I37217 I37217 # PIR S34486 S34486 # POLYMORPHISM CALCR_HUMAN Genetic variations in CALCR may be correlated with bone mineral density (BMD). Low BMD is a risk factor for osteoporotic fracture. Osteoporosis is characterized by reduced bone mineral density, disruption of bone microarchitecture, and the alteration of the amount and variety of non-collagenous proteins in bone. Osteoporotic bones are more at risk of fracture. # PRINTS PR00249 GPCRSECRETIN # PRINTS PR00361 CALCITONINR # PRINTS PR01350 CTRFAMILY # PROSITE PS00649 G_PROTEIN_RECEP_F2_1 # PROSITE PS00650 G_PROTEIN_RECEP_F2_2 # PROSITE PS50227 G_PROTEIN_RECEP_F2_3 # PROSITE PS50261 G_PROTEIN_RECEP_F2_4 # Pfam PF00002 7tm_2 # Pfam PF02793 HRM # Proteomes UP000005640 Chromosome 7 # Reactome R-HSA-418555 G alpha (s) signalling events # Reactome R-HSA-419812 Calcitonin-like ligand receptors # RecName CALCR_HUMAN Calcitonin receptor # RefSeq NP_001158209 NM_001164737.1 # RefSeq NP_001158210 NM_001164738.1 # RefSeq NP_001733 NM_001742.3 # SEQUENCE CAUTION Sequence=AAA35640.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the G-protein coupled receptor 2 family. {ECO 0000305}. # SMART SM00008 HormR # SUBCELLULAR LOCATION CALCR_HUMAN Cell membrane; Multi-pass membrane protein. # SUBUNIT Interacts with GPRASP2. {ECO:0000269|PubMed 15086532}. # TCDB 9.A.14.4 the g-protein-coupled receptor (gpcr) family # UCSC uc003umw human. [P30988-1] # eggNOG ENOG410XRS2 LUCA # eggNOG KOG4564 Eukaryota BLAST swissprot:CALCR_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CALCR_HUMAN COXPRESdb 799 http://coxpresdb.jp/data/gene/799.shtml CleanEx HS_CALCR http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CALCR DOI 10.1006/bbrc.1995.1562 http://dx.doi.org/10.1006/bbrc.1995.1562 DOI 10.1006/bbrc.1998.8445 http://dx.doi.org/10.1006/bbrc.1998.8445 DOI 10.1006/bbrc.1998.8880 http://dx.doi.org/10.1006/bbrc.1998.8880 DOI 10.1006/bbrc.2000.2842 http://dx.doi.org/10.1006/bbrc.2000.2842 DOI 10.1016/0014-5793(94)80503-2 http://dx.doi.org/10.1016/0014-5793(94)80503-2 DOI 10.1016/S0014-5793(99)01176-X http://dx.doi.org/10.1016/S0014-5793(99)01176-X DOI 10.1016/j.gene.2004.08.019 http://dx.doi.org/10.1016/j.gene.2004.08.019 DOI 10.1038/nature01782 http://dx.doi.org/10.1038/nature01782 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1093/hmg/7.13.2129 http://dx.doi.org/10.1093/hmg/7.13.2129 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1110/ps.04682504 http://dx.doi.org/10.1110/ps.04682504 DOI 10.1111/j.1471-4159.2004.02411.x http://dx.doi.org/10.1111/j.1471-4159.2004.02411.x DOI 10.1111/j.1476-5381.2012.02197.x http://dx.doi.org/10.1111/j.1476-5381.2012.02197.x DOI 10.1126/science.1083423 http://dx.doi.org/10.1126/science.1083423 DOI 10.1172/JCI116046 http://dx.doi.org/10.1172/JCI116046 DOI 10.1210/en.136.12.5377 http://dx.doi.org/10.1210/en.136.12.5377 DOI 10.1210/en.136.5.2047 http://dx.doi.org/10.1210/en.136.5.2047 DrugBank DB00017 http://www.drugbank.ca/drugs/DB00017 DrugBank DB01278 http://www.drugbank.ca/drugs/DB01278 EMBL AB022177 http://www.ebi.ac.uk/ena/data/view/AB022177 EMBL AB022178 http://www.ebi.ac.uk/ena/data/view/AB022178 EMBL AC003078 http://www.ebi.ac.uk/ena/data/view/AC003078 EMBL AC005024 http://www.ebi.ac.uk/ena/data/view/AC005024 EMBL AJ831406 http://www.ebi.ac.uk/ena/data/view/AJ831406 EMBL AJ831407 http://www.ebi.ac.uk/ena/data/view/AJ831407 EMBL AK313996 http://www.ebi.ac.uk/ena/data/view/AK313996 EMBL AY430048 http://www.ebi.ac.uk/ena/data/view/AY430048 EMBL BC069611 http://www.ebi.ac.uk/ena/data/view/BC069611 EMBL BC075028 http://www.ebi.ac.uk/ena/data/view/BC075028 EMBL CH236949 http://www.ebi.ac.uk/ena/data/view/CH236949 EMBL CH471091 http://www.ebi.ac.uk/ena/data/view/CH471091 EMBL FN994995 http://www.ebi.ac.uk/ena/data/view/FN994995 EMBL FN994996 http://www.ebi.ac.uk/ena/data/view/FN994996 EMBL L00587 http://www.ebi.ac.uk/ena/data/view/L00587 EMBL S77875 http://www.ebi.ac.uk/ena/data/view/S77875 EMBL S77876 http://www.ebi.ac.uk/ena/data/view/S77876 EMBL U26553 http://www.ebi.ac.uk/ena/data/view/U26553 EMBL U26554 http://www.ebi.ac.uk/ena/data/view/U26554 EMBL X69920 http://www.ebi.ac.uk/ena/data/view/X69920 EMBL X82466 http://www.ebi.ac.uk/ena/data/view/X82466 Ensembl ENST00000415529 http://www.ensembl.org/id/ENST00000415529 Ensembl ENST00000423724 http://www.ensembl.org/id/ENST00000423724 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005623 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005623 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0004872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004872 GO_function GO:0004948 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004948 GO_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GO_function GO:0032841 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032841 GO_process GO:0007166 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007166 GO_process GO:0007189 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007189 GO_process GO:0007204 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007204 GO_process GO:0015031 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015031 GO_process GO:0030819 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030819 GO_process GO:0031623 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031623 GO_process GO:0045762 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045762 GO_process GO:0051384 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051384 GO_process GO:0072659 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0072659 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005623 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005623 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007009 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007009 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0016192 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016192 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GeneCards CALCR http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CALCR GeneID 799 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=799 GeneTree ENSGT00760000118800 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118800 H-InvDB HIX0033513 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0033513 HGNC HGNC:1440 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:1440 HOGENOM HOG000230695 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000230695&db=HOGENOM6 HOVERGEN HBG102129 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG102129&db=HOVERGEN HPA HPA028962 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA028962 InParanoid P30988 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P30988 IntAct P30988 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P30988* InterPro IPR000832 http://www.ebi.ac.uk/interpro/entry/IPR000832 InterPro IPR001688 http://www.ebi.ac.uk/interpro/entry/IPR001688 InterPro IPR001879 http://www.ebi.ac.uk/interpro/entry/IPR001879 InterPro IPR003287 http://www.ebi.ac.uk/interpro/entry/IPR003287 InterPro IPR017981 http://www.ebi.ac.uk/interpro/entry/IPR017981 InterPro IPR017983 http://www.ebi.ac.uk/interpro/entry/IPR017983 Jabion 799 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=799 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04030 http://www.genome.jp/dbget-bin/www_bget?ko04030 KEGG_Disease H01593 http://www.genome.jp/dbget-bin/www_bget?H01593 KEGG_Gene hsa:799 http://www.genome.jp/dbget-bin/www_bget?hsa:799 KEGG_Orthology KO:K04576 http://www.genome.jp/dbget-bin/www_bget?KO:K04576 KEGG_Pathway ko04080 http://www.genome.jp/kegg-bin/show_pathway?ko04080 KEGG_Pathway ko04380 http://www.genome.jp/kegg-bin/show_pathway?ko04380 MIM 114131 http://www.ncbi.nlm.nih.gov/omim/114131 MINT MINT-1217503 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1217503 PDB 5II0 http://www.ebi.ac.uk/pdbe-srv/view/entry/5II0 PDBsum 5II0 http://www.ebi.ac.uk/pdbsum/5II0 PRINTS PR00249 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00249 PRINTS PR00361 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00361 PRINTS PR01350 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01350 PROSITE PS00649 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00649 PROSITE PS00650 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00650 PROSITE PS50227 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50227 PROSITE PS50261 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50261 PSORT swissprot:CALCR_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CALCR_HUMAN PSORT-B swissprot:CALCR_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CALCR_HUMAN PSORT2 swissprot:CALCR_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CALCR_HUMAN Pfam PF00002 http://pfam.xfam.org/family/PF00002 Pfam PF02793 http://pfam.xfam.org/family/PF02793 PharmGKB PA26032 http://www.pharmgkb.org/do/serve?objId=PA26032&objCls=Gene Phobius swissprot:CALCR_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CALCR_HUMAN ProteinModelPortal P30988 http://www.proteinmodelportal.org/query/uniprot/P30988 PubMed 10570950 http://www.ncbi.nlm.nih.gov/pubmed/10570950 PubMed 10860825 http://www.ncbi.nlm.nih.gov/pubmed/10860825 PubMed 12690205 http://www.ncbi.nlm.nih.gov/pubmed/12690205 PubMed 12853948 http://www.ncbi.nlm.nih.gov/pubmed/12853948 PubMed 1331173 http://www.ncbi.nlm.nih.gov/pubmed/1331173 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15086532 http://www.ncbi.nlm.nih.gov/pubmed/15086532 PubMed 15340161 http://www.ncbi.nlm.nih.gov/pubmed/15340161 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15563840 http://www.ncbi.nlm.nih.gov/pubmed/15563840 PubMed 22946511 http://www.ncbi.nlm.nih.gov/pubmed/22946511 PubMed 7588285 http://www.ncbi.nlm.nih.gov/pubmed/7588285 PubMed 7720653 http://www.ncbi.nlm.nih.gov/pubmed/7720653 PubMed 7733946 http://www.ncbi.nlm.nih.gov/pubmed/7733946 PubMed 8078488 http://www.ncbi.nlm.nih.gov/pubmed/8078488 PubMed 8143880 http://www.ncbi.nlm.nih.gov/pubmed/8143880 PubMed 9571205 http://www.ncbi.nlm.nih.gov/pubmed/9571205 PubMed 9675109 http://www.ncbi.nlm.nih.gov/pubmed/9675109 PubMed 9817931 http://www.ncbi.nlm.nih.gov/pubmed/9817931 Reactome R-HSA-418555 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-418555 Reactome R-HSA-419812 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-419812 RefSeq NP_001158209 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001158209 RefSeq NP_001158210 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001158210 RefSeq NP_001733 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001733 SMART SM00008 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00008 SMR P30988 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P30988 STRING 9606.ENSP00000352561 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000352561&targetmode=cogs TCDB 9.A.14.4 http://www.tcdb.org/search/result.php?tc=9.A.14.4 UCSC uc003umw http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003umw&org=rat UniGene Hs.489127 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.489127 UniProtKB CALCR_HUMAN http://www.uniprot.org/uniprot/CALCR_HUMAN UniProtKB-AC P30988 http://www.uniprot.org/uniprot/P30988 charge swissprot:CALCR_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CALCR_HUMAN eggNOG ENOG410XRS2 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XRS2 eggNOG KOG4564 http://eggnogapi.embl.de/nog_data/html/tree/KOG4564 epestfind swissprot:CALCR_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CALCR_HUMAN garnier swissprot:CALCR_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CALCR_HUMAN helixturnhelix swissprot:CALCR_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CALCR_HUMAN hmoment swissprot:CALCR_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CALCR_HUMAN iep swissprot:CALCR_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CALCR_HUMAN inforesidue swissprot:CALCR_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CALCR_HUMAN neXtProt NX_P30988 http://www.nextprot.org/db/entry/NX_P30988 octanol swissprot:CALCR_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CALCR_HUMAN pepcoil swissprot:CALCR_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CALCR_HUMAN pepdigest swissprot:CALCR_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CALCR_HUMAN pepinfo swissprot:CALCR_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CALCR_HUMAN pepnet swissprot:CALCR_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CALCR_HUMAN pepstats swissprot:CALCR_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CALCR_HUMAN pepwheel swissprot:CALCR_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CALCR_HUMAN pepwindow swissprot:CALCR_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CALCR_HUMAN sigcleave swissprot:CALCR_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CALCR_HUMAN ## Database ID URL or Descriptions # AltName AP3S1_HUMAN AP-3 complex subunit sigma-3A # AltName AP3S1_HUMAN Adaptor-related protein complex 3 subunit sigma-1 # AltName AP3S1_HUMAN Clathrin-associated/assembly/adaptor protein, small 3 # AltName AP3S1_HUMAN Sigma-3A-adaptin # AltName AP3S1_HUMAN Sigma-adaptin 3a # BioGrid 107590 50 # ChiTaRS AP3S1 human # Ensembl ENST00000316788 ENSP00000325369; ENSG00000177879 # ExpressionAtlas Q92572 baseline and differential # FUNCTION AP3S1_HUMAN Part of the AP-3 complex, an adaptor-related complex which is not clathrin-associated. The complex is associated with the Golgi region as well as more peripheral structures. It facilitates the budding of vesicles from the Golgi membrane and may be directly involved in trafficking to lysosomes. In concert with the BLOC-1 complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. # GO_component GO:0005794 Golgi apparatus; IEA:UniProtKB-SubCell. # GO_component GO:0030119 AP-type membrane coat adaptor complex; TAS:ProtInc. # GO_component GO:0030123 AP-3 adaptor complex; IDA:FlyBase. # GO_component GO:0030133 transport vesicle; TAS:ProtInc. # GO_component GO:0030659 cytoplasmic vesicle membrane; IEA:UniProtKB-SubCell. # GO_component GO:0043231 intracellular membrane-bounded organelle; IDA:HPA. # GO_component GO:1904115 axon cytoplasm; IEA:GOC. # GO_function GO:0005215 transporter activity; NAS:ProtInc. # GO_function GO:0008565 protein transporter activity; IEA:InterPro. # GO_process GO:0006886 intracellular protein transport; IEA:InterPro. # GO_process GO:0008089 anterograde axonal transport; ISS:UniProtKB. # GO_process GO:0008286 insulin receptor signaling pathway; TAS:ProtInc. # GO_process GO:0048490 anterograde synaptic vesicle transport; ISS:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005794 Golgi apparatus # GOslim_component GO:0031410 cytoplasmic vesicle # GOslim_component GO:0043226 organelle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0008565 protein transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0016192 vesicle-mediated transport # GOslim_process GO:0030705 cytoskeleton-dependent intracellular transport # Genevisible Q92572 HS # HGNC HGNC:2013 AP3S1 # IntAct Q92572 11 # InterPro IPR000804 Clathrin_sm-chain_CS # InterPro IPR011012 Longin-like_dom # InterPro IPR016635 AP_complex_ssu # InterPro IPR022775 AP_mu_sigma_su # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Pathway ko04142 Lysosome # MIM 601507 gene # Organism AP3S1_HUMAN Homo sapiens (Human) # PANTHER PTHR11753 PTHR11753 # PROSITE PS00989 CLAT_ADAPTOR_S # Pfam PF01217 Clat_adaptor_s # Proteomes UP000005640 Chromosome 5 # Reactome R-HSA-432722 Golgi Associated Vesicle Biogenesis # RecName AP3S1_HUMAN AP-3 complex subunit sigma-1 # RefSeq NP_001002924 NM_001002924.2 # RefSeq NP_001275 NM_001284.3 # RefSeq NP_001305019 NM_001318090.1 # RefSeq NP_001305020 NM_001318091.1 # RefSeq NP_001305022 NM_001318093.1 # RefSeq NP_001305023 NM_001318094.1 # SIMILARITY Belongs to the adaptor complexes small subunit family. {ECO 0000305}. # SUBCELLULAR LOCATION AP3S1_HUMAN Golgi apparatus. Cytoplasmic vesicle membrane; Peripheral membrane protein; Cytoplasmic side. Note=Component of the coat surrounding the cytoplasmic face of coated vesicles located at the Golgi complex. # SUBUNIT Adaptor protein complex 3 (AP-3) is a heterotetramer composed of two large adaptins (delta-type subunit AP3D1 and beta- type subunit AP3B1 or AP3B2), a medium adaptin (mu-type subunit AP3M1 or AP3M2) and a small adaptin (sigma-type subunit APS1 or AP3S2). Interacts with AGAP1. AP-3 associates with the BLOC-1 complex (By similarity). {ECO 0000250}. # SUPFAM SSF64356 SSF64356 # TISSUE SPECIFICITY AP3S1_HUMAN Present in all adult tissues examined. {ECO 0000269|PubMed 8697810, ECO 0000269|PubMed 9118953, ECO 0000269|PubMed 9151686}. # UCSC uc003krl human # eggNOG COG5030 LUCA # eggNOG KOG0936 Eukaryota BLAST swissprot:AP3S1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:AP3S1_HUMAN BioCyc ZFISH:ENSG00000177879-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000177879-MONOMER COXPRESdb 1176 http://coxpresdb.jp/data/gene/1176.shtml CleanEx HS_AP3S1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_AP3S1 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1083/jcb.137.4.835 http://dx.doi.org/10.1083/jcb.137.4.835 DOI 10.1093/emboj/16.5.917 http://dx.doi.org/10.1093/emboj/16.5.917 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL BC000804 http://www.ebi.ac.uk/ena/data/view/BC000804 EMBL BT009833 http://www.ebi.ac.uk/ena/data/view/BT009833 EMBL CR450341 http://www.ebi.ac.uk/ena/data/view/CR450341 EMBL D63643 http://www.ebi.ac.uk/ena/data/view/D63643 EMBL U91932 http://www.ebi.ac.uk/ena/data/view/U91932 EMBL X99458 http://www.ebi.ac.uk/ena/data/view/X99458 Ensembl ENST00000316788 http://www.ensembl.org/id/ENST00000316788 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GO_component GO:0030119 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030119 GO_component GO:0030123 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030123 GO_component GO:0030133 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030133 GO_component GO:0030659 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030659 GO_component GO:0043231 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043231 GO_component GO:1904115 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1904115 GO_function GO:0005215 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005215 GO_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GO_process GO:0006886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006886 GO_process GO:0008089 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008089 GO_process GO:0008286 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008286 GO_process GO:0048490 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048490 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GOslim_component GO:0031410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0016192 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016192 GOslim_process GO:0030705 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030705 GeneCards AP3S1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=AP3S1 GeneID 1176 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=1176 GeneTree ENSGT00550000074761 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074761 HGNC HGNC:2013 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:2013 HOVERGEN HBG050517 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050517&db=HOVERGEN HPA HPA049270 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA049270 InParanoid Q92572 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q92572 IntAct Q92572 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q92572* InterPro IPR000804 http://www.ebi.ac.uk/interpro/entry/IPR000804 InterPro IPR011012 http://www.ebi.ac.uk/interpro/entry/IPR011012 InterPro IPR016635 http://www.ebi.ac.uk/interpro/entry/IPR016635 InterPro IPR022775 http://www.ebi.ac.uk/interpro/entry/IPR022775 Jabion 1176 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=1176 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Gene hsa:1176 http://www.genome.jp/dbget-bin/www_bget?hsa:1176 KEGG_Orthology KO:K12399 http://www.genome.jp/dbget-bin/www_bget?KO:K12399 KEGG_Pathway ko04142 http://www.genome.jp/kegg-bin/show_pathway?ko04142 MIM 601507 http://www.ncbi.nlm.nih.gov/omim/601507 OMA HYSEDTE http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=HYSEDTE OrthoDB EOG091G0QZV http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0QZV PANTHER PTHR11753 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11753 PROSITE PS00989 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00989 PSORT swissprot:AP3S1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:AP3S1_HUMAN PSORT-B swissprot:AP3S1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:AP3S1_HUMAN PSORT2 swissprot:AP3S1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:AP3S1_HUMAN Pfam PF01217 http://pfam.xfam.org/family/PF01217 PharmGKB PA24862 http://www.pharmgkb.org/do/serve?objId=PA24862&objCls=Gene Phobius swissprot:AP3S1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:AP3S1_HUMAN PhylomeDB Q92572 http://phylomedb.org/?seqid=Q92572 ProteinModelPortal Q92572 http://www.proteinmodelportal.org/query/uniprot/Q92572 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 8697810 http://www.ncbi.nlm.nih.gov/pubmed/8697810 PubMed 9118953 http://www.ncbi.nlm.nih.gov/pubmed/9118953 PubMed 9151686 http://www.ncbi.nlm.nih.gov/pubmed/9151686 Reactome R-HSA-432722 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-432722 RefSeq NP_001002924 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001002924 RefSeq NP_001275 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001275 RefSeq NP_001305019 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001305019 RefSeq NP_001305020 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001305020 RefSeq NP_001305022 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001305022 RefSeq NP_001305023 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001305023 SMR Q92572 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q92572 STRING 9606.ENSP00000325369 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000325369&targetmode=cogs SUPFAM SSF64356 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF64356 UCSC uc003krl http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003krl&org=rat UniGene Hs.406191 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.406191 UniProtKB AP3S1_HUMAN http://www.uniprot.org/uniprot/AP3S1_HUMAN UniProtKB-AC Q92572 http://www.uniprot.org/uniprot/Q92572 charge swissprot:AP3S1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:AP3S1_HUMAN eggNOG COG5030 http://eggnogapi.embl.de/nog_data/html/tree/COG5030 eggNOG KOG0936 http://eggnogapi.embl.de/nog_data/html/tree/KOG0936 epestfind swissprot:AP3S1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:AP3S1_HUMAN garnier swissprot:AP3S1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:AP3S1_HUMAN helixturnhelix swissprot:AP3S1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:AP3S1_HUMAN hmoment swissprot:AP3S1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:AP3S1_HUMAN iep swissprot:AP3S1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:AP3S1_HUMAN inforesidue swissprot:AP3S1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:AP3S1_HUMAN neXtProt NX_Q92572 http://www.nextprot.org/db/entry/NX_Q92572 octanol swissprot:AP3S1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:AP3S1_HUMAN pepcoil swissprot:AP3S1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:AP3S1_HUMAN pepdigest swissprot:AP3S1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:AP3S1_HUMAN pepinfo swissprot:AP3S1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:AP3S1_HUMAN pepnet swissprot:AP3S1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:AP3S1_HUMAN pepstats swissprot:AP3S1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:AP3S1_HUMAN pepwheel swissprot:AP3S1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:AP3S1_HUMAN pepwindow swissprot:AP3S1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:AP3S1_HUMAN sigcleave swissprot:AP3S1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:AP3S1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS KCNH7_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NS40-1; Sequence=Displayed; Name=2; IsoId=Q9NS40-2; Sequence=VSP_037116, VSP_037117, VSP_037118; Note=No experimental confirmation available.; # AltName KCNH7_HUMAN Ether-a-go-go-related gene potassium channel 3 # AltName KCNH7_HUMAN Voltage-gated potassium channel subunit Kv11.3 # CCDS CCDS2219 -. [Q9NS40-1] # CCDS CCDS2220 -. [Q9NS40-2] # ChiTaRS KCNH7 human # DOMAIN KCNH7_HUMAN The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position. # DrugBank DB00308 Ibutilide # DrugBank DB00457 Prazosin # DrugBank DB00590 Doxazosin # DrugBank DB01110 Miconazole # DrugBank DB01162 Terazosin # Ensembl ENST00000328032 ENSP00000333781; ENSG00000184611. [Q9NS40-2] # Ensembl ENST00000332142 ENSP00000331727; ENSG00000184611. [Q9NS40-1] # ExpressionAtlas Q9NS40 baseline and differential # FUNCTION KCNH7_HUMAN Pore-forming (alpha) subunit of voltage-gated potassium channel. Channel properties may be modulated by cAMP and subunit assembly. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_function GO:0005249 voltage-gated potassium channel activity; IBA:GO_Central. # GO_process GO:0042391 regulation of membrane potential; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0008150 biological_process # Gene3D 2.60.120.10 -; 1. # Genevisible Q9NS40 HS # HGNC HGNC:18863 KCNH7 # InterPro IPR000014 PAS # InterPro IPR000595 cNMP-bd_dom # InterPro IPR003938 K_chnl_volt-dep_EAG/ELK/ERG # InterPro IPR003967 K_chnl_volt-dep_ERG # InterPro IPR005821 Ion_trans_dom # InterPro IPR014710 RmlC-like_jellyroll # InterPro IPR018490 cNMP-bd-like # KEGG_Brite ko04040 Ion channels # MIM 608169 gene # Organism KCNH7_HUMAN Homo sapiens (Human) # PRINTS PR01463 EAGCHANLFMLY # PRINTS PR01470 ERGCHANNEL # PROSITE PS50042 CNMP_BINDING_3 # Pfam PF00027 cNMP_binding # Pfam PF00520 Ion_trans # Pfam PF13426 PAS_9 # Proteomes UP000005640 Chromosome 2 # Reactome R-HSA-1296072 Voltage gated Potassium channels # RecName KCNH7_HUMAN Potassium voltage-gated channel subfamily H member 7 # RefSeq NP_150375 NM_033272.3. [Q9NS40-1] # RefSeq NP_775185 NM_173162.2. [Q9NS40-2] # SEQUENCE CAUTION Sequence=AAD01946.1; Type=Frameshift; Positions=792, 795; Evidence={ECO 0000305}; # SIMILARITY Belongs to the potassium channel family. H (Eag) (TC 1.A.1.20) subfamily. Kv11.3/KCNH7 sub-subfamily. {ECO 0000305}. # SIMILARITY Contains 1 PAC (PAS-associated C-terminal) domain. {ECO 0000305}. # SIMILARITY Contains 1 PAS (PER-ARNT-SIM) domain. {ECO 0000305}. # SIMILARITY Contains 1 cyclic nucleotide-binding domain. {ECO:0000255|PROSITE-ProRule PRU00060}. # SMART SM00100 cNMP # SUBCELLULAR LOCATION KCNH7_HUMAN Membrane; Multi-pass membrane protein. # SUBUNIT The potassium channel is probably composed of a homo- or heterotetrameric complex of pore-forming alpha subunits that can associate with modulating beta subunits. Heteromultimer with KCNH2/ERG1 and KCNH6/ERG2 (By similarity). {ECO 0000250}. # SUPFAM SSF51206 SSF51206 # SUPFAM SSF55785 SSF55785 # TIGRFAMs TIGR00229 sensory_box # TISSUE SPECIFICITY Expressed in prolactin-secreting adenomas. {ECO:0000269|PubMed 12634931}. # UCSC uc002uch human. [Q9NS40-1] # eggNOG ENOG410XPSE LUCA # eggNOG KOG0498 Eukaryota BLAST swissprot:KCNH7_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCNH7_HUMAN COXPRESdb 90134 http://coxpresdb.jp/data/gene/90134.shtml CleanEx HS_KCNH7 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNH7 DOI 10.1007/s00424-002-0980-0 http://dx.doi.org/10.1007/s00424-002-0980-0 DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DrugBank DB00308 http://www.drugbank.ca/drugs/DB00308 DrugBank DB00457 http://www.drugbank.ca/drugs/DB00457 DrugBank DB00590 http://www.drugbank.ca/drugs/DB00590 DrugBank DB01110 http://www.drugbank.ca/drugs/DB01110 DrugBank DB01162 http://www.drugbank.ca/drugs/DB01162 EMBL AC007740 http://www.ebi.ac.uk/ena/data/view/AC007740 EMBL AC010876 http://www.ebi.ac.uk/ena/data/view/AC010876 EMBL AC104822 http://www.ebi.ac.uk/ena/data/view/AC104822 EMBL AF032897 http://www.ebi.ac.uk/ena/data/view/AF032897 EMBL BC035815 http://www.ebi.ac.uk/ena/data/view/BC035815 Ensembl ENST00000328032 http://www.ensembl.org/id/ENST00000328032 Ensembl ENST00000332142 http://www.ensembl.org/id/ENST00000332142 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0005249 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005249 GO_process GO:0042391 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042391 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 Gene3D 2.60.120.10 http://www.cathdb.info/version/latest/superfamily/2.60.120.10 GeneCards KCNH7 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNH7 GeneID 90134 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=90134 GeneTree ENSGT00760000118772 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118772 HGNC HGNC:18863 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:18863 HOGENOM HOG000230793 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000230793&db=HOGENOM6 HOVERGEN HBG052232 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052232&db=HOVERGEN HPA HPA018039 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA018039 InParanoid Q9NS40 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9NS40 IntAct Q9NS40 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9NS40* InterPro IPR000014 http://www.ebi.ac.uk/interpro/entry/IPR000014 InterPro IPR000595 http://www.ebi.ac.uk/interpro/entry/IPR000595 InterPro IPR003938 http://www.ebi.ac.uk/interpro/entry/IPR003938 InterPro IPR003967 http://www.ebi.ac.uk/interpro/entry/IPR003967 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR014710 http://www.ebi.ac.uk/interpro/entry/IPR014710 InterPro IPR018490 http://www.ebi.ac.uk/interpro/entry/IPR018490 Jabion 90134 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=90134 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:90134 http://www.genome.jp/dbget-bin/www_bget?hsa:90134 KEGG_Orthology KO:K04910 http://www.genome.jp/dbget-bin/www_bget?KO:K04910 MIM 608169 http://www.ncbi.nlm.nih.gov/omim/608169 OMA QMTTDIQ http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=QMTTDIQ OrthoDB EOG091G024C http://cegg.unige.ch/orthodb/results?searchtext=EOG091G024C PRINTS PR01463 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01463 PRINTS PR01470 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01470 PROSITE PS50042 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50042 PSORT swissprot:KCNH7_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCNH7_HUMAN PSORT-B swissprot:KCNH7_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCNH7_HUMAN PSORT2 swissprot:KCNH7_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCNH7_HUMAN Pfam PF00027 http://pfam.xfam.org/family/PF00027 Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF13426 http://pfam.xfam.org/family/PF13426 PharmGKB PA38723 http://www.pharmgkb.org/do/serve?objId=PA38723&objCls=Gene Phobius swissprot:KCNH7_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCNH7_HUMAN PhylomeDB Q9NS40 http://phylomedb.org/?seqid=Q9NS40 ProteinModelPortal Q9NS40 http://www.proteinmodelportal.org/query/uniprot/Q9NS40 PubMed 12634931 http://www.ncbi.nlm.nih.gov/pubmed/12634931 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 Reactome R-HSA-1296072 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1296072 RefSeq NP_150375 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_150375 RefSeq NP_775185 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_775185 SMART SM00100 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00100 SMR Q9NS40 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9NS40 STRING 9606.ENSP00000331727 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000331727&targetmode=cogs SUPFAM SSF51206 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF51206 SUPFAM SSF55785 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF55785 TIGRFAMs TIGR00229 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00229 UCSC uc002uch http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002uch&org=rat UniGene Hs.657413 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.657413 UniProtKB KCNH7_HUMAN http://www.uniprot.org/uniprot/KCNH7_HUMAN UniProtKB-AC Q9NS40 http://www.uniprot.org/uniprot/Q9NS40 charge swissprot:KCNH7_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCNH7_HUMAN eggNOG ENOG410XPSE http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XPSE eggNOG KOG0498 http://eggnogapi.embl.de/nog_data/html/tree/KOG0498 epestfind swissprot:KCNH7_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCNH7_HUMAN garnier swissprot:KCNH7_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCNH7_HUMAN helixturnhelix swissprot:KCNH7_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCNH7_HUMAN hmoment swissprot:KCNH7_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCNH7_HUMAN iep swissprot:KCNH7_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCNH7_HUMAN inforesidue swissprot:KCNH7_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCNH7_HUMAN neXtProt NX_Q9NS40 http://www.nextprot.org/db/entry/NX_Q9NS40 octanol swissprot:KCNH7_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCNH7_HUMAN pepcoil swissprot:KCNH7_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCNH7_HUMAN pepdigest swissprot:KCNH7_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCNH7_HUMAN pepinfo swissprot:KCNH7_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCNH7_HUMAN pepnet swissprot:KCNH7_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCNH7_HUMAN pepstats swissprot:KCNH7_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCNH7_HUMAN pepwheel swissprot:KCNH7_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCNH7_HUMAN pepwindow swissprot:KCNH7_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCNH7_HUMAN sigcleave swissprot:KCNH7_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCNH7_HUMAN ## Database ID URL or Descriptions # AltName CRFM7_HUMAN CHRNA7-DR1 # AltName CRFM7_HUMAN D-10 # CAUTION This protein is encoded by a hybrid gene consisting of a duplication of exons 5 through 10 of the CHRNA7 gene fused 3-prime to a copy of the FAM7A gene (exons A through E). The CHRFAM7A gene is in the opposite orientation to the CHRNA7 gene. It seems not to be represented on every human chromosome 15 and it is not clear whether the transcript is actually translated. {ECO 0000305}. # ChiTaRS CHRFAM7A human # Ensembl ENST00000299847 ENSP00000299847; ENSG00000166664 # ExpressionAtlas Q494W8 baseline and differential # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0005230 extracellular ligand-gated ion channel activity; IEA:InterPro. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # Gene3D 1.20.120.370 -; 2. # Gene3D 2.70.170.10 -; 1. # Genevisible Q494W8 HS # HGNC HGNC:15781 CHRFAM7A # InterPro IPR006029 Neurotrans-gated_channel_TM # InterPro IPR006201 Neur_channel # InterPro IPR006202 Neur_chan_lig-bd # InterPro IPR018000 Neurotransmitter_ion_chnl_CS # InterPro IPR027361 Acetylcholine_rcpt_TM # MIM 609756 gene # Organism CRFM7_HUMAN Homo sapiens (Human) # PANTHER PTHR18945 PTHR18945; 3 # PROSITE PS00236 NEUROTR_ION_CHANNEL # Pfam PF02931 Neur_chan_LBD # Pfam PF02932 Neur_chan_memb # Proteomes UP000005640 Chromosome 15 # RecName CRFM7_HUMAN CHRNA7-FAM7A fusion protein # RefSeq NP_647536 NM_139320.1 # RefSeq XP_011520455 XM_011522153.1 # SIMILARITY Belongs to the ligand-gated ion channel (TC 1.A.9) family. {ECO 0000305}. # SUBCELLULAR LOCATION CRFM7_HUMAN Membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. # SUPFAM SSF63712 SSF63712 # SUPFAM SSF90112 SSF90112 # TIGRFAMs TIGR00860 LIC # TISSUE SPECIFICITY Expressed in hippocampus. {ECO:0000269|PubMed 9782083}. # UCSC uc001zdt human # eggNOG ENOG410XQGR LUCA # eggNOG KOG3645 Eukaryota BLAST swissprot:CRFM7_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CRFM7_HUMAN COXPRESdb 89832 http://coxpresdb.jp/data/gene/89832.shtml CleanEx HS_CHRFAM7A http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CHRFAM7A DOI 10.1006/geno.1998.5363 http://dx.doi.org/10.1006/geno.1998.5363 DOI 10.1038/nature04601 http://dx.doi.org/10.1038/nature04601 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AC010799 http://www.ebi.ac.uk/ena/data/view/AC010799 EMBL AC019322 http://www.ebi.ac.uk/ena/data/view/AC019322 EMBL AF029838 http://www.ebi.ac.uk/ena/data/view/AF029838 EMBL AK292984 http://www.ebi.ac.uk/ena/data/view/AK292984 EMBL BC101346 http://www.ebi.ac.uk/ena/data/view/BC101346 EMBL BC101347 http://www.ebi.ac.uk/ena/data/view/BC101347 EMBL BC101348 http://www.ebi.ac.uk/ena/data/view/BC101348 Ensembl ENST00000299847 http://www.ensembl.org/id/ENST00000299847 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005230 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005230 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 Gene3D 1.20.120.370 http://www.cathdb.info/version/latest/superfamily/1.20.120.370 Gene3D 2.70.170.10 http://www.cathdb.info/version/latest/superfamily/2.70.170.10 GeneCards CHRFAM7A http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CHRFAM7A GeneID 89832 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=89832 GeneTree ENSGT00790000122957 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00790000122957 H-InvDB HIX0038397 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0038397 HGNC HGNC:15781 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:15781 HOGENOM HOG000006756 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000006756&db=HOGENOM6 HOVERGEN HBG003756 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG003756&db=HOVERGEN InParanoid Q494W8 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q494W8 InterPro IPR006029 http://www.ebi.ac.uk/interpro/entry/IPR006029 InterPro IPR006201 http://www.ebi.ac.uk/interpro/entry/IPR006201 InterPro IPR006202 http://www.ebi.ac.uk/interpro/entry/IPR006202 InterPro IPR018000 http://www.ebi.ac.uk/interpro/entry/IPR018000 InterPro IPR027361 http://www.ebi.ac.uk/interpro/entry/IPR027361 Jabion 89832 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=89832 KEGG_Gene hsa:89832 http://www.genome.jp/dbget-bin/www_bget?hsa:89832 MIM 609756 http://www.ncbi.nlm.nih.gov/omim/609756 OMA STGYCQY http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=STGYCQY OrthoDB EOG091G0R20 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0R20 PANTHER PTHR18945 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR18945 PROSITE PS00236 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00236 PSORT swissprot:CRFM7_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CRFM7_HUMAN PSORT-B swissprot:CRFM7_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CRFM7_HUMAN PSORT2 swissprot:CRFM7_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CRFM7_HUMAN Pfam PF02931 http://pfam.xfam.org/family/PF02931 Pfam PF02932 http://pfam.xfam.org/family/PF02932 PharmGKB PA26483 http://www.pharmgkb.org/do/serve?objId=PA26483&objCls=Gene Phobius swissprot:CRFM7_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CRFM7_HUMAN PhylomeDB Q494W8 http://phylomedb.org/?seqid=Q494W8 ProteinModelPortal Q494W8 http://www.proteinmodelportal.org/query/uniprot/Q494W8 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16572171 http://www.ncbi.nlm.nih.gov/pubmed/16572171 PubMed 9782083 http://www.ncbi.nlm.nih.gov/pubmed/9782083 RefSeq NP_647536 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_647536 RefSeq XP_011520455 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011520455 STRING 9606.ENSP00000299847 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000299847&targetmode=cogs SUPFAM SSF63712 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF63712 SUPFAM SSF90112 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF90112 TIGRFAMs TIGR00860 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00860 UCSC uc001zdt http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001zdt&org=rat UniGene Hs.510853 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.510853 UniProtKB CRFM7_HUMAN http://www.uniprot.org/uniprot/CRFM7_HUMAN UniProtKB-AC Q494W8 http://www.uniprot.org/uniprot/Q494W8 charge swissprot:CRFM7_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CRFM7_HUMAN eggNOG ENOG410XQGR http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XQGR eggNOG KOG3645 http://eggnogapi.embl.de/nog_data/html/tree/KOG3645 epestfind swissprot:CRFM7_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CRFM7_HUMAN garnier swissprot:CRFM7_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CRFM7_HUMAN helixturnhelix swissprot:CRFM7_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CRFM7_HUMAN hmoment swissprot:CRFM7_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CRFM7_HUMAN iep swissprot:CRFM7_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CRFM7_HUMAN inforesidue swissprot:CRFM7_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CRFM7_HUMAN neXtProt NX_Q494W8 http://www.nextprot.org/db/entry/NX_Q494W8 octanol swissprot:CRFM7_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CRFM7_HUMAN pepcoil swissprot:CRFM7_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CRFM7_HUMAN pepdigest swissprot:CRFM7_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CRFM7_HUMAN pepinfo swissprot:CRFM7_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CRFM7_HUMAN pepnet swissprot:CRFM7_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CRFM7_HUMAN pepstats swissprot:CRFM7_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CRFM7_HUMAN pepwheel swissprot:CRFM7_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CRFM7_HUMAN pepwindow swissprot:CRFM7_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CRFM7_HUMAN sigcleave swissprot:CRFM7_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CRFM7_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS AQP1_HUMAN Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=P29972-1; Sequence=Displayed; Name=2; IsoId=P29972-2; Sequence=VSP_046109, VSP_046110; Note=No experimental confirmation available.; Name=3; IsoId=P29972-3; Sequence=VSP_046679; Note=Gene prediction based on EST data.; Name=4; IsoId=P29972-4; Sequence=VSP_046680, VSP_046681; Note=Gene prediction based on EST data.; # AltName AQP1_HUMAN Aquaporin-CHIP # AltName AQP1_HUMAN Urine water channel # AltName AQP1_HUMAN Water channel protein for red blood cells and kidney proximal tubule # BioGrid 106854 42 # CCDS CCDS5431 -. [P29972-1] # CDD cd00333 MIP # ChiTaRS AQP1 human # DOMAIN AQP1_HUMAN Aquaporins contain two tandem repeats each containing three membrane-spanning domains and a pore-forming loop with the signature motif Asn-Pro-Ala (NPA). # DrugBank DB00819 Acetazolamide # Ensembl ENST00000311813 ENSP00000311165; ENSG00000240583. [P29972-1] # Ensembl ENST00000409611 ENSP00000387178; ENSG00000240583. [P29972-3] # Ensembl ENST00000409899 ENSP00000386712; ENSG00000240583. [P29972-4] # Ensembl ENST00000441328 ENSP00000405698; ENSG00000240583. [P29972-2] # ExpressionAtlas P29972 baseline and differential # FUNCTION AQP1_HUMAN Forms a water-specific channel that provides the plasma membranes of red cells and kidney proximal tubules with high permeability to water, thereby permitting water to move in the direction of an osmotic gradient. {ECO 0000269|PubMed 1373524}. # GO_component GO:0005634 nucleus; IDA:UniProtKB. # GO_component GO:0005737 cytoplasm; IDA:UniProtKB. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0005903 brush border; IDA:UniProtKB. # GO_component GO:0009925 basal plasma membrane; IDA:UniProtKB. # GO_component GO:0016323 basolateral plasma membrane; IDA:UniProtKB. # GO_component GO:0016324 apical plasma membrane; IDA:UniProtKB. # GO_component GO:0020003 symbiont-containing vacuole; ISS:UniProtKB. # GO_component GO:0031526 brush border membrane; IDA:UniProtKB. # GO_component GO:0031965 nuclear membrane; IDA:UniProtKB. # GO_component GO:0042383 sarcolemma; IDA:UniProtKB. # GO_component GO:0045177 apical part of cell; IDA:UniProtKB. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0005223 intracellular cGMP activated cation channel activity; IDA:UniProtKB. # GO_function GO:0005267 potassium channel activity; IMP:UniProtKB. # GO_function GO:0005372 water transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0008519 ammonium transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0015079 potassium ion transmembrane transporter activity; ISS:UniProtKB. # GO_function GO:0015168 glycerol transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0015250 water channel activity; IDA:UniProtKB. # GO_function GO:0015254 glycerol channel activity; IBA:GO_Central. # GO_function GO:0022857 transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0030184 nitric oxide transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0035379 carbon dioxide transmembrane transporter activity; IDA:UniProtKB. # GO_process GO:0003091 renal water homeostasis; TAS:Reactome. # GO_process GO:0003097 renal water transport; IDA:UniProtKB. # GO_process GO:0006182 cGMP biosynthetic process; IDA:UniProtKB. # GO_process GO:0006813 potassium ion transport; ISS:UniProtKB. # GO_process GO:0006833 water transport; IDA:UniProtKB. # GO_process GO:0006884 cell volume homeostasis; IMP:UniProtKB. # GO_process GO:0009992 cellular water homeostasis; IBA:GO_Central. # GO_process GO:0015670 carbon dioxide transport; IDA:UniProtKB. # GO_process GO:0015696 ammonium transport; IDA:UniProtKB. # GO_process GO:0015701 bicarbonate transport; TAS:Reactome. # GO_process GO:0015793 glycerol transport; IDA:UniProtKB. # GO_process GO:0019725 cellular homeostasis; IDA:UniProtKB. # GO_process GO:0021670 lateral ventricle development; IEP:UniProtKB. # GO_process GO:0030157 pancreatic juice secretion; IEP:UniProtKB. # GO_process GO:0030185 nitric oxide transport; IDA:UniProtKB. # GO_process GO:0030950 establishment or maintenance of actin cytoskeleton polarity; IMP:UniProtKB. # GO_process GO:0033326 cerebrospinal fluid secretion; IEP:UniProtKB. # GO_process GO:0033554 cellular response to stress; IDA:UniProtKB. # GO_process GO:0034644 cellular response to UV; IDA:UniProtKB. # GO_process GO:0035377 transepithelial water transport; IDA:UniProtKB. # GO_process GO:0035378 carbon dioxide transmembrane transport; IDA:UniProtKB. # GO_process GO:0042476 odontogenesis; IEP:UniProtKB. # GO_process GO:0042493 response to drug; IDA:UniProtKB. # GO_process GO:0043066 negative regulation of apoptotic process; IDA:UniProtKB. # GO_process GO:0043154 negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; IMP:UniProtKB. # GO_process GO:0045766 positive regulation of angiogenesis; IMP:UniProtKB. # GO_process GO:0046878 positive regulation of saliva secretion; IMP:UniProtKB. # GO_process GO:0048146 positive regulation of fibroblast proliferation; IDA:UniProtKB. # GO_process GO:0050891 multicellular organismal water homeostasis; IEP:UniProtKB. # GO_process GO:0070301 cellular response to hydrogen peroxide; IDA:UniProtKB. # GO_process GO:0071241 cellular response to inorganic substance; IDA:UniProtKB. # GO_process GO:0071260 cellular response to mechanical stimulus; IDA:UniProtKB. # GO_process GO:0071280 cellular response to copper ion; IDA:UniProtKB. # GO_process GO:0071288 cellular response to mercury ion; IDA:UniProtKB. # GO_process GO:0071300 cellular response to retinoic acid; IDA:UniProtKB. # GO_process GO:0071320 cellular response to cAMP; IDA:UniProtKB. # GO_process GO:0071456 cellular response to hypoxia; IDA:UniProtKB. # GO_process GO:0071472 cellular response to salt stress; IDA:UniProtKB. # GO_process GO:0071474 cellular hyperosmotic response; IMP:UniProtKB. # GO_process GO:0071549 cellular response to dexamethasone stimulus; IDA:UniProtKB. # GO_process GO:0071732 cellular response to nitric oxide; IDA:UniProtKB. # GO_process GO:0085018 maintenance of symbiont-containing vacuole by host; IMP:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007010 cytoskeleton organization # GOslim_process GO:0008150 biological_process # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0044281 small molecule metabolic process # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.20.1080.10 -; 1. # Genevisible P29972 HS # HGNC HGNC:633 AQP1 # INTERACTION AQP1_HUMAN Q96JN2-2 CCDC136; NbExp=3; IntAct=EBI-745213, EBI-10171416; Q8IYA8 CCDC36; NbExp=3; IntAct=EBI-745213, EBI-8638439; Q2TAC2 CCDC57; NbExp=3; IntAct=EBI-745213, EBI-2808286; Q9C0F1 CEP44; NbExp=3; IntAct=EBI-745213, EBI-744115; Q9NQ79 CRTAC1; NbExp=3; IntAct=EBI-745213, EBI-10205543; Q96S65 CSRNP1; NbExp=3; IntAct=EBI-745213, EBI-4311573; Q6FG41 FOS; NbExp=3; IntAct=EBI-745213, EBI-10198738; A1L4K1 FSD2; NbExp=3; IntAct=EBI-745213, EBI-5661036; Q9UKS7 IKZF2; NbExp=3; IntAct=EBI-745213, EBI-3893057; Q9UKT9 IKZF3; NbExp=5; IntAct=EBI-745213, EBI-747204; Q7L273 KCTD9; NbExp=3; IntAct=EBI-745213, EBI-4397613; Q8N8K9 KIAA1958; NbExp=3; IntAct=EBI-745213, EBI-10181113; Q15323 KRT31; NbExp=3; IntAct=EBI-745213, EBI-948001; Q14525 KRT33B; NbExp=3; IntAct=EBI-745213, EBI-1049638; Q6A162 KRT40; NbExp=3; IntAct=EBI-745213, EBI-10171697; P60409 KRTAP10-7; NbExp=3; IntAct=EBI-745213, EBI-10172290; Q9BYR5 KRTAP4-2; NbExp=3; IntAct=EBI-745213, EBI-10172511; Q9BYQ4 KRTAP9-2; NbExp=3; IntAct=EBI-745213, EBI-1044640; Q99750 MDFI; NbExp=6; IntAct=EBI-745213, EBI-724076; Q9UJV3-2 MID2; NbExp=3; IntAct=EBI-745213, EBI-10172526; Q5JR59 MTUS2; NbExp=3; IntAct=EBI-745213, EBI-742948; Q7Z3S9 NOTCH2NL; NbExp=5; IntAct=EBI-745213, EBI-945833; Q9UGC6 RGS17; NbExp=5; IntAct=EBI-745213, EBI-3918154; O76081 RGS20; NbExp=3; IntAct=EBI-745213, EBI-1052678; O76081-6 RGS20; NbExp=3; IntAct=EBI-745213, EBI-10178530; Q9UFD9 RIMBP3; NbExp=3; IntAct=EBI-745213, EBI-10182375; Q8IUQ4 SIAH1; NbExp=3; IntAct=EBI-745213, EBI-747107; O43597 SPRY2; NbExp=3; IntAct=EBI-745213, EBI-742487; P15884 TCF4; NbExp=3; IntAct=EBI-745213, EBI-533224; Q07912 TNK2; NbExp=3; IntAct=EBI-745213, EBI-603457; Q13077 TRAF1; NbExp=3; IntAct=EBI-745213, EBI-359224; Q12933 TRAF2; NbExp=3; IntAct=EBI-745213, EBI-355744; P36406 TRIM23; NbExp=5; IntAct=EBI-745213, EBI-740098; Q15654 TRIP6; NbExp=6; IntAct=EBI-745213, EBI-742327; # IntAct P29972 68 # InterPro IPR000425 MIP # InterPro IPR022357 MIP_CS # InterPro IPR023271 Aquaporin-like # InterPro IPR023274 Aquaporin_1 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04964 Proximal tubule bicarbonate reclamation # KEGG_Pathway ko04976 Bile secretion # MIM 107776 gene # MIM 110450 phenotype # MISCELLANEOUS AQP1_HUMAN Pharmacologically inhibited by submillimolar concentrations of mercury. # Organism AQP1_HUMAN Homo sapiens (Human) # PANTHER PTHR19139 PTHR19139 # PDB 1FQY X-ray; 3.80 A; A=1-269 # PDB 1H6I X-ray; 3.54 A; A=1-269 # PDB 1IH5 X-ray; 3.70 A; A=1-269 # PDB 4CSK X-ray; 3.28 A; A=1-269 # PIR A41616 A41616 # PIR I52366 I52366 # POLYMORPHISM AQP1_HUMAN AQP1 is responsible for the Colton blood group system. Approximately 92% of Caucasians are Co(A+B-) (Ala-46), approximately 8% are Co(A+B+), and only 0.2% are Co(A-B+) (Val- 46). Co(A-B-) which is very rare, is due to a complete absence of AQP1. # PRINTS PR00783 MINTRINSICP # PRINTS PR02013 AQUAPORIN1 # PROSITE PS00221 MIP # Pfam PF00230 MIP # Proteomes UP000005640 Chromosome 7 # Reactome R-HSA-1237044 Erythrocytes take up carbon dioxide and release oxygen # Reactome R-HSA-1247673 Erythrocytes take up oxygen and release carbon dioxide # Reactome R-HSA-432040 Vasopressin regulates renal water homeostasis via Aquaporins # Reactome R-HSA-432047 Passive transport by Aquaporins # RecName AQP1_HUMAN Aquaporin-1 # RefSeq NP_932766 NM_198098.3. [P29972-1] # SIMILARITY Belongs to the MIP/aquaporin (TC 1.A.8) family. {ECO 0000305}. # SUBCELLULAR LOCATION AQP1_HUMAN Cell membrane {ECO 0000269|PubMed 23219802}; Multi-pass membrane protein {ECO 0000269|PubMed 23219802}. # SUBUNIT Homotetramer. Interacts with EPHB2; involved in endolymph production in the inner ear (By similarity). Identified in a complex with STOM. {ECO:0000250, ECO 0000269|PubMed:23219802}. # SUPFAM SSF81338 SSF81338 # TCDB 1.A.8.8 the major intrinsic protein (mip) family # TIGRFAMs TIGR00861 MIP # TISSUE SPECIFICITY Detected in erythrocytes (at protein level). Expressed in a number of tissues including erythrocytes, renal tubules, retinal pigment epithelium, heart, lung, skeletal muscle, kidney and pancreas. Weakly expressed in brain, placenta and liver. {ECO:0000269|PubMed 23219802}. # UCSC uc003tbv human. [P29972-1] # WEB RESOURCE AQP1_HUMAN Name=Protein Spotlight; Note=Liquid states - Issue 36 of July 2003; URL="http //web.expasy.org/spotlight/back_issues/036"; # WEB RESOURCE AQP1_HUMAN Name=SeattleSNPs; URL="http //pga.gs.washington.edu/data/aqp1/"; # WEB RESOURCE AQP1_HUMAN Name=dbRBC/BGMUT; Note=Blood group antigen gene mutation database; URL="https //www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/systems_info&system=colton"; # eggNOG COG0580 LUCA # eggNOG KOG0223 Eukaryota BLAST swissprot:AQP1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:AQP1_HUMAN BioCyc ZFISH:ENSG00000106125-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000106125-MONOMER COXPRESdb 358 http://coxpresdb.jp/data/gene/358.shtml CleanEx HS_AQP1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_AQP1 DIP DIP-29607N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-29607N DOI 10.1016/0005-2736(96)00076-4 http://dx.doi.org/10.1016/0005-2736(96)00076-4 DOI 10.1016/S0014-5793(01)02743-0 http://dx.doi.org/10.1016/S0014-5793(01)02743-0 DOI 10.1016/j.bbamem.2012.11.030 http://dx.doi.org/10.1016/j.bbamem.2012.11.030 DOI 10.1038/35036519 http://dx.doi.org/10.1038/35036519 DOI 10.1038/42512 http://dx.doi.org/10.1038/42512 DOI 10.1038/nature01782 http://dx.doi.org/10.1038/nature01782 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1038/nmeth.1273 http://dx.doi.org/10.1038/nmeth.1273 DOI 10.1073/pnas.88.24.11110 http://dx.doi.org/10.1073/pnas.88.24.11110 DOI 10.1073/pnas.98.4.1398 http://dx.doi.org/10.1073/pnas.98.4.1398 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.256.5055.385 http://dx.doi.org/10.1126/science.256.5055.385 DOI 10.1126/science.7521540 http://dx.doi.org/10.1126/science.7521540 DOI 10.1172/JCI117418 http://dx.doi.org/10.1172/JCI117418 DrugBank DB00819 http://www.drugbank.ca/drugs/DB00819 EMBL AB451275 http://www.ebi.ac.uk/ena/data/view/AB451275 EMBL AB451402 http://www.ebi.ac.uk/ena/data/view/AB451402 EMBL AC004691 http://www.ebi.ac.uk/ena/data/view/AC004691 EMBL AC005155 http://www.ebi.ac.uk/ena/data/view/AC005155 EMBL AF480415 http://www.ebi.ac.uk/ena/data/view/AF480415 EMBL AK309608 http://www.ebi.ac.uk/ena/data/view/AK309608 EMBL AY953319 http://www.ebi.ac.uk/ena/data/view/AY953319 EMBL BC022486 http://www.ebi.ac.uk/ena/data/view/BC022486 EMBL CH471073 http://www.ebi.ac.uk/ena/data/view/CH471073 EMBL M77829 http://www.ebi.ac.uk/ena/data/view/M77829 EMBL S73482 http://www.ebi.ac.uk/ena/data/view/S73482 EMBL U41517 http://www.ebi.ac.uk/ena/data/view/U41517 EMBL U41518 http://www.ebi.ac.uk/ena/data/view/U41518 Ensembl ENST00000311813 http://www.ensembl.org/id/ENST00000311813 Ensembl ENST00000409611 http://www.ensembl.org/id/ENST00000409611 Ensembl ENST00000409899 http://www.ensembl.org/id/ENST00000409899 Ensembl ENST00000441328 http://www.ensembl.org/id/ENST00000441328 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0005903 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005903 GO_component GO:0009925 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009925 GO_component GO:0016323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016323 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:0020003 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0020003 GO_component GO:0031526 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031526 GO_component GO:0031965 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031965 GO_component GO:0042383 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042383 GO_component GO:0045177 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045177 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0005223 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005223 GO_function GO:0005267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005267 GO_function GO:0005372 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005372 GO_function GO:0008519 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008519 GO_function GO:0015079 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015079 GO_function GO:0015168 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015168 GO_function GO:0015250 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015250 GO_function GO:0015254 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015254 GO_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GO_function GO:0030184 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030184 GO_function GO:0035379 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035379 GO_process GO:0003091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003091 GO_process GO:0003097 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003097 GO_process GO:0006182 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006182 GO_process GO:0006813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006813 GO_process GO:0006833 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006833 GO_process GO:0006884 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006884 GO_process GO:0009992 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009992 GO_process GO:0015670 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015670 GO_process GO:0015696 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015696 GO_process GO:0015701 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015701 GO_process GO:0015793 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015793 GO_process GO:0019725 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019725 GO_process GO:0021670 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021670 GO_process GO:0030157 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030157 GO_process GO:0030185 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030185 GO_process GO:0030950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030950 GO_process GO:0033326 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033326 GO_process GO:0033554 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033554 GO_process GO:0034644 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034644 GO_process GO:0035377 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035377 GO_process GO:0035378 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035378 GO_process GO:0042476 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042476 GO_process GO:0042493 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042493 GO_process GO:0043066 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043066 GO_process GO:0043154 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043154 GO_process GO:0045766 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045766 GO_process GO:0046878 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046878 GO_process GO:0048146 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048146 GO_process GO:0050891 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050891 GO_process GO:0070301 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070301 GO_process GO:0071241 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071241 GO_process GO:0071260 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071260 GO_process GO:0071280 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071280 GO_process GO:0071288 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071288 GO_process GO:0071300 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071300 GO_process GO:0071320 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071320 GO_process GO:0071456 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071456 GO_process GO:0071472 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071472 GO_process GO:0071474 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071474 GO_process GO:0071549 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071549 GO_process GO:0071732 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071732 GO_process GO:0085018 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0085018 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007010 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007010 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.20.1080.10 http://www.cathdb.info/version/latest/superfamily/1.20.1080.10 GeneCards AQP1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=AQP1 GeneID 358 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=358 GeneTree ENSGT00760000119223 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119223 HGNC HGNC:633 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:633 HOGENOM HOG000288286 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000288286&db=HOGENOM6 HOVERGEN HBG000312 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG000312&db=HOVERGEN HPA CAB001707 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB001707 HPA HPA019206 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA019206 InParanoid P29972 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P29972 IntAct P29972 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P29972* InterPro IPR000425 http://www.ebi.ac.uk/interpro/entry/IPR000425 InterPro IPR022357 http://www.ebi.ac.uk/interpro/entry/IPR022357 InterPro IPR023271 http://www.ebi.ac.uk/interpro/entry/IPR023271 InterPro IPR023274 http://www.ebi.ac.uk/interpro/entry/IPR023274 Jabion 358 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=358 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:358 http://www.genome.jp/dbget-bin/www_bget?hsa:358 KEGG_Orthology KO:K09864 http://www.genome.jp/dbget-bin/www_bget?KO:K09864 KEGG_Pathway ko04964 http://www.genome.jp/kegg-bin/show_pathway?ko04964 KEGG_Pathway ko04976 http://www.genome.jp/kegg-bin/show_pathway?ko04976 MIM 107776 http://www.ncbi.nlm.nih.gov/omim/107776 MIM 110450 http://www.ncbi.nlm.nih.gov/omim/110450 MINT MINT-1439356 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1439356 OMA MLICKLA http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=MLICKLA OrthoDB EOG091G166T http://cegg.unige.ch/orthodb/results?searchtext=EOG091G166T PANTHER PTHR19139 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR19139 PDB 1FQY http://www.ebi.ac.uk/pdbe-srv/view/entry/1FQY PDB 1H6I http://www.ebi.ac.uk/pdbe-srv/view/entry/1H6I PDB 1IH5 http://www.ebi.ac.uk/pdbe-srv/view/entry/1IH5 PDB 4CSK http://www.ebi.ac.uk/pdbe-srv/view/entry/4CSK PDBsum 1FQY http://www.ebi.ac.uk/pdbsum/1FQY PDBsum 1H6I http://www.ebi.ac.uk/pdbsum/1H6I PDBsum 1IH5 http://www.ebi.ac.uk/pdbsum/1IH5 PDBsum 4CSK http://www.ebi.ac.uk/pdbsum/4CSK PRINTS PR00783 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00783 PRINTS PR02013 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR02013 PROSITE PS00221 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00221 PSORT swissprot:AQP1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:AQP1_HUMAN PSORT-B swissprot:AQP1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:AQP1_HUMAN PSORT2 swissprot:AQP1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:AQP1_HUMAN Pfam PF00230 http://pfam.xfam.org/family/PF00230 PharmGKB PA24918 http://www.pharmgkb.org/do/serve?objId=PA24918&objCls=Gene Phobius swissprot:AQP1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:AQP1_HUMAN PhylomeDB P29972 http://phylomedb.org/?seqid=P29972 ProteinModelPortal P29972 http://www.proteinmodelportal.org/query/uniprot/P29972 PubMed 11034202 http://www.ncbi.nlm.nih.gov/pubmed/11034202 PubMed 11171962 http://www.ncbi.nlm.nih.gov/pubmed/11171962 PubMed 11532455 http://www.ncbi.nlm.nih.gov/pubmed/11532455 PubMed 12853948 http://www.ncbi.nlm.nih.gov/pubmed/12853948 PubMed 1373524 http://www.ncbi.nlm.nih.gov/pubmed/1373524 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 1722319 http://www.ncbi.nlm.nih.gov/pubmed/1722319 PubMed 19054851 http://www.ncbi.nlm.nih.gov/pubmed/19054851 PubMed 2007592 http://www.ncbi.nlm.nih.gov/pubmed/2007592 PubMed 23219802 http://www.ncbi.nlm.nih.gov/pubmed/23219802 PubMed 7507481 http://www.ncbi.nlm.nih.gov/pubmed/7507481 PubMed 7517253 http://www.ncbi.nlm.nih.gov/pubmed/7517253 PubMed 7518771 http://www.ncbi.nlm.nih.gov/pubmed/7518771 PubMed 7521540 http://www.ncbi.nlm.nih.gov/pubmed/7521540 PubMed 7521882 http://www.ncbi.nlm.nih.gov/pubmed/7521882 PubMed 7677994 http://www.ncbi.nlm.nih.gov/pubmed/7677994 PubMed 8340403 http://www.ncbi.nlm.nih.gov/pubmed/8340403 PubMed 8703970 http://www.ncbi.nlm.nih.gov/pubmed/8703970 PubMed 9177353 http://www.ncbi.nlm.nih.gov/pubmed/9177353 Reactome R-HSA-1237044 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1237044 Reactome R-HSA-1247673 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1247673 Reactome R-HSA-432040 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-432040 Reactome R-HSA-432047 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-432047 RefSeq NP_932766 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_932766 SMR P29972 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P29972 STRING 9606.ENSP00000311165 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000311165&targetmode=cogs SUPFAM SSF81338 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81338 TCDB 1.A.8.8 http://www.tcdb.org/search/result.php?tc=1.A.8.8 TIGRFAMs TIGR00861 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00861 UCSC uc003tbv http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003tbv&org=rat UniGene Hs.76152 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.76152 UniProtKB AQP1_HUMAN http://www.uniprot.org/uniprot/AQP1_HUMAN UniProtKB-AC P29972 http://www.uniprot.org/uniprot/P29972 charge swissprot:AQP1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:AQP1_HUMAN eggNOG COG0580 http://eggnogapi.embl.de/nog_data/html/tree/COG0580 eggNOG KOG0223 http://eggnogapi.embl.de/nog_data/html/tree/KOG0223 epestfind swissprot:AQP1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:AQP1_HUMAN garnier swissprot:AQP1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:AQP1_HUMAN helixturnhelix swissprot:AQP1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:AQP1_HUMAN hmoment swissprot:AQP1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:AQP1_HUMAN iep swissprot:AQP1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:AQP1_HUMAN inforesidue swissprot:AQP1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:AQP1_HUMAN neXtProt NX_P29972 http://www.nextprot.org/db/entry/NX_P29972 octanol swissprot:AQP1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:AQP1_HUMAN pepcoil swissprot:AQP1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:AQP1_HUMAN pepdigest swissprot:AQP1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:AQP1_HUMAN pepinfo swissprot:AQP1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:AQP1_HUMAN pepnet swissprot:AQP1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:AQP1_HUMAN pepstats swissprot:AQP1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:AQP1_HUMAN pepwheel swissprot:AQP1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:AQP1_HUMAN pepwindow swissprot:AQP1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:AQP1_HUMAN sigcleave swissprot:AQP1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:AQP1_HUMAN ## Database ID URL or Descriptions # AltName S20A1_HUMAN Gibbon ape leukemia virus receptor 1 # AltName S20A1_HUMAN Leukemia virus receptor 1 homolog # AltName S20A1_HUMAN Phosphate transporter 1 # AltName S20A1_HUMAN Solute carrier family 20 member 1 # BIOPHYSICOCHEMICAL PROPERTIES S20A1_HUMAN Kinetic parameters KM=24.1 uM for phosphate {ECO 0000269|PubMed 7929240, ECO 0000269|PubMed 8041748}; Vmax=1.9 nmol/min/mg enzyme (in the presence of 0.05-2 mM phosphate) {ECO 0000269|PubMed 7929240, ECO 0000269|PubMed 8041748}; Note=With an increase in pH, a decrease in phosphate uptake is observed.; pH dependence Optimum pH is 6.5 and 7.5. {ECO 0000269|PubMed 7929240, ECO 0000269|PubMed 8041748}; # BRENDA 3.6.3.27 2681 # BioGrid 112462 25 # ChiTaRS SLC20A1 human # DOMAIN S20A1_HUMAN Region A confers human cells susceptibility to infection by Gibbon Ape Leukemia Virus (GaLV) and Feline leukemia virus subgroup B (FeLV-B). Substitution of Human SLC20A1 region A by region A of murine SLC20A1 prevents viral infection. # Ensembl ENST00000272542 ENSP00000272542; ENSG00000144136 # ExpressionAtlas Q8WUM9 baseline and differential # FUNCTION S20A1_HUMAN Sodium-phosphate symporter which plays a fundamental housekeeping role in phosphate transport, such as absorbing phosphate from interstitial fluid for normal cellular functions such as cellular metabolism, signal transduction, and nucleic acid and lipid synthesis. May play a role in extracellular matrix and cartilage calcification as well as in vascular calcification. May function as a retroviral receptor as it confers human cells susceptibility to infection to Gibbon Ape Leukemia Virus (GaLV), Simian sarcoma-associated virus (SSAV) and Feline leukemia virus subgroup B (FeLV-B) as well as 10A1 murine leukemia virus (10A1 MLV). {ECO 0000269|PubMed 11009570, ECO 0000269|PubMed 12097582, ECO 0000269|PubMed 1309898, ECO 0000269|PubMed 1531369, ECO 0000269|PubMed 2078500, ECO 0000269|PubMed 7929240, ECO 0000269|PubMed 7966619, ECO 0000269|PubMed 8041748}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0016020 membrane; TAS:ProtInc. # GO_function GO:0004871 signal transducer activity; IMP:UniProtKB. # GO_function GO:0004872 receptor activity; TAS:ProtInc. # GO_function GO:0005315 inorganic phosphate transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015321 sodium-dependent phosphate transmembrane transporter activity; TAS:Reactome. # GO_function S20A1_HUMAN GO 0005316 high-affinity inorganic phosphate sodium symporter activity; IEA Ensembl. # GO_function S20A1_HUMAN GO 0005436 sodium phosphate symporter activity; TAS ProtInc. # GO_function S20A1_HUMAN GO 0015319 sodium inorganic phosphate symporter activity; IBA GO_Central. # GO_process GO:0006796 phosphate-containing compound metabolic process; TAS:ProtInc. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0006811 ion transport; TAS:Reactome. # GO_process GO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling; IMP:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # Genevisible Q8WUM9 HS # HGNC HGNC:10946 SLC20A1 # INDUCTION S20A1_HUMAN By phosphate deprivation as well as by IL8/interleukin- 8 in hypertrophic chondrocytes. {ECO 0000269|PubMed 15641067, ECO 0000269|PubMed 8041748}. # IntAct Q8WUM9 6 # InterPro IPR001204 Phos_transporter # KEGG_Brite ko02001 Solute carrier family # MIM 137570 gene # Organism S20A1_HUMAN Homo sapiens (Human) # PANTHER PTHR11101 PTHR11101; 2 # PIR I52822 I52822 # Pfam PF01384 PHO4 # Proteomes UP000005640 Chromosome 2 # Reactome R-HSA-427652 Sodium-coupled phosphate cotransporters # RecName S20A1_HUMAN Sodium-dependent phosphate transporter 1 # RefSeq NP_005406 NM_005415.4 # SIMILARITY Belongs to the inorganic phosphate transporter (PiT) (TC 2.A.20) family. {ECO 0000305}. # SUBCELLULAR LOCATION S20A1_HUMAN Membrane; Multi-pass membrane protein. # TCDB 2.A.20.2 the inorganic phosphate transporter (pit) family # TISSUE SPECIFICITY Ubiquitously expressed. {ECO:0000269|PubMed 2078500}. # UCSC uc002tib human # eggNOG COG0306 LUCA # eggNOG KOG2493 Eukaryota BLAST swissprot:S20A1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S20A1_HUMAN BioCyc ZFISH:ENSG00000144136-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000144136-MONOMER COXPRESdb 6574 http://coxpresdb.jp/data/gene/6574.shtml CleanEx HS_SLC20A1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC20A1 DOI 10.1002/art.20748 http://dx.doi.org/10.1002/art.20748 DOI 10.1016/S0378-1119(98)00572-1 http://dx.doi.org/10.1016/S0378-1119(98)00572-1 DOI 10.1021/ac9004309 http://dx.doi.org/10.1021/ac9004309 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1073/pnas.91.15.7071 http://dx.doi.org/10.1073/pnas.91.15.7071 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1128/JVI.76.15.7683-7693.2002 http://dx.doi.org/10.1128/JVI.76.15.7683-7693.2002 DOI 10.1161/01.RES.87.7.e10 http://dx.doi.org/10.1161/01.RES.87.7.e10 EMBL AC079922 http://www.ebi.ac.uk/ena/data/view/AC079922 EMBL AH007490 http://www.ebi.ac.uk/ena/data/view/AH007490 EMBL BC019944 http://www.ebi.ac.uk/ena/data/view/BC019944 EMBL BC075818 http://www.ebi.ac.uk/ena/data/view/BC075818 EMBL L20859 http://www.ebi.ac.uk/ena/data/view/L20859 Ensembl ENST00000272542 http://www.ensembl.org/id/ENST00000272542 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GO_function GO:0004872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004872 GO_function GO:0005315 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005315 GO_function GO:0005316 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005316 GO_function GO:0005436 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005436 GO_function GO:0015319 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015319 GO_function GO:0015321 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015321 GO_process GO:0006796 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006796 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0006811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006811 GO_process GO:0043123 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043123 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GeneCards SLC20A1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC20A1 GeneID 6574 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6574 GeneTree ENSGT00390000014879 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000014879 HGNC HGNC:10946 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10946 HOGENOM HOG000231892 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231892&db=HOGENOM6 HOVERGEN HBG053358 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG053358&db=HOVERGEN HPA CAB019279 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB019279 HPA HPA035834 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA035834 InParanoid Q8WUM9 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8WUM9 IntAct Q8WUM9 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q8WUM9* InterPro IPR001204 http://www.ebi.ac.uk/interpro/entry/IPR001204 Jabion 6574 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6574 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:6574 http://www.genome.jp/dbget-bin/www_bget?hsa:6574 KEGG_Orthology KO:K14640 http://www.genome.jp/dbget-bin/www_bget?KO:K14640 MIM 137570 http://www.ncbi.nlm.nih.gov/omim/137570 OMA WINLATW http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=WINLATW OrthoDB EOG091G07J5 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G07J5 PANTHER PTHR11101 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11101 PSORT swissprot:S20A1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S20A1_HUMAN PSORT-B swissprot:S20A1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S20A1_HUMAN PSORT2 swissprot:S20A1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S20A1_HUMAN Pfam PF01384 http://pfam.xfam.org/family/PF01384 PharmGKB PA35833 http://www.pharmgkb.org/do/serve?objId=PA35833&objCls=Gene Phobius swissprot:S20A1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S20A1_HUMAN PhylomeDB Q8WUM9 http://phylomedb.org/?seqid=Q8WUM9 ProteinModelPortal Q8WUM9 http://www.proteinmodelportal.org/query/uniprot/Q8WUM9 PubMed 11009570 http://www.ncbi.nlm.nih.gov/pubmed/11009570 PubMed 12097582 http://www.ncbi.nlm.nih.gov/pubmed/12097582 PubMed 1309898 http://www.ncbi.nlm.nih.gov/pubmed/1309898 PubMed 1531369 http://www.ncbi.nlm.nih.gov/pubmed/1531369 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15641067 http://www.ncbi.nlm.nih.gov/pubmed/15641067 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 19413330 http://www.ncbi.nlm.nih.gov/pubmed/19413330 PubMed 2078500 http://www.ncbi.nlm.nih.gov/pubmed/2078500 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 7929240 http://www.ncbi.nlm.nih.gov/pubmed/7929240 PubMed 7966619 http://www.ncbi.nlm.nih.gov/pubmed/7966619 PubMed 8041748 http://www.ncbi.nlm.nih.gov/pubmed/8041748 PubMed 8411375 http://www.ncbi.nlm.nih.gov/pubmed/8411375 PubMed 9889306 http://www.ncbi.nlm.nih.gov/pubmed/9889306 Reactome R-HSA-427652 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-427652 RefSeq NP_005406 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_005406 STRING 9606.ENSP00000272542 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000272542&targetmode=cogs TCDB 2.A.20.2 http://www.tcdb.org/search/result.php?tc=2.A.20.2 UCSC uc002tib http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002tib&org=rat UniGene Hs.187946 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.187946 UniGene Hs.732750 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.732750 UniProtKB S20A1_HUMAN http://www.uniprot.org/uniprot/S20A1_HUMAN UniProtKB-AC Q8WUM9 http://www.uniprot.org/uniprot/Q8WUM9 charge swissprot:S20A1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S20A1_HUMAN eggNOG COG0306 http://eggnogapi.embl.de/nog_data/html/tree/COG0306 eggNOG KOG2493 http://eggnogapi.embl.de/nog_data/html/tree/KOG2493 epestfind swissprot:S20A1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S20A1_HUMAN garnier swissprot:S20A1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S20A1_HUMAN helixturnhelix swissprot:S20A1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S20A1_HUMAN hmoment swissprot:S20A1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S20A1_HUMAN iep swissprot:S20A1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S20A1_HUMAN inforesidue swissprot:S20A1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S20A1_HUMAN neXtProt NX_Q8WUM9 http://www.nextprot.org/db/entry/NX_Q8WUM9 octanol swissprot:S20A1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S20A1_HUMAN pepcoil swissprot:S20A1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S20A1_HUMAN pepdigest swissprot:S20A1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S20A1_HUMAN pepinfo swissprot:S20A1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S20A1_HUMAN pepnet swissprot:S20A1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S20A1_HUMAN pepstats swissprot:S20A1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S20A1_HUMAN pepwheel swissprot:S20A1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S20A1_HUMAN pepwindow swissprot:S20A1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S20A1_HUMAN sigcleave swissprot:S20A1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S20A1_HUMAN ## Database ID URL or Descriptions # AltName AT1B2_HUMAN Adhesion molecule in glia # AltName AT1B2_HUMAN Sodium/potassium-dependent ATPase subunit beta-2 # BioGrid 106972 8 # ChiTaRS ATP1B2 human # DOMAIN AT1B2_HUMAN The C-terminal lobe folds into an immunoglobulin-like domain and mediates cell adhesion properties. {ECO 0000250}. # Ensembl ENST00000250111 ENSP00000250111; ENSG00000129244 # ExpressionAtlas P14415 baseline and differential # FUNCTION AT1B2_HUMAN Mediates cell adhesion of neurons and astrocytes, and promotes neurite outgrowth. {ECO 0000250}. # FUNCTION AT1B2_HUMAN This is the non-catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of Na(+) and K(+) ions across the plasma membrane. The exact function of the beta-2 subunit is not known. # GO_component AT1B2_HUMAN GO 0005890 sodium potassium-exchanging ATPase complex; IDA BHF-UCL. # GO_component GO:0005737 cytoplasm; IEA:Ensembl. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0016324 apical plasma membrane; IEA:Ensembl. # GO_function AT1B2_HUMAN GO 0005391 sodium potassium-exchanging ATPase activity; IDA BHF-UCL. # GO_function GO:0001671 ATPase activator activity; IDA:BHF-UCL. # GO_function GO:0051117 ATPase binding; IPI:BHF-UCL. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0006883 cellular sodium ion homeostasis; IDA:BHF-UCL. # GO_process GO:0007155 cell adhesion; IEA:UniProtKB-KW. # GO_process GO:0010107 potassium ion import; IDA:BHF-UCL. # GO_process GO:0030007 cellular potassium ion homeostasis; IDA:BHF-UCL. # GO_process GO:0032781 positive regulation of ATPase activity; IDA:BHF-UCL. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0036376 sodium ion export from cell; IDA:BHF-UCL. # GO_process GO:0050821 protein stabilization; IDA:BHF-UCL. # GO_process GO:0050900 leukocyte migration; TAS:Reactome. # GO_process GO:0086009 membrane repolarization; IDA:BHF-UCL. # GO_process GO:0086064 cell communication by electrical coupling involved in cardiac conduction; TAS:BHF-UCL. # GO_process GO:1901018 positive regulation of potassium ion transmembrane transporter activity; IDA:BHF-UCL. # GO_process GO:1903278 positive regulation of sodium ion export from cell; IDA:BHF-UCL. # GO_process GO:1903288 positive regulation of potassium ion import; IDA:BHF-UCL. # GO_process GO:1903779 regulation of cardiac conduction; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0019899 enzyme binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0030234 enzyme regulator activity # GOslim_process GO:0002376 immune system process # GOslim_process GO:0006810 transport # GOslim_process GO:0007155 cell adhesion # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0048870 cell motility # GOslim_process GO:0055085 transmembrane transport # Genevisible P14415 HS # HGNC HGNC:805 ATP1B2 # InterPro IPR000402 Na/K_ATPase_sub_beta # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04090 Cellular antigens # KEGG_Pathway ko04260 Cardiac muscle contraction # KEGG_Pathway ko04960 Aldosterone-regulated sodium reabsorption # KEGG_Pathway ko04961 Endocrine and other factor-regulated calcium reabsorption # KEGG_Pathway ko04964 Proximal tubule bicarbonate reclamation # KEGG_Pathway ko04970 Salivary secretion # KEGG_Pathway ko04971 Gastric acid secretion # KEGG_Pathway ko04972 Pancreatic secretion # KEGG_Pathway ko04973 Carbohydrate digestion and absorption # KEGG_Pathway ko04974 Protein digestion and absorption # KEGG_Pathway ko04976 Bile secretion # KEGG_Pathway ko04978 Mineral absorption # MIM 182331 gene # Organism AT1B2_HUMAN Homo sapiens (Human) # PANTHER PTHR11523 PTHR11523 # PIR B32459 B32459 # PIR JC5107 JC5107 # PROSITE PS00390 ATPASE_NA_K_BETA_1 # PROSITE PS00391 ATPASE_NA_K_BETA_2 # Pfam PF00287 Na_K-ATPase # Proteomes UP000005640 Chromosome 17 # Reactome R-HSA-210991 Basigin interactions # Reactome R-HSA-5578775 Ion homeostasis # Reactome R-HSA-936837 Ion transport by P-type ATPases # RecName AT1B2_HUMAN Sodium/potassium-transporting ATPase subunit beta-2 # RefSeq NP_001290192 NM_001303263.1 # RefSeq NP_001669 NM_001678.4 # SIMILARITY Belongs to the X(+)/potassium ATPases subunit beta family. {ECO 0000305}. # SUBCELLULAR LOCATION AT1B2_HUMAN Cell membrane; Single-pass type II membrane protein. # SUBUNIT Composed of three subunits alpha (catalytic), beta and gamma. # TIGRFAMs TIGR01107 Na_K_ATPase_bet # UCSC uc002gif human # eggNOG ENOG411150A LUCA # eggNOG KOG3927 Eukaryota BLAST swissprot:AT1B2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:AT1B2_HUMAN BioCyc ZFISH:HS05260-MONOMER http://biocyc.org/getid?id=ZFISH:HS05260-MONOMER COXPRESdb 482 http://coxpresdb.jp/data/gene/482.shtml CleanEx HS_ATP1B2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ATP1B2 DOI 10.1016/0005-2736(94)90287-9 http://dx.doi.org/10.1016/0005-2736(94)90287-9 DOI 10.1016/0378-1119(96)00258-2 http://dx.doi.org/10.1016/0378-1119(96)00258-2 DOI 10.1016/S0378-1119(97)00661-6 http://dx.doi.org/10.1016/S0378-1119(97)00661-6 DOI 10.1021/bi900868e http://dx.doi.org/10.1021/bi900868e DOI 10.1021/pr8008012 http://dx.doi.org/10.1021/pr8008012 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AF007876 http://www.ebi.ac.uk/ena/data/view/AF007876 EMBL AK290143 http://www.ebi.ac.uk/ena/data/view/AK290143 EMBL BC126175 http://www.ebi.ac.uk/ena/data/view/BC126175 EMBL CH471108 http://www.ebi.ac.uk/ena/data/view/CH471108 EMBL M81181 http://www.ebi.ac.uk/ena/data/view/M81181 EMBL U45945 http://www.ebi.ac.uk/ena/data/view/U45945 Ensembl ENST00000250111 http://www.ensembl.org/id/ENST00000250111 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005890 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005890 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_function GO:0001671 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001671 GO_function GO:0005391 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005391 GO_function GO:0051117 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051117 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0006883 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006883 GO_process GO:0007155 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007155 GO_process GO:0010107 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010107 GO_process GO:0030007 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030007 GO_process GO:0032781 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032781 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0036376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0036376 GO_process GO:0050821 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050821 GO_process GO:0050900 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050900 GO_process GO:0086009 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086009 GO_process GO:0086064 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086064 GO_process GO:1901018 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1901018 GO_process GO:1903278 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903278 GO_process GO:1903288 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903288 GO_process GO:1903779 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903779 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0030234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030234 GOslim_process GO:0002376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002376 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007155 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007155 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0048870 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048870 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards ATP1B2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ATP1B2 GeneID 482 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=482 GeneTree ENSGT00550000074530 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074530 HGNC HGNC:805 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:805 HOGENOM HOG000039248 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000039248&db=HOGENOM6 HOVERGEN HBG050603 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050603&db=HOVERGEN HPA HPA010698 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA010698 InParanoid P14415 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P14415 IntAct P14415 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P14415* InterPro IPR000402 http://www.ebi.ac.uk/interpro/entry/IPR000402 Jabion 482 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=482 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04090 http://www.genome.jp/dbget-bin/www_bget?ko04090 KEGG_Gene hsa:482 http://www.genome.jp/dbget-bin/www_bget?hsa:482 KEGG_Orthology KO:K01540 http://www.genome.jp/dbget-bin/www_bget?KO:K01540 KEGG_Pathway ko04260 http://www.genome.jp/kegg-bin/show_pathway?ko04260 KEGG_Pathway ko04960 http://www.genome.jp/kegg-bin/show_pathway?ko04960 KEGG_Pathway ko04961 http://www.genome.jp/kegg-bin/show_pathway?ko04961 KEGG_Pathway ko04964 http://www.genome.jp/kegg-bin/show_pathway?ko04964 KEGG_Pathway ko04970 http://www.genome.jp/kegg-bin/show_pathway?ko04970 KEGG_Pathway ko04971 http://www.genome.jp/kegg-bin/show_pathway?ko04971 KEGG_Pathway ko04972 http://www.genome.jp/kegg-bin/show_pathway?ko04972 KEGG_Pathway ko04973 http://www.genome.jp/kegg-bin/show_pathway?ko04973 KEGG_Pathway ko04974 http://www.genome.jp/kegg-bin/show_pathway?ko04974 KEGG_Pathway ko04976 http://www.genome.jp/kegg-bin/show_pathway?ko04976 KEGG_Pathway ko04978 http://www.genome.jp/kegg-bin/show_pathway?ko04978 MIM 182331 http://www.ncbi.nlm.nih.gov/omim/182331 OMA TESWDLY http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=TESWDLY OrthoDB EOG091G0DJ4 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0DJ4 PANTHER PTHR11523 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11523 PROSITE PS00390 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00390 PROSITE PS00391 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00391 PSORT swissprot:AT1B2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:AT1B2_HUMAN PSORT-B swissprot:AT1B2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:AT1B2_HUMAN PSORT2 swissprot:AT1B2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:AT1B2_HUMAN Pfam PF00287 http://pfam.xfam.org/family/PF00287 PharmGKB PA67 http://www.pharmgkb.org/do/serve?objId=PA67&objCls=Gene Phobius swissprot:AT1B2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:AT1B2_HUMAN PhylomeDB P14415 http://phylomedb.org/?seqid=P14415 ProteinModelPortal P14415 http://www.proteinmodelportal.org/query/uniprot/P14415 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 19159218 http://www.ncbi.nlm.nih.gov/pubmed/19159218 PubMed 19694409 http://www.ncbi.nlm.nih.gov/pubmed/19694409 PubMed 2538450 http://www.ncbi.nlm.nih.gov/pubmed/2538450 PubMed 8305453 http://www.ncbi.nlm.nih.gov/pubmed/8305453 PubMed 8918259 http://www.ncbi.nlm.nih.gov/pubmed/8918259 PubMed 9524271 http://www.ncbi.nlm.nih.gov/pubmed/9524271 Reactome R-HSA-210991 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-210991 Reactome R-HSA-5578775 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5578775 Reactome R-HSA-936837 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-936837 RefSeq NP_001290192 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001290192 RefSeq NP_001669 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001669 STRING 9606.ENSP00000250111 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000250111&targetmode=cogs TIGRFAMs TIGR01107 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01107 UCSC uc002gif http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002gif&org=rat UniGene Hs.643540 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.643540 UniProtKB AT1B2_HUMAN http://www.uniprot.org/uniprot/AT1B2_HUMAN UniProtKB-AC P14415 http://www.uniprot.org/uniprot/P14415 charge swissprot:AT1B2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:AT1B2_HUMAN eggNOG ENOG411150A http://eggnogapi.embl.de/nog_data/html/tree/ENOG411150A eggNOG KOG3927 http://eggnogapi.embl.de/nog_data/html/tree/KOG3927 epestfind swissprot:AT1B2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:AT1B2_HUMAN garnier swissprot:AT1B2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:AT1B2_HUMAN helixturnhelix swissprot:AT1B2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:AT1B2_HUMAN hmoment swissprot:AT1B2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:AT1B2_HUMAN iep swissprot:AT1B2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:AT1B2_HUMAN inforesidue swissprot:AT1B2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:AT1B2_HUMAN neXtProt NX_P14415 http://www.nextprot.org/db/entry/NX_P14415 octanol swissprot:AT1B2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:AT1B2_HUMAN pepcoil swissprot:AT1B2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:AT1B2_HUMAN pepdigest swissprot:AT1B2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:AT1B2_HUMAN pepinfo swissprot:AT1B2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:AT1B2_HUMAN pepnet swissprot:AT1B2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:AT1B2_HUMAN pepstats swissprot:AT1B2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:AT1B2_HUMAN pepwheel swissprot:AT1B2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:AT1B2_HUMAN pepwindow swissprot:AT1B2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:AT1B2_HUMAN sigcleave swissprot:AT1B2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:AT1B2_HUMAN ## Database ID URL or Descriptions # AltName STEA1_HUMAN Six-transmembrane epithelial antigen of prostate 1 # COFACTOR Name=FAD; Xref=ChEBI:CHEBI 57692; Evidence={ECO:0000250}; # Ensembl ENST00000297205 ENSP00000297205; ENSG00000164647 # ExpressionAtlas Q9UHE8 baseline and differential # FUNCTION STEA1_HUMAN Metalloreductase that has the ability to reduce both Fe(3+) to Fe(2+) and Cu(2+) to Cu(1+). Uses NAD(+) as acceptor (By similarity). {ECO 0000250}. # GO_component GO:0005768 endosome; IBA:GO_Central. # GO_component GO:0005886 plasma membrane; TAS:ProtInc. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0005911 cell-cell junction; TAS:ProtInc. # GO_component GO:0010008 endosome membrane; IEA:UniProtKB-SubCell. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_function GO:0005215 transporter activity; TAS:ProtInc. # GO_function GO:0015267 channel activity; TAS:ProtInc. # GO_function GO:0016491 oxidoreductase activity; IEA:UniProtKB-KW. # GO_function GO:0046872 metal ion binding; IEA:UniProtKB-KW. # GO_process GO:0006811 ion transport; IEA:UniProtKB-KW. # GO_process GO:0055072 iron ion homeostasis; IEA:UniProtKB-KW. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005768 endosome # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0016491 oxidoreductase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0042592 homeostatic process # Genevisible Q9UHE8 HS # HGNC HGNC:11378 STEAP1 # InterPro IPR013130 Fe3_Rdtase_TM_dom # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko01000 Enzymes # KEGG_Pathway ko04978 Mineral absorption # MIM 604415 gene # Organism STEA1_HUMAN Homo sapiens (Human) # Pfam PF01794 Ferric_reduct # Proteomes UP000005640 Chromosome 7 # RecName STEA1_HUMAN Metalloreductase STEAP1 # RefSeq NP_036581 NM_012449.2 # SIMILARITY Belongs to the STEAP family. {ECO 0000305}. # SIMILARITY Contains 1 ferric oxidoreductase domain. {ECO 0000305}. # SUBCELLULAR LOCATION STEA1_HUMAN Endosome membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. # TCDB 5.B.6.1 the transmembrane epithelial antigen protien-3 ferric reductase (steap) family # TISSUE SPECIFICITY Ubiquitously expressed. Highly expressed in prostate tumors. {ECO:0000269|PubMed 16609065}. # UCSC uc003ujx human # WEB RESOURCE STEA1_HUMAN Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http //atlasgeneticsoncology.org/Genes/STEAP1ID44482ch7q21.html"; # eggNOG ENOG410IEI2 Eukaryota # eggNOG ENOG4111C63 LUCA BLAST swissprot:STEA1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:STEA1_HUMAN BioCyc ZFISH:ENSG00000164647-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000164647-MONOMER COXPRESdb 26872 http://coxpresdb.jp/data/gene/26872.shtml CleanEx HS_STEAP1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_STEAP1 DOI 10.1038/nature01782 http://dx.doi.org/10.1038/nature01782 DOI 10.1073/pnas.96.25.14523 http://dx.doi.org/10.1073/pnas.96.25.14523 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1083423 http://dx.doi.org/10.1126/science.1083423 DOI 10.1182/blood-2006-02-003681 http://dx.doi.org/10.1182/blood-2006-02-003681 EC_number EC:1.16.1.- http://www.genome.jp/dbget-bin/www_bget?EC:1.16.1.- EMBL AC004969 http://www.ebi.ac.uk/ena/data/view/AC004969 EMBL AC005053 http://www.ebi.ac.uk/ena/data/view/AC005053 EMBL AF186249 http://www.ebi.ac.uk/ena/data/view/AF186249 EMBL BC011802 http://www.ebi.ac.uk/ena/data/view/BC011802 EMBL CH236949 http://www.ebi.ac.uk/ena/data/view/CH236949 ENZYME 1.16.1.- http://enzyme.expasy.org/EC/1.16.1.- Ensembl ENST00000297205 http://www.ensembl.org/id/ENST00000297205 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0005911 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005911 GO_component GO:0010008 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010008 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_function GO:0005215 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005215 GO_function GO:0015267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015267 GO_function GO:0016491 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016491 GO_function GO:0046872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046872 GO_process GO:0006811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006811 GO_process GO:0055072 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055072 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0016491 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016491 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GeneCards STEAP1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=STEAP1 GeneID 26872 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=26872 GeneTree ENSGT00390000008042 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000008042 HGNC HGNC:11378 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11378 HOGENOM HOG000252937 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000252937&db=HOGENOM6 HOVERGEN HBG062286 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG062286&db=HOVERGEN HPA HPA030985 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA030985 InParanoid Q9UHE8 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9UHE8 IntAct Q9UHE8 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9UHE8* IntEnz 1.16.1 http://www.ebi.ac.uk/intenz/query?cmd=Search&q=1.16.1 InterPro IPR013130 http://www.ebi.ac.uk/interpro/entry/IPR013130 Jabion 26872 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=26872 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Gene hsa:26872 http://www.genome.jp/dbget-bin/www_bget?hsa:26872 KEGG_Orthology KO:K14737 http://www.genome.jp/dbget-bin/www_bget?KO:K14737 KEGG_Pathway ko04978 http://www.genome.jp/kegg-bin/show_pathway?ko04978 MIM 604415 http://www.ncbi.nlm.nih.gov/omim/604415 OMA HGWEDVT http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=HGWEDVT OrthoDB EOG091G0F9X http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0F9X PSORT swissprot:STEA1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:STEA1_HUMAN PSORT-B swissprot:STEA1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:STEA1_HUMAN PSORT2 swissprot:STEA1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:STEA1_HUMAN Pfam PF01794 http://pfam.xfam.org/family/PF01794 PharmGKB PA36193 http://www.pharmgkb.org/do/serve?objId=PA36193&objCls=Gene Phobius swissprot:STEA1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:STEA1_HUMAN PhylomeDB Q9UHE8 http://phylomedb.org/?seqid=Q9UHE8 ProteinModelPortal Q9UHE8 http://www.proteinmodelportal.org/query/uniprot/Q9UHE8 PubMed 10588738 http://www.ncbi.nlm.nih.gov/pubmed/10588738 PubMed 12690205 http://www.ncbi.nlm.nih.gov/pubmed/12690205 PubMed 12853948 http://www.ncbi.nlm.nih.gov/pubmed/12853948 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16609065 http://www.ncbi.nlm.nih.gov/pubmed/16609065 RefSeq NP_036581 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_036581 STRING 9606.ENSP00000297205 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000297205&targetmode=cogs TCDB 5.B.6.1 http://www.tcdb.org/search/result.php?tc=5.B.6.1 UCSC uc003ujx http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003ujx&org=rat UniGene Hs.61635 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.61635 UniProtKB STEA1_HUMAN http://www.uniprot.org/uniprot/STEA1_HUMAN UniProtKB-AC Q9UHE8 http://www.uniprot.org/uniprot/Q9UHE8 charge swissprot:STEA1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:STEA1_HUMAN eggNOG ENOG410IEI2 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IEI2 eggNOG ENOG4111C63 http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111C63 epestfind swissprot:STEA1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:STEA1_HUMAN garnier swissprot:STEA1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:STEA1_HUMAN helixturnhelix swissprot:STEA1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:STEA1_HUMAN hmoment swissprot:STEA1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:STEA1_HUMAN iep swissprot:STEA1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:STEA1_HUMAN inforesidue swissprot:STEA1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:STEA1_HUMAN neXtProt NX_Q9UHE8 http://www.nextprot.org/db/entry/NX_Q9UHE8 octanol swissprot:STEA1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:STEA1_HUMAN pepcoil swissprot:STEA1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:STEA1_HUMAN pepdigest swissprot:STEA1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:STEA1_HUMAN pepinfo swissprot:STEA1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:STEA1_HUMAN pepnet swissprot:STEA1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:STEA1_HUMAN pepstats swissprot:STEA1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:STEA1_HUMAN pepwheel swissprot:STEA1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:STEA1_HUMAN pepwindow swissprot:STEA1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:STEA1_HUMAN sigcleave swissprot:STEA1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:STEA1_HUMAN ## Database ID URL or Descriptions # AltName S45A1_HUMAN Deleted in neuroblastoma 5 protein # AltName S45A1_HUMAN Solute carrier family 45 member 1 # ChiTaRS SLC45A1 human # Ensembl ENST00000289877 ENSP00000289877; ENSG00000162426 # ExpressionAtlas Q9Y2W3 baseline and differential # FUNCTION S45A1_HUMAN Mediates glucose uptake along the pH gradient. {ECO 0000250}. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0015293 symporter activity; IEA:UniProtKB-KW. # GO_process GO:0008643 carbohydrate transport; IEA:UniProtKB-KW. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # Genevisible Q9Y2W3 HS # HGNC HGNC:17939 SLC45A1 # InterPro IPR011701 MFS # InterPro IPR020846 MFS_dom # MIM 605763 gene # Organism S45A1_HUMAN Homo sapiens (Human) # Pfam PF07690 MFS_1 # Proteomes UP000005640 Chromosome 1 # RecName S45A1_HUMAN Proton-associated sugar transporter A # SEQUENCE CAUTION Sequence=AAD27583.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305}; Sequence=CAH70515.2; Type=Erroneous gene model prediction; Evidence={ECO 0000305}; # SIMILARITY Belongs to the glycoside-pentoside-hexuronide (GPH) cation symporter transporter (TC 2.A.2) family. {ECO 0000305}. # SUBCELLULAR LOCATION S45A1_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # SUPFAM SSF103473 SSF103473; 2 # TCDB 2.A.2.4.10:the glycoside-pentoside-hexuronide (gph) cation symporter family # TISSUE SPECIFICITY S45A1_HUMAN Expressed in adult heart, brain, muscle and kidney, with very strong expression in brain. Also expressed in fetal brain, kidney and lung. # UCSC uc001apb human # eggNOG ENOG410Y28T LUCA # eggNOG KOG0637 Eukaryota BLAST swissprot:S45A1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S45A1_HUMAN BioCyc ZFISH:ENSG00000162426-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000162426-MONOMER CleanEx HS_SLC45A1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC45A1 DOI 10.1006/geno.1999.6097 http://dx.doi.org/10.1006/geno.1999.6097 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 EMBL AF118274 http://www.ebi.ac.uk/ena/data/view/AF118274 EMBL AL356072 http://www.ebi.ac.uk/ena/data/view/AL356072 Ensembl ENST00000289877 http://www.ensembl.org/id/ENST00000289877 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0015293 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015293 GO_process GO:0008643 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008643 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GeneCards SLC45A1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC45A1 GeneTree ENSGT00390000018882 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000018882 H-InvDB HIX0028554 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0028554 HGNC HGNC:17939 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:17939 HOGENOM HOG000231090 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231090&db=HOGENOM6 HOVERGEN HBG053518 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG053518&db=HOVERGEN HPA HPA053528 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA053528 HPA HPA057766 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA057766 InParanoid Q9Y2W3 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9Y2W3 IntAct Q9Y2W3 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9Y2W3* InterPro IPR011701 http://www.ebi.ac.uk/interpro/entry/IPR011701 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 MIM 605763 http://www.ncbi.nlm.nih.gov/omim/605763 PSORT swissprot:S45A1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S45A1_HUMAN PSORT-B swissprot:S45A1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S45A1_HUMAN PSORT2 swissprot:S45A1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S45A1_HUMAN Pfam PF07690 http://pfam.xfam.org/family/PF07690 Phobius swissprot:S45A1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S45A1_HUMAN PhylomeDB Q9Y2W3 http://phylomedb.org/?seqid=Q9Y2W3 ProteinModelPortal Q9Y2W3 http://www.proteinmodelportal.org/query/uniprot/Q9Y2W3 PubMed 10729226 http://www.ncbi.nlm.nih.gov/pubmed/10729226 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 STRING 9606.ENSP00000289877 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000289877&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.2.4.10 http://www.tcdb.org/search/result.php?tc=2.A.2.4.10 UCSC uc001apb http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001apb&org=rat UniGene Hs.463036 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.463036 UniProtKB S45A1_HUMAN http://www.uniprot.org/uniprot/S45A1_HUMAN UniProtKB-AC Q9Y2W3 http://www.uniprot.org/uniprot/Q9Y2W3 charge swissprot:S45A1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S45A1_HUMAN eggNOG ENOG410Y28T http://eggnogapi.embl.de/nog_data/html/tree/ENOG410Y28T eggNOG KOG0637 http://eggnogapi.embl.de/nog_data/html/tree/KOG0637 epestfind swissprot:S45A1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S45A1_HUMAN garnier swissprot:S45A1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S45A1_HUMAN helixturnhelix swissprot:S45A1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S45A1_HUMAN hmoment swissprot:S45A1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S45A1_HUMAN iep swissprot:S45A1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S45A1_HUMAN inforesidue swissprot:S45A1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S45A1_HUMAN neXtProt NX_Q9Y2W3 http://www.nextprot.org/db/entry/NX_Q9Y2W3 octanol swissprot:S45A1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S45A1_HUMAN pepcoil swissprot:S45A1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S45A1_HUMAN pepdigest swissprot:S45A1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S45A1_HUMAN pepinfo swissprot:S45A1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S45A1_HUMAN pepnet swissprot:S45A1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S45A1_HUMAN pepstats swissprot:S45A1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S45A1_HUMAN pepwheel swissprot:S45A1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S45A1_HUMAN pepwindow swissprot:S45A1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S45A1_HUMAN sigcleave swissprot:S45A1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S45A1_HUMAN ## Database ID URL or Descriptions # AltName CNGA2_HUMAN Cyclic nucleotide-gated cation channel 2 # AltName CNGA2_HUMAN Cyclic nucleotide-gated channel alpha-2 # DOMAIN CNGA2_HUMAN The C-terminal coiled-coil domain mediates trimerization of CNGA subunits. {ECO 0000250}. # Ensembl ENST00000329903 ENSP00000328478; ENSG00000183862 # FUNCTION CNGA2_HUMAN Odorant signal transduction is probably mediated by a G- protein coupled cascade using cAMP as second messenger. The olfactory channel can be shown to be activated by cyclic nucleotides which leads to a depolarization of olfactory sensory neurons. # GO_component GO:0000139 Golgi membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0030660 Golgi-associated vesicle membrane; TAS:Reactome. # GO_component GO:0060170 ciliary membrane; TAS:Reactome. # GO_function GO:0005222 intracellular cAMP activated cation channel activity; IBA:GO_Central. # GO_function GO:0005223 intracellular cGMP activated cation channel activity; IBA:GO_Central. # GO_function GO:0005249 voltage-gated potassium channel activity; IBA:GO_Central. # GO_function GO:0030552 cAMP binding; IEA:UniProtKB-KW. # GO_function GO:0030553 cGMP binding; IBA:GO_Central. # GO_process GO:0007608 sensory perception of smell; IEA:UniProtKB-KW. # GO_process GO:0042391 regulation of membrane potential; IBA:GO_Central. # GO_process GO:0050896 response to stimulus; IEA:UniProtKB-KW. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0008150 biological_process # GOslim_process GO:0050877 neurological system process # Gene3D 2.60.120.10 -; 1. # HGNC HGNC:2149 CNGA2 # InterPro IPR000595 cNMP-bd_dom # InterPro IPR005821 Ion_trans_dom # InterPro IPR014710 RmlC-like_jellyroll # InterPro IPR018488 cNMP-bd_CS # InterPro IPR018490 cNMP-bd-like # InterPro IPR032406 CLZ_dom # KEGG_Brite ko04040 Ion channels # MIM 300338 gene # Organism CNGA2_HUMAN Homo sapiens (Human) # PIR I78559 I78559 # PROSITE PS00888 CNMP_BINDING_1 # PROSITE PS00889 CNMP_BINDING_2 # PROSITE PS50042 CNMP_BINDING_3 # Pfam PF00027 cNMP_binding # Pfam PF00520 Ion_trans # Pfam PF16526 CLZ # Proteomes UP000005640 Chromosome X # Reactome R-HSA-5620916 VxPx cargo-targeting to cilium # RecName CNGA2_HUMAN Cyclic nucleotide-gated olfactory channel # RefSeq NP_005131 NM_005140.1 # SIMILARITY Belongs to the cyclic nucleotide-gated cation channel (TC 1.A.1.5) family. CNGA2 subfamily. {ECO 0000305}. # SIMILARITY Contains 1 cyclic nucleotide-binding domain. {ECO:0000255|PROSITE-ProRule PRU00060}. # SMART SM00100 cNMP # SUBCELLULAR LOCATION CNGA2_HUMAN Membrane; Multi-pass membrane protein. # SUBUNIT Heterotetramer composed of two subunits of CNGA2, one of CNGA4 and one of CNGB1b. The complex forms the cyclic nucleotide- gated (CNG) channel of olfactory sensory neurons (By similarity). {ECO 0000250}. # SUPFAM SSF51206 SSF51206 # UCSC uc065bqd human # eggNOG ENOG410YWWI LUCA # eggNOG KOG0500 Eukaryota BLAST swissprot:CNGA2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CNGA2_HUMAN COXPRESdb 1260 http://coxpresdb.jp/data/gene/1260.shtml CleanEx HS_CNGA2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CNGA2 DOI 10.1016/0028-3908(94)90027-2 http://dx.doi.org/10.1016/0028-3908(94)90027-2 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1133427 http://dx.doi.org/10.1126/science.1133427 EMBL BC126302 http://www.ebi.ac.uk/ena/data/view/BC126302 EMBL BC126304 http://www.ebi.ac.uk/ena/data/view/BC126304 EMBL S76067 http://www.ebi.ac.uk/ena/data/view/S76067 Ensembl ENST00000329903 http://www.ensembl.org/id/ENST00000329903 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000139 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0030660 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030660 GO_component GO:0060170 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060170 GO_function GO:0005222 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005222 GO_function GO:0005223 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005223 GO_function GO:0005249 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005249 GO_function GO:0030552 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030552 GO_function GO:0030553 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030553 GO_process GO:0007608 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007608 GO_process GO:0042391 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042391 GO_process GO:0050896 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050896 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 Gene3D 2.60.120.10 http://www.cathdb.info/version/latest/superfamily/2.60.120.10 GeneCards CNGA2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CNGA2 GeneID 1260 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=1260 GeneTree ENSGT00760000118772 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118772 HGNC HGNC:2149 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:2149 HOGENOM HOG000007898 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000007898&db=HOGENOM6 HOVERGEN HBG000281 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG000281&db=HOVERGEN HPA HPA015065 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA015065 InParanoid Q16280 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q16280 InterPro IPR000595 http://www.ebi.ac.uk/interpro/entry/IPR000595 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR014710 http://www.ebi.ac.uk/interpro/entry/IPR014710 InterPro IPR018488 http://www.ebi.ac.uk/interpro/entry/IPR018488 InterPro IPR018490 http://www.ebi.ac.uk/interpro/entry/IPR018490 InterPro IPR032406 http://www.ebi.ac.uk/interpro/entry/IPR032406 Jabion 1260 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=1260 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:1260 http://www.genome.jp/dbget-bin/www_bget?hsa:1260 KEGG_Orthology KO:K04949 http://www.genome.jp/dbget-bin/www_bget?KO:K04949 MIM 300338 http://www.ncbi.nlm.nih.gov/omim/300338 OMA TREYVYC http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=TREYVYC OrthoDB EOG091G03EW http://cegg.unige.ch/orthodb/results?searchtext=EOG091G03EW PROSITE PS00888 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00888 PROSITE PS00889 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00889 PROSITE PS50042 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50042 PSORT swissprot:CNGA2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CNGA2_HUMAN PSORT-B swissprot:CNGA2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CNGA2_HUMAN PSORT2 swissprot:CNGA2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CNGA2_HUMAN Pfam PF00027 http://pfam.xfam.org/family/PF00027 Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF16526 http://pfam.xfam.org/family/PF16526 PharmGKB PA26659 http://www.pharmgkb.org/do/serve?objId=PA26659&objCls=Gene Phobius swissprot:CNGA2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CNGA2_HUMAN PhylomeDB Q16280 http://phylomedb.org/?seqid=Q16280 ProteinModelPortal Q16280 http://www.proteinmodelportal.org/query/uniprot/Q16280 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16959974 http://www.ncbi.nlm.nih.gov/pubmed/16959974 PubMed 7532814 http://www.ncbi.nlm.nih.gov/pubmed/7532814 Reactome R-HSA-5620916 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5620916 RefSeq NP_005131 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_005131 SMART SM00100 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00100 SMR Q16280 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q16280 STRING 9606.ENSP00000328478 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000328478&targetmode=cogs SUPFAM SSF51206 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF51206 UCSC uc065bqd http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc065bqd&org=rat UniGene Hs.447360 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.447360 UniProtKB CNGA2_HUMAN http://www.uniprot.org/uniprot/CNGA2_HUMAN UniProtKB-AC Q16280 http://www.uniprot.org/uniprot/Q16280 charge swissprot:CNGA2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CNGA2_HUMAN eggNOG ENOG410YWWI http://eggnogapi.embl.de/nog_data/html/tree/ENOG410YWWI eggNOG KOG0500 http://eggnogapi.embl.de/nog_data/html/tree/KOG0500 epestfind swissprot:CNGA2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CNGA2_HUMAN garnier swissprot:CNGA2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CNGA2_HUMAN helixturnhelix swissprot:CNGA2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CNGA2_HUMAN hmoment swissprot:CNGA2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CNGA2_HUMAN iep swissprot:CNGA2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CNGA2_HUMAN inforesidue swissprot:CNGA2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CNGA2_HUMAN neXtProt NX_Q16280 http://www.nextprot.org/db/entry/NX_Q16280 octanol swissprot:CNGA2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CNGA2_HUMAN pepcoil swissprot:CNGA2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CNGA2_HUMAN pepdigest swissprot:CNGA2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CNGA2_HUMAN pepinfo swissprot:CNGA2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CNGA2_HUMAN pepnet swissprot:CNGA2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CNGA2_HUMAN pepstats swissprot:CNGA2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CNGA2_HUMAN pepwheel swissprot:CNGA2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CNGA2_HUMAN pepwindow swissprot:CNGA2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CNGA2_HUMAN sigcleave swissprot:CNGA2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CNGA2_HUMAN ## Database ID URL or Descriptions # AltName CXA8_HUMAN Connexin-50 # AltName CXA8_HUMAN Lens fiber protein MP70 # DISEASE CXA8_HUMAN Cataract 1, multiple types (CTRCT1) [MIM 116200] An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT1 includes congenital, zonular pulverulent, nuclear progressive, nuclear pulverulent, nuclear total, total, and posterior subcapsular types of cataract. Zonular or lamellar cataracts are opacities, broad or narrow, usually consisting of powdery white dots affecting only certain layers or zones between the cortex and nucleus of an otherwise clear lens. The opacity may be so dense as to render the entire central region of the lens completely opaque, or so translucent that vision is hardly if at all impeded. Zonular cataracts generally do not involve the embryonic nucleus, though sometimes they involve the fetal nucleus. Usually sharply separated from a clear cortex outside them, they may have projections from their outer edges known as riders or spokes. In some cases cataract is associated with microcornea without any other systemic anomaly or dysmorphism. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye. {ECO 0000269|PubMed 10480374, ECO 0000269|PubMed 11846744, ECO 0000269|PubMed 14627691, ECO 0000269|PubMed 16234473, ECO 0000269|PubMed 16604058, ECO 0000269|PubMed 18006672, ECO 0000269|PubMed 21174522, ECO 0000269|PubMed 21921990, ECO 0000269|PubMed 23508780, ECO 0000269|PubMed 9497259, ECO 0000269|Ref.4}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000369235 ENSP00000358238; ENSG00000121634 # ExpressionAtlas P48165 baseline and differential # FUNCTION CXA8_HUMAN One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0005922 connexin complex; TAS:ProtInc. # GO_function GO:0005243 gap junction channel activity; IEA:Ensembl. # GO_function GO:0015267 channel activity; TAS:ProtInc. # GO_process GO:0002088 lens development in camera-type eye; IEA:Ensembl. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0007267 cell-cell signaling; IEA:Ensembl. # GO_process GO:0007601 visual perception; TAS:ProtInc. # GO_process GO:0051260 protein homooligomerization; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0043234 protein complex # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0050877 neurological system process # Genevisible P48165 HS # HGNC HGNC:4281 GJA8 # InterPro IPR000500 Connexin # InterPro IPR002266 Connexin50 # InterPro IPR013092 Connexin_N # InterPro IPR017990 Connexin_CS # InterPro IPR019570 Connexin_CCC # KEGG_Disease H01202 [Eye disease] Cataract # MIM 116200 phenotype # MIM 600897 gene # Organism CXA8_HUMAN Homo sapiens (Human) # Orphanet 1377 Cataract-microcornea syndrome # Orphanet 98984 Pulverulent cataract # PANTHER PTHR11984 PTHR11984; 2 # PANTHER PTHR11984:SF19 PTHR11984:SF19; 2 # PIR I39176 I39176 # PRINTS PR00206 CONNEXIN # PRINTS PR01137 CONNEXINA8 # PROSITE PS00407 CONNEXINS_1 # PROSITE PS00408 CONNEXINS_2 # Pfam PF00029 Connexin # Pfam PF03509 Connexin50 # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-190861 Gap junction assembly # RecName CXA8_HUMAN Gap junction alpha-8 protein # RefSeq NP_005258 NM_005267.4 # RefSeq XP_011507718 XM_011509416.1 # SIMILARITY Belongs to the connexin family. Alpha-type (group II) subfamily. {ECO 0000305}. # SMART SM00037 CNX # SMART SM01089 Connexin_CCC # SUBCELLULAR LOCATION CXA8_HUMAN Cell membrane; Multi-pass membrane protein. Cell junction, gap junction. # SUBUNIT CXA8_HUMAN A connexon is composed of a hexamer of connexins. This particular connexin only forms junctional channels. # TCDB 1.A.24.1 the gap junction-forming connexin (connexin) family # TISSUE SPECIFICITY CXA8_HUMAN Eye lens. # WEB RESOURCE CXA8_HUMAN Name=Eye disease Gap junction protein, alpha 8 (GJA8); Note=Leiden Open Variation Database (LOVD); URL="http //www.lovd.nl/GJA8"; # eggNOG ENOG410IF3Z Eukaryota # eggNOG ENOG410ZC96 LUCA BLAST swissprot:CXA8_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CXA8_HUMAN BioCyc ZFISH:ENSG00000121634-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000121634-MONOMER COXPRESdb 2703 http://coxpresdb.jp/data/gene/2703.shtml CleanEx HS_GJA8 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_GJA8 DOI 10.1007/s00439-013-1289-0 http://dx.doi.org/10.1007/s00439-013-1289-0 DOI 10.1007/s004399900094 http://dx.doi.org/10.1007/s004399900094 DOI 10.1034/j.1399-0004.2001.600614.x http://dx.doi.org/10.1034/j.1399-0004.2001.600614.x DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1086/301762 http://dx.doi.org/10.1086/301762 DOI 10.1136/bjo.2005.075184 http://dx.doi.org/10.1136/bjo.2005.075184 DOI 10.1136/jmg.2007.051029 http://dx.doi.org/10.1136/jmg.2007.051029 DOI 10.1136/jmg.40.11.e124 http://dx.doi.org/10.1136/jmg.40.11.e124 DOI 10.3109/13816810.2010.535886 http://dx.doi.org/10.3109/13816810.2010.535886 EMBL AF217524 http://www.ebi.ac.uk/ena/data/view/AF217524 EMBL AL445591 http://www.ebi.ac.uk/ena/data/view/AL445591 EMBL EF672108 http://www.ebi.ac.uk/ena/data/view/EF672108 EMBL U34802 http://www.ebi.ac.uk/ena/data/view/U34802 Ensembl ENST00000369235 http://www.ensembl.org/id/ENST00000369235 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0005922 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005922 GO_function GO:0005243 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005243 GO_function GO:0015267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015267 GO_process GO:0002088 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002088 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GO_process GO:0007601 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007601 GO_process GO:0051260 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051260 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GeneCards GJA8 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=GJA8 GeneID 2703 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=2703 GeneTree ENSGT00840000129674 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00840000129674 HGNC HGNC:4281 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:4281 HOGENOM HOG000231127 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231127&db=HOGENOM6 HOVERGEN HBG009576 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG009576&db=HOVERGEN InParanoid P48165 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P48165 InterPro IPR000500 http://www.ebi.ac.uk/interpro/entry/IPR000500 InterPro IPR002266 http://www.ebi.ac.uk/interpro/entry/IPR002266 InterPro IPR013092 http://www.ebi.ac.uk/interpro/entry/IPR013092 InterPro IPR017990 http://www.ebi.ac.uk/interpro/entry/IPR017990 InterPro IPR019570 http://www.ebi.ac.uk/interpro/entry/IPR019570 Jabion 2703 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=2703 KEGG_Disease H01202 http://www.genome.jp/dbget-bin/www_bget?H01202 KEGG_Gene hsa:2703 http://www.genome.jp/dbget-bin/www_bget?hsa:2703 KEGG_Orthology KO:K07617 http://www.genome.jp/dbget-bin/www_bget?KO:K07617 MIM 116200 http://www.ncbi.nlm.nih.gov/omim/116200 MIM 600897 http://www.ncbi.nlm.nih.gov/omim/600897 OMA MYVGHAV http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=MYVGHAV Orphanet 1377 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1377 Orphanet 98984 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=98984 OrthoDB EOG091G0FKH http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0FKH PANTHER PTHR11984 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11984 PANTHER PTHR11984:SF19 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11984:SF19 PRINTS PR00206 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00206 PRINTS PR01137 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01137 PROSITE PS00407 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00407 PROSITE PS00408 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00408 PSORT swissprot:CXA8_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CXA8_HUMAN PSORT-B swissprot:CXA8_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CXA8_HUMAN PSORT2 swissprot:CXA8_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CXA8_HUMAN Pfam PF00029 http://pfam.xfam.org/family/PF00029 Pfam PF03509 http://pfam.xfam.org/family/PF03509 PharmGKB PA28692 http://www.pharmgkb.org/do/serve?objId=PA28692&objCls=Gene Phobius swissprot:CXA8_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CXA8_HUMAN PhylomeDB P48165 http://phylomedb.org/?seqid=P48165 ProteinModelPortal P48165 http://www.proteinmodelportal.org/query/uniprot/P48165 PubMed 10480374 http://www.ncbi.nlm.nih.gov/pubmed/10480374 PubMed 11846744 http://www.ncbi.nlm.nih.gov/pubmed/11846744 PubMed 14627691 http://www.ncbi.nlm.nih.gov/pubmed/14627691 PubMed 16234473 http://www.ncbi.nlm.nih.gov/pubmed/16234473 PubMed 16604058 http://www.ncbi.nlm.nih.gov/pubmed/16604058 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 18006672 http://www.ncbi.nlm.nih.gov/pubmed/18006672 PubMed 19756179 http://www.ncbi.nlm.nih.gov/pubmed/19756179 PubMed 21174522 http://www.ncbi.nlm.nih.gov/pubmed/21174522 PubMed 21921990 http://www.ncbi.nlm.nih.gov/pubmed/21921990 PubMed 23508780 http://www.ncbi.nlm.nih.gov/pubmed/23508780 PubMed 7796604 http://www.ncbi.nlm.nih.gov/pubmed/7796604 PubMed 8549164 http://www.ncbi.nlm.nih.gov/pubmed/8549164 PubMed 9497259 http://www.ncbi.nlm.nih.gov/pubmed/9497259 Reactome R-HSA-190861 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-190861 RefSeq NP_005258 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_005258 RefSeq XP_011507718 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011507718 SMART SM00037 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00037 SMART SM01089 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM01089 STRING 9606.ENSP00000240986 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000240986&targetmode=cogs TCDB 1.A.24.1 http://www.tcdb.org/search/result.php?tc=1.A.24.1 UniGene Hs.632441 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.632441 UniProtKB CXA8_HUMAN http://www.uniprot.org/uniprot/CXA8_HUMAN UniProtKB-AC P48165 http://www.uniprot.org/uniprot/P48165 charge swissprot:CXA8_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CXA8_HUMAN eggNOG ENOG410IF3Z http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IF3Z eggNOG ENOG410ZC96 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410ZC96 epestfind swissprot:CXA8_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CXA8_HUMAN garnier swissprot:CXA8_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CXA8_HUMAN helixturnhelix swissprot:CXA8_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CXA8_HUMAN hmoment swissprot:CXA8_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CXA8_HUMAN iep swissprot:CXA8_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CXA8_HUMAN inforesidue swissprot:CXA8_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CXA8_HUMAN neXtProt NX_P48165 http://www.nextprot.org/db/entry/NX_P48165 octanol swissprot:CXA8_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CXA8_HUMAN pepcoil swissprot:CXA8_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CXA8_HUMAN pepdigest swissprot:CXA8_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CXA8_HUMAN pepinfo swissprot:CXA8_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CXA8_HUMAN pepnet swissprot:CXA8_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CXA8_HUMAN pepstats swissprot:CXA8_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CXA8_HUMAN pepwheel swissprot:CXA8_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CXA8_HUMAN pepwindow swissprot:CXA8_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CXA8_HUMAN sigcleave swissprot:CXA8_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CXA8_HUMAN ## Database ID URL or Descriptions # AltName IPO7_HUMAN Ran-binding protein 7 # BioGrid 115782 94 # ChiTaRS IPO7 human # Ensembl ENST00000379719 ENSP00000369042; ENSG00000205339 # ExpressionAtlas O95373 baseline and differential # FUNCTION IPO7_HUMAN Functions in nuclear protein import, either by acting as autonomous nuclear transport receptor or as an adapter-like protein in association with the importin-beta subunit KPNB1. Acting autonomously, is thought to serve itself as receptor for nuclear localization signals (NLS) and to promote translocation of import substrates through the nuclear pore complex (NPC) by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to importin, the importin/substrate complex dissociates and importin is re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. Mediates autonomously the nuclear import of ribosomal proteins RPL23A, RPS7 and RPL5. Binds to a beta-like import receptor binding (BIB) domain of RPL23A. In association with KPNB1 mediates the nuclear import of H1 histone and the Ran-binding site of IPO7 is not required but synergizes with that of KPNB1 in importin/substrate complex dissociation. In vitro, mediates nuclear import of H2A, H2B, H3 and H4 histones. In vitro, mediates the nuclear import of HIV-1 reverse transcription complex (RTC) integrase. In case of HIV-1 infection, binds and mediates the nuclear import of HIV-1 Rev. {ECO 0000269|PubMed 10228156, ECO 0000269|PubMed 12853482, ECO 0000269|PubMed 9687515}. # GO_component GO:0005643 nuclear pore; TAS:ProtInc. # GO_component GO:0005654 nucleoplasm; IDA:HPA. # GO_component GO:0005737 cytoplasm; IDA:HPA. # GO_component GO:0005829 cytosol; IBA:GO_Central. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_function GO:0005215 transporter activity; TAS:ProtInc. # GO_function GO:0008536 Ran GTPase binding; TAS:ProtInc. # GO_function GO:0008565 protein transporter activity; IBA:GO_Central. # GO_function GO:0030695 GTPase regulator activity; TAS:ProtInc. # GO_function GO:0046332 SMAD binding; IPI:UniProtKB. # GO_process GO:0006606 protein import into nucleus; IBA:GO_Central. # GO_process GO:0007165 signal transduction; TAS:ProtInc. # GO_process GO:0016032 viral process; IEA:UniProtKB-KW. # GO_process GO:0045087 innate immune response; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005654 nucleoplasm # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005829 cytosol # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0008565 protein transporter activity # GOslim_function GO:0019899 enzyme binding # GOslim_function GO:0030234 enzyme regulator activity # GOslim_process GO:0002376 immune system process # GOslim_process GO:0006913 nucleocytoplasmic transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0044403 symbiosis, encompassing mutualism through parasitism # Gene3D 1.25.10.10 -; 2. # Genevisible O95373 HS # HGNC HGNC:9852 IPO7 # IntAct O95373 40 # InterPro IPR001494 Importin-beta_N # InterPro IPR011989 ARM-like # InterPro IPR013713 Cse1 # InterPro IPR016024 ARM-type_fold # MIM 605586 gene # Organism IPO7_HUMAN Homo sapiens (Human) # PIR T46501 T46501 # PROSITE PS50166 IMPORTIN_B_NT # Pfam PF03810 IBN_N # Pfam PF08506 Cse1 # Proteomes UP000005640 Chromosome 11 # RecName IPO7_HUMAN Importin-7 # RefSeq NP_006382 NM_006391.2 # SIMILARITY Belongs to the importin beta family. {ECO 0000305}. # SIMILARITY Contains 1 importin N-terminal domain. {ECO:0000255|PROSITE-ProRule PRU00115}. # SMART SM00913 IBN_N # SUBCELLULAR LOCATION IPO7_HUMAN Cytoplasm. Nucleus. # SUBUNIT IPO7_HUMAN Interacts with H2A, H2B, H3 and H4 histones (By similarity). Forms a heterodimer with KPNB1. Interacts with KPNB1, SNUPN, XPO1, RPL23A, RPS7, RPL5 and HIV-1 reverse transcription complex integrase. Binds directly to nuclear pore complexes (By similarity). Interacts with H2A, H2B, H3 and H4 histones. Binds to HIV-1 Rev. Interacts with SMAD4 and NUP93; translocates SMAD4 to the nucleus through the NPC upon BMP7 stimulation resulting in activation of SMAD4 signaling (PubMed 26878725). {ECO 0000250, ECO 0000269|PubMed 10209022, ECO 0000269|PubMed 10228156, ECO 0000269|PubMed 12853482, ECO 0000269|PubMed 16704975, ECO 0000269|PubMed 26878725, ECO 0000269|PubMed 9687515}. # SUPFAM SSF48371 SSF48371; 2 # TCDB 1.I.1.1 the nuclear pore complex (npc) family # UCSC uc001mho human # eggNOG COG5656 LUCA # eggNOG KOG1991 Eukaryota BLAST swissprot:IPO7_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:IPO7_HUMAN BioCyc ZFISH:ENSG00000166472-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000166472-MONOMER COXPRESdb 10527 http://coxpresdb.jp/data/gene/10527.shtml CleanEx HS_IPO7 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_IPO7 DIP DIP-32574N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-32574N DOI 10.1016/j.cell.2006.09.026 http://dx.doi.org/10.1016/j.cell.2006.09.026 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/ac9004309 http://dx.doi.org/10.1021/ac9004309 DOI 10.1038/nature04632 http://dx.doi.org/10.1038/nature04632 DOI 10.1038/nbt810 http://dx.doi.org/10.1038/nbt810 DOI 10.1038/ng.3512 http://dx.doi.org/10.1038/ng.3512 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1073/pnas.1210303109 http://dx.doi.org/10.1073/pnas.1210303109 DOI 10.1074/jbc.M602189200 http://dx.doi.org/10.1074/jbc.M602189200 DOI 10.1074/mcp.M111.015131 http://dx.doi.org/10.1074/mcp.M111.015131 DOI 10.1083/jcb.138.1.65 http://dx.doi.org/10.1083/jcb.138.1.65 DOI 10.1083/jcb.145.2.255 http://dx.doi.org/10.1083/jcb.145.2.255 DOI 10.1093/emboj/17.15.4491 http://dx.doi.org/10.1093/emboj/17.15.4491 DOI 10.1093/emboj/18.9.2411 http://dx.doi.org/10.1093/emboj/18.9.2411 DOI 10.1093/emboj/cdg357 http://dx.doi.org/10.1093/emboj/cdg357 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AC055845 http://www.ebi.ac.uk/ena/data/view/AC055845 EMBL AF098799 http://www.ebi.ac.uk/ena/data/view/AF098799 EMBL AJ295844 http://www.ebi.ac.uk/ena/data/view/AJ295844 EMBL AK312885 http://www.ebi.ac.uk/ena/data/view/AK312885 EMBL AL137335 http://www.ebi.ac.uk/ena/data/view/AL137335 EMBL BC114929 http://www.ebi.ac.uk/ena/data/view/BC114929 EMBL CH471064 http://www.ebi.ac.uk/ena/data/view/CH471064 Ensembl ENST00000379719 http://www.ensembl.org/id/ENST00000379719 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005643 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005643 GO_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_function GO:0005215 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005215 GO_function GO:0008536 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008536 GO_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GO_function GO:0030695 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030695 GO_function GO:0046332 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046332 GO_process GO:0006606 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006606 GO_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GO_process GO:0016032 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016032 GO_process GO:0045087 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045087 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_function GO:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GOslim_function GO:0030234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030234 GOslim_process GO:0002376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002376 GOslim_process GO:0006913 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006913 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0044403 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044403 Gene3D 1.25.10.10 http://www.cathdb.info/version/latest/superfamily/1.25.10.10 GeneCards IPO7 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=IPO7 GeneID 10527 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=10527 GeneTree ENSGT00550000074736 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074736 HGNC HGNC:9852 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:9852 HOGENOM HOG000006586 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000006586&db=HOGENOM6 HOVERGEN HBG006824 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG006824&db=HOVERGEN HPA HPA019002 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA019002 HPA HPA056590 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA056590 InParanoid O95373 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O95373 IntAct O95373 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O95373* InterPro IPR001494 http://www.ebi.ac.uk/interpro/entry/IPR001494 InterPro IPR011989 http://www.ebi.ac.uk/interpro/entry/IPR011989 InterPro IPR013713 http://www.ebi.ac.uk/interpro/entry/IPR013713 InterPro IPR016024 http://www.ebi.ac.uk/interpro/entry/IPR016024 Jabion 10527 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=10527 KEGG_Gene hsa:10527 http://www.genome.jp/dbget-bin/www_bget?hsa:10527 MIM 605586 http://www.ncbi.nlm.nih.gov/omim/605586 MINT MINT-5003960 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-5003960 OMA PIDEYQI http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=PIDEYQI OrthoDB EOG091G01IF http://cegg.unige.ch/orthodb/results?searchtext=EOG091G01IF PROSITE PS50166 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50166 PSORT swissprot:IPO7_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:IPO7_HUMAN PSORT-B swissprot:IPO7_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:IPO7_HUMAN PSORT2 swissprot:IPO7_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:IPO7_HUMAN Pfam PF03810 http://pfam.xfam.org/family/PF03810 Pfam PF08506 http://pfam.xfam.org/family/PF08506 PharmGKB PA34213 http://www.pharmgkb.org/do/serve?objId=PA34213&objCls=Gene Phobius swissprot:IPO7_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:IPO7_HUMAN PhylomeDB O95373 http://phylomedb.org/?seqid=O95373 ProteinModelPortal O95373 http://www.proteinmodelportal.org/query/uniprot/O95373 PubMed 10209022 http://www.ncbi.nlm.nih.gov/pubmed/10209022 PubMed 10228156 http://www.ncbi.nlm.nih.gov/pubmed/10228156 PubMed 12665801 http://www.ncbi.nlm.nih.gov/pubmed/12665801 PubMed 12853482 http://www.ncbi.nlm.nih.gov/pubmed/12853482 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16554811 http://www.ncbi.nlm.nih.gov/pubmed/16554811 PubMed 16704975 http://www.ncbi.nlm.nih.gov/pubmed/16704975 PubMed 17081983 http://www.ncbi.nlm.nih.gov/pubmed/17081983 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 19413330 http://www.ncbi.nlm.nih.gov/pubmed/19413330 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 22223895 http://www.ncbi.nlm.nih.gov/pubmed/22223895 PubMed 22814378 http://www.ncbi.nlm.nih.gov/pubmed/22814378 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 26878725 http://www.ncbi.nlm.nih.gov/pubmed/26878725 PubMed 9214382 http://www.ncbi.nlm.nih.gov/pubmed/9214382 PubMed 9687515 http://www.ncbi.nlm.nih.gov/pubmed/9687515 RefSeq NP_006382 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_006382 SMART SM00913 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00913 STRING 9606.ENSP00000369042 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000369042&targetmode=cogs SUPFAM SSF48371 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48371 TCDB 1.I.1.1 http://www.tcdb.org/search/result.php?tc=1.I.1.1 UCSC uc001mho http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001mho&org=rat UniGene Hs.744911 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.744911 UniProtKB IPO7_HUMAN http://www.uniprot.org/uniprot/IPO7_HUMAN UniProtKB-AC O95373 http://www.uniprot.org/uniprot/O95373 charge swissprot:IPO7_HUMAN http://rest.g-language.org/emboss/charge/swissprot:IPO7_HUMAN eggNOG COG5656 http://eggnogapi.embl.de/nog_data/html/tree/COG5656 eggNOG KOG1991 http://eggnogapi.embl.de/nog_data/html/tree/KOG1991 epestfind swissprot:IPO7_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:IPO7_HUMAN garnier swissprot:IPO7_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:IPO7_HUMAN helixturnhelix swissprot:IPO7_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:IPO7_HUMAN hmoment swissprot:IPO7_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:IPO7_HUMAN iep swissprot:IPO7_HUMAN http://rest.g-language.org/emboss/iep/swissprot:IPO7_HUMAN inforesidue swissprot:IPO7_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:IPO7_HUMAN neXtProt NX_O95373 http://www.nextprot.org/db/entry/NX_O95373 octanol swissprot:IPO7_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:IPO7_HUMAN pepcoil swissprot:IPO7_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:IPO7_HUMAN pepdigest swissprot:IPO7_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:IPO7_HUMAN pepinfo swissprot:IPO7_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:IPO7_HUMAN pepnet swissprot:IPO7_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:IPO7_HUMAN pepstats swissprot:IPO7_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:IPO7_HUMAN pepwheel swissprot:IPO7_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:IPO7_HUMAN pepwindow swissprot:IPO7_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:IPO7_HUMAN sigcleave swissprot:IPO7_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:IPO7_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS CTL2_HUMAN Event=Alternative promoter usage, Alternative splicing; Named isoforms=3; Name=1; Synonyms=CTL2a, CTL2P2A; IsoId=Q8IWA5-1; Sequence=Displayed; Name=2; Synonyms=CTL2b, CTL2P2B; IsoId=Q8IWA5-2; Sequence=VSP_015431; Name=3; Synonyms=CTL2P1; IsoId=Q8IWA5-3; Sequence=VSP_041792; Note=Produced by alternative promoter usage.; # AltName CTL2_HUMAN Solute carrier family 44 member 2 # CCDS CCDS12245 -. [Q8IWA5-1] # CCDS CCDS54216 -. [Q8IWA5-3] # ChiTaRS SLC44A2 human # DrugBank DB00122 Choline # Ensembl ENST00000335757 ENSP00000336888; ENSG00000129353. [Q8IWA5-1] # Ensembl ENST00000407327 ENSP00000385135; ENSG00000129353. [Q8IWA5-3] # Ensembl ENST00000586078 ENSP00000466664; ENSG00000129353. [Q8IWA5-2] # ExpressionAtlas Q8IWA5 baseline and differential # FUNCTION CTL2_HUMAN Isoform 1, but not isoform 3, exhibits some choline transporter activity. {ECO 0000269|PubMed 10677542, ECO 0000269|PubMed 20665236}. # GO_component GO:0005765 lysosomal membrane; IDA:UniProtKB. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0016021 integral component of membrane; TAS:UniProtKB. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0004871 signal transducer activity; IMP:UniProtKB. # GO_function GO:0015220 choline transmembrane transporter activity; TAS:UniProtKB. # GO_process GO:0006656 phosphatidylcholine biosynthetic process; TAS:Reactome. # GO_process GO:0015871 choline transport; TAS:UniProtKB. # GO_process GO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling; IMP:UniProtKB. # GO_process GO:0055085 transmembrane transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006629 lipid metabolic process # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0055085 transmembrane transport # Genevisible Q8IWA5 HS # HGNC HGNC:17292 SLC44A2 # InterPro IPR007603 Choline_transptr-like # KEGG_Brite ko02001 Solute carrier family # MIM 606106 gene # Organism CTL2_HUMAN Homo sapiens (Human) # PANTHER PTHR12385 PTHR12385; 2 # Pfam PF04515 Choline_transpo # Proteomes UP000005640 Chromosome 19 # Reactome R-HSA-1483191 Synthesis of PC # Reactome R-HSA-425366 Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds # Reactome R-HSA-6798695 Neutrophil degranulation # RecName CTL2_HUMAN Choline transporter-like protein 2 # RefSeq NP_001138528 NM_001145056.1. [Q8IWA5-3] # RefSeq NP_065161 NM_020428.3. [Q8IWA5-1] # RefSeq XP_005260054 XM_005259997.1. [Q8IWA5-2] # SEQUENCE CAUTION Sequence=BAC11662.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the CTL (choline transporter-like) family. {ECO 0000305}. # SUBCELLULAR LOCATION CTL2_HUMAN Membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. # SUBUNIT Interacts with COCH. {ECO:0000269|PubMed 17926100}. # TCDB 2.A.92.1 the choline transporter-like (ctl) family # TISSUE SPECIFICITY CTL2_HUMAN Present in supporting cells of the inner ear (at protein level). Only isoform 3 is expressed in inner ear vestibular tissue. {ECO 0000269|PubMed 14973250, ECO 0000269|PubMed 20665236}. # UCSC uc002mpe human. [Q8IWA5-1] # eggNOG ENOG410XS0P LUCA # eggNOG KOG1362 Eukaryota BLAST swissprot:CTL2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CTL2_HUMAN COXPRESdb 57153 http://coxpresdb.jp/data/gene/57153.shtml CleanEx HS_SLC44A2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC44A2 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1007/s10162-007-0099-2 http://dx.doi.org/10.1007/s10162-007-0099-2 DOI 10.1007/s10930-010-9268-y http://dx.doi.org/10.1007/s10930-010-9268-y DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1021/pr8008012 http://dx.doi.org/10.1021/pr8008012 DOI 10.1038/nature02399 http://dx.doi.org/10.1038/nature02399 DOI 10.1038/nbt.1532 http://dx.doi.org/10.1038/nbt.1532 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.030339697 http://dx.doi.org/10.1073/pnas.030339697 DOI 10.1093/dnares/12.2.117 http://dx.doi.org/10.1093/dnares/12.2.117 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 DOI 10.1523/JNEUROSCI.5063-03.2004 http://dx.doi.org/10.1523/JNEUROSCI.5063-03.2004 DrugBank DB00122 http://www.drugbank.ca/drugs/DB00122 EMBL AC011475 http://www.ebi.ac.uk/ena/data/view/AC011475 EMBL AF070636 http://www.ebi.ac.uk/ena/data/view/AF070636 EMBL AJ245621 http://www.ebi.ac.uk/ena/data/view/AJ245621 EMBL AK027519 http://www.ebi.ac.uk/ena/data/view/AK027519 EMBL AK075512 http://www.ebi.ac.uk/ena/data/view/AK075512 EMBL AK294118 http://www.ebi.ac.uk/ena/data/view/AK294118 EMBL AK314582 http://www.ebi.ac.uk/ena/data/view/AK314582 EMBL AL832517 http://www.ebi.ac.uk/ena/data/view/AL832517 EMBL AL832978 http://www.ebi.ac.uk/ena/data/view/AL832978 EMBL BC010617 http://www.ebi.ac.uk/ena/data/view/BC010617 EMBL BC040556 http://www.ebi.ac.uk/ena/data/view/BC040556 EMBL CH471106 http://www.ebi.ac.uk/ena/data/view/CH471106 EMBL FN668568 http://www.ebi.ac.uk/ena/data/view/FN668568 Ensembl ENST00000335757 http://www.ensembl.org/id/ENST00000335757 Ensembl ENST00000407327 http://www.ensembl.org/id/ENST00000407327 Ensembl ENST00000586078 http://www.ensembl.org/id/ENST00000586078 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005765 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005765 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GO_function GO:0015220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015220 GO_process GO:0006656 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006656 GO_process GO:0015871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015871 GO_process GO:0043123 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043123 GO_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006629 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006629 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC44A2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC44A2 GeneID 57153 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=57153 GeneTree ENSGT00550000074521 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074521 H-InvDB HIX0202740 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0202740 HGNC HGNC:17292 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:17292 HOVERGEN HBG062155 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG062155&db=HOVERGEN HPA HPA003228 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA003228 InParanoid Q8IWA5 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8IWA5 IntAct Q8IWA5 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q8IWA5* InterPro IPR007603 http://www.ebi.ac.uk/interpro/entry/IPR007603 Jabion 57153 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=57153 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:57153 http://www.genome.jp/dbget-bin/www_bget?hsa:57153 KEGG_Orthology KO:K15377 http://www.genome.jp/dbget-bin/www_bget?KO:K15377 MIM 606106 http://www.ncbi.nlm.nih.gov/omim/606106 MINT MINT-5006445 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-5006445 OMA QHYYGKH http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=QHYYGKH OrthoDB EOG091G04CQ http://cegg.unige.ch/orthodb/results?searchtext=EOG091G04CQ PANTHER PTHR12385 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12385 PSORT swissprot:CTL2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CTL2_HUMAN PSORT-B swissprot:CTL2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CTL2_HUMAN PSORT2 swissprot:CTL2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CTL2_HUMAN Pfam PF04515 http://pfam.xfam.org/family/PF04515 PharmGKB PA142670899 http://www.pharmgkb.org/do/serve?objId=PA142670899&objCls=Gene Phobius swissprot:CTL2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CTL2_HUMAN PhylomeDB Q8IWA5 http://phylomedb.org/?seqid=Q8IWA5 ProteinModelPortal Q8IWA5 http://www.proteinmodelportal.org/query/uniprot/Q8IWA5 PubMed 10677542 http://www.ncbi.nlm.nih.gov/pubmed/10677542 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 14973250 http://www.ncbi.nlm.nih.gov/pubmed/14973250 PubMed 15057824 http://www.ncbi.nlm.nih.gov/pubmed/15057824 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16303743 http://www.ncbi.nlm.nih.gov/pubmed/16303743 PubMed 17926100 http://www.ncbi.nlm.nih.gov/pubmed/17926100 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 PubMed 19159218 http://www.ncbi.nlm.nih.gov/pubmed/19159218 PubMed 19349973 http://www.ncbi.nlm.nih.gov/pubmed/19349973 PubMed 20665236 http://www.ncbi.nlm.nih.gov/pubmed/20665236 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 Reactome R-HSA-1483191 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1483191 Reactome R-HSA-425366 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-425366 Reactome R-HSA-6798695 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6798695 RefSeq NP_001138528 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001138528 RefSeq NP_065161 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_065161 RefSeq XP_005260054 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005260054 SMR Q8IWA5 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q8IWA5 STRING 9606.ENSP00000336888 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000336888&targetmode=cogs TCDB 2.A.92.1 http://www.tcdb.org/search/result.php?tc=2.A.92.1 UCSC uc002mpe http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002mpe&org=rat UniGene Hs.534560 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.534560 UniProtKB CTL2_HUMAN http://www.uniprot.org/uniprot/CTL2_HUMAN UniProtKB-AC Q8IWA5 http://www.uniprot.org/uniprot/Q8IWA5 charge swissprot:CTL2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CTL2_HUMAN eggNOG ENOG410XS0P http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XS0P eggNOG KOG1362 http://eggnogapi.embl.de/nog_data/html/tree/KOG1362 epestfind swissprot:CTL2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CTL2_HUMAN garnier swissprot:CTL2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CTL2_HUMAN helixturnhelix swissprot:CTL2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CTL2_HUMAN hmoment swissprot:CTL2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CTL2_HUMAN iep swissprot:CTL2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CTL2_HUMAN inforesidue swissprot:CTL2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CTL2_HUMAN neXtProt NX_Q8IWA5 http://www.nextprot.org/db/entry/NX_Q8IWA5 octanol swissprot:CTL2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CTL2_HUMAN pepcoil swissprot:CTL2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CTL2_HUMAN pepdigest swissprot:CTL2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CTL2_HUMAN pepinfo swissprot:CTL2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CTL2_HUMAN pepnet swissprot:CTL2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CTL2_HUMAN pepstats swissprot:CTL2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CTL2_HUMAN pepwheel swissprot:CTL2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CTL2_HUMAN pepwindow swissprot:CTL2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CTL2_HUMAN sigcleave swissprot:CTL2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CTL2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS TRPC4_HUMAN Event=Alternative splicing; Named isoforms=7; Name=Alpha; IsoId=Q9UBN4-1; Sequence=Displayed; Name=Beta; IsoId=Q9UBN4-2; Sequence=VSP_006569; Name=Delta; IsoId=Q9UBN4-3; Sequence=VSP_006568; Name=Gamma; IsoId=Q9UBN4-4; Sequence=VSP_006567, VSP_006569; Name=Epsilon; IsoId=Q9UBN4-5; Sequence=VSP_041262; Name=Zeta; IsoId=Q9UBN4-6; Sequence=VSP_041439; Name=Eta; IsoId=Q9UBN4-7; Sequence=VSP_047747, VSP_047748; # AltName TRPC4_HUMAN Trp-related protein 4 # BioGrid 113074 12 # CCDS CCDS45035 -. [Q9UBN4-6] # CCDS CCDS45036 -. [Q9UBN4-4] # CCDS CCDS45037 -. [Q9UBN4-5] # CCDS CCDS45038 -. [Q9UBN4-2] # CCDS CCDS45039 -. [Q9UBN4-3] # CCDS CCDS9365 -. [Q9UBN4-1] # ChiTaRS TRPC4 human # DOMAIN TRPC4_HUMAN The calmodulin- and inositol 1,4,5-trisphosphate receptor- binding (CIRB) domain (695-724) is sufficient for the interaction with SESTD1. # DOMAIN TRPC4_HUMAN The protein 4.1-binding domain (654-685) is required for binding to EPB41L2 and channel activation. # DOMAIN TRPC4_HUMAN The spectrin-binding domain (730-758) is required for binding to SPTAN1 and SPTBN5. # Ensembl ENST00000338947 ENSP00000342580; ENSG00000133107. [Q9UBN4-6] # Ensembl ENST00000355779 ENSP00000348025; ENSG00000133107. [Q9UBN4-3] # Ensembl ENST00000358477 ENSP00000351264; ENSG00000133107. [Q9UBN4-2] # Ensembl ENST00000379673 ENSP00000368995; ENSG00000133107. [Q9UBN4-4] # Ensembl ENST00000379679 ENSP00000369001; ENSG00000133107. [Q9UBN4-6] # Ensembl ENST00000379705 ENSP00000369027; ENSG00000133107. [Q9UBN4-1] # Ensembl ENST00000488717 ENSP00000435969; ENSG00000133107. [Q9UBN4-7] # Ensembl ENST00000625583 ENSP00000486109; ENSG00000133107. [Q9UBN4-5] # ExpressionAtlas Q9UBN4 baseline and differential # FUNCTION TRPC4_HUMAN Form a receptor-activated non-selective calcium permeant cation channel. Acts as a cell-cell contact-dependent endothelial calcium entry channel. Probably operated by a phosphatidylinositol second messenger system activated by receptor tyrosine kinases or G-protein coupled receptors. Mediates cation entry, with an enhanced permeability to barium over calcium. May also be activated by intracellular calcium store depletion. {ECO 0000269|PubMed 16144838, ECO 0000269|PubMed 19996314}. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0005901 caveola; IEA:Ensembl. # GO_component GO:0009986 cell surface; IDA:BHF-UCL. # GO_component GO:0016323 basolateral plasma membrane; IDA:BHF-UCL. # GO_component GO:0030863 cortical cytoskeleton; IDA:UniProtKB. # GO_component GO:0034704 calcium channel complex; IDA:UniProtKB. # GO_component GO:0043234 protein complex; IEA:Ensembl. # GO_function GO:0005262 calcium channel activity; TAS:Reactome. # GO_function GO:0008013 beta-catenin binding; IPI:BHF-UCL. # GO_function GO:0015279 store-operated calcium channel activity; IMP:UniProtKB. # GO_function GO:0045296 cadherin binding; IPI:BHF-UCL. # GO_function GO:0070679 inositol 1,4,5 trisphosphate binding; IEA:Ensembl. # GO_process GO:0006816 calcium ion transport; TAS:ProtInc. # GO_process GO:0006828 manganese ion transport; IBA:GO_Central. # GO_process GO:0014051 gamma-aminobutyric acid secretion; IEA:Ensembl. # GO_process GO:0048709 oligodendrocyte differentiation; IEA:Ensembl. # GO_process GO:0051480 regulation of cytosolic calcium ion concentration; IBA:GO_Central. # GO_process GO:0070509 calcium ion import; IDA:BHF-UCL. # GO_process GO:0070588 calcium ion transmembrane transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005856 cytoskeleton # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0030154 cell differentiation # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.25.40.20 -; 1. # Genevisible Q9UBN4 HS # HGNC HGNC:12336 TRPC4 # INTERACTION TRPC4_HUMAN P20591 MX1; NbExp=2; IntAct=EBI-929504, EBI-929476; # IntAct Q9UBN4 2 # InterPro IPR002110 Ankyrin_rpt # InterPro IPR002153 TRPC_channel # InterPro IPR004729 TRP_channel # InterPro IPR005460 TRPC4_channel # InterPro IPR005821 Ion_trans_dom # InterPro IPR013555 TRP_dom # InterPro IPR020683 Ankyrin_rpt-contain_dom # KEGG_Brite ko04040 Ion channels # MIM 603651 gene # MISCELLANEOUS TRPC4_HUMAN The cell membrane presentation, the calcium entry function and the interaction with junctional proteins (CTNNB1 and CDH5) are controlled by endothelial cell-cell contacts. # MISCELLANEOUS TRPC4_HUMAN The interaction with spectrin is important in controlling the translocation of TRPC4 channels to the plasma membrane following EGF stimulation. # Organism TRPC4_HUMAN Homo sapiens (Human) # PANTHER PTHR10117 PTHR10117 # PANTHER PTHR10117:SF25 PTHR10117:SF25 # PRINTS PR01097 TRNSRECEPTRP # PRINTS PR01645 TRPCHANNEL4 # PROSITE PS50088 ANK_REPEAT # PROSITE PS50297 ANK_REP_REGION # PTM TRPC4_HUMAN Phosphorylation modulates TRPC channel function by regulating the level of TRPC4 at the cell surface and by increasing the association with SLC9A3R1/NHERF. {ECO 0000269|PubMed 16144838}. # Pfam PF00520 Ion_trans # Pfam PF08344 TRP_2 # Proteomes UP000005640 Chromosome 13 # Reactome R-HSA-3295583 TRP channels # Reactome R-HSA-418890 Role of second messengers in netrin-1 signaling # RecName TRPC4_HUMAN Short transient receptor potential channel 4 # RefSeq NP_001129427 NM_001135955.1. [Q9UBN4-2] # RefSeq NP_001129428 NM_001135956.1. [Q9UBN4-4] # RefSeq NP_001129429 NM_001135957.1. [Q9UBN4-3] # RefSeq NP_001129430 NM_001135958.1. [Q9UBN4-6] # RefSeq NP_003297 NM_003306.1. [Q9UBN4-5] # RefSeq NP_057263 NM_016179.2. [Q9UBN4-1] # SIMILARITY Belongs to the transient receptor (TC 1.A.4) family. STrpC subfamily. TRPC4 sub-subfamily. {ECO 0000305}. # SIMILARITY Contains 4 ANK repeats. {ECO:0000255|PROSITE- ProRule PRU00023}. # SMART SM00248 ANK; 2 # SUBCELLULAR LOCATION TRPC4_HUMAN Membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. Note=Enhanced insertion into the cell membrane after activation of the EGF receptor. # SUBUNIT TRPC4_HUMAN Interacts with TRPC4AP (By similarity). Homotetramer and heterotetramer with TRPC1 and/or TRPC5. Isoform alpha but not isoform beta associates with inositol 1,4,5-trisphosphate receptor (ITPR). Interacts with (via PDZ-binding domain) with SLC9A3R1/NHERF. Interacts with MX1 and RNF24. Interacts (via CIRB domain) with SESTD1 (via spectrin 1 repeat). Interacts with CDH5 and CTNNB1. Interacts with SPTAN1 (via C-terminal spectrin repeats) and SPTBN5 (via C-terminus). Interacts (via protein 4.1- binding domain) with EPB41L2. {ECO 0000250, ECO 0000269|PubMed 12032305, ECO 0000269|PubMed 12154080, ECO 0000269|PubMed 15757897, ECO 0000269|PubMed 16254212, ECO 0000269|PubMed 17850865, ECO 0000269|PubMed 18048348, ECO 0000269|PubMed 19996314, ECO 0000269|PubMed 20164195}. # SUPFAM SSF48403 SSF48403 # TCDB 1.A.4.1.12 the transient receptor potential ca(2+) channel (trp-cc) family # TIGRFAMs TIGR00870 trp # TISSUE SPECIFICITY Strongly expressed in placenta. Expressed at lower levels in heart, pancreas, kidney and brain. Expressed in endothelial cells. Isoform alpha was found to be the predominant isoform. Isoform beta was not found in pancreas and brain. {ECO:0000269|PubMed 19996314}. # UCSC uc001uws human. [Q9UBN4-1] # eggNOG ENOG410XQ0Y LUCA # eggNOG KOG3609 Eukaryota BLAST swissprot:TRPC4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:TRPC4_HUMAN BioCyc ZFISH:ENSG00000133107-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000133107-MONOMER COXPRESdb 7223 http://coxpresdb.jp/data/gene/7223.shtml CleanEx HS_TRPC4 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_TRPC4 DOI 10.1016/S0014-5793(00)02362-0 http://dx.doi.org/10.1016/S0014-5793(00)02362-0 DOI 10.1016/S0092-8674(00)81233-7 http://dx.doi.org/10.1016/S0092-8674(00)81233-7 DOI 10.1016/j.ceca.2007.07.009 http://dx.doi.org/10.1016/j.ceca.2007.07.009 DOI 10.1038/nature02379 http://dx.doi.org/10.1038/nature02379 DOI 10.1042/bj3510735 http://dx.doi.org/10.1042/bj3510735 DOI 10.1073/pnas.102596199 http://dx.doi.org/10.1073/pnas.102596199 DOI 10.1074/jbc.M109.060301 http://dx.doi.org/10.1074/jbc.M109.060301 DOI 10.1074/jbc.M109.068304 http://dx.doi.org/10.1074/jbc.M109.068304 DOI 10.1074/jbc.M109850200 http://dx.doi.org/10.1074/jbc.M109850200 DOI 10.1074/jbc.M500391200 http://dx.doi.org/10.1074/jbc.M500391200 DOI 10.1074/jbc.M503646200 http://dx.doi.org/10.1074/jbc.M503646200 DOI 10.1074/jbc.M709729200 http://dx.doi.org/10.1074/jbc.M709729200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1133427 http://dx.doi.org/10.1126/science.1133427 DOI 10.1161/01.RES.0000193597.65217.00 http://dx.doi.org/10.1161/01.RES.0000193597.65217.00 EMBL AF063822 http://www.ebi.ac.uk/ena/data/view/AF063822 EMBL AF063823 http://www.ebi.ac.uk/ena/data/view/AF063823 EMBL AF063824 http://www.ebi.ac.uk/ena/data/view/AF063824 EMBL AF063825 http://www.ebi.ac.uk/ena/data/view/AF063825 EMBL AF175406 http://www.ebi.ac.uk/ena/data/view/AF175406 EMBL AF421358 http://www.ebi.ac.uk/ena/data/view/AF421358 EMBL AF421359 http://www.ebi.ac.uk/ena/data/view/AF421359 EMBL AF421360 http://www.ebi.ac.uk/ena/data/view/AF421360 EMBL AF421361 http://www.ebi.ac.uk/ena/data/view/AF421361 EMBL AF421362 http://www.ebi.ac.uk/ena/data/view/AF421362 EMBL AL138679 http://www.ebi.ac.uk/ena/data/view/AL138679 EMBL AL138679 http://www.ebi.ac.uk/ena/data/view/AL138679 EMBL AL138679 http://www.ebi.ac.uk/ena/data/view/AL138679 EMBL AL138679 http://www.ebi.ac.uk/ena/data/view/AL138679 EMBL AL138679 http://www.ebi.ac.uk/ena/data/view/AL138679 EMBL AL138679 http://www.ebi.ac.uk/ena/data/view/AL138679 EMBL AL138679 http://www.ebi.ac.uk/ena/data/view/AL138679 EMBL AL138679 http://www.ebi.ac.uk/ena/data/view/AL138679 EMBL AL138679 http://www.ebi.ac.uk/ena/data/view/AL138679 EMBL AL138679 http://www.ebi.ac.uk/ena/data/view/AL138679 EMBL AL354802 http://www.ebi.ac.uk/ena/data/view/AL354802 EMBL AL354802 http://www.ebi.ac.uk/ena/data/view/AL354802 EMBL AL354802 http://www.ebi.ac.uk/ena/data/view/AL354802 EMBL AL354802 http://www.ebi.ac.uk/ena/data/view/AL354802 EMBL AL354802 http://www.ebi.ac.uk/ena/data/view/AL354802 EMBL AL354802 http://www.ebi.ac.uk/ena/data/view/AL354802 EMBL AL354802 http://www.ebi.ac.uk/ena/data/view/AL354802 EMBL AL354802 http://www.ebi.ac.uk/ena/data/view/AL354802 EMBL AL354802 http://www.ebi.ac.uk/ena/data/view/AL354802 EMBL AL354802 http://www.ebi.ac.uk/ena/data/view/AL354802 EMBL BC104725 http://www.ebi.ac.uk/ena/data/view/BC104725 EMBL CH471075 http://www.ebi.ac.uk/ena/data/view/CH471075 EMBL CH471075 http://www.ebi.ac.uk/ena/data/view/CH471075 EMBL CH471075 http://www.ebi.ac.uk/ena/data/view/CH471075 EMBL CH471075 http://www.ebi.ac.uk/ena/data/view/CH471075 EMBL CH471075 http://www.ebi.ac.uk/ena/data/view/CH471075 EMBL CH471075 http://www.ebi.ac.uk/ena/data/view/CH471075 EMBL U40983 http://www.ebi.ac.uk/ena/data/view/U40983 Ensembl ENST00000338947 http://www.ensembl.org/id/ENST00000338947 Ensembl ENST00000355779 http://www.ensembl.org/id/ENST00000355779 Ensembl ENST00000358477 http://www.ensembl.org/id/ENST00000358477 Ensembl ENST00000379673 http://www.ensembl.org/id/ENST00000379673 Ensembl ENST00000379679 http://www.ensembl.org/id/ENST00000379679 Ensembl ENST00000379705 http://www.ensembl.org/id/ENST00000379705 Ensembl ENST00000488717 http://www.ensembl.org/id/ENST00000488717 Ensembl ENST00000625583 http://www.ensembl.org/id/ENST00000625583 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0005901 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005901 GO_component GO:0009986 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009986 GO_component GO:0016323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016323 GO_component GO:0030863 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030863 GO_component GO:0034704 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034704 GO_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GO_function GO:0005262 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005262 GO_function GO:0008013 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008013 GO_function GO:0015279 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015279 GO_function GO:0045296 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045296 GO_function GO:0070679 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070679 GO_process GO:0006816 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006816 GO_process GO:0006828 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006828 GO_process GO:0014051 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014051 GO_process GO:0048709 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048709 GO_process GO:0051480 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051480 GO_process GO:0070509 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070509 GO_process GO:0070588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070588 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005856 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0030154 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030154 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.25.40.20 http://www.cathdb.info/version/latest/superfamily/1.25.40.20 GeneCards TRPC4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=TRPC4 GeneID 7223 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=7223 GeneTree ENSGT00760000119180 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119180 HGNC HGNC:12336 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:12336 HOGENOM HOG000151279 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000151279&db=HOGENOM6 HOVERGEN HBG068337 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG068337&db=HOVERGEN InParanoid Q9UBN4 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9UBN4 IntAct Q9UBN4 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9UBN4* InterPro IPR002110 http://www.ebi.ac.uk/interpro/entry/IPR002110 InterPro IPR002153 http://www.ebi.ac.uk/interpro/entry/IPR002153 InterPro IPR004729 http://www.ebi.ac.uk/interpro/entry/IPR004729 InterPro IPR005460 http://www.ebi.ac.uk/interpro/entry/IPR005460 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR013555 http://www.ebi.ac.uk/interpro/entry/IPR013555 InterPro IPR020683 http://www.ebi.ac.uk/interpro/entry/IPR020683 Jabion 7223 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=7223 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:7223 http://www.genome.jp/dbget-bin/www_bget?hsa:7223 KEGG_Orthology KO:K04967 http://www.genome.jp/dbget-bin/www_bget?KO:K04967 MIM 603651 http://www.ncbi.nlm.nih.gov/omim/603651 MINT MINT-157838 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-157838 OMA CILVDHR http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=CILVDHR OrthoDB EOG091G029I http://cegg.unige.ch/orthodb/results?searchtext=EOG091G029I PANTHER PTHR10117 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10117 PANTHER PTHR10117:SF25 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10117:SF25 PRINTS PR01097 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01097 PRINTS PR01645 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01645 PROSITE PS50088 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50088 PROSITE PS50297 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50297 PSORT swissprot:TRPC4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:TRPC4_HUMAN PSORT-B swissprot:TRPC4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:TRPC4_HUMAN PSORT2 swissprot:TRPC4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:TRPC4_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF08344 http://pfam.xfam.org/family/PF08344 PharmGKB PA37009 http://www.pharmgkb.org/do/serve?objId=PA37009&objCls=Gene Phobius swissprot:TRPC4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:TRPC4_HUMAN PhylomeDB Q9UBN4 http://phylomedb.org/?seqid=Q9UBN4 ProteinModelPortal Q9UBN4 http://www.proteinmodelportal.org/query/uniprot/Q9UBN4 PubMed 11042129 http://www.ncbi.nlm.nih.gov/pubmed/11042129 PubMed 11163362 http://www.ncbi.nlm.nih.gov/pubmed/11163362 PubMed 11713258 http://www.ncbi.nlm.nih.gov/pubmed/11713258 PubMed 12032305 http://www.ncbi.nlm.nih.gov/pubmed/12032305 PubMed 12154080 http://www.ncbi.nlm.nih.gov/pubmed/12154080 PubMed 15057823 http://www.ncbi.nlm.nih.gov/pubmed/15057823 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15757897 http://www.ncbi.nlm.nih.gov/pubmed/15757897 PubMed 16144838 http://www.ncbi.nlm.nih.gov/pubmed/16144838 PubMed 16254212 http://www.ncbi.nlm.nih.gov/pubmed/16254212 PubMed 16959974 http://www.ncbi.nlm.nih.gov/pubmed/16959974 PubMed 17850865 http://www.ncbi.nlm.nih.gov/pubmed/17850865 PubMed 18048348 http://www.ncbi.nlm.nih.gov/pubmed/18048348 PubMed 19996314 http://www.ncbi.nlm.nih.gov/pubmed/19996314 PubMed 20164195 http://www.ncbi.nlm.nih.gov/pubmed/20164195 PubMed 8646775 http://www.ncbi.nlm.nih.gov/pubmed/8646775 Reactome R-HSA-3295583 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-3295583 Reactome R-HSA-418890 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-418890 RefSeq NP_001129427 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001129427 RefSeq NP_001129428 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001129428 RefSeq NP_001129429 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001129429 RefSeq NP_001129430 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001129430 RefSeq NP_003297 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_003297 RefSeq NP_057263 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_057263 SMART SM00248 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00248 STRING 9606.ENSP00000369003 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000369003&targetmode=cogs SUPFAM SSF48403 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48403 TCDB 1.A.4.1.12 http://www.tcdb.org/search/result.php?tc=1.A.4.1.12 TIGRFAMs TIGR00870 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00870 UCSC uc001uws http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001uws&org=rat UniGene Hs.262960 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.262960 UniProtKB TRPC4_HUMAN http://www.uniprot.org/uniprot/TRPC4_HUMAN UniProtKB-AC Q9UBN4 http://www.uniprot.org/uniprot/Q9UBN4 charge swissprot:TRPC4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:TRPC4_HUMAN eggNOG ENOG410XQ0Y http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XQ0Y eggNOG KOG3609 http://eggnogapi.embl.de/nog_data/html/tree/KOG3609 epestfind swissprot:TRPC4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:TRPC4_HUMAN garnier swissprot:TRPC4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:TRPC4_HUMAN helixturnhelix swissprot:TRPC4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:TRPC4_HUMAN hmoment swissprot:TRPC4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:TRPC4_HUMAN iep swissprot:TRPC4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:TRPC4_HUMAN inforesidue swissprot:TRPC4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:TRPC4_HUMAN neXtProt NX_Q9UBN4 http://www.nextprot.org/db/entry/NX_Q9UBN4 octanol swissprot:TRPC4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:TRPC4_HUMAN pepcoil swissprot:TRPC4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:TRPC4_HUMAN pepdigest swissprot:TRPC4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:TRPC4_HUMAN pepinfo swissprot:TRPC4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:TRPC4_HUMAN pepnet swissprot:TRPC4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:TRPC4_HUMAN pepstats swissprot:TRPC4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:TRPC4_HUMAN pepwheel swissprot:TRPC4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:TRPC4_HUMAN pepwindow swissprot:TRPC4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:TRPC4_HUMAN sigcleave swissprot:TRPC4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:TRPC4_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS PK2L2_HUMAN Event=Alternative splicing; Named isoforms=7; Comment=Experimental confirmation may be lacking for some isoforms.; Name=1; IsoId=Q9NZM6-1; Sequence=Displayed; Name=2; Synonyms=PKD2L2b; IsoId=Q9NZM6-2; Sequence=VSP_004732, VSP_004735; Name=3; Synonyms=PKD2L2a; IsoId=Q9NZM6-3; Sequence=VSP_004736, VSP_004737; Name=4; Synonyms=PKD2L2c; IsoId=Q9NZM6-4; Sequence=VSP_004733, VSP_004734; Name=5; IsoId=Q9NZM6-5; Sequence=VSP_035775; Note=No experimental confirmation available.; Name=6; IsoId=Q9NZM6-6; Sequence=VSP_045582; Note=No experimental confirmation available.; Name=7; IsoId=Q9NZM6-7; Sequence=VSP_045581; Note=No experimental confirmation available.; # AltName PK2L2_HUMAN Polycystin-2L2 # AltName PK2L2_HUMAN Polycystin-L2 # BioGrid 117970 4 # CCDS CCDS43367 -. [Q9NZM6-5] # CCDS CCDS58971 -. [Q9NZM6-6] # CCDS CCDS58972 -. [Q9NZM6-7] # CCDS CCDS78062 -. [Q9NZM6-1] # Ensembl ENST00000290431 ENSP00000290431; ENSG00000078795. [Q9NZM6-5] # Ensembl ENST00000414094 ENSP00000388060; ENSG00000078795. [Q9NZM6-3] # Ensembl ENST00000502810 ENSP00000425513; ENSG00000078795. [Q9NZM6-7] # Ensembl ENST00000508638 ENSP00000423382; ENSG00000078795. [Q9NZM6-6] # Ensembl ENST00000508883 ENSP00000424725; ENSG00000078795. [Q9NZM6-1] # ExpressionAtlas Q9NZM6 baseline and differential # FUNCTION PK2L2_HUMAN May function as a subunit of a cation channel and play a role in fertilization. # GO_component GO:0016021 integral component of membrane; TAS:UniProtKB. # GO_function GO:0005262 calcium channel activity; IBA:GO_Central. # GO_function GO:0005509 calcium ion binding; IEA:InterPro. # GO_process GO:0050982 detection of mechanical stimulus; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0008150 biological_process # Genevisible Q9NZM6 HS # HGNC HGNC:9012 PKD2L2 # InterPro IPR003915 PKD_2 # InterPro IPR013122 PKD1_2_channel # KEGG_Brite ko04040 Ion channels # MIM 604669 gene # Organism PK2L2_HUMAN Homo sapiens (Human) # PRINTS PR01433 POLYCYSTIN2 # Pfam PF08016 PKD_channel # Proteomes UP000005640 Chromosome 5 # RecName PK2L2_HUMAN Polycystic kidney disease 2-like 2 protein # RefSeq NP_001245377 NM_001258448.1. [Q9NZM6-7] # RefSeq NP_001245378 NM_001258449.1. [Q9NZM6-6] # RefSeq NP_001287850 NM_001300921.1. [Q9NZM6-1] # RefSeq NP_055201 NM_014386.3. [Q9NZM6-5] # RefSeq XP_011541620 XM_011543318.2. [Q9NZM6-2] # SEQUENCE CAUTION Sequence=AAD46478.1; Type=Frameshift; Positions=595; Evidence={ECO 0000305}; # SIMILARITY Belongs to the polycystin family. {ECO 0000305}. # SUBCELLULAR LOCATION PK2L2_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # TISSUE SPECIFICITY According to PubMed:10602361, expressed only in testis. According to PubMed 10756092, expressed also in brain and kidney. Isoform 2 is found only in transformed lymphoblasts. Isoform 3 is found in all tissues tested. # UCSC uc003lbw human. [Q9NZM6-1] # eggNOG ENOG410XTGE LUCA # eggNOG KOG3599 Eukaryota BLAST swissprot:PK2L2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:PK2L2_HUMAN BioCyc ZFISH:ENSG00000078795-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000078795-MONOMER COXPRESdb 27039 http://coxpresdb.jp/data/gene/27039.shtml CleanEx HS_PKD2L2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_PKD2L2 DOI 10.1006/geno.2000.6131 http://dx.doi.org/10.1006/geno.2000.6131 DOI 10.1016/S0165-6147(00)01832-0 http://dx.doi.org/10.1016/S0165-6147(00)01832-0 DOI 10.1038/nature02919 http://dx.doi.org/10.1038/nature02919 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1038/sj.ejhg.5200383 http://dx.doi.org/10.1038/sj.ejhg.5200383 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AC106753 http://www.ebi.ac.uk/ena/data/view/AC106753 EMBL AC106791 http://www.ebi.ac.uk/ena/data/view/AC106791 EMBL AF118125 http://www.ebi.ac.uk/ena/data/view/AF118125 EMBL AF182034 http://www.ebi.ac.uk/ena/data/view/AF182034 EMBL AK301924 http://www.ebi.ac.uk/ena/data/view/AK301924 EMBL BC044581 http://www.ebi.ac.uk/ena/data/view/BC044581 EMBL CH471062 http://www.ebi.ac.uk/ena/data/view/CH471062 Ensembl ENST00000290431 http://www.ensembl.org/id/ENST00000290431 Ensembl ENST00000414094 http://www.ensembl.org/id/ENST00000414094 Ensembl ENST00000502810 http://www.ensembl.org/id/ENST00000502810 Ensembl ENST00000508638 http://www.ensembl.org/id/ENST00000508638 Ensembl ENST00000508883 http://www.ensembl.org/id/ENST00000508883 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005262 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005262 GO_function GO:0005509 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005509 GO_process GO:0050982 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050982 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GeneCards PKD2L2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=PKD2L2 GeneID 27039 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=27039 GeneTree ENSGT00700000104221 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00700000104221 H-InvDB HIX0024797 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0024797 HGNC HGNC:9012 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:9012 HOGENOM HOG000230858 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000230858&db=HOGENOM6 HOVERGEN HBG014945 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG014945&db=HOVERGEN HPA HPA041903 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA041903 HPA HPA043634 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA043634 InParanoid Q9NZM6 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9NZM6 InterPro IPR003915 http://www.ebi.ac.uk/interpro/entry/IPR003915 InterPro IPR013122 http://www.ebi.ac.uk/interpro/entry/IPR013122 Jabion 27039 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=27039 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:27039 http://www.genome.jp/dbget-bin/www_bget?hsa:27039 KEGG_Orthology KO:K04991 http://www.genome.jp/dbget-bin/www_bget?KO:K04991 MIM 604669 http://www.ncbi.nlm.nih.gov/omim/604669 OMA IKEHANR http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=IKEHANR OrthoDB EOG091G034F http://cegg.unige.ch/orthodb/results?searchtext=EOG091G034F PRINTS PR01433 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01433 PSORT swissprot:PK2L2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:PK2L2_HUMAN PSORT-B swissprot:PK2L2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:PK2L2_HUMAN PSORT2 swissprot:PK2L2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:PK2L2_HUMAN Pfam PF08016 http://pfam.xfam.org/family/PF08016 PharmGKB PA33345 http://www.pharmgkb.org/do/serve?objId=PA33345&objCls=Gene Phobius swissprot:PK2L2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:PK2L2_HUMAN PhylomeDB Q9NZM6 http://phylomedb.org/?seqid=Q9NZM6 ProteinModelPortal Q9NZM6 http://www.proteinmodelportal.org/query/uniprot/Q9NZM6 PubMed 10602361 http://www.ncbi.nlm.nih.gov/pubmed/10602361 PubMed 10756092 http://www.ncbi.nlm.nih.gov/pubmed/10756092 PubMed 11698076 http://www.ncbi.nlm.nih.gov/pubmed/11698076 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15372022 http://www.ncbi.nlm.nih.gov/pubmed/15372022 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 RefSeq NP_001245377 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001245377 RefSeq NP_001245378 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001245378 RefSeq NP_001287850 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001287850 RefSeq NP_055201 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_055201 RefSeq XP_011541620 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011541620 STRING 9606.ENSP00000290431 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000290431&targetmode=cogs UCSC uc003lbw http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003lbw&org=rat UniGene Hs.716884 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.716884 UniProtKB PK2L2_HUMAN http://www.uniprot.org/uniprot/PK2L2_HUMAN UniProtKB-AC Q9NZM6 http://www.uniprot.org/uniprot/Q9NZM6 charge swissprot:PK2L2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:PK2L2_HUMAN eggNOG ENOG410XTGE http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XTGE eggNOG KOG3599 http://eggnogapi.embl.de/nog_data/html/tree/KOG3599 epestfind swissprot:PK2L2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:PK2L2_HUMAN garnier swissprot:PK2L2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:PK2L2_HUMAN helixturnhelix swissprot:PK2L2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:PK2L2_HUMAN hmoment swissprot:PK2L2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:PK2L2_HUMAN iep swissprot:PK2L2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:PK2L2_HUMAN inforesidue swissprot:PK2L2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:PK2L2_HUMAN neXtProt NX_Q9NZM6 http://www.nextprot.org/db/entry/NX_Q9NZM6 octanol swissprot:PK2L2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:PK2L2_HUMAN pepcoil swissprot:PK2L2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:PK2L2_HUMAN pepdigest swissprot:PK2L2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:PK2L2_HUMAN pepinfo swissprot:PK2L2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:PK2L2_HUMAN pepnet swissprot:PK2L2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:PK2L2_HUMAN pepstats swissprot:PK2L2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:PK2L2_HUMAN pepwheel swissprot:PK2L2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:PK2L2_HUMAN pepwindow swissprot:PK2L2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:PK2L2_HUMAN sigcleave swissprot:PK2L2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:PK2L2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS ACHA4_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P43681-1; Sequence=Displayed; Name=2; IsoId=P43681-2; Sequence=VSP_054275, VSP_054276; Note=No experimental confirmation available.; # BioGrid 107559 4 # CCDS CCDS13517 -. [P43681-1] # ChiTaRS CHRNA4 human # DISEASE ACHA4_HUMAN Epilepsy, nocturnal frontal lobe, 1 (ENFL1) [MIM 600513] An autosomal dominant focal epilepsy characterized by nocturnal seizures with hyperkinetic automatisms and poorly organized stereotyped movements. {ECO 0000269|PubMed 10563623, ECO 0000269|PubMed 14623738, ECO 0000269|PubMed 7550350}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DrugBank DB00184 Nicotine # DrugBank DB00237 Butabarbital # DrugBank DB00241 Butalbital # DrugBank DB00306 Talbutal # DrugBank DB00312 Pentobarbital # DrugBank DB00418 Secobarbital # DrugBank DB00514 Dextromethorphan # DrugBank DB00599 Thiopental # DrugBank DB00674 Galantamine # DrugBank DB00794 Primidone # DrugBank DB00849 Methylphenobarbital # DrugBank DB00898 Ethanol # DrugBank DB01174 Phenobarbital # DrugBank DB01273 Varenicline # DrugBank DB01351 Amobarbital # DrugBank DB01352 Aprobarbital # DrugBank DB01353 Butethal # DrugBank DB01354 Heptabarbital # DrugBank DB01355 Hexobarbital # DrugBank DB09028 Cytisine # Ensembl ENST00000370263 ENSP00000359285; ENSG00000101204. [P43681-1] # Ensembl ENST00000615287 ENSP00000483388; ENSG00000101204. [P43681-2] # ExpressionAtlas P43681 baseline and differential # FUNCTION ACHA4_HUMAN After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane permeable to sodium ions. {ECO 0000269|PubMed 22361591}. # GO_component GO:0005886 plasma membrane; ISS:UniProtKB. # GO_component GO:0005892 acetylcholine-gated channel complex; IDA:UniProtKB. # GO_component GO:0009897 external side of plasma membrane; ISS:UniProtKB. # GO_component GO:0016020 membrane; ISS:UniProtKB. # GO_component GO:0016021 integral component of membrane; NAS:UniProtKB. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0030425 dendrite; ISS:UniProtKB. # GO_component GO:0043025 neuronal cell body; ISS:UniProtKB. # GO_component GO:0045211 postsynaptic membrane; IEA:UniProtKB-SubCell. # GO_function GO:0004889 acetylcholine-activated cation-selective channel activity; IDA:UniProtKB. # GO_function GO:0015276 ligand-gated ion channel activity; TAS:DFLAT. # GO_function GO:0015464 acetylcholine receptor activity; IDA:UniProtKB. # GO_function GO:0042166 acetylcholine binding; IC:UniProtKB. # GO_process GO:0001508 action potential; ISS:UniProtKB. # GO_process GO:0001666 response to hypoxia; IDA:UniProtKB. # GO_process GO:0006281 DNA repair; IMP:UniProtKB. # GO_process GO:0006811 ion transport; NAS:UniProtKB. # GO_process GO:0006816 calcium ion transport; ISS:UniProtKB. # GO_process GO:0006979 response to oxidative stress; IMP:UniProtKB. # GO_process GO:0007165 signal transduction; IDA:UniProtKB. # GO_process GO:0007268 chemical synaptic transmission; NAS:UniProtKB. # GO_process GO:0007271 synaptic transmission, cholinergic; ISS:UniProtKB. # GO_process GO:0007274 neuromuscular synaptic transmission; IBA:GO_Central. # GO_process GO:0007585 respiratory gaseous exchange; IEA:Ensembl. # GO_process GO:0007626 locomotory behavior; IEA:Ensembl. # GO_process GO:0014059 regulation of dopamine secretion; ISS:UniProtKB. # GO_process GO:0019233 sensory perception of pain; ISS:UniProtKB. # GO_process GO:0035094 response to nicotine; IDA:UniProtKB. # GO_process GO:0035095 behavioral response to nicotine; IMP:UniProtKB. # GO_process GO:0035640 exploration behavior; IEA:Ensembl. # GO_process GO:0042113 B cell activation; ISS:UniProtKB. # GO_process GO:0042391 regulation of membrane potential; ISS:UniProtKB. # GO_process GO:0050877 neurological system process; IMP:UniProtKB. # GO_process GO:0050890 cognition; IMP:UniProtKB. # GO_process GO:0051899 membrane depolarization; ISS:UniProtKB. # GO_process GO:0060080 inhibitory postsynaptic potential; ISS:UniProtKB. # GO_process GO:0095500 acetylcholine receptor signaling pathway; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0002376 immune system process # GOslim_process GO:0006259 DNA metabolic process # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # GOslim_process GO:0050877 neurological system process # Gene3D 1.20.120.370 -; 2. # Gene3D 2.70.170.10 -; 1. # Genevisible P43681 HS # HGNC HGNC:1958 CHRNA4 # IntAct P43681 2 # InterPro IPR002394 Nicotinic_acetylcholine_rcpt # InterPro IPR006029 Neurotrans-gated_channel_TM # InterPro IPR006201 Neur_channel # InterPro IPR006202 Neur_chan_lig-bd # InterPro IPR018000 Neurotransmitter_ion_chnl_CS # InterPro IPR027361 Acetylcholine_rcpt_TM # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00807 [Nervous system disease] Nocturnal frontal lobe epilepsy (NFLE) # KEGG_Pathway ko04080 Neuroactive ligand-receptor interaction # KEGG_Pathway ko04725 Cholinergic synapse # KEGG_Pathway ko05033 Nicotine addiction # MIM 118504 gene # MIM 600513 phenotype # Organism ACHA4_HUMAN Homo sapiens (Human) # Orphanet 98784 Autosomal dominant nocturnal frontal lobe epilepsy # PANTHER PTHR18945 PTHR18945; 3 # PDB 2GVT Model; -; A/C=38-241 # PDB 2LLY NMR; -; A=240-339, A=598-626 # PDB 5KXI X-ray; 3.94 A; A/D=27-364, A/D=586-627 # PIR JC4021 JC4021 # PRINTS PR00252 NRIONCHANNEL # PRINTS PR00254 NICOTINICR # PROSITE PS00236 NEUROTR_ION_CHANNEL # Pfam PF02931 Neur_chan_LBD # Pfam PF02932 Neur_chan_memb # Proteomes UP000005640 Chromosome 20 # Reactome R-HSA-629587 Highly sodium permeable acetylcholine nicotinic receptors # Reactome R-HSA-629594 Highly calcium permeable postsynaptic nicotinic acetylcholine receptors # Reactome R-HSA-629597 Highly calcium permeable nicotinic acetylcholine receptors # RecName ACHA4_HUMAN Neuronal acetylcholine receptor subunit alpha-4 # RefSeq NP_000735 NM_000744.6. [P43681-1] # RefSeq NP_001243502 NM_001256573.1 # RefSeq XP_011526826 XM_011528524.1. [P43681-2] # SIMILARITY Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Alpha- 4/CHRNA4 sub-subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION ACHA4_HUMAN Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. Cell membrane {ECO 0000250}; Lipid-anchor {ECO 0000250}. # SUBUNIT ACHA4_HUMAN Neuronal AChR is composed of two different types of subunits alpha and beta. Alpha-4 subunit can be combined to beta- 2 or beta-4 to give rise to functional receptors, complexes with beta-2 may be heteropentamers. Interacts with RIC3; which is required for proper folding and assembly. {ECO 0000269|PubMed 16120769, ECO 0000269|PubMed 22361591}. # SUPFAM SSF63712 SSF63712 # SUPFAM SSF90112 SSF90112; 2 # TCDB 1.A.9.1 the neurotransmitter receptor, cys loop, ligand-gated ion channel (lic) family # TIGRFAMs TIGR00860 LIC # UCSC uc002yes human. [P43681-1] # WEB RESOURCE ACHA4_HUMAN Name=NIEHS-SNPs; URL="http //egp.gs.washington.edu/data/chrna4/"; # eggNOG ENOG410XQGR LUCA # eggNOG KOG3645 Eukaryota BLAST swissprot:ACHA4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ACHA4_HUMAN BioCyc ZFISH:ENSG00000101204-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000101204-MONOMER COXPRESdb 1137 http://coxpresdb.jp/data/gene/1137.shtml CleanEx HS_CHRNA4 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CHRNA4 DOI 10.1001/archneur.60.11.1625 http://dx.doi.org/10.1001/archneur.60.11.1625 DOI 10.1006/geno.1996.0119 http://dx.doi.org/10.1006/geno.1996.0119 DOI 10.1007/BF02736842 http://dx.doi.org/10.1007/BF02736842 DOI 10.1016/0378-1119(94)00914-E http://dx.doi.org/10.1016/0378-1119(94)00914-E DOI 10.1016/S0014-5793(96)01383-X http://dx.doi.org/10.1016/S0014-5793(96)01383-X DOI 10.1016/j.bbamem.2012.02.008 http://dx.doi.org/10.1016/j.bbamem.2012.02.008 DOI 10.1038/414865a http://dx.doi.org/10.1038/414865a DOI 10.1038/ng1095-201 http://dx.doi.org/10.1038/ng1095-201 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1124/mol.105.017459 http://dx.doi.org/10.1124/mol.105.017459 DOI 10.1212/WNL.53.8.1749 http://dx.doi.org/10.1212/WNL.53.8.1749 DrugBank DB00184 http://www.drugbank.ca/drugs/DB00184 DrugBank DB00237 http://www.drugbank.ca/drugs/DB00237 DrugBank DB00241 http://www.drugbank.ca/drugs/DB00241 DrugBank DB00306 http://www.drugbank.ca/drugs/DB00306 DrugBank DB00312 http://www.drugbank.ca/drugs/DB00312 DrugBank DB00418 http://www.drugbank.ca/drugs/DB00418 DrugBank DB00514 http://www.drugbank.ca/drugs/DB00514 DrugBank DB00599 http://www.drugbank.ca/drugs/DB00599 DrugBank DB00674 http://www.drugbank.ca/drugs/DB00674 DrugBank DB00794 http://www.drugbank.ca/drugs/DB00794 DrugBank DB00849 http://www.drugbank.ca/drugs/DB00849 DrugBank DB00898 http://www.drugbank.ca/drugs/DB00898 DrugBank DB01174 http://www.drugbank.ca/drugs/DB01174 DrugBank DB01273 http://www.drugbank.ca/drugs/DB01273 DrugBank DB01351 http://www.drugbank.ca/drugs/DB01351 DrugBank DB01352 http://www.drugbank.ca/drugs/DB01352 DrugBank DB01353 http://www.drugbank.ca/drugs/DB01353 DrugBank DB01354 http://www.drugbank.ca/drugs/DB01354 DrugBank DB01355 http://www.drugbank.ca/drugs/DB01355 DrugBank DB09028 http://www.drugbank.ca/drugs/DB09028 EMBL AL121827 http://www.ebi.ac.uk/ena/data/view/AL121827 EMBL BC096290 http://www.ebi.ac.uk/ena/data/view/BC096290 EMBL BC096291 http://www.ebi.ac.uk/ena/data/view/BC096291 EMBL DQ093071 http://www.ebi.ac.uk/ena/data/view/DQ093071 EMBL L35901 http://www.ebi.ac.uk/ena/data/view/L35901 EMBL U62433 http://www.ebi.ac.uk/ena/data/view/U62433 EMBL X87629 http://www.ebi.ac.uk/ena/data/view/X87629 EMBL X89741 http://www.ebi.ac.uk/ena/data/view/X89741 EMBL X89742 http://www.ebi.ac.uk/ena/data/view/X89742 EMBL X89743 http://www.ebi.ac.uk/ena/data/view/X89743 EMBL X89744 http://www.ebi.ac.uk/ena/data/view/X89744 EMBL X89745 http://www.ebi.ac.uk/ena/data/view/X89745 EMBL X89746 http://www.ebi.ac.uk/ena/data/view/X89746 EMBL Y08421 http://www.ebi.ac.uk/ena/data/view/Y08421 Ensembl ENST00000370263 http://www.ensembl.org/id/ENST00000370263 Ensembl ENST00000615287 http://www.ensembl.org/id/ENST00000615287 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005892 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005892 GO_component GO:0009897 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009897 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0030425 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030425 GO_component GO:0043025 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043025 GO_component GO:0045211 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045211 GO_function GO:0004889 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004889 GO_function GO:0015276 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015276 GO_function GO:0015464 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015464 GO_function GO:0042166 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042166 GO_process GO:0001508 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001508 GO_process GO:0001666 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001666 GO_process GO:0006281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006281 GO_process GO:0006811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006811 GO_process GO:0006816 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006816 GO_process GO:0006979 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006979 GO_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GO_process GO:0007268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007268 GO_process GO:0007271 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007271 GO_process GO:0007274 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007274 GO_process GO:0007585 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007585 GO_process GO:0007626 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007626 GO_process GO:0014059 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014059 GO_process GO:0019233 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019233 GO_process GO:0035094 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035094 GO_process GO:0035095 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035095 GO_process GO:0035640 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035640 GO_process GO:0042113 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042113 GO_process GO:0042391 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042391 GO_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GO_process GO:0050890 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050890 GO_process GO:0051899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051899 GO_process GO:0060080 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060080 GO_process GO:0095500 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0095500 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0002376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002376 GOslim_process GO:0006259 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006259 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 Gene3D 1.20.120.370 http://www.cathdb.info/version/latest/superfamily/1.20.120.370 Gene3D 2.70.170.10 http://www.cathdb.info/version/latest/superfamily/2.70.170.10 GeneCards CHRNA4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CHRNA4 GeneID 1137 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=1137 GeneTree ENSGT00760000118930 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118930 HGNC HGNC:1958 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:1958 HOGENOM HOG000006756 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000006756&db=HOGENOM6 HOVERGEN HBG003756 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG003756&db=HOVERGEN HPA CAB034064 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB034064 InParanoid P43681 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P43681 IntAct P43681 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P43681* InterPro IPR002394 http://www.ebi.ac.uk/interpro/entry/IPR002394 InterPro IPR006029 http://www.ebi.ac.uk/interpro/entry/IPR006029 InterPro IPR006201 http://www.ebi.ac.uk/interpro/entry/IPR006201 InterPro IPR006202 http://www.ebi.ac.uk/interpro/entry/IPR006202 InterPro IPR018000 http://www.ebi.ac.uk/interpro/entry/IPR018000 InterPro IPR027361 http://www.ebi.ac.uk/interpro/entry/IPR027361 Jabion 1137 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=1137 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00807 http://www.genome.jp/dbget-bin/www_bget?H00807 KEGG_Gene hsa:1137 http://www.genome.jp/dbget-bin/www_bget?hsa:1137 KEGG_Orthology KO:K04806 http://www.genome.jp/dbget-bin/www_bget?KO:K04806 KEGG_Pathway ko04080 http://www.genome.jp/kegg-bin/show_pathway?ko04080 KEGG_Pathway ko04725 http://www.genome.jp/kegg-bin/show_pathway?ko04725 KEGG_Pathway ko05033 http://www.genome.jp/kegg-bin/show_pathway?ko05033 MIM 118504 http://www.ncbi.nlm.nih.gov/omim/118504 MIM 600513 http://www.ncbi.nlm.nih.gov/omim/600513 MINT MINT-3015931 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-3015931 OMA HMSSPGE http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=HMSSPGE Orphanet 98784 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=98784 OrthoDB EOG091G0R20 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0R20 PANTHER PTHR18945 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR18945 PDB 2GVT http://www.ebi.ac.uk/pdbe-srv/view/entry/2GVT PDB 2LLY http://www.ebi.ac.uk/pdbe-srv/view/entry/2LLY PDB 5KXI http://www.ebi.ac.uk/pdbe-srv/view/entry/5KXI PDBsum 2GVT http://www.ebi.ac.uk/pdbsum/2GVT PDBsum 2LLY http://www.ebi.ac.uk/pdbsum/2LLY PDBsum 5KXI http://www.ebi.ac.uk/pdbsum/5KXI PRINTS PR00252 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00252 PRINTS PR00254 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00254 PROSITE PS00236 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00236 PSORT swissprot:ACHA4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ACHA4_HUMAN PSORT-B swissprot:ACHA4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ACHA4_HUMAN PSORT2 swissprot:ACHA4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ACHA4_HUMAN Pfam PF02931 http://pfam.xfam.org/family/PF02931 Pfam PF02932 http://pfam.xfam.org/family/PF02932 PharmGKB PA26490 http://www.pharmgkb.org/do/serve?objId=PA26490&objCls=Gene Phobius swissprot:ACHA4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ACHA4_HUMAN PhylomeDB P43681 http://phylomedb.org/?seqid=P43681 ProteinModelPortal P43681 http://www.proteinmodelportal.org/query/uniprot/P43681 PubMed 10563623 http://www.ncbi.nlm.nih.gov/pubmed/10563623 PubMed 11780052 http://www.ncbi.nlm.nih.gov/pubmed/11780052 PubMed 14623738 http://www.ncbi.nlm.nih.gov/pubmed/14623738 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16120769 http://www.ncbi.nlm.nih.gov/pubmed/16120769 PubMed 22361591 http://www.ncbi.nlm.nih.gov/pubmed/22361591 PubMed 7550350 http://www.ncbi.nlm.nih.gov/pubmed/7550350 PubMed 7721089 http://www.ncbi.nlm.nih.gov/pubmed/7721089 PubMed 8833159 http://www.ncbi.nlm.nih.gov/pubmed/8833159 PubMed 8906617 http://www.ncbi.nlm.nih.gov/pubmed/8906617 PubMed 9009220 http://www.ncbi.nlm.nih.gov/pubmed/9009220 Reactome R-HSA-629587 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-629587 Reactome R-HSA-629594 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-629594 Reactome R-HSA-629597 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-629597 RefSeq NP_000735 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000735 RefSeq NP_001243502 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001243502 RefSeq XP_011526826 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011526826 SMR P43681 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P43681 STRING 9606.ENSP00000359285 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000359285&targetmode=cogs SUPFAM SSF63712 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF63712 SUPFAM SSF90112 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF90112 TCDB 1.A.9.1 http://www.tcdb.org/search/result.php?tc=1.A.9.1 TIGRFAMs TIGR00860 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00860 UCSC uc002yes http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002yes&org=rat UniGene Hs.10734 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.10734 UniProtKB ACHA4_HUMAN http://www.uniprot.org/uniprot/ACHA4_HUMAN UniProtKB-AC P43681 http://www.uniprot.org/uniprot/P43681 charge swissprot:ACHA4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ACHA4_HUMAN eggNOG ENOG410XQGR http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XQGR eggNOG KOG3645 http://eggnogapi.embl.de/nog_data/html/tree/KOG3645 epestfind swissprot:ACHA4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ACHA4_HUMAN garnier swissprot:ACHA4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ACHA4_HUMAN helixturnhelix swissprot:ACHA4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ACHA4_HUMAN hmoment swissprot:ACHA4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ACHA4_HUMAN iep swissprot:ACHA4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ACHA4_HUMAN inforesidue swissprot:ACHA4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ACHA4_HUMAN neXtProt NX_P43681 http://www.nextprot.org/db/entry/NX_P43681 octanol swissprot:ACHA4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ACHA4_HUMAN pepcoil swissprot:ACHA4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ACHA4_HUMAN pepdigest swissprot:ACHA4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ACHA4_HUMAN pepinfo swissprot:ACHA4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ACHA4_HUMAN pepnet swissprot:ACHA4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ACHA4_HUMAN pepstats swissprot:ACHA4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ACHA4_HUMAN pepwheel swissprot:ACHA4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ACHA4_HUMAN pepwindow swissprot:ACHA4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ACHA4_HUMAN sigcleave swissprot:ACHA4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ACHA4_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS GTR5_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P22732-1; Sequence=Displayed; Name=2; IsoId=P22732-2; Sequence=VSP_042031; # AltName GTR5_HUMAN Fructose transporter # AltName GTR5_HUMAN Glucose transporter type 5, small intestine # BioGrid 112409 11 # CCDS CCDS44054 -. [P22732-2] # CCDS CCDS99 -. [P22732-1] # CDD cd06174 MFS # ChiTaRS SLC2A5 human # ENZYME REGULATION The uptake of 2-deoxyglucose is inhibited by cytochalasin B. {ECO:0000269|PubMed 1695905}. # Ensembl ENST00000377414 ENSP00000366631; ENSG00000142583. [P22732-2] # Ensembl ENST00000377424 ENSP00000366641; ENSG00000142583. [P22732-1] # ExpressionAtlas P22732 baseline and differential # FUNCTION GTR5_HUMAN Functions as a fructose transporter that has only low activity with other monosaccharides (PubMed 8333543). Can mediate the uptake of 2-deoxyglucose, but with low efficiency (PubMed 1695905). Essential for fructose uptake in the small intestine. Plays a role in the regulation of salt uptake and blood pressure in response to dietary fructose. Required for the development of high blood pressure in response to high dietary fructose intake (By similarity). {ECO 0000250|UniProtKB Q9WV38, ECO 0000269|PubMed 1695905, ECO 0000269|PubMed 8333543}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IDA:UniProtKB. # GO_component GO:0016324 apical plasma membrane; ISS:UniProtKB. # GO_component GO:0042383 sarcolemma; ISS:UniProtKB. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0005353 fructose transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0005355 glucose transmembrane transporter activity; TAS:ProtInc. # GO_function GO:0070061 fructose binding; ISS:UniProtKB. # GO_process GO:0003044 regulation of systemic arterial blood pressure mediated by a chemical signal; ISS:UniProtKB. # GO_process GO:0005975 carbohydrate metabolic process; TAS:ProtInc. # GO_process GO:0008645 hexose transport; TAS:Reactome. # GO_process GO:0009750 response to fructose; ISS:UniProtKB. # GO_process GO:0015755 fructose transport; TAS:ProtInc. # GO_process GO:0015758 glucose transport; TAS:ProtInc. # GO_process GO:0071332 cellular response to fructose stimulus; ISS:UniProtKB. # GO_process GO:1990539 fructose import across plasma membrane; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0005975 carbohydrate metabolic process # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0055085 transmembrane transport # Genevisible P22732 HS # HGNC HGNC:11010 SLC2A5 # INDUCTION By forskolin in Caco-2 cells. {ECO:0000269|PubMed 8037665}. # IntAct P22732 3 # InterPro IPR002442 Fru_transpt_5 # InterPro IPR003663 Sugar/inositol_transpt # InterPro IPR005828 MFS_sugar_transport-like # InterPro IPR005829 Sugar_transporter_CS # InterPro IPR020846 MFS_dom # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02000 Transporters # KEGG_Brite ko02001 Solute carrier family # KEGG_Pathway ko04973 Carbohydrate digestion and absorption # MASS SPECTROMETRY Mass=54973.98; Method=MALDI; Range=1-501; Evidence={ECO:0000269|PubMed 11840567}; # MIM 138230 gene # Organism GTR5_HUMAN Homo sapiens (Human) # PDB 1YG1 Model; -; A=1-501 # PIR A36629 A36629 # PIR G02864 G02864 # PRINTS PR00171 SUGRTRNSPORT # PRINTS PR01194 GLUCTRSPORT5 # PROSITE PS00216 SUGAR_TRANSPORT_1 # PROSITE PS00217 SUGAR_TRANSPORT_2 # PROSITE PS50850 MFS # Pfam PF00083 Sugar_tr # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-189200 Hexose transport # Reactome R-HSA-428776 Class II GLUTs # Reactome R-HSA-6798695 Neutrophil degranulation # RecName GTR5_HUMAN Solute carrier family 2, facilitated glucose transporter member 5 # RefSeq NP_001129057 NM_001135585.1. [P22732-2] # RefSeq NP_001315548 NM_001328619.1. [P22732-1] # RefSeq NP_003030 NM_003039.2. [P22732-1] # RefSeq XP_005263548 XM_005263491.3. [P22732-1] # RefSeq XP_016857622 XM_017002133.1. [P22732-1] # RefSeq XP_016857623 XM_017002134.1. [P22732-1] # RefSeq XP_016857624 XM_017002135.1. [P22732-1] # RefSeq XP_016857625 XM_017002136.1. [P22732-1] # RefSeq XP_016857626 XM_017002137.1. [P22732-1] # RefSeq XP_016857627 XM_017002138.1. [P22732-1] # RefSeq XP_016857629 XM_017002140.1. [P22732-1] # RefSeq XP_016857630 XM_017002141.1. [P22732-1] # SEQUENCE CAUTION Sequence=AAB60641.1; Type=Erroneous gene model prediction; Evidence={ECO 0000305}; # SIMILARITY Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION GTR5_HUMAN Apical cell membrane {ECO 0000250|UniProtKB Q9WV38}; Multi-pass membrane protein {ECO 0000250|UniProtKB Q9WV38}. Cell membrane {ECO 0000269|PubMed 1695905, ECO 0000269|PubMed 7619085, ECO 0000269|PubMed 8333543}; Multi-pass membrane protein {ECO 0000250|UniProtKB Q9WV38}. Cell membrane, sarcolemma {ECO 0000250|UniProtKB P43427}. Note=Localized on the apical membrane of jejunum villi, but also on lateral plasma membranes of the villi. Transport to the cell membrane is dependent on RAB11A. {ECO 0000250|UniProtKB Q9WV38}. # SUPFAM SSF103473 SSF103473 # TCDB 2.A.1.1.13 the major facilitator superfamily (mfs) # TIGRFAMs TIGR00879 SP # TISSUE SPECIFICITY GTR5_HUMAN Detected in skeletal muscle, and in jejunum brush border membrane and basolateral membrane (at protein level) (PubMed 7619085). Expressed in small intestine, and at much lower levels in kidney, skeletal muscle, and adipose tissue. {ECO 0000269|PubMed 1695905, ECO 0000269|PubMed 7619085}. # UCSC uc001apo human. [P22732-1] # eggNOG COG0477 LUCA # eggNOG KOG0569 Eukaryota BLAST swissprot:GTR5_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:GTR5_HUMAN BioCyc ZFISH:ENSG00000142583-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000142583-MONOMER COXPRESdb 6518 http://coxpresdb.jp/data/gene/6518.shtml CleanEx HS_SLC2A5 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC2A5 DOI 10.1002/1615-9861(200202)2:2<212::AID-PROT212>3.0.CO http://dx.doi.org/10.1002/1615-9861(200202)2:2<212::AID-PROT212>3.0.CO DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1042/bj3010169 http://dx.doi.org/10.1042/bj3010169 DOI 10.1042/bj3090007 http://dx.doi.org/10.1042/bj3090007 DOI 10.1073/pnas.1210303109 http://dx.doi.org/10.1073/pnas.1210303109 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AK289849 http://www.ebi.ac.uk/ena/data/view/AK289849 EMBL AK290398 http://www.ebi.ac.uk/ena/data/view/AK290398 EMBL AL158048 http://www.ebi.ac.uk/ena/data/view/AL158048 EMBL AL158048 http://www.ebi.ac.uk/ena/data/view/AL158048 EMBL BC001692 http://www.ebi.ac.uk/ena/data/view/BC001692 EMBL BC001820 http://www.ebi.ac.uk/ena/data/view/BC001820 EMBL BC035878 http://www.ebi.ac.uk/ena/data/view/BC035878 EMBL CH471130 http://www.ebi.ac.uk/ena/data/view/CH471130 EMBL M55531 http://www.ebi.ac.uk/ena/data/view/M55531 EMBL U05344 http://www.ebi.ac.uk/ena/data/view/U05344 EMBL U11839 http://www.ebi.ac.uk/ena/data/view/U11839 EMBL U11840 http://www.ebi.ac.uk/ena/data/view/U11840 EMBL U11841 http://www.ebi.ac.uk/ena/data/view/U11841 EMBL U11842 http://www.ebi.ac.uk/ena/data/view/U11842 EMBL U11843 http://www.ebi.ac.uk/ena/data/view/U11843 Ensembl ENST00000377414 http://www.ensembl.org/id/ENST00000377414 Ensembl ENST00000377424 http://www.ensembl.org/id/ENST00000377424 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:0042383 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042383 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0005353 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005353 GO_function GO:0005355 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005355 GO_function GO:0070061 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070061 GO_process GO:0003044 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003044 GO_process GO:0005975 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005975 GO_process GO:0008645 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008645 GO_process GO:0009750 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009750 GO_process GO:0015755 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015755 GO_process GO:0015758 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015758 GO_process GO:0071332 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071332 GO_process GO:1990539 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1990539 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0005975 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005975 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC2A5 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC2A5 GeneID 6518 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6518 GeneTree ENSGT00760000119022 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119022 HGNC HGNC:11010 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11010 HOGENOM HOG000202871 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000202871&db=HOGENOM6 HOVERGEN HBG014816 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG014816&db=HOVERGEN HPA CAB026176 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB026176 HPA HPA005449 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA005449 InParanoid P22732 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P22732 IntAct P22732 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P22732* InterPro IPR002442 http://www.ebi.ac.uk/interpro/entry/IPR002442 InterPro IPR003663 http://www.ebi.ac.uk/interpro/entry/IPR003663 InterPro IPR005828 http://www.ebi.ac.uk/interpro/entry/IPR005828 InterPro IPR005829 http://www.ebi.ac.uk/interpro/entry/IPR005829 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 6518 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6518 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:6518 http://www.genome.jp/dbget-bin/www_bget?hsa:6518 KEGG_Orthology KO:K08143 http://www.genome.jp/dbget-bin/www_bget?KO:K08143 KEGG_Pathway ko04973 http://www.genome.jp/kegg-bin/show_pathway?ko04973 MIM 138230 http://www.ncbi.nlm.nih.gov/omim/138230 OMA WDSVDRE http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=WDSVDRE OrthoDB EOG091G0A9K http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0A9K PDB 1YG1 http://www.ebi.ac.uk/pdbe-srv/view/entry/1YG1 PDBsum 1YG1 http://www.ebi.ac.uk/pdbsum/1YG1 PRINTS PR00171 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00171 PRINTS PR01194 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01194 PROSITE PS00216 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00216 PROSITE PS00217 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00217 PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PSORT swissprot:GTR5_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:GTR5_HUMAN PSORT-B swissprot:GTR5_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:GTR5_HUMAN PSORT2 swissprot:GTR5_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:GTR5_HUMAN Pfam PF00083 http://pfam.xfam.org/family/PF00083 PharmGKB PA35880 http://www.pharmgkb.org/do/serve?objId=PA35880&objCls=Gene Phobius swissprot:GTR5_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:GTR5_HUMAN PhylomeDB P22732 http://phylomedb.org/?seqid=P22732 ProteinModelPortal P22732 http://www.proteinmodelportal.org/query/uniprot/P22732 PubMed 11840567 http://www.ncbi.nlm.nih.gov/pubmed/11840567 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 1695905 http://www.ncbi.nlm.nih.gov/pubmed/1695905 PubMed 22814378 http://www.ncbi.nlm.nih.gov/pubmed/22814378 PubMed 7619085 http://www.ncbi.nlm.nih.gov/pubmed/7619085 PubMed 8037665 http://www.ncbi.nlm.nih.gov/pubmed/8037665 PubMed 8333543 http://www.ncbi.nlm.nih.gov/pubmed/8333543 Reactome R-HSA-189200 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-189200 Reactome R-HSA-428776 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-428776 Reactome R-HSA-6798695 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6798695 RefSeq NP_001129057 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001129057 RefSeq NP_001315548 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001315548 RefSeq NP_003030 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_003030 RefSeq XP_005263548 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005263548 RefSeq XP_016857622 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016857622 RefSeq XP_016857623 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016857623 RefSeq XP_016857624 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016857624 RefSeq XP_016857625 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016857625 RefSeq XP_016857626 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016857626 RefSeq XP_016857627 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016857627 RefSeq XP_016857629 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016857629 RefSeq XP_016857630 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016857630 SMR P22732 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P22732 STRING 9606.ENSP00000366641 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000366641&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.1.1.13 http://www.tcdb.org/search/result.php?tc=2.A.1.1.13 TIGRFAMs TIGR00879 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00879 UCSC uc001apo http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001apo&org=rat UniGene Hs.530003 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.530003 UniProtKB GTR5_HUMAN http://www.uniprot.org/uniprot/GTR5_HUMAN UniProtKB-AC P22732 http://www.uniprot.org/uniprot/P22732 charge swissprot:GTR5_HUMAN http://rest.g-language.org/emboss/charge/swissprot:GTR5_HUMAN eggNOG COG0477 http://eggnogapi.embl.de/nog_data/html/tree/COG0477 eggNOG KOG0569 http://eggnogapi.embl.de/nog_data/html/tree/KOG0569 epestfind swissprot:GTR5_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:GTR5_HUMAN garnier swissprot:GTR5_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:GTR5_HUMAN helixturnhelix swissprot:GTR5_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:GTR5_HUMAN hmoment swissprot:GTR5_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:GTR5_HUMAN iep swissprot:GTR5_HUMAN http://rest.g-language.org/emboss/iep/swissprot:GTR5_HUMAN inforesidue swissprot:GTR5_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:GTR5_HUMAN neXtProt NX_P22732 http://www.nextprot.org/db/entry/NX_P22732 octanol swissprot:GTR5_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:GTR5_HUMAN pepcoil swissprot:GTR5_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:GTR5_HUMAN pepdigest swissprot:GTR5_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:GTR5_HUMAN pepinfo swissprot:GTR5_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:GTR5_HUMAN pepnet swissprot:GTR5_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:GTR5_HUMAN pepstats swissprot:GTR5_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:GTR5_HUMAN pepwheel swissprot:GTR5_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:GTR5_HUMAN pepwindow swissprot:GTR5_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:GTR5_HUMAN sigcleave swissprot:GTR5_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:GTR5_HUMAN ## Database ID URL or Descriptions # AltName CXA1_HUMAN Connexin-43 # AltName CXA1_HUMAN Gap junction 43 kDa heart protein # BioGrid 108964 41 # CAUTION CXA1_HUMAN PubMed 11741837 reported 2 mutations (Phe-11 and Ala-24) linked to non-syndromic autosomal recessive deafness (DFNBG). These mutations have subsequently been shown (PubMed 12457340) to involve the pseudogene of connexin-43 located on chromosome 5. {ECO 0000305|PubMed 12457340}. # CAUTION PubMed:7715640 reported a mutation Pro-364 linked to congenital heart diseases. PubMed 8873667 later shown that it is an artifact. {ECO:0000305}. # ChiTaRS GJA1 human # DISEASE CXA1_HUMAN Atrioventricular septal defect 3 (AVSD3) [MIM 600309] A congenital heart malformation characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. The complete form involves underdevelopment of the lower part of the atrial septum and the upper part of the ventricular septum; the valve itself is also shared. A less severe form, known as ostium primum atrial septal defect, is characterized by separate atrioventricular valvar orifices despite a common junction. {ECO 0000269|PubMed 11470490}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE CXA1_HUMAN Craniometaphyseal dysplasia, autosomal recessive (CMDR) [MIM 218400] An osteochondrodysplasia characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses. Sclerosis of the skull may lead to asymmetry of the mandible, as well as to cranial nerve compression, that may finally result in hearing loss and facial palsy. {ECO 0000269|PubMed 23951358}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE CXA1_HUMAN Erythrokeratodermia variabilis (EKV) [MIM 133200] A genodermatosis characterized by the appearance of two independent skin lesions transient figurate erythematous patches and hyperkeratosis that is usually localized but occasionally occurs in its generalized form. Clinical presentation varies significantly within a family and from one family to another. Palmoplantar keratoderma is present in around 50% of cases. {ECO 0000269|PubMed 25398053}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE CXA1_HUMAN Hallermann-Streiff syndrome (HSS) [MIM 234100] A disorder characterized by a typical skull shape (brachycephaly with frontal bossing), hypotrichosis, microphthalmia, cataracts, beaked nose, micrognathia, skin atrophy, dental anomalies and proportionate short stature. Mental retardation is present in a minority of cases. {ECO 0000269|PubMed 14974090}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE CXA1_HUMAN Hypoplastic left heart syndrome 1 (HLHS1) [MIM 241550] A syndrome due to defective development of the aorta proximal to the entrance of the ductus arteriosus, and hypoplasia of the left ventricle and mitral valve. As a result of the abnormal circulation, the ductus arteriosus and foramen ovale are patent and the right atrium, right ventricle, and pulmonary artery are enlarged. {ECO 0000269|PubMed 11470490}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE CXA1_HUMAN Oculodentodigital dysplasia (ODDD) [MIM 164200] A disease characterized by a typical facial appearance and variable involvement of the eyes, dentition, and fingers. Characteristic facial features include a narrow, pinched nose with hypoplastic alae nasi, prominent columella and thin anteverted nares together with a narrow nasal bridge, and prominent epicanthic folds giving the impression of hypertelorism. The teeth are usually small and carious. Typical eye findings include microphthalmia and microcornea. The characteristic digital malformation is complete syndactyly of the fourth and fifth fingers (syndactyly type III) but the third finger may be involved and associated camptodactyly is a common finding. Cardiac abnormalities are observed in rare instances. {ECO 0000269|PubMed 12457340, ECO 0000269|PubMed 14729836, ECO 0000269|PubMed 15108203, ECO 0000269|PubMed 15637728, ECO 0000269|PubMed 16219735, ECO 0000269|PubMed 16222672, ECO 0000269|PubMed 16378922, ECO 0000269|PubMed 16709485, ECO 0000269|PubMed 16813608, ECO 0000269|PubMed 16816024, ECO 0000269|PubMed 17509830, ECO 0000269|PubMed 18161618, ECO 0000269|PubMed 19338053, ECO 0000269|PubMed 21670345, ECO 0000269|PubMed 23550541, ECO 0000269|PubMed 24508941}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE CXA1_HUMAN Oculodentodigital dysplasia, autosomal recessive (ODDD- AR) [MIM 257850] A disease characterized by a typical facial appearance and variable involvement of the eyes, dentition, and fingers. Characteristic facial features include a narrow, pinched nose with hypoplastic alae nasi, prominent columella and thin anteverted nares together with a narrow nasal bridge, and prominent epicanthic folds giving the impression of hypertelorism. The teeth are usually small and carious. Typical eye findings include microphthalmia and microcornea. The characteristic digital malformation is complete syndactyly of the fourth and fifth fingers (syndactyly type III) but the third finger may be involved and associated camptodactyly is a common finding. Cardiac abnormalities are observed in rare instances. {ECO 0000269|PubMed 16816024}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE CXA1_HUMAN Palmoplantar keratoderma and congenital alopecia 1 (PPKCA1) [MIM 104100] A rare autosomal dominant disorder characterized by severe hyperkeratosis of the palms and soles, and congenital hypotrichosis or alopecia. Dystrophic nail changes occur in some patients. {ECO 0000269|PubMed 25168385}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE CXA1_HUMAN Syndactyly 3 (SDTY3) [MIM 186100] A form of syndactyly, a congenital anomaly of the hand or foot marked by persistence of the webbing between adjacent digits that are more or less completely attached. In SDTY3, there is usually complete and bilateral syndactyly between the fourth and fifth fingers. Usually it is soft tissue syndactyly but occasionally the distal phalanges are fused. The fifth finger is short with absent or rudimentary middle phalanx. The feet are not affected. {ECO 0000269|PubMed 14729836}. Note=The disease may be caused by mutations affecting the gene represented in this entry. # DrugBank DB01136 Carvedilol # Ensembl ENST00000282561 ENSP00000282561; ENSG00000152661 # FUNCTION CXA1_HUMAN Gap junction protein that acts as a regulator of bladder capacity. A gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell. May play a critical role in the physiology of hearing by participating in the recycling of potassium to the cochlear endolymph. Negative regulator of bladder functional capacity acts by enhancing intercellular electrical and chemical transmission, thus sensitizing bladder muscles to cholinergic neural stimuli and causing them to contract (By similarity). May play a role in cell growth inhibition through the regulation of NOV expression and localization. Plays an essential role in gap junction communication in the ventricles (By similarity). {ECO 0000250|UniProtKB P08050, ECO 0000250|UniProtKB P23242}. # GO_component GO:0000139 Golgi membrane; TAS:Reactome. # GO_component GO:0005739 mitochondrion; IDA:AgBase. # GO_component GO:0005741 mitochondrial outer membrane; IEA:Ensembl. # GO_component GO:0005764 lysosome; IEA:Ensembl. # GO_component GO:0005769 early endosome; IEA:Ensembl. # GO_component GO:0005771 multivesicular body; IEA:Ensembl. # GO_component GO:0005789 endoplasmic reticulum membrane; TAS:Reactome. # GO_component GO:0005794 Golgi apparatus; ISS:BHF-UCL. # GO_component GO:0005829 cytosol; IEA:Ensembl. # GO_component GO:0005882 intermediate filament; IEA:Ensembl. # GO_component GO:0005886 plasma membrane; ISS:UniProtKB. # GO_component GO:0005887 integral component of plasma membrane; TAS:UniProtKB. # GO_component GO:0005916 fascia adherens; IEA:Ensembl. # GO_component GO:0005921 gap junction; IDA:BHF-UCL. # GO_component GO:0005922 connexin complex; TAS:ProtInc. # GO_component GO:0005925 focal adhesion; IDA:UniProtKB. # GO_component GO:0014704 intercalated disc; IDA:BHF-UCL. # GO_component GO:0016324 apical plasma membrane; IEA:Ensembl. # GO_component GO:0016328 lateral plasma membrane; IEA:Ensembl. # GO_component GO:0030660 Golgi-associated vesicle membrane; TAS:Reactome. # GO_component GO:0043292 contractile fiber; IEA:Ensembl. # GO_component GO:0045121 membrane raft; ISS:BHF-UCL. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0004871 signal transducer activity; IMP:UniProtKB. # GO_function GO:0005243 gap junction channel activity; IDA:BHF-UCL. # GO_function GO:0015075 ion transmembrane transporter activity; IDA:BHF-UCL. # GO_function GO:0086075 gap junction channel activity involved in cardiac conduction electrical coupling; NAS:BHF-UCL. # GO_function GO:1903763 gap junction channel activity involved in cell communication by electrical coupling; IDA:BHF-UCL. # GO_process GO:0001649 osteoblast differentiation; IEA:Ensembl. # GO_process GO:0001701 in utero embryonic development; IEA:Ensembl. # GO_process GO:0001764 neuron migration; IEA:Ensembl. # GO_process GO:0001937 negative regulation of endothelial cell proliferation; IEA:Ensembl. # GO_process GO:0001947 heart looping; IEA:Ensembl. # GO_process GO:0002070 epithelial cell maturation; IEA:Ensembl. # GO_process GO:0002088 lens development in camera-type eye; IEA:Ensembl. # GO_process GO:0002544 chronic inflammatory response; IEA:Ensembl. # GO_process GO:0003104 positive regulation of glomerular filtration; IEA:Ensembl. # GO_process GO:0003158 endothelium development; IEA:Ensembl. # GO_process GO:0003294 atrial ventricular junction remodeling; IEA:Ensembl. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0006915 apoptotic process; IEA:Ensembl. # GO_process GO:0006936 muscle contraction; TAS:ProtInc. # GO_process GO:0007165 signal transduction; IDA:BHF-UCL. # GO_process GO:0007204 positive regulation of cytosolic calcium ion concentration; IEA:Ensembl. # GO_process GO:0007267 cell-cell signaling; IDA:BHF-UCL. # GO_process GO:0007507 heart development; TAS:ProtInc. # GO_process GO:0007512 adult heart development; IEA:Ensembl. # GO_process GO:0009268 response to pH; IEA:Ensembl. # GO_process GO:0009749 response to glucose; IEA:Ensembl. # GO_process GO:0010232 vascular transport; IEA:Ensembl. # GO_process GO:0010628 positive regulation of gene expression; IEA:Ensembl. # GO_process GO:0010629 negative regulation of gene expression; IEA:Ensembl. # GO_process GO:0010643 cell communication by chemical coupling; IEA:Ensembl. # GO_process GO:0010644 cell communication by electrical coupling; IDA:BHF-UCL. # GO_process GO:0010652 positive regulation of cell communication by chemical coupling; IEA:Ensembl. # GO_process GO:0015867 ATP transport; IEA:Ensembl. # GO_process GO:0016264 gap junction assembly; TAS:UniProtKB. # GO_process GO:0030308 negative regulation of cell growth; ISS:UniProtKB. # GO_process GO:0030500 regulation of bone mineralization; IEA:Ensembl. # GO_process GO:0032024 positive regulation of insulin secretion; IEA:Ensembl. # GO_process GO:0034220 ion transmembrane transport; IDA:BHF-UCL. # GO_process GO:0034405 response to fluid shear stress; IEA:Ensembl. # GO_process GO:0042733 embryonic digit morphogenesis; IEA:Ensembl. # GO_process GO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling; IMP:UniProtKB. # GO_process GO:0043403 skeletal muscle tissue regeneration; IEA:Ensembl. # GO_process GO:0043434 response to peptide hormone; IEA:Ensembl. # GO_process GO:0045669 positive regulation of osteoblast differentiation; IEA:Ensembl. # GO_process GO:0045732 positive regulation of protein catabolic process; IEA:Ensembl. # GO_process GO:0045844 positive regulation of striated muscle tissue development; IEA:Ensembl. # GO_process GO:0045907 positive regulation of vasoconstriction; IEA:Ensembl. # GO_process GO:0045909 positive regulation of vasodilation; IEA:Ensembl. # GO_process GO:0046850 regulation of bone remodeling; IEA:Ensembl. # GO_process GO:0048514 blood vessel morphogenesis; IEA:Ensembl. # GO_process GO:0048812 neuron projection morphogenesis; IEA:Ensembl. # GO_process GO:0051259 protein oligomerization; IEA:Ensembl. # GO_process GO:0051924 regulation of calcium ion transport; IEA:Ensembl. # GO_process GO:0060044 negative regulation of cardiac muscle cell proliferation; IEA:Ensembl. # GO_process GO:0060156 milk ejection; IEA:Ensembl. # GO_process GO:0060307 regulation of ventricular cardiac muscle cell membrane repolarization; IEA:Ensembl. # GO_process GO:0060371 regulation of atrial cardiac muscle cell membrane depolarization; IEA:Ensembl. # GO_process GO:0060373 regulation of ventricular cardiac muscle cell membrane depolarization; IEA:Ensembl. # GO_process GO:0061045 negative regulation of wound healing; IEA:Ensembl. # GO_process GO:0071260 cellular response to mechanical stimulus; IEA:Ensembl. # GO_process GO:0086014 atrial cardiac muscle cell action potential; TAS:BHF-UCL. # GO_process GO:0086064 cell communication by electrical coupling involved in cardiac conduction; NAS:BHF-UCL. # GO_process GO:2000279 negative regulation of DNA biosynthetic process; IEA:Ensembl. # GO_process GO:2000810 regulation of bicellular tight junction assembly; IEA:Ensembl. # GO_process GO:2000987 positive regulation of behavioral fear response; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005739 mitochondrion # GOslim_component GO:0005764 lysosome # GOslim_component GO:0005768 endosome # GOslim_component GO:0005794 Golgi apparatus # GOslim_component GO:0005829 cytosol # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0003013 circulatory system process # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # GOslim_process GO:0008219 cell death # GOslim_process GO:0009790 embryo development # GOslim_process GO:0021700 developmental maturation # GOslim_process GO:0022607 cellular component assembly # GOslim_process GO:0030154 cell differentiation # GOslim_process GO:0034330 cell junction organization # GOslim_process GO:0040007 growth # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0048870 cell motility # GOslim_process GO:0055085 transmembrane transport # Genevisible P17302 HS # HGNC HGNC:4274 GJA1 # INTERACTION CXA1_HUMAN Q02487-1 DSC2; NbExp=2; IntAct=EBI-1103439, EBI-6900677; Q07157 TJP1; NbExp=3; IntAct=EBI-1103439, EBI-79553; # IntAct P17302 11 # InterPro IPR000500 Connexin # InterPro IPR002261 Connexin43 # InterPro IPR013092 Connexin_N # InterPro IPR013124 Connexin43_C # InterPro IPR017990 Connexin_CS # InterPro IPR019570 Connexin_CCC # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Disease H00449 [Skeletal dysplasia] Oculodentodigital dysplasia # KEGG_Disease H00547 [Developmental disorder; Cardiovascular disease] Atrioventricular canal defect # KEGG_Disease H00605 [Nervous system disease; Nervous system disease] Deafness, autosomal recessive # KEGG_Disease H01095 [Developmental disorder] Syndactyly # KEGG_Disease H01272 [Developmental disorder; Cardiovascular disease] Hypoplastic left heart syndrome (HLHS) # KEGG_Pathway ko04540 Gap junction # KEGG_Pathway ko05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC) # MIM 104100 phenotype # MIM 121014 gene # MIM 133200 phenotype # MIM 164200 phenotype # MIM 186100 phenotype # MIM 218400 phenotype # MIM 234100 phenotype # MIM 241550 phenotype # MIM 257850 phenotype # MIM 600309 phenotype # Organism CXA1_HUMAN Homo sapiens (Human) # Orphanet 1522 Craniometaphyseal dysplasia # Orphanet 2248 Hypoplastic left heart syndrome # Orphanet 2710 Oculodentodigital dysplasia # Orphanet 90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB # Orphanet 93404 Syndactyly type 3 # PANTHER PTHR11984 PTHR11984 # PDB 2LL2 NMR; -; A=234-259 # PIR A35853 A35853 # PRINTS PR00206 CONNEXIN # PRINTS PR01132 CONNEXINA1 # PROSITE PS00407 CONNEXINS_1 # PROSITE PS00408 CONNEXINS_2 # PTM CXA1_HUMAN Phosphorylated at Ser-368 by PRKCG; phosphorylation induces disassembly of gap junction plaques and inhibition of gap junction activity (By similarity). Phosphorylation at Ser-325, Ser-328 and Ser-330 by CK1 modulates gap junction assembly. Phosphorylation at Ser-368 by PRKCD triggers its internalization into small vesicles leading to proteasome-mediated degradation (By similarity). {ECO 0000250|UniProtKB P08050, ECO 0000250|UniProtKB Q6TYA7, ECO 0000269|PubMed 12270943, ECO 0000269|PubMed 14702389, ECO 0000269|PubMed 15605363}. # PTM CXA1_HUMAN S-nitrosylation at Cys-271 is enriched at the muscle endothelial gap junction in arteries, it augments channel permeability and may regulate of smooth muscle cell to endothelial cell communication. # PTM CXA1_HUMAN Sumoylated with SUMO1, SUMO2 and SUMO3, which may regulate the level of functional Cx43 gap junctions at the plasma membrane. May be desumoylated by SENP1 or SENP2. {ECO 0000269|PubMed 22411987}. # Pfam PF00029 Connexin # Pfam PF03508 Connexin43 # Proteomes UP000005640 Chromosome 6 # Reactome R-HSA-190704 Oligomerization of connexins into connexons # Reactome R-HSA-190827 Transport of connexins along the secretory pathway # Reactome R-HSA-190840 Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane # Reactome R-HSA-190861 Gap junction assembly # Reactome R-HSA-190873 Gap junction degradation # Reactome R-HSA-191647 c-src mediated regulation of Cx43 function and closure of gap junctions # Reactome R-HSA-196025 Formation of annular gap junctions # RecName CXA1_HUMAN Gap junction alpha-1 protein # RefSeq NP_000156 NM_000165.4 # SIMILARITY Belongs to the connexin family. Alpha-type (group II) subfamily. {ECO 0000305}. # SMART SM00037 CNX # SMART SM01089 Connexin_CCC # SUBCELLULAR LOCATION CXA1_HUMAN Cell membrane {ECO 0000269|PubMed 22411987}; Multi-pass membrane protein {ECO 0000255}. Cell junction, gap junction {ECO 0000269|PubMed 22411987}. Endoplasmic reticulum {ECO 0000250|UniProtKB P23242}. Note=Localizes at the intercalated disk (ICD) in cardiomyocytes and the proper localization at ICD is dependent on TMEM65. {ECO 0000250|UniProtKB P23242}. # SUBUNIT CXA1_HUMAN A connexon is composed of a hexamer of connexins. Interacts (via C-terminus) with TJP1 (By similarity). Interacts (via C-terminus) with SRC (via SH3 domain) (By similarity). Interacts (not ubiquitinated) with UBQLN4 (via UBA domain) (By similarity). Interacts with SGSM3 and CNST (By similarity). Interacts with RIC1/CIP150. Interacts with CSNK1D. Interacts with NOV (PubMed 15181016, PubMed 15213231). Interacts with TMEM65 (By similarity). {ECO 0000250|UniProtKB P23242, ECO 0000269|PubMed 12270943, ECO 0000269|PubMed 15181016, ECO 0000269|PubMed 15213231, ECO 0000269|PubMed 16112082}. # TISSUE SPECIFICITY Expressed in the heart and fetal cochlea. {ECO:0000269|PubMed 11741837}. # UCSC uc003pyr human # eggNOG ENOG410IF97 Eukaryota # eggNOG ENOG4110JTW LUCA BLAST swissprot:CXA1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CXA1_HUMAN BioCyc ZFISH:ENSG00000152661-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000152661-MONOMER COXPRESdb 2697 http://coxpresdb.jp/data/gene/2697.shtml CleanEx HS_GJA1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_GJA1 DOI 10.1001/archopht.123.10.1422 http://dx.doi.org/10.1001/archopht.123.10.1422 DOI 10.1001/archophthalmol.2011.113 http://dx.doi.org/10.1001/archophthalmol.2011.113 DOI 10.1002/ajmg.a.20614 http://dx.doi.org/10.1002/ajmg.a.20614 DOI 10.1002/ajmg.a.30554 http://dx.doi.org/10.1002/ajmg.a.30554 DOI 10.1002/ajmg.a.30925 http://dx.doi.org/10.1002/ajmg.a.30925 DOI 10.1002/humu.20958 http://dx.doi.org/10.1002/humu.20958 DOI 10.1002/humu.9220 http://dx.doi.org/10.1002/humu.9220 DOI 10.1002/mc.20072 http://dx.doi.org/10.1002/mc.20072 DOI 10.1016/0888-7543(91)90507-B http://dx.doi.org/10.1016/0888-7543(91)90507-B DOI 10.1016/S0027-5107(01)00160-9 http://dx.doi.org/10.1016/S0027-5107(01)00160-9 DOI 10.1016/j.bbrc.2005.08.019 http://dx.doi.org/10.1016/j.bbrc.2005.08.019 DOI 10.1016/j.ejmg.2005.05.003 http://dx.doi.org/10.1016/j.ejmg.2005.05.003 DOI 10.1016/j.gene.2014.01.066 http://dx.doi.org/10.1016/j.gene.2014.01.066 DOI 10.1016/j.ijom.2007.03.004 http://dx.doi.org/10.1016/j.ijom.2007.03.004 DOI 10.1038/jid.2014.485 http://dx.doi.org/10.1038/jid.2014.485 DOI 10.1038/nature02055 http://dx.doi.org/10.1038/nature02055 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1053/euhj.1999.1718 http://dx.doi.org/10.1053/euhj.1999.1718 DOI 10.1056/NEJM199505183322002 http://dx.doi.org/10.1056/NEJM199505183322002 DOI 10.1074/jbc.273.3.1519 http://dx.doi.org/10.1074/jbc.273.3.1519 DOI 10.1074/jbc.M111.281832 http://dx.doi.org/10.1074/jbc.M111.281832 DOI 10.1074/jbc.M209427200 http://dx.doi.org/10.1074/jbc.M209427200 DOI 10.1074/jbc.M403952200 http://dx.doi.org/10.1074/jbc.M403952200 DOI 10.1074/jbc.M404073200 http://dx.doi.org/10.1074/jbc.M404073200 DOI 10.1080/13816810701538620 http://dx.doi.org/10.1080/13816810701538620 DOI 10.1083/jcb.111.2.589 http://dx.doi.org/10.1083/jcb.111.2.589 DOI 10.1086/346090 http://dx.doi.org/10.1086/346090 DOI 10.1093/hmg/10.25.2945 http://dx.doi.org/10.1093/hmg/10.25.2945 DOI 10.1093/hmg/ddu442 http://dx.doi.org/10.1093/hmg/ddu442 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/cge.12158 http://dx.doi.org/10.1111/cge.12158 DOI 10.1111/j.1399-0004.2006.00631.x http://dx.doi.org/10.1111/j.1399-0004.2006.00631.x DOI 10.1126/scisignal.2001570 http://dx.doi.org/10.1126/scisignal.2001570 DOI 10.1136/jmg.2003.012005 http://dx.doi.org/10.1136/jmg.2003.012005 DOI 10.1136/jmg.2005.037655 http://dx.doi.org/10.1136/jmg.2005.037655 DOI 10.1161/01.CIR.94.8.1909 http://dx.doi.org/10.1161/01.CIR.94.8.1909 DOI 10.1161/01.CIR.97.1.117 http://dx.doi.org/10.1161/01.CIR.97.1.117 DOI 10.1161/01.RES.86.7.723 http://dx.doi.org/10.1161/01.RES.86.7.723 DOI 10.1242/jcs.00889 http://dx.doi.org/10.1242/jcs.00889 DOI 10.1371/journal.pone.0073576 http://dx.doi.org/10.1371/journal.pone.0073576 DrugBank DB01136 http://www.drugbank.ca/drugs/DB01136 EMBL AF151980 http://www.ebi.ac.uk/ena/data/view/AF151980 EMBL AK312324 http://www.ebi.ac.uk/ena/data/view/AK312324 EMBL AL139098 http://www.ebi.ac.uk/ena/data/view/AL139098 EMBL BC026329 http://www.ebi.ac.uk/ena/data/view/BC026329 EMBL CH471051 http://www.ebi.ac.uk/ena/data/view/CH471051 EMBL CR541660 http://www.ebi.ac.uk/ena/data/view/CR541660 EMBL M65188 http://www.ebi.ac.uk/ena/data/view/M65188 EMBL X52947 http://www.ebi.ac.uk/ena/data/view/X52947 Ensembl ENST00000282561 http://www.ensembl.org/id/ENST00000282561 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000139 GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005741 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005741 GO_component GO:0005764 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005764 GO_component GO:0005769 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005769 GO_component GO:0005771 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005771 GO_component GO:0005789 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005789 GO_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0005882 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005882 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0005916 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005916 GO_component GO:0005921 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005921 GO_component GO:0005922 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005922 GO_component GO:0005925 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005925 GO_component GO:0014704 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014704 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:0016328 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016328 GO_component GO:0030660 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030660 GO_component GO:0043292 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043292 GO_component GO:0045121 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045121 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GO_function GO:0005243 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005243 GO_function GO:0015075 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015075 GO_function GO:0086075 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086075 GO_function GO:1903763 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903763 GO_process GO:0001649 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001649 GO_process GO:0001701 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001701 GO_process GO:0001764 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001764 GO_process GO:0001937 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001937 GO_process GO:0001947 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001947 GO_process GO:0002070 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002070 GO_process GO:0002088 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002088 GO_process GO:0002544 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002544 GO_process GO:0003104 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003104 GO_process GO:0003158 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003158 GO_process GO:0003294 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003294 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0006915 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006915 GO_process GO:0006936 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006936 GO_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GO_process GO:0007204 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007204 GO_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GO_process GO:0007507 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007507 GO_process GO:0007512 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007512 GO_process GO:0009268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009268 GO_process GO:0009749 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009749 GO_process GO:0010232 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010232 GO_process GO:0010628 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010628 GO_process GO:0010629 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010629 GO_process GO:0010643 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010643 GO_process GO:0010644 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010644 GO_process GO:0010652 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010652 GO_process GO:0015867 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015867 GO_process GO:0016264 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016264 GO_process GO:0030308 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030308 GO_process GO:0030500 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030500 GO_process GO:0032024 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032024 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0034405 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034405 GO_process GO:0042733 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042733 GO_process GO:0043123 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043123 GO_process GO:0043403 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043403 GO_process GO:0043434 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043434 GO_process GO:0045669 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045669 GO_process GO:0045732 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045732 GO_process GO:0045844 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045844 GO_process GO:0045907 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045907 GO_process GO:0045909 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045909 GO_process GO:0046850 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046850 GO_process GO:0048514 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048514 GO_process GO:0048812 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048812 GO_process GO:0051259 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051259 GO_process GO:0051924 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051924 GO_process GO:0060044 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060044 GO_process GO:0060156 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060156 GO_process GO:0060307 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060307 GO_process GO:0060371 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060371 GO_process GO:0060373 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060373 GO_process GO:0061045 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061045 GO_process GO:0071260 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071260 GO_process GO:0086014 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086014 GO_process GO:0086064 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086064 GO_process GO:2000279 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000279 GO_process GO:2000810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000810 GO_process GO:2000987 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000987 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_component GO:0005764 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005764 GOslim_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GOslim_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0003013 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003013 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0008219 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008219 GOslim_process GO:0009790 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009790 GOslim_process GO:0021700 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021700 GOslim_process GO:0022607 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022607 GOslim_process GO:0030154 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030154 GOslim_process GO:0034330 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034330 GOslim_process GO:0040007 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0040007 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0048870 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048870 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards GJA1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=GJA1 GeneID 2697 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=2697 GeneTree ENSGT00840000129674 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00840000129674 HGNC HGNC:4274 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:4274 HOGENOM HOG000231127 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231127&db=HOGENOM6 HOVERGEN HBG009576 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG009576&db=HOVERGEN HPA CAB010753 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB010753 HPA HPA035097 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA035097 InParanoid P17302 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P17302 IntAct P17302 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P17302* InterPro IPR000500 http://www.ebi.ac.uk/interpro/entry/IPR000500 InterPro IPR002261 http://www.ebi.ac.uk/interpro/entry/IPR002261 InterPro IPR013092 http://www.ebi.ac.uk/interpro/entry/IPR013092 InterPro IPR013124 http://www.ebi.ac.uk/interpro/entry/IPR013124 InterPro IPR017990 http://www.ebi.ac.uk/interpro/entry/IPR017990 InterPro IPR019570 http://www.ebi.ac.uk/interpro/entry/IPR019570 Jabion 2697 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=2697 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Disease H00449 http://www.genome.jp/dbget-bin/www_bget?H00449 KEGG_Disease H00547 http://www.genome.jp/dbget-bin/www_bget?H00547 KEGG_Disease H00605 http://www.genome.jp/dbget-bin/www_bget?H00605 KEGG_Disease H01095 http://www.genome.jp/dbget-bin/www_bget?H01095 KEGG_Disease H01272 http://www.genome.jp/dbget-bin/www_bget?H01272 KEGG_Gene hsa:2697 http://www.genome.jp/dbget-bin/www_bget?hsa:2697 KEGG_Orthology KO:K07372 http://www.genome.jp/dbget-bin/www_bget?KO:K07372 KEGG_Pathway ko04540 http://www.genome.jp/kegg-bin/show_pathway?ko04540 KEGG_Pathway ko05412 http://www.genome.jp/kegg-bin/show_pathway?ko05412 MIM 104100 http://www.ncbi.nlm.nih.gov/omim/104100 MIM 121014 http://www.ncbi.nlm.nih.gov/omim/121014 MIM 133200 http://www.ncbi.nlm.nih.gov/omim/133200 MIM 164200 http://www.ncbi.nlm.nih.gov/omim/164200 MIM 186100 http://www.ncbi.nlm.nih.gov/omim/186100 MIM 218400 http://www.ncbi.nlm.nih.gov/omim/218400 MIM 234100 http://www.ncbi.nlm.nih.gov/omim/234100 MIM 241550 http://www.ncbi.nlm.nih.gov/omim/241550 MIM 257850 http://www.ncbi.nlm.nih.gov/omim/257850 MIM 600309 http://www.ncbi.nlm.nih.gov/omim/600309 MINT MINT-147603 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-147603 OMA GANVDMH http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=GANVDMH Orphanet 1522 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1522 Orphanet 2248 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=2248 Orphanet 2710 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=2710 Orphanet 90636 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=90636 Orphanet 93404 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=93404 OrthoDB EOG091G0FKH http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0FKH PANTHER PTHR11984 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11984 PDB 2LL2 http://www.ebi.ac.uk/pdbe-srv/view/entry/2LL2 PDBsum 2LL2 http://www.ebi.ac.uk/pdbsum/2LL2 PRINTS PR00206 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00206 PRINTS PR01132 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01132 PROSITE PS00407 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00407 PROSITE PS00408 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00408 PSORT swissprot:CXA1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CXA1_HUMAN PSORT-B swissprot:CXA1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CXA1_HUMAN PSORT2 swissprot:CXA1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CXA1_HUMAN Pfam PF00029 http://pfam.xfam.org/family/PF00029 Pfam PF03508 http://pfam.xfam.org/family/PF03508 PharmGKB PA28685 http://www.pharmgkb.org/do/serve?objId=PA28685&objCls=Gene Phobius swissprot:CXA1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CXA1_HUMAN PhylomeDB P17302 http://phylomedb.org/?seqid=P17302 ProteinModelPortal P17302 http://www.proteinmodelportal.org/query/uniprot/P17302 PubMed 10581143 http://www.ncbi.nlm.nih.gov/pubmed/10581143 PubMed 10764404 http://www.ncbi.nlm.nih.gov/pubmed/10764404 PubMed 11470490 http://www.ncbi.nlm.nih.gov/pubmed/11470490 PubMed 11741837 http://www.ncbi.nlm.nih.gov/pubmed/11741837 PubMed 12270943 http://www.ncbi.nlm.nih.gov/pubmed/12270943 PubMed 12457340 http://www.ncbi.nlm.nih.gov/pubmed/12457340 PubMed 14574404 http://www.ncbi.nlm.nih.gov/pubmed/14574404 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 14702389 http://www.ncbi.nlm.nih.gov/pubmed/14702389 PubMed 14729836 http://www.ncbi.nlm.nih.gov/pubmed/14729836 PubMed 14974090 http://www.ncbi.nlm.nih.gov/pubmed/14974090 PubMed 15108203 http://www.ncbi.nlm.nih.gov/pubmed/15108203 PubMed 15181016 http://www.ncbi.nlm.nih.gov/pubmed/15181016 PubMed 15213231 http://www.ncbi.nlm.nih.gov/pubmed/15213231 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15605363 http://www.ncbi.nlm.nih.gov/pubmed/15605363 PubMed 15637728 http://www.ncbi.nlm.nih.gov/pubmed/15637728 PubMed 15757815 http://www.ncbi.nlm.nih.gov/pubmed/15757815 PubMed 15978203 http://www.ncbi.nlm.nih.gov/pubmed/15978203 PubMed 16112082 http://www.ncbi.nlm.nih.gov/pubmed/16112082 PubMed 16219735 http://www.ncbi.nlm.nih.gov/pubmed/16219735 PubMed 16222672 http://www.ncbi.nlm.nih.gov/pubmed/16222672 PubMed 16378922 http://www.ncbi.nlm.nih.gov/pubmed/16378922 PubMed 1646158 http://www.ncbi.nlm.nih.gov/pubmed/1646158 PubMed 16709485 http://www.ncbi.nlm.nih.gov/pubmed/16709485 PubMed 16813608 http://www.ncbi.nlm.nih.gov/pubmed/16813608 PubMed 16816024 http://www.ncbi.nlm.nih.gov/pubmed/16816024 PubMed 1696265 http://www.ncbi.nlm.nih.gov/pubmed/1696265 PubMed 17509830 http://www.ncbi.nlm.nih.gov/pubmed/17509830 PubMed 18161618 http://www.ncbi.nlm.nih.gov/pubmed/18161618 PubMed 19338053 http://www.ncbi.nlm.nih.gov/pubmed/19338053 PubMed 21406692 http://www.ncbi.nlm.nih.gov/pubmed/21406692 PubMed 21670345 http://www.ncbi.nlm.nih.gov/pubmed/21670345 PubMed 22411987 http://www.ncbi.nlm.nih.gov/pubmed/22411987 PubMed 23550541 http://www.ncbi.nlm.nih.gov/pubmed/23550541 PubMed 23951358 http://www.ncbi.nlm.nih.gov/pubmed/23951358 PubMed 24508941 http://www.ncbi.nlm.nih.gov/pubmed/24508941 PubMed 25168385 http://www.ncbi.nlm.nih.gov/pubmed/25168385 PubMed 25398053 http://www.ncbi.nlm.nih.gov/pubmed/25398053 PubMed 7715640 http://www.ncbi.nlm.nih.gov/pubmed/7715640 PubMed 8873667 http://www.ncbi.nlm.nih.gov/pubmed/8873667 PubMed 9155619 http://www.ncbi.nlm.nih.gov/pubmed/9155619 PubMed 9430691 http://www.ncbi.nlm.nih.gov/pubmed/9430691 PubMed 9443444 http://www.ncbi.nlm.nih.gov/pubmed/9443444 Reactome R-HSA-190704 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-190704 Reactome R-HSA-190827 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-190827 Reactome R-HSA-190840 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-190840 Reactome R-HSA-190861 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-190861 Reactome R-HSA-190873 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-190873 Reactome R-HSA-191647 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-191647 Reactome R-HSA-196025 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-196025 RefSeq NP_000156 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000156 SMART SM00037 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00037 SMART SM01089 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM01089 SMR P17302 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P17302 STRING 9606.ENSP00000282561 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000282561&targetmode=cogs UCSC uc003pyr http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003pyr&org=rat UniGene Hs.700699 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.700699 UniGene Hs.74471 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.74471 UniProtKB CXA1_HUMAN http://www.uniprot.org/uniprot/CXA1_HUMAN UniProtKB-AC P17302 http://www.uniprot.org/uniprot/P17302 charge swissprot:CXA1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CXA1_HUMAN eggNOG ENOG410IF97 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IF97 eggNOG ENOG4110JTW http://eggnogapi.embl.de/nog_data/html/tree/ENOG4110JTW epestfind swissprot:CXA1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CXA1_HUMAN garnier swissprot:CXA1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CXA1_HUMAN helixturnhelix swissprot:CXA1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CXA1_HUMAN hmoment swissprot:CXA1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CXA1_HUMAN iep swissprot:CXA1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CXA1_HUMAN inforesidue swissprot:CXA1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CXA1_HUMAN neXtProt NX_P17302 http://www.nextprot.org/db/entry/NX_P17302 octanol swissprot:CXA1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CXA1_HUMAN pepcoil swissprot:CXA1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CXA1_HUMAN pepdigest swissprot:CXA1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CXA1_HUMAN pepinfo swissprot:CXA1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CXA1_HUMAN pepnet swissprot:CXA1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CXA1_HUMAN pepstats swissprot:CXA1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CXA1_HUMAN pepwheel swissprot:CXA1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CXA1_HUMAN pepwindow swissprot:CXA1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CXA1_HUMAN sigcleave swissprot:CXA1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CXA1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS CMC2_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9UJS0-1; Sequence=Displayed; Name=2; IsoId=Q9UJS0-2; Sequence=VSP_043747; # AltName CMC2_HUMAN Citrin # AltName CMC2_HUMAN Mitochondrial aspartate glutamate carrier 2 # AltName CMC2_HUMAN Solute carrier family 25 member 13 # BioGrid 115467 44 # CCDS CCDS55130 -. [Q9UJS0-2] # CCDS CCDS5645 -. [Q9UJS0-1] # ChiTaRS SLC25A13 human # DISEASE CMC2_HUMAN Cholestasis, neonatal intrahepatic, caused by citrin deficiency (NICCD) [MIM 605814] A form of citrullinemia type 2 with neonatal onset, characterized by suppression of the bile flow, hepatic fibrosis, low birth weight, growth retardation, hypoproteinemia, variable liver dysfunction. Neonatal intrahepatic cholestasis due to citrin deficiency is generally not severe and symptoms disappear by one year of age with an appropriate diet. Years or even decades later, however, some individuals develop the characteristic features of citrullinemia type 2 with neuropsychiatric symptoms. {ECO 0000269|PubMed 11793471}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE CMC2_HUMAN Citrullinemia 2 (CTLN2) [MIM 603471] A form of citrullinemia, an autosomal recessive disease characterized primarily by elevated serum and urine citrulline levels. Ammonia intoxication is another manifestation. Citrullinemia type 2 is characterized by neuropsychiatric symptoms including abnormal behaviors, loss of memory, seizures and coma. Death can result from brain edema. Onset is sudden and usually between the ages of 20 and 50 years. {ECO 0000269|PubMed 10369257, ECO 0000269|PubMed 10610724}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DrugBank DB00128 L-Aspartic Acid # Ensembl ENST00000265631 ENSP00000265631; ENSG00000004864. [Q9UJS0-1] # Ensembl ENST00000416240 ENSP00000400101; ENSG00000004864. [Q9UJS0-2] # ExpressionAtlas Q9UJS0 baseline and differential # FUNCTION CMC2_HUMAN Catalyzes the calcium-dependent exchange of cytoplasmic glutamate with mitochondrial aspartate across the mitochondrial inner membrane. May have a function in the urea cycle. {ECO 0000269|PubMed 11566871}. # GO_component GO:0005739 mitochondrion; IDA:UniProtKB. # GO_component GO:0005743 mitochondrial inner membrane; ISS:UniProtKB. # GO_component GO:0005887 integral component of plasma membrane; NAS:UniProtKB. # GO_function GO:0005215 transporter activity; NAS:UniProtKB. # GO_function GO:0005313 L-glutamate transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0005509 calcium ion binding; IDA:UniProtKB. # GO_function GO:0015172 acidic amino acid transmembrane transporter activity; TAS:Reactome. # GO_function GO:0015183 L-aspartate transmembrane transporter activity; IDA:UniProtKB. # GO_process GO:0006094 gluconeogenesis; TAS:Reactome. # GO_process GO:0006754 ATP biosynthetic process; IDA:UniProtKB. # GO_process GO:0006810 transport; NAS:UniProtKB. # GO_process GO:0015810 aspartate transport; IDA:UniProtKB. # GO_process GO:0015813 L-glutamate transport; IDA:UniProtKB. # GO_process GO:0043490 malate-aspartate shuttle; IDA:UniProtKB. # GO_process GO:0045333 cellular respiration; IDA:UniProtKB. # GO_process GO:0051592 response to calcium ion; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005739 mitochondrion # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0005975 carbohydrate metabolic process # GOslim_process GO:0006091 generation of precursor metabolites and energy # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0044281 small molecule metabolic process # Gene3D 1.10.238.10 -; 2. # Gene3D 1.50.40.10 -; 1. # Genevisible Q9UJS0 HS # HGNC HGNC:10983 SLC25A13 # IntAct Q9UJS0 49 # InterPro IPR002048 EF_hand_dom # InterPro IPR002067 Mit_carrier # InterPro IPR011992 EF-hand-dom_pair # InterPro IPR018108 Mitochondrial_sb/sol_carrier # InterPro IPR023395 Mt_carrier_dom # InterPro IPR029658 Aralar2 # KEGG_Brite ko02001 Solute carrier family # KEGG_Disease H00185 [Inherited metabolic disease; Nervous system disease] Citrullinemia (CTLN) # KEGG_Disease H01398:[Inherited metabolic disease] Citrullinemia type II [DS H00185] # MIM 603471 phenotype # MIM 603859 gene # MIM 605814 phenotype # MISCELLANEOUS CMC2_HUMAN Binds calcium. # Organism CMC2_HUMAN Homo sapiens (Human) # Orphanet 247585 Citrullinemia type II # Orphanet 247598 Neonatal intrahepatic cholestasis due to citrin deficiency # PANTHER PTHR24089:SF265 PTHR24089:SF265 # PDB 4P5W X-ray; 2.40 A; A/B=2-319, A/B=612-675 # PRINTS PR00926 MITOCARRIER # PROSITE PS50222 EF_HAND_2; 2 # PROSITE PS50920 SOLCAR; 3 # Pfam PF00153 Mito_carr; 3 # Proteomes UP000005640 Chromosome 7 # Reactome R-HSA-1268020 Mitochondrial protein import # Reactome R-HSA-70263 Gluconeogenesis # RecName CMC2_HUMAN Calcium-binding mitochondrial carrier protein Aralar2 # RefSeq NP_001153682 NM_001160210.1. [Q9UJS0-2] # RefSeq NP_055066 NM_014251.2. [Q9UJS0-1] # SEQUENCE CAUTION Sequence=AAB67049.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=AAB70112.1; Type=Erroneous gene model prediction; Evidence={ECO 0000305}; # SIMILARITY Belongs to the mitochondrial carrier (TC 2.A.29) family. {ECO 0000305}. # SIMILARITY Contains 3 Solcar repeats. {ECO:0000255|PROSITE- ProRule PRU00282}. # SIMILARITY Contains 4 EF-hand domains. {ECO:0000255|PROSITE- ProRule PRU00448}. # SUBCELLULAR LOCATION CMC2_HUMAN Mitochondrion inner membrane {ECO 0000269|PubMed 10642534}; Multi-pass membrane protein {ECO 0000269|PubMed 10642534}. # SUPFAM SSF103506 SSF103506 # SUPFAM SSF47473 SSF47473; 2 # TCDB 2.A.29.14 the mitochondrial carrier (mc) family # TISSUE SPECIFICITY CMC2_HUMAN High levels in liver and low levels in kidney, pancreas, placenta, heart and brain. {ECO 0000269|PubMed 10369257, ECO 0000269|PubMed 10642534}. # UCSC uc003uof human. [Q9UJS0-1] # eggNOG ENOG410XNRM LUCA # eggNOG KOG0751 Eukaryota BLAST swissprot:CMC2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CMC2_HUMAN BioCyc ZFISH:ENSG00000004864-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000004864-MONOMER COXPRESdb 10165 http://coxpresdb.jp/data/gene/10165.shtml CleanEx HS_SLC25A13 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC25A13 DOI 10.1002/humu.10022 http://dx.doi.org/10.1002/humu.10022 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1006/geno.1999.6006 http://dx.doi.org/10.1006/geno.1999.6006 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/9667 http://dx.doi.org/10.1038/9667 DOI 10.1038/nature01782 http://dx.doi.org/10.1038/nature01782 DOI 10.1042/0264-6021:3450725 http://dx.doi.org/10.1042/0264-6021:3450725 DOI 10.1073/pnas.1210303109 http://dx.doi.org/10.1073/pnas.1210303109 DOI 10.1074/mcp.O113.027870 http://dx.doi.org/10.1074/mcp.O113.027870 DOI 10.1093/emboj/20.18.5060 http://dx.doi.org/10.1093/emboj/20.18.5060 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DrugBank DB00128 http://www.drugbank.ca/drugs/DB00128 EMBL AC002450 http://www.ebi.ac.uk/ena/data/view/AC002450 EMBL AC002540 http://www.ebi.ac.uk/ena/data/view/AC002540 EMBL AC004458 http://www.ebi.ac.uk/ena/data/view/AC004458 EMBL AC084368 http://www.ebi.ac.uk/ena/data/view/AC084368 EMBL AC096775 http://www.ebi.ac.uk/ena/data/view/AC096775 EMBL AF118838 http://www.ebi.ac.uk/ena/data/view/AF118838 EMBL AH009104 http://www.ebi.ac.uk/ena/data/view/AH009104 EMBL AJ496569 http://www.ebi.ac.uk/ena/data/view/AJ496569 EMBL BC006566 http://www.ebi.ac.uk/ena/data/view/BC006566 EMBL CH471091 http://www.ebi.ac.uk/ena/data/view/CH471091 EMBL Y17571 http://www.ebi.ac.uk/ena/data/view/Y17571 Ensembl ENST00000265631 http://www.ensembl.org/id/ENST00000265631 Ensembl ENST00000416240 http://www.ensembl.org/id/ENST00000416240 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0005215 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005215 GO_function GO:0005313 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005313 GO_function GO:0005509 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005509 GO_function GO:0015172 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015172 GO_function GO:0015183 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015183 GO_process GO:0006094 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006094 GO_process GO:0006754 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006754 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0015810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015810 GO_process GO:0015813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015813 GO_process GO:0043490 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043490 GO_process GO:0045333 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045333 GO_process GO:0051592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051592 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0005975 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005975 GOslim_process GO:0006091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006091 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 Gene3D 1.10.238.10 http://www.cathdb.info/version/latest/superfamily/1.10.238.10 Gene3D 1.50.40.10 http://www.cathdb.info/version/latest/superfamily/1.50.40.10 GeneCards SLC25A13 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC25A13 GeneID 10165 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=10165 GeneTree ENSGT00530000062944 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000062944 H-InvDB HIX0167840 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0167840 HGNC HGNC:10983 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10983 HOGENOM HOG000180633 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000180633&db=HOGENOM6 HOVERGEN HBG005350 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG005350&db=HOVERGEN HPA HPA018997 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA018997 InParanoid Q9UJS0 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9UJS0 IntAct Q9UJS0 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9UJS0* InterPro IPR002048 http://www.ebi.ac.uk/interpro/entry/IPR002048 InterPro IPR002067 http://www.ebi.ac.uk/interpro/entry/IPR002067 InterPro IPR011992 http://www.ebi.ac.uk/interpro/entry/IPR011992 InterPro IPR018108 http://www.ebi.ac.uk/interpro/entry/IPR018108 InterPro IPR023395 http://www.ebi.ac.uk/interpro/entry/IPR023395 InterPro IPR029658 http://www.ebi.ac.uk/interpro/entry/IPR029658 Jabion 10165 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=10165 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Disease H00185 http://www.genome.jp/dbget-bin/www_bget?H00185 KEGG_Disease H01398 http://www.genome.jp/dbget-bin/www_bget?H01398 KEGG_Gene hsa:10165 http://www.genome.jp/dbget-bin/www_bget?hsa:10165 KEGG_Orthology KO:K15105 http://www.genome.jp/dbget-bin/www_bget?KO:K15105 MIM 603471 http://www.ncbi.nlm.nih.gov/omim/603471 MIM 603859 http://www.ncbi.nlm.nih.gov/omim/603859 MIM 605814 http://www.ncbi.nlm.nih.gov/omim/605814 MINT MINT-3081120 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-3081120 OMA CDEFEAV http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=CDEFEAV Orphanet 247585 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=247585 Orphanet 247598 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=247598 OrthoDB EOG091G08GT http://cegg.unige.ch/orthodb/results?searchtext=EOG091G08GT PANTHER PTHR24089:SF265 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24089:SF265 PDB 4P5W http://www.ebi.ac.uk/pdbe-srv/view/entry/4P5W PDBsum 4P5W http://www.ebi.ac.uk/pdbsum/4P5W PRINTS PR00926 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00926 PROSITE PS50222 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50222 PROSITE PS50920 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50920 PSORT swissprot:CMC2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CMC2_HUMAN PSORT-B swissprot:CMC2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CMC2_HUMAN PSORT2 swissprot:CMC2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CMC2_HUMAN Pfam PF00153 http://pfam.xfam.org/family/PF00153 PharmGKB PA35859 http://www.pharmgkb.org/do/serve?objId=PA35859&objCls=Gene Phobius swissprot:CMC2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CMC2_HUMAN PhylomeDB Q9UJS0 http://phylomedb.org/?seqid=Q9UJS0 ProteinModelPortal Q9UJS0 http://www.proteinmodelportal.org/query/uniprot/Q9UJS0 PubMed 10369257 http://www.ncbi.nlm.nih.gov/pubmed/10369257 PubMed 10610724 http://www.ncbi.nlm.nih.gov/pubmed/10610724 PubMed 10642534 http://www.ncbi.nlm.nih.gov/pubmed/10642534 PubMed 11566871 http://www.ncbi.nlm.nih.gov/pubmed/11566871 PubMed 11793471 http://www.ncbi.nlm.nih.gov/pubmed/11793471 PubMed 12853948 http://www.ncbi.nlm.nih.gov/pubmed/12853948 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 22814378 http://www.ncbi.nlm.nih.gov/pubmed/22814378 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 24129315 http://www.ncbi.nlm.nih.gov/pubmed/24129315 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 Reactome R-HSA-1268020 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1268020 Reactome R-HSA-70263 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-70263 RefSeq NP_001153682 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001153682 RefSeq NP_055066 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_055066 SMR Q9UJS0 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9UJS0 STRING 9606.ENSP00000400101 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000400101&targetmode=cogs SUPFAM SSF103506 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103506 SUPFAM SSF47473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF47473 TCDB 2.A.29.14 http://www.tcdb.org/search/result.php?tc=2.A.29.14 UCSC uc003uof http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003uof&org=rat UniGene Hs.489190 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.489190 UniProtKB CMC2_HUMAN http://www.uniprot.org/uniprot/CMC2_HUMAN UniProtKB-AC Q9UJS0 http://www.uniprot.org/uniprot/Q9UJS0 charge swissprot:CMC2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CMC2_HUMAN eggNOG ENOG410XNRM http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XNRM eggNOG KOG0751 http://eggnogapi.embl.de/nog_data/html/tree/KOG0751 epestfind swissprot:CMC2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CMC2_HUMAN garnier swissprot:CMC2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CMC2_HUMAN helixturnhelix swissprot:CMC2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CMC2_HUMAN hmoment swissprot:CMC2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CMC2_HUMAN iep swissprot:CMC2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CMC2_HUMAN inforesidue swissprot:CMC2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CMC2_HUMAN neXtProt NX_Q9UJS0 http://www.nextprot.org/db/entry/NX_Q9UJS0 octanol swissprot:CMC2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CMC2_HUMAN pepcoil swissprot:CMC2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CMC2_HUMAN pepdigest swissprot:CMC2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CMC2_HUMAN pepinfo swissprot:CMC2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CMC2_HUMAN pepnet swissprot:CMC2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CMC2_HUMAN pepstats swissprot:CMC2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CMC2_HUMAN pepwheel swissprot:CMC2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CMC2_HUMAN pepwindow swissprot:CMC2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CMC2_HUMAN sigcleave swissprot:CMC2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CMC2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S2610_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8NG04-1; Sequence=Displayed; Name=2; IsoId=Q8NG04-2; Sequence=VSP_034748, VSP_034749; Note=No experimental confirmation available.; # CAUTION According to PubMed:12759755, it is a transcribed pseudogene. They however do not provide experimental evidences to support this affirmation. {ECO 0000305}. # CCDS CCDS8949 -. [Q8NG04-1] # Ensembl ENST00000320442 ENSP00000320217; ENSG00000135502. [Q8NG04-1] # ExpressionAtlas Q8NG04 baseline and differential # FUNCTION S2610_HUMAN Chloride/bicarbonate exchanger. {ECO 0000250}. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_function GO:0005254 chloride channel activity; IBA:GO_Central. # GO_function GO:0008271 secondary active sulfate transmembrane transporter activity; IEA:InterPro. # GO_function GO:0015106 bicarbonate transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015116 sulfate transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0019531 oxalate transmembrane transporter activity; IBA:GO_Central. # GO_function S2610_HUMAN GO 0015301 anion anion antiporter activity; IBA GO_Central. # GO_process GO:0015701 bicarbonate transport; IBA:GO_Central. # GO_process GO:0042391 regulation of membrane potential; IBA:GO_Central. # GO_process GO:0051453 regulation of intracellular pH; IBA:GO_Central. # GO_process GO:1902476 chloride transmembrane transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 3.30.750.24 -; 1. # Genevisible Q8NG04 HS # HGNC HGNC:14470 SLC26A10 # InterPro IPR001902 SLC26A/SulP_fam # InterPro IPR002645 STAS_dom # InterPro IPR011547 SLC26A/SulP_dom # InterPro IPR030324 SLC26A10 # KEGG_Brite ko02001 Solute carrier family # Organism S2610_HUMAN Homo sapiens (Human) # PANTHER PTHR11814 PTHR11814 # PANTHER PTHR11814:SF99 PTHR11814:SF99 # PROSITE PS50801 STAS # Pfam PF00916 Sulfate_transp # Pfam PF01740 STAS # Proteomes UP000005640 Chromosome 12 # RecName S2610_HUMAN Solute carrier family 26 member 10 # RefSeq NP_597996 NM_133489.2. [Q8NG04-1] # SEQUENCE CAUTION Sequence=BAC85515.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the SLC26A/SulP transporter (TC 2.A.53) family. {ECO 0000305}. # SIMILARITY Contains 1 STAS domain. {ECO:0000255|PROSITE- ProRule PRU00198}. # SUBCELLULAR LOCATION S2610_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # SUPFAM SSF52091 SSF52091 # TCDB 2.A.53.2.13 the sulfate permease (sulp) family # UCSC uc001spe human. [Q8NG04-1] # eggNOG COG0659 LUCA # eggNOG KOG0236 Eukaryota BLAST swissprot:S2610_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S2610_HUMAN BioCyc ZFISH:ENSG00000135502-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000135502-MONOMER COXPRESdb 65012 http://coxpresdb.jp/data/gene/65012.shtml CleanEx HS_SLC26A10 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC26A10 DOI 10.1006/geno.2000.6355 http://dx.doi.org/10.1006/geno.2000.6355 DOI 10.1007/s00424-003-1090-3 http://dx.doi.org/10.1007/s00424-003-1090-3 DOI 10.1038/nature04569 http://dx.doi.org/10.1038/nature04569 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1126/science.1133427 http://dx.doi.org/10.1126/science.1133427 EMBL AC025165 http://www.ebi.ac.uk/ena/data/view/AC025165 EMBL AF331523 http://www.ebi.ac.uk/ena/data/view/AF331523 EMBL AK122981 http://www.ebi.ac.uk/ena/data/view/AK122981 Ensembl ENST00000320442 http://www.ensembl.org/id/ENST00000320442 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0005254 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005254 GO_function GO:0008271 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008271 GO_function GO:0015106 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015106 GO_function GO:0015116 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015116 GO_function GO:0015301 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015301 GO_function GO:0019531 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019531 GO_process GO:0015701 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015701 GO_process GO:0042391 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042391 GO_process GO:0051453 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051453 GO_process GO:1902476 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902476 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 3.30.750.24 http://www.cathdb.info/version/latest/superfamily/3.30.750.24 GeneCards SLC26A10 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC26A10 GeneID 65012 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=65012 GeneTree ENSGT00760000119026 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119026 H-InvDB HIX0037121 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0037121 H-InvDB HIX0079408 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0079408 HGNC HGNC:14470 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:14470 HOGENOM HOG000006546 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000006546&db=HOGENOM6 HOVERGEN HBG105688 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG105688&db=HOVERGEN HPA HPA044719 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA044719 InParanoid Q8NG04 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8NG04 InterPro IPR001902 http://www.ebi.ac.uk/interpro/entry/IPR001902 InterPro IPR002645 http://www.ebi.ac.uk/interpro/entry/IPR002645 InterPro IPR011547 http://www.ebi.ac.uk/interpro/entry/IPR011547 InterPro IPR030324 http://www.ebi.ac.uk/interpro/entry/IPR030324 Jabion 65012 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=65012 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:65012 http://www.genome.jp/dbget-bin/www_bget?hsa:65012 KEGG_Orthology KO:K14707 http://www.genome.jp/dbget-bin/www_bget?KO:K14707 OrthoDB EOG091G07RT http://cegg.unige.ch/orthodb/results?searchtext=EOG091G07RT PANTHER PTHR11814 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11814 PANTHER PTHR11814:SF99 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11814:SF99 PROSITE PS50801 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50801 PSORT swissprot:S2610_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S2610_HUMAN PSORT-B swissprot:S2610_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S2610_HUMAN PSORT2 swissprot:S2610_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S2610_HUMAN Pfam PF00916 http://pfam.xfam.org/family/PF00916 Pfam PF01740 http://pfam.xfam.org/family/PF01740 PharmGKB PA37887 http://www.pharmgkb.org/do/serve?objId=PA37887&objCls=Gene Phobius swissprot:S2610_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S2610_HUMAN PhylomeDB Q8NG04 http://phylomedb.org/?seqid=Q8NG04 ProteinModelPortal Q8NG04 http://www.proteinmodelportal.org/query/uniprot/Q8NG04 PubMed 11087667 http://www.ncbi.nlm.nih.gov/pubmed/11087667 PubMed 12759755 http://www.ncbi.nlm.nih.gov/pubmed/12759755 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 16541075 http://www.ncbi.nlm.nih.gov/pubmed/16541075 PubMed 16959974 http://www.ncbi.nlm.nih.gov/pubmed/16959974 RefSeq NP_597996 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_597996 SMR Q8NG04 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q8NG04 STRING 9606.ENSP00000320217 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000320217&targetmode=cogs SUPFAM SSF52091 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52091 TCDB 2.A.53.2.13 http://www.tcdb.org/search/result.php?tc=2.A.53.2.13 UCSC uc001spe http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001spe&org=rat UniGene Hs.727726 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.727726 UniProtKB S2610_HUMAN http://www.uniprot.org/uniprot/S2610_HUMAN UniProtKB-AC Q8NG04 http://www.uniprot.org/uniprot/Q8NG04 charge swissprot:S2610_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S2610_HUMAN eggNOG COG0659 http://eggnogapi.embl.de/nog_data/html/tree/COG0659 eggNOG KOG0236 http://eggnogapi.embl.de/nog_data/html/tree/KOG0236 epestfind swissprot:S2610_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S2610_HUMAN garnier swissprot:S2610_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S2610_HUMAN helixturnhelix swissprot:S2610_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S2610_HUMAN hmoment swissprot:S2610_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S2610_HUMAN iep swissprot:S2610_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S2610_HUMAN inforesidue swissprot:S2610_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S2610_HUMAN neXtProt NX_Q8NG04 http://www.nextprot.org/db/entry/NX_Q8NG04 octanol swissprot:S2610_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S2610_HUMAN pepcoil swissprot:S2610_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S2610_HUMAN pepdigest swissprot:S2610_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S2610_HUMAN pepinfo swissprot:S2610_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S2610_HUMAN pepnet swissprot:S2610_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S2610_HUMAN pepstats swissprot:S2610_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S2610_HUMAN pepwheel swissprot:S2610_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S2610_HUMAN pepwindow swissprot:S2610_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S2610_HUMAN sigcleave swissprot:S2610_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S2610_HUMAN ## Database ID URL or Descriptions # AltName PK1L3_HUMAN PC1-like 3 protein # AltName PK1L3_HUMAN Polycystin-1L3 # CAUTION PK1L3_HUMAN PKD1L3 and PKD2L1 have been defined as sour taste receptor in gustatory cells based on a number of indirect evidences in mouse. Some data confirm this hypothesis in human in 2 patients with sour ageusia that are unresponsive to sour stimuli, but show normal responses to bitter, sweet, and salty stimuli, expression of PKD1L3 and PKD2L1 is absent in the anterior part of the tongue (PubMed 19812697). However, a number of experiments have recently shown that the sour taste receptor activity is probably indirect. {ECO 0000305|PubMed 19812697}. # ENZYME REGULATION PK1L3_HUMAN The calcium channel is gated following an off- response property by acid gated open after the removal of acid stimulus, but not during acid application. {ECO 0000269|PubMed 18535624, ECO 0000269|PubMed 19464260, ECO 0000269|PubMed 22420714}. # Ensembl ENST00000620267 ENSP00000480090; ENSG00000277481 # FUNCTION PK1L3_HUMAN Component of a calcium channel. May act as a sour taste receptor by forming a calcium channel with PKD1L3 in gustatory cells; however, its contribution to sour taste perception is unclear in vivo and may be indirect. {ECO 0000269|PubMed 12782129, ECO 0000269|PubMed 19812697, ECO 0000269|PubMed 23212381}. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0009986 cell surface; IEA:Ensembl. # GO_component GO:0034703 cation channel complex; ISS:BHF-UCL. # GO_component GO:0043235 receptor complex; ISS:BHF-UCL. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0005262 calcium channel activity; IBA:GO_Central. # GO_function GO:0030246 carbohydrate binding; IEA:UniProtKB-KW. # GO_process GO:0001581 detection of chemical stimulus involved in sensory perception of sour taste; ISS:BHF-UCL. # GO_process GO:0001822 kidney development; IEA:InterPro. # GO_process GO:0006812 cation transport; ISS:BHF-UCL. # GO_process GO:0050915 sensory perception of sour taste; IMP:UniProtKB. # GO_process GO:0050982 detection of mechanical stimulus; IBA:GO_Central. # GO_process GO:0071468 cellular response to acidic pH; ISS:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0050877 neurological system process # Gene3D 2.60.60.20 -; 1. # Gene3D 3.10.100.10 -; 1. # HGNC HGNC:21716 PKD1L3 # InterPro IPR000203 GPS # InterPro IPR000434 PC1 # InterPro IPR001024 PLAT/LH2_dom # InterPro IPR001304 C-type_lectin-like # InterPro IPR013122 PKD1_2_channel # InterPro IPR016186 C-type_lectin-like/link # InterPro IPR016187 CTDL_fold # KEGG_Brite ko04040 Ion channels # MIM 607895 gene # Organism PK1L3_HUMAN Homo sapiens (Human) # PRINTS PR00500 POLYCYSTIN1 # PROSITE PS50095 PLAT # PROSITE PS50221 GPS # Pfam PF00059 Lectin_C # Pfam PF01477 PLAT # Pfam PF01825 GPS # Pfam PF08016 PKD_channel # Proteomes UP000005640 Chromosome 16 # RecName PK1L3_HUMAN Polycystic kidney disease protein 1-like 3 # RefSeq NP_853514 NM_181536.1 # SIMILARITY Belongs to the polycystin family. {ECO 0000305}. # SIMILARITY Contains 1 C-type lectin domain. {ECO 0000305}. # SIMILARITY Contains 1 GPS domain. {ECO:0000255|PROSITE- ProRule PRU00098}. # SIMILARITY Contains 1 PLAT domain. {ECO:0000255|PROSITE- ProRule PRU00152}. # SMART SM00303 GPS # SMART SM00308 LH2 # SUBCELLULAR LOCATION PK1L3_HUMAN Cell membrane {ECO 0000269|PubMed 18535624, ECO 0000269|PubMed 20538909, ECO 0000269|PubMed 23212381}; Multi- pass membrane protein {ECO 0000269|PubMed 18535624, ECO 0000269|PubMed 20538909, ECO 0000269|PubMed 23212381}. Note=Interaction with PKD2L1 is required for localization to the cell membrane. # SUBUNIT PK1L3_HUMAN Calcium channels are probably composed of 3 subunit of PKD2L1 and 1 subunit of PKD1L3. # SUPFAM SSF49723 SSF49723 # SUPFAM SSF56436 SSF56436 # TCDB 1.A.5.1 the polycystin cation channel (pcc) family # TISSUE SPECIFICITY Highly expressed in placenta, weakly in heart and lung. {ECO:0000269|PubMed 12782129}. # UCSC uc059wxm human BLAST swissprot:PK1L3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:PK1L3_HUMAN BioCyc ZFISH:G66-32457-MONOMER http://biocyc.org/getid?id=ZFISH:G66-32457-MONOMER COXPRESdb 342372 http://coxpresdb.jp/data/gene/342372.shtml CleanEx HS_PKD1L3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_PKD1L3 DOI 10.1016/S0888-7543(03)00048-X http://dx.doi.org/10.1016/S0888-7543(03)00048-X DOI 10.1016/j.bbrc.2009.05.069 http://dx.doi.org/10.1016/j.bbrc.2009.05.069 DOI 10.1038/embor.2008.89 http://dx.doi.org/10.1038/embor.2008.89 DOI 10.1038/ncomms2257 http://dx.doi.org/10.1038/ncomms2257 DOI 10.1096/fj.10-162925 http://dx.doi.org/10.1096/fj.10-162925 DOI 10.1111/j.1742-4658.2012.08566.x http://dx.doi.org/10.1111/j.1742-4658.2012.08566.x DOI 10.1371/journal.pone.0007347 http://dx.doi.org/10.1371/journal.pone.0007347 EMBL AY164485 http://www.ebi.ac.uk/ena/data/view/AY164485 Ensembl ENST00000620267 http://www.ensembl.org/id/ENST00000620267 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0009986 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009986 GO_component GO:0034703 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034703 GO_component GO:0043235 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043235 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0005262 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005262 GO_function GO:0030246 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030246 GO_process GO:0001581 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001581 GO_process GO:0001822 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001822 GO_process GO:0006812 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006812 GO_process GO:0050915 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050915 GO_process GO:0050982 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050982 GO_process GO:0071468 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071468 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 Gene3D 2.60.60.20 http://www.cathdb.info/version/latest/superfamily/2.60.60.20 Gene3D 3.10.100.10 http://www.cathdb.info/version/latest/superfamily/3.10.100.10 GeneCards PKD1L3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=PKD1L3 GeneID 342372 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=342372 GeneTree ENSGT00700000104221 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00700000104221 H-InvDB HIX0038832 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0038832 HGNC HGNC:21716 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:21716 HOGENOM HOG000230856 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000230856&db=HOGENOM6 HOVERGEN HBG066396 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG066396&db=HOVERGEN InParanoid Q7Z443 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q7Z443 IntAct Q7Z443 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q7Z443* InterPro IPR000203 http://www.ebi.ac.uk/interpro/entry/IPR000203 InterPro IPR000434 http://www.ebi.ac.uk/interpro/entry/IPR000434 InterPro IPR001024 http://www.ebi.ac.uk/interpro/entry/IPR001024 InterPro IPR001304 http://www.ebi.ac.uk/interpro/entry/IPR001304 InterPro IPR013122 http://www.ebi.ac.uk/interpro/entry/IPR013122 InterPro IPR016186 http://www.ebi.ac.uk/interpro/entry/IPR016186 InterPro IPR016187 http://www.ebi.ac.uk/interpro/entry/IPR016187 Jabion 342372 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=342372 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:342372 http://www.genome.jp/dbget-bin/www_bget?hsa:342372 KEGG_Orthology KO:K04989 http://www.genome.jp/dbget-bin/www_bget?KO:K04989 MIM 607895 http://www.ncbi.nlm.nih.gov/omim/607895 MINT MINT-6743423 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-6743423 OMA AKCSSSV http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=AKCSSSV OrthoDB EOG091G004D http://cegg.unige.ch/orthodb/results?searchtext=EOG091G004D PRINTS PR00500 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00500 PROSITE PS50095 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50095 PROSITE PS50221 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50221 PSORT swissprot:PK1L3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:PK1L3_HUMAN PSORT-B swissprot:PK1L3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:PK1L3_HUMAN PSORT2 swissprot:PK1L3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:PK1L3_HUMAN Pfam PF00059 http://pfam.xfam.org/family/PF00059 Pfam PF01477 http://pfam.xfam.org/family/PF01477 Pfam PF01825 http://pfam.xfam.org/family/PF01825 Pfam PF08016 http://pfam.xfam.org/family/PF08016 Phobius swissprot:PK1L3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:PK1L3_HUMAN PhylomeDB Q7Z443 http://phylomedb.org/?seqid=Q7Z443 ProteinModelPortal Q7Z443 http://www.proteinmodelportal.org/query/uniprot/Q7Z443 PubMed 12782129 http://www.ncbi.nlm.nih.gov/pubmed/12782129 PubMed 18535624 http://www.ncbi.nlm.nih.gov/pubmed/18535624 PubMed 19464260 http://www.ncbi.nlm.nih.gov/pubmed/19464260 PubMed 19812697 http://www.ncbi.nlm.nih.gov/pubmed/19812697 PubMed 20538909 http://www.ncbi.nlm.nih.gov/pubmed/20538909 PubMed 22420714 http://www.ncbi.nlm.nih.gov/pubmed/22420714 PubMed 23212381 http://www.ncbi.nlm.nih.gov/pubmed/23212381 RefSeq NP_853514 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_853514 SMART SM00303 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00303 SMART SM00308 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00308 SMR Q7Z443 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q7Z443 SUPFAM SSF49723 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF49723 SUPFAM SSF56436 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF56436 TCDB 1.A.5.1 http://www.tcdb.org/search/result.php?tc=1.A.5.1 UCSC uc059wxm http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc059wxm&org=rat UniGene Hs.675286 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.675286 UniProtKB PK1L3_HUMAN http://www.uniprot.org/uniprot/PK1L3_HUMAN UniProtKB-AC Q7Z443 http://www.uniprot.org/uniprot/Q7Z443 charge swissprot:PK1L3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:PK1L3_HUMAN epestfind swissprot:PK1L3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:PK1L3_HUMAN garnier swissprot:PK1L3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:PK1L3_HUMAN helixturnhelix swissprot:PK1L3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:PK1L3_HUMAN hmoment swissprot:PK1L3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:PK1L3_HUMAN iep swissprot:PK1L3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:PK1L3_HUMAN inforesidue swissprot:PK1L3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:PK1L3_HUMAN neXtProt NX_Q7Z443 http://www.nextprot.org/db/entry/NX_Q7Z443 octanol swissprot:PK1L3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:PK1L3_HUMAN pepcoil swissprot:PK1L3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:PK1L3_HUMAN pepdigest swissprot:PK1L3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:PK1L3_HUMAN pepinfo swissprot:PK1L3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:PK1L3_HUMAN pepnet swissprot:PK1L3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:PK1L3_HUMAN pepstats swissprot:PK1L3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:PK1L3_HUMAN pepwheel swissprot:PK1L3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:PK1L3_HUMAN pepwindow swissprot:PK1L3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:PK1L3_HUMAN sigcleave swissprot:PK1L3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:PK1L3_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS SC6A8_HUMAN Event=Alternative splicing; Named isoforms=4; Name=1; Synonyms=CRT1; IsoId=P48029-1; Sequence=Displayed; Name=2; Synonyms=CRT2, SLC6A8B; IsoId=P48029-2; Sequence=VSP_043917, VSP_043918, VSP_043919, VSP_043920; Name=3; Synonyms=SLC6A8C; IsoId=P48029-3; Sequence=VSP_043916; Name=4; IsoId=P48029-4; Sequence=VSP_046316; Note=No experimental confirmation available.; # AltName SC6A8_HUMAN Solute carrier family 6 member 8 # BioGrid 112426 10 # CCDS CCDS14726 -. [P48029-1] # CCDS CCDS48190 -. [P48029-4] # DISEASE SC6A8_HUMAN Cerebral creatine deficiency syndrome 1 (CCDS1) [MIM 300352] An X-linked disorder of creatine transport characterized by mental retardation, severe speech delay, behavioral abnormalities, and seizures. Carrier females may show mild neuropsychologic impairment. {ECO 0000269|PubMed 11898126, ECO 0000269|PubMed 12210795, ECO 0000269|PubMed 15154114, ECO 0000269|PubMed 17101918, ECO 0000269|PubMed 17465020, ECO 0000269|PubMed 23660394, ECO 0000269|PubMed 24123876, ECO 0000269|PubMed 25861866}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DrugBank DB00148 Creatine # Ensembl ENST00000253122 ENSP00000253122; ENSG00000130821. [P48029-1] # Ensembl ENST00000430077 ENSP00000403041; ENSG00000130821. [P48029-4] # ExpressionAtlas P48029 baseline and differential # FUNCTION SC6A8_HUMAN Required for the uptake of creatine in muscles and brain. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0016021 integral component of membrane; TAS:ProtInc. # GO_function GO:0005308 creatine transmembrane transporter activity; NAS:UniProtKB. # GO_function SC6A8_HUMAN GO 0005309 creatine sodium symporter activity; TAS Reactome. # GO_function SC6A8_HUMAN GO 0005328 neurotransmitter sodium symporter activity; IEA InterPro. # GO_process GO:0006600 creatine metabolic process; TAS:Reactome. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0006936 muscle contraction; TAS:ProtInc. # GO_process GO:0015881 creatine transport; IMP:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006520 cellular amino acid metabolic process # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # Genevisible P48029 HS # HGNC HGNC:11055 SLC6A8 # IntAct P48029 4 # InterPro IPR000175 Na/ntran_symport # InterPro IPR002984 Na/ntran_symport_creatine # KEGG_Brite ko02001 Solute carrier family # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00480 [Congenital disorder; Mental retardation] Non-syndromic X-linked mental retardation # KEGG_Disease H00577 [Congenital disorder; Mental retardation; Epilepsy] Rolandic epilepsy # KEGG_Disease H00849 [Inherited metabolic disease; Mental retardation] X-linked creatine deficiency syndrome (XL-CDS) # MIM 300036 gene # MIM 300352 phenotype # Organism SC6A8_HUMAN Homo sapiens (Human) # Orphanet 52503 X-linked creatine transporter deficiency # PANTHER PTHR11616 PTHR11616 # PIR G02095 G02095 # PIR JC2386 JC2386 # PRINTS PR00176 NANEUSMPORT # PRINTS PR01199 CRTTRANSPORT # PROSITE PS00610 NA_NEUROTRAN_SYMP_1 # PROSITE PS00754 NA_NEUROTRAN_SYMP_2 # PROSITE PS50267 NA_NEUROTRAN_SYMP_3 # Pfam PF00209 SNF # Proteomes UP000005640 Chromosome X # Reactome R-HSA-71288 Creatine metabolism # RecName SC6A8_HUMAN Sodium- and chloride-dependent creatine transporter 1 # RefSeq NP_001136277 NM_001142805.1 # RefSeq NP_001136278 NM_001142806.1. [P48029-4] # RefSeq NP_005620 NM_005629.3. [P48029-1] # SIMILARITY Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A8 subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION SC6A8_HUMAN Membrane; Multi-pass membrane protein. # TCDB 2.A.22.3.11:the neurotransmitter sodium symporter (nss) family # TISSUE SPECIFICITY SC6A8_HUMAN Predominantly expressed in skeletal muscle and kidney. Also found in brain, heart, colon, testis and prostate. {ECO 0000269|PubMed 7945388, ECO 0000269|PubMed 7953292}. # UCSC uc011myx human. [P48029-1] # eggNOG COG0733 LUCA # eggNOG KOG3659 Eukaryota BLAST swissprot:SC6A8_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SC6A8_HUMAN BioCyc ZFISH:ENSG00000130821-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000130821-MONOMER COXPRESdb 6535 http://coxpresdb.jp/data/gene/6535.shtml CleanEx HS_SLC6A8 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC6A8 DOI 10.1002/ana.10246 http://dx.doi.org/10.1002/ana.10246 DOI 10.1002/humu.20532 http://dx.doi.org/10.1002/humu.20532 DOI 10.1006/bbrc.1994.2475 http://dx.doi.org/10.1006/bbrc.1994.2475 DOI 10.1006/geno.1996.0373 http://dx.doi.org/10.1006/geno.1996.0373 DOI 10.1016/0378-1119(95)00104-E http://dx.doi.org/10.1016/0378-1119(95)00104-E DOI 10.1016/j.gene.2008.04.003 http://dx.doi.org/10.1016/j.gene.2008.04.003 DOI 10.1016/j.gene.2015.04.011 http://dx.doi.org/10.1016/j.gene.2015.04.011 DOI 10.1016/j.molcel.2008.07.007 http://dx.doi.org/10.1016/j.molcel.2008.07.007 DOI 10.1016/j.ymgme.2013.04.006 http://dx.doi.org/10.1016/j.ymgme.2013.04.006 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature03440 http://dx.doi.org/10.1038/nature03440 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1038/tp.2012.102 http://dx.doi.org/10.1038/tp.2012.102 DOI 10.1086/340092 http://dx.doi.org/10.1086/340092 DOI 10.1086/422102 http://dx.doi.org/10.1086/422102 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 DOI 10.1136/jmedgenet-2013-101644 http://dx.doi.org/10.1136/jmedgenet-2013-101644 DOI 10.1212/01.wnl.0000239153.39710.81 http://dx.doi.org/10.1212/01.wnl.0000239153.39710.81 DrugBank DB00148 http://www.drugbank.ca/drugs/DB00148 EMBL AK295495 http://www.ebi.ac.uk/ena/data/view/AK295495 EMBL BC012355 http://www.ebi.ac.uk/ena/data/view/BC012355 EMBL BC081558 http://www.ebi.ac.uk/ena/data/view/BC081558 EMBL EU280316 http://www.ebi.ac.uk/ena/data/view/EU280316 EMBL L31409 http://www.ebi.ac.uk/ena/data/view/L31409 EMBL S74039 http://www.ebi.ac.uk/ena/data/view/S74039 EMBL U17986 http://www.ebi.ac.uk/ena/data/view/U17986 EMBL U36341 http://www.ebi.ac.uk/ena/data/view/U36341 EMBL U52111 http://www.ebi.ac.uk/ena/data/view/U52111 EMBL Z66539 http://www.ebi.ac.uk/ena/data/view/Z66539 Ensembl ENST00000253122 http://www.ensembl.org/id/ENST00000253122 Ensembl ENST00000430077 http://www.ensembl.org/id/ENST00000430077 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005308 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005308 GO_function GO:0005309 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005309 GO_function GO:0005328 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005328 GO_process GO:0006600 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006600 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0006936 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006936 GO_process GO:0015881 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015881 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006520 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006520 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GeneCards SLC6A8 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC6A8 GeneID 6535 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6535 GeneTree ENSGT00760000118857 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118857 H-InvDB HIX0038627 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0038627 HGNC HGNC:11055 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11055 HOGENOM HOG000203877 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000203877&db=HOGENOM6 HOVERGEN HBG071421 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG071421&db=HOVERGEN HPA CAB004399 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB004399 InParanoid P48029 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P48029 IntAct P48029 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P48029* InterPro IPR000175 http://www.ebi.ac.uk/interpro/entry/IPR000175 InterPro IPR002984 http://www.ebi.ac.uk/interpro/entry/IPR002984 Jabion 6535 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6535 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00480 http://www.genome.jp/dbget-bin/www_bget?H00480 KEGG_Disease H00577 http://www.genome.jp/dbget-bin/www_bget?H00577 KEGG_Disease H00849 http://www.genome.jp/dbget-bin/www_bget?H00849 KEGG_Gene hsa:6535 http://www.genome.jp/dbget-bin/www_bget?hsa:6535 KEGG_Orthology KO:K05039 http://www.genome.jp/dbget-bin/www_bget?KO:K05039 MIM 300036 http://www.ncbi.nlm.nih.gov/omim/300036 MIM 300352 http://www.ncbi.nlm.nih.gov/omim/300352 OMA VPPRETW http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=VPPRETW Orphanet 52503 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=52503 OrthoDB EOG091G08PX http://cegg.unige.ch/orthodb/results?searchtext=EOG091G08PX PANTHER PTHR11616 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11616 PRINTS PR00176 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00176 PRINTS PR01199 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01199 PROSITE PS00610 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00610 PROSITE PS00754 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00754 PROSITE PS50267 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50267 PSORT swissprot:SC6A8_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SC6A8_HUMAN PSORT-B swissprot:SC6A8_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SC6A8_HUMAN PSORT2 swissprot:SC6A8_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SC6A8_HUMAN Pfam PF00209 http://pfam.xfam.org/family/PF00209 PharmGKB PA35915 http://www.pharmgkb.org/do/serve?objId=PA35915&objCls=Gene Phobius swissprot:SC6A8_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SC6A8_HUMAN PhylomeDB P48029 http://phylomedb.org/?seqid=P48029 ProteinModelPortal P48029 http://www.proteinmodelportal.org/query/uniprot/P48029 PubMed 11898126 http://www.ncbi.nlm.nih.gov/pubmed/11898126 PubMed 12210795 http://www.ncbi.nlm.nih.gov/pubmed/12210795 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15154114 http://www.ncbi.nlm.nih.gov/pubmed/15154114 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15772651 http://www.ncbi.nlm.nih.gov/pubmed/15772651 PubMed 17101918 http://www.ncbi.nlm.nih.gov/pubmed/17101918 PubMed 17465020 http://www.ncbi.nlm.nih.gov/pubmed/17465020 PubMed 18515020 http://www.ncbi.nlm.nih.gov/pubmed/18515020 PubMed 18691976 http://www.ncbi.nlm.nih.gov/pubmed/18691976 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 23092983 http://www.ncbi.nlm.nih.gov/pubmed/23092983 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 23660394 http://www.ncbi.nlm.nih.gov/pubmed/23660394 PubMed 24123876 http://www.ncbi.nlm.nih.gov/pubmed/24123876 PubMed 25861866 http://www.ncbi.nlm.nih.gov/pubmed/25861866 PubMed 7622069 http://www.ncbi.nlm.nih.gov/pubmed/7622069 PubMed 7945388 http://www.ncbi.nlm.nih.gov/pubmed/7945388 PubMed 7953292 http://www.ncbi.nlm.nih.gov/pubmed/7953292 PubMed 8661155 http://www.ncbi.nlm.nih.gov/pubmed/8661155 Reactome R-HSA-71288 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-71288 RefSeq NP_001136277 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001136277 RefSeq NP_001136278 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001136278 RefSeq NP_005620 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_005620 STRING 9606.ENSP00000253122 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000253122&targetmode=cogs TCDB 2.A.22.3.11 http://www.tcdb.org/search/result.php?tc=2.A.22.3.11 UCSC uc011myx http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc011myx&org=rat UniGene Hs.540696 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.540696 UniProtKB SC6A8_HUMAN http://www.uniprot.org/uniprot/SC6A8_HUMAN UniProtKB-AC P48029 http://www.uniprot.org/uniprot/P48029 charge swissprot:SC6A8_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SC6A8_HUMAN eggNOG COG0733 http://eggnogapi.embl.de/nog_data/html/tree/COG0733 eggNOG KOG3659 http://eggnogapi.embl.de/nog_data/html/tree/KOG3659 epestfind swissprot:SC6A8_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SC6A8_HUMAN garnier swissprot:SC6A8_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SC6A8_HUMAN helixturnhelix swissprot:SC6A8_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SC6A8_HUMAN hmoment swissprot:SC6A8_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SC6A8_HUMAN iep swissprot:SC6A8_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SC6A8_HUMAN inforesidue swissprot:SC6A8_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SC6A8_HUMAN neXtProt NX_P48029 http://www.nextprot.org/db/entry/NX_P48029 octanol swissprot:SC6A8_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SC6A8_HUMAN pepcoil swissprot:SC6A8_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SC6A8_HUMAN pepdigest swissprot:SC6A8_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SC6A8_HUMAN pepinfo swissprot:SC6A8_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SC6A8_HUMAN pepnet swissprot:SC6A8_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SC6A8_HUMAN pepstats swissprot:SC6A8_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SC6A8_HUMAN pepwheel swissprot:SC6A8_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SC6A8_HUMAN pepwindow swissprot:SC6A8_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SC6A8_HUMAN sigcleave swissprot:SC6A8_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SC6A8_HUMAN ## Database ID URL or Descriptions # BioGrid 117039 5 # ChiTaRS SEC61G human # Ensembl ENST00000352861 ENSP00000341538; ENSG00000132432 # Ensembl ENST00000395535 ENSP00000378906; ENSG00000132432 # Ensembl ENST00000415949 ENSP00000388337; ENSG00000132432 # Ensembl ENST00000450622 ENSP00000409884; ENSG00000132432 # ExpressionAtlas P60059 baseline and differential # FUNCTION SC61G_HUMAN Necessary for protein translocation in the endoplasmic reticulum. {ECO 0000250}. # GO_component GO:0005789 endoplasmic reticulum membrane; TAS:Reactome. # GO_component GO:0005829 cytosol; TAS:Reactome. # GO_component GO:0016020 membrane; IDA:MGI. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0008565 protein transporter activity; ISS:UniProtKB. # GO_function GO:0015450 P-P-bond-hydrolysis-driven protein transmembrane transporter activity; IEA:InterPro. # GO_process GO:0036498 IRE1-mediated unfolded protein response; TAS:Reactome. # GO_process GO:0045047 protein targeting to ER; ISS:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005829 cytosol # GOslim_function GO:0008565 protein transporter activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006605 protein targeting # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007165 signal transduction # Gene3D 1.20.5.820 -; 1. # Genevisible P60059 HS # HAMAP MF_00422 SecE # HGNC HGNC:18277 SEC61G # INTERACTION SC61G_HUMAN P11686 SFTPC; NbExp=3; IntAct=EBI-4402709, EBI-10197617; # IntAct P60059 2 # InterPro IPR001901 Translocase_SecE/Sec61-g # InterPro IPR008158 Translocase_Sec61-g # InterPro IPR022943 SecE # InterPro IPR023391 Prot_translocase_SecE_dom # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Brite ko02044 M00401 Sec61 complex # KEGG_Brite ko02044 Secretion system # KEGG_Pathway ko03060 Protein export # KEGG_Pathway ko04141 Protein processing in endoplasmic reticulum # KEGG_Pathway ko04145 Phagosome # KEGG_Pathway ko05110 Vibrio cholerae infection # MIM 609215 gene # Organism SC61G_HUMAN Homo sapiens (Human) # PIR S42412 S42412 # PROSITE PS01067 SECE_SEC61G # Pfam PF00584 SecE # Proteomes UP000005640 Chromosome 7 # Reactome R-HSA-1236974 ER-Phagosome pathway # Reactome R-HSA-1799339 SRP-dependent cotranslational protein targeting to membrane # Reactome R-HSA-381038 XBP1(S) activates chaperone genes # RecName SC61G_HUMAN Protein transport protein Sec61 subunit gamma # RefSeq NP_001012474 NM_001012456.1 # RefSeq NP_055117 NM_014302.3 # SIMILARITY Belongs to the SecE/SEC61-gamma family. {ECO 0000305}. # SUBCELLULAR LOCATION SC61G_HUMAN Endoplasmic reticulum membrane {ECO 0000250}; Single-pass membrane protein {ECO 0000250}. # SUBUNIT Heterotrimeric complex composed of SEC61-alpha, SEC61- beta and SEC61-gamma. {ECO 0000250}. # SUPFAM SSF103456 SSF103456 # TCDB 3.A.5.9 the general secretory pathway (sec) family # TIGRFAMs TIGR00327 secE_euk_arch # UCSC uc003tqf human # eggNOG ENOG4111WJ7 LUCA # eggNOG KOG3498 Eukaryota BLAST swissprot:SC61G_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SC61G_HUMAN BioCyc ZFISH:ENSG00000132432-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000132432-MONOMER COG COG2443 http://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=COG2443 COXPRESdb 23480 http://coxpresdb.jp/data/gene/23480.shtml CleanEx HS_SEC61G http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SEC61G DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.1210303109 http://dx.doi.org/10.1073/pnas.1210303109 DOI 10.1074/mcp.M111.015131 http://dx.doi.org/10.1074/mcp.M111.015131 DOI 10.1101/gr.140200 http://dx.doi.org/10.1101/gr.140200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AF054184 http://www.ebi.ac.uk/ena/data/view/AF054184 EMBL AK311845 http://www.ebi.ac.uk/ena/data/view/AK311845 EMBL BC009480 http://www.ebi.ac.uk/ena/data/view/BC009480 EMBL BC051840 http://www.ebi.ac.uk/ena/data/view/BC051840 EMBL CH471201 http://www.ebi.ac.uk/ena/data/view/CH471201 EMBL CR456979 http://www.ebi.ac.uk/ena/data/view/CR456979 Ensembl ENST00000352861 http://www.ensembl.org/id/ENST00000352861 Ensembl ENST00000395535 http://www.ensembl.org/id/ENST00000395535 Ensembl ENST00000415949 http://www.ensembl.org/id/ENST00000415949 Ensembl ENST00000450622 http://www.ensembl.org/id/ENST00000450622 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005789 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005789 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GO_function GO:0015450 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015450 GO_process GO:0036498 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0036498 GO_process GO:0045047 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045047 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006605 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006605 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 Gene3D 1.20.5.820 http://www.cathdb.info/version/latest/superfamily/1.20.5.820 GeneCards SEC61G http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SEC61G GeneID 23480 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=23480 GeneTree ENSGT00390000001319 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000001319 HAMAP MF_00422 http://hamap.expasy.org/unirule/MF_00422 HGNC HGNC:18277 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:18277 HOGENOM HOG000194479 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000194479&db=HOGENOM6 HOVERGEN HBG058067 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG058067&db=HOVERGEN HPA HPA053196 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA053196 InParanoid P60059 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P60059 IntAct P60059 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P60059* InterPro IPR001901 http://www.ebi.ac.uk/interpro/entry/IPR001901 InterPro IPR008158 http://www.ebi.ac.uk/interpro/entry/IPR008158 InterPro IPR022943 http://www.ebi.ac.uk/interpro/entry/IPR022943 InterPro IPR023391 http://www.ebi.ac.uk/interpro/entry/IPR023391 Jabion 23480 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=23480 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00002 http://www.genome.jp/dbget-bin/www_bget?ko00002 KEGG_Brite ko02044 http://www.genome.jp/dbget-bin/www_bget?ko02044 KEGG_Brite ko02044 http://www.genome.jp/dbget-bin/www_bget?ko02044 KEGG_Gene hsa:23480 http://www.genome.jp/dbget-bin/www_bget?hsa:23480 KEGG_Orthology KO:K07342 http://www.genome.jp/dbget-bin/www_bget?KO:K07342 KEGG_Pathway ko03060 http://www.genome.jp/kegg-bin/show_pathway?ko03060 KEGG_Pathway ko04141 http://www.genome.jp/kegg-bin/show_pathway?ko04141 KEGG_Pathway ko04145 http://www.genome.jp/kegg-bin/show_pathway?ko04145 KEGG_Pathway ko05110 http://www.genome.jp/kegg-bin/show_pathway?ko05110 MIM 609215 http://www.ncbi.nlm.nih.gov/omim/609215 MINT MINT-3021864 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-3021864 OMA HIPLNHA http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=HIPLNHA OrthoDB EOG091G19JS http://cegg.unige.ch/orthodb/results?searchtext=EOG091G19JS PROSITE PS01067 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS01067 PSORT swissprot:SC61G_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SC61G_HUMAN PSORT-B swissprot:SC61G_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SC61G_HUMAN PSORT2 swissprot:SC61G_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SC61G_HUMAN Pfam PF00584 http://pfam.xfam.org/family/PF00584 PharmGKB PA134939045 http://www.pharmgkb.org/do/serve?objId=PA134939045&objCls=Gene Phobius swissprot:SC61G_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SC61G_HUMAN PhylomeDB P60059 http://phylomedb.org/?seqid=P60059 ProteinModelPortal P60059 http://www.proteinmodelportal.org/query/uniprot/P60059 PubMed 11042152 http://www.ncbi.nlm.nih.gov/pubmed/11042152 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 22223895 http://www.ncbi.nlm.nih.gov/pubmed/22223895 PubMed 22814378 http://www.ncbi.nlm.nih.gov/pubmed/22814378 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 Reactome R-HSA-1236974 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1236974 Reactome R-HSA-1799339 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1799339 Reactome R-HSA-381038 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-381038 RefSeq NP_001012474 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001012474 RefSeq NP_055117 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_055117 SMR P60059 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P60059 STRING 9606.ENSP00000341538 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000341538&targetmode=cogs STRING COG2443 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=COG2443&targetmode=cogs SUPFAM SSF103456 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103456 TCDB 3.A.5.9 http://www.tcdb.org/search/result.php?tc=3.A.5.9 TIGRFAMs TIGR00327 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00327 UCSC uc003tqf http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003tqf&org=rat UniGene Hs.488282 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.488282 UniProtKB SC61G_HUMAN http://www.uniprot.org/uniprot/SC61G_HUMAN UniProtKB-AC P60059 http://www.uniprot.org/uniprot/P60059 charge swissprot:SC61G_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SC61G_HUMAN eggNOG ENOG4111WJ7 http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111WJ7 eggNOG KOG3498 http://eggnogapi.embl.de/nog_data/html/tree/KOG3498 epestfind swissprot:SC61G_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SC61G_HUMAN garnier swissprot:SC61G_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SC61G_HUMAN helixturnhelix swissprot:SC61G_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SC61G_HUMAN hmoment swissprot:SC61G_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SC61G_HUMAN iep swissprot:SC61G_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SC61G_HUMAN inforesidue swissprot:SC61G_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SC61G_HUMAN neXtProt NX_P60059 http://www.nextprot.org/db/entry/NX_P60059 octanol swissprot:SC61G_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SC61G_HUMAN pepcoil swissprot:SC61G_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SC61G_HUMAN pepdigest swissprot:SC61G_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SC61G_HUMAN pepinfo swissprot:SC61G_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SC61G_HUMAN pepnet swissprot:SC61G_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SC61G_HUMAN pepstats swissprot:SC61G_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SC61G_HUMAN pepwheel swissprot:SC61G_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SC61G_HUMAN pepwindow swissprot:SC61G_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SC61G_HUMAN sigcleave swissprot:SC61G_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SC61G_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS ABCC9_HUMAN Event=Alternative splicing; Named isoforms=2; Name=SUR2A; IsoId=O60706-1; Sequence=Displayed; Name=SUR2B; IsoId=O60706-2; Sequence=VSP_000058; # AltName ABCC9_HUMAN Sulfonylurea receptor 2 # BioGrid 115371 3 # CCDS CCDS8693 -. [O60706-2] # CCDS CCDS8694 -. [O60706-1] # DISEASE ABCC9_HUMAN Atrial fibrillation, familial, 12 (ATFB12) [MIM 614050] A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. {ECO 0000269|PubMed 17245405}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE ABCC9_HUMAN Cardiomyopathy, dilated 1O (CMD1O) [MIM 608569] A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO 0000269|PubMed 15034580}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE ABCC9_HUMAN Hypertrichotic osteochondrodysplasia (HTOCD) [MIM 239850] A rare disorder characterized by congenital hypertrichosis, neonatal macrosomia, a distinct osteochondrodysplasia, and cardiomegaly. The hypertrichosis leads to thick scalp hair, which extends onto the forehead, and a general increase in body hair. In addition, macrocephaly and coarse facial features, including a broad nasal bridge, epicanthal folds, a wide mouth, and full lips, can be suggestive of a storage disorder. About half of affected individuals are macrosomic and edematous at birth, whereas in childhood they usually have a muscular appearance with little subcutaneous fat. Thickened calvarium, narrow thorax, wide ribs, flattened or ovoid vertebral bodies, coxa valga, osteopenia, enlarged medullary canals, and metaphyseal widening of long bones have been reported. Cardiac manifestations such as patent ductus arteriosus, ventricular hypertrophy, pulmonary hypertension, and pericardial effusions are present in approximately 80% of cases. Motor development is usually delayed due to hypotonia. Most patients have a mild speech delay, and a small percentage have learning difficulties or intellectual disability. {ECO 0000269|PubMed 22608503, ECO 0000269|PubMed 22610116, ECO 0000269|PubMed 26621776}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DrugBank DB00171 Adenosine triphosphate # DrugBank DB01016 Glyburide # Ensembl ENST00000261200 ENSP00000261200; ENSG00000069431. [O60706-2] # Ensembl ENST00000261201 ENSP00000261201; ENSG00000069431. [O60706-1] # ExpressionAtlas O60706 baseline and differential # FUNCTION ABCC9_HUMAN Subunit of ATP-sensitive potassium channels (KATP). Can form cardiac and smooth muscle-type KATP channels with KCNJ11. KCNJ11 forms the channel pore while ABCC9 is required for activation and regulation. {ECO 0000269|PubMed 9831708}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0008076 voltage-gated potassium channel complex; IDA:BHF-UCL. # GO_component GO:0008282 ATP-sensitive potassium channel complex; ISS:BHF-UCL. # GO_component GO:0030017 sarcomere; IEA:Ensembl. # GO_component GO:0042383 sarcolemma; IEA:Ensembl. # GO_function GO:0005215 transporter activity; TAS:ProtInc. # GO_function GO:0005267 potassium channel activity; IEA:Ensembl. # GO_function GO:0005524 ATP binding; IEA:UniProtKB-KW. # GO_function GO:0008281 sulfonylurea receptor activity; ISS:BHF-UCL. # GO_function GO:0015459 potassium channel regulator activity; ISS:BHF-UCL. # GO_function GO:0043225 ATPase-coupled anion transmembrane transporter activity; TAS:Reactome. # GO_function GO:0044325 ion channel binding; IPI:BHF-UCL. # GO_process GO:0006813 potassium ion transport; TAS:ProtInc. # GO_process GO:0010107 potassium ion import; ISS:BHF-UCL. # GO_process GO:0051607 defense response to virus; IMP:MGI. # GO_process GO:0055085 transmembrane transport; TAS:Reactome. # GO_process GO:1903779 regulation of cardiac conduction; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0002376 immune system process # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0008150 biological_process # GOslim_process GO:0044403 symbiosis, encompassing mutualism through parasitism # GOslim_process GO:0055085 transmembrane transport # Gene3D 3.40.50.300 -; 2. # Genevisible O60706 HS # HGNC HGNC:60 ABCC9 # InterPro IPR000388 Sulphorea_rcpt # InterPro IPR001475 ABCC9 # InterPro IPR003439 ABC_transporter-like # InterPro IPR003593 AAA+_ATPase # InterPro IPR011527 ABC1_TM_dom # InterPro IPR017871 ABC_transporter_CS # InterPro IPR027417 P-loop_NTPase # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02000 Transporters # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00294 [Cardiovascular disease] Dilated cardiomyopathy (DCM) # KEGG_Disease H00731 [Cardiovascular disease] Atrial fibrillation # KEGG_Pathway ko02010 ABC transporters # MIM 239850 phenotype # MIM 601439 gene # MIM 608569 phenotype # MIM 614050 phenotype # MISCELLANEOUS May contribute to the regulation of sleep duration. An intronic variant of this gene may account for about 5% of the variation of sleep duration between individuals (PubMed:22105623). Sleep duration is influenced both by environmental and genetic factors, with an estimated heritability of about 40%. Numerous genes are expected to contribute to the regulation of sleep duration. {ECO 0000305|PubMed:22105623}. # Organism ABCC9_HUMAN Homo sapiens (Human) # Orphanet 1517 Hypertrichotic osteochondrodysplasia, Cantu type # Orphanet 154 Familial isolated dilated cardiomyopathy # Orphanet 334 Familial atrial fibrillation # Orphanet 965 Acromegaloid facial appearance syndrome # Orphanet 966 Hypertrichosis-acromegaloid facial appearance syndrome # PANTHER PTHR24223:SF173 PTHR24223:SF173; 4 # PRINTS PR01092 SULFNYLUREAR # PRINTS PR01094 SULFNYLUR2 # PROSITE PS00211 ABC_TRANSPORTER_1; 2 # PROSITE PS50893 ABC_TRANSPORTER_2; 2 # PROSITE PS50929 ABC_TM1F; 2 # Pfam PF00005 ABC_tran; 2 # Pfam PF00664 ABC_membrane; 2 # Proteomes UP000005640 Chromosome 12 # Reactome R-HSA-1296025 ATP sensitive Potassium channels # Reactome R-HSA-382556 ABC-family proteins mediated transport # Reactome R-HSA-5578775 Ion homeostasis # RecName ABCC9_HUMAN ATP-binding cassette sub-family C member 9 # RefSeq NP_005682 NM_005691.3. [O60706-1] # RefSeq NP_064693 NM_020297.3. [O60706-2] # RefSeq XP_005253341 XM_005253284.3. [O60706-2] # RefSeq XP_005253343 XM_005253286.3. [O60706-2] # RefSeq XP_005253344 XM_005253287.4. [O60706-1] # RefSeq XP_005253345 XM_005253288.3. [O60706-2] # RefSeq XP_011518847 XM_011520545.2. [O60706-2] # SIMILARITY Belongs to the ABC transporter superfamily. ABCC family. Conjugate transporter (TC 3.A.1.208) subfamily. {ECO 0000305}. # SIMILARITY Contains 2 ABC transmembrane type-1 domains. {ECO:0000255|PROSITE-ProRule PRU00441}. # SIMILARITY Contains 2 ABC transporter domains. {ECO:0000255|PROSITE-ProRule PRU00434}. # SMART SM00382 AAA; 2 # SUBCELLULAR LOCATION ABCC9_HUMAN Membrane {ECO 0000255|PROSITE- ProRule PRU00441}; Multi-pass membrane protein {ECO 0000255|PROSITE-ProRule PRU00441}. # SUBUNIT Interacts with KCNJ11. {ECO:0000269|PubMed 9831708}. # SUPFAM SSF52540 SSF52540; 2 # SUPFAM SSF90123 SSF90123; 2 # TCDB 3.A.1.208.23 the atp-binding cassette (abc) superfamily # UCSC uc001rfh human. [O60706-1] # WEB RESOURCE ABCC9_HUMAN Name=ABCMdb; Note=Database for mutations in ABC proteins; URL="http //abcmutations.hegelab.org/proteinDetails?uniprot_id=O60706"; # WEB RESOURCE ABCC9_HUMAN Name=Protein Spotlight; Note=On The Other Side - Issue 139 of June 2012; URL="http //web.expasy.org/spotlight/back_issues/139"; # eggNOG COG1132 LUCA # eggNOG KOG0054 Eukaryota BLAST swissprot:ABCC9_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ABCC9_HUMAN BioCyc ZFISH:ENSG00000069431-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000069431-MONOMER COXPRESdb 10060 http://coxpresdb.jp/data/gene/10060.shtml CleanEx HS_ABCC9 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ABCC9 DOI 10.1016/j.ajhg.2012.04.014 http://dx.doi.org/10.1016/j.ajhg.2012.04.014 DOI 10.1038/mp.2011.142 http://dx.doi.org/10.1038/mp.2011.142 DOI 10.1038/nature04569 http://dx.doi.org/10.1038/nature04569 DOI 10.1038/ncpcardio0792 http://dx.doi.org/10.1038/ncpcardio0792 DOI 10.1038/ng.2324 http://dx.doi.org/10.1038/ng.2324 DOI 10.1038/ng1329 http://dx.doi.org/10.1038/ng1329 DOI 10.1085/jgp.201511495 http://dx.doi.org/10.1085/jgp.201511495 DOI 10.1161/01.RES.83.11.1132 http://dx.doi.org/10.1161/01.RES.83.11.1132 DrugBank DB00171 http://www.drugbank.ca/drugs/DB00171 DrugBank DB01016 http://www.drugbank.ca/drugs/DB01016 EMBL AC008250 http://www.ebi.ac.uk/ena/data/view/AC008250 EMBL AC084806 http://www.ebi.ac.uk/ena/data/view/AC084806 EMBL AF061289 http://www.ebi.ac.uk/ena/data/view/AF061289 EMBL AF061289 http://www.ebi.ac.uk/ena/data/view/AF061289 EMBL AF061290 http://www.ebi.ac.uk/ena/data/view/AF061290 EMBL AF061290 http://www.ebi.ac.uk/ena/data/view/AF061290 EMBL AF061291 http://www.ebi.ac.uk/ena/data/view/AF061291 EMBL AF061291 http://www.ebi.ac.uk/ena/data/view/AF061291 EMBL AF061292 http://www.ebi.ac.uk/ena/data/view/AF061292 EMBL AF061292 http://www.ebi.ac.uk/ena/data/view/AF061292 EMBL AF061293 http://www.ebi.ac.uk/ena/data/view/AF061293 EMBL AF061293 http://www.ebi.ac.uk/ena/data/view/AF061293 EMBL AF061294 http://www.ebi.ac.uk/ena/data/view/AF061294 EMBL AF061294 http://www.ebi.ac.uk/ena/data/view/AF061294 EMBL AF061295 http://www.ebi.ac.uk/ena/data/view/AF061295 EMBL AF061295 http://www.ebi.ac.uk/ena/data/view/AF061295 EMBL AF061296 http://www.ebi.ac.uk/ena/data/view/AF061296 EMBL AF061296 http://www.ebi.ac.uk/ena/data/view/AF061296 EMBL AF061297 http://www.ebi.ac.uk/ena/data/view/AF061297 EMBL AF061297 http://www.ebi.ac.uk/ena/data/view/AF061297 EMBL AF061298 http://www.ebi.ac.uk/ena/data/view/AF061298 EMBL AF061298 http://www.ebi.ac.uk/ena/data/view/AF061298 EMBL AF061299 http://www.ebi.ac.uk/ena/data/view/AF061299 EMBL AF061299 http://www.ebi.ac.uk/ena/data/view/AF061299 EMBL AF061300 http://www.ebi.ac.uk/ena/data/view/AF061300 EMBL AF061300 http://www.ebi.ac.uk/ena/data/view/AF061300 EMBL AF061301 http://www.ebi.ac.uk/ena/data/view/AF061301 EMBL AF061301 http://www.ebi.ac.uk/ena/data/view/AF061301 EMBL AF061302 http://www.ebi.ac.uk/ena/data/view/AF061302 EMBL AF061302 http://www.ebi.ac.uk/ena/data/view/AF061302 EMBL AF061303 http://www.ebi.ac.uk/ena/data/view/AF061303 EMBL AF061303 http://www.ebi.ac.uk/ena/data/view/AF061303 EMBL AF061304 http://www.ebi.ac.uk/ena/data/view/AF061304 EMBL AF061304 http://www.ebi.ac.uk/ena/data/view/AF061304 EMBL AF061305 http://www.ebi.ac.uk/ena/data/view/AF061305 EMBL AF061305 http://www.ebi.ac.uk/ena/data/view/AF061305 EMBL AF061306 http://www.ebi.ac.uk/ena/data/view/AF061306 EMBL AF061306 http://www.ebi.ac.uk/ena/data/view/AF061306 EMBL AF061307 http://www.ebi.ac.uk/ena/data/view/AF061307 EMBL AF061307 http://www.ebi.ac.uk/ena/data/view/AF061307 EMBL AF061308 http://www.ebi.ac.uk/ena/data/view/AF061308 EMBL AF061308 http://www.ebi.ac.uk/ena/data/view/AF061308 EMBL AF061309 http://www.ebi.ac.uk/ena/data/view/AF061309 EMBL AF061309 http://www.ebi.ac.uk/ena/data/view/AF061309 EMBL AF061310 http://www.ebi.ac.uk/ena/data/view/AF061310 EMBL AF061310 http://www.ebi.ac.uk/ena/data/view/AF061310 EMBL AF061311 http://www.ebi.ac.uk/ena/data/view/AF061311 EMBL AF061311 http://www.ebi.ac.uk/ena/data/view/AF061311 EMBL AF061312 http://www.ebi.ac.uk/ena/data/view/AF061312 EMBL AF061312 http://www.ebi.ac.uk/ena/data/view/AF061312 EMBL AF061313 http://www.ebi.ac.uk/ena/data/view/AF061313 EMBL AF061313 http://www.ebi.ac.uk/ena/data/view/AF061313 EMBL AF061314 http://www.ebi.ac.uk/ena/data/view/AF061314 EMBL AF061314 http://www.ebi.ac.uk/ena/data/view/AF061314 EMBL AF061315 http://www.ebi.ac.uk/ena/data/view/AF061315 EMBL AF061315 http://www.ebi.ac.uk/ena/data/view/AF061315 EMBL AF061316 http://www.ebi.ac.uk/ena/data/view/AF061316 EMBL AF061316 http://www.ebi.ac.uk/ena/data/view/AF061316 EMBL AF061317 http://www.ebi.ac.uk/ena/data/view/AF061317 EMBL AF061317 http://www.ebi.ac.uk/ena/data/view/AF061317 EMBL AF061318 http://www.ebi.ac.uk/ena/data/view/AF061318 EMBL AF061318 http://www.ebi.ac.uk/ena/data/view/AF061318 EMBL AF061319 http://www.ebi.ac.uk/ena/data/view/AF061319 EMBL AF061319 http://www.ebi.ac.uk/ena/data/view/AF061319 EMBL AF061320 http://www.ebi.ac.uk/ena/data/view/AF061320 EMBL AF061320 http://www.ebi.ac.uk/ena/data/view/AF061320 EMBL AF061321 http://www.ebi.ac.uk/ena/data/view/AF061321 EMBL AF061321 http://www.ebi.ac.uk/ena/data/view/AF061321 EMBL AF061322 http://www.ebi.ac.uk/ena/data/view/AF061322 EMBL AF061322 http://www.ebi.ac.uk/ena/data/view/AF061322 EMBL AF061323 http://www.ebi.ac.uk/ena/data/view/AF061323 EMBL AF061324 http://www.ebi.ac.uk/ena/data/view/AF061324 Ensembl ENST00000261200 http://www.ensembl.org/id/ENST00000261200 Ensembl ENST00000261201 http://www.ensembl.org/id/ENST00000261201 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0008076 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008076 GO_component GO:0008282 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008282 GO_component GO:0030017 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030017 GO_component GO:0042383 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042383 GO_function GO:0005215 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005215 GO_function GO:0005267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005267 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0008281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008281 GO_function GO:0015459 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015459 GO_function GO:0043225 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043225 GO_function GO:0044325 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044325 GO_process GO:0006813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006813 GO_process GO:0010107 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010107 GO_process GO:0051607 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051607 GO_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GO_process GO:1903779 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903779 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0002376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002376 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0044403 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044403 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 3.40.50.300 http://www.cathdb.info/version/latest/superfamily/3.40.50.300 GeneCards ABCC9 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ABCC9 GeneID 10060 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=10060 GeneTree ENSGT00860000133722 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00860000133722 HGNC HGNC:60 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:60 HOVERGEN HBG101342 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG101342&db=HOVERGEN HPA HPA007279 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA007279 InParanoid O60706 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O60706 IntAct O60706 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O60706* InterPro IPR000388 http://www.ebi.ac.uk/interpro/entry/IPR000388 InterPro IPR001475 http://www.ebi.ac.uk/interpro/entry/IPR001475 InterPro IPR003439 http://www.ebi.ac.uk/interpro/entry/IPR003439 InterPro IPR003593 http://www.ebi.ac.uk/interpro/entry/IPR003593 InterPro IPR011527 http://www.ebi.ac.uk/interpro/entry/IPR011527 InterPro IPR017871 http://www.ebi.ac.uk/interpro/entry/IPR017871 InterPro IPR027417 http://www.ebi.ac.uk/interpro/entry/IPR027417 Jabion 10060 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=10060 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00294 http://www.genome.jp/dbget-bin/www_bget?H00294 KEGG_Disease H00731 http://www.genome.jp/dbget-bin/www_bget?H00731 KEGG_Gene hsa:10060 http://www.genome.jp/dbget-bin/www_bget?hsa:10060 KEGG_Orthology KO:K05033 http://www.genome.jp/dbget-bin/www_bget?KO:K05033 KEGG_Pathway ko02010 http://www.genome.jp/kegg-bin/show_pathway?ko02010 MIM 239850 http://www.ncbi.nlm.nih.gov/omim/239850 MIM 601439 http://www.ncbi.nlm.nih.gov/omim/601439 MIM 608569 http://www.ncbi.nlm.nih.gov/omim/608569 MIM 614050 http://www.ncbi.nlm.nih.gov/omim/614050 OMA HAYASGN http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=HAYASGN Orphanet 1517 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1517 Orphanet 154 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=154 Orphanet 334 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=334 Orphanet 965 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=965 Orphanet 966 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=966 OrthoDB EOG091G00IN http://cegg.unige.ch/orthodb/results?searchtext=EOG091G00IN PANTHER PTHR24223:SF173 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24223:SF173 PRINTS PR01092 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01092 PRINTS PR01094 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01094 PROSITE PS00211 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00211 PROSITE PS50893 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50893 PROSITE PS50929 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50929 PSORT swissprot:ABCC9_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ABCC9_HUMAN PSORT-B swissprot:ABCC9_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ABCC9_HUMAN PSORT2 swissprot:ABCC9_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ABCC9_HUMAN Pfam PF00005 http://pfam.xfam.org/family/PF00005 Pfam PF00664 http://pfam.xfam.org/family/PF00664 PharmGKB PA396 http://www.pharmgkb.org/do/serve?objId=PA396&objCls=Gene Phobius swissprot:ABCC9_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ABCC9_HUMAN PhylomeDB O60706 http://phylomedb.org/?seqid=O60706 ProteinModelPortal O60706 http://www.proteinmodelportal.org/query/uniprot/O60706 PubMed 15034580 http://www.ncbi.nlm.nih.gov/pubmed/15034580 PubMed 16541075 http://www.ncbi.nlm.nih.gov/pubmed/16541075 PubMed 17245405 http://www.ncbi.nlm.nih.gov/pubmed/17245405 PubMed 22105623 http://www.ncbi.nlm.nih.gov/pubmed/22105623 PubMed 22608503 http://www.ncbi.nlm.nih.gov/pubmed/22608503 PubMed 22610116 http://www.ncbi.nlm.nih.gov/pubmed/22610116 PubMed 26621776 http://www.ncbi.nlm.nih.gov/pubmed/26621776 PubMed 9457174 http://www.ncbi.nlm.nih.gov/pubmed/9457174 PubMed 9831708 http://www.ncbi.nlm.nih.gov/pubmed/9831708 Reactome R-HSA-1296025 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1296025 Reactome R-HSA-382556 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-382556 Reactome R-HSA-5578775 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5578775 RefSeq NP_005682 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_005682 RefSeq NP_064693 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_064693 RefSeq XP_005253341 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005253341 RefSeq XP_005253343 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005253343 RefSeq XP_005253344 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005253344 RefSeq XP_005253345 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005253345 RefSeq XP_011518847 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011518847 SMART SM00382 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00382 STRING 9606.ENSP00000261200 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000261200&targetmode=cogs SUPFAM SSF52540 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52540 SUPFAM SSF90123 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF90123 TCDB 3.A.1.208.23 http://www.tcdb.org/search/result.php?tc=3.A.1.208.23 UCSC uc001rfh http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001rfh&org=rat UniGene Hs.732701 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.732701 UniProtKB ABCC9_HUMAN http://www.uniprot.org/uniprot/ABCC9_HUMAN UniProtKB-AC O60706 http://www.uniprot.org/uniprot/O60706 charge swissprot:ABCC9_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ABCC9_HUMAN eggNOG COG1132 http://eggnogapi.embl.de/nog_data/html/tree/COG1132 eggNOG KOG0054 http://eggnogapi.embl.de/nog_data/html/tree/KOG0054 epestfind swissprot:ABCC9_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ABCC9_HUMAN garnier swissprot:ABCC9_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ABCC9_HUMAN helixturnhelix swissprot:ABCC9_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ABCC9_HUMAN hmoment swissprot:ABCC9_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ABCC9_HUMAN iep swissprot:ABCC9_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ABCC9_HUMAN inforesidue swissprot:ABCC9_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ABCC9_HUMAN neXtProt NX_O60706 http://www.nextprot.org/db/entry/NX_O60706 octanol swissprot:ABCC9_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ABCC9_HUMAN pepcoil swissprot:ABCC9_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ABCC9_HUMAN pepdigest swissprot:ABCC9_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ABCC9_HUMAN pepinfo swissprot:ABCC9_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ABCC9_HUMAN pepnet swissprot:ABCC9_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ABCC9_HUMAN pepstats swissprot:ABCC9_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ABCC9_HUMAN pepwheel swissprot:ABCC9_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ABCC9_HUMAN pepwindow swissprot:ABCC9_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ABCC9_HUMAN sigcleave swissprot:ABCC9_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ABCC9_HUMAN ## Database ID URL or Descriptions # AltName IMA1_HUMAN Karyopherin subunit alpha-2 # AltName IMA1_HUMAN RAG cohort protein 1 # AltName IMA1_HUMAN SRP1-alpha # BioGrid 110036 188 # ChiTaRS KPNA2 human # DOMAIN IMA1_HUMAN Consists of an N-terminal hydrophilic region, a hydrophobic central region composed of 10 repeats, and a short hydrophilic C-terminus. The N-terminal hydrophilic region contains the importin beta binding domain (IBB domain), which is sufficient for binding importin beta and essential for nuclear protein import. {ECO 0000269|PubMed 8617227}. # DOMAIN IMA1_HUMAN The IBB domain is thought to act as an intrasteric autoregulatory sequence by interacting with the internal autoinhibitory NLS. Binding of KPNB1 probably overlaps the internal NLS and contributes to a high affinity for cytoplasmic NLS-containing cargo substrates. After dissociation of the importin/substrate complex in the nucleus the internal autohibitory NLS contributes to a low affinity for nuclear NLS- containing proteins (By similarity). {ECO 0000250}. # DOMAIN IMA1_HUMAN The major and minor NLS binding sites are mainly involved in recognition of simple or bipartite NLS motifs. Structurally located within in a helical surface groove they contain several conserved Trp and Asn residues of the corresponding third helices (H3) of ARM repeats which mainly contribute to binding (By similarity). {ECO 0000250}. # Ensembl ENST00000330459 ENSP00000332455; ENSG00000182481 # Ensembl ENST00000537025 ENSP00000438483; ENSG00000182481 # ExpressionAtlas P52292 baseline and differential # FUNCTION IMA1_HUMAN Functions in nuclear protein import as an adapter protein for nuclear receptor KPNB1. Binds specifically and directly to substrates containing either a simple or bipartite NLS motif. Docking of the importin/substrate complex to the nuclear pore complex (NPC) is mediated by KPNB1 through binding to nucleoporin FxFG repeats and the complex is subsequently translocated through the pore by an energy requiring, Ran- dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to importin-beta and the three components separate and importin-alpha and -beta are re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran from importin. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. # GO_component GO:0005643 nuclear pore; IBA:GO_Central. # GO_component GO:0005654 nucleoplasm; IDA:HPA. # GO_component GO:0005737 cytoplasm; IDA:HPA. # GO_component GO:0005829 cytosol; IBA:GO_Central. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_function GO:0008139 nuclear localization sequence binding; IDA:UniProtKB. # GO_function GO:0008565 protein transporter activity; IBA:GO_Central. # GO_function GO:0042826 histone deacetylase binding; IPI:BHF-UCL. # GO_function GO:0044822 poly(A) RNA binding; IDA:UniProtKB. # GO_process GO:0000018 regulation of DNA recombination; TAS:ProtInc. # GO_process GO:0006259 DNA metabolic process; TAS:ProtInc. # GO_process GO:0006607 NLS-bearing protein import into nucleus; IDA:UniProtKB. # GO_process GO:0019054 modulation by virus of host process; TAS:Reactome. # GO_process GO:0075733 intracellular transport of virus; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005654 nucleoplasm # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005829 cytosol # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0003723 RNA binding # GOslim_function GO:0008565 protein transporter activity # GOslim_function GO:0019899 enzyme binding # GOslim_process GO:0006259 DNA metabolic process # GOslim_process GO:0006810 transport # GOslim_process GO:0006913 nucleocytoplasmic transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0044403 symbiosis, encompassing mutualism through parasitism # Gene3D 1.25.10.10 -; 1. # Genevisible P52292 HS # HGNC HGNC:6395 KPNA2 # INTERACTION IMA1_HUMAN P38398 BRCA1; NbExp=3; IntAct=EBI-349938, EBI-349905; P05412 JUN; NbExp=4; IntAct=EBI-349938, EBI-852823; P03101 L1 (xeno); NbExp=3; IntAct=EBI-349938, EBI-7362698; P03107 L2 (xeno); NbExp=3; IntAct=EBI-349938, EBI-7362531; Q6GQG6 npm2 (xeno); NbExp=2; IntAct=EBI-349938, EBI-8469111; Q9UKX7 NUP50; NbExp=3; IntAct=EBI-349938, EBI-2371082; P46063 RECQL; NbExp=2; IntAct=EBI-349938, EBI-2823728; P04620 rev (xeno); NbExp=2; IntAct=EBI-349938, EBI-10687101; P29034 S100A2; NbExp=5; IntAct=EBI-349938, EBI-752230; P06703 S100A6; NbExp=3; IntAct=EBI-349938, EBI-352877; Q15637 SF1; NbExp=5; IntAct=EBI-349938, EBI-744603; Q9UH99 SUN2; NbExp=3; IntAct=EBI-349938, EBI-1044964; # IntAct P52292 93 # InterPro IPR000225 Armadillo # InterPro IPR002652 Importin-a_IBB # InterPro IPR011989 ARM-like # InterPro IPR016024 ARM-type_fold # InterPro IPR024931 Importing_su_alpha # InterPro IPR032413 Arm_3 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko03036 Chromosome # KEGG_Pathway ko05164 Influenza A # MASS SPECTROMETRY Mass=57861.92; Method=MALDI; Range=1-529; Evidence={ECO:0000269|PubMed 11840567}; # MIM 600685 gene # Organism IMA1_HUMAN Homo sapiens (Human) # PDB 1EFX X-ray; 3.00 A; C=204-212 # PDB 1QGK X-ray; 2.50 A; B=11-54 # PDB 1QGR X-ray; 2.30 A; B=28-54 # PDB 3FEX X-ray; 3.55 A; C=70-529 # PDB 3FEY X-ray; 2.20 A; C=70-529 # PDB 3WPT X-ray; 2.63 A; A/B=75-497 # PDB 4E4V X-ray; 2.53 A; A/B=70-529 # PDB 4WV6 X-ray; 1.75 A; A=60-529 # PIR A56516 A56516 # PIRSF PIRSF005673 Importin_alpha # PROSITE PS50176 ARM_REPEAT; 5 # PROSITE PS51214 IBB # Pfam PF00514 Arm; 8 # Pfam PF01749 IBB # Pfam PF16186 Arm_3 # Proteomes UP000005640 Chromosome 17 # Reactome R-HSA-1169408 ISG15 antiviral mechanism # Reactome R-HSA-168276 NS1 Mediated Effects on Host Pathways # Reactome R-HSA-5693548 Sensing of DNA Double Strand Breaks # RecName IMA1_HUMAN Importin subunit alpha-1 # RefSeq NP_001307540 NM_001320611.1 # RefSeq NP_002257 NM_002266.3 # SIMILARITY Belongs to the importin alpha family. {ECO 0000305}. # SIMILARITY Contains 1 IBB domain. {ECO:0000255|PROSITE- ProRule PRU00561}. # SIMILARITY Contains 10 ARM repeats. {ECO:0000255|PROSITE- ProRule PRU00259}. # SMART SM00185 ARM; 8 # SUBCELLULAR LOCATION IMA1_HUMAN Cytoplasm {ECO 0000269|PubMed 7604027}. Nucleus {ECO 0000269|PubMed 7604027}. # SUBUNIT IMA1_HUMAN Heterodimer; with KPNB1. Interacts with ANP32E (By similarity). Component of a complex containing CSE1L, RAN and KPNA2. Interacts directly with CSE1L. Interacts with HIV-1 Vpr and PLAG1. Interacts with APEX1 (via N-terminus). Interacts with FRG1 (via N-terminus). Interacts with ARL4A, CTNNBL1 and NBN. Interacts with SNAI1 (via zinc fingers) and SNAI2 (via zinc fingers). {ECO 0000250, ECO 0000269|PubMed 10980193, ECO 0000269|PubMed 11882654, ECO 0000269|PubMed 15942031, ECO 0000269|PubMed 16188882, ECO 0000269|PubMed 19386897, ECO 0000269|PubMed 21385873, ECO 0000269|PubMed 21454664, ECO 0000269|PubMed 21699900, ECO 0000269|PubMed 7604027, ECO 0000269|PubMed 9323134, ECO 0000269|PubMed 9463369, ECO 0000269|PubMed 9786944}. # SUPFAM SSF48371 SSF48371 # TCDB 1.I.1.1 the nuclear pore complex (npc) family # TISSUE SPECIFICITY IMA1_HUMAN Expressed ubiquitously. # UCSC uc002jgk human # eggNOG COG5064 LUCA # eggNOG KOG0166 Eukaryota BLAST swissprot:IMA1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:IMA1_HUMAN BioCyc ZFISH:G66-32671-MONOMER http://biocyc.org/getid?id=ZFISH:G66-32671-MONOMER COXPRESdb 3838 http://coxpresdb.jp/data/gene/3838.shtml CleanEx HS_KPNA2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KPNA2 DIP DIP-6205N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-6205N DOI 10.1002/1615-9861(200202)2:2<212::AID-PROT212>3.0.CO http://dx.doi.org/10.1002/1615-9861(200202)2:2<212::AID-PROT212>3.0.CO DOI 10.1007/s004390100605 http://dx.doi.org/10.1007/s004390100605 DOI 10.1016/S0092-8674(00)80372-4 http://dx.doi.org/10.1016/S0092-8674(00)80372-4 DOI 10.1016/j.cell.2006.09.026 http://dx.doi.org/10.1016/j.cell.2006.09.026 DOI 10.1016/j.jmb.2011.06.014 http://dx.doi.org/10.1016/j.jmb.2011.06.014 DOI 10.1016/j.molcel.2008.07.007 http://dx.doi.org/10.1016/j.molcel.2008.07.007 DOI 10.1021/ac9004309 http://dx.doi.org/10.1021/ac9004309 DOI 10.1021/pr0705441 http://dx.doi.org/10.1021/pr0705441 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/20367 http://dx.doi.org/10.1038/20367 DOI 10.1038/nbt1240 http://dx.doi.org/10.1038/nbt1240 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1073/pnas.1210303109 http://dx.doi.org/10.1073/pnas.1210303109 DOI 10.1073/pnas.91.13.6156 http://dx.doi.org/10.1073/pnas.91.13.6156 DOI 10.1073/pnas.92.14.6532 http://dx.doi.org/10.1073/pnas.92.14.6532 DOI 10.1074/jbc.M002470200 http://dx.doi.org/10.1074/jbc.M002470200 DOI 10.1074/jbc.M110.208769 http://dx.doi.org/10.1074/jbc.M110.208769 DOI 10.1074/jbc.M110.213579 http://dx.doi.org/10.1074/jbc.M110.213579 DOI 10.1074/jbc.M112112200 http://dx.doi.org/10.1074/jbc.M112112200 DOI 10.1074/jbc.M508425200 http://dx.doi.org/10.1074/jbc.M508425200 DOI 10.1083/jcb.143.2.309 http://dx.doi.org/10.1083/jcb.143.2.309 DOI 10.1093/emboj/17.4.909 http://dx.doi.org/10.1093/emboj/17.4.909 DOI 10.1093/nar/gki641 http://dx.doi.org/10.1093/nar/gki641 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.7754385 http://dx.doi.org/10.1126/science.7754385 DOI 10.1126/scisignal.2000007 http://dx.doi.org/10.1126/scisignal.2000007 DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 DOI 10.1126/scisignal.2001570 http://dx.doi.org/10.1126/scisignal.2001570 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DOI 10.1242/jcs.041749 http://dx.doi.org/10.1242/jcs.041749 EMBL AJ303086 http://www.ebi.ac.uk/ena/data/view/AJ303086 EMBL BC005978 http://www.ebi.ac.uk/ena/data/view/BC005978 EMBL BC146905 http://www.ebi.ac.uk/ena/data/view/BC146905 EMBL BT006665 http://www.ebi.ac.uk/ena/data/view/BT006665 EMBL CH471099 http://www.ebi.ac.uk/ena/data/view/CH471099 EMBL U09559 http://www.ebi.ac.uk/ena/data/view/U09559 EMBL U28386 http://www.ebi.ac.uk/ena/data/view/U28386 Ensembl ENST00000330459 http://www.ensembl.org/id/ENST00000330459 Ensembl ENST00000537025 http://www.ensembl.org/id/ENST00000537025 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005643 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005643 GO_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_function GO:0008139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008139 GO_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GO_function GO:0042826 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042826 GO_function GO:0044822 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044822 GO_process GO:0000018 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000018 GO_process GO:0006259 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006259 GO_process GO:0006607 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006607 GO_process GO:0019054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019054 GO_process GO:0075733 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0075733 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0003723 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003723 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_function GO:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GOslim_process GO:0006259 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006259 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006913 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006913 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0044403 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044403 Gene3D 1.25.10.10 http://www.cathdb.info/version/latest/superfamily/1.25.10.10 GeneCards KPNA2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KPNA2 GeneID 3838 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=3838 GeneTree ENSGT00760000119094 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119094 HGNC HGNC:6395 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6395 HOGENOM HOG000167616 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000167616&db=HOGENOM6 HOVERGEN HBG001846 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG001846&db=HOVERGEN HPA CAB015460 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB015460 HPA HPA041270 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA041270 InParanoid P52292 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P52292 IntAct P52292 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P52292* InterPro IPR000225 http://www.ebi.ac.uk/interpro/entry/IPR000225 InterPro IPR002652 http://www.ebi.ac.uk/interpro/entry/IPR002652 InterPro IPR011989 http://www.ebi.ac.uk/interpro/entry/IPR011989 InterPro IPR016024 http://www.ebi.ac.uk/interpro/entry/IPR016024 InterPro IPR024931 http://www.ebi.ac.uk/interpro/entry/IPR024931 InterPro IPR032413 http://www.ebi.ac.uk/interpro/entry/IPR032413 Jabion 3838 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=3838 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko03036 http://www.genome.jp/dbget-bin/www_bget?ko03036 KEGG_Gene hsa:3838 http://www.genome.jp/dbget-bin/www_bget?hsa:3838 KEGG_Orthology KO:K15043 http://www.genome.jp/dbget-bin/www_bget?KO:K15043 KEGG_Pathway ko05164 http://www.genome.jp/kegg-bin/show_pathway?ko05164 MIM 600685 http://www.ncbi.nlm.nih.gov/omim/600685 MINT MINT-94121 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-94121 OMA IVPICIR http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=IVPICIR OrthoDB EOG091G095Z http://cegg.unige.ch/orthodb/results?searchtext=EOG091G095Z PDB 1EFX http://www.ebi.ac.uk/pdbe-srv/view/entry/1EFX PDB 1QGK http://www.ebi.ac.uk/pdbe-srv/view/entry/1QGK PDB 1QGR http://www.ebi.ac.uk/pdbe-srv/view/entry/1QGR PDB 3FEX http://www.ebi.ac.uk/pdbe-srv/view/entry/3FEX PDB 3FEY http://www.ebi.ac.uk/pdbe-srv/view/entry/3FEY PDB 3WPT http://www.ebi.ac.uk/pdbe-srv/view/entry/3WPT PDB 4E4V http://www.ebi.ac.uk/pdbe-srv/view/entry/4E4V PDB 4WV6 http://www.ebi.ac.uk/pdbe-srv/view/entry/4WV6 PDBsum 1EFX http://www.ebi.ac.uk/pdbsum/1EFX PDBsum 1QGK http://www.ebi.ac.uk/pdbsum/1QGK PDBsum 1QGR http://www.ebi.ac.uk/pdbsum/1QGR PDBsum 3FEX http://www.ebi.ac.uk/pdbsum/3FEX PDBsum 3FEY http://www.ebi.ac.uk/pdbsum/3FEY PDBsum 3WPT http://www.ebi.ac.uk/pdbsum/3WPT PDBsum 4E4V http://www.ebi.ac.uk/pdbsum/4E4V PDBsum 4WV6 http://www.ebi.ac.uk/pdbsum/4WV6 PROSITE PS50176 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50176 PROSITE PS51214 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51214 PSORT swissprot:IMA1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:IMA1_HUMAN PSORT-B swissprot:IMA1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:IMA1_HUMAN PSORT2 swissprot:IMA1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:IMA1_HUMAN Pfam PF00514 http://pfam.xfam.org/family/PF00514 Pfam PF01749 http://pfam.xfam.org/family/PF01749 Pfam PF16186 http://pfam.xfam.org/family/PF16186 PharmGKB PA30186 http://www.pharmgkb.org/do/serve?objId=PA30186&objCls=Gene Phobius swissprot:IMA1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:IMA1_HUMAN PhylomeDB P52292 http://phylomedb.org/?seqid=P52292 ProteinModelPortal P52292 http://www.proteinmodelportal.org/query/uniprot/P52292 PubMed 10353244 http://www.ncbi.nlm.nih.gov/pubmed/10353244 PubMed 10980193 http://www.ncbi.nlm.nih.gov/pubmed/10980193 PubMed 11735022 http://www.ncbi.nlm.nih.gov/pubmed/11735022 PubMed 11840567 http://www.ncbi.nlm.nih.gov/pubmed/11840567 PubMed 11882654 http://www.ncbi.nlm.nih.gov/pubmed/11882654 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15942031 http://www.ncbi.nlm.nih.gov/pubmed/15942031 PubMed 16188882 http://www.ncbi.nlm.nih.gov/pubmed/16188882 PubMed 16964243 http://www.ncbi.nlm.nih.gov/pubmed/16964243 PubMed 17081983 http://www.ncbi.nlm.nih.gov/pubmed/17081983 PubMed 18220336 http://www.ncbi.nlm.nih.gov/pubmed/18220336 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 18691976 http://www.ncbi.nlm.nih.gov/pubmed/18691976 PubMed 19386897 http://www.ncbi.nlm.nih.gov/pubmed/19386897 PubMed 19413330 http://www.ncbi.nlm.nih.gov/pubmed/19413330 PubMed 19690332 http://www.ncbi.nlm.nih.gov/pubmed/19690332 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 21385873 http://www.ncbi.nlm.nih.gov/pubmed/21385873 PubMed 21406692 http://www.ncbi.nlm.nih.gov/pubmed/21406692 PubMed 21454664 http://www.ncbi.nlm.nih.gov/pubmed/21454664 PubMed 21699900 http://www.ncbi.nlm.nih.gov/pubmed/21699900 PubMed 22814378 http://www.ncbi.nlm.nih.gov/pubmed/22814378 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 7604027 http://www.ncbi.nlm.nih.gov/pubmed/7604027 PubMed 7754385 http://www.ncbi.nlm.nih.gov/pubmed/7754385 PubMed 8016130 http://www.ncbi.nlm.nih.gov/pubmed/8016130 PubMed 8617227 http://www.ncbi.nlm.nih.gov/pubmed/8617227 PubMed 9323134 http://www.ncbi.nlm.nih.gov/pubmed/9323134 PubMed 9463369 http://www.ncbi.nlm.nih.gov/pubmed/9463369 PubMed 9786944 http://www.ncbi.nlm.nih.gov/pubmed/9786944 Reactome R-HSA-1169408 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1169408 Reactome R-HSA-168276 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-168276 Reactome R-HSA-5693548 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5693548 RefSeq NP_001307540 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001307540 RefSeq NP_002257 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_002257 SMART SM00185 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00185 SMR P52292 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P52292 STRING 9606.ENSP00000332455 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000332455&targetmode=cogs SUPFAM SSF48371 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48371 SWISS-2DPAGE P52292 http://world-2dpage.expasy.org/swiss-2dpage/protein/ac=P52292 TCDB 1.I.1.1 http://www.tcdb.org/search/result.php?tc=1.I.1.1 UCSC uc002jgk http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002jgk&org=rat UniGene Hs.594238 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.594238 UniProtKB IMA1_HUMAN http://www.uniprot.org/uniprot/IMA1_HUMAN UniProtKB-AC P52292 http://www.uniprot.org/uniprot/P52292 charge swissprot:IMA1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:IMA1_HUMAN eggNOG COG5064 http://eggnogapi.embl.de/nog_data/html/tree/COG5064 eggNOG KOG0166 http://eggnogapi.embl.de/nog_data/html/tree/KOG0166 epestfind swissprot:IMA1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:IMA1_HUMAN garnier swissprot:IMA1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:IMA1_HUMAN helixturnhelix swissprot:IMA1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:IMA1_HUMAN hmoment swissprot:IMA1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:IMA1_HUMAN iep swissprot:IMA1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:IMA1_HUMAN inforesidue swissprot:IMA1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:IMA1_HUMAN neXtProt NX_P52292 http://www.nextprot.org/db/entry/NX_P52292 octanol swissprot:IMA1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:IMA1_HUMAN pepcoil swissprot:IMA1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:IMA1_HUMAN pepdigest swissprot:IMA1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:IMA1_HUMAN pepinfo swissprot:IMA1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:IMA1_HUMAN pepnet swissprot:IMA1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:IMA1_HUMAN pepstats swissprot:IMA1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:IMA1_HUMAN pepwheel swissprot:IMA1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:IMA1_HUMAN pepwindow swissprot:IMA1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:IMA1_HUMAN sigcleave swissprot:IMA1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:IMA1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S17A9_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9BYT1-1; Sequence=Displayed; Name=2; IsoId=Q9BYT1-2; Sequence=VSP_010344; Name=3; IsoId=Q9BYT1-3; Sequence=VSP_010345, VSP_010346; Note=No experimental confirmation available.; # CCDS CCDS42901 -. [Q9BYT1-1] # CCDS CCDS77600 -. [Q9BYT1-2] # CDD cd06174 MFS # DISEASE S17A9_HUMAN Porokeratosis 8, disseminated superficial actinic type (POROK8) [MIM 616063] A form of porokeratosis, a disorder of faulty keratinization characterized by one or more atrophic patches surrounded by a distinctive hyperkeratotic ridgelike border called the cornoid lamella. The keratotic lesions can progress to overt cutaneous neoplasms, typically squamous cell carcinomas. Multiple clinical variants of porokeratosis are recognized, including porokeratosis of Mibelli, linear porokeratosis, disseminated superficial actinic porokeratosis, palmoplantar porokeratosis, and punctate porokeratosis. Disseminated superficial actinic porokeratosis (DSAP) is the most common subtype. It is characterized by multiple small, annular, anhidrotic, keratotic lesions that are located predominantly on sun-exposed areas of the skin, such as the face, neck, and distal limbs. The lesions typically begin to develop in adolescence and reach near-complete penetrance by the third or fourth decade of life. {ECO 0000269|PubMed 25180256}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000370349 ENSP00000359374; ENSG00000101194. [Q9BYT1-2] # Ensembl ENST00000370351 ENSP00000359376; ENSG00000101194. [Q9BYT1-1] # ExpressionAtlas Q9BYT1 baseline and differential # FUNCTION S17A9_HUMAN Involved in vesicular storage and exocytosis of ATP. May accumulate ATP and other nucleotides in secretory vesicles such as adrenal chromaffin granules and synaptic vesicles. {ECO 0000269|PubMed 18375752}. # GO_component GO:0016021 integral component of membrane; IBA:GO_Central. # GO_function GO:0022857 transmembrane transporter activity; IBA:GO_Central. # GO_process GO:0006820 anion transport; IBA:GO_Central. # GO_process GO:0006887 exocytosis; IEA:UniProtKB-KW. # GO_process GO:0055085 transmembrane transport; IBA:GO_Central. # GO_process GO:1903146 regulation of mitophagy; IMP:ParkinsonsUK-UCL. # GO_process GO:1903955 positive regulation of protein targeting to mitochondrion; IMP:ParkinsonsUK-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0016192 vesicle-mediated transport # GOslim_process GO:0055085 transmembrane transport # Genevisible Q9BYT1 HS # HGNC HGNC:16192 SLC17A9 # InterPro IPR005829 Sugar_transporter_CS # InterPro IPR011701 MFS # InterPro IPR020846 MFS_dom # KEGG_Brite ko02000 Transporters # KEGG_Brite ko02001 Solute carrier family # MIM 612107 gene # MIM 616063 phenotype # Organism S17A9_HUMAN Homo sapiens (Human) # Orphanet 79152 Disseminated superficial actinic porokeratosis # PROSITE PS00217 SUGAR_TRANSPORT_2 # PROSITE PS50850 MFS # Pfam PF07690 MFS_1 # Proteomes UP000005640 Chromosome 20 # RecName S17A9_HUMAN Solute carrier family 17 member 9 # RefSeq NP_001289572 NM_001302643.1 # RefSeq NP_071365 NM_022082.3 # SEQUENCE CAUTION Sequence=AAH25312.1; Type=Erroneous termination; Positions=389; Note=Translated as Leu.; Evidence={ECO:0000305}; Sequence=BAB84933.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the major facilitator superfamily. Sodium/anion cotransporter family. {ECO 0000305}. # SUBCELLULAR LOCATION S17A9_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # SUPFAM SSF103473 SSF103473 # TCDB 2.A.1.14.21 the major facilitator superfamily (mfs) # TISSUE SPECIFICITY Predominantly expressed in adrenal gland, brain and thyroid. {ECO:0000269|PubMed 18375752}. # UCSC uc002ydz human. [Q9BYT1-1] # eggNOG ENOG410IRU8 Eukaryota # eggNOG ENOG411038V LUCA BLAST swissprot:S17A9_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S17A9_HUMAN BioCyc ZFISH:ENSG00000101194-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000101194-MONOMER COXPRESdb 63910 http://coxpresdb.jp/data/gene/63910.shtml DOI 10.1038/414865a http://dx.doi.org/10.1038/414865a DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.0800141105 http://dx.doi.org/10.1073/pnas.0800141105 DOI 10.1093/dnares/10.1.49 http://dx.doi.org/10.1093/dnares/10.1.49 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1136/jmedgenet-2014-102486 http://dx.doi.org/10.1136/jmedgenet-2014-102486 EMBL AK074107 http://www.ebi.ac.uk/ena/data/view/AK074107 EMBL AK095473 http://www.ebi.ac.uk/ena/data/view/AK095473 EMBL AL121673 http://www.ebi.ac.uk/ena/data/view/AL121673 EMBL AL121673 http://www.ebi.ac.uk/ena/data/view/AL121673 EMBL BC025312 http://www.ebi.ac.uk/ena/data/view/BC025312 EMBL BC027447 http://www.ebi.ac.uk/ena/data/view/BC027447 EMBL BC038593 http://www.ebi.ac.uk/ena/data/view/BC038593 Ensembl ENST00000370349 http://www.ensembl.org/id/ENST00000370349 Ensembl ENST00000370351 http://www.ensembl.org/id/ENST00000370351 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GO_process GO:0006820 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006820 GO_process GO:0006887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006887 GO_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GO_process GO:1903146 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903146 GO_process GO:1903955 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903955 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0016192 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016192 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC17A9 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC17A9 GeneID 63910 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=63910 GeneTree ENSGT00760000119079 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119079 HGNC HGNC:16192 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:16192 HPA HPA047470 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA047470 HPA HPA056499 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA056499 InParanoid Q9BYT1 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9BYT1 IntAct Q9BYT1 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9BYT1* InterPro IPR005829 http://www.ebi.ac.uk/interpro/entry/IPR005829 InterPro IPR011701 http://www.ebi.ac.uk/interpro/entry/IPR011701 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 63910 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=63910 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:63910 http://www.genome.jp/dbget-bin/www_bget?hsa:63910 KEGG_Orthology KO:K12303 http://www.genome.jp/dbget-bin/www_bget?KO:K12303 MIM 612107 http://www.ncbi.nlm.nih.gov/omim/612107 MIM 616063 http://www.ncbi.nlm.nih.gov/omim/616063 OMA LLDWCGW http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=LLDWCGW Orphanet 79152 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=79152 OrthoDB EOG091G077E http://cegg.unige.ch/orthodb/results?searchtext=EOG091G077E PROSITE PS00217 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00217 PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PSORT swissprot:S17A9_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S17A9_HUMAN PSORT-B swissprot:S17A9_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S17A9_HUMAN PSORT2 swissprot:S17A9_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S17A9_HUMAN Pfam PF07690 http://pfam.xfam.org/family/PF07690 PharmGKB PA164725806 http://www.pharmgkb.org/do/serve?objId=PA164725806&objCls=Gene Phobius swissprot:S17A9_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S17A9_HUMAN PhylomeDB Q9BYT1 http://phylomedb.org/?seqid=Q9BYT1 ProteinModelPortal Q9BYT1 http://www.proteinmodelportal.org/query/uniprot/Q9BYT1 PubMed 11780052 http://www.ncbi.nlm.nih.gov/pubmed/11780052 PubMed 12693554 http://www.ncbi.nlm.nih.gov/pubmed/12693554 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 18375752 http://www.ncbi.nlm.nih.gov/pubmed/18375752 PubMed 25180256 http://www.ncbi.nlm.nih.gov/pubmed/25180256 RefSeq NP_001289572 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001289572 RefSeq NP_071365 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_071365 STRING 9606.ENSP00000359376 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000359376&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.1.14.21 http://www.tcdb.org/search/result.php?tc=2.A.1.14.21 UCSC uc002ydz http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002ydz&org=rat UniGene Hs.512686 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.512686 UniProtKB S17A9_HUMAN http://www.uniprot.org/uniprot/S17A9_HUMAN UniProtKB-AC Q9BYT1 http://www.uniprot.org/uniprot/Q9BYT1 charge swissprot:S17A9_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S17A9_HUMAN eggNOG ENOG410IRU8 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IRU8 eggNOG ENOG411038V http://eggnogapi.embl.de/nog_data/html/tree/ENOG411038V epestfind swissprot:S17A9_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S17A9_HUMAN garnier swissprot:S17A9_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S17A9_HUMAN helixturnhelix swissprot:S17A9_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S17A9_HUMAN hmoment swissprot:S17A9_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S17A9_HUMAN iep swissprot:S17A9_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S17A9_HUMAN inforesidue swissprot:S17A9_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S17A9_HUMAN neXtProt NX_Q9BYT1 http://www.nextprot.org/db/entry/NX_Q9BYT1 octanol swissprot:S17A9_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S17A9_HUMAN pepcoil swissprot:S17A9_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S17A9_HUMAN pepdigest swissprot:S17A9_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S17A9_HUMAN pepinfo swissprot:S17A9_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S17A9_HUMAN pepnet swissprot:S17A9_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S17A9_HUMAN pepstats swissprot:S17A9_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S17A9_HUMAN pepwheel swissprot:S17A9_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S17A9_HUMAN pepwindow swissprot:S17A9_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S17A9_HUMAN sigcleave swissprot:S17A9_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S17A9_HUMAN ## Database ID URL or Descriptions # AltName KCNKI_HUMAN TWIK-related individual potassium channel # AltName KCNKI_HUMAN TWIK-related spinal cord potassium channel # BioGrid 130759 2 # DISEASE KCNKI_HUMAN Migraine with or without aura 13 (MGR13) [MIM 613656] A form of migraine transmitted in an autosomal dominant pattern. Migraine is a disabling symptom complex of periodic headaches, usually temporal and unilateral. Headaches are often accompanied by irritability, nausea, vomiting and photophobia, preceded by constriction of the cranial arteries. The two major subtypes are common migraine (migraine without aura) and classic migraine (migraine with aura). Classic migraine is characterized by recurrent attacks of reversible neurological symptoms (aura) that precede or accompany the headache. Aura may include a combination of sensory disturbances, such as blurred vision, hallucinations, vertigo, numbness and difficulty in concentrating and speaking. {ECO 0000269|PubMed 20871611}. Note=The disease is caused by mutations affecting the gene represented in this entry. Susceptibility to migraine has been shown to be conferred by a frameshift mutation that segregates with the disorder in a large multigenerational family. Migraine was associated with sensitivity to lights, sounds, and smells, as well as nausea and occasional vomiting. Triggers included fatigue, alcohol and bright lights. Mutations in KCNK18 are a rare cause of migraine. # Ensembl ENST00000334549 ENSP00000334650; ENSG00000186795 # FUNCTION KCNKI_HUMAN Outward rectifying potassium channel. Produces rapidly activating outward rectifier K(+) currents. May function as background potassium channel that sets the resting membrane potential. Channel activity is directly activated by calcium signal. Activated by the G(q)-protein coupled receptor pathway. The calcium signal robustly activates the channel via calcineurin, whereas the anchoring of 14-3-3/YWHAH interferes with the return of the current to the resting state after activation. Inhibited also by arachidonic acid and other naturally occurring unsaturated free fatty acids. Channel activity is also enhanced by volatile anesthetics, such as isoflurane. Appears to be the primary target of hydroxy-alpha-sanshool, an ingredient of Schezuan pepper. May be involved in the somatosensory function with special respect to pain sensation (By similarity). {ECO 0000250, ECO 0000269|PubMed 12754259, ECO 0000269|PubMed 15562060}. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0005887 integral component of plasma membrane; IC:BHF-UCL. # GO_function GO:0005267 potassium channel activity; TAS:Reactome. # GO_function GO:0015269 calcium-activated potassium channel activity; IEA:Ensembl. # GO_function GO:0015271 outward rectifier potassium channel activity; IDA:BHF-UCL. # GO_function GO:0022841 potassium ion leak channel activity; IBA:GO_Central. # GO_process GO:0006813 potassium ion transport; IDA:UniProtKB. # GO_process GO:0030322 stabilization of membrane potential; IBA:GO_Central. # GO_process GO:0071435 potassium ion export; IDA:BHF-UCL. # GO_process GO:0071467 cellular response to pH; IDA:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0055085 transmembrane transport # HGNC HGNC:19439 KCNK18 # InterPro IPR003280 2pore_dom_K_chnl # InterPro IPR013099 K_chnl_dom # MIM 613655 gene # MIM 613656 phenotype # MISCELLANEOUS KCNKI_HUMAN In contrast to its mouse ortholog, it is not regulated by extracellular protons. # Organism KCNKI_HUMAN Homo sapiens (Human) # PRINTS PR01333 2POREKCHANEL # PTM KCNKI_HUMAN N-glycosylated. {ECO 0000269|PubMed 20006580}. # PTM KCNKI_HUMAN Phosphorylation of Ser-252 is required for the binding of 14- 3-3eta/YWHAH. Calcineurin-mediated dephosphorylation of Ser-264 enhances channel activity (By similarity). {ECO 0000250}. # Pfam PF07885 Ion_trans_2; 2 # Proteomes UP000005640 Chromosome 10 # Reactome R-HSA-1299344 TWIK-related spinal cord K+ channel (TRESK) # Reactome R-HSA-5576886 Phase 4 - resting membrane potential # RecName KCNKI_HUMAN Potassium channel subfamily K member 18 # RefSeq NP_862823 NM_181840.1 # SIMILARITY Belongs to the two pore domain potassium channel (TC 1.A.1.8) family. {ECO 0000305}. # SUBCELLULAR LOCATION KCNKI_HUMAN Cell membrane {ECO 0000269|PubMed 20006580}; Multi-pass membrane protein {ECO 0000269|PubMed 20006580}. # SUBUNIT Interacts with calcineurin. Interacts with YWHAH, in a phosphorylation-dependent manner. {ECO 0000250}. # TISSUE SPECIFICITY KCNKI_HUMAN Expressed specifically in dorsal root ganglion and trigeminal ganglion neurons. Detected at low levels in spinal cord. {ECO 0000269|PubMed 12754259, ECO 0000269|PubMed 15562060, ECO 0000269|PubMed 20871611}. # UCSC uc010qsr human # WEB RESOURCE KCNKI_HUMAN Name=Protein Spotlight; Note=Throb - Issue 124 of December 2010; URL="http //web.expasy.org/spotlight/back_issues/124"; # eggNOG COG1226 LUCA # eggNOG KOG1418 Eukaryota BLAST swissprot:KCNKI_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCNKI_HUMAN BioCyc ZFISH:G66-33339-MONOMER http://biocyc.org/getid?id=ZFISH:G66-33339-MONOMER COXPRESdb 338567 http://coxpresdb.jp/data/gene/338567.shtml CleanEx HS_KCNK18 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNK18 DOI 10.1016/j.bbrc.2009.12.056 http://dx.doi.org/10.1016/j.bbrc.2009.12.056 DOI 10.1038/nature02462 http://dx.doi.org/10.1038/nature02462 DOI 10.1038/nm.2216 http://dx.doi.org/10.1038/nm.2216 DOI 10.1074/jbc.M206810200 http://dx.doi.org/10.1074/jbc.M206810200 DOI 10.1113/jphysiol.2007.145649 http://dx.doi.org/10.1113/jphysiol.2007.145649 DOI 10.1213/01.ANE.0000136849.07384.44 http://dx.doi.org/10.1213/01.ANE.0000136849.07384.44 EMBL AB087138 http://www.ebi.ac.uk/ena/data/view/AB087138 EMBL AL731557 http://www.ebi.ac.uk/ena/data/view/AL731557 Ensembl ENST00000334549 http://www.ensembl.org/id/ENST00000334549 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0005267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005267 GO_function GO:0015269 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015269 GO_function GO:0015271 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015271 GO_function GO:0022841 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022841 GO_process GO:0006813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006813 GO_process GO:0030322 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030322 GO_process GO:0071435 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071435 GO_process GO:0071467 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071467 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards KCNK18 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNK18 GeneID 338567 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=338567 GeneTree ENSGT00700000104522 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00700000104522 HGNC HGNC:19439 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:19439 HOGENOM HOG000074045 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000074045&db=HOGENOM6 HOVERGEN HBG104673 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG104673&db=HOVERGEN HPA HPA044739 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA044739 InParanoid Q7Z418 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q7Z418 InterPro IPR003280 http://www.ebi.ac.uk/interpro/entry/IPR003280 InterPro IPR013099 http://www.ebi.ac.uk/interpro/entry/IPR013099 Jabion 338567 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=338567 KEGG_Gene hsa:338567 http://www.genome.jp/dbget-bin/www_bget?hsa:338567 MIM 613655 http://www.ncbi.nlm.nih.gov/omim/613655 MIM 613656 http://www.ncbi.nlm.nih.gov/omim/613656 OMA AFKLVQN http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=AFKLVQN OrthoDB EOG091G0B4G http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0B4G PRINTS PR01333 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01333 PSORT swissprot:KCNKI_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCNKI_HUMAN PSORT-B swissprot:KCNKI_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCNKI_HUMAN PSORT2 swissprot:KCNKI_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCNKI_HUMAN Pfam PF07885 http://pfam.xfam.org/family/PF07885 PharmGKB PA134985465 http://www.pharmgkb.org/do/serve?objId=PA134985465&objCls=Gene Phobius swissprot:KCNKI_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCNKI_HUMAN PhylomeDB Q7Z418 http://phylomedb.org/?seqid=Q7Z418 ProteinModelPortal Q7Z418 http://www.proteinmodelportal.org/query/uniprot/Q7Z418 PubMed 12754259 http://www.ncbi.nlm.nih.gov/pubmed/12754259 PubMed 15164054 http://www.ncbi.nlm.nih.gov/pubmed/15164054 PubMed 15562060 http://www.ncbi.nlm.nih.gov/pubmed/15562060 PubMed 17962323 http://www.ncbi.nlm.nih.gov/pubmed/17962323 PubMed 20006580 http://www.ncbi.nlm.nih.gov/pubmed/20006580 PubMed 20871611 http://www.ncbi.nlm.nih.gov/pubmed/20871611 Reactome R-HSA-1299344 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1299344 Reactome R-HSA-5576886 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576886 RefSeq NP_862823 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_862823 STRING 9606.ENSP00000334650 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000334650&targetmode=cogs UCSC uc010qsr http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc010qsr&org=rat UniGene Hs.449650 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.449650 UniProtKB KCNKI_HUMAN http://www.uniprot.org/uniprot/KCNKI_HUMAN UniProtKB-AC Q7Z418 http://www.uniprot.org/uniprot/Q7Z418 charge swissprot:KCNKI_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCNKI_HUMAN eggNOG COG1226 http://eggnogapi.embl.de/nog_data/html/tree/COG1226 eggNOG KOG1418 http://eggnogapi.embl.de/nog_data/html/tree/KOG1418 epestfind swissprot:KCNKI_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCNKI_HUMAN garnier swissprot:KCNKI_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCNKI_HUMAN helixturnhelix swissprot:KCNKI_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCNKI_HUMAN hmoment swissprot:KCNKI_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCNKI_HUMAN iep swissprot:KCNKI_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCNKI_HUMAN inforesidue swissprot:KCNKI_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCNKI_HUMAN neXtProt NX_Q7Z418 http://www.nextprot.org/db/entry/NX_Q7Z418 octanol swissprot:KCNKI_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCNKI_HUMAN pepcoil swissprot:KCNKI_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCNKI_HUMAN pepdigest swissprot:KCNKI_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCNKI_HUMAN pepinfo swissprot:KCNKI_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCNKI_HUMAN pepnet swissprot:KCNKI_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCNKI_HUMAN pepstats swissprot:KCNKI_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCNKI_HUMAN pepwheel swissprot:KCNKI_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCNKI_HUMAN pepwindow swissprot:KCNKI_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCNKI_HUMAN sigcleave swissprot:KCNKI_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCNKI_HUMAN ## Database ID URL or Descriptions # AltName S28A2_HUMAN Concentrative nucleoside transporter 2 # AltName S28A2_HUMAN Na(+)/nucleoside cotransporter 2 # AltName S28A2_HUMAN Sodium-coupled nucleoside transporter 2 # AltName S28A2_HUMAN Sodium/purine nucleoside co-transporter # AltName S28A2_HUMAN Solute carrier family 28 member 2 # DrugBank DB01033 Mercaptopurine # ENZYME REGULATION S28A2_HUMAN Inhibited by formycin B. # Ensembl ENST00000347644 ENSP00000315006; ENSG00000137860 # ExpressionAtlas O43868 baseline and differential # FUNCTION S28A2_HUMAN Sodium-dependent and purine-selective transporter. Exhibits the transport characteristics of the nucleoside transport system cif or N1 subtype (N1/cif) (selective for purine nucleosides and uridine). Plays a critical role in specific uptake and salvage of purine nucleosides in kidney and other tissues. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0016020 membrane; TAS:ProtInc. # GO_function GO:0015211 purine nucleoside transmembrane transporter activity; TAS:ProtInc. # GO_function S28A2_HUMAN GO 0005415 nucleoside sodium symporter activity; IBA GO_Central. # GO_process GO:0006139 nucleobase-containing compound metabolic process; TAS:ProtInc. # GO_process GO:0015860 purine nucleoside transmembrane transport; TAS:ProtInc. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0055085 transmembrane transport # Genevisible O43868 HS # HGNC HGNC:11002 SLC28A2 # InterPro IPR002668 CNT_N_dom # InterPro IPR008276 C_nuclsd_transpt # InterPro IPR011642 Gate_dom # InterPro IPR011657 CNT_C_dom # InterPro IPR018270 C_nuclsd_transpt_met_bac # InterPro IPR030212 CNT1/CNT2 # KEGG_Brite ko02001 Solute carrier family # MIM 606208 gene # Organism S28A2_HUMAN Homo sapiens (Human) # PANTHER PTHR10590 PTHR10590 # PANTHER PTHR10590:SF11 PTHR10590:SF11 # Pfam PF01773 Nucleos_tra2_N # Pfam PF07662 Nucleos_tra2_C # Pfam PF07670 Gate # Proteomes UP000005640 Chromosome 15 # Reactome R-HSA-83936 Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane # RecName S28A2_HUMAN Sodium/nucleoside cotransporter 2 # RefSeq NP_004203 NM_004212.3 # RefSeq XP_011520500 XM_011522198.2 # SIMILARITY Belongs to the concentrative nucleoside transporter (CNT) (TC 2.A.41) family. {ECO 0000305}. # SUBCELLULAR LOCATION S28A2_HUMAN Membrane; Multi-pass membrane protein. # TCDB 2.A.41.2 the concentrative nucleoside transporter (cnt) family # TIGRFAMs TIGR00804 nupC # TISSUE SPECIFICITY S28A2_HUMAN Expressed in heart and skeletal muscle followed by liver, kidney, intestine, pancreas, placenta and brain. Weak expression in lung. # UCSC uc001zva human # eggNOG COG1972 LUCA # eggNOG KOG3747 Eukaryota BLAST swissprot:S28A2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S28A2_HUMAN BioCyc ZFISH:ENSG00000137860-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000137860-MONOMER COXPRESdb 9153 http://coxpresdb.jp/data/gene/9153.shtml CleanEx HS_SLC28A2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC28A2 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.274.35.24475 http://dx.doi.org/10.1074/jbc.274.35.24475 DOI 10.1097/01213011-200502000-00004 http://dx.doi.org/10.1097/01213011-200502000-00004 DOI 10.1097/FPC.0b013e3281c10e41 http://dx.doi.org/10.1097/FPC.0b013e3281c10e41 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.3109/09687689709044322 http://dx.doi.org/10.3109/09687689709044322 DrugBank DB01033 http://www.drugbank.ca/drugs/DB01033 EMBL AF036109 http://www.ebi.ac.uk/ena/data/view/AF036109 EMBL AK291974 http://www.ebi.ac.uk/ena/data/view/AK291974 EMBL BC093737 http://www.ebi.ac.uk/ena/data/view/BC093737 EMBL U84392 http://www.ebi.ac.uk/ena/data/view/U84392 Ensembl ENST00000347644 http://www.ensembl.org/id/ENST00000347644 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_function GO:0005415 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005415 GO_function GO:0015211 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015211 GO_process GO:0006139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006139 GO_process GO:0015860 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015860 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC28A2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC28A2 GeneID 9153 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=9153 GeneTree ENSGT00390000016025 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000016025 HGNC HGNC:11002 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11002 HOGENOM HOG000267658 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000267658&db=HOGENOM6 HOVERGEN HBG054073 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG054073&db=HOVERGEN HPA HPA046068 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA046068 HPA HPA055623 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA055623 InParanoid O43868 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O43868 IntAct O43868 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O43868* InterPro IPR002668 http://www.ebi.ac.uk/interpro/entry/IPR002668 InterPro IPR008276 http://www.ebi.ac.uk/interpro/entry/IPR008276 InterPro IPR011642 http://www.ebi.ac.uk/interpro/entry/IPR011642 InterPro IPR011657 http://www.ebi.ac.uk/interpro/entry/IPR011657 InterPro IPR018270 http://www.ebi.ac.uk/interpro/entry/IPR018270 InterPro IPR030212 http://www.ebi.ac.uk/interpro/entry/IPR030212 Jabion 9153 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=9153 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:9153 http://www.genome.jp/dbget-bin/www_bget?hsa:9153 KEGG_Orthology KO:K11536 http://www.genome.jp/dbget-bin/www_bget?KO:K11536 MIM 606208 http://www.ncbi.nlm.nih.gov/omim/606208 OMA FCKTHAS http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=FCKTHAS OrthoDB EOG091G05D5 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G05D5 PANTHER PTHR10590 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10590 PANTHER PTHR10590:SF11 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10590:SF11 PSORT swissprot:S28A2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S28A2_HUMAN PSORT-B swissprot:S28A2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S28A2_HUMAN PSORT2 swissprot:S28A2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S28A2_HUMAN Pfam PF01773 http://pfam.xfam.org/family/PF01773 Pfam PF07662 http://pfam.xfam.org/family/PF07662 Pfam PF07670 http://pfam.xfam.org/family/PF07670 PharmGKB PA386 http://www.pharmgkb.org/do/serve?objId=PA386&objCls=Gene Phobius swissprot:S28A2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S28A2_HUMAN PhylomeDB O43868 http://phylomedb.org/?seqid=O43868 ProteinModelPortal O43868 http://www.proteinmodelportal.org/query/uniprot/O43868 PubMed 10087507 http://www.ncbi.nlm.nih.gov/pubmed/10087507 PubMed 10455109 http://www.ncbi.nlm.nih.gov/pubmed/10455109 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15861032 http://www.ncbi.nlm.nih.gov/pubmed/15861032 PubMed 17700367 http://www.ncbi.nlm.nih.gov/pubmed/17700367 PubMed 9435697 http://www.ncbi.nlm.nih.gov/pubmed/9435697 Reactome R-HSA-83936 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-83936 RefSeq NP_004203 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004203 RefSeq XP_011520500 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011520500 STRING 9606.ENSP00000315006 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000315006&targetmode=cogs TCDB 2.A.41.2 http://www.tcdb.org/search/result.php?tc=2.A.41.2 TIGRFAMs TIGR00804 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00804 UCSC uc001zva http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001zva&org=rat UniGene Hs.367833 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.367833 UniProtKB S28A2_HUMAN http://www.uniprot.org/uniprot/S28A2_HUMAN UniProtKB-AC O43868 http://www.uniprot.org/uniprot/O43868 charge swissprot:S28A2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S28A2_HUMAN eggNOG COG1972 http://eggnogapi.embl.de/nog_data/html/tree/COG1972 eggNOG KOG3747 http://eggnogapi.embl.de/nog_data/html/tree/KOG3747 epestfind swissprot:S28A2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S28A2_HUMAN garnier swissprot:S28A2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S28A2_HUMAN helixturnhelix swissprot:S28A2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S28A2_HUMAN hmoment swissprot:S28A2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S28A2_HUMAN iep swissprot:S28A2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S28A2_HUMAN inforesidue swissprot:S28A2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S28A2_HUMAN neXtProt NX_O43868 http://www.nextprot.org/db/entry/NX_O43868 octanol swissprot:S28A2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S28A2_HUMAN pepcoil swissprot:S28A2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S28A2_HUMAN pepdigest swissprot:S28A2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S28A2_HUMAN pepinfo swissprot:S28A2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S28A2_HUMAN pepnet swissprot:S28A2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S28A2_HUMAN pepstats swissprot:S28A2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S28A2_HUMAN pepwheel swissprot:S28A2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S28A2_HUMAN pepwindow swissprot:S28A2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S28A2_HUMAN sigcleave swissprot:S28A2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S28A2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS P2RX5_HUMAN Event=Alternative splicing; Named isoforms=5; Name=1; IsoId=Q93086-3; Sequence=Displayed; Name=2; Synonyms=A; IsoId=Q93086-1; Sequence=VSP_035587; Name=3; Synonyms=B; IsoId=Q93086-2; Sequence=VSP_004503, VSP_035587; Name=4; IsoId=Q93086-4; Sequence=VSP_035588; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=5; IsoId=Q93086-5; Sequence=VSP_004503; # AltName P2RX5_HUMAN ATP receptor # AltName P2RX5_HUMAN Purinergic receptor # BioGrid 111065 23 # CCDS CCDS11034 -. [Q93086-3] # CCDS CCDS11035 -. [Q93086-2] # CCDS CCDS56014 -. [Q93086-5] # CCDS CCDS56015 -. [Q93086-1] # ChiTaRS P2RX5 human # Ensembl ENST00000225328 ENSP00000225328; ENSG00000083454. [Q93086-3] # Ensembl ENST00000345901 ENSP00000342161; ENSG00000083454. [Q93086-5] # Ensembl ENST00000547178 ENSP00000448355; ENSG00000083454. [Q93086-1] # Ensembl ENST00000551178 ENSP00000447545; ENSG00000083454. [Q93086-2] # ExpressionAtlas Q93086 baseline and differential # FUNCTION P2RX5_HUMAN Receptor for ATP that acts as a ligand-gated ion channel. # GO_component GO:0005639 integral component of nuclear inner membrane; IBA:GO_Central. # GO_component GO:0005737 cytoplasm; IDA:HPA. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_function GO:0001614 purinergic nucleotide receptor activity; NAS:BHF-UCL. # GO_function GO:0004888 transmembrane signaling receptor activity; TAS:ProtInc. # GO_function GO:0004931 extracellular ATP-gated cation channel activity; NAS:BHF-UCL. # GO_function GO:0005216 ion channel activity; TAS:ProtInc. # GO_function GO:0005524 ATP binding; NAS:BHF-UCL. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0007165 signal transduction; TAS:ProtInc. # GO_process GO:0007399 nervous system development; TAS:ProtInc. # GO_process GO:0007596 blood coagulation; TAS:Reactome. # GO_process GO:0010524 positive regulation of calcium ion transport into cytosol; NAS:BHF-UCL. # GO_process GO:0033198 response to ATP; IEA:InterPro. # GO_process GO:0050850 positive regulation of calcium-mediated signaling; NAS:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0048856 anatomical structure development # Gene3D 2.60.490.10 -; 1. # Genevisible Q93086 HS # HGNC HGNC:8536 P2RX5 # IntAct Q93086 2 # InterPro IPR001429 P2X_purnocptor # InterPro IPR003048 P2X5_purnocptor # InterPro IPR027309 P2X_extracellular_dom # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04020 Calcium signaling pathway # KEGG_Pathway ko04080 Neuroactive ligand-receptor interaction # MIM 602836 gene # Organism P2RX5_HUMAN Homo sapiens (Human) # PANTHER PTHR10125 PTHR10125 # PANTHER PTHR10125:SF12 PTHR10125:SF12 # PRINTS PR01307 P2XRECEPTOR # PRINTS PR01312 P2X5RECEPTOR # PROSITE PS01212 P2X_RECEPTOR # Pfam PF00864 P2X_receptor # Proteomes UP000005640 Chromosome 17 # Reactome R-HSA-139853 Elevation of cytosolic Ca2+ levels # Reactome R-HSA-418346 Platelet homeostasis # RecName P2RX5_HUMAN P2X purinoceptor 5 # RefSeq NP_001191448 NM_001204519.1. [Q93086-1] # RefSeq NP_001191449 NM_001204520.1. [Q93086-5] # RefSeq NP_002552 NM_002561.3. [Q93086-3] # RefSeq NP_778255 NM_175080.2. [Q93086-2] # SEQUENCE CAUTION P2RX5_HUMAN Sequence=AAF43106.1; Type=Erroneous gene model prediction; Evidence={ECO 0000305}; Sequence=AK307959; Type=Frameshift; Positions=112; Evidence={ECO 0000305}; Sequence=BAD92860.1; Type=Frameshift; Positions=112; Evidence={ECO 0000305}; Sequence=BC028084; Type=Frameshift; Positions=112; Evidence={ECO 0000305}; # SIMILARITY Belongs to the P2X receptor family. {ECO 0000305}. # SUBCELLULAR LOCATION P2RX5_HUMAN Membrane; Multi-pass membrane protein. # SUBUNIT Functional P2XRs are organized as homomeric and heteromeric trimers. {ECO 0000250}. # TIGRFAMs TIGR00863 P2X # TISSUE SPECIFICITY P2RX5_HUMAN Expressed at high levels in brain and immune system. # UCSC uc002fwi human. [Q93086-3] # WEB RESOURCE P2RX5_HUMAN Name=Wikipedia; Note=P2X receptor entry; URL="https //en.wikipedia.org/wiki/P2X_receptor"; # eggNOG ENOG410IFJF Eukaryota # eggNOG ENOG410XR0C LUCA BLAST swissprot:P2RX5_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:P2RX5_HUMAN BioCyc ZFISH:ENSG00000083454-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000083454-MONOMER COXPRESdb 5026 http://coxpresdb.jp/data/gene/5026.shtml CleanEx HS_P2RX5 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_P2RX5 DOI 10.1016/S0014-5793(97)01380-X http://dx.doi.org/10.1016/S0014-5793(97)01380-X DOI 10.1038/nature04689 http://dx.doi.org/10.1038/nature04689 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.10.2.165 http://dx.doi.org/10.1101/gr.10.2.165 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AB209623 http://www.ebi.ac.uk/ena/data/view/AB209623 EMBL AC132942 http://www.ebi.ac.uk/ena/data/view/AC132942 EMBL AF016709 http://www.ebi.ac.uk/ena/data/view/AF016709 EMBL AF070573 http://www.ebi.ac.uk/ena/data/view/AF070573 EMBL AF168787 http://www.ebi.ac.uk/ena/data/view/AF168787 EMBL AF168787 http://www.ebi.ac.uk/ena/data/view/AF168787 EMBL AK290889 http://www.ebi.ac.uk/ena/data/view/AK290889 EMBL AK307959 http://www.ebi.ac.uk/ena/data/view/AK307959 EMBL BC028084 http://www.ebi.ac.uk/ena/data/view/BC028084 EMBL BC039015 http://www.ebi.ac.uk/ena/data/view/BC039015 EMBL CH471108 http://www.ebi.ac.uk/ena/data/view/CH471108 EMBL DQ234349 http://www.ebi.ac.uk/ena/data/view/DQ234349 EMBL U49395 http://www.ebi.ac.uk/ena/data/view/U49395 EMBL U49396 http://www.ebi.ac.uk/ena/data/view/U49396 Ensembl ENST00000225328 http://www.ensembl.org/id/ENST00000225328 Ensembl ENST00000345901 http://www.ensembl.org/id/ENST00000345901 Ensembl ENST00000547178 http://www.ensembl.org/id/ENST00000547178 Ensembl ENST00000551178 http://www.ensembl.org/id/ENST00000551178 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005639 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005639 GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0001614 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001614 GO_function GO:0004888 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004888 GO_function GO:0004931 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004931 GO_function GO:0005216 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005216 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GO_process GO:0007399 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007399 GO_process GO:0007596 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007596 GO_process GO:0010524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010524 GO_process GO:0033198 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033198 GO_process GO:0050850 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050850 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 Gene3D 2.60.490.10 http://www.cathdb.info/version/latest/superfamily/2.60.490.10 GeneCards P2RX5 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=P2RX5 GeneID 5026 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=5026 GeneTree ENSGT00390000016028 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000016028 HGNC HGNC:8536 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:8536 HOGENOM HOG000232042 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000232042&db=HOGENOM6 HOVERGEN HBG053086 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG053086&db=HOVERGEN HPA HPA021948 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA021948 HPA HPA067827 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA067827 InParanoid Q93086 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q93086 IntAct Q93086 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q93086* InterPro IPR001429 http://www.ebi.ac.uk/interpro/entry/IPR001429 InterPro IPR003048 http://www.ebi.ac.uk/interpro/entry/IPR003048 InterPro IPR027309 http://www.ebi.ac.uk/interpro/entry/IPR027309 Jabion 5026 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=5026 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:5026 http://www.genome.jp/dbget-bin/www_bget?hsa:5026 KEGG_Orthology KO:K05219 http://www.genome.jp/dbget-bin/www_bget?KO:K05219 KEGG_Pathway ko04020 http://www.genome.jp/kegg-bin/show_pathway?ko04020 KEGG_Pathway ko04080 http://www.genome.jp/kegg-bin/show_pathway?ko04080 MIM 602836 http://www.ncbi.nlm.nih.gov/omim/602836 OMA AGAFFCD http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=AGAFFCD PANTHER PTHR10125 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10125 PANTHER PTHR10125:SF12 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10125:SF12 PRINTS PR01307 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01307 PRINTS PR01312 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01312 PROSITE PS01212 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS01212 PSORT swissprot:P2RX5_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:P2RX5_HUMAN PSORT-B swissprot:P2RX5_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:P2RX5_HUMAN PSORT2 swissprot:P2RX5_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:P2RX5_HUMAN Pfam PF00864 http://pfam.xfam.org/family/PF00864 PharmGKB PA32865 http://www.pharmgkb.org/do/serve?objId=PA32865&objCls=Gene Phobius swissprot:P2RX5_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:P2RX5_HUMAN PhylomeDB Q93086 http://phylomedb.org/?seqid=Q93086 ProteinModelPortal Q93086 http://www.proteinmodelportal.org/query/uniprot/Q93086 PubMed 10673275 http://www.ncbi.nlm.nih.gov/pubmed/10673275 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16625196 http://www.ncbi.nlm.nih.gov/pubmed/16625196 PubMed 9414125 http://www.ncbi.nlm.nih.gov/pubmed/9414125 Reactome R-HSA-139853 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-139853 Reactome R-HSA-418346 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-418346 RefSeq NP_001191448 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001191448 RefSeq NP_001191449 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001191449 RefSeq NP_002552 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_002552 RefSeq NP_778255 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_778255 SMR Q93086 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q93086 STRING 9606.ENSP00000225328 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000225328&targetmode=cogs TIGRFAMs TIGR00863 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00863 UCSC uc002fwi http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002fwi&org=rat UniGene Hs.731607 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.731607 UniProtKB P2RX5_HUMAN http://www.uniprot.org/uniprot/P2RX5_HUMAN UniProtKB-AC Q93086 http://www.uniprot.org/uniprot/Q93086 charge swissprot:P2RX5_HUMAN http://rest.g-language.org/emboss/charge/swissprot:P2RX5_HUMAN eggNOG ENOG410IFJF http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IFJF eggNOG ENOG410XR0C http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XR0C epestfind swissprot:P2RX5_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:P2RX5_HUMAN garnier swissprot:P2RX5_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:P2RX5_HUMAN helixturnhelix swissprot:P2RX5_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:P2RX5_HUMAN hmoment swissprot:P2RX5_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:P2RX5_HUMAN iep swissprot:P2RX5_HUMAN http://rest.g-language.org/emboss/iep/swissprot:P2RX5_HUMAN inforesidue swissprot:P2RX5_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:P2RX5_HUMAN neXtProt NX_Q93086 http://www.nextprot.org/db/entry/NX_Q93086 octanol swissprot:P2RX5_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:P2RX5_HUMAN pepcoil swissprot:P2RX5_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:P2RX5_HUMAN pepdigest swissprot:P2RX5_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:P2RX5_HUMAN pepinfo swissprot:P2RX5_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:P2RX5_HUMAN pepnet swissprot:P2RX5_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:P2RX5_HUMAN pepstats swissprot:P2RX5_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:P2RX5_HUMAN pepwheel swissprot:P2RX5_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:P2RX5_HUMAN pepwindow swissprot:P2RX5_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:P2RX5_HUMAN sigcleave swissprot:P2RX5_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:P2RX5_HUMAN ## Database ID URL or Descriptions # AltName ADT2_HUMAN ADP,ATP carrier protein 2 # AltName ADT2_HUMAN ADP,ATP carrier protein, fibroblast isoform # AltName ADT2_HUMAN Adenine nucleotide translocator 2 # AltName ADT2_HUMAN Solute carrier family 25 member 5 # AltName ADT2_HUMAN Solute carrier family 25 member 5 # BioGrid 106789 131 # ChiTaRS SLC25A5 human # DrugBank DB00720 Clodronate # Ensembl ENST00000317881 ENSP00000360671; ENSG00000005022 # FUNCTION ADT2_HUMAN Catalyzes the exchange of cytoplasmic ADP with mitochondrial ATP across the mitochondrial inner membrane. As part of the mitotic spindle-associated MMXD complex it may play a role in chromosome segregation. {ECO 0000269|PubMed 20797633}. # GO_component GO:0005634 nucleus; IDA:UniProtKB. # GO_component GO:0005739 mitochondrion; IDA:UniProtKB. # GO_component GO:0005743 mitochondrial inner membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0031012 extracellular matrix; IDA:BHF-UCL. # GO_component GO:0042645 mitochondrial nucleoid; IDA:BHF-UCL. # GO_component GO:0043209 myelin sheath; IEA:Ensembl. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_component GO:0071817 MMXD complex; IDA:UniProtKB. # GO_function GO:0015207 adenine transmembrane transporter activity; TAS:Reactome. # GO_function GO:0031625 ubiquitin protein ligase binding; IPI:ParkinsonsUK-UCL. # GO_function GO:0044822 poly(A) RNA binding; IDA:UniProtKB. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0007059 chromosome segregation; IEA:UniProtKB-KW. # GO_process GO:0008284 positive regulation of cell proliferation; IMP:UniProtKB. # GO_process GO:0016032 viral process; IEA:UniProtKB-KW. # GO_process GO:0050796 regulation of insulin secretion; TAS:Reactome. # GO_process GO:1901029 negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway; IMP:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005739 mitochondrion # GOslim_component GO:0043226 organelle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003723 RNA binding # GOslim_function GO:0019899 enzyme binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007005 mitochondrion organization # GOslim_process GO:0007059 chromosome segregation # GOslim_process GO:0008150 biological_process # GOslim_process GO:0044403 symbiosis, encompassing mutualism through parasitism # GOslim_process GO:0061024 membrane organization # Gene3D 1.50.40.10 -; 1. # Genevisible P05141 HS # HGNC HGNC:10991 SLC25A5 # INTERACTION ADT2_HUMAN Q5S007 LRRK2; NbExp=2; IntAct=EBI-355133, EBI-5323863; Q9Y6E7 SIRT4; NbExp=2; IntAct=EBI-355133, EBI-2606540; Q8N357 SLC35F6; NbExp=2; IntAct=EBI-355133, EBI-713484; # IntAct P05141 81 # InterPro IPR002067 Mit_carrier # InterPro IPR002113 Aden_trnslctor # InterPro IPR018108 Mitochondrial_sb/sol_carrier # InterPro IPR023395 Mt_carrier_dom # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02001 Solute carrier family # KEGG_Pathway ko04020 Calcium signaling pathway # KEGG_Pathway ko05012 Parkinson's disease # KEGG_Pathway ko05016 Huntington's disease # KEGG_Pathway ko05166 HTLV-I infection # MIM 300150 gene # MISCELLANEOUS The transmembrane helices are not perpendicular to the plane of the membrane, but cross the membrane at an angle. Odd-numbered transmembrane helices exhibit a sharp kink, due to the presence of a conserved proline residue (By similarity). {ECO 0000250}. # Organism ADT2_HUMAN Homo sapiens (Human) # PIR A29132 A29132 # PRINTS PR00926 MITOCARRIER # PRINTS PR00927 ADPTRNSLCASE # PROSITE PS50920 SOLCAR; 3 # Pfam PF00153 Mito_carr; 3 # Proteomes UP000005640 Chromosome X # Reactome R-HSA-180897 Vpr-mediated induction of apoptosis by mitochondrial outer membrane permeabilization # Reactome R-HSA-422356 Regulation of insulin secretion # RecName ADT2_HUMAN ADP/ATP translocase 2 # RecName ADT2_HUMAN ADP/ATP translocase 2, N-terminally processed # RefSeq NP_001143 NM_001152.4 # SIMILARITY Belongs to the mitochondrial carrier (TC 2.A.29) family. {ECO 0000305}. # SIMILARITY Contains 3 Solcar repeats. {ECO:0000255|PROSITE- ProRule PRU00282}. # SUBCELLULAR LOCATION ADT2_HUMAN Mitochondrion inner membrane; Multi-pass membrane protein. # SUBUNIT ADT2_HUMAN Homodimer. Component of the MMXD complex, which includes CIAO1, ERCC2, FAM96B, MMS19 and SLC25A5. Interacts with HIV-1 Vpr. {ECO 0000269|PubMed 16120388, ECO 0000269|PubMed 20797633}. # SUPFAM SSF103506 SSF103506 # TCDB 2.A.29.1 the mitochondrial carrier (mc) family # UCSC uc004erh human # eggNOG ENOG410XNW0 LUCA # eggNOG KOG0749 Eukaryota BLAST swissprot:ADT2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ADT2_HUMAN BioCyc ZFISH:ENSG00000005022-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000005022-MONOMER COXPRESdb 292 http://coxpresdb.jp/data/gene/292.shtml CleanEx HS_SLC25A5 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC25A5 DIP DIP-33873N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-33873N DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1016/j.mito.2004.06.012 http://dx.doi.org/10.1016/j.mito.2004.06.012 DOI 10.1016/j.molcel.2010.07.029 http://dx.doi.org/10.1016/j.molcel.2010.07.029 DOI 10.1021/ac9004309 http://dx.doi.org/10.1021/ac9004309 DOI 10.1038/nature03440 http://dx.doi.org/10.1038/nature03440 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.85.2.377 http://dx.doi.org/10.1073/pnas.85.2.377 DOI 10.1074/mcp.M111.012658 http://dx.doi.org/10.1074/mcp.M111.012658 DOI 10.1074/mcp.M111.015131 http://dx.doi.org/10.1074/mcp.M111.015131 DOI 10.1074/mcp.O113.027870 http://dx.doi.org/10.1074/mcp.O113.027870 DOI 10.1093/nar/24.20.4034 http://dx.doi.org/10.1093/nar/24.20.4034 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1175371 http://dx.doi.org/10.1126/science.1175371 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DrugBank DB00720 http://www.drugbank.ca/drugs/DB00720 EMBL AC004000 http://www.ebi.ac.uk/ena/data/view/AC004000 EMBL AK315292 http://www.ebi.ac.uk/ena/data/view/AK315292 EMBL BC056160 http://www.ebi.ac.uk/ena/data/view/BC056160 EMBL J02683 http://www.ebi.ac.uk/ena/data/view/J02683 EMBL J03591 http://www.ebi.ac.uk/ena/data/view/J03591 EMBL L78810 http://www.ebi.ac.uk/ena/data/view/L78810 EMBL M57424 http://www.ebi.ac.uk/ena/data/view/M57424 Ensembl ENST00000317881 http://www.ensembl.org/id/ENST00000317881 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0031012 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031012 GO_component GO:0042645 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042645 GO_component GO:0043209 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043209 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_component GO:0071817 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071817 GO_function GO:0015207 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015207 GO_function GO:0031625 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031625 GO_function GO:0044822 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044822 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0007059 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007059 GO_process GO:0008284 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008284 GO_process GO:0016032 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016032 GO_process GO:0050796 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050796 GO_process GO:1901029 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1901029 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003723 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003723 GOslim_function GO:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007005 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007005 GOslim_process GO:0007059 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007059 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0044403 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044403 GOslim_process GO:0061024 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061024 Gene3D 1.50.40.10 http://www.cathdb.info/version/latest/superfamily/1.50.40.10 GeneCards SLC25A5 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC25A5 GeneID 292 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=292 GeneTree ENSGT00390000011543 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000011543 H-InvDB HIX0028379 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0028379 HGNC HGNC:10991 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10991 HOVERGEN HBG108348 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG108348&db=HOVERGEN HPA HPA060665 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA060665 InParanoid P05141 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P05141 IntAct P05141 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P05141* InterPro IPR002067 http://www.ebi.ac.uk/interpro/entry/IPR002067 InterPro IPR002113 http://www.ebi.ac.uk/interpro/entry/IPR002113 InterPro IPR018108 http://www.ebi.ac.uk/interpro/entry/IPR018108 InterPro IPR023395 http://www.ebi.ac.uk/interpro/entry/IPR023395 Jabion 292 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=292 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:292 http://www.genome.jp/dbget-bin/www_bget?hsa:292 KEGG_Orthology KO:K05863 http://www.genome.jp/dbget-bin/www_bget?KO:K05863 KEGG_Pathway ko04020 http://www.genome.jp/kegg-bin/show_pathway?ko04020 KEGG_Pathway ko05012 http://www.genome.jp/kegg-bin/show_pathway?ko05012 KEGG_Pathway ko05016 http://www.genome.jp/kegg-bin/show_pathway?ko05016 KEGG_Pathway ko05166 http://www.genome.jp/kegg-bin/show_pathway?ko05166 MIM 300150 http://www.ncbi.nlm.nih.gov/omim/300150 MINT MINT-1162449 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1162449 OMA CFARTYK http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=CFARTYK OrthoDB EOG091G0ULB http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0ULB PRINTS PR00926 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00926 PRINTS PR00927 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00927 PROSITE PS50920 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50920 PSORT swissprot:ADT2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ADT2_HUMAN PSORT-B swissprot:ADT2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ADT2_HUMAN PSORT2 swissprot:ADT2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ADT2_HUMAN Pfam PF00153 http://pfam.xfam.org/family/PF00153 PharmGKB PA35867 http://www.pharmgkb.org/do/serve?objId=PA35867&objCls=Gene Phobius swissprot:ADT2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ADT2_HUMAN PhylomeDB P05141 http://phylomedb.org/?seqid=P05141 ProteinModelPortal P05141 http://www.proteinmodelportal.org/query/uniprot/P05141 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15772651 http://www.ncbi.nlm.nih.gov/pubmed/15772651 PubMed 16120388 http://www.ncbi.nlm.nih.gov/pubmed/16120388 PubMed 19413330 http://www.ncbi.nlm.nih.gov/pubmed/19413330 PubMed 19608861 http://www.ncbi.nlm.nih.gov/pubmed/19608861 PubMed 20797633 http://www.ncbi.nlm.nih.gov/pubmed/20797633 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 2168878 http://www.ncbi.nlm.nih.gov/pubmed/2168878 PubMed 21908771 http://www.ncbi.nlm.nih.gov/pubmed/21908771 PubMed 22223895 http://www.ncbi.nlm.nih.gov/pubmed/22223895 PubMed 24129315 http://www.ncbi.nlm.nih.gov/pubmed/24129315 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 2829183 http://www.ncbi.nlm.nih.gov/pubmed/2829183 PubMed 3031073 http://www.ncbi.nlm.nih.gov/pubmed/3031073 PubMed 8918809 http://www.ncbi.nlm.nih.gov/pubmed/8918809 Reactome R-HSA-180897 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-180897 Reactome R-HSA-422356 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-422356 RefSeq NP_001143 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001143 SMR P05141 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P05141 STRING 9606.ENSP00000360671 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000360671&targetmode=cogs SUPFAM SSF103506 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103506 TCDB 2.A.29.1 http://www.tcdb.org/search/result.php?tc=2.A.29.1 UCSC uc004erh http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc004erh&org=rat UniGene Hs.632282 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.632282 UniProtKB ADT2_HUMAN http://www.uniprot.org/uniprot/ADT2_HUMAN UniProtKB-AC P05141 http://www.uniprot.org/uniprot/P05141 charge swissprot:ADT2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ADT2_HUMAN eggNOG ENOG410XNW0 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XNW0 eggNOG KOG0749 http://eggnogapi.embl.de/nog_data/html/tree/KOG0749 epestfind swissprot:ADT2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ADT2_HUMAN garnier swissprot:ADT2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ADT2_HUMAN helixturnhelix swissprot:ADT2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ADT2_HUMAN hmoment swissprot:ADT2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ADT2_HUMAN iep swissprot:ADT2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ADT2_HUMAN inforesidue swissprot:ADT2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ADT2_HUMAN neXtProt NX_P05141 http://www.nextprot.org/db/entry/NX_P05141 octanol swissprot:ADT2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ADT2_HUMAN pepcoil swissprot:ADT2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ADT2_HUMAN pepdigest swissprot:ADT2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ADT2_HUMAN pepinfo swissprot:ADT2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ADT2_HUMAN pepnet swissprot:ADT2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ADT2_HUMAN pepstats swissprot:ADT2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ADT2_HUMAN pepwheel swissprot:ADT2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ADT2_HUMAN pepwindow swissprot:ADT2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ADT2_HUMAN sigcleave swissprot:ADT2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ADT2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S26A5_HUMAN Event=Alternative splicing; Named isoforms=6; Name=1; Synonyms=SLC26A5a; IsoId=P58743-1; Sequence=Displayed; Name=2; Synonyms=SLC26A5b; IsoId=P58743-2; Sequence=VSP_010194, VSP_010195; Name=3; Synonyms=SLC26A5c; IsoId=P58743-3; Sequence=VSP_010192, VSP_010193; Name=4; Synonyms=SLC26A5d; IsoId=P58743-4; Sequence=VSP_010190, VSP_010191; Name=5; IsoId=P58743-5; Sequence=VSP_043153; Note=No experimental confirmation available.; Name=6; IsoId=P58743-6; Sequence=VSP_043153, VSP_047640; # AltName S26A5_HUMAN Solute carrier family 26 member 5 # CCDS CCDS43629 -. [P58743-3] # CCDS CCDS43630 -. [P58743-2] # CCDS CCDS55150 -. [P58743-5] # CCDS CCDS5732 -. [P58743-4] # CCDS CCDS5733 -. [P58743-1] # DISEASE S26A5_HUMAN Deafness, autosomal recessive, 61 (DFNB61) [MIM 613865] A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO 0000269|PubMed 12719379}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000306312 ENSP00000304783; ENSG00000170615. [P58743-1] # Ensembl ENST00000339444 ENSP00000342396; ENSG00000170615. [P58743-2] # Ensembl ENST00000356767 ENSP00000349210; ENSG00000170615. [P58743-4] # Ensembl ENST00000393723 ENSP00000377324; ENSG00000170615. [P58743-6] # Ensembl ENST00000393730 ENSP00000377331; ENSG00000170615. [P58743-5] # Ensembl ENST00000393735 ENSP00000377336; ENSG00000170615. [P58743-3] # Ensembl ENST00000432958 ENSP00000389733; ENSG00000170615. [P58743-5] # ExpressionAtlas P58743 baseline and differential # FUNCTION S26A5_HUMAN Motor protein that converts auditory stimuli to length changes in outer hair cells and mediates sound amplification in the mammalian hearing organ. Prestin is a bidirectional voltage- to-force converter, it can operate at microsecond rates. It uses cytoplasmic anions as extrinsic voltage sensors, probably chloride and bicarbonate. After binding to a site with millimolar affinity, these anions are translocated across the membrane in response to changes in the transmembrane voltage. They move towards the extracellular surface following hyperpolarization, and towards the cytoplasmic side in response to depolarization. As a consequence, this translocation triggers conformational changes in the protein that ultimately alter its surface area in the plane of the plasma membrane. The area decreases when the anion is near the cytoplasmic face of the membrane (short state), and increases when the ion has crossed the membrane to the outer surface (long state). So, it acts as an incomplete transporter. It swings anions across the membrane, but does not allow these anions to dissociate and escape to the extracellular space. Salicylate, an inhibitor of outer hair cell motility, acts as competitive antagonist at the prestin anion-binding site (By similarity). {ECO 0000250}. # GO_component GO:0005737 cytoplasm; IEA:Ensembl. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0016323 basolateral plasma membrane; IEA:Ensembl. # GO_component GO:0016328 lateral plasma membrane; IEA:Ensembl. # GO_function GO:0005254 chloride channel activity; IBA:GO_Central. # GO_function GO:0008271 secondary active sulfate transmembrane transporter activity; IEA:InterPro. # GO_function GO:0015106 bicarbonate transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015116 sulfate transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0019531 oxalate transmembrane transporter activity; IBA:GO_Central. # GO_function S26A5_HUMAN GO 0015301 anion anion antiporter activity; IBA GO_Central. # GO_process GO:0002931 response to ischemia; IEA:Ensembl. # GO_process GO:0007605 sensory perception of sound; IMP:UniProtKB. # GO_process GO:0008360 regulation of cell shape; IEA:UniProtKB-KW. # GO_process GO:0009751 response to salicylic acid; IEA:Ensembl. # GO_process GO:0010996 response to auditory stimulus; IEA:Ensembl. # GO_process GO:0015701 bicarbonate transport; IBA:GO_Central. # GO_process GO:0015755 fructose transport; IEA:Ensembl. # GO_process GO:0034766 negative regulation of ion transmembrane transport; IEA:Ensembl. # GO_process GO:0035864 response to potassium ion; IEA:Ensembl. # GO_process GO:0042391 regulation of membrane potential; IBA:GO_Central. # GO_process GO:0042493 response to drug; IEA:Ensembl. # GO_process GO:0045793 positive regulation of cell size; IEA:Ensembl. # GO_process GO:0051262 protein tetramerization; IEA:Ensembl. # GO_process GO:0051453 regulation of intracellular pH; IBA:GO_Central. # GO_process GO:0090102 cochlea development; IEA:Ensembl. # GO_process GO:0097066 response to thyroid hormone; IEA:Ensembl. # GO_process GO:1902074 response to salt; IEA:Ensembl. # GO_process GO:1902476 chloride transmembrane transport; IBA:GO_Central. # GO_process GO:2000147 positive regulation of cell motility; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0050877 neurological system process # GOslim_process GO:0055085 transmembrane transport # Gene3D 3.30.750.24 -; 2. # HGNC HGNC:9359 SLC26A5 # InterPro IPR001902 SLC26A/SulP_fam # InterPro IPR002645 STAS_dom # InterPro IPR011547 SLC26A/SulP_dom # InterPro IPR018045 S04_transporter_CS # InterPro IPR030282 Prestin # KEGG_Brite ko02001 Solute carrier family # KEGG_Disease H00605 [Nervous system disease; Nervous system disease] Deafness, autosomal recessive # MIM 604943 gene # MIM 613865 phenotype # Organism S26A5_HUMAN Homo sapiens (Human) # Orphanet 90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB # PANTHER PTHR11814 PTHR11814; 2 # PANTHER PTHR11814:SF32 PTHR11814:SF32; 2 # PROSITE PS01130 SLC26A # PROSITE PS50801 STAS # Pfam PF00916 Sulfate_transp # Pfam PF01740 STAS # Proteomes UP000005640 Chromosome 7 # RecName S26A5_HUMAN Prestin # RefSeq NP_001161434 NM_001167962.1. [P58743-5] # RefSeq NP_001308716 NM_001321787.1 # RefSeq NP_945350 NM_198999.2. [P58743-1] # RefSeq NP_996766 NM_206883.2. [P58743-2] # RefSeq NP_996767 NM_206884.2. [P58743-3] # RefSeq NP_996768 NM_206885.2. [P58743-4] # RefSeq XP_011514472 XM_011516170.2. [P58743-1] # SIMILARITY Belongs to the SLC26A/SulP transporter (TC 2.A.53) family. {ECO 0000305}. # SIMILARITY Contains 1 STAS domain. {ECO:0000255|PROSITE- ProRule PRU00198}. # SUBCELLULAR LOCATION S26A5_HUMAN Cell membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. Note=Lateral wall of outer hair cells. {ECO 0000250}. # SUPFAM SSF52091 SSF52091; 2 # TCDB 2.A.53.2.19 the sulfate permease (sulp) family # TIGRFAMs TIGR00815 sulP # UCSC uc003vbt human. [P58743-1] # WEB RESOURCE S26A5_HUMAN Name=Protein Spotlight; Note=Pump up the volume - Issue 22 of May 2002; URL="http //web.expasy.org/spotlight/back_issues/022"; # eggNOG COG0659 LUCA # eggNOG KOG0236 Eukaryota BLAST swissprot:S26A5_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S26A5_HUMAN BioCyc ZFISH:ENSG00000170615-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000170615-MONOMER COXPRESdb 375611 http://coxpresdb.jp/data/gene/375611.shtml CleanEx HS_SLC26A5 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC26A5 DOI 10.1038/nature01782 http://dx.doi.org/10.1038/nature01782 DOI 10.1093/hmg/ddg127 http://dx.doi.org/10.1093/hmg/ddg127 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AC004668 http://www.ebi.ac.uk/ena/data/view/AC004668 EMBL AC005064 http://www.ebi.ac.uk/ena/data/view/AC005064 EMBL AC093701 http://www.ebi.ac.uk/ena/data/view/AC093701 EMBL AF523354 http://www.ebi.ac.uk/ena/data/view/AF523354 EMBL AY256823 http://www.ebi.ac.uk/ena/data/view/AY256823 EMBL AY256824 http://www.ebi.ac.uk/ena/data/view/AY256824 EMBL AY256825 http://www.ebi.ac.uk/ena/data/view/AY256825 EMBL AY289134 http://www.ebi.ac.uk/ena/data/view/AY289134 EMBL BC100833 http://www.ebi.ac.uk/ena/data/view/BC100833 Ensembl ENST00000306312 http://www.ensembl.org/id/ENST00000306312 Ensembl ENST00000339444 http://www.ensembl.org/id/ENST00000339444 Ensembl ENST00000356767 http://www.ensembl.org/id/ENST00000356767 Ensembl ENST00000393723 http://www.ensembl.org/id/ENST00000393723 Ensembl ENST00000393730 http://www.ensembl.org/id/ENST00000393730 Ensembl ENST00000393735 http://www.ensembl.org/id/ENST00000393735 Ensembl ENST00000432958 http://www.ensembl.org/id/ENST00000432958 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016323 GO_component GO:0016328 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016328 GO_function GO:0005254 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005254 GO_function GO:0008271 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008271 GO_function GO:0015106 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015106 GO_function GO:0015116 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015116 GO_function GO:0015301 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015301 GO_function GO:0019531 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019531 GO_process GO:0002931 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002931 GO_process GO:0007605 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007605 GO_process GO:0008360 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008360 GO_process GO:0009751 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009751 GO_process GO:0010996 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010996 GO_process GO:0015701 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015701 GO_process GO:0015755 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015755 GO_process GO:0034766 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034766 GO_process GO:0035864 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035864 GO_process GO:0042391 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042391 GO_process GO:0042493 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042493 GO_process GO:0045793 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045793 GO_process GO:0051262 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051262 GO_process GO:0051453 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051453 GO_process GO:0090102 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090102 GO_process GO:0097066 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097066 GO_process GO:1902074 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902074 GO_process GO:1902476 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902476 GO_process GO:2000147 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000147 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 3.30.750.24 http://www.cathdb.info/version/latest/superfamily/3.30.750.24 GeneCards SLC26A5 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC26A5 GeneID 375611 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=375611 GeneTree ENSGT00760000119026 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119026 HGNC HGNC:9359 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:9359 HOGENOM HOG000006546 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000006546&db=HOGENOM6 HOVERGEN HBG000639 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG000639&db=HOVERGEN InParanoid P58743 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P58743 InterPro IPR001902 http://www.ebi.ac.uk/interpro/entry/IPR001902 InterPro IPR002645 http://www.ebi.ac.uk/interpro/entry/IPR002645 InterPro IPR011547 http://www.ebi.ac.uk/interpro/entry/IPR011547 InterPro IPR018045 http://www.ebi.ac.uk/interpro/entry/IPR018045 InterPro IPR030282 http://www.ebi.ac.uk/interpro/entry/IPR030282 Jabion 375611 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=375611 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Disease H00605 http://www.genome.jp/dbget-bin/www_bget?H00605 KEGG_Gene hsa:375611 http://www.genome.jp/dbget-bin/www_bget?hsa:375611 KEGG_Orthology KO:K14703 http://www.genome.jp/dbget-bin/www_bget?KO:K14703 MIM 604943 http://www.ncbi.nlm.nih.gov/omim/604943 MIM 613865 http://www.ncbi.nlm.nih.gov/omim/613865 Orphanet 90636 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=90636 PANTHER PTHR11814 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11814 PANTHER PTHR11814:SF32 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11814:SF32 PROSITE PS01130 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS01130 PROSITE PS50801 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50801 PSORT swissprot:S26A5_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S26A5_HUMAN PSORT-B swissprot:S26A5_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S26A5_HUMAN PSORT2 swissprot:S26A5_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S26A5_HUMAN Pfam PF00916 http://pfam.xfam.org/family/PF00916 Pfam PF01740 http://pfam.xfam.org/family/PF01740 PharmGKB PA33731 http://www.pharmgkb.org/do/serve?objId=PA33731&objCls=Gene Phobius swissprot:S26A5_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S26A5_HUMAN PhylomeDB P58743 http://phylomedb.org/?seqid=P58743 ProteinModelPortal P58743 http://www.proteinmodelportal.org/query/uniprot/P58743 PubMed 12719379 http://www.ncbi.nlm.nih.gov/pubmed/12719379 PubMed 12853948 http://www.ncbi.nlm.nih.gov/pubmed/12853948 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 RefSeq NP_001161434 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001161434 RefSeq NP_001308716 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001308716 RefSeq NP_945350 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_945350 RefSeq NP_996766 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_996766 RefSeq NP_996767 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_996767 RefSeq NP_996768 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_996768 RefSeq XP_011514472 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011514472 SMR P58743 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P58743 STRING 9606.ENSP00000304783 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000304783&targetmode=cogs SUPFAM SSF52091 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52091 TCDB 2.A.53.2.19 http://www.tcdb.org/search/result.php?tc=2.A.53.2.19 TIGRFAMs TIGR00815 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00815 UCSC uc003vbt http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003vbt&org=rat UniGene Hs.585146 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.585146 UniProtKB S26A5_HUMAN http://www.uniprot.org/uniprot/S26A5_HUMAN UniProtKB-AC P58743 http://www.uniprot.org/uniprot/P58743 charge swissprot:S26A5_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S26A5_HUMAN eggNOG COG0659 http://eggnogapi.embl.de/nog_data/html/tree/COG0659 eggNOG KOG0236 http://eggnogapi.embl.de/nog_data/html/tree/KOG0236 epestfind swissprot:S26A5_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S26A5_HUMAN garnier swissprot:S26A5_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S26A5_HUMAN helixturnhelix swissprot:S26A5_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S26A5_HUMAN hmoment swissprot:S26A5_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S26A5_HUMAN iep swissprot:S26A5_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S26A5_HUMAN inforesidue swissprot:S26A5_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S26A5_HUMAN neXtProt NX_P58743 http://www.nextprot.org/db/entry/NX_P58743 octanol swissprot:S26A5_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S26A5_HUMAN pepcoil swissprot:S26A5_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S26A5_HUMAN pepdigest swissprot:S26A5_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S26A5_HUMAN pepinfo swissprot:S26A5_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S26A5_HUMAN pepnet swissprot:S26A5_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S26A5_HUMAN pepstats swissprot:S26A5_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S26A5_HUMAN pepwheel swissprot:S26A5_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S26A5_HUMAN pepwindow swissprot:S26A5_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S26A5_HUMAN sigcleave swissprot:S26A5_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S26A5_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS ZNT5_HUMAN Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q8TAD4-1; Sequence=Displayed; Name=2; IsoId=Q8TAD4-2; Sequence=VSP_030254, VSP_030255, VSP_030256; Name=3; IsoId=Q8TAD4-3; Sequence=VSP_043673, VSP_043674; Note=No experimental confirmation available.; Name=4; IsoId=Q8TAD4-4; Sequence=VSP_045115, VSP_043673, VSP_043674; # AltName ZNT5_HUMAN Solute carrier family 30 member 5 # AltName ZNT5_HUMAN ZnT-like transporter 1 # BioGrid 122346 33 # CCDS CCDS34173 -. [Q8TAD4-3] # CCDS CCDS3996 -. [Q8TAD4-1] # CCDS CCDS58955 -. [Q8TAD4-4] # ChiTaRS SLC30A5 human # Ensembl ENST00000380860 ENSP00000370241; ENSG00000145740. [Q8TAD4-3] # Ensembl ENST00000396591 ENSP00000379836; ENSG00000145740. [Q8TAD4-1] # Ensembl ENST00000502979 ENSP00000421251; ENSG00000145740. [Q8TAD4-4] # ExpressionAtlas Q8TAD4 baseline and differential # FUNCTION ZNT5_HUMAN Functions as a zinc transporter. May be a transporter of zinc into beta cells in order to form insulin crystals. Partly regulates cellular zinc homeostasis. Required with ZNT7 for the activation of zinc-requiring enzymes, alkaline phosphatases (ALPs). Transports zinc into the lumens of the Golgi apparatus and vesicular compartments where ALPs locate, thus, converting apoALPs to holoALPs. Required with ZNT6 and ZNT7 for the activation of TNAP. {ECO 0000269|PubMed 11904301, ECO 0000269|PubMed 11937503, ECO 0000269|PubMed 15276077, ECO 0000269|PubMed 15525635, ECO 0000269|PubMed 15994300}. # GO_component GO:0005634 nucleus; IDA:HPA. # GO_component GO:0005730 nucleolus; IDA:HPA. # GO_component GO:0005794 Golgi apparatus; IDA:BHF-UCL. # GO_component GO:0005887 integral component of plasma membrane; TAS:UniProtKB. # GO_component GO:0016020 membrane; IDA:MGI. # GO_component GO:0016324 apical plasma membrane; IDA:UniProtKB. # GO_component GO:0030141 secretory granule; IDA:MGI. # GO_component GO:0030667 secretory granule membrane; TAS:Reactome. # GO_function GO:0005385 zinc ion transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0008270 zinc ion binding; NAS:UniProtKB. # GO_process GO:0006824 cobalt ion transport; IDA:MGI. # GO_process GO:0006829 zinc II ion transport; IDA:UniProtKB. # GO_process GO:0006882 cellular zinc ion homeostasis; IDA:UniProtKB. # GO_process GO:0010043 response to zinc ion; IDA:UniProtKB. # GO_process GO:0010155 regulation of proton transport; NAS:UniProtKB. # GO_process GO:0061088 regulation of sequestering of zinc ion; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005730 nucleolus # GOslim_component GO:0005794 Golgi apparatus # GOslim_component GO:0031410 cytoplasmic vesicle # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # Gene3D 1.20.1510.10 -; 2. # Genevisible Q8TAD4 HS # HGNC HGNC:19089 SLC30A5 # INDUCTION ZNT5_HUMAN Down-regulated by ZNF658 in response to zinc. {ECO 0000269|PubMed 15276077, ECO 0000269|PubMed 25582195}. # IntAct Q8TAD4 3 # InterPro IPR002524 Cation_efflux # InterPro IPR027469 Cation_efflux_TMD # KEGG_Brite ko02001 Solute carrier family # MIM 607819 gene # MISCELLANEOUS ZNT5_HUMAN The histidine-rich loop is essential for ZNT5 and ZNT6 heterooligomeric complexes to activate TNAP. # Organism ZNT5_HUMAN Homo sapiens (Human) # PANTHER PTHR11562 PTHR11562; 2 # Pfam PF01545 Cation_efflux # Proteomes UP000005640 Chromosome 5 # Reactome R-HSA-264876 Insulin processing # Reactome R-HSA-435368 Zinc efflux and compartmentalization by the SLC30 family # RecName ZNT5_HUMAN Zinc transporter 5 # RefSeq NP_001238898 NM_001251969.1. [Q8TAD4-4] # RefSeq NP_075053 NM_022902.4. [Q8TAD4-1] # RefSeq NP_076960 NM_024055.4. [Q8TAD4-3] # SEQUENCE CAUTION Sequence=BAB14258.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the cation diffusion facilitator (CDF) transporter (TC 2.A.4) family. SLC30A subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION ZNT5_HUMAN Golgi apparatus, trans-Golgi network membrane {ECO 0000269|PubMed 11904301, ECO 0000269|PubMed 11937503, ECO 0000269|PubMed 15525635}; Multi- pass membrane protein {ECO 0000269|PubMed 11904301, ECO 0000269|PubMed 11937503, ECO 0000269|PubMed 15525635}. Note=Perimeter of granules, localizes to the brush border membrane of the enterocyte. Concentrated in early compartments of the secretory pathway such as COPII-coated vesicles. # SUBUNIT Heterooligomer. Interacts with ZNT6. {ECO:0000269|PubMed 15994300}. # TCDB 2.A.4.4 the cation diffusion facilitator (cdf) family # TIGRFAMs TIGR01297 CDF # TISSUE SPECIFICITY ZNT5_HUMAN Ubiquitously expressed. Highly expressed in pancreas, liver and kidney. Expressed abundantly in insulin- containing beta cells, undetectable in other endocrine cell types including glucagon-secreting alpha cells and most acinar cells. {ECO 0000269|PubMed 11904301, ECO 0000269|PubMed 11937503}. # UCSC uc003jvg human. [Q8TAD4-1] # eggNOG COG1230 LUCA # eggNOG KOG1484 Eukaryota BLAST swissprot:ZNT5_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ZNT5_HUMAN BioCyc ZFISH:ENSG00000145740-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000145740-MONOMER COG COG1230 http://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=COG1230 COXPRESdb 64924 http://coxpresdb.jp/data/gene/64924.shtml CleanEx HS_SLC30A5 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC30A5 DOI 10.1016/j.bcp.2004.05.024 http://dx.doi.org/10.1016/j.bcp.2004.05.024 DOI 10.1016/j.molcel.2008.07.007 http://dx.doi.org/10.1016/j.molcel.2008.07.007 DOI 10.1038/nature02919 http://dx.doi.org/10.1038/nature02919 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.1210303109 http://dx.doi.org/10.1073/pnas.1210303109 DOI 10.1074/jbc.M200577200 http://dx.doi.org/10.1074/jbc.M200577200 DOI 10.1074/jbc.M200910200 http://dx.doi.org/10.1074/jbc.M200910200 DOI 10.1074/jbc.M411247200 http://dx.doi.org/10.1074/jbc.M411247200 DOI 10.1074/jbc.M506902200 http://dx.doi.org/10.1074/jbc.M506902200 DOI 10.1101/gr.1293003 http://dx.doi.org/10.1101/gr.1293003 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 DOI 10.1128/MCB.01298-14 http://dx.doi.org/10.1128/MCB.01298-14 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 EMBL AC010273 http://www.ebi.ac.uk/ena/data/view/AC010273 EMBL AF439324 http://www.ebi.ac.uk/ena/data/view/AF439324 EMBL AF461760 http://www.ebi.ac.uk/ena/data/view/AF461760 EMBL AK022818 http://www.ebi.ac.uk/ena/data/view/AK022818 EMBL AK292925 http://www.ebi.ac.uk/ena/data/view/AK292925 EMBL AY089991 http://www.ebi.ac.uk/ena/data/view/AY089991 EMBL AY358505 http://www.ebi.ac.uk/ena/data/view/AY358505 EMBL BC000808 http://www.ebi.ac.uk/ena/data/view/BC000808 EMBL BC008198 http://www.ebi.ac.uk/ena/data/view/BC008198 EMBL BC017441 http://www.ebi.ac.uk/ena/data/view/BC017441 EMBL BC130452 http://www.ebi.ac.uk/ena/data/view/BC130452 EMBL BC130454 http://www.ebi.ac.uk/ena/data/view/BC130454 EMBL BC144349 http://www.ebi.ac.uk/ena/data/view/BC144349 EMBL BX537394 http://www.ebi.ac.uk/ena/data/view/BX537394 EMBL CH471137 http://www.ebi.ac.uk/ena/data/view/CH471137 EMBL CH471137 http://www.ebi.ac.uk/ena/data/view/CH471137 Ensembl ENST00000380860 http://www.ensembl.org/id/ENST00000380860 Ensembl ENST00000396591 http://www.ensembl.org/id/ENST00000396591 Ensembl ENST00000502979 http://www.ensembl.org/id/ENST00000502979 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005730 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005730 GO_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:0030141 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030141 GO_component GO:0030667 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030667 GO_function GO:0005385 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005385 GO_function GO:0008270 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008270 GO_process GO:0006824 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006824 GO_process GO:0006829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006829 GO_process GO:0006882 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006882 GO_process GO:0010043 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010043 GO_process GO:0010155 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010155 GO_process GO:0061088 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061088 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_component GO:0005730 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005730 GOslim_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GOslim_component GO:0031410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 Gene3D 1.20.1510.10 http://www.cathdb.info/version/latest/superfamily/1.20.1510.10 GeneCards SLC30A5 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC30A5 GeneID 64924 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=64924 GeneTree ENSGT00630000089781 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00630000089781 HGNC HGNC:19089 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:19089 HOGENOM HOG000082502 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000082502&db=HOGENOM6 HOVERGEN HBG056637 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG056637&db=HOVERGEN HPA HPA035373 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA035373 InParanoid Q8TAD4 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8TAD4 IntAct Q8TAD4 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q8TAD4* InterPro IPR002524 http://www.ebi.ac.uk/interpro/entry/IPR002524 InterPro IPR027469 http://www.ebi.ac.uk/interpro/entry/IPR027469 Jabion 64924 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=64924 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:64924 http://www.genome.jp/dbget-bin/www_bget?hsa:64924 KEGG_Orthology KO:K14692 http://www.genome.jp/dbget-bin/www_bget?KO:K14692 MIM 607819 http://www.ncbi.nlm.nih.gov/omim/607819 OMA ICSVKME http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=ICSVKME OrthoDB EOG091G030D http://cegg.unige.ch/orthodb/results?searchtext=EOG091G030D PANTHER PTHR11562 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11562 PSORT swissprot:ZNT5_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ZNT5_HUMAN PSORT-B swissprot:ZNT5_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ZNT5_HUMAN PSORT2 swissprot:ZNT5_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ZNT5_HUMAN Pfam PF01545 http://pfam.xfam.org/family/PF01545 PharmGKB PA134865113 http://www.pharmgkb.org/do/serve?objId=PA134865113&objCls=Gene Phobius swissprot:ZNT5_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ZNT5_HUMAN PhylomeDB Q8TAD4 http://phylomedb.org/?seqid=Q8TAD4 ProteinModelPortal Q8TAD4 http://www.proteinmodelportal.org/query/uniprot/Q8TAD4 PubMed 11904301 http://www.ncbi.nlm.nih.gov/pubmed/11904301 PubMed 11937503 http://www.ncbi.nlm.nih.gov/pubmed/11937503 PubMed 12975309 http://www.ncbi.nlm.nih.gov/pubmed/12975309 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15276077 http://www.ncbi.nlm.nih.gov/pubmed/15276077 PubMed 15372022 http://www.ncbi.nlm.nih.gov/pubmed/15372022 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15525635 http://www.ncbi.nlm.nih.gov/pubmed/15525635 PubMed 15994300 http://www.ncbi.nlm.nih.gov/pubmed/15994300 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 PubMed 18691976 http://www.ncbi.nlm.nih.gov/pubmed/18691976 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 22814378 http://www.ncbi.nlm.nih.gov/pubmed/22814378 PubMed 25582195 http://www.ncbi.nlm.nih.gov/pubmed/25582195 Reactome R-HSA-264876 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-264876 Reactome R-HSA-435368 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-435368 RefSeq NP_001238898 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001238898 RefSeq NP_075053 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_075053 RefSeq NP_076960 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_076960 SMR Q8TAD4 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q8TAD4 STRING 9606.ENSP00000379836 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000379836&targetmode=cogs STRING COG1230 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=COG1230&targetmode=cogs TCDB 2.A.4.4 http://www.tcdb.org/search/result.php?tc=2.A.4.4 TIGRFAMs TIGR01297 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01297 UCSC uc003jvg http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003jvg&org=rat UniGene Hs.631975 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.631975 UniProtKB ZNT5_HUMAN http://www.uniprot.org/uniprot/ZNT5_HUMAN UniProtKB-AC Q8TAD4 http://www.uniprot.org/uniprot/Q8TAD4 charge swissprot:ZNT5_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ZNT5_HUMAN eggNOG COG1230 http://eggnogapi.embl.de/nog_data/html/tree/COG1230 eggNOG KOG1484 http://eggnogapi.embl.de/nog_data/html/tree/KOG1484 epestfind swissprot:ZNT5_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ZNT5_HUMAN garnier swissprot:ZNT5_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ZNT5_HUMAN helixturnhelix swissprot:ZNT5_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ZNT5_HUMAN hmoment swissprot:ZNT5_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ZNT5_HUMAN iep swissprot:ZNT5_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ZNT5_HUMAN inforesidue swissprot:ZNT5_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ZNT5_HUMAN neXtProt NX_Q8TAD4 http://www.nextprot.org/db/entry/NX_Q8TAD4 octanol swissprot:ZNT5_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ZNT5_HUMAN pepcoil swissprot:ZNT5_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ZNT5_HUMAN pepdigest swissprot:ZNT5_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ZNT5_HUMAN pepinfo swissprot:ZNT5_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ZNT5_HUMAN pepnet swissprot:ZNT5_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ZNT5_HUMAN pepstats swissprot:ZNT5_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ZNT5_HUMAN pepwheel swissprot:ZNT5_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ZNT5_HUMAN pepwindow swissprot:ZNT5_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ZNT5_HUMAN sigcleave swissprot:ZNT5_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ZNT5_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS 4F2_HUMAN Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=P08195-1; Sequence=Displayed; Name=2; IsoId=P08195-2; Sequence=VSP_037907; Note=Initiator Met-1 is removed. Contains a N-acetylserine at position 2. Contains a phosphoserine at position 2. {ECO 0000244|PubMed 19413330, ECO 0000244|PubMed 21406692, ECO 0000244|PubMed 22223895}; Name=3; IsoId=P08195-3; Sequence=VSP_037908; Name=4; IsoId=P08195-4; Sequence=VSP_037909; # AltName 4F2_HUMAN 4F2 heavy chain antigen # AltName 4F2_HUMAN CD98 # AltName 4F2_HUMAN Lymphocyte activation antigen 4F2 large subunit # AltName 4F2_HUMAN Solute carrier family 3 member 2 # BIOPHYSICOCHEMICAL PROPERTIES 4F2_HUMAN Kinetic parameters KM=295 uM for glutamine (in the presence of NaCl) {ECO 0000269|PubMed 10903140}; KM=236 uM for leucine (in the presence of NaCl) {ECO 0000269|PubMed 10903140}; KM=120 uM for arginine (in the presence of NaCl) {ECO 0000269|PubMed 10903140}; KM=138 uM for arginine (in the absence of NaCl) {ECO 0000269|PubMed 10903140}; # BioGrid 112411 48 # CAZy GH13 Glycoside Hydrolase Family 13 # CCDS CCDS31589 -. [P08195-3] # CCDS CCDS31590 -. [P08195-2] # CCDS CCDS8039 -. [P08195-1] # ChiTaRS SLC3A2 human # Ensembl ENST00000338663 ENSP00000340815; ENSG00000168003. [P08195-2] # Ensembl ENST00000377889 ENSP00000367121; ENSG00000168003. [P08195-3] # Ensembl ENST00000377890 ENSP00000367122; ENSG00000168003. [P08195-1] # ExpressionAtlas P08195 baseline and differential # FUNCTION 4F2_HUMAN Required for the function of light chain amino-acid transporters. Involved in sodium-independent, high-affinity transport of large neutral amino acids such as phenylalanine, tyrosine, leucine, arginine and tryptophan. Involved in guiding and targeting of LAT1 and LAT2 to the plasma membrane. When associated with SLC7A6 or SLC7A7 acts as an arginine/glutamine exchanger, following an antiport mechanism for amino acid transport, influencing arginine release in exchange for extracellular amino acids. Plays a role in nitric oxide synthesis in human umbilical vein endothelial cells (HUVECs) via transport of L-arginine. Required for normal and neoplastic cell growth. When associated with SLC7A5/LAT1, is also involved in the transport of L-DOPA across the blood-brain barrier, and that of thyroid hormones triiodothyronine (T3) and thyroxine (T4) across the cell membrane in tissues such as placenta. Involved in the uptake of methylmercury (MeHg) when administered as the L-cysteine or D,L-homocysteine complexes, and hence plays a role in metal ion homeostasis and toxicity. When associated with SLC7A5 or SLC7A8, involved in the cellular activity of small molecular weight nitrosothiols, via the stereoselective transport of L- nitrosocysteine (L-CNSO) across the transmembrane. Together with ICAM1, regulates the transport activity LAT2 in polarized intestinal cells, by generating and delivering intracellular signals. When associated with SLC7A5, plays an important role in transporting L-leucine from the circulating blood to the retina across the inner blood-retinal barrier. {ECO 0000269|PubMed 10903140, ECO 0000269|PubMed 11311135, ECO 0000269|PubMed 11389679, ECO 0000269|PubMed 11557028, ECO 0000269|PubMed 11564694, ECO 0000269|PubMed 11742812, ECO 0000269|PubMed 12117417, ECO 0000269|PubMed 12225859, ECO 0000269|PubMed 12716892, ECO 0000269|PubMed 14603368, ECO 0000269|PubMed 15769744, ECO 0000269|PubMed 15980244, ECO 0000269|PubMed 9751058, ECO 0000269|PubMed 9829974, ECO 0000269|PubMed 9878049}. # GO_component GO:0005634 nucleus; IDA:HPA. # GO_component GO:0005737 cytoplasm; IDA:HPA. # GO_component GO:0005886 plasma membrane; IDA:HPA. # GO_component GO:0005913 cell-cell adherens junction; IDA:BHF-UCL. # GO_component GO:0009986 cell surface; IDA:UniProtKB. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; NAS:UniProtKB. # GO_component GO:0016324 apical plasma membrane; IEA:UniProtKB-SubCell. # GO_component GO:0042470 melanosome; IEA:UniProtKB-SubCell. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function 4F2_HUMAN GO 0005432 calcium sodium antiporter activity; TAS UniProtKB. # GO_function GO:0003725 double-stranded RNA binding; IDA:MGI. # GO_function GO:0003824 catalytic activity; IEA:InterPro. # GO_function GO:0015175 neutral amino acid transmembrane transporter activity; ISS:UniProtKB. # GO_function GO:0044822 poly(A) RNA binding; IDA:UniProtKB. # GO_function GO:0098641 cadherin binding involved in cell-cell adhesion; IDA:BHF-UCL. # GO_process GO:0005975 carbohydrate metabolic process; IEA:InterPro. # GO_process GO:0006816 calcium ion transport; NAS:UniProtKB. # GO_process GO:0006865 amino acid transport; TAS:UniProtKB. # GO_process GO:0015827 tryptophan transport; ISS:UniProtKB. # GO_process GO:0016049 cell growth; NAS:UniProtKB. # GO_process GO:0043330 response to exogenous dsRNA; IMP:MGI. # GO_process GO:0050900 leukocyte migration; TAS:Reactome. # GO_process GO:0060356 leucine import; ISS:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0031410 cytoplasmic vesicle # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0003723 RNA binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0002376 immune system process # GOslim_process GO:0005975 carbohydrate metabolic process # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0040007 growth # GOslim_process GO:0048870 cell motility # Gene3D 2.60.40.1180 -; 1. # Gene3D 3.20.20.80 -; 1. # Genevisible P08195 HS # HGNC HGNC:11026 SLC3A2 # INDUCTION 4F2_HUMAN Expression is induced in resting peripheral blood T- lymphocytes following PHA stimulation. Expression increases at the time of maximal DNA synthesis, in fibroblasts stimulated to divide. Expression and the uptake of leucine is stimulated in mononuclear, cytotrophoblast-like choriocarcinoma cells by combined treatment with PMA and calcium ionophore. {ECO 0000269|PubMed 11742812, ECO 0000269|PubMed 3265470, ECO 0000269|PubMed 3480538}. # IntAct P08195 29 # InterPro IPR006047 Glyco_hydro_13_cat_dom # InterPro IPR013780 Glyco_hydro_b # InterPro IPR013781 Glyco_hydro_catalytic_dom # InterPro IPR015902 Glyco_hydro_13 # InterPro IPR017853 Glycoside_hydrolase_SF # InterPro IPR031984 SLC3A2_N # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02001 Solute carrier family # KEGG_Brite ko04090 Cellular antigens # KEGG_Pathway ko04974 Protein digestion and absorption # MASS SPECTROMETRY Mass=57944.93; Method=MALDI; Range=1-529; Evidence={ECO:0000269|PubMed 11840567}; # MIM 158070 gene # MISCELLANEOUS 4F2_HUMAN Arginine uptake is inhibited by increasing concentrations of leucine in the presence of Na(+). # Organism 4F2_HUMAN Homo sapiens (Human) # PANTHER PTHR10357 PTHR10357 # PDB 2DH2 X-ray; 2.10 A; A=212-630 # PDB 2DH3 X-ray; 2.80 A; A/B=212-630 # PIR A28455 SAHU4F # PTM 4F2_HUMAN Phosphorylation on Ser-406; Ser-408 or Ser-410 and on Ser-527 or Ser-531 by ecto-protein kinases favors heterotypic cell-cell interactions. {ECO 0000269|PubMed 19065266}. # Pfam PF00128 Alpha-amylase # Pfam PF16028 SLC3A2_N # Proteomes UP000005640 Chromosome 11 # Reactome R-HSA-210991 Basigin interactions # Reactome R-HSA-352230 Amino acid transport across the plasma membrane # RecName 4F2_HUMAN 4F2 cell-surface antigen heavy chain # RefSeq NP_001012680 NM_001012662.2 # RefSeq NP_001012682 NM_001012664.2. [P08195-3] # RefSeq NP_001013269 NM_001013251.2. [P08195-2] # RefSeq NP_002385 NM_002394.5. [P08195-1] # SIMILARITY Belongs to the SLC3A transporter family. {ECO 0000305}. # SMART SM00642 Aamy # SUBCELLULAR LOCATION 4F2_HUMAN Apical cell membrane; Single-pass type II membrane protein. Melanosome. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. Localized to the plasma membrane when associated with SLC7A5 or SLC7A8. Localized to the placental apical membrane. Located selectively at cell-cell adhesion sites (By similarity). Colocalized with SLC7A8/LAT2 at the basolateral membrane of kidney proximal tubules and small intestine epithelia. Expressed in both luminal and abluminal membranes of brain capillary endothelial cells (By similarity). {ECO 0000250}. # SUBUNIT 4F2_HUMAN Disulfide-linked heterodimer of a glycosylated heavy chain and a non-glycosylated light chain (SLC7A5, SLC7A6, SLCA7A7, SLC7A8, SLC7A10 or SLCA7A11). Colocalizes with cadherins (By similarity). Interacts with FAM57A/CT120 and ICAM1. Constitutively and specifically associates with beta-1 integrins (alpha-2/beta-1, alpha-3/beta-1, alpha-5/beta-1 and alpha-6/beta-1), but minimally with alpha-4/beta-1. {ECO 0000250, ECO 0000269|PubMed 11311135, ECO 0000269|PubMed 11389679, ECO 0000269|PubMed 11557028, ECO 0000269|PubMed 11564694, ECO 0000269|PubMed 11696247, ECO 0000269|PubMed 12225859, ECO 0000269|PubMed 12270127, ECO 0000269|PubMed 12716892, ECO 0000269|PubMed 14603368, ECO 0000269|PubMed 15769744, ECO 0000269|PubMed 17724034, ECO 0000269|PubMed 9751058, ECO 0000269|PubMed 9829974, ECO 0000269|PubMed 9878049}. # SUPFAM SSF51445 SSF51445 # TCDB 8.A.9.2 the rbat transport accessory protein (rbat) family # TISSUE SPECIFICITY 4F2_HUMAN Expressed ubiquitously in all tissues tested with highest levels detected in kidney, placenta and testis and weakest level in thymus. During gestation, expression in the placenta was significantly stronger at full-term than at the mid- trimester stage. Expressed in HUVECS and at low levels in resting peripheral blood T-lymphocytes and quiescent fibroblasts. Also expressed in fetal liver and in the astrocytic process of primary astrocytic gliomas. Expressed in retinal endothelial cells and in the intestinal epithelial cell line C2BBe1. {ECO 0000269|PubMed 11389679, ECO 0000269|PubMed 11557028, ECO 0000269|PubMed 11742812, ECO 0000269|PubMed 12716892, ECO 0000269|PubMed 14603368, ECO 0000269|PubMed 15980244, ECO 0000269|PubMed 16496379, ECO 0000269|PubMed 3265470, ECO 0000269|PubMed 3480538}. # UCSC uc001nwd human. [P08195-1] # eggNOG COG0366 LUCA # eggNOG KOG0471 Eukaryota BLAST swissprot:4F2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:4F2_HUMAN BioCyc MetaCyc:ENSG00000168003-MONOMER http://biocyc.org/getid?id=MetaCyc:ENSG00000168003-MONOMER BioCyc ZFISH:ENSG00000168003-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000168003-MONOMER COXPRESdb 6520 http://coxpresdb.jp/data/gene/6520.shtml CleanEx HS_SLC3A2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC3A2 DOI 10.1002/1615-9861(200202)2:2<212::AID-PROT212>3.0.CO http://dx.doi.org/10.1002/1615-9861(200202)2:2<212::AID-PROT212>3.0.CO DOI 10.1002/ijc.21866 http://dx.doi.org/10.1002/ijc.21866 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1016/S0005-2736(01)00384-4 http://dx.doi.org/10.1016/S0005-2736(01)00384-4 DOI 10.1016/S0005-2736(02)00516-3 http://dx.doi.org/10.1016/S0005-2736(02)00516-3 DOI 10.1016/S0006-291X(02)02227-1 http://dx.doi.org/10.1016/S0006-291X(02)02227-1 DOI 10.1016/j.cell.2006.09.026 http://dx.doi.org/10.1016/j.cell.2006.09.026 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/ac9004309 http://dx.doi.org/10.1021/ac9004309 DOI 10.1021/pr0502065 http://dx.doi.org/10.1021/pr0502065 DOI 10.1021/pr060363j http://dx.doi.org/10.1021/pr060363j DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1021/pr8008012 http://dx.doi.org/10.1021/pr8008012 DOI 10.1038/26246 http://dx.doi.org/10.1038/26246 DOI 10.1038/nature04632 http://dx.doi.org/10.1038/nature04632 DOI 10.1038/nbt.1532 http://dx.doi.org/10.1038/nbt.1532 DOI 10.1038/nbt827 http://dx.doi.org/10.1038/nbt827 DOI 10.1042/0264-6021:3560719 http://dx.doi.org/10.1042/0264-6021:3560719 DOI 10.1042/BJ20020841 http://dx.doi.org/10.1042/BJ20020841 DOI 10.1042/bj3490787 http://dx.doi.org/10.1042/bj3490787 DOI 10.1073/pnas.1210303109 http://dx.doi.org/10.1073/pnas.1210303109 DOI 10.1073/pnas.1413825111 http://dx.doi.org/10.1073/pnas.1413825111 DOI 10.1073/pnas.84.18.6526 http://dx.doi.org/10.1073/pnas.84.18.6526 DOI 10.1073/pnas.84.24.9204 http://dx.doi.org/10.1073/pnas.84.24.9204 DOI 10.1074/jbc.273.49.32437 http://dx.doi.org/10.1074/jbc.273.49.32437 DOI 10.1074/jbc.M302777200 http://dx.doi.org/10.1074/jbc.M302777200 DOI 10.1074/jbc.M413164200 http://dx.doi.org/10.1074/jbc.M413164200 DOI 10.1074/jbc.M704524200 http://dx.doi.org/10.1074/jbc.M704524200 DOI 10.1074/mcp.M111.015131 http://dx.doi.org/10.1074/mcp.M111.015131 DOI 10.1074/mcp.M800504-MCP200 http://dx.doi.org/10.1074/mcp.M800504-MCP200 DOI 10.1093/emboj/18.1.49 http://dx.doi.org/10.1093/emboj/18.1.49 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1113/eph8802647 http://dx.doi.org/10.1113/eph8802647 DOI 10.1126/scisignal.2000007 http://dx.doi.org/10.1126/scisignal.2000007 DOI 10.1126/scisignal.2001570 http://dx.doi.org/10.1126/scisignal.2001570 DOI 10.1128/MCB.8.9.3809 http://dx.doi.org/10.1128/MCB.8.9.3809 DOI 10.1167/iovs.04-1175 http://dx.doi.org/10.1167/iovs.04-1175 DOI 10.1186/1472-2091-2-10 http://dx.doi.org/10.1186/1472-2091-2-10 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DOI 10.1210/en.142.10.4339 http://dx.doi.org/10.1210/en.142.10.4339 DOI 10.1371/journal.pone.0003895 http://dx.doi.org/10.1371/journal.pone.0003895 EMBL AB018010 http://www.ebi.ac.uk/ena/data/view/AB018010 EMBL AP001160 http://www.ebi.ac.uk/ena/data/view/AP001160 EMBL BC001061 http://www.ebi.ac.uk/ena/data/view/BC001061 EMBL BC003000 http://www.ebi.ac.uk/ena/data/view/BC003000 EMBL BE794697 http://www.ebi.ac.uk/ena/data/view/BE794697 EMBL J02769 http://www.ebi.ac.uk/ena/data/view/J02769 EMBL J02939 http://www.ebi.ac.uk/ena/data/view/J02939 EMBL J03569 http://www.ebi.ac.uk/ena/data/view/J03569 EMBL M21898 http://www.ebi.ac.uk/ena/data/view/M21898 EMBL M21899 http://www.ebi.ac.uk/ena/data/view/M21899 EMBL M21900 http://www.ebi.ac.uk/ena/data/view/M21900 EMBL M21901 http://www.ebi.ac.uk/ena/data/view/M21901 EMBL M21902 http://www.ebi.ac.uk/ena/data/view/M21902 EMBL M21903 http://www.ebi.ac.uk/ena/data/view/M21903 EMBL M21904 http://www.ebi.ac.uk/ena/data/view/M21904 Ensembl ENST00000338663 http://www.ensembl.org/id/ENST00000338663 Ensembl ENST00000377889 http://www.ensembl.org/id/ENST00000377889 Ensembl ENST00000377890 http://www.ensembl.org/id/ENST00000377890 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005913 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005913 GO_component GO:0009986 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009986 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:0042470 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042470 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0003725 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003725 GO_function GO:0003824 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003824 GO_function GO:0005432 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005432 GO_function GO:0015175 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015175 GO_function GO:0044822 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044822 GO_function GO:0098641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0098641 GO_process GO:0005975 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005975 GO_process GO:0006816 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006816 GO_process GO:0006865 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006865 GO_process GO:0015827 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015827 GO_process GO:0016049 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016049 GO_process GO:0043330 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043330 GO_process GO:0050900 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050900 GO_process GO:0060356 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060356 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0031410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0003723 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003723 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0002376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002376 GOslim_process GO:0005975 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005975 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0040007 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0040007 GOslim_process GO:0048870 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048870 Gene3D 2.60.40.1180 http://www.cathdb.info/version/latest/superfamily/2.60.40.1180 Gene3D 3.20.20.80 http://www.cathdb.info/version/latest/superfamily/3.20.20.80 GeneCards SLC3A2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC3A2 GeneID 6520 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6520 GeneTree ENSGT00860000133843 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00860000133843 HGNC HGNC:11026 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11026 HOGENOM HOG000233529 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000233529&db=HOGENOM6 HOVERGEN HBG000023 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG000023&db=HOVERGEN HPA CAB010455 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB010455 HPA HPA017980 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA017980 InParanoid P08195 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P08195 IntAct P08195 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P08195* InterPro IPR006047 http://www.ebi.ac.uk/interpro/entry/IPR006047 InterPro IPR013780 http://www.ebi.ac.uk/interpro/entry/IPR013780 InterPro IPR013781 http://www.ebi.ac.uk/interpro/entry/IPR013781 InterPro IPR015902 http://www.ebi.ac.uk/interpro/entry/IPR015902 InterPro IPR017853 http://www.ebi.ac.uk/interpro/entry/IPR017853 InterPro IPR031984 http://www.ebi.ac.uk/interpro/entry/IPR031984 Jabion 6520 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6520 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Brite ko04090 http://www.genome.jp/dbget-bin/www_bget?ko04090 KEGG_Gene hsa:6520 http://www.genome.jp/dbget-bin/www_bget?hsa:6520 KEGG_Orthology KO:K06519 http://www.genome.jp/dbget-bin/www_bget?KO:K06519 KEGG_Pathway ko04974 http://www.genome.jp/kegg-bin/show_pathway?ko04974 MIM 158070 http://www.ncbi.nlm.nih.gov/omim/158070 MINT MINT-4999018 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-4999018 PANTHER PTHR10357 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10357 PDB 2DH2 http://www.ebi.ac.uk/pdbe-srv/view/entry/2DH2 PDB 2DH3 http://www.ebi.ac.uk/pdbe-srv/view/entry/2DH3 PDBsum 2DH2 http://www.ebi.ac.uk/pdbsum/2DH2 PDBsum 2DH3 http://www.ebi.ac.uk/pdbsum/2DH3 PSORT swissprot:4F2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:4F2_HUMAN PSORT-B swissprot:4F2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:4F2_HUMAN PSORT2 swissprot:4F2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:4F2_HUMAN Pfam PF00128 http://pfam.xfam.org/family/PF00128 Pfam PF16028 http://pfam.xfam.org/family/PF16028 PharmGKB PA35894 http://www.pharmgkb.org/do/serve?objId=PA35894&objCls=Gene Phobius swissprot:4F2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:4F2_HUMAN PhylomeDB P08195 http://phylomedb.org/?seqid=P08195 ProteinModelPortal P08195 http://www.proteinmodelportal.org/query/uniprot/P08195 PubMed 10903140 http://www.ncbi.nlm.nih.gov/pubmed/10903140 PubMed 11311135 http://www.ncbi.nlm.nih.gov/pubmed/11311135 PubMed 11389679 http://www.ncbi.nlm.nih.gov/pubmed/11389679 PubMed 11557028 http://www.ncbi.nlm.nih.gov/pubmed/11557028 PubMed 11564694 http://www.ncbi.nlm.nih.gov/pubmed/11564694 PubMed 11696247 http://www.ncbi.nlm.nih.gov/pubmed/11696247 PubMed 11742812 http://www.ncbi.nlm.nih.gov/pubmed/11742812 PubMed 11840567 http://www.ncbi.nlm.nih.gov/pubmed/11840567 PubMed 12117417 http://www.ncbi.nlm.nih.gov/pubmed/12117417 PubMed 12225859 http://www.ncbi.nlm.nih.gov/pubmed/12225859 PubMed 12270127 http://www.ncbi.nlm.nih.gov/pubmed/12270127 PubMed 12716892 http://www.ncbi.nlm.nih.gov/pubmed/12716892 PubMed 12754519 http://www.ncbi.nlm.nih.gov/pubmed/12754519 PubMed 14603368 http://www.ncbi.nlm.nih.gov/pubmed/14603368 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15769744 http://www.ncbi.nlm.nih.gov/pubmed/15769744 PubMed 15980244 http://www.ncbi.nlm.nih.gov/pubmed/15980244 PubMed 16335952 http://www.ncbi.nlm.nih.gov/pubmed/16335952 PubMed 16496379 http://www.ncbi.nlm.nih.gov/pubmed/16496379 PubMed 16554811 http://www.ncbi.nlm.nih.gov/pubmed/16554811 PubMed 17081065 http://www.ncbi.nlm.nih.gov/pubmed/17081065 PubMed 17081983 http://www.ncbi.nlm.nih.gov/pubmed/17081983 PubMed 17724034 http://www.ncbi.nlm.nih.gov/pubmed/17724034 PubMed 19065266 http://www.ncbi.nlm.nih.gov/pubmed/19065266 PubMed 19139490 http://www.ncbi.nlm.nih.gov/pubmed/19139490 PubMed 19159218 http://www.ncbi.nlm.nih.gov/pubmed/19159218 PubMed 19349973 http://www.ncbi.nlm.nih.gov/pubmed/19349973 PubMed 19413330 http://www.ncbi.nlm.nih.gov/pubmed/19413330 PubMed 19690332 http://www.ncbi.nlm.nih.gov/pubmed/19690332 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 21406692 http://www.ncbi.nlm.nih.gov/pubmed/21406692 PubMed 22223895 http://www.ncbi.nlm.nih.gov/pubmed/22223895 PubMed 22814378 http://www.ncbi.nlm.nih.gov/pubmed/22814378 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 25114211 http://www.ncbi.nlm.nih.gov/pubmed/25114211 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 3036867 http://www.ncbi.nlm.nih.gov/pubmed/3036867 PubMed 3265470 http://www.ncbi.nlm.nih.gov/pubmed/3265470 PubMed 3476959 http://www.ncbi.nlm.nih.gov/pubmed/3476959 PubMed 3480538 http://www.ncbi.nlm.nih.gov/pubmed/3480538 PubMed 9751058 http://www.ncbi.nlm.nih.gov/pubmed/9751058 PubMed 9829974 http://www.ncbi.nlm.nih.gov/pubmed/9829974 PubMed 9878049 http://www.ncbi.nlm.nih.gov/pubmed/9878049 Reactome R-HSA-210991 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-210991 Reactome R-HSA-352230 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-352230 RefSeq NP_001012680 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001012680 RefSeq NP_001012682 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001012682 RefSeq NP_001013269 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001013269 RefSeq NP_002385 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_002385 SMART SM00642 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00642 SMR P08195 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P08195 STRING 9606.ENSP00000367123 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000367123&targetmode=cogs SUPFAM SSF51445 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF51445 TCDB 8.A.9.2 http://www.tcdb.org/search/result.php?tc=8.A.9.2 UCSC uc001nwd http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001nwd&org=rat UniGene Hs.502769 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.502769 UniProtKB 4F2_HUMAN http://www.uniprot.org/uniprot/4F2_HUMAN UniProtKB-AC P08195 http://www.uniprot.org/uniprot/P08195 charge swissprot:4F2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:4F2_HUMAN eggNOG COG0366 http://eggnogapi.embl.de/nog_data/html/tree/COG0366 eggNOG KOG0471 http://eggnogapi.embl.de/nog_data/html/tree/KOG0471 epestfind swissprot:4F2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:4F2_HUMAN garnier swissprot:4F2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:4F2_HUMAN helixturnhelix swissprot:4F2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:4F2_HUMAN hmoment swissprot:4F2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:4F2_HUMAN iep swissprot:4F2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:4F2_HUMAN inforesidue swissprot:4F2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:4F2_HUMAN neXtProt NX_P08195 http://www.nextprot.org/db/entry/NX_P08195 octanol swissprot:4F2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:4F2_HUMAN pepcoil swissprot:4F2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:4F2_HUMAN pepdigest swissprot:4F2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:4F2_HUMAN pepinfo swissprot:4F2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:4F2_HUMAN pepnet swissprot:4F2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:4F2_HUMAN pepstats swissprot:4F2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:4F2_HUMAN pepwheel swissprot:4F2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:4F2_HUMAN pepwindow swissprot:4F2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:4F2_HUMAN sigcleave swissprot:4F2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:4F2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS KCNG3_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=Kv10.1b; IsoId=Q8TAE7-1; Sequence=Displayed; Name=2; Synonyms=Kv10.1a; IsoId=Q8TAE7-2; Sequence=VSP_001026; # AltName KCNG3_HUMAN Voltage-gated potassium channel subunit Kv10.1 # AltName KCNG3_HUMAN Voltage-gated potassium channel subunit Kv6.3 # BioGrid 128090 4 # CCDS CCDS1809 -. [Q8TAE7-1] # CCDS CCDS42674 -. [Q8TAE7-2] # DOMAIN KCNG3_HUMAN The transmembrane segment S4 functions as voltage-sensor and is characterized by a series of positively charged amino acids at every third position. Channel opening and closing is effected by a conformation change that affects the position and orientation of the voltage-sensor paddle formed by S3 and S4 within the membrane. A transmembrane electric field that is positive inside would push the positively charged S4 segment outwards, thereby opening the pore, while a field that is negative inside would pull the S4 segment inwards and close the pore. Changes in the position and orientation of S4 are then transmitted to the activation gate formed by the inner helix bundle via the S4-S5 linker region. {ECO 0000250|UniProtKB P63142}. # Ensembl ENST00000306078 ENSP00000304127; ENSG00000171126. [Q8TAE7-1] # Ensembl ENST00000394973 ENSP00000378424; ENSG00000171126. [Q8TAE7-2] # FUNCTION KCNG3_HUMAN Potassium channel subunit that does not form functional channels by itself (PubMed 11852086). Can form functional heterotetrameric channels with KCNB1; this promotes a reduction in the rate of activation and inactivation of the delayed rectifier voltage-gated potassium channel KCNB1 (PubMed 11852086, PubMed 19074135). {ECO 0000269|PubMed 11852086, ECO 0000269|PubMed 19074135}. # GO_component GO:0005783 endoplasmic reticulum; IDA:UniProtKB. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0008076 voltage-gated potassium channel complex; IEA:InterPro. # GO_function GO:0005251 delayed rectifier potassium channel activity; IDA:UniProtKB. # GO_process GO:0051260 protein homooligomerization; IEA:InterPro. # GO_process GO:0071805 potassium ion transmembrane transport; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.20.120.350 -; 1. # Genevisible Q8TAE7 HS # HGNC HGNC:18306 KCNG3 # InterPro IPR000210 BTB/POZ_dom # InterPro IPR003131 T1-type_BTB # InterPro IPR003968 K_chnl_volt-dep_Kv # InterPro IPR003971 K_chnl_volt-dep_Kv9 # InterPro IPR005821 Ion_trans_dom # InterPro IPR011333 SKP1/BTB/POZ # InterPro IPR027359 Channel_four-helix_dom # InterPro IPR028325 VG_K_chnl # KEGG_Brite ko04040 Ion channels # MIM 606767 gene # Organism KCNG3_HUMAN Homo sapiens (Human) # PANTHER PTHR11537 PTHR11537 # PRINTS PR00169 KCHANNEL # PRINTS PR01491 KVCHANNEL # PRINTS PR01494 KV9CHANNEL # Pfam PF00520 Ion_trans # Pfam PF02214 BTB_2 # Proteomes UP000005640 Chromosome 2 # Reactome R-HSA-1296072 Voltage gated Potassium channels # RecName KCNG3_HUMAN Potassium voltage-gated channel subfamily G member 3 # RefSeq NP_579875 NM_133329.5. [Q8TAE7-1] # RefSeq NP_758847 NM_172344.2. [Q8TAE7-2] # SIMILARITY Belongs to the potassium channel family. G (TC 1.A.1.2) subfamily. Kv6.3/KCNG3 sub-subfamily. {ECO 0000305}. # SMART SM00225 BTB # SUBCELLULAR LOCATION KCNG3_HUMAN Cell membrane {ECO 0000269|PubMed 11852086, ECO 0000269|PubMed 12060745, ECO 0000269|PubMed 19074135}; Multi- pass membrane protein {ECO 0000305}. Cytoplasm {ECO 0000269|PubMed 12060745}. Note=Has to be associated with KCNB1 or possibly another partner to get inserted in the plasma membrane (PubMed 12060745). Colocalizes with KCNB1 at the plasma membrane (PubMed 12060745, PubMed 19074135). Remains intracellular in the absence of KCNB1 (PubMed 12060745). {ECO 0000269|PubMed 12060745, ECO 0000269|PubMed 19074135}. # SUBUNIT KCNG3_HUMAN Heterotetramer with KCNB1 (PubMed 11852086, PubMed 12060745, PubMed 19074135). Does not form homomultimers (PubMed 12060745). {ECO 0000269|PubMed 11852086, ECO 0000269|PubMed 12060745, ECO 0000269|PubMed 19074135}. # SUPFAM SSF54695 SSF54695 # TISSUE SPECIFICITY KCNG3_HUMAN Expressed in the brain, liver, testis, small intestine, colon, thymus and adrenal gland (PubMed 11852086, PubMed 12060745). {ECO 0000269|PubMed 11852086, ECO 0000269|PubMed 12060745}. # UCSC uc002rsm human. [Q8TAE7-1] # eggNOG COG1226 LUCA # eggNOG KOG3713 Eukaryota BLAST swissprot:KCNG3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCNG3_HUMAN BioCyc ZFISH:ENSG00000171126-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000171126-MONOMER COXPRESdb 170850 http://coxpresdb.jp/data/gene/170850.shtml CleanEx HS_KCNG3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNG3 DOI 10.1016/S0014-5793(02)02267-6 http://dx.doi.org/10.1016/S0014-5793(02)02267-6 DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1073/pnas.122617999 http://dx.doi.org/10.1073/pnas.122617999 DOI 10.1074/jbc.M808786200 http://dx.doi.org/10.1074/jbc.M808786200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AB070604 http://www.ebi.ac.uk/ena/data/view/AB070604 EMBL AC025750 http://www.ebi.ac.uk/ena/data/view/AC025750 EMBL AF348982 http://www.ebi.ac.uk/ena/data/view/AF348982 EMBL AF454547 http://www.ebi.ac.uk/ena/data/view/AF454547 EMBL AF454548 http://www.ebi.ac.uk/ena/data/view/AF454548 EMBL BC071558 http://www.ebi.ac.uk/ena/data/view/BC071558 EMBL CH471053 http://www.ebi.ac.uk/ena/data/view/CH471053 Ensembl ENST00000306078 http://www.ensembl.org/id/ENST00000306078 Ensembl ENST00000394973 http://www.ensembl.org/id/ENST00000394973 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0008076 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008076 GO_function GO:0005251 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005251 GO_process GO:0051260 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051260 GO_process GO:0071805 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071805 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.20.120.350 http://www.cathdb.info/version/latest/superfamily/1.20.120.350 GeneCards KCNG3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNG3 GeneID 170850 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=170850 GeneTree ENSGT00760000118981 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118981 HGNC HGNC:18306 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:18306 HOGENOM HOG000231014 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231014&db=HOGENOM6 HOVERGEN HBG100172 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG100172&db=HOVERGEN InParanoid Q8TAE7 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8TAE7 IntAct Q8TAE7 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q8TAE7* InterPro IPR000210 http://www.ebi.ac.uk/interpro/entry/IPR000210 InterPro IPR003131 http://www.ebi.ac.uk/interpro/entry/IPR003131 InterPro IPR003968 http://www.ebi.ac.uk/interpro/entry/IPR003968 InterPro IPR003971 http://www.ebi.ac.uk/interpro/entry/IPR003971 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR011333 http://www.ebi.ac.uk/interpro/entry/IPR011333 InterPro IPR027359 http://www.ebi.ac.uk/interpro/entry/IPR027359 InterPro IPR028325 http://www.ebi.ac.uk/interpro/entry/IPR028325 Jabion 170850 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=170850 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:170850 http://www.genome.jp/dbget-bin/www_bget?hsa:170850 KEGG_Orthology KO:K04902 http://www.genome.jp/dbget-bin/www_bget?KO:K04902 MIM 606767 http://www.ncbi.nlm.nih.gov/omim/606767 OMA DMYPITM http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=DMYPITM OrthoDB EOG091G09VX http://cegg.unige.ch/orthodb/results?searchtext=EOG091G09VX PANTHER PTHR11537 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11537 PRINTS PR00169 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00169 PRINTS PR01491 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01491 PRINTS PR01494 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01494 PSORT swissprot:KCNG3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCNG3_HUMAN PSORT-B swissprot:KCNG3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCNG3_HUMAN PSORT2 swissprot:KCNG3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCNG3_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF02214 http://pfam.xfam.org/family/PF02214 PharmGKB PA30036 http://www.pharmgkb.org/do/serve?objId=PA30036&objCls=Gene Phobius swissprot:KCNG3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCNG3_HUMAN PhylomeDB Q8TAE7 http://phylomedb.org/?seqid=Q8TAE7 ProteinModelPortal Q8TAE7 http://www.proteinmodelportal.org/query/uniprot/Q8TAE7 PubMed 11852086 http://www.ncbi.nlm.nih.gov/pubmed/11852086 PubMed 12060745 http://www.ncbi.nlm.nih.gov/pubmed/12060745 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 PubMed 19074135 http://www.ncbi.nlm.nih.gov/pubmed/19074135 Reactome R-HSA-1296072 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1296072 RefSeq NP_579875 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_579875 RefSeq NP_758847 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_758847 SMART SM00225 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00225 STRING 9606.ENSP00000304127 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000304127&targetmode=cogs SUPFAM SSF54695 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF54695 UCSC uc002rsm http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002rsm&org=rat UniGene Hs.352633 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.352633 UniProtKB KCNG3_HUMAN http://www.uniprot.org/uniprot/KCNG3_HUMAN UniProtKB-AC Q8TAE7 http://www.uniprot.org/uniprot/Q8TAE7 charge swissprot:KCNG3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCNG3_HUMAN eggNOG COG1226 http://eggnogapi.embl.de/nog_data/html/tree/COG1226 eggNOG KOG3713 http://eggnogapi.embl.de/nog_data/html/tree/KOG3713 epestfind swissprot:KCNG3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCNG3_HUMAN garnier swissprot:KCNG3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCNG3_HUMAN helixturnhelix swissprot:KCNG3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCNG3_HUMAN hmoment swissprot:KCNG3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCNG3_HUMAN iep swissprot:KCNG3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCNG3_HUMAN inforesidue swissprot:KCNG3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCNG3_HUMAN neXtProt NX_Q8TAE7 http://www.nextprot.org/db/entry/NX_Q8TAE7 octanol swissprot:KCNG3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCNG3_HUMAN pepcoil swissprot:KCNG3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCNG3_HUMAN pepdigest swissprot:KCNG3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCNG3_HUMAN pepinfo swissprot:KCNG3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCNG3_HUMAN pepnet swissprot:KCNG3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCNG3_HUMAN pepstats swissprot:KCNG3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCNG3_HUMAN pepwheel swissprot:KCNG3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCNG3_HUMAN pepwindow swissprot:KCNG3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCNG3_HUMAN sigcleave swissprot:KCNG3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCNG3_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS TRPM3_HUMAN Event=Alternative splicing; Named isoforms=11; Name=1; Synonyms=TRPM3f; IsoId=Q9HCF6-1; Sequence=Displayed; Name=2; Synonyms=TRPM3a; IsoId=Q9HCF6-2; Sequence=VSP_012826; Name=3; Synonyms=TRPM3b; IsoId=Q9HCF6-3; Sequence=VSP_012826, VSP_012828; Name=4; Synonyms=TRPM3d; IsoId=Q9HCF6-4; Sequence=VSP_012826, VSP_012829; Name=5; Synonyms=TRPM3e; IsoId=Q9HCF6-5; Sequence=VSP_012826, VSP_012828, VSP_012829; Name=6; Synonyms=TRPM3c; IsoId=Q9HCF6-6; Sequence=VSP_012826, VSP_012830; Name=7; IsoId=Q9HCF6-7; Sequence=VSP_012829; Name=8; IsoId=Q9HCF6-8; Sequence=VSP_012826, VSP_012827, VSP_012829; Name=10; IsoId=Q9HCF6-10; Sequence=VSP_012826, VSP_012831, VSP_012832; Name=11; IsoId=Q9HCF6-11; Sequence=VSP_039107; Name=12; IsoId=Q9HCF6-12; Sequence=VSP_043515, VSP_012826, VSP_043516; Note=No experimental confirmation available.; # AltName TRPM3_HUMAN Long transient receptor potential channel 3 # AltName TRPM3_HUMAN Melastatin-2 # BioGrid 123085 5 # CCDS CCDS43835 -. [Q9HCF6-2] # CCDS CCDS6637 -. [Q9HCF6-12] # ChiTaRS TRPM3 human # Ensembl ENST00000361823 ENSP00000355395; ENSG00000083067. [Q9HCF6-12] # Ensembl ENST00000377110 ENSP00000366314; ENSG00000083067. [Q9HCF6-2] # Ensembl ENST00000377111 ENSP00000366315; ENSG00000083067. [Q9HCF6-10] # ExpressionAtlas Q9HCF6 baseline and differential # FUNCTION TRPM3_HUMAN Calcium channel mediating constitutive calcium ion entry. Its activity is increased by reduction in extracellular osmolarity, by store depletion and muscarinic receptor activation. {ECO 0000269|PubMed 12672799, ECO 0000269|PubMed 12672827}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0005227 calcium activated cation channel activity; IEA:InterPro. # GO_function GO:0005261 cation channel activity; IDA:MGI. # GO_function GO:0005262 calcium channel activity; TAS:Reactome. # GO_process GO:0006812 cation transport; IDA:MGI. # GO_process GO:0016048 detection of temperature stimulus; IEA:InterPro. # GO_process GO:0050951 sensory perception of temperature stimulus; IEA:InterPro. # GO_process GO:0051262 protein tetramerization; IEA:InterPro. # GO_process GO:0070588 calcium ion transmembrane transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0050877 neurological system process # GOslim_process GO:0055085 transmembrane transport # Genevisible Q9HCF6 HS # HGNC HGNC:17992 TRPM3 # InterPro IPR005821 Ion_trans_dom # InterPro IPR029583 TRPM3 # InterPro IPR032415 TRPM_tetra # KEGG_Brite ko04040 Ion channels # MIM 608961 gene # Organism TRPM3_HUMAN Homo sapiens (Human) # PANTHER PTHR13800:SF7 PTHR13800:SF7; 3 # Pfam PF00520 Ion_trans # Pfam PF16519 TRPM_tetra # Proteomes UP000005640 Chromosome 9 # Reactome R-HSA-3295583 TRP channels # RecName TRPM3_HUMAN Transient receptor potential cation channel subfamily M member 3 # RefSeq NP_001007472 NM_001007471.2. [Q9HCF6-2] # RefSeq NP_996831 NM_206948.2. [Q9HCF6-12] # RefSeq XP_011517340 XM_011519038.2. [Q9HCF6-1] # RefSeq XP_011517341 XM_011519039.2. [Q9HCF6-7] # RefSeq XP_011517343 XM_011519041.2. [Q9HCF6-3] # RefSeq XP_011517346 XM_011519044.2. [Q9HCF6-5] # RefSeq XP_011517348 XM_011519046.2. [Q9HCF6-4] # RefSeq XP_011517349 XM_011519047.2. [Q9HCF6-10] # RefSeq XP_016870631 XM_017015142.1. [Q9HCF6-11] # SEQUENCE CAUTION TRPM3_HUMAN Sequence=CAB66480.2; Type=Miscellaneous discrepancy; Note=Cloning artifact in C-terminus.; Evidence={ECO 0000305}; Sequence=CAM13096.1; Type=Erroneous gene model prediction; Evidence={ECO 0000305}; Sequence=CAM13169.1; Type=Erroneous gene model prediction; Evidence={ECO 0000305}; Sequence=CAM15782.1; Type=Erroneous gene model prediction; Evidence={ECO 0000305}; Sequence=CAM17596.1; Type=Erroneous gene model prediction; Evidence={ECO 0000305}; Sequence=CAM22746.1; Type=Erroneous gene model prediction; Evidence={ECO 0000305}; # SIMILARITY Belongs to the transient receptor (TC 1.A.4) family. LTrpC subfamily. TRPM3 sub-subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION TRPM3_HUMAN Membrane {ECO 0000269|PubMed 12672827}; Multi-pass membrane protein {ECO 0000269|PubMed 12672827}. # TCDB 1.A.4.5 the transient receptor potential ca(2+) channel (trp-cc) family # TISSUE SPECIFICITY TRPM3_HUMAN Expressed primarily in the kidney and, at lower levels, in brain, testis, ovary, pancreas and spinal cord. Expression in the brain and kidney was determined at protein level. In the kidney, expressed predominantly in the collecting tubular epithelium in the medulla, medullary rays, and periglomerular regions; in the brain, highest levels are found in the cerebellum, choroid plexus, the locus coeruleus, the posterior thalamus and the substantia nigra. Down-regulated in renal tumors compared to normal kidney. {ECO 0000269|PubMed 12672799, ECO 0000269|PubMed 12672827}. # UCSC uc004aic human. [Q9HCF6-1] # eggNOG ENOG410XR5B LUCA # eggNOG KOG3614 Eukaryota BLAST swissprot:TRPM3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:TRPM3_HUMAN BioCyc ZFISH:ENSG00000083067-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000083067-MONOMER COXPRESdb 80036 http://coxpresdb.jp/data/gene/80036.shtml DOI 10.1038/nature02465 http://dx.doi.org/10.1038/nature02465 DOI 10.1074/jbc.M211232200 http://dx.doi.org/10.1074/jbc.M211232200 DOI 10.1074/jbc.M300945200 http://dx.doi.org/10.1074/jbc.M300945200 DOI 10.1093/dnares/7.4.271 http://dx.doi.org/10.1093/dnares/7.4.271 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1101/gr.GR1547R http://dx.doi.org/10.1101/gr.GR1547R EMBL AB046836 http://www.ebi.ac.uk/ena/data/view/AB046836 EMBL AB099661 http://www.ebi.ac.uk/ena/data/view/AB099661 EMBL AB099662 http://www.ebi.ac.uk/ena/data/view/AB099662 EMBL AB099663 http://www.ebi.ac.uk/ena/data/view/AB099663 EMBL AB099664 http://www.ebi.ac.uk/ena/data/view/AB099664 EMBL AB099665 http://www.ebi.ac.uk/ena/data/view/AB099665 EMBL AF536748 http://www.ebi.ac.uk/ena/data/view/AF536748 EMBL AF536749 http://www.ebi.ac.uk/ena/data/view/AF536749 EMBL AF536750 http://www.ebi.ac.uk/ena/data/view/AF536750 EMBL AF536751 http://www.ebi.ac.uk/ena/data/view/AF536751 EMBL AF536752 http://www.ebi.ac.uk/ena/data/view/AF536752 EMBL AF536753 http://www.ebi.ac.uk/ena/data/view/AF536753 EMBL AJ505025 http://www.ebi.ac.uk/ena/data/view/AJ505025 EMBL AJ505026 http://www.ebi.ac.uk/ena/data/view/AJ505026 EMBL AL136545 http://www.ebi.ac.uk/ena/data/view/AL136545 EMBL AL159990 http://www.ebi.ac.uk/ena/data/view/AL159990 EMBL AL159990 http://www.ebi.ac.uk/ena/data/view/AL159990 EMBL AL159990 http://www.ebi.ac.uk/ena/data/view/AL159990 EMBL AL159990 http://www.ebi.ac.uk/ena/data/view/AL159990 EMBL AL159990 http://www.ebi.ac.uk/ena/data/view/AL159990 EMBL AL159990 http://www.ebi.ac.uk/ena/data/view/AL159990 EMBL AL159990 http://www.ebi.ac.uk/ena/data/view/AL159990 EMBL AL160273 http://www.ebi.ac.uk/ena/data/view/AL160273 EMBL AL161913 http://www.ebi.ac.uk/ena/data/view/AL161913 EMBL AL161913 http://www.ebi.ac.uk/ena/data/view/AL161913 EMBL AL161913 http://www.ebi.ac.uk/ena/data/view/AL161913 EMBL AL161913 http://www.ebi.ac.uk/ena/data/view/AL161913 EMBL AL161913 http://www.ebi.ac.uk/ena/data/view/AL161913 EMBL AL356318 http://www.ebi.ac.uk/ena/data/view/AL356318 EMBL AL356318 http://www.ebi.ac.uk/ena/data/view/AL356318 EMBL AL356318 http://www.ebi.ac.uk/ena/data/view/AL356318 EMBL AL356318 http://www.ebi.ac.uk/ena/data/view/AL356318 EMBL AL356318 http://www.ebi.ac.uk/ena/data/view/AL356318 EMBL AL356318 http://www.ebi.ac.uk/ena/data/view/AL356318 EMBL AL356318 http://www.ebi.ac.uk/ena/data/view/AL356318 EMBL AL358786 http://www.ebi.ac.uk/ena/data/view/AL358786 EMBL AL358786 http://www.ebi.ac.uk/ena/data/view/AL358786 EMBL AL358786 http://www.ebi.ac.uk/ena/data/view/AL358786 EMBL AL358786 http://www.ebi.ac.uk/ena/data/view/AL358786 EMBL AL358786 http://www.ebi.ac.uk/ena/data/view/AL358786 EMBL AL391819 http://www.ebi.ac.uk/ena/data/view/AL391819 EMBL AL442645 http://www.ebi.ac.uk/ena/data/view/AL442645 EMBL AL442645 http://www.ebi.ac.uk/ena/data/view/AL442645 EMBL AL442645 http://www.ebi.ac.uk/ena/data/view/AL442645 EMBL AL442645 http://www.ebi.ac.uk/ena/data/view/AL442645 EMBL AL442645 http://www.ebi.ac.uk/ena/data/view/AL442645 EMBL AL592438 http://www.ebi.ac.uk/ena/data/view/AL592438 EMBL BC121821 http://www.ebi.ac.uk/ena/data/view/BC121821 EMBL BC134414 http://www.ebi.ac.uk/ena/data/view/BC134414 EMBL BC142972 http://www.ebi.ac.uk/ena/data/view/BC142972 Ensembl ENST00000361823 http://www.ensembl.org/id/ENST00000361823 Ensembl ENST00000377110 http://www.ensembl.org/id/ENST00000377110 Ensembl ENST00000377111 http://www.ensembl.org/id/ENST00000377111 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005227 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005227 GO_function GO:0005261 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005261 GO_function GO:0005262 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005262 GO_process GO:0006812 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006812 GO_process GO:0016048 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016048 GO_process GO:0050951 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050951 GO_process GO:0051262 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051262 GO_process GO:0070588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070588 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards TRPM3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=TRPM3 GeneID 80036 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=80036 GeneTree ENSGT00760000119127 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119127 HGNC HGNC:17992 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:17992 HOGENOM HOG000230920 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000230920&db=HOGENOM6 HOVERGEN HBG058254 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG058254&db=HOVERGEN InParanoid Q9HCF6 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9HCF6 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR029583 http://www.ebi.ac.uk/interpro/entry/IPR029583 InterPro IPR032415 http://www.ebi.ac.uk/interpro/entry/IPR032415 Jabion 80036 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=80036 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:80036 http://www.genome.jp/dbget-bin/www_bget?hsa:80036 KEGG_Orthology KO:K04978 http://www.genome.jp/dbget-bin/www_bget?KO:K04978 MIM 608961 http://www.ncbi.nlm.nih.gov/omim/608961 MINT MINT-4713703 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-4713703 PANTHER PTHR13800:SF7 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR13800:SF7 PSORT swissprot:TRPM3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:TRPM3_HUMAN PSORT-B swissprot:TRPM3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:TRPM3_HUMAN PSORT2 swissprot:TRPM3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:TRPM3_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF16519 http://pfam.xfam.org/family/PF16519 PharmGKB PA38271 http://www.pharmgkb.org/do/serve?objId=PA38271&objCls=Gene Phobius swissprot:TRPM3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:TRPM3_HUMAN PhylomeDB Q9HCF6 http://phylomedb.org/?seqid=Q9HCF6 ProteinModelPortal Q9HCF6 http://www.proteinmodelportal.org/query/uniprot/Q9HCF6 PubMed 10997877 http://www.ncbi.nlm.nih.gov/pubmed/10997877 PubMed 11230166 http://www.ncbi.nlm.nih.gov/pubmed/11230166 PubMed 12672799 http://www.ncbi.nlm.nih.gov/pubmed/12672799 PubMed 12672827 http://www.ncbi.nlm.nih.gov/pubmed/12672827 PubMed 15164053 http://www.ncbi.nlm.nih.gov/pubmed/15164053 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 Reactome R-HSA-3295583 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-3295583 RefSeq NP_001007472 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001007472 RefSeq NP_996831 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_996831 RefSeq XP_011517340 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011517340 RefSeq XP_011517341 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011517341 RefSeq XP_011517343 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011517343 RefSeq XP_011517346 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011517346 RefSeq XP_011517348 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011517348 RefSeq XP_011517349 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011517349 RefSeq XP_016870631 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016870631 STRING 9606.ENSP00000366314 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000366314&targetmode=cogs TCDB 1.A.4.5 http://www.tcdb.org/search/result.php?tc=1.A.4.5 UCSC uc004aic http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc004aic&org=rat UniGene Hs.47288 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.47288 UniProtKB TRPM3_HUMAN http://www.uniprot.org/uniprot/TRPM3_HUMAN UniProtKB-AC Q9HCF6 http://www.uniprot.org/uniprot/Q9HCF6 charge swissprot:TRPM3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:TRPM3_HUMAN eggNOG ENOG410XR5B http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XR5B eggNOG KOG3614 http://eggnogapi.embl.de/nog_data/html/tree/KOG3614 epestfind swissprot:TRPM3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:TRPM3_HUMAN garnier swissprot:TRPM3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:TRPM3_HUMAN helixturnhelix swissprot:TRPM3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:TRPM3_HUMAN hmoment swissprot:TRPM3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:TRPM3_HUMAN iep swissprot:TRPM3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:TRPM3_HUMAN inforesidue swissprot:TRPM3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:TRPM3_HUMAN neXtProt NX_Q9HCF6 http://www.nextprot.org/db/entry/NX_Q9HCF6 octanol swissprot:TRPM3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:TRPM3_HUMAN pepcoil swissprot:TRPM3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:TRPM3_HUMAN pepdigest swissprot:TRPM3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:TRPM3_HUMAN pepinfo swissprot:TRPM3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:TRPM3_HUMAN pepnet swissprot:TRPM3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:TRPM3_HUMAN pepstats swissprot:TRPM3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:TRPM3_HUMAN pepwheel swissprot:TRPM3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:TRPM3_HUMAN pepwindow swissprot:TRPM3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:TRPM3_HUMAN sigcleave swissprot:TRPM3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:TRPM3_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS DEN5B_HUMAN Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q6ZUT9-1; Sequence=Displayed; Name=2; IsoId=Q6ZUT9-2; Sequence=VSP_032673; Name=3; IsoId=Q6ZUT9-3; Sequence=VSP_032672, VSP_032675, VSP_032676; Name=4; IsoId=Q6ZUT9-4; Sequence=VSP_032674, VSP_032677, VSP_032678; # AltName DEN5B_HUMAN Rab6IP1-like protein # BioGrid 127761 3 # CCDS CCDS44857 -. [Q6ZUT9-1] # CCDS CCDS76542 -. [Q6ZUT9-2] # ChiTaRS DENND5B human # Ensembl ENST00000354285 ENSP00000346238; ENSG00000170456. [Q6ZUT9-4] # Ensembl ENST00000389082 ENSP00000373734; ENSG00000170456. [Q6ZUT9-1] # ExpressionAtlas Q6ZUT9 baseline and differential # FUNCTION DEN5B_HUMAN Guanine nucleotide exchange factor (GEF) which may activate RAB39A and/or RAB39B. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form. {ECO 0000269|PubMed 20937701}. # GO_component GO:0016020 membrane; IBA:GO_Central. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0005262 calcium channel activity; IBA:GO_Central. # GO_function GO:0017112 Rab guanyl-nucleotide exchange factor activity; IDA:UniProtKB. # GO_process GO:0050982 detection of mechanical stimulus; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0008150 biological_process # Gene3D 2.60.60.20 -; 1. # Genevisible Q6ZUT9 HS # HGNC HGNC:28338 DENND5B # InterPro IPR001024 PLAT/LH2_dom # InterPro IPR001194 DENN_dom # InterPro IPR004012 Run_dom # InterPro IPR005112 dDENN_dom # InterPro IPR005113 uDENN_dom # Organism DEN5B_HUMAN Homo sapiens (Human) # PROSITE PS50095 PLAT # PROSITE PS50211 DENN # PROSITE PS50826 RUN; 2 # PROSITE PS50946 UDENN # PROSITE PS50947 DDENN # Pfam PF01477 PLAT # Pfam PF02141 DENN # Pfam PF02759 RUN; 2 # Pfam PF03455 dDENN # Pfam PF03456 uDENN # Proteomes UP000005640 Chromosome 12 # Reactome R-HSA-8876198 RAB GEFs exchange GTP for GDP on RABs # RecName DEN5B_HUMAN DENN domain-containing protein 5B # RefSeq NP_001295268 NM_001308339.1 # RefSeq NP_659410 NM_144973.3. [Q6ZUT9-1] # SEQUENCE CAUTION Sequence=BAC04583.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the RAB6IP1 family. {ECO 0000305}. # SIMILARITY Contains 1 DENN domain. {ECO:0000255|PROSITE- ProRule PRU00304}. # SIMILARITY Contains 1 PLAT domain. {ECO:0000255|PROSITE- ProRule PRU00152}. # SIMILARITY Contains 1 dDENN domain. {ECO:0000255|PROSITE- ProRule PRU00306}. # SIMILARITY Contains 1 uDENN domain. {ECO:0000255|PROSITE- ProRule PRU00305}. # SIMILARITY Contains 2 RUN domains. {ECO:0000255|PROSITE- ProRule PRU00178}. # SMART SM00593 RUN; 2 # SMART SM00799 DENN # SMART SM00800 uDENN # SMART SM00801 dDENN # SUBCELLULAR LOCATION DEN5B_HUMAN Membrane {ECO 0000305}; Single-pass membrane protein {ECO 0000305}. # SUPFAM SSF49723 SSF49723 # UCSC uc001rki human. [Q6ZUT9-1] # eggNOG ENOG410XNYP LUCA # eggNOG KOG2080 Eukaryota BLAST swissprot:DEN5B_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:DEN5B_HUMAN COXPRESdb 160518 http://coxpresdb.jp/data/gene/160518.shtml CleanEx HS_DENND5B http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_DENND5B DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/ac9004309 http://dx.doi.org/10.1021/ac9004309 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature04569 http://dx.doi.org/10.1038/nature04569 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1073/pnas.1210303109 http://dx.doi.org/10.1073/pnas.1210303109 DOI 10.1083/jcb.201008051 http://dx.doi.org/10.1083/jcb.201008051 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 EMBL AB209341 http://www.ebi.ac.uk/ena/data/view/AB209341 EMBL AC022080 http://www.ebi.ac.uk/ena/data/view/AC022080 EMBL AC068792 http://www.ebi.ac.uk/ena/data/view/AC068792 EMBL AK095598 http://www.ebi.ac.uk/ena/data/view/AK095598 EMBL AK125323 http://www.ebi.ac.uk/ena/data/view/AK125323 EMBL BC020855 http://www.ebi.ac.uk/ena/data/view/BC020855 EMBL BC068580 http://www.ebi.ac.uk/ena/data/view/BC068580 EMBL BX537924 http://www.ebi.ac.uk/ena/data/view/BX537924 EMBL CH471116 http://www.ebi.ac.uk/ena/data/view/CH471116 EMBL CR749639 http://www.ebi.ac.uk/ena/data/view/CR749639 Ensembl ENST00000354285 http://www.ensembl.org/id/ENST00000354285 Ensembl ENST00000389082 http://www.ensembl.org/id/ENST00000389082 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005262 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005262 GO_function GO:0017112 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0017112 GO_process GO:0050982 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050982 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 Gene3D 2.60.60.20 http://www.cathdb.info/version/latest/superfamily/2.60.60.20 GeneCards DENND5B http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=DENND5B GeneID 160518 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=160518 GeneTree ENSGT00760000118819 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118819 H-InvDB HIX0010527 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0010527 HGNC HGNC:28338 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:28338 HOVERGEN HBG059906 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG059906&db=HOVERGEN HPA HPA038865 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA038865 InParanoid Q6ZUT9 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q6ZUT9 InterPro IPR001024 http://www.ebi.ac.uk/interpro/entry/IPR001024 InterPro IPR001194 http://www.ebi.ac.uk/interpro/entry/IPR001194 InterPro IPR004012 http://www.ebi.ac.uk/interpro/entry/IPR004012 InterPro IPR005112 http://www.ebi.ac.uk/interpro/entry/IPR005112 InterPro IPR005113 http://www.ebi.ac.uk/interpro/entry/IPR005113 Jabion 160518 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=160518 KEGG_Gene hsa:160518 http://www.genome.jp/dbget-bin/www_bget?hsa:160518 PROSITE PS50095 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50095 PROSITE PS50211 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50211 PROSITE PS50826 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50826 PROSITE PS50946 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50946 PROSITE PS50947 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50947 PSORT swissprot:DEN5B_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:DEN5B_HUMAN PSORT-B swissprot:DEN5B_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:DEN5B_HUMAN PSORT2 swissprot:DEN5B_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:DEN5B_HUMAN Pfam PF01477 http://pfam.xfam.org/family/PF01477 Pfam PF02141 http://pfam.xfam.org/family/PF02141 Pfam PF02759 http://pfam.xfam.org/family/PF02759 Pfam PF03455 http://pfam.xfam.org/family/PF03455 Pfam PF03456 http://pfam.xfam.org/family/PF03456 PharmGKB PA164718788 http://www.pharmgkb.org/do/serve?objId=PA164718788&objCls=Gene Phobius swissprot:DEN5B_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:DEN5B_HUMAN PhylomeDB Q6ZUT9 http://phylomedb.org/?seqid=Q6ZUT9 ProteinModelPortal Q6ZUT9 http://www.proteinmodelportal.org/query/uniprot/Q6ZUT9 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16541075 http://www.ncbi.nlm.nih.gov/pubmed/16541075 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 19413330 http://www.ncbi.nlm.nih.gov/pubmed/19413330 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 20937701 http://www.ncbi.nlm.nih.gov/pubmed/20937701 PubMed 22814378 http://www.ncbi.nlm.nih.gov/pubmed/22814378 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 Reactome R-HSA-8876198 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-8876198 RefSeq NP_001295268 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001295268 RefSeq NP_659410 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_659410 SMART SM00593 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00593 SMART SM00799 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00799 SMART SM00800 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00800 SMART SM00801 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00801 SMR Q6ZUT9 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q6ZUT9 STRING 9606.ENSP00000373734 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000373734&targetmode=cogs SUPFAM SSF49723 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF49723 UCSC uc001rki http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001rki&org=rat UniGene Hs.118166 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.118166 UniProtKB DEN5B_HUMAN http://www.uniprot.org/uniprot/DEN5B_HUMAN UniProtKB-AC Q6ZUT9 http://www.uniprot.org/uniprot/Q6ZUT9 charge swissprot:DEN5B_HUMAN http://rest.g-language.org/emboss/charge/swissprot:DEN5B_HUMAN eggNOG ENOG410XNYP http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XNYP eggNOG KOG2080 http://eggnogapi.embl.de/nog_data/html/tree/KOG2080 epestfind swissprot:DEN5B_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:DEN5B_HUMAN garnier swissprot:DEN5B_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:DEN5B_HUMAN helixturnhelix swissprot:DEN5B_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:DEN5B_HUMAN hmoment swissprot:DEN5B_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:DEN5B_HUMAN iep swissprot:DEN5B_HUMAN http://rest.g-language.org/emboss/iep/swissprot:DEN5B_HUMAN inforesidue swissprot:DEN5B_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:DEN5B_HUMAN neXtProt NX_Q6ZUT9 http://www.nextprot.org/db/entry/NX_Q6ZUT9 octanol swissprot:DEN5B_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:DEN5B_HUMAN pepcoil swissprot:DEN5B_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:DEN5B_HUMAN pepdigest swissprot:DEN5B_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:DEN5B_HUMAN pepinfo swissprot:DEN5B_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:DEN5B_HUMAN pepnet swissprot:DEN5B_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:DEN5B_HUMAN pepstats swissprot:DEN5B_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:DEN5B_HUMAN pepwheel swissprot:DEN5B_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:DEN5B_HUMAN pepwindow swissprot:DEN5B_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:DEN5B_HUMAN sigcleave swissprot:DEN5B_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:DEN5B_HUMAN ## Database ID URL or Descriptions # AltName KCNJ8_HUMAN Inward rectifier K(+) channel Kir6.1 # AltName KCNJ8_HUMAN Potassium channel, inwardly rectifying subfamily J member 8 # AltName KCNJ8_HUMAN uKATP-1 # BioGrid 109966 19 # DISEASE KCNJ8_HUMAN Hypertrichotic osteochondrodysplasia (HTOCD) [MIM 239850] A rare disorder characterized by congenital hypertrichosis, neonatal macrosomia, a distinct osteochondrodysplasia, and cardiomegaly. The hypertrichosis leads to thick scalp hair, which extends onto the forehead, and a general increase in body hair. In addition, macrocephaly and coarse facial features, including a broad nasal bridge, epicanthal folds, a wide mouth, and full lips, can be suggestive of a storage disorder. About half of affected individuals are macrosomic and edematous at birth, whereas in childhood they usually have a muscular appearance with little subcutaneous fat. Thickened calvarium, narrow thorax, wide ribs, flattened or ovoid vertebral bodies, coxa valga, osteopenia, enlarged medullary canals, and metaphyseal widening of long bones have been reported. Cardiac manifestations such as patent ductus arteriosus, ventricular hypertrophy, pulmonary hypertension, and pericardial effusions are present in approximately 80% of cases. Motor development is usually delayed due to hypotonia. Most patients have a mild speech delay, and a small percentage have learning difficulties or intellectual disability. {ECO 0000269|PubMed 24700710}. Note=The disease may be caused by mutations affecting distinct genetic loci, including the gene represented in this entry. # DISEASE KCNJ8_HUMAN Note=Defects in KCNJ8 may be associated with susceptibility to J-wave syndromes, a group of heart disorders characterized by early repolarization events as indicated by abnormal J-wave manifestation on electrocardiogram (ECG). The J point denotes the junction of the QRS complex and the ST segment on the ECG, marking the end of depolarization and the beginning of repolarization. An abnormal J wave is a deflection with a dome or hump morphology immediately following the QRS complex of the surface ECG. Examples of J-wave disorders are arrhythmias associated with an early repolarization pattern in the inferior or mid to lateral precordial leads, Brugada syndrome, some cases of idiopathic ventricular fibrillation (VF) with an early repolarization pattern in the inferior, inferolateral or global leads, as well as arrhythmias associated with hypothermia. # DISEASE KCNJ8_HUMAN Sudden infant death syndrome (SIDS) [MIM 272120] SIDS is the sudden death of an infant younger than 1 year that remains unexplained after a thorough case investigation, including performance of a complete autopsy, examination of the death scene, and review of clinical history. Pathophysiologic mechanisms for SIDS may include respiratory dysfunction, cardiac dysrhythmias, cardiorespiratory instability, and inborn errors of metabolism, but definitive pathogenic mechanisms precipitating an infant sudden death remain elusive. {ECO 0000269|PubMed 21836131}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. # DrugBank DB00914 Phenformin # DrugBank DB00922 Levosimendan # DrugBank DB01016 Glyburide # DrugBank DB01154 Thiamylal # DrugBank DB01251 Gliquidone # DrugBank DB01289 Glisoxepide # DrugBank DB01392 Yohimbine # Ensembl ENST00000240662 ENSP00000240662; ENSG00000121361 # ExpressionAtlas Q15842 baseline and differential # FUNCTION KCNJ8_HUMAN This potassium channel is controlled by G proteins. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by external barium (By similarity). {ECO 0000250}. # GO_component GO:0005739 mitochondrion; IEA:Ensembl. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0008076 voltage-gated potassium channel complex; TAS:ProtInc. # GO_component GO:0008282 ATP-sensitive potassium channel complex; IEA:Ensembl. # GO_component GO:0030016 myofibril; IEA:Ensembl. # GO_component GO:0042383 sarcolemma; IEA:Ensembl. # GO_function GO:0005242 inward rectifier potassium channel activity; TAS:ProtInc. # GO_function GO:0005524 ATP binding; IEA:Ensembl. # GO_function GO:0015272 ATP-activated inward rectifier potassium channel activity; IBA:GO_Central. # GO_process GO:0001822 kidney development; IEA:Ensembl. # GO_process GO:0006813 potassium ion transport; TAS:ProtInc. # GO_process GO:0007507 heart development; IEA:Ensembl. # GO_process GO:0009268 response to pH; IEA:Ensembl. # GO_process GO:0010107 potassium ion import; IBA:GO_Central. # GO_process GO:0032496 response to lipopolysaccharide; IEA:Ensembl. # GO_process GO:0042311 vasodilation; IEA:Ensembl. # GO_process GO:0043330 response to exogenous dsRNA; IEA:Ensembl. # GO_process GO:0051607 defense response to virus; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005739 mitochondrion # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0002376 immune system process # GOslim_process GO:0003013 circulatory system process # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0008150 biological_process # GOslim_process GO:0044403 symbiosis, encompassing mutualism through parasitism # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0055085 transmembrane transport # Gene3D 2.60.40.1400 -; 1. # Genevisible Q15842 HS # HGNC HGNC:6269 KCNJ8 # InterPro IPR003278 K_chnl_inward-rec_Kir6.1 # InterPro IPR013518 K_chnl_inward-rec_Kir_cyto # InterPro IPR014756 Ig_E-set # InterPro IPR016449 K_chnl_inward-rec_Kir # KEGG_Brite ko04040 Ion channels # MIM 239850 phenotype # MIM 272120 phenotype # MIM 600935 gene # Organism KCNJ8_HUMAN Homo sapiens (Human) # Orphanet 130 Brugada syndrome # Orphanet 1517 Hypertrichotic osteochondrodysplasia, Cantu type # PANTHER PTHR11767 PTHR11767 # PIRSF PIRSF005465 GIRK_kir # PRINTS PR01320 KIRCHANNEL # PRINTS PR01331 KIR61CHANNEL # Pfam PF01007 IRK # Proteomes UP000005640 Chromosome 12 # Reactome R-HSA-1296025 ATP sensitive Potassium channels # RecName KCNJ8_HUMAN ATP-sensitive inward rectifier potassium channel 8 # RefSeq NP_004973 NM_004982.3 # RefSeq XP_005253415 XM_005253358.4 # RefSeq XP_016874772 XM_017019283.1 # RefSeq XP_016874773 XM_017019284.1 # SIMILARITY Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ8 subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION KCNJ8_HUMAN Membrane; Multi-pass membrane protein. # SUPFAM SSF81296 SSF81296 # TCDB 1.A.2.1.13 inward rectifier k(+) channel (irk-c) family # TISSUE SPECIFICITY Predominantly detected in fetal and adult heart. {ECO:0000269|PubMed 9573340}. # UCSC uc001rff human # eggNOG ENOG410XQ62 LUCA # eggNOG KOG3827 Eukaryota BLAST swissprot:KCNJ8_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCNJ8_HUMAN BioCyc ZFISH:ENSG00000121361-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000121361-MONOMER COXPRESdb 3764 http://coxpresdb.jp/data/gene/3764.shtml CleanEx HS_KCNJ8 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNJ8 DOI 10.1002/humu.22555 http://dx.doi.org/10.1002/humu.22555 DOI 10.1006/geno.1995.0018 http://dx.doi.org/10.1006/geno.1995.0018 DOI 10.1016/S0378-1119(98)00086-9 http://dx.doi.org/10.1016/S0378-1119(98)00086-9 DOI 10.1016/j.hrthm.2009.12.006 http://dx.doi.org/10.1016/j.hrthm.2009.12.006 DOI 10.1016/j.hrthm.2010.06.016 http://dx.doi.org/10.1016/j.hrthm.2010.06.016 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1161/CIRCGENETICS.111.960195 http://dx.doi.org/10.1161/CIRCGENETICS.111.960195 DrugBank DB00914 http://www.drugbank.ca/drugs/DB00914 DrugBank DB00922 http://www.drugbank.ca/drugs/DB00922 DrugBank DB01016 http://www.drugbank.ca/drugs/DB01016 DrugBank DB01154 http://www.drugbank.ca/drugs/DB01154 DrugBank DB01251 http://www.drugbank.ca/drugs/DB01251 DrugBank DB01289 http://www.drugbank.ca/drugs/DB01289 DrugBank DB01392 http://www.drugbank.ca/drugs/DB01392 EMBL BC000544 http://www.ebi.ac.uk/ena/data/view/BC000544 EMBL D50312 http://www.ebi.ac.uk/ena/data/view/D50312 EMBL D50315 http://www.ebi.ac.uk/ena/data/view/D50315 Ensembl ENST00000240662 http://www.ensembl.org/id/ENST00000240662 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0008076 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008076 GO_component GO:0008282 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008282 GO_component GO:0030016 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030016 GO_component GO:0042383 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042383 GO_function GO:0005242 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005242 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0015272 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015272 GO_process GO:0001822 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001822 GO_process GO:0006813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006813 GO_process GO:0007507 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007507 GO_process GO:0009268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009268 GO_process GO:0010107 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010107 GO_process GO:0032496 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032496 GO_process GO:0042311 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042311 GO_process GO:0043330 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043330 GO_process GO:0051607 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051607 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0002376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002376 GOslim_process GO:0003013 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003013 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0044403 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044403 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 2.60.40.1400 http://www.cathdb.info/version/latest/superfamily/2.60.40.1400 GeneCards KCNJ8 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNJ8 GeneID 3764 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=3764 GeneTree ENSGT00760000118842 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118842 HGNC HGNC:6269 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6269 HOGENOM HOG000237325 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000237325&db=HOGENOM6 HOVERGEN HBG006178 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG006178&db=HOVERGEN HPA HPA031066 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA031066 InParanoid Q15842 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q15842 InterPro IPR003278 http://www.ebi.ac.uk/interpro/entry/IPR003278 InterPro IPR013518 http://www.ebi.ac.uk/interpro/entry/IPR013518 InterPro IPR014756 http://www.ebi.ac.uk/interpro/entry/IPR014756 InterPro IPR016449 http://www.ebi.ac.uk/interpro/entry/IPR016449 Jabion 3764 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=3764 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:3764 http://www.genome.jp/dbget-bin/www_bget?hsa:3764 KEGG_Orthology KO:K05001 http://www.genome.jp/dbget-bin/www_bget?KO:K05001 MIM 239850 http://www.ncbi.nlm.nih.gov/omim/239850 MIM 272120 http://www.ncbi.nlm.nih.gov/omim/272120 MIM 600935 http://www.ncbi.nlm.nih.gov/omim/600935 OMA AMELQCS http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=AMELQCS Orphanet 130 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=130 Orphanet 1517 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1517 OrthoDB EOG091G08HC http://cegg.unige.ch/orthodb/results?searchtext=EOG091G08HC PANTHER PTHR11767 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11767 PRINTS PR01320 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01320 PRINTS PR01331 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01331 PSORT swissprot:KCNJ8_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCNJ8_HUMAN PSORT-B swissprot:KCNJ8_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCNJ8_HUMAN PSORT2 swissprot:KCNJ8_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCNJ8_HUMAN Pfam PF01007 http://pfam.xfam.org/family/PF01007 PharmGKB PA30050 http://www.pharmgkb.org/do/serve?objId=PA30050&objCls=Gene Phobius swissprot:KCNJ8_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCNJ8_HUMAN PhylomeDB Q15842 http://phylomedb.org/?seqid=Q15842 ProteinModelPortal Q15842 http://www.proteinmodelportal.org/query/uniprot/Q15842 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 20153265 http://www.ncbi.nlm.nih.gov/pubmed/20153265 PubMed 20558321 http://www.ncbi.nlm.nih.gov/pubmed/20558321 PubMed 21836131 http://www.ncbi.nlm.nih.gov/pubmed/21836131 PubMed 24700710 http://www.ncbi.nlm.nih.gov/pubmed/24700710 PubMed 8595887 http://www.ncbi.nlm.nih.gov/pubmed/8595887 PubMed 9573340 http://www.ncbi.nlm.nih.gov/pubmed/9573340 Reactome R-HSA-1296025 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1296025 RefSeq NP_004973 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004973 RefSeq XP_005253415 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005253415 RefSeq XP_016874772 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016874772 RefSeq XP_016874773 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016874773 SMR Q15842 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q15842 STRING 9606.ENSP00000240662 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000240662&targetmode=cogs SUPFAM SSF81296 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81296 TCDB 1.A.2.1.13 http://www.tcdb.org/search/result.php?tc=1.A.2.1.13 UCSC uc001rff http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001rff&org=rat UniGene Hs.102308 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.102308 UniGene Hs.619408 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.619408 UniGene Hs.741642 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.741642 UniProtKB KCNJ8_HUMAN http://www.uniprot.org/uniprot/KCNJ8_HUMAN UniProtKB-AC Q15842 http://www.uniprot.org/uniprot/Q15842 charge swissprot:KCNJ8_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCNJ8_HUMAN eggNOG ENOG410XQ62 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XQ62 eggNOG KOG3827 http://eggnogapi.embl.de/nog_data/html/tree/KOG3827 epestfind swissprot:KCNJ8_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCNJ8_HUMAN garnier swissprot:KCNJ8_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCNJ8_HUMAN helixturnhelix swissprot:KCNJ8_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCNJ8_HUMAN hmoment swissprot:KCNJ8_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCNJ8_HUMAN iep swissprot:KCNJ8_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCNJ8_HUMAN inforesidue swissprot:KCNJ8_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCNJ8_HUMAN neXtProt NX_Q15842 http://www.nextprot.org/db/entry/NX_Q15842 octanol swissprot:KCNJ8_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCNJ8_HUMAN pepcoil swissprot:KCNJ8_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCNJ8_HUMAN pepdigest swissprot:KCNJ8_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCNJ8_HUMAN pepinfo swissprot:KCNJ8_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCNJ8_HUMAN pepnet swissprot:KCNJ8_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCNJ8_HUMAN pepstats swissprot:KCNJ8_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCNJ8_HUMAN pepwheel swissprot:KCNJ8_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCNJ8_HUMAN pepwindow swissprot:KCNJ8_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCNJ8_HUMAN sigcleave swissprot:KCNJ8_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCNJ8_HUMAN ## Database ID URL or Descriptions # AltName S38A4_HUMAN Amino acid transporter A3 # AltName S38A4_HUMAN Na(+)-coupled neutral amino acid transporter 4 # AltName S38A4_HUMAN Solute carrier family 38 member 4 # AltName S38A4_HUMAN System A amino acid transporter 3 # AltName S38A4_HUMAN System N amino acid transporter 3 # BIOPHYSICOCHEMICAL PROPERTIES pH dependence: Optimum pH is 7.5-8.5. {ECO 0000269|PubMed:11342143}; # Ensembl ENST00000266579 ENSP00000266579; ENSG00000139209 # Ensembl ENST00000447411 ENSP00000389843; ENSG00000139209 # ExpressionAtlas Q969I6 baseline and differential # FUNCTION S38A4_HUMAN Sodium-dependent amino acid transporter. Mediates electrogenic symport of neutral amino acids and sodium ions. Has a broad specificity, with a preference for Ala, followed by His, Cys, Asn, Ser, Gly, Val, Thr, Gln and Met. May mediate sodium- independent transport of cationic amino acids, such as Arg and Lys. Amino acid uptake is pH-dependent, with low transport activities at pH 6.5, intermediate at pH 7.0 and highest between pH 7.5 and 8.5. {ECO 0000269|PubMed 11342143, ECO 0000269|PubMed 11414754}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_function GO:0015171 amino acid transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015293 symporter activity; IEA:UniProtKB-KW. # GO_process GO:0003333 amino acid transmembrane transport; IBA:GO_Central. # GO_process GO:0006814 sodium ion transport; IEA:UniProtKB-KW. # GO_process GO:0006865 amino acid transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0055085 transmembrane transport # Genevisible Q969I6 HS # HGNC HGNC:14679 SLC38A4 # InterPro IPR013057 AA_transpt_TM # KEGG_Brite ko02001 Solute carrier family # MIM 608065 gene # Organism S38A4_HUMAN Homo sapiens (Human) # PTM S38A4_HUMAN The disulfide bond plays an important role in substrate transport, but has no effect on trafficking to the cell surface. {ECO 0000250}. # Pfam PF01490 Aa_trans; 2 # Proteomes UP000005640 Chromosome 12 # Reactome R-HSA-352230 Amino acid transport across the plasma membrane # RecName S38A4_HUMAN Sodium-coupled neutral amino acid transporter 4 # RefSeq NP_001137296 NM_001143824.1 # RefSeq NP_060488 NM_018018.4 # RefSeq XP_005269054 XM_005268997.2 # SIMILARITY Belongs to the amino acid/polyamine transporter 2 family. {ECO 0000305}. # SUBCELLULAR LOCATION S38A4_HUMAN Cell membrane {ECO 0000269|PubMed 11414754, ECO 0000269|PubMed 16148032}; Multi-pass membrane protein {ECO 0000269|PubMed 11414754, ECO 0000269|PubMed 16148032}. # TCDB 2.A.18.6.17 the amino acid/auxin permease (aaap) family # TISSUE SPECIFICITY S38A4_HUMAN Detected in embryonic and adult liver, and at lower levels in adult muscle, kidney and pancreas. Detected in placenta syncytiotrophoblasts throughout gestation. Detected in fetal blood vessels. {ECO 0000269|PubMed 11342143, ECO 0000269|PubMed 11414754, ECO 0000269|PubMed 16148032}. # UCSC uc001rpi human # eggNOG COG0814 LUCA # eggNOG KOG1305 Eukaryota BLAST swissprot:S38A4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S38A4_HUMAN BioCyc ZFISH:ENSG00000139209-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000139209-MONOMER COXPRESdb 55089 http://coxpresdb.jp/data/gene/55089.shtml CleanEx HS_SLC38A4 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC38A4 DOI 10.1006/geno.2001.6567 http://dx.doi.org/10.1006/geno.2001.6567 DOI 10.1007/s00424-003-1117-9 http://dx.doi.org/10.1007/s00424-003-1117-9 DOI 10.1016/S0005-2736(00)00390-4 http://dx.doi.org/10.1016/S0005-2736(00)00390-4 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.M111.220277 http://dx.doi.org/10.1074/jbc.M111.220277 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1152/ajpcell.00258.2005 http://dx.doi.org/10.1152/ajpcell.00258.2005 EMBL AB055003 http://www.ebi.ac.uk/ena/data/view/AB055003 EMBL AF193836 http://www.ebi.ac.uk/ena/data/view/AF193836 EMBL AF305814 http://www.ebi.ac.uk/ena/data/view/AF305814 EMBL AK291168 http://www.ebi.ac.uk/ena/data/view/AK291168 EMBL BC069819 http://www.ebi.ac.uk/ena/data/view/BC069819 EMBL BC101827 http://www.ebi.ac.uk/ena/data/view/BC101827 EMBL BC104913 http://www.ebi.ac.uk/ena/data/view/BC104913 EMBL CH471111 http://www.ebi.ac.uk/ena/data/view/CH471111 Ensembl ENST00000266579 http://www.ensembl.org/id/ENST00000266579 Ensembl ENST00000447411 http://www.ensembl.org/id/ENST00000447411 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0015171 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015171 GO_function GO:0015293 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015293 GO_process GO:0003333 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003333 GO_process GO:0006814 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006814 GO_process GO:0006865 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006865 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC38A4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC38A4 GeneID 55089 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=55089 GeneTree ENSGT00760000119147 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119147 HGNC HGNC:14679 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:14679 HOGENOM HOG000013088 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000013088&db=HOGENOM6 HOVERGEN HBG059571 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG059571&db=HOVERGEN InParanoid Q969I6 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q969I6 InterPro IPR013057 http://www.ebi.ac.uk/interpro/entry/IPR013057 Jabion 55089 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=55089 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:55089 http://www.genome.jp/dbget-bin/www_bget?hsa:55089 KEGG_Orthology KO:K14991 http://www.genome.jp/dbget-bin/www_bget?KO:K14991 MIM 608065 http://www.ncbi.nlm.nih.gov/omim/608065 OMA NTLPMHV http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=NTLPMHV OrthoDB EOG091G0GP8 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0GP8 PSORT swissprot:S38A4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S38A4_HUMAN PSORT-B swissprot:S38A4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S38A4_HUMAN PSORT2 swissprot:S38A4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S38A4_HUMAN Pfam PF01490 http://pfam.xfam.org/family/PF01490 PharmGKB PA37908 http://www.pharmgkb.org/do/serve?objId=PA37908&objCls=Gene Phobius swissprot:S38A4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S38A4_HUMAN PhylomeDB Q969I6 http://phylomedb.org/?seqid=Q969I6 ProteinModelPortal Q969I6 http://www.proteinmodelportal.org/query/uniprot/Q969I6 PubMed 11342143 http://www.ncbi.nlm.nih.gov/pubmed/11342143 PubMed 11414754 http://www.ncbi.nlm.nih.gov/pubmed/11414754 PubMed 12845534 http://www.ncbi.nlm.nih.gov/pubmed/12845534 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16148032 http://www.ncbi.nlm.nih.gov/pubmed/16148032 PubMed 21917917 http://www.ncbi.nlm.nih.gov/pubmed/21917917 Reactome R-HSA-352230 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-352230 RefSeq NP_001137296 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001137296 RefSeq NP_060488 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_060488 RefSeq XP_005269054 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005269054 STRING 9606.ENSP00000266579 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000266579&targetmode=cogs TCDB 2.A.18.6.17 http://www.tcdb.org/search/result.php?tc=2.A.18.6.17 UCSC uc001rpi http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001rpi&org=rat UniGene Hs.446077 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.446077 UniProtKB S38A4_HUMAN http://www.uniprot.org/uniprot/S38A4_HUMAN UniProtKB-AC Q969I6 http://www.uniprot.org/uniprot/Q969I6 charge swissprot:S38A4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S38A4_HUMAN eggNOG COG0814 http://eggnogapi.embl.de/nog_data/html/tree/COG0814 eggNOG KOG1305 http://eggnogapi.embl.de/nog_data/html/tree/KOG1305 epestfind swissprot:S38A4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S38A4_HUMAN garnier swissprot:S38A4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S38A4_HUMAN helixturnhelix swissprot:S38A4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S38A4_HUMAN hmoment swissprot:S38A4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S38A4_HUMAN iep swissprot:S38A4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S38A4_HUMAN inforesidue swissprot:S38A4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S38A4_HUMAN neXtProt NX_Q969I6 http://www.nextprot.org/db/entry/NX_Q969I6 octanol swissprot:S38A4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S38A4_HUMAN pepcoil swissprot:S38A4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S38A4_HUMAN pepdigest swissprot:S38A4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S38A4_HUMAN pepinfo swissprot:S38A4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S38A4_HUMAN pepnet swissprot:S38A4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S38A4_HUMAN pepstats swissprot:S38A4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S38A4_HUMAN pepwheel swissprot:S38A4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S38A4_HUMAN pepwindow swissprot:S38A4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S38A4_HUMAN sigcleave swissprot:S38A4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S38A4_HUMAN ## Database ID URL or Descriptions # AltName MIP_HUMAN Aquaporin-0 # AltName MIP_HUMAN MIP26 # BioGrid 110430 5 # CDD cd00333 MIP # DISEASE MIP_HUMAN Cataract 15, multiple types (CTRCT15) [MIM 615274] An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT15 includes polymorphic, progressive punctate lamellar, cortical, anterior and posterior polar, nonprogressive lamellar with sutural opacities, embryonic nuclear, and pulverulent cortical, among others. {ECO 0000269|PubMed 10802646, ECO 0000269|PubMed 11001937, ECO 0000269|PubMed 16564824, ECO 0000269|PubMed 17893667, ECO 0000269|PubMed 17960133, ECO 0000269|PubMed 20361015, ECO 0000269|PubMed 21245956, ECO 0000269|PubMed 23116563, ECO 0000269|PubMed 24120416, ECO 0000269|PubMed 25946197}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DOMAIN MIP_HUMAN Aquaporins contain two tandem repeats each containing two membrane-spanning helices and a pore-forming loop with the signature motif Asn-Pro-Ala (NPA). Each tandem repeat contains a loop and a short helix that enter and leave the lipid bilayer on the same side (By similarity). {ECO 0000250}. # Ensembl ENST00000257979 ENSP00000257979; ENSG00000135517 # FUNCTION MIP_HUMAN Water channel (PubMed 24120416). Channel activity is down-regulated by CALM when cytoplasmic Ca(2+) levels are increased. May be responsible for regulating the osmolarity of the lens. Interactions between homotetramers from adjoining membranes may stabilize cell junctions in the eye lens core (By similarity). Plays a role in cell-to-cell adhesion and facilitates gap junction coupling (PubMed 24120416). {ECO 0000250|UniProtKB Q6J8I9, ECO 0000269|PubMed 24120416}. # GO_component GO:0005783 endoplasmic reticulum; IDA:UniProtKB. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0005887 integral component of plasma membrane; ISS:UniProtKB. # GO_component GO:0005921 gap junction; IEA:UniProtKB-SubCell. # GO_component GO:0016324 apical plasma membrane; IBA:GO_Central. # GO_function GO:0005212 structural constituent of eye lens; IEA:UniProtKB-KW. # GO_function GO:0005215 transporter activity; TAS:ProtInc. # GO_function GO:0005243 gap junction channel activity; IDA:UniProtKB. # GO_function GO:0005516 calmodulin binding; ISS:UniProtKB. # GO_function GO:0015250 water channel activity; IDA:UniProtKB. # GO_function GO:0015254 glycerol channel activity; IBA:GO_Central. # GO_process GO:0002088 lens development in camera-type eye; IEA:Ensembl. # GO_process GO:0006833 water transport; ISS:UniProtKB. # GO_process GO:0007601 visual perception; IEA:UniProtKB-KW. # GO_process GO:0009992 cellular water homeostasis; IBA:GO_Central. # GO_process GO:0034220 ion transmembrane transport; IBA:GO_Central. # GO_process GO:0045785 positive regulation of cell adhesion; IDA:UniProtKB. # GO_process GO:0050896 response to stimulus; IEA:UniProtKB-KW. # GO_process GO:0051289 protein homotetramerization; IDA:UniProtKB. # GO_process GO:1990349 gap junction-mediated intercellular transport; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0005198 structural molecule activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0050877 neurological system process # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.20.1080.10 -; 1. # Genevisible P30301 HS # HGNC HGNC:7103 MIP # IntAct P30301 4 # InterPro IPR000425 MIP # InterPro IPR022357 MIP_CS # InterPro IPR023271 Aquaporin-like # KEGG_Brite ko04040 Ion channels # KEGG_Disease H01202 [Eye disease] Cataract # MIM 154050 gene # MIM 615274 phenotype # Organism MIP_HUMAN Homo sapiens (Human) # Orphanet 98985 Cataract with Y-shaped suture opacities # Orphanet 98989 Cerulean cataract # Orphanet 98991 Nuclear cataract # Orphanet 98994 Total congenital cataract # Orphanet 98995 Zonular cataract # PANTHER PTHR19139 PTHR19139 # PIR A55279 A55279 # PRINTS PR00783 MINTRINSICP # PROSITE PS00221 MIP # PTM MIP_HUMAN Subject to partial proteolytic cleavage in the eye lens core. Partial proteolysis promotes interactions between tetramers from adjoining membranes (By similarity). {ECO 0000250}. # Pfam PF00230 MIP # Proteomes UP000005640 Chromosome 12 # Reactome R-HSA-432047 Passive transport by Aquaporins # RecName MIP_HUMAN Lens fiber major intrinsic protein # RefSeq NP_036196 NM_012064.3 # SIMILARITY Belongs to the MIP/aquaporin (TC 1.A.8) family. {ECO 0000305}. # SUBCELLULAR LOCATION MIP_HUMAN Cell membrane {ECO 0000269|PubMed 23116563, ECO 0000269|PubMed 24120416, ECO 0000269|PubMed 25946197}; Multi- pass membrane protein {ECO 0000250|UniProtKB Q6J8I9}. Cell junction, gap junction {ECO 0000269|PubMed 24120416}. # SUBUNIT MIP_HUMAN Homotetramer (PubMed 24120416). Homooctamer formed by head-to-head interaction between homotetramers from adjoining membranes. Interacts with CALM; one CALM molecule interacts with the cytoplasmic domains of two aquaporins, leading to channel closure (By similarity). {ECO 0000250|UniProtKB P06624, ECO 0000269|PubMed 24120416}. # SUPFAM SSF81338 SSF81338 # TIGRFAMs TIGR00861 MIP # TISSUE SPECIFICITY MIP_HUMAN Major component of lens fiber gap junctions. # UCSC uc001slh human # eggNOG COG0580 LUCA # eggNOG KOG0223 Eukaryota BLAST swissprot:MIP_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:MIP_HUMAN BioCyc ZFISH:ENSG00000135517-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000135517-MONOMER COXPRESdb 4284 http://coxpresdb.jp/data/gene/4284.shtml CleanEx HS_MIP http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_MIP DOI 10.1016/0888-7543(91)90023-8 http://dx.doi.org/10.1016/0888-7543(91)90023-8 DOI 10.1016/j.ajo.2005.11.008 http://dx.doi.org/10.1016/j.ajo.2005.11.008 DOI 10.1016/j.exer.2012.10.010 http://dx.doi.org/10.1016/j.exer.2012.10.010 DOI 10.1016/j.exer.2013.09.019 http://dx.doi.org/10.1016/j.exer.2013.09.019 DOI 10.1038/75538 http://dx.doi.org/10.1038/75538 DOI 10.1038/nature04569 http://dx.doi.org/10.1038/nature04569 DOI 10.1093/oxfordjournals.hmg.a018925 http://dx.doi.org/10.1093/oxfordjournals.hmg.a018925 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1371/journal.pone.0126679 http://dx.doi.org/10.1371/journal.pone.0126679 EMBL AC024884 http://www.ebi.ac.uk/ena/data/view/AC024884 EMBL BC074913 http://www.ebi.ac.uk/ena/data/view/BC074913 EMBL BC117474 http://www.ebi.ac.uk/ena/data/view/BC117474 EMBL U36308 http://www.ebi.ac.uk/ena/data/view/U36308 Ensembl ENST00000257979 http://www.ensembl.org/id/ENST00000257979 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0005921 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005921 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_function GO:0005212 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005212 GO_function GO:0005215 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005215 GO_function GO:0005243 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005243 GO_function GO:0005516 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005516 GO_function GO:0015250 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015250 GO_function GO:0015254 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015254 GO_process GO:0002088 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002088 GO_process GO:0006833 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006833 GO_process GO:0007601 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007601 GO_process GO:0009992 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009992 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0045785 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045785 GO_process GO:0050896 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050896 GO_process GO:0051289 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051289 GO_process GO:1990349 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1990349 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0005198 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005198 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.20.1080.10 http://www.cathdb.info/version/latest/superfamily/1.20.1080.10 GeneCards MIP http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=MIP GeneID 4284 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=4284 GeneTree ENSGT00760000119223 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119223 HGNC HGNC:7103 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:7103 HOGENOM HOG000288286 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000288286&db=HOGENOM6 HOVERGEN HBG000312 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG000312&db=HOVERGEN InParanoid P30301 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P30301 IntAct P30301 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P30301* InterPro IPR000425 http://www.ebi.ac.uk/interpro/entry/IPR000425 InterPro IPR022357 http://www.ebi.ac.uk/interpro/entry/IPR022357 InterPro IPR023271 http://www.ebi.ac.uk/interpro/entry/IPR023271 Jabion 4284 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=4284 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H01202 http://www.genome.jp/dbget-bin/www_bget?H01202 KEGG_Gene hsa:4284 http://www.genome.jp/dbget-bin/www_bget?hsa:4284 KEGG_Orthology KO:K09863 http://www.genome.jp/dbget-bin/www_bget?KO:K09863 MIM 154050 http://www.ncbi.nlm.nih.gov/omim/154050 MIM 615274 http://www.ncbi.nlm.nih.gov/omim/615274 MINT MINT-8415310 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-8415310 OMA MWELRST http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=MWELRST Orphanet 98985 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=98985 Orphanet 98989 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=98989 Orphanet 98991 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=98991 Orphanet 98994 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=98994 Orphanet 98995 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=98995 OrthoDB EOG091G166T http://cegg.unige.ch/orthodb/results?searchtext=EOG091G166T PANTHER PTHR19139 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR19139 PRINTS PR00783 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00783 PROSITE PS00221 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00221 PSORT swissprot:MIP_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:MIP_HUMAN PSORT-B swissprot:MIP_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:MIP_HUMAN PSORT2 swissprot:MIP_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:MIP_HUMAN Pfam PF00230 http://pfam.xfam.org/family/PF00230 PharmGKB PA30821 http://www.pharmgkb.org/do/serve?objId=PA30821&objCls=Gene Phobius swissprot:MIP_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:MIP_HUMAN PhylomeDB P30301 http://phylomedb.org/?seqid=P30301 ProteinModelPortal P30301 http://www.proteinmodelportal.org/query/uniprot/P30301 PubMed 10634618 http://www.ncbi.nlm.nih.gov/pubmed/10634618 PubMed 10802646 http://www.ncbi.nlm.nih.gov/pubmed/10802646 PubMed 11001937 http://www.ncbi.nlm.nih.gov/pubmed/11001937 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16541075 http://www.ncbi.nlm.nih.gov/pubmed/16541075 PubMed 16564824 http://www.ncbi.nlm.nih.gov/pubmed/16564824 PubMed 17893667 http://www.ncbi.nlm.nih.gov/pubmed/17893667 PubMed 17960133 http://www.ncbi.nlm.nih.gov/pubmed/17960133 PubMed 1840563 http://www.ncbi.nlm.nih.gov/pubmed/1840563 PubMed 20361015 http://www.ncbi.nlm.nih.gov/pubmed/20361015 PubMed 21245956 http://www.ncbi.nlm.nih.gov/pubmed/21245956 PubMed 23116563 http://www.ncbi.nlm.nih.gov/pubmed/23116563 PubMed 24120416 http://www.ncbi.nlm.nih.gov/pubmed/24120416 PubMed 25946197 http://www.ncbi.nlm.nih.gov/pubmed/25946197 Reactome R-HSA-432047 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-432047 RefSeq NP_036196 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_036196 SMR P30301 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P30301 STRING 9606.ENSP00000257979 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000257979&targetmode=cogs SUPFAM SSF81338 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81338 TIGRFAMs TIGR00861 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00861 UCSC uc001slh http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001slh&org=rat UniGene Hs.574026 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.574026 UniProtKB MIP_HUMAN http://www.uniprot.org/uniprot/MIP_HUMAN UniProtKB-AC P30301 http://www.uniprot.org/uniprot/P30301 charge swissprot:MIP_HUMAN http://rest.g-language.org/emboss/charge/swissprot:MIP_HUMAN eggNOG COG0580 http://eggnogapi.embl.de/nog_data/html/tree/COG0580 eggNOG KOG0223 http://eggnogapi.embl.de/nog_data/html/tree/KOG0223 epestfind swissprot:MIP_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:MIP_HUMAN garnier swissprot:MIP_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:MIP_HUMAN helixturnhelix swissprot:MIP_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:MIP_HUMAN hmoment swissprot:MIP_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:MIP_HUMAN iep swissprot:MIP_HUMAN http://rest.g-language.org/emboss/iep/swissprot:MIP_HUMAN inforesidue swissprot:MIP_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:MIP_HUMAN neXtProt NX_P30301 http://www.nextprot.org/db/entry/NX_P30301 octanol swissprot:MIP_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:MIP_HUMAN pepcoil swissprot:MIP_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:MIP_HUMAN pepdigest swissprot:MIP_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:MIP_HUMAN pepinfo swissprot:MIP_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:MIP_HUMAN pepnet swissprot:MIP_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:MIP_HUMAN pepstats swissprot:MIP_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:MIP_HUMAN pepwheel swissprot:MIP_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:MIP_HUMAN pepwindow swissprot:MIP_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:MIP_HUMAN sigcleave swissprot:MIP_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:MIP_HUMAN ## Database ID URL or Descriptions # AltName GBRA1_HUMAN GABA(A) receptor subunit alpha-1 # BioGrid 108828 8 # DISEASE GBRA1_HUMAN Epilepsy, childhood absence 4 (ECA4) [MIM 611136] A subtype of idiopathic generalized epilepsy characterized by an onset at age 6-7 years, frequent absence seizures (several per day) and bilateral, synchronous, symmetric 3-Hz spike waves on EEG. Tonic-clonic seizures often develop in adolescence. Absence seizures may either remit or persist into adulthood. {ECO 0000269|PubMed 16718694}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. # DISEASE GBRA1_HUMAN Epilepsy, idiopathic generalized 13 (EIG13) [MIM 611136] A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. Seizure types include juvenile myoclonic seizures, absence seizures, and generalized tonic-clonic seizures. {ECO 0000269|PubMed 21714819}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. # DISEASE GBRA1_HUMAN Epileptic encephalopathy, early infantile, 19 (EIEE19) [MIM 615744] A severe neurologic disorder characterized by onset of seizures in the first months of life and usually associated with EEG abnormalities. Affected infants have convulsive seizures (hemiclonic or generalized) that are often prolonged and triggered by fever. Other seizure types include focal, myoclonic, absence seizures, and drop attacks. Development is normal in the first year of life with later slowing and intellectual disability. {ECO 0000269|PubMed 24623842}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE GBRA1_HUMAN Juvenile myoclonic epilepsy 5 (EJM5) [MIM 611136] A subtype of idiopathic generalized epilepsy. Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue. {ECO 0000269|PubMed 11992121}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. # DrugBank DB00186 Lorazepam # DrugBank DB00189 Ethchlorvynol # DrugBank DB00228 Enflurane # DrugBank DB00231 Temazepam # DrugBank DB00237 Butabarbital # DrugBank DB00241 Butalbital # DrugBank DB00273 Topiramate # DrugBank DB00292 Etomidate # DrugBank DB00306 Talbutal # DrugBank DB00312 Pentobarbital # DrugBank DB00334 Olanzapine # DrugBank DB00349 Clobazam # DrugBank DB00371 Meprobamate # DrugBank DB00402 Eszopiclone # DrugBank DB00404 Alprazolam # DrugBank DB00418 Secobarbital # DrugBank DB00425 Zolpidem # DrugBank DB00474 Methohexital # DrugBank DB00475 Chlordiazepoxide # DrugBank DB00543 Amoxapine # DrugBank DB00546 Adinazolam # DrugBank DB00599 Thiopental # DrugBank DB00628 Clorazepate # DrugBank DB00659 Acamprosate # DrugBank DB00683 Midazolam # DrugBank DB00690 Flurazepam # DrugBank DB00753 Isoflurane # DrugBank DB00794 Primidone # DrugBank DB00801 Halazepam # DrugBank DB00818 Propofol # DrugBank DB00829 Diazepam # DrugBank DB00837 Progabide # DrugBank DB00842 Oxazepam # DrugBank DB00849 Methylphenobarbital # DrugBank DB00897 Triazolam # DrugBank DB00898 Ethanol # DrugBank DB00962 Zaleplon # DrugBank DB01028 Methoxyflurane # DrugBank DB01049 Ergoloid mesylate # DrugBank DB01068 Clonazepam # DrugBank DB01107 Methyprylon # DrugBank DB01154 Thiamylal # DrugBank DB01159 Halothane # DrugBank DB01174 Phenobarbital # DrugBank DB01189 Desflurane # DrugBank DB01198 Zopiclone # DrugBank DB01205 Flumazenil # DrugBank DB01215 Estazolam # DrugBank DB01236 Sevoflurane # DrugBank DB01346 Quinidine barbiturate # DrugBank DB01351 Amobarbital # DrugBank DB01352 Aprobarbital # DrugBank DB01353 Butethal # DrugBank DB01354 Heptabarbital # DrugBank DB01355 Hexobarbital # DrugBank DB01381 Ginkgo biloba # DrugBank DB01437 Glutethimide # DrugBank DB01558 Bromazepam # DrugBank DB01559 Clotiazepam # DrugBank DB01567 Fludiazepam # DrugBank DB01587 Ketazolam # DrugBank DB01588 Prazepam # DrugBank DB01589 Quazepam # DrugBank DB01594 Cinolazepam # DrugBank DB01595 Nitrazepam # Ensembl ENST00000023897 ENSP00000023897; ENSG00000022355 # Ensembl ENST00000393943 ENSP00000377517; ENSG00000022355 # Ensembl ENST00000428797 ENSP00000393097; ENSG00000022355 # Ensembl ENST00000437025 ENSP00000415441; ENSG00000022355 # Ensembl ENST00000635880 ENSP00000489738; ENSG00000022355 # Ensembl ENST00000636573 ENSP00000490320; ENSG00000022355 # Ensembl ENST00000637827 ENSP00000490804; ENSG00000022355 # Ensembl ENST00000638112 ENSP00000489839; ENSG00000022355 # ExpressionAtlas P14867 baseline and differential # FUNCTION GBRA1_HUMAN Component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the vertebrate brain. Functions also as histamine receptor and mediates cellular responses to histamine. Functions as receptor for diazepines and various anesthetics, such as pentobarbital; these are bound at a separate allosteric effector binding site. Functions as ligand- gated chloride channel (By similarity). {ECO 0000250}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; ISS:BHF-UCL. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0034707 chloride channel complex; IEA:UniProtKB-KW. # GO_component GO:0045211 postsynaptic membrane; IEA:UniProtKB-SubCell. # GO_component GO:1902710 GABA receptor complex; ISS:BHF-UCL. # GO_component GO:1902711 GABA-A receptor complex; IDA:GO_Central. # GO_function GO:0004890 GABA-A receptor activity; TAS:ProtInc. # GO_function GO:0008144 drug binding; ISS:BHF-UCL. # GO_function GO:0022851 GABA-gated chloride ion channel activity; IDA:GO_Central. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0007214 gamma-aminobutyric acid signaling pathway; TAS:ProtInc. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0051932 synaptic transmission, GABAergic; ISS:BHF-UCL. # GO_process GO:0071420 cellular response to histamine; IEA:Ensembl. # GO_process GO:1902476 chloride transmembrane transport; IDA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # GOslim_process GO:0055085 transmembrane transport # Gene3D 2.70.170.10 -; 1. # Genevisible P14867 HS # HGNC HGNC:4075 GABRA1 # InterPro IPR001390 GABAAa_rcpt # InterPro IPR005431 GABBAa1_rcpt # InterPro IPR006028 GABAA/Glycine_rcpt # InterPro IPR006029 Neurotrans-gated_channel_TM # InterPro IPR006201 Neur_channel # InterPro IPR006202 Neur_chan_lig-bd # InterPro IPR018000 Neurotransmitter_ion_chnl_CS # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00808 [Nervous system disease] Familial infantile myoclonic epilepsy (FIME) # KEGG_Pathway ko04080 Neuroactive ligand-receptor interaction # KEGG_Pathway ko04723 Retrograde endocannabinoid signaling # KEGG_Pathway ko04727 GABAergic synapse # KEGG_Pathway ko05032 Morphine addiction # KEGG_Pathway ko05033 Nicotine addiction # MIM 137160 gene # MIM 611136 phenotype # MIM 615744 phenotype # Organism GBRA1_HUMAN Homo sapiens (Human) # Orphanet 307 Juvenile myoclonic epilepsy # Orphanet 33069 Dravet syndrome # Orphanet 64280 Childhood absence epilepsy # PANTHER PTHR18945 PTHR18945 # PIR A31588 A31588 # PIR A60652 A60652 # PRINTS PR00252 NRIONCHANNEL # PRINTS PR00253 GABAARECEPTR # PRINTS PR01079 GABAARALPHA # PRINTS PR01614 GABAARALPHA1 # PROSITE PS00236 NEUROTR_ION_CHANNEL # Pfam PF02931 Neur_chan_LBD # Pfam PF02932 Neur_chan_memb # Proteomes UP000005640 Chromosome 5 # Reactome R-HSA-112314 Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell # Reactome R-HSA-975298 Ligand-gated ion channel transport # Reactome R-HSA-977441 GABA A receptor activation # RecName GBRA1_HUMAN Gamma-aminobutyric acid receptor subunit alpha-1 # RefSeq NP_000797 NM_000806.5 # RefSeq NP_001121115 NM_001127643.1 # RefSeq NP_001121116 NM_001127644.1 # RefSeq NP_001121117 NM_001127645.1 # RefSeq NP_001121120 NM_001127648.1 # SIMILARITY Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRA1 sub-subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION GBRA1_HUMAN Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein {ECO 0000255}. Cell membrane {ECO 0000269|PubMed 2465923}; Multi-pass membrane protein {ECO 0000255}. Cytoplasmic vesicle membrane {ECO 0000250|UniProtKB P62813}. # SUBUNIT GBRA1_HUMAN Heteropentamer, formed by a combination of alpha, beta, gamma, delta and rho chains. Interacts with UBQLN1. Interacts with TRAK1. Interacts with KIF21B. {ECO 0000250|UniProtKB P62812, ECO 0000250|UniProtKB P62813}. # SUPFAM SSF63712 SSF63712 # SUPFAM SSF90112 SSF90112 # TCDB 1.A.9.5 the neurotransmitter receptor, cys loop, ligand-gated ion channel (lic) family # TIGRFAMs TIGR00860 LIC # UCSC uc003lyx human # WEB RESOURCE GBRA1_HUMAN Name=Protein Spotlight; Note=Forbidden fruit - Issue 56 of March 2005; URL="http //web.expasy.org/spotlight/back_issues/056"; # eggNOG ENOG410XNQG LUCA # eggNOG KOG3642 Eukaryota BLAST swissprot:GBRA1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:GBRA1_HUMAN BioCyc ZFISH:ENSG00000022355-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000022355-MONOMER COXPRESdb 2554 http://coxpresdb.jp/data/gene/2554.shtml CleanEx HS_GABRA1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_GABRA1 DOI 10.1002/ana.20874 http://dx.doi.org/10.1002/ana.20874 DOI 10.1016/0014-5793(89)80563-0 http://dx.doi.org/10.1016/0014-5793(89)80563-0 DOI 10.1016/S0006-291X(88)80949-5 http://dx.doi.org/10.1016/S0006-291X(88)80949-5 DOI 10.1038/ng885 http://dx.doi.org/10.1038/ng885 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1460-9568.2011.07767.x http://dx.doi.org/10.1111/j.1460-9568.2011.07767.x DOI 10.1212/WNL.0000000000000291 http://dx.doi.org/10.1212/WNL.0000000000000291 DrugBank DB00186 http://www.drugbank.ca/drugs/DB00186 DrugBank DB00189 http://www.drugbank.ca/drugs/DB00189 DrugBank DB00228 http://www.drugbank.ca/drugs/DB00228 DrugBank DB00231 http://www.drugbank.ca/drugs/DB00231 DrugBank DB00237 http://www.drugbank.ca/drugs/DB00237 DrugBank DB00241 http://www.drugbank.ca/drugs/DB00241 DrugBank DB00273 http://www.drugbank.ca/drugs/DB00273 DrugBank DB00292 http://www.drugbank.ca/drugs/DB00292 DrugBank DB00306 http://www.drugbank.ca/drugs/DB00306 DrugBank DB00312 http://www.drugbank.ca/drugs/DB00312 DrugBank DB00334 http://www.drugbank.ca/drugs/DB00334 DrugBank DB00349 http://www.drugbank.ca/drugs/DB00349 DrugBank DB00371 http://www.drugbank.ca/drugs/DB00371 DrugBank DB00402 http://www.drugbank.ca/drugs/DB00402 DrugBank DB00404 http://www.drugbank.ca/drugs/DB00404 DrugBank DB00418 http://www.drugbank.ca/drugs/DB00418 DrugBank DB00425 http://www.drugbank.ca/drugs/DB00425 DrugBank DB00474 http://www.drugbank.ca/drugs/DB00474 DrugBank DB00475 http://www.drugbank.ca/drugs/DB00475 DrugBank DB00543 http://www.drugbank.ca/drugs/DB00543 DrugBank DB00546 http://www.drugbank.ca/drugs/DB00546 DrugBank DB00599 http://www.drugbank.ca/drugs/DB00599 DrugBank DB00628 http://www.drugbank.ca/drugs/DB00628 DrugBank DB00659 http://www.drugbank.ca/drugs/DB00659 DrugBank DB00683 http://www.drugbank.ca/drugs/DB00683 DrugBank DB00690 http://www.drugbank.ca/drugs/DB00690 DrugBank DB00753 http://www.drugbank.ca/drugs/DB00753 DrugBank DB00794 http://www.drugbank.ca/drugs/DB00794 DrugBank DB00801 http://www.drugbank.ca/drugs/DB00801 DrugBank DB00818 http://www.drugbank.ca/drugs/DB00818 DrugBank DB00829 http://www.drugbank.ca/drugs/DB00829 DrugBank DB00837 http://www.drugbank.ca/drugs/DB00837 DrugBank DB00842 http://www.drugbank.ca/drugs/DB00842 DrugBank DB00849 http://www.drugbank.ca/drugs/DB00849 DrugBank DB00897 http://www.drugbank.ca/drugs/DB00897 DrugBank DB00898 http://www.drugbank.ca/drugs/DB00898 DrugBank DB00962 http://www.drugbank.ca/drugs/DB00962 DrugBank DB01028 http://www.drugbank.ca/drugs/DB01028 DrugBank DB01049 http://www.drugbank.ca/drugs/DB01049 DrugBank DB01068 http://www.drugbank.ca/drugs/DB01068 DrugBank DB01107 http://www.drugbank.ca/drugs/DB01107 DrugBank DB01154 http://www.drugbank.ca/drugs/DB01154 DrugBank DB01159 http://www.drugbank.ca/drugs/DB01159 DrugBank DB01174 http://www.drugbank.ca/drugs/DB01174 DrugBank DB01189 http://www.drugbank.ca/drugs/DB01189 DrugBank DB01198 http://www.drugbank.ca/drugs/DB01198 DrugBank DB01205 http://www.drugbank.ca/drugs/DB01205 DrugBank DB01215 http://www.drugbank.ca/drugs/DB01215 DrugBank DB01236 http://www.drugbank.ca/drugs/DB01236 DrugBank DB01346 http://www.drugbank.ca/drugs/DB01346 DrugBank DB01351 http://www.drugbank.ca/drugs/DB01351 DrugBank DB01352 http://www.drugbank.ca/drugs/DB01352 DrugBank DB01353 http://www.drugbank.ca/drugs/DB01353 DrugBank DB01354 http://www.drugbank.ca/drugs/DB01354 DrugBank DB01355 http://www.drugbank.ca/drugs/DB01355 DrugBank DB01381 http://www.drugbank.ca/drugs/DB01381 DrugBank DB01437 http://www.drugbank.ca/drugs/DB01437 DrugBank DB01558 http://www.drugbank.ca/drugs/DB01558 DrugBank DB01559 http://www.drugbank.ca/drugs/DB01559 DrugBank DB01567 http://www.drugbank.ca/drugs/DB01567 DrugBank DB01587 http://www.drugbank.ca/drugs/DB01587 DrugBank DB01588 http://www.drugbank.ca/drugs/DB01588 DrugBank DB01589 http://www.drugbank.ca/drugs/DB01589 DrugBank DB01594 http://www.drugbank.ca/drugs/DB01594 DrugBank DB01595 http://www.drugbank.ca/drugs/DB01595 EMBL BC030696 http://www.ebi.ac.uk/ena/data/view/BC030696 EMBL CH471062 http://www.ebi.ac.uk/ena/data/view/CH471062 EMBL CH471062 http://www.ebi.ac.uk/ena/data/view/CH471062 EMBL X13584 http://www.ebi.ac.uk/ena/data/view/X13584 EMBL X14766 http://www.ebi.ac.uk/ena/data/view/X14766 Ensembl ENST00000023897 http://www.ensembl.org/id/ENST00000023897 Ensembl ENST00000393943 http://www.ensembl.org/id/ENST00000393943 Ensembl ENST00000428797 http://www.ensembl.org/id/ENST00000428797 Ensembl ENST00000437025 http://www.ensembl.org/id/ENST00000437025 Ensembl ENST00000635880 http://www.ensembl.org/id/ENST00000635880 Ensembl ENST00000636573 http://www.ensembl.org/id/ENST00000636573 Ensembl ENST00000637827 http://www.ensembl.org/id/ENST00000637827 Ensembl ENST00000638112 http://www.ensembl.org/id/ENST00000638112 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0034707 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034707 GO_component GO:0045211 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045211 GO_component GO:1902710 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902710 GO_component GO:1902711 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902711 GO_function GO:0004890 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004890 GO_function GO:0008144 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008144 GO_function GO:0022851 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022851 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0007214 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007214 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0051932 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051932 GO_process GO:0071420 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071420 GO_process GO:1902476 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902476 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 2.70.170.10 http://www.cathdb.info/version/latest/superfamily/2.70.170.10 GeneCards GABRA1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=GABRA1 GeneID 2554 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=2554 GeneTree ENSGT00760000119010 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119010 HGNC HGNC:4075 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:4075 HOGENOM HOG000231337 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231337&db=HOGENOM6 HOVERGEN HBG051707 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG051707&db=HOVERGEN HPA CAB022502 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB022502 HPA HPA055746 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA055746 InParanoid P14867 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P14867 IntAct P14867 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P14867* InterPro IPR001390 http://www.ebi.ac.uk/interpro/entry/IPR001390 InterPro IPR005431 http://www.ebi.ac.uk/interpro/entry/IPR005431 InterPro IPR006028 http://www.ebi.ac.uk/interpro/entry/IPR006028 InterPro IPR006029 http://www.ebi.ac.uk/interpro/entry/IPR006029 InterPro IPR006201 http://www.ebi.ac.uk/interpro/entry/IPR006201 InterPro IPR006202 http://www.ebi.ac.uk/interpro/entry/IPR006202 InterPro IPR018000 http://www.ebi.ac.uk/interpro/entry/IPR018000 Jabion 2554 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=2554 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00808 http://www.genome.jp/dbget-bin/www_bget?H00808 KEGG_Gene hsa:2554 http://www.genome.jp/dbget-bin/www_bget?hsa:2554 KEGG_Orthology KO:K05175 http://www.genome.jp/dbget-bin/www_bget?KO:K05175 KEGG_Pathway ko04080 http://www.genome.jp/kegg-bin/show_pathway?ko04080 KEGG_Pathway ko04723 http://www.genome.jp/kegg-bin/show_pathway?ko04723 KEGG_Pathway ko04727 http://www.genome.jp/kegg-bin/show_pathway?ko04727 KEGG_Pathway ko05032 http://www.genome.jp/kegg-bin/show_pathway?ko05032 KEGG_Pathway ko05033 http://www.genome.jp/kegg-bin/show_pathway?ko05033 MIM 137160 http://www.ncbi.nlm.nih.gov/omim/137160 MIM 611136 http://www.ncbi.nlm.nih.gov/omim/611136 MIM 615744 http://www.ncbi.nlm.nih.gov/omim/615744 OMA INTIHFL http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=INTIHFL Orphanet 307 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=307 Orphanet 33069 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=33069 Orphanet 64280 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=64280 OrthoDB EOG091G0805 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0805 PANTHER PTHR18945 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR18945 PRINTS PR00252 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00252 PRINTS PR00253 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00253 PRINTS PR01079 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01079 PRINTS PR01614 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01614 PROSITE PS00236 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00236 PSORT swissprot:GBRA1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:GBRA1_HUMAN PSORT-B swissprot:GBRA1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:GBRA1_HUMAN PSORT2 swissprot:GBRA1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:GBRA1_HUMAN Pfam PF02931 http://pfam.xfam.org/family/PF02931 Pfam PF02932 http://pfam.xfam.org/family/PF02932 PharmGKB PA28489 http://www.pharmgkb.org/do/serve?objId=PA28489&objCls=Gene Phobius swissprot:GBRA1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:GBRA1_HUMAN PhylomeDB P14867 http://phylomedb.org/?seqid=P14867 ProteinModelPortal P14867 http://www.proteinmodelportal.org/query/uniprot/P14867 PubMed 11992121 http://www.ncbi.nlm.nih.gov/pubmed/11992121 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16718694 http://www.ncbi.nlm.nih.gov/pubmed/16718694 PubMed 21714819 http://www.ncbi.nlm.nih.gov/pubmed/21714819 PubMed 24623842 http://www.ncbi.nlm.nih.gov/pubmed/24623842 PubMed 2465923 http://www.ncbi.nlm.nih.gov/pubmed/2465923 PubMed 2847710 http://www.ncbi.nlm.nih.gov/pubmed/2847710 Reactome R-HSA-112314 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-112314 Reactome R-HSA-975298 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-975298 Reactome R-HSA-977441 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-977441 RefSeq NP_000797 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000797 RefSeq NP_001121115 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001121115 RefSeq NP_001121116 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001121116 RefSeq NP_001121117 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001121117 RefSeq NP_001121120 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001121120 SMR P14867 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P14867 STRING 9606.ENSP00000023897 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000023897&targetmode=cogs SUPFAM SSF63712 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF63712 SUPFAM SSF90112 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF90112 TCDB 1.A.9.5 http://www.tcdb.org/search/result.php?tc=1.A.9.5 TIGRFAMs TIGR00860 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00860 UCSC uc003lyx http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003lyx&org=rat UniGene Hs.175934 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.175934 UniProtKB GBRA1_HUMAN http://www.uniprot.org/uniprot/GBRA1_HUMAN UniProtKB-AC P14867 http://www.uniprot.org/uniprot/P14867 charge swissprot:GBRA1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:GBRA1_HUMAN eggNOG ENOG410XNQG http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XNQG eggNOG KOG3642 http://eggnogapi.embl.de/nog_data/html/tree/KOG3642 epestfind swissprot:GBRA1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:GBRA1_HUMAN garnier swissprot:GBRA1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:GBRA1_HUMAN helixturnhelix swissprot:GBRA1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:GBRA1_HUMAN hmoment swissprot:GBRA1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:GBRA1_HUMAN iep swissprot:GBRA1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:GBRA1_HUMAN inforesidue swissprot:GBRA1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:GBRA1_HUMAN neXtProt NX_P14867 http://www.nextprot.org/db/entry/NX_P14867 octanol swissprot:GBRA1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:GBRA1_HUMAN pepcoil swissprot:GBRA1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:GBRA1_HUMAN pepdigest swissprot:GBRA1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:GBRA1_HUMAN pepinfo swissprot:GBRA1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:GBRA1_HUMAN pepnet swissprot:GBRA1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:GBRA1_HUMAN pepstats swissprot:GBRA1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:GBRA1_HUMAN pepwheel swissprot:GBRA1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:GBRA1_HUMAN pepwindow swissprot:GBRA1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:GBRA1_HUMAN sigcleave swissprot:GBRA1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:GBRA1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS KCIP2_HUMAN Event=Alternative splicing; Named isoforms=9; Name=1; Synonyms=KChIP2a, KChIP2b, KCHIP2.4, KCHIP2L; IsoId=Q9NS61-1; Sequence=Displayed; Name=2; Synonyms=3, KChIP2.1, KChIP2b; IsoId=Q9NS61-2; Sequence=VSP_015052; Name=3; Synonyms=2, KChIP2.2, KChIP2c, KCHIP2S; IsoId=Q9NS61-3; Sequence=VSP_015051; Name=4; IsoId=Q9NS61-4; Sequence=VSP_015050; Name=5; IsoId=Q9NS61-5; Sequence=VSP_015051, VSP_015056; Name=6; Synonyms=KCHIP4.2; IsoId=Q9NS61-6; Sequence=VSP_015053; Name=7; IsoId=Q9NS61-7; Sequence=VSP_015051, VSP_015055; Name=8; Synonyms=KCHIP2.6; IsoId=Q9NS61-8; Sequence=VSP_015049, VSP_015054; Name=9; Synonyms=KCHIP2.5; IsoId=Q9NS61-9; Sequence=VSP_015051, VSP_015057, VSP_015058; # AltName KCIP2_HUMAN A-type potassium channel modulatory protein 2 # AltName KCIP2_HUMAN Cardiac voltage-gated potassium channel modulatory subunit # AltName KCIP2_HUMAN Potassium channel-interacting protein 2 # BioGrid 119043 11 # CCDS CCDS41562 -. [Q9NS61-2] # CCDS CCDS7521 -. [Q9NS61-6] # CCDS CCDS7522 -. [Q9NS61-1] # CCDS CCDS7523 -. [Q9NS61-7] # CCDS CCDS7524 -. [Q9NS61-3] # CCDS CCDS7525 -. [Q9NS61-4] # CCDS CCDS7526 -. [Q9NS61-9] # CDD cd00051 EFh; 2 # ChiTaRS KCNIP2 human # Ensembl ENST00000239117 ENSP00000239117; ENSG00000120049. [Q9NS61-9] # Ensembl ENST00000343195 ENSP00000344169; ENSG00000120049. [Q9NS61-3] # Ensembl ENST00000348850 ENSP00000239118; ENSG00000120049. [Q9NS61-4] # Ensembl ENST00000353068 ENSP00000341624; ENSG00000120049. [Q9NS61-7] # Ensembl ENST00000356640 ENSP00000349055; ENSG00000120049. [Q9NS61-1] # Ensembl ENST00000358038 ENSP00000350733; ENSG00000120049. [Q9NS61-2] # Ensembl ENST00000434163 ENSP00000411679; ENSG00000120049. [Q9NS61-8] # Ensembl ENST00000461105 ENSP00000420040; ENSG00000120049. [Q9NS61-6] # ExpressionAtlas Q9NS61 baseline and differential # FUNCTION KCIP2_HUMAN Regulatory subunit of Kv4/D (Shal)-type voltage-gated rapidly inactivating A-type potassium channels. Modulates channel density, inactivation kinetics and rate of recovery from inactivation in a calcium-dependent and isoform-specific manner. In vitro, modulates KCND2/Kv4.2 and KCND3/Kv4.3 currents. Involved in KCND2 and KCND3 trafficking to the cell surface. May be required for the expression of I(To) currents in the heart (By similarity). {ECO 0000250|UniProtKB Q9JJ69, ECO 0000269|PubMed 10676964, ECO 0000269|PubMed 11287421, ECO 0000269|PubMed 11684073, ECO 0000269|PubMed 12297301, ECO 0000269|PubMed 12829703, ECO 0000269|PubMed 14623880}. # GO_component GO:0005737 cytoplasm; IDA:UniProtKB. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0008076 voltage-gated potassium channel complex; NAS:UniProtKB. # GO_function GO:0005250 A-type (transient outward) potassium channel activity; TAS:UniProtKB. # GO_function GO:0005509 calcium ion binding; TAS:UniProtKB. # GO_function GO:0015459 potassium channel regulator activity; IDA:BHF-UCL. # GO_function GO:0044325 ion channel binding; IPI:BHF-UCL. # GO_function GO:0046923 ER retention sequence binding; NAS:UniProtKB. # GO_function GO:0047485 protein N-terminus binding; IPI:UniProtKB. # GO_process GO:0005513 detection of calcium ion; TAS:ProtInc. # GO_process GO:0006813 potassium ion transport; TAS:UniProtKB. # GO_process GO:0006936 muscle contraction; NAS:UniProtKB. # GO_process GO:0007165 signal transduction; TAS:ProtInc. # GO_process GO:0007268 chemical synaptic transmission; NAS:UniProtKB. # GO_process GO:0008016 regulation of heart contraction; TAS:UniProtKB. # GO_process GO:0045163 clustering of voltage-gated potassium channels; IDA:UniProtKB. # GO_process GO:0061337 cardiac conduction; TAS:Reactome. # GO_process GO:0071435 potassium ion export; IDA:BHF-UCL. # GO_process GO:0071805 potassium ion transmembrane transport; IDA:BHF-UCL. # GO_process GO:0086009 membrane repolarization; IDA:BHF-UCL. # GO_process GO:1901379 regulation of potassium ion transmembrane transport; ISS:UniProtKB. # GO_process GO:2001257 regulation of cation channel activity; TAS:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # GOslim_process GO:0055085 transmembrane transport # GOslim_process GO:0061024 membrane organization # Gene3D 1.10.238.10 -; 1. # Genevisible Q9NS61 HS # HGNC HGNC:15522 KCNIP2 # INTERACTION KCIP2_HUMAN Q9NZV8 KCND2; NbExp=3; IntAct=EBI-1052975, EBI-1646745; Q9NZI2 KCNIP1; NbExp=4; IntAct=EBI-1053010, EBI-2120635; # IntAct Q9NS61 2 # InterPro IPR002048 EF_hand_dom # InterPro IPR011992 EF-hand-dom_pair # InterPro IPR018247 EF_Hand_1_Ca_BS # InterPro IPR028846 Recoverin # InterPro IPR029532 KCNIP2 # MIM 604661 gene # Organism KCIP2_HUMAN Homo sapiens (Human) # PANTHER PTHR23055 PTHR23055 # PANTHER PTHR23055:SF65 PTHR23055:SF65 # PROSITE PS00018 EF_HAND_1; 3 # PROSITE PS50222 EF_HAND_2; 3 # PTM KCIP2_HUMAN Palmitoylated. Palmitoylation enhances association with the plasma membrane. {ECO 0000250|UniProtKB Q9JM59}. # Pfam PF13499 EF-hand_7 # Pfam PF13833 EF-hand_8 # Proteomes UP000005640 Chromosome 10 # Reactome R-HSA-5576894 Phase 1 - inactivation of fast Na+ channels # RecName KCIP2_HUMAN Kv channel-interacting protein 2 # RefSeq NP_055406 NM_014591.4. [Q9NS61-6] # RefSeq NP_775283 NM_173191.2. [Q9NS61-1] # RefSeq NP_775284 NM_173192.2. [Q9NS61-2] # RefSeq NP_775285 NM_173193.2. [Q9NS61-7] # RefSeq NP_775286 NM_173194.2. [Q9NS61-4] # RefSeq NP_775287 NM_173195.2. [Q9NS61-3] # RefSeq NP_775289 NM_173197.2. [Q9NS61-9] # SIMILARITY Belongs to the recoverin family. {ECO 0000305}. # SIMILARITY Contains 4 EF-hand domains. {ECO:0000255|PROSITE- ProRule PRU00448}. # SMART SM00054 EFh; 3 # SUBCELLULAR LOCATION KCIP2_HUMAN Isoform 1 Cell membrane {ECO 0000250|UniProtKB Q9JM59}; Lipid-anchor {ECO 0000250|UniProtKB Q9JM59}. Note=Detected on lipid rafts (By similarity). {ECO 0000250|UniProtKB Q9JM59}. # SUBCELLULAR LOCATION KCIP2_HUMAN Isoform 2 Cell membrane {ECO 0000250|UniProtKB Q9JM59}; Lipid-anchor {ECO 0000250|UniProtKB Q9JM59}. # SUBCELLULAR LOCATION KCIP2_HUMAN Isoform 6 Cell membrane {ECO 0000250|UniProtKB Q9JM59}; Lipid-anchor {ECO 0000250|UniProtKB Q9JM59}. # SUBUNIT KCIP2_HUMAN Component of heteromultimeric potassium channels. Identified in potassium channel complexes containing KCND1, KCND2, KCND3, KCNIP1, KCNIP2, KCNIP3, KCNIP4, DPP6 and DPP10 (By similarity). The KCND2-KCNIP2 channel complex contains four KCND2 and four KCNIP2 subunits (PubMed 14623880, PubMed 14980201). Interacts with KCND2 (PubMed 10676964, PubMed 14623880, PubMed 14980201). Isoform 1 and isoform 3 interact with KCND3 isoform 1. Probably part of a complex consisting of KCNIP1, KCNIP2 isoform 3 and KCND2. At least isoform 2 and isoform 3 can self- associate to form homodimers and homotetramers. Isoform 3 interacts with KCNIP1 in a calcium-dependent manner. {ECO 0000250|UniProtKB Q9JJ69, ECO 0000269|PubMed 10676964, ECO 0000269|PubMed 11287421, ECO 0000269|PubMed 12297301, ECO 0000269|PubMed 14623880, ECO 0000269|PubMed 14980201, ECO 0000269|PubMed 15356203, ECO 0000269|PubMed 15358149}. # SUPFAM SSF47473 SSF47473 # TISSUE SPECIFICITY KCIP2_HUMAN Expressed in brain. Colocalizes with KCND2 in excitatory neurons including cortical and hippocampal CA1 pyramidal cells. Isoform 3 is expressed in heart and in umbilical vein endothelial cells. Not expressed in fetal heart. {ECO 0000269|PubMed 11263977, ECO 0000269|PubMed 11684073, ECO 0000269|PubMed 15356203}. # UCSC uc001ktz human. [Q9NS61-1] BLAST swissprot:KCIP2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCIP2_HUMAN COXPRESdb 30819 http://coxpresdb.jp/data/gene/30819.shtml DOI 10.1006/bbrc.2001.4558 http://dx.doi.org/10.1006/bbrc.2001.4558 DOI 10.1016/S0008-6363(01)00374-1 http://dx.doi.org/10.1016/S0008-6363(01)00374-1 DOI 10.1016/S0014-5793(02)03296-9 http://dx.doi.org/10.1016/S0014-5793(02)03296-9 DOI 10.1016/S0896-6273(04)00050-9 http://dx.doi.org/10.1016/S0896-6273(04)00050-9 DOI 10.1016/j.bbrc.2004.07.006 http://dx.doi.org/10.1016/j.bbrc.2004.07.006 DOI 10.1016/j.ygeno.2005.07.001 http://dx.doi.org/10.1016/j.ygeno.2005.07.001 DOI 10.1038/35000592 http://dx.doi.org/10.1038/35000592 DOI 10.1038/nature02462 http://dx.doi.org/10.1038/nature02462 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.M101320200 http://dx.doi.org/10.1074/jbc.M101320200 DOI 10.1074/jbc.M306142200 http://dx.doi.org/10.1074/jbc.M306142200 DOI 10.1074/jbc.M311332200 http://dx.doi.org/10.1074/jbc.M311332200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1101/gr.GR1547R http://dx.doi.org/10.1101/gr.GR1547R DOI 10.1523/JNEUROSCI.0776-04.2004 http://dx.doi.org/10.1523/JNEUROSCI.0776-04.2004 EMBL AB044584 http://www.ebi.ac.uk/ena/data/view/AB044584 EMBL AB044585 http://www.ebi.ac.uk/ena/data/view/AB044585 EMBL AC010789 http://www.ebi.ac.uk/ena/data/view/AC010789 EMBL AF199598 http://www.ebi.ac.uk/ena/data/view/AF199598 EMBL AF295076 http://www.ebi.ac.uk/ena/data/view/AF295076 EMBL AF295530 http://www.ebi.ac.uk/ena/data/view/AF295530 EMBL AF347114 http://www.ebi.ac.uk/ena/data/view/AF347114 EMBL AF367018 http://www.ebi.ac.uk/ena/data/view/AF367018 EMBL AF367019 http://www.ebi.ac.uk/ena/data/view/AF367019 EMBL AF367020 http://www.ebi.ac.uk/ena/data/view/AF367020 EMBL AF367021 http://www.ebi.ac.uk/ena/data/view/AF367021 EMBL AJ276317 http://www.ebi.ac.uk/ena/data/view/AJ276317 EMBL AK027347 http://www.ebi.ac.uk/ena/data/view/AK027347 EMBL AK315042 http://www.ebi.ac.uk/ena/data/view/AK315042 EMBL AL136722 http://www.ebi.ac.uk/ena/data/view/AL136722 EMBL AY026328 http://www.ebi.ac.uk/ena/data/view/AY026328 EMBL AY026329 http://www.ebi.ac.uk/ena/data/view/AY026329 EMBL AY026330 http://www.ebi.ac.uk/ena/data/view/AY026330 EMBL AY026331 http://www.ebi.ac.uk/ena/data/view/AY026331 EMBL AY302141 http://www.ebi.ac.uk/ena/data/view/AY302141 EMBL BC034685 http://www.ebi.ac.uk/ena/data/view/BC034685 EMBL CH471066 http://www.ebi.ac.uk/ena/data/view/CH471066 EMBL DQ148480 http://www.ebi.ac.uk/ena/data/view/DQ148480 EMBL DQ148481 http://www.ebi.ac.uk/ena/data/view/DQ148481 EMBL DQ148483 http://www.ebi.ac.uk/ena/data/view/DQ148483 Ensembl ENST00000239117 http://www.ensembl.org/id/ENST00000239117 Ensembl ENST00000343195 http://www.ensembl.org/id/ENST00000343195 Ensembl ENST00000348850 http://www.ensembl.org/id/ENST00000348850 Ensembl ENST00000353068 http://www.ensembl.org/id/ENST00000353068 Ensembl ENST00000356640 http://www.ensembl.org/id/ENST00000356640 Ensembl ENST00000358038 http://www.ensembl.org/id/ENST00000358038 Ensembl ENST00000434163 http://www.ensembl.org/id/ENST00000434163 Ensembl ENST00000461105 http://www.ensembl.org/id/ENST00000461105 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0008076 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008076 GO_function GO:0005250 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005250 GO_function GO:0005509 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005509 GO_function GO:0015459 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015459 GO_function GO:0044325 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044325 GO_function GO:0046923 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046923 GO_function GO:0047485 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0047485 GO_process GO:0005513 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005513 GO_process GO:0006813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006813 GO_process GO:0006936 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006936 GO_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GO_process GO:0007268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007268 GO_process GO:0008016 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008016 GO_process GO:0045163 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045163 GO_process GO:0061337 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061337 GO_process GO:0071435 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071435 GO_process GO:0071805 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071805 GO_process GO:0086009 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086009 GO_process GO:1901379 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1901379 GO_process GO:2001257 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2001257 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GOslim_process GO:0061024 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061024 Gene3D 1.10.238.10 http://www.cathdb.info/version/latest/superfamily/1.10.238.10 GeneCards KCNIP2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNIP2 GeneID 30819 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=30819 GeneTree ENSGT00760000118820 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118820 HGNC HGNC:15522 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:15522 HOVERGEN HBG108179 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG108179&db=HOVERGEN InParanoid Q9NS61 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9NS61 IntAct Q9NS61 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9NS61* InterPro IPR002048 http://www.ebi.ac.uk/interpro/entry/IPR002048 InterPro IPR011992 http://www.ebi.ac.uk/interpro/entry/IPR011992 InterPro IPR018247 http://www.ebi.ac.uk/interpro/entry/IPR018247 InterPro IPR028846 http://www.ebi.ac.uk/interpro/entry/IPR028846 InterPro IPR029532 http://www.ebi.ac.uk/interpro/entry/IPR029532 Jabion 30819 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=30819 KEGG_Gene hsa:30819 http://www.genome.jp/dbget-bin/www_bget?hsa:30819 MIM 604661 http://www.ncbi.nlm.nih.gov/omim/604661 MINT MINT-4712078 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-4712078 OMA MNRCPRR http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=MNRCPRR OrthoDB EOG091G11T4 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G11T4 PANTHER PTHR23055 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR23055 PANTHER PTHR23055:SF65 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR23055:SF65 PROSITE PS00018 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00018 PROSITE PS50222 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50222 PSORT swissprot:KCIP2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCIP2_HUMAN PSORT-B swissprot:KCIP2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCIP2_HUMAN PSORT2 swissprot:KCIP2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCIP2_HUMAN Pfam PF13499 http://pfam.xfam.org/family/PF13499 Pfam PF13833 http://pfam.xfam.org/family/PF13833 PharmGKB PA30042 http://www.pharmgkb.org/do/serve?objId=PA30042&objCls=Gene Phobius swissprot:KCIP2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCIP2_HUMAN ProteinModelPortal Q9NS61 http://www.proteinmodelportal.org/query/uniprot/Q9NS61 PubMed 10676964 http://www.ncbi.nlm.nih.gov/pubmed/10676964 PubMed 11230166 http://www.ncbi.nlm.nih.gov/pubmed/11230166 PubMed 11263977 http://www.ncbi.nlm.nih.gov/pubmed/11263977 PubMed 11287421 http://www.ncbi.nlm.nih.gov/pubmed/11287421 PubMed 11684073 http://www.ncbi.nlm.nih.gov/pubmed/11684073 PubMed 12297301 http://www.ncbi.nlm.nih.gov/pubmed/12297301 PubMed 12829703 http://www.ncbi.nlm.nih.gov/pubmed/12829703 PubMed 14623880 http://www.ncbi.nlm.nih.gov/pubmed/14623880 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 14980201 http://www.ncbi.nlm.nih.gov/pubmed/14980201 PubMed 15164054 http://www.ncbi.nlm.nih.gov/pubmed/15164054 PubMed 15356203 http://www.ncbi.nlm.nih.gov/pubmed/15356203 PubMed 15358149 http://www.ncbi.nlm.nih.gov/pubmed/15358149 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16112838 http://www.ncbi.nlm.nih.gov/pubmed/16112838 Reactome R-HSA-5576894 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576894 RefSeq NP_055406 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_055406 RefSeq NP_775283 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_775283 RefSeq NP_775284 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_775284 RefSeq NP_775285 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_775285 RefSeq NP_775286 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_775286 RefSeq NP_775287 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_775287 RefSeq NP_775289 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_775289 SMART SM00054 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00054 SMR Q9NS61 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9NS61 SUPFAM SSF47473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF47473 UCSC uc001ktz http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001ktz&org=rat UniGene Hs.97044 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.97044 UniProtKB KCIP2_HUMAN http://www.uniprot.org/uniprot/KCIP2_HUMAN UniProtKB-AC Q9NS61 http://www.uniprot.org/uniprot/Q9NS61 charge swissprot:KCIP2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCIP2_HUMAN epestfind swissprot:KCIP2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCIP2_HUMAN garnier swissprot:KCIP2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCIP2_HUMAN helixturnhelix swissprot:KCIP2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCIP2_HUMAN hmoment swissprot:KCIP2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCIP2_HUMAN iep swissprot:KCIP2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCIP2_HUMAN inforesidue swissprot:KCIP2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCIP2_HUMAN neXtProt NX_Q9NS61 http://www.nextprot.org/db/entry/NX_Q9NS61 octanol swissprot:KCIP2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCIP2_HUMAN pepcoil swissprot:KCIP2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCIP2_HUMAN pepdigest swissprot:KCIP2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCIP2_HUMAN pepinfo swissprot:KCIP2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCIP2_HUMAN pepnet swissprot:KCIP2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCIP2_HUMAN pepstats swissprot:KCIP2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCIP2_HUMAN pepwheel swissprot:KCIP2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCIP2_HUMAN pepwindow swissprot:KCIP2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCIP2_HUMAN sigcleave swissprot:KCIP2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCIP2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS ABCG1_HUMAN Event=Alternative splicing; Named isoforms=8; Comment=Additional isoforms seem to exist.; Name=1; IsoId=P45844-1; Sequence=Displayed; Name=2; Synonyms=J; IsoId=P45844-2; Sequence=VSP_000047, VSP_000051; Name=3; Synonyms=ABDE; IsoId=P45844-3; Sequence=VSP_000048, VSP_000051; Name=4; Synonyms=G; IsoId=P45844-4; Sequence=VSP_000051; Name=5; Synonyms=F; IsoId=P45844-5; Sequence=VSP_000049, VSP_000051; Name=6; Synonyms=HI; IsoId=P45844-6; Sequence=VSP_000046, VSP_000051; Name=7; Synonyms=C; IsoId=P45844-7; Sequence=VSP_000050, VSP_000051; Name=8; IsoId=P45844-8; Sequence=VSP_010718; # AltName ABCG1_HUMAN ATP-binding cassette transporter 8 # AltName ABCG1_HUMAN White protein homolog # BioGrid 114980 59 # CCDS CCDS13681 -. [P45844-5] # CCDS CCDS13682 -. [P45844-1] # CCDS CCDS13683 -. [P45844-2] # CCDS CCDS42937 -. [P45844-3] # CCDS CCDS42938 -. [P45844-4] # ChiTaRS ABCG1 human # DrugBank DB00171 Adenosine triphosphate # Ensembl ENST00000343687 ENSP00000339744; ENSG00000160179. [P45844-2] # Ensembl ENST00000347800 ENSP00000291524; ENSG00000160179. [P45844-5] # Ensembl ENST00000361802 ENSP00000354995; ENSG00000160179. [P45844-1] # Ensembl ENST00000398449 ENSP00000381467; ENSG00000160179. [P45844-4] # Ensembl ENST00000398457 ENSP00000381475; ENSG00000160179. [P45844-3] # ExpressionAtlas P45844 baseline and differential # FUNCTION ABCG1_HUMAN Transporter involved in macrophage lipid homeostasis. Is an active component of the macrophage lipid export complex. Could also be involved in intracellular lipid transport processes. The role in cellular lipid homeostasis may not be limited to macrophages. # GO_component GO:0000139 Golgi membrane; IEA:UniProtKB-SubCell. # GO_component GO:0005654 nucleoplasm; IDA:HPA. # GO_component GO:0005739 mitochondrion; IDA:UniProtKB. # GO_component GO:0005768 endosome; ISS:BHF-UCL. # GO_component GO:0005789 endoplasmic reticulum membrane; IEA:UniProtKB-SubCell. # GO_component GO:0005794 Golgi apparatus; IDA:UniProtKB. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0005887 integral component of plasma membrane; IC:UniProtKB. # GO_component GO:0009897 external side of plasma membrane; IDA:BHF-UCL. # GO_component GO:0016021 integral component of membrane; IBA:GO_Central. # GO_component GO:0043231 intracellular membrane-bounded organelle; IDA:HPA. # GO_component GO:0055037 recycling endosome; ISS:BHF-UCL. # GO_function GO:0005524 ATP binding; IDA:BHF-UCL. # GO_function GO:0005543 phospholipid binding; IC:BHF-UCL. # GO_function GO:0005548 phospholipid transporter activity; IDA:BHF-UCL. # GO_function GO:0015485 cholesterol binding; IC:BHF-UCL. # GO_function GO:0017127 cholesterol transporter activity; IDA:BHF-UCL. # GO_function GO:0019534 toxin transporter activity; IDA:BHF-UCL. # GO_function GO:0034041 sterol-transporting ATPase activity; IDA:BHF-UCL. # GO_function GO:0034437 glycoprotein transporter activity; IDA:BHF-UCL. # GO_function GO:0042803 protein homodimerization activity; IDA:BHF-UCL. # GO_function GO:0043531 ADP binding; IDA:BHF-UCL. # GO_function GO:0046982 protein heterodimerization activity; IPI:BHF-UCL. # GO_function GO:0046983 protein dimerization activity; NAS:UniProtKB. # GO_process GO:0006355 regulation of transcription, DNA-templated; ISS:BHF-UCL. # GO_process GO:0008203 cholesterol metabolic process; IDA:BHF-UCL. # GO_process GO:0009720 detection of hormone stimulus; NAS:UniProtKB. # GO_process GO:0010033 response to organic substance; IDA:UniProtKB. # GO_process GO:0010745 negative regulation of macrophage derived foam cell differentiation; TAS:BHF-UCL. # GO_process GO:0010872 regulation of cholesterol esterification; ISS:BHF-UCL. # GO_process GO:0010875 positive regulation of cholesterol efflux; IEA:Ensembl. # GO_process GO:0010887 negative regulation of cholesterol storage; TAS:BHF-UCL. # GO_process GO:0032367 intracellular cholesterol transport; IMP:BHF-UCL. # GO_process GO:0033344 cholesterol efflux; IDA:BHF-UCL. # GO_process GO:0033700 phospholipid efflux; IMP:BHF-UCL. # GO_process GO:0033993 response to lipid; IDA:BHF-UCL. # GO_process GO:0034374 low-density lipoprotein particle remodeling; ISS:BHF-UCL. # GO_process GO:0034375 high-density lipoprotein particle remodeling; ISS:BHF-UCL. # GO_process GO:0034436 glycoprotein transport; IDA:BHF-UCL. # GO_process GO:0042157 lipoprotein metabolic process; TAS:Reactome. # GO_process GO:0042632 cholesterol homeostasis; IDA:BHF-UCL. # GO_process GO:0042987 amyloid precursor protein catabolic process; IDA:BHF-UCL. # GO_process GO:0043691 reverse cholesterol transport; ISS:BHF-UCL. # GO_process GO:0045542 positive regulation of cholesterol biosynthetic process; ISS:BHF-UCL. # GO_process GO:0055085 transmembrane transport; TAS:Reactome. # GO_process GO:0055091 phospholipid homeostasis; IMP:BHF-UCL. # GO_process GO:0055099 response to high density lipoprotein particle; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005654 nucleoplasm # GOslim_component GO:0005739 mitochondrion # GOslim_component GO:0005768 endosome # GOslim_component GO:0005794 Golgi apparatus # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0008289 lipid binding # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006629 lipid metabolic process # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0044281 small molecule metabolic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 3.40.50.300 -; 1. # Genevisible P45844 HS # HGNC HGNC:73 ABCG1 # INDUCTION ABCG1_HUMAN Strongly induced in monocyte-derived macrophages during cholesterol influx. Conversely, mRNA and protein expression are suppressed by lipid efflux. Induction is mediated by the liver X receptor/retinoid X receptor (LXR/RXR) pathway. Not induced by bacterial lipopolysaccharides (LPS). Repressed by ZNF202. {ECO 0000269|PubMed 10639163, ECO 0000269|PubMed 10799558, ECO 0000269|PubMed 11279031, ECO 0000269|PubMed 12032171}. # INTERACTION ABCG1_HUMAN Q9H172 ABCG4; NbExp=2; IntAct=EBI-8584087, EBI-8584118; # IntAct P45844 5 # InterPro IPR003439 ABC_transporter-like # InterPro IPR003593 AAA+_ATPase # InterPro IPR005284 Pigment_permease # InterPro IPR013525 ABC_2_trans # InterPro IPR017871 ABC_transporter_CS # InterPro IPR020064 ABCG1 # InterPro IPR027417 P-loop_NTPase # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02000 Transporters # KEGG_Pathway ko02010 ABC transporters # MIM 603076 gene # MISCELLANEOUS A protein of the expected size has been detected by antibody binding and Western blot in at least one of the analyzed tissues or cells. {ECO:0000305|PubMed 22042635}. # Organism ABCG1_HUMAN Homo sapiens (Human) # PANTHER PTHR19241:SF177 PTHR19241:SF177 # PROSITE PS00211 ABC_TRANSPORTER_1 # PROSITE PS50893 ABC_TRANSPORTER_2 # PTM ABCG1_HUMAN Palmitoylation at Cys-315 seems important for trafficking from the endoplasmic reticulum. {ECO 0000269|PubMed 23388354}. # Pfam PF00005 ABC_tran # Pfam PF01061 ABC2_membrane # Proteomes UP000005640 Chromosome 21 # Reactome R-HSA-1369062 ABC transporters in lipid homeostasis # Reactome R-HSA-194223 HDL-mediated lipid transport # RecName ABCG1_HUMAN ATP-binding cassette sub-family G member 1 # RefSeq NP_004906 NM_004915.3. [P45844-1] # RefSeq NP_058198 NM_016818.2. [P45844-4] # RefSeq NP_997057 NM_207174.1. [P45844-2] # RefSeq NP_997510 NM_207627.1. [P45844-3] # RefSeq NP_997511 NM_207628.1. [P45844-7] # RefSeq NP_997512 NM_207629.1. [P45844-5] # SEQUENCE CAUTION ABCG1_HUMAN Sequence=AAC51098.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; Sequence=AAK28841.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; Sequence=BAA95530.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; Sequence=BAB13728.2; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; Sequence=CAA62631.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; Sequence=CAC00730.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the ABC transporter superfamily. ABCG family. Eye pigment precursor importer (TC 3.A.1.204) subfamily. {ECO 0000305}. # SIMILARITY Contains 1 ABC transmembrane type-2 domain. {ECO 0000305}. # SIMILARITY Contains 1 ABC transporter domain. {ECO:0000255|PROSITE-ProRule PRU00434}. # SMART SM00382 AAA # SUBCELLULAR LOCATION ABCG1_HUMAN Endoplasmic reticulum membrane {ECO 0000269|PubMed 22042635}; Multi-pass membrane protein {ECO 0000269|PubMed 22042635}. Golgi apparatus membrane {ECO 0000269|PubMed 22042635}; Multi-pass membrane protein {ECO 0000269|PubMed 22042635}. Note=Predominantly localized in the intracellular compartments mainly associated with the endoplasmic reticulum (ER) and Golgi membranes. # SUBUNIT ABCG1_HUMAN May form heterodimers with several heterologous partners of the ABCG subfamily. # SUPFAM SSF52540 SSF52540 # TCDB 3.A.1.204.12 the atp-binding cassette (abc) superfamily # TIGRFAMs TIGR00955 3a01204 # TISSUE SPECIFICITY Expressed in several tissues. Expressed in macrophages; expression is increased in macrophages from patients with Tangier disease. {ECO:0000269|PubMed 11350058}. # TopDownProteomics P45844-8 -. [P45844-8] # UCSC uc002zan human. [P45844-1] # WEB RESOURCE ABCG1_HUMAN Name=ABCMdb; Note=Database for mutations in ABC proteins; URL="http //abcmutations.hegelab.org/proteinDetails?uniprot_id=P45844"; # eggNOG COG1131 LUCA # eggNOG KOG0061 Eukaryota BLAST swissprot:ABCG1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ABCG1_HUMAN BioCyc ZFISH:ENSG00000160179-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000160179-MONOMER COXPRESdb 9619 http://coxpresdb.jp/data/gene/9619.shtml DOI 10.1006/bbrc.2000.4089 http://dx.doi.org/10.1006/bbrc.2000.4089 DOI 10.1006/bbrc.2001.4863 http://dx.doi.org/10.1006/bbrc.2001.4863 DOI 10.1006/geno.2000.6253 http://dx.doi.org/10.1006/geno.2000.6253 DOI 10.1016/S0378-1119(96)00633-6 http://dx.doi.org/10.1016/S0378-1119(96)00633-6 DOI 10.1016/j.bbalip.2013.01.019 http://dx.doi.org/10.1016/j.bbalip.2013.01.019 DOI 10.1038/35012518 http://dx.doi.org/10.1038/35012518 DOI 10.1073/pnas.97.2.817 http://dx.doi.org/10.1073/pnas.97.2.817 DOI 10.1074/jbc.275.19.14700 http://dx.doi.org/10.1074/jbc.275.19.14700 DOI 10.1074/jbc.M100218200 http://dx.doi.org/10.1074/jbc.M100218200 DOI 10.1074/jbc.M105863200 http://dx.doi.org/10.1074/jbc.M105863200 DOI 10.1074/mcp.M111.013458 http://dx.doi.org/10.1074/mcp.M111.013458 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DrugBank DB00171 http://www.drugbank.ca/drugs/DB00171 EMBL AB038161 http://www.ebi.ac.uk/ena/data/view/AB038161 EMBL AF323640 http://www.ebi.ac.uk/ena/data/view/AF323640 EMBL AF323642 http://www.ebi.ac.uk/ena/data/view/AF323642 EMBL AF323643 http://www.ebi.ac.uk/ena/data/view/AF323643 EMBL AF323644 http://www.ebi.ac.uk/ena/data/view/AF323644 EMBL AF323645 http://www.ebi.ac.uk/ena/data/view/AF323645 EMBL AF323645 http://www.ebi.ac.uk/ena/data/view/AF323645 EMBL AF323645 http://www.ebi.ac.uk/ena/data/view/AF323645 EMBL AF323645 http://www.ebi.ac.uk/ena/data/view/AF323645 EMBL AF323645 http://www.ebi.ac.uk/ena/data/view/AF323645 EMBL AF323646 http://www.ebi.ac.uk/ena/data/view/AF323646 EMBL AF323646 http://www.ebi.ac.uk/ena/data/view/AF323646 EMBL AF323646 http://www.ebi.ac.uk/ena/data/view/AF323646 EMBL AF323646 http://www.ebi.ac.uk/ena/data/view/AF323646 EMBL AF323646 http://www.ebi.ac.uk/ena/data/view/AF323646 EMBL AF323647 http://www.ebi.ac.uk/ena/data/view/AF323647 EMBL AF323647 http://www.ebi.ac.uk/ena/data/view/AF323647 EMBL AF323647 http://www.ebi.ac.uk/ena/data/view/AF323647 EMBL AF323647 http://www.ebi.ac.uk/ena/data/view/AF323647 EMBL AF323647 http://www.ebi.ac.uk/ena/data/view/AF323647 EMBL AF323648 http://www.ebi.ac.uk/ena/data/view/AF323648 EMBL AF323648 http://www.ebi.ac.uk/ena/data/view/AF323648 EMBL AF323648 http://www.ebi.ac.uk/ena/data/view/AF323648 EMBL AF323648 http://www.ebi.ac.uk/ena/data/view/AF323648 EMBL AF323648 http://www.ebi.ac.uk/ena/data/view/AF323648 EMBL AF323649 http://www.ebi.ac.uk/ena/data/view/AF323649 EMBL AF323649 http://www.ebi.ac.uk/ena/data/view/AF323649 EMBL AF323649 http://www.ebi.ac.uk/ena/data/view/AF323649 EMBL AF323649 http://www.ebi.ac.uk/ena/data/view/AF323649 EMBL AF323649 http://www.ebi.ac.uk/ena/data/view/AF323649 EMBL AF323650 http://www.ebi.ac.uk/ena/data/view/AF323650 EMBL AF323650 http://www.ebi.ac.uk/ena/data/view/AF323650 EMBL AF323650 http://www.ebi.ac.uk/ena/data/view/AF323650 EMBL AF323650 http://www.ebi.ac.uk/ena/data/view/AF323650 EMBL AF323650 http://www.ebi.ac.uk/ena/data/view/AF323650 EMBL AF323651 http://www.ebi.ac.uk/ena/data/view/AF323651 EMBL AF323651 http://www.ebi.ac.uk/ena/data/view/AF323651 EMBL AF323651 http://www.ebi.ac.uk/ena/data/view/AF323651 EMBL AF323651 http://www.ebi.ac.uk/ena/data/view/AF323651 EMBL AF323651 http://www.ebi.ac.uk/ena/data/view/AF323651 EMBL AF323652 http://www.ebi.ac.uk/ena/data/view/AF323652 EMBL AF323652 http://www.ebi.ac.uk/ena/data/view/AF323652 EMBL AF323652 http://www.ebi.ac.uk/ena/data/view/AF323652 EMBL AF323652 http://www.ebi.ac.uk/ena/data/view/AF323652 EMBL AF323652 http://www.ebi.ac.uk/ena/data/view/AF323652 EMBL AF323653 http://www.ebi.ac.uk/ena/data/view/AF323653 EMBL AF323653 http://www.ebi.ac.uk/ena/data/view/AF323653 EMBL AF323653 http://www.ebi.ac.uk/ena/data/view/AF323653 EMBL AF323653 http://www.ebi.ac.uk/ena/data/view/AF323653 EMBL AF323653 http://www.ebi.ac.uk/ena/data/view/AF323653 EMBL AF323654 http://www.ebi.ac.uk/ena/data/view/AF323654 EMBL AF323654 http://www.ebi.ac.uk/ena/data/view/AF323654 EMBL AF323654 http://www.ebi.ac.uk/ena/data/view/AF323654 EMBL AF323654 http://www.ebi.ac.uk/ena/data/view/AF323654 EMBL AF323654 http://www.ebi.ac.uk/ena/data/view/AF323654 EMBL AF323655 http://www.ebi.ac.uk/ena/data/view/AF323655 EMBL AF323655 http://www.ebi.ac.uk/ena/data/view/AF323655 EMBL AF323655 http://www.ebi.ac.uk/ena/data/view/AF323655 EMBL AF323655 http://www.ebi.ac.uk/ena/data/view/AF323655 EMBL AF323655 http://www.ebi.ac.uk/ena/data/view/AF323655 EMBL AF323656 http://www.ebi.ac.uk/ena/data/view/AF323656 EMBL AF323656 http://www.ebi.ac.uk/ena/data/view/AF323656 EMBL AF323656 http://www.ebi.ac.uk/ena/data/view/AF323656 EMBL AF323656 http://www.ebi.ac.uk/ena/data/view/AF323656 EMBL AF323656 http://www.ebi.ac.uk/ena/data/view/AF323656 EMBL AF323657 http://www.ebi.ac.uk/ena/data/view/AF323657 EMBL AF323657 http://www.ebi.ac.uk/ena/data/view/AF323657 EMBL AF323657 http://www.ebi.ac.uk/ena/data/view/AF323657 EMBL AF323657 http://www.ebi.ac.uk/ena/data/view/AF323657 EMBL AF323657 http://www.ebi.ac.uk/ena/data/view/AF323657 EMBL AF323658 http://www.ebi.ac.uk/ena/data/view/AF323658 EMBL AF323658 http://www.ebi.ac.uk/ena/data/view/AF323658 EMBL AF323658 http://www.ebi.ac.uk/ena/data/view/AF323658 EMBL AF323658 http://www.ebi.ac.uk/ena/data/view/AF323658 EMBL AF323658 http://www.ebi.ac.uk/ena/data/view/AF323658 EMBL AF323660 http://www.ebi.ac.uk/ena/data/view/AF323660 EMBL AF323661 http://www.ebi.ac.uk/ena/data/view/AF323661 EMBL AF323662 http://www.ebi.ac.uk/ena/data/view/AF323662 EMBL AF323663 http://www.ebi.ac.uk/ena/data/view/AF323663 EMBL AF323664 http://www.ebi.ac.uk/ena/data/view/AF323664 EMBL AJ289137 http://www.ebi.ac.uk/ena/data/view/AJ289137 EMBL AJ289138 http://www.ebi.ac.uk/ena/data/view/AJ289138 EMBL AJ289139 http://www.ebi.ac.uk/ena/data/view/AJ289139 EMBL AJ289140 http://www.ebi.ac.uk/ena/data/view/AJ289140 EMBL AJ289141 http://www.ebi.ac.uk/ena/data/view/AJ289141 EMBL AJ289142 http://www.ebi.ac.uk/ena/data/view/AJ289142 EMBL AJ289143 http://www.ebi.ac.uk/ena/data/view/AJ289143 EMBL AJ289144 http://www.ebi.ac.uk/ena/data/view/AJ289144 EMBL AJ289145 http://www.ebi.ac.uk/ena/data/view/AJ289145 EMBL AJ289146 http://www.ebi.ac.uk/ena/data/view/AJ289146 EMBL AJ289147 http://www.ebi.ac.uk/ena/data/view/AJ289147 EMBL AJ289148 http://www.ebi.ac.uk/ena/data/view/AJ289148 EMBL AJ289149 http://www.ebi.ac.uk/ena/data/view/AJ289149 EMBL AJ289150 http://www.ebi.ac.uk/ena/data/view/AJ289150 EMBL AJ289151 http://www.ebi.ac.uk/ena/data/view/AJ289151 EMBL AP001746 http://www.ebi.ac.uk/ena/data/view/AP001746 EMBL AY048757 http://www.ebi.ac.uk/ena/data/view/AY048757 EMBL BC029158 http://www.ebi.ac.uk/ena/data/view/BC029158 EMBL U34919 http://www.ebi.ac.uk/ena/data/view/U34919 EMBL X91249 http://www.ebi.ac.uk/ena/data/view/X91249 Ensembl ENST00000343687 http://www.ensembl.org/id/ENST00000343687 Ensembl ENST00000347800 http://www.ensembl.org/id/ENST00000347800 Ensembl ENST00000361802 http://www.ensembl.org/id/ENST00000361802 Ensembl ENST00000398449 http://www.ensembl.org/id/ENST00000398449 Ensembl ENST00000398457 http://www.ensembl.org/id/ENST00000398457 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000139 GO_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GO_component GO:0005789 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005789 GO_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0009897 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009897 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0043231 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043231 GO_component GO:0055037 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055037 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0005543 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005543 GO_function GO:0005548 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005548 GO_function GO:0015485 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015485 GO_function GO:0017127 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0017127 GO_function GO:0019534 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019534 GO_function GO:0034041 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034041 GO_function GO:0034437 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034437 GO_function GO:0042803 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042803 GO_function GO:0043531 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043531 GO_function GO:0046982 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046982 GO_function GO:0046983 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046983 GO_process GO:0006355 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006355 GO_process GO:0008203 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008203 GO_process GO:0009720 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009720 GO_process GO:0010033 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010033 GO_process GO:0010745 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010745 GO_process GO:0010872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010872 GO_process GO:0010875 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010875 GO_process GO:0010887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010887 GO_process GO:0032367 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032367 GO_process GO:0033344 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033344 GO_process GO:0033700 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033700 GO_process GO:0033993 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033993 GO_process GO:0034374 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034374 GO_process GO:0034375 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034375 GO_process GO:0034436 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034436 GO_process GO:0042157 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042157 GO_process GO:0042632 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042632 GO_process GO:0042987 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042987 GO_process GO:0043691 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043691 GO_process GO:0045542 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045542 GO_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GO_process GO:0055091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055091 GO_process GO:0055099 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055099 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GOslim_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0008289 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008289 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006629 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006629 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 3.40.50.300 http://www.cathdb.info/version/latest/superfamily/3.40.50.300 GeneCards ABCG1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ABCG1 GeneID 9619 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=9619 GeneTree ENSGT00740000114855 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00740000114855 HGNC HGNC:73 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:73 HOVERGEN HBG103052 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG103052&db=HOVERGEN HPA HPA031470 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA031470 HPA HPA031471 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA031471 InParanoid P45844 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P45844 IntAct P45844 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P45844* InterPro IPR003439 http://www.ebi.ac.uk/interpro/entry/IPR003439 InterPro IPR003593 http://www.ebi.ac.uk/interpro/entry/IPR003593 InterPro IPR005284 http://www.ebi.ac.uk/interpro/entry/IPR005284 InterPro IPR013525 http://www.ebi.ac.uk/interpro/entry/IPR013525 InterPro IPR017871 http://www.ebi.ac.uk/interpro/entry/IPR017871 InterPro IPR020064 http://www.ebi.ac.uk/interpro/entry/IPR020064 InterPro IPR027417 http://www.ebi.ac.uk/interpro/entry/IPR027417 Jabion 9619 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=9619 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Gene hsa:9619 http://www.genome.jp/dbget-bin/www_bget?hsa:9619 KEGG_Orthology KO:K05679 http://www.genome.jp/dbget-bin/www_bget?KO:K05679 KEGG_Pathway ko02010 http://www.genome.jp/kegg-bin/show_pathway?ko02010 MIM 603076 http://www.ncbi.nlm.nih.gov/omim/603076 OMA ASMEGCH http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=ASMEGCH PANTHER PTHR19241:SF177 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR19241:SF177 PROSITE PS00211 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00211 PROSITE PS50893 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50893 PSORT swissprot:ABCG1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ABCG1_HUMAN PSORT-B swissprot:ABCG1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ABCG1_HUMAN PSORT2 swissprot:ABCG1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ABCG1_HUMAN Pfam PF00005 http://pfam.xfam.org/family/PF00005 Pfam PF01061 http://pfam.xfam.org/family/PF01061 PharmGKB PA24408 http://www.pharmgkb.org/do/serve?objId=PA24408&objCls=Gene Phobius swissprot:ABCG1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ABCG1_HUMAN PhylomeDB P45844 http://phylomedb.org/?seqid=P45844 ProteinModelPortal P45844 http://www.proteinmodelportal.org/query/uniprot/P45844 PubMed 10639163 http://www.ncbi.nlm.nih.gov/pubmed/10639163 PubMed 10799558 http://www.ncbi.nlm.nih.gov/pubmed/10799558 PubMed 10830953 http://www.ncbi.nlm.nih.gov/pubmed/10830953 PubMed 10950923 http://www.ncbi.nlm.nih.gov/pubmed/10950923 PubMed 11162488 http://www.ncbi.nlm.nih.gov/pubmed/11162488 PubMed 11279031 http://www.ncbi.nlm.nih.gov/pubmed/11279031 PubMed 11350058 http://www.ncbi.nlm.nih.gov/pubmed/11350058 PubMed 11500512 http://www.ncbi.nlm.nih.gov/pubmed/11500512 PubMed 11590207 http://www.ncbi.nlm.nih.gov/pubmed/11590207 PubMed 12032171 http://www.ncbi.nlm.nih.gov/pubmed/12032171 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 22042635 http://www.ncbi.nlm.nih.gov/pubmed/22042635 PubMed 23388354 http://www.ncbi.nlm.nih.gov/pubmed/23388354 PubMed 8659545 http://www.ncbi.nlm.nih.gov/pubmed/8659545 PubMed 9034316 http://www.ncbi.nlm.nih.gov/pubmed/9034316 Reactome R-HSA-1369062 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1369062 Reactome R-HSA-194223 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-194223 RefSeq NP_004906 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004906 RefSeq NP_058198 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_058198 RefSeq NP_997057 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_997057 RefSeq NP_997510 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_997510 RefSeq NP_997511 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_997511 RefSeq NP_997512 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_997512 SMART SM00382 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00382 SMR P45844 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P45844 STRING 9606.ENSP00000354995 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000354995&targetmode=cogs SUPFAM SSF52540 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52540 TCDB 3.A.1.204.12 http://www.tcdb.org/search/result.php?tc=3.A.1.204.12 TIGRFAMs TIGR00955 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00955 UCSC uc002zan http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002zan&org=rat UniGene Hs.124649 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.124649 UniGene Hs.418279 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.418279 UniProtKB ABCG1_HUMAN http://www.uniprot.org/uniprot/ABCG1_HUMAN UniProtKB-AC P45844 http://www.uniprot.org/uniprot/P45844 charge swissprot:ABCG1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ABCG1_HUMAN eggNOG COG1131 http://eggnogapi.embl.de/nog_data/html/tree/COG1131 eggNOG KOG0061 http://eggnogapi.embl.de/nog_data/html/tree/KOG0061 epestfind swissprot:ABCG1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ABCG1_HUMAN garnier swissprot:ABCG1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ABCG1_HUMAN helixturnhelix swissprot:ABCG1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ABCG1_HUMAN hmoment swissprot:ABCG1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ABCG1_HUMAN iep swissprot:ABCG1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ABCG1_HUMAN inforesidue swissprot:ABCG1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ABCG1_HUMAN neXtProt NX_P45844 http://www.nextprot.org/db/entry/NX_P45844 octanol swissprot:ABCG1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ABCG1_HUMAN pepcoil swissprot:ABCG1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ABCG1_HUMAN pepdigest swissprot:ABCG1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ABCG1_HUMAN pepinfo swissprot:ABCG1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ABCG1_HUMAN pepnet swissprot:ABCG1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ABCG1_HUMAN pepstats swissprot:ABCG1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ABCG1_HUMAN pepwheel swissprot:ABCG1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ABCG1_HUMAN pepwindow swissprot:ABCG1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ABCG1_HUMAN sigcleave swissprot:ABCG1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ABCG1_HUMAN ## Database ID URL or Descriptions # AltName CCG7_HUMAN Neuronal voltage-gated calcium channel gamma-7 subunit # AltName CCG7_HUMAN Transmembrane AMPAR regulatory protein gamma-7 # Ensembl ENST00000222212 ENSP00000222212; ENSG00000105605 # Ensembl ENST00000391767 ENSP00000375647; ENSG00000105605 # ExpressionAtlas P62955 baseline and differential # FUNCTION CCG7_HUMAN Regulates the trafficking and gating properties of AMPA- selective glutamate receptors (AMPARs). Promotes their targeting to the cell membrane and synapses and modulates their gating properties by slowing their rates of activation, deactivation and desensitization and by mediating their resensitization. Displays subunit-specific AMPA receptor regulation. Shows specificity only for GRIA1 and GRIA2. Thought to stabilize the calcium channel in an inactivated (closed) state. {ECO 0000269|PubMed 21172611}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005891 voltage-gated calcium channel complex; NAS:UniProtKB. # GO_component GO:0032281 AMPA glutamate receptor complex; ISS:UniProtKB. # GO_function GO:0005245 voltage-gated calcium channel activity; NAS:UniProtKB. # GO_function GO:0016247 channel regulator activity; IBA:GO_Central. # GO_process GO:0006816 calcium ion transport; NAS:UniProtKB. # GO_process GO:0019226 transmission of nerve impulse; IBA:GO_Central. # GO_process GO:0061337 cardiac conduction; TAS:Reactome. # GO_process GO:0070588 calcium ion transmembrane transport; IBA:GO_Central. # GO_process GO:2000311 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0050877 neurological system process # GOslim_process GO:0055085 transmembrane transport # Genevisible P62955 HS # HGNC HGNC:13626 CACNG7 # InterPro IPR004031 PMP22/EMP/MP20/Claudin # InterPro IPR008368 VDCC_gsu # InterPro IPR008371 VDCC_g7su # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04010 MAPK signaling pathway # KEGG_Pathway ko04260 Cardiac muscle contraction # KEGG_Pathway ko05410 Hypertrophic cardiomyopathy (HCM) # KEGG_Pathway ko05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC) # KEGG_Pathway ko05414 Dilated cardiomyopathy # MIM 606899 gene # Organism CCG7_HUMAN Homo sapiens (Human) # PRINTS PR01792 VDCCGAMMA # PRINTS PR01795 VDCCGAMMA7 # Pfam PF13903 Claudin_2 # Proteomes UP000005640 Chromosome 19 # Reactome R-HSA-5576892 Phase 0 - rapid depolarisation # Reactome R-HSA-5576893 Phase 2 - plateau phase # Reactome R-HSA-5576894 Phase 1 - inactivation of fast Na+ channels # RecName CCG7_HUMAN Voltage-dependent calcium channel gamma-7 subunit # RefSeq NP_114102 NM_031896.4 # RefSeq XP_016882582 XM_017027093.1 # SIMILARITY Belongs to the PMP-22/EMP/MP20 family. CACNG subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION CCG7_HUMAN Membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. # SUBUNIT The L-type calcium channel is composed of five subunits alpha-1, alpha-2/delta, beta and gamma. Acts as an auxiliary subunit for AMPA-selective glutamate receptors (AMPARs). Found in a complex with GRIA1, GRIA2, GRIA3, GRIA4, CNIH2, CNIH3, CACNG2, CACNG3, CACNG4, CACNG5 and CACNG8. # TCDB 8.A.16.2 the ca(+) channel auxiliary subunit Gama1-Gama8 (ccaGama) family # TISSUE SPECIFICITY Widely expressed. {ECO:0000269|PubMed 11170751}. # UCSC uc002qcr human # eggNOG ENOG410IXFC Eukaryota # eggNOG ENOG410XUAQ LUCA BLAST swissprot:CCG7_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CCG7_HUMAN BioCyc ZFISH:ENSG00000105605-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000105605-MONOMER COXPRESdb 59284 http://coxpresdb.jp/data/gene/59284.shtml CleanEx HS_CACNG7 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CACNG7 DOI 10.1006/geno.2000.6440 http://dx.doi.org/10.1006/geno.2000.6440 DOI 10.1016/S0378-1119(01)00738-7 http://dx.doi.org/10.1016/S0378-1119(01)00738-7 DOI 10.1016/j.neuron.2010.11.026 http://dx.doi.org/10.1016/j.neuron.2010.11.026 DOI 10.1093/emboj/21.7.1514 http://dx.doi.org/10.1093/emboj/21.7.1514 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AF288387 http://www.ebi.ac.uk/ena/data/view/AF288387 EMBL AF361353 http://www.ebi.ac.uk/ena/data/view/AF361353 EMBL AF458897 http://www.ebi.ac.uk/ena/data/view/AF458897 EMBL BC069332 http://www.ebi.ac.uk/ena/data/view/BC069332 EMBL BC093869 http://www.ebi.ac.uk/ena/data/view/BC093869 EMBL BC113503 http://www.ebi.ac.uk/ena/data/view/BC113503 Ensembl ENST00000222212 http://www.ensembl.org/id/ENST00000222212 Ensembl ENST00000391767 http://www.ensembl.org/id/ENST00000391767 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005891 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005891 GO_component GO:0032281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032281 GO_function GO:0005245 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005245 GO_function GO:0016247 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016247 GO_process GO:0006816 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006816 GO_process GO:0019226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019226 GO_process GO:0061337 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061337 GO_process GO:0070588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070588 GO_process GO:2000311 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000311 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards CACNG7 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CACNG7 GeneID 59284 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=59284 GeneTree ENSGT00550000074547 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074547 HGNC HGNC:13626 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:13626 HOGENOM HOG000233439 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000233439&db=HOGENOM6 HOVERGEN HBG025923 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG025923&db=HOVERGEN HPA HPA049881 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA049881 InParanoid P62955 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P62955 InterPro IPR004031 http://www.ebi.ac.uk/interpro/entry/IPR004031 InterPro IPR008368 http://www.ebi.ac.uk/interpro/entry/IPR008368 InterPro IPR008371 http://www.ebi.ac.uk/interpro/entry/IPR008371 Jabion 59284 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=59284 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:59284 http://www.genome.jp/dbget-bin/www_bget?hsa:59284 KEGG_Orthology KO:K04872 http://www.genome.jp/dbget-bin/www_bget?KO:K04872 KEGG_Pathway ko04010 http://www.genome.jp/kegg-bin/show_pathway?ko04010 KEGG_Pathway ko04260 http://www.genome.jp/kegg-bin/show_pathway?ko04260 KEGG_Pathway ko05410 http://www.genome.jp/kegg-bin/show_pathway?ko05410 KEGG_Pathway ko05412 http://www.genome.jp/kegg-bin/show_pathway?ko05412 KEGG_Pathway ko05414 http://www.genome.jp/kegg-bin/show_pathway?ko05414 MIM 606899 http://www.ncbi.nlm.nih.gov/omim/606899 OMA VHMSASP http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=VHMSASP OrthoDB EOG091G0F73 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0F73 PRINTS PR01792 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01792 PRINTS PR01795 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01795 PSORT swissprot:CCG7_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CCG7_HUMAN PSORT-B swissprot:CCG7_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CCG7_HUMAN PSORT2 swissprot:CCG7_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CCG7_HUMAN Pfam PF13903 http://pfam.xfam.org/family/PF13903 PharmGKB PA26021 http://www.pharmgkb.org/do/serve?objId=PA26021&objCls=Gene Phobius swissprot:CCG7_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CCG7_HUMAN PhylomeDB P62955 http://phylomedb.org/?seqid=P62955 ProteinModelPortal P62955 http://www.proteinmodelportal.org/query/uniprot/P62955 PubMed 11170751 http://www.ncbi.nlm.nih.gov/pubmed/11170751 PubMed 11738816 http://www.ncbi.nlm.nih.gov/pubmed/11738816 PubMed 11927536 http://www.ncbi.nlm.nih.gov/pubmed/11927536 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 21172611 http://www.ncbi.nlm.nih.gov/pubmed/21172611 Reactome R-HSA-5576892 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576892 Reactome R-HSA-5576893 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576893 Reactome R-HSA-5576894 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576894 RefSeq NP_114102 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_114102 RefSeq XP_016882582 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016882582 STRING 9606.ENSP00000222212 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000222212&targetmode=cogs TCDB 8.A.16.2 http://www.tcdb.org/search/result.php?tc=8.A.16.2 UCSC uc002qcr http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002qcr&org=rat UniGene Hs.631597 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.631597 UniProtKB CCG7_HUMAN http://www.uniprot.org/uniprot/CCG7_HUMAN UniProtKB-AC P62955 http://www.uniprot.org/uniprot/P62955 charge swissprot:CCG7_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CCG7_HUMAN eggNOG ENOG410IXFC http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IXFC eggNOG ENOG410XUAQ http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XUAQ epestfind swissprot:CCG7_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CCG7_HUMAN garnier swissprot:CCG7_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CCG7_HUMAN helixturnhelix swissprot:CCG7_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CCG7_HUMAN hmoment swissprot:CCG7_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CCG7_HUMAN iep swissprot:CCG7_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CCG7_HUMAN inforesidue swissprot:CCG7_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CCG7_HUMAN neXtProt NX_P62955 http://www.nextprot.org/db/entry/NX_P62955 octanol swissprot:CCG7_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CCG7_HUMAN pepcoil swissprot:CCG7_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CCG7_HUMAN pepdigest swissprot:CCG7_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CCG7_HUMAN pepinfo swissprot:CCG7_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CCG7_HUMAN pepnet swissprot:CCG7_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CCG7_HUMAN pepstats swissprot:CCG7_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CCG7_HUMAN pepwheel swissprot:CCG7_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CCG7_HUMAN pepwindow swissprot:CCG7_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CCG7_HUMAN sigcleave swissprot:CCG7_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CCG7_HUMAN ## Database ID URL or Descriptions # AltName KCNV2_HUMAN Voltage-gated potassium channel subunit Kv8.2 # BioGrid 127982 6 # DISEASE KCNV2_HUMAN Cone dystrophy retinal 3B (RCD3B) [MIM 610356] A rare form of cone dystrophy associated with supernormal rod responses. The disorder is characterized by reduced visual acuity, photoaversion, night blindness, and abnormal color vision. At an early age, the retina shows subtle depigmentation at the macula and, later, more obvious areas of atrophy. {ECO 0000269|PubMed 16909397}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DOMAIN KCNV2_HUMAN The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position. # Ensembl ENST00000382082 ENSP00000371514; ENSG00000168263 # FUNCTION KCNV2_HUMAN Potassium channel subunit. Modulates channel activity by shifting the threshold and the half-maximal activation to more negative values. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0008076 voltage-gated potassium channel complex; IEA:InterPro. # GO_component GO:0016021 integral component of membrane; IBA:GO_Central. # GO_function GO:0005251 delayed rectifier potassium channel activity; IBA:GO_Central. # GO_process GO:0051260 protein homooligomerization; IEA:InterPro. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006461 protein complex assembly # Gene3D 1.20.120.350 -; 1. # Genevisible Q8TDN2 HS # HGNC HGNC:19698 KCNV2 # InterPro IPR003131 T1-type_BTB # InterPro IPR003968 K_chnl_volt-dep_Kv # InterPro IPR003971 K_chnl_volt-dep_Kv9 # InterPro IPR005821 Ion_trans_dom # InterPro IPR011333 SKP1/BTB/POZ # InterPro IPR027359 Channel_four-helix_dom # InterPro IPR028325 VG_K_chnl # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00481 [Inherited metabolic disease; Nervous system disease; Eye disease] Retinal cone dystrophy (RCD) # MIM 607604 gene # MIM 610356 phenotype # Organism KCNV2_HUMAN Homo sapiens (Human) # Orphanet 209932 Cone dystrophy with supernormal rod response # PANTHER PTHR11537 PTHR11537; 2 # PRINTS PR00169 KCHANNEL # PRINTS PR01491 KVCHANNEL # PRINTS PR01494 KV9CHANNEL # Pfam PF00520 Ion_trans # Pfam PF02214 BTB_2 # Proteomes UP000005640 Chromosome 9 # Reactome R-HSA-1296072 Voltage gated Potassium channels # RecName KCNV2_HUMAN Potassium voltage-gated channel subfamily V member 2 # RefSeq NP_598004 NM_133497.3 # SIMILARITY Belongs to the potassium channel family. V (TC 1.A.1.2) subfamily. Kv8.2/KCNV2 sub-subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION KCNV2_HUMAN Cell membrane; Multi-pass membrane protein. Note=Has to be associated with KCNB1 or possibly another partner to get inserted in the plasma membrane. Remains intracellular in the absence of KCNB1. # SUBUNIT Heteromultimer with KCNB1, KCNC1 and KCNF1. Does not form homomultimers. {ECO:0000269|PubMed 12060745}. # SUPFAM SSF54695 SSF54695 # TISSUE SPECIFICITY Detected in lung, liver, kidney, pancreas, spleen, thymus, prostate, testis, ovary and colon. {ECO:0000269|PubMed 12060745}. # UCSC uc003zho human # eggNOG COG1226 LUCA # eggNOG KOG3713 Eukaryota BLAST swissprot:KCNV2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCNV2_HUMAN BioCyc ZFISH:ENSG00000168263-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000168263-MONOMER COXPRESdb 169522 http://coxpresdb.jp/data/gene/169522.shtml CleanEx HS_KCNV2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNV2 DOI 10.1038/nature02465 http://dx.doi.org/10.1038/nature02465 DOI 10.1073/pnas.122617999 http://dx.doi.org/10.1073/pnas.122617999 DOI 10.1086/507568 http://dx.doi.org/10.1086/507568 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AF348983 http://www.ebi.ac.uk/ena/data/view/AF348983 EMBL AL354723 http://www.ebi.ac.uk/ena/data/view/AL354723 EMBL BC101352 http://www.ebi.ac.uk/ena/data/view/BC101352 EMBL BC101353 http://www.ebi.ac.uk/ena/data/view/BC101353 Ensembl ENST00000382082 http://www.ensembl.org/id/ENST00000382082 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0008076 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008076 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005251 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005251 GO_process GO:0051260 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051260 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 Gene3D 1.20.120.350 http://www.cathdb.info/version/latest/superfamily/1.20.120.350 GeneCards KCNV2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNV2 GeneID 169522 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=169522 GeneTree ENSGT00760000118981 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118981 H-InvDB HIX0035118 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0035118 HGNC HGNC:19698 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:19698 HOGENOM HOG000231016 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231016&db=HOGENOM6 HOVERGEN HBG095321 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG095321&db=HOVERGEN HPA HPA031131 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA031131 InParanoid Q8TDN2 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8TDN2 IntAct Q8TDN2 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q8TDN2* InterPro IPR003131 http://www.ebi.ac.uk/interpro/entry/IPR003131 InterPro IPR003968 http://www.ebi.ac.uk/interpro/entry/IPR003968 InterPro IPR003971 http://www.ebi.ac.uk/interpro/entry/IPR003971 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR011333 http://www.ebi.ac.uk/interpro/entry/IPR011333 InterPro IPR027359 http://www.ebi.ac.uk/interpro/entry/IPR027359 InterPro IPR028325 http://www.ebi.ac.uk/interpro/entry/IPR028325 Jabion 169522 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=169522 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00481 http://www.genome.jp/dbget-bin/www_bget?H00481 KEGG_Gene hsa:169522 http://www.genome.jp/dbget-bin/www_bget?hsa:169522 KEGG_Orthology KO:K04935 http://www.genome.jp/dbget-bin/www_bget?KO:K04935 MIM 607604 http://www.ncbi.nlm.nih.gov/omim/607604 MIM 610356 http://www.ncbi.nlm.nih.gov/omim/610356 OMA FQLIYNF http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=FQLIYNF Orphanet 209932 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=209932 OrthoDB EOG091G0FP3 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0FP3 PANTHER PTHR11537 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11537 PRINTS PR00169 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00169 PRINTS PR01491 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01491 PRINTS PR01494 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01494 PSORT swissprot:KCNV2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCNV2_HUMAN PSORT-B swissprot:KCNV2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCNV2_HUMAN PSORT2 swissprot:KCNV2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCNV2_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF02214 http://pfam.xfam.org/family/PF02214 PharmGKB PA134992655 http://www.pharmgkb.org/do/serve?objId=PA134992655&objCls=Gene Phobius swissprot:KCNV2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCNV2_HUMAN PhylomeDB Q8TDN2 http://phylomedb.org/?seqid=Q8TDN2 ProteinModelPortal Q8TDN2 http://www.proteinmodelportal.org/query/uniprot/Q8TDN2 PubMed 12060745 http://www.ncbi.nlm.nih.gov/pubmed/12060745 PubMed 15164053 http://www.ncbi.nlm.nih.gov/pubmed/15164053 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16909397 http://www.ncbi.nlm.nih.gov/pubmed/16909397 Reactome R-HSA-1296072 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1296072 RefSeq NP_598004 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_598004 STRING 9606.ENSP00000371514 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000371514&targetmode=cogs SUPFAM SSF54695 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF54695 UCSC uc003zho http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003zho&org=rat UniGene Hs.622675 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.622675 UniGene Hs.624689 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.624689 UniGene Hs.740173 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.740173 UniProtKB KCNV2_HUMAN http://www.uniprot.org/uniprot/KCNV2_HUMAN UniProtKB-AC Q8TDN2 http://www.uniprot.org/uniprot/Q8TDN2 charge swissprot:KCNV2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCNV2_HUMAN eggNOG COG1226 http://eggnogapi.embl.de/nog_data/html/tree/COG1226 eggNOG KOG3713 http://eggnogapi.embl.de/nog_data/html/tree/KOG3713 epestfind swissprot:KCNV2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCNV2_HUMAN garnier swissprot:KCNV2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCNV2_HUMAN helixturnhelix swissprot:KCNV2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCNV2_HUMAN hmoment swissprot:KCNV2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCNV2_HUMAN iep swissprot:KCNV2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCNV2_HUMAN inforesidue swissprot:KCNV2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCNV2_HUMAN neXtProt NX_Q8TDN2 http://www.nextprot.org/db/entry/NX_Q8TDN2 octanol swissprot:KCNV2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCNV2_HUMAN pepcoil swissprot:KCNV2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCNV2_HUMAN pepdigest swissprot:KCNV2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCNV2_HUMAN pepinfo swissprot:KCNV2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCNV2_HUMAN pepnet swissprot:KCNV2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCNV2_HUMAN pepstats swissprot:KCNV2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCNV2_HUMAN pepwheel swissprot:KCNV2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCNV2_HUMAN pepwindow swissprot:KCNV2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCNV2_HUMAN sigcleave swissprot:KCNV2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCNV2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS BEST1_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=O76090-1; Sequence=Displayed; Name=3; IsoId=O76090-3; Sequence=VSP_008973, VSP_008974; Name=4; IsoId=O76090-4; Sequence=VSP_008973, VSP_008975; # AltName BEST1_HUMAN TU15B # AltName BEST1_HUMAN Vitelliform macular dystrophy protein 2 # CCDS CCDS31580 -. [O76090-1] # CCDS CCDS44623 -. [O76090-3] # ChiTaRS BEST1 human # DISEASE BEST1_HUMAN Bestrophinopathy, autosomal recessive (ARB) [MIM 611809] A retinopathy characterized by loss of central vision, an absent electro-oculogram light rise, and electroretinogram anomalies. {ECO 0000269|PubMed 18179881, ECO 0000269|PubMed 21330666, ECO 0000269|PubMed 26200502, ECO 0000269|PubMed 26720466}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE BEST1_HUMAN Macular dystrophy, vitelliform, 2 (VMD2) [MIM 153700] An autosomal dominant form of macular degeneration that usually begins in childhood or adolescence. VMD2 is characterized by typical 'egg-yolk' macular lesions due to abnormal accumulation of lipofuscin within and beneath the retinal pigment epithelium cells. Progression of the disease leads to destruction of the retinal pigment epithelium and vision loss. {ECO 0000269|PubMed 10331951, ECO 0000269|PubMed 10394929, ECO 0000269|PubMed 10453731, ECO 0000269|PubMed 10682987, ECO 0000269|PubMed 10798642, ECO 0000269|PubMed 11241846, ECO 0000269|PubMed 11449320, ECO 0000269|PubMed 12187431, ECO 0000269|PubMed 12324875, ECO 0000269|PubMed 13129869, ECO 0000269|PubMed 14517959, ECO 0000269|PubMed 15176385, ECO 0000269|PubMed 18766995, ECO 0000269|PubMed 19357557, ECO 0000269|PubMed 21330666, ECO 0000269|PubMed 9662395, ECO 0000269|PubMed 9700209}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE BEST1_HUMAN Retinitis pigmentosa 50 (RP50) [MIM 613194] A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO 0000269|PubMed 19853238}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE BEST1_HUMAN Vitreoretinochoroidopathy, autosomal dominant (ADVIRC) [MIM 193220] A disorder characterized by vitreoretinochoroidal dystrophy. The clinical presentation is variable. VRCP may be associated with cataract, nanophthalmos, microcornea, shallow anterior chamber, and glaucoma. {ECO 0000269|PubMed 15452077}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000378043 ENSP00000367282; ENSG00000167995. [O76090-1] # Ensembl ENST00000449131 ENSP00000399709; ENSG00000167995. [O76090-3] # ExpressionAtlas O76090 baseline and differential # FUNCTION BEST1_HUMAN Forms calcium-sensitive chloride channels. Highly permeable to bicarbonate. {ECO 0000269|PubMed 11904445, ECO 0000269|PubMed 12907679, ECO 0000269|PubMed 18400985}. # GO_component GO:0005829 cytosol; TAS:HGNC. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0016020 membrane; TAS:ProtInc. # GO_component GO:0016021 integral component of membrane; TAS:ProtInc. # GO_component GO:0016323 basolateral plasma membrane; IDA:UniProtKB. # GO_component GO:0034707 chloride channel complex; IDA:BHF-UCL. # GO_function GO:0005229 intracellular calcium activated chloride channel activity; TAS:Reactome. # GO_function GO:0005254 chloride channel activity; IDA:MGI. # GO_function GO:0015106 bicarbonate transmembrane transporter activity; TAS:Reactome. # GO_process GO:0006821 chloride transport; IDA:MGI. # GO_process GO:0007601 visual perception; TAS:ProtInc. # GO_process GO:0030321 transepithelial chloride transport; IDA:HGNC. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0050908 detection of light stimulus involved in visual perception; IEA:Ensembl. # GO_process GO:0051924 regulation of calcium ion transport; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005829 cytosol # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0050877 neurological system process # GOslim_process GO:0055085 transmembrane transport # Genevisible O76090 HS # HGNC HGNC:12703 BEST1 # INTERACTION BEST1_HUMAN Self; NbExp=2; IntAct=EBI-11693370, EBI-11693370; # InterPro IPR000615 Bestrophin # InterPro IPR021134 Bestrophin/UPF0187 # InterPro IPR033041 Best1 # KEGG_Brite ko02000 Transporters # KEGG_Disease H00527 [Inherited metabolic disease; Nervous system disease; Eye disease] Retinitis pigmentosa (RP) # KEGG_Disease H00805 [Nervous system disease; Eye disease] Autosomal dominant vitreoretinochoroidopathy (ADVIRC) # KEGG_Disease H00814 [Nervous system disease; Eye disease] Autosomal recessive bestrophinopathy (ARB) # MIM 153700 phenotype # MIM 193220 phenotype # MIM 607854 gene # MIM 611809 phenotype # MIM 613194 phenotype # Organism BEST1_HUMAN Homo sapiens (Human) # Orphanet 1243 Best vitelliform macular dystrophy # Orphanet 139455 Autosomal recessive bestrophinopathy # Orphanet 263347 MRCS syndrome # Orphanet 3086 Autosomal dominant vitreoretinochoroidopathy # Orphanet 791 Retinitis pigmentosa # Orphanet 99000 Adult-onset foveomacular vitelliform dystrophy # PANTHER PTHR10736 PTHR10736 # PANTHER PTHR10736:SF4 PTHR10736:SF4 # PTM BEST1_HUMAN Phosphorylated by PP2A. {ECO 0000250}. # Pfam PF01062 Bestrophin # Proteomes UP000005640 Chromosome 11 # Reactome R-HSA-2672351 Stimuli-sensing channels # RecName BEST1_HUMAN Bestrophin-1 # RefSeq NP_001132915 NM_001139443.1. [O76090-3] # RefSeq NP_001287715 NM_001300786.1. [O76090-4] # RefSeq NP_001287716 NM_001300787.1 # RefSeq NP_004174 NM_004183.3. [O76090-1] # RefSeq XP_005274272 XM_005274215.3 # RefSeq XP_016873718 XM_017018229.1 # SEQUENCE CAUTION Sequence=BAH12234.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAH13472.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the bestrophin family. {ECO 0000305}. # SUBCELLULAR LOCATION BEST1_HUMAN Cell membrane {ECO 0000269|PubMed 19853238, ECO 0000269|PubMed 26200502}; Multi-pass membrane protein {ECO 0000269|PubMed 19853238}. Basolateral cell membrane {ECO 0000269|PubMed 19853238, ECO 0000269|PubMed 26200502}. # SUBUNIT BEST1_HUMAN Homooligomer (tetramer or pentamer) (PubMed 26200502). May interact with PPP2CB and PPP2R1B (By similarity). {ECO 0000250, ECO 0000269|PubMed 26200502}. # TCDB 1.A.46.1 the anion channel-forming bestrophin (bestrophin) family # TISSUE SPECIFICITY BEST1_HUMAN Predominantly expressed in the basolateral membrane of the retinal pigment epithelium. # UCSC uc001nsr human. [O76090-1] # WEB RESOURCE BEST1_HUMAN Name=Mutations of the BEST1 gene; Note=Retina International's Scientific Newsletter; URL="http //www.retina-international.org/mutations-best1-gene"; # WEB RESOURCE BEST1_HUMAN Name=VMD2 mutation database; URL="http //www-huge.uni-regensburg.de/VMD2_database/index.php?select_db=VMD2"; # eggNOG ENOG410XS3J LUCA # eggNOG KOG3547 Eukaryota BLAST swissprot:BEST1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:BEST1_HUMAN BioCyc ZFISH:ENSG00000167995-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000167995-MONOMER COXPRESdb 7439 http://coxpresdb.jp/data/gene/7439.shtml CleanEx HS_BEST1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_BEST1 DOI 10.1001/archopht.118.4.538 http://dx.doi.org/10.1001/archopht.118.4.538 DOI 10.1002/humu.9 http://dx.doi.org/10.1002/humu.9 DOI 10.1002/humu.9189 http://dx.doi.org/10.1002/humu.9189 DOI 10.1006/geno.1999.5808 http://dx.doi.org/10.1006/geno.1999.5808 DOI 10.1007/s004390050972 http://dx.doi.org/10.1007/s004390050972 DOI 10.1007/s004390050986 http://dx.doi.org/10.1007/s004390050986 DOI 10.1016/S0002-9394(99)00327-X http://dx.doi.org/10.1016/S0002-9394(99)00327-X DOI 10.1016/S0161-6420(03)00575-X http://dx.doi.org/10.1016/S0161-6420(03)00575-X DOI 10.1016/j.ajhg.2007.08.004 http://dx.doi.org/10.1016/j.ajhg.2007.08.004 DOI 10.1016/j.ajhg.2009.09.015 http://dx.doi.org/10.1016/j.ajhg.2009.09.015 DOI 10.1038/915 http://dx.doi.org/10.1038/915 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.052692999 http://dx.doi.org/10.1073/pnas.052692999 DOI 10.1074/jbc.M306150200 http://dx.doi.org/10.1074/jbc.M306150200 DOI 10.1076/opge.22.2.107.2226 http://dx.doi.org/10.1076/opge.22.2.107.2226 DOI 10.1076/opge.23.2.129.2213 http://dx.doi.org/10.1076/opge.23.2.129.2213 DOI 10.1076/opge.23.3.167.7880 http://dx.doi.org/10.1076/opge.23.3.167.7880 DOI 10.1080/13816810802087394 http://dx.doi.org/10.1080/13816810802087394 DOI 10.1093/hmg/7.9.1517 http://dx.doi.org/10.1093/hmg/7.9.1517 DOI 10.1097/IAE.0b013e31819d4fda http://dx.doi.org/10.1097/IAE.0b013e31819d4fda DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1152/ajpcell.00398.2007 http://dx.doi.org/10.1152/ajpcell.00398.2007 DOI 10.1167/iovs.04-0550 http://dx.doi.org/10.1167/iovs.04-0550 DOI 10.1167/iovs.10-6707 http://dx.doi.org/10.1167/iovs.10-6707 DOI 10.1167/iovs.15-16910 http://dx.doi.org/10.1167/iovs.15-16910 DOI 10.1167/iovs.15-18168 http://dx.doi.org/10.1167/iovs.15-18168 EMBL AF057169 http://www.ebi.ac.uk/ena/data/view/AF057169 EMBL AF057170 http://www.ebi.ac.uk/ena/data/view/AF057170 EMBL AF073491 http://www.ebi.ac.uk/ena/data/view/AF073491 EMBL AF073492 http://www.ebi.ac.uk/ena/data/view/AF073492 EMBL AF073493 http://www.ebi.ac.uk/ena/data/view/AF073493 EMBL AF073494 http://www.ebi.ac.uk/ena/data/view/AF073494 EMBL AF073495 http://www.ebi.ac.uk/ena/data/view/AF073495 EMBL AF073496 http://www.ebi.ac.uk/ena/data/view/AF073496 EMBL AF073497 http://www.ebi.ac.uk/ena/data/view/AF073497 EMBL AF073498 http://www.ebi.ac.uk/ena/data/view/AF073498 EMBL AF073499 http://www.ebi.ac.uk/ena/data/view/AF073499 EMBL AF073500 http://www.ebi.ac.uk/ena/data/view/AF073500 EMBL AF073501 http://www.ebi.ac.uk/ena/data/view/AF073501 EMBL AK289681 http://www.ebi.ac.uk/ena/data/view/AK289681 EMBL AK295998 http://www.ebi.ac.uk/ena/data/view/AK295998 EMBL AK301392 http://www.ebi.ac.uk/ena/data/view/AK301392 EMBL AY515704 http://www.ebi.ac.uk/ena/data/view/AY515704 EMBL BC015220 http://www.ebi.ac.uk/ena/data/view/BC015220 EMBL BC041664 http://www.ebi.ac.uk/ena/data/view/BC041664 EMBL CH471076 http://www.ebi.ac.uk/ena/data/view/CH471076 EMBL CH471076 http://www.ebi.ac.uk/ena/data/view/CH471076 Ensembl ENST00000378043 http://www.ensembl.org/id/ENST00000378043 Ensembl ENST00000449131 http://www.ensembl.org/id/ENST00000449131 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0016323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016323 GO_component GO:0034707 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034707 GO_function GO:0005229 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005229 GO_function GO:0005254 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005254 GO_function GO:0015106 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015106 GO_process GO:0006821 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006821 GO_process GO:0007601 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007601 GO_process GO:0030321 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030321 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0050908 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050908 GO_process GO:0051924 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051924 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards BEST1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=BEST1 GeneID 7439 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=7439 GeneTree ENSGT00390000002997 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000002997 H-InvDB HIX0036211 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0036211 HGNC HGNC:12703 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:12703 HOVERGEN HBG044928 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG044928&db=HOVERGEN InParanoid O76090 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O76090 InterPro IPR000615 http://www.ebi.ac.uk/interpro/entry/IPR000615 InterPro IPR021134 http://www.ebi.ac.uk/interpro/entry/IPR021134 InterPro IPR033041 http://www.ebi.ac.uk/interpro/entry/IPR033041 Jabion 7439 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=7439 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Disease H00527 http://www.genome.jp/dbget-bin/www_bget?H00527 KEGG_Disease H00805 http://www.genome.jp/dbget-bin/www_bget?H00805 KEGG_Disease H00814 http://www.genome.jp/dbget-bin/www_bget?H00814 KEGG_Gene hsa:7439 http://www.genome.jp/dbget-bin/www_bget?hsa:7439 KEGG_Orthology KO:K13878 http://www.genome.jp/dbget-bin/www_bget?KO:K13878 MIM 153700 http://www.ncbi.nlm.nih.gov/omim/153700 MIM 193220 http://www.ncbi.nlm.nih.gov/omim/193220 MIM 607854 http://www.ncbi.nlm.nih.gov/omim/607854 MIM 611809 http://www.ncbi.nlm.nih.gov/omim/611809 MIM 613194 http://www.ncbi.nlm.nih.gov/omim/613194 MINT MINT-239943 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-239943 OMA FPSRRQG http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=FPSRRQG Orphanet 1243 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1243 Orphanet 139455 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=139455 Orphanet 263347 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=263347 Orphanet 3086 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=3086 Orphanet 791 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=791 Orphanet 99000 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=99000 OrthoDB EOG091G06XO http://cegg.unige.ch/orthodb/results?searchtext=EOG091G06XO PANTHER PTHR10736 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10736 PANTHER PTHR10736:SF4 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10736:SF4 PSORT swissprot:BEST1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:BEST1_HUMAN PSORT-B swissprot:BEST1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:BEST1_HUMAN PSORT2 swissprot:BEST1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:BEST1_HUMAN Pfam PF01062 http://pfam.xfam.org/family/PF01062 PharmGKB PA162377454 http://www.pharmgkb.org/do/serve?objId=PA162377454&objCls=Gene Phobius swissprot:BEST1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:BEST1_HUMAN PhylomeDB O76090 http://phylomedb.org/?seqid=O76090 ProteinModelPortal O76090 http://www.proteinmodelportal.org/query/uniprot/O76090 PubMed 10331951 http://www.ncbi.nlm.nih.gov/pubmed/10331951 PubMed 10394929 http://www.ncbi.nlm.nih.gov/pubmed/10394929 PubMed 10453731 http://www.ncbi.nlm.nih.gov/pubmed/10453731 PubMed 10682987 http://www.ncbi.nlm.nih.gov/pubmed/10682987 PubMed 10766140 http://www.ncbi.nlm.nih.gov/pubmed/10766140 PubMed 10798642 http://www.ncbi.nlm.nih.gov/pubmed/10798642 PubMed 11241846 http://www.ncbi.nlm.nih.gov/pubmed/11241846 PubMed 11449320 http://www.ncbi.nlm.nih.gov/pubmed/11449320 PubMed 11904445 http://www.ncbi.nlm.nih.gov/pubmed/11904445 PubMed 12187431 http://www.ncbi.nlm.nih.gov/pubmed/12187431 PubMed 12324875 http://www.ncbi.nlm.nih.gov/pubmed/12324875 PubMed 12907679 http://www.ncbi.nlm.nih.gov/pubmed/12907679 PubMed 13129869 http://www.ncbi.nlm.nih.gov/pubmed/13129869 PubMed 14517959 http://www.ncbi.nlm.nih.gov/pubmed/14517959 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15176385 http://www.ncbi.nlm.nih.gov/pubmed/15176385 PubMed 15452077 http://www.ncbi.nlm.nih.gov/pubmed/15452077 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 18179881 http://www.ncbi.nlm.nih.gov/pubmed/18179881 PubMed 18400985 http://www.ncbi.nlm.nih.gov/pubmed/18400985 PubMed 18766995 http://www.ncbi.nlm.nih.gov/pubmed/18766995 PubMed 19357557 http://www.ncbi.nlm.nih.gov/pubmed/19357557 PubMed 19853238 http://www.ncbi.nlm.nih.gov/pubmed/19853238 PubMed 21330666 http://www.ncbi.nlm.nih.gov/pubmed/21330666 PubMed 26200502 http://www.ncbi.nlm.nih.gov/pubmed/26200502 PubMed 26720466 http://www.ncbi.nlm.nih.gov/pubmed/26720466 PubMed 9662395 http://www.ncbi.nlm.nih.gov/pubmed/9662395 PubMed 9700209 http://www.ncbi.nlm.nih.gov/pubmed/9700209 Reactome R-HSA-2672351 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2672351 RefSeq NP_001132915 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001132915 RefSeq NP_001287715 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001287715 RefSeq NP_001287716 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001287716 RefSeq NP_004174 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004174 RefSeq XP_005274272 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005274272 RefSeq XP_016873718 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016873718 SMR O76090 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=O76090 STRING 9606.ENSP00000399709 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000399709&targetmode=cogs TCDB 1.A.46.1 http://www.tcdb.org/search/result.php?tc=1.A.46.1 UCSC uc001nsr http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001nsr&org=rat UniGene Hs.524910 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.524910 UniGene Hs.712676 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.712676 UniProtKB BEST1_HUMAN http://www.uniprot.org/uniprot/BEST1_HUMAN UniProtKB-AC O76090 http://www.uniprot.org/uniprot/O76090 charge swissprot:BEST1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:BEST1_HUMAN eggNOG ENOG410XS3J http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XS3J eggNOG KOG3547 http://eggnogapi.embl.de/nog_data/html/tree/KOG3547 epestfind swissprot:BEST1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:BEST1_HUMAN garnier swissprot:BEST1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:BEST1_HUMAN helixturnhelix swissprot:BEST1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:BEST1_HUMAN hmoment swissprot:BEST1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:BEST1_HUMAN iep swissprot:BEST1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:BEST1_HUMAN inforesidue swissprot:BEST1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:BEST1_HUMAN neXtProt NX_O76090 http://www.nextprot.org/db/entry/NX_O76090 octanol swissprot:BEST1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:BEST1_HUMAN pepcoil swissprot:BEST1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:BEST1_HUMAN pepdigest swissprot:BEST1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:BEST1_HUMAN pepinfo swissprot:BEST1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:BEST1_HUMAN pepnet swissprot:BEST1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:BEST1_HUMAN pepstats swissprot:BEST1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:BEST1_HUMAN pepwheel swissprot:BEST1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:BEST1_HUMAN pepwindow swissprot:BEST1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:BEST1_HUMAN sigcleave swissprot:BEST1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:BEST1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S4A5_HUMAN Event=Alternative splicing; Named isoforms=8; Name=1 {ECO 0000269|PubMed 11087115}; Synonyms=NBC4a {ECO 0000269|PubMed 11087115}; IsoId=Q9BY07-1; Sequence=Displayed; Name=2 {ECO 0000269|PubMed 10978526, ECO 0000269|PubMed 11087115}; Synonyms=NBC4b {ECO 0000269|PubMed 11087115}; IsoId=Q9BY07-2; Sequence=VSP_052778; Name=3 {ECO 0000269|PubMed 11788353}; Synonyms=NBC4c {ECO 0000269|PubMed 11788353}; IsoId=Q9BY07-3; Sequence=VSP_052776; Name=4 {ECO 0000269|PubMed 12063394}; Synonyms=NBC4d {ECO 0000269|PubMed 12063394}; IsoId=Q9BY07-4; Sequence=VSP_052775; Name=5; Synonyms=isoform d variant; IsoId=Q9BY07-5; Sequence=VSP_052771, VSP_052773, VSP_052777; Note=No experimental confirmation available. Incomplete sequence. {ECO 0000305}; Name=6 {ECO 0000269|PubMed 12388414}; Synonyms=NBC4f {ECO 0000269|PubMed 12388414}; IsoId=Q9BY07-6; Sequence=VSP_052772, VSP_052774, VSP_052776, VSP_052778, VSP_052780, VSP_052781; Name=7 {ECO 0000269|PubMed 15489334}; IsoId=Q9BY07-7; Sequence=VSP_052770, VSP_052772, VSP_052776; Note=No experimental confirmation available. {ECO 0000305}; Name=8 {ECO 0000269|PubMed 12388414}; Synonyms=NBC4e {ECO 0000269|PubMed 12388414}; IsoId=Q9BY07-8; Sequence=VSP_052779; # AltName S4A5_HUMAN NBCe2 # AltName S4A5_HUMAN Solute carrier family 4 member 5 # CCDS CCDS1936 -. [Q9BY07-1] # CCDS CCDS1937 -. [Q9BY07-3] # ChiTaRS SLC4A5 human # DrugBank DB01390 Sodium bicarbonate # ENZYME REGULATION S4A5_HUMAN Activity is inhibited by 4,4'-di- isothiocyanatostilbene-2,2'-disulfonic acid (DIDS - an inhibitor of several anion channels and transporters). # Ensembl ENST00000346834 ENSP00000251768; ENSG00000188687. [Q9BY07-1] # Ensembl ENST00000358683 ENSP00000351513; ENSG00000188687. [Q9BY07-7] # Ensembl ENST00000377632 ENSP00000366859; ENSG00000188687. [Q9BY07-4] # Ensembl ENST00000377634 ENSP00000366861; ENSG00000188687. [Q9BY07-1] # Ensembl ENST00000394019 ENSP00000377587; ENSG00000188687. [Q9BY07-3] # Ensembl ENST00000423644 ENSP00000395804; ENSG00000188687. [Q9BY07-3] # ExpressionAtlas Q9BY07 baseline and differential # FUNCTION S4A5_HUMAN Mediates sodium- and bicarbonate-dependent electrogenic sodium bicarbonate cotransport, with a Na(+) HCO3(-) stoichiometry of 2 1. May have a housekeeping function in regulating the pH of tissues in which it is expressed. May play a role in mediating Na(+) HCO3(-) cotransport in hepatocytes and intrahepatic cholangiocytes. Also may be important in protecting the renal paranchyma from alterations in urine pH. {ECO 0000250|UniProtKB Q6RI88, ECO 0000269|PubMed 11788353, ECO 0000269|PubMed 11997242, ECO 0000269|PubMed 12388414}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0016021 integral component of membrane; NAS:UniProtKB. # GO_component GO:0016324 apical plasma membrane; IEA:UniProtKB-SubCell. # GO_function GO:0005452 inorganic anion exchanger activity; IEA:InterPro. # GO_function GO:0008509 anion transmembrane transporter activity; IBA:GO_Central. # GO_function S4A5_HUMAN GO 0008510 sodium bicarbonate symporter activity; NAS UniProtKB. # GO_function S4A5_HUMAN GO 0015301 anion anion antiporter activity; IEA UniProtKB-KW. # GO_process GO:0003014 renal system process; IBA:GO_Central. # GO_process GO:0015701 bicarbonate transport; NAS:UniProtKB. # GO_process GO:0051453 regulation of intracellular pH; IBA:GO_Central. # GO_process GO:0098656 anion transmembrane transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 3.40.1100.10 -; 1. # Genevisible Q9BY07 HS # HGNC HGNC:18168 SLC4A5 # InterPro IPR003020 HCO3_transpt_euk # InterPro IPR003024 Na/HCO3_transpt # InterPro IPR011531 HCO3_transpt_C # InterPro IPR013769 Band3_cytoplasmic_dom # InterPro IPR016152 PTrfase/Anion_transptr # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02001 Solute carrier family # KEGG_Pathway ko04976 Bile secretion # MIM 606757 gene # Organism S4A5_HUMAN Homo sapiens (Human) # PANTHER PTHR11453 PTHR11453; 3 # PRINTS PR01231 HCO3TRNSPORT # PRINTS PR01232 NAHCO3TRSPRT # Pfam PF00955 HCO3_cotransp # Pfam PF07565 Band_3_cyto # Proteomes UP000005640 Chromosome 2 # Reactome R-HSA-425381 Bicarbonate transporters # RecName S4A5_HUMAN Electrogenic sodium bicarbonate cotransporter 4 # RefSeq NP_067019 NM_021196.3. [Q9BY07-1] # RefSeq NP_597812 NM_133478.2. [Q9BY07-3] # SEQUENCE CAUTION Sequence=AAG18492.1; Type=Frameshift; Positions=1047; Evidence={ECO:0000305}; Sequence=AAL50802.1; Type=Frameshift; Positions=760, 925, 1047; Evidence={ECO 0000305}; Sequence=EAW99691.1; Type=Frameshift; Positions=1047; Evidence={ECO:0000305}; # SIMILARITY Belongs to the anion exchanger (TC 2.A.31) family. {ECO 0000255}. # SUBCELLULAR LOCATION S4A5_HUMAN Apical cell membrane {ECO 0000269|PubMed 17715183}; Multi-pass membrane protein {ECO 0000269|PubMed 17715183}. Note=Expressed in the apical plasma membrane domain of a subset of collecting ducts in the renal medulla. {ECO 0000269|PubMed 17715183}. # SUPFAM SSF55804 SSF55804 # TCDB 2.A.31.2 the anion exchanger (ae) family # TIGRFAMs TIGR00834 ae # TISSUE SPECIFICITY S4A5_HUMAN Highest expression observed in liver, spleen and testis; moderate expression in the choroid plexus, hippocampus, cerebrum and cerebellum of brain, and in kidney cortex and kidney medulla. Also observed in heart, pancreas, muscle, lung, placenta, stomach and small intestine. Weakest expression seen in peripheral blood lymphocytes, colon, duodenum, jejunum, ileum and skeletal muscle. {ECO 0000269|PubMed 10978526, ECO 0000269|PubMed 11087115, ECO 0000269|PubMed 11788353, ECO 0000269|PubMed 17715183}. # UCSC uc002skn human. [Q9BY07-1] # eggNOG ENOG410XPHD LUCA # eggNOG KOG1172 Eukaryota BLAST swissprot:S4A5_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S4A5_HUMAN BioCyc ZFISH:G66-32365-MONOMER http://biocyc.org/getid?id=ZFISH:G66-32365-MONOMER COXPRESdb 57835 http://coxpresdb.jp/data/gene/57835.shtml CleanEx HS_SLC4A5 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC4A5 DOI 10.1016/S0167-4781(00)00149-4 http://dx.doi.org/10.1016/S0167-4781(00)00149-4 DOI 10.1080/15216540050176539 http://dx.doi.org/10.1080/15216540050176539 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1152/ajpcell.00409.2001 http://dx.doi.org/10.1152/ajpcell.00409.2001 DOI 10.1152/ajpcell.00589.2001 http://dx.doi.org/10.1152/ajpcell.00589.2001 DOI 10.1152/ajpregu.00356.2007 http://dx.doi.org/10.1152/ajpregu.00356.2007 DrugBank DB01390 http://www.drugbank.ca/drugs/DB01390 EMBL AB209752 http://www.ebi.ac.uk/ena/data/view/AB209752 EMBL AF207661 http://www.ebi.ac.uk/ena/data/view/AF207661 EMBL AF243499 http://www.ebi.ac.uk/ena/data/view/AF243499 EMBL AF293337 http://www.ebi.ac.uk/ena/data/view/AF293337 EMBL AF293338 http://www.ebi.ac.uk/ena/data/view/AF293338 EMBL AF452248 http://www.ebi.ac.uk/ena/data/view/AF452248 EMBL AF453528 http://www.ebi.ac.uk/ena/data/view/AF453528 EMBL BC109221 http://www.ebi.ac.uk/ena/data/view/BC109221 EMBL CH471053 http://www.ebi.ac.uk/ena/data/view/CH471053 EMBL CH471053 http://www.ebi.ac.uk/ena/data/view/CH471053 EMBL CH471053 http://www.ebi.ac.uk/ena/data/view/CH471053 Ensembl ENST00000346834 http://www.ensembl.org/id/ENST00000346834 Ensembl ENST00000358683 http://www.ensembl.org/id/ENST00000358683 Ensembl ENST00000377632 http://www.ensembl.org/id/ENST00000377632 Ensembl ENST00000377634 http://www.ensembl.org/id/ENST00000377634 Ensembl ENST00000394019 http://www.ensembl.org/id/ENST00000394019 Ensembl ENST00000423644 http://www.ensembl.org/id/ENST00000423644 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_function GO:0005452 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005452 GO_function GO:0008509 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008509 GO_function GO:0008510 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008510 GO_function GO:0015301 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015301 GO_process GO:0003014 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003014 GO_process GO:0015701 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015701 GO_process GO:0051453 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051453 GO_process GO:0098656 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0098656 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 3.40.1100.10 http://www.cathdb.info/version/latest/superfamily/3.40.1100.10 GeneCards SLC4A5 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC4A5 GeneID 57835 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=57835 GeneTree ENSGT00760000119021 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119021 HGNC HGNC:18168 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:18168 HOVERGEN HBG004326 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG004326&db=HOVERGEN InParanoid Q9BY07 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9BY07 IntAct Q9BY07 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9BY07* InterPro IPR003020 http://www.ebi.ac.uk/interpro/entry/IPR003020 InterPro IPR003024 http://www.ebi.ac.uk/interpro/entry/IPR003024 InterPro IPR011531 http://www.ebi.ac.uk/interpro/entry/IPR011531 InterPro IPR013769 http://www.ebi.ac.uk/interpro/entry/IPR013769 InterPro IPR016152 http://www.ebi.ac.uk/interpro/entry/IPR016152 Jabion 57835 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=57835 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:57835 http://www.genome.jp/dbget-bin/www_bget?hsa:57835 KEGG_Orthology KO:K13857 http://www.genome.jp/dbget-bin/www_bget?KO:K13857 KEGG_Pathway ko04976 http://www.genome.jp/kegg-bin/show_pathway?ko04976 MIM 606757 http://www.ncbi.nlm.nih.gov/omim/606757 MINT MINT-6489517 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-6489517 OMA ELIWTGR http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=ELIWTGR OrthoDB EOG091G01FT http://cegg.unige.ch/orthodb/results?searchtext=EOG091G01FT PANTHER PTHR11453 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11453 PRINTS PR01231 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01231 PRINTS PR01232 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01232 PSORT swissprot:S4A5_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S4A5_HUMAN PSORT-B swissprot:S4A5_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S4A5_HUMAN PSORT2 swissprot:S4A5_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S4A5_HUMAN Pfam PF00955 http://pfam.xfam.org/family/PF00955 Pfam PF07565 http://pfam.xfam.org/family/PF07565 PharmGKB PA164742397 http://www.pharmgkb.org/do/serve?objId=PA164742397&objCls=Gene Phobius swissprot:S4A5_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S4A5_HUMAN PhylomeDB Q9BY07 http://phylomedb.org/?seqid=Q9BY07 ProteinModelPortal Q9BY07 http://www.proteinmodelportal.org/query/uniprot/Q9BY07 PubMed 10978526 http://www.ncbi.nlm.nih.gov/pubmed/10978526 PubMed 11087115 http://www.ncbi.nlm.nih.gov/pubmed/11087115 PubMed 11788353 http://www.ncbi.nlm.nih.gov/pubmed/11788353 PubMed 11997242 http://www.ncbi.nlm.nih.gov/pubmed/11997242 PubMed 12063394 http://www.ncbi.nlm.nih.gov/pubmed/12063394 PubMed 12388414 http://www.ncbi.nlm.nih.gov/pubmed/12388414 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 17715183 http://www.ncbi.nlm.nih.gov/pubmed/17715183 Reactome R-HSA-425381 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-425381 RefSeq NP_067019 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_067019 RefSeq NP_597812 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_597812 STRING 9606.ENSP00000350475 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000350475&targetmode=cogs SUPFAM SSF55804 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF55804 TCDB 2.A.31.2 http://www.tcdb.org/search/result.php?tc=2.A.31.2 TIGRFAMs TIGR00834 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00834 UCSC uc002skn http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002skn&org=rat UniGene Hs.594099 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.594099 UniProtKB S4A5_HUMAN http://www.uniprot.org/uniprot/S4A5_HUMAN UniProtKB-AC Q9BY07 http://www.uniprot.org/uniprot/Q9BY07 charge swissprot:S4A5_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S4A5_HUMAN eggNOG ENOG410XPHD http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XPHD eggNOG KOG1172 http://eggnogapi.embl.de/nog_data/html/tree/KOG1172 epestfind swissprot:S4A5_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S4A5_HUMAN garnier swissprot:S4A5_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S4A5_HUMAN helixturnhelix swissprot:S4A5_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S4A5_HUMAN hmoment swissprot:S4A5_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S4A5_HUMAN iep swissprot:S4A5_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S4A5_HUMAN inforesidue swissprot:S4A5_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S4A5_HUMAN neXtProt NX_Q9BY07 http://www.nextprot.org/db/entry/NX_Q9BY07 octanol swissprot:S4A5_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S4A5_HUMAN pepcoil swissprot:S4A5_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S4A5_HUMAN pepdigest swissprot:S4A5_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S4A5_HUMAN pepinfo swissprot:S4A5_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S4A5_HUMAN pepnet swissprot:S4A5_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S4A5_HUMAN pepstats swissprot:S4A5_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S4A5_HUMAN pepwheel swissprot:S4A5_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S4A5_HUMAN pepwindow swissprot:S4A5_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S4A5_HUMAN sigcleave swissprot:S4A5_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S4A5_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS CNNM2_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9H8M5-1; Sequence=Displayed; Name=2; IsoId=Q9H8M5-2; Sequence=VSP_027080; Name=3; IsoId=Q9H8M5-3; Sequence=VSP_027077, VSP_027078; Note=No experimental confirmation available.; # AltName CNNM2_HUMAN Ancient conserved domain-containing protein 2 # AltName CNNM2_HUMAN Cyclin-M2 # BioGrid 120162 5 # CCDS CCDS44474 -. [Q9H8M5-1] # CCDS CCDS44475 -. [Q9H8M5-2] # CCDS CCDS7543 -. [Q9H8M5-3] # ChiTaRS CNNM2 human # DISEASE CNNM2_HUMAN Hypomagnesemia 6 (HOMG6) [MIM 613882] A renal disease characterized by severely lowered serum magnesium levels in the absence of other electrolyte disturbances. Affected individuals show an inappropriately normal urinary magnesium excretion, demonstrating a defect in tubular reabsorption. Age of clinical onset is highly variable and some affected individuals are asymptomatic. {ECO 0000269|PubMed 21397062}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE CNNM2_HUMAN Hypomagnesemia, seizures, and mental retardation (HOMGSMR) [MIM 616418] A disease characterized by renal wasting of magnesium, low serum magnesium, seizures, and variable degrees of delayed psychomotor development. {ECO 0000269|PubMed 24699222}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000369875 ENSP00000358891; ENSG00000148842. [Q9H8M5-3] # Ensembl ENST00000369878 ENSP00000358894; ENSG00000148842. [Q9H8M5-1] # Ensembl ENST00000433628 ENSP00000392875; ENSG00000148842. [Q9H8M5-2] # FUNCTION CNNM2_HUMAN Divalent metal cation transporter. Mediates transport of divalent metal cations in an order of Mg(2+) > Co(2+) > Mn(2+) > Sr(2+) > Ba(2+) > Cu(2+) > Fe(2+) (By similarity). {ECO 0000250|UniProtKB Q3TWN3}. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0016323 basolateral plasma membrane; IMP:MGI. # GO_function GO:0005524 ATP binding; IEA:Ensembl. # GO_function GO:0015095 magnesium ion transmembrane transporter activity; IEA:Ensembl. # GO_process GO:0010960 magnesium ion homeostasis; IMP:MGI. # GO_process GO:0015693 magnesium ion transport; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0042592 homeostatic process # Gene3D 2.60.120.10 -; 2. # Genevisible Q9H8M5 HS # HGNC HGNC:103 CNNM2 # InterPro IPR000644 CBS_dom # InterPro IPR002550 DUF21 # InterPro IPR014710 RmlC-like_jellyroll # KEGG_Brite ko02000 Transporters # MIM 607803 gene # MIM 613882 phenotype # MIM 616418 phenotype # MISCELLANEOUS CNNM2_HUMAN Shares weak sequence similarity with the cyclin family, hence its name. However, it has no cyclin-like function in vivo. # Organism CNNM2_HUMAN Homo sapiens (Human) # Orphanet 34527 Familial primary hypomagnesemia with normocalciuria and normocalcemia # PDB 4IY0 X-ray; 1.90 A; A=429-584 # PDB 4IY2 X-ray; 3.60 A; A/C=430-584 # PDB 4IY4 X-ray; 2.90 A; A/C=429-584 # PDB 4IYS X-ray; 1.80 A; A=430-584 # PROSITE PS51371 CBS; 2 # Pfam PF00571 CBS # Pfam PF01595 DUF21 # Proteomes UP000005640 Chromosome 10 # RecName CNNM2_HUMAN Metal transporter CNNM2 # RefSeq NP_060119 NM_017649.4. [Q9H8M5-1] # RefSeq NP_951058 NM_199076.2. [Q9H8M5-2] # RefSeq NP_951059 NM_199077.2. [Q9H8M5-3] # SEQUENCE CAUTION CNNM2_HUMAN Sequence=AAF86374.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; Sequence=BAA90926.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; Sequence=BAB14386.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; Sequence=CAI16511.1; Type=Erroneous gene model prediction; Evidence={ECO 0000305}; Sequence=CAI16512.1; Type=Erroneous gene model prediction; Evidence={ECO 0000305}; Sequence=CAI40076.1; Type=Erroneous gene model prediction; Evidence={ECO 0000305}; Sequence=CAI40077.1; Type=Erroneous gene model prediction; Evidence={ECO 0000305}; # SIMILARITY Belongs to the ACDP family. {ECO 0000305}. # SIMILARITY Contains 1 DUF21 domain. {ECO 0000305}. # SIMILARITY Contains 2 CBS domains. {ECO:0000255|PROSITE- ProRule PRU00703}. # SUBCELLULAR LOCATION CNNM2_HUMAN Cell membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. # TISSUE SPECIFICITY Widely expressed. Expressed at higher level in brain, kidney and placenta, while it is weakly expressed in skeletal muscle. In the kidney, it is expressed in the distal convoluted tubule and the thick ascending limb of Henle loop. {ECO:0000269|PubMed 21397062}. # UCSC uc001kwl human. [Q9H8M5-1] # eggNOG COG1253 LUCA # eggNOG KOG2118 Eukaryota BLAST swissprot:CNNM2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CNNM2_HUMAN COXPRESdb 54805 http://coxpresdb.jp/data/gene/54805.shtml CleanEx HS_CNNM2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CNNM2 DOI 10.1016/S0378-1119(02)01210-6 http://dx.doi.org/10.1016/S0378-1119(02)01210-6 DOI 10.1016/j.ajhg.2011.02.005 http://dx.doi.org/10.1016/j.ajhg.2011.02.005 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature02462 http://dx.doi.org/10.1038/nature02462 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1371/journal.pgen.1004267 http://dx.doi.org/10.1371/journal.pgen.1004267 EMBL AF216962 http://www.ebi.ac.uk/ena/data/view/AF216962 EMBL AK000071 http://www.ebi.ac.uk/ena/data/view/AK000071 EMBL AK023066 http://www.ebi.ac.uk/ena/data/view/AK023066 EMBL AK023479 http://www.ebi.ac.uk/ena/data/view/AK023479 EMBL AL139817 http://www.ebi.ac.uk/ena/data/view/AL139817 EMBL AL139817 http://www.ebi.ac.uk/ena/data/view/AL139817 EMBL AL139817 http://www.ebi.ac.uk/ena/data/view/AL139817 EMBL AL139817 http://www.ebi.ac.uk/ena/data/view/AL139817 EMBL AL356608 http://www.ebi.ac.uk/ena/data/view/AL356608 EMBL AL356608 http://www.ebi.ac.uk/ena/data/view/AL356608 EMBL AL356608 http://www.ebi.ac.uk/ena/data/view/AL356608 EMBL AL356608 http://www.ebi.ac.uk/ena/data/view/AL356608 EMBL AL356608 http://www.ebi.ac.uk/ena/data/view/AL356608 EMBL BC021222 http://www.ebi.ac.uk/ena/data/view/BC021222 Ensembl ENST00000369875 http://www.ensembl.org/id/ENST00000369875 Ensembl ENST00000369878 http://www.ensembl.org/id/ENST00000369878 Ensembl ENST00000433628 http://www.ensembl.org/id/ENST00000433628 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0016323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016323 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0015095 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015095 GO_process GO:0010960 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010960 GO_process GO:0015693 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015693 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 Gene3D 2.60.120.10 http://www.cathdb.info/version/latest/superfamily/2.60.120.10 GeneCards CNNM2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CNNM2 GeneID 54805 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=54805 GeneTree ENSGT00390000002383 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000002383 H-InvDB HIX0009171 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0009171 HGNC HGNC:103 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:103 HOVERGEN HBG074775 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG074775&db=HOVERGEN HPA HPA059954 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA059954 InParanoid Q9H8M5 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9H8M5 IntAct Q9H8M5 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9H8M5* InterPro IPR000644 http://www.ebi.ac.uk/interpro/entry/IPR000644 InterPro IPR002550 http://www.ebi.ac.uk/interpro/entry/IPR002550 InterPro IPR014710 http://www.ebi.ac.uk/interpro/entry/IPR014710 Jabion 54805 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=54805 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Gene hsa:54805 http://www.genome.jp/dbget-bin/www_bget?hsa:54805 KEGG_Orthology KO:K16302 http://www.genome.jp/dbget-bin/www_bget?KO:K16302 MIM 607803 http://www.ncbi.nlm.nih.gov/omim/607803 MIM 613882 http://www.ncbi.nlm.nih.gov/omim/613882 MIM 616418 http://www.ncbi.nlm.nih.gov/omim/616418 OMA VMASRMD http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=VMASRMD Orphanet 34527 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=34527 OrthoDB EOG091G02YS http://cegg.unige.ch/orthodb/results?searchtext=EOG091G02YS PDB 4IY0 http://www.ebi.ac.uk/pdbe-srv/view/entry/4IY0 PDB 4IY2 http://www.ebi.ac.uk/pdbe-srv/view/entry/4IY2 PDB 4IY4 http://www.ebi.ac.uk/pdbe-srv/view/entry/4IY4 PDB 4IYS http://www.ebi.ac.uk/pdbe-srv/view/entry/4IYS PDBsum 4IY0 http://www.ebi.ac.uk/pdbsum/4IY0 PDBsum 4IY2 http://www.ebi.ac.uk/pdbsum/4IY2 PDBsum 4IY4 http://www.ebi.ac.uk/pdbsum/4IY4 PDBsum 4IYS http://www.ebi.ac.uk/pdbsum/4IYS PROSITE PS51371 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51371 PSORT swissprot:CNNM2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CNNM2_HUMAN PSORT-B swissprot:CNNM2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CNNM2_HUMAN PSORT2 swissprot:CNNM2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CNNM2_HUMAN Pfam PF00571 http://pfam.xfam.org/family/PF00571 Pfam PF01595 http://pfam.xfam.org/family/PF01595 PharmGKB PA26669 http://www.pharmgkb.org/do/serve?objId=PA26669&objCls=Gene Phobius swissprot:CNNM2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CNNM2_HUMAN PhylomeDB Q9H8M5 http://phylomedb.org/?seqid=Q9H8M5 ProteinModelPortal Q9H8M5 http://www.proteinmodelportal.org/query/uniprot/Q9H8M5 PubMed 12657465 http://www.ncbi.nlm.nih.gov/pubmed/12657465 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15164054 http://www.ncbi.nlm.nih.gov/pubmed/15164054 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 21397062 http://www.ncbi.nlm.nih.gov/pubmed/21397062 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 24699222 http://www.ncbi.nlm.nih.gov/pubmed/24699222 RefSeq NP_060119 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_060119 RefSeq NP_951058 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_951058 RefSeq NP_951059 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_951059 SMR Q9H8M5 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9H8M5 STRING 9606.ENSP00000358894 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000358894&targetmode=cogs UCSC uc001kwl http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001kwl&org=rat UniGene Hs.643509 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.643509 UniProtKB CNNM2_HUMAN http://www.uniprot.org/uniprot/CNNM2_HUMAN UniProtKB-AC Q9H8M5 http://www.uniprot.org/uniprot/Q9H8M5 charge swissprot:CNNM2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CNNM2_HUMAN eggNOG COG1253 http://eggnogapi.embl.de/nog_data/html/tree/COG1253 eggNOG KOG2118 http://eggnogapi.embl.de/nog_data/html/tree/KOG2118 epestfind swissprot:CNNM2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CNNM2_HUMAN garnier swissprot:CNNM2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CNNM2_HUMAN helixturnhelix swissprot:CNNM2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CNNM2_HUMAN hmoment swissprot:CNNM2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CNNM2_HUMAN iep swissprot:CNNM2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CNNM2_HUMAN inforesidue swissprot:CNNM2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CNNM2_HUMAN neXtProt NX_Q9H8M5 http://www.nextprot.org/db/entry/NX_Q9H8M5 octanol swissprot:CNNM2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CNNM2_HUMAN pepcoil swissprot:CNNM2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CNNM2_HUMAN pepdigest swissprot:CNNM2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CNNM2_HUMAN pepinfo swissprot:CNNM2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CNNM2_HUMAN pepnet swissprot:CNNM2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CNNM2_HUMAN pepstats swissprot:CNNM2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CNNM2_HUMAN pepwheel swissprot:CNNM2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CNNM2_HUMAN pepwindow swissprot:CNNM2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CNNM2_HUMAN sigcleave swissprot:CNNM2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CNNM2_HUMAN ## Database ID URL or Descriptions # AltName MOT10_HUMAN Aromatic amino acid transporter 1 # AltName MOT10_HUMAN Solute carrier family 16 member 10 # AltName MOT10_HUMAN T-type amino acid transporter 1 # BioGrid 125582 13 # CDD cd06174 MFS # DrugBank DB00117 L-Histidine # DrugBank DB00119 Pyruvic acid # DrugBank DB00120 L-Phenylalanine # DrugBank DB00123 L-Lysine # DrugBank DB00125 L-Arginine # DrugBank DB00128 L-Aspartic Acid # DrugBank DB00130 L-Glutamine # DrugBank DB00133 L-Serine # DrugBank DB00134 L-Methionine # DrugBank DB00135 L-Tyrosine # DrugBank DB00138 L-Cystine # DrugBank DB00145 Glycine # DrugBank DB00149 L-Leucine # DrugBank DB00150 L-Tryptophan # DrugBank DB00151 L-Cysteine # DrugBank DB00156 L-Threonine # DrugBank DB00160 L-Alanine # DrugBank DB00161 L-Valine # DrugBank DB00167 L-Isoleucine # DrugBank DB00172 L-Proline # DrugBank DB00174 L-Asparagine # DrugBank DB00279 Liothyronine # DrugBank DB01235 Levodopa # DrugBank DB01583 Liotrix # DrugBank DB04398 Lactic Acid # DrugBank DB06262 Droxidopa # Ensembl ENST00000368851 ENSP00000357844; ENSG00000112394 # ExpressionAtlas Q8TF71 baseline and differential # FUNCTION MOT10_HUMAN Sodium-independent transporter that mediates the uptake of aromatic acids. Can function as a net efflux pathway for aromatic amino acids in the basosolateral epithelial cells (By similarity). {ECO 0000250, ECO 0000269|PubMed 11827462}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IEA:InterPro. # GO_component GO:0016021 integral component of membrane; IBA:GO_Central. # GO_component GO:0016323 basolateral plasma membrane; TAS:HGNC. # GO_function GO:0005215 transporter activity; IBA:GO_Central. # GO_function GO:0015171 amino acid transmembrane transporter activity; TAS:Reactome. # GO_function GO:0015173 aromatic amino acid transmembrane transporter activity; IEA:InterPro. # GO_function GO:0015349 thyroid hormone transmembrane transporter activity; IEA:InterPro. # GO_process GO:0006865 amino acid transport; TAS:Reactome. # GO_process GO:0015801 aromatic amino acid transport; TAS:HGNC. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # Genevisible Q8TF71 HS # HGNC HGNC:17027 SLC16A10 # InterPro IPR011701 MFS # InterPro IPR020846 MFS_dom # InterPro IPR030762 MCT10 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02000 Transporters # KEGG_Brite ko02001 Solute carrier family # KEGG_Pathway ko04974 Protein digestion and absorption # MIM 607550 gene # Organism MOT10_HUMAN Homo sapiens (Human) # PANTHER PTHR11360:SF119 PTHR11360:SF119 # PROSITE PS50850 MFS # PTM MOT10_HUMAN Not N-glycosylated. {ECO 0000250}. # Pfam PF07690 MFS_1 # Proteomes UP000005640 Chromosome 6 # Reactome R-HSA-352230 Amino acid transport across the plasma membrane # RecName MOT10_HUMAN Monocarboxylate transporter 10 # RefSeq NP_061063 NM_018593.4 # SEQUENCE CAUTION Sequence=AAH17968.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the major facilitator superfamily. Monocarboxylate porter (TC 2.A.1.13) family. {ECO 0000305}. # SUBCELLULAR LOCATION MOT10_HUMAN Cell membrane {ECO 0000269|PubMed 11827462}; Multi-pass membrane protein {ECO 0000255}. Basolateral cell membrane {ECO 0000250}. # SUPFAM SSF103473 SSF103473 # TCDB 2.A.1.13 the major facilitator superfamily (mfs) # TISSUE SPECIFICITY Strongly expressed in kidney and skeletal muscle and at lower level in placenta and heart. {ECO:0000269|PubMed 11827462}. # UCSC uc003pus human # eggNOG COG0477 LUCA # eggNOG KOG2504 Eukaryota BLAST swissprot:MOT10_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:MOT10_HUMAN BioCyc ZFISH:ENSG00000112394-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000112394-MONOMER COXPRESdb 117247 http://coxpresdb.jp/data/gene/117247.shtml CleanEx HS_SLC16A10 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC16A10 DOI 10.1006/geno.2001.6678 http://dx.doi.org/10.1006/geno.2001.6678 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1038/nature02055 http://dx.doi.org/10.1038/nature02055 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/scisignal.2001570 http://dx.doi.org/10.1126/scisignal.2001570 DrugBank DB00117 http://www.drugbank.ca/drugs/DB00117 DrugBank DB00119 http://www.drugbank.ca/drugs/DB00119 DrugBank DB00120 http://www.drugbank.ca/drugs/DB00120 DrugBank DB00123 http://www.drugbank.ca/drugs/DB00123 DrugBank DB00125 http://www.drugbank.ca/drugs/DB00125 DrugBank DB00128 http://www.drugbank.ca/drugs/DB00128 DrugBank DB00130 http://www.drugbank.ca/drugs/DB00130 DrugBank DB00133 http://www.drugbank.ca/drugs/DB00133 DrugBank DB00134 http://www.drugbank.ca/drugs/DB00134 DrugBank DB00135 http://www.drugbank.ca/drugs/DB00135 DrugBank DB00138 http://www.drugbank.ca/drugs/DB00138 DrugBank DB00145 http://www.drugbank.ca/drugs/DB00145 DrugBank DB00149 http://www.drugbank.ca/drugs/DB00149 DrugBank DB00150 http://www.drugbank.ca/drugs/DB00150 DrugBank DB00151 http://www.drugbank.ca/drugs/DB00151 DrugBank DB00156 http://www.drugbank.ca/drugs/DB00156 DrugBank DB00160 http://www.drugbank.ca/drugs/DB00160 DrugBank DB00161 http://www.drugbank.ca/drugs/DB00161 DrugBank DB00167 http://www.drugbank.ca/drugs/DB00167 DrugBank DB00172 http://www.drugbank.ca/drugs/DB00172 DrugBank DB00174 http://www.drugbank.ca/drugs/DB00174 DrugBank DB00279 http://www.drugbank.ca/drugs/DB00279 DrugBank DB01235 http://www.drugbank.ca/drugs/DB01235 DrugBank DB01583 http://www.drugbank.ca/drugs/DB01583 DrugBank DB04398 http://www.drugbank.ca/drugs/DB04398 DrugBank DB06262 http://www.drugbank.ca/drugs/DB06262 EMBL AB057445 http://www.ebi.ac.uk/ena/data/view/AB057445 EMBL AK126183 http://www.ebi.ac.uk/ena/data/view/AK126183 EMBL AK172789 http://www.ebi.ac.uk/ena/data/view/AK172789 EMBL AL360227 http://www.ebi.ac.uk/ena/data/view/AL360227 EMBL BC017968 http://www.ebi.ac.uk/ena/data/view/BC017968 EMBL BC066985 http://www.ebi.ac.uk/ena/data/view/BC066985 EMBL CH471051 http://www.ebi.ac.uk/ena/data/view/CH471051 Ensembl ENST00000368851 http://www.ensembl.org/id/ENST00000368851 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0016323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016323 GO_function GO:0005215 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005215 GO_function GO:0015171 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015171 GO_function GO:0015173 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015173 GO_function GO:0015349 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015349 GO_process GO:0006865 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006865 GO_process GO:0015801 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015801 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GeneCards SLC16A10 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC16A10 GeneID 117247 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=117247 GeneTree ENSGT00740000115479 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00740000115479 HGNC HGNC:17027 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:17027 HOGENOM HOG000046644 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000046644&db=HOGENOM6 HOVERGEN HBG006387 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG006387&db=HOVERGEN HPA HPA016860 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA016860 InParanoid Q8TF71 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8TF71 InterPro IPR011701 http://www.ebi.ac.uk/interpro/entry/IPR011701 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 InterPro IPR030762 http://www.ebi.ac.uk/interpro/entry/IPR030762 Jabion 117247 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=117247 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:117247 http://www.genome.jp/dbget-bin/www_bget?hsa:117247 KEGG_Orthology KO:K08187 http://www.genome.jp/dbget-bin/www_bget?KO:K08187 KEGG_Pathway ko04974 http://www.genome.jp/kegg-bin/show_pathway?ko04974 MIM 607550 http://www.ncbi.nlm.nih.gov/omim/607550 OMA HLMKHVN http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=HLMKHVN OrthoDB EOG091G0449 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0449 PANTHER PTHR11360:SF119 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11360:SF119 PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PSORT swissprot:MOT10_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:MOT10_HUMAN PSORT-B swissprot:MOT10_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:MOT10_HUMAN PSORT2 swissprot:MOT10_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:MOT10_HUMAN Pfam PF07690 http://pfam.xfam.org/family/PF07690 PharmGKB PA38197 http://www.pharmgkb.org/do/serve?objId=PA38197&objCls=Gene Phobius swissprot:MOT10_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:MOT10_HUMAN PhylomeDB Q8TF71 http://phylomedb.org/?seqid=Q8TF71 ProteinModelPortal Q8TF71 http://www.proteinmodelportal.org/query/uniprot/Q8TF71 PubMed 11827462 http://www.ncbi.nlm.nih.gov/pubmed/11827462 PubMed 14574404 http://www.ncbi.nlm.nih.gov/pubmed/14574404 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 21406692 http://www.ncbi.nlm.nih.gov/pubmed/21406692 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 Reactome R-HSA-352230 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-352230 RefSeq NP_061063 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_061063 STRING 9606.ENSP00000357844 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000357844&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.1.13 http://www.tcdb.org/search/result.php?tc=2.A.1.13 UCSC uc003pus http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003pus&org=rat UniGene Hs.591327 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.591327 UniProtKB MOT10_HUMAN http://www.uniprot.org/uniprot/MOT10_HUMAN UniProtKB-AC Q8TF71 http://www.uniprot.org/uniprot/Q8TF71 charge swissprot:MOT10_HUMAN http://rest.g-language.org/emboss/charge/swissprot:MOT10_HUMAN eggNOG COG0477 http://eggnogapi.embl.de/nog_data/html/tree/COG0477 eggNOG KOG2504 http://eggnogapi.embl.de/nog_data/html/tree/KOG2504 epestfind swissprot:MOT10_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:MOT10_HUMAN garnier swissprot:MOT10_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:MOT10_HUMAN helixturnhelix swissprot:MOT10_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:MOT10_HUMAN hmoment swissprot:MOT10_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:MOT10_HUMAN iep swissprot:MOT10_HUMAN http://rest.g-language.org/emboss/iep/swissprot:MOT10_HUMAN inforesidue swissprot:MOT10_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:MOT10_HUMAN neXtProt NX_Q8TF71 http://www.nextprot.org/db/entry/NX_Q8TF71 octanol swissprot:MOT10_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:MOT10_HUMAN pepcoil swissprot:MOT10_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:MOT10_HUMAN pepdigest swissprot:MOT10_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:MOT10_HUMAN pepinfo swissprot:MOT10_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:MOT10_HUMAN pepnet swissprot:MOT10_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:MOT10_HUMAN pepstats swissprot:MOT10_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:MOT10_HUMAN pepwheel swissprot:MOT10_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:MOT10_HUMAN pepwindow swissprot:MOT10_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:MOT10_HUMAN sigcleave swissprot:MOT10_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:MOT10_HUMAN ## Database ID URL or Descriptions # AltName SL9P1_HUMAN Solute carrier family 9 subfamily B member 1 pseudogene 1 # CAUTION Could be the product of a pseudogene. {ECO 0000305}. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function SL9P1_HUMAN GO 0015299 solute proton antiporter activity; IEA InterPro. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # HGNC HGNC:37492 SLC9B1P1 # InterPro IPR006153 Cation/H_exchanger # Organism SL9P1_HUMAN Homo sapiens (Human) # Pfam PF00999 Na_H_Exchanger # Proteomes UP000005640 Unplaced # RecName SL9P1_HUMAN Putative SLC9B1-like protein SLC9B1P1 # SIMILARITY Belongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family. {ECO 0000305}. # SUBCELLULAR LOCATION SL9P1_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # eggNOG COG0025 LUCA # eggNOG KOG3826 Eukaryota BLAST swissprot:SL9P1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SL9P1_HUMAN DOI 10.1038/nature01722 http://dx.doi.org/10.1038/nature01722 EMBL AC134882 http://www.ebi.ac.uk/ena/data/view/AC134882 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0015299 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015299 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GeneCards SLC9B1P1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC9B1P1 HGNC HGNC:37492 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:37492 HOGENOM HOG000113779 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000113779&db=HOGENOM6 InParanoid A6NJY1 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=A6NJY1 InterPro IPR006153 http://www.ebi.ac.uk/interpro/entry/IPR006153 PSORT swissprot:SL9P1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SL9P1_HUMAN PSORT-B swissprot:SL9P1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SL9P1_HUMAN PSORT2 swissprot:SL9P1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SL9P1_HUMAN Pfam PF00999 http://pfam.xfam.org/family/PF00999 Phobius swissprot:SL9P1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SL9P1_HUMAN ProteinModelPortal A6NJY1 http://www.proteinmodelportal.org/query/uniprot/A6NJY1 PubMed 12815422 http://www.ncbi.nlm.nih.gov/pubmed/12815422 STRING 9606.ENSP00000331938 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000331938&targetmode=cogs UniProtKB SL9P1_HUMAN http://www.uniprot.org/uniprot/SL9P1_HUMAN UniProtKB-AC A6NJY1 http://www.uniprot.org/uniprot/A6NJY1 charge swissprot:SL9P1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SL9P1_HUMAN eggNOG COG0025 http://eggnogapi.embl.de/nog_data/html/tree/COG0025 eggNOG KOG3826 http://eggnogapi.embl.de/nog_data/html/tree/KOG3826 epestfind swissprot:SL9P1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SL9P1_HUMAN garnier swissprot:SL9P1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SL9P1_HUMAN helixturnhelix swissprot:SL9P1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SL9P1_HUMAN hmoment swissprot:SL9P1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SL9P1_HUMAN iep swissprot:SL9P1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SL9P1_HUMAN inforesidue swissprot:SL9P1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SL9P1_HUMAN neXtProt NX_A6NJY1 http://www.nextprot.org/db/entry/NX_A6NJY1 octanol swissprot:SL9P1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SL9P1_HUMAN pepcoil swissprot:SL9P1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SL9P1_HUMAN pepdigest swissprot:SL9P1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SL9P1_HUMAN pepinfo swissprot:SL9P1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SL9P1_HUMAN pepnet swissprot:SL9P1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SL9P1_HUMAN pepstats swissprot:SL9P1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SL9P1_HUMAN pepwheel swissprot:SL9P1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SL9P1_HUMAN pepwindow swissprot:SL9P1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SL9P1_HUMAN sigcleave swissprot:SL9P1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SL9P1_HUMAN ## Database ID URL or Descriptions # AltName LAT1N_HUMAN hLAT1 3-transmembrane protein MLAS # CAUTION Could be the product of a pseudogene. {ECO 0000305}. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0015171 amino acid transmembrane transporter activity; IEA:InterPro. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # HGNC HGNC:29458 SLC7A5P1 # InterPro IPR002293 AA/rel_permease1 # Organism LAT1N_HUMAN Homo sapiens (Human) # PANTHER PTHR11785 PTHR11785 # Pfam PF13520 AA_permease_2 # Proteomes UP000005640 Unplaced # RecName LAT1N_HUMAN Putative L-type amino acid transporter 1-like protein MLAS # SIMILARITY Belongs to the amino acid-polyamine-organocation (APC) superfamily. L-type amino acid transporter (LAT) (TC 2.A.3.8) family. {ECO 0000305}. # SUBCELLULAR LOCATION LAT1N_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # TISSUE SPECIFICITY Expressed in peripheral blood mononuclear cells and lymphoid and myeloid cell lines. {ECO:0000269|PubMed 12009310}. BLAST swissprot:LAT1N_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:LAT1N_HUMAN BioCyc ZFISH:G66-32114-MONOMER http://biocyc.org/getid?id=ZFISH:G66-32114-MONOMER DOI 10.1016/S1357-2725(02)00036-5 http://dx.doi.org/10.1016/S1357-2725(02)00036-5 EMBL AB055226 http://www.ebi.ac.uk/ena/data/view/AB055226 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0015171 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015171 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GeneCards SLC7A5P1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC7A5P1 HGNC HGNC:29458 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:29458 HOVERGEN HBG061804 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG061804&db=HOVERGEN HPA HPA052673 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA052673 InParanoid Q8MH63 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8MH63 InterPro IPR002293 http://www.ebi.ac.uk/interpro/entry/IPR002293 PANTHER PTHR11785 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11785 PSORT swissprot:LAT1N_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:LAT1N_HUMAN PSORT-B swissprot:LAT1N_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:LAT1N_HUMAN PSORT2 swissprot:LAT1N_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:LAT1N_HUMAN Pfam PF13520 http://pfam.xfam.org/family/PF13520 Phobius swissprot:LAT1N_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:LAT1N_HUMAN ProteinModelPortal Q8MH63 http://www.proteinmodelportal.org/query/uniprot/Q8MH63 PubMed 12009310 http://www.ncbi.nlm.nih.gov/pubmed/12009310 UniGene Hs.677169 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.677169 UniProtKB LAT1N_HUMAN http://www.uniprot.org/uniprot/LAT1N_HUMAN UniProtKB-AC Q8MH63 http://www.uniprot.org/uniprot/Q8MH63 charge swissprot:LAT1N_HUMAN http://rest.g-language.org/emboss/charge/swissprot:LAT1N_HUMAN epestfind swissprot:LAT1N_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:LAT1N_HUMAN garnier swissprot:LAT1N_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:LAT1N_HUMAN helixturnhelix swissprot:LAT1N_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:LAT1N_HUMAN hmoment swissprot:LAT1N_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:LAT1N_HUMAN iep swissprot:LAT1N_HUMAN http://rest.g-language.org/emboss/iep/swissprot:LAT1N_HUMAN inforesidue swissprot:LAT1N_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:LAT1N_HUMAN neXtProt NX_Q8MH63 http://www.nextprot.org/db/entry/NX_Q8MH63 octanol swissprot:LAT1N_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:LAT1N_HUMAN pepcoil swissprot:LAT1N_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:LAT1N_HUMAN pepdigest swissprot:LAT1N_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:LAT1N_HUMAN pepinfo swissprot:LAT1N_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:LAT1N_HUMAN pepnet swissprot:LAT1N_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:LAT1N_HUMAN pepstats swissprot:LAT1N_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:LAT1N_HUMAN pepwheel swissprot:LAT1N_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:LAT1N_HUMAN pepwindow swissprot:LAT1N_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:LAT1N_HUMAN sigcleave swissprot:LAT1N_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:LAT1N_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS VMAT1_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=P54219-1; Sequence=Displayed; Name=2; Synonyms=VMAT1delta15; IsoId=P54219-2; Sequence=VSP_046305; Note=Unable to uptake serotonin.; Name=3; IsoId=P54219-3; Sequence=VSP_046304; Note=No experimental confirmation available.; # AltName VMAT1_HUMAN Solute carrier family 18 member 1 # AltName VMAT1_HUMAN Vesicular amine transporter 1 # BioGrid 112458 56 # CCDS CCDS47814 -. [P54219-3] # CCDS CCDS47815 -. [P54219-2] # CCDS CCDS6013 -. [P54219-1] # CDD cd06174 MFS # DrugBank DB00206 Reserpine # DrugBank DB00368 Norepinephrine # DrugBank DB01363 Ephedra # DrugBank DB01577 Methamphetamine # Ensembl ENST00000265808 ENSP00000265808; ENSG00000036565. [P54219-3] # Ensembl ENST00000276373 ENSP00000276373; ENSG00000036565. [P54219-1] # Ensembl ENST00000381608 ENSP00000371021; ENSG00000036565. [P54219-2] # Ensembl ENST00000437980 ENSP00000413361; ENSG00000036565. [P54219-2] # Ensembl ENST00000440926 ENSP00000387549; ENSG00000036565. [P54219-1] # Ensembl ENST00000519026 ENSP00000429664; ENSG00000036565. [P54219-3] # ExpressionAtlas P54219 baseline and differential # FUNCTION VMAT1_HUMAN Involved in the transport of biogenic monoamines, such as serotonin, from the cytoplasm into the secretory vesicles of neuroendocrine and endocrine cells. {ECO 0000269|PubMed 16326835}. # GO_component GO:0005789 endoplasmic reticulum membrane; IEA:UniProtKB-SubCell. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0030672 synaptic vesicle membrane; IBA:GO_Central. # GO_component GO:0043195 terminal bouton; IBA:GO_Central. # GO_component GO:0070083 clathrin-sculpted monoamine transport vesicle membrane; TAS:Reactome. # GO_function GO:0008504 monoamine transmembrane transporter activity; TAS:UniProtKB. # GO_function GO:0015222 serotonin transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015238 drug transmembrane transporter activity; IEA:InterPro. # GO_process GO:0007268 chemical synaptic transmission; IBA:GO_Central. # GO_process GO:0015842 aminergic neurotransmitter loading into synaptic vesicle; IBA:GO_Central. # GO_process GO:0015844 monoamine transport; TAS:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007267 cell-cell signaling # Genevisible P54219 HS # HGNC HGNC:10934 SLC18A1 # InterPro IPR004734 Multidrug-R # InterPro IPR011701 MFS # InterPro IPR020846 MFS_dom # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02000 Transporters # KEGG_Brite ko02001 Solute carrier family # KEGG_Pathway ko04721 Synaptic vesicle cycle # KEGG_Pathway ko04726 Serotonergic synapse # KEGG_Pathway ko04728 Dopaminergic synapse # KEGG_Pathway ko05012 Parkinson's disease # KEGG_Pathway ko05030 Cocaine addiction # KEGG_Pathway ko05031 Amphetamine addiction # KEGG_Pathway ko05034 Alcoholism # MIM 193002 gene # Organism VMAT1_HUMAN Homo sapiens (Human) # PROSITE PS50850 MFS # Pfam PF07690 MFS_1 # Proteomes UP000005640 Chromosome 8 # Reactome R-HSA-442660 Na+/Cl- dependent neurotransmitter transporters # RecName VMAT1_HUMAN Chromaffin granule amine transporter # RefSeq NP_001129163 NM_001135691.2. [P54219-1] # RefSeq NP_001135796 NM_001142324.1. [P54219-3] # RefSeq NP_001135797 NM_001142325.1. [P54219-2] # RefSeq NP_003044 NM_003053.3. [P54219-1] # RefSeq XP_011542928 XM_011544626.1. [P54219-3] # RefSeq XP_011542929 XM_011544627.1. [P54219-2] # SIMILARITY Belongs to the major facilitator superfamily. Vesicular transporter family. {ECO 0000305}. # SUBCELLULAR LOCATION VMAT1_HUMAN Isoform 1 Cytoplasmic vesicle membrane {ECO 0000269|PubMed 16326835}; Multi-pass membrane protein {ECO 0000269|PubMed 16326835}. # SUBCELLULAR LOCATION VMAT1_HUMAN Isoform 2 Endoplasmic reticulum membrane {ECO 0000269|PubMed 16326835}; Multi-pass membrane protein {ECO 0000269|PubMed 16326835}. # SUPFAM SSF103473 SSF103473; 2 # TCDB 2.A.1.2.12 the major facilitator superfamily (mfs) # TIGRFAMs TIGR00880 2_A_01_02 # UCSC uc003wzm human. [P54219-1] # eggNOG ENOG410XW69 LUCA # eggNOG KOG3764 Eukaryota BLAST swissprot:VMAT1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:VMAT1_HUMAN BioCyc ZFISH:ENSG00000036565-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000036565-MONOMER COXPRESdb 6570 http://coxpresdb.jp/data/gene/6570.shtml CleanEx HS_SLC18A1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC18A1 CleanEx HS_VAT1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_VAT1 DOI 10.1038/nature04406 http://dx.doi.org/10.1038/nature04406 DOI 10.1073/pnas.93.10.5166 http://dx.doi.org/10.1073/pnas.93.10.5166 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1677/jme.1.01875 http://dx.doi.org/10.1677/jme.1.01875 DrugBank DB00206 http://www.drugbank.ca/drugs/DB00206 DrugBank DB00368 http://www.drugbank.ca/drugs/DB00368 DrugBank DB01363 http://www.drugbank.ca/drugs/DB01363 DrugBank DB01577 http://www.drugbank.ca/drugs/DB01577 EMBL AC025853 http://www.ebi.ac.uk/ena/data/view/AC025853 EMBL BC006317 http://www.ebi.ac.uk/ena/data/view/BC006317 EMBL U39905 http://www.ebi.ac.uk/ena/data/view/U39905 Ensembl ENST00000265808 http://www.ensembl.org/id/ENST00000265808 Ensembl ENST00000276373 http://www.ensembl.org/id/ENST00000276373 Ensembl ENST00000381608 http://www.ensembl.org/id/ENST00000381608 Ensembl ENST00000437980 http://www.ensembl.org/id/ENST00000437980 Ensembl ENST00000440926 http://www.ensembl.org/id/ENST00000440926 Ensembl ENST00000519026 http://www.ensembl.org/id/ENST00000519026 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005789 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005789 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0030672 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030672 GO_component GO:0043195 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043195 GO_component GO:0070083 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070083 GO_function GO:0008504 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008504 GO_function GO:0015222 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015222 GO_function GO:0015238 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015238 GO_process GO:0007268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007268 GO_process GO:0015842 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015842 GO_process GO:0015844 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015844 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GeneCards SLC18A1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC18A1 GeneID 6570 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6570 GeneTree ENSGT00390000003851 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000003851 HGNC HGNC:10934 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10934 HOGENOM HOG000018545 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000018545&db=HOGENOM6 HOVERGEN HBG055082 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG055082&db=HOVERGEN InParanoid P54219 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P54219 InterPro IPR004734 http://www.ebi.ac.uk/interpro/entry/IPR004734 InterPro IPR011701 http://www.ebi.ac.uk/interpro/entry/IPR011701 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 6570 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6570 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:6570 http://www.genome.jp/dbget-bin/www_bget?hsa:6570 KEGG_Orthology KO:K08155 http://www.genome.jp/dbget-bin/www_bget?KO:K08155 KEGG_Pathway ko04721 http://www.genome.jp/kegg-bin/show_pathway?ko04721 KEGG_Pathway ko04726 http://www.genome.jp/kegg-bin/show_pathway?ko04726 KEGG_Pathway ko04728 http://www.genome.jp/kegg-bin/show_pathway?ko04728 KEGG_Pathway ko05012 http://www.genome.jp/kegg-bin/show_pathway?ko05012 KEGG_Pathway ko05030 http://www.genome.jp/kegg-bin/show_pathway?ko05030 KEGG_Pathway ko05031 http://www.genome.jp/kegg-bin/show_pathway?ko05031 KEGG_Pathway ko05034 http://www.genome.jp/kegg-bin/show_pathway?ko05034 MIM 193002 http://www.ncbi.nlm.nih.gov/omim/193002 OMA NNCLQGT http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=NNCLQGT OrthoDB EOG091G0534 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0534 PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PSORT swissprot:VMAT1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:VMAT1_HUMAN PSORT-B swissprot:VMAT1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:VMAT1_HUMAN PSORT2 swissprot:VMAT1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:VMAT1_HUMAN Pfam PF07690 http://pfam.xfam.org/family/PF07690 PharmGKB PA324 http://www.pharmgkb.org/do/serve?objId=PA324&objCls=Gene Phobius swissprot:VMAT1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:VMAT1_HUMAN PhylomeDB P54219 http://phylomedb.org/?seqid=P54219 ProteinModelPortal P54219 http://www.proteinmodelportal.org/query/uniprot/P54219 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16326835 http://www.ncbi.nlm.nih.gov/pubmed/16326835 PubMed 16421571 http://www.ncbi.nlm.nih.gov/pubmed/16421571 PubMed 8643547 http://www.ncbi.nlm.nih.gov/pubmed/8643547 Reactome R-HSA-442660 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-442660 RefSeq NP_001129163 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001129163 RefSeq NP_001135796 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001135796 RefSeq NP_001135797 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001135797 RefSeq NP_003044 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_003044 RefSeq XP_011542928 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011542928 RefSeq XP_011542929 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011542929 STRING 9606.ENSP00000276373 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000276373&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.1.2.12 http://www.tcdb.org/search/result.php?tc=2.A.1.2.12 TIGRFAMs TIGR00880 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00880 UCSC uc003wzm http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003wzm&org=rat UniGene Hs.158322 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.158322 UniProtKB VMAT1_HUMAN http://www.uniprot.org/uniprot/VMAT1_HUMAN UniProtKB-AC P54219 http://www.uniprot.org/uniprot/P54219 charge swissprot:VMAT1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:VMAT1_HUMAN eggNOG ENOG410XW69 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XW69 eggNOG KOG3764 http://eggnogapi.embl.de/nog_data/html/tree/KOG3764 epestfind swissprot:VMAT1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:VMAT1_HUMAN garnier swissprot:VMAT1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:VMAT1_HUMAN helixturnhelix swissprot:VMAT1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:VMAT1_HUMAN hmoment swissprot:VMAT1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:VMAT1_HUMAN iep swissprot:VMAT1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:VMAT1_HUMAN inforesidue swissprot:VMAT1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:VMAT1_HUMAN neXtProt NX_P54219 http://www.nextprot.org/db/entry/NX_P54219 octanol swissprot:VMAT1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:VMAT1_HUMAN pepcoil swissprot:VMAT1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:VMAT1_HUMAN pepdigest swissprot:VMAT1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:VMAT1_HUMAN pepinfo swissprot:VMAT1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:VMAT1_HUMAN pepnet swissprot:VMAT1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:VMAT1_HUMAN pepstats swissprot:VMAT1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:VMAT1_HUMAN pepwheel swissprot:VMAT1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:VMAT1_HUMAN pepwindow swissprot:VMAT1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:VMAT1_HUMAN sigcleave swissprot:VMAT1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:VMAT1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9BRV3-1; Sequence=Displayed; Name=2; IsoId=Q9BRV3-2; Sequence=VSP_034916, VSP_034917; Note=Ref.1 (AAF17233) sequence differs from that shown due to frameshifts in positions 29 and 30. {ECO 0000305}; Name=3; IsoId=Q9BRV3-3; Sequence=VSP_034918; # AltName SWET1_HUMAN RAG1-activating protein 1 # AltName SWET1_HUMAN Solute carrier family 50 member 1 # AltName SWET1_HUMAN Stromal cell protein # BioGrid 121020 2 # CCDS CCDS1093 -. [Q9BRV3-1] # CCDS CCDS44238 -. [Q9BRV3-3] # CCDS CCDS44239 -. [Q9BRV3-2] # ChiTaRS SLC50A1 human # Ensembl ENST00000303343 ENSP00000306146; ENSG00000169241. [Q9BRV3-3] # Ensembl ENST00000368401 ENSP00000357386; ENSG00000169241. [Q9BRV3-2] # Ensembl ENST00000368404 ENSP00000357389; ENSG00000169241. [Q9BRV3-1] # ExpressionAtlas Q9BRV3 baseline and differential # FUNCTION SWET1_HUMAN Mediates sugar transport across membranes. May stimulate V(D)J recombination by the activation of RAG1. {ECO 0000269|PubMed 21107422}. # GO_component GO:0000139 Golgi membrane; IEA:UniProtKB-SubCell. # GO_component GO:0005634 nucleus; IC:HGNC. # GO_component GO:0005794 Golgi apparatus; IDA:UniProtKB. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0012505 endomembrane system; ISS:UniProtKB. # GO_component GO:0016021 integral component of membrane; IBA:GO_Central. # GO_function GO:0042947 glucoside transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0051119 sugar transmembrane transporter activity; IBA:GO_Central. # GO_process GO:0008643 carbohydrate transport; IBA:GO_Central. # GO_process GO:0045815 positive regulation of gene expression, epigenetic; ISS:HGNC. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005794 Golgi apparatus # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # Genevisible Q9BRV3 HS # HGNC HGNC:30657 SLC50A1 # IntAct Q9BRV3 2 # InterPro IPR004316 SWEET_sugar_transpr # KEGG_Brite ko02001 Solute carrier family # MIM 613683 gene # Organism SWET1_HUMAN Homo sapiens (Human) # Pfam PF03083 MtN3_slv; 2 # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-70153 Glucose transport # RecName SWET1_HUMAN Sugar transporter SWEET1 # RefSeq NP_001116309 NM_001122837.1. [Q9BRV3-2] # RefSeq NP_001116311 NM_001122839.1. [Q9BRV3-3] # RefSeq NP_001274515 NM_001287586.1 # RefSeq NP_001274516 NM_001287587.1 # RefSeq NP_001274517 NM_001287588.1 # RefSeq NP_001274519 NM_001287590.1 # RefSeq NP_001274520 NM_001287591.1 # RefSeq NP_001274521 NM_001287592.1 # RefSeq NP_061333 NM_018845.3. [Q9BRV3-1] # SIMILARITY Belongs to the SWEET sugar transporter family. {ECO 0000305}. # SIMILARITY Contains 2 MtN3/slv domains. {ECO 0000305}. # SUBCELLULAR LOCATION SWET1_HUMAN Golgi apparatus membrane {ECO 0000269|PubMed 21107422}; Multi-pass membrane protein {ECO 0000269|PubMed 21107422}. Cell membrane {ECO 0000269|PubMed 21107422}; Multi-pass membrane protein {ECO 0000269|PubMed 21107422}. Note=May also localize to the endoplasmic reticulum. {ECO 0000250}. # SUBUNIT Interacts with TRPV2; the interaction probably occurs intracellularly and depends on TRPV2 N-glycosylation. {ECO 0000250}. # TISSUE SPECIFICITY Ubiquitously expressed with highest expression in oviduct, epididymis and intestine. {ECO:0000269|PubMed 21107422}. # UCSC uc001fhj human. [Q9BRV3-1] # eggNOG ENOG4111M4R LUCA # eggNOG KOG1623 Eukaryota BLAST swissprot:SWET1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SWET1_HUMAN BioCyc ZFISH:ENSG00000169241-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000169241-MONOMER COXPRESdb 55974 http://coxpresdb.jp/data/gene/55974.shtml CleanEx HS_RAG1AP1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_RAG1AP1 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1038/nature09606 http://dx.doi.org/10.1038/nature09606 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.160270997 http://dx.doi.org/10.1073/pnas.160270997 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AF126023 http://www.ebi.ac.uk/ena/data/view/AF126023 EMBL AF126024 http://www.ebi.ac.uk/ena/data/view/AF126024 EMBL AK289551 http://www.ebi.ac.uk/ena/data/view/AK289551 EMBL AL691442 http://www.ebi.ac.uk/ena/data/view/AL691442 EMBL AL691442 http://www.ebi.ac.uk/ena/data/view/AL691442 EMBL AL691442 http://www.ebi.ac.uk/ena/data/view/AL691442 EMBL BC005943 http://www.ebi.ac.uk/ena/data/view/BC005943 EMBL BC009621 http://www.ebi.ac.uk/ena/data/view/BC009621 EMBL CR457148 http://www.ebi.ac.uk/ena/data/view/CR457148 Ensembl ENST00000303343 http://www.ensembl.org/id/ENST00000303343 Ensembl ENST00000368401 http://www.ensembl.org/id/ENST00000368401 Ensembl ENST00000368404 http://www.ensembl.org/id/ENST00000368404 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000139 GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0012505 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0012505 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0042947 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042947 GO_function GO:0051119 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051119 GO_process GO:0008643 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008643 GO_process GO:0045815 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045815 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GeneCards SLC50A1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC50A1 GeneID 55974 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=55974 GeneTree ENSGT00390000007801 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000007801 H-InvDB HIX0199799 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0199799 HGNC HGNC:30657 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:30657 HOVERGEN HBG055287 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG055287&db=HOVERGEN HPA HPA018095 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA018095 InParanoid Q9BRV3 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9BRV3 IntAct Q9BRV3 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9BRV3* InterPro IPR004316 http://www.ebi.ac.uk/interpro/entry/IPR004316 Jabion 55974 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=55974 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:55974 http://www.genome.jp/dbget-bin/www_bget?hsa:55974 KEGG_Orthology KO:K15382 http://www.genome.jp/dbget-bin/www_bget?KO:K15382 MIM 613683 http://www.ncbi.nlm.nih.gov/omim/613683 OMA INNLSWL http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=INNLSWL OrthoDB EOG091G0J82 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0J82 PSORT swissprot:SWET1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SWET1_HUMAN PSORT-B swissprot:SWET1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SWET1_HUMAN PSORT2 swissprot:SWET1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SWET1_HUMAN Pfam PF03083 http://pfam.xfam.org/family/PF03083 PharmGKB PA142671099 http://www.pharmgkb.org/do/serve?objId=PA142671099&objCls=Gene Phobius swissprot:SWET1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SWET1_HUMAN PhylomeDB Q9BRV3 http://phylomedb.org/?seqid=Q9BRV3 ProteinModelPortal Q9BRV3 http://www.proteinmodelportal.org/query/uniprot/Q9BRV3 PubMed 10931946 http://www.ncbi.nlm.nih.gov/pubmed/10931946 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 21107422 http://www.ncbi.nlm.nih.gov/pubmed/21107422 Reactome R-HSA-70153 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-70153 RefSeq NP_001116309 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001116309 RefSeq NP_001116311 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001116311 RefSeq NP_001274515 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001274515 RefSeq NP_001274516 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001274516 RefSeq NP_001274517 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001274517 RefSeq NP_001274519 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001274519 RefSeq NP_001274520 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001274520 RefSeq NP_001274521 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001274521 RefSeq NP_061333 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_061333 STRING 9606.ENSP00000357389 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000357389&targetmode=cogs UCSC uc001fhj http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001fhj&org=rat UniGene Hs.292154 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.292154 UniProtKB SWET1_HUMAN http://www.uniprot.org/uniprot/SWET1_HUMAN UniProtKB-AC Q9BRV3 http://www.uniprot.org/uniprot/Q9BRV3 charge swissprot:SWET1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SWET1_HUMAN eggNOG ENOG4111M4R http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111M4R eggNOG KOG1623 http://eggnogapi.embl.de/nog_data/html/tree/KOG1623 epestfind swissprot:SWET1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SWET1_HUMAN garnier swissprot:SWET1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SWET1_HUMAN helixturnhelix swissprot:SWET1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SWET1_HUMAN hmoment swissprot:SWET1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SWET1_HUMAN iep swissprot:SWET1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SWET1_HUMAN inforesidue swissprot:SWET1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SWET1_HUMAN neXtProt NX_Q9BRV3 http://www.nextprot.org/db/entry/NX_Q9BRV3 octanol swissprot:SWET1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SWET1_HUMAN pepcoil swissprot:SWET1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SWET1_HUMAN pepdigest swissprot:SWET1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SWET1_HUMAN pepinfo swissprot:SWET1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SWET1_HUMAN pepnet swissprot:SWET1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SWET1_HUMAN pepstats swissprot:SWET1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SWET1_HUMAN pepwheel swissprot:SWET1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SWET1_HUMAN pepwindow swissprot:SWET1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SWET1_HUMAN sigcleave swissprot:SWET1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SWET1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS SIDT2_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8NBJ9-1; Sequence=Displayed; Name=2; IsoId=Q8NBJ9-2; Sequence=VSP_013523, VSP_013524; Note=No experimental confirmation available.; # BioGrid 119281 16 # CCDS CCDS31682 -. [Q8NBJ9-1] # ChiTaRS SIDT2 human # Ensembl ENST00000324225 ENSP00000314023; ENSG00000149577. [Q8NBJ9-1] # Ensembl ENST00000620360 ENSP00000482762; ENSG00000149577. [Q8NBJ9-1] # ExpressionAtlas Q8NBJ9 baseline and differential # GO_component GO:0005765 lysosomal membrane; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0003725 double-stranded RNA binding; IEA:Ensembl. # GO_function GO:0051033 RNA transmembrane transporter activity; IEA:InterPro. # GO_process GO:0000902 cell morphogenesis; IEA:Ensembl. # GO_process GO:0003323 type B pancreatic cell development; IEA:Ensembl. # GO_process GO:0009749 response to glucose; IEA:Ensembl. # GO_process GO:0033227 dsRNA transport; IEA:InterPro. # GO_process GO:0042593 glucose homeostasis; IEA:Ensembl. # GO_process GO:0044342 type B pancreatic cell proliferation; IEA:Ensembl. # GO_process GO:0061178 regulation of insulin secretion involved in cellular response to glucose stimulus; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0003723 RNA binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0000902 cell morphogenesis # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0008283 cell proliferation # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0048856 anatomical structure development # Genevisible Q8NBJ9 HS # HGNC HGNC:24272 SIDT2 # IntAct Q8NBJ9 2 # InterPro IPR025958 SID1_TM_fam # Organism SIDT2_HUMAN Homo sapiens (Human) # PTM SIDT2_HUMAN Glycosylated. {ECO 0000250}. # Pfam PF13965 SID-1_RNA_chan # Proteomes UP000005640 Chromosome 11 # RecName SIDT2_HUMAN SID1 transmembrane family member 2 # RefSeq NP_001035545 NM_001040455.1. [Q8NBJ9-1] # SEQUENCE CAUTION Sequence=BAC11427.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAC11641.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the SID1 family. {ECO 0000305}. # SUBCELLULAR LOCATION SIDT2_HUMAN Lysosome membrane {ECO 0000269|PubMed 17897319}; Multi-pass membrane protein {ECO 0000269|PubMed 17897319}. # TCDB 1.A.79.1 the cholesterol uptake protein (chup) or double stranded rna uptake family # UCSC uc001pqh human. [Q8NBJ9-1] # eggNOG ENOG410IF6Z Eukaryota # eggNOG ENOG410XPBN LUCA BLAST swissprot:SIDT2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SIDT2_HUMAN COXPRESdb 51092 http://coxpresdb.jp/data/gene/51092.shtml CleanEx HS_SIDT2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SIDT2 DOI 10.1016/j.cell.2006.09.026 http://dx.doi.org/10.1016/j.cell.2006.09.026 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1093/dnares/12.2.117 http://dx.doi.org/10.1093/dnares/12.2.117 DOI 10.1101/gr.10.5.703 http://dx.doi.org/10.1101/gr.10.5.703 DOI 10.1101/gr.1293003 http://dx.doi.org/10.1101/gr.1293003 DOI 10.1110/ps.04682504 http://dx.doi.org/10.1110/ps.04682504 DOI 10.1111/j.1600-0854.2007.00643.x http://dx.doi.org/10.1111/j.1600-0854.2007.00643.x EMBL AF151799 http://www.ebi.ac.uk/ena/data/view/AF151799 EMBL AK075137 http://www.ebi.ac.uk/ena/data/view/AK075137 EMBL AK075471 http://www.ebi.ac.uk/ena/data/view/AK075471 EMBL AY358442 http://www.ebi.ac.uk/ena/data/view/AY358442 Ensembl ENST00000324225 http://www.ensembl.org/id/ENST00000324225 Ensembl ENST00000620360 http://www.ensembl.org/id/ENST00000620360 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005765 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005765 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0003725 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003725 GO_function GO:0051033 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051033 GO_process GO:0000902 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000902 GO_process GO:0003323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003323 GO_process GO:0009749 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009749 GO_process GO:0033227 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033227 GO_process GO:0042593 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042593 GO_process GO:0044342 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044342 GO_process GO:0061178 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061178 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0003723 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003723 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0000902 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000902 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0008283 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008283 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GeneCards SIDT2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SIDT2 GeneID 51092 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=51092 GeneTree ENSGT00390000010091 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000010091 H-InvDB HIX0010161 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0010161 HGNC HGNC:24272 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:24272 HOGENOM HOG000020635 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000020635&db=HOGENOM6 HOVERGEN HBG079188 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG079188&db=HOVERGEN HPA HPA052352 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA052352 InParanoid Q8NBJ9 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8NBJ9 IntAct Q8NBJ9 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q8NBJ9* InterPro IPR025958 http://www.ebi.ac.uk/interpro/entry/IPR025958 Jabion 51092 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=51092 KEGG_Gene hsa:51092 http://www.genome.jp/dbget-bin/www_bget?hsa:51092 PSORT swissprot:SIDT2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SIDT2_HUMAN PSORT-B swissprot:SIDT2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SIDT2_HUMAN PSORT2 swissprot:SIDT2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SIDT2_HUMAN Pfam PF13965 http://pfam.xfam.org/family/PF13965 PharmGKB PA134910333 http://www.pharmgkb.org/do/serve?objId=PA134910333&objCls=Gene Phobius swissprot:SIDT2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SIDT2_HUMAN PhylomeDB Q8NBJ9 http://phylomedb.org/?seqid=Q8NBJ9 ProteinModelPortal Q8NBJ9 http://www.proteinmodelportal.org/query/uniprot/Q8NBJ9 PubMed 10810093 http://www.ncbi.nlm.nih.gov/pubmed/10810093 PubMed 12975309 http://www.ncbi.nlm.nih.gov/pubmed/12975309 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15340161 http://www.ncbi.nlm.nih.gov/pubmed/15340161 PubMed 16303743 http://www.ncbi.nlm.nih.gov/pubmed/16303743 PubMed 17081983 http://www.ncbi.nlm.nih.gov/pubmed/17081983 PubMed 17897319 http://www.ncbi.nlm.nih.gov/pubmed/17897319 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 RefSeq NP_001035545 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001035545 STRING 9606.ENSP00000314023 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000314023&targetmode=cogs TCDB 1.A.79.1 http://www.tcdb.org/search/result.php?tc=1.A.79.1 UCSC uc001pqh http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001pqh&org=rat UniGene Hs.712144 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.712144 UniProtKB SIDT2_HUMAN http://www.uniprot.org/uniprot/SIDT2_HUMAN UniProtKB-AC Q8NBJ9 http://www.uniprot.org/uniprot/Q8NBJ9 charge swissprot:SIDT2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SIDT2_HUMAN eggNOG ENOG410IF6Z http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IF6Z eggNOG ENOG410XPBN http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XPBN epestfind swissprot:SIDT2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SIDT2_HUMAN garnier swissprot:SIDT2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SIDT2_HUMAN helixturnhelix swissprot:SIDT2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SIDT2_HUMAN hmoment swissprot:SIDT2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SIDT2_HUMAN iep swissprot:SIDT2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SIDT2_HUMAN inforesidue swissprot:SIDT2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SIDT2_HUMAN neXtProt NX_Q8NBJ9 http://www.nextprot.org/db/entry/NX_Q8NBJ9 octanol swissprot:SIDT2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SIDT2_HUMAN pepcoil swissprot:SIDT2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SIDT2_HUMAN pepdigest swissprot:SIDT2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SIDT2_HUMAN pepinfo swissprot:SIDT2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SIDT2_HUMAN pepnet swissprot:SIDT2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SIDT2_HUMAN pepstats swissprot:SIDT2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SIDT2_HUMAN pepwheel swissprot:SIDT2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SIDT2_HUMAN pepwindow swissprot:SIDT2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SIDT2_HUMAN sigcleave swissprot:SIDT2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SIDT2_HUMAN ## Database ID URL or Descriptions # AltName ZNT7_HUMAN Solute carrier family 30 member 7 # AltName ZNT7_HUMAN Znt-like transporter 2 # BioGrid 127176 19 # ChiTaRS SLC30A7 human # Ensembl ENST00000357650 ENSP00000350278; ENSG00000162695 # Ensembl ENST00000370112 ENSP00000359130; ENSG00000162695 # ExpressionAtlas Q8NEW0 baseline and differential # FUNCTION ZNT7_HUMAN Seems to facilitate zinc transport from the cytoplasm into the Golgi apparatus. Partly regulates cellular zinc homeostasis. Required with ZNT5 for the activation of zinc- requiring enzymes, alkaline phosphatases (ALPs). Transports zinc into the lumens of the Golgi apparatus and the vesicular compartments where ALPs locate, thus, converting apoALPs to holoALPs. Required with ZNT5 and ZNT6 for the activation of TNAP (By similarity). {ECO 0000250, ECO 0000269|PubMed 15276077, ECO 0000269|PubMed 15994300}. # GO_component GO:0005737 cytoplasm; IDA:BHF-UCL. # GO_component GO:0005794 Golgi apparatus; IDA:LIFEdb. # GO_component GO:0016020 membrane; IBA:GO_Central. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0016023 cytoplasmic, membrane-bounded vesicle; IEA:Ensembl. # GO_component GO:0031982 vesicle; IDA:BHF-UCL. # GO_component GO:0048471 perinuclear region of cytoplasm; IEA:Ensembl. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0005385 zinc ion transmembrane transporter activity; IBA:GO_Central. # GO_process GO:0010043 response to zinc ion; IBA:GO_Central. # GO_process GO:0032119 sequestering of zinc ion; IEA:Ensembl. # GO_process GO:0061088 regulation of sequestering of zinc ion; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005794 Golgi apparatus # GOslim_component GO:0043226 organelle # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0008150 biological_process # Gene3D 1.20.1510.10 -; 2. # Genevisible Q8NEW0 HS # HGNC HGNC:19306 SLC30A7 # INDUCTION Increased intracellular zinc level, resulting from extracellular zinc supplementation, do not induce any up- or down- regulation of gene expression. Up-regulated by zinc depletion. {ECO:0000269|PubMed 15276077}. # IntAct Q8NEW0 11 # InterPro IPR002524 Cation_efflux # InterPro IPR027469 Cation_efflux_TMD # KEGG_Brite ko02001 Solute carrier family # MIM 611149 gene # Organism ZNT7_HUMAN Homo sapiens (Human) # PANTHER PTHR11562 PTHR11562; 2 # Pfam PF01545 Cation_efflux # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-264876 Insulin processing # Reactome R-HSA-435368 Zinc efflux and compartmentalization by the SLC30 family # RecName ZNT7_HUMAN Zinc transporter 7 # RefSeq NP_001138356 NM_001144884.1 # RefSeq NP_598003 NM_133496.4 # RefSeq XP_016855889 XM_017000400.1 # SIMILARITY Belongs to the cation diffusion facilitator (CDF) transporter (TC 2.A.4) family. SLC30A subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION ZNT7_HUMAN Golgi apparatus, trans-Golgi network membrane {ECO 0000269|PubMed 12446736}; Multi-pass membrane protein {ECO 0000269|PubMed 12446736}. # SUBUNIT ZNT7_HUMAN Homooligomer. # TCDB 2.A.4.4 the cation diffusion facilitator (cdf) family # TIGRFAMs TIGR01297 CDF # UCSC uc001dtn human # eggNOG COG1230 LUCA # eggNOG KOG1484 Eukaryota BLAST swissprot:ZNT7_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ZNT7_HUMAN BioCyc ZFISH:ENSG00000162695-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000162695-MONOMER COG COG1230 http://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=COG1230 COXPRESdb 148867 http://coxpresdb.jp/data/gene/148867.shtml CleanEx HS_SLC30A7 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC30A7 DOI 10.1016/j.bcp.2004.05.024 http://dx.doi.org/10.1016/j.bcp.2004.05.024 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.M207644200 http://dx.doi.org/10.1074/jbc.M207644200 DOI 10.1074/jbc.M506902200 http://dx.doi.org/10.1074/jbc.M506902200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 EMBL AC104506 http://www.ebi.ac.uk/ena/data/view/AC104506 EMBL AF233345 http://www.ebi.ac.uk/ena/data/view/AF233345 EMBL AF529197 http://www.ebi.ac.uk/ena/data/view/AF529197 EMBL AK313638 http://www.ebi.ac.uk/ena/data/view/AK313638 EMBL AL732465 http://www.ebi.ac.uk/ena/data/view/AL732465 EMBL AY094606 http://www.ebi.ac.uk/ena/data/view/AY094606 EMBL BC064692 http://www.ebi.ac.uk/ena/data/view/BC064692 EMBL BX537375 http://www.ebi.ac.uk/ena/data/view/BX537375 EMBL CH471097 http://www.ebi.ac.uk/ena/data/view/CH471097 EMBL CH471097 http://www.ebi.ac.uk/ena/data/view/CH471097 Ensembl ENST00000357650 http://www.ensembl.org/id/ENST00000357650 Ensembl ENST00000370112 http://www.ensembl.org/id/ENST00000370112 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0016023 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016023 GO_component GO:0031982 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031982 GO_component GO:0048471 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048471 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0005385 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005385 GO_process GO:0010043 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010043 GO_process GO:0032119 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032119 GO_process GO:0061088 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061088 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 Gene3D 1.20.1510.10 http://www.cathdb.info/version/latest/superfamily/1.20.1510.10 GeneCards SLC30A7 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC30A7 GeneID 148867 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=148867 GeneTree ENSGT00630000089781 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00630000089781 HGNC HGNC:19306 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:19306 HOGENOM HOG000018690 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000018690&db=HOGENOM6 HOVERGEN HBG056637 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG056637&db=HOVERGEN HPA HPA018034 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA018034 InParanoid Q8NEW0 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8NEW0 IntAct Q8NEW0 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q8NEW0* InterPro IPR002524 http://www.ebi.ac.uk/interpro/entry/IPR002524 InterPro IPR027469 http://www.ebi.ac.uk/interpro/entry/IPR027469 Jabion 148867 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=148867 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:148867 http://www.genome.jp/dbget-bin/www_bget?hsa:148867 KEGG_Orthology KO:K14692 http://www.genome.jp/dbget-bin/www_bget?KO:K14692 MIM 611149 http://www.ncbi.nlm.nih.gov/omim/611149 MINT MINT-4723925 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-4723925 OMA NEKYSYG http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=NEKYSYG OrthoDB EOG091G030D http://cegg.unige.ch/orthodb/results?searchtext=EOG091G030D PANTHER PTHR11562 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11562 PSORT swissprot:ZNT7_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ZNT7_HUMAN PSORT-B swissprot:ZNT7_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ZNT7_HUMAN PSORT2 swissprot:ZNT7_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ZNT7_HUMAN Pfam PF01545 http://pfam.xfam.org/family/PF01545 PharmGKB PA134891595 http://www.pharmgkb.org/do/serve?objId=PA134891595&objCls=Gene Phobius swissprot:ZNT7_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ZNT7_HUMAN PhylomeDB Q8NEW0 http://phylomedb.org/?seqid=Q8NEW0 ProteinModelPortal Q8NEW0 http://www.proteinmodelportal.org/query/uniprot/Q8NEW0 PubMed 12446736 http://www.ncbi.nlm.nih.gov/pubmed/12446736 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15276077 http://www.ncbi.nlm.nih.gov/pubmed/15276077 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15994300 http://www.ncbi.nlm.nih.gov/pubmed/15994300 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 Reactome R-HSA-264876 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-264876 Reactome R-HSA-435368 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-435368 RefSeq NP_001138356 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001138356 RefSeq NP_598003 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_598003 RefSeq XP_016855889 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016855889 STRING 9606.ENSP00000350278 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000350278&targetmode=cogs STRING COG1230 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=COG1230&targetmode=cogs TCDB 2.A.4.4 http://www.tcdb.org/search/result.php?tc=2.A.4.4 TIGRFAMs TIGR01297 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01297 UCSC uc001dtn http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001dtn&org=rat UniGene Hs.533903 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.533903 UniProtKB ZNT7_HUMAN http://www.uniprot.org/uniprot/ZNT7_HUMAN UniProtKB-AC Q8NEW0 http://www.uniprot.org/uniprot/Q8NEW0 charge swissprot:ZNT7_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ZNT7_HUMAN eggNOG COG1230 http://eggnogapi.embl.de/nog_data/html/tree/COG1230 eggNOG KOG1484 http://eggnogapi.embl.de/nog_data/html/tree/KOG1484 epestfind swissprot:ZNT7_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ZNT7_HUMAN garnier swissprot:ZNT7_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ZNT7_HUMAN helixturnhelix swissprot:ZNT7_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ZNT7_HUMAN hmoment swissprot:ZNT7_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ZNT7_HUMAN iep swissprot:ZNT7_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ZNT7_HUMAN inforesidue swissprot:ZNT7_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ZNT7_HUMAN neXtProt NX_Q8NEW0 http://www.nextprot.org/db/entry/NX_Q8NEW0 octanol swissprot:ZNT7_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ZNT7_HUMAN pepcoil swissprot:ZNT7_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ZNT7_HUMAN pepdigest swissprot:ZNT7_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ZNT7_HUMAN pepinfo swissprot:ZNT7_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ZNT7_HUMAN pepnet swissprot:ZNT7_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ZNT7_HUMAN pepstats swissprot:ZNT7_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ZNT7_HUMAN pepwheel swissprot:ZNT7_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ZNT7_HUMAN pepwindow swissprot:ZNT7_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ZNT7_HUMAN sigcleave swissprot:ZNT7_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ZNT7_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS TRPV6_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9H1D0-1; Sequence=Displayed; Name=2; IsoId=Q9H1D0-2; Sequence=VSP_013439; # AltName CaT-like {ECO:0000303|PubMed 11278579} # AltName Calcium transport protein 1 {ECO:0000303|PubMed 11097838} # AltName TRPV6_HUMAN Epithelial calcium channel 2 # BioGrid 120683 14 # CCDS CCDS5874 -. [Q9H1D0-1] # Ensembl ENST00000359396 ENSP00000352358; ENSG00000165125 # ExpressionAtlas Q9H1D0 baseline and differential # FUNCTION TRPV6_HUMAN Calcium selective cation channel that mediates Ca(2+) uptake in various tissues, including the intestine (PubMed 11097838, PubMed 11278579, PubMed 11248124 PubMed 15184369, PubMed 23612980). Important for normal Ca(2+) ion homeostasis in the body, including bone and skin (By similarity). The channel is activated by low internal calcium level, probably including intracellular calcium store depletion, and the current exhibits an inward rectification (PubMed 15184369). Inactivation includes both a rapid Ca(2+)-dependent and a slower Ca(2+)- calmodulin-dependent mechanism; the latter may be regulated by phosphorylation. In vitro, is slowly inhibited by Mg(2+) in a voltage-independent manner. Heteromeric assembly with TRPV5 seems to modify channel properties. TRPV5-TRPV6 heteromultimeric concatemers exhibit voltage-dependent gating. {ECO 0000250|UniProtKB Q91WD2, ECO 0000269|PubMed 11097838, ECO 0000269|PubMed 11248124, ECO 0000269|PubMed 11278579, ECO 0000269|PubMed 15184369, ECO 0000269|PubMed 23612980}. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0005887 integral component of plasma membrane; IDA:UniProtKB. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0005262 calcium channel activity; IDA:UniProtKB. # GO_function GO:0005516 calmodulin binding; IDA:UniProtKB. # GO_function GO:0046872 metal ion binding; IEA:UniProtKB-KW. # GO_process GO:0006816 calcium ion transport; IDA:UniProtKB. # GO_process GO:0017158 regulation of calcium ion-dependent exocytosis; NAS:UniProtKB. # GO_process GO:0051592 response to calcium ion; ISS:UniProtKB. # GO_process GO:0055074 calcium ion homeostasis; ISS:UniProtKB. # GO_process GO:0070588 calcium ion transmembrane transport; IDA:UniProtKB. # GO_process GO:1990035 calcium ion import into cell; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.25.40.20 -; 2. # Genevisible Q9H1D0 HS # HGNC HGNC:14006 TRPV6 # INTERACTION TRPV6_HUMAN P18031 PTPN1; NbExp=6; IntAct=EBI-7198335, EBI-968788; # IntAct Q9H1D0 2 # InterPro IPR002110 Ankyrin_rpt # InterPro IPR004729 TRP_channel # InterPro IPR005821 Ion_trans_dom # InterPro IPR008344 TRPV5/TRPV6 # InterPro IPR008345 TRPV6_channel # InterPro IPR020683 Ankyrin_rpt-contain_dom # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04970 Salivary secretion # KEGG_Pathway ko04978 Mineral absorption # MIM 606680 gene # Organism TRPV6_HUMAN Homo sapiens (Human) # PIR JC7531 JC7531 # PRINTS PR01415 ANKYRIN # PRINTS PR01765 ECACCHANNEL # PRINTS PR01766 ECACCHANNEL1 # PROSITE PS50088 ANK_REPEAT; 2 # PROSITE PS50297 ANK_REP_REGION # PTM TRPV6_HUMAN Glycosylated. {ECO 0000250|UniProtKB Q91WD2, ECO 0000269|PubMed 23612980}. # PTM TRPV6_HUMAN Phosphorylation at Tyr-201 by SRC leads to an increased calcium influx through the channel. Probably dephosphorylated at this site by PTPN1 (By similarity). Phosphorylation by PRKCA at the calmodulin binding site delays channel inactivation (PubMed 11248124). {ECO 0000250|UniProtKB Q9R186, ECO 0000269|PubMed 11248124}. # Pfam PF00023 Ank # Pfam PF00520 Ion_trans # Pfam PF12796 Ank_2 # Proteomes UP000005640 Chromosome 7 # Reactome R-HSA-3295583 TRP channels # RecName TRPV6_HUMAN Transient receptor potential cation channel subfamily V member 6 # RefSeq NP_061116 NM_018646.5. [Q9H1D0-1] # SEQUENCE CAUTION TRPV6_HUMAN Sequence=AAK50426.1; Type=Miscellaneous discrepancy; Note=Unusual initiator. The initiator methionine is coded by a non-canonical ACG threonine codon.; Evidence={ECO 0000305|PubMed 23612980}; Sequence=AAL40230.1; Type=Miscellaneous discrepancy; Note=Unusual initiator. The initiator methionine is coded by a non-canonical ACG threonine codon.; Evidence={ECO 0000305|PubMed 23612980}; Sequence=AAM00356.1; Type=Miscellaneous discrepancy; Note=Unusual initiator. The initiator methionine is coded by a non-canonical ACG threonine codon.; Evidence={ECO 0000305|PubMed 23612980}; Sequence=AAO38052.1; Type=Miscellaneous discrepancy; Note=Unusual initiator. The initiator methionine is coded by a non-canonical ACG threonine codon.; Evidence={ECO 0000305|PubMed 23612980}; Sequence=BAF84396.1; Type=Miscellaneous discrepancy; Note=Unusual initiator. The initiator methionine is coded by a non-canonical ACG threonine codon.; Evidence={ECO 0000305|PubMed 23612980}; Sequence=CAC20416.2; Type=Miscellaneous discrepancy; Note=Unusual initiator. The initiator methionine is coded by a non-canonical ACG threonine codon.; Evidence={ECO 0000305|PubMed 23612980}; Sequence=CAC20417.2; Type=Miscellaneous discrepancy; Note=Unusual initiator. The initiator methionine is coded by a non-canonical ACG threonine codon.; Evidence={ECO 0000305|PubMed 23612980}; Sequence=CAD32311.1; Type=Miscellaneous discrepancy; Note=Unusual initiator. The initiator methionine is coded by a non-canonical ACG threonine codon.; Evidence={ECO 0000305|PubMed 23612980}; # SIMILARITY Belongs to the transient receptor (TC 1.A.4) family. TrpV subfamily. TRPV6 sub-subfamily. {ECO 0000305}. # SIMILARITY Contains 6 ANK repeats. {ECO:0000255|PROSITE- ProRule PRU00023}. # SMART SM00248 ANK; 5 # SUBCELLULAR LOCATION TRPV6_HUMAN Cell membrane {ECO 0000269|PubMed 11097838, ECO 0000269|PubMed 11248124, ECO 0000269|PubMed 11278579, ECO 0000269|PubMed 15184369, ECO 0000269|PubMed 23612980}; Multi- pass membrane protein {ECO 0000250|UniProtKB Q91WD2}. # SUBUNIT TRPV6_HUMAN Homotetramer and probably heterotetramer with TRPV5. Interacts with TRPV5. Interacts with S100A10 and probably with the ANAX2-S100A10 heterotetramer. The interaction with S100A10 is required for the trafficking to the plasma membrane. Interacts with BSPRY (By similarity). Interacts with TCAF1 and TCAF2 isoform 2 (PubMed 25559186). Interacts with calmodulin (PubMed 11248124). {ECO 0000250|UniProtKB Q91WD2, ECO 0000269|PubMed 11248124, ECO 0000269|PubMed 25559186}. # SUPFAM SSF48403 SSF48403 # TCDB 1.A.4.2.11 the transient receptor potential ca(2+) channel (trp-cc) family # TIGRFAMs TIGR00870 trp # TISSUE SPECIFICITY TRPV6_HUMAN Expressed at high levels in the gastrointestinal tract, including esophagus, stomach, duodenum, jejunum, ileum and colon, and in pancreas, placenta, prostate and salivary gland. Expressed at moderate levels in liver, kidney and testis. Expressed in trophoblasts of placenta villus trees (at protein level)(PubMed 23612980). Expressed in locally advanced prostate cancer, metastatic and androgen-insensitive prostatic lesions but not detected in healthy prostate tissue and benign prostatic hyperplasia. {ECO 0000269|PubMed 11097838, ECO 0000269|PubMed 11278579, ECO 0000269|PubMed 23612980}. # UCSC uc003wbx human. [Q9H1D0-1] # WEB RESOURCE TRPV6_HUMAN Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http //atlasgeneticsoncology.org/Genes/TRPV6ID44425ch7q34.html"; # WEB RESOURCE TRPV6_HUMAN Name=SeattleSNPs; URL="http //pga.gs.washington.edu/data/trpv5/"; # WEB RESOURCE TRPV6_HUMAN Name=Wikipedia; Note=TRPV6 entry; URL="https //en.wikipedia.org/wiki/TRPV6"; # eggNOG ENOG4110DG4 LUCA # eggNOG KOG3676 Eukaryota BLAST swissprot:TRPV6_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:TRPV6_HUMAN BioCyc ZFISH:ENSG00000165125-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000165125-MONOMER COXPRESdb 55503 http://coxpresdb.jp/data/gene/55503.shtml CleanEx HS_TRPV6 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_TRPV6 DOI 10.1006/bbrc.2000.3716 http://dx.doi.org/10.1006/bbrc.2000.3716 DOI 10.1006/geno.2001.6606 http://dx.doi.org/10.1006/geno.2001.6606 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.051511398 http://dx.doi.org/10.1073/pnas.051511398 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1074/jbc.M009895200 http://dx.doi.org/10.1074/jbc.M009895200 DOI 10.1074/jbc.M113.469726 http://dx.doi.org/10.1074/jbc.M113.469726 DOI 10.1074/jbc.M404679200 http://dx.doi.org/10.1074/jbc.M404679200 DOI 10.1083/jcb.201402076 http://dx.doi.org/10.1083/jcb.201402076 DOI 10.1126/science.1083423 http://dx.doi.org/10.1126/science.1083423 DOI 10.1186/1472-6793-1-11 http://dx.doi.org/10.1186/1472-6793-1-11 EMBL AF304463 http://www.ebi.ac.uk/ena/data/view/AF304463 EMBL AF365927 http://www.ebi.ac.uk/ena/data/view/AF365927 EMBL AF365928 http://www.ebi.ac.uk/ena/data/view/AF365928 EMBL AH010730 http://www.ebi.ac.uk/ena/data/view/AH010730 EMBL AJ243500 http://www.ebi.ac.uk/ena/data/view/AJ243500 EMBL AJ243501 http://www.ebi.ac.uk/ena/data/view/AJ243501 EMBL AJ487964 http://www.ebi.ac.uk/ena/data/view/AJ487964 EMBL AK291707 http://www.ebi.ac.uk/ena/data/view/AK291707 EMBL AY225461 http://www.ebi.ac.uk/ena/data/view/AY225461 EMBL CH236959 http://www.ebi.ac.uk/ena/data/view/CH236959 Ensembl ENST00000359396 http://www.ensembl.org/id/ENST00000359396 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0005262 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005262 GO_function GO:0005516 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005516 GO_function GO:0046872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046872 GO_process GO:0006816 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006816 GO_process GO:0017158 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0017158 GO_process GO:0051592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051592 GO_process GO:0055074 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055074 GO_process GO:0070588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070588 GO_process GO:1990035 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1990035 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.25.40.20 http://www.cathdb.info/version/latest/superfamily/1.25.40.20 GeneCards TRPV6 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=TRPV6 GeneID 55503 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=55503 H-InvDB HIX0007162 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0007162 HGNC HGNC:14006 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:14006 HOVERGEN HBG061442 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG061442&db=HOVERGEN HPA HPA062644 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA062644 HPA HPA062864 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA062864 InParanoid Q9H1D0 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9H1D0 IntAct Q9H1D0 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9H1D0* InterPro IPR002110 http://www.ebi.ac.uk/interpro/entry/IPR002110 InterPro IPR004729 http://www.ebi.ac.uk/interpro/entry/IPR004729 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR008344 http://www.ebi.ac.uk/interpro/entry/IPR008344 InterPro IPR008345 http://www.ebi.ac.uk/interpro/entry/IPR008345 InterPro IPR020683 http://www.ebi.ac.uk/interpro/entry/IPR020683 Jabion 55503 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=55503 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:55503 http://www.genome.jp/dbget-bin/www_bget?hsa:55503 KEGG_Orthology KO:K04975 http://www.genome.jp/dbget-bin/www_bget?KO:K04975 KEGG_Pathway ko04970 http://www.genome.jp/kegg-bin/show_pathway?ko04970 KEGG_Pathway ko04978 http://www.genome.jp/kegg-bin/show_pathway?ko04978 MIM 606680 http://www.ncbi.nlm.nih.gov/omim/606680 MINT MINT-1472896 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1472896 OrthoDB EOG091G0314 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0314 PRINTS PR01415 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01415 PRINTS PR01765 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01765 PRINTS PR01766 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01766 PROSITE PS50088 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50088 PROSITE PS50297 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50297 PSORT swissprot:TRPV6_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:TRPV6_HUMAN PSORT-B swissprot:TRPV6_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:TRPV6_HUMAN PSORT2 swissprot:TRPV6_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:TRPV6_HUMAN Pfam PF00023 http://pfam.xfam.org/family/PF00023 Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF12796 http://pfam.xfam.org/family/PF12796 PharmGKB PA37832 http://www.pharmgkb.org/do/serve?objId=PA37832&objCls=Gene Phobius swissprot:TRPV6_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:TRPV6_HUMAN ProteinModelPortal Q9H1D0 http://www.proteinmodelportal.org/query/uniprot/Q9H1D0 PubMed 11097838 http://www.ncbi.nlm.nih.gov/pubmed/11097838 PubMed 11248124 http://www.ncbi.nlm.nih.gov/pubmed/11248124 PubMed 11278579 http://www.ncbi.nlm.nih.gov/pubmed/11278579 PubMed 11545681 http://www.ncbi.nlm.nih.gov/pubmed/11545681 PubMed 11549322 http://www.ncbi.nlm.nih.gov/pubmed/11549322 PubMed 12690205 http://www.ncbi.nlm.nih.gov/pubmed/12690205 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15184369 http://www.ncbi.nlm.nih.gov/pubmed/15184369 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 23612980 http://www.ncbi.nlm.nih.gov/pubmed/23612980 PubMed 25559186 http://www.ncbi.nlm.nih.gov/pubmed/25559186 Reactome R-HSA-3295583 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-3295583 RefSeq NP_061116 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_061116 SMART SM00248 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00248 SMR Q9H1D0 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9H1D0 STRING 9606.ENSP00000352358 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000352358&targetmode=cogs SUPFAM SSF48403 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48403 TCDB 1.A.4.2.11 http://www.tcdb.org/search/result.php?tc=1.A.4.2.11 TIGRFAMs TIGR00870 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00870 UCSC uc003wbx http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003wbx&org=rat UniGene Hs.302740 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.302740 UniProtKB TRPV6_HUMAN http://www.uniprot.org/uniprot/TRPV6_HUMAN UniProtKB-AC Q9H1D0 http://www.uniprot.org/uniprot/Q9H1D0 charge swissprot:TRPV6_HUMAN http://rest.g-language.org/emboss/charge/swissprot:TRPV6_HUMAN eggNOG ENOG4110DG4 http://eggnogapi.embl.de/nog_data/html/tree/ENOG4110DG4 eggNOG KOG3676 http://eggnogapi.embl.de/nog_data/html/tree/KOG3676 epestfind swissprot:TRPV6_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:TRPV6_HUMAN garnier swissprot:TRPV6_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:TRPV6_HUMAN helixturnhelix swissprot:TRPV6_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:TRPV6_HUMAN hmoment swissprot:TRPV6_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:TRPV6_HUMAN iep swissprot:TRPV6_HUMAN http://rest.g-language.org/emboss/iep/swissprot:TRPV6_HUMAN inforesidue swissprot:TRPV6_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:TRPV6_HUMAN neXtProt NX_Q9H1D0 http://www.nextprot.org/db/entry/NX_Q9H1D0 octanol swissprot:TRPV6_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:TRPV6_HUMAN pepcoil swissprot:TRPV6_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:TRPV6_HUMAN pepdigest swissprot:TRPV6_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:TRPV6_HUMAN pepinfo swissprot:TRPV6_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:TRPV6_HUMAN pepnet swissprot:TRPV6_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:TRPV6_HUMAN pepstats swissprot:TRPV6_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:TRPV6_HUMAN pepwheel swissprot:TRPV6_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:TRPV6_HUMAN pepwindow swissprot:TRPV6_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:TRPV6_HUMAN sigcleave swissprot:TRPV6_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:TRPV6_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS ACHG_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P07510-1; Sequence=Displayed; Name=2; IsoId=P07510-2; Sequence=VSP_055775; Note=No experimental confirmation available.; # BioGrid 107568 8 # CCDS CCDS33400 -. [P07510-1] # DISEASE ACHG_HUMAN Multiple pterygium syndrome, Escobar variant (EVMPS) [MIM 265000] Non-lethal form of arthrogryposis multiplex congenita. It is an autosomal recessive condition characterized by excessive webbing (pterygia), congenital contractures (arthrogryposis), and scoliosis. Variable other features include intrauterine death, congenital respiratory distress, short stature, faciocranial dysmorphism, ptosis, low-set ears, arachnodactyly and cryptorchism in males. Congenital contractures are common and may be caused by reduced fetal movements at sensitive times of development. Possible causes of decreased fetal mobility include space constraints such as oligohydramnion, drugs, metabolic conditions or neuromuscular disorders including myasthenia gravis. {ECO 0000269|PubMed 16826520, ECO 0000269|PubMed 16826531}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE ACHG_HUMAN Multiple pterygium syndrome, lethal type (LMPS) [MIM 253290] Multiple pterygia are found infrequently in children with arthrogryposis and in fetuses with fetal akinesia syndrome. In lethal multiple pterygium syndrome there is intrauterine growth retardation, multiple pterygia, and flexion contractures causing severe arthrogryposis and fetal akinesia. Subcutaneous edema can be severe, causing fetal hydrops with cystic hygroma and lung hypoplasia. Oligohydramnios and facial anomalies are frequent. {ECO 0000269|PubMed 16826520, ECO 0000269|PubMed 16826531}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DrugBank DB00674 Galantamine # Ensembl ENST00000389492 ENSP00000374143; ENSG00000196811. [P07510-2] # Ensembl ENST00000389494 ENSP00000374145; ENSG00000196811. [P07510-1] # FUNCTION ACHG_HUMAN After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0005892 acetylcholine-gated channel complex; IBA:GO_Central. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0045211 postsynaptic membrane; IEA:UniProtKB-SubCell. # GO_function GO:0004889 acetylcholine-activated cation-selective channel activity; IEA:InterPro. # GO_function GO:0015267 channel activity; TAS:ProtInc. # GO_function GO:0015276 ligand-gated ion channel activity; TAS:Reactome. # GO_function GO:0015464 acetylcholine receptor activity; TAS:ProtInc. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0006936 muscle contraction; TAS:ProtInc. # GO_process GO:0007165 signal transduction; TAS:ProtInc. # GO_process GO:0007271 synaptic transmission, cholinergic; IBA:GO_Central. # GO_process GO:0007274 neuromuscular synaptic transmission; IBA:GO_Central. # GO_process GO:0035094 response to nicotine; IBA:GO_Central. # GO_process GO:0098655 cation transmembrane transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.20.120.370 -; 2. # Gene3D 2.70.170.10 -; 1. # Genevisible P07510 HS # HGNC HGNC:1967 CHRNG # INTERACTION ACHG_HUMAN Q15323 KRT31; NbExp=3; IntAct=EBI-9008836, EBI-948001; P60409 KRTAP10-7; NbExp=3; IntAct=EBI-9008836, EBI-10172290; P60410 KRTAP10-8; NbExp=3; IntAct=EBI-9008836, EBI-10171774; P60411 KRTAP10-9; NbExp=3; IntAct=EBI-9008836, EBI-10172052; Q7Z3S9 NOTCH2NL; NbExp=3; IntAct=EBI-9008836, EBI-945833; # IntAct P07510 11 # InterPro IPR002394 Nicotinic_acetylcholine_rcpt # InterPro IPR006029 Neurotrans-gated_channel_TM # InterPro IPR006201 Neur_channel # InterPro IPR006202 Neur_chan_lig-bd # InterPro IPR018000 Neurotransmitter_ion_chnl_CS # InterPro IPR027361 Acetylcholine_rcpt_TM # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00986 [Developmental disorder] Multiple pterygium syndrome, Escobar variant (EVMPS) # KEGG_Pathway ko04080 Neuroactive ligand-receptor interaction # MIM 100730 gene # MIM 253290 phenotype # MIM 265000 phenotype # Organism ACHG_HUMAN Homo sapiens (Human) # Orphanet 2990 Autosomal recessive multiple pterygium syndrome # Orphanet 33108 Lethal multiple pterygium syndrome # PANTHER PTHR18945 PTHR18945; 2 # PIR A23261 A23261 # PRINTS PR00252 NRIONCHANNEL # PRINTS PR00254 NICOTINICR # PROSITE PS00236 NEUROTR_ION_CHANNEL # Pfam PF02931 Neur_chan_LBD # Pfam PF02932 Neur_chan_memb # Proteomes UP000005640 Chromosome 2 # Reactome R-HSA-629587 Highly sodium permeable acetylcholine nicotinic receptors # RecName ACHG_HUMAN Acetylcholine receptor subunit gamma # RefSeq NP_005190 NM_005199.4. [P07510-1] # SEQUENCE CAUTION Sequence=AAY24103.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAA25861.1; Type=Erroneous gene model prediction; Evidence={ECO 0000305}; # SIMILARITY Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Gamma/CHRNG sub-subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION ACHG_HUMAN Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. # SUBUNIT ACHG_HUMAN Pentamer of two alpha chains, and one each of the beta, delta, and gamma (in immature muscle) or epsilon (in mature muscle) chains. # SUPFAM SSF63712 SSF63712 # SUPFAM SSF90112 SSF90112 # TCDB 1.A.9.1 the neurotransmitter receptor, cys loop, ligand-gated ion channel (lic) family # UCSC uc002vsx human. [P07510-1] # eggNOG ENOG410XQGR LUCA # eggNOG KOG3645 Eukaryota BLAST swissprot:ACHG_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ACHG_HUMAN BioCyc ZFISH:G66-31310-MONOMER http://biocyc.org/getid?id=ZFISH:G66-31310-MONOMER COXPRESdb 1146 http://coxpresdb.jp/data/gene/1146.shtml CleanEx HS_CHRNG http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CHRNG DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1086/506256 http://dx.doi.org/10.1086/506256 DOI 10.1086/506257 http://dx.doi.org/10.1086/506257 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1432-1033.1985.tb08614.x http://dx.doi.org/10.1111/j.1432-1033.1985.tb08614.x DOI 10.1111/j.1432-1033.1993.tb18027.x http://dx.doi.org/10.1111/j.1432-1033.1993.tb18027.x DrugBank DB00674 http://www.drugbank.ca/drugs/DB00674 EMBL AC092165 http://www.ebi.ac.uk/ena/data/view/AC092165 EMBL AK125362 http://www.ebi.ac.uk/ena/data/view/AK125362 EMBL BC111802 http://www.ebi.ac.uk/ena/data/view/BC111802 EMBL X01715 http://www.ebi.ac.uk/ena/data/view/X01715 EMBL X01716 http://www.ebi.ac.uk/ena/data/view/X01716 EMBL X01717 http://www.ebi.ac.uk/ena/data/view/X01717 EMBL X01718 http://www.ebi.ac.uk/ena/data/view/X01718 EMBL X01719 http://www.ebi.ac.uk/ena/data/view/X01719 EMBL X01720 http://www.ebi.ac.uk/ena/data/view/X01720 EMBL X01721 http://www.ebi.ac.uk/ena/data/view/X01721 EMBL X04759 http://www.ebi.ac.uk/ena/data/view/X04759 Ensembl ENST00000389492 http://www.ensembl.org/id/ENST00000389492 Ensembl ENST00000389494 http://www.ensembl.org/id/ENST00000389494 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0005892 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005892 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0045211 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045211 GO_function GO:0004889 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004889 GO_function GO:0015267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015267 GO_function GO:0015276 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015276 GO_function GO:0015464 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015464 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0006936 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006936 GO_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GO_process GO:0007271 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007271 GO_process GO:0007274 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007274 GO_process GO:0035094 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035094 GO_process GO:0098655 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0098655 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.20.120.370 http://www.cathdb.info/version/latest/superfamily/1.20.120.370 Gene3D 2.70.170.10 http://www.cathdb.info/version/latest/superfamily/2.70.170.10 GeneCards CHRNG http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CHRNG GeneID 1146 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=1146 GeneTree ENSGT00760000118930 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118930 HGNC HGNC:1967 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:1967 HOGENOM HOG000006757 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000006757&db=HOGENOM6 HOVERGEN HBG003756 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG003756&db=HOVERGEN InParanoid P07510 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P07510 IntAct P07510 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P07510* InterPro IPR002394 http://www.ebi.ac.uk/interpro/entry/IPR002394 InterPro IPR006029 http://www.ebi.ac.uk/interpro/entry/IPR006029 InterPro IPR006201 http://www.ebi.ac.uk/interpro/entry/IPR006201 InterPro IPR006202 http://www.ebi.ac.uk/interpro/entry/IPR006202 InterPro IPR018000 http://www.ebi.ac.uk/interpro/entry/IPR018000 InterPro IPR027361 http://www.ebi.ac.uk/interpro/entry/IPR027361 Jabion 1146 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=1146 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00986 http://www.genome.jp/dbget-bin/www_bget?H00986 KEGG_Gene hsa:1146 http://www.genome.jp/dbget-bin/www_bget?hsa:1146 KEGG_Orthology KO:K04818 http://www.genome.jp/dbget-bin/www_bget?KO:K04818 KEGG_Pathway ko04080 http://www.genome.jp/kegg-bin/show_pathway?ko04080 MIM 100730 http://www.ncbi.nlm.nih.gov/omim/100730 MIM 253290 http://www.ncbi.nlm.nih.gov/omim/253290 MIM 265000 http://www.ncbi.nlm.nih.gov/omim/265000 OMA EEWFLVG http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=EEWFLVG Orphanet 2990 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=2990 Orphanet 33108 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=33108 OrthoDB EOG091G0R20 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0R20 PANTHER PTHR18945 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR18945 PRINTS PR00252 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00252 PRINTS PR00254 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00254 PROSITE PS00236 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00236 PSORT swissprot:ACHG_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ACHG_HUMAN PSORT-B swissprot:ACHG_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ACHG_HUMAN PSORT2 swissprot:ACHG_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ACHG_HUMAN Pfam PF02931 http://pfam.xfam.org/family/PF02931 Pfam PF02932 http://pfam.xfam.org/family/PF02932 PharmGKB PA26499 http://www.pharmgkb.org/do/serve?objId=PA26499&objCls=Gene Phobius swissprot:ACHG_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ACHG_HUMAN PhylomeDB P07510 http://phylomedb.org/?seqid=P07510 ProteinModelPortal P07510 http://www.proteinmodelportal.org/query/uniprot/P07510 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 PubMed 16826520 http://www.ncbi.nlm.nih.gov/pubmed/16826520 PubMed 16826531 http://www.ncbi.nlm.nih.gov/pubmed/16826531 PubMed 3967651 http://www.ncbi.nlm.nih.gov/pubmed/3967651 PubMed 7688301 http://www.ncbi.nlm.nih.gov/pubmed/7688301 Reactome R-HSA-629587 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-629587 RefSeq NP_005190 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_005190 STRING 9606.ENSP00000374145 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000374145&targetmode=cogs SUPFAM SSF63712 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF63712 SUPFAM SSF90112 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF90112 TCDB 1.A.9.1 http://www.tcdb.org/search/result.php?tc=1.A.9.1 UCSC uc002vsx http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002vsx&org=rat UniGene Hs.248101 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.248101 UniProtKB ACHG_HUMAN http://www.uniprot.org/uniprot/ACHG_HUMAN UniProtKB-AC P07510 http://www.uniprot.org/uniprot/P07510 charge swissprot:ACHG_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ACHG_HUMAN eggNOG ENOG410XQGR http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XQGR eggNOG KOG3645 http://eggnogapi.embl.de/nog_data/html/tree/KOG3645 epestfind swissprot:ACHG_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ACHG_HUMAN garnier swissprot:ACHG_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ACHG_HUMAN helixturnhelix swissprot:ACHG_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ACHG_HUMAN hmoment swissprot:ACHG_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ACHG_HUMAN iep swissprot:ACHG_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ACHG_HUMAN inforesidue swissprot:ACHG_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ACHG_HUMAN neXtProt NX_P07510 http://www.nextprot.org/db/entry/NX_P07510 octanol swissprot:ACHG_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ACHG_HUMAN pepcoil swissprot:ACHG_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ACHG_HUMAN pepdigest swissprot:ACHG_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ACHG_HUMAN pepinfo swissprot:ACHG_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ACHG_HUMAN pepnet swissprot:ACHG_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ACHG_HUMAN pepstats swissprot:ACHG_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ACHG_HUMAN pepwheel swissprot:ACHG_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ACHG_HUMAN pepwindow swissprot:ACHG_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ACHG_HUMAN sigcleave swissprot:ACHG_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ACHG_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS CLCN7_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P51798-1; Sequence=Displayed; Name=2; IsoId=P51798-2; Sequence=VSP_045698; Note=No experimental confirmation available.; # AltName CLCN7_HUMAN Chloride channel 7 alpha subunit # AltName CLCN7_HUMAN Chloride channel protein 7 # BioGrid 107600 34 # CCDS CCDS32361 -. [P51798-1] # CCDS CCDS45378 -. [P51798-2] # ChiTaRS CLCN7 human # DISEASE CLCN7_HUMAN Osteopetrosis, autosomal dominant 2 (OPTA2) [MIM 166600] A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. OPTA2 is the most common form of osteopetrosis, occurring in adolescence or adulthood. It is characterized by sclerosis, predominantly involving the spine, the pelvis and the skull base. {ECO 0000269|PubMed 11741829, ECO 0000269|PubMed 14584882, ECO 0000269|PubMed 19288050, ECO 0000269|PubMed 19953639, ECO 0000269|PubMed 26395888}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE CLCN7_HUMAN Osteopetrosis, autosomal recessive 2 (OPTB2) [MIM 259710] A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves. OPTB2 is characterized by paucity of osteoclasts, suggesting a molecular defect in osteoclast development. {ECO 0000269|PubMed 26395888}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE CLCN7_HUMAN Osteopetrosis, autosomal recessive 4 (OPTB4) [MIM 611490] A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves. {ECO 0000269|PubMed 11207362, ECO 0000269|PubMed 11741829, ECO 0000269|PubMed 14584882, ECO 0000269|PubMed 17033731, ECO 0000269|PubMed 19953639, ECO 0000269|PubMed 26477479}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000382745 ENSP00000372193; ENSG00000103249. [P51798-1] # Ensembl ENST00000448525 ENSP00000410907; ENSG00000103249. [P51798-2] # ExpressionAtlas P51798 baseline and differential # FUNCTION CLCN7_HUMAN Slowly voltage-gated channel mediating the exchange of chloride ions against protons. Functions as antiporter and contributes to the acidification of the lysosome lumen. {ECO 0000269|PubMed 18449189, ECO 0000269|PubMed 21527911}. # GO_component GO:0005765 lysosomal membrane; IDA:UniProtKB. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0031410 cytoplasmic vesicle; IEA:Ensembl. # GO_function GO:0005247 voltage-gated chloride channel activity; IBA:GO_Central. # GO_function GO:0005254 chloride channel activity; TAS:ProtInc. # GO_function GO:0005524 ATP binding; IEA:UniProtKB-KW. # GO_function GO:0015297 antiporter activity; IEA:UniProtKB-KW. # GO_function GO:0031404 chloride ion binding; IBA:GO_Central. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0009268 response to pH; IEA:Ensembl. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0031410 cytoplasmic vesicle # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.10.3080.10 -; 2. # Genevisible P51798 HS # HGNC HGNC:2025 CLCN7 # IntAct P51798 29 # InterPro IPR000644 CBS_dom # InterPro IPR001807 Cl-channel_volt-gated # InterPro IPR002249 Cl_channel-7 # InterPro IPR014743 Cl-channel_core # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00436 [Skeletal dysplasia] Osteopetrosis, osteoclast poor # MIM 166600 phenotype # MIM 259710 phenotype # MIM 602727 gene # MIM 611490 phenotype # MISCELLANEOUS The CLC channel family contains both chloride channels and proton-coupled anion transporters that exchange chloride or another anion for protons. The presence of conserved gating glutamate residues is typical for family members that function as antiporters (By similarity). {ECO 0000250}. # Organism CLCN7_HUMAN Homo sapiens (Human) # Orphanet 210110 Intermediate osteopetrosis # Orphanet 53 Albers-Schonberg osteopetrosis # Orphanet 667 Autosomal recessive malignant osteopetrosis # PIR S68427 S68427 # PRINTS PR00762 CLCHANNEL # PRINTS PR01118 CLCHANNEL7 # PROSITE PS51371 CBS; 2 # Pfam PF00571 CBS; 2 # Pfam PF00654 Voltage_CLC # Proteomes UP000005640 Chromosome 16 # Reactome R-HSA-2672351 Stimuli-sensing channels # RecName CLCN7_HUMAN H(+)/Cl(-) exchange transporter 7 # RefSeq NP_001107803 NM_001114331.2. [P51798-2] # RefSeq NP_001278 NM_001287.5. [P51798-1] # SIMILARITY Belongs to the chloride channel (TC 2.A.49) family. ClC-7/CLCN7 subfamily. {ECO 0000305}. # SIMILARITY Contains 2 CBS domains. {ECO:0000255|PROSITE- ProRule PRU00703}. # SMART SM00116 CBS; 2 # SUBCELLULAR LOCATION CLCN7_HUMAN Lysosome membrane {ECO 0000269|PubMed 17897319, ECO 0000269|PubMed 18449189, ECO 0000269|PubMed 21527911}; Multi-pass membrane protein {ECO 0000269|PubMed 17897319, ECO 0000269|PubMed 18449189, ECO 0000269|PubMed 21527911}. # SUBUNIT Chloride channel 7 are heteromers of alpha (CLCN7) and beta (OSTM1) subunits. {ECO:0000269|PubMed 21527911}. # SUPFAM SSF81340 SSF81340; 2 # TCDB 2.A.49.3 the chloride carrier/channel (clc) family # TISSUE SPECIFICITY CLCN7_HUMAN Brain, testis, muscle and kidney. # UCSC uc002clv human. [P51798-1] # eggNOG COG0038 LUCA # eggNOG KOG0474 Eukaryota BLAST swissprot:CLCN7_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CLCN7_HUMAN BioCyc ZFISH:ENSG00000103249-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000103249-MONOMER COXPRESdb 1186 http://coxpresdb.jp/data/gene/1186.shtml CleanEx HS_CLCN7 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CLCN7 DOI 10.1002/humu.21167 http://dx.doi.org/10.1002/humu.21167 DOI 10.1007/s00198-015-3320-x http://dx.doi.org/10.1007/s00198-015-3320-x DOI 10.1007/s00774-009-0051-0 http://dx.doi.org/10.1007/s00774-009-0051-0 DOI 10.1007/s10038-006-0075-4 http://dx.doi.org/10.1007/s10038-006-0075-4 DOI 10.1016/0014-5793(95)01298-2 http://dx.doi.org/10.1016/0014-5793(95)01298-2 DOI 10.1016/S0092-8674(01)00206-9 http://dx.doi.org/10.1016/S0092-8674(01)00206-9 DOI 10.1016/S0167-4781(98)00014-1 http://dx.doi.org/10.1016/S0167-4781(98)00014-1 DOI 10.1016/j.cell.2006.09.026 http://dx.doi.org/10.1016/j.cell.2006.09.026 DOI 10.1016/j.gene.2015.10.021 http://dx.doi.org/10.1016/j.gene.2015.10.021 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/emboj.2011.137 http://dx.doi.org/10.1038/emboj.2011.137 DOI 10.1038/nature03187 http://dx.doi.org/10.1038/nature03187 DOI 10.1038/nature06907 http://dx.doi.org/10.1038/nature06907 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1093/hmg/10.25.2861 http://dx.doi.org/10.1093/hmg/10.25.2861 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1600-0854.2007.00643.x http://dx.doi.org/10.1111/j.1600-0854.2007.00643.x DOI 10.1126/scisignal.2000007 http://dx.doi.org/10.1126/scisignal.2000007 DOI 10.1126/scisignal.2001570 http://dx.doi.org/10.1126/scisignal.2001570 DOI 10.1359/jbmr.2003.18.10.1740 http://dx.doi.org/10.1359/jbmr.2003.18.10.1740 EMBL AF224741 http://www.ebi.ac.uk/ena/data/view/AF224741 EMBL AJ001910 http://www.ebi.ac.uk/ena/data/view/AJ001910 EMBL AK056551 http://www.ebi.ac.uk/ena/data/view/AK056551 EMBL AK291404 http://www.ebi.ac.uk/ena/data/view/AK291404 EMBL AK292136 http://www.ebi.ac.uk/ena/data/view/AK292136 EMBL AL031600 http://www.ebi.ac.uk/ena/data/view/AL031600 EMBL AL031705 http://www.ebi.ac.uk/ena/data/view/AL031705 EMBL BC012737 http://www.ebi.ac.uk/ena/data/view/BC012737 EMBL U88844 http://www.ebi.ac.uk/ena/data/view/U88844 EMBL Z67743 http://www.ebi.ac.uk/ena/data/view/Z67743 Ensembl ENST00000382745 http://www.ensembl.org/id/ENST00000382745 Ensembl ENST00000448525 http://www.ensembl.org/id/ENST00000448525 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005765 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005765 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0031410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410 GO_function GO:0005247 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005247 GO_function GO:0005254 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005254 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0015297 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015297 GO_function GO:0031404 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031404 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0009268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009268 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0031410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.10.3080.10 http://www.cathdb.info/version/latest/superfamily/1.10.3080.10 GeneCards CLCN7 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CLCN7 GeneID 1186 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=1186 GeneTree ENSGT00760000119109 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119109 HGNC HGNC:2025 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:2025 HOGENOM HOG000231081 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231081&db=HOGENOM6 HOVERGEN HBG050985 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050985&db=HOVERGEN HPA HPA043019 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA043019 HPA HPA043586 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA043586 InParanoid P51798 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P51798 IntAct P51798 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P51798* InterPro IPR000644 http://www.ebi.ac.uk/interpro/entry/IPR000644 InterPro IPR001807 http://www.ebi.ac.uk/interpro/entry/IPR001807 InterPro IPR002249 http://www.ebi.ac.uk/interpro/entry/IPR002249 InterPro IPR014743 http://www.ebi.ac.uk/interpro/entry/IPR014743 Jabion 1186 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=1186 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00436 http://www.genome.jp/dbget-bin/www_bget?H00436 KEGG_Gene hsa:1186 http://www.genome.jp/dbget-bin/www_bget?hsa:1186 KEGG_Orthology KO:K05016 http://www.genome.jp/dbget-bin/www_bget?KO:K05016 MIM 166600 http://www.ncbi.nlm.nih.gov/omim/166600 MIM 259710 http://www.ncbi.nlm.nih.gov/omim/259710 MIM 602727 http://www.ncbi.nlm.nih.gov/omim/602727 MIM 611490 http://www.ncbi.nlm.nih.gov/omim/611490 MINT MINT-3019199 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-3019199 Orphanet 210110 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=210110 Orphanet 53 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=53 Orphanet 667 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=667 PRINTS PR00762 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00762 PRINTS PR01118 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01118 PROSITE PS51371 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51371 PSORT swissprot:CLCN7_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CLCN7_HUMAN PSORT-B swissprot:CLCN7_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CLCN7_HUMAN PSORT2 swissprot:CLCN7_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CLCN7_HUMAN Pfam PF00571 http://pfam.xfam.org/family/PF00571 Pfam PF00654 http://pfam.xfam.org/family/PF00654 PharmGKB PA26552 http://www.pharmgkb.org/do/serve?objId=PA26552&objCls=Gene Phobius swissprot:CLCN7_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CLCN7_HUMAN PhylomeDB P51798 http://phylomedb.org/?seqid=P51798 ProteinModelPortal P51798 http://www.proteinmodelportal.org/query/uniprot/P51798 PubMed 11207362 http://www.ncbi.nlm.nih.gov/pubmed/11207362 PubMed 11741829 http://www.ncbi.nlm.nih.gov/pubmed/11741829 PubMed 14584882 http://www.ncbi.nlm.nih.gov/pubmed/14584882 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15616553 http://www.ncbi.nlm.nih.gov/pubmed/15616553 PubMed 17033731 http://www.ncbi.nlm.nih.gov/pubmed/17033731 PubMed 17081983 http://www.ncbi.nlm.nih.gov/pubmed/17081983 PubMed 17897319 http://www.ncbi.nlm.nih.gov/pubmed/17897319 PubMed 18449189 http://www.ncbi.nlm.nih.gov/pubmed/18449189 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 19288050 http://www.ncbi.nlm.nih.gov/pubmed/19288050 PubMed 19690332 http://www.ncbi.nlm.nih.gov/pubmed/19690332 PubMed 19953639 http://www.ncbi.nlm.nih.gov/pubmed/19953639 PubMed 21406692 http://www.ncbi.nlm.nih.gov/pubmed/21406692 PubMed 21527911 http://www.ncbi.nlm.nih.gov/pubmed/21527911 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 26395888 http://www.ncbi.nlm.nih.gov/pubmed/26395888 PubMed 26477479 http://www.ncbi.nlm.nih.gov/pubmed/26477479 PubMed 8543009 http://www.ncbi.nlm.nih.gov/pubmed/8543009 PubMed 9565675 http://www.ncbi.nlm.nih.gov/pubmed/9565675 Reactome R-HSA-2672351 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2672351 RefSeq NP_001107803 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001107803 RefSeq NP_001278 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001278 SMART SM00116 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00116 SMR P51798 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P51798 STRING 9606.ENSP00000372193 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000372193&targetmode=cogs SUPFAM SSF81340 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81340 TCDB 2.A.49.3 http://www.tcdb.org/search/result.php?tc=2.A.49.3 UCSC uc002clv http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002clv&org=rat UniGene Hs.459649 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.459649 UniProtKB CLCN7_HUMAN http://www.uniprot.org/uniprot/CLCN7_HUMAN UniProtKB-AC P51798 http://www.uniprot.org/uniprot/P51798 charge swissprot:CLCN7_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CLCN7_HUMAN eggNOG COG0038 http://eggnogapi.embl.de/nog_data/html/tree/COG0038 eggNOG KOG0474 http://eggnogapi.embl.de/nog_data/html/tree/KOG0474 epestfind swissprot:CLCN7_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CLCN7_HUMAN garnier swissprot:CLCN7_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CLCN7_HUMAN helixturnhelix swissprot:CLCN7_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CLCN7_HUMAN hmoment swissprot:CLCN7_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CLCN7_HUMAN iep swissprot:CLCN7_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CLCN7_HUMAN inforesidue swissprot:CLCN7_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CLCN7_HUMAN neXtProt NX_P51798 http://www.nextprot.org/db/entry/NX_P51798 octanol swissprot:CLCN7_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CLCN7_HUMAN pepcoil swissprot:CLCN7_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CLCN7_HUMAN pepdigest swissprot:CLCN7_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CLCN7_HUMAN pepinfo swissprot:CLCN7_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CLCN7_HUMAN pepnet swissprot:CLCN7_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CLCN7_HUMAN pepstats swissprot:CLCN7_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CLCN7_HUMAN pepwheel swissprot:CLCN7_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CLCN7_HUMAN pepwindow swissprot:CLCN7_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CLCN7_HUMAN sigcleave swissprot:CLCN7_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CLCN7_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS VATG2_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=O95670-1; Sequence=Displayed; Name=2; IsoId=O95670-2; Sequence=VSP_045909; Note=No experimental confirmation available.; Name=3; IsoId=O95670-3; Sequence=VSP_047411; Note=No experimental confirmation available.; # AltName VATG2_HUMAN V-ATPase 13 kDa subunit 2 # AltName VATG2_HUMAN Vacuolar proton pump subunit G 2 # BioGrid 107017 5 # CCDS CCDS4698 -. [O95670-1] # CCDS CCDS4699 -. [O95670-3] # CCDS CCDS56413 -. [O95670-2] # Ensembl ENST00000303892 ENSP00000302194; ENSG00000213760. [O95670-1] # Ensembl ENST00000376151 ENSP00000365321; ENSG00000213760. [O95670-2] # Ensembl ENST00000383503 ENSP00000372995; ENSG00000206445. [O95670-1] # Ensembl ENST00000421596 ENSP00000406575; ENSG00000234668. [O95670-2] # Ensembl ENST00000434217 ENSP00000406668; ENSG00000226850. [O95670-2] # Ensembl ENST00000441959 ENSP00000395436; ENSG00000227587. [O95670-1] # Ensembl ENST00000443657 ENSP00000416031; ENSG00000227587. [O95670-2] # Ensembl ENST00000444088 ENSP00000406389; ENSG00000234920. [O95670-1] # Ensembl ENST00000447174 ENSP00000403158; ENSG00000230900. [O95670-2] # Ensembl ENST00000448779 ENSP00000409104; ENSG00000234920. [O95670-2] # Ensembl ENST00000449748 ENSP00000406372; ENSG00000226850. [O95670-1] # Ensembl ENST00000452453 ENSP00000402430; ENSG00000206445. [O95670-2] # Ensembl ENST00000454370 ENSP00000413222; ENSG00000234668. [O95670-1] # Ensembl ENST00000454889 ENSP00000408670; ENSG00000230900. [O95670-1] # Ensembl ENST00000483251 ENSP00000419698; ENSG00000213760. [O95670-3] # ExpressionAtlas O95670 baseline and differential # FUNCTION VATG2_HUMAN Catalytic subunit of the peripheral V1 complex of vacuolar ATPase (V-ATPase). V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. # GO_component GO:0005829 cytosol; TAS:Reactome. # GO_component GO:0016471 vacuolar proton-transporting V-type ATPase complex; IEA:InterPro. # GO_component GO:0042470 melanosome; IEA:UniProtKB-SubCell. # GO_function GO:0016820 hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances; IEA:InterPro. # GO_process GO:0008286 insulin receptor signaling pathway; TAS:Reactome. # GO_process GO:0016241 regulation of macroautophagy; NAS:ParkinsonsUK-UCL. # GO_process GO:0033572 transferrin transport; TAS:Reactome. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0090383 phagosome acidification; TAS:Reactome. # GO_process GO:1902600 hydrogen ion transmembrane transport; IEA:GOC. # GOslim_component GO:0005829 cytosol # GOslim_component GO:0031410 cytoplasmic vesicle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Genevisible O95670 HS # HGNC HGNC:862 ATP6V1G2 # IntAct O95670 3 # InterPro IPR005124 V-ATPase_G # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Brite ko01000 Enzymes # KEGG_Pathway ko00190 Oxidative phosphorylation # KEGG_Pathway ko04145 Phagosome # KEGG_Pathway ko04721 Synaptic vesicle cycle # KEGG_Pathway ko04966 Collecting duct acid secretion # KEGG_Pathway ko05110 Vibrio cholerae infection # KEGG_Pathway ko05120 Epithelial cell signaling in Helicobacter pylori infection # KEGG_Pathway ko05323 Rheumatoid arthritis # MIM 606853 gene # Organism VATG2_HUMAN Homo sapiens (Human) # PANTHER PTHR12713 PTHR12713 # Proteomes UP000005640 Chromosome 6 # Reactome R-HSA-1222556 ROS, RNS production in response to bacteria # Reactome R-HSA-77387 Insulin receptor recycling # Reactome R-HSA-917977 Transferrin endocytosis and recycling # Reactome R-HSA-983712 Ion channel transport # RecName VATG2_HUMAN V-type proton ATPase subunit G 2 # RefSeq NP_001191007 NM_001204078.1. [O95670-2] # RefSeq NP_569730 NM_130463.3. [O95670-1] # RefSeq NP_612139 NM_138282.2. [O95670-3] # SIMILARITY Belongs to the V-ATPase G subunit family. {ECO 0000305}. # SUBCELLULAR LOCATION VATG2_HUMAN Melanosome {ECO 0000269|PubMed 17081065}. Note=Highly enriched in late-stage melanosomes. # SUBUNIT V-ATPase is a heteromultimeric enzyme composed of a peripheral catalytic V1 complex (components A to H) attached to an integral membrane V0 proton pore complex (components: a, c, c', c'' and d). {ECO 0000250}. # TIGRFAMs TIGR01147 V_ATP_synt_G # TISSUE SPECIFICITY Brain. {ECO:0000269|PubMed 12384298}. # UCSC uc003ntz human. [O95670-1] # eggNOG ENOG4111XX0 LUCA # eggNOG KOG1772 Eukaryota BLAST swissprot:VATG2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:VATG2_HUMAN BioCyc MetaCyc:HS10685-MONOMER http://biocyc.org/getid?id=MetaCyc:HS10685-MONOMER BioCyc ZFISH:HS10685-MONOMER http://biocyc.org/getid?id=ZFISH:HS10685-MONOMER COXPRESdb 534 http://coxpresdb.jp/data/gene/534.shtml CleanEx HS_ATP6V1G2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ATP6V1G2 DOI 10.1016/S0378-1119(02)00884-3 http://dx.doi.org/10.1016/S0378-1119(02)00884-3 DOI 10.1021/pr060363j http://dx.doi.org/10.1021/pr060363j DOI 10.1038/nature02055 http://dx.doi.org/10.1038/nature02055 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1534/genetics.106.057034 http://dx.doi.org/10.1534/genetics.106.057034 EMBL AA401769 http://www.ebi.ac.uk/ena/data/view/AA401769 EMBL AB063177 http://www.ebi.ac.uk/ena/data/view/AB063177 EMBL AB088115 http://www.ebi.ac.uk/ena/data/view/AB088115 EMBL AB097672 http://www.ebi.ac.uk/ena/data/view/AB097672 EMBL AB102692 http://www.ebi.ac.uk/ena/data/view/AB102692 EMBL AB103621 http://www.ebi.ac.uk/ena/data/view/AB103621 EMBL AB202112 http://www.ebi.ac.uk/ena/data/view/AB202112 EMBL AL662801 http://www.ebi.ac.uk/ena/data/view/AL662801 EMBL AL662847 http://www.ebi.ac.uk/ena/data/view/AL662847 EMBL BA000025 http://www.ebi.ac.uk/ena/data/view/BA000025 EMBL BC047791 http://www.ebi.ac.uk/ena/data/view/BC047791 EMBL BC119726 http://www.ebi.ac.uk/ena/data/view/BC119726 EMBL BC119727 http://www.ebi.ac.uk/ena/data/view/BC119727 EMBL BX001040 http://www.ebi.ac.uk/ena/data/view/BX001040 EMBL BX001040 http://www.ebi.ac.uk/ena/data/view/BX001040 EMBL BX248516 http://www.ebi.ac.uk/ena/data/view/BX248516 EMBL BX248516 http://www.ebi.ac.uk/ena/data/view/BX248516 EMBL BX927320 http://www.ebi.ac.uk/ena/data/view/BX927320 EMBL BX927320 http://www.ebi.ac.uk/ena/data/view/BX927320 EMBL CH471081 http://www.ebi.ac.uk/ena/data/view/CH471081 EMBL CH471081 http://www.ebi.ac.uk/ena/data/view/CH471081 EMBL CR753820 http://www.ebi.ac.uk/ena/data/view/CR753820 EMBL CR753864 http://www.ebi.ac.uk/ena/data/view/CR753864 EMBL CR753864 http://www.ebi.ac.uk/ena/data/view/CR753864 EMBL CR753892 http://www.ebi.ac.uk/ena/data/view/CR753892 EMBL CR753892 http://www.ebi.ac.uk/ena/data/view/CR753892 EMBL CR942185 http://www.ebi.ac.uk/ena/data/view/CR942185 EMBL Y14768 http://www.ebi.ac.uk/ena/data/view/Y14768 Ensembl ENST00000303892 http://www.ensembl.org/id/ENST00000303892 Ensembl ENST00000376151 http://www.ensembl.org/id/ENST00000376151 Ensembl ENST00000383503 http://www.ensembl.org/id/ENST00000383503 Ensembl ENST00000421596 http://www.ensembl.org/id/ENST00000421596 Ensembl ENST00000434217 http://www.ensembl.org/id/ENST00000434217 Ensembl ENST00000441959 http://www.ensembl.org/id/ENST00000441959 Ensembl ENST00000443657 http://www.ensembl.org/id/ENST00000443657 Ensembl ENST00000444088 http://www.ensembl.org/id/ENST00000444088 Ensembl ENST00000447174 http://www.ensembl.org/id/ENST00000447174 Ensembl ENST00000448779 http://www.ensembl.org/id/ENST00000448779 Ensembl ENST00000449748 http://www.ensembl.org/id/ENST00000449748 Ensembl ENST00000452453 http://www.ensembl.org/id/ENST00000452453 Ensembl ENST00000454370 http://www.ensembl.org/id/ENST00000454370 Ensembl ENST00000454889 http://www.ensembl.org/id/ENST00000454889 Ensembl ENST00000483251 http://www.ensembl.org/id/ENST00000483251 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0016471 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016471 GO_component GO:0042470 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042470 GO_function GO:0016820 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016820 GO_process GO:0008286 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008286 GO_process GO:0016241 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016241 GO_process GO:0033572 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033572 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0090383 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090383 GO_process GO:1902600 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902600 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0031410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards ATP6V1G2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ATP6V1G2 GeneID 534 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=534 GeneTree ENSGT00390000011172 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000011172 HGNC HGNC:862 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:862 HOGENOM HOG000186416 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000186416&db=HOGENOM6 HOVERGEN HBG057827 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG057827&db=HOVERGEN HPA CAB004616 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB004616 InParanoid O95670 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O95670 IntAct O95670 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O95670* InterPro IPR005124 http://www.ebi.ac.uk/interpro/entry/IPR005124 Jabion 534 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=534 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00002 http://www.genome.jp/dbget-bin/www_bget?ko00002 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Gene hsa:534 http://www.genome.jp/dbget-bin/www_bget?hsa:534 KEGG_Orthology KO:K02152 http://www.genome.jp/dbget-bin/www_bget?KO:K02152 KEGG_Pathway ko00190 http://www.genome.jp/kegg-bin/show_pathway?ko00190 KEGG_Pathway ko04145 http://www.genome.jp/kegg-bin/show_pathway?ko04145 KEGG_Pathway ko04721 http://www.genome.jp/kegg-bin/show_pathway?ko04721 KEGG_Pathway ko04966 http://www.genome.jp/kegg-bin/show_pathway?ko04966 KEGG_Pathway ko05110 http://www.genome.jp/kegg-bin/show_pathway?ko05110 KEGG_Pathway ko05120 http://www.genome.jp/kegg-bin/show_pathway?ko05120 KEGG_Pathway ko05323 http://www.genome.jp/kegg-bin/show_pathway?ko05323 MIM 606853 http://www.ncbi.nlm.nih.gov/omim/606853 MINT MINT-1035852 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1035852 OMA HPNYRIT http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=HPNYRIT OrthoDB EOG091G0XIZ http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0XIZ PANTHER PTHR12713 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12713 PSORT swissprot:VATG2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:VATG2_HUMAN PSORT-B swissprot:VATG2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:VATG2_HUMAN PSORT2 swissprot:VATG2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:VATG2_HUMAN PharmGKB PA25164 http://www.pharmgkb.org/do/serve?objId=PA25164&objCls=Gene Phobius swissprot:VATG2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:VATG2_HUMAN PhylomeDB O95670 http://phylomedb.org/?seqid=O95670 ProteinModelPortal O95670 http://www.proteinmodelportal.org/query/uniprot/O95670 PubMed 10202016 http://www.ncbi.nlm.nih.gov/pubmed/10202016 PubMed 12384298 http://www.ncbi.nlm.nih.gov/pubmed/12384298 PubMed 14574404 http://www.ncbi.nlm.nih.gov/pubmed/14574404 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16702430 http://www.ncbi.nlm.nih.gov/pubmed/16702430 PubMed 17081065 http://www.ncbi.nlm.nih.gov/pubmed/17081065 Reactome R-HSA-1222556 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1222556 Reactome R-HSA-77387 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-77387 Reactome R-HSA-917977 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-917977 Reactome R-HSA-983712 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-983712 RefSeq NP_001191007 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001191007 RefSeq NP_569730 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_569730 RefSeq NP_612139 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_612139 SMR O95670 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=O95670 STRING 9606.ENSP00000302194 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000302194&targetmode=cogs TIGRFAMs TIGR01147 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01147 UCSC uc003ntz http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003ntz&org=rat UniGene Hs.249227 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.249227 UniProtKB VATG2_HUMAN http://www.uniprot.org/uniprot/VATG2_HUMAN UniProtKB-AC O95670 http://www.uniprot.org/uniprot/O95670 charge swissprot:VATG2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:VATG2_HUMAN eggNOG ENOG4111XX0 http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111XX0 eggNOG KOG1772 http://eggnogapi.embl.de/nog_data/html/tree/KOG1772 epestfind swissprot:VATG2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:VATG2_HUMAN garnier swissprot:VATG2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:VATG2_HUMAN helixturnhelix swissprot:VATG2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:VATG2_HUMAN hmoment swissprot:VATG2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:VATG2_HUMAN iep swissprot:VATG2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:VATG2_HUMAN inforesidue swissprot:VATG2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:VATG2_HUMAN neXtProt NX_O95670 http://www.nextprot.org/db/entry/NX_O95670 octanol swissprot:VATG2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:VATG2_HUMAN pepcoil swissprot:VATG2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:VATG2_HUMAN pepdigest swissprot:VATG2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:VATG2_HUMAN pepinfo swissprot:VATG2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:VATG2_HUMAN pepnet swissprot:VATG2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:VATG2_HUMAN pepstats swissprot:VATG2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:VATG2_HUMAN pepwheel swissprot:VATG2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:VATG2_HUMAN pepwindow swissprot:VATG2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:VATG2_HUMAN sigcleave swissprot:VATG2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:VATG2_HUMAN ## Database ID URL or Descriptions # AltName CCG5_HUMAN Neuronal voltage-gated calcium channel gamma-5 subunit # AltName CCG5_HUMAN Transmembrane AMPAR regulatory protein gamma-5 # BioGrid 117993 39 # Ensembl ENST00000307139 ENSP00000303092; ENSG00000075429 # Ensembl ENST00000533854 ENSP00000436836; ENSG00000075429 # FUNCTION CCG5_HUMAN Regulates the gating properties of AMPA-selective glutamate receptors (AMPARs). Modulates their gating properties by accelerating their rates of activation, deactivation and desensitization. Displays subunit-specific AMPA receptor regulation. Shows specificity for GRIA1, GRIA4 and the long isoform of GRIA2. Thought to stabilize the calcium channel in an inactivated (closed) state (By similarity). {ECO 0000250}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0014069 postsynaptic density; ISS:UniProtKB. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0032281 AMPA glutamate receptor complex; ISS:UniProtKB. # GO_component GO:0045211 postsynaptic membrane; IEA:UniProtKB-KW. # GO_function GO:0005245 voltage-gated calcium channel activity; TAS:ProtInc. # GO_function GO:0015075 ion transmembrane transporter activity; TAS:ProtInc. # GO_function GO:0016247 channel regulator activity; IBA:GO_Central. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0019226 transmission of nerve impulse; IBA:GO_Central. # GO_process GO:0061337 cardiac conduction; TAS:Reactome. # GO_process GO:2000311 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity; ISS:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0050877 neurological system process # Genevisible Q9UF02 HS # HGNC HGNC:1409 CACNG5 # InterPro IPR004031 PMP22/EMP/MP20/Claudin # InterPro IPR008368 VDCC_gsu # InterPro IPR008369 VDCC_g5su # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04010 MAPK signaling pathway # KEGG_Pathway ko04260 Cardiac muscle contraction # KEGG_Pathway ko05410 Hypertrophic cardiomyopathy (HCM) # KEGG_Pathway ko05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC) # KEGG_Pathway ko05414 Dilated cardiomyopathy # MIM 606405 gene # Organism CCG5_HUMAN Homo sapiens (Human) # PRINTS PR01792 VDCCGAMMA # PRINTS PR01793 VDCCGAMMA5 # Pfam PF00822 PMP22_Claudin # Proteomes UP000005640 Chromosome 17 # Reactome R-HSA-5576892 Phase 0 - rapid depolarisation # Reactome R-HSA-5576893 Phase 2 - plateau phase # Reactome R-HSA-5576894 Phase 1 - inactivation of fast Na+ channels # RecName CCG5_HUMAN Voltage-dependent calcium channel gamma-5 subunit # RefSeq NP_665810 NM_145811.2 # SIMILARITY Belongs to the PMP-22/EMP/MP20 family. CACNG subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION CCG5_HUMAN Membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO 0000250}. # SUBUNIT The L-type calcium channel is composed of five subunits: alpha-1, alpha-2/delta, beta and gamma. Acts as an auxiliary subunit for AMPA-selective glutamate receptors (AMPARs). Found in a complex with GRIA1, GRIA2, GRIA3, GRIA4, CNIH2, CNIH3, CACNG2, CACNG3, CACNG4, CACNG7 and CACNG8. Interacts with GRIA1, GRIA2, GRIA3 and GRIA4 (By similarity). {ECO 0000250}. # UCSC uc010wqi human # eggNOG ENOG410IXFC Eukaryota # eggNOG ENOG410XUAQ LUCA BLAST swissprot:CCG5_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CCG5_HUMAN BioCyc ZFISH:ENSG00000075429-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000075429-MONOMER COXPRESdb 27091 http://coxpresdb.jp/data/gene/27091.shtml CleanEx HS_CACNG5 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CACNG5 DOI 10.1016/S0378-1119(01)00738-7 http://dx.doi.org/10.1016/S0378-1119(01)00738-7 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1093/emboj/21.7.1514 http://dx.doi.org/10.1093/emboj/21.7.1514 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1101/gr.9.12.1204 http://dx.doi.org/10.1101/gr.9.12.1204 EMBL AF142618 http://www.ebi.ac.uk/ena/data/view/AF142618 EMBL AF142619 http://www.ebi.ac.uk/ena/data/view/AF142619 EMBL AF142620 http://www.ebi.ac.uk/ena/data/view/AF142620 EMBL AF142621 http://www.ebi.ac.uk/ena/data/view/AF142621 EMBL AF148220 http://www.ebi.ac.uk/ena/data/view/AF148220 EMBL AF361351 http://www.ebi.ac.uk/ena/data/view/AF361351 EMBL AF458898 http://www.ebi.ac.uk/ena/data/view/AF458898 EMBL AK290171 http://www.ebi.ac.uk/ena/data/view/AK290171 EMBL BC101607 http://www.ebi.ac.uk/ena/data/view/BC101607 EMBL BC101633 http://www.ebi.ac.uk/ena/data/view/BC101633 Ensembl ENST00000307139 http://www.ensembl.org/id/ENST00000307139 Ensembl ENST00000533854 http://www.ensembl.org/id/ENST00000533854 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0014069 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014069 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0032281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032281 GO_component GO:0045211 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045211 GO_function GO:0005245 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005245 GO_function GO:0015075 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015075 GO_function GO:0016247 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016247 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0019226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019226 GO_process GO:0061337 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061337 GO_process GO:2000311 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000311 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GeneCards CACNG5 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CACNG5 GeneID 27091 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=27091 GeneTree ENSGT00550000074547 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074547 HGNC HGNC:1409 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:1409 HOGENOM HOG000233439 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000233439&db=HOGENOM6 HOVERGEN HBG025923 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG025923&db=HOVERGEN HPA HPA050115 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA050115 InParanoid Q9UF02 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9UF02 InterPro IPR004031 http://www.ebi.ac.uk/interpro/entry/IPR004031 InterPro IPR008368 http://www.ebi.ac.uk/interpro/entry/IPR008368 InterPro IPR008369 http://www.ebi.ac.uk/interpro/entry/IPR008369 Jabion 27091 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=27091 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:27091 http://www.genome.jp/dbget-bin/www_bget?hsa:27091 KEGG_Orthology KO:K04870 http://www.genome.jp/dbget-bin/www_bget?KO:K04870 KEGG_Pathway ko04010 http://www.genome.jp/kegg-bin/show_pathway?ko04010 KEGG_Pathway ko04260 http://www.genome.jp/kegg-bin/show_pathway?ko04260 KEGG_Pathway ko05410 http://www.genome.jp/kegg-bin/show_pathway?ko05410 KEGG_Pathway ko05412 http://www.genome.jp/kegg-bin/show_pathway?ko05412 KEGG_Pathway ko05414 http://www.genome.jp/kegg-bin/show_pathway?ko05414 MIM 606405 http://www.ncbi.nlm.nih.gov/omim/606405 OMA LKCPEYE http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=LKCPEYE OrthoDB EOG091G0F73 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0F73 PRINTS PR01792 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01792 PRINTS PR01793 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01793 PSORT swissprot:CCG5_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CCG5_HUMAN PSORT-B swissprot:CCG5_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CCG5_HUMAN PSORT2 swissprot:CCG5_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CCG5_HUMAN Pfam PF00822 http://pfam.xfam.org/family/PF00822 PharmGKB PA26019 http://www.pharmgkb.org/do/serve?objId=PA26019&objCls=Gene Phobius swissprot:CCG5_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CCG5_HUMAN PhylomeDB Q9UF02 http://phylomedb.org/?seqid=Q9UF02 ProteinModelPortal Q9UF02 http://www.proteinmodelportal.org/query/uniprot/Q9UF02 PubMed 10613843 http://www.ncbi.nlm.nih.gov/pubmed/10613843 PubMed 11738816 http://www.ncbi.nlm.nih.gov/pubmed/11738816 PubMed 11927536 http://www.ncbi.nlm.nih.gov/pubmed/11927536 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 Reactome R-HSA-5576892 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576892 Reactome R-HSA-5576893 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576893 Reactome R-HSA-5576894 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576894 RefSeq NP_665810 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_665810 STRING 9606.ENSP00000303092 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000303092&targetmode=cogs UCSC uc010wqi http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc010wqi&org=rat UniGene Hs.278907 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.278907 UniProtKB CCG5_HUMAN http://www.uniprot.org/uniprot/CCG5_HUMAN UniProtKB-AC Q9UF02 http://www.uniprot.org/uniprot/Q9UF02 charge swissprot:CCG5_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CCG5_HUMAN eggNOG ENOG410IXFC http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IXFC eggNOG ENOG410XUAQ http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XUAQ epestfind swissprot:CCG5_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CCG5_HUMAN garnier swissprot:CCG5_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CCG5_HUMAN helixturnhelix swissprot:CCG5_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CCG5_HUMAN hmoment swissprot:CCG5_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CCG5_HUMAN iep swissprot:CCG5_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CCG5_HUMAN inforesidue swissprot:CCG5_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CCG5_HUMAN neXtProt NX_Q9UF02 http://www.nextprot.org/db/entry/NX_Q9UF02 octanol swissprot:CCG5_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CCG5_HUMAN pepcoil swissprot:CCG5_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CCG5_HUMAN pepdigest swissprot:CCG5_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CCG5_HUMAN pepinfo swissprot:CCG5_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CCG5_HUMAN pepnet swissprot:CCG5_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CCG5_HUMAN pepstats swissprot:CCG5_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CCG5_HUMAN pepwheel swissprot:CCG5_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CCG5_HUMAN pepwindow swissprot:CCG5_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CCG5_HUMAN sigcleave swissprot:CCG5_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CCG5_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS RHD_HUMAN Event=Alternative splicing; Named isoforms=6; Name=1; Synonyms=Long; IsoId=Q02161-1; Sequence=Displayed; Name=2; Synonyms=Short 1; IsoId=Q02161-2; Sequence=VSP_005706; Name=3; Synonyms=Short 2; IsoId=Q02161-3; Sequence=VSP_005707, VSP_005708; Name=4; IsoId=Q02161-4; Sequence=VSP_047797; Name=5; IsoId=Q02161-5; Sequence=VSP_047796; Name=6; IsoId=Q02161-6; Sequence=VSP_047795, VSP_047798; # AltName RHD_HUMAN CD240D # AltName RHD_HUMAN RHXIII # AltName RHD_HUMAN Rh polypeptide 2 # AltName RHD_HUMAN Rhesus D antigen # CCDS CCDS262 -. [Q02161-1] # CCDS CCDS53285 -. [Q02161-2] # CCDS CCDS60028 -. [Q02161-4] # CCDS CCDS60030 -. [Q02161-5] # CCDS CCDS60031 -. [Q02161-6] # Ensembl ENST00000328664 ENSP00000331871; ENSG00000187010. [Q02161-1] # Ensembl ENST00000342055 ENSP00000339577; ENSG00000187010. [Q02161-4] # Ensembl ENST00000357542 ENSP00000350150; ENSG00000187010. [Q02161-5] # Ensembl ENST00000417538 ENSP00000396420; ENSG00000187010. [Q02161-6] # Ensembl ENST00000454452 ENSP00000413849; ENSG00000187010. [Q02161-2] # ExpressionAtlas Q02161 baseline and differential # FUNCTION RHD_HUMAN May be part of an oligomeric complex which is likely to have a transport or channel function in the erythrocyte membrane. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_function GO:0008519 ammonium transmembrane transporter activity; IBA:GO_Central. # GO_process GO:0015695 organic cation transport; IBA:GO_Central. # GO_process GO:0019740 nitrogen utilization; IBA:GO_Central. # GO_process GO:0072488 ammonium transmembrane transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.10.3430.10 -; 1. # Genevisible Q02161 HS # HGNC HGNC:10009 RHD # InterPro IPR001905 Ammonium_transpt # InterPro IPR002229 RhesusRHD # InterPro IPR024041 NH4_transpt_AmtB-like_dom # InterPro IPR029020 Ammonium/urea_transptr # KEGG_Brite ko02000 Transporters # KEGG_Brite ko04090 Cellular antigens # MIM 111680 gene # Organism RHD_HUMAN Homo sapiens (Human) # Orphanet 71275 Rh deficiency syndrome # PANTHER PTHR11730 PTHR11730 # PIR A46368 A46368 # PIR I52615 I52615 # POLYMORPHISM RHD_HUMAN RHD and RHCE are responsible for the Rh blood group system. The molecular basis of the Tar=Rh40 blood group antigen is a polymorphism in position 110. # PRINTS PR00342 RHESUSRHD # Pfam PF00909 Ammonium_transp # Proteomes UP000005640 Chromosome 1 # RecName RHD_HUMAN Blood group Rh(D) polypeptide # RefSeq NP_001121163 NM_001127691.2. [Q02161-2] # RefSeq NP_001269797 NM_001282868.1. [Q02161-6] # RefSeq NP_001269798 NM_001282869.1. [Q02161-5] # RefSeq NP_001269800 NM_001282871.1. [Q02161-4] # RefSeq NP_057208 NM_016124.4 # SIMILARITY Belongs to the ammonium transporter (TC 2.A.49) family. Rh subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION RHD_HUMAN Membrane; Multi-pass membrane protein. # SUPFAM SSF111352 SSF111352 # TCDB 1.A.11.4 the ammonium transporter channel (amt) family # TISSUE SPECIFICITY RHD_HUMAN Restricted to tissues or cell lines expressing erythroid characters. # UCSC uc001bjz human. [Q02161-1] # WEB RESOURCE RHD_HUMAN Name=dbRBC/BGMUT; Note=Blood group antigen gene mutation database; URL="https //www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/systems_info&system=rh"; # eggNOG ENOG410XTF8 LUCA # eggNOG KOG3796 Eukaryota BLAST swissprot:RHD_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:RHD_HUMAN BioCyc ZFISH:ENSG00000178847-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000178847-MONOMER COXPRESdb 6007 http://coxpresdb.jp/data/gene/6007.shtml DOI 10.1002/ajh.2830490115 http://dx.doi.org/10.1002/ajh.2830490115 DOI 10.1007/BF00222717 http://dx.doi.org/10.1007/BF00222717 DOI 10.1016/j.transci.2005.10.001 http://dx.doi.org/10.1016/j.transci.2005.10.001 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1042/bj2561043 http://dx.doi.org/10.1042/bj2561043 DOI 10.1073/pnas.85.11.4042 http://dx.doi.org/10.1073/pnas.85.11.4042 DOI 10.1073/pnas.89.22.10925 http://dx.doi.org/10.1073/pnas.89.22.10925 DOI 10.1126/science.1133427 http://dx.doi.org/10.1126/science.1133427 EMBL AB018966 http://www.ebi.ac.uk/ena/data/view/AB018966 EMBL AB018967 http://www.ebi.ac.uk/ena/data/view/AB018967 EMBL AB018968 http://www.ebi.ac.uk/ena/data/view/AB018968 EMBL AB018969 http://www.ebi.ac.uk/ena/data/view/AB018969 EMBL AL928711 http://www.ebi.ac.uk/ena/data/view/AL928711 EMBL AY751492 http://www.ebi.ac.uk/ena/data/view/AY751492 EMBL AY751493 http://www.ebi.ac.uk/ena/data/view/AY751493 EMBL AY751495 http://www.ebi.ac.uk/ena/data/view/AY751495 EMBL L08429 http://www.ebi.ac.uk/ena/data/view/L08429 EMBL S57971 http://www.ebi.ac.uk/ena/data/view/S57971 EMBL S70174 http://www.ebi.ac.uk/ena/data/view/S70174 EMBL S73913 http://www.ebi.ac.uk/ena/data/view/S73913 EMBL S78509 http://www.ebi.ac.uk/ena/data/view/S78509 EMBL X63094 http://www.ebi.ac.uk/ena/data/view/X63094 EMBL X63097 http://www.ebi.ac.uk/ena/data/view/X63097 Ensembl ENST00000328664 http://www.ensembl.org/id/ENST00000328664 Ensembl ENST00000342055 http://www.ensembl.org/id/ENST00000342055 Ensembl ENST00000357542 http://www.ensembl.org/id/ENST00000357542 Ensembl ENST00000417538 http://www.ensembl.org/id/ENST00000417538 Ensembl ENST00000454452 http://www.ensembl.org/id/ENST00000454452 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0008519 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008519 GO_process GO:0015695 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015695 GO_process GO:0019740 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019740 GO_process GO:0072488 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0072488 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.10.3430.10 http://www.cathdb.info/version/latest/superfamily/1.10.3430.10 GeneCards RHD http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=RHD GeneID 6007 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6007 GeneTree ENSGT00390000005787 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000005787 HGNC HGNC:10009 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10009 HOVERGEN HBG004374 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG004374&db=HOVERGEN InParanoid Q02161 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q02161 InterPro IPR001905 http://www.ebi.ac.uk/interpro/entry/IPR001905 InterPro IPR002229 http://www.ebi.ac.uk/interpro/entry/IPR002229 InterPro IPR024041 http://www.ebi.ac.uk/interpro/entry/IPR024041 InterPro IPR029020 http://www.ebi.ac.uk/interpro/entry/IPR029020 Jabion 6007 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6007 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Brite ko04090 http://www.genome.jp/dbget-bin/www_bget?ko04090 KEGG_Gene hsa:6007 http://www.genome.jp/dbget-bin/www_bget?hsa:6007 KEGG_Orthology KO:K06579 http://www.genome.jp/dbget-bin/www_bget?KO:K06579 MIM 111680 http://www.ncbi.nlm.nih.gov/omim/111680 OMA XFPHLAV http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=XFPHLAV Orphanet 71275 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=71275 OrthoDB EOG091G06KX http://cegg.unige.ch/orthodb/results?searchtext=EOG091G06KX PANTHER PTHR11730 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11730 PRINTS PR00342 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00342 PSORT swissprot:RHD_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:RHD_HUMAN PSORT-B swissprot:RHD_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:RHD_HUMAN PSORT2 swissprot:RHD_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:RHD_HUMAN Pfam PF00909 http://pfam.xfam.org/family/PF00909 PharmGKB PA34387 http://www.pharmgkb.org/do/serve?objId=PA34387&objCls=Gene Phobius swissprot:RHD_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:RHD_HUMAN PhylomeDB Q02161 http://phylomedb.org/?seqid=Q02161 ProteinModelPortal Q02161 http://www.proteinmodelportal.org/query/uniprot/Q02161 PubMed 1379850 http://www.ncbi.nlm.nih.gov/pubmed/1379850 PubMed 1438298 http://www.ncbi.nlm.nih.gov/pubmed/1438298 PubMed 16510313 http://www.ncbi.nlm.nih.gov/pubmed/16510313 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 16959974 http://www.ncbi.nlm.nih.gov/pubmed/16959974 PubMed 1898705 http://www.ncbi.nlm.nih.gov/pubmed/1898705 PubMed 3131772 http://www.ncbi.nlm.nih.gov/pubmed/3131772 PubMed 3135863 http://www.ncbi.nlm.nih.gov/pubmed/3135863 PubMed 3146980 http://www.ncbi.nlm.nih.gov/pubmed/3146980 PubMed 7606008 http://www.ncbi.nlm.nih.gov/pubmed/7606008 PubMed 7741145 http://www.ncbi.nlm.nih.gov/pubmed/7741145 PubMed 7916743 http://www.ncbi.nlm.nih.gov/pubmed/7916743 PubMed 8080999 http://www.ncbi.nlm.nih.gov/pubmed/8080999 PubMed 8180407 http://www.ncbi.nlm.nih.gov/pubmed/8180407 PubMed 8329718 http://www.ncbi.nlm.nih.gov/pubmed/8329718 RefSeq NP_001121163 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001121163 RefSeq NP_001269797 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001269797 RefSeq NP_001269798 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001269798 RefSeq NP_001269800 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001269800 RefSeq NP_057208 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_057208 STRING 9606.ENSP00000331871 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000331871&targetmode=cogs SUPFAM SSF111352 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF111352 TCDB 1.A.11.4 http://www.tcdb.org/search/result.php?tc=1.A.11.4 UCSC uc001bjz http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001bjz&org=rat UniGene Hs.449968 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.449968 UniProtKB RHD_HUMAN http://www.uniprot.org/uniprot/RHD_HUMAN UniProtKB-AC Q02161 http://www.uniprot.org/uniprot/Q02161 charge swissprot:RHD_HUMAN http://rest.g-language.org/emboss/charge/swissprot:RHD_HUMAN eggNOG ENOG410XTF8 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XTF8 eggNOG KOG3796 http://eggnogapi.embl.de/nog_data/html/tree/KOG3796 epestfind swissprot:RHD_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:RHD_HUMAN garnier swissprot:RHD_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:RHD_HUMAN helixturnhelix swissprot:RHD_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:RHD_HUMAN hmoment swissprot:RHD_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:RHD_HUMAN iep swissprot:RHD_HUMAN http://rest.g-language.org/emboss/iep/swissprot:RHD_HUMAN inforesidue swissprot:RHD_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:RHD_HUMAN neXtProt NX_Q02161 http://www.nextprot.org/db/entry/NX_Q02161 octanol swissprot:RHD_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:RHD_HUMAN pepcoil swissprot:RHD_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:RHD_HUMAN pepdigest swissprot:RHD_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:RHD_HUMAN pepinfo swissprot:RHD_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:RHD_HUMAN pepnet swissprot:RHD_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:RHD_HUMAN pepstats swissprot:RHD_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:RHD_HUMAN pepwheel swissprot:RHD_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:RHD_HUMAN pepwindow swissprot:RHD_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:RHD_HUMAN sigcleave swissprot:RHD_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:RHD_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS CTL4_HUMAN Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q53GD3-1; Sequence=Displayed; Name=2; IsoId=Q53GD3-2; Sequence=VSP_030998; Note=No experimental confirmation available.; Name=3; IsoId=Q53GD3-3; Sequence=VSP_046236; Note=No experimental confirmation available.; Name=4; IsoId=Q53GD3-4; Sequence=VSP_046821; # AltName CTL4_HUMAN Solute carrier family 44 member 4 # CCDS CCDS4724 -. [Q53GD3-1] # CCDS CCDS54989 -. [Q53GD3-3] # CCDS CCDS54990 -. [Q53GD3-4] # ChiTaRS SLC44A4 human # DISEASE CTL4_HUMAN Note=An interstitial deletion causing the fusion of exon 10 of CTL4 with the 3'-UTR of NEU has been detected in two patients affected by sialidosis. # DrugBank DB00122 Choline # Ensembl ENST00000229729 ENSP00000229729; ENSG00000204385. [Q53GD3-1] # Ensembl ENST00000375562 ENSP00000364712; ENSG00000204385. [Q53GD3-4] # Ensembl ENST00000383379 ENSP00000372870; ENSG00000206378. [Q53GD3-1] # Ensembl ENST00000415517 ENSP00000414120; ENSG00000229077 # Ensembl ENST00000417894 ENSP00000389244; ENSG00000235336 # Ensembl ENST00000425238 ENSP00000399161; ENSG00000228263. [Q53GD3-1] # Ensembl ENST00000442152 ENSP00000398852; ENSG00000232180 # Ensembl ENST00000453831 ENSP00000393939; ENSG00000231479. [Q53GD3-1] # Ensembl ENST00000544672 ENSP00000444109; ENSG00000204385. [Q53GD3-3] # Ensembl ENST00000546461 ENSP00000449039; ENSG00000231479. [Q53GD3-3] # Ensembl ENST00000547493 ENSP00000449232; ENSG00000229077 # Ensembl ENST00000547684 ENSP00000449180; ENSG00000206378. [Q53GD3-3] # Ensembl ENST00000548188 ENSP00000447560; ENSG00000228263. [Q53GD3-3] # Ensembl ENST00000549663 ENSP00000449642; ENSG00000228263. [Q53GD3-4] # Ensembl ENST00000549677 ENSP00000449518; ENSG00000206378. [Q53GD3-4] # Ensembl ENST00000550401 ENSP00000448474; ENSG00000235336 # Ensembl ENST00000551168 ENSP00000448088; ENSG00000231479. [Q53GD3-4] # Ensembl ENST00000553121 ENSP00000447704; ENSG00000232180 # ExpressionAtlas Q53GD3 baseline and differential # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0015220 choline transmembrane transporter activity; TAS:Reactome. # GO_process GO:0006656 phosphatidylcholine biosynthetic process; TAS:Reactome. # GO_process GO:0008292 acetylcholine biosynthetic process; IMP:UniProtKB. # GO_process GO:0030307 positive regulation of cell growth; IMP:UniProtKB. # GO_process GO:0055085 transmembrane transport; TAS:Reactome. # GO_process GO:0061526 acetylcholine secretion; IMP:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006629 lipid metabolic process # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0055085 transmembrane transport # Genevisible Q53GD3 HS # HGNC HGNC:13941 SLC44A4 # InterPro IPR007603 Choline_transptr-like # KEGG_Brite ko02001 Solute carrier family # MIM 606107 gene # Organism CTL4_HUMAN Homo sapiens (Human) # PANTHER PTHR12385 PTHR12385; 2 # Pfam PF04515 Choline_transpo # Proteomes UP000005640 Chromosome 6 # Reactome R-HSA-1483191 Synthesis of PC # Reactome R-HSA-425366 Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds # RecName CTL4_HUMAN Choline transporter-like protein 4 # RefSeq NP_001171515 NM_001178044.1. [Q53GD3-4] # RefSeq NP_001171516 NM_001178045.1. [Q53GD3-3] # RefSeq NP_079533 NM_025257.2. [Q53GD3-1] # SIMILARITY Belongs to the CTL (choline transporter-like) family. {ECO 0000305}. # SUBCELLULAR LOCATION CTL4_HUMAN Membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. # TCDB 2.A.92.1 the choline transporter-like (ctl) family # UCSC uc010jti human. [Q53GD3-1] # eggNOG ENOG410XS0P LUCA # eggNOG KOG1362 Eukaryota BLAST swissprot:CTL4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CTL4_HUMAN BioCyc ZFISH:ENSG00000163599-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000163599-MONOMER BioCyc ZFISH:HS03497-MONOMER http://biocyc.org/getid?id=ZFISH:HS03497-MONOMER COXPRESdb 80736 http://coxpresdb.jp/data/gene/80736.shtml DOI 10.1016/S0014-5793(02)02748-5 http://dx.doi.org/10.1016/S0014-5793(02)02748-5 DOI 10.1038/nature02055 http://dx.doi.org/10.1038/nature02055 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.030339697 http://dx.doi.org/10.1073/pnas.030339697 DOI 10.1101/gr.1293003 http://dx.doi.org/10.1101/gr.1293003 DOI 10.1101/gr.1736803 http://dx.doi.org/10.1101/gr.1736803 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1133427 http://dx.doi.org/10.1126/science.1133427 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 DrugBank DB00122 http://www.drugbank.ca/drugs/DB00122 EMBL AF134726 http://www.ebi.ac.uk/ena/data/view/AF134726 EMBL AF466766 http://www.ebi.ac.uk/ena/data/view/AF466766 EMBL AK027397 http://www.ebi.ac.uk/ena/data/view/AK027397 EMBL AK222998 http://www.ebi.ac.uk/ena/data/view/AK222998 EMBL AK300550 http://www.ebi.ac.uk/ena/data/view/AK300550 EMBL AK301596 http://www.ebi.ac.uk/ena/data/view/AK301596 EMBL AL662834 http://www.ebi.ac.uk/ena/data/view/AL662834 EMBL AL671762 http://www.ebi.ac.uk/ena/data/view/AL671762 EMBL AL833009 http://www.ebi.ac.uk/ena/data/view/AL833009 EMBL AL844853 http://www.ebi.ac.uk/ena/data/view/AL844853 EMBL AY358457 http://www.ebi.ac.uk/ena/data/view/AY358457 EMBL BA000025 http://www.ebi.ac.uk/ena/data/view/BA000025 EMBL BC014659 http://www.ebi.ac.uk/ena/data/view/BC014659 EMBL BX005460 http://www.ebi.ac.uk/ena/data/view/BX005460 EMBL CH471081 http://www.ebi.ac.uk/ena/data/view/CH471081 EMBL CR388202 http://www.ebi.ac.uk/ena/data/view/CR388202 EMBL CR759784 http://www.ebi.ac.uk/ena/data/view/CR759784 EMBL CR936237 http://www.ebi.ac.uk/ena/data/view/CR936237 Ensembl ENST00000229729 http://www.ensembl.org/id/ENST00000229729 Ensembl ENST00000375562 http://www.ensembl.org/id/ENST00000375562 Ensembl ENST00000383379 http://www.ensembl.org/id/ENST00000383379 Ensembl ENST00000415517 http://www.ensembl.org/id/ENST00000415517 Ensembl ENST00000417894 http://www.ensembl.org/id/ENST00000417894 Ensembl ENST00000425238 http://www.ensembl.org/id/ENST00000425238 Ensembl ENST00000442152 http://www.ensembl.org/id/ENST00000442152 Ensembl ENST00000453831 http://www.ensembl.org/id/ENST00000453831 Ensembl ENST00000544672 http://www.ensembl.org/id/ENST00000544672 Ensembl ENST00000546461 http://www.ensembl.org/id/ENST00000546461 Ensembl ENST00000547493 http://www.ensembl.org/id/ENST00000547493 Ensembl ENST00000547684 http://www.ensembl.org/id/ENST00000547684 Ensembl ENST00000548188 http://www.ensembl.org/id/ENST00000548188 Ensembl ENST00000549663 http://www.ensembl.org/id/ENST00000549663 Ensembl ENST00000549677 http://www.ensembl.org/id/ENST00000549677 Ensembl ENST00000550401 http://www.ensembl.org/id/ENST00000550401 Ensembl ENST00000551168 http://www.ensembl.org/id/ENST00000551168 Ensembl ENST00000553121 http://www.ensembl.org/id/ENST00000553121 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0015220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015220 GO_process GO:0006656 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006656 GO_process GO:0008292 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008292 GO_process GO:0030307 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030307 GO_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GO_process GO:0061526 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061526 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006629 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006629 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC44A4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC44A4 GeneID 80736 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=80736 GeneTree ENSGT00550000074521 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074521 H-InvDB HIX0166072 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0166072 H-InvDB HIX0166339 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0166339 H-InvDB HIX0167126 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0167126 H-InvDB HIX0184154 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0184154 HGNC HGNC:13941 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:13941 HOGENOM HOG000007110 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000007110&db=HOGENOM6 HOVERGEN HBG062155 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG062155&db=HOVERGEN HPA HPA046977 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA046977 HPA HPA054176 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA054176 InParanoid Q53GD3 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q53GD3 InterPro IPR007603 http://www.ebi.ac.uk/interpro/entry/IPR007603 Jabion 80736 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=80736 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:80736 http://www.genome.jp/dbget-bin/www_bget?hsa:80736 KEGG_Orthology KO:K15377 http://www.genome.jp/dbget-bin/www_bget?KO:K15377 MIM 606107 http://www.ncbi.nlm.nih.gov/omim/606107 OMA KNVLQNQ http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=KNVLQNQ OrthoDB EOG091G04CQ http://cegg.unige.ch/orthodb/results?searchtext=EOG091G04CQ PANTHER PTHR12385 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12385 PSORT swissprot:CTL4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CTL4_HUMAN PSORT-B swissprot:CTL4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CTL4_HUMAN PSORT2 swissprot:CTL4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CTL4_HUMAN Pfam PF04515 http://pfam.xfam.org/family/PF04515 PharmGKB PA25930 http://www.pharmgkb.org/do/serve?objId=PA25930&objCls=Gene Phobius swissprot:CTL4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CTL4_HUMAN PhylomeDB Q53GD3 http://phylomedb.org/?seqid=Q53GD3 ProteinModelPortal Q53GD3 http://www.proteinmodelportal.org/query/uniprot/Q53GD3 PubMed 10677542 http://www.ncbi.nlm.nih.gov/pubmed/10677542 PubMed 12067718 http://www.ncbi.nlm.nih.gov/pubmed/12067718 PubMed 12975309 http://www.ncbi.nlm.nih.gov/pubmed/12975309 PubMed 14574404 http://www.ncbi.nlm.nih.gov/pubmed/14574404 PubMed 14656967 http://www.ncbi.nlm.nih.gov/pubmed/14656967 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16959974 http://www.ncbi.nlm.nih.gov/pubmed/16959974 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 Reactome R-HSA-1483191 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1483191 Reactome R-HSA-425366 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-425366 RefSeq NP_001171515 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001171515 RefSeq NP_001171516 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001171516 RefSeq NP_079533 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_079533 STRING 9606.ENSP00000229729 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000229729&targetmode=cogs TCDB 2.A.92.1 http://www.tcdb.org/search/result.php?tc=2.A.92.1 UCSC uc010jti http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc010jti&org=rat UniGene Hs.335355 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.335355 UniProtKB CTL4_HUMAN http://www.uniprot.org/uniprot/CTL4_HUMAN UniProtKB-AC Q53GD3 http://www.uniprot.org/uniprot/Q53GD3 charge swissprot:CTL4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CTL4_HUMAN eggNOG ENOG410XS0P http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XS0P eggNOG KOG1362 http://eggnogapi.embl.de/nog_data/html/tree/KOG1362 epestfind swissprot:CTL4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CTL4_HUMAN garnier swissprot:CTL4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CTL4_HUMAN helixturnhelix swissprot:CTL4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CTL4_HUMAN hmoment swissprot:CTL4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CTL4_HUMAN iep swissprot:CTL4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CTL4_HUMAN inforesidue swissprot:CTL4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CTL4_HUMAN neXtProt NX_Q53GD3 http://www.nextprot.org/db/entry/NX_Q53GD3 octanol swissprot:CTL4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CTL4_HUMAN pepcoil swissprot:CTL4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CTL4_HUMAN pepdigest swissprot:CTL4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CTL4_HUMAN pepinfo swissprot:CTL4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CTL4_HUMAN pepnet swissprot:CTL4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CTL4_HUMAN pepstats swissprot:CTL4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CTL4_HUMAN pepwheel swissprot:CTL4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CTL4_HUMAN pepwindow swissprot:CTL4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CTL4_HUMAN sigcleave swissprot:CTL4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CTL4_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS SL9C1_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q4G0N8-1; Sequence=Displayed; Name=2; IsoId=Q4G0N8-2; Sequence=VSP_027010; Note=No experimental confirmation available.; # AltName SL9C1_HUMAN Na(+)/H(+) exchanger 10 # AltName SL9C1_HUMAN Solute carrier family 9 member 10 # AltName SL9C1_HUMAN Solute carrier family 9 member C1 # AltName SL9C1_HUMAN Sperm-specific Na(+)/H(+) exchanger # CCDS CCDS33817 -. [Q4G0N8-1] # CCDS CCDS82818 -. [Q4G0N8-2] # DOMAIN SL9C1_HUMAN The ion transport-like region is related to the membrane segments of voltage-gated ion channels. Its function is unknown (By similarity). {ECO 0000250}. # Ensembl ENST00000305815 ENSP00000306627; ENSG00000172139. [Q4G0N8-1] # Ensembl ENST00000487372 ENSP00000420688; ENSG00000172139. [Q4G0N8-2] # ExpressionAtlas Q4G0N8 baseline and differential # FUNCTION SL9C1_HUMAN Sperm-specific sodium/hydrogen exchanger involved in intracellular pH regulation of spermatozoa. Required for sperm motility and fertility. Involved in sperm cell hyperactivation, a step needed for sperm motility which is essential late in the preparation of sperm for fertilization. Required for the expression and bicarbonate regulation of the soluble adenylyl cyclase (sAC) (By similarity). {ECO 0000250}. # GO_component GO:0005886 plasma membrane; IBA:GO_Central. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0031514 motile cilium; IEA:UniProtKB-KW. # GO_function GO:0005216 ion channel activity; IEA:InterPro. # GO_function SL9C1_HUMAN GO 0015385 sodium proton antiporter activity; IBA GO_Central. # GO_function SL9C1_HUMAN GO 0015386 potassium proton antiporter activity; IBA GO_Central. # GO_process GO:0007275 multicellular organism development; IEA:UniProtKB-KW. # GO_process GO:0007283 spermatogenesis; IEA:UniProtKB-KW. # GO_process GO:0030154 cell differentiation; IEA:UniProtKB-KW. # GO_process GO:0030317 flagellated sperm motility; IEA:Ensembl. # GO_process GO:0051453 regulation of intracellular pH; IBA:GO_Central. # GO_process GO:0071805 potassium ion transmembrane transport; IBA:GO_Central. # GO_process GO:0098719 sodium ion import across plasma membrane; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0005929 cilium # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0008150 biological_process # GOslim_process GO:0030154 cell differentiation # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0048870 cell motility # GOslim_process GO:0055085 transmembrane transport # Gene3D 2.60.120.10 -; 1. # HGNC HGNC:31401 SLC9C1 # InterPro IPR000595 cNMP-bd_dom # InterPro IPR005821 Ion_trans_dom # InterPro IPR006153 Cation/H_exchanger # InterPro IPR014710 RmlC-like_jellyroll # InterPro IPR018422 Cation/H_exchanger_CPA1 # InterPro IPR018490 cNMP-bd-like # InterPro IPR028483 N/H_exchanger_10 # KEGG_Brite ko02001 Solute carrier family # MIM 612738 gene # Organism SL9C1_HUMAN Homo sapiens (Human) # PANTHER PTHR10110 PTHR10110; 2 # PANTHER PTHR10110:SF87 PTHR10110:SF87; 2 # PROSITE PS50042 CNMP_BINDING_3 # Pfam PF00027 cNMP_binding # Pfam PF00520 Ion_trans # Pfam PF00999 Na_H_Exchanger # Proteomes UP000005640 Chromosome 3 # Reactome R-HSA-2672351 Stimuli-sensing channels # RecName SL9C1_HUMAN Sodium/hydrogen exchanger 10 # RefSeq NP_001307460 NM_001320531.1. [Q4G0N8-2] # RefSeq NP_898884 NM_183061.2. [Q4G0N8-1] # SEQUENCE CAUTION Sequence=DAA01462.1; Type=Erroneous gene model prediction; Evidence={ECO 0000305}; # SIMILARITY Belongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family. {ECO 0000305}. # SIMILARITY Contains 1 cyclic nucleotide-binding domain. {ECO:0000255|PROSITE-ProRule PRU00060}. # SUBCELLULAR LOCATION SL9C1_HUMAN Cell projection, cilium, flagellum membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. # SUBUNIT Interacts with soluble adenylyl cyclase (sAC). {ECO 0000250}. # SUPFAM SSF51206 SSF51206 # TCDB 2.A.36.7:the monovalent cation proton antiporter-1 (cpa1) family # UCSC uc003dyu human. [Q4G0N8-1] # eggNOG COG0025 LUCA # eggNOG KOG1965 Eukaryota BLAST swissprot:SL9C1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SL9C1_HUMAN COXPRESdb 285335 http://coxpresdb.jp/data/gene/285335.shtml CleanEx HS_SLC9A10 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC9A10 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1471-2164-4-22 http://dx.doi.org/10.1186/1471-2164-4-22 EMBL AK128084 http://www.ebi.ac.uk/ena/data/view/AK128084 EMBL BC044801 http://www.ebi.ac.uk/ena/data/view/BC044801 EMBL BK001328 http://www.ebi.ac.uk/ena/data/view/BK001328 Ensembl ENST00000305815 http://www.ensembl.org/id/ENST00000305815 Ensembl ENST00000487372 http://www.ensembl.org/id/ENST00000487372 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0031514 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031514 GO_function GO:0005216 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005216 GO_function GO:0015385 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015385 GO_function GO:0015386 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015386 GO_process GO:0007275 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007275 GO_process GO:0007283 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007283 GO_process GO:0030154 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030154 GO_process GO:0030317 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030317 GO_process GO:0051453 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051453 GO_process GO:0071805 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071805 GO_process GO:0098719 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0098719 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0005929 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005929 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0030154 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030154 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0048870 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048870 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 2.60.120.10 http://www.cathdb.info/version/latest/superfamily/2.60.120.10 GeneCards SLC9C1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC9C1 GeneID 285335 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=285335 GeneTree ENSGT00530000063840 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000063840 H-InvDB HIX0200547 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0200547 HGNC HGNC:31401 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:31401 HOGENOM HOG000169764 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000169764&db=HOGENOM6 HOVERGEN HBG071202 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG071202&db=HOVERGEN InParanoid Q4G0N8 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q4G0N8 IntAct Q4G0N8 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q4G0N8* InterPro IPR000595 http://www.ebi.ac.uk/interpro/entry/IPR000595 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR006153 http://www.ebi.ac.uk/interpro/entry/IPR006153 InterPro IPR014710 http://www.ebi.ac.uk/interpro/entry/IPR014710 InterPro IPR018422 http://www.ebi.ac.uk/interpro/entry/IPR018422 InterPro IPR018490 http://www.ebi.ac.uk/interpro/entry/IPR018490 InterPro IPR028483 http://www.ebi.ac.uk/interpro/entry/IPR028483 Jabion 285335 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=285335 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:285335 http://www.genome.jp/dbget-bin/www_bget?hsa:285335 KEGG_Orthology KO:K14726 http://www.genome.jp/dbget-bin/www_bget?KO:K14726 MIM 612738 http://www.ncbi.nlm.nih.gov/omim/612738 OMA KMQLKLC http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=KMQLKLC OrthoDB EOG091G031U http://cegg.unige.ch/orthodb/results?searchtext=EOG091G031U PANTHER PTHR10110 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10110 PANTHER PTHR10110:SF87 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10110:SF87 PROSITE PS50042 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50042 PSORT swissprot:SL9C1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SL9C1_HUMAN PSORT-B swissprot:SL9C1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SL9C1_HUMAN PSORT2 swissprot:SL9C1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SL9C1_HUMAN Pfam PF00027 http://pfam.xfam.org/family/PF00027 Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF00999 http://pfam.xfam.org/family/PF00999 PharmGKB PA134914619 http://www.pharmgkb.org/do/serve?objId=PA134914619&objCls=Gene Phobius swissprot:SL9C1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SL9C1_HUMAN PhylomeDB Q4G0N8 http://phylomedb.org/?seqid=Q4G0N8 ProteinModelPortal Q4G0N8 http://www.proteinmodelportal.org/query/uniprot/Q4G0N8 PubMed 12783626 http://www.ncbi.nlm.nih.gov/pubmed/12783626 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 Reactome R-HSA-2672351 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2672351 RefSeq NP_001307460 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001307460 RefSeq NP_898884 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_898884 STRING 9606.ENSP00000306627 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000306627&targetmode=cogs SUPFAM SSF51206 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF51206 TCDB 2.A.36.7 http://www.tcdb.org/search/result.php?tc=2.A.36.7 UCSC uc003dyu http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003dyu&org=rat UniGene Hs.680112 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.680112 UniProtKB SL9C1_HUMAN http://www.uniprot.org/uniprot/SL9C1_HUMAN UniProtKB-AC Q4G0N8 http://www.uniprot.org/uniprot/Q4G0N8 charge swissprot:SL9C1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SL9C1_HUMAN eggNOG COG0025 http://eggnogapi.embl.de/nog_data/html/tree/COG0025 eggNOG KOG1965 http://eggnogapi.embl.de/nog_data/html/tree/KOG1965 epestfind swissprot:SL9C1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SL9C1_HUMAN garnier swissprot:SL9C1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SL9C1_HUMAN helixturnhelix swissprot:SL9C1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SL9C1_HUMAN hmoment swissprot:SL9C1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SL9C1_HUMAN iep swissprot:SL9C1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SL9C1_HUMAN inforesidue swissprot:SL9C1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SL9C1_HUMAN neXtProt NX_Q4G0N8 http://www.nextprot.org/db/entry/NX_Q4G0N8 octanol swissprot:SL9C1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SL9C1_HUMAN pepcoil swissprot:SL9C1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SL9C1_HUMAN pepdigest swissprot:SL9C1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SL9C1_HUMAN pepinfo swissprot:SL9C1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SL9C1_HUMAN pepnet swissprot:SL9C1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SL9C1_HUMAN pepstats swissprot:SL9C1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SL9C1_HUMAN pepwheel swissprot:SL9C1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SL9C1_HUMAN pepwindow swissprot:SL9C1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SL9C1_HUMAN sigcleave swissprot:SL9C1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SL9C1_HUMAN ## Database ID URL or Descriptions # AltName S20A2_HUMAN Gibbon ape leukemia virus receptor 2 # AltName S20A2_HUMAN Phosphate transporter 2 # AltName S20A2_HUMAN Solute carrier family 20 member 2 # BioGrid 112463 13 # ChiTaRS SLC20A2 human # DISEASE S20A2_HUMAN Basal ganglia calcification, idiopathic, 1 (IBGC1) [MIM 213600] A form of basal ganglia calcification, an autosomal dominant condition characterized by symmetric calcification in the basal ganglia and other brain regions. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone are normal. The neuropathological hallmark of the disease is vascular and pericapillary calcification, mainly of calcium phosphate, in the affected brain areas. {ECO 0000269|PubMed 22327515, ECO 0000269|PubMed 23334463, ECO 0000269|PubMed 23406454, ECO 0000269|PubMed 23939468, ECO 0000269|PubMed 24065723, ECO 0000269|PubMed 24463626, ECO 0000269|PubMed 25284758}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000342228 ENSP00000340465; ENSG00000168575 # Ensembl ENST00000520179 ENSP00000429712; ENSG00000168575 # Ensembl ENST00000520262 ENSP00000429754; ENSG00000168575 # ExpressionAtlas Q08357 baseline and differential # FUNCTION S20A2_HUMAN Sodium-phosphate symporter which seems to play a fundamental housekeeping role in phosphate transport by absorbing phosphate from interstitial fluid for normal cellular functions such as cellular metabolism, signal transduction, and nucleic acid and lipid synthesis. In vitro, sodium-dependent phosphate uptake is not siginificantly affected by acidic and alkaline conditions, however sodium-independent phosphate uptake occurs at acidic conditions. May play a role in extracellular matrix, cartilage and vascular calcification. Functions as a retroviral receptor and confers human cells susceptibility to infection to amphotropic murine leukemia virus (A-MuLV), 10A1 murine leukemia virus (10A1 MLV) and some feline leukemia virus subgroup B (FeLV-B) variants. {ECO 0000269|PubMed 11435563, ECO 0000269|PubMed 12205090, ECO 0000269|PubMed 15955065, ECO 0000269|PubMed 16790504, ECO 0000269|PubMed 8302848}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0016020 membrane; TAS:ProtInc. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0001618 virus receptor activity; IEA:UniProtKB-KW. # GO_function GO:0004872 receptor activity; TAS:ProtInc. # GO_function GO:0005315 inorganic phosphate transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015321 sodium-dependent phosphate transmembrane transporter activity; TAS:Reactome. # GO_function S20A2_HUMAN GO 0005436 sodium phosphate symporter activity; TAS ProtInc. # GO_function S20A2_HUMAN GO 0015319 sodium inorganic phosphate symporter activity; IBA GO_Central. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0006811 ion transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # Genevisible Q08357 HS # HGNC HGNC:10947 SLC20A2 # INDUCTION Increased by phosphate depletion in osteosarcoma cell lines. {ECO:0000269|PubMed 9151850}. # IntAct Q08357 2 # InterPro IPR001204 Phos_transporter # KEGG_Brite ko02001 Solute carrier family # KEGG_Disease H01574 [Nervous system disease] Fahr's disease # MIM 158378 gene # MIM 213600 phenotype # Organism S20A2_HUMAN Homo sapiens (Human) # Orphanet 1980 Bilateral striopallidodentate calcinosis # PANTHER PTHR11101 PTHR11101 # PIR A37000 A37000 # Pfam PF01384 PHO4 # Proteomes UP000005640 Chromosome 8 # Reactome R-HSA-427652 Sodium-coupled phosphate cotransporters # RecName S20A2_HUMAN Sodium-dependent phosphate transporter 2 # RefSeq NP_001244109 NM_001257180.1 # RefSeq NP_001244110 NM_001257181.1 # RefSeq NP_006740 NM_006749.4 # RefSeq XP_005273670 XM_005273613.3 # RefSeq XP_016869237 XM_017013748.1 # SIMILARITY Belongs to the inorganic phosphate transporter (PiT) (TC 2.A.20) family. {ECO 0000305}. # SUBCELLULAR LOCATION S20A2_HUMAN Cell membrane {ECO 0000269|PubMed 9151850}; Multi-pass membrane protein {ECO 0000269|PubMed 9151850}. # SUBUNIT S20A2_HUMAN Homodimer. {ECO 0000269|PubMed 12205090, ECO 0000269|PubMed 15955065}. # TCDB 2.A.20.2 the inorganic phosphate transporter (pit) family # TISSUE SPECIFICITY S20A2_HUMAN Ubiquitously expressed. # UCSC uc003xpe human # eggNOG COG0306 LUCA # eggNOG KOG2493 Eukaryota BLAST swissprot:S20A2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S20A2_HUMAN BioCyc ZFISH:ENSG00000168575-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000168575-MONOMER COXPRESdb 6575 http://coxpresdb.jp/data/gene/6575.shtml CleanEx HS_SLC20A2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC20A2 DOI 10.1002/mds.26053 http://dx.doi.org/10.1002/mds.26053 DOI 10.1007/s10048-012-0349-2 http://dx.doi.org/10.1007/s10048-012-0349-2 DOI 10.1016/j.gene.2013.07.071 http://dx.doi.org/10.1016/j.gene.2013.07.071 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/ac9004309 http://dx.doi.org/10.1021/ac9004309 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/ng.1077 http://dx.doi.org/10.1038/ng.1077 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.91.3.1168 http://dx.doi.org/10.1073/pnas.91.3.1168 DOI 10.1074/jbc.M207096200 http://dx.doi.org/10.1074/jbc.M207096200 DOI 10.1093/brain/awt255 http://dx.doi.org/10.1093/brain/awt255 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/ene.12044 http://dx.doi.org/10.1111/ene.12044 DOI 10.1111/j.1742-4658.2005.04720.x http://dx.doi.org/10.1111/j.1742-4658.2005.04720.x DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 DOI 10.1128/JVI.75.12.5584-5592.2001 http://dx.doi.org/10.1128/JVI.75.12.5584-5592.2001 DOI 10.1128/JVI.75.15.6841-6849.2001 http://dx.doi.org/10.1128/JVI.75.15.6841-6849.2001 DOI 10.1152/ajpcell.00015.2006 http://dx.doi.org/10.1152/ajpcell.00015.2006 DOI 10.1212/WNL.0000000000000143 http://dx.doi.org/10.1212/WNL.0000000000000143 EMBL AK291202 http://www.ebi.ac.uk/ena/data/view/AK291202 EMBL BC028600 http://www.ebi.ac.uk/ena/data/view/BC028600 EMBL L20852 http://www.ebi.ac.uk/ena/data/view/L20852 Ensembl ENST00000342228 http://www.ensembl.org/id/ENST00000342228 Ensembl ENST00000520179 http://www.ensembl.org/id/ENST00000520179 Ensembl ENST00000520262 http://www.ensembl.org/id/ENST00000520262 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0001618 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001618 GO_function GO:0004872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004872 GO_function GO:0005315 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005315 GO_function GO:0005436 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005436 GO_function GO:0015319 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015319 GO_function GO:0015321 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015321 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0006811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006811 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GeneCards SLC20A2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC20A2 GeneID 6575 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6575 GeneTree ENSGT00390000014879 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000014879 HGNC HGNC:10947 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10947 HOGENOM HOG000231892 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231892&db=HOGENOM6 HOVERGEN HBG053358 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG053358&db=HOVERGEN HPA HPA026540 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA026540 InParanoid Q08357 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q08357 IntAct Q08357 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q08357* InterPro IPR001204 http://www.ebi.ac.uk/interpro/entry/IPR001204 Jabion 6575 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6575 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Disease H01574 http://www.genome.jp/dbget-bin/www_bget?H01574 KEGG_Gene hsa:6575 http://www.genome.jp/dbget-bin/www_bget?hsa:6575 KEGG_Orthology KO:K14640 http://www.genome.jp/dbget-bin/www_bget?KO:K14640 MIM 158378 http://www.ncbi.nlm.nih.gov/omim/158378 MIM 213600 http://www.ncbi.nlm.nih.gov/omim/213600 OMA PAQESNY http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=PAQESNY Orphanet 1980 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1980 OrthoDB EOG091G07J5 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G07J5 PANTHER PTHR11101 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11101 PSORT swissprot:S20A2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S20A2_HUMAN PSORT-B swissprot:S20A2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S20A2_HUMAN PSORT2 swissprot:S20A2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S20A2_HUMAN Pfam PF01384 http://pfam.xfam.org/family/PF01384 PharmGKB PA35834 http://www.pharmgkb.org/do/serve?objId=PA35834&objCls=Gene Phobius swissprot:S20A2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S20A2_HUMAN PhylomeDB Q08357 http://phylomedb.org/?seqid=Q08357 ProteinModelPortal Q08357 http://www.proteinmodelportal.org/query/uniprot/Q08357 PubMed 11356966 http://www.ncbi.nlm.nih.gov/pubmed/11356966 PubMed 11435563 http://www.ncbi.nlm.nih.gov/pubmed/11435563 PubMed 12205090 http://www.ncbi.nlm.nih.gov/pubmed/12205090 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15955065 http://www.ncbi.nlm.nih.gov/pubmed/15955065 PubMed 16790504 http://www.ncbi.nlm.nih.gov/pubmed/16790504 PubMed 19413330 http://www.ncbi.nlm.nih.gov/pubmed/19413330 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 22327515 http://www.ncbi.nlm.nih.gov/pubmed/22327515 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 23334463 http://www.ncbi.nlm.nih.gov/pubmed/23334463 PubMed 23406454 http://www.ncbi.nlm.nih.gov/pubmed/23406454 PubMed 23939468 http://www.ncbi.nlm.nih.gov/pubmed/23939468 PubMed 24065723 http://www.ncbi.nlm.nih.gov/pubmed/24065723 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 24463626 http://www.ncbi.nlm.nih.gov/pubmed/24463626 PubMed 25284758 http://www.ncbi.nlm.nih.gov/pubmed/25284758 PubMed 8302848 http://www.ncbi.nlm.nih.gov/pubmed/8302848 PubMed 9151850 http://www.ncbi.nlm.nih.gov/pubmed/9151850 Reactome R-HSA-427652 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-427652 RefSeq NP_001244109 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001244109 RefSeq NP_001244110 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001244110 RefSeq NP_006740 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_006740 RefSeq XP_005273670 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005273670 RefSeq XP_016869237 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016869237 STRING 9606.ENSP00000340465 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000340465&targetmode=cogs TCDB 2.A.20.2 http://www.tcdb.org/search/result.php?tc=2.A.20.2 UCSC uc003xpe http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003xpe&org=rat UniGene Hs.653173 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.653173 UniGene Hs.654763 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.654763 UniProtKB S20A2_HUMAN http://www.uniprot.org/uniprot/S20A2_HUMAN UniProtKB-AC Q08357 http://www.uniprot.org/uniprot/Q08357 charge swissprot:S20A2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S20A2_HUMAN eggNOG COG0306 http://eggnogapi.embl.de/nog_data/html/tree/COG0306 eggNOG KOG2493 http://eggnogapi.embl.de/nog_data/html/tree/KOG2493 epestfind swissprot:S20A2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S20A2_HUMAN garnier swissprot:S20A2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S20A2_HUMAN helixturnhelix swissprot:S20A2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S20A2_HUMAN hmoment swissprot:S20A2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S20A2_HUMAN iep swissprot:S20A2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S20A2_HUMAN inforesidue swissprot:S20A2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S20A2_HUMAN neXtProt NX_Q08357 http://www.nextprot.org/db/entry/NX_Q08357 octanol swissprot:S20A2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S20A2_HUMAN pepcoil swissprot:S20A2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S20A2_HUMAN pepdigest swissprot:S20A2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S20A2_HUMAN pepinfo swissprot:S20A2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S20A2_HUMAN pepnet swissprot:S20A2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S20A2_HUMAN pepstats swissprot:S20A2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S20A2_HUMAN pepwheel swissprot:S20A2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S20A2_HUMAN pepwindow swissprot:S20A2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S20A2_HUMAN sigcleave swissprot:S20A2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S20A2_HUMAN ## Database ID URL or Descriptions # AltName RHCG_HUMAN Rh glycoprotein kidney # AltName RHCG_HUMAN Rhesus blood group family type C glycoprotein # AltName RHCG_HUMAN Tumor-related protein DRC2 # ChiTaRS RHCG human # DEVELOPMENTAL STAGE Specifically expressed in fetal kidney. {ECO:0000269|PubMed 10852913}. # Ensembl ENST00000268122 ENSP00000268122; ENSG00000140519 # ExpressionAtlas Q9UBD6 baseline and differential # FUNCTION RHCG_HUMAN Functions as an electroneutral and bidirectional ammonium transporter. May regulate transepithelial ammonia secretion. {ECO 0000269|PubMed 11062476, ECO 0000269|PubMed 14761968, ECO 0000269|PubMed 15929723, ECO 0000269|PubMed 16477434}. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0005887 integral component of plasma membrane; IDA:UniProtKB. # GO_component GO:0016323 basolateral plasma membrane; IDA:UniProtKB. # GO_component GO:0016324 apical plasma membrane; IDA:UniProtKB. # GO_component GO:0031410 cytoplasmic vesicle; ISS:UniProtKB. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0008519 ammonium transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0030506 ankyrin binding; IDA:UniProtKB. # GO_process GO:0006873 cellular ion homeostasis; IDA:UniProtKB. # GO_process GO:0006885 regulation of pH; IEA:Ensembl. # GO_process GO:0015695 organic cation transport; IBA:GO_Central. # GO_process GO:0015696 ammonium transport; IDA:UniProtKB. # GO_process GO:0015837 amine transport; NAS:UniProtKB. # GO_process GO:0019740 nitrogen utilization; IBA:GO_Central. # GO_process GO:0030855 epithelial cell differentiation; NAS:UniProtKB. # GO_process GO:0042592 homeostatic process; NAS:UniProtKB. # GO_process GO:0070634 transepithelial ammonium transport; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0031410 cytoplasmic vesicle # GOslim_component GO:0043226 organelle # GOslim_function GO:0008092 cytoskeletal protein binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0030154 cell differentiation # GOslim_process GO:0042592 homeostatic process # Gene3D 1.10.3430.10 -; 1. # Genevisible Q9UBD6 HS # HGNC HGNC:18140 RHCG # InterPro IPR001905 Ammonium_transpt # InterPro IPR002229 RhesusRHD # InterPro IPR024041 NH4_transpt_AmtB-like_dom # InterPro IPR029020 Ammonium/urea_transptr # KEGG_Brite ko02001 Solute carrier family # KEGG_Brite ko04090 Cellular antigens # MIM 605381 gene # Organism RHCG_HUMAN Homo sapiens (Human) # PANTHER PTHR11730 PTHR11730 # PDB 3HD6 X-ray; 2.10 A; A=2-479 # PRINTS PR00342 RHESUSRHD # PTM RHCG_HUMAN N-glycosylated. {ECO 0000269|PubMed 10852913, ECO 0000269|PubMed 20457942}. # Pfam PF00909 Ammonium_transp # Proteomes UP000005640 Chromosome 15 # Reactome R-HSA-444411 Rhesus glycoproteins mediate ammonium transport # RecName RHCG_HUMAN Ammonium transporter Rh type C # RefSeq NP_001307970 NM_001321041.1 # RefSeq NP_057405 NM_016321.2 # SIMILARITY Belongs to the ammonium transporter (TC 2.A.49) family. Rh subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION RHCG_HUMAN Apical cell membrane {ECO 0000269|PubMed 10852913, ECO 0000269|PubMed 12204676}; Multi- pass membrane protein {ECO 0000269|PubMed 10852913, ECO 0000269|PubMed 12204676}. Note=Also detected at the basolateral membrane and in subapical vesicles. {ECO 0000250}. # SUBUNIT Homotrimer. {ECO:0000269|PubMed 20457942}. # SUPFAM SSF111352 SSF111352 # TCDB 1.A.11.4 the ammonium transporter channel (amt) family # TISSUE SPECIFICITY RHCG_HUMAN Expressed in brain, testis, placenta, pancreas, esophagus and prostate. Expressed in squamous epithelial tissues (at protein level). According to PubMed 11062476, specifically expressed in kidney. {ECO 0000269|PubMed 10852913, ECO 0000269|PubMed 11062476, ECO 0000269|PubMed 12204676}. # UCSC uc002bnz human # eggNOG ENOG410XTF8 LUCA # eggNOG KOG3796 Eukaryota BLAST swissprot:RHCG_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:RHCG_HUMAN BioCyc ZFISH:ENSG00000140519-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000140519-MONOMER COXPRESdb 51458 http://coxpresdb.jp/data/gene/51458.shtml CleanEx HS_RHCG http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_RHCG DIP DIP-59334N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-59334N DOI 10.1007/s00294-006-0062-5 http://dx.doi.org/10.1007/s00294-006-0062-5 DOI 10.1016/S0959-8049(02)00190-9 http://dx.doi.org/10.1016/S0959-8049(02)00190-9 DOI 10.1016/j.tracli.2006.02.025 http://dx.doi.org/10.1016/j.tracli.2006.02.025 DOI 10.1038/81656 http://dx.doi.org/10.1038/81656 DOI 10.1038/nature04601 http://dx.doi.org/10.1038/nature04601 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1042/BJ20050657 http://dx.doi.org/10.1042/BJ20050657 DOI 10.1073/pnas.1003587107 http://dx.doi.org/10.1073/pnas.1003587107 DOI 10.1074/jbc.M003353200 http://dx.doi.org/10.1074/jbc.M003353200 DOI 10.1074/jbc.M308528200 http://dx.doi.org/10.1074/jbc.M308528200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AC013391 http://www.ebi.ac.uk/ena/data/view/AC013391 EMBL AF081497 http://www.ebi.ac.uk/ena/data/view/AF081497 EMBL AF193809 http://www.ebi.ac.uk/ena/data/view/AF193809 EMBL AF219981 http://www.ebi.ac.uk/ena/data/view/AF219981 EMBL AF219982 http://www.ebi.ac.uk/ena/data/view/AF219982 EMBL AF219983 http://www.ebi.ac.uk/ena/data/view/AF219983 EMBL AF219984 http://www.ebi.ac.uk/ena/data/view/AF219984 EMBL AF219985 http://www.ebi.ac.uk/ena/data/view/AF219985 EMBL AF219986 http://www.ebi.ac.uk/ena/data/view/AF219986 EMBL AF284446 http://www.ebi.ac.uk/ena/data/view/AF284446 EMBL AK290899 http://www.ebi.ac.uk/ena/data/view/AK290899 EMBL AK313238 http://www.ebi.ac.uk/ena/data/view/AK313238 EMBL AY257182 http://www.ebi.ac.uk/ena/data/view/AY257182 EMBL BC030965 http://www.ebi.ac.uk/ena/data/view/BC030965 EMBL CH471101 http://www.ebi.ac.uk/ena/data/view/CH471101 Ensembl ENST00000268122 http://www.ensembl.org/id/ENST00000268122 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016323 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:0031410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0008519 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008519 GO_function GO:0030506 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030506 GO_process GO:0006873 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006873 GO_process GO:0006885 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006885 GO_process GO:0015695 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015695 GO_process GO:0015696 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015696 GO_process GO:0015837 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015837 GO_process GO:0019740 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019740 GO_process GO:0030855 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030855 GO_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GO_process GO:0070634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070634 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0031410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0008092 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008092 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0030154 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030154 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 Gene3D 1.10.3430.10 http://www.cathdb.info/version/latest/superfamily/1.10.3430.10 GeneCards RHCG http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=RHCG GeneID 51458 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=51458 GeneTree ENSGT00390000005787 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000005787 HGNC HGNC:18140 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:18140 HOGENOM HOG000007656 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000007656&db=HOGENOM6 HOVERGEN HBG004374 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG004374&db=HOVERGEN HPA HPA041874 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA041874 HPA HPA043317 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA043317 InParanoid Q9UBD6 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9UBD6 InterPro IPR001905 http://www.ebi.ac.uk/interpro/entry/IPR001905 InterPro IPR002229 http://www.ebi.ac.uk/interpro/entry/IPR002229 InterPro IPR024041 http://www.ebi.ac.uk/interpro/entry/IPR024041 InterPro IPR029020 http://www.ebi.ac.uk/interpro/entry/IPR029020 Jabion 51458 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=51458 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Brite ko04090 http://www.genome.jp/dbget-bin/www_bget?ko04090 KEGG_Gene hsa:51458 http://www.genome.jp/dbget-bin/www_bget?hsa:51458 KEGG_Orthology KO:K06580 http://www.genome.jp/dbget-bin/www_bget?KO:K06580 MIM 605381 http://www.ncbi.nlm.nih.gov/omim/605381 OMA DMENEFY http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=DMENEFY OrthoDB EOG091G06KX http://cegg.unige.ch/orthodb/results?searchtext=EOG091G06KX PANTHER PTHR11730 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11730 PDB 3HD6 http://www.ebi.ac.uk/pdbe-srv/view/entry/3HD6 PDBsum 3HD6 http://www.ebi.ac.uk/pdbsum/3HD6 PRINTS PR00342 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00342 PSORT swissprot:RHCG_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:RHCG_HUMAN PSORT-B swissprot:RHCG_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:RHCG_HUMAN PSORT2 swissprot:RHCG_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:RHCG_HUMAN Pfam PF00909 http://pfam.xfam.org/family/PF00909 PharmGKB PA134876043 http://www.pharmgkb.org/do/serve?objId=PA134876043&objCls=Gene Phobius swissprot:RHCG_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:RHCG_HUMAN PhylomeDB Q9UBD6 http://phylomedb.org/?seqid=Q9UBD6 ProteinModelPortal Q9UBD6 http://www.proteinmodelportal.org/query/uniprot/Q9UBD6 PubMed 10852913 http://www.ncbi.nlm.nih.gov/pubmed/10852913 PubMed 11062476 http://www.ncbi.nlm.nih.gov/pubmed/11062476 PubMed 12204676 http://www.ncbi.nlm.nih.gov/pubmed/12204676 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 14761968 http://www.ncbi.nlm.nih.gov/pubmed/14761968 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15929723 http://www.ncbi.nlm.nih.gov/pubmed/15929723 PubMed 16477434 http://www.ncbi.nlm.nih.gov/pubmed/16477434 PubMed 16572171 http://www.ncbi.nlm.nih.gov/pubmed/16572171 PubMed 16580862 http://www.ncbi.nlm.nih.gov/pubmed/16580862 PubMed 20457942 http://www.ncbi.nlm.nih.gov/pubmed/20457942 Reactome R-HSA-444411 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-444411 RefSeq NP_001307970 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001307970 RefSeq NP_057405 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_057405 SMR Q9UBD6 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9UBD6 STRING 9606.ENSP00000268122 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000268122&targetmode=cogs SUPFAM SSF111352 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF111352 TCDB 1.A.11.4 http://www.tcdb.org/search/result.php?tc=1.A.11.4 UCSC uc002bnz http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002bnz&org=rat UniGene Hs.459284 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.459284 UniProtKB RHCG_HUMAN http://www.uniprot.org/uniprot/RHCG_HUMAN UniProtKB-AC Q9UBD6 http://www.uniprot.org/uniprot/Q9UBD6 charge swissprot:RHCG_HUMAN http://rest.g-language.org/emboss/charge/swissprot:RHCG_HUMAN eggNOG ENOG410XTF8 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XTF8 eggNOG KOG3796 http://eggnogapi.embl.de/nog_data/html/tree/KOG3796 epestfind swissprot:RHCG_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:RHCG_HUMAN garnier swissprot:RHCG_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:RHCG_HUMAN helixturnhelix swissprot:RHCG_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:RHCG_HUMAN hmoment swissprot:RHCG_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:RHCG_HUMAN iep swissprot:RHCG_HUMAN http://rest.g-language.org/emboss/iep/swissprot:RHCG_HUMAN inforesidue swissprot:RHCG_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:RHCG_HUMAN neXtProt NX_Q9UBD6 http://www.nextprot.org/db/entry/NX_Q9UBD6 octanol swissprot:RHCG_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:RHCG_HUMAN pepcoil swissprot:RHCG_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:RHCG_HUMAN pepdigest swissprot:RHCG_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:RHCG_HUMAN pepinfo swissprot:RHCG_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:RHCG_HUMAN pepnet swissprot:RHCG_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:RHCG_HUMAN pepstats swissprot:RHCG_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:RHCG_HUMAN pepwheel swissprot:RHCG_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:RHCG_HUMAN pepwindow swissprot:RHCG_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:RHCG_HUMAN sigcleave swissprot:RHCG_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:RHCG_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS AT2B2_HUMAN Event=Alternative splicing; Named isoforms=8; Comment=There is a combination of two alternative spliced domains at N-terminal site A (Z, X, Y and W) and at C-terminal site C (A and B). So far the splice sites have only been studied independently. Experimental confirmation may be lacking for some isoforms.; Name=WB; Synonyms=AIIICI; IsoId=Q01814-1; Sequence=Displayed; Name=WA; Synonyms=AIIICII; IsoId=Q01814-2; Sequence=VSP_000386; Note=Contains a phosphoserine at position 1177. Contains a phosphoserine at position 1165. {ECO 0000244|PubMed 18669648, ECO 0000244|PubMed 24275569}; Name=YA; Synonyms=AIICII; IsoId=Q01814-3; Sequence=VSP_000385, VSP_000386; Note=Contains a phosphoserine at position 1163. Contains a phosphoserine at position 1151. {ECO 0000244|PubMed 18669648, ECO 0000244|PubMed 24275569}; Name=ZA; Synonyms=AICII; IsoId=Q01814-4; Sequence=VSP_000384, VSP_000386; Note=Contains a phosphoserine at position 1132. Contains a phosphoserine at position 1120. {ECO 0000244|PubMed 18669648, ECO 0000244|PubMed 24275569}; Name=YB; Synonyms=AIICI; IsoId=Q01814-5; Sequence=VSP_000385; Name=ZB; Synonyms=AICI; IsoId=Q01814-6; Sequence=VSP_000384; Name=XA; IsoId=Q01814-7; Sequence=VSP_040837, VSP_000386; Note=Contains a phosphoserine at position 1146. Contains a phosphoserine at position 1134. {ECO 0000244|PubMed 18669648, ECO 0000244|PubMed 24275569}; Name=XB; IsoId=Q01814-8; Sequence=VSP_040837; # AltName AT2B2_HUMAN Plasma membrane calcium ATPase isoform 2 # AltName AT2B2_HUMAN Plasma membrane calcium pump isoform 2 # BRENDA 3.6.3 2681 # BioGrid 106981 118 # CATALYTIC ACTIVITY AT2B2_HUMAN ATP + H(2)O + Ca(2+)(Side 1) = ADP + phosphate + Ca(2+)(Side 2). # CCDS CCDS2601 -. [Q01814-6] # CCDS CCDS33701 -. [Q01814-1] # CCDS CCDS82733 -. [Q01814-4] # ChiTaRS ATP2B2 human # Ensembl ENST00000352432 ENSP00000324172; ENSG00000157087. [Q01814-1] # Ensembl ENST00000360273 ENSP00000353414; ENSG00000157087. [Q01814-1] # Ensembl ENST00000383800 ENSP00000373311; ENSG00000157087. [Q01814-6] # Ensembl ENST00000397077 ENSP00000380267; ENSG00000157087. [Q01814-6] # Ensembl ENST00000460129 ENSP00000424494; ENSG00000157087. [Q01814-4] # ExpressionAtlas Q01814 baseline and differential # FUNCTION AT2B2_HUMAN This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium out of the cell. # GO_component GO:0005737 cytoplasm; IDA:UniProtKB. # GO_component GO:0005783 endoplasmic reticulum; IEA:Ensembl. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0005929 cilium; IEA:Ensembl. # GO_component GO:0016324 apical plasma membrane; IEA:Ensembl. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0043025 neuronal cell body; IEA:Ensembl. # GO_component GO:0043231 intracellular membrane-bounded organelle; IBA:GO_Central. # GO_component GO:0045202 synapse; IEA:UniProtKB-SubCell. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0005388 calcium-transporting ATPase activity; IDA:UniProtKB. # GO_function GO:0005509 calcium ion binding; IDA:UniProtKB. # GO_function GO:0005516 calmodulin binding; IDA:UniProtKB. # GO_function GO:0005524 ATP binding; IDA:UniProtKB. # GO_function GO:0008022 protein C-terminus binding; IPI:UniProtKB. # GO_function GO:0030165 PDZ domain binding; IDA:UniProtKB. # GO_function GO:0030899 calcium-dependent ATPase activity; IEA:Ensembl. # GO_function GO:0046872 metal ion binding; IEA:UniProtKB-KW. # GO_process GO:0006810 transport; NAS:UniProtKB. # GO_process GO:0006816 calcium ion transport; IMP:DFLAT. # GO_process GO:0006996 organelle organization; IEA:Ensembl. # GO_process GO:0007595 lactation; IEA:Ensembl. # GO_process GO:0007605 sensory perception of sound; IMP:UniProtKB. # GO_process GO:0007626 locomotory behavior; IEA:Ensembl. # GO_process GO:0008361 regulation of cell size; IEA:Ensembl. # GO_process GO:0021702 cerebellar Purkinje cell differentiation; IEA:Ensembl. # GO_process GO:0021707 cerebellar granule cell differentiation; IEA:Ensembl. # GO_process GO:0030182 neuron differentiation; IDA:UniProtKB. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0040011 locomotion; IEA:Ensembl. # GO_process GO:0042428 serotonin metabolic process; IEA:Ensembl. # GO_process GO:0045299 otolith mineralization; IEA:Ensembl. # GO_process GO:0046068 cGMP metabolic process; IEA:Ensembl. # GO_process GO:0048167 regulation of synaptic plasticity; IEA:Ensembl. # GO_process GO:0050808 synapse organization; IEA:Ensembl. # GO_process GO:0050885 neuromuscular process controlling balance; IEA:Ensembl. # GO_process GO:0050910 detection of mechanical stimulus involved in sensory perception of sound; IEA:Ensembl. # GO_process GO:0051480 regulation of cytosolic calcium ion concentration; IMP:DFLAT. # GO_process GO:0051928 positive regulation of calcium ion transport; IEA:Ensembl. # GO_process GO:0060088 auditory receptor cell stereocilium organization; IEA:Ensembl. # GO_process GO:0090102 cochlea development; IEA:Ensembl. # GO_process GO:1903779 regulation of cardiac conduction; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0005929 cilium # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0030154 cell differentiation # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0040011 locomotion # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0044281 small molecule metabolic process # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0050877 neurological system process # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.20.1110.10 -; 1. # Gene3D 2.70.150.10 -; 2. # Gene3D 3.40.1110.10 -; 1. # Genevisible Q01814 HS # HGNC HGNC:815 ATP2B2 # INTERACTION AT2B2_HUMAN P01258 CALCA; NbExp=2; IntAct=EBI-1174243, EBI-1018474; Q63622 Dlg2 (xeno); NbExp=2; IntAct=EBI-1174262, EBI-396947; Q8SQG9 SLC9A3R2 (xeno); NbExp=3; IntAct=EBI-1174262, EBI-1174758; # IntAct Q01814 9 # InterPro IPR001757 P_typ_ATPase # InterPro IPR004014 ATPase_P-typ_cation-transptr_N # InterPro IPR006068 ATPase_P-typ_cation-transptr_C # InterPro IPR006408 P-type_ATPase_IIB # InterPro IPR008250 ATPase_P-typ_transduc_dom_A # InterPro IPR018303 ATPase_P-typ_P_site # InterPro IPR022141 ATP_Ca_trans_C # InterPro IPR023214 HAD-like_dom # InterPro IPR023298 ATPase_P-typ_TM_dom # InterPro IPR023299 ATPase_P-typ_cyto_domN # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko01000 Enzymes # KEGG_Pathway ko04020 Calcium signaling pathway # KEGG_Pathway ko04970 Salivary secretion # KEGG_Pathway ko04972 Pancreatic secretion # MIM 108733 gene # Organism AT2B2_HUMAN Homo sapiens (Human) # PIR S22393 S22393 # PROSITE PS00154 ATPASE_E1_E2 # Pfam PF00122 E1-E2_ATPase; 2 # Pfam PF00689 Cation_ATPase_C # Pfam PF00690 Cation_ATPase_N # Pfam PF08282 Hydrolase_3 # Pfam PF12424 ATP_Ca_trans_C # Proteomes UP000005640 Chromosome 3 # Reactome R-HSA-418359 Reduction of cytosolic Ca++ levels # Reactome R-HSA-5578775 Ion homeostasis # Reactome R-HSA-936837 Ion transport by P-type ATPases # RecName AT2B2_HUMAN Plasma membrane calcium-transporting ATPase 2 # RefSeq NP_001001331 NM_001001331.2. [Q01814-1] # RefSeq NP_001317540 NM_001330611.1 # RefSeq NP_001674 NM_001683.3. [Q01814-6] # RefSeq XP_005265236 XM_005265179.4. [Q01814-1] # RefSeq XP_006713238 XM_006713175.3. [Q01814-1] # RefSeq XP_011532054 XM_011533752.2. [Q01814-1] # RefSeq XP_016861970 XM_017006481.1. [Q01814-1] # RefSeq XP_016861971 XM_017006482.1. [Q01814-1] # RefSeq XP_016861972 XM_017006483.1. [Q01814-8] # RefSeq XP_016861973 XM_017006484.1. [Q01814-8] # RefSeq XP_016861975 XM_017006486.1. [Q01814-2] # RefSeq XP_016861978 XM_017006489.1. [Q01814-7] # SIMILARITY Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIB subfamily. {ECO 0000305}. # SMART SM00831 Cation_ATPase_N # SUBCELLULAR LOCATION AT2B2_HUMAN Cell junction, synapse {ECO 0000250|UniProtKB Q9R0K7}. Cell membrane {ECO 0000255}; Multi-pass membrane protein {ECO 0000255}. # SUBUNIT Interacts with PDZD11. {ECO:0000269|PubMed 12763866}. # SUPFAM SSF56784 SSF56784; 2 # SUPFAM SSF81660 SSF81660 # TCDB 3.A.3.2.40 the p-type atpase (p-atpase) superfamily # TIGRFAMs TIGR01494 ATPase_P-type; 3 # TIGRFAMs TIGR01517 ATPase-IIB_Ca # TISSUE SPECIFICITY AT2B2_HUMAN Mainly expressed in brain cortex. Found in low levels in skeletal muscle, heart muscle, stomach, liver, kidney and lung. Isoforms containing segment B are found in brain cortex and at low levels in other tissues. Isoforms containing segments X and W are found at low levels in all tissues. Isoforms containing segment A and segment Z are found at low levels in skeletal muscle and heart muscle. # UCSC uc003bvt human. [Q01814-1] # eggNOG ENOG410XNNC LUCA # eggNOG KOG0204 Eukaryota BLAST swissprot:AT2B2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:AT2B2_HUMAN BioCyc ZFISH:HS08176-MONOMER http://biocyc.org/getid?id=ZFISH:HS08176-MONOMER COXPRESdb 491 http://coxpresdb.jp/data/gene/491.shtml CleanEx HS_ATP2B2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ATP2B2 DOI 10.1016/S0888-7543(05)80246-0 http://dx.doi.org/10.1016/S0888-7543(05)80246-0 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1038/nature04728 http://dx.doi.org/10.1038/nature04728 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1111/j.1432-1033.1992.tb16784.x http://dx.doi.org/10.1111/j.1432-1033.1992.tb16784.x DOI 10.1111/j.1749-6632.2003.tb07230.x http://dx.doi.org/10.1111/j.1749-6632.2003.tb07230.x EC_number EC:3.6.3.8 http://www.genome.jp/dbget-bin/www_bget?EC:3.6.3.8 EMBL AC018839 http://www.ebi.ac.uk/ena/data/view/AC018839 EMBL AC090841 http://www.ebi.ac.uk/ena/data/view/AC090841 EMBL L00620 http://www.ebi.ac.uk/ena/data/view/L00620 EMBL L20977 http://www.ebi.ac.uk/ena/data/view/L20977 EMBL M97260 http://www.ebi.ac.uk/ena/data/view/M97260 EMBL U15688 http://www.ebi.ac.uk/ena/data/view/U15688 EMBL X63575 http://www.ebi.ac.uk/ena/data/view/X63575 ENZYME 3.6.3.8 http://enzyme.expasy.org/EC/3.6.3.8 Ensembl ENST00000352432 http://www.ensembl.org/id/ENST00000352432 Ensembl ENST00000360273 http://www.ensembl.org/id/ENST00000360273 Ensembl ENST00000383800 http://www.ensembl.org/id/ENST00000383800 Ensembl ENST00000397077 http://www.ensembl.org/id/ENST00000397077 Ensembl ENST00000460129 http://www.ensembl.org/id/ENST00000460129 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0005929 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005929 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0043025 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043025 GO_component GO:0043231 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043231 GO_component GO:0045202 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045202 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0005388 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005388 GO_function GO:0005509 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005509 GO_function GO:0005516 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005516 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0008022 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008022 GO_function GO:0030165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030165 GO_function GO:0030899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030899 GO_function GO:0046872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046872 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0006816 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006816 GO_process GO:0006996 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006996 GO_process GO:0007595 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007595 GO_process GO:0007605 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007605 GO_process GO:0007626 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007626 GO_process GO:0008361 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008361 GO_process GO:0021702 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021702 GO_process GO:0021707 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021707 GO_process GO:0030182 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030182 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0040011 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0040011 GO_process GO:0042428 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042428 GO_process GO:0045299 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045299 GO_process GO:0046068 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046068 GO_process GO:0048167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048167 GO_process GO:0050808 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050808 GO_process GO:0050885 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050885 GO_process GO:0050910 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050910 GO_process GO:0051480 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051480 GO_process GO:0051928 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051928 GO_process GO:0060088 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060088 GO_process GO:0090102 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090102 GO_process GO:1903779 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903779 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0005929 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005929 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0030154 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030154 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0040011 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0040011 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.20.1110.10 http://www.cathdb.info/version/latest/superfamily/1.20.1110.10 Gene3D 2.70.150.10 http://www.cathdb.info/version/latest/superfamily/2.70.150.10 Gene3D 3.40.1110.10 http://www.cathdb.info/version/latest/superfamily/3.40.1110.10 GeneCards ATP2B2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ATP2B2 GeneID 491 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=491 GeneTree ENSGT00510000046331 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00510000046331 HGNC HGNC:815 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:815 HOGENOM HOG000265623 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000265623&db=HOGENOM6 HOVERGEN HBG061286 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG061286&db=HOVERGEN HPA CAB005606 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB005606 InParanoid Q01814 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q01814 IntAct Q01814 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q01814* IntEnz 3.6.3.8 http://www.ebi.ac.uk/intenz/query?cmd=Search&q=3.6.3.8 InterPro IPR001757 http://www.ebi.ac.uk/interpro/entry/IPR001757 InterPro IPR004014 http://www.ebi.ac.uk/interpro/entry/IPR004014 InterPro IPR006068 http://www.ebi.ac.uk/interpro/entry/IPR006068 InterPro IPR006408 http://www.ebi.ac.uk/interpro/entry/IPR006408 InterPro IPR008250 http://www.ebi.ac.uk/interpro/entry/IPR008250 InterPro IPR018303 http://www.ebi.ac.uk/interpro/entry/IPR018303 InterPro IPR022141 http://www.ebi.ac.uk/interpro/entry/IPR022141 InterPro IPR023214 http://www.ebi.ac.uk/interpro/entry/IPR023214 InterPro IPR023298 http://www.ebi.ac.uk/interpro/entry/IPR023298 InterPro IPR023299 http://www.ebi.ac.uk/interpro/entry/IPR023299 Jabion 491 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=491 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Gene hsa:491 http://www.genome.jp/dbget-bin/www_bget?hsa:491 KEGG_Orthology KO:K05850 http://www.genome.jp/dbget-bin/www_bget?KO:K05850 KEGG_Pathway ko04020 http://www.genome.jp/kegg-bin/show_pathway?ko04020 KEGG_Pathway ko04970 http://www.genome.jp/kegg-bin/show_pathway?ko04970 KEGG_Pathway ko04972 http://www.genome.jp/kegg-bin/show_pathway?ko04972 MIM 108733 http://www.ncbi.nlm.nih.gov/omim/108733 MINT MINT-470839 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-470839 OMA GKMQDGS http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=GKMQDGS OrthoDB EOG091G057D http://cegg.unige.ch/orthodb/results?searchtext=EOG091G057D PROSITE PS00154 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00154 PSORT swissprot:AT2B2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:AT2B2_HUMAN PSORT-B swissprot:AT2B2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:AT2B2_HUMAN PSORT2 swissprot:AT2B2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:AT2B2_HUMAN Pfam PF00122 http://pfam.xfam.org/family/PF00122 Pfam PF00689 http://pfam.xfam.org/family/PF00689 Pfam PF00690 http://pfam.xfam.org/family/PF00690 Pfam PF08282 http://pfam.xfam.org/family/PF08282 Pfam PF12424 http://pfam.xfam.org/family/PF12424 PharmGKB PA25108 http://www.pharmgkb.org/do/serve?objId=PA25108&objCls=Gene Phobius swissprot:AT2B2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:AT2B2_HUMAN PhylomeDB Q01814 http://phylomedb.org/?seqid=Q01814 ProteinModelPortal Q01814 http://www.proteinmodelportal.org/query/uniprot/Q01814 PubMed 12763866 http://www.ncbi.nlm.nih.gov/pubmed/12763866 PubMed 1313367 http://www.ncbi.nlm.nih.gov/pubmed/1313367 PubMed 1427863 http://www.ncbi.nlm.nih.gov/pubmed/1427863 PubMed 16641997 http://www.ncbi.nlm.nih.gov/pubmed/16641997 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 7989379 http://www.ncbi.nlm.nih.gov/pubmed/7989379 PubMed 8245032 http://www.ncbi.nlm.nih.gov/pubmed/8245032 PubMed 8428366 http://www.ncbi.nlm.nih.gov/pubmed/8428366 Reactome R-HSA-418359 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-418359 Reactome R-HSA-5578775 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5578775 Reactome R-HSA-936837 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-936837 RefSeq NP_001001331 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001001331 RefSeq NP_001317540 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001317540 RefSeq NP_001674 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001674 RefSeq XP_005265236 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005265236 RefSeq XP_006713238 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006713238 RefSeq XP_011532054 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011532054 RefSeq XP_016861970 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016861970 RefSeq XP_016861971 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016861971 RefSeq XP_016861972 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016861972 RefSeq XP_016861973 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016861973 RefSeq XP_016861975 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016861975 RefSeq XP_016861978 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016861978 SMART SM00831 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00831 STRING 9606.ENSP00000324172 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000324172&targetmode=cogs SUPFAM SSF56784 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF56784 SUPFAM SSF81660 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81660 TCDB 3.A.3.2.40 http://www.tcdb.org/search/result.php?tc=3.A.3.2.40 TIGRFAMs TIGR01494 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01494 TIGRFAMs TIGR01517 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01517 UCSC uc003bvt http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003bvt&org=rat UniGene Hs.268942 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.268942 UniProtKB AT2B2_HUMAN http://www.uniprot.org/uniprot/AT2B2_HUMAN UniProtKB-AC Q01814 http://www.uniprot.org/uniprot/Q01814 charge swissprot:AT2B2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:AT2B2_HUMAN eggNOG ENOG410XNNC http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XNNC eggNOG KOG0204 http://eggnogapi.embl.de/nog_data/html/tree/KOG0204 epestfind swissprot:AT2B2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:AT2B2_HUMAN garnier swissprot:AT2B2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:AT2B2_HUMAN helixturnhelix swissprot:AT2B2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:AT2B2_HUMAN hmoment swissprot:AT2B2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:AT2B2_HUMAN iep swissprot:AT2B2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:AT2B2_HUMAN inforesidue swissprot:AT2B2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:AT2B2_HUMAN neXtProt NX_Q01814 http://www.nextprot.org/db/entry/NX_Q01814 octanol swissprot:AT2B2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:AT2B2_HUMAN pepcoil swissprot:AT2B2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:AT2B2_HUMAN pepdigest swissprot:AT2B2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:AT2B2_HUMAN pepinfo swissprot:AT2B2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:AT2B2_HUMAN pepnet swissprot:AT2B2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:AT2B2_HUMAN pepstats swissprot:AT2B2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:AT2B2_HUMAN pepwheel swissprot:AT2B2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:AT2B2_HUMAN pepwindow swissprot:AT2B2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:AT2B2_HUMAN sigcleave swissprot:AT2B2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:AT2B2_HUMAN ## Database ID URL or Descriptions # AltName QCR10_HUMAN Complex III subunit 10 # AltName QCR10_HUMAN Complex III subunit XI # AltName QCR10_HUMAN Ubiquinol-cytochrome c reductase complex 6.4 kDa protein # BioGrid 116172 4 # ChiTaRS UQCR11 human # Ensembl ENST00000585671 ENSP00000466420; ENSG00000127540 # Ensembl ENST00000589880 ENSP00000467555; ENSG00000127540 # Ensembl ENST00000591899 ENSP00000467262; ENSG00000127540 # FUNCTION QCR10_HUMAN This is a component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex), which is part of the mitochondrial respiratory chain. # FUNCTION QCR10_HUMAN This protein may be closely linked to the iron-sulfur protein in the complex and function as an iron-sulfur protein binding factor. # GO_component GO:0005743 mitochondrial inner membrane; TAS:Reactome. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0070469 respiratory chain; IEA:UniProtKB-KW. # GO_function GO:0008121 ubiquinol-cytochrome-c reductase activity; IEA:InterPro. # GO_function GO:0009055 electron carrier activity; TAS:UniProtKB. # GO_process GO:0006091 generation of precursor metabolites and energy; TAS:ProtInc. # GO_process GO:0006122 mitochondrial electron transport, ubiquinol to cytochrome c; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0016491 oxidoreductase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006091 generation of precursor metabolites and energy # Gene3D 1.20.5.220 -; 1. # Genevisible O14957 HS # HGNC HGNC:30862 UQCR11 # InterPro IPR015089 UQCR # InterPro IPR029027 Single_a-helix # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Pathway ko00190 Oxidative phosphorylation # KEGG_Pathway ko04260 Cardiac muscle contraction # KEGG_Pathway ko05010 Alzheimer's disease # KEGG_Pathway ko05012 Parkinson's disease # KEGG_Pathway ko05016 Huntington's disease # MIM 609711 gene # Organism QCR10_HUMAN Homo sapiens (Human) # PANTHER PTHR15420 PTHR15420 # Pfam PF08997 UCR_6-4kD # Proteomes UP000005640 Chromosome 19 # Reactome R-HSA-611105 Respiratory electron transport # RecName QCR10_HUMAN Cytochrome b-c1 complex subunit 10 # RefSeq NP_006821 NM_006830.3 # SIMILARITY Belongs to the UQCR11/QCR10 family. {ECO 0000305}. # SUBCELLULAR LOCATION QCR10_HUMAN Mitochondrion inner membrane. # SUBUNIT The bc1 complex contains 11 subunits 3 respiratory subunits (cytochrome b, cytochrome c1 and Rieske/UQCRFS1), 2 core proteins (UQCRC1/QCR1 and UQCRC2/QCR2) and 6 low-molecular weight proteins (UQCRH/QCR6, UQCRB/QCR7, UQCRQ/QCR8, UQCR10/QCR9, UQCR11/QCR10 and a cleavage product of Rieske/UQCRFS1). # SUPFAM SSF81518 SSF81518 # UCSC uc002ltm human # eggNOG ENOG410J5Z0 Eukaryota # eggNOG ENOG410XVMI LUCA BLAST swissprot:QCR10_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:QCR10_HUMAN BioCyc ZFISH:HS05111-MONOMER http://biocyc.org/getid?id=ZFISH:HS05111-MONOMER COXPRESdb 10975 http://coxpresdb.jp/data/gene/10975.shtml CleanEx HS_UQCR http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_UQCR DOI 10.1038/nature02399 http://dx.doi.org/10.1038/nature02399 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AC005321 http://www.ebi.ac.uk/ena/data/view/AC005321 EMBL AC005943 http://www.ebi.ac.uk/ena/data/view/AC005943 EMBL AK312053 http://www.ebi.ac.uk/ena/data/view/AK312053 EMBL BC000462 http://www.ebi.ac.uk/ena/data/view/BC000462 EMBL BC003594 http://www.ebi.ac.uk/ena/data/view/BC003594 EMBL CH471139 http://www.ebi.ac.uk/ena/data/view/CH471139 EMBL CH471139 http://www.ebi.ac.uk/ena/data/view/CH471139 EMBL CH471139 http://www.ebi.ac.uk/ena/data/view/CH471139 EMBL D55636 http://www.ebi.ac.uk/ena/data/view/D55636 Ensembl ENST00000585671 http://www.ensembl.org/id/ENST00000585671 Ensembl ENST00000589880 http://www.ensembl.org/id/ENST00000589880 Ensembl ENST00000591899 http://www.ensembl.org/id/ENST00000591899 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0070469 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070469 GO_function GO:0008121 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008121 GO_function GO:0009055 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009055 GO_process GO:0006091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006091 GO_process GO:0006122 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006122 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0016491 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016491 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006091 Gene3D 1.20.5.220 http://www.cathdb.info/version/latest/superfamily/1.20.5.220 GeneCards UQCR11 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=UQCR11 GeneID 10975 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=10975 GeneTree ENSGT00390000018299 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000018299 HGNC HGNC:30862 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:30862 HOGENOM HOG000030914 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000030914&db=HOGENOM6 HOVERGEN HBG105467 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG105467&db=HOVERGEN InParanoid O14957 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O14957 IntAct O14957 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O14957* InterPro IPR015089 http://www.ebi.ac.uk/interpro/entry/IPR015089 InterPro IPR029027 http://www.ebi.ac.uk/interpro/entry/IPR029027 Jabion 10975 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=10975 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00002 http://www.genome.jp/dbget-bin/www_bget?ko00002 KEGG_Gene hsa:10975 http://www.genome.jp/dbget-bin/www_bget?hsa:10975 KEGG_Orthology KO:K00420 http://www.genome.jp/dbget-bin/www_bget?KO:K00420 KEGG_Pathway ko00190 http://www.genome.jp/kegg-bin/show_pathway?ko00190 KEGG_Pathway ko04260 http://www.genome.jp/kegg-bin/show_pathway?ko04260 KEGG_Pathway ko05010 http://www.genome.jp/kegg-bin/show_pathway?ko05010 KEGG_Pathway ko05012 http://www.genome.jp/kegg-bin/show_pathway?ko05012 KEGG_Pathway ko05016 http://www.genome.jp/kegg-bin/show_pathway?ko05016 MIM 609711 http://www.ncbi.nlm.nih.gov/omim/609711 OMA GMWGAVG http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=GMWGAVG OrthoDB EOG091G1ATB http://cegg.unige.ch/orthodb/results?searchtext=EOG091G1ATB PANTHER PTHR15420 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR15420 PSORT swissprot:QCR10_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:QCR10_HUMAN PSORT-B swissprot:QCR10_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:QCR10_HUMAN PSORT2 swissprot:QCR10_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:QCR10_HUMAN Pfam PF08997 http://pfam.xfam.org/family/PF08997 PharmGKB PA165394505 http://www.pharmgkb.org/do/serve?objId=PA165394505&objCls=Gene Phobius swissprot:QCR10_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:QCR10_HUMAN PhylomeDB O14957 http://phylomedb.org/?seqid=O14957 ProteinModelPortal O14957 http://www.proteinmodelportal.org/query/uniprot/O14957 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15057824 http://www.ncbi.nlm.nih.gov/pubmed/15057824 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 9161705 http://www.ncbi.nlm.nih.gov/pubmed/9161705 Reactome R-HSA-611105 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-611105 RefSeq NP_006821 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_006821 SMR O14957 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=O14957 STRING 9606.ENSP00000466420 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000466420&targetmode=cogs SUPFAM SSF81518 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81518 UCSC uc002ltm http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002ltm&org=rat UniGene Hs.8372 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.8372 UniProtKB QCR10_HUMAN http://www.uniprot.org/uniprot/QCR10_HUMAN UniProtKB-AC O14957 http://www.uniprot.org/uniprot/O14957 charge swissprot:QCR10_HUMAN http://rest.g-language.org/emboss/charge/swissprot:QCR10_HUMAN eggNOG ENOG410J5Z0 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410J5Z0 eggNOG ENOG410XVMI http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XVMI epestfind swissprot:QCR10_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:QCR10_HUMAN garnier swissprot:QCR10_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:QCR10_HUMAN helixturnhelix swissprot:QCR10_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:QCR10_HUMAN hmoment swissprot:QCR10_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:QCR10_HUMAN iep swissprot:QCR10_HUMAN http://rest.g-language.org/emboss/iep/swissprot:QCR10_HUMAN inforesidue swissprot:QCR10_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:QCR10_HUMAN neXtProt NX_O14957 http://www.nextprot.org/db/entry/NX_O14957 octanol swissprot:QCR10_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:QCR10_HUMAN pepcoil swissprot:QCR10_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:QCR10_HUMAN pepdigest swissprot:QCR10_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:QCR10_HUMAN pepinfo swissprot:QCR10_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:QCR10_HUMAN pepnet swissprot:QCR10_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:QCR10_HUMAN pepstats swissprot:QCR10_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:QCR10_HUMAN pepwheel swissprot:QCR10_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:QCR10_HUMAN pepwindow swissprot:QCR10_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:QCR10_HUMAN sigcleave swissprot:QCR10_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:QCR10_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS RBP17_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9H2T7-1; Sequence=Displayed; Name=2; IsoId=Q9H2T7-2; Sequence=VSP_056669, VSP_056670; # BioGrid 122341 8 # CCDS CCDS34287 -. [Q9H2T7-1] # ChiTaRS RANBP17 human # Ensembl ENST00000389118 ENSP00000373770; ENSG00000204764. [Q9H2T7-2] # Ensembl ENST00000519256 ENSP00000429298; ENSG00000204764. [Q9H2T7-2] # Ensembl ENST00000519949 ENSP00000430444; ENSG00000204764. [Q9H2T7-2] # Ensembl ENST00000522533 ENSP00000430599; ENSG00000204764. [Q9H2T7-2] # Ensembl ENST00000523189 ENSP00000427975; ENSG00000204764. [Q9H2T7-1] # ExpressionAtlas Q9H2T7 baseline and differential # FUNCTION RBP17_HUMAN May function as a nuclear transport receptor. {ECO 0000250}. # GO_component GO:0005643 nuclear pore; NAS:UniProtKB. # GO_component GO:0005737 cytoplasm; IBA:GO_Central. # GO_function GO:0005049 nuclear export signal receptor activity; IBA:GO_Central. # GO_function GO:0005525 GTP binding; NAS:UniProtKB. # GO_function GO:0008536 Ran GTPase binding; IBA:GO_Central. # GO_process GO:0006606 protein import into nucleus; NAS:UniProtKB. # GO_process GO:0006611 protein export from nucleus; IBA:GO_Central. # GO_process GO:0051028 mRNA transport; IEA:UniProtKB-KW. # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0043234 protein complex # GOslim_function GO:0008565 protein transporter activity # GOslim_function GO:0019899 enzyme binding # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0006913 nucleocytoplasmic transport # Gene3D 1.25.10.10 -; 1. # Genevisible Q9H2T7 HS # HGNC HGNC:14428 RANBP17 # InterPro IPR001494 Importin-beta_N # InterPro IPR011989 ARM-like # InterPro IPR016024 ARM-type_fold # MIM 606141 gene # Organism RBP17_HUMAN Homo sapiens (Human) # Pfam PF03810 IBN_N # Proteomes UP000005640 Chromosome 5 # RecName RBP17_HUMAN Ran-binding protein 17 # RefSeq NP_075048 NM_022897.4. [Q9H2T7-1] # SEQUENCE CAUTION Sequence=BAB55427.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the exportin family. {ECO 0000305}. # SMART SM00913 IBN_N # SUBCELLULAR LOCATION RBP17_HUMAN Cytoplasm {ECO 0000250}. Nucleus {ECO 0000250}. Nucleus, nuclear pore complex {ECO 0000250}. # SUBUNIT Binds to nucleoporins and the GTP-bound form of Ran. {ECO 0000250}. # SUPFAM SSF48371 SSF48371; 3 # TCDB 1.I.1.1 the nuclear pore complex (npc) family # TISSUE SPECIFICITY Highly expressed in testis, moderately in pancreas and weakly in other tissues studied. {ECO:0000269|PubMed 11071879}. # UCSC uc003mba human. [Q9H2T7-1] # eggNOG ENOG410XRPR LUCA # eggNOG KOG1410 Eukaryota BLAST swissprot:RBP17_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:RBP17_HUMAN BioCyc ZFISH:G66-33598-MONOMER http://biocyc.org/getid?id=ZFISH:G66-33598-MONOMER COXPRESdb 64901 http://coxpresdb.jp/data/gene/64901.shtml CleanEx HS_RANBP17 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_RANBP17 DOI 10.1006/bbrc.2000.3788 http://dx.doi.org/10.1006/bbrc.2000.3788 DOI 10.1038/nature02919 http://dx.doi.org/10.1038/nature02919 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.M006242200 http://dx.doi.org/10.1074/jbc.M006242200 EMBL AC008514 http://www.ebi.ac.uk/ena/data/view/AC008514 EMBL AC010306 http://www.ebi.ac.uk/ena/data/view/AC010306 EMBL AC016574 http://www.ebi.ac.uk/ena/data/view/AC016574 EMBL AC018753 http://www.ebi.ac.uk/ena/data/view/AC018753 EMBL AC021077 http://www.ebi.ac.uk/ena/data/view/AC021077 EMBL AC091980 http://www.ebi.ac.uk/ena/data/view/AC091980 EMBL AF222747 http://www.ebi.ac.uk/ena/data/view/AF222747 EMBL AJ288952 http://www.ebi.ac.uk/ena/data/view/AJ288952 EMBL AJ288953 http://www.ebi.ac.uk/ena/data/view/AJ288953 EMBL AJ288955 http://www.ebi.ac.uk/ena/data/view/AJ288955 EMBL AK027880 http://www.ebi.ac.uk/ena/data/view/AK027880 EMBL CH471062 http://www.ebi.ac.uk/ena/data/view/CH471062 EMBL CH471062 http://www.ebi.ac.uk/ena/data/view/CH471062 EMBL CH471062 http://www.ebi.ac.uk/ena/data/view/CH471062 EMBL CH471062 http://www.ebi.ac.uk/ena/data/view/CH471062 Ensembl ENST00000389118 http://www.ensembl.org/id/ENST00000389118 Ensembl ENST00000519256 http://www.ensembl.org/id/ENST00000519256 Ensembl ENST00000519949 http://www.ensembl.org/id/ENST00000519949 Ensembl ENST00000522533 http://www.ensembl.org/id/ENST00000522533 Ensembl ENST00000523189 http://www.ensembl.org/id/ENST00000523189 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005643 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005643 GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_function GO:0005049 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005049 GO_function GO:0005525 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005525 GO_function GO:0008536 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008536 GO_process GO:0006606 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006606 GO_process GO:0006611 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006611 GO_process GO:0051028 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051028 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_function GO:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006913 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006913 Gene3D 1.25.10.10 http://www.cathdb.info/version/latest/superfamily/1.25.10.10 GeneCards RANBP17 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=RANBP17 GeneID 64901 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=64901 GeneTree ENSGT00730000110927 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00730000110927 HGNC HGNC:14428 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:14428 HOGENOM HOG000139593 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000139593&db=HOGENOM6 HOVERGEN HBG018869 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG018869&db=HOVERGEN HPA HPA029568 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA029568 HPA HPA029569 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA029569 InParanoid Q9H2T7 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9H2T7 InterPro IPR001494 http://www.ebi.ac.uk/interpro/entry/IPR001494 InterPro IPR011989 http://www.ebi.ac.uk/interpro/entry/IPR011989 InterPro IPR016024 http://www.ebi.ac.uk/interpro/entry/IPR016024 Jabion 64901 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=64901 KEGG_Gene hsa:64901 http://www.genome.jp/dbget-bin/www_bget?hsa:64901 MIM 606141 http://www.ncbi.nlm.nih.gov/omim/606141 OMA MDTGLPQ http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=MDTGLPQ OrthoDB EOG091G0ONG http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0ONG PSORT swissprot:RBP17_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:RBP17_HUMAN PSORT-B swissprot:RBP17_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:RBP17_HUMAN PSORT2 swissprot:RBP17_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:RBP17_HUMAN Pfam PF03810 http://pfam.xfam.org/family/PF03810 PharmGKB PA34208 http://www.pharmgkb.org/do/serve?objId=PA34208&objCls=Gene Phobius swissprot:RBP17_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:RBP17_HUMAN PhylomeDB Q9H2T7 http://phylomedb.org/?seqid=Q9H2T7 ProteinModelPortal Q9H2T7 http://www.proteinmodelportal.org/query/uniprot/Q9H2T7 PubMed 11024021 http://www.ncbi.nlm.nih.gov/pubmed/11024021 PubMed 11071879 http://www.ncbi.nlm.nih.gov/pubmed/11071879 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15372022 http://www.ncbi.nlm.nih.gov/pubmed/15372022 RefSeq NP_075048 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_075048 SMART SM00913 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00913 STRING 9606.ENSP00000427975 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000427975&targetmode=cogs SUPFAM SSF48371 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48371 TCDB 1.I.1.1 http://www.tcdb.org/search/result.php?tc=1.I.1.1 UCSC uc003mba http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003mba&org=rat UniGene Hs.410810 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.410810 UniProtKB RBP17_HUMAN http://www.uniprot.org/uniprot/RBP17_HUMAN UniProtKB-AC Q9H2T7 http://www.uniprot.org/uniprot/Q9H2T7 charge swissprot:RBP17_HUMAN http://rest.g-language.org/emboss/charge/swissprot:RBP17_HUMAN eggNOG ENOG410XRPR http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XRPR eggNOG KOG1410 http://eggnogapi.embl.de/nog_data/html/tree/KOG1410 epestfind swissprot:RBP17_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:RBP17_HUMAN garnier swissprot:RBP17_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:RBP17_HUMAN helixturnhelix swissprot:RBP17_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:RBP17_HUMAN hmoment swissprot:RBP17_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:RBP17_HUMAN iep swissprot:RBP17_HUMAN http://rest.g-language.org/emboss/iep/swissprot:RBP17_HUMAN inforesidue swissprot:RBP17_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:RBP17_HUMAN neXtProt NX_Q9H2T7 http://www.nextprot.org/db/entry/NX_Q9H2T7 octanol swissprot:RBP17_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:RBP17_HUMAN pepcoil swissprot:RBP17_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:RBP17_HUMAN pepdigest swissprot:RBP17_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:RBP17_HUMAN pepinfo swissprot:RBP17_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:RBP17_HUMAN pepnet swissprot:RBP17_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:RBP17_HUMAN pepstats swissprot:RBP17_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:RBP17_HUMAN pepwheel swissprot:RBP17_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:RBP17_HUMAN pepwindow swissprot:RBP17_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:RBP17_HUMAN sigcleave swissprot:RBP17_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:RBP17_HUMAN ## Database ID URL or Descriptions # AltName MPC2_HUMAN Brain protein 44 # BioGrid 117389 12 # Ensembl ENST00000271373 ENSP00000271373; ENSG00000143158 # Ensembl ENST00000367846 ENSP00000356820; ENSG00000143158 # ExpressionAtlas O95563 baseline and differential # FUNCTION MPC2_HUMAN Mediates the uptake of pyruvate into mitochondria. {ECO 0000269|PubMed 22628558}. # GO_component GO:0005634 nucleus; IDA:UniProtKB. # GO_component GO:0005739 mitochondrion; IDA:LIFEdb. # GO_component GO:0005743 mitochondrial inner membrane; IEA:UniProtKB-SubCell. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0050833 pyruvate transmembrane transporter activity; IEA:Ensembl. # GO_process GO:0035774 positive regulation of insulin secretion involved in cellular response to glucose stimulus; IEA:Ensembl. # GO_process GO:0061732 mitochondrial acetyl-CoA biosynthetic process from pyruvate; IEA:Ensembl. # GO_process GO:1902361 mitochondrial pyruvate transmembrane transport; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005739 mitochondrion # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006790 sulfur compound metabolic process # GOslim_process GO:0008150 biological_process # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0044281 small molecule metabolic process # GOslim_process GO:0051186 cofactor metabolic process # GOslim_process GO:0055085 transmembrane transport # Genevisible O95563 HS # HGNC HGNC:24515 MPC2 # IntAct O95563 2 # InterPro IPR005336 MPC # MIM 614737 gene # Organism MPC2_HUMAN Homo sapiens (Human) # PIR T14797 T14797 # Pfam PF03650 MPC # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-70268 Pyruvate metabolism # RecName MPC2_HUMAN Mitochondrial pyruvate carrier 2 # RefSeq NP_001137146 NM_001143674.3 # RefSeq NP_056230 NM_015415.3 # RefSeq XP_006711329 XM_006711266.3 # SIMILARITY Belongs to the mitochondrial pyruvate carrier (MPC) (TC 2.A.105) family. {ECO 0000305}. # SUBCELLULAR LOCATION MPC2_HUMAN Mitochondrion inner membrane {ECO 0000269|PubMed 22628558}; Multi-pass membrane protein {ECO 0000269|PubMed 22628558}. # SUBUNIT The functional 150 kDa pyruvate import complex is a heteromer of MPC1 and MPC2. {ECO:0000250|UniProtKB Q9D023}. # TCDB 2.A.105.1 the mitochondrial pyruvate carrier (mpc) family # UCSC uc001ges human # eggNOG ENOG4111UER LUCA # eggNOG KOG1589 Eukaryota BLAST swissprot:MPC2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:MPC2_HUMAN BioCyc ZFISH:ENSG00000143158-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000143158-MONOMER COXPRESdb 25874 http://coxpresdb.jp/data/gene/25874.shtml CleanEx HS_BRP44 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_BRP44 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1101/gr.GR1547R http://dx.doi.org/10.1101/gr.GR1547R DOI 10.1126/science.1218099 http://dx.doi.org/10.1126/science.1218099 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AK290126 http://www.ebi.ac.uk/ena/data/view/AK290126 EMBL AL035304 http://www.ebi.ac.uk/ena/data/view/AL035304 EMBL AL110297 http://www.ebi.ac.uk/ena/data/view/AL110297 EMBL BC104157 http://www.ebi.ac.uk/ena/data/view/BC104157 EMBL BC104158 http://www.ebi.ac.uk/ena/data/view/BC104158 EMBL CH471067 http://www.ebi.ac.uk/ena/data/view/CH471067 EMBL CR407632 http://www.ebi.ac.uk/ena/data/view/CR407632 EMBL CR533473 http://www.ebi.ac.uk/ena/data/view/CR533473 EMBL Z97876 http://www.ebi.ac.uk/ena/data/view/Z97876 Ensembl ENST00000271373 http://www.ensembl.org/id/ENST00000271373 Ensembl ENST00000367846 http://www.ensembl.org/id/ENST00000367846 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0050833 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050833 GO_process GO:0035774 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035774 GO_process GO:0061732 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061732 GO_process GO:1902361 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902361 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006790 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006790 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GOslim_process GO:0051186 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051186 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards MPC2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=MPC2 GeneID 25874 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=25874 GeneTree ENSGT00510000047120 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00510000047120 HGNC HGNC:24515 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:24515 HOGENOM HOG000188910 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000188910&db=HOGENOM6 HOVERGEN HBG023934 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG023934&db=HOVERGEN HPA HPA056091 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA056091 InParanoid O95563 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O95563 IntAct O95563 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O95563* InterPro IPR005336 http://www.ebi.ac.uk/interpro/entry/IPR005336 Jabion 25874 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=25874 KEGG_Gene hsa:25874 http://www.genome.jp/dbget-bin/www_bget?hsa:25874 MIM 614737 http://www.ncbi.nlm.nih.gov/omim/614737 MINT MINT-3003059 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-3003059 OMA ASYHRIL http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=ASYHRIL OrthoDB EOG091G0XXH http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0XXH PSORT swissprot:MPC2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:MPC2_HUMAN PSORT-B swissprot:MPC2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:MPC2_HUMAN PSORT2 swissprot:MPC2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:MPC2_HUMAN Pfam PF03650 http://pfam.xfam.org/family/PF03650 PharmGKB PA142672547 http://www.pharmgkb.org/do/serve?objId=PA142672547&objCls=Gene Phobius swissprot:MPC2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:MPC2_HUMAN PhylomeDB O95563 http://phylomedb.org/?seqid=O95563 ProteinModelPortal O95563 http://www.proteinmodelportal.org/query/uniprot/O95563 PubMed 11230166 http://www.ncbi.nlm.nih.gov/pubmed/11230166 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 22628558 http://www.ncbi.nlm.nih.gov/pubmed/22628558 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 Reactome R-HSA-70268 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-70268 RefSeq NP_001137146 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001137146 RefSeq NP_056230 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_056230 RefSeq XP_006711329 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006711329 STRING 9606.ENSP00000271373 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000271373&targetmode=cogs TCDB 2.A.105.1 http://www.tcdb.org/search/result.php?tc=2.A.105.1 UCSC uc001ges http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001ges&org=rat UniGene Hs.517768 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.517768 UniProtKB MPC2_HUMAN http://www.uniprot.org/uniprot/MPC2_HUMAN UniProtKB-AC O95563 http://www.uniprot.org/uniprot/O95563 charge swissprot:MPC2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:MPC2_HUMAN eggNOG ENOG4111UER http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111UER eggNOG KOG1589 http://eggnogapi.embl.de/nog_data/html/tree/KOG1589 epestfind swissprot:MPC2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:MPC2_HUMAN garnier swissprot:MPC2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:MPC2_HUMAN helixturnhelix swissprot:MPC2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:MPC2_HUMAN hmoment swissprot:MPC2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:MPC2_HUMAN iep swissprot:MPC2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:MPC2_HUMAN inforesidue swissprot:MPC2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:MPC2_HUMAN neXtProt NX_O95563 http://www.nextprot.org/db/entry/NX_O95563 octanol swissprot:MPC2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:MPC2_HUMAN pepcoil swissprot:MPC2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:MPC2_HUMAN pepdigest swissprot:MPC2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:MPC2_HUMAN pepinfo swissprot:MPC2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:MPC2_HUMAN pepnet swissprot:MPC2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:MPC2_HUMAN pepstats swissprot:MPC2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:MPC2_HUMAN pepwheel swissprot:MPC2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:MPC2_HUMAN pepwindow swissprot:MPC2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:MPC2_HUMAN sigcleave swissprot:MPC2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:MPC2_HUMAN ## Database ID URL or Descriptions # AltName SCN4A_HUMAN SkM1 # AltName SCN4A_HUMAN Sodium channel protein skeletal muscle subunit alpha # AltName SCN4A_HUMAN Sodium channel protein type IV subunit alpha # AltName SCN4A_HUMAN Voltage-gated sodium channel subunit alpha Nav1.4 # BioGrid 112234 4 # ChiTaRS SCN4A human # DISEASE SCN4A_HUMAN Myasthenic syndrome, congenital, 16 (CMS16) [MIM 614198] A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness. CMS16 is characterized by fatigable generalized weakness and recurrent attacks of respiratory and bulbar paralysis since birth. The fatigable weakness involves lid-elevator, external ocular, facial, limb and truncal muscles and an decremental response of the compound muscle action potential on repetitive stimulation. {ECO 0000269|PubMed 12766226, ECO 0000269|PubMed 25707578, ECO 0000269|PubMed 26659129}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE SCN4A_HUMAN Myotonia SCN4A-related (MYOSCN4A) [MIM 608390] A phenotypically highly variable myotonia aggravated by potassium loading, and sometimes by cold. Myotonia is characterized by sustained muscle tensing that prevents muscles from relaxing normally. It causes muscle stiffness that can interfere with movement. In some people the stiffness is very mild, while in other cases it may be severe enough to interfere with walking, running, and other activities of daily life. Myotonia SCN4A- related includes myotonia permanens and myotonia fluctuans. In myotonia permanens, the myotonia is generalized and there is a hypertrophy of the muscle, particularly in the neck and the shoulder. Attacks of severe muscle stiffness of the thoracic muscles may be life threatening due to impaired ventilation. In myotonia fluctuans, the muscle stiffness may fluctuate from day to day, provoked by exercise. {ECO 0000269|PubMed 10218481, ECO 0000269|PubMed 16786525, ECO 0000269|PubMed 16832098, ECO 0000269|PubMed 17212350, ECO 0000269|PubMed 17998485, ECO 0000269|PubMed 18203179, ECO 0000269|PubMed 18337100, ECO 0000269|PubMed 19015483, ECO 0000269|PubMed 19347921, ECO 0000269|PubMed 20076800, ECO 0000269|PubMed 8058156, ECO 0000269|PubMed 9392583}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE SCN4A_HUMAN Note=SCN4A mutations are the cause of an autosomal recessive neuromuscular disorder characterized by severe fetal hypokinesia, neonatal hypotonia and congenital myopathy of variable severity. The most severe clinical features include reduced or absent fetal movements, in-utero upper and lower limb contractures, talipes and hydrops, and intrauterine or early postnatal death. Mildly affected patients present with generalized hypotonia and weakness at birth or within the first few days of life, mild-to-moderate facial muscle weakness without ptosis, significant early respiratory and feeding difficulties, and skeletal abnormalities of the spine and palate. Symptoms improve over time in patients who survive infancy, resulting in gain of muscle strength and motor skills and concomitant resolution of early respiratory and feeding difficulties. In contrast to other SCN4A-related channelopathies, affected individuals manifest in- utero or neonatal onset of permanent muscle weakness, rather than later-onset episodic muscle weakness. {ECO 0000269|PubMed 26700687}. # DISEASE SCN4A_HUMAN Paramyotonia congenita of von Eulenburg (PMC) [MIM 168300] An autosomal dominant channelopathy characterized by myotonia, increased by exposure to cold, intermittent flaccid paresis, not necessarily dependent on cold or myotonia, lability of serum potassium, non-progressive nature and lack of atrophy or hypertrophy of muscles. In some patients, myotonia is not increased by cold exposure (paramyotonia without cold paralysis). Patients may have a combination phenotype of PMC and HYPP. {ECO 0000269|PubMed 10369308, ECO 0000269|PubMed 10727489, ECO 0000269|PubMed 1310898, ECO 0000269|PubMed 1316765, ECO 0000269|PubMed 1338909, ECO 0000269|PubMed 15318338, ECO 0000269|PubMed 15790667, ECO 0000269|PubMed 16786525, ECO 0000269|PubMed 18166706, ECO 0000269|PubMed 19077043, ECO 0000269|PubMed 20076800, ECO 0000269|PubMed 8242056, ECO 0000269|PubMed 8308722, ECO 0000269|PubMed 8388676, ECO 0000269|PubMed 8580427}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE SCN4A_HUMAN Periodic paralysis hyperkalemic (HYPP) [MIM 170500] An autosomal dominant channelopathy characterized by episodic flaccid generalized muscle weakness associated with high levels of serum potassium. Concurrence of myotonia is found in HYPP patients. {ECO 0000269|PubMed 1659668, ECO 0000269|PubMed 1659948, ECO 0000269|PubMed 20076800}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE SCN4A_HUMAN Periodic paralysis hypokalemic 2 (HOKPP2) [MIM 613345] An autosomal dominant disorder manifested by episodic flaccid generalized muscle weakness associated with falls of serum potassium levels. {ECO 0000269|PubMed 10599760, ECO 0000269|PubMed 10851391, ECO 0000269|PubMed 10944223, ECO 0000269|PubMed 11558801, ECO 0000269|PubMed 11591859, ECO 0000269|PubMed 16890191, ECO 0000269|PubMed 17898326, ECO 0000269|PubMed 18162704, ECO 0000269|PubMed 19118277, ECO 0000269|PubMed 20522878, ECO 0000269|PubMed 21043388, ECO 0000269|PubMed 24549961}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE SCN4A_HUMAN Periodic paralysis normokalemic (NKPP) [MIM 170500] A disorder closely related to hyperkalemic periodic paralysis, but marked by a lack of alterations in potassium levels during attacks of muscle weakness. {ECO 0000269|PubMed 15596759, ECO 0000269|PubMed 18046642, ECO 0000269|PubMed 20522878}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DOMAIN SCN4A_HUMAN The sequence contains 4 internal repeats, each with 5 hydrophobic segments (S1,S2,S3,S5,S6) and one positively charged segment (S4). Segments S4 are probably the voltage-sensors and are characterized by a series of positively charged amino acids at every third position. # DrugBank DB00313 Valproic Acid # DrugBank DB00586 Diclofenac # DrugBank DB00818 Propofol # DrugBank DB00909 Zonisamide # DrugBank DB01195 Flecainide # Ensembl ENST00000435607 ENSP00000396320; ENSG00000007314 # ExpressionAtlas P35499 baseline and differential # FUNCTION SCN4A_HUMAN This protein mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient. This sodium channel may be present in both denervated and innervated skeletal muscle. {ECO 0000269|PubMed 15318338, ECO 0000269|PubMed 16890191}. # GO_component GO:0001518 voltage-gated sodium channel complex; IEA:InterPro. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_function GO:0005248 voltage-gated sodium channel activity; TAS:ProtInc. # GO_process GO:0006814 sodium ion transport; TAS:ProtInc. # GO_process GO:0006936 muscle contraction; TAS:ProtInc. # GO_process GO:0019228 neuronal action potential; IBA:GO_Central. # GO_process GO:0086010 membrane depolarization during action potential; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # Gene3D 1.20.120.350 -; 4. # Genevisible P35499 HS # HGNC HGNC:10591 SCN4A # InterPro IPR000048 IQ_motif_EF-hand-BS # InterPro IPR001696 Na_channel_asu # InterPro IPR005821 Ion_trans_dom # InterPro IPR008052 Na_channel_a4su_mammal # InterPro IPR010526 Na_trans_assoc # InterPro IPR027359 Channel_four-helix_dom # InterPro IPR028826 Na_channel_a4su # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00215:[Inherited metabolic disease; Nervous system disease; Muscular disease] Andersen-Tawil syndrome (ATS) [DS H00748] # KEGG_Disease H00743 [Musculoskeletal disease; Nervous system disease] Paramyotonia congenita (PMC) # KEGG_Disease H00744 [Musculoskeletal disease; Nervous system disease] Acetazolamide responsive myotonia # KEGG_Disease H00745 [Musculoskeletal disease; Nervous system disease; Inherited metabolic disease] Hyperkalemic periodic paralysis (HyperPP) # KEGG_Disease H00746 [Musculoskeletal disease; Nervous system disease; Inherited metabolic disease] Hypokalemic periodic paralysis (HypoPP) # KEGG_Disease H00770 [Nervous system disease] Congenital myasthenic syndrome # MIM 168300 phenotype # MIM 170500 phenotype # MIM 603967 gene # MIM 608390 phenotype # MIM 613345 phenotype # MIM 614198 phenotype # Organism SCN4A_HUMAN Homo sapiens (Human) # Orphanet 681 Hypokalemic periodic paralysis # Orphanet 682 Hyperkalemic periodic paralysis # Orphanet 684 Paramyotonia congenita of Von Eulenburg # Orphanet 98913 Postsynaptic congenital myasthenic syndromes # Orphanet 99734 Myotonia fluctuans # Orphanet 99735 Myotonia permanens # Orphanet 99736 Acetazolamide-responsive myotonia # PANTHER PTHR10037:SF223 PTHR10037:SF223; 2 # PIR I51964 I51964 # PIR I54323 I54323 # PIR I64893 I64893 # PIR JS0648 JS0648 # PRINTS PR00170 NACHANNEL # PRINTS PR01665 NACHANNEL4 # PROSITE PS50096 IQ # PTM SCN4A_HUMAN Phosphorylation at Ser-1328 by PKC in a highly conserved cytoplasmic loop slows inactivation of the sodium channel and reduces peak sodium currents. {ECO 0000250}. # Pfam PF00520 Ion_trans; 4 # Pfam PF06512 Na_trans_assoc # Proteomes UP000005640 Chromosome 17 # Reactome R-HSA-445095 Interaction between L1 and Ankyrins # Reactome R-HSA-5576892 Phase 0 - rapid depolarisation # RecName SCN4A_HUMAN Sodium channel protein type 4 subunit alpha # RefSeq NP_000325 NM_000334.4 # SIMILARITY Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.4/SCN4A subfamily. {ECO 0000305}. # SIMILARITY Contains 1 IQ domain. {ECO:0000255|PROSITE- ProRule PRU00116}. # SUBCELLULAR LOCATION SCN4A_HUMAN Cell membrane {ECO 0000269|PubMed 15318338, ECO 0000269|PubMed 16890191}; Multi-pass membrane protein {ECO 0000305}. # SUBUNIT Muscle sodium channels contain an alpha subunit and a smaller beta subunit. Interacts with the PDZ domain of the syntrophin SNTA1, SNTB1 and SNTB2 (By similarity). {ECO 0000250}. # TCDB 1.A.1.10 the voltage-gated ion channel (vic) superfamily # UCSC uc002jds human # WEB RESOURCE SCN4A_HUMAN Name=Wikipedia; Note=SCN4A entry; URL="https //en.wikipedia.org/wiki/SCN4A"; # eggNOG COG1226 LUCA # eggNOG ENOG410INF8 Eukaryota BLAST swissprot:SCN4A_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SCN4A_HUMAN BioCyc ZFISH:ENSG00000007314-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000007314-MONOMER COXPRESdb 6329 http://coxpresdb.jp/data/gene/6329.shtml CleanEx HS_SCN4A http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SCN4A DOI 10.1001/archneur.56.6.692 http://dx.doi.org/10.1001/archneur.56.6.692 DOI 10.1002/ajmg.a.32141 http://dx.doi.org/10.1002/ajmg.a.32141 DOI 10.1002/ana.1144 http://dx.doi.org/10.1002/ana.1144 DOI 10.1002/ana.20905 http://dx.doi.org/10.1002/ana.20905 DOI 10.1002/ana.24389 http://dx.doi.org/10.1002/ana.24389 DOI 10.1002/ana.410310203 http://dx.doi.org/10.1002/ana.410310203 DOI 10.1002/ana.410330312 http://dx.doi.org/10.1002/ana.410330312 DOI 10.1002/ana.410370320 http://dx.doi.org/10.1002/ana.410370320 DOI 10.1002/ana.410420219 http://dx.doi.org/10.1002/ana.410420219 DOI 10.1002/ana.410420520 http://dx.doi.org/10.1002/ana.410420520 DOI 10.1002/mus.20080 http://dx.doi.org/10.1002/mus.20080 DOI 10.1002/mus.20733 http://dx.doi.org/10.1002/mus.20733 DOI 10.1002/mus.21155 http://dx.doi.org/10.1002/mus.21155 DOI 10.1007/s10571-007-9231-4 http://dx.doi.org/10.1007/s10571-007-9231-4 DOI 10.1016/0006-291X(92)91802-W http://dx.doi.org/10.1016/0006-291X(92)91802-W DOI 10.1016/0092-8674(91)90374-8 http://dx.doi.org/10.1016/0092-8674(91)90374-8 DOI 10.1016/0092-8674(92)90151-2 http://dx.doi.org/10.1016/0092-8674(92)90151-2 DOI 10.1016/0896-6273(92)90203-P http://dx.doi.org/10.1016/0896-6273(92)90203-P DOI 10.1016/S0014-5793(99)00338-5 http://dx.doi.org/10.1016/S0014-5793(99)00338-5 DOI 10.1016/j.bbrc.2006.07.101 http://dx.doi.org/10.1016/j.bbrc.2006.07.101 DOI 10.1016/j.nmd.2008.01.007 http://dx.doi.org/10.1016/j.nmd.2008.01.007 DOI 10.1016/j.nmd.2015.01.006 http://dx.doi.org/10.1016/j.nmd.2015.01.006 DOI 10.1038/354387a0 http://dx.doi.org/10.1038/354387a0 DOI 10.1038/nature04689 http://dx.doi.org/10.1038/nature04689 DOI 10.1038/nature19057 http://dx.doi.org/10.1038/nature19057 DOI 10.1038/ng1092-148 http://dx.doi.org/10.1038/ng1092-148 DOI 10.1073/pnas.1230273100 http://dx.doi.org/10.1073/pnas.1230273100 DOI 10.1073/pnas.97.17.9549 http://dx.doi.org/10.1073/pnas.97.17.9549 DOI 10.1093/brain/awu015 http://dx.doi.org/10.1093/brain/awu015 DOI 10.1093/brain/awv352 http://dx.doi.org/10.1093/brain/awv352 DOI 10.1093/hmg/1.7.521 http://dx.doi.org/10.1093/hmg/1.7.521 DOI 10.1093/hmg/2.9.1349 http://dx.doi.org/10.1093/hmg/2.9.1349 DOI 10.1111/j.1440-1789.2008.00985.x http://dx.doi.org/10.1111/j.1440-1789.2008.00985.x DOI 10.1113/jphysiol.1993.sp019843 http://dx.doi.org/10.1113/jphysiol.1993.sp019843 DOI 10.1113/jphysiol.2004.081018 http://dx.doi.org/10.1113/jphysiol.2004.081018 DOI 10.1136/jnnp.2009.177451 http://dx.doi.org/10.1136/jnnp.2009.177451 DOI 10.1136/jnnp.68.4.504 http://dx.doi.org/10.1136/jnnp.68.4.504 DOI 10.1212/01.WNL.0000145768.09934.EC http://dx.doi.org/10.1212/01.WNL.0000145768.09934.EC DOI 10.1212/01.wnl.0000223838.88872.da http://dx.doi.org/10.1212/01.wnl.0000223838.88872.da DOI 10.1212/01.wnl.0000265397.70057.d8 http://dx.doi.org/10.1212/01.wnl.0000265397.70057.d8 DOI 10.1212/01.wnl.0000287069.21162.94 http://dx.doi.org/10.1212/01.wnl.0000287069.21162.94 DOI 10.1212/01.wnl.0000290831.08585.2c http://dx.doi.org/10.1212/01.wnl.0000290831.08585.2c DOI 10.1212/01.wnl.0000335168.86248.55 http://dx.doi.org/10.1212/01.wnl.0000335168.86248.55 DOI 10.1212/01.wnl.0000342387.65477.46 http://dx.doi.org/10.1212/01.wnl.0000342387.65477.46 DOI 10.1212/WNL.0000000000002264 http://dx.doi.org/10.1212/WNL.0000000000002264 DOI 10.1212/WNL.44.8.1500 http://dx.doi.org/10.1212/WNL.44.8.1500 DOI 10.1212/WNL.53.9.1932 http://dx.doi.org/10.1212/WNL.53.9.1932 DOI 10.1212/WNL.54.11.2179 http://dx.doi.org/10.1212/WNL.54.11.2179 DOI 10.1212/WNL.57.7.1323 http://dx.doi.org/10.1212/WNL.57.7.1323 DOI 10.3346/jkms.2007.22.6.946 http://dx.doi.org/10.3346/jkms.2007.22.6.946 DOI 10.3988/jcn.2009.5.4.186 http://dx.doi.org/10.3988/jcn.2009.5.4.186 DOI 10.4161/chan.2.1.6051 http://dx.doi.org/10.4161/chan.2.1.6051 DrugBank DB00313 http://www.drugbank.ca/drugs/DB00313 DrugBank DB00586 http://www.drugbank.ca/drugs/DB00586 DrugBank DB00818 http://www.drugbank.ca/drugs/DB00818 DrugBank DB00909 http://www.drugbank.ca/drugs/DB00909 DrugBank DB01195 http://www.drugbank.ca/drugs/DB01195 EMBL AC127029 http://www.ebi.ac.uk/ena/data/view/AC127029 EMBL AY212253 http://www.ebi.ac.uk/ena/data/view/AY212253 EMBL L01962 http://www.ebi.ac.uk/ena/data/view/L01962 EMBL L01963 http://www.ebi.ac.uk/ena/data/view/L01963 EMBL L01964 http://www.ebi.ac.uk/ena/data/view/L01964 EMBL L01965 http://www.ebi.ac.uk/ena/data/view/L01965 EMBL L01966 http://www.ebi.ac.uk/ena/data/view/L01966 EMBL L01967 http://www.ebi.ac.uk/ena/data/view/L01967 EMBL L01968 http://www.ebi.ac.uk/ena/data/view/L01968 EMBL L01969 http://www.ebi.ac.uk/ena/data/view/L01969 EMBL L01970 http://www.ebi.ac.uk/ena/data/view/L01970 EMBL L01971 http://www.ebi.ac.uk/ena/data/view/L01971 EMBL L01972 http://www.ebi.ac.uk/ena/data/view/L01972 EMBL L01973 http://www.ebi.ac.uk/ena/data/view/L01973 EMBL L01974 http://www.ebi.ac.uk/ena/data/view/L01974 EMBL L01975 http://www.ebi.ac.uk/ena/data/view/L01975 EMBL L01976 http://www.ebi.ac.uk/ena/data/view/L01976 EMBL L01977 http://www.ebi.ac.uk/ena/data/view/L01977 EMBL L01978 http://www.ebi.ac.uk/ena/data/view/L01978 EMBL L01979 http://www.ebi.ac.uk/ena/data/view/L01979 EMBL L01980 http://www.ebi.ac.uk/ena/data/view/L01980 EMBL L01981 http://www.ebi.ac.uk/ena/data/view/L01981 EMBL L01982 http://www.ebi.ac.uk/ena/data/view/L01982 EMBL L01983 http://www.ebi.ac.uk/ena/data/view/L01983 EMBL L04216 http://www.ebi.ac.uk/ena/data/view/L04216 EMBL L04217 http://www.ebi.ac.uk/ena/data/view/L04217 EMBL L04218 http://www.ebi.ac.uk/ena/data/view/L04218 EMBL L04219 http://www.ebi.ac.uk/ena/data/view/L04219 EMBL L04220 http://www.ebi.ac.uk/ena/data/view/L04220 EMBL L04221 http://www.ebi.ac.uk/ena/data/view/L04221 EMBL L04222 http://www.ebi.ac.uk/ena/data/view/L04222 EMBL L04223 http://www.ebi.ac.uk/ena/data/view/L04223 EMBL L04224 http://www.ebi.ac.uk/ena/data/view/L04224 EMBL L04225 http://www.ebi.ac.uk/ena/data/view/L04225 EMBL L04226 http://www.ebi.ac.uk/ena/data/view/L04226 EMBL L04227 http://www.ebi.ac.uk/ena/data/view/L04227 EMBL L04228 http://www.ebi.ac.uk/ena/data/view/L04228 EMBL L04229 http://www.ebi.ac.uk/ena/data/view/L04229 EMBL L04230 http://www.ebi.ac.uk/ena/data/view/L04230 EMBL L04231 http://www.ebi.ac.uk/ena/data/view/L04231 EMBL L04232 http://www.ebi.ac.uk/ena/data/view/L04232 EMBL L04233 http://www.ebi.ac.uk/ena/data/view/L04233 EMBL L04234 http://www.ebi.ac.uk/ena/data/view/L04234 EMBL L04235 http://www.ebi.ac.uk/ena/data/view/L04235 EMBL L04236 http://www.ebi.ac.uk/ena/data/view/L04236 EMBL M81758 http://www.ebi.ac.uk/ena/data/view/M81758 EMBL S82622 http://www.ebi.ac.uk/ena/data/view/S82622 Ensembl ENST00000435607 http://www.ensembl.org/id/ENST00000435607 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0001518 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001518 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0005248 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005248 GO_process GO:0006814 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006814 GO_process GO:0006936 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006936 GO_process GO:0019228 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019228 GO_process GO:0086010 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086010 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 Gene3D 1.20.120.350 http://www.cathdb.info/version/latest/superfamily/1.20.120.350 GeneCards SCN4A http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SCN4A GeneID 6329 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6329 GeneTree ENSGT00830000128242 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00830000128242 H-InvDB HIX0039131 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0039131 HGNC HGNC:10591 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10591 HOGENOM HOG000231755 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231755&db=HOGENOM6 HOVERGEN HBG053100 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG053100&db=HOVERGEN HPA HPA053992 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA053992 InParanoid P35499 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P35499 InterPro IPR000048 http://www.ebi.ac.uk/interpro/entry/IPR000048 InterPro IPR001696 http://www.ebi.ac.uk/interpro/entry/IPR001696 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR008052 http://www.ebi.ac.uk/interpro/entry/IPR008052 InterPro IPR010526 http://www.ebi.ac.uk/interpro/entry/IPR010526 InterPro IPR027359 http://www.ebi.ac.uk/interpro/entry/IPR027359 InterPro IPR028826 http://www.ebi.ac.uk/interpro/entry/IPR028826 Jabion 6329 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6329 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00215 http://www.genome.jp/dbget-bin/www_bget?H00215 KEGG_Disease H00743 http://www.genome.jp/dbget-bin/www_bget?H00743 KEGG_Disease H00744 http://www.genome.jp/dbget-bin/www_bget?H00744 KEGG_Disease H00745 http://www.genome.jp/dbget-bin/www_bget?H00745 KEGG_Disease H00746 http://www.genome.jp/dbget-bin/www_bget?H00746 KEGG_Disease H00770 http://www.genome.jp/dbget-bin/www_bget?H00770 KEGG_Gene hsa:6329 http://www.genome.jp/dbget-bin/www_bget?hsa:6329 KEGG_Orthology KO:K04837 http://www.genome.jp/dbget-bin/www_bget?KO:K04837 MIM 168300 http://www.ncbi.nlm.nih.gov/omim/168300 MIM 170500 http://www.ncbi.nlm.nih.gov/omim/170500 MIM 603967 http://www.ncbi.nlm.nih.gov/omim/603967 MIM 608390 http://www.ncbi.nlm.nih.gov/omim/608390 MIM 613345 http://www.ncbi.nlm.nih.gov/omim/613345 MIM 614198 http://www.ncbi.nlm.nih.gov/omim/614198 Orphanet 681 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=681 Orphanet 682 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=682 Orphanet 684 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=684 Orphanet 98913 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=98913 Orphanet 99734 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=99734 Orphanet 99735 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=99735 Orphanet 99736 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=99736 OrthoDB EOG091G00FK http://cegg.unige.ch/orthodb/results?searchtext=EOG091G00FK PANTHER PTHR10037:SF223 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10037:SF223 PRINTS PR00170 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00170 PRINTS PR01665 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01665 PROSITE PS50096 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50096 PSORT swissprot:SCN4A_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SCN4A_HUMAN PSORT-B swissprot:SCN4A_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SCN4A_HUMAN PSORT2 swissprot:SCN4A_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SCN4A_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF06512 http://pfam.xfam.org/family/PF06512 PharmGKB PA35006 http://www.pharmgkb.org/do/serve?objId=PA35006&objCls=Gene Phobius swissprot:SCN4A_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SCN4A_HUMAN PhylomeDB P35499 http://phylomedb.org/?seqid=P35499 ProteinModelPortal P35499 http://www.proteinmodelportal.org/query/uniprot/P35499 PubMed 10218481 http://www.ncbi.nlm.nih.gov/pubmed/10218481 PubMed 10369308 http://www.ncbi.nlm.nih.gov/pubmed/10369308 PubMed 10599760 http://www.ncbi.nlm.nih.gov/pubmed/10599760 PubMed 10727489 http://www.ncbi.nlm.nih.gov/pubmed/10727489 PubMed 10851391 http://www.ncbi.nlm.nih.gov/pubmed/10851391 PubMed 10944223 http://www.ncbi.nlm.nih.gov/pubmed/10944223 PubMed 11558801 http://www.ncbi.nlm.nih.gov/pubmed/11558801 PubMed 11591859 http://www.ncbi.nlm.nih.gov/pubmed/11591859 PubMed 12766226 http://www.ncbi.nlm.nih.gov/pubmed/12766226 PubMed 1310396 http://www.ncbi.nlm.nih.gov/pubmed/1310396 PubMed 1310898 http://www.ncbi.nlm.nih.gov/pubmed/1310898 PubMed 1315496 http://www.ncbi.nlm.nih.gov/pubmed/1315496 PubMed 1316765 http://www.ncbi.nlm.nih.gov/pubmed/1316765 PubMed 1338909 http://www.ncbi.nlm.nih.gov/pubmed/1338909 PubMed 1339144 http://www.ncbi.nlm.nih.gov/pubmed/1339144 PubMed 15318338 http://www.ncbi.nlm.nih.gov/pubmed/15318338 PubMed 15596759 http://www.ncbi.nlm.nih.gov/pubmed/15596759 PubMed 15790667 http://www.ncbi.nlm.nih.gov/pubmed/15790667 PubMed 1659668 http://www.ncbi.nlm.nih.gov/pubmed/1659668 PubMed 1659948 http://www.ncbi.nlm.nih.gov/pubmed/1659948 PubMed 16625196 http://www.ncbi.nlm.nih.gov/pubmed/16625196 PubMed 16786525 http://www.ncbi.nlm.nih.gov/pubmed/16786525 PubMed 16832098 http://www.ncbi.nlm.nih.gov/pubmed/16832098 PubMed 16890191 http://www.ncbi.nlm.nih.gov/pubmed/16890191 PubMed 17212350 http://www.ncbi.nlm.nih.gov/pubmed/17212350 PubMed 17898326 http://www.ncbi.nlm.nih.gov/pubmed/17898326 PubMed 17998485 http://www.ncbi.nlm.nih.gov/pubmed/17998485 PubMed 18046642 http://www.ncbi.nlm.nih.gov/pubmed/18046642 PubMed 18162704 http://www.ncbi.nlm.nih.gov/pubmed/18162704 PubMed 18166706 http://www.ncbi.nlm.nih.gov/pubmed/18166706 PubMed 18203179 http://www.ncbi.nlm.nih.gov/pubmed/18203179 PubMed 18337100 http://www.ncbi.nlm.nih.gov/pubmed/18337100 PubMed 18690054 http://www.ncbi.nlm.nih.gov/pubmed/18690054 PubMed 19015483 http://www.ncbi.nlm.nih.gov/pubmed/19015483 PubMed 19077043 http://www.ncbi.nlm.nih.gov/pubmed/19077043 PubMed 19118277 http://www.ncbi.nlm.nih.gov/pubmed/19118277 PubMed 19347921 http://www.ncbi.nlm.nih.gov/pubmed/19347921 PubMed 20076800 http://www.ncbi.nlm.nih.gov/pubmed/20076800 PubMed 20522878 http://www.ncbi.nlm.nih.gov/pubmed/20522878 PubMed 21043388 http://www.ncbi.nlm.nih.gov/pubmed/21043388 PubMed 24549961 http://www.ncbi.nlm.nih.gov/pubmed/24549961 PubMed 25660391 http://www.ncbi.nlm.nih.gov/pubmed/25660391 PubMed 25707578 http://www.ncbi.nlm.nih.gov/pubmed/25707578 PubMed 26659129 http://www.ncbi.nlm.nih.gov/pubmed/26659129 PubMed 26700687 http://www.ncbi.nlm.nih.gov/pubmed/26700687 PubMed 27535533 http://www.ncbi.nlm.nih.gov/pubmed/27535533 PubMed 7695243 http://www.ncbi.nlm.nih.gov/pubmed/7695243 PubMed 8058156 http://www.ncbi.nlm.nih.gov/pubmed/8058156 PubMed 8242056 http://www.ncbi.nlm.nih.gov/pubmed/8242056 PubMed 8308722 http://www.ncbi.nlm.nih.gov/pubmed/8308722 PubMed 8388676 http://www.ncbi.nlm.nih.gov/pubmed/8388676 PubMed 8580427 http://www.ncbi.nlm.nih.gov/pubmed/8580427 PubMed 9266738 http://www.ncbi.nlm.nih.gov/pubmed/9266738 PubMed 9392583 http://www.ncbi.nlm.nih.gov/pubmed/9392583 Reactome R-HSA-445095 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-445095 Reactome R-HSA-5576892 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576892 RefSeq NP_000325 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000325 STRING 9606.ENSP00000396320 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000396320&targetmode=cogs TCDB 1.A.1.10 http://www.tcdb.org/search/result.php?tc=1.A.1.10 UCSC uc002jds http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002jds&org=rat UniGene Hs.46038 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.46038 UniProtKB SCN4A_HUMAN http://www.uniprot.org/uniprot/SCN4A_HUMAN UniProtKB-AC P35499 http://www.uniprot.org/uniprot/P35499 charge swissprot:SCN4A_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SCN4A_HUMAN eggNOG COG1226 http://eggnogapi.embl.de/nog_data/html/tree/COG1226 eggNOG ENOG410INF8 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410INF8 epestfind swissprot:SCN4A_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SCN4A_HUMAN garnier swissprot:SCN4A_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SCN4A_HUMAN helixturnhelix swissprot:SCN4A_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SCN4A_HUMAN hmoment swissprot:SCN4A_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SCN4A_HUMAN iep swissprot:SCN4A_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SCN4A_HUMAN inforesidue swissprot:SCN4A_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SCN4A_HUMAN neXtProt NX_P35499 http://www.nextprot.org/db/entry/NX_P35499 octanol swissprot:SCN4A_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SCN4A_HUMAN pepcoil swissprot:SCN4A_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SCN4A_HUMAN pepdigest swissprot:SCN4A_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SCN4A_HUMAN pepinfo swissprot:SCN4A_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SCN4A_HUMAN pepnet swissprot:SCN4A_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SCN4A_HUMAN pepstats swissprot:SCN4A_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SCN4A_HUMAN pepwheel swissprot:SCN4A_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SCN4A_HUMAN pepwindow swissprot:SCN4A_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SCN4A_HUMAN sigcleave swissprot:SCN4A_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SCN4A_HUMAN ## Database ID URL or Descriptions # AltName TOM7_HUMAN Translocase of outer membrane 7 kDa subunit homolog # BioGrid 120030 18 # ChiTaRS TOMM7 human # Ensembl ENST00000358435 ENSP00000351214; ENSG00000196683 # ExpressionAtlas Q9P0U1 baseline and differential # FUNCTION TOM7_HUMAN Required for assembly and stability of the TOM complex. Positive regulator of PARK2 translocation to damaged mitochondria. Acts probably by stabilizing PINK1 on the outer membrane of depolarized mitochondria. {ECO 0000269|PubMed 18331822, ECO 0000269|PubMed 24270810}. # GO_component GO:0005739 mitochondrion; IDA:BHF-UCL. # GO_component GO:0005741 mitochondrial outer membrane; TAS:Reactome. # GO_component GO:0005742 mitochondrial outer membrane translocase complex; IDA:BHF-UCL. # GO_component GO:0031307 integral component of mitochondrial outer membrane; IBA:GO_Central. # GO_function GO:0008320 protein transmembrane transporter activity; TAS:BHF-UCL. # GO_process GO:0006626 protein targeting to mitochondrion; TAS:BHF-UCL. # GO_process GO:0016236 macroautophagy; TAS:Reactome. # GO_process GO:0030150 protein import into mitochondrial matrix; IBA:GO_Central. # GO_process GO:0031647 regulation of protein stability; IMP:ParkinsonsUK-UCL. # GO_process GO:0045040 protein import into mitochondrial outer membrane; IBA:GO_Central. # GO_process GO:0098779 mitophagy in response to mitochondrial depolarization; IMP:ParkinsonsUK-UCL. # GO_process GO:1903955 positive regulation of protein targeting to mitochondrion; IMP:ParkinsonsUK-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005739 mitochondrion # GOslim_component GO:0043234 protein complex # GOslim_function GO:0008565 protein transporter activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006605 protein targeting # GOslim_process GO:0006914 autophagy # GOslim_process GO:0007005 mitochondrion organization # GOslim_process GO:0008150 biological_process # GOslim_process GO:0055085 transmembrane transport # GOslim_process GO:0061024 membrane organization # Genevisible Q9P0U1 HS # HGNC HGNC:21648 TOMM7 # INTERACTION TOM7_HUMAN Q9NS69 TOMM22; NbExp=2; IntAct=EBI-1180558, EBI-1047508; # IntAct Q9P0U1 2 # InterPro IPR012621 Tom7 # MIM 607980 gene # Organism TOM7_HUMAN Homo sapiens (Human) # Pfam PF08038 Tom7 # Proteomes UP000005640 Chromosome 7 # Reactome R-HSA-1268020 Mitochondrial protein import # Reactome R-HSA-5205685 Pink/Parkin Mediated Mitophagy # RecName TOM7_HUMAN Mitochondrial import receptor subunit TOM7 homolog # RefSeq NP_061932 NM_019059.3 # SIMILARITY Belongs to the Tom7 family. {ECO 0000305}. # SUBCELLULAR LOCATION TOM7_HUMAN Mitochondrion outer membrane {ECO 0000269|PubMed 12198123}; Single-pass membrane protein {ECO 0000269|PubMed 12198123}. # SUBUNIT TOM7_HUMAN Forms part of the preprotein translocase complex of the outer mitochondrial membrane (TOM complex) which consists of at least 7 different proteins (TOMM5, TOMM6, TOMM7, TOMM20, TOMM22, TOMM40 and TOMM70). {ECO 0000269|PubMed 12198123, ECO 0000269|PubMed 18331822}. # UCSC uc003svk human # eggNOG ENOG41123F4 LUCA # eggNOG KOG4449 Eukaryota BLAST swissprot:TOM7_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:TOM7_HUMAN BioCyc ZFISH:G66-32949-MONOMER http://biocyc.org/getid?id=ZFISH:G66-32949-MONOMER COXPRESdb 54543 http://coxpresdb.jp/data/gene/54543.shtml CleanEx HS_TOMM7 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_TOMM7 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1016/j.bbrc.2008.02.150 http://dx.doi.org/10.1016/j.bbrc.2008.02.150 DOI 10.1038/nature12748 http://dx.doi.org/10.1038/nature12748 DOI 10.1073/pnas.1210303109 http://dx.doi.org/10.1073/pnas.1210303109 DOI 10.1073/pnas.160270997 http://dx.doi.org/10.1073/pnas.160270997 DOI 10.1074/jbc.M205613200 http://dx.doi.org/10.1074/jbc.M205613200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AF150733 http://www.ebi.ac.uk/ena/data/view/AF150733 EMBL AJ011007 http://www.ebi.ac.uk/ena/data/view/AJ011007 EMBL BC001732 http://www.ebi.ac.uk/ena/data/view/BC001732 Ensembl ENST00000358435 http://www.ensembl.org/id/ENST00000358435 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005741 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005741 GO_component GO:0005742 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005742 GO_component GO:0031307 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031307 GO_function GO:0008320 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008320 GO_process GO:0006626 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006626 GO_process GO:0016236 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016236 GO_process GO:0030150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030150 GO_process GO:0031647 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031647 GO_process GO:0045040 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045040 GO_process GO:0098779 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0098779 GO_process GO:1903955 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903955 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006605 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006605 GOslim_process GO:0006914 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006914 GOslim_process GO:0007005 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007005 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GOslim_process GO:0061024 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061024 GeneCards TOMM7 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=TOMM7 GeneID 54543 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=54543 GeneTree ENSGT00390000014833 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000014833 HGNC HGNC:21648 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:21648 HOVERGEN HBG065915 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG065915&db=HOVERGEN InParanoid Q9P0U1 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9P0U1 IntAct Q9P0U1 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9P0U1* InterPro IPR012621 http://www.ebi.ac.uk/interpro/entry/IPR012621 Jabion 54543 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=54543 KEGG_Gene hsa:54543 http://www.genome.jp/dbget-bin/www_bget?hsa:54543 MIM 607980 http://www.ncbi.nlm.nih.gov/omim/607980 PSORT swissprot:TOM7_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:TOM7_HUMAN PSORT-B swissprot:TOM7_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:TOM7_HUMAN PSORT2 swissprot:TOM7_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:TOM7_HUMAN Pfam PF08038 http://pfam.xfam.org/family/PF08038 PharmGKB PA134864325 http://www.pharmgkb.org/do/serve?objId=PA134864325&objCls=Gene Phobius swissprot:TOM7_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:TOM7_HUMAN PhylomeDB Q9P0U1 http://phylomedb.org/?seqid=Q9P0U1 ProteinModelPortal Q9P0U1 http://www.proteinmodelportal.org/query/uniprot/Q9P0U1 PubMed 10647823 http://www.ncbi.nlm.nih.gov/pubmed/10647823 PubMed 10931946 http://www.ncbi.nlm.nih.gov/pubmed/10931946 PubMed 12198123 http://www.ncbi.nlm.nih.gov/pubmed/12198123 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 18331822 http://www.ncbi.nlm.nih.gov/pubmed/18331822 PubMed 22814378 http://www.ncbi.nlm.nih.gov/pubmed/22814378 PubMed 24270810 http://www.ncbi.nlm.nih.gov/pubmed/24270810 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 Reactome R-HSA-1268020 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1268020 Reactome R-HSA-5205685 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5205685 RefSeq NP_061932 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_061932 STRING 9606.ENSP00000351214 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000351214&targetmode=cogs UCSC uc003svk http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003svk&org=rat UniGene Hs.112318 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.112318 UniProtKB TOM7_HUMAN http://www.uniprot.org/uniprot/TOM7_HUMAN UniProtKB-AC Q9P0U1 http://www.uniprot.org/uniprot/Q9P0U1 charge swissprot:TOM7_HUMAN http://rest.g-language.org/emboss/charge/swissprot:TOM7_HUMAN eggNOG ENOG41123F4 http://eggnogapi.embl.de/nog_data/html/tree/ENOG41123F4 eggNOG KOG4449 http://eggnogapi.embl.de/nog_data/html/tree/KOG4449 epestfind swissprot:TOM7_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:TOM7_HUMAN garnier swissprot:TOM7_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:TOM7_HUMAN helixturnhelix swissprot:TOM7_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:TOM7_HUMAN hmoment swissprot:TOM7_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:TOM7_HUMAN iep swissprot:TOM7_HUMAN http://rest.g-language.org/emboss/iep/swissprot:TOM7_HUMAN inforesidue swissprot:TOM7_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:TOM7_HUMAN neXtProt NX_Q9P0U1 http://www.nextprot.org/db/entry/NX_Q9P0U1 octanol swissprot:TOM7_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:TOM7_HUMAN pepcoil swissprot:TOM7_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:TOM7_HUMAN pepdigest swissprot:TOM7_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:TOM7_HUMAN pepinfo swissprot:TOM7_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:TOM7_HUMAN pepnet swissprot:TOM7_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:TOM7_HUMAN pepstats swissprot:TOM7_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:TOM7_HUMAN pepwheel swissprot:TOM7_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:TOM7_HUMAN pepwindow swissprot:TOM7_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:TOM7_HUMAN sigcleave swissprot:TOM7_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:TOM7_HUMAN ## Database ID URL or Descriptions # AltName SC6A3_HUMAN Solute carrier family 6 member 3 # BioGrid 112422 13 # DISEASE SC6A3_HUMAN Parkinsonism-dystonia infantile (PKDYS) [MIM 613135] A neurodegenerative disorder characterized by infantile onset of parkinsonism and dystonia. Other neurologic features include global developmental delay, bradykinesia and pyramidal tract signs. {ECO 0000269|PubMed 19478460}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DrugBank DB00182 Amphetamine # DrugBank DB00191 Phentermine # DrugBank DB00215 Citalopram # DrugBank DB00245 Benzatropine # DrugBank DB00285 Venlafaxine # DrugBank DB00289 Atomoxetine # DrugBank DB00370 Mirtazapine # DrugBank DB00408 Loxapine # DrugBank DB00422 Methylphenidate # DrugBank DB00454 Pethidine # DrugBank DB00458 Imipramine # DrugBank DB00476 Duloxetine # DrugBank DB00543 Amoxapine # DrugBank DB00579 Mazindol # DrugBank DB00721 Procaine # DrugBank DB00726 Trimipramine # DrugBank DB00745 Modafinil # DrugBank DB00830 Phenmetrazine # DrugBank DB00852 Pseudoephedrine # DrugBank DB00865 Benzphetamine # DrugBank DB00907 Cocaine # DrugBank DB00937 Diethylpropion # DrugBank DB00988 Dopamine # DrugBank DB01104 Sertraline # DrugBank DB01105 Sibutramine # DrugBank DB01114 Chlorphenamine # DrugBank DB01146 Diphenylpyraline # DrugBank DB01149 Nefazodone # DrugBank DB01156 Bupropion # DrugBank DB01161 Chloroprocaine # DrugBank DB01175 Escitalopram # DrugBank DB01255 Lisdexamfetamine # DrugBank DB01363 Ephedra # DrugBank DB01463 Fencamfamine # DrugBank DB01576 Dextroamphetamine # DrugBank DB01577 Methamphetamine # DrugBank DB06148 Mianserin # DrugBank DB06413 Armodafinil # DrugBank DB06701 Dexmethylphenidate # DrugBank DB08824 Ioflupane I 123 # Ensembl ENST00000270349 ENSP00000270349; ENSG00000142319 # Ensembl ENST00000621716 ENSP00000479597; ENSG00000276996 # FUNCTION SC6A3_HUMAN Amine transporter. Terminates the action of dopamine by its high affinity sodium-dependent reuptake into presynaptic terminals. {ECO 0000269|PubMed 1406597, ECO 0000269|PubMed 15505207, ECO 0000269|PubMed 8302271}. # GO_component GO:0005737 cytoplasm; TAS:ProtInc. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0009986 cell surface; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; TAS:ProtInc. # GO_component GO:0016600 flotillin complex; IDA:UniProtKB. # GO_component GO:0030424 axon; IDA:UniProtKB. # GO_component GO:0043005 neuron projection; IDA:ParkinsonsUK-UCL. # GO_component GO:0043025 neuronal cell body; IDA:UniProtKB. # GO_component GO:0045121 membrane raft; IDA:ParkinsonsUK-UCL. # GO_component GO:0098793 presynapse; IEA:GOC. # GO_function GO:0005329 dopamine transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0008144 drug binding; IEA:Ensembl. # GO_function GO:0008504 monoamine transmembrane transporter activity; IDA:MGI. # GO_function GO:0035240 dopamine binding; IEA:Ensembl. # GO_function GO:0046872 metal ion binding; IEA:UniProtKB-KW. # GO_function SC6A3_HUMAN GO 0005330 dopamine sodium symporter activity; IBA GO_Central. # GO_process GO:0007568 aging; IEA:Ensembl. # GO_process GO:0007595 lactation; IEA:Ensembl. # GO_process GO:0007608 sensory perception of smell; IEA:Ensembl. # GO_process GO:0007626 locomotory behavior; IEA:Ensembl. # GO_process GO:0010039 response to iron ion; IEA:Ensembl. # GO_process GO:0015844 monoamine transport; IDA:MGI. # GO_process GO:0015872 dopamine transport; IDA:UniProtKB. # GO_process GO:0021984 adenohypophysis development; IEA:Ensembl. # GO_process GO:0035094 response to nicotine; IEA:Ensembl. # GO_process GO:0040018 positive regulation of multicellular organism growth; IEA:Ensembl. # GO_process GO:0042053 regulation of dopamine metabolic process; IEA:Ensembl. # GO_process GO:0042136 neurotransmitter biosynthetic process; TAS:Reactome. # GO_process GO:0042220 response to cocaine; IEA:Ensembl. # GO_process GO:0042416 dopamine biosynthetic process; IEA:Ensembl. # GO_process GO:0042420 dopamine catabolic process; IEA:Ensembl. # GO_process GO:0042493 response to drug; IEA:Ensembl. # GO_process GO:0045471 response to ethanol; IEA:Ensembl. # GO_process GO:0051583 dopamine uptake involved in synaptic transmission; IBA:GO_Central. # GO_process GO:0051591 response to cAMP; IEA:Ensembl. # GO_process GO:0060134 prepulse inhibition; IEA:Ensembl. # GO_process GO:0090494 dopamine uptake; IDA:ParkinsonsUK-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0007568 aging # GOslim_process GO:0008150 biological_process # GOslim_process GO:0009056 catabolic process # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0050877 neurological system process # Genevisible Q01959 HS # HGNC HGNC:11049 SLC6A3 # INTERACTION SC6A3_HUMAN P14416 DRD2; NbExp=4; IntAct=EBI-6661445, EBI-2928178; P37840 SNCA; NbExp=3; IntAct=EBI-6661445, EBI-985879; # IntAct Q01959 4 # InterPro IPR000175 Na/ntran_symport # InterPro IPR002436 Na/ntran_symport_dopamine # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02001 Solute carrier family # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04728 Dopaminergic synapse # KEGG_Pathway ko05012 Parkinson's disease # KEGG_Pathway ko05030 Cocaine addiction # KEGG_Pathway ko05031 Amphetamine addiction # KEGG_Pathway ko05034 Alcoholism # MIM 126455 gene # MIM 613135 phenotype # MISCELLANEOUS SC6A3_HUMAN This protein is the target of psychomotor stimulants such as amphetamines or cocaine. # Organism SC6A3_HUMAN Homo sapiens (Human) # Orphanet 238455 Infantile dystonia-parkinsonism # PANTHER PTHR11616 PTHR11616 # PIR A48980 A48980 # PIR I57937 I57937 # PIR I84455 I84455 # PRINTS PR00176 NANEUSMPORT # PRINTS PR01202 DOPTRANSPORT # PROSITE PS00610 NA_NEUROTRAN_SYMP_1 # PROSITE PS00754 NA_NEUROTRAN_SYMP_2 # PROSITE PS50267 NA_NEUROTRAN_SYMP_3 # Pfam PF00209 SNF # Proteomes UP000005640 Chromosome 5 # Reactome R-HSA-379401 Dopamine clearance from the synaptic cleft # Reactome R-HSA-442660 Na+/Cl- dependent neurotransmitter transporters # RecName SC6A3_HUMAN Sodium-dependent dopamine transporter # RefSeq NP_001035 NM_001044.4 # SIMILARITY Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A3 subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION SC6A3_HUMAN Cell membrane {ECO 0000269|PubMed 1406597, ECO 0000269|PubMed 15505207, ECO 0000269|PubMed 8302271}; Multi- pass membrane protein {ECO 0000269|PubMed 15505207}. # SUBUNIT SC6A3_HUMAN Homooligomer; disulfide-linked (Ref.14). Interacts with PRKCABP and TGFB1I1 (PubMed 11343649, PubMed 12177201). Interacts (via N-terminus) with SYNGR3 (via N-terminus). Interacts with SLC18A2. Interacts with TOR1A (ATP-bound); TOR1A regulates SLC6A3 subcellular location (By similarity). {ECO 0000250|UniProtKB Q61327, ECO 0000269|PubMed 11343649, ECO 0000269|PubMed 12177201, ECO 0000269|PubMed 15505207, ECO 0000269|Ref.14}. # TCDB 2.A.22.1:the neurotransmitter sodium symporter (nss) family # TISSUE SPECIFICITY Highly expressed in substantia nigra. {ECO:0000269|PubMed 7637582}. # UCSC uc003jck human # WEB RESOURCE SC6A3_HUMAN Name=NIEHS-SNPs; URL="http //egp.gs.washington.edu/data/slc6a3/"; # WEB RESOURCE SC6A3_HUMAN Name=Wikipedia; Note=Dopamine transporter entry; URL="https //en.wikipedia.org/wiki/Dopamine_transporter"; # eggNOG COG0733 LUCA # eggNOG KOG3659 Eukaryota BLAST swissprot:SC6A3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SC6A3_HUMAN BioCyc ZFISH:ENSG00000142319-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000142319-MONOMER COXPRESdb 6531 http://coxpresdb.jp/data/gene/6531.shtml CleanEx HS_SLC6A3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC6A3 DIP DIP-41827N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-41827N DOI 10.1002/1096-8628(2001)9999:9999<::AID-AJMG1161>3.0.CO http://dx.doi.org/10.1002/1096-8628(2001)9999:9999<::AID-AJMG1161>3.0.CO DOI 10.1016/0169-328X(92)90165-8 http://dx.doi.org/10.1016/0169-328X(92)90165-8 DOI 10.1016/0169-328X(95)00018-N http://dx.doi.org/10.1016/0169-328X(95)00018-N DOI 10.1016/S0378-1119(97)00131-5 http://dx.doi.org/10.1016/S0378-1119(97)00131-5 DOI 10.1016/S0896-6273(01)00267-7 http://dx.doi.org/10.1016/S0896-6273(01)00267-7 DOI 10.1038/10290 http://dx.doi.org/10.1038/10290 DOI 10.1038/nature09629 http://dx.doi.org/10.1038/nature09629 DOI 10.1038/sj.mp.4000701 http://dx.doi.org/10.1038/sj.mp.4000701 DOI 10.1073/pnas.0308088101 http://dx.doi.org/10.1073/pnas.0308088101 DOI 10.1073/pnas.89.15.7095 http://dx.doi.org/10.1073/pnas.89.15.7095 DOI 10.1093/molbev/msm219 http://dx.doi.org/10.1093/molbev/msm219 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1133427 http://dx.doi.org/10.1126/science.1133427 DOI 10.1172/JCI39060 http://dx.doi.org/10.1172/JCI39060 DrugBank DB00182 http://www.drugbank.ca/drugs/DB00182 DrugBank DB00191 http://www.drugbank.ca/drugs/DB00191 DrugBank DB00215 http://www.drugbank.ca/drugs/DB00215 DrugBank DB00245 http://www.drugbank.ca/drugs/DB00245 DrugBank DB00285 http://www.drugbank.ca/drugs/DB00285 DrugBank DB00289 http://www.drugbank.ca/drugs/DB00289 DrugBank DB00370 http://www.drugbank.ca/drugs/DB00370 DrugBank DB00408 http://www.drugbank.ca/drugs/DB00408 DrugBank DB00422 http://www.drugbank.ca/drugs/DB00422 DrugBank DB00454 http://www.drugbank.ca/drugs/DB00454 DrugBank DB00458 http://www.drugbank.ca/drugs/DB00458 DrugBank DB00476 http://www.drugbank.ca/drugs/DB00476 DrugBank DB00543 http://www.drugbank.ca/drugs/DB00543 DrugBank DB00579 http://www.drugbank.ca/drugs/DB00579 DrugBank DB00721 http://www.drugbank.ca/drugs/DB00721 DrugBank DB00726 http://www.drugbank.ca/drugs/DB00726 DrugBank DB00745 http://www.drugbank.ca/drugs/DB00745 DrugBank DB00830 http://www.drugbank.ca/drugs/DB00830 DrugBank DB00852 http://www.drugbank.ca/drugs/DB00852 DrugBank DB00865 http://www.drugbank.ca/drugs/DB00865 DrugBank DB00907 http://www.drugbank.ca/drugs/DB00907 DrugBank DB00937 http://www.drugbank.ca/drugs/DB00937 DrugBank DB00988 http://www.drugbank.ca/drugs/DB00988 DrugBank DB01104 http://www.drugbank.ca/drugs/DB01104 DrugBank DB01105 http://www.drugbank.ca/drugs/DB01105 DrugBank DB01114 http://www.drugbank.ca/drugs/DB01114 DrugBank DB01146 http://www.drugbank.ca/drugs/DB01146 DrugBank DB01149 http://www.drugbank.ca/drugs/DB01149 DrugBank DB01156 http://www.drugbank.ca/drugs/DB01156 DrugBank DB01161 http://www.drugbank.ca/drugs/DB01161 DrugBank DB01175 http://www.drugbank.ca/drugs/DB01175 DrugBank DB01255 http://www.drugbank.ca/drugs/DB01255 DrugBank DB01363 http://www.drugbank.ca/drugs/DB01363 DrugBank DB01463 http://www.drugbank.ca/drugs/DB01463 DrugBank DB01576 http://www.drugbank.ca/drugs/DB01576 DrugBank DB01577 http://www.drugbank.ca/drugs/DB01577 DrugBank DB06148 http://www.drugbank.ca/drugs/DB06148 DrugBank DB06413 http://www.drugbank.ca/drugs/DB06413 DrugBank DB06701 http://www.drugbank.ca/drugs/DB06701 DrugBank DB08824 http://www.drugbank.ca/drugs/DB08824 EMBL AF119117 http://www.ebi.ac.uk/ena/data/view/AF119117 EMBL AF306558 http://www.ebi.ac.uk/ena/data/view/AF306558 EMBL AF306559 http://www.ebi.ac.uk/ena/data/view/AF306559 EMBL AF306560 http://www.ebi.ac.uk/ena/data/view/AF306560 EMBL AF306561 http://www.ebi.ac.uk/ena/data/view/AF306561 EMBL AF306562 http://www.ebi.ac.uk/ena/data/view/AF306562 EMBL AF306563 http://www.ebi.ac.uk/ena/data/view/AF306563 EMBL AF306564 http://www.ebi.ac.uk/ena/data/view/AF306564 EMBL AF321320 http://www.ebi.ac.uk/ena/data/view/AF321320 EMBL AF321321 http://www.ebi.ac.uk/ena/data/view/AF321321 EMBL AY623110 http://www.ebi.ac.uk/ena/data/view/AY623110 EMBL BC132977 http://www.ebi.ac.uk/ena/data/view/BC132977 EMBL BC133003 http://www.ebi.ac.uk/ena/data/view/BC133003 EMBL CH471102 http://www.ebi.ac.uk/ena/data/view/CH471102 EMBL D88570 http://www.ebi.ac.uk/ena/data/view/D88570 EMBL EF174603 http://www.ebi.ac.uk/ena/data/view/EF174603 EMBL L24178 http://www.ebi.ac.uk/ena/data/view/L24178 EMBL M95167 http://www.ebi.ac.uk/ena/data/view/M95167 EMBL M96670 http://www.ebi.ac.uk/ena/data/view/M96670 EMBL S44626 http://www.ebi.ac.uk/ena/data/view/S44626 EMBL S46955 http://www.ebi.ac.uk/ena/data/view/S46955 Ensembl ENST00000270349 http://www.ensembl.org/id/ENST00000270349 Ensembl ENST00000621716 http://www.ensembl.org/id/ENST00000621716 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0009986 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009986 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0016600 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016600 GO_component GO:0030424 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030424 GO_component GO:0043005 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043005 GO_component GO:0043025 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043025 GO_component GO:0045121 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045121 GO_component GO:0098793 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0098793 GO_function GO:0005329 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005329 GO_function GO:0005330 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005330 GO_function GO:0008144 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008144 GO_function GO:0008504 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008504 GO_function GO:0035240 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035240 GO_function GO:0046872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046872 GO_process GO:0007568 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007568 GO_process GO:0007595 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007595 GO_process GO:0007608 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007608 GO_process GO:0007626 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007626 GO_process GO:0010039 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010039 GO_process GO:0015844 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015844 GO_process GO:0015872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015872 GO_process GO:0021984 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021984 GO_process GO:0035094 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035094 GO_process GO:0040018 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0040018 GO_process GO:0042053 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042053 GO_process GO:0042136 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042136 GO_process GO:0042220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042220 GO_process GO:0042416 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042416 GO_process GO:0042420 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042420 GO_process GO:0042493 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042493 GO_process GO:0045471 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045471 GO_process GO:0051583 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051583 GO_process GO:0051591 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051591 GO_process GO:0060134 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060134 GO_process GO:0090494 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090494 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007568 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007568 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0009056 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009056 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GeneCards SLC6A3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC6A3 GeneID 6531 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6531 GeneTree ENSGT00760000118857 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118857 HGNC HGNC:11049 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11049 HOGENOM HOG000116406 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000116406&db=HOGENOM6 HOVERGEN HBG071421 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG071421&db=HOVERGEN HPA CAB016249 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB016249 HPA HPA013602 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA013602 InParanoid Q01959 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q01959 IntAct Q01959 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q01959* InterPro IPR000175 http://www.ebi.ac.uk/interpro/entry/IPR000175 InterPro IPR002436 http://www.ebi.ac.uk/interpro/entry/IPR002436 Jabion 6531 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6531 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:6531 http://www.genome.jp/dbget-bin/www_bget?hsa:6531 KEGG_Orthology KO:K05036 http://www.genome.jp/dbget-bin/www_bget?KO:K05036 KEGG_Pathway ko04728 http://www.genome.jp/kegg-bin/show_pathway?ko04728 KEGG_Pathway ko05012 http://www.genome.jp/kegg-bin/show_pathway?ko05012 KEGG_Pathway ko05030 http://www.genome.jp/kegg-bin/show_pathway?ko05030 KEGG_Pathway ko05031 http://www.genome.jp/kegg-bin/show_pathway?ko05031 KEGG_Pathway ko05034 http://www.genome.jp/kegg-bin/show_pathway?ko05034 MIM 126455 http://www.ncbi.nlm.nih.gov/omim/126455 MIM 613135 http://www.ncbi.nlm.nih.gov/omim/613135 MINT MINT-576917 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-576917 OMA YAAYKFC http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=YAAYKFC Orphanet 238455 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=238455 OrthoDB EOG091G08PX http://cegg.unige.ch/orthodb/results?searchtext=EOG091G08PX PANTHER PTHR11616 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11616 PRINTS PR00176 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00176 PRINTS PR01202 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01202 PROSITE PS00610 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00610 PROSITE PS00754 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00754 PROSITE PS50267 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50267 PSORT swissprot:SC6A3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SC6A3_HUMAN PSORT-B swissprot:SC6A3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SC6A3_HUMAN PSORT2 swissprot:SC6A3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SC6A3_HUMAN Pfam PF00209 http://pfam.xfam.org/family/PF00209 PharmGKB PA311 http://www.pharmgkb.org/do/serve?objId=PA311&objCls=Gene Phobius swissprot:SC6A3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SC6A3_HUMAN PhylomeDB Q01959 http://phylomedb.org/?seqid=Q01959 ProteinModelPortal Q01959 http://www.proteinmodelportal.org/query/uniprot/Q01959 PubMed 10391209 http://www.ncbi.nlm.nih.gov/pubmed/10391209 PubMed 10889531 http://www.ncbi.nlm.nih.gov/pubmed/10889531 PubMed 11304827 http://www.ncbi.nlm.nih.gov/pubmed/11304827 PubMed 11343649 http://www.ncbi.nlm.nih.gov/pubmed/11343649 PubMed 12177201 http://www.ncbi.nlm.nih.gov/pubmed/12177201 PubMed 1353885 http://www.ncbi.nlm.nih.gov/pubmed/1353885 PubMed 1359373 http://www.ncbi.nlm.nih.gov/pubmed/1359373 PubMed 1406597 http://www.ncbi.nlm.nih.gov/pubmed/1406597 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15505207 http://www.ncbi.nlm.nih.gov/pubmed/15505207 PubMed 16959974 http://www.ncbi.nlm.nih.gov/pubmed/16959974 PubMed 17934207 http://www.ncbi.nlm.nih.gov/pubmed/17934207 PubMed 19478460 http://www.ncbi.nlm.nih.gov/pubmed/19478460 PubMed 21179162 http://www.ncbi.nlm.nih.gov/pubmed/21179162 PubMed 7637582 http://www.ncbi.nlm.nih.gov/pubmed/7637582 PubMed 8302271 http://www.ncbi.nlm.nih.gov/pubmed/8302271 PubMed 9300814 http://www.ncbi.nlm.nih.gov/pubmed/9300814 Reactome R-HSA-379401 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-379401 Reactome R-HSA-442660 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-442660 RefSeq NP_001035 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001035 SMR Q01959 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q01959 STRING 9606.ENSP00000270349 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000270349&targetmode=cogs TCDB 2.A.22.1 http://www.tcdb.org/search/result.php?tc=2.A.22.1 UCSC uc003jck http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003jck&org=rat UniGene Hs.406 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.406 UniProtKB SC6A3_HUMAN http://www.uniprot.org/uniprot/SC6A3_HUMAN UniProtKB-AC Q01959 http://www.uniprot.org/uniprot/Q01959 charge swissprot:SC6A3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SC6A3_HUMAN eggNOG COG0733 http://eggnogapi.embl.de/nog_data/html/tree/COG0733 eggNOG KOG3659 http://eggnogapi.embl.de/nog_data/html/tree/KOG3659 epestfind swissprot:SC6A3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SC6A3_HUMAN garnier swissprot:SC6A3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SC6A3_HUMAN helixturnhelix swissprot:SC6A3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SC6A3_HUMAN hmoment swissprot:SC6A3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SC6A3_HUMAN iep swissprot:SC6A3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SC6A3_HUMAN inforesidue swissprot:SC6A3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SC6A3_HUMAN neXtProt NX_Q01959 http://www.nextprot.org/db/entry/NX_Q01959 octanol swissprot:SC6A3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SC6A3_HUMAN pepcoil swissprot:SC6A3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SC6A3_HUMAN pepdigest swissprot:SC6A3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SC6A3_HUMAN pepinfo swissprot:SC6A3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SC6A3_HUMAN pepnet swissprot:SC6A3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SC6A3_HUMAN pepstats swissprot:SC6A3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SC6A3_HUMAN pepwheel swissprot:SC6A3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SC6A3_HUMAN pepwindow swissprot:SC6A3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SC6A3_HUMAN sigcleave swissprot:SC6A3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SC6A3_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS MFSD5_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q6N075-1; Sequence=Displayed; Name=2; IsoId=Q6N075-2; Sequence=VSP_046647; Note=No experimental confirmation available.; # AltName MFSD5_HUMAN Major facilitator superfamily domain-containing protein 5 # AltName MFSD5_HUMAN Molybdate transporter 2 homolog # BIOPHYSICOCHEMICAL PROPERTIES Kinetic parameters: KM=546 nM for molybdate (when expressed in yeast) {ECO 0000269|PubMed:21464289}; # BioGrid 124404 18 # CCDS CCDS53796 -. [Q6N075-2] # CCDS CCDS8851 -. [Q6N075-1] # Ensembl ENST00000329548 ENSP00000332624; ENSG00000182544. [Q6N075-1] # Ensembl ENST00000534842 ENSP00000442688; ENSG00000182544. [Q6N075-2] # ExpressionAtlas Q6N075 baseline and differential # FUNCTION MFSD5_HUMAN Mediates high-affinity intracellular uptake of the rare oligo-element molybdenum. {ECO 0000269|PubMed 21464289}. # GO_component GO:0005886 plasma membrane; IEA:UniProtKB-SubCell. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0015098 molybdate ion transmembrane transporter activity; IEA:InterPro. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # Genevisible Q6N075 HS # HGNC HGNC:28156 MFSD5 # INTERACTION MFSD5_HUMAN Q8N6L0 CCDC155; NbExp=3; IntAct=EBI-3920969, EBI-749265; Q96BA8 CREB3L1; NbExp=3; IntAct=EBI-3920969, EBI-6942903; # IntAct Q6N075 5 # InterPro IPR008509 MOT2/MFSD5 # InterPro IPR020846 MFS_dom # Organism MFSD5_HUMAN Homo sapiens (Human) # Pfam PF05631 MFS_5 # Proteomes UP000005640 Chromosome 12 # RecName MFSD5_HUMAN Molybdate-anion transporter # RefSeq NP_001164261 NM_001170790.1. [Q6N075-2] # RefSeq NP_116278 NM_032889.4. [Q6N075-1] # RefSeq XP_005269254 XM_005269197.1. [Q6N075-2] # RefSeq XP_005269255 XM_005269198.4. [Q6N075-1] # SEQUENCE CAUTION Sequence=BAC05108.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305}; Sequence=CAE45795.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the major facilitator superfamily. {ECO 0000305}. # SUBCELLULAR LOCATION MFSD5_HUMAN Cell membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # SUPFAM SSF103473 SSF103473 # TISSUE SPECIFICITY Expressed ubiquitously but at relatively higher levels in the olfactory bulb and the skeletal muscle. {ECO:0000269|PubMed 21044875}. # UCSC uc001sch human. [Q6N075-1] # eggNOG ENOG410XSP5 LUCA # eggNOG KOG4332 Eukaryota BLAST swissprot:MFSD5_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:MFSD5_HUMAN BioCyc ZFISH:G66-30923-MONOMER http://biocyc.org/getid?id=ZFISH:G66-30923-MONOMER COXPRESdb 84975 http://coxpresdb.jp/data/gene/84975.shtml CleanEx HS_MFSD5 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_MFSD5 DOI 10.1016/j.gene.2010.10.011 http://dx.doi.org/10.1016/j.gene.2010.10.011 DOI 10.1038/nature04569 http://dx.doi.org/10.1038/nature04569 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.1100700108 http://dx.doi.org/10.1073/pnas.1100700108 DOI 10.1093/dnares/12.2.117 http://dx.doi.org/10.1093/dnares/12.2.117 DOI 10.1101/gr.1293003 http://dx.doi.org/10.1101/gr.1293003 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 EMBL AC021072 http://www.ebi.ac.uk/ena/data/view/AC021072 EMBL AK074684 http://www.ebi.ac.uk/ena/data/view/AK074684 EMBL AK097576 http://www.ebi.ac.uk/ena/data/view/AK097576 EMBL AY358604 http://www.ebi.ac.uk/ena/data/view/AY358604 EMBL BC007703 http://www.ebi.ac.uk/ena/data/view/BC007703 EMBL BC067795 http://www.ebi.ac.uk/ena/data/view/BC067795 EMBL BX640649 http://www.ebi.ac.uk/ena/data/view/BX640649 EMBL CH471054 http://www.ebi.ac.uk/ena/data/view/CH471054 Ensembl ENST00000329548 http://www.ensembl.org/id/ENST00000329548 Ensembl ENST00000534842 http://www.ensembl.org/id/ENST00000534842 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0015098 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015098 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GeneCards MFSD5 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=MFSD5 GeneID 84975 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=84975 GeneTree ENSGT00390000012629 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000012629 HGNC HGNC:28156 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:28156 HOGENOM HOG000239662 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000239662&db=HOGENOM6 HOVERGEN HBG081970 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG081970&db=HOVERGEN HPA HPA039773 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA039773 InParanoid Q6N075 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q6N075 IntAct Q6N075 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q6N075* InterPro IPR008509 http://www.ebi.ac.uk/interpro/entry/IPR008509 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 84975 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=84975 KEGG_Gene hsa:84975 http://www.genome.jp/dbget-bin/www_bget?hsa:84975 MINT MINT-4724121 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-4724121 OMA QGRVIPE http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=QGRVIPE OrthoDB EOG091G0CEM http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0CEM PSORT swissprot:MFSD5_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:MFSD5_HUMAN PSORT-B swissprot:MFSD5_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:MFSD5_HUMAN PSORT2 swissprot:MFSD5_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:MFSD5_HUMAN Pfam PF05631 http://pfam.xfam.org/family/PF05631 PharmGKB PA142671466 http://www.pharmgkb.org/do/serve?objId=PA142671466&objCls=Gene Phobius swissprot:MFSD5_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:MFSD5_HUMAN PhylomeDB Q6N075 http://phylomedb.org/?seqid=Q6N075 ProteinModelPortal Q6N075 http://www.proteinmodelportal.org/query/uniprot/Q6N075 PubMed 12975309 http://www.ncbi.nlm.nih.gov/pubmed/12975309 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16303743 http://www.ncbi.nlm.nih.gov/pubmed/16303743 PubMed 16541075 http://www.ncbi.nlm.nih.gov/pubmed/16541075 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 PubMed 21044875 http://www.ncbi.nlm.nih.gov/pubmed/21044875 PubMed 21464289 http://www.ncbi.nlm.nih.gov/pubmed/21464289 RefSeq NP_001164261 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001164261 RefSeq NP_116278 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_116278 RefSeq XP_005269254 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005269254 RefSeq XP_005269255 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005269255 STRING 9606.ENSP00000442688 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000442688&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 UCSC uc001sch http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001sch&org=rat UniGene Hs.654660 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.654660 UniProtKB MFSD5_HUMAN http://www.uniprot.org/uniprot/MFSD5_HUMAN UniProtKB-AC Q6N075 http://www.uniprot.org/uniprot/Q6N075 charge swissprot:MFSD5_HUMAN http://rest.g-language.org/emboss/charge/swissprot:MFSD5_HUMAN eggNOG ENOG410XSP5 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XSP5 eggNOG KOG4332 http://eggnogapi.embl.de/nog_data/html/tree/KOG4332 epestfind swissprot:MFSD5_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:MFSD5_HUMAN garnier swissprot:MFSD5_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:MFSD5_HUMAN helixturnhelix swissprot:MFSD5_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:MFSD5_HUMAN hmoment swissprot:MFSD5_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:MFSD5_HUMAN iep swissprot:MFSD5_HUMAN http://rest.g-language.org/emboss/iep/swissprot:MFSD5_HUMAN inforesidue swissprot:MFSD5_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:MFSD5_HUMAN neXtProt NX_Q6N075 http://www.nextprot.org/db/entry/NX_Q6N075 octanol swissprot:MFSD5_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:MFSD5_HUMAN pepcoil swissprot:MFSD5_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:MFSD5_HUMAN pepdigest swissprot:MFSD5_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:MFSD5_HUMAN pepinfo swissprot:MFSD5_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:MFSD5_HUMAN pepnet swissprot:MFSD5_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:MFSD5_HUMAN pepstats swissprot:MFSD5_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:MFSD5_HUMAN pepwheel swissprot:MFSD5_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:MFSD5_HUMAN pepwindow swissprot:MFSD5_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:MFSD5_HUMAN sigcleave swissprot:MFSD5_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:MFSD5_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS CC055_HUMAN Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=A1A4F0-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=A1A4F0-2; Sequence=VSP_036612; Note=No experimental confirmation available.; Name=3; IsoId=A1A4F0-3; Sequence=VSP_045571; Note=No experimental confirmation available.; Name=4; IsoId=A1A4F0-4; Sequence=VSP_046204; Note=No experimental confirmation available.; # AltName PQ-loop repeat-containing protein 2-like {ECO:0000312|HGNC HGNC:25146} # CCDS CCDS46942 -. [A1A4F0-4] # CCDS CCDS46943 -. [A1A4F0-1] # CCDS CCDS46944 -. [A1A4F0-2] # CCDS CCDS58859 -. [A1A4F0-3] # ChiTaRS C3orf55 human # Ensembl ENST00000312275 ENSP00000312323; ENSG00000174899. [A1A4F0-2] # Ensembl ENST00000426338 ENSP00000387918; ENSG00000174899. [A1A4F0-4] # Ensembl ENST00000449199 ENSP00000413228; ENSG00000174899. [A1A4F0-1] # Ensembl ENST00000459838 ENSP00000420317; ENSG00000174899. [A1A4F0-3] # ExpressionAtlas A1A4F0 baseline and differential # GO_component GO:0005765 lysosomal membrane; IBA:GO_Central. # GO_component GO:0016021 integral component of membrane; IBA:GO_Central. # GO_function GO:0015181 arginine transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015189 L-lysine transmembrane transporter activity; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # Genevisible A1A4F0 HS # HGNC HGNC:25146 PQLC2L # Organism CC055_HUMAN Homo sapiens (Human) # Proteomes UP000005640 Chromosome 3 # RecName Putative uncharacterized protein PQLC2L {ECO 0000305} # RefSeq NP_001093247 NM_001099777.3. [A1A4F0-2] # RefSeq NP_001123473 NM_001130001.2. [A1A4F0-4] # RefSeq NP_001123474 NM_001130002.2. [A1A4F0-1] # RefSeq NP_001230658 NM_001243729.1. [A1A4F0-3] # SEQUENCE CAUTION Sequence=AAH29129.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO 0000305}; # UCSC uc003fbo human. [A1A4F0-1] # eggNOG ENOG4111FM2 LUCA # eggNOG KOG2913 Eukaryota BLAST swissprot:CC055_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CC055_HUMAN COXPRESdb 152078 http://coxpresdb.jp/data/gene/152078.shtml CleanEx HS_C3orf55 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_C3orf55 DOI 10.1038/nature04728 http://dx.doi.org/10.1038/nature04728 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AC084212 http://www.ebi.ac.uk/ena/data/view/AC084212 EMBL BC010062 http://www.ebi.ac.uk/ena/data/view/BC010062 EMBL BC029129 http://www.ebi.ac.uk/ena/data/view/BC029129 EMBL BC126187 http://www.ebi.ac.uk/ena/data/view/BC126187 EMBL BC126189 http://www.ebi.ac.uk/ena/data/view/BC126189 EMBL BC144066 http://www.ebi.ac.uk/ena/data/view/BC144066 EMBL CH471052 http://www.ebi.ac.uk/ena/data/view/CH471052 Ensembl ENST00000312275 http://www.ensembl.org/id/ENST00000312275 Ensembl ENST00000426338 http://www.ensembl.org/id/ENST00000426338 Ensembl ENST00000449199 http://www.ensembl.org/id/ENST00000449199 Ensembl ENST00000459838 http://www.ensembl.org/id/ENST00000459838 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005765 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005765 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0015181 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015181 GO_function GO:0015189 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015189 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GeneCards PQLC2L http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=PQLC2L GeneID 152078 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=152078 GeneTree ENSGT00390000003344 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000003344 HGNC HGNC:25146 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:25146 HOGENOM HOG000111368 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000111368&db=HOGENOM6 HPA HPA054395 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA054395 InParanoid A1A4F0 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=A1A4F0 IntAct A1A4F0 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=A1A4F0* Jabion 152078 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=152078 KEGG_Gene hsa:152078 http://www.genome.jp/dbget-bin/www_bget?hsa:152078 OMA REHLTCL http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=REHLTCL OrthoDB EOG091G0SAK http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0SAK PSORT swissprot:CC055_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CC055_HUMAN PSORT-B swissprot:CC055_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CC055_HUMAN PSORT2 swissprot:CC055_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CC055_HUMAN PharmGKB PA143485331 http://www.pharmgkb.org/do/serve?objId=PA143485331&objCls=Gene Phobius swissprot:CC055_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CC055_HUMAN PhylomeDB A1A4F0 http://phylomedb.org/?seqid=A1A4F0 ProteinModelPortal A1A4F0 http://www.proteinmodelportal.org/query/uniprot/A1A4F0 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16641997 http://www.ncbi.nlm.nih.gov/pubmed/16641997 RefSeq NP_001093247 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001093247 RefSeq NP_001123473 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001123473 RefSeq NP_001123474 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001123474 RefSeq NP_001230658 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001230658 STRING 9606.ENSP00000413228 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000413228&targetmode=cogs UCSC uc003fbo http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003fbo&org=rat UniGene Hs.259046 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.259046 UniProtKB CC055_HUMAN http://www.uniprot.org/uniprot/CC055_HUMAN UniProtKB-AC A1A4F0 http://www.uniprot.org/uniprot/A1A4F0 charge swissprot:CC055_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CC055_HUMAN eggNOG ENOG4111FM2 http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111FM2 eggNOG KOG2913 http://eggnogapi.embl.de/nog_data/html/tree/KOG2913 epestfind swissprot:CC055_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CC055_HUMAN garnier swissprot:CC055_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CC055_HUMAN helixturnhelix swissprot:CC055_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CC055_HUMAN hmoment swissprot:CC055_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CC055_HUMAN iep swissprot:CC055_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CC055_HUMAN inforesidue swissprot:CC055_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CC055_HUMAN neXtProt NX_A1A4F0 http://www.nextprot.org/db/entry/NX_A1A4F0 octanol swissprot:CC055_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CC055_HUMAN pepcoil swissprot:CC055_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CC055_HUMAN pepdigest swissprot:CC055_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CC055_HUMAN pepinfo swissprot:CC055_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CC055_HUMAN pepnet swissprot:CC055_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CC055_HUMAN pepstats swissprot:CC055_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CC055_HUMAN pepwheel swissprot:CC055_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CC055_HUMAN pepwindow swissprot:CC055_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CC055_HUMAN sigcleave swissprot:CC055_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CC055_HUMAN ## Database ID URL or Descriptions # BioGrid 132529 2 # Ensembl ENST00000360945 ENSP00000354204; ENSG00000196860 # ExpressionAtlas Q6UXN7 baseline and differential # GO_component GO:0005742 mitochondrial outer membrane translocase complex; IBA:GO_Central. # GO_component GO:0031307 integral component of mitochondrial outer membrane; IBA:GO_Central. # GO_function GO:0015450 P-P-bond-hydrolysis-driven protein transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0030943 mitochondrion targeting sequence binding; IBA:GO_Central. # GO_process GO:0016031 tRNA import into mitochondrion; IBA:GO_Central. # GO_process GO:0030150 protein import into mitochondrial matrix; IBA:GO_Central. # GO_process GO:0070096 mitochondrial outer membrane translocase complex assembly; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0008565 protein transporter activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.20.960.10 -; 1. # HGNC HGNC:33752 TOMM20L # InterPro IPR002056 MAS20 # InterPro IPR022422 MAS20_rcpt_metazoan # InterPro IPR023392 Tom20_dom # Organism TO20L_HUMAN Homo sapiens (Human) # PANTHER PTHR12430 PTHR12430 # PIRSF PIRSF037707 MAS20_rcpt # PRINTS PR00351 OM20RECEPTOR # PRINTS PR01989 EUOM20RECPTR # Pfam PF02064 MAS20 # Proteomes UP000005640 Chromosome 14 # RecName TO20L_HUMAN TOMM20-like protein 1 # RefSeq NP_997260 NM_207377.2 # SIMILARITY Belongs to the Tom20 family. {ECO 0000305}. # SUBCELLULAR LOCATION TO20L_HUMAN Mitochondrion outer membrane {ECO 0000305}; Single-pass membrane protein {ECO 0000305}. # SUPFAM SSF47157 SSF47157 # UCSC uc001xdr human # eggNOG ENOG4111NAH LUCA # eggNOG KOG4056 Eukaryota BLAST swissprot:TO20L_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:TO20L_HUMAN BioCyc ZFISH:G66-33497-MONOMER http://biocyc.org/getid?id=ZFISH:G66-33497-MONOMER COXPRESdb 387990 http://coxpresdb.jp/data/gene/387990.shtml CleanEx HS_TOMM20L http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_TOMM20L DOI 10.1101/gr.1293003 http://dx.doi.org/10.1101/gr.1293003 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AY358266 http://www.ebi.ac.uk/ena/data/view/AY358266 EMBL BC137557 http://www.ebi.ac.uk/ena/data/view/BC137557 EMBL BC137563 http://www.ebi.ac.uk/ena/data/view/BC137563 EMBL CH471061 http://www.ebi.ac.uk/ena/data/view/CH471061 Ensembl ENST00000360945 http://www.ensembl.org/id/ENST00000360945 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005742 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005742 GO_component GO:0031307 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031307 GO_function GO:0015450 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015450 GO_function GO:0030943 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030943 GO_process GO:0016031 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016031 GO_process GO:0030150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030150 GO_process GO:0070096 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070096 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.20.960.10 http://www.cathdb.info/version/latest/superfamily/1.20.960.10 GeneCards TOMM20L http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=TOMM20L GeneID 387990 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=387990 GeneTree ENSGT00390000011698 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000011698 HGNC HGNC:33752 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:33752 HOGENOM HOG000006671 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000006671&db=HOGENOM6 HOVERGEN HBG057315 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG057315&db=HOVERGEN HPA HPA044997 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA044997 InParanoid Q6UXN7 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q6UXN7 IntAct Q6UXN7 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q6UXN7* InterPro IPR002056 http://www.ebi.ac.uk/interpro/entry/IPR002056 InterPro IPR022422 http://www.ebi.ac.uk/interpro/entry/IPR022422 InterPro IPR023392 http://www.ebi.ac.uk/interpro/entry/IPR023392 Jabion 387990 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=387990 KEGG_Gene hsa:387990 http://www.genome.jp/dbget-bin/www_bget?hsa:387990 OMA DKRRAEP http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=DKRRAEP OrthoDB EOG091G0Z80 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0Z80 PANTHER PTHR12430 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12430 PRINTS PR00351 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00351 PRINTS PR01989 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01989 PSORT swissprot:TO20L_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:TO20L_HUMAN PSORT-B swissprot:TO20L_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:TO20L_HUMAN PSORT2 swissprot:TO20L_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:TO20L_HUMAN Pfam PF02064 http://pfam.xfam.org/family/PF02064 PharmGKB PA162406689 http://www.pharmgkb.org/do/serve?objId=PA162406689&objCls=Gene Phobius swissprot:TO20L_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:TO20L_HUMAN PhylomeDB Q6UXN7 http://phylomedb.org/?seqid=Q6UXN7 ProteinModelPortal Q6UXN7 http://www.proteinmodelportal.org/query/uniprot/Q6UXN7 PubMed 12975309 http://www.ncbi.nlm.nih.gov/pubmed/12975309 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 RefSeq NP_997260 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_997260 SMR Q6UXN7 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q6UXN7 STRING 9606.ENSP00000354204 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000354204&targetmode=cogs SUPFAM SSF47157 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF47157 UCSC uc001xdr http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001xdr&org=rat UniGene Hs.592307 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.592307 UniProtKB TO20L_HUMAN http://www.uniprot.org/uniprot/TO20L_HUMAN UniProtKB-AC Q6UXN7 http://www.uniprot.org/uniprot/Q6UXN7 charge swissprot:TO20L_HUMAN http://rest.g-language.org/emboss/charge/swissprot:TO20L_HUMAN eggNOG ENOG4111NAH http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111NAH eggNOG KOG4056 http://eggnogapi.embl.de/nog_data/html/tree/KOG4056 epestfind swissprot:TO20L_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:TO20L_HUMAN garnier swissprot:TO20L_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:TO20L_HUMAN helixturnhelix swissprot:TO20L_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:TO20L_HUMAN hmoment swissprot:TO20L_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:TO20L_HUMAN iep swissprot:TO20L_HUMAN http://rest.g-language.org/emboss/iep/swissprot:TO20L_HUMAN inforesidue swissprot:TO20L_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:TO20L_HUMAN neXtProt NX_Q6UXN7 http://www.nextprot.org/db/entry/NX_Q6UXN7 octanol swissprot:TO20L_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:TO20L_HUMAN pepcoil swissprot:TO20L_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:TO20L_HUMAN pepdigest swissprot:TO20L_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:TO20L_HUMAN pepinfo swissprot:TO20L_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:TO20L_HUMAN pepnet swissprot:TO20L_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:TO20L_HUMAN pepstats swissprot:TO20L_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:TO20L_HUMAN pepwheel swissprot:TO20L_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:TO20L_HUMAN pepwindow swissprot:TO20L_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:TO20L_HUMAN sigcleave swissprot:TO20L_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:TO20L_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S39AC_HUMAN Event=Alternative splicing; Named isoforms=5; Name=1; IsoId=Q504Y0-1; Sequence=Displayed; Name=2; IsoId=Q504Y0-2; Sequence=VSP_029847, VSP_029848; Note=No experimental confirmation available.; Name=3; IsoId=Q504Y0-3; Sequence=VSP_029849; Note=No experimental confirmation available.; Name=4; IsoId=Q504Y0-4; Sequence=VSP_029850; Note=No experimental confirmation available.; Name=5; IsoId=Q504Y0-5; Sequence=VSP_057594; # AltName S39AC_HUMAN LIV-1 subfamily of ZIP zinc transporter 8 # AltName S39AC_HUMAN Solute carrier family 39 member 12 # AltName S39AC_HUMAN Zrt- and Irt-like protein 12 # BioGrid 128681 70 # CCDS CCDS44362 -. [Q504Y0-1] # CCDS CCDS60493 -. [Q504Y0-4] # CCDS CCDS60494 -. [Q504Y0-5] # CCDS CCDS7124 -. [Q504Y0-3] # Ensembl ENST00000377369 ENSP00000366586; ENSG00000148482. [Q504Y0-1] # Ensembl ENST00000377371 ENSP00000366588; ENSG00000148482. [Q504Y0-4] # Ensembl ENST00000377374 ENSP00000366591; ENSG00000148482. [Q504Y0-3] # Ensembl ENST00000539911 ENSP00000440445; ENSG00000148482. [Q504Y0-5] # FUNCTION S39AC_HUMAN Acts as a zinc-influx transporter (Potential). May be partly involved in the outbreak of schizophrenia. {ECO 0000305}. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0048471 perinuclear region of cytoplasm; IEA:Ensembl. # GO_component GO:1903561 extracellular vesicle; IDA:UniProtKB. # GO_function GO:0005385 zinc ion transmembrane transporter activity; IBA:GO_Central. # GO_process GO:0006882 cellular zinc ion homeostasis; IBA:GO_Central. # GO_process GO:0007165 signal transduction; IBA:GO_Central. # GO_process GO:0010975 regulation of neuron projection development; IEA:Ensembl. # GO_process GO:0031113 regulation of microtubule polymerization; IEA:Ensembl. # GO_process GO:0071578 zinc II ion transmembrane import; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0043226 organelle # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Genevisible Q504Y0 HS # HGNC HGNC:20860 SLC39A12 # InterPro IPR003689 ZIP # KEGG_Brite ko02001 Solute carrier family # MIM 608734 gene # Organism S39AC_HUMAN Homo sapiens (Human) # Pfam PF02535 Zip # Proteomes UP000005640 Chromosome 10 # RecName S39AC_HUMAN Zinc transporter ZIP12 # RefSeq NP_001138667 NM_001145195.1. [Q504Y0-1] # RefSeq NP_001269662 NM_001282733.1. [Q504Y0-4] # RefSeq NP_001269663 NM_001282734.1. [Q504Y0-5] # RefSeq NP_689938 NM_152725.3. [Q504Y0-3] # SIMILARITY Belongs to the ZIP transporter (TC 2.A.5) family. {ECO 0000305}. # SUBCELLULAR LOCATION S39AC_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # TCDB 2.A.5.4.14 the zinc (zn(2+))-iron (fe(2+)) permease (zip) family # TISSUE SPECIFICITY S39AC_HUMAN Expressed in brain and eye. {ECO 0000269|PubMed 12107410, ECO 0000269|PubMed 15342556}. # UCSC uc001ipn human. [Q504Y0-1] # UCSC uc010qck human # eggNOG COG0428 LUCA # eggNOG KOG2693 Eukaryota BLAST swissprot:S39AC_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S39AC_HUMAN COXPRESdb 221074 http://coxpresdb.jp/data/gene/221074.shtml CleanEx HS_SLC39A12 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC39A12 DOI 10.1016/j.schres.2005.07.039 http://dx.doi.org/10.1016/j.schres.2005.07.039 DOI 10.1038/nature02462 http://dx.doi.org/10.1038/nature02462 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2435604 http://dx.doi.org/10.1101/gr.2435604 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1133427 http://dx.doi.org/10.1126/science.1133427 EMBL AC069023 http://www.ebi.ac.uk/ena/data/view/AC069023 EMBL AC069023 http://www.ebi.ac.uk/ena/data/view/AC069023 EMBL AC069023 http://www.ebi.ac.uk/ena/data/view/AC069023 EMBL AC069023 http://www.ebi.ac.uk/ena/data/view/AC069023 EMBL AK055061 http://www.ebi.ac.uk/ena/data/view/AK055061 EMBL AK295294 http://www.ebi.ac.uk/ena/data/view/AK295294 EMBL AL360231 http://www.ebi.ac.uk/ena/data/view/AL360231 EMBL AL360231 http://www.ebi.ac.uk/ena/data/view/AL360231 EMBL AL360231 http://www.ebi.ac.uk/ena/data/view/AL360231 EMBL AL360231 http://www.ebi.ac.uk/ena/data/view/AL360231 EMBL AL590111 http://www.ebi.ac.uk/ena/data/view/AL590111 EMBL AL590111 http://www.ebi.ac.uk/ena/data/view/AL590111 EMBL AL590111 http://www.ebi.ac.uk/ena/data/view/AL590111 EMBL AL590111 http://www.ebi.ac.uk/ena/data/view/AL590111 EMBL BC035118 http://www.ebi.ac.uk/ena/data/view/BC035118 EMBL BC047635 http://www.ebi.ac.uk/ena/data/view/BC047635 EMBL BC065917 http://www.ebi.ac.uk/ena/data/view/BC065917 EMBL BC094700 http://www.ebi.ac.uk/ena/data/view/BC094700 EMBL BC117323 http://www.ebi.ac.uk/ena/data/view/BC117323 EMBL BC143551 http://www.ebi.ac.uk/ena/data/view/BC143551 Ensembl ENST00000377369 http://www.ensembl.org/id/ENST00000377369 Ensembl ENST00000377371 http://www.ensembl.org/id/ENST00000377371 Ensembl ENST00000377374 http://www.ensembl.org/id/ENST00000377374 Ensembl ENST00000539911 http://www.ensembl.org/id/ENST00000539911 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0048471 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048471 GO_component GO:1903561 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903561 GO_function GO:0005385 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005385 GO_process GO:0006882 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006882 GO_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GO_process GO:0010975 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010975 GO_process GO:0031113 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031113 GO_process GO:0071578 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071578 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC39A12 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC39A12 GeneID 221074 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=221074 GeneTree ENSGT00760000119115 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119115 H-InvDB HIX0008685 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0008685 H-InvDB HIX0019390 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0019390 HGNC HGNC:20860 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:20860 HOVERGEN HBG108449 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG108449&db=HOVERGEN InParanoid Q504Y0 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q504Y0 InterPro IPR003689 http://www.ebi.ac.uk/interpro/entry/IPR003689 Jabion 221074 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=221074 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:221074 http://www.genome.jp/dbget-bin/www_bget?hsa:221074 KEGG_Orthology KO:K14718 http://www.genome.jp/dbget-bin/www_bget?KO:K14718 MIM 608734 http://www.ncbi.nlm.nih.gov/omim/608734 OMA HQEEICS http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=HQEEICS OrthoDB EOG091G035V http://cegg.unige.ch/orthodb/results?searchtext=EOG091G035V PSORT swissprot:S39AC_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S39AC_HUMAN PSORT-B swissprot:S39AC_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S39AC_HUMAN PSORT2 swissprot:S39AC_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S39AC_HUMAN Pfam PF02535 http://pfam.xfam.org/family/PF02535 PharmGKB PA134956205 http://www.pharmgkb.org/do/serve?objId=PA134956205&objCls=Gene Phobius swissprot:S39AC_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S39AC_HUMAN PhylomeDB Q504Y0 http://phylomedb.org/?seqid=Q504Y0 ProteinModelPortal Q504Y0 http://www.proteinmodelportal.org/query/uniprot/Q504Y0 PubMed 12107410 http://www.ncbi.nlm.nih.gov/pubmed/12107410 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15164054 http://www.ncbi.nlm.nih.gov/pubmed/15164054 PubMed 15342556 http://www.ncbi.nlm.nih.gov/pubmed/15342556 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16311021 http://www.ncbi.nlm.nih.gov/pubmed/16311021 PubMed 16959974 http://www.ncbi.nlm.nih.gov/pubmed/16959974 RefSeq NP_001138667 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001138667 RefSeq NP_001269662 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001269662 RefSeq NP_001269663 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001269663 RefSeq NP_689938 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_689938 SMR Q504Y0 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q504Y0 STRING 9606.ENSP00000366586 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000366586&targetmode=cogs TCDB 2.A.5.4.14 http://www.tcdb.org/search/result.php?tc=2.A.5.4.14 UCSC uc001ipn http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001ipn&org=rat UCSC uc010qck http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc010qck&org=rat UniGene Hs.350895 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.350895 UniProtKB S39AC_HUMAN http://www.uniprot.org/uniprot/S39AC_HUMAN UniProtKB-AC Q504Y0 http://www.uniprot.org/uniprot/Q504Y0 charge swissprot:S39AC_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S39AC_HUMAN eggNOG COG0428 http://eggnogapi.embl.de/nog_data/html/tree/COG0428 eggNOG KOG2693 http://eggnogapi.embl.de/nog_data/html/tree/KOG2693 epestfind swissprot:S39AC_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S39AC_HUMAN garnier swissprot:S39AC_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S39AC_HUMAN helixturnhelix swissprot:S39AC_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S39AC_HUMAN hmoment swissprot:S39AC_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S39AC_HUMAN iep swissprot:S39AC_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S39AC_HUMAN inforesidue swissprot:S39AC_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S39AC_HUMAN neXtProt NX_Q504Y0 http://www.nextprot.org/db/entry/NX_Q504Y0 octanol swissprot:S39AC_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S39AC_HUMAN pepcoil swissprot:S39AC_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S39AC_HUMAN pepdigest swissprot:S39AC_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S39AC_HUMAN pepinfo swissprot:S39AC_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S39AC_HUMAN pepnet swissprot:S39AC_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S39AC_HUMAN pepstats swissprot:S39AC_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S39AC_HUMAN pepwheel swissprot:S39AC_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S39AC_HUMAN pepwindow swissprot:S39AC_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S39AC_HUMAN sigcleave swissprot:S39AC_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S39AC_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS ZNT6_HUMAN Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q6NXT4-1; Sequence=Displayed; Name=2; IsoId=Q6NXT4-2; Sequence=VSP_029861; Note=No experimental confirmation available.; Name=4; IsoId=Q6NXT4-4; Sequence=VSP_045198; Note=No experimental confirmation available.; Name=3; IsoId=Q6NXT4-3; Sequence=VSP_029862; Note=No experimental confirmation available.; # AltName ZNT6_HUMAN Solute carrier family 30 member 6 # BioGrid 120806 22 # CCDS CCDS1780 -. [Q6NXT4-1] # CCDS CCDS54341 -. [Q6NXT4-2] # CCDS CCDS54342 -. [Q6NXT4-3] # CCDS CCDS54343 -. [Q6NXT4-4] # ChiTaRS SLC30A6 human # Ensembl ENST00000282587 ENSP00000282587; ENSG00000152683. [Q6NXT4-1] # Ensembl ENST00000357055 ENSP00000349563; ENSG00000152683. [Q6NXT4-4] # Ensembl ENST00000379343 ENSP00000368648; ENSG00000152683. [Q6NXT4-2] # Ensembl ENST00000435660 ENSP00000399005; ENSG00000152683. [Q6NXT4-3] # ExpressionAtlas Q6NXT4 baseline and differential # FUNCTION ZNT6_HUMAN Zinc-efflux transporter which allocates the cytoplasmic zinc to the trans-Golgi network (TGN) as well as the vesicular compartment. {ECO 0000250}. # GO_component GO:0000139 Golgi membrane; TAS:Reactome. # GO_component GO:0005794 Golgi apparatus; IDA:BHF-UCL. # GO_component GO:0016020 membrane; IBA:GO_Central. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0005385 zinc ion transmembrane transporter activity; IBA:GO_Central. # GO_process GO:0010043 response to zinc ion; IBA:GO_Central. # GO_process GO:0061088 regulation of sequestering of zinc ion; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005794 Golgi apparatus # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0008150 biological_process # Gene3D 1.20.1510.10 -; 1. # Genevisible Q6NXT4 HS # HGNC HGNC:19305 SLC30A6 # IntAct Q6NXT4 4 # InterPro IPR002524 Cation_efflux # InterPro IPR027469 Cation_efflux_TMD # KEGG_Brite ko02001 Solute carrier family # MIM 611148 gene # MISCELLANEOUS Seems to have lost most of the histidine residues in the loop between the fourth and fifth transmembrane regions and appears to exert transport function by forming complexes with ZNT5. {ECO 0000250}. # Organism ZNT6_HUMAN Homo sapiens (Human) # PANTHER PTHR11562 PTHR11562; 2 # Pfam PF01545 Cation_efflux # Proteomes UP000005640 Chromosome 2 # Reactome R-HSA-264876 Insulin processing # Reactome R-HSA-435368 Zinc efflux and compartmentalization by the SLC30 family # RecName ZNT6_HUMAN Zinc transporter 6 # RefSeq NP_001180442 NM_001193513.2. [Q6NXT4-2] # RefSeq NP_001180443 NM_001193514.2. [Q6NXT4-3] # RefSeq NP_001180444 NM_001193515.2. [Q6NXT4-4] # RefSeq NP_060434 NM_017964.4. [Q6NXT4-1] # SEQUENCE CAUTION Sequence=AAH32525.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the cation diffusion facilitator (CDF) transporter (TC 2.A.4) family. SLC30A subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION ZNT6_HUMAN Golgi apparatus, trans-Golgi network membrane; Multi-pass membrane protein. Note=Found in vesicles. {ECO 0000250}. # SUBUNIT Heterooligomer. Interacts with ZNT5 (By similarity). {ECO 0000250}. # TCDB 2.A.4.4 the cation diffusion facilitator (cdf) family # TIGRFAMs TIGR01297 CDF # TISSUE SPECIFICITY ZNT6_HUMAN Expressed in brain; especially in cerebellum, hippocampus, parahippocampal gyrus, superior and middle temporal gyrus. Also expressed in B-cells, colon, eye, and lung. Lower expression was present in bone, brain, cervix, ear, heart, kidney, muscle, nerve, pancreas, prostate, skin, stomach, and testis. {ECO 0000269|PubMed 15154973, ECO 0000269|PubMed 16580781}. # UCSC uc002roe human. [Q6NXT4-1] BLAST swissprot:ZNT6_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ZNT6_HUMAN COXPRESdb 55676 http://coxpresdb.jp/data/gene/55676.shtml CleanEx HS_SLC30A6 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC30A6 DOI 10.1016/j.molcel.2008.07.007 http://dx.doi.org/10.1016/j.molcel.2008.07.007 DOI 10.1016/j.neuroscience.2006.02.049 http://dx.doi.org/10.1016/j.neuroscience.2006.02.049 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1471-2164-5-32 http://dx.doi.org/10.1186/1471-2164-5-32 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 EMBL AK055663 http://www.ebi.ac.uk/ena/data/view/AK055663 EMBL AK304225 http://www.ebi.ac.uk/ena/data/view/AK304225 EMBL AL121653 http://www.ebi.ac.uk/ena/data/view/AL121653 EMBL AL121658 http://www.ebi.ac.uk/ena/data/view/AL121658 EMBL BC032525 http://www.ebi.ac.uk/ena/data/view/BC032525 EMBL BC066903 http://www.ebi.ac.uk/ena/data/view/BC066903 EMBL CH471053 http://www.ebi.ac.uk/ena/data/view/CH471053 EMBL EF560719 http://www.ebi.ac.uk/ena/data/view/EF560719 EMBL EF560726 http://www.ebi.ac.uk/ena/data/view/EF560726 Ensembl ENST00000282587 http://www.ensembl.org/id/ENST00000282587 Ensembl ENST00000357055 http://www.ensembl.org/id/ENST00000357055 Ensembl ENST00000379343 http://www.ensembl.org/id/ENST00000379343 Ensembl ENST00000435660 http://www.ensembl.org/id/ENST00000435660 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000139 GO_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005385 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005385 GO_process GO:0010043 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010043 GO_process GO:0061088 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061088 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 Gene3D 1.20.1510.10 http://www.cathdb.info/version/latest/superfamily/1.20.1510.10 GeneCards SLC30A6 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC30A6 GeneID 55676 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=55676 GeneTree ENSGT00630000089781 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00630000089781 H-InvDB HIX0001954 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0001954 HGNC HGNC:19305 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:19305 HOGENOM HOG000060341 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000060341&db=HOGENOM6 HOVERGEN HBG106400 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG106400&db=HOVERGEN HPA HPA055032 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA055032 HPA HPA057328 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA057328 InParanoid Q6NXT4 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q6NXT4 IntAct Q6NXT4 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q6NXT4* InterPro IPR002524 http://www.ebi.ac.uk/interpro/entry/IPR002524 InterPro IPR027469 http://www.ebi.ac.uk/interpro/entry/IPR027469 Jabion 55676 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=55676 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:55676 http://www.genome.jp/dbget-bin/www_bget?hsa:55676 KEGG_Orthology KO:K14693 http://www.genome.jp/dbget-bin/www_bget?KO:K14693 MIM 611148 http://www.ncbi.nlm.nih.gov/omim/611148 OMA PSRYGTN http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=PSRYGTN OrthoDB EOG091G0MKP http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0MKP PANTHER PTHR11562 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11562 PSORT swissprot:ZNT6_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ZNT6_HUMAN PSORT-B swissprot:ZNT6_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ZNT6_HUMAN PSORT2 swissprot:ZNT6_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ZNT6_HUMAN Pfam PF01545 http://pfam.xfam.org/family/PF01545 PharmGKB PA134923067 http://www.pharmgkb.org/do/serve?objId=PA134923067&objCls=Gene Phobius swissprot:ZNT6_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ZNT6_HUMAN PhylomeDB Q6NXT4 http://phylomedb.org/?seqid=Q6NXT4 ProteinModelPortal Q6NXT4 http://www.proteinmodelportal.org/query/uniprot/Q6NXT4 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15154973 http://www.ncbi.nlm.nih.gov/pubmed/15154973 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 PubMed 16580781 http://www.ncbi.nlm.nih.gov/pubmed/16580781 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 18691976 http://www.ncbi.nlm.nih.gov/pubmed/18691976 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 Reactome R-HSA-264876 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-264876 Reactome R-HSA-435368 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-435368 RefSeq NP_001180442 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001180442 RefSeq NP_001180443 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001180443 RefSeq NP_001180444 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001180444 RefSeq NP_060434 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_060434 TCDB 2.A.4.4 http://www.tcdb.org/search/result.php?tc=2.A.4.4 TIGRFAMs TIGR01297 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01297 UCSC uc002roe http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002roe&org=rat UniGene Hs.23248 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.23248 UniProtKB ZNT6_HUMAN http://www.uniprot.org/uniprot/ZNT6_HUMAN UniProtKB-AC Q6NXT4 http://www.uniprot.org/uniprot/Q6NXT4 charge swissprot:ZNT6_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ZNT6_HUMAN epestfind swissprot:ZNT6_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ZNT6_HUMAN garnier swissprot:ZNT6_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ZNT6_HUMAN helixturnhelix swissprot:ZNT6_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ZNT6_HUMAN hmoment swissprot:ZNT6_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ZNT6_HUMAN iep swissprot:ZNT6_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ZNT6_HUMAN inforesidue swissprot:ZNT6_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ZNT6_HUMAN neXtProt NX_Q6NXT4 http://www.nextprot.org/db/entry/NX_Q6NXT4 octanol swissprot:ZNT6_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ZNT6_HUMAN pepcoil swissprot:ZNT6_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ZNT6_HUMAN pepdigest swissprot:ZNT6_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ZNT6_HUMAN pepinfo swissprot:ZNT6_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ZNT6_HUMAN pepnet swissprot:ZNT6_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ZNT6_HUMAN pepstats swissprot:ZNT6_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ZNT6_HUMAN pepwheel swissprot:ZNT6_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ZNT6_HUMAN pepwindow swissprot:ZNT6_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ZNT6_HUMAN sigcleave swissprot:ZNT6_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ZNT6_HUMAN ## Database ID URL or Descriptions # AltName EBP_HUMAN Cholestenol Delta-isomerase # AltName EBP_HUMAN Delta(8)-Delta(7) sterol isomerase # AltName EBP_HUMAN Emopamil-binding protein # BRENDA 5.3.3 2681 # BioGrid 115921 38 # CATALYTIC ACTIVITY EBP_HUMAN 5-alpha-cholest-7-en-3-beta-ol = 5-alpha- cholest-8-en-3-beta-ol. {ECO 0000269|PubMed 12760743, ECO 0000269|PubMed 8798407, ECO 0000269|PubMed 9894009}. # DISEASE EBP_HUMAN Chondrodysplasia punctata 2, X-linked dominant (CDPX2) [MIM 302960] A clinically and genetically heterogeneous disorder characterized by punctiform calcification of the bones. The key clinical features of CDPX2 are chondrodysplasia punctata, linear ichthyosis, cataracts and short stature. CDPX2 is a rare disorder of defective cholesterol biosynthesis, biochemically characterized by an increased amount of 8-dehydrocholesterol and cholest-8(9)- en-3-beta-ol in the plasma and tissues. {ECO 0000269|PubMed 10391218, ECO 0000269|PubMed 10391219, ECO 0000269|PubMed 10942423, ECO 0000269|PubMed 11493318, ECO 0000269|PubMed 18176751, ECO 0000269|PubMed 25814754}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE EBP_HUMAN MEND syndrome (MEND) [MIM 300960] An X-linked recessive disorder associated with a defect in sterol biosynthesis. Disease manifestations and severity are highly variable. Clinical features include intellectual disability, short stature, scoliosis, digital abnormalities, cataracts, and dermatologic abnormalities. {ECO 0000269|PubMed 12503101, ECO 0000269|PubMed 20949533, ECO 0000269|PubMed 24459067, ECO 0000269|PubMed 24700572}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DrugBank DB00675 Tamoxifen # Ensembl ENST00000495186 ENSP00000417052; ENSG00000147155 # ExpressionAtlas Q15125 baseline and differential # FUNCTION EBP_HUMAN Catalyzes the conversion of Delta(8)-sterols to their corresponding Delta(7)-isomers. {ECO 0000269|PubMed 12760743, ECO 0000269|PubMed 8798407, ECO 0000269|PubMed 9894009}. # GO_component GO:0005635 nuclear envelope; IDA:UniProtKB. # GO_component GO:0005783 endoplasmic reticulum; IDA:UniProtKB. # GO_component GO:0005789 endoplasmic reticulum membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0016023 cytoplasmic, membrane-bounded vesicle; IEA:UniProtKB-SubCell. # GO_function GO:0000247 C-8 sterol isomerase activity; IEA:Ensembl. # GO_function GO:0004769 steroid delta-isomerase activity; IDA:UniProtKB. # GO_function GO:0004888 transmembrane signaling receptor activity; TAS:ProtInc. # GO_function GO:0015238 drug transmembrane transporter activity; TAS:ProtInc. # GO_function GO:0047750 cholestenol delta-isomerase activity; IEA:UniProtKB-EC. # GO_process GO:0001501 skeletal system development; TAS:ProtInc. # GO_process GO:0006695 cholesterol biosynthetic process; IDA:UniProtKB. # GO_process GO:0008203 cholesterol metabolic process; TAS:ProtInc. # GO_process GO:0030097 hemopoiesis; IEA:Ensembl. # GO_process GO:0033489 cholesterol biosynthetic process via desmosterol; TAS:Reactome. # GO_process GO:0033490 cholesterol biosynthetic process via lathosterol; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005635 nuclear envelope # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0016853 isomerase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006629 lipid metabolic process # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0044281 small molecule metabolic process # GOslim_process GO:0048856 anatomical structure development # Genevisible Q15125 HS # HGNC HGNC:3133 EBP # IntAct Q15125 14 # InterPro IPR007905 EBP # InterPro IPR033118 EXPERA # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Brite ko01000 Enzymes # KEGG_Disease H01194 [Inherited metabolic disease; Musculoskeletal disease] X-linked dominant chondrodysplasia punctata (CDPX2) # KEGG_Pathway ko00100 Steroid biosynthesis # MIM 300205 gene # MIM 300960 phenotype # MIM 302960 phenotype # MISCELLANEOUS EBP_HUMAN Binds to the phenylalkylamine calcium-ion antagonist emopamil, an anti-ischemic drug. # Organism EBP_HUMAN Homo sapiens (Human) # Orphanet 35173 X-linked dominant chondrodysplasia punctata # Orphanet 352487 Digital anomalies - intellectual disability - short stature # Orphanet 401973 MEND syndrome # PANTHER PTHR14207 PTHR14207 # PATHWAY EBP_HUMAN Steroid biosynthesis; cholesterol biosynthesis. {ECO 0000269|PubMed 12760743, ECO 0000269|PubMed 8798407, ECO 0000269|PubMed 9894009}. # PIR B56122 B56122 # PROSITE PS51751 EXPERA # Pfam PF05241 EBP # Proteomes UP000005640 Chromosome X # Reactome R-HSA-6807047 Cholesterol biosynthesis via desmosterol # Reactome R-HSA-6807062 Cholesterol biosynthesis via lathosterol # RecName EBP_HUMAN 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase # RefSeq NP_006570 NM_006579.2 # SIMILARITY Belongs to the EBP family. {ECO 0000305}. # SIMILARITY Contains 1 EXPERA domain. {ECO:0000255|PROSITE- ProRule PRU01087}. # SUBCELLULAR LOCATION EBP_HUMAN Endoplasmic reticulum membrane {ECO 0000269|PubMed 10406945}; Multi-pass membrane protein {ECO 0000305}. Nucleus envelope {ECO 0000269|PubMed 10406945}. Cytoplasmic vesicle {ECO 0000269|PubMed 10406945}. Note=During interphase, detected on the endoplasmic reticulum and the nuclear envelope. During mitosis, detected on cytoplasmic vesicles. {ECO 0000269|PubMed 10406945}. # UCSC uc004djx human # eggNOG ENOG41101ES LUCA # eggNOG KOG4826 Eukaryota BLAST swissprot:EBP_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:EBP_HUMAN BioCyc MetaCyc:ENSG00000147155-MONOMER http://biocyc.org/getid?id=MetaCyc:ENSG00000147155-MONOMER BioCyc ZFISH:ENSG00000147155-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000147155-MONOMER COXPRESdb 10682 http://coxpresdb.jp/data/gene/10682.shtml CleanEx HS_EBP http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_EBP DOI 10.1002/ajmg.a.10849 http://dx.doi.org/10.1002/ajmg.a.10849 DOI 10.1002/ajmg.a.33674 http://dx.doi.org/10.1002/ajmg.a.33674 DOI 10.1002/ajmg.a.36368 http://dx.doi.org/10.1002/ajmg.a.36368 DOI 10.1002/ajmg.a.36508 http://dx.doi.org/10.1002/ajmg.a.36508 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1021/bi981804i http://dx.doi.org/10.1021/bi981804i DOI 10.1034/j.1600-0625.2001.100409.x http://dx.doi.org/10.1034/j.1600-0625.2001.100409.x DOI 10.1038/10350 http://dx.doi.org/10.1038/10350 DOI 10.1038/10357 http://dx.doi.org/10.1038/10357 DOI 10.1038/nature03440 http://dx.doi.org/10.1038/nature03440 DOI 10.1042/BJ20030465 http://dx.doi.org/10.1042/BJ20030465 DOI 10.1046/j.1432-1327.1999.00500.x http://dx.doi.org/10.1046/j.1432-1327.1999.00500.x DOI 10.1074/jbc.270.13.7551 http://dx.doi.org/10.1074/jbc.270.13.7551 DOI 10.1074/jbc.271.37.22434 http://dx.doi.org/10.1074/jbc.271.37.22434 DOI 10.1093/hmg/9.13.1951 http://dx.doi.org/10.1093/hmg/9.13.1951 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1175371 http://dx.doi.org/10.1126/science.1175371 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DOI 10.2340/00015555-0337 http://dx.doi.org/10.2340/00015555-0337 DOI 10.4103/0019-5154.152570 http://dx.doi.org/10.4103/0019-5154.152570 DrugBank DB00675 http://www.drugbank.ca/drugs/DB00675 EC_number EC:5.3.3.5 {ECO:0000269|PubMed:12760743, ECO:0000269|PubMed:8798407, ECO:0000269|PubMed:9894009} http://www.genome.jp/dbget-bin/www_bget?EC:5.3.3.5 {ECO:0000269|PubMed:12760743, ECO:0000269|PubMed:8798407, ECO:0000269|PubMed:9894009} EMBL AF196969 http://www.ebi.ac.uk/ena/data/view/AF196969 EMBL AF196972 http://www.ebi.ac.uk/ena/data/view/AF196972 EMBL BC001549 http://www.ebi.ac.uk/ena/data/view/BC001549 EMBL BC001572 http://www.ebi.ac.uk/ena/data/view/BC001572 EMBL BC046501 http://www.ebi.ac.uk/ena/data/view/BC046501 EMBL CH471224 http://www.ebi.ac.uk/ena/data/view/CH471224 EMBL CR456815 http://www.ebi.ac.uk/ena/data/view/CR456815 EMBL CR542094 http://www.ebi.ac.uk/ena/data/view/CR542094 EMBL Z37986 http://www.ebi.ac.uk/ena/data/view/Z37986 ENZYME 5.3.3.5 {ECO:0000269|PubMed:12760743, ECO:0000269|PubMed:8798407, ECO:0000269|PubMed:9894009} http://enzyme.expasy.org/EC/5.3.3.5 {ECO:0000269|PubMed:12760743, ECO:0000269|PubMed:8798407, ECO:0000269|PubMed:9894009} Ensembl ENST00000495186 http://www.ensembl.org/id/ENST00000495186 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005635 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005635 GO_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GO_component GO:0005789 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005789 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016023 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016023 GO_function GO:0000247 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000247 GO_function GO:0004769 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004769 GO_function GO:0004888 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004888 GO_function GO:0015238 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015238 GO_function GO:0047750 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0047750 GO_process GO:0001501 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001501 GO_process GO:0006695 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006695 GO_process GO:0008203 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008203 GO_process GO:0030097 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030097 GO_process GO:0033489 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033489 GO_process GO:0033490 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033490 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005635 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005635 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0016853 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016853 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006629 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006629 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GeneCards EBP http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=EBP GeneID 10682 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=10682 GeneTree ENSGT00530000063715 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000063715 HGNC HGNC:3133 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:3133 HOGENOM HOG000204543 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000204543&db=HOGENOM6 HOVERGEN HBG018176 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG018176&db=HOVERGEN HPA HPA003130 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA003130 InParanoid Q15125 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q15125 IntAct Q15125 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q15125* IntEnz 5.3.3.5 {ECO:0000269|PubMed:12760743, ECO:0000269|PubMed:8798407, ECO:0000269|PubMed:9894009} http://www.ebi.ac.uk/intenz/query?cmd=Search&q=5.3.3.5 {ECO:0000269|PubMed:12760743, ECO:0000269|PubMed:8798407, ECO:0000269|PubMed:9894009} InterPro IPR007905 http://www.ebi.ac.uk/interpro/entry/IPR007905 InterPro IPR033118 http://www.ebi.ac.uk/interpro/entry/IPR033118 Jabion 10682 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=10682 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00002 http://www.genome.jp/dbget-bin/www_bget?ko00002 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Disease H01194 http://www.genome.jp/dbget-bin/www_bget?H01194 KEGG_Gene hsa:10682 http://www.genome.jp/dbget-bin/www_bget?hsa:10682 KEGG_Orthology KO:K01824 http://www.genome.jp/dbget-bin/www_bget?KO:K01824 KEGG_Pathway ko00100 http://www.genome.jp/kegg-bin/show_pathway?ko00100 KEGG_Reaction rn:R03353 http://www.genome.jp/dbget-bin/www_bget?rn:R03353 KEGG_Reaction rn:R04804 http://www.genome.jp/dbget-bin/www_bget?rn:R04804 KEGG_Reaction rn:R07484 http://www.genome.jp/dbget-bin/www_bget?rn:R07484 MIM 300205 http://www.ncbi.nlm.nih.gov/omim/300205 MIM 300960 http://www.ncbi.nlm.nih.gov/omim/300960 MIM 302960 http://www.ncbi.nlm.nih.gov/omim/302960 OMA FVIHHET http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=FVIHHET Orphanet 35173 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=35173 Orphanet 352487 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=352487 Orphanet 401973 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=401973 OrthoDB EOG091G0KCI http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0KCI PANTHER PTHR14207 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR14207 PROSITE PS51751 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51751 PSORT swissprot:EBP_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:EBP_HUMAN PSORT-B swissprot:EBP_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:EBP_HUMAN PSORT2 swissprot:EBP_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:EBP_HUMAN Pfam PF05241 http://pfam.xfam.org/family/PF05241 PharmGKB PA27587 http://www.pharmgkb.org/do/serve?objId=PA27587&objCls=Gene Phobius swissprot:EBP_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:EBP_HUMAN PhylomeDB Q15125 http://phylomedb.org/?seqid=Q15125 ProteinModelPortal Q15125 http://www.proteinmodelportal.org/query/uniprot/Q15125 PubMed 10391218 http://www.ncbi.nlm.nih.gov/pubmed/10391218 PubMed 10391219 http://www.ncbi.nlm.nih.gov/pubmed/10391219 PubMed 10406945 http://www.ncbi.nlm.nih.gov/pubmed/10406945 PubMed 10942423 http://www.ncbi.nlm.nih.gov/pubmed/10942423 PubMed 11493318 http://www.ncbi.nlm.nih.gov/pubmed/11493318 PubMed 12503101 http://www.ncbi.nlm.nih.gov/pubmed/12503101 PubMed 12760743 http://www.ncbi.nlm.nih.gov/pubmed/12760743 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15772651 http://www.ncbi.nlm.nih.gov/pubmed/15772651 PubMed 18176751 http://www.ncbi.nlm.nih.gov/pubmed/18176751 PubMed 19608861 http://www.ncbi.nlm.nih.gov/pubmed/19608861 PubMed 20949533 http://www.ncbi.nlm.nih.gov/pubmed/20949533 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 24459067 http://www.ncbi.nlm.nih.gov/pubmed/24459067 PubMed 24700572 http://www.ncbi.nlm.nih.gov/pubmed/24700572 PubMed 25814754 http://www.ncbi.nlm.nih.gov/pubmed/25814754 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 7706302 http://www.ncbi.nlm.nih.gov/pubmed/7706302 PubMed 8798407 http://www.ncbi.nlm.nih.gov/pubmed/8798407 PubMed 9894009 http://www.ncbi.nlm.nih.gov/pubmed/9894009 Reactome R-HSA-6807047 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6807047 Reactome R-HSA-6807062 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6807062 RefSeq NP_006570 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_006570 STRING 9606.ENSP00000417052 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000417052&targetmode=cogs UCSC uc004djx http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc004djx&org=rat UniGene Hs.30619 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.30619 UniProtKB EBP_HUMAN http://www.uniprot.org/uniprot/EBP_HUMAN UniProtKB-AC Q15125 http://www.uniprot.org/uniprot/Q15125 charge swissprot:EBP_HUMAN http://rest.g-language.org/emboss/charge/swissprot:EBP_HUMAN eggNOG ENOG41101ES http://eggnogapi.embl.de/nog_data/html/tree/ENOG41101ES eggNOG KOG4826 http://eggnogapi.embl.de/nog_data/html/tree/KOG4826 epestfind swissprot:EBP_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:EBP_HUMAN garnier swissprot:EBP_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:EBP_HUMAN helixturnhelix swissprot:EBP_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:EBP_HUMAN hmoment swissprot:EBP_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:EBP_HUMAN iep swissprot:EBP_HUMAN http://rest.g-language.org/emboss/iep/swissprot:EBP_HUMAN inforesidue swissprot:EBP_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:EBP_HUMAN neXtProt NX_Q15125 http://www.nextprot.org/db/entry/NX_Q15125 octanol swissprot:EBP_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:EBP_HUMAN pepcoil swissprot:EBP_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:EBP_HUMAN pepdigest swissprot:EBP_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:EBP_HUMAN pepinfo swissprot:EBP_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:EBP_HUMAN pepnet swissprot:EBP_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:EBP_HUMAN pepstats swissprot:EBP_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:EBP_HUMAN pepwheel swissprot:EBP_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:EBP_HUMAN pepwindow swissprot:EBP_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:EBP_HUMAN sigcleave swissprot:EBP_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:EBP_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS KCMB1_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q16558-1; Sequence=Displayed; Name=2; IsoId=Q16558-2; Sequence=VSP_009822, VSP_009823; Note=No experimental confirmation available.; # AltName KCMB1_HUMAN BK channel subunit beta-1 # AltName KCMB1_HUMAN Calcium-activated potassium channel, subfamily M subunit beta-1 # AltName KCMB1_HUMAN Charybdotoxin receptor subunit beta-1 # AltName KCMB1_HUMAN K(VCA)beta-1 # AltName KCMB1_HUMAN Maxi K channel subunit beta-1 # AltName KCMB1_HUMAN Slo-beta-1 # BioGrid 109980 4 # CCDS CCDS4373 -. [Q16558-1] # DrugBank DB00721 Procaine # DrugBank DB01110 Miconazole # Ensembl ENST00000274629 ENSP00000274629; ENSG00000145936. [Q16558-1] # Ensembl ENST00000521859 ENSP00000427940; ENSG00000145936. [Q16558-2] # FUNCTION KCMB1_HUMAN Regulatory subunit of the calcium activated potassium KCNMA1 (maxiK) channel. Modulates the calcium sensitivity and gating kinetics of KCNMA1, thereby contributing to KCNMA1 channel diversity. Increases the apparent Ca(2+)/voltage sensitivity of the KCNMA1 channel. It also modifies KCNMA1 channel kinetics and alters its pharmacological properties. It slows down the activation and the deactivation kinetics of the channel. Acts as a negative regulator of smooth muscle contraction by enhancing the calcium sensitivity to KCNMA1. Its presence is also a requirement for internal binding of the KCNMA1 channel opener dehydrosoyasaponin I (DHS-1) triterpene glycoside and for external binding of the agonist hormone 17-beta-estradiol (E2). Increases the binding activity of charybdotoxin (CTX) toxin to KCNMA1 peptide blocker by increasing the CTX association rate and decreasing the dissociation rate. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0008076 voltage-gated potassium channel complex; IBA:GO_Central. # GO_function GO:0015269 calcium-activated potassium channel activity; TAS:ProtInc. # GO_function GO:0015459 potassium channel regulator activity; TAS:ProtInc. # GO_process GO:0005513 detection of calcium ion; IBA:GO_Central. # GO_process GO:0006813 potassium ion transport; TAS:ProtInc. # GO_process GO:0007268 chemical synaptic transmission; TAS:ProtInc. # GO_process GO:0007568 aging; IEA:Ensembl. # GO_process GO:0045909 positive regulation of vasodilation; IEA:Ensembl. # GO_process GO:0071361 cellular response to ethanol; IEA:Ensembl. # GO_process GO:0071456 cellular response to hypoxia; IEA:Ensembl. # GO_process GO:1901381 positive regulation of potassium ion transmembrane transport; IEA:Ensembl. # GO_process GO:1903413 cellular response to bile acid; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0003013 circulatory system process # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0007568 aging # GOslim_process GO:0008150 biological_process # Genevisible Q16558 HS # HGNC HGNC:6285 KCNMB1 # InterPro IPR003930 K_chnl_Ca-activ_BK_bsu # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04270 Vascular smooth muscle contraction # MIM 603951 gene # MIM 608622 phenotype # Organism KCMB1_HUMAN Homo sapiens (Human) # PANTHER PTHR10258 PTHR10258 # PIR S68842 S68842 # POLYMORPHISM Genetic variation in KCNMB1 can influence the severity of diastolic hypertension (PubMed:15057310). {ECO 0000269|PubMed:15057310}. # PRINTS PR01450 BKCHANNELB # PTM KCMB1_HUMAN N-glycosylated. {ECO 0000269|PubMed 10792058}. # Pfam PF03185 CaKB # Proteomes UP000005640 Chromosome 5 # Reactome R-HSA-1296052 Ca2+ activated K+ channels # Reactome R-HSA-418457 cGMP effects # RecName KCMB1_HUMAN Calcium-activated potassium channel subunit beta-1 # RefSeq NP_004128 NM_004137.3. [Q16558-1] # SIMILARITY Belongs to the KCNMB (TC 8.A.14.1) family. KCNMB1 subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION KCMB1_HUMAN Membrane; Multi-pass membrane protein. # SUBUNIT KCMB1_HUMAN Interacts with KCNMA1 tetramer. There are probably 4 molecules of KCMNB1 per KCNMA1 tetramer. # TCDB 8.A.14.1 the ca(2+)-activated k(+) channel auxiliary subunit slowpoke-Beta (sloBeta) family # TISSUE SPECIFICITY KCMB1_HUMAN Abundantly expressed in smooth muscle. Low levels of expression in most other tissues. Within the brain, relatively high levels found in hippocampus and corpus callosum. # UCSC uc003maq human. [Q16558-1] # eggNOG ENOG410IWME Eukaryota # eggNOG ENOG41116AX LUCA BLAST swissprot:KCMB1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCMB1_HUMAN BioCyc ZFISH:ENSG00000145936-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000145936-MONOMER COXPRESdb 3779 http://coxpresdb.jp/data/gene/3779.shtml CleanEx HS_KCNMB1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNMB1 DOI 10.1016/0014-5793(96)00151-2 http://dx.doi.org/10.1016/0014-5793(96)00151-2 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.100118597 http://dx.doi.org/10.1073/pnas.100118597 DOI 10.1073/pnas.93.17.9200 http://dx.doi.org/10.1073/pnas.93.17.9200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.285.5435.1929 http://dx.doi.org/10.1126/science.285.5435.1929 DOI 10.1152/nips.01387.2002 http://dx.doi.org/10.1152/nips.01387.2002 DOI 10.1172/JCI200420347 http://dx.doi.org/10.1172/JCI200420347 DrugBank DB00721 http://www.drugbank.ca/drugs/DB00721 DrugBank DB01110 http://www.drugbank.ca/drugs/DB01110 EMBL AF026002 http://www.ebi.ac.uk/ena/data/view/AF026002 EMBL AK313979 http://www.ebi.ac.uk/ena/data/view/AK313979 EMBL AY044441 http://www.ebi.ac.uk/ena/data/view/AY044441 EMBL AY515264 http://www.ebi.ac.uk/ena/data/view/AY515264 EMBL BC025707 http://www.ebi.ac.uk/ena/data/view/BC025707 EMBL CH471062 http://www.ebi.ac.uk/ena/data/view/CH471062 EMBL U25138 http://www.ebi.ac.uk/ena/data/view/U25138 EMBL U38907 http://www.ebi.ac.uk/ena/data/view/U38907 EMBL U42600 http://www.ebi.ac.uk/ena/data/view/U42600 EMBL U42601 http://www.ebi.ac.uk/ena/data/view/U42601 EMBL U42602 http://www.ebi.ac.uk/ena/data/view/U42602 EMBL U42603 http://www.ebi.ac.uk/ena/data/view/U42603 EMBL U61536 http://www.ebi.ac.uk/ena/data/view/U61536 EMBL U61537 http://www.ebi.ac.uk/ena/data/view/U61537 Ensembl ENST00000274629 http://www.ensembl.org/id/ENST00000274629 Ensembl ENST00000521859 http://www.ensembl.org/id/ENST00000521859 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0008076 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008076 GO_function GO:0015269 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015269 GO_function GO:0015459 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015459 GO_process GO:0005513 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005513 GO_process GO:0006813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006813 GO_process GO:0007268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007268 GO_process GO:0007568 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007568 GO_process GO:0045909 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045909 GO_process GO:0071361 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071361 GO_process GO:0071456 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071456 GO_process GO:1901381 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1901381 GO_process GO:1903413 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903413 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0003013 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003013 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0007568 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007568 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GeneCards KCNMB1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNMB1 GeneID 3779 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=3779 GeneTree ENSGT00390000015997 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000015997 HGNC HGNC:6285 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6285 HOVERGEN HBG052223 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052223&db=HOVERGEN HPA HPA020435 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA020435 InParanoid Q16558 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q16558 IntAct Q16558 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q16558* InterPro IPR003930 http://www.ebi.ac.uk/interpro/entry/IPR003930 Jabion 3779 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=3779 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:3779 http://www.genome.jp/dbget-bin/www_bget?hsa:3779 KEGG_Orthology KO:K04937 http://www.genome.jp/dbget-bin/www_bget?KO:K04937 KEGG_Pathway ko04270 http://www.genome.jp/kegg-bin/show_pathway?ko04270 MIM 603951 http://www.ncbi.nlm.nih.gov/omim/603951 MIM 608622 http://www.ncbi.nlm.nih.gov/omim/608622 MINT MINT-1470084 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1470084 OMA AMLYHTE http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=AMLYHTE OrthoDB EOG091G0MVO http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0MVO PANTHER PTHR10258 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10258 PRINTS PR01450 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01450 PSORT swissprot:KCMB1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCMB1_HUMAN PSORT-B swissprot:KCMB1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCMB1_HUMAN PSORT2 swissprot:KCMB1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCMB1_HUMAN Pfam PF03185 http://pfam.xfam.org/family/PF03185 PharmGKB PA221 http://www.pharmgkb.org/do/serve?objId=PA221&objCls=Gene Phobius swissprot:KCMB1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCMB1_HUMAN PhylomeDB Q16558 http://phylomedb.org/?seqid=Q16558 ProteinModelPortal Q16558 http://www.proteinmodelportal.org/query/uniprot/Q16558 PubMed 10489376 http://www.ncbi.nlm.nih.gov/pubmed/10489376 PubMed 10792058 http://www.ncbi.nlm.nih.gov/pubmed/10792058 PubMed 12136044 http://www.ncbi.nlm.nih.gov/pubmed/12136044 PubMed 12434576 http://www.ncbi.nlm.nih.gov/pubmed/12434576 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15057310 http://www.ncbi.nlm.nih.gov/pubmed/15057310 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 8612769 http://www.ncbi.nlm.nih.gov/pubmed/8612769 PubMed 8764643 http://www.ncbi.nlm.nih.gov/pubmed/8764643 PubMed 8799178 http://www.ncbi.nlm.nih.gov/pubmed/8799178 Reactome R-HSA-1296052 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1296052 Reactome R-HSA-418457 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-418457 RefSeq NP_004128 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004128 STRING 9606.ENSP00000274629 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000274629&targetmode=cogs TCDB 8.A.14.1 http://www.tcdb.org/search/result.php?tc=8.A.14.1 UCSC uc003maq http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003maq&org=rat UniGene Hs.484099 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.484099 UniGene Hs.744947 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.744947 UniProtKB KCMB1_HUMAN http://www.uniprot.org/uniprot/KCMB1_HUMAN UniProtKB-AC Q16558 http://www.uniprot.org/uniprot/Q16558 charge swissprot:KCMB1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCMB1_HUMAN eggNOG ENOG410IWME http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IWME eggNOG ENOG41116AX http://eggnogapi.embl.de/nog_data/html/tree/ENOG41116AX epestfind swissprot:KCMB1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCMB1_HUMAN garnier swissprot:KCMB1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCMB1_HUMAN helixturnhelix swissprot:KCMB1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCMB1_HUMAN hmoment swissprot:KCMB1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCMB1_HUMAN iep swissprot:KCMB1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCMB1_HUMAN inforesidue swissprot:KCMB1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCMB1_HUMAN neXtProt NX_Q16558 http://www.nextprot.org/db/entry/NX_Q16558 octanol swissprot:KCMB1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCMB1_HUMAN pepcoil swissprot:KCMB1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCMB1_HUMAN pepdigest swissprot:KCMB1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCMB1_HUMAN pepinfo swissprot:KCMB1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCMB1_HUMAN pepnet swissprot:KCMB1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCMB1_HUMAN pepstats swissprot:KCMB1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCMB1_HUMAN pepwheel swissprot:KCMB1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCMB1_HUMAN pepwindow swissprot:KCMB1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCMB1_HUMAN sigcleave swissprot:KCMB1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCMB1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS GRIK2_HUMAN Event=Alternative splicing; Named isoforms=7; Name=1; Synonyms=A; IsoId=Q13002-1; Sequence=Displayed; Name=2; Synonyms=B; IsoId=Q13002-2; Sequence=VSP_022335; Name=3; IsoId=Q13002-3; Sequence=VSP_022337; Name=4; IsoId=Q13002-4; Sequence=VSP_022334; Name=5; Synonyms=C; IsoId=Q13002-5; Sequence=VSP_022336; Name=6; Synonyms=D; IsoId=Q13002-6; Sequence=VSP_044388, VSP_022335; Note=Seems to be specific for non-neuronal cells. May not function as active channel.; Name=7; Synonyms=E; IsoId=Q13002-7; Sequence=VSP_044389, VSP_022336; Note=Seems to be specific for non-neuronal cells. May not function as active channel.; # AltName GRIK2_HUMAN Excitatory amino acid receptor 4 # AltName GRIK2_HUMAN Glutamate receptor 6 # BioGrid 109155 13 # CCDS CCDS5048 -. [Q13002-1] # CCDS CCDS5049 -. [Q13002-2] # CCDS CCDS55045 -. [Q13002-5] # DISEASE GRIK2_HUMAN Mental retardation, autosomal recessive 6 (MRT6) [MIM 611092] A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. In contrast to syndromic or specific mental retardation which also present with associated physical, neurological and/or psychiatric manifestations, intellectual deficiency is the only primary symptom of non-syndromic mental retardation. MRT6 patients display mild to severe mental retardation and psychomotor development delay in early childhood. Patients do not have neurologic problems, congenital malformations, or facial dysmorphism. Body height, weight, and head circumference are normal. {ECO 0000269|PubMed 17847003}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DrugBank DB00237 Butabarbital # DrugBank DB00241 Butalbital # DrugBank DB00306 Talbutal # DrugBank DB00312 Pentobarbital # DrugBank DB00418 Secobarbital # DrugBank DB00599 Thiopental # DrugBank DB00794 Primidone # DrugBank DB00849 Methylphenobarbital # DrugBank DB01174 Phenobarbital # DrugBank DB01351 Amobarbital # DrugBank DB01352 Aprobarbital # DrugBank DB01353 Butethal # DrugBank DB01354 Heptabarbital # DrugBank DB01355 Hexobarbital # Ensembl ENST00000369138 ENSP00000358134; ENSG00000164418. [Q13002-5] # Ensembl ENST00000413795 ENSP00000405596; ENSG00000164418. [Q13002-2] # Ensembl ENST00000421544 ENSP00000397026; ENSG00000164418. [Q13002-1] # ExpressionAtlas Q13002 baseline and differential # FUNCTION GRIK2_HUMAN Ionotropic glutamate receptor. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. Binding of the excitatory neurotransmitter L- glutamate induces a conformation change, leading to the opening of the cation channel, and thereby converts the chemical signal to an electrical impulse. The receptor then desensitizes rapidly and enters a transient inactive state, characterized by the presence of bound agonist. May be involved in the transmission of light information from the retina to the hypothalamus. Modulates cell surface expression of NETO2 (By similarity). {ECO 0000250}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0014069 postsynaptic density; IEA:Ensembl. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0032839 dendrite cytoplasm; IEA:Ensembl. # GO_component GO:0032983 kainate selective glutamate receptor complex; IEA:Ensembl. # GO_component GO:0042734 presynaptic membrane; IEA:Ensembl. # GO_component GO:0043195 terminal bouton; IEA:Ensembl. # GO_component GO:0043204 perikaryon; IEA:Ensembl. # GO_component GO:0045211 postsynaptic membrane; IEA:UniProtKB-SubCell. # GO_function GO:0005234 extracellular-glutamate-gated ion channel activity; IEA:InterPro. # GO_function GO:0015276 ligand-gated ion channel activity; TAS:Reactome. # GO_function GO:0015277 kainate selective glutamate receptor activity; IDA:UniProtKB. # GO_process GO:0001662 behavioral fear response; IEA:Ensembl. # GO_process GO:0006810 transport; NAS:ProtInc. # GO_process GO:0006874 cellular calcium ion homeostasis; IEA:Ensembl. # GO_process GO:0006886 intracellular protein transport; IEA:Ensembl. # GO_process GO:0007215 glutamate receptor signaling pathway; TAS:ProtInc. # GO_process GO:0007268 chemical synaptic transmission; TAS:ProtInc. # GO_process GO:0019228 neuronal action potential; IEA:Ensembl. # GO_process GO:0035249 synaptic transmission, glutamatergic; IEA:Ensembl. # GO_process GO:0043113 receptor clustering; IEA:Ensembl. # GO_process GO:0043524 negative regulation of neuron apoptotic process; IEA:Ensembl. # GO_process GO:0043525 positive regulation of neuron apoptotic process; IEA:Ensembl. # GO_process GO:0046328 regulation of JNK cascade; IEA:Ensembl. # GO_process GO:0048169 regulation of long-term neuronal synaptic plasticity; IEA:Ensembl. # GO_process GO:0048172 regulation of short-term neuronal synaptic plasticity; IMP:UniProtKB. # GO_process GO:0050804 modulation of synaptic transmission; IDA:UniProtKB. # GO_process GO:0050806 positive regulation of synaptic transmission; IMP:UniProtKB. # GO_process GO:0051402 neuron apoptotic process; IEA:Ensembl. # GO_process GO:0051967 negative regulation of synaptic transmission, glutamatergic; IEA:Ensembl. # GO_process GO:0060079 excitatory postsynaptic potential; IEA:Ensembl. # GO_process GO:0060080 inhibitory postsynaptic potential; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # GOslim_process GO:0008219 cell death # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0061024 membrane organization # Genevisible Q13002 HS # HGNC HGNC:4580 GRIK2 # IntAct Q13002 2 # InterPro IPR001320 Iontro_rcpt # InterPro IPR001508 Iono_rcpt_met # InterPro IPR001828 ANF_lig-bd_rcpt # InterPro IPR019594 Glu/Gly-bd # InterPro IPR028082 Peripla_BP_I # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00768 [Congenital disorder; Mental retardation] Nonsyndromic autosomal recessive mental retardation (NS-ARMR) # KEGG_Pathway ko04080 Neuroactive ligand-receptor interaction # KEGG_Pathway ko04724 Glutamatergic synapse # MIM 138244 gene # MIM 611092 phenotype # MISCELLANEOUS GRIK2_HUMAN The postsynaptic actions of Glu are mediated by a variety of receptors that are named according to their selective agonists. This receptor binds domoate > kainate > quisqualate > 6- cyano-7-nitroquinoxaline-2,3-dione > L-glutamate = 6,7- dinitroquinoxaline-2,3-dione > dihydrokainate. # Organism GRIK2_HUMAN Homo sapiens (Human) # Orphanet 88616 Autosomal recessive non-syndromic intellectual disability # PDB 3QXM X-ray; 1.65 A; A/B=429-544, A/B=667-806 # PDB 5CMM X-ray; 1.27 A; A=667-806 # PIR A54260 A54260 # PRINTS PR00177 NMDARECEPTOR # PTM GRIK2_HUMAN Phosphorylated by PKC at Ser-868 upon agonist activation, this directly enhance sumoylation. {ECO 0000269|PubMed 22808340}. # PTM GRIK2_HUMAN Sumoylation mediates kainate receptor-mediated endocytosis and regulates synaptic transmission. Sumoylation is enhanced by PIAS3 and desumoylated by SENP1 (By similarity). {ECO 0000250}. # PTM GRIK2_HUMAN Ubiquitinated. Ubiquitination regulates the GRIK2 levels at the synapse by leading kainate receptor degradation through proteasome (By similarity). {ECO 0000250}. # Pfam PF00060 Lig_chan # Pfam PF01094 ANF_receptor # Pfam PF10613 Lig_chan-Glu_bd # Proteomes UP000005640 Chromosome 6 # RNA EDITING GRIK2_HUMAN Modified_positions=567 {ECO 0000269|PubMed 7696618}, 571 {ECO 0000269|PubMed 7696618}, 621 {ECO 0000269|PubMed 7523595, ECO 0000269|PubMed 7696618}; Note=Partially edited. The presence of Gln at position 621 (non-edited) determines channels with low calcium permeability, whereas Arg (edited) determines a higher calcium permeability especially if the preceding sites are fully edited. This receptor is nearly completely edited in all gray matter structures (90% of the receptors), whereas much less edited in the white matter (10% of the receptors).; # Reactome R-HSA-451307 Activation of Na-permeable Kainate Receptors # Reactome R-HSA-451308 Activation of Ca-permeable Kainate Receptor # RecName GRIK2_HUMAN Glutamate receptor ionotropic, kainate 2 # RefSeq NP_001159719 NM_001166247.1. [Q13002-5] # RefSeq NP_068775 NM_021956.4. [Q13002-1] # RefSeq NP_786944 NM_175768.3. [Q13002-2] # RefSeq XP_005267002 XM_005266945.2. [Q13002-1] # RefSeq XP_011534079 XM_011535777.2. [Q13002-5] # RefSeq XP_011534080 XM_011535778.2. [Q13002-2] # SIMILARITY Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. GRIK2 subfamily. {ECO 0000305}. # SMART SM00079 PBPe # SMART SM00918 Lig_chan-Glu_bd # SUBCELLULAR LOCATION GRIK2_HUMAN Cell membrane; Multi-pass membrane protein. Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. # SUBUNIT Homotetramer or heterotetramer of pore-forming glutamate receptor subunits. Tetramers may be formed by the dimerization of dimers (Probable). Assembles into a kainate-gated homomeric channel that does not bind AMPA. GRIK2 associated to GRIK5 forms functional channels that can be gated by AMPA (By similarity). Interacts with DLG4. Interacts with NETO2 (By similarity). Interacts (via C-terminus) with KLHL17 (via kelch repeats); the interaction targets GRIK2 for degradation via ubiquitin-proteasome pathway (By similarity). {ECO:0000250, ECO 0000305}. # SUPFAM SSF53822 SSF53822 # TISSUE SPECIFICITY GRIK2_HUMAN Expression is higher in cerebellum than in cerebral cortex. # UCSC uc003pqo human. [Q13002-1] # eggNOG ENOG410XPSH LUCA # eggNOG KOG1054 Eukaryota BLAST swissprot:GRIK2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:GRIK2_HUMAN COXPRESdb 2898 http://coxpresdb.jp/data/gene/2898.shtml CleanEx HS_GRIK2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_GRIK2 DOI 10.1006/geno.1994.1198 http://dx.doi.org/10.1006/geno.1994.1198 DOI 10.1016/S0378-1119(01)00611-4 http://dx.doi.org/10.1016/S0378-1119(01)00611-4 DOI 10.1016/j.gene.2010.03.002 http://dx.doi.org/10.1016/j.gene.2010.03.002 DOI 10.1016/j.jmb.2011.08.043 http://dx.doi.org/10.1016/j.jmb.2011.08.043 DOI 10.1038/nature02055 http://dx.doi.org/10.1038/nature02055 DOI 10.1074/jbc.M109453200 http://dx.doi.org/10.1074/jbc.M109453200 DOI 10.1086/521275 http://dx.doi.org/10.1086/521275 DOI 10.1126/science.1133427 http://dx.doi.org/10.1126/science.1133427 DOI 10.4161/cib.19195 http://dx.doi.org/10.4161/cib.19195 DrugBank DB00237 http://www.drugbank.ca/drugs/DB00237 DrugBank DB00241 http://www.drugbank.ca/drugs/DB00241 DrugBank DB00306 http://www.drugbank.ca/drugs/DB00306 DrugBank DB00312 http://www.drugbank.ca/drugs/DB00312 DrugBank DB00418 http://www.drugbank.ca/drugs/DB00418 DrugBank DB00599 http://www.drugbank.ca/drugs/DB00599 DrugBank DB00794 http://www.drugbank.ca/drugs/DB00794 DrugBank DB00849 http://www.drugbank.ca/drugs/DB00849 DrugBank DB01174 http://www.drugbank.ca/drugs/DB01174 DrugBank DB01351 http://www.drugbank.ca/drugs/DB01351 DrugBank DB01352 http://www.drugbank.ca/drugs/DB01352 DrugBank DB01353 http://www.drugbank.ca/drugs/DB01353 DrugBank DB01354 http://www.drugbank.ca/drugs/DB01354 DrugBank DB01355 http://www.drugbank.ca/drugs/DB01355 EMBL AJ252246 http://www.ebi.ac.uk/ena/data/view/AJ252246 EMBL AJ301608 http://www.ebi.ac.uk/ena/data/view/AJ301608 EMBL AJ301609 http://www.ebi.ac.uk/ena/data/view/AJ301609 EMBL AJ301610 http://www.ebi.ac.uk/ena/data/view/AJ301610 EMBL AL109919 http://www.ebi.ac.uk/ena/data/view/AL109919 EMBL AP002528 http://www.ebi.ac.uk/ena/data/view/AP002528 EMBL AP002529 http://www.ebi.ac.uk/ena/data/view/AP002529 EMBL AP002530 http://www.ebi.ac.uk/ena/data/view/AP002530 EMBL CH471051 http://www.ebi.ac.uk/ena/data/view/CH471051 EMBL HM149335 http://www.ebi.ac.uk/ena/data/view/HM149335 EMBL HM149336 http://www.ebi.ac.uk/ena/data/view/HM149336 EMBL HM149337 http://www.ebi.ac.uk/ena/data/view/HM149337 EMBL HM149338 http://www.ebi.ac.uk/ena/data/view/HM149338 EMBL HM149339 http://www.ebi.ac.uk/ena/data/view/HM149339 EMBL U16126 http://www.ebi.ac.uk/ena/data/view/U16126 Ensembl ENST00000369138 http://www.ensembl.org/id/ENST00000369138 Ensembl ENST00000413795 http://www.ensembl.org/id/ENST00000413795 Ensembl ENST00000421544 http://www.ensembl.org/id/ENST00000421544 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0014069 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014069 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0032839 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032839 GO_component GO:0032983 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032983 GO_component GO:0042734 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042734 GO_component GO:0043195 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043195 GO_component GO:0043204 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043204 GO_component GO:0045211 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045211 GO_function GO:0005234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005234 GO_function GO:0015276 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015276 GO_function GO:0015277 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015277 GO_process GO:0001662 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001662 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0006874 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006874 GO_process GO:0006886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006886 GO_process GO:0007215 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007215 GO_process GO:0007268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007268 GO_process GO:0019228 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019228 GO_process GO:0035249 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035249 GO_process GO:0043113 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043113 GO_process GO:0043524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043524 GO_process GO:0043525 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043525 GO_process GO:0046328 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046328 GO_process GO:0048169 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048169 GO_process GO:0048172 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048172 GO_process GO:0050804 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050804 GO_process GO:0050806 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050806 GO_process GO:0051402 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051402 GO_process GO:0051967 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051967 GO_process GO:0060079 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060079 GO_process GO:0060080 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060080 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0008219 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008219 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0061024 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061024 GeneCards GRIK2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=GRIK2 GeneID 2898 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=2898 GeneTree ENSGT00760000118920 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118920 H-InvDB HIX0006094 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0006094 HGNC HGNC:4580 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:4580 HOGENOM HOG000234371 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000234371&db=HOGENOM6 HOVERGEN HBG051839 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG051839&db=HOVERGEN HPA CAB022463 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB022463 HPA HPA014395 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA014395 HPA HPA014623 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA014623 InParanoid Q13002 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q13002 IntAct Q13002 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q13002* InterPro IPR001320 http://www.ebi.ac.uk/interpro/entry/IPR001320 InterPro IPR001508 http://www.ebi.ac.uk/interpro/entry/IPR001508 InterPro IPR001828 http://www.ebi.ac.uk/interpro/entry/IPR001828 InterPro IPR019594 http://www.ebi.ac.uk/interpro/entry/IPR019594 InterPro IPR028082 http://www.ebi.ac.uk/interpro/entry/IPR028082 Jabion 2898 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=2898 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00768 http://www.genome.jp/dbget-bin/www_bget?H00768 KEGG_Gene hsa:2898 http://www.genome.jp/dbget-bin/www_bget?hsa:2898 KEGG_Orthology KO:K05202 http://www.genome.jp/dbget-bin/www_bget?KO:K05202 KEGG_Pathway ko04080 http://www.genome.jp/kegg-bin/show_pathway?ko04080 KEGG_Pathway ko04724 http://www.genome.jp/kegg-bin/show_pathway?ko04724 MIM 138244 http://www.ncbi.nlm.nih.gov/omim/138244 MIM 611092 http://www.ncbi.nlm.nih.gov/omim/611092 OMA VFRCTIR http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=VFRCTIR Orphanet 88616 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=88616 OrthoDB EOG091G02LN http://cegg.unige.ch/orthodb/results?searchtext=EOG091G02LN PDB 3QXM http://www.ebi.ac.uk/pdbe-srv/view/entry/3QXM PDB 5CMM http://www.ebi.ac.uk/pdbe-srv/view/entry/5CMM PDBsum 3QXM http://www.ebi.ac.uk/pdbsum/3QXM PDBsum 5CMM http://www.ebi.ac.uk/pdbsum/5CMM PRINTS PR00177 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00177 PSORT swissprot:GRIK2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:GRIK2_HUMAN PSORT-B swissprot:GRIK2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:GRIK2_HUMAN PSORT2 swissprot:GRIK2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:GRIK2_HUMAN Pfam PF00060 http://pfam.xfam.org/family/PF00060 Pfam PF01094 http://pfam.xfam.org/family/PF01094 Pfam PF10613 http://pfam.xfam.org/family/PF10613 PharmGKB PA164741600 http://www.pharmgkb.org/do/serve?objId=PA164741600&objCls=Gene Phobius swissprot:GRIK2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:GRIK2_HUMAN PhylomeDB Q13002 http://phylomedb.org/?seqid=Q13002 ProteinModelPortal Q13002 http://www.proteinmodelportal.org/query/uniprot/Q13002 PubMed 11675011 http://www.ncbi.nlm.nih.gov/pubmed/11675011 PubMed 11744724 http://www.ncbi.nlm.nih.gov/pubmed/11744724 PubMed 14574404 http://www.ncbi.nlm.nih.gov/pubmed/14574404 PubMed 16959974 http://www.ncbi.nlm.nih.gov/pubmed/16959974 PubMed 17847003 http://www.ncbi.nlm.nih.gov/pubmed/17847003 PubMed 20230879 http://www.ncbi.nlm.nih.gov/pubmed/20230879 PubMed 21893069 http://www.ncbi.nlm.nih.gov/pubmed/21893069 PubMed 22808340 http://www.ncbi.nlm.nih.gov/pubmed/22808340 PubMed 7523595 http://www.ncbi.nlm.nih.gov/pubmed/7523595 PubMed 7536611 http://www.ncbi.nlm.nih.gov/pubmed/7536611 PubMed 7696618 http://www.ncbi.nlm.nih.gov/pubmed/7696618 PubMed 8034316 http://www.ncbi.nlm.nih.gov/pubmed/8034316 Reactome R-HSA-451307 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-451307 Reactome R-HSA-451308 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-451308 RefSeq NP_001159719 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001159719 RefSeq NP_068775 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_068775 RefSeq NP_786944 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_786944 RefSeq XP_005267002 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005267002 RefSeq XP_011534079 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011534079 RefSeq XP_011534080 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011534080 SMART SM00079 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00079 SMART SM00918 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00918 SMR Q13002 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q13002 STRING 9606.ENSP00000397026 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000397026&targetmode=cogs SUPFAM SSF53822 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF53822 UCSC uc003pqo http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003pqo&org=rat UniGene Hs.98262 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.98262 UniProtKB GRIK2_HUMAN http://www.uniprot.org/uniprot/GRIK2_HUMAN UniProtKB-AC Q13002 http://www.uniprot.org/uniprot/Q13002 charge swissprot:GRIK2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:GRIK2_HUMAN eggNOG ENOG410XPSH http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XPSH eggNOG KOG1054 http://eggnogapi.embl.de/nog_data/html/tree/KOG1054 epestfind swissprot:GRIK2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:GRIK2_HUMAN garnier swissprot:GRIK2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:GRIK2_HUMAN helixturnhelix swissprot:GRIK2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:GRIK2_HUMAN hmoment swissprot:GRIK2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:GRIK2_HUMAN iep swissprot:GRIK2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:GRIK2_HUMAN inforesidue swissprot:GRIK2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:GRIK2_HUMAN neXtProt NX_Q13002 http://www.nextprot.org/db/entry/NX_Q13002 octanol swissprot:GRIK2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:GRIK2_HUMAN pepcoil swissprot:GRIK2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:GRIK2_HUMAN pepdigest swissprot:GRIK2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:GRIK2_HUMAN pepinfo swissprot:GRIK2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:GRIK2_HUMAN pepnet swissprot:GRIK2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:GRIK2_HUMAN pepstats swissprot:GRIK2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:GRIK2_HUMAN pepwheel swissprot:GRIK2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:GRIK2_HUMAN pepwindow swissprot:GRIK2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:GRIK2_HUMAN sigcleave swissprot:GRIK2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:GRIK2_HUMAN ## Database ID URL or Descriptions # AltName CTR3_HUMAN Cationic amino acid transporter y+ # AltName CTR3_HUMAN Solute carrier family 7 member 3 # BioGrid 124329 14 # DrugBank DB00123 L-Lysine # DrugBank DB00125 L-Arginine # DrugBank DB00129 L-Ornithine # Ensembl ENST00000298085 ENSP00000298085; ENSG00000165349 # Ensembl ENST00000374299 ENSP00000363417; ENSG00000165349 # FUNCTION CTR3_HUMAN Mediates the uptake of the cationic amino acids arginine, lysine and ornithine in a sodium-independent manner. {ECO 0000269|PubMed 11591158}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_function GO:0000064 L-ornithine transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015171 amino acid transmembrane transporter activity; TAS:Reactome. # GO_function GO:0015181 arginine transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015189 L-lysine transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015297 antiporter activity; IBA:GO_Central. # GO_process GO:0006865 amino acid transport; TAS:Reactome. # GO_process GO:0015809 arginine transport; IEA:Ensembl. # GO_process GO:1903352 L-ornithine transmembrane transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0055085 transmembrane transport # Genevisible Q8WY07 HS # HGNC HGNC:11061 SLC7A3 # InterPro IPR002293 AA/rel_permease1 # InterPro IPR004755 Cat_AA_permease # InterPro IPR015606 CAT3 # InterPro IPR029485 CAT_C # KEGG_Brite ko02001 Solute carrier family # MIM 300443 gene # Organism CTR3_HUMAN Homo sapiens (Human) # PANTHER PTHR11785 PTHR11785; 3 # PANTHER PTHR11785:SF209 PTHR11785:SF209; 3 # PTM CTR3_HUMAN N-glycosylated. {ECO 0000269|PubMed 11591158}. # Pfam PF13520 AA_permease_2 # Pfam PF13906 AA_permease_C # Proteomes UP000005640 Chromosome X # Reactome R-HSA-352230 Amino acid transport across the plasma membrane # RecName CTR3_HUMAN Cationic amino acid transporter 3 # RefSeq NP_001041629 NM_001048164.2 # RefSeq NP_116192 NM_032803.5 # RefSeq XP_016885401 XM_017029912.1 # SEQUENCE CAUTION Sequence=BAB55118.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the amino acid-polyamine-organocation (APC) superfamily. Cationic amino acid transporter (CAT) (TC 2.A.3.3) family. {ECO 0000305}. # SUBCELLULAR LOCATION CTR3_HUMAN Cell membrane; Multi-pass membrane protein. # TCDB 2.A.3.3.10 the amino acid-polyamine-organocation (apc) family # TIGRFAMs TIGR00906 2A0303 # TISSUE SPECIFICITY Highly expressed in thymus, uterus and testis. Detected at lower levels in brain, mammary gland, prostate, salivary gland and fetal spleen. In brain, highest expression in thalamus, hippocampus and amygdala. {ECO:0000269|PubMed 11591158}. # UCSC uc004dyn human # eggNOG COG0531 LUCA # eggNOG KOG1286 Eukaryota BLAST swissprot:CTR3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CTR3_HUMAN BioCyc ZFISH:ENSG00000165349-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000165349-MONOMER COXPRESdb 84889 http://coxpresdb.jp/data/gene/84889.shtml CleanEx HS_SLC7A3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC7A3 DOI 10.1021/bi011345c http://dx.doi.org/10.1021/bi011345c DOI 10.1038/nature03440 http://dx.doi.org/10.1038/nature03440 DOI 10.1038/nature09639 http://dx.doi.org/10.1038/nature09639 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/scisignal.2001570 http://dx.doi.org/10.1126/scisignal.2001570 DrugBank DB00123 http://www.drugbank.ca/drugs/DB00123 DrugBank DB00125 http://www.drugbank.ca/drugs/DB00125 DrugBank DB00129 http://www.drugbank.ca/drugs/DB00129 EMBL AF320612 http://www.ebi.ac.uk/ena/data/view/AF320612 EMBL AK027447 http://www.ebi.ac.uk/ena/data/view/AK027447 EMBL AK074865 http://www.ebi.ac.uk/ena/data/view/AK074865 EMBL AK075014 http://www.ebi.ac.uk/ena/data/view/AK075014 EMBL AL627071 http://www.ebi.ac.uk/ena/data/view/AL627071 EMBL BC033816 http://www.ebi.ac.uk/ena/data/view/BC033816 EMBL CH471132 http://www.ebi.ac.uk/ena/data/view/CH471132 EMBL CH471132 http://www.ebi.ac.uk/ena/data/view/CH471132 Ensembl ENST00000298085 http://www.ensembl.org/id/ENST00000298085 Ensembl ENST00000374299 http://www.ensembl.org/id/ENST00000374299 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0000064 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000064 GO_function GO:0015171 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015171 GO_function GO:0015181 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015181 GO_function GO:0015189 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015189 GO_function GO:0015297 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015297 GO_process GO:0006865 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006865 GO_process GO:0015809 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015809 GO_process GO:1903352 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903352 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC7A3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC7A3 GeneID 84889 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=84889 GeneTree ENSGT00760000119151 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119151 HGNC HGNC:11061 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11061 HOGENOM HOG000250623 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000250623&db=HOGENOM6 HOVERGEN HBG000280 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG000280&db=HOVERGEN HPA HPA003629 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA003629 InParanoid Q8WY07 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8WY07 InterPro IPR002293 http://www.ebi.ac.uk/interpro/entry/IPR002293 InterPro IPR004755 http://www.ebi.ac.uk/interpro/entry/IPR004755 InterPro IPR015606 http://www.ebi.ac.uk/interpro/entry/IPR015606 InterPro IPR029485 http://www.ebi.ac.uk/interpro/entry/IPR029485 Jabion 84889 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=84889 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:84889 http://www.genome.jp/dbget-bin/www_bget?hsa:84889 KEGG_Orthology KO:K13865 http://www.genome.jp/dbget-bin/www_bget?KO:K13865 MIM 300443 http://www.ncbi.nlm.nih.gov/omim/300443 OMA YTGWAPA http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=YTGWAPA OrthoDB EOG091G05NM http://cegg.unige.ch/orthodb/results?searchtext=EOG091G05NM PANTHER PTHR11785 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11785 PANTHER PTHR11785:SF209 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11785:SF209 PSORT swissprot:CTR3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CTR3_HUMAN PSORT-B swissprot:CTR3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CTR3_HUMAN PSORT2 swissprot:CTR3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CTR3_HUMAN Pfam PF13520 http://pfam.xfam.org/family/PF13520 Pfam PF13906 http://pfam.xfam.org/family/PF13906 PharmGKB PA35921 http://www.pharmgkb.org/do/serve?objId=PA35921&objCls=Gene Phobius swissprot:CTR3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CTR3_HUMAN PhylomeDB Q8WY07 http://phylomedb.org/?seqid=Q8WY07 ProteinModelPortal Q8WY07 http://www.proteinmodelportal.org/query/uniprot/Q8WY07 PubMed 11591158 http://www.ncbi.nlm.nih.gov/pubmed/11591158 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15772651 http://www.ncbi.nlm.nih.gov/pubmed/15772651 PubMed 21248752 http://www.ncbi.nlm.nih.gov/pubmed/21248752 PubMed 21406692 http://www.ncbi.nlm.nih.gov/pubmed/21406692 Reactome R-HSA-352230 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-352230 RefSeq NP_001041629 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001041629 RefSeq NP_116192 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_116192 RefSeq XP_016885401 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016885401 STRING 9606.ENSP00000298085 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000298085&targetmode=cogs TCDB 2.A.3.3.10 http://www.tcdb.org/search/result.php?tc=2.A.3.3.10 TIGRFAMs TIGR00906 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00906 UCSC uc004dyn http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc004dyn&org=rat UniGene Hs.175220 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.175220 UniProtKB CTR3_HUMAN http://www.uniprot.org/uniprot/CTR3_HUMAN UniProtKB-AC Q8WY07 http://www.uniprot.org/uniprot/Q8WY07 charge swissprot:CTR3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CTR3_HUMAN eggNOG COG0531 http://eggnogapi.embl.de/nog_data/html/tree/COG0531 eggNOG KOG1286 http://eggnogapi.embl.de/nog_data/html/tree/KOG1286 epestfind swissprot:CTR3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CTR3_HUMAN garnier swissprot:CTR3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CTR3_HUMAN helixturnhelix swissprot:CTR3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CTR3_HUMAN hmoment swissprot:CTR3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CTR3_HUMAN iep swissprot:CTR3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CTR3_HUMAN inforesidue swissprot:CTR3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CTR3_HUMAN neXtProt NX_Q8WY07 http://www.nextprot.org/db/entry/NX_Q8WY07 octanol swissprot:CTR3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CTR3_HUMAN pepcoil swissprot:CTR3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CTR3_HUMAN pepdigest swissprot:CTR3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CTR3_HUMAN pepinfo swissprot:CTR3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CTR3_HUMAN pepnet swissprot:CTR3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CTR3_HUMAN pepstats swissprot:CTR3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CTR3_HUMAN pepwheel swissprot:CTR3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CTR3_HUMAN pepwindow swissprot:CTR3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CTR3_HUMAN sigcleave swissprot:CTR3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CTR3_HUMAN ## Database ID URL or Descriptions # BioGrid 125109 22 # ChiTaRS SFXN5 human # Ensembl ENST00000272433 ENSP00000272433; ENSG00000144040 # ExpressionAtlas Q8TD22 baseline and differential # FUNCTION SFXN5_HUMAN Transports citrate. Potential iron transporter (By similarity). {ECO 0000250}. # GO_component GO:0005743 mitochondrial inner membrane; IEA:Ensembl. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0015137 citrate transmembrane transporter activity; IEA:Ensembl. # GO_process GO:0055072 iron ion homeostasis; IEA:UniProtKB-KW. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0042592 homeostatic process # Genevisible Q8TD22 HS # HGNC HGNC:16073 SFXN5 # InterPro IPR004686 Mtc # MIM 615572 gene # Organism SFXN5_HUMAN Homo sapiens (Human) # PANTHER PTHR11153 PTHR11153 # Pfam PF03820 Mtc # Proteomes UP000005640 Chromosome 2 # RecName SFXN5_HUMAN Sideroflexin-5 # RefSeq NP_653180 NM_144579.2 # SIMILARITY Belongs to the sideroflexin family. {ECO 0000305}. # SUBCELLULAR LOCATION SFXN5_HUMAN Mitochondrion membrane {ECO 0000250}; Multi- pass membrane protein {ECO 0000250}. # TIGRFAMs TIGR00798 mtc # TISSUE SPECIFICITY Primarily expressed in the brain. {ECO:0000269|PubMed 12039050}. # UCSC uc002siq human # eggNOG ENOG410YU8V LUCA # eggNOG KOG3767 Eukaryota BLAST swissprot:SFXN5_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SFXN5_HUMAN BioCyc ZFISH:ENSG00000144040-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000144040-MONOMER COXPRESdb 94097 http://coxpresdb.jp/data/gene/94097.shtml CleanEx HS_SFXN5 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SFXN5 DOI 10.1016/S0378-1119(02)00402-X http://dx.doi.org/10.1016/S0378-1119(02)00402-X DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AC012366 http://www.ebi.ac.uk/ena/data/view/AC012366 EMBL AK289731 http://www.ebi.ac.uk/ena/data/view/AK289731 EMBL AY044437 http://www.ebi.ac.uk/ena/data/view/AY044437 EMBL BC101311 http://www.ebi.ac.uk/ena/data/view/BC101311 EMBL BC101312 http://www.ebi.ac.uk/ena/data/view/BC101312 EMBL BC101313 http://www.ebi.ac.uk/ena/data/view/BC101313 EMBL CH471053 http://www.ebi.ac.uk/ena/data/view/CH471053 Ensembl ENST00000272433 http://www.ensembl.org/id/ENST00000272433 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0015137 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015137 GO_process GO:0055072 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055072 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GeneCards SFXN5 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SFXN5 GeneID 94097 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=94097 GeneTree ENSGT00390000002026 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000002026 HGNC HGNC:16073 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:16073 HOGENOM HOG000203440 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000203440&db=HOGENOM6 HOVERGEN HBG056083 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG056083&db=HOVERGEN HPA HPA015473 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA015473 HPA HPA056866 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA056866 InParanoid Q8TD22 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8TD22 InterPro IPR004686 http://www.ebi.ac.uk/interpro/entry/IPR004686 Jabion 94097 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=94097 KEGG_Gene hsa:94097 http://www.genome.jp/dbget-bin/www_bget?hsa:94097 MIM 615572 http://www.ncbi.nlm.nih.gov/omim/615572 OMA AIMETAF http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=AIMETAF OrthoDB EOG091G0C6A http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0C6A PANTHER PTHR11153 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11153 PSORT swissprot:SFXN5_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SFXN5_HUMAN PSORT-B swissprot:SFXN5_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SFXN5_HUMAN PSORT2 swissprot:SFXN5_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SFXN5_HUMAN Pfam PF03820 http://pfam.xfam.org/family/PF03820 PharmGKB PA38088 http://www.pharmgkb.org/do/serve?objId=PA38088&objCls=Gene Phobius swissprot:SFXN5_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SFXN5_HUMAN PhylomeDB Q8TD22 http://phylomedb.org/?seqid=Q8TD22 ProteinModelPortal Q8TD22 http://www.proteinmodelportal.org/query/uniprot/Q8TD22 PubMed 12039050 http://www.ncbi.nlm.nih.gov/pubmed/12039050 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 RefSeq NP_653180 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_653180 STRING 9606.ENSP00000272433 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000272433&targetmode=cogs TIGRFAMs TIGR00798 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00798 UCSC uc002siq http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002siq&org=rat UniGene Hs.368171 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.368171 UniProtKB SFXN5_HUMAN http://www.uniprot.org/uniprot/SFXN5_HUMAN UniProtKB-AC Q8TD22 http://www.uniprot.org/uniprot/Q8TD22 charge swissprot:SFXN5_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SFXN5_HUMAN eggNOG ENOG410YU8V http://eggnogapi.embl.de/nog_data/html/tree/ENOG410YU8V eggNOG KOG3767 http://eggnogapi.embl.de/nog_data/html/tree/KOG3767 epestfind swissprot:SFXN5_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SFXN5_HUMAN garnier swissprot:SFXN5_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SFXN5_HUMAN helixturnhelix swissprot:SFXN5_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SFXN5_HUMAN hmoment swissprot:SFXN5_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SFXN5_HUMAN iep swissprot:SFXN5_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SFXN5_HUMAN inforesidue swissprot:SFXN5_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SFXN5_HUMAN neXtProt NX_Q8TD22 http://www.nextprot.org/db/entry/NX_Q8TD22 octanol swissprot:SFXN5_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SFXN5_HUMAN pepcoil swissprot:SFXN5_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SFXN5_HUMAN pepdigest swissprot:SFXN5_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SFXN5_HUMAN pepinfo swissprot:SFXN5_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SFXN5_HUMAN pepnet swissprot:SFXN5_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SFXN5_HUMAN pepstats swissprot:SFXN5_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SFXN5_HUMAN pepwheel swissprot:SFXN5_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SFXN5_HUMAN pepwindow swissprot:SFXN5_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SFXN5_HUMAN sigcleave swissprot:SFXN5_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SFXN5_HUMAN ## Database ID URL or Descriptions # AltName S35E3_HUMAN Bladder cancer-overexpressed gene 1 protein # ChiTaRS SLC35E3 human # Ensembl ENST00000398004 ENSP00000381089; ENSG00000175782 # ExpressionAtlas Q7Z769 baseline and differential # FUNCTION S35E3_HUMAN Putative transporter. {ECO 0000250}. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0005338 nucleotide-sugar transmembrane transporter activity; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # Genevisible Q7Z769 HS # HGNC HGNC:20864 SLC35E3 # InterPro IPR004853 Sugar_P_trans_dom # KEGG_Brite ko02001 Solute carrier family # Organism S35E3_HUMAN Homo sapiens (Human) # Pfam PF03151 TPT # Proteomes UP000005640 Chromosome 12 # RecName S35E3_HUMAN Solute carrier family 35 member E3 # RefSeq NP_061126 NM_018656.2 # SEQUENCE CAUTION Sequence=AAF73127.1; Type=Frameshift; Positions=4, 16, 40; Evidence={ECO 0000305}; # SIMILARITY Belongs to the TPT transporter family. SLC35E subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION S35E3_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # TCDB 2.A.7.9.15 the drug/metabolite transporter (dmt) superfamily # UCSC uc001suh human # eggNOG ENOG410XP1S LUCA # eggNOG KOG1441 Eukaryota BLAST swissprot:S35E3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S35E3_HUMAN COXPRESdb 55508 http://coxpresdb.jp/data/gene/55508.shtml CleanEx HS_SLC35E3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC35E3 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.1293003 http://dx.doi.org/10.1101/gr.1293003 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AF148713 http://www.ebi.ac.uk/ena/data/view/AF148713 EMBL AK289645 http://www.ebi.ac.uk/ena/data/view/AK289645 EMBL AY358943 http://www.ebi.ac.uk/ena/data/view/AY358943 EMBL BC008412 http://www.ebi.ac.uk/ena/data/view/BC008412 EMBL BC021103 http://www.ebi.ac.uk/ena/data/view/BC021103 EMBL BC030504 http://www.ebi.ac.uk/ena/data/view/BC030504 EMBL BC049192 http://www.ebi.ac.uk/ena/data/view/BC049192 EMBL CH471054 http://www.ebi.ac.uk/ena/data/view/CH471054 Ensembl ENST00000398004 http://www.ensembl.org/id/ENST00000398004 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005338 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005338 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GeneCards SLC35E3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC35E3 GeneID 55508 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=55508 GeneTree ENSGT00730000111164 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00730000111164 HGNC HGNC:20864 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:20864 HOGENOM HOG000242404 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000242404&db=HOGENOM6 HOVERGEN HBG059041 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG059041&db=HOVERGEN HPA HPA049403 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA049403 InParanoid Q7Z769 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q7Z769 InterPro IPR004853 http://www.ebi.ac.uk/interpro/entry/IPR004853 Jabion 55508 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=55508 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:55508 http://www.genome.jp/dbget-bin/www_bget?hsa:55508 KEGG_Orthology KO:K15285 http://www.genome.jp/dbget-bin/www_bget?KO:K15285 OMA DVKFNVL http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=DVKFNVL OrthoDB EOG091G0I3C http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0I3C PSORT swissprot:S35E3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S35E3_HUMAN PSORT-B swissprot:S35E3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S35E3_HUMAN PSORT2 swissprot:S35E3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S35E3_HUMAN Pfam PF03151 http://pfam.xfam.org/family/PF03151 PharmGKB PA128394684 http://www.pharmgkb.org/do/serve?objId=PA128394684&objCls=Gene Phobius swissprot:S35E3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S35E3_HUMAN PhylomeDB Q7Z769 http://phylomedb.org/?seqid=Q7Z769 ProteinModelPortal Q7Z769 http://www.proteinmodelportal.org/query/uniprot/Q7Z769 PubMed 12975309 http://www.ncbi.nlm.nih.gov/pubmed/12975309 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 RefSeq NP_061126 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_061126 STRING 9606.ENSP00000381089 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000381089&targetmode=cogs TCDB 2.A.7.9.15 http://www.tcdb.org/search/result.php?tc=2.A.7.9.15 UCSC uc001suh http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001suh&org=rat UniGene Hs.506011 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.506011 UniProtKB S35E3_HUMAN http://www.uniprot.org/uniprot/S35E3_HUMAN UniProtKB-AC Q7Z769 http://www.uniprot.org/uniprot/Q7Z769 charge swissprot:S35E3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S35E3_HUMAN eggNOG ENOG410XP1S http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XP1S eggNOG KOG1441 http://eggnogapi.embl.de/nog_data/html/tree/KOG1441 epestfind swissprot:S35E3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S35E3_HUMAN garnier swissprot:S35E3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S35E3_HUMAN helixturnhelix swissprot:S35E3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S35E3_HUMAN hmoment swissprot:S35E3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S35E3_HUMAN iep swissprot:S35E3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S35E3_HUMAN inforesidue swissprot:S35E3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S35E3_HUMAN neXtProt NX_Q7Z769 http://www.nextprot.org/db/entry/NX_Q7Z769 octanol swissprot:S35E3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S35E3_HUMAN pepcoil swissprot:S35E3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S35E3_HUMAN pepdigest swissprot:S35E3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S35E3_HUMAN pepinfo swissprot:S35E3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S35E3_HUMAN pepnet swissprot:S35E3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S35E3_HUMAN pepstats swissprot:S35E3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S35E3_HUMAN pepwheel swissprot:S35E3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S35E3_HUMAN pepwindow swissprot:S35E3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S35E3_HUMAN sigcleave swissprot:S35E3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S35E3_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS AQ12B_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=A6NM10-1; Sequence=Displayed; Name=2; IsoId=A6NM10-2; Sequence=VSP_032800; Note=No experimental confirmation available.; # CCDS CCDS46560 -. [A6NM10-2] # DOMAIN AQ12B_HUMAN Aquaporins contain two tandem repeats each containing three membrane-spanning domains and a pore-forming loop with the signature motif Asn-Pro-Ala (NPA). # Ensembl ENST00000407834 ENSP00000384894; ENSG00000185176. [A6NM10-2] # Ensembl ENST00000621682 ENSP00000481577; ENSG00000185176. [A6NM10-1] # ExpressionAtlas A6NM10 baseline and differential # FUNCTION AQ12B_HUMAN Aquaporins facilitate the transport of water and small neutral solutes across cell membranes. {ECO 0000250}. # GO_component GO:0005886 plasma membrane; IBA:GO_Central. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0015250 water channel activity; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # Gene3D 1.20.1080.10 -; 1. # Genevisible A6NM10 HS # HGNC HGNC:6096 AQP12B # InterPro IPR000425 MIP # InterPro IPR016697 Aquaporin_11/12 # InterPro IPR023265 Aquaporin_12 # InterPro IPR023271 Aquaporin-like # KEGG_Brite ko04040 Ion channels # Organism AQ12B_HUMAN Homo sapiens (Human) # PANTHER PTHR21191:SF8 PTHR21191:SF8 # PIRSF PIRSF017529 Aquaporin_11/12 # PRINTS PR00783 MINTRINSICP # PRINTS PR02025 AQUAPORIN12 # Pfam PF00230 MIP # Proteomes UP000005640 Chromosome 2 # RecName AQ12B_HUMAN Aquaporin-12B # RefSeq NP_001095937 NM_001102467.1. [A6NM10-2] # SIMILARITY Belongs to the MIP/aquaporin (TC 1.A.8) family. AQP11/AQP12 subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION AQ12B_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # SUPFAM SSF81338 SSF81338 # UCSC uc010fzj human. [A6NM10-1] # eggNOG ENOG410IJA3 Eukaryota # eggNOG ENOG4111GCP LUCA BLAST swissprot:AQ12B_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:AQ12B_HUMAN BioCyc ZFISH:G66-30760-MONOMER http://biocyc.org/getid?id=ZFISH:G66-30760-MONOMER COXPRESdb 653437 http://coxpresdb.jp/data/gene/653437.shtml CleanEx HS_AQP12B http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_AQP12B DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AC011298 http://www.ebi.ac.uk/ena/data/view/AC011298 EMBL BC139748 http://www.ebi.ac.uk/ena/data/view/BC139748 Ensembl ENST00000407834 http://www.ensembl.org/id/ENST00000407834 Ensembl ENST00000621682 http://www.ensembl.org/id/ENST00000621682 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0015250 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015250 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 Gene3D 1.20.1080.10 http://www.cathdb.info/version/latest/superfamily/1.20.1080.10 GeneCards AQP12B http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=AQP12B GeneID 653437 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=653437 GeneTree ENSGT00530000063816 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000063816 HGNC HGNC:6096 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6096 HOGENOM HOG000034023 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000034023&db=HOGENOM6 HOVERGEN HBG050557 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050557&db=HOVERGEN HPA HPA042216 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA042216 InParanoid A6NM10 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=A6NM10 InterPro IPR000425 http://www.ebi.ac.uk/interpro/entry/IPR000425 InterPro IPR016697 http://www.ebi.ac.uk/interpro/entry/IPR016697 InterPro IPR023265 http://www.ebi.ac.uk/interpro/entry/IPR023265 InterPro IPR023271 http://www.ebi.ac.uk/interpro/entry/IPR023271 Jabion 653437 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=653437 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:653437 http://www.genome.jp/dbget-bin/www_bget?hsa:653437 KEGG_Orthology KO:K09871 http://www.genome.jp/dbget-bin/www_bget?KO:K09871 OMA DMHMIKN http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=DMHMIKN OrthoDB EOG091G0JBQ http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0JBQ PANTHER PTHR21191:SF8 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR21191:SF8 PRINTS PR00783 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00783 PRINTS PR02025 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR02025 PSORT swissprot:AQ12B_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:AQ12B_HUMAN PSORT-B swissprot:AQ12B_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:AQ12B_HUMAN PSORT2 swissprot:AQ12B_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:AQ12B_HUMAN Pfam PF00230 http://pfam.xfam.org/family/PF00230 PharmGKB PA29902 http://www.pharmgkb.org/do/serve?objId=PA29902&objCls=Gene Phobius swissprot:AQ12B_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:AQ12B_HUMAN PhylomeDB A6NM10 http://phylomedb.org/?seqid=A6NM10 ProteinModelPortal A6NM10 http://www.proteinmodelportal.org/query/uniprot/A6NM10 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 RefSeq NP_001095937 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001095937 STRING 9606.ENSP00000337144 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000337144&targetmode=cogs SUPFAM SSF81338 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81338 UCSC uc010fzj http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc010fzj&org=rat UniGene Hs.437167 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.437167 UniProtKB AQ12B_HUMAN http://www.uniprot.org/uniprot/AQ12B_HUMAN UniProtKB-AC A6NM10 http://www.uniprot.org/uniprot/A6NM10 charge swissprot:AQ12B_HUMAN http://rest.g-language.org/emboss/charge/swissprot:AQ12B_HUMAN eggNOG ENOG410IJA3 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IJA3 eggNOG ENOG4111GCP http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111GCP epestfind swissprot:AQ12B_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:AQ12B_HUMAN garnier swissprot:AQ12B_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:AQ12B_HUMAN helixturnhelix swissprot:AQ12B_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:AQ12B_HUMAN hmoment swissprot:AQ12B_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:AQ12B_HUMAN iep swissprot:AQ12B_HUMAN http://rest.g-language.org/emboss/iep/swissprot:AQ12B_HUMAN inforesidue swissprot:AQ12B_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:AQ12B_HUMAN neXtProt NX_A6NM10 http://www.nextprot.org/db/entry/NX_A6NM10 octanol swissprot:AQ12B_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:AQ12B_HUMAN pepcoil swissprot:AQ12B_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:AQ12B_HUMAN pepdigest swissprot:AQ12B_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:AQ12B_HUMAN pepinfo swissprot:AQ12B_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:AQ12B_HUMAN pepnet swissprot:AQ12B_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:AQ12B_HUMAN pepstats swissprot:AQ12B_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:AQ12B_HUMAN pepwheel swissprot:AQ12B_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:AQ12B_HUMAN pepwindow swissprot:AQ12B_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:AQ12B_HUMAN sigcleave swissprot:AQ12B_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:AQ12B_HUMAN ## Database ID URL or Descriptions # BioGrid 112232 86 # ChiTaRS SCN2B human # DISEASE SCN2B_HUMAN Atrial fibrillation, familial, 14 (ATFB14) [MIM 615378] A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. {ECO 0000269|PubMed 19808477}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE SCN2B_HUMAN Note=Genetic variations in SCN2B may be involved in Brugada syndrome (PubMed 23559163). This tachyarrhythmia is characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset. {ECO 0000269|PubMed 23559163}. # DrugBank DB00313 Valproic Acid # DrugBank DB00909 Zonisamide # Ensembl ENST00000278947 ENSP00000278947; ENSG00000149575 # ExpressionAtlas O60939 baseline and differential # FUNCTION SCN2B_HUMAN Crucial in the assembly, expression, and functional modulation of the heterotrimeric complex of the sodium channel. The subunit beta-2 causes an increase in the plasma membrane surface area and in its folding into microvilli. Interacts with TNR may play a crucial role in clustering and regulation of activity of sodium channels at nodes of Ranvier (By similarity). {ECO 0000250}. # GO_component GO:0001518 voltage-gated sodium channel complex; TAS:UniProtKB. # GO_function GO:0017080 sodium channel regulator activity; IDA:BHF-UCL. # GO_function GO:0086006 voltage-gated sodium channel activity involved in cardiac muscle cell action potential; IMP:BHF-UCL. # GO_process GO:0007268 chemical synaptic transmission; TAS:ProtInc. # GO_process GO:0007399 nervous system development; IEA:Ensembl. # GO_process GO:0035725 sodium ion transmembrane transport; IDA:BHF-UCL. # GO_process GO:0046684 response to pyrethroid; IEA:Ensembl. # GO_process GO:0060048 cardiac muscle contraction; IMP:BHF-UCL. # GO_process GO:0060371 regulation of atrial cardiac muscle cell membrane depolarization; IMP:BHF-UCL. # GO_process GO:0086002 cardiac muscle cell action potential involved in contraction; IMP:BHF-UCL. # GO_process GO:0086012 membrane depolarization during cardiac muscle cell action potential; IMP:BHF-UCL. # GO_process GO:0086091 regulation of heart rate by cardiac conduction; IMP:BHF-UCL. # GO_process GO:2000649 regulation of sodium ion transmembrane transporter activity; IDA:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0055085 transmembrane transport # Gene3D 2.60.40.10 -; 1. # Genevisible O60939 HS # HGNC HGNC:10589 SCN2B # InterPro IPR000920 Myelin_P0-rel # InterPro IPR003599 Ig_sub # InterPro IPR007110 Ig-like_dom # InterPro IPR013106 Ig_V-set # InterPro IPR013783 Ig-like_fold # InterPro IPR029873 SCN2B # KEGG_Brite ko04040 Ion channels # MIM 601327 gene # MIM 615378 phenotype # Organism SCN2B_HUMAN Homo sapiens (Human) # Orphanet 334 Familial atrial fibrillation # PANTHER PTHR13869 PTHR13869 # PANTHER PTHR13869:SF3 PTHR13869:SF3 # PDB 5FDY X-ray; 1.85 A; A/B=30-153 # PDB 5FEB X-ray; 1.35 A; A=30-151 # PRINTS PR00213 MYELINP0 # PROSITE PS50835 IG_LIKE # Pfam PF07686 V-set # Proteomes UP000005640 Chromosome 11 # Reactome R-HSA-445095 Interaction between L1 and Ankyrins # Reactome R-HSA-5576892 Phase 0 - rapid depolarisation # RecName SCN2B_HUMAN Sodium channel subunit beta-2 # RefSeq NP_004579 NM_004588.4 # SIMILARITY Belongs to the sodium channel auxiliary subunit SCN2B (TC 8.A.17) family. {ECO 0000305}. # SIMILARITY Contains 1 Ig-like C2-type (immunoglobulin-like) domain. {ECO 0000305}. # SMART SM00409 IG # SUBCELLULAR LOCATION SCN2B_HUMAN Membrane; Single-pass type I membrane protein. # SUBUNIT The voltage-sensitive sodium channel consists of an ion conducting pore forming alpha-subunit regulated by one or more beta-1, beta-2, beta-3 and/or beta-4 subunits. Beta-1 and beta-3 are non-covalently associated with alpha, while beta-2 and beta-4 are covalently linked by disulfide bonds (By similarity). {ECO 0000250}. # SUPFAM SSF48726 SSF48726 # TCDB 8.A.17.2 the na(+) channel auxiliary subunit 1-4 (sca-) family # TISSUE SPECIFICITY SCN2B_HUMAN Brain specific. # eggNOG ENOG410II8M Eukaryota # eggNOG ENOG4111M25 LUCA BLAST swissprot:SCN2B_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SCN2B_HUMAN COXPRESdb 6327 http://coxpresdb.jp/data/gene/6327.shtml CleanEx HS_SCN2B http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SCN2B DOI 10.1002/humu.22328 http://dx.doi.org/10.1002/humu.22328 DOI 10.1038/sj.ejhg.5200220 http://dx.doi.org/10.1038/sj.ejhg.5200220 DOI 10.1074/jbc.M112.397646 http://dx.doi.org/10.1074/jbc.M112.397646 DOI 10.1097/00001756-199708180-00025 http://dx.doi.org/10.1097/00001756-199708180-00025 DOI 10.1101/gr.1293003 http://dx.doi.org/10.1101/gr.1293003 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1161/CIRCEP.108.779181 http://dx.doi.org/10.1161/CIRCEP.108.779181 DrugBank DB00313 http://www.drugbank.ca/drugs/DB00313 DrugBank DB00909 http://www.drugbank.ca/drugs/DB00909 EMBL AF007783 http://www.ebi.ac.uk/ena/data/view/AF007783 EMBL AF049496 http://www.ebi.ac.uk/ena/data/view/AF049496 EMBL AF049497 http://www.ebi.ac.uk/ena/data/view/AF049497 EMBL AF049498 http://www.ebi.ac.uk/ena/data/view/AF049498 EMBL AF107028 http://www.ebi.ac.uk/ena/data/view/AF107028 EMBL AY358945 http://www.ebi.ac.uk/ena/data/view/AY358945 EMBL BC036793 http://www.ebi.ac.uk/ena/data/view/BC036793 EMBL U87555 http://www.ebi.ac.uk/ena/data/view/U87555 Ensembl ENST00000278947 http://www.ensembl.org/id/ENST00000278947 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0001518 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001518 GO_function GO:0017080 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0017080 GO_function GO:0086006 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086006 GO_process GO:0007268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007268 GO_process GO:0007399 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007399 GO_process GO:0035725 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035725 GO_process GO:0046684 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046684 GO_process GO:0060048 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060048 GO_process GO:0060371 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060371 GO_process GO:0086002 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086002 GO_process GO:0086012 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086012 GO_process GO:0086091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086091 GO_process GO:2000649 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000649 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 2.60.40.10 http://www.cathdb.info/version/latest/superfamily/2.60.40.10 GeneCards SCN2B http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SCN2B GeneID 6327 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6327 GeneTree ENSGT00640000091161 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00640000091161 HGNC HGNC:10589 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10589 HOGENOM HOG000118120 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000118120&db=HOGENOM6 HOVERGEN HBG003443 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG003443&db=HOVERGEN InParanoid O60939 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O60939 InterPro IPR000920 http://www.ebi.ac.uk/interpro/entry/IPR000920 InterPro IPR003599 http://www.ebi.ac.uk/interpro/entry/IPR003599 InterPro IPR007110 http://www.ebi.ac.uk/interpro/entry/IPR007110 InterPro IPR013106 http://www.ebi.ac.uk/interpro/entry/IPR013106 InterPro IPR013783 http://www.ebi.ac.uk/interpro/entry/IPR013783 InterPro IPR029873 http://www.ebi.ac.uk/interpro/entry/IPR029873 Jabion 6327 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6327 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:6327 http://www.genome.jp/dbget-bin/www_bget?hsa:6327 KEGG_Orthology KO:K04846 http://www.genome.jp/dbget-bin/www_bget?KO:K04846 MIM 601327 http://www.ncbi.nlm.nih.gov/omim/601327 MIM 615378 http://www.ncbi.nlm.nih.gov/omim/615378 OMA HGKIYLQ http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=HGKIYLQ Orphanet 334 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=334 OrthoDB EOG091G0O9E http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0O9E PANTHER PTHR13869 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR13869 PANTHER PTHR13869:SF3 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR13869:SF3 PDB 5FDY http://www.ebi.ac.uk/pdbe-srv/view/entry/5FDY PDB 5FEB http://www.ebi.ac.uk/pdbe-srv/view/entry/5FEB PDBsum 5FDY http://www.ebi.ac.uk/pdbsum/5FDY PDBsum 5FEB http://www.ebi.ac.uk/pdbsum/5FEB PRINTS PR00213 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00213 PROSITE PS50835 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50835 PSORT swissprot:SCN2B_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SCN2B_HUMAN PSORT-B swissprot:SCN2B_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SCN2B_HUMAN PSORT2 swissprot:SCN2B_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SCN2B_HUMAN Pfam PF07686 http://pfam.xfam.org/family/PF07686 PharmGKB PA303 http://www.pharmgkb.org/do/serve?objId=PA303&objCls=Gene Phobius swissprot:SCN2B_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SCN2B_HUMAN PhylomeDB O60939 http://phylomedb.org/?seqid=O60939 ProteinModelPortal O60939 http://www.proteinmodelportal.org/query/uniprot/O60939 PubMed 12975309 http://www.ncbi.nlm.nih.gov/pubmed/12975309 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 19808477 http://www.ncbi.nlm.nih.gov/pubmed/19808477 PubMed 22992729 http://www.ncbi.nlm.nih.gov/pubmed/22992729 PubMed 23559163 http://www.ncbi.nlm.nih.gov/pubmed/23559163 PubMed 9295116 http://www.ncbi.nlm.nih.gov/pubmed/9295116 PubMed 9887383 http://www.ncbi.nlm.nih.gov/pubmed/9887383 Reactome R-HSA-445095 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-445095 Reactome R-HSA-5576892 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576892 RefSeq NP_004579 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004579 SMART SM00409 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00409 SMR O60939 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=O60939 STRING 9606.ENSP00000278947 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000278947&targetmode=cogs SUPFAM SSF48726 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48726 TCDB 8.A.17.2 http://www.tcdb.org/search/result.php?tc=8.A.17.2 UniGene Hs.129783 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.129783 UniProtKB SCN2B_HUMAN http://www.uniprot.org/uniprot/SCN2B_HUMAN UniProtKB-AC O60939 http://www.uniprot.org/uniprot/O60939 charge swissprot:SCN2B_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SCN2B_HUMAN eggNOG ENOG410II8M http://eggnogapi.embl.de/nog_data/html/tree/ENOG410II8M eggNOG ENOG4111M25 http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111M25 epestfind swissprot:SCN2B_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SCN2B_HUMAN garnier swissprot:SCN2B_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SCN2B_HUMAN helixturnhelix swissprot:SCN2B_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SCN2B_HUMAN hmoment swissprot:SCN2B_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SCN2B_HUMAN iep swissprot:SCN2B_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SCN2B_HUMAN inforesidue swissprot:SCN2B_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SCN2B_HUMAN neXtProt NX_O60939 http://www.nextprot.org/db/entry/NX_O60939 octanol swissprot:SCN2B_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SCN2B_HUMAN pepcoil swissprot:SCN2B_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SCN2B_HUMAN pepdigest swissprot:SCN2B_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SCN2B_HUMAN pepinfo swissprot:SCN2B_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SCN2B_HUMAN pepnet swissprot:SCN2B_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SCN2B_HUMAN pepstats swissprot:SCN2B_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SCN2B_HUMAN pepwheel swissprot:SCN2B_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SCN2B_HUMAN pepwindow swissprot:SCN2B_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SCN2B_HUMAN sigcleave swissprot:SCN2B_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SCN2B_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS GRIA3_HUMAN Event=Alternative splicing; Named isoforms=2; Name=Flop; IsoId=P42263-1; Sequence=Displayed; Name=Flip; IsoId=P42263-2; Sequence=VSP_053351; # AltName GRIA3_HUMAN AMPA-selective glutamate receptor 3 # AltName GRIA3_HUMAN GluR-C # AltName GRIA3_HUMAN GluR-K3 # AltName GRIA3_HUMAN Glutamate receptor ionotropic, AMPA 3 # BioGrid 109149 20 # CAUTION It is uncertain whether Met-1 or Met-7 is the initiator. {ECO 0000305}. # CCDS CCDS14604 -. [P42263-1] # CCDS CCDS14605 -. [P42263-2] # ChiTaRS GRIA3 human # DISEASE GRIA3_HUMAN Mental retardation, X-linked 94 (MRX94) [MIM 300699] A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non- syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. MRX94 patients have moderate mental retardation. Other variable features are macrocephaly, seizures, myoclonic jerks, autistic behavior, asthenic body habitus, distal muscle weakness and hyporeflexia. {ECO 0000269|PubMed 17989220}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DOMAIN GRIA3_HUMAN The M4 transmembrane segment mediates tetramerization and is required for cell surface expression. {ECO 0000250}. # DrugBank DB00898 Ethanol # DrugBank DB01356 Lithium # Ensembl ENST00000541091 ENSP00000446440; ENSG00000125675. [P42263-1] # Ensembl ENST00000620443 ENSP00000478489; ENSG00000125675. [P42263-2] # Ensembl ENST00000622768 ENSP00000481554; ENSG00000125675. [P42263-1] # ExpressionAtlas P42263 baseline and differential # FUNCTION GRIA3_HUMAN Receptor for glutamate that functions as ligand-gated ion channel in the central nervous system and plays an important role in excitatory synaptic transmission. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. Binding of the excitatory neurotransmitter L- glutamate induces a conformation change, leading to the opening of the cation channel, and thereby converts the chemical signal to an electrical impulse. The receptor then desensitizes rapidly and enters a transient inactive state, characterized by the presence of bound agonist. In the presence of CACNG4 or CACNG7 or CACNG8, shows resensitization which is characterized by a delayed accumulation of current flux upon continued application of glutamate. {ECO 0000269|PubMed 21172611}. # GO_component GO:0005654 nucleoplasm; IDA:HPA. # GO_component GO:0005886 plasma membrane; IDA:HPA. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0030666 endocytic vesicle membrane; TAS:Reactome. # GO_component GO:0032281 AMPA glutamate receptor complex; ISS:UniProtKB. # GO_component GO:0045211 postsynaptic membrane; IEA:UniProtKB-SubCell. # GO_function GO:0004971 AMPA glutamate receptor activity; IDA:UniProtKB. # GO_function GO:0005231 excitatory extracellular ligand-gated ion channel activity; TAS:Reactome. # GO_function GO:0005234 extracellular-glutamate-gated ion channel activity; IEA:InterPro. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0007215 glutamate receptor signaling pathway; TAS:ProtInc. # GO_process GO:0007268 chemical synaptic transmission; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005654 nucleoplasm # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0007267 cell-cell signaling # Genevisible P42263 HS # HGNC HGNC:4573 GRIA3 # InterPro IPR001320 Iontro_rcpt # InterPro IPR001508 Iono_rcpt_met # InterPro IPR001828 ANF_lig-bd_rcpt # InterPro IPR019594 Glu/Gly-bd # InterPro IPR028082 Peripla_BP_I # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00577 [Congenital disorder; Mental retardation; Epilepsy] Rolandic epilepsy # KEGG_Pathway ko04080 Neuroactive ligand-receptor interaction # KEGG_Pathway ko04713 Circadian entrainment # KEGG_Pathway ko04723 Retrograde endocannabinoid signaling # KEGG_Pathway ko04724 Glutamatergic synapse # KEGG_Pathway ko04728 Dopaminergic synapse # KEGG_Pathway ko04730 Long-term depression # KEGG_Pathway ko05031 Amphetamine addiction # KEGG_Pathway ko05033 Nicotine addiction # KEGG_Pathway ko05202 Transcriptional misregulation in cancer # MIM 300699 phenotype # MIM 305915 gene # MISCELLANEOUS GRIA3_HUMAN The postsynaptic actions of Glu are mediated by a variety of receptors that are named according to their selective agonists. This receptor binds AMPA (quisqualate) > glutamate > kainate. # Organism GRIA3_HUMAN Homo sapiens (Human) # Orphanet 364028 X-linked intellectual disability due to GRIA3 anomalies # PIR S49460 S49460 # PIR S50128 S50128 # PIR S53696 S53696 # PRINTS PR00177 NMDARECEPTOR # PTM GRIA3_HUMAN Palmitoylated. Depalmitoylated upon glutamate stimulation. Cys-621 palmitoylation leads to Golgi retention and decreased cell surface expression. In contrast, Cys-847 palmitoylation does not affect cell surface expression but regulates stimulation-dependent endocytosis (By similarity). {ECO 0000250}. # Pfam PF00060 Lig_chan # Pfam PF01094 ANF_receptor # Pfam PF10613 Lig_chan-Glu_bd # Proteomes UP000005640 Chromosome X # Reactome R-HSA-399710 Activation of AMPA receptors # Reactome R-HSA-399719 Trafficking of AMPA receptors # Reactome R-HSA-416993 Trafficking of GluR2-containing AMPA receptors # Reactome R-HSA-438066 Unblocking of NMDA receptor, glutamate binding and activation # Reactome R-HSA-8849932 SALM protein interactions at the synapses # RecName GRIA3_HUMAN Glutamate receptor 3 # RefSeq NP_000819 NM_000828.4 # RefSeq NP_015564 NM_007325.4 # SIMILARITY Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. GRIA3 subfamily. {ECO 0000305}. # SMART SM00079 PBPe # SMART SM00918 Lig_chan-Glu_bd # SUBCELLULAR LOCATION GRIA3_HUMAN Cell membrane; Multi-pass membrane protein. Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Note=Interaction with CNIH2 and CNIH3 promotes cell surface expression. {ECO 0000250}. # SUBUNIT Homotetramer or heterotetramer of pore-forming glutamate receptor subunits. Tetramers may be formed by the dimerization of dimers. Interacts with PRKCABP, GRIP1 and GRIP2 (By similarity). Found in a complex with GRIA1, GRIA2, GRIA4, CNIH2, CNIH3, CACNG2, CACNG3, CACNG4, CACNG5, CACNG7 and CACNG8. Interacts with CACNG5 (By similarity). {ECO 0000250}. # SUPFAM SSF53822 SSF53822 # TCDB 1.A.10.1 the glutamate-gated ion channel (gic) family of neurotransmitter receptors # UCSC uc033etl human. [P42263-1] # eggNOG ENOG410XPSH LUCA # eggNOG KOG1054 Eukaryota BLAST swissprot:GRIA3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:GRIA3_HUMAN BioCyc ZFISH:ENSG00000125675-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000125675-MONOMER COXPRESdb 2892 http://coxpresdb.jp/data/gene/2892.shtml CleanEx HS_GRIA3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_GRIA3 DIP DIP-46195N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-46195N DOI 10.1002/(SICI)1096-8628(20000103)90:1<69::AID-AJMG12>3.3.CO http://dx.doi.org/10.1002/(SICI)1096-8628(20000103)90:1<69::AID-AJMG12>3.3.CO DOI 10.1006/geno.1999.6032 http://dx.doi.org/10.1006/geno.1999.6032 DOI 10.1016/0167-4781(94)90090-6 http://dx.doi.org/10.1016/0167-4781(94)90090-6 DOI 10.1016/j.neuron.2010.11.026 http://dx.doi.org/10.1016/j.neuron.2010.11.026 DOI 10.1038/nature03440 http://dx.doi.org/10.1038/nature03440 DOI 10.1073/pnas.0708699104 http://dx.doi.org/10.1073/pnas.0708699104 DrugBank DB00898 http://www.drugbank.ca/drugs/DB00898 DrugBank DB01356 http://www.drugbank.ca/drugs/DB01356 EMBL AF159262 http://www.ebi.ac.uk/ena/data/view/AF159262 EMBL AF159263 http://www.ebi.ac.uk/ena/data/view/AF159263 EMBL AF159264 http://www.ebi.ac.uk/ena/data/view/AF159264 EMBL AF159265 http://www.ebi.ac.uk/ena/data/view/AF159265 EMBL AF159266 http://www.ebi.ac.uk/ena/data/view/AF159266 EMBL AF159267 http://www.ebi.ac.uk/ena/data/view/AF159267 EMBL AF159268 http://www.ebi.ac.uk/ena/data/view/AF159268 EMBL AF159269 http://www.ebi.ac.uk/ena/data/view/AF159269 EMBL AF159270 http://www.ebi.ac.uk/ena/data/view/AF159270 EMBL AF159271 http://www.ebi.ac.uk/ena/data/view/AF159271 EMBL AF159272 http://www.ebi.ac.uk/ena/data/view/AF159272 EMBL AF159273 http://www.ebi.ac.uk/ena/data/view/AF159273 EMBL AF159274 http://www.ebi.ac.uk/ena/data/view/AF159274 EMBL AF159275 http://www.ebi.ac.uk/ena/data/view/AF159275 EMBL AF159277 http://www.ebi.ac.uk/ena/data/view/AF159277 EMBL AF166362 http://www.ebi.ac.uk/ena/data/view/AF166362 EMBL AF166363 http://www.ebi.ac.uk/ena/data/view/AF166363 EMBL AF166364 http://www.ebi.ac.uk/ena/data/view/AF166364 EMBL AF166365 http://www.ebi.ac.uk/ena/data/view/AF166365 EMBL AF166366 http://www.ebi.ac.uk/ena/data/view/AF166366 EMBL AF166366 http://www.ebi.ac.uk/ena/data/view/AF166366 EMBL AF166367 http://www.ebi.ac.uk/ena/data/view/AF166367 EMBL AF166367 http://www.ebi.ac.uk/ena/data/view/AF166367 EMBL AF166368 http://www.ebi.ac.uk/ena/data/view/AF166368 EMBL AF166368 http://www.ebi.ac.uk/ena/data/view/AF166368 EMBL AF166369 http://www.ebi.ac.uk/ena/data/view/AF166369 EMBL AF166369 http://www.ebi.ac.uk/ena/data/view/AF166369 EMBL AF166370 http://www.ebi.ac.uk/ena/data/view/AF166370 EMBL AF166370 http://www.ebi.ac.uk/ena/data/view/AF166370 EMBL AF166371 http://www.ebi.ac.uk/ena/data/view/AF166371 EMBL AF166371 http://www.ebi.ac.uk/ena/data/view/AF166371 EMBL AF166372 http://www.ebi.ac.uk/ena/data/view/AF166372 EMBL AF166372 http://www.ebi.ac.uk/ena/data/view/AF166372 EMBL AF166373 http://www.ebi.ac.uk/ena/data/view/AF166373 EMBL AF166373 http://www.ebi.ac.uk/ena/data/view/AF166373 EMBL AF166374 http://www.ebi.ac.uk/ena/data/view/AF166374 EMBL AF166375 http://www.ebi.ac.uk/ena/data/view/AF166375 EMBL AF167332 http://www.ebi.ac.uk/ena/data/view/AF167332 EMBL AF167332 http://www.ebi.ac.uk/ena/data/view/AF167332 EMBL AL035426 http://www.ebi.ac.uk/ena/data/view/AL035426 EMBL AL035426 http://www.ebi.ac.uk/ena/data/view/AL035426 EMBL AL035426 http://www.ebi.ac.uk/ena/data/view/AL035426 EMBL AL035426 http://www.ebi.ac.uk/ena/data/view/AL035426 EMBL AL035426 http://www.ebi.ac.uk/ena/data/view/AL035426 EMBL AL035426 http://www.ebi.ac.uk/ena/data/view/AL035426 EMBL AL035426 http://www.ebi.ac.uk/ena/data/view/AL035426 EMBL AL035426 http://www.ebi.ac.uk/ena/data/view/AL035426 EMBL AL035426 http://www.ebi.ac.uk/ena/data/view/AL035426 EMBL AL035426 http://www.ebi.ac.uk/ena/data/view/AL035426 EMBL AL356213 http://www.ebi.ac.uk/ena/data/view/AL356213 EMBL AL356213 http://www.ebi.ac.uk/ena/data/view/AL356213 EMBL AL356213 http://www.ebi.ac.uk/ena/data/view/AL356213 EMBL AL356213 http://www.ebi.ac.uk/ena/data/view/AL356213 EMBL AL356213 http://www.ebi.ac.uk/ena/data/view/AL356213 EMBL AL356213 http://www.ebi.ac.uk/ena/data/view/AL356213 EMBL AL356213 http://www.ebi.ac.uk/ena/data/view/AL356213 EMBL AL356213 http://www.ebi.ac.uk/ena/data/view/AL356213 EMBL AL356213 http://www.ebi.ac.uk/ena/data/view/AL356213 EMBL AL356213 http://www.ebi.ac.uk/ena/data/view/AL356213 EMBL AL590139 http://www.ebi.ac.uk/ena/data/view/AL590139 EMBL AL590139 http://www.ebi.ac.uk/ena/data/view/AL590139 EMBL AL590139 http://www.ebi.ac.uk/ena/data/view/AL590139 EMBL AL590139 http://www.ebi.ac.uk/ena/data/view/AL590139 EMBL AL590139 http://www.ebi.ac.uk/ena/data/view/AL590139 EMBL AL590139 http://www.ebi.ac.uk/ena/data/view/AL590139 EMBL AL590139 http://www.ebi.ac.uk/ena/data/view/AL590139 EMBL AL590139 http://www.ebi.ac.uk/ena/data/view/AL590139 EMBL AL590139 http://www.ebi.ac.uk/ena/data/view/AL590139 EMBL AL590139 http://www.ebi.ac.uk/ena/data/view/AL590139 EMBL CH471107 http://www.ebi.ac.uk/ena/data/view/CH471107 EMBL CH471107 http://www.ebi.ac.uk/ena/data/view/CH471107 EMBL U10301 http://www.ebi.ac.uk/ena/data/view/U10301 EMBL U10302 http://www.ebi.ac.uk/ena/data/view/U10302 EMBL X82068 http://www.ebi.ac.uk/ena/data/view/X82068 EMBL Z82899 http://www.ebi.ac.uk/ena/data/view/Z82899 EMBL Z82899 http://www.ebi.ac.uk/ena/data/view/Z82899 EMBL Z82899 http://www.ebi.ac.uk/ena/data/view/Z82899 EMBL Z82899 http://www.ebi.ac.uk/ena/data/view/Z82899 EMBL Z82899 http://www.ebi.ac.uk/ena/data/view/Z82899 EMBL Z82899 http://www.ebi.ac.uk/ena/data/view/Z82899 EMBL Z82899 http://www.ebi.ac.uk/ena/data/view/Z82899 EMBL Z82899 http://www.ebi.ac.uk/ena/data/view/Z82899 EMBL Z82899 http://www.ebi.ac.uk/ena/data/view/Z82899 EMBL Z82899 http://www.ebi.ac.uk/ena/data/view/Z82899 EMBL Z83848 http://www.ebi.ac.uk/ena/data/view/Z83848 EMBL Z83848 http://www.ebi.ac.uk/ena/data/view/Z83848 EMBL Z83848 http://www.ebi.ac.uk/ena/data/view/Z83848 EMBL Z83848 http://www.ebi.ac.uk/ena/data/view/Z83848 EMBL Z83848 http://www.ebi.ac.uk/ena/data/view/Z83848 EMBL Z83848 http://www.ebi.ac.uk/ena/data/view/Z83848 EMBL Z83848 http://www.ebi.ac.uk/ena/data/view/Z83848 EMBL Z83848 http://www.ebi.ac.uk/ena/data/view/Z83848 EMBL Z83848 http://www.ebi.ac.uk/ena/data/view/Z83848 EMBL Z83848 http://www.ebi.ac.uk/ena/data/view/Z83848 Ensembl ENST00000541091 http://www.ensembl.org/id/ENST00000541091 Ensembl ENST00000620443 http://www.ensembl.org/id/ENST00000620443 Ensembl ENST00000622768 http://www.ensembl.org/id/ENST00000622768 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0030666 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030666 GO_component GO:0032281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032281 GO_component GO:0045211 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045211 GO_function GO:0004971 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004971 GO_function GO:0005231 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005231 GO_function GO:0005234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005234 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0007215 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007215 GO_process GO:0007268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007268 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GeneCards GRIA3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=GRIA3 GeneID 2892 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=2892 GeneTree ENSGT00760000118920 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118920 HGNC HGNC:4573 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:4573 HOVERGEN HBG051839 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG051839&db=HOVERGEN HPA HPA058659 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA058659 InParanoid P42263 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P42263 InterPro IPR001320 http://www.ebi.ac.uk/interpro/entry/IPR001320 InterPro IPR001508 http://www.ebi.ac.uk/interpro/entry/IPR001508 InterPro IPR001828 http://www.ebi.ac.uk/interpro/entry/IPR001828 InterPro IPR019594 http://www.ebi.ac.uk/interpro/entry/IPR019594 InterPro IPR028082 http://www.ebi.ac.uk/interpro/entry/IPR028082 Jabion 2892 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=2892 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00577 http://www.genome.jp/dbget-bin/www_bget?H00577 KEGG_Gene hsa:2892 http://www.genome.jp/dbget-bin/www_bget?hsa:2892 KEGG_Orthology KO:K05199 http://www.genome.jp/dbget-bin/www_bget?KO:K05199 KEGG_Pathway ko04080 http://www.genome.jp/kegg-bin/show_pathway?ko04080 KEGG_Pathway ko04713 http://www.genome.jp/kegg-bin/show_pathway?ko04713 KEGG_Pathway ko04723 http://www.genome.jp/kegg-bin/show_pathway?ko04723 KEGG_Pathway ko04724 http://www.genome.jp/kegg-bin/show_pathway?ko04724 KEGG_Pathway ko04728 http://www.genome.jp/kegg-bin/show_pathway?ko04728 KEGG_Pathway ko04730 http://www.genome.jp/kegg-bin/show_pathway?ko04730 KEGG_Pathway ko05031 http://www.genome.jp/kegg-bin/show_pathway?ko05031 KEGG_Pathway ko05033 http://www.genome.jp/kegg-bin/show_pathway?ko05033 KEGG_Pathway ko05202 http://www.genome.jp/kegg-bin/show_pathway?ko05202 MIM 300699 http://www.ncbi.nlm.nih.gov/omim/300699 MIM 305915 http://www.ncbi.nlm.nih.gov/omim/305915 OMA DQLPSND http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=DQLPSND Orphanet 364028 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=364028 OrthoDB EOG091G11CB http://cegg.unige.ch/orthodb/results?searchtext=EOG091G11CB PRINTS PR00177 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00177 PSORT swissprot:GRIA3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:GRIA3_HUMAN PSORT-B swissprot:GRIA3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:GRIA3_HUMAN PSORT2 swissprot:GRIA3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:GRIA3_HUMAN Pfam PF00060 http://pfam.xfam.org/family/PF00060 Pfam PF01094 http://pfam.xfam.org/family/PF01094 Pfam PF10613 http://pfam.xfam.org/family/PF10613 PharmGKB PA28968 http://www.pharmgkb.org/do/serve?objId=PA28968&objCls=Gene Phobius swissprot:GRIA3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:GRIA3_HUMAN PhylomeDB P42263 http://phylomedb.org/?seqid=P42263 ProteinModelPortal P42263 http://www.proteinmodelportal.org/query/uniprot/P42263 PubMed 10602120 http://www.ncbi.nlm.nih.gov/pubmed/10602120 PubMed 10644433 http://www.ncbi.nlm.nih.gov/pubmed/10644433 PubMed 15772651 http://www.ncbi.nlm.nih.gov/pubmed/15772651 PubMed 17989220 http://www.ncbi.nlm.nih.gov/pubmed/17989220 PubMed 21172611 http://www.ncbi.nlm.nih.gov/pubmed/21172611 PubMed 7918660 http://www.ncbi.nlm.nih.gov/pubmed/7918660 Reactome R-HSA-399710 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-399710 Reactome R-HSA-399719 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-399719 Reactome R-HSA-416993 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-416993 Reactome R-HSA-438066 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-438066 Reactome R-HSA-8849932 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-8849932 RefSeq NP_000819 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000819 RefSeq NP_015564 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_015564 SMART SM00079 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00079 SMART SM00918 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00918 SMR P42263 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P42263 STRING 9606.ENSP00000264357 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000264357&targetmode=cogs SUPFAM SSF53822 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF53822 TCDB 1.A.10.1 http://www.tcdb.org/search/result.php?tc=1.A.10.1 UCSC uc033etl http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc033etl&org=rat UniGene Hs.377070 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.377070 UniProtKB GRIA3_HUMAN http://www.uniprot.org/uniprot/GRIA3_HUMAN UniProtKB-AC P42263 http://www.uniprot.org/uniprot/P42263 charge swissprot:GRIA3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:GRIA3_HUMAN eggNOG ENOG410XPSH http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XPSH eggNOG KOG1054 http://eggnogapi.embl.de/nog_data/html/tree/KOG1054 epestfind swissprot:GRIA3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:GRIA3_HUMAN garnier swissprot:GRIA3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:GRIA3_HUMAN helixturnhelix swissprot:GRIA3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:GRIA3_HUMAN hmoment swissprot:GRIA3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:GRIA3_HUMAN iep swissprot:GRIA3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:GRIA3_HUMAN inforesidue swissprot:GRIA3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:GRIA3_HUMAN neXtProt NX_P42263 http://www.nextprot.org/db/entry/NX_P42263 octanol swissprot:GRIA3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:GRIA3_HUMAN pepcoil swissprot:GRIA3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:GRIA3_HUMAN pepdigest swissprot:GRIA3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:GRIA3_HUMAN pepinfo swissprot:GRIA3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:GRIA3_HUMAN pepnet swissprot:GRIA3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:GRIA3_HUMAN pepstats swissprot:GRIA3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:GRIA3_HUMAN pepwheel swissprot:GRIA3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:GRIA3_HUMAN pepwindow swissprot:GRIA3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:GRIA3_HUMAN sigcleave swissprot:GRIA3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:GRIA3_HUMAN ## Database ID URL or Descriptions # AltName KCNJ5_HUMAN Cardiac inward rectifier # AltName KCNJ5_HUMAN Heart KATP channel # AltName KCNJ5_HUMAN Inward rectifier K(+) channel Kir3.4 # AltName KCNJ5_HUMAN KATP-1 # AltName KCNJ5_HUMAN Potassium channel, inwardly rectifying subfamily J member 5 # BioGrid 109964 16 # DISEASE KCNJ5_HUMAN Hyperaldosteronism, familial, 3 (HALD3) [MIM 613677] A form of hyperaldosteronism characterized by hypertension secondary to massive adrenal mineralocorticoid production. HALD3 patients present with childhood hypertension, elevated aldosteronism levels, and high levels of the hybrid steroids 18-oxocortisol and 18-hydroxycortisol. Hypertension and aldosteronism are not reversed by administration of exogenous glucocorticoids and patients require adrenalectomy to control hypertension. {ECO 0000269|PubMed 21311022, ECO 0000269|PubMed 22203740, ECO 0000269|PubMed 22275527, ECO 0000269|PubMed 22308486, ECO 0000269|PubMed 22848660}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE KCNJ5_HUMAN Long QT syndrome 13 (LQT13) [MIM 613485] A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. {ECO 0000269|PubMed 20560207}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE KCNJ5_HUMAN Note=Somatic mutations in KCNJ5 have been found in aldosterone-producing adrenal adenomas and can be responsible for aldosteronism associated with cell autonomous proliferation. APAs are typically solitary, well circumscribed tumors diagnosed between ages 30 and 70. They come to medical attention due to new or worsening hypertension, often with hypokalemia. The precise role of KCNJ5 mutations in APA is under debate. They produce increased sodium conductance and cell depolarization, which in adrenal glomerulosa cells produces calcium entry, the signal for aldosterone production and cell proliferation. However, they may not be causative of APA development but may be a consequence of tumorigenesis, playing only a contributory role toward aldosterone overproduction and tumor growth (PubMed 22275527). Somatic mutations in KCNJ5 have not been found in non-aldosterone secreting adrenal adenomas suggesting that they are specifically associated with APA (PubMed 22275527 and PubMed 22848660). {ECO 0000269|PubMed 21311022, ECO 0000269|PubMed 22203740, ECO 0000269|PubMed 22275527, ECO 0000269|PubMed 22848660}. # DrugBank DB00898 Ethanol # DrugBank DB01016 Glyburide # Ensembl ENST00000338350 ENSP00000339960; ENSG00000120457 # Ensembl ENST00000529694 ENSP00000433295; ENSG00000120457 # Ensembl ENST00000533599 ENSP00000434266; ENSG00000120457 # FUNCTION KCNJ5_HUMAN This potassium channel is controlled by G proteins. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by external barium. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0008076 voltage-gated potassium channel complex; TAS:ProtInc. # GO_component GO:0009897 external side of plasma membrane; IEA:Ensembl. # GO_component GO:0030315 T-tubule; IEA:Ensembl. # GO_function GO:0015467 G-protein activated inward rectifier potassium channel activity; TAS:UniProtKB. # GO_process GO:0006813 potassium ion transport; TAS:ProtInc. # GO_process GO:0010107 potassium ion import; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0055085 transmembrane transport # Gene3D 2.60.40.1400 -; 1. # Genevisible P48544 HS # HGNC HGNC:6266 KCNJ5 # InterPro IPR003277 K_chnl_inward-rec_Kir3.4 # InterPro IPR013518 K_chnl_inward-rec_Kir_cyto # InterPro IPR014756 Ig_E-set # InterPro IPR016449 K_chnl_inward-rec_Kir # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00720 [Cardiovascular disease] Jervell and Lange-Nielsen syndrome (JLNS) # KEGG_Disease H01603 [Endocrine disease] Primary aldosteronism # KEGG_Pathway ko04713 Circadian entrainment # KEGG_Pathway ko04723 Retrograde endocannabinoid signaling # KEGG_Pathway ko04726 Serotonergic synapse # KEGG_Pathway ko04728 Dopaminergic synapse # KEGG_Pathway ko05032 Morphine addiction # MIM 600734 gene # MIM 613485 phenotype # MIM 613677 phenotype # Organism KCNJ5_HUMAN Homo sapiens (Human) # Orphanet 101016 Romano-Ward syndrome # Orphanet 251274 Familial hyperaldosteronism type III # Orphanet 37553 Cardiodysrhythmic potassium-sensitive periodic paralysis # Orphanet 85142 Aldosterone-producing adenoma # PANTHER PTHR11767 PTHR11767 # PIR G02232 G02232 # PIRSF PIRSF005465 GIRK_kir # PRINTS PR01320 KIRCHANNEL # PRINTS PR01330 KIR34CHANNEL # Pfam PF01007 IRK # Proteomes UP000005640 Chromosome 11 # Reactome R-HSA-1296041 Activation of G protein gated Potassium channels # Reactome R-HSA-997272 Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits # RecName KCNJ5_HUMAN G protein-activated inward rectifier potassium channel 4 # RefSeq NP_000881 NM_000890.3 # RefSeq XP_011541111 XM_011542809.2 # RefSeq XP_011541112 XM_011542810.2 # SIMILARITY Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ5 subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION KCNJ5_HUMAN Membrane; Multi-pass membrane protein. # SUBUNIT May associate with GIRK1 and GIRK2 to form a G-protein- activated heteromultimer pore-forming unit. The resulting inward current is much larger (By similarity). {ECO 0000250}. # SUPFAM SSF81296 SSF81296 # TCDB 1.A.2.1 inward rectifier k(+) channel (irk-c) family # TISSUE SPECIFICITY Islets, exocrine pancreas and heart. Expressed in the adrenal cortex, particularly the zona glomerulosa. {ECO:0000269|PubMed 21311022}. # UCSC uc001qet human # eggNOG ENOG410XQ62 LUCA # eggNOG KOG3827 Eukaryota BLAST swissprot:KCNJ5_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCNJ5_HUMAN BioCyc ZFISH:ENSG00000120457-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000120457-MONOMER COXPRESdb 3762 http://coxpresdb.jp/data/gene/3762.shtml CleanEx HS_KCNJ5 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNJ5 DOI 10.1016/S0898-6568(99)00059-5 http://dx.doi.org/10.1016/S0898-6568(99)00059-5 DOI 10.1016/j.ajhg.2010.04.017 http://dx.doi.org/10.1016/j.ajhg.2010.04.017 DOI 10.1038/370456a0 http://dx.doi.org/10.1038/370456a0 DOI 10.1038/378792a0 http://dx.doi.org/10.1038/378792a0 DOI 10.1038/nature04632 http://dx.doi.org/10.1038/nature04632 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.1121407109 http://dx.doi.org/10.1073/pnas.1121407109 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1198785 http://dx.doi.org/10.1126/science.1198785 DOI 10.1161/HYPERTENSIONAHA.111.183996 http://dx.doi.org/10.1161/HYPERTENSIONAHA.111.183996 DOI 10.1161/HYPERTENSIONAHA.111.186478 http://dx.doi.org/10.1161/HYPERTENSIONAHA.111.186478 DOI 10.1371/journal.pone.0041926 http://dx.doi.org/10.1371/journal.pone.0041926 DrugBank DB00898 http://www.drugbank.ca/drugs/DB00898 DrugBank DB01016 http://www.drugbank.ca/drugs/DB01016 EMBL AK312837 http://www.ebi.ac.uk/ena/data/view/AK312837 EMBL AP000920 http://www.ebi.ac.uk/ena/data/view/AP000920 EMBL BC069386 http://www.ebi.ac.uk/ena/data/view/BC069386 EMBL BC069482 http://www.ebi.ac.uk/ena/data/view/BC069482 EMBL BC069499 http://www.ebi.ac.uk/ena/data/view/BC069499 EMBL BC069571 http://www.ebi.ac.uk/ena/data/view/BC069571 EMBL BC074838 http://www.ebi.ac.uk/ena/data/view/BC074838 EMBL BC074839 http://www.ebi.ac.uk/ena/data/view/BC074839 EMBL D50134 http://www.ebi.ac.uk/ena/data/view/D50134 EMBL L47208 http://www.ebi.ac.uk/ena/data/view/L47208 EMBL U39195 http://www.ebi.ac.uk/ena/data/view/U39195 EMBL U52154 http://www.ebi.ac.uk/ena/data/view/U52154 EMBL X83582 http://www.ebi.ac.uk/ena/data/view/X83582 Ensembl ENST00000338350 http://www.ensembl.org/id/ENST00000338350 Ensembl ENST00000529694 http://www.ensembl.org/id/ENST00000529694 Ensembl ENST00000533599 http://www.ensembl.org/id/ENST00000533599 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0008076 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008076 GO_component GO:0009897 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009897 GO_component GO:0030315 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030315 GO_function GO:0015467 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015467 GO_process GO:0006813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006813 GO_process GO:0010107 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010107 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 2.60.40.1400 http://www.cathdb.info/version/latest/superfamily/2.60.40.1400 GeneCards KCNJ5 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNJ5 GeneID 3762 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=3762 GeneTree ENSGT00760000118842 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118842 HGNC HGNC:6266 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6266 HOGENOM HOG000237325 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000237325&db=HOGENOM6 HOVERGEN HBG006178 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG006178&db=HOVERGEN HPA CAB022569 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB022569 HPA HPA014722 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA014722 HPA HPA017353 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA017353 InParanoid P48544 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P48544 InterPro IPR003277 http://www.ebi.ac.uk/interpro/entry/IPR003277 InterPro IPR013518 http://www.ebi.ac.uk/interpro/entry/IPR013518 InterPro IPR014756 http://www.ebi.ac.uk/interpro/entry/IPR014756 InterPro IPR016449 http://www.ebi.ac.uk/interpro/entry/IPR016449 Jabion 3762 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=3762 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00720 http://www.genome.jp/dbget-bin/www_bget?H00720 KEGG_Disease H01603 http://www.genome.jp/dbget-bin/www_bget?H01603 KEGG_Gene hsa:3762 http://www.genome.jp/dbget-bin/www_bget?hsa:3762 KEGG_Orthology KO:K04999 http://www.genome.jp/dbget-bin/www_bget?KO:K04999 KEGG_Pathway ko04713 http://www.genome.jp/kegg-bin/show_pathway?ko04713 KEGG_Pathway ko04723 http://www.genome.jp/kegg-bin/show_pathway?ko04723 KEGG_Pathway ko04726 http://www.genome.jp/kegg-bin/show_pathway?ko04726 KEGG_Pathway ko04728 http://www.genome.jp/kegg-bin/show_pathway?ko04728 KEGG_Pathway ko05032 http://www.genome.jp/kegg-bin/show_pathway?ko05032 MIM 600734 http://www.ncbi.nlm.nih.gov/omim/600734 MIM 613485 http://www.ncbi.nlm.nih.gov/omim/613485 MIM 613677 http://www.ncbi.nlm.nih.gov/omim/613677 MINT MINT-90031 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-90031 OMA MNQDMEI http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=MNQDMEI Orphanet 101016 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=101016 Orphanet 251274 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=251274 Orphanet 37553 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=37553 Orphanet 85142 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=85142 OrthoDB EOG091G08HC http://cegg.unige.ch/orthodb/results?searchtext=EOG091G08HC PANTHER PTHR11767 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11767 PRINTS PR01320 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01320 PRINTS PR01330 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01330 PSORT swissprot:KCNJ5_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCNJ5_HUMAN PSORT-B swissprot:KCNJ5_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCNJ5_HUMAN PSORT2 swissprot:KCNJ5_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCNJ5_HUMAN Pfam PF01007 http://pfam.xfam.org/family/PF01007 PharmGKB PA216 http://www.pharmgkb.org/do/serve?objId=PA216&objCls=Gene Phobius swissprot:KCNJ5_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCNJ5_HUMAN PhylomeDB P48544 http://phylomedb.org/?seqid=P48544 ProteinModelPortal P48544 http://www.proteinmodelportal.org/query/uniprot/P48544 PubMed 10659995 http://www.ncbi.nlm.nih.gov/pubmed/10659995 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16554811 http://www.ncbi.nlm.nih.gov/pubmed/16554811 PubMed 20560207 http://www.ncbi.nlm.nih.gov/pubmed/20560207 PubMed 21311022 http://www.ncbi.nlm.nih.gov/pubmed/21311022 PubMed 22203740 http://www.ncbi.nlm.nih.gov/pubmed/22203740 PubMed 22275527 http://www.ncbi.nlm.nih.gov/pubmed/22275527 PubMed 22308486 http://www.ncbi.nlm.nih.gov/pubmed/22308486 PubMed 22848660 http://www.ncbi.nlm.nih.gov/pubmed/22848660 PubMed 8047164 http://www.ncbi.nlm.nih.gov/pubmed/8047164 PubMed 8524415 http://www.ncbi.nlm.nih.gov/pubmed/8524415 PubMed 8558261 http://www.ncbi.nlm.nih.gov/pubmed/8558261 PubMed 8834003 http://www.ncbi.nlm.nih.gov/pubmed/8834003 Reactome R-HSA-1296041 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1296041 Reactome R-HSA-997272 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-997272 RefSeq NP_000881 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000881 RefSeq XP_011541111 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011541111 RefSeq XP_011541112 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011541112 SMR P48544 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P48544 STRING 9606.ENSP00000339960 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000339960&targetmode=cogs SUPFAM SSF81296 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81296 TCDB 1.A.2.1 http://www.tcdb.org/search/result.php?tc=1.A.2.1 UCSC uc001qet http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001qet&org=rat UniGene Hs.444595 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.444595 UniGene Hs.632109 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.632109 UniProtKB KCNJ5_HUMAN http://www.uniprot.org/uniprot/KCNJ5_HUMAN UniProtKB-AC P48544 http://www.uniprot.org/uniprot/P48544 charge swissprot:KCNJ5_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCNJ5_HUMAN eggNOG ENOG410XQ62 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XQ62 eggNOG KOG3827 http://eggnogapi.embl.de/nog_data/html/tree/KOG3827 epestfind swissprot:KCNJ5_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCNJ5_HUMAN garnier swissprot:KCNJ5_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCNJ5_HUMAN helixturnhelix swissprot:KCNJ5_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCNJ5_HUMAN hmoment swissprot:KCNJ5_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCNJ5_HUMAN iep swissprot:KCNJ5_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCNJ5_HUMAN inforesidue swissprot:KCNJ5_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCNJ5_HUMAN neXtProt NX_P48544 http://www.nextprot.org/db/entry/NX_P48544 octanol swissprot:KCNJ5_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCNJ5_HUMAN pepcoil swissprot:KCNJ5_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCNJ5_HUMAN pepdigest swissprot:KCNJ5_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCNJ5_HUMAN pepinfo swissprot:KCNJ5_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCNJ5_HUMAN pepnet swissprot:KCNJ5_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCNJ5_HUMAN pepstats swissprot:KCNJ5_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCNJ5_HUMAN pepwheel swissprot:KCNJ5_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCNJ5_HUMAN pepwindow swissprot:KCNJ5_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCNJ5_HUMAN sigcleave swissprot:KCNJ5_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCNJ5_HUMAN ## Database ID URL or Descriptions # AltName PLM_HUMAN FXYD domain-containing ion transport regulator 1 # BioGrid 111363 14 # Ensembl ENST00000351325 ENSP00000343314; ENSG00000266964 # Ensembl ENST00000455515 ENSP00000393611; ENSG00000266964 # Ensembl ENST00000588081 ENSP00000467727; ENSG00000266964 # Ensembl ENST00000588607 ENSP00000468535; ENSG00000266964 # Ensembl ENST00000588715 ENSP00000465289; ENSG00000266964 # Ensembl ENST00000589209 ENSP00000466398; ENSG00000266964 # Ensembl ENST00000612146 ENSP00000481244; ENSG00000266964 # ExpressionAtlas O00168 baseline and differential # FUNCTION PLM_HUMAN May have a functional role in muscle contraction. Induces a hyperpolarization-activated chloride current when exogenously expressed. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0034707 chloride channel complex; IEA:UniProtKB-KW. # GO_component GO:0042383 sarcolemma; ISS:BHF-UCL. # GO_component PLM_HUMAN GO 0005890 sodium potassium-exchanging ATPase complex; ISS BHF-UCL. # GO_function GO:0005254 chloride channel activity; TAS:ProtInc. # GO_function GO:0017080 sodium channel regulator activity; ISS:BHF-UCL. # GO_function GO:0044325 ion channel binding; ISS:BHF-UCL. # GO_process GO:0006821 chloride transport; TAS:ProtInc. # GO_process GO:0006936 muscle contraction; TAS:ProtInc. # GO_process GO:0008016 regulation of heart contraction; TAS:BHF-UCL. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0086036 regulation of cardiac muscle cell membrane potential; ISS:BHF-UCL. # GO_process GO:1903278 positive regulation of sodium ion export from cell; ISS:BHF-UCL. # GO_process GO:1903779 regulation of cardiac conduction; TAS:Reactome. # GO_process GO:2000649 regulation of sodium ion transmembrane transporter activity; ISS:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0055085 transmembrane transport # Genevisible O00168 HS # HGNC HGNC:4025 FXYD1 # InterPro IPR000272 Ion-transport_regulator_FXYD # KEGG_Brite ko02000 Transporters # MIM 602359 gene # Organism PLM_HUMAN Homo sapiens (Human) # PDB 2J1I Model; -; A/B/C/D=32-59 # PDB 2JO1 NMR; -; A=21-92 # PROSITE PS01310 FXYD # PTM PLM_HUMAN Major plasma membrane substrate for cAMP-dependent protein kinase (PK-A) and protein kinase C (PK-C) in several different tissues (By similarity). Phosphorylated in response to insulin and adrenergic stimulation. May be phosphorylated by DMPK. {ECO 0000250}. # PTM PLM_HUMAN Palmitoylation increases half-life and stability, it is enhanced upon phosphorylation at Ser-88 by PKA. {ECO 0000269|PubMed 10811636, ECO 0000269|PubMed 21868384}. # Pfam PF02038 ATP1G1_PLM_MAT8 # ProDom PD005989 PD005989 # Proteomes UP000005640 Chromosome 19 # Reactome R-HSA-5578775 Ion homeostasis # Reactome R-HSA-936837 Ion transport by P-type ATPases # RecName PLM_HUMAN Phospholemman # RefSeq NP_001265646 NM_001278717.1 # RefSeq NP_001265647 NM_001278718.1 # RefSeq NP_005022 NM_005031.4 # RefSeq NP_068702 NM_021902.3 # RefSeq XP_016882363 XM_017026874.1 # SIMILARITY Belongs to the FXYD family. {ECO 0000305}. # SUBCELLULAR LOCATION PLM_HUMAN Membrane; Single-pass type I membrane protein. # TISSUE SPECIFICITY PLM_HUMAN Highest expression in skeletal muscle and heart. Moderate levels in brain, placenta, lung, liver, pancreas, uterus, bladder, prostate, small intestine and colon with mucosal lining. Very low levels in kidney, colon and small intestine without mucosa, prostate without endothelial lining, spleen, and testis. # UCSC uc002nyc human # eggNOG ENOG410J08K Eukaryota # eggNOG ENOG410YYN6 LUCA BLAST swissprot:PLM_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:PLM_HUMAN BioCyc ZFISH:G66-31696-MONOMER http://biocyc.org/getid?id=ZFISH:G66-31696-MONOMER COXPRESdb 5348 http://coxpresdb.jp/data/gene/5348.shtml CleanEx HS_FXYD1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_FXYD1 DOI 10.1006/geno.1997.4665 http://dx.doi.org/10.1006/geno.1997.4665 DOI 10.1006/geno.2000.6274 http://dx.doi.org/10.1006/geno.2000.6274 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.M000899200 http://dx.doi.org/10.1074/jbc.M000899200 DOI 10.1074/jbc.M111.282145 http://dx.doi.org/10.1074/jbc.M111.282145 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AK289811 http://www.ebi.ac.uk/ena/data/view/AK289811 EMBL BC032800 http://www.ebi.ac.uk/ena/data/view/BC032800 EMBL U72245 http://www.ebi.ac.uk/ena/data/view/U72245 Ensembl ENST00000351325 http://www.ensembl.org/id/ENST00000351325 Ensembl ENST00000455515 http://www.ensembl.org/id/ENST00000455515 Ensembl ENST00000588081 http://www.ensembl.org/id/ENST00000588081 Ensembl ENST00000588607 http://www.ensembl.org/id/ENST00000588607 Ensembl ENST00000588715 http://www.ensembl.org/id/ENST00000588715 Ensembl ENST00000589209 http://www.ensembl.org/id/ENST00000589209 Ensembl ENST00000612146 http://www.ensembl.org/id/ENST00000612146 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0005890 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005890 GO_component GO:0034707 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034707 GO_component GO:0042383 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042383 GO_function GO:0005254 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005254 GO_function GO:0017080 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0017080 GO_function GO:0044325 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044325 GO_process GO:0006821 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006821 GO_process GO:0006936 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006936 GO_process GO:0008016 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008016 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0086036 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086036 GO_process GO:1903278 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903278 GO_process GO:1903779 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903779 GO_process GO:2000649 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000649 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards FXYD1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=FXYD1 GeneID 5348 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=5348 GeneTree ENSGT00530000063932 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000063932 HGNC HGNC:4025 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:4025 HOGENOM HOG000234467 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000234467&db=HOGENOM6 HOVERGEN HBG008212 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG008212&db=HOVERGEN HPA HPA026873 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA026873 InParanoid O00168 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O00168 InterPro IPR000272 http://www.ebi.ac.uk/interpro/entry/IPR000272 Jabion 5348 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=5348 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Gene hsa:5348 http://www.genome.jp/dbget-bin/www_bget?hsa:5348 KEGG_Orthology KO:K13360 http://www.genome.jp/dbget-bin/www_bget?KO:K13360 MIM 602359 http://www.ncbi.nlm.nih.gov/omim/602359 PDB 2J1I http://www.ebi.ac.uk/pdbe-srv/view/entry/2J1I PDB 2JO1 http://www.ebi.ac.uk/pdbe-srv/view/entry/2JO1 PDBsum 2J1I http://www.ebi.ac.uk/pdbsum/2J1I PDBsum 2JO1 http://www.ebi.ac.uk/pdbsum/2JO1 PROSITE PS01310 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS01310 PSORT swissprot:PLM_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:PLM_HUMAN PSORT-B swissprot:PLM_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:PLM_HUMAN PSORT2 swissprot:PLM_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:PLM_HUMAN Pfam PF02038 http://pfam.xfam.org/family/PF02038 PharmGKB PA28441 http://www.pharmgkb.org/do/serve?objId=PA28441&objCls=Gene Phobius swissprot:PLM_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:PLM_HUMAN PhylomeDB O00168 http://phylomedb.org/?seqid=O00168 ProteinModelPortal O00168 http://www.proteinmodelportal.org/query/uniprot/O00168 PubMed 10811636 http://www.ncbi.nlm.nih.gov/pubmed/10811636 PubMed 10950925 http://www.ncbi.nlm.nih.gov/pubmed/10950925 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 21868384 http://www.ncbi.nlm.nih.gov/pubmed/21868384 PubMed 9169143 http://www.ncbi.nlm.nih.gov/pubmed/9169143 Reactome R-HSA-5578775 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5578775 Reactome R-HSA-936837 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-936837 RefSeq NP_001265646 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001265646 RefSeq NP_001265647 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001265647 RefSeq NP_005022 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_005022 RefSeq NP_068702 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_068702 RefSeq XP_016882363 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016882363 SMR O00168 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=O00168 STRING 9606.ENSP00000343314 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000343314&targetmode=cogs UCSC uc002nyc http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002nyc&org=rat UniGene Hs.442498 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.442498 UniProtKB PLM_HUMAN http://www.uniprot.org/uniprot/PLM_HUMAN UniProtKB-AC O00168 http://www.uniprot.org/uniprot/O00168 charge swissprot:PLM_HUMAN http://rest.g-language.org/emboss/charge/swissprot:PLM_HUMAN eggNOG ENOG410J08K http://eggnogapi.embl.de/nog_data/html/tree/ENOG410J08K eggNOG ENOG410YYN6 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410YYN6 epestfind swissprot:PLM_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:PLM_HUMAN garnier swissprot:PLM_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:PLM_HUMAN helixturnhelix swissprot:PLM_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:PLM_HUMAN hmoment swissprot:PLM_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:PLM_HUMAN iep swissprot:PLM_HUMAN http://rest.g-language.org/emboss/iep/swissprot:PLM_HUMAN inforesidue swissprot:PLM_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:PLM_HUMAN neXtProt NX_O00168 http://www.nextprot.org/db/entry/NX_O00168 octanol swissprot:PLM_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:PLM_HUMAN pepcoil swissprot:PLM_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:PLM_HUMAN pepdigest swissprot:PLM_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:PLM_HUMAN pepinfo swissprot:PLM_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:PLM_HUMAN pepnet swissprot:PLM_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:PLM_HUMAN pepstats swissprot:PLM_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:PLM_HUMAN pepwheel swissprot:PLM_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:PLM_HUMAN pepwindow swissprot:PLM_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:PLM_HUMAN sigcleave swissprot:PLM_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:PLM_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS TRPC6_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9Y210-1; Sequence=Displayed; Name=2; IsoId=Q9Y210-2; Sequence=VSP_006572; Name=3; IsoId=Q9Y210-3; Sequence=VSP_006573; # AltName TRPC6_HUMAN Transient receptor protein 6 # BioGrid 113076 12 # CCDS CCDS8311 -. [Q9Y210-1] # ChiTaRS TRPC6 human # DISEASE TRPC6_HUMAN Focal segmental glomerulosclerosis 2 (FSGS2) [MIM 603965] A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation. {ECO 0000269|PubMed 15879175, ECO 0000269|PubMed 15924139, ECO 0000269|PubMed 21734084}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000344327 ENSP00000340913; ENSG00000137672. [Q9Y210-1] # Ensembl ENST00000348423 ENSP00000343672; ENSG00000137672. [Q9Y210-2] # Ensembl ENST00000360497 ENSP00000353687; ENSG00000137672. [Q9Y210-3] # ExpressionAtlas Q9Y210 baseline and differential # FUNCTION TRPC6_HUMAN Thought to form a receptor-activated non-selective calcium permeant cation channel. Probably is operated by a phosphatidylinositol second messenger system activated by receptor tyrosine kinases or G-protein coupled receptors. Activated by diacylglycerol (DAG) in a membrane-delimited fashion, independently of protein kinase C. Seems not to be activated by intracellular calcium store depletion. # GO_component GO:0005737 cytoplasm; IDA:UniProtKB. # GO_component GO:0005886 plasma membrane; IDA:MGI. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0036057 slit diaphragm; IEA:Ensembl. # GO_function GO:0005262 calcium channel activity; TAS:Reactome. # GO_function GO:0015279 store-operated calcium channel activity; IBA:GO_Central. # GO_function GO:0070679 inositol 1,4,5 trisphosphate binding; IDA:BHF-UCL. # GO_process GO:0006812 cation transport; TAS:ProtInc. # GO_process GO:0006828 manganese ion transport; IBA:GO_Central. # GO_process GO:0007204 positive regulation of cytosolic calcium ion concentration; IEA:Ensembl. # GO_process GO:0007338 single fertilization; IBA:GO_Central. # GO_process GO:0007568 aging; IEA:Ensembl. # GO_process GO:0010800 positive regulation of peptidyl-threonine phosphorylation; IEA:Ensembl. # GO_process GO:0030168 platelet activation; TAS:Reactome. # GO_process GO:0030182 neuron differentiation; IEA:Ensembl. # GO_process GO:0032414 positive regulation of ion transmembrane transporter activity; IDA:MGI. # GO_process GO:0045666 positive regulation of neuron differentiation; IEA:Ensembl. # GO_process GO:0050774 negative regulation of dendrite morphogenesis; IEA:Ensembl. # GO_process GO:0051480 regulation of cytosolic calcium ion concentration; IBA:GO_Central. # GO_process GO:0051928 positive regulation of calcium ion transport; IDA:MGI. # GO_process GO:0070301 cellular response to hydrogen peroxide; IEA:Ensembl. # GO_process GO:0070588 calcium ion transmembrane transport; TAS:Reactome. # GO_process GO:0071456 cellular response to hypoxia; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007568 aging # GOslim_process GO:0008150 biological_process # GOslim_process GO:0030154 cell differentiation # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.25.40.20 -; 1. # Genevisible Q9Y210 HS # HGNC HGNC:12338 TRPC6 # INTERACTION TRPC6_HUMAN P20591 MX1; NbExp=4; IntAct=EBI-929362, EBI-929476; # IntAct Q9Y210 2 # InterPro IPR002110 Ankyrin_rpt # InterPro IPR002153 TRPC_channel # InterPro IPR004729 TRP_channel # InterPro IPR005462 TRPC6_channel # InterPro IPR005821 Ion_trans_dom # InterPro IPR013555 TRP_dom # InterPro IPR020683 Ankyrin_rpt-contain_dom # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00626 [Kidney disease] Focal segmental glomerulosclerosis # MIM 603652 gene # MIM 603965 phenotype # Organism TRPC6_HUMAN Homo sapiens (Human) # Orphanet 93213 Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis # PANTHER PTHR10117 PTHR10117; 2 # PANTHER PTHR10117:SF7 PTHR10117:SF7; 2 # PRINTS PR01097 TRNSRECEPTRP # PRINTS PR01647 TRPCHANNEL6 # PROSITE PS50088 ANK_REPEAT # PROSITE PS50297 ANK_REP_REGION; 2 # PTM TRPC6_HUMAN Phosphorylated by FYN, leading to an increase of TRPC6 channel activity. {ECO 0000250}. # Pfam PF00520 Ion_trans # Pfam PF08344 TRP_2 # Pfam PF12796 Ank_2 # Proteomes UP000005640 Chromosome 11 # Reactome R-HSA-114508 Effects of PIP2 hydrolysis # Reactome R-HSA-139853 Elevation of cytosolic Ca2+ levels # Reactome R-HSA-3295583 TRP channels # Reactome R-HSA-418890 Role of second messengers in netrin-1 signaling # RecName TRPC6_HUMAN Short transient receptor potential channel 6 # RefSeq NP_004612 NM_004621.5. [Q9Y210-1] # RefSeq XP_016873710 XM_017018221.1. [Q9Y210-2] # SIMILARITY Belongs to the transient receptor (TC 1.A.4) family. STrpC subfamily. TRPC6 sub-subfamily. {ECO 0000305}. # SIMILARITY Contains 4 ANK repeats. {ECO:0000255|PROSITE- ProRule PRU00023}. # SMART SM00248 ANK; 3 # SUBCELLULAR LOCATION TRPC6_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # SUBUNIT TRPC6_HUMAN Interacts with MX1 and RNF24. {ECO 0000269|PubMed 15757897, ECO 0000269|PubMed 17850865}. # SUPFAM SSF48403 SSF48403 # TCDB 1.A.4.1 the transient receptor potential ca(2+) channel (trp-cc) family # TIGRFAMs TIGR00870 trp # TISSUE SPECIFICITY Expressed primarily in placenta, lung, spleen, ovary and small intestine. Expressed in podocytes and is a component of the glomerular slit diaphragm. {ECO:0000269|PubMed 15924139}. # UCSC uc001pgk human. [Q9Y210-1] # eggNOG ENOG410XQ0Y LUCA # eggNOG KOG3609 Eukaryota BLAST swissprot:TRPC6_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:TRPC6_HUMAN BioCyc ZFISH:ENSG00000137672-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000137672-MONOMER COXPRESdb 7225 http://coxpresdb.jp/data/gene/7225.shtml CleanEx HS_TRPC6 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_TRPC6 DOI 10.1016/j.ceca.2007.07.009 http://dx.doi.org/10.1016/j.ceca.2007.07.009 DOI 10.1021/pr0704130 http://dx.doi.org/10.1021/pr0704130 DOI 10.1038/16711 http://dx.doi.org/10.1038/16711 DOI 10.1038/ng1592 http://dx.doi.org/10.1038/ng1592 DOI 10.1074/jbc.M003408200 http://dx.doi.org/10.1074/jbc.M003408200 DOI 10.1074/jbc.M302983200 http://dx.doi.org/10.1074/jbc.M302983200 DOI 10.1074/jbc.M500391200 http://dx.doi.org/10.1074/jbc.M500391200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1106215 http://dx.doi.org/10.1126/science.1106215 DOI 10.2215/CJN.07830910 http://dx.doi.org/10.2215/CJN.07830910 EMBL AF080394 http://www.ebi.ac.uk/ena/data/view/AF080394 EMBL AJ006276 http://www.ebi.ac.uk/ena/data/view/AJ006276 EMBL AJ007018 http://www.ebi.ac.uk/ena/data/view/AJ007018 EMBL AJ271066 http://www.ebi.ac.uk/ena/data/view/AJ271066 EMBL AJ271067 http://www.ebi.ac.uk/ena/data/view/AJ271067 EMBL AJ271068 http://www.ebi.ac.uk/ena/data/view/AJ271068 EMBL BC093658 http://www.ebi.ac.uk/ena/data/view/BC093658 EMBL BC093660 http://www.ebi.ac.uk/ena/data/view/BC093660 Ensembl ENST00000344327 http://www.ensembl.org/id/ENST00000344327 Ensembl ENST00000348423 http://www.ensembl.org/id/ENST00000348423 Ensembl ENST00000360497 http://www.ensembl.org/id/ENST00000360497 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0036057 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0036057 GO_function GO:0005262 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005262 GO_function GO:0015279 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015279 GO_function GO:0070679 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070679 GO_process GO:0006812 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006812 GO_process GO:0006828 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006828 GO_process GO:0007204 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007204 GO_process GO:0007338 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007338 GO_process GO:0007568 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007568 GO_process GO:0010800 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010800 GO_process GO:0030168 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030168 GO_process GO:0030182 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030182 GO_process GO:0032414 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032414 GO_process GO:0045666 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045666 GO_process GO:0050774 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050774 GO_process GO:0051480 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051480 GO_process GO:0051928 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051928 GO_process GO:0070301 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070301 GO_process GO:0070588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070588 GO_process GO:0071456 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071456 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007568 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007568 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0030154 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030154 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.25.40.20 http://www.cathdb.info/version/latest/superfamily/1.25.40.20 GeneCards TRPC6 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=TRPC6 GeneID 7225 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=7225 GeneTree ENSGT00760000119180 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119180 HGNC HGNC:12338 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:12338 HOGENOM HOG000020590 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000020590&db=HOGENOM6 HOVERGEN HBG068337 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG068337&db=HOVERGEN HPA HPA045098 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA045098 InParanoid Q9Y210 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9Y210 IntAct Q9Y210 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9Y210* InterPro IPR002110 http://www.ebi.ac.uk/interpro/entry/IPR002110 InterPro IPR002153 http://www.ebi.ac.uk/interpro/entry/IPR002153 InterPro IPR004729 http://www.ebi.ac.uk/interpro/entry/IPR004729 InterPro IPR005462 http://www.ebi.ac.uk/interpro/entry/IPR005462 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR013555 http://www.ebi.ac.uk/interpro/entry/IPR013555 InterPro IPR020683 http://www.ebi.ac.uk/interpro/entry/IPR020683 Jabion 7225 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=7225 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00626 http://www.genome.jp/dbget-bin/www_bget?H00626 KEGG_Gene hsa:7225 http://www.genome.jp/dbget-bin/www_bget?hsa:7225 KEGG_Orthology KO:K04969 http://www.genome.jp/dbget-bin/www_bget?KO:K04969 MIM 603652 http://www.ncbi.nlm.nih.gov/omim/603652 MIM 603965 http://www.ncbi.nlm.nih.gov/omim/603965 OMA QAPLPCY http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=QAPLPCY Orphanet 93213 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=93213 OrthoDB EOG091G01FB http://cegg.unige.ch/orthodb/results?searchtext=EOG091G01FB PANTHER PTHR10117 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10117 PANTHER PTHR10117:SF7 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10117:SF7 PRINTS PR01097 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01097 PRINTS PR01647 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01647 PROSITE PS50088 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50088 PROSITE PS50297 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50297 PSORT swissprot:TRPC6_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:TRPC6_HUMAN PSORT-B swissprot:TRPC6_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:TRPC6_HUMAN PSORT2 swissprot:TRPC6_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:TRPC6_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF08344 http://pfam.xfam.org/family/PF08344 Pfam PF12796 http://pfam.xfam.org/family/PF12796 PharmGKB PA37011 http://www.pharmgkb.org/do/serve?objId=PA37011&objCls=Gene Phobius swissprot:TRPC6_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:TRPC6_HUMAN PhylomeDB Q9Y210 http://phylomedb.org/?seqid=Q9Y210 ProteinModelPortal Q9Y210 http://www.proteinmodelportal.org/query/uniprot/Q9Y210 PubMed 10816590 http://www.ncbi.nlm.nih.gov/pubmed/10816590 PubMed 12970363 http://www.ncbi.nlm.nih.gov/pubmed/12970363 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15757897 http://www.ncbi.nlm.nih.gov/pubmed/15757897 PubMed 15879175 http://www.ncbi.nlm.nih.gov/pubmed/15879175 PubMed 15924139 http://www.ncbi.nlm.nih.gov/pubmed/15924139 PubMed 17850865 http://www.ncbi.nlm.nih.gov/pubmed/17850865 PubMed 18088087 http://www.ncbi.nlm.nih.gov/pubmed/18088087 PubMed 21734084 http://www.ncbi.nlm.nih.gov/pubmed/21734084 PubMed 9925922 http://www.ncbi.nlm.nih.gov/pubmed/9925922 PubMed 9930701 http://www.ncbi.nlm.nih.gov/pubmed/9930701 Reactome R-HSA-114508 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-114508 Reactome R-HSA-139853 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-139853 Reactome R-HSA-3295583 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-3295583 Reactome R-HSA-418890 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-418890 RefSeq NP_004612 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004612 RefSeq XP_016873710 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016873710 SMART SM00248 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00248 STRING 9606.ENSP00000340913 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000340913&targetmode=cogs SUPFAM SSF48403 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48403 TCDB 1.A.4.1 http://www.tcdb.org/search/result.php?tc=1.A.4.1 TIGRFAMs TIGR00870 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00870 UCSC uc001pgk http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001pgk&org=rat UniGene Hs.159003 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.159003 UniProtKB TRPC6_HUMAN http://www.uniprot.org/uniprot/TRPC6_HUMAN UniProtKB-AC Q9Y210 http://www.uniprot.org/uniprot/Q9Y210 charge swissprot:TRPC6_HUMAN http://rest.g-language.org/emboss/charge/swissprot:TRPC6_HUMAN eggNOG ENOG410XQ0Y http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XQ0Y eggNOG KOG3609 http://eggnogapi.embl.de/nog_data/html/tree/KOG3609 epestfind swissprot:TRPC6_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:TRPC6_HUMAN garnier swissprot:TRPC6_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:TRPC6_HUMAN helixturnhelix swissprot:TRPC6_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:TRPC6_HUMAN hmoment swissprot:TRPC6_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:TRPC6_HUMAN iep swissprot:TRPC6_HUMAN http://rest.g-language.org/emboss/iep/swissprot:TRPC6_HUMAN inforesidue swissprot:TRPC6_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:TRPC6_HUMAN neXtProt NX_Q9Y210 http://www.nextprot.org/db/entry/NX_Q9Y210 octanol swissprot:TRPC6_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:TRPC6_HUMAN pepcoil swissprot:TRPC6_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:TRPC6_HUMAN pepdigest swissprot:TRPC6_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:TRPC6_HUMAN pepinfo swissprot:TRPC6_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:TRPC6_HUMAN pepnet swissprot:TRPC6_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:TRPC6_HUMAN pepstats swissprot:TRPC6_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:TRPC6_HUMAN pepwheel swissprot:TRPC6_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:TRPC6_HUMAN pepwindow swissprot:TRPC6_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:TRPC6_HUMAN sigcleave swissprot:TRPC6_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:TRPC6_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS PANX1_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96RD7-1; Sequence=Displayed; Name=2; IsoId=Q96RD7-2; Sequence=VSP_011476; # BioGrid 117295 12 # CCDS CCDS8296 -. [Q96RD7-1] # ChiTaRS PANX1 human # DrugBank DB01032 Probenecid # Ensembl ENST00000227638 ENSP00000227638; ENSG00000110218. [Q96RD7-1] # Ensembl ENST00000436171 ENSP00000411461; ENSG00000110218. [Q96RD7-2] # ExpressionAtlas Q96RD7 baseline and differential # FUNCTION PANX1_HUMAN Structural component of the gap junctions and the hemichannels. May play a role as a Ca(2+)-leak channel to regulate ER Ca(2+) homeostasis. {ECO 0000269|PubMed 16908669, ECO 0000269|PubMed 20829356}. # GO_component GO:0005783 endoplasmic reticulum; IDA:UniProtKB. # GO_component GO:0005789 endoplasmic reticulum membrane; IEA:UniProtKB-SubCell. # GO_component GO:0005886 plasma membrane; IDA:BHF-UCL. # GO_component GO:0005921 gap junction; IEA:UniProtKB-SubCell. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0032059 bleb; IDA:BHF-UCL. # GO_component GO:0043234 protein complex; IEA:Ensembl. # GO_function GO:0005102 receptor binding; IPI:UniProtKB. # GO_function GO:0005262 calcium channel activity; IMP:UniProtKB. # GO_function GO:0022840 leak channel activity; IMP:UniProtKB. # GO_function GO:0055077 gap junction hemi-channel activity; IDA:UniProtKB. # GO_process GO:0002931 response to ischemia; IEA:Ensembl. # GO_process GO:0006812 cation transport; IDA:BHF-UCL. # GO_process GO:0006816 calcium ion transport; IMP:UniProtKB. # GO_process GO:0007267 cell-cell signaling; IBA:GO_Central. # GO_process GO:0033198 response to ATP; IEA:Ensembl. # GO_process GO:0034214 protein hexamerization; IDA:UniProtKB. # GO_process GO:0050717 positive regulation of interleukin-1 alpha secretion; IEA:Ensembl. # GO_process GO:0050718 positive regulation of interleukin-1 beta secretion; IDA:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # Genevisible Q96RD7 HS # HGNC HGNC:8599 PANX1 # IntAct Q96RD7 7 # InterPro IPR000990 Innexin # KEGG_Brite ko02000 Transporters # MIM 608420 gene # Organism PANX1_HUMAN Homo sapiens (Human) # PROSITE PS51013 PANNEXIN # PTM PANX1_HUMAN S-nitrosylation inhibits channel currents and ATP release. {ECO 0000250}. # Pfam PF00876 Innexin # Proteomes UP000005640 Chromosome 11 # Reactome R-HSA-112303 Electric Transmission Across Gap Junctions # Reactome R-HSA-844456 The NLRP3 inflammasome # RecName PANX1_HUMAN Pannexin-1 # RefSeq NP_056183 NM_015368.3. [Q96RD7-1] # SIMILARITY Belongs to the pannexin family. {ECO:0000255|PROSITE- ProRule PRU00351}. # SUBCELLULAR LOCATION PANX1_HUMAN Cell membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000255|PROSITE-ProRule PRU00351}. Cell junction, gap junction {ECO 0000269|PubMed 16908669, ECO 0000269|PubMed 17715132}. Endoplasmic reticulum membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000255|PROSITE- ProRule PRU00351}. # SUBUNIT Homohexamer. Forms homomeric or PANX1/PANX2-heteromeric intercellular channels on coexpression in paired Xenopus oocytes (By similarity). {ECO 0000250}. # TCDB 1.A.25.2 the gap junction-forming innexin (innexin) family # UCSC uc001peq human. [Q96RD7-1] # WEB RESOURCE PANX1_HUMAN Name=Wikipedia; Note=Pannexin entry; URL="https //en.wikipedia.org/wiki/Pannexin"; # eggNOG ENOG410II5X Eukaryota # eggNOG ENOG410YA5H LUCA BLAST swissprot:PANX1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:PANX1_HUMAN BioCyc ZFISH:ENSG00000110218-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000110218-MONOMER COXPRESdb 24145 http://coxpresdb.jp/data/gene/24145.shtml CleanEx HS_PANX1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_PANX1 DIP DIP-43936N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-43936N DOI 10.1016/j.ygeno.2003.09.025 http://dx.doi.org/10.1016/j.ygeno.2003.09.025 DOI 10.1038/nature04632 http://dx.doi.org/10.1038/nature04632 DOI 10.1074/jbc.M110.101014 http://dx.doi.org/10.1074/jbc.M110.101014 DOI 10.1074/jbc.M702422200 http://dx.doi.org/10.1074/jbc.M702422200 DOI 10.1083/jcb.200601115 http://dx.doi.org/10.1083/jcb.200601115 DOI 10.1093/dnares/12.2.117 http://dx.doi.org/10.1093/dnares/12.2.117 DOI 10.1101/gr.1293003 http://dx.doi.org/10.1101/gr.1293003 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DrugBank DB01032 http://www.drugbank.ca/drugs/DB01032 EMBL AF093239 http://www.ebi.ac.uk/ena/data/view/AF093239 EMBL AF398506 http://www.ebi.ac.uk/ena/data/view/AF398506 EMBL AF398507 http://www.ebi.ac.uk/ena/data/view/AF398507 EMBL AF398508 http://www.ebi.ac.uk/ena/data/view/AF398508 EMBL AF398509 http://www.ebi.ac.uk/ena/data/view/AF398509 EMBL AH010945 http://www.ebi.ac.uk/ena/data/view/AH010945 EMBL AK074897 http://www.ebi.ac.uk/ena/data/view/AK074897 EMBL AP003966 http://www.ebi.ac.uk/ena/data/view/AP003966 EMBL AY048509 http://www.ebi.ac.uk/ena/data/view/AY048509 EMBL AY359023 http://www.ebi.ac.uk/ena/data/view/AY359023 EMBL BC016931 http://www.ebi.ac.uk/ena/data/view/BC016931 Ensembl ENST00000227638 http://www.ensembl.org/id/ENST00000227638 Ensembl ENST00000436171 http://www.ensembl.org/id/ENST00000436171 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GO_component GO:0005789 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005789 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005921 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005921 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0032059 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032059 GO_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GO_function GO:0005102 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005102 GO_function GO:0005262 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005262 GO_function GO:0022840 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022840 GO_function GO:0055077 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055077 GO_process GO:0002931 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002931 GO_process GO:0006812 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006812 GO_process GO:0006816 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006816 GO_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GO_process GO:0033198 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033198 GO_process GO:0034214 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034214 GO_process GO:0050717 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050717 GO_process GO:0050718 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050718 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GeneCards PANX1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=PANX1 GeneID 24145 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=24145 GeneTree ENSGT00390000009703 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000009703 H-InvDB HIX0010028 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0010028 HGNC HGNC:8599 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:8599 HOVERGEN HBG053497 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG053497&db=HOVERGEN HPA HPA016930 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA016930 InParanoid Q96RD7 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q96RD7 IntAct Q96RD7 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q96RD7* InterPro IPR000990 http://www.ebi.ac.uk/interpro/entry/IPR000990 Jabion 24145 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=24145 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Gene hsa:24145 http://www.genome.jp/dbget-bin/www_bget?hsa:24145 KEGG_Orthology KO:K03443 http://www.genome.jp/dbget-bin/www_bget?KO:K03443 MIM 608420 http://www.ncbi.nlm.nih.gov/omim/608420 MINT MINT-3379479 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-3379479 OMA VPFRQKT http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=VPFRQKT OrthoDB EOG091G086D http://cegg.unige.ch/orthodb/results?searchtext=EOG091G086D PROSITE PS51013 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51013 PSORT swissprot:PANX1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:PANX1_HUMAN PSORT-B swissprot:PANX1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:PANX1_HUMAN PSORT2 swissprot:PANX1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:PANX1_HUMAN Pfam PF00876 http://pfam.xfam.org/family/PF00876 PharmGKB PA32929 http://www.pharmgkb.org/do/serve?objId=PA32929&objCls=Gene Phobius swissprot:PANX1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:PANX1_HUMAN PhylomeDB Q96RD7 http://phylomedb.org/?seqid=Q96RD7 ProteinModelPortal Q96RD7 http://www.proteinmodelportal.org/query/uniprot/Q96RD7 PubMed 12975309 http://www.ncbi.nlm.nih.gov/pubmed/12975309 PubMed 15028292 http://www.ncbi.nlm.nih.gov/pubmed/15028292 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16303743 http://www.ncbi.nlm.nih.gov/pubmed/16303743 PubMed 16554811 http://www.ncbi.nlm.nih.gov/pubmed/16554811 PubMed 16908669 http://www.ncbi.nlm.nih.gov/pubmed/16908669 PubMed 17715132 http://www.ncbi.nlm.nih.gov/pubmed/17715132 PubMed 20829356 http://www.ncbi.nlm.nih.gov/pubmed/20829356 Reactome R-HSA-112303 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-112303 Reactome R-HSA-844456 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-844456 RefSeq NP_056183 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_056183 STRING 9606.ENSP00000227638 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000227638&targetmode=cogs TCDB 1.A.25.2 http://www.tcdb.org/search/result.php?tc=1.A.25.2 UCSC uc001peq http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001peq&org=rat UniGene Hs.591976 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.591976 UniProtKB PANX1_HUMAN http://www.uniprot.org/uniprot/PANX1_HUMAN UniProtKB-AC Q96RD7 http://www.uniprot.org/uniprot/Q96RD7 charge swissprot:PANX1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:PANX1_HUMAN eggNOG ENOG410II5X http://eggnogapi.embl.de/nog_data/html/tree/ENOG410II5X eggNOG ENOG410YA5H http://eggnogapi.embl.de/nog_data/html/tree/ENOG410YA5H epestfind swissprot:PANX1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:PANX1_HUMAN garnier swissprot:PANX1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:PANX1_HUMAN helixturnhelix swissprot:PANX1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:PANX1_HUMAN hmoment swissprot:PANX1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:PANX1_HUMAN iep swissprot:PANX1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:PANX1_HUMAN inforesidue swissprot:PANX1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:PANX1_HUMAN neXtProt NX_Q96RD7 http://www.nextprot.org/db/entry/NX_Q96RD7 octanol swissprot:PANX1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:PANX1_HUMAN pepcoil swissprot:PANX1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:PANX1_HUMAN pepdigest swissprot:PANX1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:PANX1_HUMAN pepinfo swissprot:PANX1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:PANX1_HUMAN pepnet swissprot:PANX1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:PANX1_HUMAN pepstats swissprot:PANX1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:PANX1_HUMAN pepwheel swissprot:PANX1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:PANX1_HUMAN pepwindow swissprot:PANX1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:PANX1_HUMAN sigcleave swissprot:PANX1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:PANX1_HUMAN ## Database ID URL or Descriptions # Ensembl ENST00000286808 ENSP00000286808; ENSG00000156282 # FUNCTION CLD17_HUMAN Channel-forming tight junction protein with selectivity for anions, including chloride and bicarbonate, and for solutes smaller than 9 Angstrom in diameter. In the kidney proximal tubule, may be involved in quantitative reabsorption of filtered anions. Does not affect water permeability. {ECO 0000269|PubMed 22402829}. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0005923 bicellular tight junction; ISS:UniProtKB. # GO_component GO:0034707 chloride channel complex; IEA:UniProtKB-KW. # GO_function GO:0005198 structural molecule activity; IEA:InterPro. # GO_function GO:0005254 chloride channel activity; IEA:UniProtKB-KW. # GO_function GO:0042802 identical protein binding; ISS:UniProtKB. # GO_process GO:0016338 calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules; ISS:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0005198 structural molecule activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0007155 cell adhesion # Genevisible P56750 HS # HGNC HGNC:2038 CLDN17 # InterPro IPR004031 PMP22/EMP/MP20/Claudin # InterPro IPR006187 Claudin # InterPro IPR017974 Claudin_CS # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04516 Cell adhesion molecules and their ligands # KEGG_Pathway ko04514 Cell adhesion molecules (CAMs) # KEGG_Pathway ko04530 Tight junction # KEGG_Pathway ko04670 Leukocyte transendothelial migration # KEGG_Pathway ko05160 Hepatitis C # MIM 617005 gene # Organism CLD17_HUMAN Homo sapiens (Human) # PANTHER PTHR12002 PTHR12002 # PROSITE PS01346 CLAUDIN # Pfam PF00822 PMP22_Claudin # Proteomes UP000005640 Chromosome 21 # Reactome R-HSA-420029 Tight junction interactions # RecName CLD17_HUMAN Claudin-17 # RefSeq NP_036263 NM_012131.2 # SEQUENCE CAUTION Sequence=AAQ88461.1; Type=Frameshift; Positions=31; Evidence={ECO 0000305}; # SIMILARITY Belongs to the claudin family. {ECO 0000305}. # SUBCELLULAR LOCATION CLD17_HUMAN Cell junction, tight junction {ECO 0000269|PubMed 22402829}. Cell membrane {ECO 0000305}; Multi- pass membrane protein {ECO 0000255}. # TCDB 1.H.1.1.13 the claudin tight junction (claudin1) family # TISSUE SPECIFICITY In the kidney, expressed in the proximal tubule and in the Henle's loop. In the distal convoluted tubule, not expressed in all tubules. Not detected in the collecting duct (at protein level). {ECO:0000269|PubMed 22402829}. # UCSC uc011acv human # eggNOG ENOG410IJK4 Eukaryota # eggNOG ENOG410YQQY LUCA BLAST swissprot:CLD17_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CLD17_HUMAN BioCyc ZFISH:ENSG00000156282-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000156282-MONOMER COXPRESdb 26285 http://coxpresdb.jp/data/gene/26285.shtml CleanEx HS_CLDN17 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CLDN17 DOI 10.1007/s00018-012-0949-x http://dx.doi.org/10.1007/s00018-012-0949-x DOI 10.1007/s00018-015-1987-y http://dx.doi.org/10.1007/s00018-015-1987-y DOI 10.1038/35012518 http://dx.doi.org/10.1038/35012518 DOI 10.1101/gr.1293003 http://dx.doi.org/10.1101/gr.1293003 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AJ250712 http://www.ebi.ac.uk/ena/data/view/AJ250712 EMBL AP001707 http://www.ebi.ac.uk/ena/data/view/AP001707 EMBL AY358094 http://www.ebi.ac.uk/ena/data/view/AY358094 EMBL BC101503 http://www.ebi.ac.uk/ena/data/view/BC101503 EMBL BC101505 http://www.ebi.ac.uk/ena/data/view/BC101505 Ensembl ENST00000286808 http://www.ensembl.org/id/ENST00000286808 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005923 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005923 GO_component GO:0034707 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034707 GO_function GO:0005198 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005198 GO_function GO:0005254 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005254 GO_function GO:0042802 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042802 GO_process GO:0016338 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016338 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0005198 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005198 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0007155 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007155 GeneCards CLDN17 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CLDN17 GeneID 26285 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=26285 GeneTree ENSGT00760000118928 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118928 HGNC HGNC:2038 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:2038 HOGENOM HOG000220937 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000220937&db=HOGENOM6 HOVERGEN HBG000643 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG000643&db=HOVERGEN HPA HPA045903 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA045903 InParanoid P56750 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P56750 InterPro IPR004031 http://www.ebi.ac.uk/interpro/entry/IPR004031 InterPro IPR006187 http://www.ebi.ac.uk/interpro/entry/IPR006187 InterPro IPR017974 http://www.ebi.ac.uk/interpro/entry/IPR017974 Jabion 26285 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=26285 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04516 http://www.genome.jp/dbget-bin/www_bget?ko04516 KEGG_Gene hsa:26285 http://www.genome.jp/dbget-bin/www_bget?hsa:26285 KEGG_Orthology KO:K06087 http://www.genome.jp/dbget-bin/www_bget?KO:K06087 KEGG_Pathway ko04514 http://www.genome.jp/kegg-bin/show_pathway?ko04514 KEGG_Pathway ko04530 http://www.genome.jp/kegg-bin/show_pathway?ko04530 KEGG_Pathway ko04670 http://www.genome.jp/kegg-bin/show_pathway?ko04670 KEGG_Pathway ko05160 http://www.genome.jp/kegg-bin/show_pathway?ko05160 MIM 617005 http://www.ncbi.nlm.nih.gov/omim/617005 OMA QIQCTGS http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=QIQCTGS OrthoDB EOG091G0MX2 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0MX2 PANTHER PTHR12002 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12002 PROSITE PS01346 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS01346 PSORT swissprot:CLD17_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CLD17_HUMAN PSORT-B swissprot:CLD17_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CLD17_HUMAN PSORT2 swissprot:CLD17_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CLD17_HUMAN Pfam PF00822 http://pfam.xfam.org/family/PF00822 PharmGKB PA26564 http://www.pharmgkb.org/do/serve?objId=PA26564&objCls=Gene Phobius swissprot:CLD17_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CLD17_HUMAN PhylomeDB P56750 http://phylomedb.org/?seqid=P56750 ProteinModelPortal P56750 http://www.proteinmodelportal.org/query/uniprot/P56750 PubMed 10830953 http://www.ncbi.nlm.nih.gov/pubmed/10830953 PubMed 12975309 http://www.ncbi.nlm.nih.gov/pubmed/12975309 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 22402829 http://www.ncbi.nlm.nih.gov/pubmed/22402829 PubMed 26194246 http://www.ncbi.nlm.nih.gov/pubmed/26194246 Reactome R-HSA-420029 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-420029 RefSeq NP_036263 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_036263 SMR P56750 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P56750 STRING 9606.ENSP00000286808 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000286808&targetmode=cogs TCDB 1.H.1.1.13 http://www.tcdb.org/search/result.php?tc=1.H.1.1.13 UCSC uc011acv http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc011acv&org=rat UniGene Hs.258589 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.258589 UniProtKB CLD17_HUMAN http://www.uniprot.org/uniprot/CLD17_HUMAN UniProtKB-AC P56750 http://www.uniprot.org/uniprot/P56750 charge swissprot:CLD17_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CLD17_HUMAN eggNOG ENOG410IJK4 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IJK4 eggNOG ENOG410YQQY http://eggnogapi.embl.de/nog_data/html/tree/ENOG410YQQY epestfind swissprot:CLD17_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CLD17_HUMAN garnier swissprot:CLD17_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CLD17_HUMAN helixturnhelix swissprot:CLD17_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CLD17_HUMAN hmoment swissprot:CLD17_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CLD17_HUMAN iep swissprot:CLD17_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CLD17_HUMAN inforesidue swissprot:CLD17_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CLD17_HUMAN neXtProt NX_P56750 http://www.nextprot.org/db/entry/NX_P56750 octanol swissprot:CLD17_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CLD17_HUMAN pepcoil swissprot:CLD17_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CLD17_HUMAN pepdigest swissprot:CLD17_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CLD17_HUMAN pepinfo swissprot:CLD17_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CLD17_HUMAN pepnet swissprot:CLD17_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CLD17_HUMAN pepstats swissprot:CLD17_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CLD17_HUMAN pepwheel swissprot:CLD17_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CLD17_HUMAN pepwindow swissprot:CLD17_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CLD17_HUMAN sigcleave swissprot:CLD17_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CLD17_HUMAN ## Database ID URL or Descriptions # AltName TOM20_HUMAN Mitochondrial 20 kDa outer membrane protein # AltName TOM20_HUMAN Outer mitochondrial membrane receptor Tom20 # BioGrid 115144 45 # ChiTaRS TOMM20 human # Ensembl ENST00000366607 ENSP00000355566; ENSG00000173726 # ExpressionAtlas Q15388 baseline and differential # FUNCTION TOM20_HUMAN Central component of the receptor complex responsible for the recognition and translocation of cytosolically synthesized mitochondrial preproteins. Together with TOM22 functions as the transit peptide receptor at the surface of the mitochondrion outer membrane and facilitates the movement of preproteins into the TOM40 translocation pore (By similarity). {ECO 0000250}. # GO_component GO:0005739 mitochondrion; IDA:HPA. # GO_component GO:0005741 mitochondrial outer membrane; IDA:UniProtKB. # GO_component GO:0005742 mitochondrial outer membrane translocase complex; NAS:UniProtKB. # GO_component GO:0031012 extracellular matrix; IDA:BHF-UCL. # GO_component GO:0031307 integral component of mitochondrial outer membrane; IBA:GO_Central. # GO_component GO:0044233 ER-mitochondrion membrane contact site; IDA:MGI. # GO_function GO:0015450 P-P-bond-hydrolysis-driven protein transmembrane transporter activity; IDA:HGNC. # GO_function GO:0030943 mitochondrion targeting sequence binding; IBA:GO_Central. # GO_function GO:0051082 unfolded protein binding; IDA:HGNC. # GO_process GO:0006626 protein targeting to mitochondrion; IDA:HGNC. # GO_process GO:0016031 tRNA import into mitochondrion; IBA:GO_Central. # GO_process GO:0016236 macroautophagy; TAS:Reactome. # GO_process GO:0030150 protein import into mitochondrial matrix; IBA:GO_Central. # GO_process GO:0070096 mitochondrial outer membrane translocase complex assembly; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005739 mitochondrion # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0008565 protein transporter activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0051082 unfolded protein binding # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006605 protein targeting # GOslim_process GO:0006810 transport # GOslim_process GO:0006914 autophagy # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.20.960.10 -; 1. # Genevisible Q15388 HS # HGNC HGNC:20947 TOMM20 # IntAct Q15388 28 # InterPro IPR002056 MAS20 # InterPro IPR022422 MAS20_rcpt_metazoan # InterPro IPR023392 Tom20_dom # MIM 601848 gene # Organism TOM20_HUMAN Homo sapiens (Human) # PANTHER PTHR12430 PTHR12430 # PDB 4APO X-ray; 1.90 A; D/E=140-145 # PIR S68215 S68215 # PIRSF PIRSF037707 MAS20_rcpt # PRINTS PR00351 OM20RECEPTOR # PRINTS PR01989 EUOM20RECPTR # PTM TOM20_HUMAN Ubiquitinated by PARK2 during mitophagy, leading to its degradation and enhancement of mitophagy. Deubiquitinated by USP30. {ECO 0000269|PubMed 24896179, ECO 0000269|PubMed 25621951}. # Pfam PF02064 MAS20 # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-1268020 Mitochondrial protein import # Reactome R-HSA-5205685 Pink/Parkin Mediated Mitophagy # Reactome R-HSA-5689880 Ub-specific processing proteases # RecName TOM20_HUMAN Mitochondrial import receptor subunit TOM20 homolog # RefSeq NP_055580 NM_014765.2 # SIMILARITY Belongs to the Tom20 family. {ECO 0000305}. # SUBCELLULAR LOCATION TOM20_HUMAN Mitochondrion outer membrane {ECO 0000269|PubMed 25764979, ECO 0000269|PubMed 25997101}; Single-pass membrane protein {ECO 0000255}. # SUBUNIT TOM20_HUMAN Forms part of the preprotein translocase complex of the outer mitochondrial membrane (TOM complex) which consists of at least 7 different proteins (TOMM5, TOMM6, TOMM7, TOMM20, TOMM22, TOMM40 and TOMM70). Interacts with TOM22. Interacts with APEX1. {ECO 0000269|PubMed 18331822, ECO 0000269|PubMed 20231292}. # SUPFAM SSF47157 SSF47157 # TIGRFAMs TIGR00985 3a0801s04tom # UCSC uc001hwl human # eggNOG ENOG4111NAH LUCA # eggNOG KOG4056 Eukaryota BLAST swissprot:TOM20_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:TOM20_HUMAN BioCyc ZFISH:ENSG00000173726-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000173726-MONOMER COXPRESdb 9804 http://coxpresdb.jp/data/gene/9804.shtml CleanEx HS_TOMM20 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_TOMM20 DIP DIP-46735N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-46735N DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1016/0014-5793(95)01010-C http://dx.doi.org/10.1016/0014-5793(95)01010-C DOI 10.1016/0014-5793(95)01229-8 http://dx.doi.org/10.1016/0014-5793(95)01229-8 DOI 10.1016/S0378-1119(99)00409-6 http://dx.doi.org/10.1016/S0378-1119(99)00409-6 DOI 10.1016/j.bbamcr.2015.03.004 http://dx.doi.org/10.1016/j.bbamcr.2015.03.004 DOI 10.1016/j.bbrc.2008.02.150 http://dx.doi.org/10.1016/j.bbrc.2008.02.150 DOI 10.1016/j.cell.2006.09.026 http://dx.doi.org/10.1016/j.cell.2006.09.026 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1016/j.molcel.2008.07.007 http://dx.doi.org/10.1016/j.molcel.2008.07.007 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1038/nature13418 http://dx.doi.org/10.1038/nature13418 DOI 10.1038/ncb3097 http://dx.doi.org/10.1038/ncb3097 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1074/jbc.M109.069591 http://dx.doi.org/10.1074/jbc.M109.069591 DOI 10.1093/dnares/1.1.27 http://dx.doi.org/10.1093/dnares/1.1.27 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/scisignal.2000007 http://dx.doi.org/10.1126/scisignal.2000007 DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 DOI 10.1126/scisignal.2001570 http://dx.doi.org/10.1126/scisignal.2001570 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DOI 10.7554/eLife.06265 http://dx.doi.org/10.7554/eLife.06265 EMBL AF126958 http://www.ebi.ac.uk/ena/data/view/AF126958 EMBL AF126959 http://www.ebi.ac.uk/ena/data/view/AF126959 EMBL AF126960 http://www.ebi.ac.uk/ena/data/view/AF126960 EMBL AF126961 http://www.ebi.ac.uk/ena/data/view/AF126961 EMBL AF126962 http://www.ebi.ac.uk/ena/data/view/AF126962 EMBL AK289810 http://www.ebi.ac.uk/ena/data/view/AK289810 EMBL AL732292 http://www.ebi.ac.uk/ena/data/view/AL732292 EMBL BC000882 http://www.ebi.ac.uk/ena/data/view/BC000882 EMBL BC066335 http://www.ebi.ac.uk/ena/data/view/BC066335 EMBL BC071994 http://www.ebi.ac.uk/ena/data/view/BC071994 EMBL BC100286 http://www.ebi.ac.uk/ena/data/view/BC100286 EMBL BC107851 http://www.ebi.ac.uk/ena/data/view/BC107851 EMBL CH471098 http://www.ebi.ac.uk/ena/data/view/CH471098 EMBL CR456718 http://www.ebi.ac.uk/ena/data/view/CR456718 EMBL D13641 http://www.ebi.ac.uk/ena/data/view/D13641 Ensembl ENST00000366607 http://www.ensembl.org/id/ENST00000366607 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005741 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005741 GO_component GO:0005742 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005742 GO_component GO:0031012 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031012 GO_component GO:0031307 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031307 GO_component GO:0044233 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044233 GO_function GO:0015450 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015450 GO_function GO:0030943 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030943 GO_function GO:0051082 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051082 GO_process GO:0006626 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006626 GO_process GO:0016031 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016031 GO_process GO:0016236 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016236 GO_process GO:0030150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030150 GO_process GO:0070096 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070096 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0051082 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051082 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006605 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006605 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006914 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006914 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.20.960.10 http://www.cathdb.info/version/latest/superfamily/1.20.960.10 GeneCards TOMM20 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=TOMM20 GeneID 9804 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=9804 GeneTree ENSGT00390000011698 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000011698 HGNC HGNC:20947 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:20947 HOGENOM HOG000006671 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000006671&db=HOGENOM6 HOVERGEN HBG057315 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG057315&db=HOVERGEN HPA CAB005585 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB005585 HPA HPA011562 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA011562 InParanoid Q15388 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q15388 IntAct Q15388 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q15388* InterPro IPR002056 http://www.ebi.ac.uk/interpro/entry/IPR002056 InterPro IPR022422 http://www.ebi.ac.uk/interpro/entry/IPR022422 InterPro IPR023392 http://www.ebi.ac.uk/interpro/entry/IPR023392 Jabion 9804 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=9804 KEGG_Gene hsa:9804 http://www.genome.jp/dbget-bin/www_bget?hsa:9804 MIM 601848 http://www.ncbi.nlm.nih.gov/omim/601848 MINT MINT-1403841 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1403841 OMA AMLIIKM http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=AMLIIKM OrthoDB EOG091G0Z80 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0Z80 PANTHER PTHR12430 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12430 PDB 4APO http://www.ebi.ac.uk/pdbe-srv/view/entry/4APO PDBsum 4APO http://www.ebi.ac.uk/pdbsum/4APO PRINTS PR00351 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00351 PRINTS PR01989 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01989 PSORT swissprot:TOM20_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:TOM20_HUMAN PSORT-B swissprot:TOM20_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:TOM20_HUMAN PSORT2 swissprot:TOM20_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:TOM20_HUMAN Pfam PF02064 http://pfam.xfam.org/family/PF02064 PharmGKB PA134964372 http://www.pharmgkb.org/do/serve?objId=PA134964372&objCls=Gene Phobius swissprot:TOM20_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:TOM20_HUMAN PhylomeDB Q15388 http://phylomedb.org/?seqid=Q15388 ProteinModelPortal Q15388 http://www.proteinmodelportal.org/query/uniprot/Q15388 PubMed 10548729 http://www.ncbi.nlm.nih.gov/pubmed/10548729 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 17081983 http://www.ncbi.nlm.nih.gov/pubmed/17081983 PubMed 18331822 http://www.ncbi.nlm.nih.gov/pubmed/18331822 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 18691976 http://www.ncbi.nlm.nih.gov/pubmed/18691976 PubMed 19690332 http://www.ncbi.nlm.nih.gov/pubmed/19690332 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 20231292 http://www.ncbi.nlm.nih.gov/pubmed/20231292 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 21406692 http://www.ncbi.nlm.nih.gov/pubmed/21406692 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 24896179 http://www.ncbi.nlm.nih.gov/pubmed/24896179 PubMed 25621951 http://www.ncbi.nlm.nih.gov/pubmed/25621951 PubMed 25764979 http://www.ncbi.nlm.nih.gov/pubmed/25764979 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 25997101 http://www.ncbi.nlm.nih.gov/pubmed/25997101 PubMed 7498524 http://www.ncbi.nlm.nih.gov/pubmed/7498524 PubMed 7584026 http://www.ncbi.nlm.nih.gov/pubmed/7584026 PubMed 7589431 http://www.ncbi.nlm.nih.gov/pubmed/7589431 Reactome R-HSA-1268020 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1268020 Reactome R-HSA-5205685 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5205685 Reactome R-HSA-5689880 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5689880 RefSeq NP_055580 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_055580 SMR Q15388 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q15388 STRING 9606.ENSP00000355566 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000355566&targetmode=cogs SUPFAM SSF47157 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF47157 TIGRFAMs TIGR00985 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00985 UCSC uc001hwl http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001hwl&org=rat UniGene Hs.533192 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.533192 UniProtKB TOM20_HUMAN http://www.uniprot.org/uniprot/TOM20_HUMAN UniProtKB-AC Q15388 http://www.uniprot.org/uniprot/Q15388 charge swissprot:TOM20_HUMAN http://rest.g-language.org/emboss/charge/swissprot:TOM20_HUMAN eggNOG ENOG4111NAH http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111NAH eggNOG KOG4056 http://eggnogapi.embl.de/nog_data/html/tree/KOG4056 epestfind swissprot:TOM20_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:TOM20_HUMAN garnier swissprot:TOM20_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:TOM20_HUMAN helixturnhelix swissprot:TOM20_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:TOM20_HUMAN hmoment swissprot:TOM20_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:TOM20_HUMAN iep swissprot:TOM20_HUMAN http://rest.g-language.org/emboss/iep/swissprot:TOM20_HUMAN inforesidue swissprot:TOM20_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:TOM20_HUMAN neXtProt NX_Q15388 http://www.nextprot.org/db/entry/NX_Q15388 octanol swissprot:TOM20_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:TOM20_HUMAN pepcoil swissprot:TOM20_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:TOM20_HUMAN pepdigest swissprot:TOM20_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:TOM20_HUMAN pepinfo swissprot:TOM20_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:TOM20_HUMAN pepnet swissprot:TOM20_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:TOM20_HUMAN pepstats swissprot:TOM20_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:TOM20_HUMAN pepwheel swissprot:TOM20_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:TOM20_HUMAN pepwindow swissprot:TOM20_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:TOM20_HUMAN sigcleave swissprot:TOM20_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:TOM20_HUMAN ## Database ID URL or Descriptions # AltName KCAB3_HUMAN K(+) channel subunit beta-3 # AltName KCAB3_HUMAN Kv-beta-3 # BioGrid 114631 7 # CDD cd06660 Aldo_ket_red # DOMAIN KCAB3_HUMAN Alteration of functional properties of alpha subunit is mediated through N-terminal domain of beta subunit. {ECO 0000305}. # Ensembl ENST00000303790 ENSP00000302719; ENSG00000170049 # ExpressionAtlas O43448 baseline and differential # FUNCTION KCAB3_HUMAN Accessory potassium channel protein which modulates the activity of the pore-forming alpha subunit. Alters the functional properties of Kv1.5. {ECO 0000269|PubMed 9857044}. # GO_component GO:0005737 cytoplasm; IEA:UniProtKB-SubCell. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0016021 integral component of membrane; IEA:InterPro. # GO_function GO:0005249 voltage-gated potassium channel activity; IEA:InterPro. # GO_function GO:0015459 potassium channel regulator activity; TAS:ProtInc. # GO_process GO:0006813 potassium ion transport; TAS:ProtInc. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # Gene3D 3.20.20.100 -; 1. # Genevisible O43448 HS # HGNC HGNC:6230 KCNAB3 # InterPro IPR001395 Aldo/ket_red/Kv-b # InterPro IPR005399 K_chnl_volt-dep_bsu_KCNAB-rel # InterPro IPR005402 K_chnl_volt-dep_bsu_KCNAB3 # InterPro IPR005983 K_chnl_volt-dep_bsu_KCNAB # InterPro IPR023210 NADP_OxRdtase_dom # KEGG_Brite ko04040 Ion channels # MIM 604111 gene # Organism KCAB3_HUMAN Homo sapiens (Human) # PANTHER PTHR11732 PTHR11732 # PRINTS PR01577 KCNABCHANNEL # PRINTS PR01580 KCNAB3CHANEL # Pfam PF00248 Aldo_ket_red # Proteomes UP000005640 Chromosome 17 # Reactome R-HSA-1296072 Voltage gated Potassium channels # RecName KCAB3_HUMAN Voltage-gated potassium channel subunit beta-3 # RefSeq NP_004723 NM_004732.3 # SIMILARITY Belongs to the shaker potassium channel beta subunit family. {ECO 0000305}. # SUBCELLULAR LOCATION KCAB3_HUMAN Cytoplasm {ECO 0000305}. # SUBUNIT KCAB3_HUMAN Forms heteromultimeric complex with alpha subunits. # SUPFAM SSF51430 SSF51430 # TIGRFAMs TIGR01293 Kv_beta # TISSUE SPECIFICITY Brain specific. Most prominent expression in cerebellum. Weaker signals detected in cortex, occipital lobe, frontal lobe and temporal lobe. Not detected in spinal cord, heart, lung, liver, kidney, pancreas, placenta and skeletal muscle. {ECO:0000269|PubMed 9857044}. # UCSC uc002gjm human # eggNOG COG0667 LUCA # eggNOG KOG1575 Eukaryota BLAST swissprot:KCAB3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCAB3_HUMAN BioCyc ZFISH:ENSG00000170049-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000170049-MONOMER COXPRESdb 9196 http://coxpresdb.jp/data/gene/9196.shtml CleanEx HS_KCNAB3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNAB3 DOI 10.1074/jbc.273.52.35095 http://dx.doi.org/10.1074/jbc.273.52.35095 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AF016411 http://www.ebi.ac.uk/ena/data/view/AF016411 EMBL BC096232 http://www.ebi.ac.uk/ena/data/view/BC096232 EMBL BC096234 http://www.ebi.ac.uk/ena/data/view/BC096234 EMBL BC099634 http://www.ebi.ac.uk/ena/data/view/BC099634 Ensembl ENST00000303790 http://www.ensembl.org/id/ENST00000303790 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005249 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005249 GO_function GO:0015459 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015459 GO_process GO:0006813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006813 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 Gene3D 3.20.20.100 http://www.cathdb.info/version/latest/superfamily/3.20.20.100 GeneCards KCNAB3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNAB3 GeneID 9196 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=9196 GeneTree ENSGT00550000074567 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074567 H-InvDB HIX0173736 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0173736 HGNC HGNC:6230 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6230 HOGENOM HOG000250283 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000250283&db=HOGENOM6 HOVERGEN HBG052216 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052216&db=HOVERGEN InParanoid O43448 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O43448 IntAct O43448 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O43448* InterPro IPR001395 http://www.ebi.ac.uk/interpro/entry/IPR001395 InterPro IPR005399 http://www.ebi.ac.uk/interpro/entry/IPR005399 InterPro IPR005402 http://www.ebi.ac.uk/interpro/entry/IPR005402 InterPro IPR005983 http://www.ebi.ac.uk/interpro/entry/IPR005983 InterPro IPR023210 http://www.ebi.ac.uk/interpro/entry/IPR023210 Jabion 9196 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=9196 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:9196 http://www.genome.jp/dbget-bin/www_bget?hsa:9196 KEGG_Orthology KO:K04884 http://www.genome.jp/dbget-bin/www_bget?KO:K04884 MIM 604111 http://www.ncbi.nlm.nih.gov/omim/604111 OMA WHSFGHV http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=WHSFGHV OrthoDB EOG091G0KDN http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0KDN PANTHER PTHR11732 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11732 PRINTS PR01577 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01577 PRINTS PR01580 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01580 PSORT swissprot:KCAB3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCAB3_HUMAN PSORT-B swissprot:KCAB3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCAB3_HUMAN PSORT2 swissprot:KCAB3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCAB3_HUMAN Pfam PF00248 http://pfam.xfam.org/family/PF00248 PharmGKB PA30024 http://www.pharmgkb.org/do/serve?objId=PA30024&objCls=Gene Phobius swissprot:KCAB3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCAB3_HUMAN PhylomeDB O43448 http://phylomedb.org/?seqid=O43448 ProteinModelPortal O43448 http://www.proteinmodelportal.org/query/uniprot/O43448 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 9857044 http://www.ncbi.nlm.nih.gov/pubmed/9857044 Reactome R-HSA-1296072 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1296072 RefSeq NP_004723 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004723 SMR O43448 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=O43448 STRING 9606.ENSP00000302719 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000302719&targetmode=cogs SUPFAM SSF51430 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF51430 TIGRFAMs TIGR01293 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01293 UCSC uc002gjm http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002gjm&org=rat UniGene Hs.435074 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.435074 UniProtKB KCAB3_HUMAN http://www.uniprot.org/uniprot/KCAB3_HUMAN UniProtKB-AC O43448 http://www.uniprot.org/uniprot/O43448 charge swissprot:KCAB3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCAB3_HUMAN eggNOG COG0667 http://eggnogapi.embl.de/nog_data/html/tree/COG0667 eggNOG KOG1575 http://eggnogapi.embl.de/nog_data/html/tree/KOG1575 epestfind swissprot:KCAB3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCAB3_HUMAN garnier swissprot:KCAB3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCAB3_HUMAN helixturnhelix swissprot:KCAB3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCAB3_HUMAN hmoment swissprot:KCAB3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCAB3_HUMAN iep swissprot:KCAB3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCAB3_HUMAN inforesidue swissprot:KCAB3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCAB3_HUMAN neXtProt NX_O43448 http://www.nextprot.org/db/entry/NX_O43448 octanol swissprot:KCAB3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCAB3_HUMAN pepcoil swissprot:KCAB3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCAB3_HUMAN pepdigest swissprot:KCAB3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCAB3_HUMAN pepinfo swissprot:KCAB3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCAB3_HUMAN pepnet swissprot:KCAB3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCAB3_HUMAN pepstats swissprot:KCAB3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCAB3_HUMAN pepwheel swissprot:KCAB3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCAB3_HUMAN pepwindow swissprot:KCAB3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCAB3_HUMAN sigcleave swissprot:KCAB3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCAB3_HUMAN ## Database ID URL or Descriptions # AltName S26A3_HUMAN Down-regulated in adenoma # AltName S26A3_HUMAN Solute carrier family 26 member 3 # DEVELOPMENTAL STAGE S26A3_HUMAN Expression is significantly decreased in adenomas (polyps) and adenocarcinomas of the colon. # DISEASE S26A3_HUMAN Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM 214700] A disease characterized by voluminous watery stools containing an excess of chloride. The children with this disease are often premature. {ECO 0000269|PubMed 11524734, ECO 0000269|PubMed 19861545, ECO 0000269|PubMed 21150650, ECO 0000269|PubMed 21394828, ECO 0000269|PubMed 8896562, ECO 0000269|PubMed 9554749, ECO 0000269|PubMed 9718329}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000340010 ENSP00000345873; ENSG00000091138 # ExpressionAtlas P40879 baseline and differential # FUNCTION S26A3_HUMAN Chloride/bicarbonate exchanger. Mediates the efficient absorption of chloride ions in the colon, participating in fluid homeostasis. Plays a role in the chloride and bicarbonate homeostasis during sperm epididymal maturation and capacitation. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0016020 membrane; ISS:UniProtKB. # GO_component GO:0016324 apical plasma membrane; IEA:UniProtKB-SubCell. # GO_component GO:0031526 brush border membrane; IEA:Ensembl. # GO_component GO:0097225 sperm midpiece; ISS:UniProtKB. # GO_function GO:0003700 transcription factor activity, sequence-specific DNA binding; TAS:ProtInc. # GO_function GO:0003712 transcription cofactor activity; TAS:ProtInc. # GO_function GO:0005215 transporter activity; TAS:ProtInc. # GO_function GO:0005254 chloride channel activity; IBA:GO_Central. # GO_function GO:0005452 inorganic anion exchanger activity; TAS:Reactome. # GO_function GO:0008271 secondary active sulfate transmembrane transporter activity; IEA:InterPro. # GO_function GO:0015106 bicarbonate transmembrane transporter activity; ISS:UniProtKB. # GO_function GO:0015108 chloride transmembrane transporter activity; ISS:UniProtKB. # GO_function GO:0015116 sulfate transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0019531 oxalate transmembrane transporter activity; IBA:GO_Central. # GO_function S26A3_HUMAN GO 0015301 anion anion antiporter activity; IBA GO_Central. # GO_process GO:0006811 ion transport; TAS:Reactome. # GO_process GO:0006820 anion transport; TAS:ProtInc. # GO_process GO:0007588 excretion; TAS:ProtInc. # GO_process GO:0015701 bicarbonate transport; IBA:GO_Central. # GO_process GO:0042391 regulation of membrane potential; IBA:GO_Central. # GO_process GO:0048240 sperm capacitation; ISS:UniProtKB. # GO_process GO:0051453 regulation of intracellular pH; IBA:GO_Central. # GO_process GO:0051454 intracellular pH elevation; ISS:UniProtKB. # GO_process GO:0060081 membrane hyperpolarization; ISS:UniProtKB. # GO_process GO:0071320 cellular response to cAMP; ISS:UniProtKB. # GO_process GO:1902476 chloride transmembrane transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0000988 transcription factor activity, protein binding # GOslim_function GO:0001071 nucleic acid binding transcription factor activity # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0021700 developmental maturation # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 3.30.750.24 -; 2. # Genevisible P40879 HS # HGNC HGNC:3018 SLC26A3 # INTERACTION S26A3_HUMAN Q15599 SLC9A3R2; NbExp=5; IntAct=EBI-8542350, EBI-1149760; # IntAct P40879 2 # InterPro IPR001902 SLC26A/SulP_fam # InterPro IPR002645 STAS_dom # InterPro IPR011547 SLC26A/SulP_dom # InterPro IPR018045 S04_transporter_CS # InterPro IPR030321 SLC26A3 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02001 Solute carrier family # KEGG_Disease H01174 [Gastrointestinal disease] Congenital tufting enteropathy (DIAR5) # KEGG_Pathway ko04972 Pancreatic secretion # KEGG_Pathway ko04978 Mineral absorption # MIM 126650 gene # MIM 214700 phenotype # Organism S26A3_HUMAN Homo sapiens (Human) # Orphanet 53689 Congenital chloride diarrhea # PANTHER PTHR11814 PTHR11814; 2 # PANTHER PTHR11814:SF19 PTHR11814:SF19; 2 # PIR A47456 A47456 # PROSITE PS01130 SLC26A # PROSITE PS50801 STAS # PTM S26A3_HUMAN N-glycosylation is required for efficient cell surface expression, and protection from proteolytic degradation. {ECO 0000269|PubMed 22159084}. # Pfam PF00916 Sulfate_transp # Pfam PF01740 STAS # Proteomes UP000005640 Chromosome 7 # Reactome R-HSA-427601 Multifunctional anion exchangers # RecName S26A3_HUMAN Chloride anion exchanger # RefSeq NP_000102 NM_000111.2 # RefSeq XP_011514169 XM_011515867.2 # SIMILARITY Belongs to the SLC26A/SulP transporter (TC 2.A.53) family. {ECO 0000305}. # SIMILARITY Contains 1 STAS domain. {ECO:0000255|PROSITE- ProRule PRU00198}. # SUBCELLULAR LOCATION S26A3_HUMAN Apical cell membrane {ECO 0000269|PubMed 22159084}; Multi-pass membrane protein {ECO 0000269|PubMed 22159084}. Membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. Note=Localized in sperm membranes. Midpiece of sperm tail. Colocalizes with CFTR at the midpiece of sperm tail (By similarity). {ECO 0000250}. # SUBUNIT Interacts with CFTR, SLC26A6 and SLC9A3R1 (By similarity). Interacts with PDZK1. {ECO:0000250, ECO 0000269|PubMed:15766278}. # SUPFAM SSF52091 SSF52091; 2 # TCDB 2.A.53.2.18 the sulfate permease (sulp) family # TIGRFAMs TIGR00815 sulP # UCSC uc003ver human # eggNOG COG0659 LUCA # eggNOG KOG0236 Eukaryota BLAST swissprot:S26A3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S26A3_HUMAN BioCyc ZFISH:ENSG00000091138-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000091138-MONOMER COXPRESdb 1811 http://coxpresdb.jp/data/gene/1811.shtml CleanEx HS_SLC26A3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC26A3 DOI 10.1002/(SICI)1098-1004(1998)11:4<321::AID-HUMU10>3.0.CO http://dx.doi.org/10.1002/(SICI)1098-1004(1998)11:4<321::AID-HUMU10>3.0.CO DOI 10.1002/humu.1179 http://dx.doi.org/10.1002/humu.1179 DOI 10.1002/humu.21498 http://dx.doi.org/10.1002/humu.21498 DOI 10.1016/0968-0004(94)90168-6 http://dx.doi.org/10.1016/0968-0004(94)90168-6 DOI 10.1021/bi048828b http://dx.doi.org/10.1021/bi048828b DOI 10.1038/ng1196-316 http://dx.doi.org/10.1038/ng1196-316 DOI 10.1073/pnas.0910672106 http://dx.doi.org/10.1073/pnas.0910672106 DOI 10.1073/pnas.90.9.4166 http://dx.doi.org/10.1073/pnas.90.9.4166 DOI 10.1086/301998 http://dx.doi.org/10.1086/301998 DOI 10.1097/MPG.0b013e3181f28d1a http://dx.doi.org/10.1097/MPG.0b013e3181f28d1a DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1152/ajpcell.00165.2011 http://dx.doi.org/10.1152/ajpcell.00165.2011 EMBL BC025671 http://www.ebi.ac.uk/ena/data/view/BC025671 EMBL L02785 http://www.ebi.ac.uk/ena/data/view/L02785 Ensembl ENST00000340010 http://www.ensembl.org/id/ENST00000340010 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:0031526 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031526 GO_component GO:0097225 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097225 GO_function GO:0003700 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003700 GO_function GO:0003712 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003712 GO_function GO:0005215 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005215 GO_function GO:0005254 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005254 GO_function GO:0005452 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005452 GO_function GO:0008271 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008271 GO_function GO:0015106 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015106 GO_function GO:0015108 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015108 GO_function GO:0015116 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015116 GO_function GO:0015301 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015301 GO_function GO:0019531 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019531 GO_process GO:0006811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006811 GO_process GO:0006820 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006820 GO_process GO:0007588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007588 GO_process GO:0015701 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015701 GO_process GO:0042391 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042391 GO_process GO:0048240 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048240 GO_process GO:0051453 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051453 GO_process GO:0051454 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051454 GO_process GO:0060081 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060081 GO_process GO:0071320 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071320 GO_process GO:1902476 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902476 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0000988 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000988 GOslim_function GO:0001071 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001071 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0021700 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021700 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 3.30.750.24 http://www.cathdb.info/version/latest/superfamily/3.30.750.24 GeneCards SLC26A3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC26A3 GeneID 1811 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=1811 GeneTree ENSGT00760000119026 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119026 HGNC HGNC:3018 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:3018 HOGENOM HOG000006546 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000006546&db=HOGENOM6 HOVERGEN HBG000639 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG000639&db=HOVERGEN HPA HPA036055 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA036055 InParanoid P40879 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P40879 IntAct P40879 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P40879* InterPro IPR001902 http://www.ebi.ac.uk/interpro/entry/IPR001902 InterPro IPR002645 http://www.ebi.ac.uk/interpro/entry/IPR002645 InterPro IPR011547 http://www.ebi.ac.uk/interpro/entry/IPR011547 InterPro IPR018045 http://www.ebi.ac.uk/interpro/entry/IPR018045 InterPro IPR030321 http://www.ebi.ac.uk/interpro/entry/IPR030321 Jabion 1811 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=1811 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Disease H01174 http://www.genome.jp/dbget-bin/www_bget?H01174 KEGG_Gene hsa:1811 http://www.genome.jp/dbget-bin/www_bget?hsa:1811 KEGG_Orthology KO:K14078 http://www.genome.jp/dbget-bin/www_bget?KO:K14078 KEGG_Pathway ko04972 http://www.genome.jp/kegg-bin/show_pathway?ko04972 KEGG_Pathway ko04978 http://www.genome.jp/kegg-bin/show_pathway?ko04978 MIM 126650 http://www.ncbi.nlm.nih.gov/omim/126650 MIM 214700 http://www.ncbi.nlm.nih.gov/omim/214700 MINT MINT-1787198 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1787198 OMA QETIGDC http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=QETIGDC Orphanet 53689 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=53689 OrthoDB EOG091G07RT http://cegg.unige.ch/orthodb/results?searchtext=EOG091G07RT PANTHER PTHR11814 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11814 PANTHER PTHR11814:SF19 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11814:SF19 PROSITE PS01130 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS01130 PROSITE PS50801 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50801 PSORT swissprot:S26A3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S26A3_HUMAN PSORT-B swissprot:S26A3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S26A3_HUMAN PSORT2 swissprot:S26A3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S26A3_HUMAN Pfam PF00916 http://pfam.xfam.org/family/PF00916 Pfam PF01740 http://pfam.xfam.org/family/PF01740 PharmGKB PA35044 http://www.pharmgkb.org/do/serve?objId=PA35044&objCls=Gene Phobius swissprot:S26A3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S26A3_HUMAN PhylomeDB P40879 http://phylomedb.org/?seqid=P40879 ProteinModelPortal P40879 http://www.proteinmodelportal.org/query/uniprot/P40879 PubMed 11524734 http://www.ncbi.nlm.nih.gov/pubmed/11524734 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15766278 http://www.ncbi.nlm.nih.gov/pubmed/15766278 PubMed 19861545 http://www.ncbi.nlm.nih.gov/pubmed/19861545 PubMed 21150650 http://www.ncbi.nlm.nih.gov/pubmed/21150650 PubMed 21394828 http://www.ncbi.nlm.nih.gov/pubmed/21394828 PubMed 22159084 http://www.ncbi.nlm.nih.gov/pubmed/22159084 PubMed 7683425 http://www.ncbi.nlm.nih.gov/pubmed/7683425 PubMed 8140616 http://www.ncbi.nlm.nih.gov/pubmed/8140616 PubMed 8896562 http://www.ncbi.nlm.nih.gov/pubmed/8896562 PubMed 9554749 http://www.ncbi.nlm.nih.gov/pubmed/9554749 PubMed 9718329 http://www.ncbi.nlm.nih.gov/pubmed/9718329 Reactome R-HSA-427601 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-427601 RefSeq NP_000102 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000102 RefSeq XP_011514169 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011514169 STRING 9606.ENSP00000345873 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000345873&targetmode=cogs SUPFAM SSF52091 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52091 TCDB 2.A.53.2.18 http://www.tcdb.org/search/result.php?tc=2.A.53.2.18 TIGRFAMs TIGR00815 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00815 UCSC uc003ver http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003ver&org=rat UniGene Hs.1650 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.1650 UniProtKB S26A3_HUMAN http://www.uniprot.org/uniprot/S26A3_HUMAN UniProtKB-AC P40879 http://www.uniprot.org/uniprot/P40879 charge swissprot:S26A3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S26A3_HUMAN eggNOG COG0659 http://eggnogapi.embl.de/nog_data/html/tree/COG0659 eggNOG KOG0236 http://eggnogapi.embl.de/nog_data/html/tree/KOG0236 epestfind swissprot:S26A3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S26A3_HUMAN garnier swissprot:S26A3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S26A3_HUMAN helixturnhelix swissprot:S26A3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S26A3_HUMAN hmoment swissprot:S26A3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S26A3_HUMAN iep swissprot:S26A3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S26A3_HUMAN inforesidue swissprot:S26A3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S26A3_HUMAN neXtProt NX_P40879 http://www.nextprot.org/db/entry/NX_P40879 octanol swissprot:S26A3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S26A3_HUMAN pepcoil swissprot:S26A3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S26A3_HUMAN pepdigest swissprot:S26A3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S26A3_HUMAN pepinfo swissprot:S26A3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S26A3_HUMAN pepnet swissprot:S26A3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S26A3_HUMAN pepstats swissprot:S26A3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S26A3_HUMAN pepwheel swissprot:S26A3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S26A3_HUMAN pepwindow swissprot:S26A3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S26A3_HUMAN sigcleave swissprot:S26A3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S26A3_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S12A9_HUMAN Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q9BXP2-1; Sequence=Displayed; Name=2; IsoId=Q9BXP2-2; Sequence=VSP_033192, VSP_033193, VSP_033194; Note=No experimental confirmation available.; Name=3; IsoId=Q9BXP2-3; Sequence=VSP_033193, VSP_033194; Note=No experimental confirmation available.; Name=4; IsoId=Q9BXP2-4; Sequence=VSP_045591, VSP_045592; Note=No experimental confirmation available.; # AltName S12A9_HUMAN Cation-chloride cotransporter 6 # AltName S12A9_HUMAN Cation-chloride cotransporter-interacting protein 1 # AltName S12A9_HUMAN Potassium-chloride transporter 9 # AltName S12A9_HUMAN WO3.3 # BioGrid 121311 20 # CCDS CCDS5707 -. [Q9BXP2-1] # CCDS CCDS59068 -. [Q9BXP2-4] # CCDS CCDS59069 -. [Q9BXP2-2] # ChiTaRS SLC12A9 human # Ensembl ENST00000354161 ENSP00000275730; ENSG00000146828. [Q9BXP2-1] # Ensembl ENST00000415287 ENSP00000413796; ENSG00000146828. [Q9BXP2-2] # Ensembl ENST00000540482 ENSP00000443702; ENSG00000146828. [Q9BXP2-4] # ExpressionAtlas Q9BXP2 baseline and differential # FUNCTION S12A9_HUMAN May be an inhibitor of SLC12A1. Seems to correspond to a subunit of a multimeric transport system and thus, additional subunits may be required for its function. {ECO 0000269|PubMed 10871601}. # GO_component GO:0005886 plasma membrane; IEA:UniProtKB-SubCell. # GO_component GO:0016021 integral component of membrane; TAS:ProtInc. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0022820 potassium ion symporter activity; IBA:GO_Central. # GO_function S12A9_HUMAN GO 0015377 cation chloride symporter activity; TAS ProtInc. # GO_function S12A9_HUMAN GO 0015379 potassium chloride symporter activity; IBA GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0022857 transmembrane transporter activity # Genevisible Q9BXP2 HS # HGNC HGNC:17435 SLC12A9 # IntAct Q9BXP2 2 # InterPro IPR004841 AA-permease/SLC12A_dom # InterPro IPR018491 SLC12_C # InterPro IPR030345 SLC12A9 # KEGG_Brite ko02001 Solute carrier family # MIM 616861 gene # Organism S12A9_HUMAN Homo sapiens (Human) # PANTHER PTHR11827:SF52 PTHR11827:SF52; 2 # Pfam PF00324 AA_permease # Pfam PF03522 SLC12 # Proteomes UP000005640 Chromosome 7 # RecName S12A9_HUMAN Solute carrier family 12 member 9 # RefSeq NP_001254741 NM_001267812.1. [Q9BXP2-4] # RefSeq NP_001254743 NM_001267814.1. [Q9BXP2-2] # RefSeq NP_064631 NM_020246.3. [Q9BXP2-1] # SIMILARITY Belongs to the SLC12A transporter family. {ECO 0000305}. # SUBCELLULAR LOCATION S12A9_HUMAN Cell membrane {ECO 0000269|PubMed 10871601}; Multi-pass membrane protein {ECO 0000269|PubMed 10871601}. # SUBUNIT Interacts with SLC12A1. {ECO:0000269|PubMed 10871601}. # TCDB 2.A.30.3 the cation-chloride cotransporter (ccc) family # TISSUE SPECIFICITY S12A9_HUMAN Highly expressed in placenta, brain and kidney. Lower expression in lung, liver and heart. # UCSC uc003uwp human. [Q9BXP2-1] # eggNOG COG0531 LUCA # eggNOG KOG1288 Eukaryota BLAST swissprot:S12A9_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S12A9_HUMAN COXPRESdb 56996 http://coxpresdb.jp/data/gene/56996.shtml CleanEx HS_SLC12A9 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC12A9 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature01782 http://dx.doi.org/10.1038/nature01782 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.M000108200 http://dx.doi.org/10.1074/jbc.M000108200 DOI 10.1093/nar/29.6.1352 http://dx.doi.org/10.1093/nar/29.6.1352 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AB033284 http://www.ebi.ac.uk/ena/data/view/AB033284 EMBL AC011895 http://www.ebi.ac.uk/ena/data/view/AC011895 EMBL AF284422 http://www.ebi.ac.uk/ena/data/view/AF284422 EMBL AF312032 http://www.ebi.ac.uk/ena/data/view/AF312032 EMBL AF312032 http://www.ebi.ac.uk/ena/data/view/AF312032 EMBL AK301411 http://www.ebi.ac.uk/ena/data/view/AK301411 EMBL BC000154 http://www.ebi.ac.uk/ena/data/view/BC000154 EMBL CH236956 http://www.ebi.ac.uk/ena/data/view/CH236956 EMBL CH471091 http://www.ebi.ac.uk/ena/data/view/CH471091 EMBL CH471091 http://www.ebi.ac.uk/ena/data/view/CH471091 EMBL CH471091 http://www.ebi.ac.uk/ena/data/view/CH471091 EMBL CH471091 http://www.ebi.ac.uk/ena/data/view/CH471091 EMBL CH471091 http://www.ebi.ac.uk/ena/data/view/CH471091 EMBL CH471091 http://www.ebi.ac.uk/ena/data/view/CH471091 Ensembl ENST00000354161 http://www.ensembl.org/id/ENST00000354161 Ensembl ENST00000415287 http://www.ensembl.org/id/ENST00000415287 Ensembl ENST00000540482 http://www.ensembl.org/id/ENST00000540482 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0015377 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015377 GO_function GO:0015379 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015379 GO_function GO:0022820 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022820 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GeneCards SLC12A9 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC12A9 GeneID 56996 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=56996 GeneTree ENSGT00760000119053 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119053 H-InvDB HIX0201124 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0201124 HGNC HGNC:17435 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:17435 HOGENOM HOG000018183 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000018183&db=HOGENOM6 HOVERGEN HBG106223 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG106223&db=HOVERGEN InParanoid Q9BXP2 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9BXP2 IntAct Q9BXP2 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9BXP2* InterPro IPR004841 http://www.ebi.ac.uk/interpro/entry/IPR004841 InterPro IPR018491 http://www.ebi.ac.uk/interpro/entry/IPR018491 InterPro IPR030345 http://www.ebi.ac.uk/interpro/entry/IPR030345 Jabion 56996 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=56996 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:56996 http://www.genome.jp/dbget-bin/www_bget?hsa:56996 KEGG_Orthology KO:K14429 http://www.genome.jp/dbget-bin/www_bget?KO:K14429 MIM 616861 http://www.ncbi.nlm.nih.gov/omim/616861 OMA ISGCTEG http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=ISGCTEG OrthoDB EOG091G02RC http://cegg.unige.ch/orthodb/results?searchtext=EOG091G02RC PANTHER PTHR11827:SF52 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11827:SF52 PSORT swissprot:S12A9_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S12A9_HUMAN PSORT-B swissprot:S12A9_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S12A9_HUMAN PSORT2 swissprot:S12A9_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S12A9_HUMAN Pfam PF00324 http://pfam.xfam.org/family/PF00324 Pfam PF03522 http://pfam.xfam.org/family/PF03522 PharmGKB PA134921585 http://www.pharmgkb.org/do/serve?objId=PA134921585&objCls=Gene Phobius swissprot:S12A9_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S12A9_HUMAN PhylomeDB Q9BXP2 http://phylomedb.org/?seqid=Q9BXP2 ProteinModelPortal Q9BXP2 http://www.proteinmodelportal.org/query/uniprot/Q9BXP2 PubMed 10871601 http://www.ncbi.nlm.nih.gov/pubmed/10871601 PubMed 11239002 http://www.ncbi.nlm.nih.gov/pubmed/11239002 PubMed 12853948 http://www.ncbi.nlm.nih.gov/pubmed/12853948 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 RefSeq NP_001254741 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001254741 RefSeq NP_001254743 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001254743 RefSeq NP_064631 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_064631 STRING 9606.ENSP00000275730 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000275730&targetmode=cogs TCDB 2.A.30.3 http://www.tcdb.org/search/result.php?tc=2.A.30.3 UCSC uc003uwp http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003uwp&org=rat UniGene Hs.521087 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.521087 UniProtKB S12A9_HUMAN http://www.uniprot.org/uniprot/S12A9_HUMAN UniProtKB-AC Q9BXP2 http://www.uniprot.org/uniprot/Q9BXP2 charge swissprot:S12A9_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S12A9_HUMAN eggNOG COG0531 http://eggnogapi.embl.de/nog_data/html/tree/COG0531 eggNOG KOG1288 http://eggnogapi.embl.de/nog_data/html/tree/KOG1288 epestfind swissprot:S12A9_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S12A9_HUMAN garnier swissprot:S12A9_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S12A9_HUMAN helixturnhelix swissprot:S12A9_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S12A9_HUMAN hmoment swissprot:S12A9_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S12A9_HUMAN iep swissprot:S12A9_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S12A9_HUMAN inforesidue swissprot:S12A9_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S12A9_HUMAN neXtProt NX_Q9BXP2 http://www.nextprot.org/db/entry/NX_Q9BXP2 octanol swissprot:S12A9_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S12A9_HUMAN pepcoil swissprot:S12A9_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S12A9_HUMAN pepdigest swissprot:S12A9_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S12A9_HUMAN pepinfo swissprot:S12A9_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S12A9_HUMAN pepnet swissprot:S12A9_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S12A9_HUMAN pepstats swissprot:S12A9_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S12A9_HUMAN pepwheel swissprot:S12A9_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S12A9_HUMAN pepwindow swissprot:S12A9_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S12A9_HUMAN sigcleave swissprot:S12A9_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S12A9_HUMAN ## Database ID URL or Descriptions # AltName VACHT_HUMAN Solute carrier family 18 member 3 # CDD cd06174 MFS # Ensembl ENST00000374115 ENSP00000363229; ENSG00000187714 # FUNCTION VACHT_HUMAN Involved in acetylcholine transport into synaptic vesicles. {ECO 0000269|PubMed 8071310}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0016020 membrane; TAS:ProtInc. # GO_component GO:0030121 AP-1 adaptor complex; IBA:GO_Central. # GO_component GO:0030122 AP-2 adaptor complex; IBA:GO_Central. # GO_component GO:0030672 synaptic vesicle membrane; IBA:GO_Central. # GO_component GO:0043195 terminal bouton; IBA:GO_Central. # GO_component GO:0060201 clathrin-sculpted acetylcholine transport vesicle membrane; TAS:Reactome. # GO_function GO:0005277 acetylcholine transmembrane transporter activity; TAS:Reactome. # GO_function GO:0008504 monoamine transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0042166 acetylcholine binding; IBA:GO_Central. # GO_process GO:0007268 chemical synaptic transmission; IBA:GO_Central. # GO_process GO:0007269 neurotransmitter secretion; TAS:Reactome. # GO_process GO:0015870 acetylcholine transport; TAS:ProtInc. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043234 protein complex # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0007267 cell-cell signaling # Genevisible Q16572 HS # HGNC HGNC:10936 SLC18A3 # InterPro IPR011701 MFS # InterPro IPR020846 MFS_dom # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02000 Transporters # KEGG_Brite ko02001 Solute carrier family # KEGG_Pathway ko04721 Synaptic vesicle cycle # KEGG_Pathway ko04725 Cholinergic synapse # MIM 600336 gene # Organism VACHT_HUMAN Homo sapiens (Human) # PIR I38658 I38658 # PROSITE PS50850 MFS # Pfam PF07690 MFS_1 # Proteomes UP000005640 Chromosome 10 # Reactome R-HSA-264642 Acetylcholine Neurotransmitter Release Cycle # Reactome R-HSA-8856825 Cargo recognition for clathrin-mediated endocytosis # Reactome R-HSA-8856828 Clathrin-mediated endocytosis # RecName VACHT_HUMAN Vesicular acetylcholine transporter # RefSeq NP_003046 NM_003055.2 # SIMILARITY Belongs to the major facilitator superfamily. Vesicular transporter family. {ECO 0000305}. # SUBCELLULAR LOCATION VACHT_HUMAN Membrane {ECO 0000255}; Multi-pass membrane protein {ECO 0000255}. # SUBUNIT Interacts with SEC14L1. {ECO:0000269|PubMed 17092608}. # SUPFAM SSF103473 SSF103473; 2 # TCDB 2.A.1.2.28 the major facilitator superfamily (mfs) # TISSUE SPECIFICITY Peripheral and central cholinergic nervous systems. {ECO:0000269|PubMed 8071310}. # UCSC uc001jhw human # eggNOG ENOG410XW69 LUCA # eggNOG KOG3764 Eukaryota BLAST swissprot:VACHT_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:VACHT_HUMAN BioCyc ZFISH:G66-31718-MONOMER http://biocyc.org/getid?id=ZFISH:G66-31718-MONOMER COXPRESdb 6572 http://coxpresdb.jp/data/gene/6572.shtml CleanEx HS_SLC18A3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC18A3 DOI 10.1016/j.neuint.2006.09.010 http://dx.doi.org/10.1016/j.neuint.2006.09.010 DOI 10.1038/nature02462 http://dx.doi.org/10.1038/nature02462 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AC073366 http://www.ebi.ac.uk/ena/data/view/AC073366 EMBL AK313094 http://www.ebi.ac.uk/ena/data/view/AK313094 EMBL BC007765 http://www.ebi.ac.uk/ena/data/view/BC007765 EMBL CH471187 http://www.ebi.ac.uk/ena/data/view/CH471187 EMBL U09210 http://www.ebi.ac.uk/ena/data/view/U09210 EMBL U10554 http://www.ebi.ac.uk/ena/data/view/U10554 Ensembl ENST00000374115 http://www.ensembl.org/id/ENST00000374115 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0030121 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030121 GO_component GO:0030122 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030122 GO_component GO:0030672 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030672 GO_component GO:0043195 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043195 GO_component GO:0060201 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060201 GO_function GO:0005277 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005277 GO_function GO:0008504 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008504 GO_function GO:0042166 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042166 GO_process GO:0007268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007268 GO_process GO:0007269 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007269 GO_process GO:0015870 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015870 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GeneCards SLC18A3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC18A3 GeneID 6572 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6572 GeneTree ENSGT00390000003851 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000003851 HGNC HGNC:10936 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10936 HOGENOM HOG000018545 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000018545&db=HOGENOM6 HOVERGEN HBG055082 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG055082&db=HOVERGEN HPA CAB037102 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB037102 InParanoid Q16572 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q16572 InterPro IPR011701 http://www.ebi.ac.uk/interpro/entry/IPR011701 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 6572 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6572 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:6572 http://www.genome.jp/dbget-bin/www_bget?hsa:6572 KEGG_Orthology KO:K14636 http://www.genome.jp/dbget-bin/www_bget?KO:K14636 KEGG_Pathway ko04721 http://www.genome.jp/kegg-bin/show_pathway?ko04721 KEGG_Pathway ko04725 http://www.genome.jp/kegg-bin/show_pathway?ko04725 MIM 600336 http://www.ncbi.nlm.nih.gov/omim/600336 OMA EVWEPTL http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=EVWEPTL OrthoDB EOG091G0534 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0534 PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PSORT swissprot:VACHT_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:VACHT_HUMAN PSORT-B swissprot:VACHT_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:VACHT_HUMAN PSORT2 swissprot:VACHT_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:VACHT_HUMAN Pfam PF07690 http://pfam.xfam.org/family/PF07690 PharmGKB PA326 http://www.pharmgkb.org/do/serve?objId=PA326&objCls=Gene Phobius swissprot:VACHT_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:VACHT_HUMAN PhylomeDB Q16572 http://phylomedb.org/?seqid=Q16572 ProteinModelPortal Q16572 http://www.proteinmodelportal.org/query/uniprot/Q16572 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15164054 http://www.ncbi.nlm.nih.gov/pubmed/15164054 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 17092608 http://www.ncbi.nlm.nih.gov/pubmed/17092608 PubMed 8071310 http://www.ncbi.nlm.nih.gov/pubmed/8071310 Reactome R-HSA-264642 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-264642 Reactome R-HSA-8856825 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-8856825 Reactome R-HSA-8856828 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-8856828 RefSeq NP_003046 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_003046 STRING 9606.ENSP00000363229 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000363229&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.1.2.28 http://www.tcdb.org/search/result.php?tc=2.A.1.2.28 UCSC uc001jhw http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001jhw&org=rat UniGene Hs.654374 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.654374 UniProtKB VACHT_HUMAN http://www.uniprot.org/uniprot/VACHT_HUMAN UniProtKB-AC Q16572 http://www.uniprot.org/uniprot/Q16572 charge swissprot:VACHT_HUMAN http://rest.g-language.org/emboss/charge/swissprot:VACHT_HUMAN eggNOG ENOG410XW69 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XW69 eggNOG KOG3764 http://eggnogapi.embl.de/nog_data/html/tree/KOG3764 epestfind swissprot:VACHT_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:VACHT_HUMAN garnier swissprot:VACHT_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:VACHT_HUMAN helixturnhelix swissprot:VACHT_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:VACHT_HUMAN hmoment swissprot:VACHT_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:VACHT_HUMAN iep swissprot:VACHT_HUMAN http://rest.g-language.org/emboss/iep/swissprot:VACHT_HUMAN inforesidue swissprot:VACHT_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:VACHT_HUMAN neXtProt NX_Q16572 http://www.nextprot.org/db/entry/NX_Q16572 octanol swissprot:VACHT_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:VACHT_HUMAN pepcoil swissprot:VACHT_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:VACHT_HUMAN pepdigest swissprot:VACHT_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:VACHT_HUMAN pepinfo swissprot:VACHT_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:VACHT_HUMAN pepnet swissprot:VACHT_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:VACHT_HUMAN pepstats swissprot:VACHT_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:VACHT_HUMAN pepwheel swissprot:VACHT_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:VACHT_HUMAN pepwindow swissprot:VACHT_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:VACHT_HUMAN sigcleave swissprot:VACHT_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:VACHT_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S7A13_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8TCU3-1; Sequence=Displayed; Name=2; IsoId=Q8TCU3-2; Sequence=VSP_033067, VSP_033068, VSP_033069; # AltName S7A13_HUMAN Sodium-independent aspartate/glutamate transporter 1 # AltName S7A13_HUMAN X-amino acid transporter 2 # CCDS CCDS34917 -. [Q8TCU3-1] # Ensembl ENST00000297524 ENSP00000297524; ENSG00000164893. [Q8TCU3-1] # Ensembl ENST00000419776 ENSP00000410982; ENSG00000164893. [Q8TCU3-2] # FUNCTION S7A13_HUMAN Mediates the transport L-aspartate and L-glutamate in a sodium-independent manner. {ECO 0000250}. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_function GO:0015175 neutral amino acid transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015179 L-amino acid transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015297 antiporter activity; IBA:GO_Central. # GO_process GO:0015804 neutral amino acid transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # Genevisible Q8TCU3 HS # HGNC HGNC:23092 SLC7A13 # InterPro IPR002293 AA/rel_permease1 # KEGG_Brite ko02001 Solute carrier family # Organism S7A13_HUMAN Homo sapiens (Human) # PANTHER PTHR11785 PTHR11785 # PIRSF PIRSF006060 AA_transporter # Pfam PF13520 AA_permease_2 # Proteomes UP000005640 Chromosome 8 # RecName S7A13_HUMAN Solute carrier family 7 member 13 # RefSeq NP_620172 NM_138817.2. [Q8TCU3-1] # SIMILARITY Belongs to the amino acid-polyamine-organocation (APC) superfamily. {ECO 0000305}. # SUBCELLULAR LOCATION S7A13_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # TCDB 2.A.3.8.24 the amino acid-polyamine-organocation (apc) family # TISSUE SPECIFICITY Expressed in the kidney. {ECO:0000269|PubMed 11943479}. # UCSC uc003ydq human. [Q8TCU3-1] # eggNOG COG0531 LUCA # eggNOG KOG1287 Eukaryota BLAST swissprot:S7A13_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S7A13_HUMAN BioCyc ZFISH:ENSG00000164893-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000164893-MONOMER COXPRESdb 157724 http://coxpresdb.jp/data/gene/157724.shtml CleanEx HS_SLC7A13 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC7A13 DOI 10.1016/S0378-1119(02)00435-3 http://dx.doi.org/10.1016/S0378-1119(02)00435-3 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AJ417661 http://www.ebi.ac.uk/ena/data/view/AJ417661 EMBL AK055815 http://www.ebi.ac.uk/ena/data/view/AK055815 EMBL BC029436 http://www.ebi.ac.uk/ena/data/view/BC029436 EMBL BC125165 http://www.ebi.ac.uk/ena/data/view/BC125165 EMBL BC125166 http://www.ebi.ac.uk/ena/data/view/BC125166 EMBL CH471060 http://www.ebi.ac.uk/ena/data/view/CH471060 Ensembl ENST00000297524 http://www.ensembl.org/id/ENST00000297524 Ensembl ENST00000419776 http://www.ensembl.org/id/ENST00000419776 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0015175 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015175 GO_function GO:0015179 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015179 GO_function GO:0015297 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015297 GO_process GO:0015804 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015804 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GeneCards SLC7A13 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC7A13 GeneID 157724 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=157724 GeneTree ENSGT00760000119037 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119037 H-InvDB HIX0007630 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0007630 HGNC HGNC:23092 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:23092 HOGENOM HOG000098892 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000098892&db=HOGENOM6 HOVERGEN HBG000476 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG000476&db=HOVERGEN InParanoid Q8TCU3 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8TCU3 InterPro IPR002293 http://www.ebi.ac.uk/interpro/entry/IPR002293 Jabion 157724 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=157724 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:157724 http://www.genome.jp/dbget-bin/www_bget?hsa:157724 KEGG_Orthology KO:K13870 http://www.genome.jp/dbget-bin/www_bget?KO:K13870 OMA CSAEISI http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=CSAEISI OrthoDB EOG091G05K3 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G05K3 PANTHER PTHR11785 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11785 PSORT swissprot:S7A13_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S7A13_HUMAN PSORT-B swissprot:S7A13_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S7A13_HUMAN PSORT2 swissprot:S7A13_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S7A13_HUMAN Pfam PF13520 http://pfam.xfam.org/family/PF13520 PharmGKB PA134980828 http://www.pharmgkb.org/do/serve?objId=PA134980828&objCls=Gene Phobius swissprot:S7A13_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S7A13_HUMAN PhylomeDB Q8TCU3 http://phylomedb.org/?seqid=Q8TCU3 ProteinModelPortal Q8TCU3 http://www.proteinmodelportal.org/query/uniprot/Q8TCU3 PubMed 11943479 http://www.ncbi.nlm.nih.gov/pubmed/11943479 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 RefSeq NP_620172 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_620172 STRING 9606.ENSP00000297524 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000297524&targetmode=cogs TCDB 2.A.3.8.24 http://www.tcdb.org/search/result.php?tc=2.A.3.8.24 UCSC uc003ydq http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003ydq&org=rat UniGene Hs.149095 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.149095 UniProtKB S7A13_HUMAN http://www.uniprot.org/uniprot/S7A13_HUMAN UniProtKB-AC Q8TCU3 http://www.uniprot.org/uniprot/Q8TCU3 charge swissprot:S7A13_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S7A13_HUMAN eggNOG COG0531 http://eggnogapi.embl.de/nog_data/html/tree/COG0531 eggNOG KOG1287 http://eggnogapi.embl.de/nog_data/html/tree/KOG1287 epestfind swissprot:S7A13_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S7A13_HUMAN garnier swissprot:S7A13_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S7A13_HUMAN helixturnhelix swissprot:S7A13_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S7A13_HUMAN hmoment swissprot:S7A13_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S7A13_HUMAN iep swissprot:S7A13_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S7A13_HUMAN inforesidue swissprot:S7A13_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S7A13_HUMAN neXtProt NX_Q8TCU3 http://www.nextprot.org/db/entry/NX_Q8TCU3 octanol swissprot:S7A13_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S7A13_HUMAN pepcoil swissprot:S7A13_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S7A13_HUMAN pepdigest swissprot:S7A13_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S7A13_HUMAN pepinfo swissprot:S7A13_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S7A13_HUMAN pepnet swissprot:S7A13_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S7A13_HUMAN pepstats swissprot:S7A13_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S7A13_HUMAN pepwheel swissprot:S7A13_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S7A13_HUMAN pepwindow swissprot:S7A13_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S7A13_HUMAN sigcleave swissprot:S7A13_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S7A13_HUMAN ## Database ID URL or Descriptions # AltName CLIC4_HUMAN Intracellular chloride ion channel protein p64H1 # BioGrid 117431 47 # ChiTaRS CLIC4 human # DOMAIN CLIC4_HUMAN Members of this family may change from a globular, soluble state to a state where the N-terminal domain is inserted into the membrane and functions as chloride channel. A conformation change of the N-terminal domain is thought to expose hydrophobic surfaces that trigger membrane insertion. {ECO 0000269|PubMed 16581025}. # Ensembl ENST00000374379 ENSP00000363500; ENSG00000169504 # Ensembl ENST00000488683 ENSP00000436538; ENSG00000169504 # ExpressionAtlas Q9Y696 baseline and differential # FUNCTION CLIC4_HUMAN Can insert into membranes and form poorly selective ion channels that may also transport chloride ions. Channel activity depends on the pH. Membrane insertion seems to be redox-regulated and may occur only under oxydizing conditions. Promotes cell- surface expression of HRH3. Has alternate cellular functions like a potential role in angiogenesis or in maintaining apical- basolateral membrane polarity during mitosis and cytokinesis. Could also promote endothelial cell proliferation and regulate endothelial morphogenesis (tubulogenesis). {ECO 0000269|PubMed 12163372, ECO 0000269|PubMed 14569596, ECO 0000269|PubMed 16176272, ECO 0000269|PubMed 16239224, ECO 0000269|PubMed 18302930, ECO 0000269|PubMed 19247789}. # GO_component GO:0005622 intracellular; IDA:LIFEdb. # GO_component GO:0005737 cytoplasm; IDA:UniProtKB. # GO_component GO:0005739 mitochondrion; IDA:UniProtKB. # GO_component GO:0005813 centrosome; IDA:UniProtKB. # GO_component GO:0005829 cytosol; IDA:UniProtKB. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0005902 microvillus; IDA:UniProtKB. # GO_component GO:0005911 cell-cell junction; IDA:UniProtKB. # GO_component GO:0009986 cell surface; IDA:UniProtKB. # GO_component GO:0015629 actin cytoskeleton; TAS:UniProtKB. # GO_component GO:0016363 nuclear matrix; IDA:UniProtKB. # GO_component GO:0030496 midbody; IDA:UniProtKB. # GO_component GO:0030659 cytoplasmic vesicle membrane; IEA:UniProtKB-SubCell. # GO_component GO:0034707 chloride channel complex; IEA:UniProtKB-KW. # GO_component GO:0045177 apical part of cell; IDA:UniProtKB. # GO_component GO:0048471 perinuclear region of cytoplasm; IDA:UniProtKB. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0005244 voltage-gated ion channel activity; IEA:UniProtKB-KW. # GO_function GO:0005254 chloride channel activity; TAS:ProtInc. # GO_process GO:0001525 angiogenesis; IBA:GO_Central. # GO_process GO:0001886 endothelial cell morphogenesis; IEA:Ensembl. # GO_process GO:0006821 chloride transport; NAS:UniProtKB. # GO_process GO:0006915 apoptotic process; IEA:InterPro. # GO_process GO:0007035 vacuolar acidification; IEA:Ensembl. # GO_process GO:0009566 fertilization; IEA:Ensembl. # GO_process GO:0030154 cell differentiation; TAS:UniProtKB. # GO_process GO:0030216 keratinocyte differentiation; IMP:UniProtKB. # GO_process GO:0030336 negative regulation of cell migration; IDA:UniProtKB. # GO_process GO:0035088 establishment or maintenance of apical/basal cell polarity; NAS:UniProtKB. # GO_process GO:0035264 multicellular organism growth; IEA:Ensembl. # GO_process GO:0048754 branching morphogenesis of an epithelial tube; IEA:Ensembl. # GO_process GO:0051493 regulation of cytoskeleton organization; NAS:UniProtKB. # GO_process GO:0061299 retina vasculature morphogenesis in camera-type eye; IEA:Ensembl. # GO_process GO:0071277 cellular response to calcium ion; IMP:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005622 intracellular # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005739 mitochondrion # GOslim_component GO:0005815 microtubule organizing center # GOslim_component GO:0005829 cytosol # GOslim_component GO:0005856 cytoskeleton # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0000902 cell morphogenesis # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0008219 cell death # GOslim_process GO:0030154 cell differentiation # GOslim_process GO:0040007 growth # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0048646 anatomical structure formation involved in morphogenesis # Gene3D 1.20.1050.10 -; 1. # Gene3D 3.40.30.10 -; 1. # Genevisible Q9Y696 HS # HGNC HGNC:13518 CLIC4 # INDUCTION CLIC4_HUMAN Up-regulated by calcium ions in differentiating keratinocytes. Up-regulated in myofibroblasts. {ECO 0000269|PubMed 12163372, ECO 0000269|PubMed 17636002}. # IntAct Q9Y696 5 # InterPro IPR002946 CLIC # InterPro IPR010987 Glutathione-S-Trfase_C-like # InterPro IPR012336 Thioredoxin-like_fold # InterPro IPR030257 CLIC-4 # KEGG_Brite ko04040 Ion channels # MIM 606536 gene # Organism CLIC4_HUMAN Homo sapiens (Human) # PANTHER PTHR11260:SF185 PTHR11260:SF185; 2 # PDB 2AHE X-ray; 1.80 A; A=1-251 # PDB 2D2Z X-ray; 2.20 A; A/B/C=1-253 # PDB 3OQS X-ray; 2.00 A; B=198-207 # PIR T17226 T17226 # PRINTS PR01263 INTCLCHANNEL # PROSITE PS50405 GST_CTER # Proteomes UP000005640 Chromosome 1 # RecName CLIC4_HUMAN Chloride intracellular channel protein 4 # RefSeq NP_039234 NM_013943.2 # SIMILARITY Belongs to the chloride channel CLIC family. {ECO 0000305}. # SIMILARITY Contains 1 GST C-terminal domain. {ECO 0000305}. # SUBCELLULAR LOCATION CLIC4_HUMAN Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasmic vesicle membrane {ECO 0000305}; Single-pass membrane protein {ECO 0000305}. Nucleus matrix. Cell membrane {ECO 0000305}; Single-pass membrane protein {ECO 0000305}. Mitochondrion. Cell junction. Note=Colocalized with AKAP9 at the centrosome and midbody. Exists both as soluble cytoplasmic protein and as membrane protein with probably a single transmembrane domain. Present in an intracellular vesicular compartment that likely represent trans-Golgi network vesicles. # SUBUNIT CLIC4_HUMAN Component of a multimeric complex consisting of several cytoskeletal proteins, including actin, ezrin, alpha-actinin, gelsolin, IQGAP1 and CLIC5A. Binds directly to brain dynamin I in a complex containing actin, tubulin and 14-3-3 isoforms. Monomer. Interacts with HRH3. Interacts with AKAP9. {ECO 0000269|PubMed 10793131, ECO 0000269|PubMed 12163479, ECO 0000269|PubMed 16176272, ECO 0000269|PubMed 18302930}. # SUPFAM SSF47616 SSF47616 # SUPFAM SSF52833 SSF52833 # TCDB 1.A.12.1 the intracellular chloride channel (clic) family # TIGRFAMs TIGR00862 O-ClC # TISSUE SPECIFICITY CLIC4_HUMAN Detected in epithelial cells from colon, esophagus and kidney (at protein level). Expression is prominent in heart, kidney, placenta and skeletal muscle. {ECO 0000269|PubMed 10793131, ECO 0000269|PubMed 17200346, ECO 0000269|PubMed 17636002}. # UCSC uc001bjo human # WEB RESOURCE CLIC4_HUMAN Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http //atlasgeneticsoncology.org/Genes/CLIC4ID40102ch1p36.html"; # eggNOG ENOG410ZRK6 LUCA # eggNOG KOG1422 Eukaryota BLAST swissprot:CLIC4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CLIC4_HUMAN BioCyc ZFISH:ENSG00000169504-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000169504-MONOMER COXPRESdb 25932 http://coxpresdb.jp/data/gene/25932.shtml CleanEx HS_CLIC4 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CLIC4 DOI 10.1002/cm.10141 http://dx.doi.org/10.1002/cm.10141 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1007/s10456-009-9139-3 http://dx.doi.org/10.1007/s10456-009-9139-3 DOI 10.1016/S0002-9440(10)64203-4 http://dx.doi.org/10.1016/S0002-9440(10)64203-4 DOI 10.1016/j.bbrc.2006.03.099 http://dx.doi.org/10.1016/j.bbrc.2006.03.099 DOI 10.1016/j.bbrc.2008.02.071 http://dx.doi.org/10.1016/j.bbrc.2008.02.071 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/ac9004309 http://dx.doi.org/10.1021/ac9004309 DOI 10.1074/jbc.M112277200 http://dx.doi.org/10.1074/jbc.M112277200 DOI 10.1074/jbc.M506724200 http://dx.doi.org/10.1074/jbc.M506724200 DOI 10.1074/mcp.M111.015131 http://dx.doi.org/10.1074/mcp.M111.015131 DOI 10.1091/mbc.11.5.1509 http://dx.doi.org/10.1091/mbc.11.5.1509 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1101/gr.GR1547R http://dx.doi.org/10.1101/gr.GR1547R DOI 10.1111/j.1742-4658.2005.04909.x http://dx.doi.org/10.1111/j.1742-4658.2005.04909.x DOI 10.1126/science.1175371 http://dx.doi.org/10.1126/science.1175371 DOI 10.1126/scisignal.2001570 http://dx.doi.org/10.1126/scisignal.2001570 DOI 10.1158/1078-0432.CCR-06-1562 http://dx.doi.org/10.1158/1078-0432.CCR-06-1562 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DOI 10.1242/jcs.002741 http://dx.doi.org/10.1242/jcs.002741 EMBL AF097330 http://www.ebi.ac.uk/ena/data/view/AF097330 EMBL AF109196 http://www.ebi.ac.uk/ena/data/view/AF109196 EMBL AL117424 http://www.ebi.ac.uk/ena/data/view/AL117424 EMBL BC012444 http://www.ebi.ac.uk/ena/data/view/BC012444 Ensembl ENST00000374379 http://www.ensembl.org/id/ENST00000374379 Ensembl ENST00000488683 http://www.ensembl.org/id/ENST00000488683 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005622 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005622 GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005813 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005902 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005902 GO_component GO:0005911 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005911 GO_component GO:0009986 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009986 GO_component GO:0015629 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015629 GO_component GO:0016363 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016363 GO_component GO:0030496 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030496 GO_component GO:0030659 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030659 GO_component GO:0034707 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034707 GO_component GO:0045177 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045177 GO_component GO:0048471 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048471 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0005244 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005244 GO_function GO:0005254 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005254 GO_process GO:0001525 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001525 GO_process GO:0001886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001886 GO_process GO:0006821 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006821 GO_process GO:0006915 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006915 GO_process GO:0007035 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007035 GO_process GO:0009566 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009566 GO_process GO:0030154 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030154 GO_process GO:0030216 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030216 GO_process GO:0030336 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030336 GO_process GO:0035088 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035088 GO_process GO:0035264 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035264 GO_process GO:0048754 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048754 GO_process GO:0051493 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051493 GO_process GO:0061299 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061299 GO_process GO:0071277 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071277 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005622 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005622 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_component GO:0005815 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005815 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0005856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005856 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0000902 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000902 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0008219 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008219 GOslim_process GO:0030154 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030154 GOslim_process GO:0040007 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0040007 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0048646 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048646 Gene3D 1.20.1050.10 http://www.cathdb.info/version/latest/superfamily/1.20.1050.10 Gene3D 3.40.30.10 http://www.cathdb.info/version/latest/superfamily/3.40.30.10 GeneCards CLIC4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CLIC4 GeneID 25932 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=25932 GeneTree ENSGT00550000074477 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074477 HGNC HGNC:13518 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:13518 HOGENOM HOG000231548 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231548&db=HOGENOM6 HOVERGEN HBG050994 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050994&db=HOVERGEN HPA HPA008019 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA008019 HPA HPA060804 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA060804 InParanoid Q9Y696 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9Y696 IntAct Q9Y696 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9Y696* InterPro IPR002946 http://www.ebi.ac.uk/interpro/entry/IPR002946 InterPro IPR010987 http://www.ebi.ac.uk/interpro/entry/IPR010987 InterPro IPR012336 http://www.ebi.ac.uk/interpro/entry/IPR012336 InterPro IPR030257 http://www.ebi.ac.uk/interpro/entry/IPR030257 Jabion 25932 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=25932 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:25932 http://www.genome.jp/dbget-bin/www_bget?hsa:25932 KEGG_Orthology KO:K05024 http://www.genome.jp/dbget-bin/www_bget?KO:K05024 MIM 606536 http://www.ncbi.nlm.nih.gov/omim/606536 MINT MINT-3087884 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-3087884 OMA IWKYLNN http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=IWKYLNN OrthoDB EOG091G0IHT http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0IHT PANTHER PTHR11260:SF185 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11260:SF185 PDB 2AHE http://www.ebi.ac.uk/pdbe-srv/view/entry/2AHE PDB 2D2Z http://www.ebi.ac.uk/pdbe-srv/view/entry/2D2Z PDB 3OQS http://www.ebi.ac.uk/pdbe-srv/view/entry/3OQS PDBsum 2AHE http://www.ebi.ac.uk/pdbsum/2AHE PDBsum 2D2Z http://www.ebi.ac.uk/pdbsum/2D2Z PDBsum 3OQS http://www.ebi.ac.uk/pdbsum/3OQS PRINTS PR01263 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01263 PROSITE PS50405 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50405 PSORT swissprot:CLIC4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CLIC4_HUMAN PSORT-B swissprot:CLIC4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CLIC4_HUMAN PSORT2 swissprot:CLIC4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CLIC4_HUMAN PharmGKB PA26591 http://www.pharmgkb.org/do/serve?objId=PA26591&objCls=Gene Phobius swissprot:CLIC4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CLIC4_HUMAN PhylomeDB Q9Y696 http://phylomedb.org/?seqid=Q9Y696 ProteinModelPortal Q9Y696 http://www.proteinmodelportal.org/query/uniprot/Q9Y696 PubMed 10070163 http://www.ncbi.nlm.nih.gov/pubmed/10070163 PubMed 10191309 http://www.ncbi.nlm.nih.gov/pubmed/10191309 PubMed 10793131 http://www.ncbi.nlm.nih.gov/pubmed/10793131 PubMed 11230166 http://www.ncbi.nlm.nih.gov/pubmed/11230166 PubMed 12163372 http://www.ncbi.nlm.nih.gov/pubmed/12163372 PubMed 12163479 http://www.ncbi.nlm.nih.gov/pubmed/12163479 PubMed 14569596 http://www.ncbi.nlm.nih.gov/pubmed/14569596 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16176272 http://www.ncbi.nlm.nih.gov/pubmed/16176272 PubMed 16239224 http://www.ncbi.nlm.nih.gov/pubmed/16239224 PubMed 16581025 http://www.ncbi.nlm.nih.gov/pubmed/16581025 PubMed 17200346 http://www.ncbi.nlm.nih.gov/pubmed/17200346 PubMed 17636002 http://www.ncbi.nlm.nih.gov/pubmed/17636002 PubMed 18302930 http://www.ncbi.nlm.nih.gov/pubmed/18302930 PubMed 19247789 http://www.ncbi.nlm.nih.gov/pubmed/19247789 PubMed 19413330 http://www.ncbi.nlm.nih.gov/pubmed/19413330 PubMed 19608861 http://www.ncbi.nlm.nih.gov/pubmed/19608861 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 21406692 http://www.ncbi.nlm.nih.gov/pubmed/21406692 PubMed 22223895 http://www.ncbi.nlm.nih.gov/pubmed/22223895 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 RefSeq NP_039234 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_039234 SMR Q9Y696 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9Y696 STRING 9606.ENSP00000363500 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000363500&targetmode=cogs SUPFAM SSF47616 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF47616 SUPFAM SSF52833 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52833 TCDB 1.A.12.1 http://www.tcdb.org/search/result.php?tc=1.A.12.1 TIGRFAMs TIGR00862 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00862 UCSC uc001bjo http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001bjo&org=rat UniGene Hs.440544 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.440544 UniProtKB CLIC4_HUMAN http://www.uniprot.org/uniprot/CLIC4_HUMAN UniProtKB-AC Q9Y696 http://www.uniprot.org/uniprot/Q9Y696 charge swissprot:CLIC4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CLIC4_HUMAN eggNOG ENOG410ZRK6 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410ZRK6 eggNOG KOG1422 http://eggnogapi.embl.de/nog_data/html/tree/KOG1422 epestfind swissprot:CLIC4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CLIC4_HUMAN garnier swissprot:CLIC4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CLIC4_HUMAN helixturnhelix swissprot:CLIC4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CLIC4_HUMAN hmoment swissprot:CLIC4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CLIC4_HUMAN iep swissprot:CLIC4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CLIC4_HUMAN inforesidue swissprot:CLIC4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CLIC4_HUMAN neXtProt NX_Q9Y696 http://www.nextprot.org/db/entry/NX_Q9Y696 octanol swissprot:CLIC4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CLIC4_HUMAN pepcoil swissprot:CLIC4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CLIC4_HUMAN pepdigest swissprot:CLIC4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CLIC4_HUMAN pepinfo swissprot:CLIC4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CLIC4_HUMAN pepnet swissprot:CLIC4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CLIC4_HUMAN pepstats swissprot:CLIC4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CLIC4_HUMAN pepwheel swissprot:CLIC4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CLIC4_HUMAN pepwindow swissprot:CLIC4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CLIC4_HUMAN sigcleave swissprot:CLIC4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CLIC4_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS CSEN_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; Synonyms=KChIP3.1; IsoId=Q9Y2W7-1; Sequence=Displayed; Name=2; Synonyms=KChIP3.2, KChIP4.2; IsoId=Q9Y2W7-2; Sequence=VSP_015040; Note=No experimental confirmation available.; Name=3; Synonyms=KChip3.x; IsoId=Q9Y2W7-3; Sequence=VSP_040982, VSP_040983; # AltName CSEN_HUMAN A-type potassium channel modulatory protein 3 # AltName CSEN_HUMAN DRE-antagonist modulator # AltName CSEN_HUMAN Kv channel-interacting protein 3 # BioGrid 119042 21 # CCDS CCDS2013 -. [Q9Y2W7-1] # CCDS CCDS33245 -. [Q9Y2W7-3] # CDD cd00051 EFh; 2 # ChiTaRS KCNIP3 human # Ensembl ENST00000295225 ENSP00000295225; ENSG00000115041. [Q9Y2W7-1] # Ensembl ENST00000468529 ENSP00000417499; ENSG00000115041. [Q9Y2W7-3] # ExpressionAtlas Q9Y2W7 baseline and differential # FUNCTION CSEN_HUMAN Calcium-dependent transcriptional repressor that binds to the DRE element of genes including PDYN and FOS. Affinity for DNA is reduced upon binding to calcium and enhanced by binding to magnesium. Seems to be involved in nociception (By similarity). {ECO 0000250|UniProtKB Q9QXT8}. # FUNCTION CSEN_HUMAN May play a role in the regulation of PSEN2 proteolytic processing and apoptosis. Together with PSEN2 involved in modulation of beta-amyloid formation. {ECO 0000269|PubMed 11259376, ECO 0000269|PubMed 11988022, ECO 0000269|PubMed 9771752}. # FUNCTION CSEN_HUMAN Regulatory subunit of Kv4/D (Shal)-type voltage-gated rapidly inactivating A-type potassium channels, such as KCND2/Kv4.2 and KCND3/Kv4.3. Modulates channel expression at the cell membrane, gating characteristics, inactivation kinetics and rate of recovery from inactivation in a calcium-dependent and isoform-specific manner. {ECO 0000269|PubMed 10676964, ECO 0000269|PubMed 12829703, ECO 0000269|PubMed 15485870, ECO 0000269|PubMed 16123112, ECO 0000269|PubMed 18957440}. # GO_component GO:0005634 nucleus; IEA:UniProtKB-SubCell. # GO_component GO:0005783 endoplasmic reticulum; IEA:UniProtKB-SubCell. # GO_component GO:0005794 Golgi apparatus; IEA:UniProtKB-SubCell. # GO_component GO:0005829 cytosol; ISS:UniProtKB. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0008076 voltage-gated potassium channel complex; ISS:UniProtKB. # GO_component GO:0030425 dendrite; IEA:Ensembl. # GO_component GO:0032993 protein-DNA complex; IEA:Ensembl. # GO_component GO:0043679 axon terminus; IEA:Ensembl. # GO_function GO:0003677 DNA binding; TAS:ProtInc. # GO_function GO:0003714 transcription corepressor activity; TAS:ProtInc. # GO_function GO:0005244 voltage-gated ion channel activity; IEA:UniProtKB-KW. # GO_function GO:0005267 potassium channel activity; IEA:UniProtKB-KW. # GO_function GO:0005509 calcium ion binding; TAS:ProtInc. # GO_function GO:0015459 potassium channel regulator activity; ISS:UniProtKB. # GO_function GO:0043565 sequence-specific DNA binding; IEA:Ensembl. # GO_process GO:0000122 negative regulation of transcription from RNA polymerase II promoter; IEA:GOC. # GO_process GO:0006351 transcription, DNA-templated; IEA:UniProtKB-KW. # GO_process GO:0006357 regulation of transcription from RNA polymerase II promoter; TAS:ProtInc. # GO_process GO:0006886 intracellular protein transport; IEA:Ensembl. # GO_process GO:0006915 apoptotic process; IEA:UniProtKB-KW. # GO_process GO:0007165 signal transduction; TAS:ProtInc. # GO_process GO:0061337 cardiac conduction; TAS:Reactome. # GO_process GO:0072659 protein localization to plasma membrane; ISS:UniProtKB. # GO_process GO:1901379 regulation of potassium ion transmembrane transport; ISS:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_component GO:0005794 Golgi apparatus # GOslim_component GO:0005829 cytosol # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0000988 transcription factor activity, protein binding # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0003677 DNA binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0007009 plasma membrane organization # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0008219 cell death # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # Gene3D 1.10.238.10 -; 3. # Genevisible Q9Y2W7 HS # HGNC HGNC:15523 KCNIP3 # INTERACTION CSEN_HUMAN Q8N6Q3 CD177; NbExp=6; IntAct=EBI-751501, EBI-747170; P08069 IGF1R; NbExp=5; IntAct=EBI-751501, EBI-475981; Q17RA0 IL6ST; NbExp=3; IntAct=EBI-751501, EBI-10238517; Q7Z434 MAVS; NbExp=3; IntAct=EBI-751501, EBI-995373; # IntAct Q9Y2W7 7 # InterPro IPR002048 EF_hand_dom # InterPro IPR011992 EF-hand-dom_pair # InterPro IPR018247 EF_Hand_1_Ca_BS # InterPro IPR028846 Recoverin # MIM 604662 gene # Organism CSEN_HUMAN Homo sapiens (Human) # PANTHER PTHR23055 PTHR23055 # PDB 2E6W NMR; -; A=161-256 # PROSITE PS00018 EF_HAND_1; 2 # PROSITE PS50222 EF_HAND_2; 3 # PTM CSEN_HUMAN Palmitoylated. Palmitoylation enhances association with the plasma membrane (By similarity). {ECO 0000250}. # PTM CSEN_HUMAN Phosphorylation at Ser-63 inhibits cleavage by CASP3. {ECO 0000269|PubMed 11278424, ECO 0000269|PubMed 12837631}. # PTM CSEN_HUMAN Proteolytically cleaved by caspase-3. {ECO 0000269|PubMed 11278424}. # Pfam PF13499 EF-hand_7 # Pfam PF13833 EF-hand_8 # Proteomes UP000005640 Chromosome 2 # Reactome R-HSA-5576894 Phase 1 - inactivation of fast Na+ channels # RecName CSEN_HUMAN Calsenilin # RefSeq NP_001030086 NM_001034914.1. [Q9Y2W7-3] # RefSeq NP_038462 NM_013434.4. [Q9Y2W7-1] # SIMILARITY Belongs to the recoverin family. {ECO 0000305}. # SIMILARITY Contains 4 EF-hand domains. {ECO:0000255|PROSITE- ProRule PRU00448}. # SMART SM00054 EFh; 3 # SUBCELLULAR LOCATION CSEN_HUMAN Cytoplasm {ECO 0000269|PubMed 18957440}. Cell membrane {ECO 0000269|PubMed 15485870, ECO 0000269|PubMed 18957440}; Lipid-anchor {ECO 0000250}. Endoplasmic reticulum {ECO 0000269|PubMed 11278424, ECO 0000269|PubMed 18957440}. Golgi apparatus {ECO 0000269|PubMed 11278424}. Nucleus {ECO 0000269|PubMed 21070824}. Note=Also membrane-bound, associated with the plasma membrane (PubMed 15485870). In the presence of PSEN2 associated with the endoplasmic reticulum and Golgi. The sumoylated form is present only in the nucleus. {ECO 0000269|PubMed 11278424, ECO 0000269|PubMed 15485870, ECO 0000269|PubMed 21070824}. # SUBUNIT CSEN_HUMAN Binds to DNA as a homomultimer. Dimerization is induced by binding to calcium (PubMed 17962406). Interacts with the C- terminus of PSEN1 and PSEN2 and with PSEN2 CTF subunit. Associates with KCN1. Component of heteromultimeric potassium channels. Identified in potassium channel complexes containing KCND1, KCND2, KCND3, KCNIP1, KCNIP2, KCNIP3, KCNIP4, DPP6 and DPP10 (By similarity). Interacts with KCND2 and KCND3. {ECO 0000250|UniProtKB Q9QXT8, ECO 0000269|PubMed 11278424, ECO 0000269|PubMed 15485870, ECO 0000269|PubMed 17962406, ECO 0000269|PubMed 18957440}. # SUPFAM SSF47473 SSF47473 # TISSUE SPECIFICITY Highly expressed in brain. Widely expressed at lower levels. Expression levels are elevated in brain cortex regions affected by Alzheimer disease. {ECO:0000269|PubMed 14720210}. # UCSC uc002sup human. [Q9Y2W7-1] # eggNOG COG5126 LUCA # eggNOG KOG0044 Eukaryota BLAST swissprot:CSEN_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CSEN_HUMAN BioCyc ZFISH:ENSG00000115041-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000115041-MONOMER COXPRESdb 30818 http://coxpresdb.jp/data/gene/30818.shtml CleanEx HS_KCNIP3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNIP3 DOI 10.1006/mcne.2001.1096 http://dx.doi.org/10.1006/mcne.2001.1096 DOI 10.1016/S1044-7431(03)00072-1 http://dx.doi.org/10.1016/S1044-7431(03)00072-1 DOI 10.1016/j.bbamcr.2010.11.001 http://dx.doi.org/10.1016/j.bbamcr.2010.11.001 DOI 10.1016/j.ygeno.2005.07.001 http://dx.doi.org/10.1016/j.ygeno.2005.07.001 DOI 10.1038/18044 http://dx.doi.org/10.1038/18044 DOI 10.1038/2673 http://dx.doi.org/10.1038/2673 DOI 10.1038/35000592 http://dx.doi.org/10.1038/35000592 DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.M008597200 http://dx.doi.org/10.1074/jbc.M008597200 DOI 10.1074/jbc.M306142200 http://dx.doi.org/10.1074/jbc.M306142200 DOI 10.1074/jbc.M409721200 http://dx.doi.org/10.1074/jbc.M409721200 DOI 10.1074/jbc.M806852200 http://dx.doi.org/10.1074/jbc.M806852200 DOI 10.1096/fj.00-0541fje http://dx.doi.org/10.1096/fj.00-0541fje DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1110/ps.072928007 http://dx.doi.org/10.1110/ps.072928007 DOI 10.1111/j.1471-4159.2004.02159.x http://dx.doi.org/10.1111/j.1471-4159.2004.02159.x DOI 10.1113/jphysiol.2005.087858 http://dx.doi.org/10.1113/jphysiol.2005.087858 DOI 10.1126/science.1133427 http://dx.doi.org/10.1126/science.1133427 EMBL AC009238 http://www.ebi.ac.uk/ena/data/view/AC009238 EMBL AF120102 http://www.ebi.ac.uk/ena/data/view/AF120102 EMBL AF199599 http://www.ebi.ac.uk/ena/data/view/AF199599 EMBL AF367022 http://www.ebi.ac.uk/ena/data/view/AF367022 EMBL AJ131730 http://www.ebi.ac.uk/ena/data/view/AJ131730 EMBL AJ131730 http://www.ebi.ac.uk/ena/data/view/AJ131730 EMBL AK315437 http://www.ebi.ac.uk/ena/data/view/AK315437 EMBL BC012850 http://www.ebi.ac.uk/ena/data/view/BC012850 EMBL BT020075 http://www.ebi.ac.uk/ena/data/view/BT020075 EMBL CH471219 http://www.ebi.ac.uk/ena/data/view/CH471219 EMBL DQ148485 http://www.ebi.ac.uk/ena/data/view/DQ148485 EMBL DQ148486 http://www.ebi.ac.uk/ena/data/view/DQ148486 Ensembl ENST00000295225 http://www.ensembl.org/id/ENST00000295225 Ensembl ENST00000468529 http://www.ensembl.org/id/ENST00000468529 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GO_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0008076 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008076 GO_component GO:0030425 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030425 GO_component GO:0032993 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032993 GO_component GO:0043679 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043679 GO_function GO:0003677 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003677 GO_function GO:0003714 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003714 GO_function GO:0005244 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005244 GO_function GO:0005267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005267 GO_function GO:0005509 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005509 GO_function GO:0015459 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015459 GO_function GO:0043565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043565 GO_process GO:0000122 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000122 GO_process GO:0006351 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006351 GO_process GO:0006357 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006357 GO_process GO:0006886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006886 GO_process GO:0006915 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006915 GO_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GO_process GO:0061337 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061337 GO_process GO:0072659 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0072659 GO_process GO:1901379 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1901379 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0000988 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000988 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0003677 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003677 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007009 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007009 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0008219 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008219 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 Gene3D 1.10.238.10 http://www.cathdb.info/version/latest/superfamily/1.10.238.10 GeneCards KCNIP3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNIP3 GeneID 30818 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=30818 GeneTree ENSGT00760000118820 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118820 HGNC HGNC:15523 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:15523 HOGENOM HOG000233019 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000233019&db=HOGENOM6 HOVERGEN HBG108179 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG108179&db=HOVERGEN HPA CAB006907 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB006907 InParanoid Q9Y2W7 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9Y2W7 IntAct Q9Y2W7 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9Y2W7* InterPro IPR002048 http://www.ebi.ac.uk/interpro/entry/IPR002048 InterPro IPR011992 http://www.ebi.ac.uk/interpro/entry/IPR011992 InterPro IPR018247 http://www.ebi.ac.uk/interpro/entry/IPR018247 InterPro IPR028846 http://www.ebi.ac.uk/interpro/entry/IPR028846 Jabion 30818 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=30818 KEGG_Gene hsa:30818 http://www.genome.jp/dbget-bin/www_bget?hsa:30818 MIM 604662 http://www.ncbi.nlm.nih.gov/omim/604662 MINT MINT-1453732 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1453732 OMA FGILEPM http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=FGILEPM PANTHER PTHR23055 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR23055 PDB 2E6W http://www.ebi.ac.uk/pdbe-srv/view/entry/2E6W PDBsum 2E6W http://www.ebi.ac.uk/pdbsum/2E6W PROSITE PS00018 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00018 PROSITE PS50222 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50222 PSORT swissprot:CSEN_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CSEN_HUMAN PSORT-B swissprot:CSEN_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CSEN_HUMAN PSORT2 swissprot:CSEN_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CSEN_HUMAN Pfam PF13499 http://pfam.xfam.org/family/PF13499 Pfam PF13833 http://pfam.xfam.org/family/PF13833 PharmGKB PA26934 http://www.pharmgkb.org/do/serve?objId=PA26934&objCls=Gene Phobius swissprot:CSEN_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CSEN_HUMAN PhylomeDB Q9Y2W7 http://phylomedb.org/?seqid=Q9Y2W7 ProteinModelPortal Q9Y2W7 http://www.proteinmodelportal.org/query/uniprot/Q9Y2W7 PubMed 10078534 http://www.ncbi.nlm.nih.gov/pubmed/10078534 PubMed 10676964 http://www.ncbi.nlm.nih.gov/pubmed/10676964 PubMed 11259376 http://www.ncbi.nlm.nih.gov/pubmed/11259376 PubMed 11278424 http://www.ncbi.nlm.nih.gov/pubmed/11278424 PubMed 11988022 http://www.ncbi.nlm.nih.gov/pubmed/11988022 PubMed 12829703 http://www.ncbi.nlm.nih.gov/pubmed/12829703 PubMed 12837631 http://www.ncbi.nlm.nih.gov/pubmed/12837631 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 14720210 http://www.ncbi.nlm.nih.gov/pubmed/14720210 PubMed 15485870 http://www.ncbi.nlm.nih.gov/pubmed/15485870 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 PubMed 16112838 http://www.ncbi.nlm.nih.gov/pubmed/16112838 PubMed 16123112 http://www.ncbi.nlm.nih.gov/pubmed/16123112 PubMed 16959974 http://www.ncbi.nlm.nih.gov/pubmed/16959974 PubMed 17962406 http://www.ncbi.nlm.nih.gov/pubmed/17962406 PubMed 18957440 http://www.ncbi.nlm.nih.gov/pubmed/18957440 PubMed 21070824 http://www.ncbi.nlm.nih.gov/pubmed/21070824 PubMed 9771752 http://www.ncbi.nlm.nih.gov/pubmed/9771752 Reactome R-HSA-5576894 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576894 RefSeq NP_001030086 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001030086 RefSeq NP_038462 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_038462 SMART SM00054 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00054 SMR Q9Y2W7 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9Y2W7 STRING 9606.ENSP00000295225 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000295225&targetmode=cogs SUPFAM SSF47473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF47473 UCSC uc002sup http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002sup&org=rat UniGene Hs.437376 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.437376 UniProtKB CSEN_HUMAN http://www.uniprot.org/uniprot/CSEN_HUMAN UniProtKB-AC Q9Y2W7 http://www.uniprot.org/uniprot/Q9Y2W7 charge swissprot:CSEN_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CSEN_HUMAN eggNOG COG5126 http://eggnogapi.embl.de/nog_data/html/tree/COG5126 eggNOG KOG0044 http://eggnogapi.embl.de/nog_data/html/tree/KOG0044 epestfind swissprot:CSEN_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CSEN_HUMAN garnier swissprot:CSEN_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CSEN_HUMAN helixturnhelix swissprot:CSEN_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CSEN_HUMAN hmoment swissprot:CSEN_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CSEN_HUMAN iep swissprot:CSEN_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CSEN_HUMAN inforesidue swissprot:CSEN_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CSEN_HUMAN neXtProt NX_Q9Y2W7 http://www.nextprot.org/db/entry/NX_Q9Y2W7 octanol swissprot:CSEN_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CSEN_HUMAN pepcoil swissprot:CSEN_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CSEN_HUMAN pepdigest swissprot:CSEN_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CSEN_HUMAN pepinfo swissprot:CSEN_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CSEN_HUMAN pepnet swissprot:CSEN_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CSEN_HUMAN pepstats swissprot:CSEN_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CSEN_HUMAN pepwheel swissprot:CSEN_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CSEN_HUMAN pepwindow swissprot:CSEN_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CSEN_HUMAN sigcleave swissprot:CSEN_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CSEN_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS KCJ11_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q14654-1; Sequence=Displayed; Name=2; IsoId=Q14654-2; Sequence=VSP_045270; # AltName KCJ11_HUMAN IKATP # AltName KCJ11_HUMAN Inward rectifier K(+) channel Kir6.2 # AltName KCJ11_HUMAN Potassium channel, inwardly rectifying subfamily J member 11 # BioGrid 109969 12 # CCDS CCDS31436 -. [Q14654-1] # CCDS CCDS53606 -. [Q14654-2] # DISEASE KCJ11_HUMAN Diabetes mellitus, permanent neonatal (PNDM) [MIM 606176] A rare form of diabetes distinct from childhood- onset autoimmune diabetes mellitus type 1. It is characterized by insulin-requiring hyperglycemia that is diagnosed within the first months of life. Permanent neonatal diabetes requires lifelong therapy. {ECO 0000269|PubMed 15115830, ECO 0000269|PubMed 15292329, ECO 0000269|PubMed 15448106, ECO 0000269|PubMed 15448107, ECO 0000269|PubMed 15580558, ECO 0000269|PubMed 16609879, ECO 0000269|PubMed 16731833, ECO 0000269|PubMed 17213273, ECO 0000269|PubMed 17652641, ECO 0000269|PubMed 20022885}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE KCJ11_HUMAN Familial hyperinsulinemic hypoglycemia 2 (HHF2) [MIM 601820] Most common cause of persistent hypoglycemia in infancy. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur. {ECO 0000269|PubMed 10204114, ECO 0000269|PubMed 12364426, ECO 0000269|PubMed 15562009, ECO 0000269|PubMed 15579781, ECO 0000269|PubMed 15807877, ECO 0000269|PubMed 15998776, ECO 0000269|PubMed 16332676, ECO 0000269|PubMed 16357843, ECO 0000269|PubMed 18596924, ECO 0000269|PubMed 19357197, ECO 0000269|PubMed 7847376, ECO 0000269|PubMed 8923010}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE KCJ11_HUMAN Maturity-onset diabetes of the young 13 (MODY13) [MIM 616329] A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease. {ECO 0000269|PubMed 22701567}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE KCJ11_HUMAN Note=Defects in KCNJ11 may contribute to non-insulin- dependent diabetes mellitus (NIDDM), also known as diabetes mellitus type 2. # DISEASE KCJ11_HUMAN Transient neonatal diabetes mellitus 3 (TNDM3) [MIM 610582] Neonatal diabetes mellitus, defined as insulin- requiring hyperglycemia within the first month of life, is a rare entity. In about half of the neonates, diabetes is transient and resolves at a median age of 3 months, whereas the rest have a permanent form of diabetes. In a significant number of patients with transient neonatal diabetes mellitus, diabetes type 2 appears later in life. The onset and severity of TNDM3 is variable with childhood-onset diabetes, gestational diabetes or adult-onset diabetes described. {ECO 0000269|PubMed 15718250, ECO 0000269|PubMed 15784703}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DrugBank DB00222 Glimepiride # DrugBank DB00308 Ibutilide # DrugBank DB00661 Verapamil # DrugBank DB00922 Levosimendan # DrugBank DB01016 Glyburide # DrugBank DB01119 Diazoxide # DrugBank DB01154 Thiamylal # DrugBank DB01392 Yohimbine # Ensembl ENST00000339994 ENSP00000345708; ENSG00000187486 # Ensembl ENST00000528731 ENSP00000434755; ENSG00000187486 # ExpressionAtlas Q14654 baseline and differential # FUNCTION KCJ11_HUMAN This receptor is controlled by G proteins. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by extracellular barium (By similarity). Subunit of ATP-sensitive potassium channels (KATP). Can form cardiac and smooth muscle-type KATP channels with ABCC9. KCNJ11 forms the channel pore while ABCC9 is required for activation and regulation. {ECO 0000250, ECO 0000269|PubMed 17855752, ECO 0000269|PubMed 9831708}. # GO_component GO:0005635 nuclear envelope; IEA:Ensembl. # GO_component GO:0005739 mitochondrion; IEA:Ensembl. # GO_component GO:0005768 endosome; IEA:Ensembl. # GO_component GO:0005783 endoplasmic reticulum; IEA:Ensembl. # GO_component GO:0005829 cytosol; IEA:Ensembl. # GO_component GO:0005886 plasma membrane; IDA:BHF-UCL. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0008076 voltage-gated potassium channel complex; IDA:BHF-UCL. # GO_component GO:0008282 ATP-sensitive potassium channel complex; IDA:BHF-UCL. # GO_component GO:0014704 intercalated disc; IEA:Ensembl. # GO_component GO:0030315 T-tubule; ISS:BHF-UCL. # GO_component GO:0030673 axolemma; IEA:Ensembl. # GO_component GO:0043025 neuronal cell body; IEA:Ensembl. # GO_component GO:0043209 myelin sheath; IEA:Ensembl. # GO_component GO:0070852 cell body fiber; IEA:Ensembl. # GO_function GO:0005249 voltage-gated potassium channel activity; IDA:BHF-UCL. # GO_function GO:0005524 ATP binding; ISS:BHF-UCL. # GO_function GO:0015272 ATP-activated inward rectifier potassium channel activity; ISS:BHF-UCL. # GO_function GO:0030506 ankyrin binding; IPI:BHF-UCL. # GO_function GO:0030955 potassium ion binding; TAS:BHF-UCL. # GO_function GO:0044325 ion channel binding; IPI:BHF-UCL. # GO_process GO:0002931 response to ischemia; IEA:Ensembl. # GO_process GO:0006006 glucose metabolic process; IMP:BHF-UCL. # GO_process GO:0010107 potassium ion import; ISS:BHF-UCL. # GO_process GO:0032355 response to estradiol; IEA:Ensembl. # GO_process GO:0033198 response to ATP; IDA:BHF-UCL. # GO_process GO:0033574 response to testosterone; IEA:Ensembl. # GO_process GO:0042391 regulation of membrane potential; IDA:BHF-UCL. # GO_process GO:0042493 response to drug; IMP:BHF-UCL. # GO_process GO:0046676 negative regulation of insulin secretion; IMP:BHF-UCL. # GO_process GO:0050796 regulation of insulin secretion; IMP:BHF-UCL. # GO_process GO:0050877 neurological system process; IMP:BHF-UCL. # GO_process GO:0055085 transmembrane transport; TAS:Reactome. # GO_process GO:0071316 cellular response to nicotine; IEA:Ensembl. # GO_process GO:0071333 cellular response to glucose stimulus; IEA:Ensembl. # GO_process GO:0071356 cellular response to tumor necrosis factor; IEA:Ensembl. # GO_process GO:0071805 potassium ion transmembrane transport; IDA:BHF-UCL. # GO_process GO:1903779 regulation of cardiac conduction; TAS:Reactome. # GO_process GO:2001259 positive regulation of cation channel activity; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005635 nuclear envelope # GOslim_component GO:0005739 mitochondrion # GOslim_component GO:0005768 endosome # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_component GO:0005829 cytosol # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0008092 cytoskeletal protein binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0005975 carbohydrate metabolic process # GOslim_process GO:0006950 response to stress # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0044281 small molecule metabolic process # GOslim_process GO:0050877 neurological system process # GOslim_process GO:0055085 transmembrane transport # Gene3D 2.60.40.1400 -; 1. # Genevisible Q14654 HS # HGNC HGNC:6257 KCNJ11 # IntAct Q14654 4 # InterPro IPR003279 K_chnl_inward-rec_Kir6.2 # InterPro IPR013518 K_chnl_inward-rec_Kir_cyto # InterPro IPR014756 Ig_E-set # InterPro IPR016449 K_chnl_inward-rec_Kir # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00409 [Metabolic disease; Endocrine disease] Type II diabetes mellitus # KEGG_Disease H00512 [Metabolic disease; Endocrine disease] Permanent neonatal diabetes mellitus (PNDM) # KEGG_Disease H00513 [Metabolic disease; Endocrine disease] Transient neonatal diabetes mellitus (TNDM) # KEGG_Disease H01267 [Inherited metabolic disease] Familial hyperinsulinemic hypoglycemia (HHF) # KEGG_Pathway ko04930 Type II diabetes mellitus # MIM 600937 gene # MIM 601820 phenotype # MIM 606176 phenotype # MIM 610582 phenotype # MIM 616329 phenotype # Organism KCJ11_HUMAN Homo sapiens (Human) # Orphanet 276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency # Orphanet 276603 Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency # Orphanet 552 MODY # Orphanet 79134 DEND syndrome # Orphanet 79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency # Orphanet 99885 Permanent neonatal diabetes mellitus # Orphanet 99886 Transient neonatal diabetes mellitus # Orphanet 99989 Intermediate DEND syndrome # PANTHER PTHR11767 PTHR11767 # PANTHER PTHR11767:SF44 PTHR11767:SF44 # PIR A57616 A57616 # PIRSF PIRSF005465 GIRK_kir # PRINTS PR01320 KIRCHANNEL # PRINTS PR01332 KIR62CHANNEL # PTM KCJ11_HUMAN Phosphorylation by MAPK1 results in changes in channel gating that destabilize the closed states and reduce the ATP sensitivity. {ECO 0000269|PubMed 18280666}. # Pfam PF01007 IRK # Proteomes UP000005640 Chromosome 11 # Reactome R-HSA-1296025 ATP sensitive Potassium channels # Reactome R-HSA-382556 ABC-family proteins mediated transport # Reactome R-HSA-422356 Regulation of insulin secretion # Reactome R-HSA-5578775 Ion homeostasis # Reactome R-HSA-5683177 Defective ABCC8 can cause hypoglycemias and hyperglycemias # RecName KCJ11_HUMAN ATP-sensitive inward rectifier potassium channel 11 # RefSeq NP_001159762 NM_001166290.1 # SEQUENCE CAUTION Sequence=AAH40617.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ11 subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION KCJ11_HUMAN Membrane; Multi-pass membrane protein. # SUBUNIT KCJ11_HUMAN Interacts with ABCC8/SUR. Interacts with ABCC9/SUR2. {ECO 0000269|PubMed 17855752, ECO 0000269|PubMed 9831708}. # SUPFAM SSF81296 SSF81296 # UCSC uc001mna human. [Q14654-1] # eggNOG ENOG410XQ62 LUCA # eggNOG KOG3827 Eukaryota BLAST swissprot:KCJ11_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCJ11_HUMAN BioCyc ZFISH:G66-33006-MONOMER http://biocyc.org/getid?id=ZFISH:G66-33006-MONOMER COXPRESdb 3767 http://coxpresdb.jp/data/gene/3767.shtml CleanEx HS_KCNJ11 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNJ11 DIP DIP-58643N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-58643N DOI 10.1002/(SICI)1098-1004(1999)13:5<351::AID-HUMU3>3.0.CO http://dx.doi.org/10.1002/(SICI)1098-1004(1999)13:5<351::AID-HUMU3>3.0.CO DOI 10.1002/humu.20124 http://dx.doi.org/10.1002/humu.20124 DOI 10.1002/humu.9401 http://dx.doi.org/10.1002/humu.9401 DOI 10.1007/BF02658512 http://dx.doi.org/10.1007/BF02658512 DOI 10.1007/s00125-006-0246-z http://dx.doi.org/10.1007/s00125-006-0246-z DOI 10.1016/S0006-3495(03)74847-4 http://dx.doi.org/10.1016/S0006-3495(03)74847-4 DOI 10.1016/j.neuroscience.2008.01.003 http://dx.doi.org/10.1016/j.neuroscience.2008.01.003 DOI 10.1038/10297 http://dx.doi.org/10.1038/10297 DOI 10.1038/modpathol.3800497 http://dx.doi.org/10.1038/modpathol.3800497 DOI 10.1038/nature04632 http://dx.doi.org/10.1038/nature04632 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1056/NEJMoa032922 http://dx.doi.org/10.1056/NEJMoa032922 DOI 10.1073/pnas.0404756101 http://dx.doi.org/10.1073/pnas.0404756101 DOI 10.1074/jbc.M511875200 http://dx.doi.org/10.1074/jbc.M511875200 DOI 10.1093/hmg/5.11.1809 http://dx.doi.org/10.1093/hmg/5.11.1809 DOI 10.1093/hmg/ddi086 http://dx.doi.org/10.1093/hmg/ddi086 DOI 10.1093/hmg/ddp179 http://dx.doi.org/10.1093/hmg/ddp179 DOI 10.1093/hmg/ddp554 http://dx.doi.org/10.1093/hmg/ddp554 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1365-2265.2005.02242.x http://dx.doi.org/10.1111/j.1365-2265.2005.02242.x DOI 10.1113/jphysiol.2007.143149 http://dx.doi.org/10.1113/jphysiol.2007.143149 DOI 10.1126/science.270.5239.1166 http://dx.doi.org/10.1126/science.270.5239.1166 DOI 10.1161/01.RES.83.11.1132 http://dx.doi.org/10.1161/01.RES.83.11.1132 DOI 10.1172/JCI35414 http://dx.doi.org/10.1172/JCI35414 DOI 10.1210/edrv.20.2.0361 http://dx.doi.org/10.1210/edrv.20.2.0361 DOI 10.1210/jc.2002-020378 http://dx.doi.org/10.1210/jc.2002-020378 DOI 10.1210/jc.2004-0568 http://dx.doi.org/10.1210/jc.2004-0568 DOI 10.1210/jc.2004-1233 http://dx.doi.org/10.1210/jc.2004-1233 DOI 10.1210/jc.2004-1604 http://dx.doi.org/10.1210/jc.2004-1604 DOI 10.1210/jc.2005-0096 http://dx.doi.org/10.1210/jc.2005-0096 DOI 10.1210/jc.2005-0202 http://dx.doi.org/10.1210/jc.2005-0202 DOI 10.1210/jc.2006-2490 http://dx.doi.org/10.1210/jc.2006-2490 DOI 10.1212/01.wnl.0000268488.51776.53 http://dx.doi.org/10.1212/01.wnl.0000268488.51776.53 DOI 10.1371/journal.pone.0037423 http://dx.doi.org/10.1371/journal.pone.0037423 DOI 10.2337/db05-1640 http://dx.doi.org/10.2337/db05-1640 DOI 10.2337/diab.46.3.502 http://dx.doi.org/10.2337/diab.46.3.502 DOI 10.2337/diabetes.53.10.2713 http://dx.doi.org/10.2337/diabetes.53.10.2713 DOI 10.2337/diabetes.53.10.2719 http://dx.doi.org/10.2337/diabetes.53.10.2719 DrugBank DB00222 http://www.drugbank.ca/drugs/DB00222 DrugBank DB00308 http://www.drugbank.ca/drugs/DB00308 DrugBank DB00661 http://www.drugbank.ca/drugs/DB00661 DrugBank DB00922 http://www.drugbank.ca/drugs/DB00922 DrugBank DB01016 http://www.drugbank.ca/drugs/DB01016 DrugBank DB01119 http://www.drugbank.ca/drugs/DB01119 DrugBank DB01154 http://www.drugbank.ca/drugs/DB01154 DrugBank DB01392 http://www.drugbank.ca/drugs/DB01392 EMBL AC124798 http://www.ebi.ac.uk/ena/data/view/AC124798 EMBL AK301550 http://www.ebi.ac.uk/ena/data/view/AK301550 EMBL BC040617 http://www.ebi.ac.uk/ena/data/view/BC040617 EMBL BC064497 http://www.ebi.ac.uk/ena/data/view/BC064497 EMBL BC112358 http://www.ebi.ac.uk/ena/data/view/BC112358 EMBL D50582 http://www.ebi.ac.uk/ena/data/view/D50582 Ensembl ENST00000339994 http://www.ensembl.org/id/ENST00000339994 Ensembl ENST00000528731 http://www.ensembl.org/id/ENST00000528731 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005635 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005635 GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GO_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0008076 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008076 GO_component GO:0008282 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008282 GO_component GO:0014704 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014704 GO_component GO:0030315 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030315 GO_component GO:0030673 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030673 GO_component GO:0043025 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043025 GO_component GO:0043209 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043209 GO_component GO:0070852 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070852 GO_function GO:0005249 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005249 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0015272 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015272 GO_function GO:0030506 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030506 GO_function GO:0030955 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030955 GO_function GO:0044325 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044325 GO_process GO:0002931 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002931 GO_process GO:0006006 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006006 GO_process GO:0010107 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010107 GO_process GO:0032355 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032355 GO_process GO:0033198 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033198 GO_process GO:0033574 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033574 GO_process GO:0042391 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042391 GO_process GO:0042493 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042493 GO_process GO:0046676 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046676 GO_process GO:0050796 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050796 GO_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GO_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GO_process GO:0071316 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071316 GO_process GO:0071333 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071333 GO_process GO:0071356 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071356 GO_process GO:0071805 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071805 GO_process GO:1903779 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903779 GO_process GO:2001259 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2001259 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005635 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005635 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0008092 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008092 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0005975 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005975 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 2.60.40.1400 http://www.cathdb.info/version/latest/superfamily/2.60.40.1400 GeneCards KCNJ11 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNJ11 GeneID 3767 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=3767 H-InvDB HIX0035982 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0035982 HGNC HGNC:6257 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6257 HOGENOM HOG000237325 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000237325&db=HOGENOM6 HOVERGEN HBG006178 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG006178&db=HOVERGEN HPA HPA048891 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA048891 InParanoid Q14654 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q14654 IntAct Q14654 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q14654* InterPro IPR003279 http://www.ebi.ac.uk/interpro/entry/IPR003279 InterPro IPR013518 http://www.ebi.ac.uk/interpro/entry/IPR013518 InterPro IPR014756 http://www.ebi.ac.uk/interpro/entry/IPR014756 InterPro IPR016449 http://www.ebi.ac.uk/interpro/entry/IPR016449 Jabion 3767 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=3767 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00409 http://www.genome.jp/dbget-bin/www_bget?H00409 KEGG_Disease H00512 http://www.genome.jp/dbget-bin/www_bget?H00512 KEGG_Disease H00513 http://www.genome.jp/dbget-bin/www_bget?H00513 KEGG_Disease H01267 http://www.genome.jp/dbget-bin/www_bget?H01267 KEGG_Gene hsa:3767 http://www.genome.jp/dbget-bin/www_bget?hsa:3767 KEGG_Orthology KO:K05004 http://www.genome.jp/dbget-bin/www_bget?KO:K05004 KEGG_Pathway ko04930 http://www.genome.jp/kegg-bin/show_pathway?ko04930 MIM 600937 http://www.ncbi.nlm.nih.gov/omim/600937 MIM 601820 http://www.ncbi.nlm.nih.gov/omim/601820 MIM 606176 http://www.ncbi.nlm.nih.gov/omim/606176 MIM 610582 http://www.ncbi.nlm.nih.gov/omim/610582 MIM 616329 http://www.ncbi.nlm.nih.gov/omim/616329 Orphanet 276580 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=276580 Orphanet 276603 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=276603 Orphanet 552 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=552 Orphanet 79134 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=79134 Orphanet 79644 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=79644 Orphanet 99885 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=99885 Orphanet 99886 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=99886 Orphanet 99989 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=99989 OrthoDB EOG091G08HC http://cegg.unige.ch/orthodb/results?searchtext=EOG091G08HC PANTHER PTHR11767 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11767 PANTHER PTHR11767:SF44 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11767:SF44 PRINTS PR01320 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01320 PRINTS PR01332 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01332 PSORT swissprot:KCJ11_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCJ11_HUMAN PSORT-B swissprot:KCJ11_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCJ11_HUMAN PSORT2 swissprot:KCJ11_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCJ11_HUMAN Pfam PF01007 http://pfam.xfam.org/family/PF01007 PharmGKB PA217 http://www.pharmgkb.org/do/serve?objId=PA217&objCls=Gene Phobius swissprot:KCJ11_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCJ11_HUMAN PhylomeDB Q14654 http://phylomedb.org/?seqid=Q14654 ProteinModelPortal Q14654 http://www.proteinmodelportal.org/query/uniprot/Q14654 PubMed 10204114 http://www.ncbi.nlm.nih.gov/pubmed/10204114 PubMed 10338089 http://www.ncbi.nlm.nih.gov/pubmed/10338089 PubMed 10391210 http://www.ncbi.nlm.nih.gov/pubmed/10391210 PubMed 12364426 http://www.ncbi.nlm.nih.gov/pubmed/12364426 PubMed 12524280 http://www.ncbi.nlm.nih.gov/pubmed/12524280 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15115830 http://www.ncbi.nlm.nih.gov/pubmed/15115830 PubMed 15292329 http://www.ncbi.nlm.nih.gov/pubmed/15292329 PubMed 15448106 http://www.ncbi.nlm.nih.gov/pubmed/15448106 PubMed 15448107 http://www.ncbi.nlm.nih.gov/pubmed/15448107 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15562009 http://www.ncbi.nlm.nih.gov/pubmed/15562009 PubMed 15579781 http://www.ncbi.nlm.nih.gov/pubmed/15579781 PubMed 15580558 http://www.ncbi.nlm.nih.gov/pubmed/15580558 PubMed 15583126 http://www.ncbi.nlm.nih.gov/pubmed/15583126 PubMed 15718250 http://www.ncbi.nlm.nih.gov/pubmed/15718250 PubMed 15784703 http://www.ncbi.nlm.nih.gov/pubmed/15784703 PubMed 15807877 http://www.ncbi.nlm.nih.gov/pubmed/15807877 PubMed 15998776 http://www.ncbi.nlm.nih.gov/pubmed/15998776 PubMed 16332676 http://www.ncbi.nlm.nih.gov/pubmed/16332676 PubMed 16357843 http://www.ncbi.nlm.nih.gov/pubmed/16357843 PubMed 16429405 http://www.ncbi.nlm.nih.gov/pubmed/16429405 PubMed 16554811 http://www.ncbi.nlm.nih.gov/pubmed/16554811 PubMed 16609879 http://www.ncbi.nlm.nih.gov/pubmed/16609879 PubMed 16731833 http://www.ncbi.nlm.nih.gov/pubmed/16731833 PubMed 17213273 http://www.ncbi.nlm.nih.gov/pubmed/17213273 PubMed 17652641 http://www.ncbi.nlm.nih.gov/pubmed/17652641 PubMed 17855752 http://www.ncbi.nlm.nih.gov/pubmed/17855752 PubMed 18280666 http://www.ncbi.nlm.nih.gov/pubmed/18280666 PubMed 18596924 http://www.ncbi.nlm.nih.gov/pubmed/18596924 PubMed 19357197 http://www.ncbi.nlm.nih.gov/pubmed/19357197 PubMed 20022885 http://www.ncbi.nlm.nih.gov/pubmed/20022885 PubMed 22701567 http://www.ncbi.nlm.nih.gov/pubmed/22701567 PubMed 7502040 http://www.ncbi.nlm.nih.gov/pubmed/7502040 PubMed 7847376 http://www.ncbi.nlm.nih.gov/pubmed/7847376 PubMed 8897013 http://www.ncbi.nlm.nih.gov/pubmed/8897013 PubMed 8923010 http://www.ncbi.nlm.nih.gov/pubmed/8923010 PubMed 9032109 http://www.ncbi.nlm.nih.gov/pubmed/9032109 PubMed 9831708 http://www.ncbi.nlm.nih.gov/pubmed/9831708 Reactome R-HSA-1296025 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1296025 Reactome R-HSA-382556 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-382556 Reactome R-HSA-422356 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-422356 Reactome R-HSA-5578775 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5578775 Reactome R-HSA-5683177 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5683177 RefSeq NP_001159762 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001159762 SMR Q14654 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q14654 STRING 9606.ENSP00000345708 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000345708&targetmode=cogs SUPFAM SSF81296 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81296 UCSC uc001mna http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001mna&org=rat UniGene Hs.248141 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.248141 UniProtKB KCJ11_HUMAN http://www.uniprot.org/uniprot/KCJ11_HUMAN UniProtKB-AC Q14654 http://www.uniprot.org/uniprot/Q14654 charge swissprot:KCJ11_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCJ11_HUMAN eggNOG ENOG410XQ62 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XQ62 eggNOG KOG3827 http://eggnogapi.embl.de/nog_data/html/tree/KOG3827 epestfind swissprot:KCJ11_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCJ11_HUMAN garnier swissprot:KCJ11_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCJ11_HUMAN helixturnhelix swissprot:KCJ11_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCJ11_HUMAN hmoment swissprot:KCJ11_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCJ11_HUMAN iep swissprot:KCJ11_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCJ11_HUMAN inforesidue swissprot:KCJ11_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCJ11_HUMAN neXtProt NX_Q14654 http://www.nextprot.org/db/entry/NX_Q14654 octanol swissprot:KCJ11_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCJ11_HUMAN pepcoil swissprot:KCJ11_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCJ11_HUMAN pepdigest swissprot:KCJ11_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCJ11_HUMAN pepinfo swissprot:KCJ11_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCJ11_HUMAN pepnet swissprot:KCJ11_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCJ11_HUMAN pepstats swissprot:KCJ11_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCJ11_HUMAN pepwheel swissprot:KCJ11_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCJ11_HUMAN pepwindow swissprot:KCJ11_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCJ11_HUMAN sigcleave swissprot:KCJ11_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCJ11_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS KCNQ3_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O43525-1; Sequence=Displayed; Name=2; IsoId=O43525-2; Sequence=VSP_044906, VSP_044907; Note=No experimental confirmation available.; # AltName KCNQ3_HUMAN KQT-like 3 # AltName KCNQ3_HUMAN Potassium channel subunit alpha KvLQT3 # AltName KCNQ3_HUMAN Voltage-gated potassium channel subunit Kv7.3 # BioGrid 109987 2 # CCDS CCDS34943 -. [O43525-1] # CCDS CCDS56554 -. [O43525-2] # ChiTaRS KCNQ3 human # DISEASE KCNQ3_HUMAN Note=Defects in KCNQ3 may be involved in epileptic disorders. These are characterized by paroxysmal transient disturbances of the electrical activity of the brain that may be manifested as episodic impairment or loss of consciousness, abnormal motor phenomena, psychic or sensory disturbances, or perturbation of the autonomic nervous system. {ECO 0000269|PubMed 22612257}. # DISEASE KCNQ3_HUMAN Seizures, benign familial neonatal 2 (BFNS2) [MIM 121201] A disorder characterized by clusters of seizures occurring in the first days of life. Most patients have spontaneous remission by 12 months of age and show normal psychomotor development. The disorder is distinguished from benign familial infantile seizures by an earlier age at onset. {ECO 0000269|PubMed 10852552, ECO 0000269|PubMed 14534157, ECO 0000269|PubMed 9425900}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DOMAIN KCNQ3_HUMAN The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position. {ECO 0000250}. # DrugBank DB00321 Amitriptyline # DrugBank DB00586 Diclofenac # DrugBank DB00939 Meclofenamic acid # DrugBank DB04953 Ezogabine # Ensembl ENST00000388996 ENSP00000373648; ENSG00000184156. [O43525-1] # Ensembl ENST00000521134 ENSP00000429799; ENSG00000184156. [O43525-2] # ExpressionAtlas O43525 baseline and differential # FUNCTION KCNQ3_HUMAN Probably important in the regulation of neuronal excitability. Associates with KCNQ2 or KCNQ5 to form a potassium channel with essentially identical properties to the channel underlying the native M-current, a slowly activating and deactivating potassium conductance which plays a critical role in determining the subthreshold electrical excitability of neurons as well as the responsiveness to synaptic inputs. # GO_component GO:0005886 plasma membrane; ISS:BHF-UCL. # GO_component GO:0008076 voltage-gated potassium channel complex; TAS:ProtInc. # GO_component GO:0009986 cell surface; IEA:Ensembl. # GO_component GO:0033268 node of Ranvier; ISS:BHF-UCL. # GO_component GO:0043194 axon initial segment; ISS:BHF-UCL. # GO_function GO:0005249 voltage-gated potassium channel activity; TAS:ProtInc. # GO_function GO:0005251 delayed rectifier potassium channel activity; IBA:GO_Central. # GO_function GO:0005267 potassium channel activity; TAS:ProtInc. # GO_process GO:0006813 potassium ion transport; TAS:ProtInc. # GO_process GO:0007268 chemical synaptic transmission; TAS:ProtInc. # GO_process GO:0060081 membrane hyperpolarization; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # Genevisible O43525 HS # HGNC HGNC:6297 KCNQ3 # InterPro IPR003937 K_chnl_volt-dep_KCNQ # InterPro IPR003948 K_chnl_volt-dep_KCNQ3 # InterPro IPR005821 Ion_trans_dom # InterPro IPR013821 K_chnl_volt-dep_KCNQ_C # InterPro IPR020969 Ankyrin-G_BS # InterPro IPR028325 VG_K_chnl # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00806 [Nervous system disease] Benign familial infantile epilepsy (BFIE) # KEGG_Pathway ko04725 Cholinergic synapse # MIM 121201 phenotype # MIM 602232 gene # MISCELLANEOUS Mutagenesis experiments were carried out in Xenopus oocytes by coexpression of either KCNQ3(mut) and KCNQ2 at the ratio of 1:1, or of KCNQ3(mut), KCNQ3(wt) and KCNQ2 at the ratio of 1 1:2, to mimic the situation in a heterozygous patient with BFNC2 disease. # Organism KCNQ3_HUMAN Homo sapiens (Human) # Orphanet 1949 Benign familial neonatal seizures # Orphanet 306 Benign familial infantile epilepsy # Orphanet 307 Juvenile myoclonic epilepsy # PANTHER PTHR11537 PTHR11537; 3 # PANTHER PTHR11537:SF5 PTHR11537:SF5; 3 # PDB 5J03 X-ray; 2.00 A; A=354-409 # PRINTS PR00169 KCHANNEL # PRINTS PR01459 KCNQCHANNEL # PRINTS PR01462 KCNQ3CHANNEL # Pfam PF00520 Ion_trans # Pfam PF03520 KCNQ_channel # Pfam PF11956 KCNQC3-Ank-G_bd # Proteomes UP000005640 Chromosome 8 # Reactome R-HSA-1296072 Voltage gated Potassium channels # Reactome R-HSA-445095 Interaction between L1 and Ankyrins # RecName KCNQ3_HUMAN Potassium voltage-gated channel subfamily KQT member 3 # RefSeq NP_001191753 NM_001204824.1. [O43525-2] # RefSeq NP_004510 NM_004519.3. [O43525-1] # SEQUENCE CAUTION Sequence=AAI28577.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAI28577.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the potassium channel family. KQT (TC 1.A.1.15) subfamily. Kv7.3/KCNQ3 sub-subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION KCNQ3_HUMAN Membrane; Multi-pass membrane protein. # SUBUNIT KCNQ3_HUMAN Heteromultimer with KCNQ2 or KCNQ5. May associate with KCNE2. # TCDB 1.A.1.15 the voltage-gated ion channel (vic) superfamily # TISSUE SPECIFICITY KCNQ3_HUMAN Predominantly expressed in brain. # UCSC uc003yti human. [O43525-1] # eggNOG COG1226 LUCA # eggNOG KOG1419 Eukaryota BLAST swissprot:KCNQ3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCNQ3_HUMAN BioCyc ZFISH:G66-33340-MONOMER http://biocyc.org/getid?id=ZFISH:G66-33340-MONOMER COXPRESdb 3786 http://coxpresdb.jp/data/gene/3786.shtml CleanEx HS_KCNQ3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNQ3 DOI 10.1002/1531-8249(200006)47:6<822::AID-ANA19>3.3.CO http://dx.doi.org/10.1002/1531-8249(200006)47:6<822::AID-ANA19>3.3.CO DOI 10.1016/S0014-5793(00)01918-9 http://dx.doi.org/10.1016/S0014-5793(00)01918-9 DOI 10.1016/S0304-3940(00)00866-1 http://dx.doi.org/10.1016/S0304-3940(00)00866-1 DOI 10.1038/25367 http://dx.doi.org/10.1038/25367 DOI 10.1038/nature04406 http://dx.doi.org/10.1038/nature04406 DOI 10.1038/ng0198-53 http://dx.doi.org/10.1038/ng0198-53 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1038/sj.bjp.0703861 http://dx.doi.org/10.1038/sj.bjp.0703861 DOI 10.1073/pnas.0509122102 http://dx.doi.org/10.1073/pnas.0509122102 DOI 10.1074/jbc.273.31.19419 http://dx.doi.org/10.1074/jbc.273.31.19419 DOI 10.1074/jbc.275.18.13343 http://dx.doi.org/10.1074/jbc.275.18.13343 DOI 10.1093/brain/awg286 http://dx.doi.org/10.1093/brain/awg286 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1469-7793.2000.t01-2-00349.x http://dx.doi.org/10.1111/j.1469-7793.2000.t01-2-00349.x DOI 10.1111/j.1528-1167.2012.03516.x http://dx.doi.org/10.1111/j.1528-1167.2012.03516.x DrugBank DB00321 http://www.drugbank.ca/drugs/DB00321 DrugBank DB00586 http://www.drugbank.ca/drugs/DB00586 DrugBank DB00939 http://www.drugbank.ca/drugs/DB00939 DrugBank DB04953 http://www.drugbank.ca/drugs/DB04953 EMBL AC018540 http://www.ebi.ac.uk/ena/data/view/AC018540 EMBL AC123776 http://www.ebi.ac.uk/ena/data/view/AC123776 EMBL AC131042 http://www.ebi.ac.uk/ena/data/view/AC131042 EMBL AC136373 http://www.ebi.ac.uk/ena/data/view/AC136373 EMBL AF033347 http://www.ebi.ac.uk/ena/data/view/AF033347 EMBL AF071478 http://www.ebi.ac.uk/ena/data/view/AF071478 EMBL AF071479 http://www.ebi.ac.uk/ena/data/view/AF071479 EMBL AF071480 http://www.ebi.ac.uk/ena/data/view/AF071480 EMBL AF071481 http://www.ebi.ac.uk/ena/data/view/AF071481 EMBL AF071482 http://www.ebi.ac.uk/ena/data/view/AF071482 EMBL AF071483 http://www.ebi.ac.uk/ena/data/view/AF071483 EMBL AF071484 http://www.ebi.ac.uk/ena/data/view/AF071484 EMBL AF071485 http://www.ebi.ac.uk/ena/data/view/AF071485 EMBL AF071486 http://www.ebi.ac.uk/ena/data/view/AF071486 EMBL AF071487 http://www.ebi.ac.uk/ena/data/view/AF071487 EMBL AF071488 http://www.ebi.ac.uk/ena/data/view/AF071488 EMBL AF071489 http://www.ebi.ac.uk/ena/data/view/AF071489 EMBL AF071490 http://www.ebi.ac.uk/ena/data/view/AF071490 EMBL AF071491 http://www.ebi.ac.uk/ena/data/view/AF071491 EMBL AK296293 http://www.ebi.ac.uk/ena/data/view/AK296293 EMBL BC128576 http://www.ebi.ac.uk/ena/data/view/BC128576 Ensembl ENST00000388996 http://www.ensembl.org/id/ENST00000388996 Ensembl ENST00000521134 http://www.ensembl.org/id/ENST00000521134 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0008076 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008076 GO_component GO:0009986 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009986 GO_component GO:0033268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033268 GO_component GO:0043194 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043194 GO_function GO:0005249 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005249 GO_function GO:0005251 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005251 GO_function GO:0005267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005267 GO_process GO:0006813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006813 GO_process GO:0007268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007268 GO_process GO:0060081 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060081 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GeneCards KCNQ3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNQ3 GeneID 3786 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=3786 GeneTree ENSGT00550000074513 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074513 HGNC HGNC:6297 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6297 HOGENOM HOG000220839 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000220839&db=HOGENOM6 HOVERGEN HBG059014 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG059014&db=HOVERGEN InParanoid O43525 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O43525 InterPro IPR003937 http://www.ebi.ac.uk/interpro/entry/IPR003937 InterPro IPR003948 http://www.ebi.ac.uk/interpro/entry/IPR003948 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR013821 http://www.ebi.ac.uk/interpro/entry/IPR013821 InterPro IPR020969 http://www.ebi.ac.uk/interpro/entry/IPR020969 InterPro IPR028325 http://www.ebi.ac.uk/interpro/entry/IPR028325 Jabion 3786 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=3786 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00806 http://www.genome.jp/dbget-bin/www_bget?H00806 KEGG_Gene hsa:3786 http://www.genome.jp/dbget-bin/www_bget?hsa:3786 KEGG_Orthology KO:K04928 http://www.genome.jp/dbget-bin/www_bget?KO:K04928 KEGG_Pathway ko04725 http://www.genome.jp/kegg-bin/show_pathway?ko04725 MIM 121201 http://www.ncbi.nlm.nih.gov/omim/121201 MIM 602232 http://www.ncbi.nlm.nih.gov/omim/602232 OMA FFAHDPV http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=FFAHDPV Orphanet 1949 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1949 Orphanet 306 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=306 Orphanet 307 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=307 OrthoDB EOG091G02ZT http://cegg.unige.ch/orthodb/results?searchtext=EOG091G02ZT PANTHER PTHR11537 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11537 PANTHER PTHR11537:SF5 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11537:SF5 PDB 5J03 http://www.ebi.ac.uk/pdbe-srv/view/entry/5J03 PDBsum 5J03 http://www.ebi.ac.uk/pdbsum/5J03 PRINTS PR00169 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00169 PRINTS PR01459 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01459 PRINTS PR01462 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01462 PSORT swissprot:KCNQ3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCNQ3_HUMAN PSORT-B swissprot:KCNQ3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCNQ3_HUMAN PSORT2 swissprot:KCNQ3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCNQ3_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF03520 http://pfam.xfam.org/family/PF03520 Pfam PF11956 http://pfam.xfam.org/family/PF11956 PharmGKB PA30075 http://www.pharmgkb.org/do/serve?objId=PA30075&objCls=Gene Phobius swissprot:KCNQ3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCNQ3_HUMAN PhylomeDB O43525 http://phylomedb.org/?seqid=O43525 ProteinModelPortal O43525 http://www.proteinmodelportal.org/query/uniprot/O43525 PubMed 10479678 http://www.ncbi.nlm.nih.gov/pubmed/10479678 PubMed 10684873 http://www.ncbi.nlm.nih.gov/pubmed/10684873 PubMed 10713399 http://www.ncbi.nlm.nih.gov/pubmed/10713399 PubMed 10713961 http://www.ncbi.nlm.nih.gov/pubmed/10713961 PubMed 10788442 http://www.ncbi.nlm.nih.gov/pubmed/10788442 PubMed 10852552 http://www.ncbi.nlm.nih.gov/pubmed/10852552 PubMed 10908292 http://www.ncbi.nlm.nih.gov/pubmed/10908292 PubMed 10953053 http://www.ncbi.nlm.nih.gov/pubmed/10953053 PubMed 11034315 http://www.ncbi.nlm.nih.gov/pubmed/11034315 PubMed 11159685 http://www.ncbi.nlm.nih.gov/pubmed/11159685 PubMed 14534157 http://www.ncbi.nlm.nih.gov/pubmed/14534157 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16319223 http://www.ncbi.nlm.nih.gov/pubmed/16319223 PubMed 16421571 http://www.ncbi.nlm.nih.gov/pubmed/16421571 PubMed 22612257 http://www.ncbi.nlm.nih.gov/pubmed/22612257 PubMed 9425900 http://www.ncbi.nlm.nih.gov/pubmed/9425900 PubMed 9677360 http://www.ncbi.nlm.nih.gov/pubmed/9677360 PubMed 9872318 http://www.ncbi.nlm.nih.gov/pubmed/9872318 Reactome R-HSA-1296072 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1296072 Reactome R-HSA-445095 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-445095 RefSeq NP_001191753 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001191753 RefSeq NP_004510 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004510 SMR O43525 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=O43525 STRING 9606.ENSP00000373648 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000373648&targetmode=cogs TCDB 1.A.1.15 http://www.tcdb.org/search/result.php?tc=1.A.1.15 UCSC uc003yti http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003yti&org=rat UniGene Hs.374023 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.374023 UniProtKB KCNQ3_HUMAN http://www.uniprot.org/uniprot/KCNQ3_HUMAN UniProtKB-AC O43525 http://www.uniprot.org/uniprot/O43525 charge swissprot:KCNQ3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCNQ3_HUMAN eggNOG COG1226 http://eggnogapi.embl.de/nog_data/html/tree/COG1226 eggNOG KOG1419 http://eggnogapi.embl.de/nog_data/html/tree/KOG1419 epestfind swissprot:KCNQ3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCNQ3_HUMAN garnier swissprot:KCNQ3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCNQ3_HUMAN helixturnhelix swissprot:KCNQ3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCNQ3_HUMAN hmoment swissprot:KCNQ3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCNQ3_HUMAN iep swissprot:KCNQ3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCNQ3_HUMAN inforesidue swissprot:KCNQ3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCNQ3_HUMAN neXtProt NX_O43525 http://www.nextprot.org/db/entry/NX_O43525 octanol swissprot:KCNQ3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCNQ3_HUMAN pepcoil swissprot:KCNQ3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCNQ3_HUMAN pepdigest swissprot:KCNQ3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCNQ3_HUMAN pepinfo swissprot:KCNQ3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCNQ3_HUMAN pepnet swissprot:KCNQ3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCNQ3_HUMAN pepstats swissprot:KCNQ3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCNQ3_HUMAN pepwheel swissprot:KCNQ3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCNQ3_HUMAN pepwindow swissprot:KCNQ3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCNQ3_HUMAN sigcleave swissprot:KCNQ3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCNQ3_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS SCNNA_HUMAN Event=Alternative splicing; Named isoforms=6; Name=1; Synonyms=Alpha ENAC1; IsoId=P37088-1; Sequence=Displayed; Name=2; Synonyms=Alpha ENAC2; IsoId=P37088-2; Sequence=VSP_007719; Name=3; Synonyms=Alpha ENACx; IsoId=P37088-3; Sequence=VSP_007720, VSP_007721; Note=Does not give rise to amiloride-sensitive ion current. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=4; Synonyms=Alpha ENAC-19; IsoId=P37088-4; Sequence=VSP_007722; Note=Amiloride-sensitive ion current is nearly abolished.; Name=5; Synonyms=Alpha ENAC+22; IsoId=P37088-5; Sequence=VSP_007723; Note=Does not give rise to amiloride-sensitive ion current.; Name=6; IsoId=P37088-6; Sequence=VSP_043667; Note=No experimental confirmation available.; # AltName SCNNA_HUMAN Alpha-NaCH # AltName SCNNA_HUMAN Epithelial Na(+) channel subunit alpha # AltName SCNNA_HUMAN Nonvoltage-gated sodium channel 1 subunit alpha # AltName SCNNA_HUMAN SCNEA # BioGrid 112241 21 # CCDS CCDS53738 -. [P37088-2] # CCDS CCDS53739 -. [P37088-6] # CCDS CCDS8543 -. [P37088-1] # ChiTaRS SCNN1A human # DISEASE SCNNA_HUMAN Bronchiectasis with or without elevated sweat chloride 2 (BESC2) [MIM 613021] A debilitating respiratory disease characterized by chronic, abnormal dilatation of the bronchi and other cystic fibrosis-like symptoms in the absence of known causes of bronchiectasis (cystic fibrosis, autoimmune diseases, ciliary dyskinesia, common variable immunodeficiency, foreign body obstruction). Clinical features include sub-normal lung function, sinopulmonary infections, chronic productive cough, excessive sputum production, and elevated sweat chloride in some cases. {ECO 0000269|PubMed 19462466}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE SCNNA_HUMAN Pseudohypoaldosteronism 1, autosomal recessive (PHA1B) [MIM 264350] A rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. PHA1B is a severe form involving multiple organ systems, and characterized by an often fulminant presentation in the neonatal period with dehydration, hyponatremia, hyperkalemia, metabolic acidosis, failure to thrive and weight loss. {ECO 0000269|PubMed 10586178, ECO 0000269|PubMed 15853823, ECO 0000269|PubMed 18634878}. Note=The disease is caused by mutations affecting the gene represented in this entry. The degree of channel function impairment differentially affects the renin-aldosterone system and urinary Na/K ratios, resulting in distinct genotype-phenotype relationships in PHA1 patients. Loss-of-function mutations are associated with a severe clinical course and age-dependent hyperactivation of the renin-aldosterone system. This feature is not observed in patients with missense mutations that reduce but do not eliminate channel function. Markedly reduced channel activity results in impaired linear growth and delayed puberty (PubMed 18634878). {ECO 0000269|PubMed 18634878}. # DrugBank DB00384 Triamterene # DrugBank DB00594 Amiloride # ENZYME REGULATION Activated by WNK1, WNK2, WNK3 and WNK4. {ECO:0000250|UniProtKB Q61180}. # Ensembl ENST00000228916 ENSP00000228916; ENSG00000111319. [P37088-1] # Ensembl ENST00000360168 ENSP00000353292; ENSG00000111319. [P37088-2] # Ensembl ENST00000543768 ENSP00000438739; ENSG00000111319. [P37088-6] # ExpressionAtlas P37088 baseline and differential # FUNCTION SCNNA_HUMAN Sodium permeable non-voltage-sensitive ion channel inhibited by the diuretic amiloride. Mediates the electrodiffusion of the luminal sodium (and water, which follows osmotically) through the apical membrane of epithelial cells. Plays an essential role in electrolyte and blood pressure homeostasis, but also in airway surface liquid homeostasis, which is important for proper clearance of mucus. Controls the reabsorption of sodium in kidney, colon, lung and sweat glands. Also plays a role in taste perception. {ECO 0000269|PubMed 24124190, ECO 0000269|PubMed 8278374}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IDA:UniProtKB. # GO_component GO:0016324 apical plasma membrane; IDA:UniProtKB. # GO_component GO:0031514 motile cilium; IDA:UniProtKB. # GO_component GO:0034706 sodium channel complex; IDA:UniProtKB. # GO_component GO:0060170 ciliary membrane; IDA:UniProtKB. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0015280 ligand-gated sodium channel activity; IEA:InterPro. # GO_function GO:0050699 WW domain binding; IPI:BHF-UCL. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0035725 sodium ion transmembrane transport; IDA:UniProtKB. # GO_process GO:0050891 multicellular organismal water homeostasis; IDA:UniProtKB. # GO_process GO:0050896 response to stimulus; IEA:UniProtKB-KW. # GO_process GO:0050909 sensory perception of taste; IEA:UniProtKB-KW. # GO_process GO:0055078 sodium ion homeostasis; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0005929 cilium # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0050877 neurological system process # GOslim_process GO:0055085 transmembrane transport # Genevisible P37088 HS # HGNC HGNC:10599 SCNN1A # INDUCTION By aldosterone. {ECO:0000269|PubMed 11266509}. # INTERACTION SCNNA_HUMAN P51170 SCNN1G; NbExp=3; IntAct=EBI-7845444, EBI-2547354; # IntAct P37088 3 # InterPro IPR001873 Na+channel_ASC # InterPro IPR004724 ENaC # InterPro IPR020903 Na+channel_ASC_CS # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00243 [Endocrine disease; Urinary system disease] Pseudohypoaldosteronism type II (Gordon's syndrome) # KEGG_Disease H00892 [Respiratory disease] Bronchiectasis with or without elevated sweat chloride # KEGG_Pathway ko04742 Taste transduction # KEGG_Pathway ko04960 Aldosterone-regulated sodium reabsorption # MIM 264350 phenotype # MIM 600228 gene # MIM 613021 phenotype # Organism SCNNA_HUMAN Homo sapiens (Human) # Orphanet 171876 Generalized pseudohypoaldosteronism type 1 # Orphanet 60033 Idiopathic bronchiectasis # PANTHER PTHR11690 PTHR11690 # PDB 2M3O NMR; -; P=638-648 # PIR A49585 A49585 # PRINTS PR01078 AMINACHANNEL # PROSITE PS01206 ASC # PTM SCNNA_HUMAN ENaC cleavage by furin, and subsequently by prostasin (PRSS8), leads to a stepwise increase in the open probability of the channel as a result of release of the alpha and gamma subunit inhibitory tracts, respectively. Interaction of ENaC subunit SCNN1B with BPIFA1 protects ENaC against proteolytic activation. {ECO 0000269|PubMed 18650438}. # PTM SCNNA_HUMAN N-glycosylated. {ECO 0000250|UniProtKB P37089}. # PTM SCNNA_HUMAN Ubiquitinated; this targets individual subunits for endocytosis and proteasome-mediated degradation. {ECO 0000250|UniProtKB P37089}. # Pfam PF00858 ASC # Proteomes UP000005640 Chromosome 12 # Reactome R-HSA-2672351 Stimuli-sensing channels # RecName SCNNA_HUMAN Amiloride-sensitive sodium channel subunit alpha # RefSeq NP_001029 NM_001038.5. [P37088-1] # RefSeq NP_001153047 NM_001159575.1. [P37088-6] # RefSeq NP_001153048 NM_001159576.1. [P37088-2] # SEQUENCE CAUTION Sequence=AAH06526.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family. SCNN1A subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION SCNNA_HUMAN Apical cell membrane {ECO 0000269|PubMed 22207244}; Multi-pass membrane protein {ECO 0000250|UniProtKB P37089}. Cell projection, cilium {ECO 0000269|PubMed 22207244}. Note=In the oviduct and bronchus, located on cilia in multi-ciliated cells. In endometrial non- ciliated epithelial cells, restricted to apical surfaces. {ECO 0000269|PubMed 22207244, ECO 0000269|PubMed 24124190}. # SUBUNIT SCNNA_HUMAN Heterotrimer containing an alpha/SCNN1A, a beta/SCNN1B and a gamma/SCNN1G subunit. An additional delta/SCNN1D subunit exists only in some organisms and can replace the alpha/SCNN1A subunit to form an alternative channel with specific properties (By similarity). Interacts with NEDD4 (via WW domains) (PubMed 11244092, PubMed 11696533, PubMed 12167593, PubMed 23665454). Interacts with NEDD4L (via WW domains) (PubMed 11244092, PubMed 11696533). Interacts with WWP1 (via WW domains) (PubMed 9169421). Interacts with WWP2 (via WW domains) (PubMed 12167593, PubMed 9169421). Interacts with the full length immature form of PCSK9 (pro-PCSK9) (PubMed 22493497). {ECO 0000250|UniProtKB Q61180, ECO 0000269|PubMed 11244092, ECO 0000269|PubMed 11696533, ECO 0000269|PubMed 12167593, ECO 0000269|PubMed 22493497, ECO 0000269|PubMed 23665454, ECO 0000269|PubMed 9169421}. # TCDB 1.A.6.1 the epithelial na(+) channel (enac) family # TIGRFAMs TIGR00859 ENaC # TISSUE SPECIFICITY SCNNA_HUMAN Expressed in the female reproductive tract, from the fimbrial end of the fallopian tube to the endometrium (at protein level). Expressed in kidney (at protein level). In the respiratory tract, expressed in the bronchial epithelium (at protein level). Highly expressed in lung. Detected at intermediate levels in pancreas and liver, and at low levels in heart and placenta. Isoform 1 and isoform 2 predominate in all tissues. Expression of isoform 3, isoform 4 and isoform 5 is very low or not detectable, except in lung and heart. {ECO 0000269|PubMed 22207244, ECO 0000269|PubMed 9575806}. # UCSC uc001qnw human. [P37088-1] # eggNOG ENOG410ZNFK LUCA # eggNOG KOG4294 Eukaryota BLAST swissprot:SCNNA_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SCNNA_HUMAN BioCyc ZFISH:ENSG00000111319-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000111319-MONOMER COXPRESdb 6337 http://coxpresdb.jp/data/gene/6337.shtml CleanEx HS_SCNN1A http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SCNN1A DOI 10.1002/humu.21011 http://dx.doi.org/10.1002/humu.21011 DOI 10.1007/s00418-011-0904-1 http://dx.doi.org/10.1007/s00418-011-0904-1 DOI 10.1007/s004390050743 http://dx.doi.org/10.1007/s004390050743 DOI 10.1016/S0022-3476(99)70094-6 http://dx.doi.org/10.1016/S0022-3476(99)70094-6 DOI 10.1016/j.bbapap.2013.04.031 http://dx.doi.org/10.1016/j.bbapap.2013.04.031 DOI 10.1016/j.gene.2015.12.061 http://dx.doi.org/10.1016/j.gene.2015.12.061 DOI 10.1016/j.jcf.2007.07.012 http://dx.doi.org/10.1016/j.jcf.2007.07.012 DOI 10.1016/j.jsbmb.2008.06.013 http://dx.doi.org/10.1016/j.jsbmb.2008.06.013 DOI 10.1038/nature04569 http://dx.doi.org/10.1038/nature04569 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.91.1.247 http://dx.doi.org/10.1073/pnas.91.1.247 DOI 10.1074/jbc.272.23.14611 http://dx.doi.org/10.1074/jbc.272.23.14611 DOI 10.1074/jbc.C000906200 http://dx.doi.org/10.1074/jbc.C000906200 DOI 10.1074/jbc.C100623200 http://dx.doi.org/10.1074/jbc.C100623200 DOI 10.1074/jbc.M112.363382 http://dx.doi.org/10.1074/jbc.M112.363382 DOI 10.1074/jbc.M803931200 http://dx.doi.org/10.1074/jbc.M803931200 DOI 10.1093/hmg/ddi374 http://dx.doi.org/10.1093/hmg/ddi374 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1365-2265.2005.02255.x http://dx.doi.org/10.1111/j.1365-2265.2005.02255.x DOI 10.1152/ajplung.00103.2013 http://dx.doi.org/10.1152/ajplung.00103.2013 DOI 10.1152/ajprenal.00080.2002 http://dx.doi.org/10.1152/ajprenal.00080.2002 DOI 10.1161/01.HYP.34.4.631 http://dx.doi.org/10.1161/01.HYP.34.4.631 DOI 10.1203/00006450-199908000-00014 http://dx.doi.org/10.1203/00006450-199908000-00014 DOI 10.1210/jc.84.7.2434 http://dx.doi.org/10.1210/jc.84.7.2434 DOI 10.1210/jcem-73-5-936 http://dx.doi.org/10.1210/jcem-73-5-936 DOI 10.1210/jcem.87.7.8674 http://dx.doi.org/10.1210/jcem.87.7.8674 DOI 10.1210/me.15.4.575 http://dx.doi.org/10.1210/me.15.4.575 DOI 10.1373/clinchem.2004.046276 http://dx.doi.org/10.1373/clinchem.2004.046276 DrugBank DB00384 http://www.drugbank.ca/drugs/DB00384 DrugBank DB00594 http://www.drugbank.ca/drugs/DB00594 EMBL AC005840 http://www.ebi.ac.uk/ena/data/view/AC005840 EMBL AC006057 http://www.ebi.ac.uk/ena/data/view/AC006057 EMBL AF060910 http://www.ebi.ac.uk/ena/data/view/AF060910 EMBL AF060911 http://www.ebi.ac.uk/ena/data/view/AF060911 EMBL AF060912 http://www.ebi.ac.uk/ena/data/view/AF060912 EMBL AF060913 http://www.ebi.ac.uk/ena/data/view/AF060913 EMBL AK304379 http://www.ebi.ac.uk/ena/data/view/AK304379 EMBL BC006526 http://www.ebi.ac.uk/ena/data/view/BC006526 EMBL BC062613 http://www.ebi.ac.uk/ena/data/view/BC062613 EMBL CH471116 http://www.ebi.ac.uk/ena/data/view/CH471116 EMBL DQ402522 http://www.ebi.ac.uk/ena/data/view/DQ402522 EMBL FJ515830 http://www.ebi.ac.uk/ena/data/view/FJ515830 EMBL L29007 http://www.ebi.ac.uk/ena/data/view/L29007 EMBL U81961 http://www.ebi.ac.uk/ena/data/view/U81961 EMBL U81961 http://www.ebi.ac.uk/ena/data/view/U81961 EMBL X76180 http://www.ebi.ac.uk/ena/data/view/X76180 EMBL Z92978 http://www.ebi.ac.uk/ena/data/view/Z92978 EMBL Z92979 http://www.ebi.ac.uk/ena/data/view/Z92979 EMBL Z92980 http://www.ebi.ac.uk/ena/data/view/Z92980 EMBL Z92981 http://www.ebi.ac.uk/ena/data/view/Z92981 Ensembl ENST00000228916 http://www.ensembl.org/id/ENST00000228916 Ensembl ENST00000360168 http://www.ensembl.org/id/ENST00000360168 Ensembl ENST00000543768 http://www.ensembl.org/id/ENST00000543768 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:0031514 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031514 GO_component GO:0034706 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034706 GO_component GO:0060170 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060170 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0015280 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015280 GO_function GO:0050699 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050699 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0035725 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035725 GO_process GO:0050891 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050891 GO_process GO:0050896 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050896 GO_process GO:0050909 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050909 GO_process GO:0055078 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055078 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0005929 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005929 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SCNN1A http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SCNN1A GeneID 6337 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6337 GeneTree ENSGT00760000119120 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119120 HGNC HGNC:10599 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10599 HOGENOM HOG000236286 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000236286&db=HOGENOM6 HOVERGEN HBG058435 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG058435&db=HOVERGEN HPA HPA012743 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA012743 HPA HPA012939 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA012939 InParanoid P37088 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P37088 IntAct P37088 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P37088* InterPro IPR001873 http://www.ebi.ac.uk/interpro/entry/IPR001873 InterPro IPR004724 http://www.ebi.ac.uk/interpro/entry/IPR004724 InterPro IPR020903 http://www.ebi.ac.uk/interpro/entry/IPR020903 Jabion 6337 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6337 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00243 http://www.genome.jp/dbget-bin/www_bget?H00243 KEGG_Disease H00892 http://www.genome.jp/dbget-bin/www_bget?H00892 KEGG_Gene hsa:6337 http://www.genome.jp/dbget-bin/www_bget?hsa:6337 KEGG_Orthology KO:K04824 http://www.genome.jp/dbget-bin/www_bget?KO:K04824 KEGG_Pathway ko04742 http://www.genome.jp/kegg-bin/show_pathway?ko04742 KEGG_Pathway ko04960 http://www.genome.jp/kegg-bin/show_pathway?ko04960 MIM 264350 http://www.ncbi.nlm.nih.gov/omim/264350 MIM 600228 http://www.ncbi.nlm.nih.gov/omim/600228 MIM 613021 http://www.ncbi.nlm.nih.gov/omim/613021 MINT MINT-198663 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-198663 OMA APPPNSH http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=APPPNSH Orphanet 171876 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=171876 Orphanet 60033 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=60033 OrthoDB EOG091G0KW6 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0KW6 PANTHER PTHR11690 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11690 PDB 2M3O http://www.ebi.ac.uk/pdbe-srv/view/entry/2M3O PDBsum 2M3O http://www.ebi.ac.uk/pdbsum/2M3O PRINTS PR01078 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01078 PROSITE PS01206 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS01206 PSORT swissprot:SCNNA_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SCNNA_HUMAN PSORT-B swissprot:SCNNA_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SCNNA_HUMAN PSORT2 swissprot:SCNNA_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SCNNA_HUMAN Pfam PF00858 http://pfam.xfam.org/family/PF00858 PharmGKB PA305 http://www.pharmgkb.org/do/serve?objId=PA305&objCls=Gene Phobius swissprot:SCNNA_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SCNNA_HUMAN PhylomeDB P37088 http://phylomedb.org/?seqid=P37088 ProteinModelPortal P37088 http://www.proteinmodelportal.org/query/uniprot/P37088 PubMed 10404817 http://www.ncbi.nlm.nih.gov/pubmed/10404817 PubMed 10447117 http://www.ncbi.nlm.nih.gov/pubmed/10447117 PubMed 10523338 http://www.ncbi.nlm.nih.gov/pubmed/10523338 PubMed 10586178 http://www.ncbi.nlm.nih.gov/pubmed/10586178 PubMed 11244092 http://www.ncbi.nlm.nih.gov/pubmed/11244092 PubMed 11266509 http://www.ncbi.nlm.nih.gov/pubmed/11266509 PubMed 11696533 http://www.ncbi.nlm.nih.gov/pubmed/11696533 PubMed 12107247 http://www.ncbi.nlm.nih.gov/pubmed/12107247 PubMed 12167593 http://www.ncbi.nlm.nih.gov/pubmed/12167593 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15734793 http://www.ncbi.nlm.nih.gov/pubmed/15734793 PubMed 15853823 http://www.ncbi.nlm.nih.gov/pubmed/15853823 PubMed 16207733 http://www.ncbi.nlm.nih.gov/pubmed/16207733 PubMed 16541075 http://www.ncbi.nlm.nih.gov/pubmed/16541075 PubMed 17766193 http://www.ncbi.nlm.nih.gov/pubmed/17766193 PubMed 18634878 http://www.ncbi.nlm.nih.gov/pubmed/18634878 PubMed 18650438 http://www.ncbi.nlm.nih.gov/pubmed/18650438 PubMed 1939532 http://www.ncbi.nlm.nih.gov/pubmed/1939532 PubMed 19462466 http://www.ncbi.nlm.nih.gov/pubmed/19462466 PubMed 22207244 http://www.ncbi.nlm.nih.gov/pubmed/22207244 PubMed 22493497 http://www.ncbi.nlm.nih.gov/pubmed/22493497 PubMed 23547933 http://www.ncbi.nlm.nih.gov/pubmed/23547933 PubMed 23665454 http://www.ncbi.nlm.nih.gov/pubmed/23665454 PubMed 24124190 http://www.ncbi.nlm.nih.gov/pubmed/24124190 PubMed 26772908 http://www.ncbi.nlm.nih.gov/pubmed/26772908 PubMed 8023962 http://www.ncbi.nlm.nih.gov/pubmed/8023962 PubMed 8278374 http://www.ncbi.nlm.nih.gov/pubmed/8278374 PubMed 9169421 http://www.ncbi.nlm.nih.gov/pubmed/9169421 PubMed 9575806 http://www.ncbi.nlm.nih.gov/pubmed/9575806 PubMed 9612219 http://www.ncbi.nlm.nih.gov/pubmed/9612219 PubMed 9654208 http://www.ncbi.nlm.nih.gov/pubmed/9654208 Reactome R-HSA-2672351 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2672351 RefSeq NP_001029 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001029 RefSeq NP_001153047 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001153047 RefSeq NP_001153048 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001153048 SMR P37088 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P37088 STRING 9606.ENSP00000353292 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000353292&targetmode=cogs TCDB 1.A.6.1 http://www.tcdb.org/search/result.php?tc=1.A.6.1 TIGRFAMs TIGR00859 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00859 UCSC uc001qnw http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001qnw&org=rat UniGene Hs.591047 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.591047 UniProtKB SCNNA_HUMAN http://www.uniprot.org/uniprot/SCNNA_HUMAN UniProtKB-AC P37088 http://www.uniprot.org/uniprot/P37088 charge swissprot:SCNNA_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SCNNA_HUMAN eggNOG ENOG410ZNFK http://eggnogapi.embl.de/nog_data/html/tree/ENOG410ZNFK eggNOG KOG4294 http://eggnogapi.embl.de/nog_data/html/tree/KOG4294 epestfind swissprot:SCNNA_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SCNNA_HUMAN garnier swissprot:SCNNA_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SCNNA_HUMAN helixturnhelix swissprot:SCNNA_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SCNNA_HUMAN hmoment swissprot:SCNNA_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SCNNA_HUMAN iep swissprot:SCNNA_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SCNNA_HUMAN inforesidue swissprot:SCNNA_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SCNNA_HUMAN neXtProt NX_P37088 http://www.nextprot.org/db/entry/NX_P37088 octanol swissprot:SCNNA_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SCNNA_HUMAN pepcoil swissprot:SCNNA_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SCNNA_HUMAN pepdigest swissprot:SCNNA_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SCNNA_HUMAN pepinfo swissprot:SCNNA_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SCNNA_HUMAN pepnet swissprot:SCNNA_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SCNNA_HUMAN pepstats swissprot:SCNNA_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SCNNA_HUMAN pepwheel swissprot:SCNNA_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SCNNA_HUMAN pepwindow swissprot:SCNNA_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SCNNA_HUMAN sigcleave swissprot:SCNNA_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SCNNA_HUMAN ## Database ID URL or Descriptions # AltName GBRD_HUMAN GABA(A) receptor subunit delta # BioGrid 108837 15 # DISEASE GBRD_HUMAN Epilepsy, idiopathic generalized 10 (EIG10) [MIM 613060] A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. # DISEASE GBRD_HUMAN Generalized epilepsy with febrile seizures plus 5 (GEFS+5) [MIM 613060] A rare autosomal dominant, familial condition with incomplete penetrance and large intrafamilial variability. Patients display febrile seizures persisting sometimes beyond the age of 6 years and/or a variety of afebrile seizure types. This disease combines febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity. {ECO 0000269|PubMed 15115768}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. # DISEASE GBRD_HUMAN Juvenile myoclonic epilepsy 7 (EJM7) [MIM 613060] A subtype of idiopathic generalized epilepsy. Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. # DrugBank DB00186 Lorazepam # DrugBank DB00189 Ethchlorvynol # DrugBank DB00228 Enflurane # DrugBank DB00231 Temazepam # DrugBank DB00237 Butabarbital # DrugBank DB00241 Butalbital # DrugBank DB00273 Topiramate # DrugBank DB00292 Etomidate # DrugBank DB00306 Talbutal # DrugBank DB00312 Pentobarbital # DrugBank DB00334 Olanzapine # DrugBank DB00349 Clobazam # DrugBank DB00371 Meprobamate # DrugBank DB00402 Eszopiclone # DrugBank DB00404 Alprazolam # DrugBank DB00475 Chlordiazepoxide # DrugBank DB00543 Amoxapine # DrugBank DB00546 Adinazolam # DrugBank DB00628 Clorazepate # DrugBank DB00659 Acamprosate # DrugBank DB00683 Midazolam # DrugBank DB00690 Flurazepam # DrugBank DB00753 Isoflurane # DrugBank DB00794 Primidone # DrugBank DB00801 Halazepam # DrugBank DB00818 Propofol # DrugBank DB00829 Diazepam # DrugBank DB00842 Oxazepam # DrugBank DB00897 Triazolam # DrugBank DB00898 Ethanol # DrugBank DB01028 Methoxyflurane # DrugBank DB01049 Ergoloid mesylate # DrugBank DB01068 Clonazepam # DrugBank DB01107 Methyprylon # DrugBank DB01159 Halothane # DrugBank DB01189 Desflurane # DrugBank DB01205 Flumazenil # DrugBank DB01215 Estazolam # DrugBank DB01236 Sevoflurane # DrugBank DB01437 Glutethimide # DrugBank DB01558 Bromazepam # DrugBank DB01559 Clotiazepam # DrugBank DB01567 Fludiazepam # DrugBank DB01587 Ketazolam # DrugBank DB01588 Prazepam # DrugBank DB01589 Quazepam # DrugBank DB01594 Cinolazepam # DrugBank DB01595 Nitrazepam # Ensembl ENST00000378585 ENSP00000367848; ENSG00000187730 # FUNCTION GBRD_HUMAN GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0034707 chloride channel complex; IEA:UniProtKB-KW. # GO_component GO:0045211 postsynaptic membrane; IEA:UniProtKB-SubCell. # GO_component GO:1902711 GABA-A receptor complex; IBA:GO_Central. # GO_function GO:0004890 GABA-A receptor activity; TAS:ProtInc. # GO_function GO:0005230 extracellular ligand-gated ion channel activity; IEA:InterPro. # GO_function GO:0005254 chloride channel activity; IEA:UniProtKB-KW. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0007165 signal transduction; TAS:ProtInc. # GO_process GO:0007268 chemical synaptic transmission; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0007267 cell-cell signaling # Gene3D 2.70.170.10 -; 1. # Genevisible O14764 HS # HGNC HGNC:4084 GABRD # INTERACTION GBRD_HUMAN Q7Z3S9 NOTCH2NL; NbExp=3; IntAct=EBI-744352, EBI-945833; Q9UMX0 UBQLN1; NbExp=4; IntAct=EBI-744352, EBI-741480; Q9UMX0-2 UBQLN1; NbExp=3; IntAct=EBI-744352, EBI-10173939; # IntAct O14764 4 # InterPro IPR006028 GABAA/Glycine_rcpt # InterPro IPR006029 Neurotrans-gated_channel_TM # InterPro IPR006201 Neur_channel # InterPro IPR006202 Neur_chan_lig-bd # InterPro IPR008098 GABAAd_rcpt # InterPro IPR018000 Neurotransmitter_ion_chnl_CS # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00783 [Nervous system disease; Epilepsy] Dravet syndrome/ Severe myoclonic epilepsy in infancy (SMEI) # KEGG_Pathway ko04080 Neuroactive ligand-receptor interaction # KEGG_Pathway ko04723 Retrograde endocannabinoid signaling # KEGG_Pathway ko04727 GABAergic synapse # KEGG_Pathway ko05032 Morphine addiction # KEGG_Pathway ko05033 Nicotine addiction # MIM 137163 gene # MIM 613060 phenotype # Organism GBRD_HUMAN Homo sapiens (Human) # Orphanet 1606 1p36 deletion syndrome # Orphanet 307 Juvenile myoclonic epilepsy # Orphanet 36387 Generalized epilepsy with febrile seizures-plus # PANTHER PTHR18945 PTHR18945; 2 # PRINTS PR00252 NRIONCHANNEL # PRINTS PR00253 GABAARECEPTR # PRINTS PR01722 GABAARDELTA # PROSITE PS00236 NEUROTR_ION_CHANNEL # Pfam PF02931 Neur_chan_LBD # Pfam PF02932 Neur_chan_memb # Proteomes UP000005640 Chromosome 1 # RecName GBRD_HUMAN Gamma-aminobutyric acid receptor subunit delta # RefSeq NP_000806 NM_000815.4 # SIMILARITY Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRD sub-subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION GBRD_HUMAN Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. # SUBUNIT Generally pentameric. There are five types of GABA(A) receptor chains alpha, beta, gamma, delta, and rho. # SUPFAM SSF63712 SSF63712 # SUPFAM SSF90112 SSF90112 # TIGRFAMs TIGR00860 LIC # UCSC uc001aip human # eggNOG ENOG410XPWH LUCA # eggNOG KOG3643 Eukaryota BLAST swissprot:GBRD_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:GBRD_HUMAN BioCyc ZFISH:G66-33669-MONOMER http://biocyc.org/getid?id=ZFISH:G66-33669-MONOMER COXPRESdb 2563 http://coxpresdb.jp/data/gene/2563.shtml CleanEx HS_GABRD http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_GABRD DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1093/hmg/ddh146 http://dx.doi.org/10.1093/hmg/ddh146 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DrugBank DB00186 http://www.drugbank.ca/drugs/DB00186 DrugBank DB00189 http://www.drugbank.ca/drugs/DB00189 DrugBank DB00228 http://www.drugbank.ca/drugs/DB00228 DrugBank DB00231 http://www.drugbank.ca/drugs/DB00231 DrugBank DB00237 http://www.drugbank.ca/drugs/DB00237 DrugBank DB00241 http://www.drugbank.ca/drugs/DB00241 DrugBank DB00273 http://www.drugbank.ca/drugs/DB00273 DrugBank DB00292 http://www.drugbank.ca/drugs/DB00292 DrugBank DB00306 http://www.drugbank.ca/drugs/DB00306 DrugBank DB00312 http://www.drugbank.ca/drugs/DB00312 DrugBank DB00334 http://www.drugbank.ca/drugs/DB00334 DrugBank DB00349 http://www.drugbank.ca/drugs/DB00349 DrugBank DB00371 http://www.drugbank.ca/drugs/DB00371 DrugBank DB00402 http://www.drugbank.ca/drugs/DB00402 DrugBank DB00404 http://www.drugbank.ca/drugs/DB00404 DrugBank DB00475 http://www.drugbank.ca/drugs/DB00475 DrugBank DB00543 http://www.drugbank.ca/drugs/DB00543 DrugBank DB00546 http://www.drugbank.ca/drugs/DB00546 DrugBank DB00628 http://www.drugbank.ca/drugs/DB00628 DrugBank DB00659 http://www.drugbank.ca/drugs/DB00659 DrugBank DB00683 http://www.drugbank.ca/drugs/DB00683 DrugBank DB00690 http://www.drugbank.ca/drugs/DB00690 DrugBank DB00753 http://www.drugbank.ca/drugs/DB00753 DrugBank DB00794 http://www.drugbank.ca/drugs/DB00794 DrugBank DB00801 http://www.drugbank.ca/drugs/DB00801 DrugBank DB00818 http://www.drugbank.ca/drugs/DB00818 DrugBank DB00829 http://www.drugbank.ca/drugs/DB00829 DrugBank DB00842 http://www.drugbank.ca/drugs/DB00842 DrugBank DB00897 http://www.drugbank.ca/drugs/DB00897 DrugBank DB00898 http://www.drugbank.ca/drugs/DB00898 DrugBank DB01028 http://www.drugbank.ca/drugs/DB01028 DrugBank DB01049 http://www.drugbank.ca/drugs/DB01049 DrugBank DB01068 http://www.drugbank.ca/drugs/DB01068 DrugBank DB01107 http://www.drugbank.ca/drugs/DB01107 DrugBank DB01159 http://www.drugbank.ca/drugs/DB01159 DrugBank DB01189 http://www.drugbank.ca/drugs/DB01189 DrugBank DB01205 http://www.drugbank.ca/drugs/DB01205 DrugBank DB01215 http://www.drugbank.ca/drugs/DB01215 DrugBank DB01236 http://www.drugbank.ca/drugs/DB01236 DrugBank DB01437 http://www.drugbank.ca/drugs/DB01437 DrugBank DB01558 http://www.drugbank.ca/drugs/DB01558 DrugBank DB01559 http://www.drugbank.ca/drugs/DB01559 DrugBank DB01567 http://www.drugbank.ca/drugs/DB01567 DrugBank DB01587 http://www.drugbank.ca/drugs/DB01587 DrugBank DB01588 http://www.drugbank.ca/drugs/DB01588 DrugBank DB01589 http://www.drugbank.ca/drugs/DB01589 DrugBank DB01594 http://www.drugbank.ca/drugs/DB01594 DrugBank DB01595 http://www.drugbank.ca/drugs/DB01595 EMBL AF016917 http://www.ebi.ac.uk/ena/data/view/AF016917 EMBL AL391845 http://www.ebi.ac.uk/ena/data/view/AL391845 EMBL BC033801 http://www.ebi.ac.uk/ena/data/view/BC033801 Ensembl ENST00000378585 http://www.ensembl.org/id/ENST00000378585 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0034707 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034707 GO_component GO:0045211 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045211 GO_component GO:1902711 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902711 GO_function GO:0004890 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004890 GO_function GO:0005230 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005230 GO_function GO:0005254 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005254 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GO_process GO:0007268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007268 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 Gene3D 2.70.170.10 http://www.cathdb.info/version/latest/superfamily/2.70.170.10 GeneCards GABRD http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=GABRD GeneID 2563 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=2563 GeneTree ENSGT00760000118821 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118821 HGNC HGNC:4084 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:4084 HOGENOM HOG000231335 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231335&db=HOGENOM6 HOVERGEN HBG051707 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG051707&db=HOVERGEN HPA HPA044371 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA044371 InParanoid O14764 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O14764 IntAct O14764 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O14764* InterPro IPR006028 http://www.ebi.ac.uk/interpro/entry/IPR006028 InterPro IPR006029 http://www.ebi.ac.uk/interpro/entry/IPR006029 InterPro IPR006201 http://www.ebi.ac.uk/interpro/entry/IPR006201 InterPro IPR006202 http://www.ebi.ac.uk/interpro/entry/IPR006202 InterPro IPR008098 http://www.ebi.ac.uk/interpro/entry/IPR008098 InterPro IPR018000 http://www.ebi.ac.uk/interpro/entry/IPR018000 Jabion 2563 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=2563 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00783 http://www.genome.jp/dbget-bin/www_bget?H00783 KEGG_Gene hsa:2563 http://www.genome.jp/dbget-bin/www_bget?hsa:2563 KEGG_Orthology KO:K05184 http://www.genome.jp/dbget-bin/www_bget?KO:K05184 KEGG_Pathway ko04080 http://www.genome.jp/kegg-bin/show_pathway?ko04080 KEGG_Pathway ko04723 http://www.genome.jp/kegg-bin/show_pathway?ko04723 KEGG_Pathway ko04727 http://www.genome.jp/kegg-bin/show_pathway?ko04727 KEGG_Pathway ko05032 http://www.genome.jp/kegg-bin/show_pathway?ko05032 KEGG_Pathway ko05033 http://www.genome.jp/kegg-bin/show_pathway?ko05033 MIM 137163 http://www.ncbi.nlm.nih.gov/omim/137163 MIM 613060 http://www.ncbi.nlm.nih.gov/omim/613060 MINT MINT-1461496 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1461496 OMA IVYHWSE http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=IVYHWSE Orphanet 1606 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1606 Orphanet 307 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=307 Orphanet 36387 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=36387 OrthoDB EOG091G0805 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0805 PANTHER PTHR18945 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR18945 PRINTS PR00252 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00252 PRINTS PR00253 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00253 PRINTS PR01722 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01722 PROSITE PS00236 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00236 PSORT swissprot:GBRD_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:GBRD_HUMAN PSORT-B swissprot:GBRD_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:GBRD_HUMAN PSORT2 swissprot:GBRD_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:GBRD_HUMAN Pfam PF02931 http://pfam.xfam.org/family/PF02931 Pfam PF02932 http://pfam.xfam.org/family/PF02932 PharmGKB PA28498 http://www.pharmgkb.org/do/serve?objId=PA28498&objCls=Gene Phobius swissprot:GBRD_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:GBRD_HUMAN PhylomeDB O14764 http://phylomedb.org/?seqid=O14764 ProteinModelPortal O14764 http://www.proteinmodelportal.org/query/uniprot/O14764 PubMed 15115768 http://www.ncbi.nlm.nih.gov/pubmed/15115768 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 RefSeq NP_000806 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000806 SMR O14764 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=O14764 STRING 9606.ENSP00000367848 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000367848&targetmode=cogs SUPFAM SSF63712 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF63712 SUPFAM SSF90112 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF90112 TIGRFAMs TIGR00860 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00860 UCSC uc001aip http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001aip&org=rat UniGene Hs.113882 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.113882 UniProtKB GBRD_HUMAN http://www.uniprot.org/uniprot/GBRD_HUMAN UniProtKB-AC O14764 http://www.uniprot.org/uniprot/O14764 charge swissprot:GBRD_HUMAN http://rest.g-language.org/emboss/charge/swissprot:GBRD_HUMAN eggNOG ENOG410XPWH http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XPWH eggNOG KOG3643 http://eggnogapi.embl.de/nog_data/html/tree/KOG3643 epestfind swissprot:GBRD_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:GBRD_HUMAN garnier swissprot:GBRD_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:GBRD_HUMAN helixturnhelix swissprot:GBRD_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:GBRD_HUMAN hmoment swissprot:GBRD_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:GBRD_HUMAN iep swissprot:GBRD_HUMAN http://rest.g-language.org/emboss/iep/swissprot:GBRD_HUMAN inforesidue swissprot:GBRD_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:GBRD_HUMAN neXtProt NX_O14764 http://www.nextprot.org/db/entry/NX_O14764 octanol swissprot:GBRD_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:GBRD_HUMAN pepcoil swissprot:GBRD_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:GBRD_HUMAN pepdigest swissprot:GBRD_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:GBRD_HUMAN pepinfo swissprot:GBRD_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:GBRD_HUMAN pepnet swissprot:GBRD_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:GBRD_HUMAN pepstats swissprot:GBRD_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:GBRD_HUMAN pepwheel swissprot:GBRD_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:GBRD_HUMAN pepwindow swissprot:GBRD_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:GBRD_HUMAN sigcleave swissprot:GBRD_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:GBRD_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS KCNT1_HUMAN Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q5JUK3-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q5JUK3-2; Sequence=VSP_015470, VSP_015471; Note=No experimental confirmation available.; Name=3; IsoId=Q5JUK3-3; Sequence=VSP_015470, VSP_015471, VSP_044476; Note=No experimental confirmation available.; Name=4; IsoId=Q5JUK3-4; Sequence=VSP_055700, VSP_055701, VSP_015471; Note=No experimental confirmation available.; # AltName KCNT1_HUMAN KCa4.1 # CCDS CCDS35175 -. [Q5JUK3-3] # CCDS CCDS65188 -. [Q5JUK3-4] # ChiTaRS KCNT1 human # DISEASE KCNT1_HUMAN Epilepsy, nocturnal frontal lobe, 5 (ENFL5) [MIM 615005] An autosomal dominant focal epilepsy syndrome characterized by childhood onset of clusters of motor seizures during sleep. Some patients may develop behavioral or psychiatric manifestations and/or intellectual disability. The phenotype is more severe than observed in other genetic forms of nocturnal frontal lobe epilepsy. {ECO 0000269|PubMed 23086396}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE KCNT1_HUMAN Epileptic encephalopathy, early infantile, 14 (EIEE14) [MIM 614959] A rare epileptic encephalopathy of infancy that combines pharmacoresistant seizures with developmental delay. This severe neurologic disorder is characterized by onset in the first 6 months of life of refractory focal seizures and arrest of psychomotor development. Ictal EEG shows discharges that arise randomly from various areas of both hemispheres and migrate from one brain region to another. {ECO 0000269|PubMed 23086397}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000371757 ENSP00000360822; ENSG00000107147. [Q5JUK3-3] # Ensembl ENST00000487664 ENSP00000417851; ENSG00000107147. [Q5JUK3-2] # Ensembl ENST00000488444 ENSP00000419007; ENSG00000107147. [Q5JUK3-1] # Ensembl ENST00000628528 ENSP00000486374; ENSG00000107147. [Q5JUK3-4] # ExpressionAtlas Q5JUK3 baseline and differential # FUNCTION KCNT1_HUMAN Outwardly rectifying potassium channel subunit that may coassemble with other Slo-type channel subunits. Activated by high intracellular sodium or chloride levels. Activated upon stimulation of G-protein coupled receptors, such as CHRM1 and GRIA1. May be regulated by calcium in the absence of sodium ions (in vitro) (By similarity). {ECO 0000250}. # GO_component GO:0008076 voltage-gated potassium channel complex; IBA:GO_Central. # GO_function GO:0005249 voltage-gated potassium channel activity; IBA:GO_Central. # GO_function GO:0015269 calcium-activated potassium channel activity; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # Gene3D 3.40.50.720 -; 2. # Genevisible Q5JUK3 HS # HGNC HGNC:18865 KCNT1 # InterPro IPR003929 K_chnl_Ca-activ_BK_asu # InterPro IPR013099 K_chnl_dom # InterPro IPR016040 NAD(P)-bd_dom # KEGG_Brite ko04040 Ion channels # MIM 608167 gene # MIM 614959 phenotype # MIM 615005 phenotype # Organism KCNT1_HUMAN Homo sapiens (Human) # Orphanet 293181 Malignant migrating partial seizures of infancy # Orphanet 98784 Autosomal dominant nocturnal frontal lobe epilepsy # PTM KCNT1_HUMAN Phosphorylated by protein kinase C. Phosphorylation of the C- terminal domain increases channel activity (By similarity). {ECO 0000250}. # Pfam PF03493 BK_channel_a # Pfam PF07885 Ion_trans_2 # Proteomes UP000005640 Chromosome 9 # RecName KCNT1_HUMAN Potassium channel subfamily T member 1 # RefSeq NP_001258932 NM_001272003.1. [Q5JUK3-4] # RefSeq NP_065873 NM_020822.2. [Q5JUK3-3] # SEQUENCE CAUTION Sequence=BAA92660.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the potassium channel family. Calcium- activated (TC 1.A.1.3) subfamily. KCa4.1/KCNT1 sub-subfamily. {ECO 0000305}. # SIMILARITY Contains 1 RCK N-terminal domain. {ECO 0000305}. # SUBCELLULAR LOCATION KCNT1_HUMAN Cell membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. # SUBUNIT KCNT1_HUMAN Interacts (via C-terminus) with FMR1; this interaction alters gating properties of KCNT1 (PubMed 20512134). Interacts with CRBN via its cytoplasmic C-terminus (By similarity). {ECO 0000250|UniProtKB Q9Z258, ECO 0000269|PubMed 20512134}. # TISSUE SPECIFICITY Highest expression in liver, brain and spinal cord. Lowest expression in skeletal muscle. {ECO:0000269|PubMed 10718198}. # UCSC uc011mdq human. [Q5JUK3-1] # eggNOG ENOG410XSMA LUCA # eggNOG KOG3193 Eukaryota BLAST swissprot:KCNT1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCNT1_HUMAN COXPRESdb 57582 http://coxpresdb.jp/data/gene/57582.shtml CleanEx HS_KCNT1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNT1 DOI 10.1038/nature02465 http://dx.doi.org/10.1038/nature02465 DOI 10.1038/ng.2440 http://dx.doi.org/10.1038/ng.2440 DOI 10.1038/ng.2441 http://dx.doi.org/10.1038/ng.2441 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1038/nn.2563 http://dx.doi.org/10.1038/nn.2563 DOI 10.1093/dnares/7.1.65 http://dx.doi.org/10.1093/dnares/7.1.65 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AB037843 http://www.ebi.ac.uk/ena/data/view/AB037843 EMBL AK127272 http://www.ebi.ac.uk/ena/data/view/AK127272 EMBL AL158822 http://www.ebi.ac.uk/ena/data/view/AL158822 EMBL BC136618 http://www.ebi.ac.uk/ena/data/view/BC136618 EMBL BC171770 http://www.ebi.ac.uk/ena/data/view/BC171770 EMBL CH471090 http://www.ebi.ac.uk/ena/data/view/CH471090 Ensembl ENST00000371757 http://www.ensembl.org/id/ENST00000371757 Ensembl ENST00000487664 http://www.ensembl.org/id/ENST00000487664 Ensembl ENST00000488444 http://www.ensembl.org/id/ENST00000488444 Ensembl ENST00000628528 http://www.ensembl.org/id/ENST00000628528 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0008076 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008076 GO_function GO:0005249 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005249 GO_function GO:0015269 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015269 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 Gene3D 3.40.50.720 http://www.cathdb.info/version/latest/superfamily/3.40.50.720 GeneCards KCNT1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNT1 GeneID 57582 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=57582 GeneTree ENSGT00530000063026 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000063026 HGNC HGNC:18865 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:18865 HOGENOM HOG000231460 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231460&db=HOGENOM6 HOVERGEN HBG055190 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG055190&db=HOVERGEN HPA HPA059880 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA059880 InParanoid Q5JUK3 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q5JUK3 InterPro IPR003929 http://www.ebi.ac.uk/interpro/entry/IPR003929 InterPro IPR013099 http://www.ebi.ac.uk/interpro/entry/IPR013099 InterPro IPR016040 http://www.ebi.ac.uk/interpro/entry/IPR016040 Jabion 57582 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=57582 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:57582 http://www.genome.jp/dbget-bin/www_bget?hsa:57582 KEGG_Orthology KO:K04946 http://www.genome.jp/dbget-bin/www_bget?KO:K04946 MIM 608167 http://www.ncbi.nlm.nih.gov/omim/608167 MIM 614959 http://www.ncbi.nlm.nih.gov/omim/614959 MIM 615005 http://www.ncbi.nlm.nih.gov/omim/615005 OMA RTANEYH http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=RTANEYH Orphanet 293181 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=293181 Orphanet 98784 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=98784 OrthoDB EOG091G011O http://cegg.unige.ch/orthodb/results?searchtext=EOG091G011O PSORT swissprot:KCNT1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCNT1_HUMAN PSORT-B swissprot:KCNT1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCNT1_HUMAN PSORT2 swissprot:KCNT1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCNT1_HUMAN Pfam PF03493 http://pfam.xfam.org/family/PF03493 Pfam PF07885 http://pfam.xfam.org/family/PF07885 PharmGKB PA38725 http://www.pharmgkb.org/do/serve?objId=PA38725&objCls=Gene Phobius swissprot:KCNT1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCNT1_HUMAN PhylomeDB Q5JUK3 http://phylomedb.org/?seqid=Q5JUK3 ProteinModelPortal Q5JUK3 http://www.proteinmodelportal.org/query/uniprot/Q5JUK3 PubMed 10718198 http://www.ncbi.nlm.nih.gov/pubmed/10718198 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15164053 http://www.ncbi.nlm.nih.gov/pubmed/15164053 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 20512134 http://www.ncbi.nlm.nih.gov/pubmed/20512134 PubMed 23086396 http://www.ncbi.nlm.nih.gov/pubmed/23086396 PubMed 23086397 http://www.ncbi.nlm.nih.gov/pubmed/23086397 RefSeq NP_001258932 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001258932 RefSeq NP_065873 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_065873 STRING 9606.ENSP00000360822 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000360822&targetmode=cogs UCSC uc011mdq http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc011mdq&org=rat UniGene Hs.104950 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.104950 UniProtKB KCNT1_HUMAN http://www.uniprot.org/uniprot/KCNT1_HUMAN UniProtKB-AC Q5JUK3 http://www.uniprot.org/uniprot/Q5JUK3 charge swissprot:KCNT1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCNT1_HUMAN eggNOG ENOG410XSMA http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XSMA eggNOG KOG3193 http://eggnogapi.embl.de/nog_data/html/tree/KOG3193 epestfind swissprot:KCNT1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCNT1_HUMAN garnier swissprot:KCNT1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCNT1_HUMAN helixturnhelix swissprot:KCNT1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCNT1_HUMAN hmoment swissprot:KCNT1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCNT1_HUMAN iep swissprot:KCNT1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCNT1_HUMAN inforesidue swissprot:KCNT1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCNT1_HUMAN neXtProt NX_Q5JUK3 http://www.nextprot.org/db/entry/NX_Q5JUK3 octanol swissprot:KCNT1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCNT1_HUMAN pepcoil swissprot:KCNT1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCNT1_HUMAN pepdigest swissprot:KCNT1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCNT1_HUMAN pepinfo swissprot:KCNT1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCNT1_HUMAN pepnet swissprot:KCNT1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCNT1_HUMAN pepstats swissprot:KCNT1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCNT1_HUMAN pepwheel swissprot:KCNT1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCNT1_HUMAN pepwindow swissprot:KCNT1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCNT1_HUMAN sigcleave swissprot:KCNT1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCNT1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P38606-1; Sequence=Displayed; Name=2; IsoId=P38606-2; Sequence=VSP_056408; Note=No experimental confirmation available. Initiator Met-1 is removed. Contains a N-acetylalanine at position 2. {ECO:0000244|PubMed 22814378}; # AltName VATA_HUMAN V-ATPase 69 kDa subunit # AltName VATA_HUMAN Vacuolar ATPase isoform VA68 # AltName VATA_HUMAN Vacuolar proton pump subunit alpha # BioGrid 107007 99 # CATALYTIC ACTIVITY VATA_HUMAN ATP + H(2)O + H(+)(In) = ADP + phosphate + H(+)(Out). # CCDS CCDS2976 -. [P38606-1] # ChiTaRS ATP6V1A human # DrugBank DB00630 Alendronate # DrugBank DB01077 Etidronic acid # DrugBank DB01133 Tiludronate # Ensembl ENST00000273398 ENSP00000273398; ENSG00000114573. [P38606-1] # ExpressionAtlas P38606 baseline and differential # FUNCTION VATA_HUMAN Catalytic subunit of the peripheral V1 complex of vacuolar ATPase. V-ATPase vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. # GO_component GO:0005739 mitochondrion; IEA:Ensembl. # GO_component GO:0005765 lysosomal membrane; IDA:UniProtKB. # GO_component GO:0005829 cytosol; ISS:UniProtKB. # GO_component GO:0005886 plasma membrane; ISS:UniProtKB. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0005902 microvillus; IEA:Ensembl. # GO_component GO:0016324 apical plasma membrane; IEA:Ensembl. # GO_component GO:0016469 proton-transporting two-sector ATPase complex; TAS:ProtInc. # GO_component GO:0033180 proton-transporting V-type ATPase, V1 domain; IEA:InterPro. # GO_component GO:0043209 myelin sheath; IEA:Ensembl. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0005524 ATP binding; IEA:UniProtKB-KW. # GO_function GO:0046961 proton-transporting ATPase activity, rotational mechanism; IBA:GO_Central. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0008286 insulin receptor signaling pathway; TAS:Reactome. # GO_process GO:0015991 ATP hydrolysis coupled proton transport; IEA:InterPro. # GO_process GO:0016241 regulation of macroautophagy; NAS:ParkinsonsUK-UCL. # GO_process GO:0033572 transferrin transport; TAS:Reactome. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0046034 ATP metabolic process; IEA:InterPro. # GO_process GO:0090383 phagosome acidification; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005739 mitochondrion # GOslim_component GO:0005829 cytosol # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0044281 small molecule metabolic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.10.1140.10 -; 1. # Gene3D 3.40.50.300 -; 2. # Genevisible P38606 HS # HAMAP MF_00309 ATP_synth_A_arch # HGNC HGNC:851 ATP6V1A # IntAct P38606 86 # InterPro IPR000194 ATPase_F1/V1/A1_a/bsu_nucl-bd # InterPro IPR004100 ATPase_F1/V1/A1_a/bsu_N # InterPro IPR005725 ATPase_V1-cplx_asu # InterPro IPR020003 ATPase_a/bsu_AS # InterPro IPR022878 V-ATPase_asu # InterPro IPR024034 ATPase_F1/V1_bsu_C # InterPro IPR027417 P-loop_NTPase # InterPro IPR031686 ATP-synth_a_Xtn # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Brite ko01000 Enzymes # KEGG_Pathway ko00190 Oxidative phosphorylation # KEGG_Pathway ko04145 Phagosome # KEGG_Pathway ko04721 Synaptic vesicle cycle # KEGG_Pathway ko04966 Collecting duct acid secretion # KEGG_Pathway ko05110 Vibrio cholerae infection # KEGG_Pathway ko05120 Epithelial cell signaling in Helicobacter pylori infection # KEGG_Pathway ko05323 Rheumatoid arthritis # MIM 607027 gene # Organism VATA_HUMAN Homo sapiens (Human) # PIR B46091 B46091 # PROSITE PS00152 ATPASE_ALPHA_BETA # Pfam PF00006 ATP-synt_ab # Pfam PF02874 ATP-synt_ab_N # Pfam PF16886 ATP-synt_ab_Xtn # Proteomes UP000005640 Chromosome 3 # Reactome R-HSA-1222556 ROS, RNS production in response to bacteria # Reactome R-HSA-77387 Insulin receptor recycling # Reactome R-HSA-917977 Transferrin endocytosis and recycling # Reactome R-HSA-983712 Ion channel transport # RecName VATA_HUMAN V-type proton ATPase catalytic subunit A # RefSeq NP_001681 NM_001690.3. [P38606-1] # SIMILARITY Belongs to the ATPase alpha/beta chains family. {ECO 0000305}. # SUBUNIT V-ATPase is a heteromultimeric enzyme composed of a peripheral catalytic V1 complex (main components: subunits A, B, C, D, E, and F) attached to an integral membrane V0 proton pore complex (main component the proteolipid protein). # SUPFAM SSF50615 SSF50615 # SUPFAM SSF52540 SSF52540 # TCDB 3.A.2.2 the h(+)- or na(+)-translocating f-type, v-type and a-type atpase (f-atpase) superfamily # TIGRFAMs TIGR01042 V-ATPase_V1_A # TISSUE SPECIFICITY VATA_HUMAN Present in all tissues analyzed. # UCSC uc003eao human. [P38606-1] # eggNOG COG1155 LUCA # eggNOG KOG1352 Eukaryota BLAST swissprot:VATA_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:VATA_HUMAN BioCyc MetaCyc:HS03781-MONOMER http://biocyc.org/getid?id=MetaCyc:HS03781-MONOMER BioCyc ZFISH:HS03781-MONOMER http://biocyc.org/getid?id=ZFISH:HS03781-MONOMER COG COG1155 http://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=COG1155 COXPRESdb 523 http://coxpresdb.jp/data/gene/523.shtml CleanEx HS_ATP6V1A http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ATP6V1A DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature04728 http://dx.doi.org/10.1038/nature04728 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.1210303109 http://dx.doi.org/10.1073/pnas.1210303109 DOI 10.1073/pnas.160270997 http://dx.doi.org/10.1073/pnas.160270997 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DrugBank DB00630 http://www.drugbank.ca/drugs/DB00630 DrugBank DB01077 http://www.drugbank.ca/drugs/DB01077 DrugBank DB01133 http://www.drugbank.ca/drugs/DB01133 EC_number EC:3.6.3.14 http://www.genome.jp/dbget-bin/www_bget?EC:3.6.3.14 EMBL AC079944 http://www.ebi.ac.uk/ena/data/view/AC079944 EMBL AC108693 http://www.ebi.ac.uk/ena/data/view/AC108693 EMBL AF113129 http://www.ebi.ac.uk/ena/data/view/AF113129 EMBL AK293804 http://www.ebi.ac.uk/ena/data/view/AK293804 EMBL AK314779 http://www.ebi.ac.uk/ena/data/view/AK314779 EMBL BC013138 http://www.ebi.ac.uk/ena/data/view/BC013138 EMBL BT006672 http://www.ebi.ac.uk/ena/data/view/BT006672 EMBL CH471052 http://www.ebi.ac.uk/ena/data/view/CH471052 EMBL CH471052 http://www.ebi.ac.uk/ena/data/view/CH471052 EMBL L09235 http://www.ebi.ac.uk/ena/data/view/L09235 ENZYME 3.6.3.14 http://enzyme.expasy.org/EC/3.6.3.14 Ensembl ENST00000273398 http://www.ensembl.org/id/ENST00000273398 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005765 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005765 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0005902 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005902 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:0016469 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016469 GO_component GO:0033180 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033180 GO_component GO:0043209 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043209 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0046961 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046961 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0008286 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008286 GO_process GO:0015991 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015991 GO_process GO:0016241 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016241 GO_process GO:0033572 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033572 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0046034 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046034 GO_process GO:0090383 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090383 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.10.1140.10 http://www.cathdb.info/version/latest/superfamily/1.10.1140.10 Gene3D 3.40.50.300 http://www.cathdb.info/version/latest/superfamily/3.40.50.300 GeneCards ATP6V1A http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ATP6V1A GeneID 523 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=523 GeneTree ENSGT00550000074787 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074787 HAMAP MF_00309 http://hamap.expasy.org/unirule/MF_00309 HGNC HGNC:851 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:851 HOGENOM HOG000161057 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000161057&db=HOGENOM6 HOVERGEN HBG053351 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG053351&db=HOVERGEN HPA CAB006910 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB006910 HPA HPA035083 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA035083 HPA HPA035084 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA035084 InParanoid P38606 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P38606 IntAct P38606 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P38606* IntEnz 3.6.3.14 http://www.ebi.ac.uk/intenz/query?cmd=Search&q=3.6.3.14 InterPro IPR000194 http://www.ebi.ac.uk/interpro/entry/IPR000194 InterPro IPR004100 http://www.ebi.ac.uk/interpro/entry/IPR004100 InterPro IPR005725 http://www.ebi.ac.uk/interpro/entry/IPR005725 InterPro IPR020003 http://www.ebi.ac.uk/interpro/entry/IPR020003 InterPro IPR022878 http://www.ebi.ac.uk/interpro/entry/IPR022878 InterPro IPR024034 http://www.ebi.ac.uk/interpro/entry/IPR024034 InterPro IPR027417 http://www.ebi.ac.uk/interpro/entry/IPR027417 InterPro IPR031686 http://www.ebi.ac.uk/interpro/entry/IPR031686 Jabion 523 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=523 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00002 http://www.genome.jp/dbget-bin/www_bget?ko00002 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Gene hsa:523 http://www.genome.jp/dbget-bin/www_bget?hsa:523 KEGG_Orthology KO:K02145 http://www.genome.jp/dbget-bin/www_bget?KO:K02145 KEGG_Pathway ko00190 http://www.genome.jp/kegg-bin/show_pathway?ko00190 KEGG_Pathway ko04145 http://www.genome.jp/kegg-bin/show_pathway?ko04145 KEGG_Pathway ko04721 http://www.genome.jp/kegg-bin/show_pathway?ko04721 KEGG_Pathway ko04966 http://www.genome.jp/kegg-bin/show_pathway?ko04966 KEGG_Pathway ko05110 http://www.genome.jp/kegg-bin/show_pathway?ko05110 KEGG_Pathway ko05120 http://www.genome.jp/kegg-bin/show_pathway?ko05120 KEGG_Pathway ko05323 http://www.genome.jp/kegg-bin/show_pathway?ko05323 MIM 607027 http://www.ncbi.nlm.nih.gov/omim/607027 MINT MINT-224589 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-224589 OMA YSPYDRF http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=YSPYDRF OrthoDB EOG091G03SR http://cegg.unige.ch/orthodb/results?searchtext=EOG091G03SR PROSITE PS00152 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00152 PSORT swissprot:VATA_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:VATA_HUMAN PSORT-B swissprot:VATA_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:VATA_HUMAN PSORT2 swissprot:VATA_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:VATA_HUMAN Pfam PF00006 http://pfam.xfam.org/family/PF00006 Pfam PF02874 http://pfam.xfam.org/family/PF02874 Pfam PF16886 http://pfam.xfam.org/family/PF16886 PharmGKB PA25152 http://www.pharmgkb.org/do/serve?objId=PA25152&objCls=Gene Phobius swissprot:VATA_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:VATA_HUMAN PhylomeDB P38606 http://phylomedb.org/?seqid=P38606 ProteinModelPortal P38606 http://www.proteinmodelportal.org/query/uniprot/P38606 PubMed 10931946 http://www.ncbi.nlm.nih.gov/pubmed/10931946 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16641997 http://www.ncbi.nlm.nih.gov/pubmed/16641997 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 22814378 http://www.ncbi.nlm.nih.gov/pubmed/22814378 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 8463241 http://www.ncbi.nlm.nih.gov/pubmed/8463241 Reactome R-HSA-1222556 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1222556 Reactome R-HSA-77387 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-77387 Reactome R-HSA-917977 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-917977 Reactome R-HSA-983712 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-983712 RefSeq NP_001681 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001681 SMR P38606 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P38606 STRING 9606.ENSP00000273398 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000273398&targetmode=cogs STRING COG1155 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=COG1155&targetmode=cogs SUPFAM SSF50615 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF50615 SUPFAM SSF52540 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52540 TCDB 3.A.2.2 http://www.tcdb.org/search/result.php?tc=3.A.2.2 TIGRFAMs TIGR01042 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01042 UCSC uc003eao http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003eao&org=rat UniGene Hs.477155 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.477155 UniProtKB VATA_HUMAN http://www.uniprot.org/uniprot/VATA_HUMAN UniProtKB-AC P38606 http://www.uniprot.org/uniprot/P38606 charge swissprot:VATA_HUMAN http://rest.g-language.org/emboss/charge/swissprot:VATA_HUMAN eggNOG COG1155 http://eggnogapi.embl.de/nog_data/html/tree/COG1155 eggNOG KOG1352 http://eggnogapi.embl.de/nog_data/html/tree/KOG1352 epestfind swissprot:VATA_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:VATA_HUMAN garnier swissprot:VATA_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:VATA_HUMAN helixturnhelix swissprot:VATA_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:VATA_HUMAN hmoment swissprot:VATA_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:VATA_HUMAN iep swissprot:VATA_HUMAN http://rest.g-language.org/emboss/iep/swissprot:VATA_HUMAN inforesidue swissprot:VATA_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:VATA_HUMAN neXtProt NX_P38606 http://www.nextprot.org/db/entry/NX_P38606 octanol swissprot:VATA_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:VATA_HUMAN pepcoil swissprot:VATA_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:VATA_HUMAN pepdigest swissprot:VATA_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:VATA_HUMAN pepinfo swissprot:VATA_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:VATA_HUMAN pepnet swissprot:VATA_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:VATA_HUMAN pepstats swissprot:VATA_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:VATA_HUMAN pepwheel swissprot:VATA_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:VATA_HUMAN pepwindow swissprot:VATA_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:VATA_HUMAN sigcleave swissprot:VATA_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:VATA_HUMAN ## Database ID URL or Descriptions # AltName ABCA1_HUMAN ATP-binding cassette transporter 1 # AltName ABCA1_HUMAN Cholesterol efflux regulatory protein # BioGrid 106537 23 # ChiTaRS ABCA1 human # DISEASE ABCA1_HUMAN High density lipoprotein deficiency 1 (HDLD1) [MIM 205400] Recessive disorder characterized by absence of high density lipoprotein (HDL) cholesterol from plasma, accumulation of cholesteryl esters, premature coronary artery disease (CAD), hepatosplenomegaly, recurrent peripheral neuropathy and progressive muscle wasting and weakness. {ECO 0000269|PubMed 10431236, ECO 0000269|PubMed 10431237, ECO 0000269|PubMed 10706591, ECO 0000269|PubMed 10938021, ECO 0000269|PubMed 11086027, ECO 0000269|PubMed 11257260, ECO 0000269|PubMed 11476961, ECO 0000269|PubMed 11476965, ECO 0000269|PubMed 11785958, ECO 0000269|PubMed 12111371, ECO 0000269|PubMed 12111381, ECO 0000269|PubMed 12407001, ECO 0000269|PubMed 14576201, ECO 0000269|PubMed 15019541, ECO 0000269|PubMed 15158913, ECO 0000269|PubMed 15262183, ECO 0000269|PubMed 15297675, ECO 0000269|PubMed 15520867}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE ABCA1_HUMAN High density lipoprotein deficiency 2 (HDLD2) [MIM 604091] Inherited as autosomal dominant trait. It is characterized by moderately low HDL cholesterol, predilection toward premature coronary artery disease (CAD) and a reduction in cellular cholesterol efflux. {ECO 0000269|PubMed 10431236, ECO 0000269|PubMed 10533863, ECO 0000269|PubMed 11086027, ECO 0000269|PubMed 12009425, ECO 0000269|PubMed 12204794, ECO 0000269|PubMed 15722566}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DOMAIN ABCA1_HUMAN Multifunctional polypeptide with two homologous halves, each containing a hydrophobic membrane-anchoring domain and an ATP binding cassette (ABC) domain. # DrugBank DB00171 Adenosine triphosphate # DrugBank DB01016 Glyburide # DrugBank DB01599 Probucol # Ensembl ENST00000374736 ENSP00000363868; ENSG00000165029 # ExpressionAtlas O95477 baseline and differential # FUNCTION ABCA1_HUMAN cAMP-dependent and sulfonylurea-sensitive anion transporter. Key gatekeeper influencing intracellular cholesterol transport. # GO_component GO:0005789 endoplasmic reticulum membrane; TAS:Reactome. # GO_component GO:0005794 Golgi apparatus; IEA:Ensembl. # GO_component GO:0005886 plasma membrane; IDA:BHF-UCL. # GO_component GO:0005887 integral component of plasma membrane; IDA:BHF-UCL. # GO_component GO:0009897 external side of plasma membrane; IEA:Ensembl. # GO_component GO:0030139 endocytic vesicle; IDA:BHF-UCL. # GO_component GO:0034364 high-density lipoprotein particle; IEA:Ensembl. # GO_component GO:0045121 membrane raft; IDA:BHF-UCL. # GO_component GO:0045335 phagocytic vesicle; IDA:BHF-UCL. # GO_component GO:0048471 perinuclear region of cytoplasm; IDA:BHF-UCL. # GO_function GO:0005102 receptor binding; IPI:BHF-UCL. # GO_function GO:0005524 ATP binding; IDA:BHF-UCL. # GO_function GO:0005543 phospholipid binding; IC:BHF-UCL. # GO_function GO:0005548 phospholipid transporter activity; IDA:BHF-UCL. # GO_function GO:0008509 anion transmembrane transporter activity; ISS:BHF-UCL. # GO_function GO:0015485 cholesterol binding; IC:BHF-UCL. # GO_function GO:0016887 ATPase activity; IDA:BHF-UCL. # GO_function GO:0017127 cholesterol transporter activity; IDA:BHF-UCL. # GO_function GO:0019905 syntaxin binding; IPI:BHF-UCL. # GO_function GO:0031267 small GTPase binding; IPI:BHF-UCL. # GO_function GO:0034185 apolipoprotein binding; IPI:BHF-UCL. # GO_function GO:0034186 apolipoprotein A-I binding; IPI:BHF-UCL. # GO_function GO:0034188 apolipoprotein A-I receptor activity; IDA:BHF-UCL. # GO_function GO:0042626 ATPase activity, coupled to transmembrane movement of substances; IBA:GO_Central. # GO_function GO:0051117 ATPase binding; IPI:BHF-UCL. # GO_function GO:0090554 phosphatidylcholine-translocating ATPase activity; IDA:BHF-UCL. # GO_function GO:0090556 phosphatidylserine-translocating ATPase activity; IDA:BHF-UCL. # GO_process GO:0002790 peptide secretion; IEA:Ensembl. # GO_process GO:0006497 protein lipidation; IEA:Ensembl. # GO_process GO:0006911 phagocytosis, engulfment; IEA:Ensembl. # GO_process GO:0007040 lysosome organization; IDA:BHF-UCL. # GO_process GO:0007186 G-protein coupled receptor signaling pathway; IMP:BHF-UCL. # GO_process GO:0007584 response to nutrient; IEA:Ensembl. # GO_process GO:0008203 cholesterol metabolic process; IDA:BHF-UCL. # GO_process GO:0010745 negative regulation of macrophage derived foam cell differentiation; TAS:BHF-UCL. # GO_process GO:0010875 positive regulation of cholesterol efflux; IMP:BHF-UCL. # GO_process GO:0010887 negative regulation of cholesterol storage; TAS:BHF-UCL. # GO_process GO:0016197 endosomal transport; IDA:BHF-UCL. # GO_process GO:0030819 positive regulation of cAMP biosynthetic process; IMP:BHF-UCL. # GO_process GO:0032367 intracellular cholesterol transport; IMP:BHF-UCL. # GO_process GO:0032489 regulation of Cdc42 protein signal transduction; IMP:BHF-UCL. # GO_process GO:0033344 cholesterol efflux; IDA:BHF-UCL. # GO_process GO:0033700 phospholipid efflux; IDA:BHF-UCL. # GO_process GO:0034380 high-density lipoprotein particle assembly; IMP:BHF-UCL. # GO_process GO:0034616 response to laminar fluid shear stress; IEP:BHF-UCL. # GO_process GO:0042157 lipoprotein metabolic process; TAS:Reactome. # GO_process GO:0042493 response to drug; IEA:Ensembl. # GO_process GO:0042632 cholesterol homeostasis; IDA:BHF-UCL. # GO_process GO:0043691 reverse cholesterol transport; IMP:BHF-UCL. # GO_process GO:0045332 phospholipid translocation; IDA:BHF-UCL. # GO_process GO:0050702 interleukin-1 beta secretion; IMP:BHF-UCL. # GO_process GO:0055091 phospholipid homeostasis; IMP:BHF-UCL. # GO_process GO:0055098 response to low-density lipoprotein particle; IEP:BHF-UCL. # GO_process GO:0060155 platelet dense granule organization; IMP:BHF-UCL. # GO_process GO:0071222 cellular response to lipopolysaccharide; IEA:Ensembl. # GO_process GO:0071300 cellular response to retinoic acid; IEA:Ensembl. # GO_process GO:0071397 cellular response to cholesterol; IEA:Ensembl. # GO_process GO:0090107 regulation of high-density lipoprotein particle assembly; TAS:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005794 Golgi apparatus # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0031410 cytoplasmic vesicle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0008289 lipid binding # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0019899 enzyme binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006464 cellular protein modification process # GOslim_process GO:0006629 lipid metabolic process # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0044281 small molecule metabolic process # GOslim_process GO:0061024 membrane organization # GOslim_process GO:0065003 macromolecular complex assembly # Gene3D 3.40.50.300 -; 2. # Genevisible O95477 HS # HGNC HGNC:29 ABCA1 # INDUCTION ABCA1_HUMAN By bacterial lipopolysaccharides (LPS). LPS regulates expression through a liver X receptor (LXR) -independent mechanism. Repressed by ZNF202. {ECO 0000269|PubMed 11279031, ECO 0000269|PubMed 12032171}. # INTERACTION ABCA1_HUMAN Q86UK0 ABCA12; NbExp=4; IntAct=EBI-784112, EBI-9541582; P02647 APOA1; NbExp=4; IntAct=EBI-784112, EBI-701692; P60953 CDC42; NbExp=2; IntAct=EBI-784112, EBI-81752; P55055 NR1H2; NbExp=2; IntAct=EBI-784112, EBI-745354; Q13424 SNTA1; NbExp=2; IntAct=EBI-784112, EBI-717191; Q13884 SNTB1; NbExp=3; IntAct=EBI-784112, EBI-295843; Q86Y82 STX12; NbExp=9; IntAct=EBI-784112, EBI-2691717; # IntAct O95477 23 # InterPro IPR003439 ABC_transporter-like # InterPro IPR003593 AAA+_ATPase # InterPro IPR017871 ABC_transporter_CS # InterPro IPR026082 ABC_A # InterPro IPR027417 P-loop_NTPase # InterPro IPR030365 ABCA1 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02000 Transporters # KEGG_Disease H00159 [Inherited metabolic disease; Nervous system disease] Tangier disease # KEGG_Disease H00930 [Inherited metabolic disease] Hypoalphalipoproteinemia # KEGG_Pathway ko02010 ABC transporters # KEGG_Pathway ko04975 Fat digestion and absorption # MIM 205400 phenotype # MIM 600046 gene+phenotype # MIM 604091 phenotype # Organism ABCA1_HUMAN Homo sapiens (Human) # Orphanet 31150 Tangier disease # Orphanet 425 Apolipoprotein A-I deficiency # PANTHER PTHR19229 PTHR19229; 6 # PANTHER PTHR19229:SF34 PTHR19229:SF34; 6 # POLYMORPHISM Genetic variations in ABCA1 define the high density lipoprotein cholesterol level quantitative trait locus 13 (HDLCQ13) [MIM:600046]. {ECO 0000269|PubMed:18354102}. # PROSITE PS00211 ABC_TRANSPORTER_1 # PROSITE PS50893 ABC_TRANSPORTER_2; 2 # PTM ABCA1_HUMAN Palmitoylation by DHHC8 is essential for membrane localization. {ECO 0000269|PubMed 19556522}. # PTM ABCA1_HUMAN Phosphorylation on Ser-2054 regulates phospholipid efflux. {ECO 0000269|PubMed 12196520}. # Pfam PF00005 ABC_tran; 2 # Proteomes UP000005640 Chromosome 9 # Reactome R-HSA-194223 HDL-mediated lipid transport # Reactome R-HSA-1989781 PPARA activates gene expression # RecName ABCA1_HUMAN ATP-binding cassette sub-family A member 1 # RefSeq NP_005493 NM_005502.3 # SEQUENCE CAUTION Sequence=AAD49849.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAA10005.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the ABC transporter superfamily. ABCA family. {ECO 0000305}. # SIMILARITY Contains 2 ABC transporter domains. {ECO:0000255|PROSITE-ProRule PRU00434}. # SMART SM00382 AAA; 2 # SUBCELLULAR LOCATION ABCA1_HUMAN Membrane {ECO 0000269|PubMed 19258317, ECO 0000269|PubMed 19556522}; Multi-pass membrane protein {ECO 0000269|PubMed 19258317, ECO 0000269|PubMed 19556522}. # SUBUNIT Interacts with MEGF10. {ECO:0000269|PubMed 17205124}. # SUPFAM SSF52540 SSF52540; 2 # TCDB 3.A.1.211.14 the atp-binding cassette (abc) superfamily # TISSUE SPECIFICITY ABCA1_HUMAN Widely expressed, but most abundant in macrophages. # UCSC uc004bcl human # WEB RESOURCE ABCA1_HUMAN Name=ABCMdb; Note=Database for mutations in ABC proteins; URL="http //abcmutations.hegelab.org/proteinDetails?uniprot_id=O95477"; # WEB RESOURCE ABCA1_HUMAN Name=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="http //shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=ABCA1"; # eggNOG COG1131 LUCA # eggNOG KOG0059 Eukaryota BLAST swissprot:ABCA1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ABCA1_HUMAN BioCyc ZFISH:ENSG00000165029-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000165029-MONOMER COXPRESdb 19 http://coxpresdb.jp/data/gene/19.shtml DIP DIP-29211N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-29211N DOI 10.1006/bbrc.1999.0406 http://dx.doi.org/10.1006/bbrc.1999.0406 DOI 10.1006/bbrc.2001.6219 http://dx.doi.org/10.1006/bbrc.2001.6219 DOI 10.1006/geno.2000.6467 http://dx.doi.org/10.1006/geno.2000.6467 DOI 10.1007/s00439-003-0943-3 http://dx.doi.org/10.1007/s00439-003-0943-3 DOI 10.1007/s100380200044 http://dx.doi.org/10.1007/s100380200044 DOI 10.1007/s100380200051 http://dx.doi.org/10.1007/s100380200051 DOI 10.1016/S0021-9150(00)00587-6 http://dx.doi.org/10.1016/S0021-9150(00)00587-6 DOI 10.1016/S0021-9150(00)00722-X http://dx.doi.org/10.1016/S0021-9150(00)00722-X DOI 10.1016/S0021-9150(02)00106-5 http://dx.doi.org/10.1016/S0021-9150(02)00106-5 DOI 10.1016/S0140-6736(99)07026-9 http://dx.doi.org/10.1016/S0140-6736(99)07026-9 DOI 10.1016/S0925-4439(01)00053-9 http://dx.doi.org/10.1016/S0925-4439(01)00053-9 DOI 10.1016/S0925-4439(01)00058-8 http://dx.doi.org/10.1016/S0925-4439(01)00058-8 DOI 10.1016/S0925-4439(02)00066-2 http://dx.doi.org/10.1016/S0925-4439(02)00066-2 DOI 10.1016/j.atherosclerosis.2003.11.009 http://dx.doi.org/10.1016/j.atherosclerosis.2003.11.009 DOI 10.1016/j.atherosclerosis.2004.02.019 http://dx.doi.org/10.1016/j.atherosclerosis.2004.02.019 DOI 10.1016/j.bbadis.2004.01.007 http://dx.doi.org/10.1016/j.bbadis.2004.01.007 DOI 10.1016/j.jacc.2005.06.066 http://dx.doi.org/10.1016/j.jacc.2005.06.066 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/pr8008012 http://dx.doi.org/10.1021/pr8008012 DOI 10.1038/11905 http://dx.doi.org/10.1038/11905 DOI 10.1038/11914 http://dx.doi.org/10.1038/11914 DOI 10.1038/11921 http://dx.doi.org/10.1038/11921 DOI 10.1038/nature02465 http://dx.doi.org/10.1038/nature02465 DOI 10.1038/nature19057 http://dx.doi.org/10.1038/nature19057 DOI 10.1056/NEJMoa0706728 http://dx.doi.org/10.1056/NEJMoa0706728 DOI 10.1073/pnas.97.14.7987 http://dx.doi.org/10.1073/pnas.97.14.7987 DOI 10.1074/jbc.M100218200 http://dx.doi.org/10.1074/jbc.M100218200 DOI 10.1074/jbc.M204923200 http://dx.doi.org/10.1074/jbc.M204923200 DOI 10.1074/jbc.M900580200 http://dx.doi.org/10.1074/jbc.M900580200 DOI 10.1093/hmg/ddg314 http://dx.doi.org/10.1093/hmg/ddg314 DOI 10.1126/science.1099870 http://dx.doi.org/10.1126/science.1099870 DOI 10.1126/science.1133427 http://dx.doi.org/10.1126/science.1133427 DOI 10.1136/jmg.40.3.163 http://dx.doi.org/10.1136/jmg.40.3.163 DOI 10.1161/01.ATV.0000078520.89539.77 http://dx.doi.org/10.1161/01.ATV.0000078520.89539.77 DOI 10.1161/01.ATV.20.8.1983 http://dx.doi.org/10.1161/01.ATV.20.8.1983 DOI 10.1161/01.CIR.103.9.1198 http://dx.doi.org/10.1161/01.CIR.103.9.1198 DOI 10.1161/01.RES.0000102957.84247.8F http://dx.doi.org/10.1161/01.RES.0000102957.84247.8F DOI 10.1161/CIRCRESAHA.108.193011 http://dx.doi.org/10.1161/CIRCRESAHA.108.193011 DOI 10.1172/JCI10727 http://dx.doi.org/10.1172/JCI10727 DOI 10.1172/JCI200420361 http://dx.doi.org/10.1172/JCI200420361 DOI 10.1182/blood-2004-05-2056 http://dx.doi.org/10.1182/blood-2004-05-2056 DOI 10.1194/jlr.D400038-JLR200 http://dx.doi.org/10.1194/jlr.D400038-JLR200 DOI 10.1371/journal.pone.0000120 http://dx.doi.org/10.1371/journal.pone.0000120 DrugBank DB00171 http://www.drugbank.ca/drugs/DB00171 DrugBank DB01016 http://www.drugbank.ca/drugs/DB01016 DrugBank DB01599 http://www.drugbank.ca/drugs/DB01599 EMBL AB055982 http://www.ebi.ac.uk/ena/data/view/AB055982 EMBL AF165281 http://www.ebi.ac.uk/ena/data/view/AF165281 EMBL AF165282 http://www.ebi.ac.uk/ena/data/view/AF165282 EMBL AF165283 http://www.ebi.ac.uk/ena/data/view/AF165283 EMBL AF165284 http://www.ebi.ac.uk/ena/data/view/AF165284 EMBL AF165285 http://www.ebi.ac.uk/ena/data/view/AF165285 EMBL AF165286 http://www.ebi.ac.uk/ena/data/view/AF165286 EMBL AF165287 http://www.ebi.ac.uk/ena/data/view/AF165287 EMBL AF165288 http://www.ebi.ac.uk/ena/data/view/AF165288 EMBL AF165289 http://www.ebi.ac.uk/ena/data/view/AF165289 EMBL AF165290 http://www.ebi.ac.uk/ena/data/view/AF165290 EMBL AF165291 http://www.ebi.ac.uk/ena/data/view/AF165291 EMBL AF165292 http://www.ebi.ac.uk/ena/data/view/AF165292 EMBL AF165293 http://www.ebi.ac.uk/ena/data/view/AF165293 EMBL AF165294 http://www.ebi.ac.uk/ena/data/view/AF165294 EMBL AF165295 http://www.ebi.ac.uk/ena/data/view/AF165295 EMBL AF165296 http://www.ebi.ac.uk/ena/data/view/AF165296 EMBL AF165297 http://www.ebi.ac.uk/ena/data/view/AF165297 EMBL AF165298 http://www.ebi.ac.uk/ena/data/view/AF165298 EMBL AF165299 http://www.ebi.ac.uk/ena/data/view/AF165299 EMBL AF165300 http://www.ebi.ac.uk/ena/data/view/AF165300 EMBL AF165301 http://www.ebi.ac.uk/ena/data/view/AF165301 EMBL AF165302 http://www.ebi.ac.uk/ena/data/view/AF165302 EMBL AF165303 http://www.ebi.ac.uk/ena/data/view/AF165303 EMBL AF165304 http://www.ebi.ac.uk/ena/data/view/AF165304 EMBL AF165305 http://www.ebi.ac.uk/ena/data/view/AF165305 EMBL AF165306 http://www.ebi.ac.uk/ena/data/view/AF165306 EMBL AF165307 http://www.ebi.ac.uk/ena/data/view/AF165307 EMBL AF165308 http://www.ebi.ac.uk/ena/data/view/AF165308 EMBL AF165309 http://www.ebi.ac.uk/ena/data/view/AF165309 EMBL AF165310 http://www.ebi.ac.uk/ena/data/view/AF165310 EMBL AF275948 http://www.ebi.ac.uk/ena/data/view/AF275948 EMBL AF285167 http://www.ebi.ac.uk/ena/data/view/AF285167 EMBL AF287262 http://www.ebi.ac.uk/ena/data/view/AF287262 EMBL AJ012376 http://www.ebi.ac.uk/ena/data/view/AJ012376 EMBL AL353685 http://www.ebi.ac.uk/ena/data/view/AL353685 EMBL AL353685 http://www.ebi.ac.uk/ena/data/view/AL353685 EMBL AL359846 http://www.ebi.ac.uk/ena/data/view/AL359846 EMBL AL359846 http://www.ebi.ac.uk/ena/data/view/AL359846 Ensembl ENST00000374736 http://www.ensembl.org/id/ENST00000374736 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005789 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005789 GO_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0009897 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009897 GO_component GO:0030139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030139 GO_component GO:0034364 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034364 GO_component GO:0045121 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045121 GO_component GO:0045335 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045335 GO_component GO:0048471 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048471 GO_function GO:0005102 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005102 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0005543 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005543 GO_function GO:0005548 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005548 GO_function GO:0008509 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008509 GO_function GO:0015485 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015485 GO_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GO_function GO:0017127 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0017127 GO_function GO:0019905 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019905 GO_function GO:0031267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031267 GO_function GO:0034185 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034185 GO_function GO:0034186 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034186 GO_function GO:0034188 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034188 GO_function GO:0042626 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042626 GO_function GO:0051117 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051117 GO_function GO:0090554 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090554 GO_function GO:0090556 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090556 GO_process GO:0002790 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002790 GO_process GO:0006497 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006497 GO_process GO:0006911 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006911 GO_process GO:0007040 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007040 GO_process GO:0007186 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007186 GO_process GO:0007584 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007584 GO_process GO:0008203 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008203 GO_process GO:0010745 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010745 GO_process GO:0010875 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010875 GO_process GO:0010887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010887 GO_process GO:0016197 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016197 GO_process GO:0030819 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030819 GO_process GO:0032367 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032367 GO_process GO:0032489 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032489 GO_process GO:0033344 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033344 GO_process GO:0033700 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033700 GO_process GO:0034380 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034380 GO_process GO:0034616 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034616 GO_process GO:0042157 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042157 GO_process GO:0042493 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042493 GO_process GO:0042632 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042632 GO_process GO:0043691 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043691 GO_process GO:0045332 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045332 GO_process GO:0050702 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050702 GO_process GO:0055091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055091 GO_process GO:0055098 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055098 GO_process GO:0060155 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060155 GO_process GO:0071222 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071222 GO_process GO:0071300 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071300 GO_process GO:0071397 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071397 GO_process GO:0090107 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090107 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0031410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0008289 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008289 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006464 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006464 GOslim_process GO:0006629 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006629 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GOslim_process GO:0061024 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061024 GOslim_process GO:0065003 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0065003 Gene3D 3.40.50.300 http://www.cathdb.info/version/latest/superfamily/3.40.50.300 GeneCards ABCA1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ABCA1 GeneID 19 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=19 GeneTree ENSGT00760000118965 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118965 HGNC HGNC:29 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:29 HOVERGEN HBG050436 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050436&db=HOVERGEN HPA CAB069889 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB069889 HPA HPA057283 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA057283 InParanoid O95477 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O95477 IntAct O95477 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O95477* InterPro IPR003439 http://www.ebi.ac.uk/interpro/entry/IPR003439 InterPro IPR003593 http://www.ebi.ac.uk/interpro/entry/IPR003593 InterPro IPR017871 http://www.ebi.ac.uk/interpro/entry/IPR017871 InterPro IPR026082 http://www.ebi.ac.uk/interpro/entry/IPR026082 InterPro IPR027417 http://www.ebi.ac.uk/interpro/entry/IPR027417 InterPro IPR030365 http://www.ebi.ac.uk/interpro/entry/IPR030365 Jabion 19 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=19 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Disease H00159 http://www.genome.jp/dbget-bin/www_bget?H00159 KEGG_Disease H00930 http://www.genome.jp/dbget-bin/www_bget?H00930 KEGG_Gene hsa:19 http://www.genome.jp/dbget-bin/www_bget?hsa:19 KEGG_Orthology KO:K05641 http://www.genome.jp/dbget-bin/www_bget?KO:K05641 KEGG_Pathway ko02010 http://www.genome.jp/kegg-bin/show_pathway?ko02010 KEGG_Pathway ko04975 http://www.genome.jp/kegg-bin/show_pathway?ko04975 MIM 205400 http://www.ncbi.nlm.nih.gov/omim/205400 MIM 600046 http://www.ncbi.nlm.nih.gov/omim/600046 MIM 604091 http://www.ncbi.nlm.nih.gov/omim/604091 MINT MINT-239561 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-239561 OMA KRMSEIC http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=KRMSEIC Orphanet 31150 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=31150 Orphanet 425 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=425 OrthoDB EOG091G007E http://cegg.unige.ch/orthodb/results?searchtext=EOG091G007E PANTHER PTHR19229 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR19229 PANTHER PTHR19229:SF34 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR19229:SF34 PROSITE PS00211 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00211 PROSITE PS50893 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50893 PSORT swissprot:ABCA1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ABCA1_HUMAN PSORT-B swissprot:ABCA1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ABCA1_HUMAN PSORT2 swissprot:ABCA1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ABCA1_HUMAN Pfam PF00005 http://pfam.xfam.org/family/PF00005 PharmGKB PA24373 http://www.pharmgkb.org/do/serve?objId=PA24373&objCls=Gene Phobius swissprot:ABCA1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ABCA1_HUMAN PhylomeDB O95477 http://phylomedb.org/?seqid=O95477 ProteinModelPortal O95477 http://www.proteinmodelportal.org/query/uniprot/O95477 PubMed 10092505 http://www.ncbi.nlm.nih.gov/pubmed/10092505 PubMed 10431236 http://www.ncbi.nlm.nih.gov/pubmed/10431236 PubMed 10431237 http://www.ncbi.nlm.nih.gov/pubmed/10431237 PubMed 10431238 http://www.ncbi.nlm.nih.gov/pubmed/10431238 PubMed 10533863 http://www.ncbi.nlm.nih.gov/pubmed/10533863 PubMed 10706591 http://www.ncbi.nlm.nih.gov/pubmed/10706591 PubMed 10884428 http://www.ncbi.nlm.nih.gov/pubmed/10884428 PubMed 10938021 http://www.ncbi.nlm.nih.gov/pubmed/10938021 PubMed 11086027 http://www.ncbi.nlm.nih.gov/pubmed/11086027 PubMed 11238261 http://www.ncbi.nlm.nih.gov/pubmed/11238261 PubMed 11257260 http://www.ncbi.nlm.nih.gov/pubmed/11257260 PubMed 11257261 http://www.ncbi.nlm.nih.gov/pubmed/11257261 PubMed 11279031 http://www.ncbi.nlm.nih.gov/pubmed/11279031 PubMed 11352567 http://www.ncbi.nlm.nih.gov/pubmed/11352567 PubMed 11476961 http://www.ncbi.nlm.nih.gov/pubmed/11476961 PubMed 11476965 http://www.ncbi.nlm.nih.gov/pubmed/11476965 PubMed 11785958 http://www.ncbi.nlm.nih.gov/pubmed/11785958 PubMed 12009425 http://www.ncbi.nlm.nih.gov/pubmed/12009425 PubMed 12032171 http://www.ncbi.nlm.nih.gov/pubmed/12032171 PubMed 12111371 http://www.ncbi.nlm.nih.gov/pubmed/12111371 PubMed 12111381 http://www.ncbi.nlm.nih.gov/pubmed/12111381 PubMed 12196520 http://www.ncbi.nlm.nih.gov/pubmed/12196520 PubMed 12204794 http://www.ncbi.nlm.nih.gov/pubmed/12204794 PubMed 12407001 http://www.ncbi.nlm.nih.gov/pubmed/12407001 PubMed 12624133 http://www.ncbi.nlm.nih.gov/pubmed/12624133 PubMed 12709788 http://www.ncbi.nlm.nih.gov/pubmed/12709788 PubMed 12763760 http://www.ncbi.nlm.nih.gov/pubmed/12763760 PubMed 12966036 http://www.ncbi.nlm.nih.gov/pubmed/12966036 PubMed 14576201 http://www.ncbi.nlm.nih.gov/pubmed/14576201 PubMed 15019541 http://www.ncbi.nlm.nih.gov/pubmed/15019541 PubMed 15158913 http://www.ncbi.nlm.nih.gov/pubmed/15158913 PubMed 15164053 http://www.ncbi.nlm.nih.gov/pubmed/15164053 PubMed 15262183 http://www.ncbi.nlm.nih.gov/pubmed/15262183 PubMed 15297675 http://www.ncbi.nlm.nih.gov/pubmed/15297675 PubMed 15520867 http://www.ncbi.nlm.nih.gov/pubmed/15520867 PubMed 15722566 http://www.ncbi.nlm.nih.gov/pubmed/15722566 PubMed 15790791 http://www.ncbi.nlm.nih.gov/pubmed/15790791 PubMed 16226177 http://www.ncbi.nlm.nih.gov/pubmed/16226177 PubMed 16959974 http://www.ncbi.nlm.nih.gov/pubmed/16959974 PubMed 17205124 http://www.ncbi.nlm.nih.gov/pubmed/17205124 PubMed 18354102 http://www.ncbi.nlm.nih.gov/pubmed/18354102 PubMed 19159218 http://www.ncbi.nlm.nih.gov/pubmed/19159218 PubMed 19258317 http://www.ncbi.nlm.nih.gov/pubmed/19258317 PubMed 19556522 http://www.ncbi.nlm.nih.gov/pubmed/19556522 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 27535533 http://www.ncbi.nlm.nih.gov/pubmed/27535533 Reactome R-HSA-194223 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-194223 Reactome R-HSA-1989781 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1989781 RefSeq NP_005493 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_005493 SMART SM00382 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00382 SMR O95477 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=O95477 STRING 9606.ENSP00000363868 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000363868&targetmode=cogs SUPFAM SSF52540 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52540 TCDB 3.A.1.211.14 http://www.tcdb.org/search/result.php?tc=3.A.1.211.14 UCSC uc004bcl http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc004bcl&org=rat UniGene Hs.659274 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.659274 UniProtKB ABCA1_HUMAN http://www.uniprot.org/uniprot/ABCA1_HUMAN UniProtKB-AC O95477 http://www.uniprot.org/uniprot/O95477 charge swissprot:ABCA1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ABCA1_HUMAN eggNOG COG1131 http://eggnogapi.embl.de/nog_data/html/tree/COG1131 eggNOG KOG0059 http://eggnogapi.embl.de/nog_data/html/tree/KOG0059 epestfind swissprot:ABCA1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ABCA1_HUMAN garnier swissprot:ABCA1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ABCA1_HUMAN helixturnhelix swissprot:ABCA1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ABCA1_HUMAN hmoment swissprot:ABCA1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ABCA1_HUMAN iep swissprot:ABCA1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ABCA1_HUMAN inforesidue swissprot:ABCA1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ABCA1_HUMAN neXtProt NX_O95477 http://www.nextprot.org/db/entry/NX_O95477 octanol swissprot:ABCA1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ABCA1_HUMAN pepcoil swissprot:ABCA1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ABCA1_HUMAN pepdigest swissprot:ABCA1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ABCA1_HUMAN pepinfo swissprot:ABCA1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ABCA1_HUMAN pepnet swissprot:ABCA1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ABCA1_HUMAN pepstats swissprot:ABCA1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ABCA1_HUMAN pepwheel swissprot:ABCA1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ABCA1_HUMAN pepwindow swissprot:ABCA1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ABCA1_HUMAN sigcleave swissprot:ABCA1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ABCA1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS CMC1_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O75746-1; Sequence=Displayed; Name=2; IsoId=O75746-2; Sequence=VSP_054469; Note=No experimental confirmation available.; # AltName CMC1_HUMAN Mitochondrial aspartate glutamate carrier 1 # AltName CMC1_HUMAN Solute carrier family 25 member 12 # BioGrid 114164 32 # CCDS CCDS33327 -. [O75746-1] # ChiTaRS SLC25A12 human # DISEASE CMC1_HUMAN Epileptic encephalopathy, early infantile, 39 (EIEE39) [MIM 612949] A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE39 is characterized by global hypomyelination of the central nervous system, with the gray matter appearing relatively unaffected. Inheritance is autosomal recessive. {ECO 0000269|PubMed 19641205, ECO 0000269|PubMed 24515575}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DrugBank DB00128 L-Aspartic Acid # Ensembl ENST00000422440 ENSP00000388658; ENSG00000115840. [O75746-1] # ExpressionAtlas O75746 baseline and differential # FUNCTION CMC1_HUMAN Catalyzes the calcium-dependent exchange of cytoplasmic glutamate with mitochondrial aspartate across the mitochondrial inner membrane. May have a function in the urea cycle. {ECO 0000269|PubMed 11566871}. # GO_component GO:0005739 mitochondrion; IDA:UniProtKB. # GO_component GO:0005743 mitochondrial inner membrane; TAS:Reactome. # GO_component GO:0016021 integral component of membrane; NAS:UniProtKB. # GO_component GO:0043209 myelin sheath; IEA:Ensembl. # GO_function GO:0005313 L-glutamate transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0005509 calcium ion binding; IDA:UniProtKB. # GO_function GO:0015172 acidic amino acid transmembrane transporter activity; TAS:Reactome. # GO_function GO:0015183 L-aspartate transmembrane transporter activity; IDA:UniProtKB. # GO_process GO:0006094 gluconeogenesis; TAS:Reactome. # GO_process GO:0015810 aspartate transport; IDA:UniProtKB. # GO_process GO:0015813 L-glutamate transport; IDA:UniProtKB. # GO_process GO:0043490 malate-aspartate shuttle; IDA:UniProtKB. # GO_process GO:0051592 response to calcium ion; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005739 mitochondrion # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0005975 carbohydrate metabolic process # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0044281 small molecule metabolic process # Gene3D 1.10.238.10 -; 2. # Gene3D 1.50.40.10 -; 1. # Genevisible O75746 HS # HGNC HGNC:10982 SLC25A12 # IntAct O75746 26 # InterPro IPR002048 EF_hand_dom # InterPro IPR002067 Mit_carrier # InterPro IPR011992 EF-hand-dom_pair # InterPro IPR018108 Mitochondrial_sb/sol_carrier # InterPro IPR018247 EF_Hand_1_Ca_BS # InterPro IPR023395 Mt_carrier_dom # KEGG_Brite ko02001 Solute carrier family # KEGG_Disease H01305 [Developmental disorder; Nervous system disease] Global cerebral hypomyelination # MIM 603667 gene # MIM 612949 phenotype # MISCELLANEOUS CMC1_HUMAN Binds calcium. # Organism CMC1_HUMAN Homo sapiens (Human) # Orphanet 353217 Epileptic encephalopathy with global cerebral demyelination # PDB 4P5X X-ray; 2.26 A; A=2-311 # PDB 4P60 X-ray; 2.40 A; A/B=2-311 # PRINTS PR00926 MITOCARRIER # PROSITE PS00018 EF_HAND_1 # PROSITE PS50222 EF_HAND_2; 2 # PROSITE PS50920 SOLCAR; 3 # Pfam PF00153 Mito_carr; 3 # Proteomes UP000005640 Chromosome 2 # Reactome R-HSA-1268020 Mitochondrial protein import # Reactome R-HSA-70263 Gluconeogenesis # RecName CMC1_HUMAN Calcium-binding mitochondrial carrier protein Aralar1 # RefSeq NP_003696 NM_003705.4. [O75746-1] # SIMILARITY Belongs to the mitochondrial carrier (TC 2.A.29) family. {ECO 0000305}. # SIMILARITY Contains 3 Solcar repeats. {ECO:0000255|PROSITE- ProRule PRU00282}. # SIMILARITY Contains 4 EF-hand domains. {ECO:0000255|PROSITE- ProRule PRU00448}. # SMART SM00054 EFh; 3 # SUBCELLULAR LOCATION CMC1_HUMAN Mitochondrion inner membrane {ECO 0000269|PubMed 9722566}; Multi-pass membrane protein {ECO 0000269|PubMed 9722566}. # SUPFAM SSF103506 SSF103506 # SUPFAM SSF47473 SSF47473; 2 # TCDB 2.A.29.14 the mitochondrial carrier (mc) family # TISSUE SPECIFICITY CMC1_HUMAN High levels in heart and skeletal muscle, low in brain and very low in kidney. {ECO 0000269|PubMed 10369257, ECO 0000269|PubMed 9722566}. # UCSC uc002uhh human. [O75746-1] # eggNOG ENOG410XNRM LUCA # eggNOG KOG0751 Eukaryota BLAST swissprot:CMC1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CMC1_HUMAN BioCyc ZFISH:ENSG00000115840-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000115840-MONOMER COXPRESdb 8604 http://coxpresdb.jp/data/gene/8604.shtml CleanEx HS_SLC25A12 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC25A12 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1007/8904_2013_287 http://dx.doi.org/10.1007/8904_2013_287 DOI 10.1038/9667 http://dx.doi.org/10.1038/9667 DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1056/NEJMoa0900591 http://dx.doi.org/10.1056/NEJMoa0900591 DOI 10.1073/pnas.1210303109 http://dx.doi.org/10.1073/pnas.1210303109 DOI 10.1074/jbc.273.36.23327 http://dx.doi.org/10.1074/jbc.273.36.23327 DOI 10.1093/emboj/20.18.5060 http://dx.doi.org/10.1093/emboj/20.18.5060 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DrugBank DB00128 http://www.drugbank.ca/drugs/DB00128 EMBL AC015976 http://www.ebi.ac.uk/ena/data/view/AC015976 EMBL AC068039 http://www.ebi.ac.uk/ena/data/view/AC068039 EMBL AC114745 http://www.ebi.ac.uk/ena/data/view/AC114745 EMBL AJ496568 http://www.ebi.ac.uk/ena/data/view/AJ496568 EMBL AK091071 http://www.ebi.ac.uk/ena/data/view/AK091071 EMBL BC016932 http://www.ebi.ac.uk/ena/data/view/BC016932 EMBL CH471058 http://www.ebi.ac.uk/ena/data/view/CH471058 EMBL Y14494 http://www.ebi.ac.uk/ena/data/view/Y14494 Ensembl ENST00000422440 http://www.ensembl.org/id/ENST00000422440 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0043209 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043209 GO_function GO:0005313 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005313 GO_function GO:0005509 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005509 GO_function GO:0015172 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015172 GO_function GO:0015183 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015183 GO_process GO:0006094 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006094 GO_process GO:0015810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015810 GO_process GO:0015813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015813 GO_process GO:0043490 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043490 GO_process GO:0051592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051592 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0005975 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005975 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 Gene3D 1.10.238.10 http://www.cathdb.info/version/latest/superfamily/1.10.238.10 Gene3D 1.50.40.10 http://www.cathdb.info/version/latest/superfamily/1.50.40.10 GeneCards SLC25A12 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC25A12 GeneID 8604 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=8604 GeneTree ENSGT00530000062944 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000062944 H-InvDB HIX0002590 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0002590 HGNC HGNC:10982 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10982 HOGENOM HOG000180633 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000180633&db=HOGENOM6 HOVERGEN HBG005350 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG005350&db=HOVERGEN HPA HPA035333 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA035333 HPA HPA035334 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA035334 InParanoid O75746 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O75746 IntAct O75746 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O75746* InterPro IPR002048 http://www.ebi.ac.uk/interpro/entry/IPR002048 InterPro IPR002067 http://www.ebi.ac.uk/interpro/entry/IPR002067 InterPro IPR011992 http://www.ebi.ac.uk/interpro/entry/IPR011992 InterPro IPR018108 http://www.ebi.ac.uk/interpro/entry/IPR018108 InterPro IPR018247 http://www.ebi.ac.uk/interpro/entry/IPR018247 InterPro IPR023395 http://www.ebi.ac.uk/interpro/entry/IPR023395 Jabion 8604 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=8604 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Disease H01305 http://www.genome.jp/dbget-bin/www_bget?H01305 KEGG_Gene hsa:8604 http://www.genome.jp/dbget-bin/www_bget?hsa:8604 KEGG_Orthology KO:K15105 http://www.genome.jp/dbget-bin/www_bget?KO:K15105 MIM 603667 http://www.ncbi.nlm.nih.gov/omim/603667 MIM 612949 http://www.ncbi.nlm.nih.gov/omim/612949 OMA DGYNHPL http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=DGYNHPL Orphanet 353217 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=353217 OrthoDB EOG091G08GT http://cegg.unige.ch/orthodb/results?searchtext=EOG091G08GT PDB 4P5X http://www.ebi.ac.uk/pdbe-srv/view/entry/4P5X PDB 4P60 http://www.ebi.ac.uk/pdbe-srv/view/entry/4P60 PDBsum 4P5X http://www.ebi.ac.uk/pdbsum/4P5X PDBsum 4P60 http://www.ebi.ac.uk/pdbsum/4P60 PRINTS PR00926 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00926 PROSITE PS00018 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00018 PROSITE PS50222 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50222 PROSITE PS50920 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50920 PSORT swissprot:CMC1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CMC1_HUMAN PSORT-B swissprot:CMC1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CMC1_HUMAN PSORT2 swissprot:CMC1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CMC1_HUMAN Pfam PF00153 http://pfam.xfam.org/family/PF00153 PharmGKB PA35858 http://www.pharmgkb.org/do/serve?objId=PA35858&objCls=Gene Phobius swissprot:CMC1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CMC1_HUMAN PhylomeDB O75746 http://phylomedb.org/?seqid=O75746 ProteinModelPortal O75746 http://www.proteinmodelportal.org/query/uniprot/O75746 PubMed 10369257 http://www.ncbi.nlm.nih.gov/pubmed/10369257 PubMed 11566871 http://www.ncbi.nlm.nih.gov/pubmed/11566871 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 PubMed 19641205 http://www.ncbi.nlm.nih.gov/pubmed/19641205 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 22814378 http://www.ncbi.nlm.nih.gov/pubmed/22814378 PubMed 24515575 http://www.ncbi.nlm.nih.gov/pubmed/24515575 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 9722566 http://www.ncbi.nlm.nih.gov/pubmed/9722566 Reactome R-HSA-1268020 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1268020 Reactome R-HSA-70263 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-70263 RefSeq NP_003696 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_003696 SMART SM00054 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00054 SMR O75746 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=O75746 STRING 9606.ENSP00000388658 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000388658&targetmode=cogs SUPFAM SSF103506 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103506 SUPFAM SSF47473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF47473 TCDB 2.A.29.14 http://www.tcdb.org/search/result.php?tc=2.A.29.14 UCSC uc002uhh http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002uhh&org=rat UniGene Hs.470608 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.470608 UniProtKB CMC1_HUMAN http://www.uniprot.org/uniprot/CMC1_HUMAN UniProtKB-AC O75746 http://www.uniprot.org/uniprot/O75746 charge swissprot:CMC1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CMC1_HUMAN eggNOG ENOG410XNRM http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XNRM eggNOG KOG0751 http://eggnogapi.embl.de/nog_data/html/tree/KOG0751 epestfind swissprot:CMC1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CMC1_HUMAN garnier swissprot:CMC1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CMC1_HUMAN helixturnhelix swissprot:CMC1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CMC1_HUMAN hmoment swissprot:CMC1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CMC1_HUMAN iep swissprot:CMC1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CMC1_HUMAN inforesidue swissprot:CMC1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CMC1_HUMAN neXtProt NX_O75746 http://www.nextprot.org/db/entry/NX_O75746 octanol swissprot:CMC1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CMC1_HUMAN pepcoil swissprot:CMC1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CMC1_HUMAN pepdigest swissprot:CMC1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CMC1_HUMAN pepinfo swissprot:CMC1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CMC1_HUMAN pepnet swissprot:CMC1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CMC1_HUMAN pepstats swissprot:CMC1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CMC1_HUMAN pepwheel swissprot:CMC1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CMC1_HUMAN pepwindow swissprot:CMC1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CMC1_HUMAN sigcleave swissprot:CMC1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CMC1_HUMAN ## Database ID URL or Descriptions # AltName ZNT4_HUMAN Solute carrier family 30 member 4 # BioGrid 113563 21 # ChiTaRS SLC30A4 human # DOMAIN ZNT4_HUMAN Contains a histidine-rich region which is a ligand for zinc and an aspartate-rich region which is a potential ligand for zinc. {ECO 0000250}. # Ensembl ENST00000261867 ENSP00000261867; ENSG00000104154 # FUNCTION ZNT4_HUMAN Probably involved in zinc transport out of the cytoplasm, maybe by sequestration into an intracellular compartment. # GO_component GO:0005737 cytoplasm; IDA:BHF-UCL. # GO_component GO:0005765 lysosomal membrane; IEA:UniProtKB-SubCell. # GO_component GO:0005770 late endosome; IDA:BHF-UCL. # GO_component GO:0016020 membrane; IBA:GO_Central. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0016023 cytoplasmic, membrane-bounded vesicle; IBA:GO_Central. # GO_component GO:0031902 late endosome membrane; IEA:UniProtKB-SubCell. # GO_function GO:0005385 zinc ion transmembrane transporter activity; TAS:ProtInc. # GO_process GO:0009636 response to toxic substance; IDA:UniProtKB. # GO_process GO:0010043 response to zinc ion; IBA:GO_Central. # GO_process GO:0055069 zinc ion homeostasis; IEA:Ensembl. # GO_process GO:0061088 regulation of sequestering of zinc ion; IDA:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005768 endosome # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # Gene3D 1.20.1510.10 -; 1. # Genevisible O14863 HS # HGNC HGNC:11015 SLC30A4 # InterPro IPR002524 Cation_efflux # InterPro IPR027469 Cation_efflux_TMD # KEGG_Brite ko02001 Solute carrier family # MIM 602095 gene # Organism ZNT4_HUMAN Homo sapiens (Human) # PANTHER PTHR11562 PTHR11562 # Pfam PF01545 Cation_efflux # Proteomes UP000005640 Chromosome 15 # RecName ZNT4_HUMAN Zinc transporter 4 # RefSeq NP_037441 NM_013309.5 # RefSeq XP_011520299 XM_011521997.2 # RefSeq XP_016878049 XM_017022560.1 # SIMILARITY Belongs to the cation diffusion facilitator (CDF) transporter (TC 2.A.4) family. SLC30A subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION ZNT4_HUMAN Endosome membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. Late endosome membrane {ECO 0000269|PubMed 17349999}; Multi-pass membrane protein {ECO 0000255}. Lysosome membrane {ECO 0000269|PubMed 17349999}; Multi-pass membrane protein {ECO 0000255}. # TCDB 2.A.4.3 the cation diffusion facilitator (cdf) family # TIGRFAMs TIGR01297 CDF # UCSC uc001zvj human # eggNOG COG1230 LUCA # eggNOG KOG1482 Eukaryota BLAST swissprot:ZNT4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ZNT4_HUMAN BioCyc ZFISH:ENSG00000104154-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000104154-MONOMER COXPRESdb 7782 http://coxpresdb.jp/data/gene/7782.shtml CleanEx HS_SLC30A4 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC30A4 DOI 10.1016/j.yexcr.2007.02.006 http://dx.doi.org/10.1016/j.yexcr.2007.02.006 DOI 10.1038/ng1197-292 http://dx.doi.org/10.1038/ng1197-292 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AF025409 http://www.ebi.ac.uk/ena/data/view/AF025409 EMBL AK290874 http://www.ebi.ac.uk/ena/data/view/AK290874 EMBL BC026089 http://www.ebi.ac.uk/ena/data/view/BC026089 EMBL CH471082 http://www.ebi.ac.uk/ena/data/view/CH471082 Ensembl ENST00000261867 http://www.ensembl.org/id/ENST00000261867 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005765 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005765 GO_component GO:0005770 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005770 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0016023 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016023 GO_component GO:0031902 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031902 GO_function GO:0005385 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005385 GO_process GO:0009636 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009636 GO_process GO:0010043 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010043 GO_process GO:0055069 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055069 GO_process GO:0061088 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061088 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 Gene3D 1.20.1510.10 http://www.cathdb.info/version/latest/superfamily/1.20.1510.10 GeneCards SLC30A4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC30A4 GeneID 7782 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=7782 GeneTree ENSGT00550000074381 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074381 H-InvDB HIX0012212 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0012212 HGNC HGNC:11015 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11015 HOGENOM HOG000079023 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000079023&db=HOGENOM6 HOVERGEN HBG003345 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG003345&db=HOVERGEN HPA HPA018178 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA018178 InParanoid O14863 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O14863 InterPro IPR002524 http://www.ebi.ac.uk/interpro/entry/IPR002524 InterPro IPR027469 http://www.ebi.ac.uk/interpro/entry/IPR027469 Jabion 7782 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=7782 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:7782 http://www.genome.jp/dbget-bin/www_bget?hsa:7782 KEGG_Orthology KO:K14691 http://www.genome.jp/dbget-bin/www_bget?KO:K14691 MIM 602095 http://www.ncbi.nlm.nih.gov/omim/602095 OMA HTYGWHN http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=HTYGWHN OrthoDB EOG091G07UN http://cegg.unige.ch/orthodb/results?searchtext=EOG091G07UN PANTHER PTHR11562 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11562 PSORT swissprot:ZNT4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ZNT4_HUMAN PSORT-B swissprot:ZNT4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ZNT4_HUMAN PSORT2 swissprot:ZNT4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ZNT4_HUMAN Pfam PF01545 http://pfam.xfam.org/family/PF01545 PharmGKB PA35885 http://www.pharmgkb.org/do/serve?objId=PA35885&objCls=Gene Phobius swissprot:ZNT4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ZNT4_HUMAN PhylomeDB O14863 http://phylomedb.org/?seqid=O14863 ProteinModelPortal O14863 http://www.proteinmodelportal.org/query/uniprot/O14863 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 17349999 http://www.ncbi.nlm.nih.gov/pubmed/17349999 PubMed 9354792 http://www.ncbi.nlm.nih.gov/pubmed/9354792 RefSeq NP_037441 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_037441 RefSeq XP_011520299 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011520299 RefSeq XP_016878049 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016878049 STRING 9606.ENSP00000261867 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000261867&targetmode=cogs TCDB 2.A.4.3 http://www.tcdb.org/search/result.php?tc=2.A.4.3 TIGRFAMs TIGR01297 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01297 UCSC uc001zvj http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001zvj&org=rat UniGene Hs.162989 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.162989 UniGene Hs.375762 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.375762 UniProtKB ZNT4_HUMAN http://www.uniprot.org/uniprot/ZNT4_HUMAN UniProtKB-AC O14863 http://www.uniprot.org/uniprot/O14863 charge swissprot:ZNT4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ZNT4_HUMAN eggNOG COG1230 http://eggnogapi.embl.de/nog_data/html/tree/COG1230 eggNOG KOG1482 http://eggnogapi.embl.de/nog_data/html/tree/KOG1482 epestfind swissprot:ZNT4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ZNT4_HUMAN garnier swissprot:ZNT4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ZNT4_HUMAN helixturnhelix swissprot:ZNT4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ZNT4_HUMAN hmoment swissprot:ZNT4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ZNT4_HUMAN iep swissprot:ZNT4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ZNT4_HUMAN inforesidue swissprot:ZNT4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ZNT4_HUMAN neXtProt NX_O14863 http://www.nextprot.org/db/entry/NX_O14863 octanol swissprot:ZNT4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ZNT4_HUMAN pepcoil swissprot:ZNT4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ZNT4_HUMAN pepdigest swissprot:ZNT4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ZNT4_HUMAN pepinfo swissprot:ZNT4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ZNT4_HUMAN pepnet swissprot:ZNT4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ZNT4_HUMAN pepstats swissprot:ZNT4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ZNT4_HUMAN pepwheel swissprot:ZNT4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ZNT4_HUMAN pepwindow swissprot:ZNT4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ZNT4_HUMAN sigcleave swissprot:ZNT4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ZNT4_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS VA0E2_HUMAN Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q8NHE4-1; Sequence=Displayed; Name=2; IsoId=Q8NHE4-2; Sequence=VSP_027104; Name=3; IsoId=Q8NHE4-3; Sequence=VSP_027105; Note=May be due to a competing donor splice site.; Name=4; IsoId=Q8NHE4-4; Sequence=VSP_044857; Note=No experimental confirmation available.; # AltName VA0E2_HUMAN Lysosomal 9 kDa H(+)-transporting ATPase V0 subunit e2 # AltName VA0E2_HUMAN Vacuolar proton pump subunit e 2 # CCDS CCDS55181 -. [Q8NHE4-4] # ChiTaRS ATP6V0E2 human # Ensembl ENST00000425642 ENSP00000396148; ENSG00000171130. [Q8NHE4-1] # Ensembl ENST00000456496 ENSP00000410220; ENSG00000171130. [Q8NHE4-4] # Ensembl ENST00000464662 ENSP00000475645; ENSG00000171130. [Q8NHE4-1] # Ensembl ENST00000471877 ENSP00000420679; ENSG00000171130. [Q8NHE4-1] # Ensembl ENST00000479613 ENSP00000417939; ENSG00000171130. [Q8NHE4-3] # Ensembl ENST00000606024 ENSP00000475904; ENSG00000171130. [Q8NHE4-2] # Ensembl ENST00000615196 ENSP00000481176; ENSG00000171130. [Q8NHE4-4] # ExpressionAtlas Q8NHE4 baseline and differential # FUNCTION VA0E2_HUMAN Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. {ECO 0000250}. # GO_component GO:0010008 endosome membrane; TAS:Reactome. # GO_component GO:0016020 membrane; IBA:GO_Central. # GO_component GO:0016021 integral component of membrane; NAS:UniProtKB. # GO_component GO:0030670 phagocytic vesicle membrane; TAS:Reactome. # GO_component GO:0033179 proton-transporting V-type ATPase, V0 domain; IEA:InterPro. # GO_function GO:0042625 ATPase coupled ion transmembrane transporter activity; ISS:UniProtKB. # GO_function GO:0046961 proton-transporting ATPase activity, rotational mechanism; IBA:GO_Central. # GO_process GO:0007035 vacuolar acidification; ISS:UniProtKB. # GO_process GO:0008286 insulin receptor signaling pathway; TAS:Reactome. # GO_process GO:0015991 ATP hydrolysis coupled proton transport; IEA:InterPro. # GO_process GO:0016049 cell growth; IGI:UniProtKB. # GO_process GO:0016241 regulation of macroautophagy; NAS:ParkinsonsUK-UCL. # GO_process GO:0033572 transferrin transport; TAS:Reactome. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0090383 phagosome acidification; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0043234 protein complex # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0040007 growth # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Genevisible Q8NHE4 HS # HGNC HGNC:21723 ATP6V0E2 # InterPro IPR008389 ATPase_V0-cplx_e1/e2_su # InterPro IPR017385 ATPase_V0-cplx_e1/e2_su_met # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Brite ko01000 Enzymes # KEGG_Pathway ko00190 Oxidative phosphorylation # KEGG_Pathway ko04145 Phagosome # KEGG_Pathway ko04721 Synaptic vesicle cycle # KEGG_Pathway ko04966 Collecting duct acid secretion # KEGG_Pathway ko05110 Vibrio cholerae infection # KEGG_Pathway ko05120 Epithelial cell signaling in Helicobacter pylori infection # KEGG_Pathway ko05323 Rheumatoid arthritis # MIM 611019 gene # Organism VA0E2_HUMAN Homo sapiens (Human) # PANTHER PTHR12263 PTHR12263 # PIRSF PIRSF038097 V-ATP_synth_e1/e2 # Pfam PF05493 ATP_synt_H # Proteomes UP000005640 Chromosome 7 # Reactome R-HSA-1222556 ROS, RNS production in response to bacteria # Reactome R-HSA-77387 Insulin receptor recycling # Reactome R-HSA-917977 Transferrin endocytosis and recycling # Reactome R-HSA-983712 Ion channel transport # RecName VA0E2_HUMAN V-type proton ATPase subunit e 2 # RefSeq NP_001094062 NM_001100592.2 # RefSeq NP_001276919 NM_001289990.1 # RefSeq NP_660265 NM_145230.3. [Q8NHE4-4] # SEQUENCE CAUTION VA0E2_HUMAN Sequence=AAP97693.1; Type=Frameshift; Positions=80, 108; Evidence={ECO 0000305}; Sequence=AAQ96859.1; Type=Erroneous gene model prediction; Evidence={ECO 0000305}; Sequence=BAC05292.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO 0000305}; Sequence=CAE45916.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the V-ATPase e1/e2 subunit family. {ECO 0000305}. # SUBCELLULAR LOCATION VA0E2_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # SUBUNIT VA0E2_HUMAN Composed of at least 10 subunits. # TISSUE SPECIFICITY Isoform 1 is expressed at high levels in heart, brain and kidney and also detected in inner ear epithelium, vestibule, testis, epididymis and bladder. Isoform 2 is expressed in heart, kidney, placenta and pancreas. Isoform 2 is not detected in frontal cortex, but is prevalent in all other brain areas. {ECO:0000269|PubMed 17350184}. # UCSC uc003wgp human. [Q8NHE4-1] BLAST swissprot:VA0E2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:VA0E2_HUMAN BioCyc MetaCyc:HS15951-MONOMER http://biocyc.org/getid?id=MetaCyc:HS15951-MONOMER BioCyc ZFISH:HS15951-MONOMER http://biocyc.org/getid?id=ZFISH:HS15951-MONOMER COXPRESdb 155066 http://coxpresdb.jp/data/gene/155066.shtml CleanEx HS_ATP6V0E2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ATP6V0E2 DOI 10.1016/j.gene.2007.01.020 http://dx.doi.org/10.1016/j.gene.2007.01.020 DOI 10.1038/nature01782 http://dx.doi.org/10.1038/nature01782 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 EMBL AC093458 http://www.ebi.ac.uk/ena/data/view/AC093458 EMBL AF452639 http://www.ebi.ac.uk/ena/data/view/AF452639 EMBL AK098362 http://www.ebi.ac.uk/ena/data/view/AK098362 EMBL AY037164 http://www.ebi.ac.uk/ena/data/view/AY037164 EMBL BX640846 http://www.ebi.ac.uk/ena/data/view/BX640846 EMBL DQ989009 http://www.ebi.ac.uk/ena/data/view/DQ989009 EMBL DQ995344 http://www.ebi.ac.uk/ena/data/view/DQ995344 Ensembl ENST00000425642 http://www.ensembl.org/id/ENST00000425642 Ensembl ENST00000456496 http://www.ensembl.org/id/ENST00000456496 Ensembl ENST00000464662 http://www.ensembl.org/id/ENST00000464662 Ensembl ENST00000471877 http://www.ensembl.org/id/ENST00000471877 Ensembl ENST00000479613 http://www.ensembl.org/id/ENST00000479613 Ensembl ENST00000606024 http://www.ensembl.org/id/ENST00000606024 Ensembl ENST00000615196 http://www.ensembl.org/id/ENST00000615196 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0010008 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010008 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0030670 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030670 GO_component GO:0033179 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033179 GO_function GO:0042625 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042625 GO_function GO:0046961 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046961 GO_process GO:0007035 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007035 GO_process GO:0008286 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008286 GO_process GO:0015991 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015991 GO_process GO:0016049 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016049 GO_process GO:0016241 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016241 GO_process GO:0033572 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033572 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0090383 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090383 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0040007 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0040007 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards ATP6V0E2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ATP6V0E2 GeneID 155066 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=155066 GeneTree ENSGT00390000000728 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000000728 H-InvDB HIX0007198 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0007198 HGNC HGNC:21723 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:21723 HOGENOM HOG000205467 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000205467&db=HOGENOM6 HOVERGEN HBG003974 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG003974&db=HOVERGEN InParanoid Q8NHE4 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8NHE4 InterPro IPR008389 http://www.ebi.ac.uk/interpro/entry/IPR008389 InterPro IPR017385 http://www.ebi.ac.uk/interpro/entry/IPR017385 Jabion 155066 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=155066 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00002 http://www.genome.jp/dbget-bin/www_bget?ko00002 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Gene hsa:155066 http://www.genome.jp/dbget-bin/www_bget?hsa:155066 KEGG_Orthology KO:K02153 http://www.genome.jp/dbget-bin/www_bget?KO:K02153 KEGG_Pathway ko00190 http://www.genome.jp/kegg-bin/show_pathway?ko00190 KEGG_Pathway ko04145 http://www.genome.jp/kegg-bin/show_pathway?ko04145 KEGG_Pathway ko04721 http://www.genome.jp/kegg-bin/show_pathway?ko04721 KEGG_Pathway ko04966 http://www.genome.jp/kegg-bin/show_pathway?ko04966 KEGG_Pathway ko05110 http://www.genome.jp/kegg-bin/show_pathway?ko05110 KEGG_Pathway ko05120 http://www.genome.jp/kegg-bin/show_pathway?ko05120 KEGG_Pathway ko05323 http://www.genome.jp/kegg-bin/show_pathway?ko05323 MIM 611019 http://www.ncbi.nlm.nih.gov/omim/611019 OMA APWFVPK http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=APWFVPK PANTHER PTHR12263 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12263 PSORT swissprot:VA0E2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:VA0E2_HUMAN PSORT-B swissprot:VA0E2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:VA0E2_HUMAN PSORT2 swissprot:VA0E2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:VA0E2_HUMAN Pfam PF05493 http://pfam.xfam.org/family/PF05493 PharmGKB PA162377277 http://www.pharmgkb.org/do/serve?objId=PA162377277&objCls=Gene Phobius swissprot:VA0E2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:VA0E2_HUMAN PhylomeDB Q8NHE4 http://phylomedb.org/?seqid=Q8NHE4 ProteinModelPortal Q8NHE4 http://www.proteinmodelportal.org/query/uniprot/Q8NHE4 PubMed 12853948 http://www.ncbi.nlm.nih.gov/pubmed/12853948 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 17350184 http://www.ncbi.nlm.nih.gov/pubmed/17350184 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 Reactome R-HSA-1222556 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1222556 Reactome R-HSA-77387 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-77387 Reactome R-HSA-917977 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-917977 Reactome R-HSA-983712 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-983712 RefSeq NP_001094062 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001094062 RefSeq NP_001276919 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001276919 RefSeq NP_660265 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_660265 UCSC uc003wgp http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003wgp&org=rat UniGene Hs.556998 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.556998 UniProtKB VA0E2_HUMAN http://www.uniprot.org/uniprot/VA0E2_HUMAN UniProtKB-AC Q8NHE4 http://www.uniprot.org/uniprot/Q8NHE4 charge swissprot:VA0E2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:VA0E2_HUMAN epestfind swissprot:VA0E2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:VA0E2_HUMAN garnier swissprot:VA0E2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:VA0E2_HUMAN helixturnhelix swissprot:VA0E2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:VA0E2_HUMAN hmoment swissprot:VA0E2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:VA0E2_HUMAN iep swissprot:VA0E2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:VA0E2_HUMAN inforesidue swissprot:VA0E2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:VA0E2_HUMAN neXtProt NX_Q8NHE4 http://www.nextprot.org/db/entry/NX_Q8NHE4 octanol swissprot:VA0E2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:VA0E2_HUMAN pepcoil swissprot:VA0E2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:VA0E2_HUMAN pepdigest swissprot:VA0E2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:VA0E2_HUMAN pepinfo swissprot:VA0E2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:VA0E2_HUMAN pepnet swissprot:VA0E2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:VA0E2_HUMAN pepstats swissprot:VA0E2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:VA0E2_HUMAN pepwheel swissprot:VA0E2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:VA0E2_HUMAN pepwindow swissprot:VA0E2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:VA0E2_HUMAN sigcleave swissprot:VA0E2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:VA0E2_HUMAN ## Database ID URL or Descriptions # AltName KCA10_HUMAN Voltage-gated potassium channel subunit Kv1.8 # BioGrid 109946 17 # DOMAIN KCA10_HUMAN The N-terminus may be important in determining the rate of inactivation of the channel while the tail may play a role in modulation of channel activity and/or targeting of the channel to specific subcellular compartments. # DOMAIN KCA10_HUMAN The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position. # DrugBank DB06637 Dalfampridine # Ensembl ENST00000369771 ENSP00000358786; ENSG00000143105 # FUNCTION KCA10_HUMAN Mediates voltage-dependent potassium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a potassium-selective channel through which potassium ions may pass in accordance with their electrochemical gradient. The channel activity is up-regulated by cAMP. {ECO 0000269|PubMed 10836990}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0008076 voltage-gated potassium channel complex; IEA:InterPro. # GO_component GO:0016021 integral component of membrane; IBA:GO_Central. # GO_function GO:0005221 intracellular cyclic nucleotide activated cation channel activity; TAS:ProtInc. # GO_function GO:0005251 delayed rectifier potassium channel activity; IBA:GO_Central. # GO_process GO:0006813 potassium ion transport; TAS:ProtInc. # GO_process GO:0051260 protein homooligomerization; IEA:InterPro. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # Gene3D 1.20.120.350 -; 1. # Genevisible Q16322 HS # HGNC HGNC:6219 KCNA10 # InterPro IPR000210 BTB/POZ_dom # InterPro IPR003131 T1-type_BTB # InterPro IPR003968 K_chnl_volt-dep_Kv # InterPro IPR003972 K_chnl_volt-dep_Kv1 # InterPro IPR005821 Ion_trans_dom # InterPro IPR011333 SKP1/BTB/POZ # InterPro IPR027359 Channel_four-helix_dom # InterPro IPR028325 VG_K_chnl # KEGG_Brite ko04040 Ion channels # MIM 602420 gene # Organism KCA10_HUMAN Homo sapiens (Human) # PANTHER PTHR11537 PTHR11537 # PRINTS PR00169 KCHANNEL # PRINTS PR01491 KVCHANNEL # PRINTS PR01496 SHAKERCHANEL # Pfam PF00520 Ion_trans # Pfam PF02214 BTB_2 # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-1296072 Voltage gated Potassium channels # RecName KCA10_HUMAN Potassium voltage-gated channel subfamily A member 10 # RefSeq NP_005540 NM_005549.2 # SIMILARITY Belongs to the potassium channel family. A (Shaker) (TC 1.A.1.2) subfamily. Kv1.8/KCNA10 sub-subfamily. {ECO 0000305}. # SMART SM00225 BTB # SUBCELLULAR LOCATION KCA10_HUMAN Membrane {ECO 0000269|PubMed 10836990}; Multi-pass membrane protein {ECO 0000269|PubMed 10836990}. # SUBUNIT Homotetramer. Interacts with KCN4B/POMP. Interaction with KCN4B/POMP is necessary for the modulation of channel activity by cAMP. {ECO:0000269|PubMed 12060596}. # SUPFAM SSF54695 SSF54695 # TISSUE SPECIFICITY Detected in kidney, in proximal tubules, glomerular endothelium, in vascular endothelium and in smooth muscle cells. {ECO:0000269|PubMed 12444201}. # UCSC uc001dzt human # eggNOG COG1226 LUCA # eggNOG KOG1545 Eukaryota BLAST swissprot:KCA10_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCA10_HUMAN BioCyc ZFISH:ENSG00000143105-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000143105-MONOMER COXPRESdb 3744 http://coxpresdb.jp/data/gene/3744.shtml CleanEx HS_KCNA10 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNA10 DOI 10.1006/geno.1997.4712 http://dx.doi.org/10.1006/geno.1997.4712 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1097/01.ASN.0000036866.37886.C5 http://dx.doi.org/10.1097/01.ASN.0000036866.37886.C5 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1133427 http://dx.doi.org/10.1126/science.1133427 DOI 10.1152/ajprenal.00258.2001 http://dx.doi.org/10.1152/ajprenal.00258.2001 DrugBank DB06637 http://www.drugbank.ca/drugs/DB06637 EMBL AL358215 http://www.ebi.ac.uk/ena/data/view/AL358215 EMBL BC074990 http://www.ebi.ac.uk/ena/data/view/BC074990 EMBL CH471122 http://www.ebi.ac.uk/ena/data/view/CH471122 EMBL U96110 http://www.ebi.ac.uk/ena/data/view/U96110 Ensembl ENST00000369771 http://www.ensembl.org/id/ENST00000369771 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0008076 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008076 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005221 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005221 GO_function GO:0005251 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005251 GO_process GO:0006813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006813 GO_process GO:0051260 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051260 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 Gene3D 1.20.120.350 http://www.cathdb.info/version/latest/superfamily/1.20.120.350 GeneCards KCNA10 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNA10 GeneID 3744 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=3744 GeneTree ENSGT00760000118846 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118846 H-InvDB HIX0200074 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0200074 HGNC HGNC:6219 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6219 HOGENOM HOG000231015 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231015&db=HOGENOM6 HOVERGEN HBG052230 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052230&db=HOVERGEN HPA CAB022564 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB022564 HPA HPA015061 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA015061 InParanoid Q16322 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q16322 IntAct Q16322 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q16322* InterPro IPR000210 http://www.ebi.ac.uk/interpro/entry/IPR000210 InterPro IPR003131 http://www.ebi.ac.uk/interpro/entry/IPR003131 InterPro IPR003968 http://www.ebi.ac.uk/interpro/entry/IPR003968 InterPro IPR003972 http://www.ebi.ac.uk/interpro/entry/IPR003972 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR011333 http://www.ebi.ac.uk/interpro/entry/IPR011333 InterPro IPR027359 http://www.ebi.ac.uk/interpro/entry/IPR027359 InterPro IPR028325 http://www.ebi.ac.uk/interpro/entry/IPR028325 Jabion 3744 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=3744 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:3744 http://www.genome.jp/dbget-bin/www_bget?hsa:3744 KEGG_Orthology KO:K04881 http://www.genome.jp/dbget-bin/www_bget?KO:K04881 MIM 602420 http://www.ncbi.nlm.nih.gov/omim/602420 OMA QNIPGEI http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=QNIPGEI OrthoDB EOG091G10NU http://cegg.unige.ch/orthodb/results?searchtext=EOG091G10NU PANTHER PTHR11537 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11537 PRINTS PR00169 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00169 PRINTS PR01491 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01491 PRINTS PR01496 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01496 PSORT swissprot:KCA10_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCA10_HUMAN PSORT-B swissprot:KCA10_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCA10_HUMAN PSORT2 swissprot:KCA10_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCA10_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF02214 http://pfam.xfam.org/family/PF02214 PharmGKB PA30020 http://www.pharmgkb.org/do/serve?objId=PA30020&objCls=Gene Phobius swissprot:KCA10_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCA10_HUMAN PhylomeDB Q16322 http://phylomedb.org/?seqid=Q16322 ProteinModelPortal Q16322 http://www.proteinmodelportal.org/query/uniprot/Q16322 PubMed 10836990 http://www.ncbi.nlm.nih.gov/pubmed/10836990 PubMed 12060596 http://www.ncbi.nlm.nih.gov/pubmed/12060596 PubMed 12444201 http://www.ncbi.nlm.nih.gov/pubmed/12444201 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 16959974 http://www.ncbi.nlm.nih.gov/pubmed/16959974 PubMed 9177773 http://www.ncbi.nlm.nih.gov/pubmed/9177773 Reactome R-HSA-1296072 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1296072 RefSeq NP_005540 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_005540 SMART SM00225 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00225 SMR Q16322 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q16322 STRING 9606.ENSP00000358786 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000358786&targetmode=cogs SUPFAM SSF54695 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF54695 UCSC uc001dzt http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001dzt&org=rat UniGene Hs.248140 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.248140 UniGene Hs.622910 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.622910 UniProtKB KCA10_HUMAN http://www.uniprot.org/uniprot/KCA10_HUMAN UniProtKB-AC Q16322 http://www.uniprot.org/uniprot/Q16322 charge swissprot:KCA10_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCA10_HUMAN eggNOG COG1226 http://eggnogapi.embl.de/nog_data/html/tree/COG1226 eggNOG KOG1545 http://eggnogapi.embl.de/nog_data/html/tree/KOG1545 epestfind swissprot:KCA10_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCA10_HUMAN garnier swissprot:KCA10_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCA10_HUMAN helixturnhelix swissprot:KCA10_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCA10_HUMAN hmoment swissprot:KCA10_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCA10_HUMAN iep swissprot:KCA10_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCA10_HUMAN inforesidue swissprot:KCA10_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCA10_HUMAN neXtProt NX_Q16322 http://www.nextprot.org/db/entry/NX_Q16322 octanol swissprot:KCA10_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCA10_HUMAN pepcoil swissprot:KCA10_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCA10_HUMAN pepdigest swissprot:KCA10_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCA10_HUMAN pepinfo swissprot:KCA10_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCA10_HUMAN pepnet swissprot:KCA10_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCA10_HUMAN pepstats swissprot:KCA10_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCA10_HUMAN pepwheel swissprot:KCA10_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCA10_HUMAN pepwindow swissprot:KCA10_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCA10_HUMAN sigcleave swissprot:KCA10_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCA10_HUMAN ## Database ID URL or Descriptions # AltName TOM70_HUMAN Mitochondrial precursor proteins import receptor # AltName TOM70_HUMAN Translocase of outer membrane 70 kDa subunit # AltName Translocase of outer mitochondrial membrane protein 70 {ECO:0000312|HGNC HGNC:11985} # BioGrid 115201 33 # ChiTaRS TOMM70A human # Ensembl ENST00000284320 ENSP00000284320; ENSG00000154174 # FUNCTION TOM70_HUMAN Receptor that accelerates the import of all mitochondrial precursor proteins. {ECO 0000250}. # GO_component GO:0005739 mitochondrion; IDA:HPA. # GO_component GO:0005741 mitochondrial outer membrane; TAS:Reactome. # GO_component GO:0005742 mitochondrial outer membrane translocase complex; TAS:BHF-UCL. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0008320 protein transmembrane transporter activity; TAS:BHF-UCL. # GO_process GO:0006626 protein targeting to mitochondrion; TAS:BHF-UCL. # GO_process GO:0016236 macroautophagy; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005739 mitochondrion # GOslim_component GO:0043226 organelle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0008565 protein transporter activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006605 protein targeting # GOslim_process GO:0006914 autophagy # Gene3D 1.25.40.10 -; 2. # Genevisible O94826 HS # HGNC HGNC:11985 TOMM70 # IntAct O94826 10 # InterPro IPR001440 TPR_1 # InterPro IPR011990 TPR-like_helical_dom # InterPro IPR013026 TPR-contain_dom # InterPro IPR019734 TPR_repeat # MIM 606081 gene # Organism TOM70_HUMAN Homo sapiens (Human) # PROSITE PS50005 TPR; 7 # PROSITE PS50293 TPR_REGION # Pfam PF00515 TPR_1 # Pfam PF13181 TPR_8; 4 # Proteomes UP000005640 Chromosome 3 # Reactome R-HSA-1268020 Mitochondrial protein import # Reactome R-HSA-5205685 Pink/Parkin Mediated Mitophagy # Reactome R-HSA-5689880 Ub-specific processing proteases # RecName TOM70_HUMAN Mitochondrial import receptor subunit TOM70 # RefSeq NP_055635 NM_014820.4 # SEQUENCE CAUTION Sequence=BAA34439.2; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the Tom70 family. {ECO 0000305}. # SIMILARITY Contains 10 TPR repeats. {ECO:0000255|PROSITE- ProRule PRU00339}. # SMART SM00028 TPR; 10 # SUBCELLULAR LOCATION TOM70_HUMAN Mitochondrion outer membrane {ECO 0000250}; Single-pass membrane protein {ECO 0000250}. # SUBUNIT Forms part of the preprotein translocase complex of the outer mitochondrial membrane (TOM complex) which consists of at least 7 different proteins (TOMM5, TOMM6, TOMM7, TOMM20, TOMM22, TOMM40 and TOMM70). Interacts with CAPN8 (By similarity). {ECO 0000250}. # SUPFAM SSF48452 SSF48452; 2 # UCSC uc003dtw human # eggNOG ENOG410YVNZ LUCA # eggNOG KOG0547 Eukaryota BLAST swissprot:TOM70_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:TOM70_HUMAN BioCyc ZFISH:ENSG00000154174-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000154174-MONOMER COXPRESdb 9868 http://coxpresdb.jp/data/gene/9868.shtml CleanEx HS_TOMM70A http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_TOMM70A DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1016/j.bbrc.2008.02.150 http://dx.doi.org/10.1016/j.bbrc.2008.02.150 DOI 10.1016/j.cell.2006.09.026 http://dx.doi.org/10.1016/j.cell.2006.09.026 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/ac9004309 http://dx.doi.org/10.1021/ac9004309 DOI 10.1021/pr0704130 http://dx.doi.org/10.1021/pr0704130 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1073/pnas.1210303109 http://dx.doi.org/10.1073/pnas.1210303109 DOI 10.1074/mcp.M111.015131 http://dx.doi.org/10.1074/mcp.M111.015131 DOI 10.1074/mcp.O113.027870 http://dx.doi.org/10.1074/mcp.O113.027870 DOI 10.1093/dnares/5.5.277 http://dx.doi.org/10.1093/dnares/5.5.277 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1175371 http://dx.doi.org/10.1126/science.1175371 DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 DOI 10.1126/scisignal.2001570 http://dx.doi.org/10.1126/scisignal.2001570 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AB018262 http://www.ebi.ac.uk/ena/data/view/AB018262 EMBL BC003633 http://www.ebi.ac.uk/ena/data/view/BC003633 EMBL BC052994 http://www.ebi.ac.uk/ena/data/view/BC052994 EMBL CH471052 http://www.ebi.ac.uk/ena/data/view/CH471052 EMBL CH471052 http://www.ebi.ac.uk/ena/data/view/CH471052 Ensembl ENST00000284320 http://www.ensembl.org/id/ENST00000284320 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005741 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005741 GO_component GO:0005742 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005742 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0008320 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008320 GO_process GO:0006626 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006626 GO_process GO:0016236 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016236 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006605 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006605 GOslim_process GO:0006914 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006914 Gene3D 1.25.40.10 http://www.cathdb.info/version/latest/superfamily/1.25.40.10 GeneCards TOMM70A http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=TOMM70A GeneID 9868 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=9868 GeneTree ENSGT00860000133798 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00860000133798 HGNC HGNC:11985 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11985 HOGENOM HOG000264237 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000264237&db=HOGENOM6 HOVERGEN HBG062335 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG062335&db=HOVERGEN HPA CAB017156 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB017156 HPA HPA014589 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA014589 HPA HPA048020 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA048020 InParanoid O94826 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O94826 IntAct O94826 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O94826* InterPro IPR001440 http://www.ebi.ac.uk/interpro/entry/IPR001440 InterPro IPR011990 http://www.ebi.ac.uk/interpro/entry/IPR011990 InterPro IPR013026 http://www.ebi.ac.uk/interpro/entry/IPR013026 InterPro IPR019734 http://www.ebi.ac.uk/interpro/entry/IPR019734 Jabion 9868 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=9868 KEGG_Gene hsa:9868 http://www.genome.jp/dbget-bin/www_bget?hsa:9868 MIM 606081 http://www.ncbi.nlm.nih.gov/omim/606081 MINT MINT-3002394 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-3002394 OMA KWTEVAQ http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=KWTEVAQ OrthoDB EOG091G0CYZ http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0CYZ PROSITE PS50005 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50005 PROSITE PS50293 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50293 PSORT swissprot:TOM70_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:TOM70_HUMAN PSORT-B swissprot:TOM70_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:TOM70_HUMAN PSORT2 swissprot:TOM70_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:TOM70_HUMAN Pfam PF00515 http://pfam.xfam.org/family/PF00515 Pfam PF13181 http://pfam.xfam.org/family/PF13181 PharmGKB PA36669 http://www.pharmgkb.org/do/serve?objId=PA36669&objCls=Gene Phobius swissprot:TOM70_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:TOM70_HUMAN PhylomeDB O94826 http://phylomedb.org/?seqid=O94826 ProteinModelPortal O94826 http://www.proteinmodelportal.org/query/uniprot/O94826 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 17081983 http://www.ncbi.nlm.nih.gov/pubmed/17081983 PubMed 18088087 http://www.ncbi.nlm.nih.gov/pubmed/18088087 PubMed 18331822 http://www.ncbi.nlm.nih.gov/pubmed/18331822 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 19413330 http://www.ncbi.nlm.nih.gov/pubmed/19413330 PubMed 19608861 http://www.ncbi.nlm.nih.gov/pubmed/19608861 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 21406692 http://www.ncbi.nlm.nih.gov/pubmed/21406692 PubMed 22223895 http://www.ncbi.nlm.nih.gov/pubmed/22223895 PubMed 22814378 http://www.ncbi.nlm.nih.gov/pubmed/22814378 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 24129315 http://www.ncbi.nlm.nih.gov/pubmed/24129315 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 9872452 http://www.ncbi.nlm.nih.gov/pubmed/9872452 Reactome R-HSA-1268020 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1268020 Reactome R-HSA-5205685 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5205685 Reactome R-HSA-5689880 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5689880 RefSeq NP_055635 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_055635 SMART SM00028 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00028 SMR O94826 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=O94826 STRING 9606.ENSP00000284320 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000284320&targetmode=cogs SUPFAM SSF48452 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48452 UCSC uc003dtw http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003dtw&org=rat UniGene Hs.227253 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.227253 UniProtKB TOM70_HUMAN http://www.uniprot.org/uniprot/TOM70_HUMAN UniProtKB-AC O94826 http://www.uniprot.org/uniprot/O94826 charge swissprot:TOM70_HUMAN http://rest.g-language.org/emboss/charge/swissprot:TOM70_HUMAN eggNOG ENOG410YVNZ http://eggnogapi.embl.de/nog_data/html/tree/ENOG410YVNZ eggNOG KOG0547 http://eggnogapi.embl.de/nog_data/html/tree/KOG0547 epestfind swissprot:TOM70_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:TOM70_HUMAN garnier swissprot:TOM70_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:TOM70_HUMAN helixturnhelix swissprot:TOM70_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:TOM70_HUMAN hmoment swissprot:TOM70_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:TOM70_HUMAN iep swissprot:TOM70_HUMAN http://rest.g-language.org/emboss/iep/swissprot:TOM70_HUMAN inforesidue swissprot:TOM70_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:TOM70_HUMAN neXtProt NX_O94826 http://www.nextprot.org/db/entry/NX_O94826 octanol swissprot:TOM70_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:TOM70_HUMAN pepcoil swissprot:TOM70_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:TOM70_HUMAN pepdigest swissprot:TOM70_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:TOM70_HUMAN pepinfo swissprot:TOM70_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:TOM70_HUMAN pepnet swissprot:TOM70_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:TOM70_HUMAN pepstats swissprot:TOM70_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:TOM70_HUMAN pepwheel swissprot:TOM70_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:TOM70_HUMAN pepwindow swissprot:TOM70_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:TOM70_HUMAN sigcleave swissprot:TOM70_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:TOM70_HUMAN ## Database ID URL or Descriptions # AltName SL9A2_HUMAN Na(+)/H(+) exchanger 2 # AltName SL9A2_HUMAN Solute carrier family 9 member 2 # BioGrid 112439 6 # CAUTION The number, localization and denomination of hydrophobic domains in the Na(+)/H(+) exchangers vary among authors. {ECO 0000305}. # Ensembl ENST00000233969 ENSP00000233969; ENSG00000115616 # FUNCTION SL9A2_HUMAN Involved in pH regulation to eliminate acids generated by active metabolism or to counter adverse environmental conditions. Major proton extruding system driven by the inward sodium ion chemical gradient. Seems to play an important role in colonic sodium absorption. # GO_component GO:0005886 plasma membrane; IBA:GO_Central. # GO_component GO:0016021 integral component of membrane; TAS:ProtInc. # GO_function SL9A2_HUMAN GO 0015385 sodium proton antiporter activity; TAS Reactome. # GO_function SL9A2_HUMAN GO 0015386 potassium proton antiporter activity; IBA GO_Central. # GO_process GO:0006811 ion transport; TAS:Reactome. # GO_process GO:0008104 protein localization; IEA:Ensembl. # GO_process GO:0051453 regulation of intracellular pH; IBA:GO_Central. # GO_process GO:0071805 potassium ion transmembrane transport; IBA:GO_Central. # GO_process GO:0098719 sodium ion import across plasma membrane; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Genevisible Q9UBY0 HS # HGNC HGNC:11072 SLC9A2 # InterPro IPR001953 Na/H_exchanger_2 # InterPro IPR004709 NaH_exchanger # InterPro IPR006153 Cation/H_exchanger # InterPro IPR018422 Cation/H_exchanger_CPA1 # InterPro IPR032103 NHE_CaM-bd # KEGG_Brite ko02001 Solute carrier family # MIM 600530 gene # Organism SL9A2_HUMAN Homo sapiens (Human) # PANTHER PTHR10110 PTHR10110 # PRINTS PR01084 NAHEXCHNGR # PRINTS PR01086 NAHEXCHNGR2 # PTM SL9A2_HUMAN Phosphorylated (Possible). # Pfam PF00999 Na_H_Exchanger # Pfam PF16644 NEXCaM_BD # Proteomes UP000005640 Chromosome 2 # Reactome R-HSA-425986 Sodium/Proton exchangers # RecName SL9A2_HUMAN Sodium/hydrogen exchanger 2 # RefSeq NP_003039 NM_003048.5 # SIMILARITY Belongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family. {ECO 0000305}. # SUBCELLULAR LOCATION SL9A2_HUMAN Membrane; Multi-pass membrane protein. # SUBUNIT Interacts with CHP1 and CHP2. {ECO 0000250}. # TCDB 2.A.36.1.17:the monovalent cation proton antiporter-1 (cpa1) family # TIGRFAMs TIGR00840 b_cpa1 # TISSUE SPECIFICITY SL9A2_HUMAN Expressed in skeletal muscle, colon and kidney. Lower levels in the testis, prostate, ovary, and small intestine. # UCSC uc002tca human # eggNOG COG0025 LUCA # eggNOG KOG1966 Eukaryota BLAST swissprot:SL9A2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SL9A2_HUMAN BioCyc ZFISH:ENSG00000115616-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000115616-MONOMER COXPRESdb 6549 http://coxpresdb.jp/data/gene/6549.shtml CleanEx HS_SLC9A2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC9A2 DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1133427 http://dx.doi.org/10.1126/science.1133427 EMBL AC007239 http://www.ebi.ac.uk/ena/data/view/AC007239 EMBL AF073299 http://www.ebi.ac.uk/ena/data/view/AF073299 EMBL BC136377 http://www.ebi.ac.uk/ena/data/view/BC136377 EMBL BC136378 http://www.ebi.ac.uk/ena/data/view/BC136378 EMBL CH471127 http://www.ebi.ac.uk/ena/data/view/CH471127 Ensembl ENST00000233969 http://www.ensembl.org/id/ENST00000233969 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0015385 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015385 GO_function GO:0015386 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015386 GO_process GO:0006811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006811 GO_process GO:0008104 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008104 GO_process GO:0051453 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051453 GO_process GO:0071805 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071805 GO_process GO:0098719 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0098719 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC9A2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC9A2 GeneID 6549 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6549 GeneTree ENSGT00760000119074 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119074 HGNC HGNC:11072 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11072 HOGENOM HOG000247044 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000247044&db=HOGENOM6 HOVERGEN HBG052615 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052615&db=HOVERGEN HPA HPA035121 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA035121 HPA HPA035122 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA035122 InParanoid Q9UBY0 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9UBY0 IntAct Q9UBY0 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9UBY0* InterPro IPR001953 http://www.ebi.ac.uk/interpro/entry/IPR001953 InterPro IPR004709 http://www.ebi.ac.uk/interpro/entry/IPR004709 InterPro IPR006153 http://www.ebi.ac.uk/interpro/entry/IPR006153 InterPro IPR018422 http://www.ebi.ac.uk/interpro/entry/IPR018422 InterPro IPR032103 http://www.ebi.ac.uk/interpro/entry/IPR032103 Jabion 6549 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6549 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:6549 http://www.genome.jp/dbget-bin/www_bget?hsa:6549 KEGG_Orthology KO:K14722 http://www.genome.jp/dbget-bin/www_bget?KO:K14722 MIM 600530 http://www.ncbi.nlm.nih.gov/omim/600530 OMA AYKMEWK http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=AYKMEWK OrthoDB EOG091G02Q0 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G02Q0 PANTHER PTHR10110 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10110 PRINTS PR01084 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01084 PRINTS PR01086 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01086 PSORT swissprot:SL9A2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SL9A2_HUMAN PSORT-B swissprot:SL9A2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SL9A2_HUMAN PSORT2 swissprot:SL9A2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SL9A2_HUMAN Pfam PF00999 http://pfam.xfam.org/family/PF00999 Pfam PF16644 http://pfam.xfam.org/family/PF16644 PharmGKB PA35929 http://www.pharmgkb.org/do/serve?objId=PA35929&objCls=Gene Phobius swissprot:SL9A2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SL9A2_HUMAN PhylomeDB Q9UBY0 http://phylomedb.org/?seqid=Q9UBY0 ProteinModelPortal Q9UBY0 http://www.proteinmodelportal.org/query/uniprot/Q9UBY0 PubMed 10444453 http://www.ncbi.nlm.nih.gov/pubmed/10444453 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 PubMed 16959974 http://www.ncbi.nlm.nih.gov/pubmed/16959974 Reactome R-HSA-425986 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-425986 RefSeq NP_003039 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_003039 SMR Q9UBY0 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9UBY0 STRING 9606.ENSP00000233969 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000233969&targetmode=cogs TCDB 2.A.36.1.17 http://www.tcdb.org/search/result.php?tc=2.A.36.1.17 TIGRFAMs TIGR00840 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00840 UCSC uc002tca http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002tca&org=rat UniGene Hs.250083 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.250083 UniProtKB SL9A2_HUMAN http://www.uniprot.org/uniprot/SL9A2_HUMAN UniProtKB-AC Q9UBY0 http://www.uniprot.org/uniprot/Q9UBY0 charge swissprot:SL9A2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SL9A2_HUMAN eggNOG COG0025 http://eggnogapi.embl.de/nog_data/html/tree/COG0025 eggNOG KOG1966 http://eggnogapi.embl.de/nog_data/html/tree/KOG1966 epestfind swissprot:SL9A2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SL9A2_HUMAN garnier swissprot:SL9A2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SL9A2_HUMAN helixturnhelix swissprot:SL9A2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SL9A2_HUMAN hmoment swissprot:SL9A2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SL9A2_HUMAN iep swissprot:SL9A2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SL9A2_HUMAN inforesidue swissprot:SL9A2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SL9A2_HUMAN neXtProt NX_Q9UBY0 http://www.nextprot.org/db/entry/NX_Q9UBY0 octanol swissprot:SL9A2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SL9A2_HUMAN pepcoil swissprot:SL9A2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SL9A2_HUMAN pepdigest swissprot:SL9A2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SL9A2_HUMAN pepinfo swissprot:SL9A2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SL9A2_HUMAN pepnet swissprot:SL9A2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SL9A2_HUMAN pepstats swissprot:SL9A2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SL9A2_HUMAN pepwheel swissprot:SL9A2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SL9A2_HUMAN pepwindow swissprot:SL9A2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SL9A2_HUMAN sigcleave swissprot:SL9A2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SL9A2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS NCKX5_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q71RS6-1; Sequence=Displayed; Name=2; IsoId=Q71RS6-2; Sequence=VSP_047596; # AltName NCKX5_HUMAN Na(+)/K(+)/Ca(2+)-exchange protein 5 # AltName NCKX5_HUMAN Solute carrier family 24 member 5 # BioGrid 129632 3 # CCDS CCDS10128 -. [Q71RS6-1] # ChiTaRS SLC24A5 human # DISEASE NCKX5_HUMAN Albinism, oculocutaneous, 6 (OCA6) [MIM 113750] A disorder characterized by a reduction or complete loss of melanin in the skin, hair and eyes. Patients show reduced or lacking pigmentation often accompanied by eye symptoms such as photophobia, strabismus, moderate to severe visual impairment, and nystagmus. {ECO 0000269|PubMed 23364476}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000341459 ENSP00000341550; ENSG00000188467. [Q71RS6-1] # Ensembl ENST00000449382 ENSP00000389966; ENSG00000188467. [Q71RS6-2] # ExpressionAtlas Q71RS6 baseline and differential # FUNCTION NCKX5_HUMAN Cation exchanger involved in pigmentation, possibly by participating in ion transport in melanosomes. Predominant sodium- Calcium exchanger in melanocytes. Probably transports 1 Ca(2+) and 1 K(+) to the melanosome in exchange for 4 cytoplasmic Na(+). {ECO 0000269|PubMed 16357253, ECO 0000269|PubMed 18166528}. # GO_component GO:0005802 trans-Golgi network; IDA:MGI. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0032588 trans-Golgi network membrane; TAS:Reactome. # GO_component GO:0042470 melanosome; IEA:UniProtKB-SubCell. # GO_function GO:0005262 calcium channel activity; IBA:GO_Central. # GO_function GO:0005509 calcium ion binding; IBA:GO_Central. # GO_function GO:0015293 symporter activity; IEA:UniProtKB-KW. # GO_function GO:0030955 potassium ion binding; IBA:GO_Central. # GO_function GO:0031402 sodium ion binding; IBA:GO_Central. # GO_function NCKX5_HUMAN GO 0008273 calcium, potassium sodium antiporter activity; IDA MGI. # GO_process GO:0006811 ion transport; TAS:Reactome. # GO_process GO:0006874 cellular calcium ion homeostasis; IBA:GO_Central. # GO_process GO:0034220 ion transmembrane transport; IDA:MGI. # GO_process GO:0048022 negative regulation of melanin biosynthetic process; IEA:Ensembl. # GO_process GO:0050896 response to stimulus; IEA:UniProtKB-KW. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0031410 cytoplasmic vesicle # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # HGNC HGNC:20611 SLC24A5 # InterPro IPR004481 K/Na/Ca-exchanger # InterPro IPR004837 NaCa_Exmemb # InterPro IPR030245 SLC24A5 # KEGG_Brite ko02001 Solute carrier family # MIM 113750 phenotype # MIM 609802 gene # Organism NCKX5_HUMAN Homo sapiens (Human) # Orphanet 370097 Oculocutaneous albinism type 6 # PANTHER PTHR10846 PTHR10846 # PANTHER PTHR10846:SF27 PTHR10846:SF27 # POLYMORPHISM Genetic variants in SLC24A5 define the skin/hair/eye pigmentation variation locus 4 (SHEP4) [MIM:113750]. Hair, eye and skin pigmentation are among the most visible examples of human phenotypic variation, with a broad normal range that is subject to substantial geographic stratification. In the case of skin, individuals tend to have lighter pigmentation with increasing distance from the equator. By contrast, the majority of variation in human eye and hair color is found among individuals of European ancestry, with most other human populations fixed for brown eyes and black hair. {ECO 0000269|PubMed:17999355}. # POLYMORPHISM The Ala-111 allele predominates (93 to 100%) in African and East Asian populations. In contrast, the Thr-111 allele is nearly fixed (98.7 to 100%) in European populations, is associated with a substantial reduction in regional heterozygosity, and correlates with lighter skin pigmentation in admixed populations. {ECO:0000269|PubMed 17999355}. # Pfam PF01699 Na_Ca_ex; 2 # Proteomes UP000005640 Chromosome 15 # Reactome R-HSA-425561 Sodium/Calcium exchangers # RecName NCKX5_HUMAN Sodium/potassium/calcium exchanger 5 # RefSeq NP_995322 NM_205850.2. [Q71RS6-1] # SIMILARITY Belongs to the Ca(2+):cation antiporter (CaCA) (TC 2.A.19) family. SLC24A subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION NCKX5_HUMAN Golgi apparatus, trans-Golgi network membrane {ECO 0000269|PubMed 18166528}; Multi-pass membrane protein {ECO 0000269|PubMed 18166528}. Melanosome {ECO 0000269|PubMed 17081065}. Note=Enriched in late-stage melanosomes (PubMed 17081065). # TCDB 2.A.19.4:the ca(2+) cation antiporter (caca) family # TIGRFAMs TIGR00367 TIGR00367 # UCSC uc001zwe human. [Q71RS6-1] # WEB RESOURCE NCKX5_HUMAN Name=Protein Spotlight; Note=Skin-deep - Issue 74 of September 2006; URL="http //web.expasy.org/spotlight/back_issues/074"; # eggNOG ENOG410Y9YY LUCA # eggNOG KOG1307 Eukaryota BLAST swissprot:NCKX5_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:NCKX5_HUMAN BioCyc ZFISH:G66-32021-MONOMER http://biocyc.org/getid?id=ZFISH:G66-32021-MONOMER COXPRESdb 283652 http://coxpresdb.jp/data/gene/283652.shtml CleanEx HS_SLC24A5 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC24A5 DOI 10.1021/pr060363j http://dx.doi.org/10.1021/pr060363j DOI 10.1038/jid.2013.49 http://dx.doi.org/10.1038/jid.2013.49 DOI 10.1038/nature04601 http://dx.doi.org/10.1038/nature04601 DOI 10.1074/jbc.M707521200 http://dx.doi.org/10.1074/jbc.M707521200 DOI 10.1086/522235 http://dx.doi.org/10.1086/522235 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1116238 http://dx.doi.org/10.1126/science.1116238 EMBL AC090526 http://www.ebi.ac.uk/ena/data/view/AC090526 EMBL AF348468 http://www.ebi.ac.uk/ena/data/view/AF348468 EMBL BC073944 http://www.ebi.ac.uk/ena/data/view/BC073944 EMBL BC113628 http://www.ebi.ac.uk/ena/data/view/BC113628 EMBL BC113630 http://www.ebi.ac.uk/ena/data/view/BC113630 EMBL BC143950 http://www.ebi.ac.uk/ena/data/view/BC143950 EMBL DQ665306 http://www.ebi.ac.uk/ena/data/view/DQ665306 EMBL DQ665307 http://www.ebi.ac.uk/ena/data/view/DQ665307 Ensembl ENST00000341459 http://www.ensembl.org/id/ENST00000341459 Ensembl ENST00000449382 http://www.ensembl.org/id/ENST00000449382 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005802 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005802 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0032588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032588 GO_component GO:0042470 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042470 GO_function GO:0005262 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005262 GO_function GO:0005509 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005509 GO_function GO:0008273 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008273 GO_function GO:0015293 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015293 GO_function GO:0030955 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030955 GO_function GO:0031402 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031402 GO_process GO:0006811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006811 GO_process GO:0006874 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006874 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0048022 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048022 GO_process GO:0050896 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050896 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0031410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC24A5 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC24A5 GeneID 283652 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=283652 GeneTree ENSGT00760000119209 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119209 H-InvDB HIX0012216 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0012216 HGNC HGNC:20611 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:20611 HOGENOM HOG000231933 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231933&db=HOGENOM6 HOVERGEN HBG054881 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG054881&db=HOVERGEN InParanoid Q71RS6 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q71RS6 IntAct Q71RS6 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q71RS6* InterPro IPR004481 http://www.ebi.ac.uk/interpro/entry/IPR004481 InterPro IPR004837 http://www.ebi.ac.uk/interpro/entry/IPR004837 InterPro IPR030245 http://www.ebi.ac.uk/interpro/entry/IPR030245 Jabion 283652 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=283652 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:283652 http://www.genome.jp/dbget-bin/www_bget?hsa:283652 KEGG_Orthology KO:K13753 http://www.genome.jp/dbget-bin/www_bget?KO:K13753 MIM 113750 http://www.ncbi.nlm.nih.gov/omim/113750 MIM 609802 http://www.ncbi.nlm.nih.gov/omim/609802 OMA CSPCCAC http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=CSPCCAC Orphanet 370097 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=370097 OrthoDB EOG091G0M5C http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0M5C PANTHER PTHR10846 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10846 PANTHER PTHR10846:SF27 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10846:SF27 PSORT swissprot:NCKX5_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:NCKX5_HUMAN PSORT-B swissprot:NCKX5_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:NCKX5_HUMAN PSORT2 swissprot:NCKX5_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:NCKX5_HUMAN Pfam PF01699 http://pfam.xfam.org/family/PF01699 PharmGKB PA134868972 http://www.pharmgkb.org/do/serve?objId=PA134868972&objCls=Gene Phobius swissprot:NCKX5_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:NCKX5_HUMAN PhylomeDB Q71RS6 http://phylomedb.org/?seqid=Q71RS6 ProteinModelPortal Q71RS6 http://www.proteinmodelportal.org/query/uniprot/Q71RS6 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16357253 http://www.ncbi.nlm.nih.gov/pubmed/16357253 PubMed 16572171 http://www.ncbi.nlm.nih.gov/pubmed/16572171 PubMed 17081065 http://www.ncbi.nlm.nih.gov/pubmed/17081065 PubMed 17999355 http://www.ncbi.nlm.nih.gov/pubmed/17999355 PubMed 18166528 http://www.ncbi.nlm.nih.gov/pubmed/18166528 PubMed 23364476 http://www.ncbi.nlm.nih.gov/pubmed/23364476 Reactome R-HSA-425561 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-425561 RefSeq NP_995322 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_995322 STRING 9606.ENSP00000341550 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000341550&targetmode=cogs TCDB 2.A.19.4 http://www.tcdb.org/search/result.php?tc=2.A.19.4 TIGRFAMs TIGR00367 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00367 UCSC uc001zwe http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001zwe&org=rat UniGene Hs.710240 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.710240 UniProtKB NCKX5_HUMAN http://www.uniprot.org/uniprot/NCKX5_HUMAN UniProtKB-AC Q71RS6 http://www.uniprot.org/uniprot/Q71RS6 charge swissprot:NCKX5_HUMAN http://rest.g-language.org/emboss/charge/swissprot:NCKX5_HUMAN eggNOG ENOG410Y9YY http://eggnogapi.embl.de/nog_data/html/tree/ENOG410Y9YY eggNOG KOG1307 http://eggnogapi.embl.de/nog_data/html/tree/KOG1307 epestfind swissprot:NCKX5_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:NCKX5_HUMAN garnier swissprot:NCKX5_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:NCKX5_HUMAN helixturnhelix swissprot:NCKX5_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:NCKX5_HUMAN hmoment swissprot:NCKX5_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:NCKX5_HUMAN iep swissprot:NCKX5_HUMAN http://rest.g-language.org/emboss/iep/swissprot:NCKX5_HUMAN inforesidue swissprot:NCKX5_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:NCKX5_HUMAN neXtProt NX_Q71RS6 http://www.nextprot.org/db/entry/NX_Q71RS6 octanol swissprot:NCKX5_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:NCKX5_HUMAN pepcoil swissprot:NCKX5_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:NCKX5_HUMAN pepdigest swissprot:NCKX5_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:NCKX5_HUMAN pepinfo swissprot:NCKX5_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:NCKX5_HUMAN pepnet swissprot:NCKX5_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:NCKX5_HUMAN pepstats swissprot:NCKX5_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:NCKX5_HUMAN pepwheel swissprot:NCKX5_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:NCKX5_HUMAN pepwindow swissprot:NCKX5_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:NCKX5_HUMAN sigcleave swissprot:NCKX5_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:NCKX5_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S47A2_HUMAN Event=Alternative splicing; Named isoforms=6; Name=1; IsoId=Q86VL8-1; Sequence=Displayed; Name=2; IsoId=Q86VL8-2; Sequence=VSP_029656, VSP_029658, VSP_029663, VSP_029664; Note=No experimental confirmation available.; Name=3; Synonyms=MATE2-K; IsoId=Q86VL8-3; Sequence=VSP_029658; Note=No experimental confirmation available.; Name=4; IsoId=Q86VL8-4; Sequence=VSP_029658, VSP_029662; Note=No experimental confirmation available.; Name=5; IsoId=Q86VL8-5; Sequence=VSP_029658, VSP_029660, VSP_029661; Note=No experimental confirmation available.; Name=6; Synonyms=MATE2-B; IsoId=Q86VL8-6; Sequence=VSP_029657, VSP_029659; Note=Inactive. Note=No experimental confirmation available.; # AltName S47A2_HUMAN Kidney-specific H(+)/organic cation antiporter # AltName S47A2_HUMAN Solute carrier family 47 member 2 # BIOPHYSICOCHEMICAL PROPERTIES S47A2_HUMAN Kinetic parameters KM=0.76 mM for TEA {ECO 0000269|PubMed 16807400, ECO 0000269|PubMed 17509534}; KM=0.11 mM for MPP {ECO 0000269|PubMed 16807400, ECO 0000269|PubMed 17509534}; KM=0.12 mM for cimetidine {ECO 0000269|PubMed 16807400, ECO 0000269|PubMed 17509534}; KM=1.98 mM for metformin {ECO 0000269|PubMed 16807400, ECO 0000269|PubMed 17509534}; KM=4.2 mM for guanidine {ECO 0000269|PubMed 16807400, ECO 0000269|PubMed 17509534}; KM=1.58 mM for procainamide {ECO 0000269|PubMed 16807400, ECO 0000269|PubMed 17509534}; KM=0.06 mM for topotecan {ECO 0000269|PubMed 16807400, ECO 0000269|PubMed 17509534}; KM=0.85 mM for estrone sulfate {ECO 0000269|PubMed 16807400, ECO 0000269|PubMed 17509534}; KM=4.32 mM for acyclovir {ECO 0000269|PubMed 16807400, ECO 0000269|PubMed 17509534}; KM=4.28 mM for ganciclovir {ECO 0000269|PubMed 16807400, ECO 0000269|PubMed 17509534}; Vmax=0.88 nmol/min/mg enzyme toward TEA {ECO 0000269|PubMed 16807400, ECO 0000269|PubMed 17509534}; Vmax=0.575 nmol/min/mg enzyme toward MPP {ECO 0000269|PubMed 16807400, ECO 0000269|PubMed 17509534}; Vmax=0.115 nmol/min/mg enzyme toward cimetidine {ECO 0000269|PubMed 16807400, ECO 0000269|PubMed 17509534}; Vmax=0.845 nmol/min/mg enzyme toward metformin {ECO 0000269|PubMed 16807400, ECO 0000269|PubMed 17509534}; Vmax=0.58 nmol/min/mg enzyme toward guanidine {ECO 0000269|PubMed 16807400, ECO 0000269|PubMed 17509534}; Vmax=3.385 nmol/min/mg enzyme toward procainamide {ECO 0000269|PubMed 16807400, ECO 0000269|PubMed 17509534}; Vmax=0.13 nmol/min/mg enzyme toward topotecan {ECO 0000269|PubMed 16807400, ECO 0000269|PubMed 17509534}; Vmax=0.425 nmol/min/mg enzyme toward estrone sulfate {ECO 0000269|PubMed 16807400, ECO 0000269|PubMed 17509534}; Vmax=0.945 nmol/min/mg enzyme toward acyclovir {ECO 0000269|PubMed 16807400, ECO 0000269|PubMed 17509534}; Vmax=0.805 nmol/min/mg enzyme toward ganciclovir {ECO 0000269|PubMed 16807400, ECO 0000269|PubMed 17509534}; pH dependence Optimum pH is 9.0. Active from pH 6 to 9. {ECO 0000269|PubMed 16807400, ECO 0000269|PubMed 17509534}; # CCDS CCDS11211 -. [Q86VL8-1] # CCDS CCDS58530 -. [Q86VL8-4] # DrugBank DB00787 Aciclovir # Ensembl ENST00000325411 ENSP00000326671; ENSG00000180638. [Q86VL8-1] # Ensembl ENST00000350657 ENSP00000338084; ENSG00000180638. [Q86VL8-4] # Ensembl ENST00000574239 ENSP00000458694; ENSG00000180638. [Q86VL8-6] # ExpressionAtlas Q86VL8 baseline and differential # FUNCTION S47A2_HUMAN Solute transporter for tetraethylammonium (TEA), 1- methyl-4-phenylpyridinium (MPP), cimetidine, N-methylnicotinamide, metformin, creatinine, guanidine, procainamide, topotecan, estrone sulfate, acyclovir, and ganciclovir. Responsible for the secretion of cationic drugs across the brush border membranes. {ECO 0000269|PubMed 16807400, ECO 0000269|PubMed 16996621, ECO 0000269|PubMed 17509534}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0015238 drug transmembrane transporter activity; IBA:GO_Central. # GO_function S47A2_HUMAN GO 0015307 drug proton antiporter activity; TAS Reactome. # GO_process GO:0006855 drug transmembrane transport; IBA:GO_Central. # GO_process GO:0055085 transmembrane transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0055085 transmembrane transport # Genevisible Q86VL8 HS # HGNC HGNC:26439 SLC47A2 # InterPro IPR002528 MATE_fam # KEGG_Brite ko02001 Solute carrier family # MIM 609833 gene # Organism S47A2_HUMAN Homo sapiens (Human) # Pfam PF01554 MatE; 2 # Proteomes UP000005640 Chromosome 17 # Reactome R-HSA-425366 Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds # RecName S47A2_HUMAN Multidrug and toxin extrusion protein 2 # RefSeq NP_001093116 NM_001099646.1. [Q86VL8-3] # RefSeq NP_001243592 NM_001256663.1. [Q86VL8-4] # RefSeq NP_690872 NM_152908.3. [Q86VL8-1] # SIMILARITY Belongs to the multi antimicrobial extrusion (MATE) (TC 2.A.66.1) family. {ECO 0000305}. # SUBCELLULAR LOCATION S47A2_HUMAN Cell membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. Note=Localized at the brush border membranes of the proximal tubules. # TCDB 2.A.66.1.20 the multidrug/oligosaccharidyl-lipid/polysaccharide (mop) flippase superfamily # TIGRFAMs TIGR00797 matE # TISSUE SPECIFICITY Isoform 3 is predominantly expressed in kidney. Isoform 6 is expressed in brain. {ECO:0000269|PubMed 16807400}. # UCSC uc002gwe human. [Q86VL8-1] # eggNOG COG0534 LUCA # eggNOG KOG1347 Eukaryota BLAST swissprot:S47A2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S47A2_HUMAN COG COG0534 http://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=COG0534 COXPRESdb 146802 http://coxpresdb.jp/data/gene/146802.shtml CleanEx HS_SLC47A2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC47A2 DOI 10.1016/j.bcp.2007.04.010 http://dx.doi.org/10.1016/j.bcp.2007.04.010 DOI 10.1016/j.tips.2006.09.001 http://dx.doi.org/10.1016/j.tips.2006.09.001 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 DOI 10.1681/ASN.2006030205 http://dx.doi.org/10.1681/ASN.2006030205 DrugBank DB00787 http://www.drugbank.ca/drugs/DB00787 EMBL AB250364 http://www.ebi.ac.uk/ena/data/view/AB250364 EMBL AB250701 http://www.ebi.ac.uk/ena/data/view/AB250701 EMBL AK055758 http://www.ebi.ac.uk/ena/data/view/AK055758 EMBL BC035288 http://www.ebi.ac.uk/ena/data/view/BC035288 EMBL BC050578 http://www.ebi.ac.uk/ena/data/view/BC050578 EMBL BX648861 http://www.ebi.ac.uk/ena/data/view/BX648861 EMBL CH471212 http://www.ebi.ac.uk/ena/data/view/CH471212 EMBL CH471212 http://www.ebi.ac.uk/ena/data/view/CH471212 EMBL CH471212 http://www.ebi.ac.uk/ena/data/view/CH471212 Ensembl ENST00000325411 http://www.ensembl.org/id/ENST00000325411 Ensembl ENST00000350657 http://www.ensembl.org/id/ENST00000350657 Ensembl ENST00000574239 http://www.ensembl.org/id/ENST00000574239 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0015238 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015238 GO_function GO:0015307 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015307 GO_process GO:0006855 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006855 GO_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC47A2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC47A2 GeneID 146802 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=146802 GeneTree ENSGT00390000015713 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000015713 H-InvDB HIX0039367 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0039367 HGNC HGNC:26439 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:26439 HOGENOM HOG000060313 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000060313&db=HOGENOM6 HOVERGEN HBG056043 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG056043&db=HOVERGEN InParanoid Q86VL8 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q86VL8 InterPro IPR002528 http://www.ebi.ac.uk/interpro/entry/IPR002528 Jabion 146802 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=146802 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:146802 http://www.genome.jp/dbget-bin/www_bget?hsa:146802 KEGG_Orthology KO:K03327 http://www.genome.jp/dbget-bin/www_bget?KO:K03327 MIM 609833 http://www.ncbi.nlm.nih.gov/omim/609833 MINT MINT-4723030 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-4723030 OMA IVACYHV http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=IVACYHV OrthoDB EOG091G06X2 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G06X2 PSORT swissprot:S47A2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S47A2_HUMAN PSORT-B swissprot:S47A2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S47A2_HUMAN PSORT2 swissprot:S47A2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S47A2_HUMAN Pfam PF01554 http://pfam.xfam.org/family/PF01554 PharmGKB PA162403847 http://www.pharmgkb.org/do/serve?objId=PA162403847&objCls=Gene Phobius swissprot:S47A2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S47A2_HUMAN PhylomeDB Q86VL8 http://phylomedb.org/?seqid=Q86VL8 ProteinModelPortal Q86VL8 http://www.proteinmodelportal.org/query/uniprot/Q86VL8 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16807400 http://www.ncbi.nlm.nih.gov/pubmed/16807400 PubMed 16996621 http://www.ncbi.nlm.nih.gov/pubmed/16996621 PubMed 17509534 http://www.ncbi.nlm.nih.gov/pubmed/17509534 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 Reactome R-HSA-425366 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-425366 RefSeq NP_001093116 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001093116 RefSeq NP_001243592 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001243592 RefSeq NP_690872 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_690872 STRING 9606.ENSP00000326671 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000326671&targetmode=cogs STRING COG0534 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=COG0534&targetmode=cogs TCDB 2.A.66.1.20 http://www.tcdb.org/search/result.php?tc=2.A.66.1.20 TIGRFAMs TIGR00797 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00797 UCSC uc002gwe http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002gwe&org=rat UniGene Hs.126830 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.126830 UniProtKB S47A2_HUMAN http://www.uniprot.org/uniprot/S47A2_HUMAN UniProtKB-AC Q86VL8 http://www.uniprot.org/uniprot/Q86VL8 charge swissprot:S47A2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S47A2_HUMAN eggNOG COG0534 http://eggnogapi.embl.de/nog_data/html/tree/COG0534 eggNOG KOG1347 http://eggnogapi.embl.de/nog_data/html/tree/KOG1347 epestfind swissprot:S47A2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S47A2_HUMAN garnier swissprot:S47A2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S47A2_HUMAN helixturnhelix swissprot:S47A2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S47A2_HUMAN hmoment swissprot:S47A2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S47A2_HUMAN iep swissprot:S47A2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S47A2_HUMAN inforesidue swissprot:S47A2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S47A2_HUMAN neXtProt NX_Q86VL8 http://www.nextprot.org/db/entry/NX_Q86VL8 octanol swissprot:S47A2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S47A2_HUMAN pepcoil swissprot:S47A2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S47A2_HUMAN pepdigest swissprot:S47A2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S47A2_HUMAN pepinfo swissprot:S47A2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S47A2_HUMAN pepnet swissprot:S47A2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S47A2_HUMAN pepstats swissprot:S47A2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S47A2_HUMAN pepwheel swissprot:S47A2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S47A2_HUMAN pepwindow swissprot:S47A2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S47A2_HUMAN sigcleave swissprot:S47A2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S47A2_HUMAN ## Database ID URL or Descriptions # AltName MPC1_HUMAN Brain protein 44-like protein # DISEASE MPC1_HUMAN Mitochondrial pyruvate carrier deficiency (MPYCD) [MIM 614741] An autosomal recessive metabolic disorder characterized by severely delayed psychomotor development, mild dysmorphic features, hepatomegaly, marked metabolic acidosis, hyperlactacidemia with normal lactate/pyruvate, and encephalopathy. Some patients have epilepsy and peripheral neuropathy. {ECO 0000269|PubMed 22628558}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000360961 ENSP00000354223; ENSG00000060762 # ExpressionAtlas Q9Y5U8 baseline and differential # FUNCTION MPC1_HUMAN Mediates the uptake of pyruvate into mitochondria. {ECO 0000269|PubMed 22628558}. # GO_component GO:0005739 mitochondrion; IDA:HPA. # GO_component GO:0005743 mitochondrial inner membrane; IEA:UniProtKB-SubCell. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0050833 pyruvate transmembrane transporter activity; IEA:Ensembl. # GO_process GO:0061732 mitochondrial acetyl-CoA biosynthetic process from pyruvate; IEA:Ensembl. # GO_process GO:1902361 mitochondrial pyruvate transmembrane transport; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005739 mitochondrion # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006790 sulfur compound metabolic process # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0044281 small molecule metabolic process # GOslim_process GO:0051186 cofactor metabolic process # GOslim_process GO:0055085 transmembrane transport # Genevisible Q9Y5U8 HS # HGNC HGNC:21606 MPC1 # IntAct Q9Y5U8 3 # InterPro IPR005336 MPC # MIM 614738 gene # MIM 614741 phenotype # Organism MPC1_HUMAN Homo sapiens (Human) # Pfam PF03650 MPC # Proteomes UP000005640 Chromosome 6 # Reactome R-HSA-70268 Pyruvate metabolism # RecName MPC1_HUMAN Mitochondrial pyruvate carrier 1 # RefSeq NP_057182 NM_016098.3 # SEQUENCE CAUTION Sequence=AAG23822.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the mitochondrial pyruvate carrier (MPC) (TC 2.A.105) family. {ECO 0000305}. # SUBCELLULAR LOCATION MPC1_HUMAN Mitochondrion inner membrane {ECO 0000269|PubMed 22628558}; Multi-pass membrane protein {ECO 0000269|PubMed 22628558}. # SUBUNIT The functional 150 kDa pyruvate import complex is a heteromer of MPC1 and MPC2. {ECO:0000250|UniProtKB P63030}. # TCDB 2.A.105.1 the mitochondrial pyruvate carrier (mpc) family # UCSC uc063svb human # eggNOG ENOG4111TU9 LUCA # eggNOG KOG1590 Eukaryota BLAST swissprot:MPC1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:MPC1_HUMAN BioCyc ZFISH:ENSG00000060762-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000060762-MONOMER COXPRESdb 51660 http://coxpresdb.jp/data/gene/51660.shtml CleanEx HS_BRP44L http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_BRP44L DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1038/nature02055 http://dx.doi.org/10.1038/nature02055 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.10.5.703 http://dx.doi.org/10.1101/gr.10.5.703 DOI 10.1101/gr.140200 http://dx.doi.org/10.1101/gr.140200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1218099 http://dx.doi.org/10.1126/science.1218099 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AF125101 http://www.ebi.ac.uk/ena/data/view/AF125101 EMBL AF151887 http://www.ebi.ac.uk/ena/data/view/AF151887 EMBL AF275811 http://www.ebi.ac.uk/ena/data/view/AF275811 EMBL AK312201 http://www.ebi.ac.uk/ena/data/view/AK312201 EMBL AL022069 http://www.ebi.ac.uk/ena/data/view/AL022069 EMBL BC000810 http://www.ebi.ac.uk/ena/data/view/BC000810 Ensembl ENST00000360961 http://www.ensembl.org/id/ENST00000360961 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0050833 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050833 GO_process GO:0061732 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061732 GO_process GO:1902361 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902361 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006790 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006790 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GOslim_process GO:0051186 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051186 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards MPC1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=MPC1 GeneID 51660 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=51660 GeneTree ENSGT00510000046988 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00510000046988 HGNC HGNC:21606 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:21606 HOGENOM HOG000188911 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000188911&db=HOGENOM6 HOVERGEN HBG050728 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050728&db=HOVERGEN HPA HPA045119 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA045119 HPA HPA055790 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA055790 InParanoid Q9Y5U8 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9Y5U8 IntAct Q9Y5U8 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9Y5U8* InterPro IPR005336 http://www.ebi.ac.uk/interpro/entry/IPR005336 Jabion 51660 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=51660 KEGG_Gene hsa:51660 http://www.genome.jp/dbget-bin/www_bget?hsa:51660 MIM 614738 http://www.ncbi.nlm.nih.gov/omim/614738 MIM 614741 http://www.ncbi.nlm.nih.gov/omim/614741 OMA CHFANET http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=CHFANET PSORT swissprot:MPC1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:MPC1_HUMAN PSORT-B swissprot:MPC1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:MPC1_HUMAN PSORT2 swissprot:MPC1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:MPC1_HUMAN Pfam PF03650 http://pfam.xfam.org/family/PF03650 PharmGKB PA134940737 http://www.pharmgkb.org/do/serve?objId=PA134940737&objCls=Gene Phobius swissprot:MPC1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:MPC1_HUMAN PhylomeDB Q9Y5U8 http://phylomedb.org/?seqid=Q9Y5U8 ProteinModelPortal Q9Y5U8 http://www.proteinmodelportal.org/query/uniprot/Q9Y5U8 PubMed 10810093 http://www.ncbi.nlm.nih.gov/pubmed/10810093 PubMed 11042152 http://www.ncbi.nlm.nih.gov/pubmed/11042152 PubMed 14574404 http://www.ncbi.nlm.nih.gov/pubmed/14574404 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 22628558 http://www.ncbi.nlm.nih.gov/pubmed/22628558 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 Reactome R-HSA-70268 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-70268 RefSeq NP_057182 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_057182 STRING 9606.ENSP00000354223 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000354223&targetmode=cogs TCDB 2.A.105.1 http://www.tcdb.org/search/result.php?tc=2.A.105.1 UCSC uc063svb http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc063svb&org=rat UniGene Hs.172755 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.172755 UniProtKB MPC1_HUMAN http://www.uniprot.org/uniprot/MPC1_HUMAN UniProtKB-AC Q9Y5U8 http://www.uniprot.org/uniprot/Q9Y5U8 charge swissprot:MPC1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:MPC1_HUMAN eggNOG ENOG4111TU9 http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111TU9 eggNOG KOG1590 http://eggnogapi.embl.de/nog_data/html/tree/KOG1590 epestfind swissprot:MPC1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:MPC1_HUMAN garnier swissprot:MPC1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:MPC1_HUMAN helixturnhelix swissprot:MPC1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:MPC1_HUMAN hmoment swissprot:MPC1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:MPC1_HUMAN iep swissprot:MPC1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:MPC1_HUMAN inforesidue swissprot:MPC1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:MPC1_HUMAN neXtProt NX_Q9Y5U8 http://www.nextprot.org/db/entry/NX_Q9Y5U8 octanol swissprot:MPC1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:MPC1_HUMAN pepcoil swissprot:MPC1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:MPC1_HUMAN pepdigest swissprot:MPC1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:MPC1_HUMAN pepinfo swissprot:MPC1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:MPC1_HUMAN pepnet swissprot:MPC1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:MPC1_HUMAN pepstats swissprot:MPC1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:MPC1_HUMAN pepwheel swissprot:MPC1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:MPC1_HUMAN pepwindow swissprot:MPC1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:MPC1_HUMAN sigcleave swissprot:MPC1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:MPC1_HUMAN ## Database ID URL or Descriptions # AltName SC5A6_HUMAN Solute carrier family 5 member 6 # BioGrid 114403 4 # ChiTaRS SLC5A6 human # DrugBank DB00121 Biotin # DrugBank DB00166 Lipoic Acid # DrugBank DB08872 gabapentin enacarbil # Ensembl ENST00000310574 ENSP00000310208; ENSG00000138074 # Ensembl ENST00000408041 ENSP00000384853; ENSG00000138074 # ExpressionAtlas Q9Y289 baseline and differential # FUNCTION SC5A6_HUMAN Transports pantothenate, biotin and lipoate in the presence of sodium. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0012506 vesicle membrane; IEA:Ensembl. # GO_component GO:0016020 membrane; TAS:ProtInc. # GO_component GO:0031526 brush border membrane; IEA:Ensembl. # GO_function GO:0008523 sodium-dependent multivitamin transmembrane transporter activity; TAS:ProtInc. # GO_process GO:0006768 biotin metabolic process; TAS:Reactome. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0015878 biotin transport; IBA:GO_Central. # GO_process GO:0015887 pantothenate transmembrane transport; IBA:GO_Central. # GO_process GO:0015939 pantothenate metabolic process; TAS:Reactome. # GO_process GO:0055085 transmembrane transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006790 sulfur compound metabolic process # GOslim_process GO:0006810 transport # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0044281 small molecule metabolic process # GOslim_process GO:0051186 cofactor metabolic process # GOslim_process GO:0055085 transmembrane transport # Genevisible Q9Y289 HS # HGNC HGNC:11041 SLC5A6 # IntAct Q9Y289 2 # InterPro IPR001734 Na/solute_symporter # InterPro IPR018212 Na/solute_symporter_CS # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02001 Solute carrier family # KEGG_Pathway ko04977 Vitamin digestion and absorption # MIM 604024 gene # Organism SC5A6_HUMAN Homo sapiens (Human) # PANTHER PTHR11819 PTHR11819; 2 # PROSITE PS00456 NA_SOLUT_SYMP_1 # PROSITE PS50283 NA_SOLUT_SYMP_3 # Pfam PF00474 SSF # Proteomes UP000005640 Chromosome 2 # Reactome R-HSA-196780 Biotin transport and metabolism # Reactome R-HSA-199220 Vitamin B5 (pantothenate) metabolism # Reactome R-HSA-425397 Transport of vitamins, nucleosides, and related molecules # RecName SC5A6_HUMAN Sodium-dependent multivitamin transporter # RefSeq NP_066918 NM_021095.2 # RefSeq XP_006712191 XM_006712128.1 # RefSeq XP_006712192 XM_006712129.1 # RefSeq XP_006712193 XM_006712130.1 # SIMILARITY Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family. {ECO 0000305}. # SUBCELLULAR LOCATION SC5A6_HUMAN Membrane; Multi-pass membrane protein. # TCDB 2.A.21.5:the solute sodium symporter (sss) family # TIGRFAMs TIGR00813 sss # UCSC uc002rjd human # eggNOG COG0591 LUCA # eggNOG KOG2349 Eukaryota BLAST swissprot:SC5A6_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SC5A6_HUMAN BioCyc ZFISH:ENSG00000138074-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000138074-MONOMER COXPRESdb 8884 http://coxpresdb.jp/data/gene/8884.shtml CleanEx HS_SLC5A6 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC5A6 DOI 10.1006/abbi.1999.1213 http://dx.doi.org/10.1006/abbi.1999.1213 DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.274.21.14875 http://dx.doi.org/10.1074/jbc.274.21.14875 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DrugBank DB00121 http://www.drugbank.ca/drugs/DB00121 DrugBank DB00166 http://www.drugbank.ca/drugs/DB00166 DrugBank DB08872 http://www.drugbank.ca/drugs/DB08872 EMBL AC013403 http://www.ebi.ac.uk/ena/data/view/AC013403 EMBL AF069307 http://www.ebi.ac.uk/ena/data/view/AF069307 EMBL AF081571 http://www.ebi.ac.uk/ena/data/view/AF081571 EMBL AF116241 http://www.ebi.ac.uk/ena/data/view/AF116241 EMBL AK314545 http://www.ebi.ac.uk/ena/data/view/AK314545 EMBL BC012806 http://www.ebi.ac.uk/ena/data/view/BC012806 EMBL BC015631 http://www.ebi.ac.uk/ena/data/view/BC015631 EMBL CH471053 http://www.ebi.ac.uk/ena/data/view/CH471053 EMBL CH471053 http://www.ebi.ac.uk/ena/data/view/CH471053 EMBL CH471053 http://www.ebi.ac.uk/ena/data/view/CH471053 Ensembl ENST00000310574 http://www.ensembl.org/id/ENST00000310574 Ensembl ENST00000408041 http://www.ensembl.org/id/ENST00000408041 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0012506 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0012506 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0031526 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031526 GO_function GO:0008523 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008523 GO_process GO:0006768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006768 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0015878 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015878 GO_process GO:0015887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015887 GO_process GO:0015939 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015939 GO_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006790 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006790 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GOslim_process GO:0051186 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051186 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC5A6 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC5A6 GeneID 8884 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=8884 GeneTree ENSGT00760000118955 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118955 HGNC HGNC:11041 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11041 HOGENOM HOG000261662 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000261662&db=HOGENOM6 HOVERGEN HBG057280 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG057280&db=HOVERGEN HPA HPA036958 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA036958 InParanoid Q9Y289 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9Y289 IntAct Q9Y289 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9Y289* InterPro IPR001734 http://www.ebi.ac.uk/interpro/entry/IPR001734 InterPro IPR018212 http://www.ebi.ac.uk/interpro/entry/IPR018212 Jabion 8884 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=8884 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:8884 http://www.genome.jp/dbget-bin/www_bget?hsa:8884 KEGG_Orthology KO:K14386 http://www.genome.jp/dbget-bin/www_bget?KO:K14386 KEGG_Pathway ko04977 http://www.genome.jp/kegg-bin/show_pathway?ko04977 MIM 604024 http://www.ncbi.nlm.nih.gov/omim/604024 MINT MINT-5005745 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-5005745 OMA CILQETS http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=CILQETS OrthoDB EOG091G07OC http://cegg.unige.ch/orthodb/results?searchtext=EOG091G07OC PANTHER PTHR11819 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11819 PROSITE PS00456 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00456 PROSITE PS50283 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50283 PSORT swissprot:SC5A6_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SC5A6_HUMAN PSORT-B swissprot:SC5A6_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SC5A6_HUMAN PSORT2 swissprot:SC5A6_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SC5A6_HUMAN Pfam PF00474 http://pfam.xfam.org/family/PF00474 PharmGKB PA379 http://www.pharmgkb.org/do/serve?objId=PA379&objCls=Gene Phobius swissprot:SC5A6_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SC5A6_HUMAN PhylomeDB Q9Y289 http://phylomedb.org/?seqid=Q9Y289 ProteinModelPortal Q9Y289 http://www.proteinmodelportal.org/query/uniprot/Q9Y289 PubMed 10329687 http://www.ncbi.nlm.nih.gov/pubmed/10329687 PubMed 10334869 http://www.ncbi.nlm.nih.gov/pubmed/10334869 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 Reactome R-HSA-196780 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-196780 Reactome R-HSA-199220 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-199220 Reactome R-HSA-425397 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-425397 RefSeq NP_066918 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_066918 RefSeq XP_006712191 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006712191 RefSeq XP_006712192 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006712192 RefSeq XP_006712193 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006712193 STRING 9606.ENSP00000310208 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000310208&targetmode=cogs TCDB 2.A.21.5 http://www.tcdb.org/search/result.php?tc=2.A.21.5 TIGRFAMs TIGR00813 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00813 UCSC uc002rjd http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002rjd&org=rat UniGene Hs.435735 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.435735 UniProtKB SC5A6_HUMAN http://www.uniprot.org/uniprot/SC5A6_HUMAN UniProtKB-AC Q9Y289 http://www.uniprot.org/uniprot/Q9Y289 charge swissprot:SC5A6_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SC5A6_HUMAN eggNOG COG0591 http://eggnogapi.embl.de/nog_data/html/tree/COG0591 eggNOG KOG2349 http://eggnogapi.embl.de/nog_data/html/tree/KOG2349 epestfind swissprot:SC5A6_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SC5A6_HUMAN garnier swissprot:SC5A6_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SC5A6_HUMAN helixturnhelix swissprot:SC5A6_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SC5A6_HUMAN hmoment swissprot:SC5A6_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SC5A6_HUMAN iep swissprot:SC5A6_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SC5A6_HUMAN inforesidue swissprot:SC5A6_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SC5A6_HUMAN neXtProt NX_Q9Y289 http://www.nextprot.org/db/entry/NX_Q9Y289 octanol swissprot:SC5A6_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SC5A6_HUMAN pepcoil swissprot:SC5A6_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SC5A6_HUMAN pepdigest swissprot:SC5A6_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SC5A6_HUMAN pepinfo swissprot:SC5A6_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SC5A6_HUMAN pepnet swissprot:SC5A6_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SC5A6_HUMAN pepstats swissprot:SC5A6_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SC5A6_HUMAN pepwheel swissprot:SC5A6_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SC5A6_HUMAN pepwindow swissprot:SC5A6_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SC5A6_HUMAN sigcleave swissprot:SC5A6_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SC5A6_HUMAN ## Database ID URL or Descriptions # AltName KCNK3_HUMAN Acid-sensitive potassium channel protein TASK-1 # AltName KCNK3_HUMAN TWIK-related acid-sensitive K(+) channel 1 # AltName KCNK3_HUMAN Two pore potassium channel KT3.1 # BioGrid 109978 3 # DISEASE KCNK3_HUMAN Pulmonary hypertension, primary, 4 (PPH4) [MIM 615344] A rare disorder characterized by plexiform lesions of proliferating endothelial cells in pulmonary arterioles. The lesions lead to elevated pulmonary arterial pression, right ventricular failure, and death. The disease can occur from infancy throughout life and it has a mean age at onset of 36 years. Penetrance is reduced. Although familial pulmonary hypertension is rare, cases secondary to known etiologies are more common and include those associated with the appetite-suppressant drugs. {ECO 0000269|PubMed 23883380}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DrugBank DB00561 Doxapram # DrugBank DB01159 Halothane # Ensembl ENST00000302909 ENSP00000306275; ENSG00000171303 # ExpressionAtlas O14649 baseline and differential # FUNCTION KCNK3_HUMAN pH-dependent, voltage-insensitive, background potassium channel protein. Rectification direction results from potassium ion concentration on either side of the membrane. Acts as an outward rectifier when external potassium concentration is low. When external potassium concentration is high, current is inward. {ECO 0000269|PubMed 23169818, ECO 0000269|PubMed 9312005}. # GO_component GO:0005886 plasma membrane; IMP:UniProtKB. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_function GO:0005216 ion channel activity; IMP:UniProtKB. # GO_function GO:0005252 open rectifier potassium channel activity; IEA:Ensembl. # GO_function GO:0005267 potassium channel activity; TAS:Reactome. # GO_function GO:0022841 potassium ion leak channel activity; IDA:UniProtKB. # GO_function GO:0044548 S100 protein binding; IPI:UniProtKB. # GO_process GO:0006813 potassium ion transport; TAS:ProtInc. # GO_process GO:0007268 chemical synaptic transmission; TAS:ProtInc. # GO_process GO:0007420 brain development; IEA:Ensembl. # GO_process GO:0030322 stabilization of membrane potential; IBA:GO_Central. # GO_process GO:0034220 ion transmembrane transport; IMP:UniProtKB. # GO_process GO:0042493 response to drug; IEA:Ensembl. # GO_process GO:0051481 negative regulation of cytosolic calcium ion concentration; IEA:Ensembl. # GO_process GO:0061337 cardiac conduction; TAS:Reactome. # GO_process GO:0071294 cellular response to zinc ion; IEA:Ensembl. # GO_process GO:0071456 cellular response to hypoxia; IEA:Ensembl. # GO_process GO:0090102 cochlea development; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0055085 transmembrane transport # Genevisible O14649 HS # HGNC HGNC:6278 KCNK3 # InterPro IPR003092 2pore_dom_K_chnl_TASK # InterPro IPR003280 2pore_dom_K_chnl # InterPro IPR005406 KCNK3 # InterPro IPR013099 K_chnl_dom # KEGG_Brite ko04040 Ion channels # KEGG_Disease H01621 [Cardiovascular disease] Pulmonary arterial hypertension (PAH) # MIM 603220 gene # MIM 615344 phenotype # MISCELLANEOUS KCNK3_HUMAN Inhibited by external acidification. Activated by halothane and isoflurane. # Organism KCNK3_HUMAN Homo sapiens (Human) # Orphanet 275766 Idiopathic pulmonary arterial hypertension # Orphanet 275777 Heritable pulmonary arterial hypertension # PIRSF PIRSF038061 K_channel_subfamily_K_type # PRINTS PR01095 TASKCHANNEL # PRINTS PR01333 2POREKCHANEL # PRINTS PR01584 TASK1CHANNEL # Pfam PF07885 Ion_trans_2; 2 # Proteomes UP000005640 Chromosome 2 # Reactome R-HSA-1299316 TWIK-releated acid-sensitive K+ channel (TASK) # Reactome R-HSA-5576886 Phase 4 - resting membrane potential # RecName KCNK3_HUMAN Potassium channel subfamily K member 3 # RefSeq NP_002237 NM_002246.2 # SIMILARITY Belongs to the two pore domain potassium channel (TC 1.A.1.8) family. {ECO 0000305}. # SUBCELLULAR LOCATION KCNK3_HUMAN Cell membrane {ECO 0000269|PubMed 23169818}; Multi-pass membrane protein {ECO 0000305}. # SUBUNIT Homodimer (Probable). Heterodimer with KCNK1. {ECO:0000269|PubMed 23169818, ECO:0000305}. # TCDB 1.A.1.9 the voltage-gated ion channel (vic) superfamily # TISSUE SPECIFICITY KCNK3_HUMAN Widespread expression in adult. Strongest expression in pancreas and placenta. Lower expression in brain, lung, prostate, heart, kidney, uterus, small intestine and colon. # UCSC uc002rhn human # eggNOG ENOG410XRZJ LUCA # eggNOG KOG4404 Eukaryota BLAST swissprot:KCNK3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCNK3_HUMAN BioCyc ZFISH:ENSG00000171303-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000171303-MONOMER COXPRESdb 3777 http://coxpresdb.jp/data/gene/3777.shtml CleanEx HS_KCNK3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNK3 DOI 10.1007/s004240100620 http://dx.doi.org/10.1007/s004240100620 DOI 10.1038/8084 http://dx.doi.org/10.1038/8084 DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1056/NEJMoa1211097 http://dx.doi.org/10.1056/NEJMoa1211097 DOI 10.1074/jbc.M001948200 http://dx.doi.org/10.1074/jbc.M001948200 DOI 10.1093/emboj/16.17.5464 http://dx.doi.org/10.1093/emboj/16.17.5464 DOI 10.1126/scisignal.2003431 http://dx.doi.org/10.1126/scisignal.2003431 DrugBank DB00561 http://www.drugbank.ca/drugs/DB00561 DrugBank DB01159 http://www.drugbank.ca/drugs/DB01159 EMBL AC015977 http://www.ebi.ac.uk/ena/data/view/AC015977 EMBL AF006823 http://www.ebi.ac.uk/ena/data/view/AF006823 EMBL AF065163 http://www.ebi.ac.uk/ena/data/view/AF065163 EMBL CH471053 http://www.ebi.ac.uk/ena/data/view/CH471053 EMBL CH471053 http://www.ebi.ac.uk/ena/data/view/CH471053 Ensembl ENST00000302909 http://www.ensembl.org/id/ENST00000302909 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0005216 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005216 GO_function GO:0005252 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005252 GO_function GO:0005267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005267 GO_function GO:0022841 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022841 GO_function GO:0044548 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044548 GO_process GO:0006813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006813 GO_process GO:0007268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007268 GO_process GO:0007420 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007420 GO_process GO:0030322 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030322 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0042493 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042493 GO_process GO:0051481 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051481 GO_process GO:0061337 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061337 GO_process GO:0071294 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071294 GO_process GO:0071456 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071456 GO_process GO:0090102 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090102 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards KCNK3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNK3 GeneID 3777 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=3777 GeneTree ENSGT00760000118858 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118858 HGNC HGNC:6278 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6278 HOGENOM HOG000231463 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231463&db=HOGENOM6 HOVERGEN HBG052239 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052239&db=HOVERGEN HPA HPA026658 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA026658 InParanoid O14649 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O14649 InterPro IPR003092 http://www.ebi.ac.uk/interpro/entry/IPR003092 InterPro IPR003280 http://www.ebi.ac.uk/interpro/entry/IPR003280 InterPro IPR005406 http://www.ebi.ac.uk/interpro/entry/IPR005406 InterPro IPR013099 http://www.ebi.ac.uk/interpro/entry/IPR013099 Jabion 3777 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=3777 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H01621 http://www.genome.jp/dbget-bin/www_bget?H01621 KEGG_Gene hsa:3777 http://www.genome.jp/dbget-bin/www_bget?hsa:3777 KEGG_Orthology KO:K04914 http://www.genome.jp/dbget-bin/www_bget?KO:K04914 MIM 603220 http://www.ncbi.nlm.nih.gov/omim/603220 MIM 615344 http://www.ncbi.nlm.nih.gov/omim/615344 MINT MINT-1645466 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1645466 OMA FRSLMKR http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=FRSLMKR Orphanet 275766 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=275766 Orphanet 275777 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=275777 OrthoDB EOG091G08DH http://cegg.unige.ch/orthodb/results?searchtext=EOG091G08DH PRINTS PR01095 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01095 PRINTS PR01333 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01333 PRINTS PR01584 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01584 PSORT swissprot:KCNK3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCNK3_HUMAN PSORT-B swissprot:KCNK3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCNK3_HUMAN PSORT2 swissprot:KCNK3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCNK3_HUMAN Pfam PF07885 http://pfam.xfam.org/family/PF07885 PharmGKB PA30060 http://www.pharmgkb.org/do/serve?objId=PA30060&objCls=Gene Phobius swissprot:KCNK3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCNK3_HUMAN PhylomeDB O14649 http://phylomedb.org/?seqid=O14649 ProteinModelPortal O14649 http://www.proteinmodelportal.org/query/uniprot/O14649 PubMed 10321245 http://www.ncbi.nlm.nih.gov/pubmed/10321245 PubMed 10748056 http://www.ncbi.nlm.nih.gov/pubmed/10748056 PubMed 11680614 http://www.ncbi.nlm.nih.gov/pubmed/11680614 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 PubMed 23169818 http://www.ncbi.nlm.nih.gov/pubmed/23169818 PubMed 23883380 http://www.ncbi.nlm.nih.gov/pubmed/23883380 PubMed 9312005 http://www.ncbi.nlm.nih.gov/pubmed/9312005 Reactome R-HSA-1299316 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1299316 Reactome R-HSA-5576886 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576886 RefSeq NP_002237 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_002237 STRING 9606.ENSP00000306275 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000306275&targetmode=cogs TCDB 1.A.1.9 http://www.tcdb.org/search/result.php?tc=1.A.1.9 UCSC uc002rhn http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002rhn&org=rat UniGene Hs.24040 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.24040 UniGene Hs.645288 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.645288 UniProtKB KCNK3_HUMAN http://www.uniprot.org/uniprot/KCNK3_HUMAN UniProtKB-AC O14649 http://www.uniprot.org/uniprot/O14649 charge swissprot:KCNK3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCNK3_HUMAN eggNOG ENOG410XRZJ http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XRZJ eggNOG KOG4404 http://eggnogapi.embl.de/nog_data/html/tree/KOG4404 epestfind swissprot:KCNK3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCNK3_HUMAN garnier swissprot:KCNK3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCNK3_HUMAN helixturnhelix swissprot:KCNK3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCNK3_HUMAN hmoment swissprot:KCNK3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCNK3_HUMAN iep swissprot:KCNK3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCNK3_HUMAN inforesidue swissprot:KCNK3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCNK3_HUMAN neXtProt NX_O14649 http://www.nextprot.org/db/entry/NX_O14649 octanol swissprot:KCNK3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCNK3_HUMAN pepcoil swissprot:KCNK3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCNK3_HUMAN pepdigest swissprot:KCNK3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCNK3_HUMAN pepinfo swissprot:KCNK3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCNK3_HUMAN pepnet swissprot:KCNK3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCNK3_HUMAN pepstats swissprot:KCNK3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCNK3_HUMAN pepwheel swissprot:KCNK3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCNK3_HUMAN pepwindow swissprot:KCNK3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCNK3_HUMAN sigcleave swissprot:KCNK3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCNK3_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS TNPO1_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q92973-1; Sequence=Displayed; Name=2; IsoId=Q92973-2; Sequence=VSP_038028; Note=Contains a N-acetylmethionine at position 1. {ECO 0000244|PubMed 19413330, ECO 0000244|PubMed 22223895}; Name=3; IsoId=Q92973-3; Sequence=VSP_038029; # AltName TNPO1_HUMAN Importin beta-2 # AltName TNPO1_HUMAN Karyopherin beta-2 # AltName TNPO1_HUMAN M9 region interaction protein # BioGrid 110040 72 # CCDS CCDS4016 -. [Q92973-2] # CCDS CCDS43329 -. [Q92973-1] # ChiTaRS TNPO1 human # Ensembl ENST00000337273 ENSP00000336712; ENSG00000083312. [Q92973-1] # Ensembl ENST00000506351 ENSP00000425118; ENSG00000083312. [Q92973-2] # Ensembl ENST00000523768 ENSP00000428899; ENSG00000083312. [Q92973-3] # ExpressionAtlas Q92973 baseline and differential # FUNCTION TNPO1_HUMAN Functions in nuclear protein import as nuclear transport receptor. Serves as receptor for nuclear localization signals (NLS) in cargo substrates. Is thought to mediate docking of the importin/substrate complex to the nuclear pore complex (NPC) through binding to nucleoporin and the complex is subsequently translocated through the pore by an energy requiring, Ran- dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to the importin, the importin/substrate complex dissociates and importin is re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus (By similarity). Involved in nuclear import of M9- containing proteins. In vitro, binds directly to the M9 region of the heterogeneous nuclear ribonucleoproteins (hnRNP), A1 and A2 and mediates their nuclear import. Appears also to be involved in hnRNP A1/A2 nuclear export. Mediates the nuclear import of ribosomal proteins RPL23A, RPS7 and RPL5. Binds to a beta-like import receptor binding (BIB) domain of RPL23A. In vitro, mediates nuclear import of H2A, H2B, H3 and H4 histones, and SRP19. In case of HIV-1 infection, binds and mediates the nuclear import of HIV-1 Rev. Mediates nuclear import of ADAR/ADAR1 (isoform 5) in a RanGTP-dependent manner. {ECO 0000250, ECO 0000269|PubMed 11682607, ECO 0000269|PubMed 19124606, ECO 0000269|PubMed 8986607, ECO 0000269|PubMed 9687515}. # GO_component GO:0005634 nucleus; TAS:ProtInc. # GO_component GO:0005737 cytoplasm; TAS:ProtInc. # GO_component GO:0005829 cytosol; TAS:Reactome. # GO_component GO:0031965 nuclear membrane; IBA:GO_Central. # GO_component GO:0034399 nuclear periphery; IBA:GO_Central. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0008139 nuclear localization sequence binding; TAS:ProtInc. # GO_function GO:0008565 protein transporter activity; IBA:GO_Central. # GO_function GO:0044822 poly(A) RNA binding; IDA:UniProtKB. # GO_process GO:0000059 protein import into nucleus, docking; IBA:GO_Central. # GO_process GO:0000060 protein import into nucleus, translocation; TAS:ProtInc. # GO_process GO:0006607 NLS-bearing protein import into nucleus; IBA:GO_Central. # GO_process GO:0006610 ribosomal protein import into nucleus; IBA:GO_Central. # GO_process GO:0016032 viral process; IEA:UniProtKB-KW. # GO_process GO:0043488 regulation of mRNA stability; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005829 cytosol # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0003723 RNA binding # GOslim_function GO:0008565 protein transporter activity # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # GOslim_process GO:0006913 nucleocytoplasmic transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0044403 symbiosis, encompassing mutualism through parasitism # Gene3D 1.25.10.10 -; 2. # Genevisible Q92973 HS # HGNC HGNC:6401 TNPO1 # INTERACTION TNPO1_HUMAN P62993 GRB2; NbExp=2; IntAct=EBI-286693, EBI-401755; P62826 RAN; NbExp=2; IntAct=EBI-286693, EBI-286642; # IntAct Q92973 39 # InterPro IPR001494 Importin-beta_N # InterPro IPR011989 ARM-like # InterPro IPR016024 ARM-type_fold # MIM 602901 gene # Organism TNPO1_HUMAN Homo sapiens (Human) # PDB 1QBK X-ray; 3.00 A; B=9-898 # PDB 2H4M X-ray; 3.05 A; A/B=376-898, A/B=9-343 # PDB 2OT8 X-ray; 3.10 A; A/B=9-331, A/B=375-898 # PDB 2QMR X-ray; 3.00 A; A/B/C/D=9-898 # PDB 2Z5J X-ray; 3.40 A; A=9-898 # PDB 2Z5K X-ray; 2.60 A; A=9-898 # PDB 2Z5M X-ray; 3.00 A; A=9-898 # PDB 2Z5N X-ray; 3.20 A; A=9-898 # PDB 2Z5O X-ray; 3.20 A; A=9-898 # PDB 4FDD X-ray; 2.30 A; A=9-331, A=375-898 # PDB 4FQ3 X-ray; 3.00 A; A=9-898 # PDB 4JLQ X-ray; 3.05 A; A=9-331, A=375-898 # PDB 4OO6 X-ray; 2.70 A; A=375-898, A=9-331 # PDB 5J3V X-ray; 3.05 A; A/B=9-331, A/B=375-898 # PROSITE PS50166 IMPORTIN_B_NT # Pfam PF03810 IBN_N # Proteomes UP000005640 Chromosome 5 # Reactome R-HSA-450513 Tristetraprolin (TTP, ZFP36) binds and destabilizes mRNA # Reactome R-HSA-5620924 Intraflagellar transport # RecName TNPO1_HUMAN Transportin-1 # RefSeq NP_002261 NM_002270.3. [Q92973-1] # RefSeq NP_694858 NM_153188.2. [Q92973-2] # RefSeq XP_005248557 XM_005248500.2. [Q92973-2] # SEQUENCE CAUTION Sequence=AAC50723.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH40340.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the importin beta family. Importin beta-2 subfamily. {ECO 0000305}. # SIMILARITY Contains 1 importin N-terminal domain. {ECO:0000255|PROSITE-ProRule PRU00115}. # SIMILARITY Contains 20 HEAT repeats. {ECO:0000269|PubMed 10353245}. # SMART SM00913 IBN_N # SUBCELLULAR LOCATION TNPO1_HUMAN Cytoplasm. Nucleus. # SUBUNIT TNPO1_HUMAN Binds HNRPA1, HNRPA2, HNRNPDL, RPL23A, RPS7, RPL5, RAN and SRP19. Interacts with H2A, H2B, H3 and H4 histones. Binds to HIV-1 Rev. Interacts with isoform 5 of ADAR/ADAR1 (via DRBM 3 domain). Interacts with SNAI1 (via zinc fingers); the interaction mediates SNAI1 nuclear import. Interacts with SNAI2 (via zinc fingers). {ECO 0000269|PubMed 11682607, ECO 0000269|PubMed 16704975, ECO 0000269|PubMed 19124606, ECO 0000269|PubMed 19386897, ECO 0000269|PubMed 9524220, ECO 0000269|PubMed 9687515}. # SUPFAM SSF48371 SSF48371 # TCDB 1.I.1.1 the nuclear pore complex (npc) family # UCSC uc003kci human. [Q92973-1] # eggNOG ENOG410XPK2 LUCA # eggNOG KOG2023 Eukaryota BLAST swissprot:TNPO1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:TNPO1_HUMAN BioCyc ZFISH:ENSG00000083312-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000083312-MONOMER COXPRESdb 3842 http://coxpresdb.jp/data/gene/3842.shtml CleanEx HS_TNPO1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_TNPO1 DIP DIP-29335N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-29335N DOI 10.1006/excr.1996.0369 http://dx.doi.org/10.1006/excr.1996.0369 DOI 10.1016/S0092-8674(00)80173-7 http://dx.doi.org/10.1016/S0092-8674(00)80173-7 DOI 10.1016/S0167-4781(97)00223-6 http://dx.doi.org/10.1016/S0167-4781(97)00223-6 DOI 10.1021/ac9004309 http://dx.doi.org/10.1021/ac9004309 DOI 10.1038/20375 http://dx.doi.org/10.1038/20375 DOI 10.1038/nature02919 http://dx.doi.org/10.1038/nature02919 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.94.10.5055 http://dx.doi.org/10.1073/pnas.94.10.5055 DOI 10.1074/jbc.M602189200 http://dx.doi.org/10.1074/jbc.M602189200 DOI 10.1074/mcp.M111.015131 http://dx.doi.org/10.1074/mcp.M111.015131 DOI 10.1093/emboj/17.15.4491 http://dx.doi.org/10.1093/emboj/17.15.4491 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1128/MCB.01519-08 http://dx.doi.org/10.1128/MCB.01519-08 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DOI 10.1242/jcs.041749 http://dx.doi.org/10.1242/jcs.041749 EMBL AK301021 http://www.ebi.ac.uk/ena/data/view/AK301021 EMBL BC040340 http://www.ebi.ac.uk/ena/data/view/BC040340 EMBL U70322 http://www.ebi.ac.uk/ena/data/view/U70322 EMBL U72069 http://www.ebi.ac.uk/ena/data/view/U72069 EMBL U72395 http://www.ebi.ac.uk/ena/data/view/U72395 Ensembl ENST00000337273 http://www.ensembl.org/id/ENST00000337273 Ensembl ENST00000506351 http://www.ensembl.org/id/ENST00000506351 Ensembl ENST00000523768 http://www.ensembl.org/id/ENST00000523768 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0031965 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031965 GO_component GO:0034399 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034399 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0008139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008139 GO_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GO_function GO:0044822 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044822 GO_process GO:0000059 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000059 GO_process GO:0000060 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000060 GO_process GO:0006607 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006607 GO_process GO:0006610 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006610 GO_process GO:0016032 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016032 GO_process GO:0043488 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043488 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0003723 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003723 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006913 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006913 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0044403 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044403 Gene3D 1.25.10.10 http://www.cathdb.info/version/latest/superfamily/1.25.10.10 GeneCards TNPO1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=TNPO1 GeneID 3842 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=3842 GeneTree ENSGT00550000074720 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074720 HGNC HGNC:6401 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6401 HOGENOM HOG000203940 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000203940&db=HOGENOM6 HOVERGEN HBG058963 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG058963&db=HOVERGEN HPA CAB016325 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB016325 InParanoid Q92973 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q92973 IntAct Q92973 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q92973* InterPro IPR001494 http://www.ebi.ac.uk/interpro/entry/IPR001494 InterPro IPR011989 http://www.ebi.ac.uk/interpro/entry/IPR011989 InterPro IPR016024 http://www.ebi.ac.uk/interpro/entry/IPR016024 Jabion 3842 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=3842 KEGG_Gene hsa:3842 http://www.genome.jp/dbget-bin/www_bget?hsa:3842 MIM 602901 http://www.ncbi.nlm.nih.gov/omim/602901 MINT MINT-94165 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-94165 OMA THTIKSG http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=THTIKSG OrthoDB EOG091G01O2 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G01O2 PDB 1QBK http://www.ebi.ac.uk/pdbe-srv/view/entry/1QBK PDB 2H4M http://www.ebi.ac.uk/pdbe-srv/view/entry/2H4M PDB 2OT8 http://www.ebi.ac.uk/pdbe-srv/view/entry/2OT8 PDB 2QMR http://www.ebi.ac.uk/pdbe-srv/view/entry/2QMR PDB 2Z5J http://www.ebi.ac.uk/pdbe-srv/view/entry/2Z5J PDB 2Z5K http://www.ebi.ac.uk/pdbe-srv/view/entry/2Z5K PDB 2Z5M http://www.ebi.ac.uk/pdbe-srv/view/entry/2Z5M PDB 2Z5N http://www.ebi.ac.uk/pdbe-srv/view/entry/2Z5N PDB 2Z5O http://www.ebi.ac.uk/pdbe-srv/view/entry/2Z5O PDB 4FDD http://www.ebi.ac.uk/pdbe-srv/view/entry/4FDD PDB 4FQ3 http://www.ebi.ac.uk/pdbe-srv/view/entry/4FQ3 PDB 4JLQ http://www.ebi.ac.uk/pdbe-srv/view/entry/4JLQ PDB 4OO6 http://www.ebi.ac.uk/pdbe-srv/view/entry/4OO6 PDB 5J3V http://www.ebi.ac.uk/pdbe-srv/view/entry/5J3V PDBsum 1QBK http://www.ebi.ac.uk/pdbsum/1QBK PDBsum 2H4M http://www.ebi.ac.uk/pdbsum/2H4M PDBsum 2OT8 http://www.ebi.ac.uk/pdbsum/2OT8 PDBsum 2QMR http://www.ebi.ac.uk/pdbsum/2QMR PDBsum 2Z5J http://www.ebi.ac.uk/pdbsum/2Z5J PDBsum 2Z5K http://www.ebi.ac.uk/pdbsum/2Z5K PDBsum 2Z5M http://www.ebi.ac.uk/pdbsum/2Z5M PDBsum 2Z5N http://www.ebi.ac.uk/pdbsum/2Z5N PDBsum 2Z5O http://www.ebi.ac.uk/pdbsum/2Z5O PDBsum 4FDD http://www.ebi.ac.uk/pdbsum/4FDD PDBsum 4FQ3 http://www.ebi.ac.uk/pdbsum/4FQ3 PDBsum 4JLQ http://www.ebi.ac.uk/pdbsum/4JLQ PDBsum 4OO6 http://www.ebi.ac.uk/pdbsum/4OO6 PDBsum 5J3V http://www.ebi.ac.uk/pdbsum/5J3V PROSITE PS50166 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50166 PSORT swissprot:TNPO1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:TNPO1_HUMAN PSORT-B swissprot:TNPO1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:TNPO1_HUMAN PSORT2 swissprot:TNPO1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:TNPO1_HUMAN Pfam PF03810 http://pfam.xfam.org/family/PF03810 PharmGKB PA30192 http://www.pharmgkb.org/do/serve?objId=PA30192&objCls=Gene Phobius swissprot:TNPO1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:TNPO1_HUMAN PhylomeDB Q92973 http://phylomedb.org/?seqid=Q92973 ProteinModelPortal Q92973 http://www.proteinmodelportal.org/query/uniprot/Q92973 PubMed 10353245 http://www.ncbi.nlm.nih.gov/pubmed/10353245 PubMed 11682607 http://www.ncbi.nlm.nih.gov/pubmed/11682607 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15372022 http://www.ncbi.nlm.nih.gov/pubmed/15372022 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16704975 http://www.ncbi.nlm.nih.gov/pubmed/16704975 PubMed 19124606 http://www.ncbi.nlm.nih.gov/pubmed/19124606 PubMed 19386897 http://www.ncbi.nlm.nih.gov/pubmed/19386897 PubMed 19413330 http://www.ncbi.nlm.nih.gov/pubmed/19413330 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 22223895 http://www.ncbi.nlm.nih.gov/pubmed/22223895 PubMed 8808633 http://www.ncbi.nlm.nih.gov/pubmed/8808633 PubMed 8986607 http://www.ncbi.nlm.nih.gov/pubmed/8986607 PubMed 9144189 http://www.ncbi.nlm.nih.gov/pubmed/9144189 PubMed 9524220 http://www.ncbi.nlm.nih.gov/pubmed/9524220 PubMed 9687515 http://www.ncbi.nlm.nih.gov/pubmed/9687515 Reactome R-HSA-450513 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-450513 Reactome R-HSA-5620924 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5620924 RefSeq NP_002261 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_002261 RefSeq NP_694858 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_694858 RefSeq XP_005248557 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005248557 SMART SM00913 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00913 SMR Q92973 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q92973 STRING 9606.ENSP00000336712 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000336712&targetmode=cogs SUPFAM SSF48371 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48371 TCDB 1.I.1.1 http://www.tcdb.org/search/result.php?tc=1.I.1.1 UCSC uc003kci http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003kci&org=rat UniGene Hs.482497 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.482497 UniProtKB TNPO1_HUMAN http://www.uniprot.org/uniprot/TNPO1_HUMAN UniProtKB-AC Q92973 http://www.uniprot.org/uniprot/Q92973 charge swissprot:TNPO1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:TNPO1_HUMAN eggNOG ENOG410XPK2 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XPK2 eggNOG KOG2023 http://eggnogapi.embl.de/nog_data/html/tree/KOG2023 epestfind swissprot:TNPO1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:TNPO1_HUMAN garnier swissprot:TNPO1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:TNPO1_HUMAN helixturnhelix swissprot:TNPO1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:TNPO1_HUMAN hmoment swissprot:TNPO1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:TNPO1_HUMAN iep swissprot:TNPO1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:TNPO1_HUMAN inforesidue swissprot:TNPO1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:TNPO1_HUMAN neXtProt NX_Q92973 http://www.nextprot.org/db/entry/NX_Q92973 octanol swissprot:TNPO1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:TNPO1_HUMAN pepcoil swissprot:TNPO1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:TNPO1_HUMAN pepdigest swissprot:TNPO1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:TNPO1_HUMAN pepinfo swissprot:TNPO1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:TNPO1_HUMAN pepnet swissprot:TNPO1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:TNPO1_HUMAN pepstats swissprot:TNPO1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:TNPO1_HUMAN pepwheel swissprot:TNPO1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:TNPO1_HUMAN pepwindow swissprot:TNPO1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:TNPO1_HUMAN sigcleave swissprot:TNPO1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:TNPO1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S26A7_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1 {ECO 0000269|PubMed 11829495}; Synonyms=1A {ECO 0000269|PubMed 11829495}, 1B {ECO 0000269|PubMed 11829495}; IsoId=Q8TE54-1; Sequence=Displayed; Name=2 {ECO 0000269|PubMed 11829495, ECO 0000269|PubMed 15489334}; Synonyms=B {ECO 0000269|PubMed 15489334}; IsoId=Q8TE54-2; Sequence=VSP_052689; # AltName S26A7_HUMAN Solute carrier family 26 member 7 # CCDS CCDS6254 -. [Q8TE54-1] # CCDS CCDS6255 -. [Q8TE54-2] # ChiTaRS SLC26A7 human # Ensembl ENST00000276609 ENSP00000276609; ENSG00000147606. [Q8TE54-1] # Ensembl ENST00000309536 ENSP00000309504; ENSG00000147606. [Q8TE54-2] # Ensembl ENST00000523719 ENSP00000428849; ENSG00000147606. [Q8TE54-1] # Ensembl ENST00000617233 ENSP00000482549; ENSG00000147606. [Q8TE54-1] # ExpressionAtlas Q8TE54 baseline and differential # FUNCTION S26A7_HUMAN Acts as a sodium-independent DIDS-sensitive anion exchanger mediating bicarbonate, chloride, sulfate and oxalate transport. May play a role in the maintenance of the electrolyte and acid-base homeostasis in the kidney, by acting as a distal excretory segment-specific anion exchanger. Plays a major role in gastric acid secretion. {ECO 0000250|UniProtKB Q8R2Z3, ECO 0000269|PubMed 11834742, ECO 0000269|PubMed 12736153}. # GO_component GO:0005737 cytoplasm; IDA:UniProtKB. # GO_component GO:0005768 endosome; IDA:UniProtKB. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0016323 basolateral plasma membrane; IMP:UniProtKB. # GO_component GO:0055038 recycling endosome membrane; IEA:UniProtKB-SubCell. # GO_function GO:0005254 chloride channel activity; IDA:UniProtKB. # GO_function GO:0008271 secondary active sulfate transmembrane transporter activity; IEA:InterPro. # GO_function GO:0015106 bicarbonate transmembrane transporter activity; ISS:UniProtKB. # GO_function GO:0015116 sulfate transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0019531 oxalate transmembrane transporter activity; IDA:UniProtKB. # GO_function S26A7_HUMAN GO 0015301 anion anion antiporter activity; IBA GO_Central. # GO_process GO:0001696 gastric acid secretion; IEA:Ensembl. # GO_process GO:0006811 ion transport; TAS:Reactome. # GO_process GO:0006820 anion transport; IDA:UniProtKB. # GO_process GO:0006821 chloride transport; IDA:UniProtKB. # GO_process GO:0008272 sulfate transport; IDA:UniProtKB. # GO_process GO:0015701 bicarbonate transport; ISS:UniProtKB. # GO_process GO:0019532 oxalate transport; IDA:UniProtKB. # GO_process GO:0042391 regulation of membrane potential; IBA:GO_Central. # GO_process GO:0051453 regulation of intracellular pH; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005768 endosome # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # Gene3D 3.30.750.24 -; 2. # Genevisible Q8TE54 HS # HGNC HGNC:14467 SLC26A7 # InterPro IPR001902 SLC26A/SulP_fam # InterPro IPR002645 STAS_dom # InterPro IPR011547 SLC26A/SulP_dom # InterPro IPR030329 SLC26A7 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02001 Solute carrier family # KEGG_Pathway ko04971 Gastric acid secretion # MIM 608479 gene # MISCELLANEOUS S26A7_HUMAN Is active at both alkaline and acidic pH. Activity is inhibited by 4,4'-Di-isothiocyanatostilbene-2,2'-disulfonic acid (DIDS - an inhibitor of several anion channels and transporters). # Organism S26A7_HUMAN Homo sapiens (Human) # PANTHER PTHR11814 PTHR11814; 2 # PANTHER PTHR11814:SF75 PTHR11814:SF75; 2 # PROSITE PS50801 STAS # Pfam PF00916 Sulfate_transp # Pfam PF01740 STAS # Proteomes UP000005640 Chromosome 8 # Reactome R-HSA-427601 Multifunctional anion exchangers # RecName S26A7_HUMAN Anion exchange transporter # RefSeq NP_001269285 NM_001282356.1. [Q8TE54-1] # RefSeq NP_001269286 NM_001282357.1 # RefSeq NP_439897 NM_052832.3. [Q8TE54-1] # RefSeq NP_599028 NM_134266.1. [Q8TE54-2] # SIMILARITY Belongs to the SLC26A/SulP transporter (TC 2.A.53) family. {ECO 0000255}. # SIMILARITY Contains 1 STAS domain. {ECO:0000255|PROSITE- ProRule PRU00198}. # SUBCELLULAR LOCATION S26A7_HUMAN Recycling endosome membrane {ECO 0000269|PubMed 16524946}; Multi-pass membrane protein {ECO 0000269|PubMed 16524946}. Note=Expressed in the cytoplasm in recycling endosomes of medullary collecting duct cells and in acid-secreting gastric parietal cells. Targeted to the basolateral membrane in hypertonicity and potassium depletion. {ECO 0000269|PubMed 16524946}. # SUPFAM SSF52091 SSF52091; 2 # TCDB 2.A.53.2 the sulfate permease (sulp) family # TISSUE SPECIFICITY S26A7_HUMAN Expressed in tonsillar high endothelial venule endothelial cells (HEVEC), placenta and in testis, expressed in a subgroup of basal cells in the epididymal ducts. {ECO 0000269|PubMed 11829495, ECO 0000269|PubMed 11834742, ECO 0000269|PubMed 15956810, ECO 0000269|PubMed 17504921}. # UCSC uc003yex human. [Q8TE54-1] # eggNOG COG0659 LUCA # eggNOG KOG0236 Eukaryota BLAST swissprot:S26A7_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S26A7_HUMAN COXPRESdb 115111 http://coxpresdb.jp/data/gene/115111.shtml CleanEx HS_SLC26A7 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC26A7 DOI 10.1006/geno.2002.6689 http://dx.doi.org/10.1006/geno.2002.6689 DOI 10.1074/jbc.M111802200 http://dx.doi.org/10.1074/jbc.M111802200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1152/ajpgi.00454.2002 http://dx.doi.org/10.1152/ajpgi.00454.2002 DOI 10.1159/000086345 http://dx.doi.org/10.1159/000086345 DOI 10.1530/rep.1.00964 http://dx.doi.org/10.1530/rep.1.00964 DOI 10.1681/ASN.2005111174 http://dx.doi.org/10.1681/ASN.2005111174 EMBL AF331521 http://www.ebi.ac.uk/ena/data/view/AF331521 EMBL AJ413228 http://www.ebi.ac.uk/ena/data/view/AJ413228 EMBL AJ413229 http://www.ebi.ac.uk/ena/data/view/AJ413229 EMBL AJ413230 http://www.ebi.ac.uk/ena/data/view/AJ413230 EMBL BC094730 http://www.ebi.ac.uk/ena/data/view/BC094730 EMBL BC113866 http://www.ebi.ac.uk/ena/data/view/BC113866 EMBL BC114474 http://www.ebi.ac.uk/ena/data/view/BC114474 EMBL CH471060 http://www.ebi.ac.uk/ena/data/view/CH471060 EMBL CH471060 http://www.ebi.ac.uk/ena/data/view/CH471060 Ensembl ENST00000276609 http://www.ensembl.org/id/ENST00000276609 Ensembl ENST00000309536 http://www.ensembl.org/id/ENST00000309536 Ensembl ENST00000523719 http://www.ensembl.org/id/ENST00000523719 Ensembl ENST00000617233 http://www.ensembl.org/id/ENST00000617233 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016323 GO_component GO:0055038 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055038 GO_function GO:0005254 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005254 GO_function GO:0008271 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008271 GO_function GO:0015106 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015106 GO_function GO:0015116 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015116 GO_function GO:0015301 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015301 GO_function GO:0019531 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019531 GO_process GO:0001696 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001696 GO_process GO:0006811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006811 GO_process GO:0006820 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006820 GO_process GO:0006821 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006821 GO_process GO:0008272 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008272 GO_process GO:0015701 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015701 GO_process GO:0019532 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019532 GO_process GO:0042391 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042391 GO_process GO:0051453 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051453 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 Gene3D 3.30.750.24 http://www.cathdb.info/version/latest/superfamily/3.30.750.24 GeneCards SLC26A7 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC26A7 GeneID 115111 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=115111 GeneTree ENSGT00760000119026 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119026 HGNC HGNC:14467 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:14467 HOGENOM HOG000049231 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000049231&db=HOGENOM6 HOVERGEN HBG108442 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG108442&db=HOVERGEN InParanoid Q8TE54 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8TE54 InterPro IPR001902 http://www.ebi.ac.uk/interpro/entry/IPR001902 InterPro IPR002645 http://www.ebi.ac.uk/interpro/entry/IPR002645 InterPro IPR011547 http://www.ebi.ac.uk/interpro/entry/IPR011547 InterPro IPR030329 http://www.ebi.ac.uk/interpro/entry/IPR030329 Jabion 115111 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=115111 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:115111 http://www.genome.jp/dbget-bin/www_bget?hsa:115111 KEGG_Orthology KO:K13962 http://www.genome.jp/dbget-bin/www_bget?KO:K13962 KEGG_Pathway ko04971 http://www.genome.jp/kegg-bin/show_pathway?ko04971 MIM 608479 http://www.ncbi.nlm.nih.gov/omim/608479 OMA DYSGVSM http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=DYSGVSM OrthoDB EOG091G07RT http://cegg.unige.ch/orthodb/results?searchtext=EOG091G07RT PANTHER PTHR11814 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11814 PANTHER PTHR11814:SF75 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11814:SF75 PROSITE PS50801 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50801 PSORT swissprot:S26A7_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S26A7_HUMAN PSORT-B swissprot:S26A7_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S26A7_HUMAN PSORT2 swissprot:S26A7_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S26A7_HUMAN Pfam PF00916 http://pfam.xfam.org/family/PF00916 Pfam PF01740 http://pfam.xfam.org/family/PF01740 PharmGKB PA37884 http://www.pharmgkb.org/do/serve?objId=PA37884&objCls=Gene Phobius swissprot:S26A7_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S26A7_HUMAN PhylomeDB Q8TE54 http://phylomedb.org/?seqid=Q8TE54 ProteinModelPortal Q8TE54 http://www.proteinmodelportal.org/query/uniprot/Q8TE54 PubMed 11829495 http://www.ncbi.nlm.nih.gov/pubmed/11829495 PubMed 11834742 http://www.ncbi.nlm.nih.gov/pubmed/11834742 PubMed 12736153 http://www.ncbi.nlm.nih.gov/pubmed/12736153 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15956810 http://www.ncbi.nlm.nih.gov/pubmed/15956810 PubMed 16524946 http://www.ncbi.nlm.nih.gov/pubmed/16524946 PubMed 17504921 http://www.ncbi.nlm.nih.gov/pubmed/17504921 Reactome R-HSA-427601 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-427601 RefSeq NP_001269285 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001269285 RefSeq NP_001269286 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001269286 RefSeq NP_439897 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_439897 RefSeq NP_599028 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_599028 STRING 9606.ENSP00000309504 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000309504&targetmode=cogs SUPFAM SSF52091 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52091 TCDB 2.A.53.2 http://www.tcdb.org/search/result.php?tc=2.A.53.2 UCSC uc003yex http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003yex&org=rat UniGene Hs.354013 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.354013 UniProtKB S26A7_HUMAN http://www.uniprot.org/uniprot/S26A7_HUMAN UniProtKB-AC Q8TE54 http://www.uniprot.org/uniprot/Q8TE54 charge swissprot:S26A7_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S26A7_HUMAN eggNOG COG0659 http://eggnogapi.embl.de/nog_data/html/tree/COG0659 eggNOG KOG0236 http://eggnogapi.embl.de/nog_data/html/tree/KOG0236 epestfind swissprot:S26A7_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S26A7_HUMAN garnier swissprot:S26A7_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S26A7_HUMAN helixturnhelix swissprot:S26A7_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S26A7_HUMAN hmoment swissprot:S26A7_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S26A7_HUMAN iep swissprot:S26A7_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S26A7_HUMAN inforesidue swissprot:S26A7_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S26A7_HUMAN neXtProt NX_Q8TE54 http://www.nextprot.org/db/entry/NX_Q8TE54 octanol swissprot:S26A7_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S26A7_HUMAN pepcoil swissprot:S26A7_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S26A7_HUMAN pepdigest swissprot:S26A7_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S26A7_HUMAN pepinfo swissprot:S26A7_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S26A7_HUMAN pepnet swissprot:S26A7_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S26A7_HUMAN pepstats swissprot:S26A7_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S26A7_HUMAN pepwheel swissprot:S26A7_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S26A7_HUMAN pepwindow swissprot:S26A7_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S26A7_HUMAN sigcleave swissprot:S26A7_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S26A7_HUMAN ## Database ID URL or Descriptions # CAUTION Could be the product of a pseudogene. {ECO 0000305}. # Ensembl ENST00000505920 ENSP00000421076; ENSG00000249222 # FUNCTION AT5L2_HUMAN Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(0) domain. Minor subunit located with subunit a in the membrane (By similarity). {ECO 0000250}. # GO_component GO:0000276 mitochondrial proton-transporting ATP synthase complex, coupling factor F(o); IBA:GO_Central. # GO_component GO:0005739 mitochondrion; IDA:HPA. # GO_function GO:0015078 hydrogen ion transmembrane transporter activity; IEA:InterPro. # GO_process GO:0015986 ATP synthesis coupled proton transport; IBA:GO_Central. # GOslim_component GO:0005739 mitochondrion # GOslim_component GO:0043234 protein complex # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0044281 small molecule metabolic process # GOslim_process GO:0055085 transmembrane transport # HGNC HGNC:13213 ATP5L2 # InterPro IPR006808 ATP_synth_F0_gsu_mt # InterPro IPR016702 ATP_synth_su_G_mt_met # Organism AT5L2_HUMAN Homo sapiens (Human) # PANTHER PTHR12386 PTHR12386 # PIRSF PIRSF017835 ATP-synth_g_mitoch_animal # Pfam PF04718 ATP-synt_G # Proteomes UP000005640 Chromosome 22 # RecName AT5L2_HUMAN ATP synthase subunit g 2, mitochondrial # RefSeq NP_001159349 NM_001165877.1 # SIMILARITY Belongs to the ATPase g subunit family. {ECO 0000305}. # SUBCELLULAR LOCATION AT5L2_HUMAN Mitochondrion membrane {ECO 0000250}. # SUBUNIT F-type ATPases have 2 components, CF(1) - the catalytic core - and CF(0) - the membrane proton channel. CF(0) seems to have nine subunits a, b, c, d, e, f, g, F6 and 8 (or A6L). # UCSC uc003bda human # eggNOG ENOG4111TZ1 LUCA # eggNOG KOG4103 Eukaryota BLAST swissprot:AT5L2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:AT5L2_HUMAN BioCyc ZFISH:G66-31097-MONOMER http://biocyc.org/getid?id=ZFISH:G66-31097-MONOMER COXPRESdb 267020 http://coxpresdb.jp/data/gene/267020.shtml DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AF092923 http://www.ebi.ac.uk/ena/data/view/AF092923 EMBL BC093719 http://www.ebi.ac.uk/ena/data/view/BC093719 EMBL BC093721 http://www.ebi.ac.uk/ena/data/view/BC093721 Ensembl ENST00000505920 http://www.ensembl.org/id/ENST00000505920 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000276 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000276 GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_function GO:0015078 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015078 GO_process GO:0015986 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015986 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards ATP5L2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ATP5L2 GeneID 267020 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=267020 GeneTree ENSGT00390000009724 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000009724 HGNC HGNC:13213 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:13213 HOGENOM HOG000007506 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000007506&db=HOGENOM6 HOVERGEN HBG050614 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050614&db=HOVERGEN HPA HPA044629 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA044629 InParanoid Q7Z4Y8 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q7Z4Y8 InterPro IPR006808 http://www.ebi.ac.uk/interpro/entry/IPR006808 InterPro IPR016702 http://www.ebi.ac.uk/interpro/entry/IPR016702 Jabion 267020 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=267020 KEGG_Gene hsa:267020 http://www.genome.jp/dbget-bin/www_bget?hsa:267020 OMA ATEVSTW http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=ATEVSTW OrthoDB EOG091G16ZZ http://cegg.unige.ch/orthodb/results?searchtext=EOG091G16ZZ PANTHER PTHR12386 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12386 PSORT swissprot:AT5L2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:AT5L2_HUMAN PSORT-B swissprot:AT5L2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:AT5L2_HUMAN PSORT2 swissprot:AT5L2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:AT5L2_HUMAN Pfam PF04718 http://pfam.xfam.org/family/PF04718 PharmGKB PA134948694 http://www.pharmgkb.org/do/serve?objId=PA134948694&objCls=Gene Phobius swissprot:AT5L2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:AT5L2_HUMAN PhylomeDB Q7Z4Y8 http://phylomedb.org/?seqid=Q7Z4Y8 ProteinModelPortal Q7Z4Y8 http://www.proteinmodelportal.org/query/uniprot/Q7Z4Y8 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 RefSeq NP_001159349 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001159349 STRING 9606.ENSP00000421076 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000421076&targetmode=cogs UCSC uc003bda http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003bda&org=rat UniGene Hs.664737 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.664737 UniProtKB AT5L2_HUMAN http://www.uniprot.org/uniprot/AT5L2_HUMAN UniProtKB-AC Q7Z4Y8 http://www.uniprot.org/uniprot/Q7Z4Y8 charge swissprot:AT5L2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:AT5L2_HUMAN eggNOG ENOG4111TZ1 http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111TZ1 eggNOG KOG4103 http://eggnogapi.embl.de/nog_data/html/tree/KOG4103 epestfind swissprot:AT5L2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:AT5L2_HUMAN garnier swissprot:AT5L2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:AT5L2_HUMAN helixturnhelix swissprot:AT5L2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:AT5L2_HUMAN hmoment swissprot:AT5L2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:AT5L2_HUMAN iep swissprot:AT5L2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:AT5L2_HUMAN inforesidue swissprot:AT5L2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:AT5L2_HUMAN neXtProt NX_Q7Z4Y8 http://www.nextprot.org/db/entry/NX_Q7Z4Y8 octanol swissprot:AT5L2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:AT5L2_HUMAN pepcoil swissprot:AT5L2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:AT5L2_HUMAN pepdigest swissprot:AT5L2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:AT5L2_HUMAN pepinfo swissprot:AT5L2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:AT5L2_HUMAN pepnet swissprot:AT5L2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:AT5L2_HUMAN pepstats swissprot:AT5L2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:AT5L2_HUMAN pepwheel swissprot:AT5L2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:AT5L2_HUMAN pepwindow swissprot:AT5L2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:AT5L2_HUMAN sigcleave swissprot:AT5L2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:AT5L2_HUMAN ## Database ID URL or Descriptions # BioGrid 939591 34 # Ensembl ENST00000580018 ENSP00000464522; ENSG00000265354 # FUNCTION TIM23_HUMAN Essential component of the TIM23 complex, a complex that mediates the translocation of transit peptide-containing proteins across the mitochondrial inner membrane. # GO_component GO:0005739 mitochondrion; IDA:HPA. # GO_component GO:0005743 mitochondrial inner membrane; IDA:UniProtKB. # GO_component GO:0005744 mitochondrial inner membrane presequence translocase complex; IDA:BHF-UCL. # GO_component GO:0005758 mitochondrial intermembrane space; IDA:MGI. # GO_component GO:0031305 integral component of mitochondrial inner membrane; IDA:BHF-UCL. # GO_function GO:0015266 protein channel activity; IBA:GO_Central. # GO_function GO:0015450 P-P-bond-hydrolysis-driven protein transmembrane transporter activity; IEA:InterPro. # GO_process GO:0006626 protein targeting to mitochondrion; TAS:ProtInc. # GO_process GO:0030150 protein import into mitochondrial matrix; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005739 mitochondrion # GOslim_component GO:0043234 protein complex # GOslim_function GO:0008565 protein transporter activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006605 protein targeting # GOslim_process GO:0055085 transmembrane transport # Genevisible O14925 HS # HGNC HGNC:17312 TIMM23 # INTERACTION TIM23_HUMAN Q9BVV7 TIMM21; NbExp=3; IntAct=EBI-1047996, EBI-6570759; # IntAct O14925 24 # InterPro IPR003397 Tim17/Tim22/Tim23/PMP24 # InterPro IPR005681 Tim23 # MIM 605034 gene # Organism TIM23_HUMAN Homo sapiens (Human) # Pfam PF02466 Tim17 # Proteomes UP000005640 Chromosome 10 # Reactome R-HSA-1268020 Mitochondrial protein import # RecName TIM23_HUMAN Mitochondrial import inner membrane translocase subunit Tim23 # RefSeq NP_006318 NM_006327.3 # SIMILARITY Belongs to the Tim17/Tim22/Tim23 family. {ECO 0000305}. # SUBCELLULAR LOCATION TIM23_HUMAN Mitochondrion inner membrane {ECO 0000269|PubMed 25997101}; Multi-pass membrane protein {ECO 0000255}. # SUBUNIT TIM23_HUMAN Component of the TIM23 complex at least composed of TIMM23, TIMM17 (TIMM17A or TIMM17B) and TIMM50; within this complex, directly interacts with TIMM50. The complex interacts with the TIMM44 component of the PAM complex and with DNAJC15. {ECO 0000269|PubMed 15044455, ECO 0000269|PubMed 23263864}. # TIGRFAMs TIGR00983 3a0801s02tim23 # UCSC uc001jiu human # eggNOG COG5596 LUCA # eggNOG KOG3324 Eukaryota BLAST swissprot:TIM23_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:TIM23_HUMAN BioCyc ZFISH:ENSG00000138297-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000138297-MONOMER COXPRESdb 100287932 http://coxpresdb.jp/data/gene/100287932.shtml CleanEx HS_TIMM23 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_TIMM23 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1006/jmbi.1999.2751 http://dx.doi.org/10.1006/jmbi.1999.2751 DOI 10.1038/nature02462 http://dx.doi.org/10.1038/nature02462 DOI 10.1074/jbc.M402049200 http://dx.doi.org/10.1074/jbc.M402049200 DOI 10.1093/hmg/dds541 http://dx.doi.org/10.1093/hmg/dds541 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.7554/eLife.06265 http://dx.doi.org/10.7554/eLife.06265 EMBL AF030162 http://www.ebi.ac.uk/ena/data/view/AF030162 EMBL AK223331 http://www.ebi.ac.uk/ena/data/view/AK223331 EMBL AL450342 http://www.ebi.ac.uk/ena/data/view/AL450342 EMBL AY442341 http://www.ebi.ac.uk/ena/data/view/AY442341 EMBL BC062707 http://www.ebi.ac.uk/ena/data/view/BC062707 EMBL BC066951 http://www.ebi.ac.uk/ena/data/view/BC066951 Ensembl ENST00000580018 http://www.ensembl.org/id/ENST00000580018 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0005744 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005744 GO_component GO:0005758 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005758 GO_component GO:0031305 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031305 GO_function GO:0015266 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015266 GO_function GO:0015450 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015450 GO_process GO:0006626 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006626 GO_process GO:0030150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030150 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006605 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006605 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards TIMM23 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=TIMM23 GeneID 100287932 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=100287932 GeneTree ENSGT00390000001094 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000001094 HGNC HGNC:17312 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:17312 HOGENOM HOG000166435 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000166435&db=HOGENOM6 HOVERGEN HBG057526 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG057526&db=HOVERGEN HPA HPA031408 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA031408 InParanoid O14925 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O14925 IntAct O14925 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O14925* InterPro IPR003397 http://www.ebi.ac.uk/interpro/entry/IPR003397 InterPro IPR005681 http://www.ebi.ac.uk/interpro/entry/IPR005681 Jabion 100287932 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=100287932 KEGG_Gene hsa:100287932 http://www.genome.jp/dbget-bin/www_bget?hsa:100287932 MIM 605034 http://www.ncbi.nlm.nih.gov/omim/605034 MINT MINT-2998436 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-2998436 OMA MSPISPY http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=MSPISPY OrthoDB EOG091G0NP6 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0NP6 PSORT swissprot:TIM23_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:TIM23_HUMAN PSORT-B swissprot:TIM23_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:TIM23_HUMAN PSORT2 swissprot:TIM23_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:TIM23_HUMAN Pfam PF02466 http://pfam.xfam.org/family/PF02466 PharmGKB PA38227 http://www.pharmgkb.org/do/serve?objId=PA38227&objCls=Gene Phobius swissprot:TIM23_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:TIM23_HUMAN PhylomeDB O14925 http://phylomedb.org/?seqid=O14925 ProteinModelPortal O14925 http://www.proteinmodelportal.org/query/uniprot/O14925 PubMed 10339406 http://www.ncbi.nlm.nih.gov/pubmed/10339406 PubMed 15044455 http://www.ncbi.nlm.nih.gov/pubmed/15044455 PubMed 15164054 http://www.ncbi.nlm.nih.gov/pubmed/15164054 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 23263864 http://www.ncbi.nlm.nih.gov/pubmed/23263864 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 25997101 http://www.ncbi.nlm.nih.gov/pubmed/25997101 Reactome R-HSA-1268020 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1268020 RefSeq NP_006318 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_006318 STRING 9606.ENSP00000260867 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000260867&targetmode=cogs TIGRFAMs TIGR00983 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00983 UCSC uc001jiu http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001jiu&org=rat UniGene Hs.524308 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.524308 UniGene Hs.661964 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.661964 UniProtKB TIM23_HUMAN http://www.uniprot.org/uniprot/TIM23_HUMAN UniProtKB-AC O14925 http://www.uniprot.org/uniprot/O14925 charge swissprot:TIM23_HUMAN http://rest.g-language.org/emboss/charge/swissprot:TIM23_HUMAN eggNOG COG5596 http://eggnogapi.embl.de/nog_data/html/tree/COG5596 eggNOG KOG3324 http://eggnogapi.embl.de/nog_data/html/tree/KOG3324 epestfind swissprot:TIM23_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:TIM23_HUMAN garnier swissprot:TIM23_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:TIM23_HUMAN helixturnhelix swissprot:TIM23_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:TIM23_HUMAN hmoment swissprot:TIM23_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:TIM23_HUMAN iep swissprot:TIM23_HUMAN http://rest.g-language.org/emboss/iep/swissprot:TIM23_HUMAN inforesidue swissprot:TIM23_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:TIM23_HUMAN neXtProt NX_O14925 http://www.nextprot.org/db/entry/NX_O14925 octanol swissprot:TIM23_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:TIM23_HUMAN pepcoil swissprot:TIM23_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:TIM23_HUMAN pepdigest swissprot:TIM23_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:TIM23_HUMAN pepinfo swissprot:TIM23_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:TIM23_HUMAN pepnet swissprot:TIM23_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:TIM23_HUMAN pepstats swissprot:TIM23_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:TIM23_HUMAN pepwheel swissprot:TIM23_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:TIM23_HUMAN pepwindow swissprot:TIM23_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:TIM23_HUMAN sigcleave swissprot:TIM23_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:TIM23_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS ASIC4_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q96FT7-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q96FT7-2; Sequence=VSP_015609, VSP_015610; Note=No experimental confirmation available.; Name=3; IsoId=Q96FT7-4; Sequence=VSP_015611; # AltName ASIC4_HUMAN Amiloride-sensitive cation channel 4 # AltName ASIC4_HUMAN Amiloride-sensitive cation channel 4, pituitary # BioGrid 120693 40 # CCDS CCDS2442 -. [Q96FT7-1] # ChiTaRS ASIC4 human # Ensembl ENST00000347842 ENSP00000326627; ENSG00000072182. [Q96FT7-1] # Ensembl ENST00000358078 ENSP00000350786; ENSG00000072182. [Q96FT7-4] # FUNCTION ASIC4_HUMAN Probable cation channel with high affinity for sodium. In vitro, has no proton-gated channel activity. {ECO 0000269|PubMed 10852210}. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_function GO:0005216 ion channel activity; TAS:ProtInc. # GO_function GO:0005272 sodium channel activity; IEA:UniProtKB-KW. # GO_function GO:0015081 sodium ion transmembrane transporter activity; TAS:ProtInc. # GO_process GO:0006810 transport; TAS:ProtInc. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # Genevisible Q96FT7 HS # HGNC HGNC:21263 ASIC4 # IntAct Q96FT7 2 # InterPro IPR001873 Na+channel_ASC # InterPro IPR020903 Na+channel_ASC_CS # KEGG_Brite ko04040 Ion channels # MIM 606715 gene # Organism ASIC4_HUMAN Homo sapiens (Human) # PANTHER PTHR11690 PTHR11690 # PRINTS PR01078 AMINACHANNEL # PROSITE PS01206 ASC # Pfam PF00858 ASC # Proteomes UP000005640 Chromosome 2 # Reactome R-HSA-2672351 Stimuli-sensing channels # RecName ASIC4_HUMAN Acid-sensing ion channel 4 # RefSeq NP_061144 NM_018674.5 # RefSeq NP_878267 NM_182847.2. [Q96FT7-1] # SEQUENCE CAUTION Sequence=CAB93980.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAC51338.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family. ASIC4 subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION ASIC4_HUMAN Membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. # SUBUNIT Homotrimer or heterotrimer with other ASIC proteins. {ECO 0000250}. # TISSUE SPECIFICITY Expressed in pituitary gland. Weakly expressed in brain, vestibular system and organ of Corti. {ECO:0000269|PubMed 10852210}. # UCSC uc002vma human. [Q96FT7-1] # eggNOG ENOG410ZNFK LUCA # eggNOG KOG4294 Eukaryota BLAST swissprot:ASIC4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ASIC4_HUMAN COXPRESdb 55515 http://coxpresdb.jp/data/gene/55515.shtml CleanEx HS_ACCN4 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ACCN4 DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1038/sj.ejhg.5200699 http://dx.doi.org/10.1038/sj.ejhg.5200699 DOI 10.1097/00001756-200006050-00003 http://dx.doi.org/10.1097/00001756-200006050-00003 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AC009955 http://www.ebi.ac.uk/ena/data/view/AC009955 EMBL AC053503 http://www.ebi.ac.uk/ena/data/view/AC053503 EMBL AC139723 http://www.ebi.ac.uk/ena/data/view/AC139723 EMBL AJ271643 http://www.ebi.ac.uk/ena/data/view/AJ271643 EMBL AJ408881 http://www.ebi.ac.uk/ena/data/view/AJ408881 EMBL AJ408882 http://www.ebi.ac.uk/ena/data/view/AJ408882 EMBL AJ408883 http://www.ebi.ac.uk/ena/data/view/AJ408883 EMBL AJ408884 http://www.ebi.ac.uk/ena/data/view/AJ408884 EMBL BC010439 http://www.ebi.ac.uk/ena/data/view/BC010439 EMBL BC031812 http://www.ebi.ac.uk/ena/data/view/BC031812 Ensembl ENST00000347842 http://www.ensembl.org/id/ENST00000347842 Ensembl ENST00000358078 http://www.ensembl.org/id/ENST00000358078 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0005216 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005216 GO_function GO:0005272 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005272 GO_function GO:0015081 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015081 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GeneCards ASIC4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ASIC4 GeneID 55515 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=55515 GeneTree ENSGT00760000119120 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119120 H-InvDB HIX0002867 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0002867 HGNC HGNC:21263 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:21263 HOGENOM HOG000247010 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000247010&db=HOGENOM6 HOVERGEN HBG004150 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG004150&db=HOVERGEN HPA CAB032529 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB032529 HPA HPA036042 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA036042 InParanoid Q96FT7 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q96FT7 IntAct Q96FT7 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q96FT7* InterPro IPR001873 http://www.ebi.ac.uk/interpro/entry/IPR001873 InterPro IPR020903 http://www.ebi.ac.uk/interpro/entry/IPR020903 Jabion 55515 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=55515 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:55515 http://www.genome.jp/dbget-bin/www_bget?hsa:55515 KEGG_Orthology KO:K04831 http://www.genome.jp/dbget-bin/www_bget?KO:K04831 MIM 606715 http://www.ncbi.nlm.nih.gov/omim/606715 OMA QHQGCGA http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=QHQGCGA OrthoDB EOG091G053J http://cegg.unige.ch/orthodb/results?searchtext=EOG091G053J PANTHER PTHR11690 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11690 PRINTS PR01078 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01078 PROSITE PS01206 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS01206 PSORT swissprot:ASIC4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ASIC4_HUMAN PSORT-B swissprot:ASIC4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ASIC4_HUMAN PSORT2 swissprot:ASIC4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ASIC4_HUMAN Pfam PF00858 http://pfam.xfam.org/family/PF00858 PharmGKB PA134956731 http://www.pharmgkb.org/do/serve?objId=PA134956731&objCls=Gene Phobius swissprot:ASIC4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ASIC4_HUMAN PhylomeDB Q96FT7 http://phylomedb.org/?seqid=Q96FT7 ProteinModelPortal Q96FT7 http://www.proteinmodelportal.org/query/uniprot/Q96FT7 PubMed 10852210 http://www.ncbi.nlm.nih.gov/pubmed/10852210 PubMed 11571555 http://www.ncbi.nlm.nih.gov/pubmed/11571555 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 Reactome R-HSA-2672351 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2672351 RefSeq NP_061144 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_061144 RefSeq NP_878267 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_878267 SMR Q96FT7 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q96FT7 STRING 9606.ENSP00000326627 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000326627&targetmode=cogs UCSC uc002vma http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002vma&org=rat UniGene Hs.87469 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.87469 UniProtKB ASIC4_HUMAN http://www.uniprot.org/uniprot/ASIC4_HUMAN UniProtKB-AC Q96FT7 http://www.uniprot.org/uniprot/Q96FT7 charge swissprot:ASIC4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ASIC4_HUMAN eggNOG ENOG410ZNFK http://eggnogapi.embl.de/nog_data/html/tree/ENOG410ZNFK eggNOG KOG4294 http://eggnogapi.embl.de/nog_data/html/tree/KOG4294 epestfind swissprot:ASIC4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ASIC4_HUMAN garnier swissprot:ASIC4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ASIC4_HUMAN helixturnhelix swissprot:ASIC4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ASIC4_HUMAN hmoment swissprot:ASIC4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ASIC4_HUMAN iep swissprot:ASIC4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ASIC4_HUMAN inforesidue swissprot:ASIC4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ASIC4_HUMAN neXtProt NX_Q96FT7 http://www.nextprot.org/db/entry/NX_Q96FT7 octanol swissprot:ASIC4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ASIC4_HUMAN pepcoil swissprot:ASIC4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ASIC4_HUMAN pepdigest swissprot:ASIC4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ASIC4_HUMAN pepinfo swissprot:ASIC4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ASIC4_HUMAN pepnet swissprot:ASIC4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ASIC4_HUMAN pepstats swissprot:ASIC4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ASIC4_HUMAN pepwheel swissprot:ASIC4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ASIC4_HUMAN pepwindow swissprot:ASIC4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ASIC4_HUMAN sigcleave swissprot:ASIC4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ASIC4_HUMAN ## Database ID URL or Descriptions # AltName CX6B2_HUMAN Cancer/testis antigen 59 # AltName CX6B2_HUMAN Cytochrome c oxidase subunit VIb isoform 2 # AltName CX6B2_HUMAN Cytochrome c oxidase subunit VIb, testis-specific isoform # BioGrid 125940 2 # CDD cd00926 Cyt_c_Oxidase_VIb # Ensembl ENST00000326529 ENSP00000320672; ENSG00000160471 # Ensembl ENST00000588572 ENSP00000467959; ENSG00000160471 # Ensembl ENST00000589467 ENSP00000476768; ENSG00000160471 # Ensembl ENST00000590900 ENSP00000467128; ENSG00000160471 # Ensembl ENST00000593184 ENSP00000467266; ENSG00000160471 # FUNCTION CX6B2_HUMAN Connects the two COX monomers into the physiological dimeric form. {ECO 0000250}. # GO_component GO:0005758 mitochondrial intermembrane space; IEA:UniProtKB-SubCell. # GO_component GO:0030061 mitochondrial crista; IDA:MGI. # GO_function GO:0004129 cytochrome-c oxidase activity; IEA:InterPro. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0016491 oxidoreductase activity # GOslim_function GO:0022857 transmembrane transporter activity # Gene3D 1.10.10.140 -; 1. # Genevisible Q6YFQ2 HS # HGNC HGNC:24380 COX6B2 # INTERACTION CX6B2_HUMAN Q96NE9 FRMD6; NbExp=3; IntAct=EBI-10291911, EBI-741729; # IntAct Q6YFQ2 2 # InterPro IPR003213 Cyt_c_oxidase_su6B # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Pathway ko00190 Oxidative phosphorylation # KEGG_Pathway ko04260 Cardiac muscle contraction # KEGG_Pathway ko05010 Alzheimer's disease # KEGG_Pathway ko05012 Parkinson's disease # KEGG_Pathway ko05016 Huntington's disease # Organism CX6B2_HUMAN Homo sapiens (Human) # PIRSF PIRSF000278 Cyt_c_oxidase_6B # PROSITE PS51808 CHCH # Pfam PF02297 COX6B # Proteomes UP000005640 Chromosome 19 # RecName CX6B2_HUMAN Cytochrome c oxidase subunit 6B2 # RefSeq NP_653214 NM_144613.4 # SIMILARITY Belongs to the cytochrome c oxidase subunit 6B family. {ECO 0000305}. # SIMILARITY Contains 1 CHCH (coiled coil-helix-coiled coil-helix) domain. {ECO:0000255|PROSITE-ProRule PRU01150}. # SUBCELLULAR LOCATION CX6B2_HUMAN Mitochondrion intermembrane space {ECO 0000250}. # SUPFAM SSF47694 SSF47694 # TCDB 3.D.4.11 the proton-translocating cytochrome oxidase (cox) superfamily # TISSUE SPECIFICITY CX6B2_HUMAN Testis specific. Weak expression in thymus and heart. Expressed in cancer cell lines. {ECO 0000269|PubMed 12874793, ECO 0000269|PubMed 15905330}. # UCSC uc002qkn human # eggNOG ENOG41121WM LUCA # eggNOG KOG3057 Eukaryota BLAST swissprot:CX6B2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CX6B2_HUMAN BioCyc ZFISH:HS14814-MONOMER http://biocyc.org/getid?id=ZFISH:HS14814-MONOMER COXPRESdb 125965 http://coxpresdb.jp/data/gene/125965.shtml CleanEx HS_COX6B2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_COX6B2 DOI 10.1002/mrd.10327 http://dx.doi.org/10.1002/mrd.10327 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.0502583102 http://dx.doi.org/10.1073/pnas.0502583102 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AK057427 http://www.ebi.ac.uk/ena/data/view/AK057427 EMBL AY152398 http://www.ebi.ac.uk/ena/data/view/AY152398 EMBL BC026123 http://www.ebi.ac.uk/ena/data/view/BC026123 EMBL BC100899 http://www.ebi.ac.uk/ena/data/view/BC100899 EMBL BC100900 http://www.ebi.ac.uk/ena/data/view/BC100900 EMBL BC100901 http://www.ebi.ac.uk/ena/data/view/BC100901 EMBL BC100902 http://www.ebi.ac.uk/ena/data/view/BC100902 Ensembl ENST00000326529 http://www.ensembl.org/id/ENST00000326529 Ensembl ENST00000588572 http://www.ensembl.org/id/ENST00000588572 Ensembl ENST00000589467 http://www.ensembl.org/id/ENST00000589467 Ensembl ENST00000590900 http://www.ensembl.org/id/ENST00000590900 Ensembl ENST00000593184 http://www.ensembl.org/id/ENST00000593184 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005758 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005758 GO_component GO:0030061 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030061 GO_function GO:0004129 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004129 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0016491 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016491 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 Gene3D 1.10.10.140 http://www.cathdb.info/version/latest/superfamily/1.10.10.140 GeneCards COX6B2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=COX6B2 GeneID 125965 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=125965 GeneTree ENSGT00390000001191 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000001191 HGNC HGNC:24380 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:24380 HOGENOM HOG000165128 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000165128&db=HOGENOM6 HOVERGEN HBG051090 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG051090&db=HOVERGEN HPA HPA035014 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA035014 InParanoid Q6YFQ2 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q6YFQ2 IntAct Q6YFQ2 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q6YFQ2* InterPro IPR003213 http://www.ebi.ac.uk/interpro/entry/IPR003213 Jabion 125965 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=125965 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00002 http://www.genome.jp/dbget-bin/www_bget?ko00002 KEGG_Gene hsa:125965 http://www.genome.jp/dbget-bin/www_bget?hsa:125965 KEGG_Orthology KO:K02267 http://www.genome.jp/dbget-bin/www_bget?KO:K02267 KEGG_Pathway ko00190 http://www.genome.jp/kegg-bin/show_pathway?ko00190 KEGG_Pathway ko04260 http://www.genome.jp/kegg-bin/show_pathway?ko04260 KEGG_Pathway ko05010 http://www.genome.jp/kegg-bin/show_pathway?ko05010 KEGG_Pathway ko05012 http://www.genome.jp/kegg-bin/show_pathway?ko05012 KEGG_Pathway ko05016 http://www.genome.jp/kegg-bin/show_pathway?ko05016 OMA ISWVQRW http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=ISWVQRW OrthoDB EOG091G0UIB http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0UIB PROSITE PS51808 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51808 PSORT swissprot:CX6B2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CX6B2_HUMAN PSORT-B swissprot:CX6B2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CX6B2_HUMAN PSORT2 swissprot:CX6B2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CX6B2_HUMAN Pfam PF02297 http://pfam.xfam.org/family/PF02297 PharmGKB PA134869389 http://www.pharmgkb.org/do/serve?objId=PA134869389&objCls=Gene Phobius swissprot:CX6B2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CX6B2_HUMAN PhylomeDB Q6YFQ2 http://phylomedb.org/?seqid=Q6YFQ2 ProteinModelPortal Q6YFQ2 http://www.proteinmodelportal.org/query/uniprot/Q6YFQ2 PubMed 12874793 http://www.ncbi.nlm.nih.gov/pubmed/12874793 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15905330 http://www.ncbi.nlm.nih.gov/pubmed/15905330 RefSeq NP_653214 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_653214 SMR Q6YFQ2 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q6YFQ2 STRING 9606.ENSP00000320672 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000320672&targetmode=cogs SUPFAM SSF47694 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF47694 TCDB 3.D.4.11 http://www.tcdb.org/search/result.php?tc=3.D.4.11 UCSC uc002qkn http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002qkn&org=rat UniGene Hs.550544 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.550544 UniProtKB CX6B2_HUMAN http://www.uniprot.org/uniprot/CX6B2_HUMAN UniProtKB-AC Q6YFQ2 http://www.uniprot.org/uniprot/Q6YFQ2 charge swissprot:CX6B2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CX6B2_HUMAN eggNOG ENOG41121WM http://eggnogapi.embl.de/nog_data/html/tree/ENOG41121WM eggNOG KOG3057 http://eggnogapi.embl.de/nog_data/html/tree/KOG3057 epestfind swissprot:CX6B2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CX6B2_HUMAN garnier swissprot:CX6B2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CX6B2_HUMAN helixturnhelix swissprot:CX6B2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CX6B2_HUMAN hmoment swissprot:CX6B2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CX6B2_HUMAN iep swissprot:CX6B2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CX6B2_HUMAN inforesidue swissprot:CX6B2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CX6B2_HUMAN neXtProt NX_Q6YFQ2 http://www.nextprot.org/db/entry/NX_Q6YFQ2 octanol swissprot:CX6B2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CX6B2_HUMAN pepcoil swissprot:CX6B2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CX6B2_HUMAN pepdigest swissprot:CX6B2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CX6B2_HUMAN pepinfo swissprot:CX6B2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CX6B2_HUMAN pepnet swissprot:CX6B2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CX6B2_HUMAN pepstats swissprot:CX6B2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CX6B2_HUMAN pepwheel swissprot:CX6B2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CX6B2_HUMAN pepwindow swissprot:CX6B2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CX6B2_HUMAN sigcleave swissprot:CX6B2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CX6B2_HUMAN ## Database ID URL or Descriptions # AltName S38A3_HUMAN N-system amino acid transporter 1 # AltName S38A3_HUMAN Na(+)-coupled neutral amino acid transporter 3 # AltName S38A3_HUMAN Solute carrier family 38 member 3 # AltName S38A3_HUMAN System N amino acid transporter 1 # BioGrid 116187 5 # ChiTaRS SLC38A3 human # DrugBank DB00117 L-Histidine # DrugBank DB00130 L-Glutamine # DrugBank DB00174 L-Asparagine # Ensembl ENST00000614032 ENSP00000481301; ENSG00000188338 # ExpressionAtlas Q99624 baseline and differential # FUNCTION S38A3_HUMAN Sodium-dependent amino acid/proton antiporter. Mediates electrogenic cotransport of glutamine and sodium ions in exchange for protons. Also recognizes histidine, asparagine and alanine. May mediate amino acid transport in either direction under physiological conditions. May play a role in nitrogen metabolism and synaptic transmission. {ECO 0000250|UniProtKB Q9JHZ9, ECO 0000269|PubMed 10823827}. # GO_component GO:0005886 plasma membrane; IDA:LIFEdb. # GO_component GO:0005887 integral component of plasma membrane; ISS:UniProtKB. # GO_component GO:0016323 basolateral plasma membrane; IEA:Ensembl. # GO_function GO:0005290 L-histidine transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0015171 amino acid transmembrane transporter activity; TAS:Reactome. # GO_function GO:0015180 L-alanine transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0015182 L-asparagine transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0015186 L-glutamine transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0015293 symporter activity; IEA:UniProtKB-KW. # GO_function GO:0015297 antiporter activity; IEA:UniProtKB-KW. # GO_process GO:0006814 sodium ion transport; IEA:UniProtKB-KW. # GO_process GO:0006865 amino acid transport; TAS:Reactome. # GO_process GO:0006867 asparagine transport; IDA:UniProtKB. # GO_process GO:0006868 glutamine transport; IDA:UniProtKB. # GO_process GO:0007420 brain development; IEA:Ensembl. # GO_process GO:0007565 female pregnancy; IEA:Ensembl. # GO_process GO:0015808 L-alanine transport; IDA:UniProtKB. # GO_process GO:0015817 histidine transport; IDA:UniProtKB. # GO_process GO:0051365 cellular response to potassium ion starvation; IEA:Ensembl. # GO_process GO:0061402 positive regulation of transcription from RNA polymerase II promoter in response to acidic pH; IEA:Ensembl. # GO_process GO:2000487 positive regulation of glutamine transport; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0008150 biological_process # GOslim_process GO:0048856 anatomical structure development # Genevisible Q99624 HS # HGNC HGNC:18044 SLC38A3 # IntAct Q99624 3 # InterPro IPR013057 AA_transpt_TM # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02001 Solute carrier family # KEGG_Pathway ko04724 Glutamatergic synapse # KEGG_Pathway ko04727 GABAergic synapse # KEGG_Pathway ko04964 Proximal tubule bicarbonate reclamation # MIM 604437 gene # Organism S38A3_HUMAN Homo sapiens (Human) # Pfam PF01490 Aa_trans # Proteomes UP000005640 Chromosome 3 # Reactome R-HSA-352230 Amino acid transport across the plasma membrane # RecName S38A3_HUMAN Sodium-coupled neutral amino acid transporter 3 # RefSeq NP_006832 NM_006841.5 # RefSeq XP_006713017 XM_006712954.2 # SIMILARITY Belongs to the amino acid/polyamine transporter 2 family. {ECO 0000305}. # SUBCELLULAR LOCATION S38A3_HUMAN Cell membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. # TCDB 2.A.18.6 the amino acid/auxin permease (aaap) family # UCSC uc032rmu human BLAST swissprot:S38A3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S38A3_HUMAN BioCyc ZFISH:ENSG00000145063-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000145063-MONOMER COXPRESdb 10991 http://coxpresdb.jp/data/gene/10991.shtml CleanEx HS_NAT1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_NAT1 CleanEx HS_SLC38A3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC38A3 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1038/nature04728 http://dx.doi.org/10.1038/nature04728 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.M002282200 http://dx.doi.org/10.1074/jbc.M002282200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 DrugBank DB00117 http://www.drugbank.ca/drugs/DB00117 DrugBank DB00130 http://www.drugbank.ca/drugs/DB00130 DrugBank DB00174 http://www.drugbank.ca/drugs/DB00174 EMBL AC002077 http://www.ebi.ac.uk/ena/data/view/AC002077 EMBL AF244548 http://www.ebi.ac.uk/ena/data/view/AF244548 EMBL AK313461 http://www.ebi.ac.uk/ena/data/view/AK313461 EMBL BC042875 http://www.ebi.ac.uk/ena/data/view/BC042875 EMBL BX537382 http://www.ebi.ac.uk/ena/data/view/BX537382 EMBL CH471055 http://www.ebi.ac.uk/ena/data/view/CH471055 EMBL CR456970 http://www.ebi.ac.uk/ena/data/view/CR456970 EMBL U49082 http://www.ebi.ac.uk/ena/data/view/U49082 Ensembl ENST00000614032 http://www.ensembl.org/id/ENST00000614032 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016323 GO_function GO:0005290 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005290 GO_function GO:0015171 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015171 GO_function GO:0015180 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015180 GO_function GO:0015182 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015182 GO_function GO:0015186 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015186 GO_function GO:0015293 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015293 GO_function GO:0015297 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015297 GO_process GO:0006814 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006814 GO_process GO:0006865 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006865 GO_process GO:0006867 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006867 GO_process GO:0006868 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006868 GO_process GO:0007420 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007420 GO_process GO:0007565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007565 GO_process GO:0015808 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015808 GO_process GO:0015817 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015817 GO_process GO:0051365 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051365 GO_process GO:0061402 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061402 GO_process GO:2000487 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000487 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GeneCards SLC38A3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC38A3 GeneID 10991 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=10991 GeneTree ENSGT00760000119147 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119147 HGNC HGNC:18044 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:18044 HOVERGEN HBG059571 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG059571&db=HOVERGEN InParanoid Q99624 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q99624 IntAct Q99624 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q99624* InterPro IPR013057 http://www.ebi.ac.uk/interpro/entry/IPR013057 Jabion 10991 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=10991 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:10991 http://www.genome.jp/dbget-bin/www_bget?hsa:10991 KEGG_Orthology KO:K13576 http://www.genome.jp/dbget-bin/www_bget?KO:K13576 KEGG_Pathway ko04724 http://www.genome.jp/kegg-bin/show_pathway?ko04724 KEGG_Pathway ko04727 http://www.genome.jp/kegg-bin/show_pathway?ko04727 KEGG_Pathway ko04964 http://www.genome.jp/kegg-bin/show_pathway?ko04964 MIM 604437 http://www.ncbi.nlm.nih.gov/omim/604437 MINT MINT-1384272 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1384272 OMA GHEWEYD http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=GHEWEYD OrthoDB EOG091G0GP8 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0GP8 PSORT swissprot:S38A3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S38A3_HUMAN PSORT-B swissprot:S38A3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S38A3_HUMAN PSORT2 swissprot:S38A3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S38A3_HUMAN Pfam PF01490 http://pfam.xfam.org/family/PF01490 PharmGKB PA38281 http://www.pharmgkb.org/do/serve?objId=PA38281&objCls=Gene Phobius swissprot:S38A3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S38A3_HUMAN PhylomeDB Q99624 http://phylomedb.org/?seqid=Q99624 ProteinModelPortal Q99624 http://www.proteinmodelportal.org/query/uniprot/Q99624 PubMed 10823827 http://www.ncbi.nlm.nih.gov/pubmed/10823827 PubMed 11085536 http://www.ncbi.nlm.nih.gov/pubmed/11085536 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16641997 http://www.ncbi.nlm.nih.gov/pubmed/16641997 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 Reactome R-HSA-352230 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-352230 RefSeq NP_006832 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_006832 RefSeq XP_006713017 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006713017 TCDB 2.A.18.6 http://www.tcdb.org/search/result.php?tc=2.A.18.6 UCSC uc032rmu http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc032rmu&org=rat UniGene Hs.76460 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.76460 UniProtKB S38A3_HUMAN http://www.uniprot.org/uniprot/S38A3_HUMAN UniProtKB-AC Q99624 http://www.uniprot.org/uniprot/Q99624 charge swissprot:S38A3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S38A3_HUMAN epestfind swissprot:S38A3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S38A3_HUMAN garnier swissprot:S38A3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S38A3_HUMAN helixturnhelix swissprot:S38A3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S38A3_HUMAN hmoment swissprot:S38A3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S38A3_HUMAN iep swissprot:S38A3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S38A3_HUMAN inforesidue swissprot:S38A3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S38A3_HUMAN neXtProt NX_Q99624 http://www.nextprot.org/db/entry/NX_Q99624 octanol swissprot:S38A3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S38A3_HUMAN pepcoil swissprot:S38A3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S38A3_HUMAN pepdigest swissprot:S38A3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S38A3_HUMAN pepinfo swissprot:S38A3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S38A3_HUMAN pepnet swissprot:S38A3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S38A3_HUMAN pepstats swissprot:S38A3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S38A3_HUMAN pepwheel swissprot:S38A3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S38A3_HUMAN pepwindow swissprot:S38A3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S38A3_HUMAN sigcleave swissprot:S38A3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S38A3_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS ANO3_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9BYT9-1; Sequence=Displayed; Name=2; IsoId=Q9BYT9-2; Sequence=VSP_056893; Note=No experimental confirmation available.; # AltName ANO3_HUMAN Transmembrane protein 16C # BioGrid 122027 8 # CCDS CCDS31447 -. [Q9BYT9-1] # CCDS CCDS81557 -. [Q9BYT9-2] # ChiTaRS ANO3 human # DISEASE ANO3_HUMAN Dystonia 24 (DYT24) [MIM 615034] A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT24 is an autosomal dominant focal dystonia affecting the neck, laryngeal muscles, and muscles of the upper limbs. {ECO 0000269|PubMed 23200863}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000256737 ENSP00000256737; ENSG00000134343. [Q9BYT9-1] # Ensembl ENST00000531568 ENSP00000432394; ENSG00000134343. [Q9BYT9-2] # ExpressionAtlas Q9BYT9 baseline and differential # FUNCTION ANO3_HUMAN Has calcium-dependent phospholipid scramblase activity; scrambles phosphatidylcholine and galactosylceramide. Seems to act as potassium channel regulator and may inhibit pain signaling; can facilitate KCNT1/Slack channel activity by promoting its full single-channel conductance at very low sodium concentrations and by increasing its sodium sensitivity (By similarity). Does not exhibit calcium-activated chloride channel (CaCC) activity. {ECO 0000250|UniProtKB A2AHL1, ECO 0000269|PubMed 21984732}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0005229 intracellular calcium activated chloride channel activity; TAS:Reactome. # GO_function GO:0017128 phospholipid scramblase activity; IEA:Ensembl. # GO_process GO:0016048 detection of temperature stimulus; IEA:Ensembl. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0050982 detection of mechanical stimulus; IEA:Ensembl. # GO_process GO:0061590 calcium activated phosphatidylcholine scrambling; IEA:Ensembl. # GO_process GO:0061591 calcium activated galactosylceramide scrambling; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0007009 plasma membrane organization # GOslim_process GO:0008150 biological_process # GOslim_process GO:0055085 transmembrane transport # Genevisible Q9BYT9 HS # HGNC HGNC:14004 ANO3 # IntAct Q9BYT9 8 # InterPro IPR007632 Anoctamin # InterPro IPR031292 Anoctamin-3 # InterPro IPR032394 Anoct_dimer # MIM 610110 gene # MIM 615034 phenotype # MISCELLANEOUS ANO3_HUMAN The term 'anoctamin' was coined because these channels are anion selective and have eight (OCT) transmembrane segments. There is some dissatisfaction in the field with the Ano nomenclature because it is not certain that all the members of this family are anion channels or have the 8-transmembrane topology. # Organism ANO3_HUMAN Homo sapiens (Human) # Orphanet 93962 Autosomal dominant cervical dystonia # PANTHER PTHR12308 PTHR12308 # PANTHER PTHR12308:SF16 PTHR12308:SF16 # Pfam PF04547 Anoctamin # Pfam PF16178 Anoct_dimer # Proteomes UP000005640 Chromosome 11 # Reactome R-HSA-2672351 Stimuli-sensing channels # RecName ANO3_HUMAN Anoctamin-3 # RefSeq NP_001300655 NM_001313726.1 # RefSeq NP_001300656 NM_001313727.1. [Q9BYT9-2] # RefSeq NP_113606 NM_031418.3. [Q9BYT9-1] # RefSeq XP_016873607 XM_017018118.1. [Q9BYT9-2] # SIMILARITY Belongs to the anoctamin family. {ECO 0000305}. # SUBCELLULAR LOCATION ANO3_HUMAN Cell membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. Note=Shows an intracellular localization. {ECO 0000250}. # SUBUNIT Interacts with KCNT1/Slack. {ECO:0000250|UniProtKB A2AHL1}. # TCDB 1.A.17.1.20 the calcium-dependent chloride channel (ca-clc) family # TISSUE SPECIFICITY Highly expressed in the forebrain striatum. {ECO:0000269|PubMed 23200863}. # UCSC uc001mqt human. [Q9BYT9-1] # eggNOG ENOG410XS4S LUCA # eggNOG KOG2514 Eukaryota BLAST swissprot:ANO3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ANO3_HUMAN BioCyc ZFISH:ENSG00000134343-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000134343-MONOMER COXPRESdb 63982 http://coxpresdb.jp/data/gene/63982.shtml CleanEx HS_ANO3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ANO3 DOI 10.1007/s00424-011-0975-9 http://dx.doi.org/10.1007/s00424-011-0975-9 DOI 10.1016/j.ajhg.2012.10.024 http://dx.doi.org/10.1016/j.ajhg.2012.10.024 DOI 10.1038/aps.2011.48 http://dx.doi.org/10.1038/aps.2011.48 DOI 10.1038/nature04632 http://dx.doi.org/10.1038/nature04632 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1113/expphysiol.2011.058198 http://dx.doi.org/10.1113/expphysiol.2011.058198 DOI 10.1113/expphysiol.2011.058214 http://dx.doi.org/10.1113/expphysiol.2011.058214 EMBL AC021698 http://www.ebi.ac.uk/ena/data/view/AC021698 EMBL AC036114 http://www.ebi.ac.uk/ena/data/view/AC036114 EMBL AC079064 http://www.ebi.ac.uk/ena/data/view/AC079064 EMBL AC083755 http://www.ebi.ac.uk/ena/data/view/AC083755 EMBL AC099687 http://www.ebi.ac.uk/ena/data/view/AC099687 EMBL AJ300461 http://www.ebi.ac.uk/ena/data/view/AJ300461 EMBL AK295816 http://www.ebi.ac.uk/ena/data/view/AK295816 Ensembl ENST00000256737 http://www.ensembl.org/id/ENST00000256737 Ensembl ENST00000531568 http://www.ensembl.org/id/ENST00000531568 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005229 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005229 GO_function GO:0017128 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0017128 GO_process GO:0016048 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016048 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0050982 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050982 GO_process GO:0061590 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061590 GO_process GO:0061591 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061591 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0007009 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007009 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards ANO3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ANO3 GeneID 63982 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=63982 GeneTree ENSGT00760000119015 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119015 H-InvDB HIX0035914 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0035914 HGNC HGNC:14004 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:14004 HOGENOM HOG000006509 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000006509&db=HOGENOM6 HOVERGEN HBG069519 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG069519&db=HOVERGEN HPA HPA041629 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA041629 InParanoid Q9BYT9 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9BYT9 IntAct Q9BYT9 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9BYT9* InterPro IPR007632 http://www.ebi.ac.uk/interpro/entry/IPR007632 InterPro IPR031292 http://www.ebi.ac.uk/interpro/entry/IPR031292 InterPro IPR032394 http://www.ebi.ac.uk/interpro/entry/IPR032394 Jabion 63982 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=63982 KEGG_Gene hsa:63982 http://www.genome.jp/dbget-bin/www_bget?hsa:63982 MIM 610110 http://www.ncbi.nlm.nih.gov/omim/610110 MIM 615034 http://www.ncbi.nlm.nih.gov/omim/615034 OMA EICEANE http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=EICEANE Orphanet 93962 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=93962 OrthoDB EOG091G01JF http://cegg.unige.ch/orthodb/results?searchtext=EOG091G01JF PANTHER PTHR12308 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12308 PANTHER PTHR12308:SF16 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12308:SF16 PSORT swissprot:ANO3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ANO3_HUMAN PSORT-B swissprot:ANO3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ANO3_HUMAN PSORT2 swissprot:ANO3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ANO3_HUMAN Pfam PF04547 http://pfam.xfam.org/family/PF04547 Pfam PF16178 http://pfam.xfam.org/family/PF16178 PharmGKB PA25489 http://www.pharmgkb.org/do/serve?objId=PA25489&objCls=Gene Phobius swissprot:ANO3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ANO3_HUMAN PhylomeDB Q9BYT9 http://phylomedb.org/?seqid=Q9BYT9 ProteinModelPortal Q9BYT9 http://www.proteinmodelportal.org/query/uniprot/Q9BYT9 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 16554811 http://www.ncbi.nlm.nih.gov/pubmed/16554811 PubMed 21607626 http://www.ncbi.nlm.nih.gov/pubmed/21607626 PubMed 21642943 http://www.ncbi.nlm.nih.gov/pubmed/21642943 PubMed 21984732 http://www.ncbi.nlm.nih.gov/pubmed/21984732 PubMed 22302790 http://www.ncbi.nlm.nih.gov/pubmed/22302790 PubMed 23200863 http://www.ncbi.nlm.nih.gov/pubmed/23200863 Reactome R-HSA-2672351 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2672351 RefSeq NP_001300655 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001300655 RefSeq NP_001300656 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001300656 RefSeq NP_113606 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_113606 RefSeq XP_016873607 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016873607 STRING 9606.ENSP00000256737 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000256737&targetmode=cogs TCDB 1.A.17.1.20 http://www.tcdb.org/search/result.php?tc=1.A.17.1.20 UCSC uc001mqt http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001mqt&org=rat UniGene Hs.577269 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.577269 UniGene Hs.91791 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.91791 UniProtKB ANO3_HUMAN http://www.uniprot.org/uniprot/ANO3_HUMAN UniProtKB-AC Q9BYT9 http://www.uniprot.org/uniprot/Q9BYT9 charge swissprot:ANO3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ANO3_HUMAN eggNOG ENOG410XS4S http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XS4S eggNOG KOG2514 http://eggnogapi.embl.de/nog_data/html/tree/KOG2514 epestfind swissprot:ANO3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ANO3_HUMAN garnier swissprot:ANO3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ANO3_HUMAN helixturnhelix swissprot:ANO3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ANO3_HUMAN hmoment swissprot:ANO3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ANO3_HUMAN iep swissprot:ANO3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ANO3_HUMAN inforesidue swissprot:ANO3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ANO3_HUMAN neXtProt NX_Q9BYT9 http://www.nextprot.org/db/entry/NX_Q9BYT9 octanol swissprot:ANO3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ANO3_HUMAN pepcoil swissprot:ANO3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ANO3_HUMAN pepdigest swissprot:ANO3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ANO3_HUMAN pepinfo swissprot:ANO3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ANO3_HUMAN pepnet swissprot:ANO3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ANO3_HUMAN pepstats swissprot:ANO3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ANO3_HUMAN pepwheel swissprot:ANO3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ANO3_HUMAN pepwindow swissprot:ANO3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ANO3_HUMAN sigcleave swissprot:ANO3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ANO3_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS ACHA6_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q15825-1; Sequence=Displayed; Name=2; IsoId=Q15825-2; Sequence=VSP_042713; Note=No experimental confirmation available.; # CCDS CCDS56536 -. [Q15825-2] # CCDS CCDS6135 -. [Q15825-1] # DrugBank DB00184 Nicotine # DrugBank DB00674 Galantamine # DrugBank DB00898 Ethanol # DrugBank DB01273 Varenicline # DrugBank DB09028 Cytisine # Ensembl ENST00000276410 ENSP00000276410; ENSG00000147434. [Q15825-1] # Ensembl ENST00000534622 ENSP00000433871; ENSG00000147434. [Q15825-2] # ExpressionAtlas Q15825 baseline and differential # FUNCTION ACHA6_HUMAN After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005892 acetylcholine-gated channel complex; TAS:ProtInc. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0045211 postsynaptic membrane; IEA:UniProtKB-SubCell. # GO_function GO:0004889 acetylcholine-activated cation-selective channel activity; TAS:ProtInc. # GO_function GO:0015276 ligand-gated ion channel activity; TAS:Reactome. # GO_function GO:0015464 acetylcholine receptor activity; TAS:ProtInc. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0007165 signal transduction; TAS:ProtInc. # GO_process GO:0007268 chemical synaptic transmission; TAS:ProtInc. # GO_process GO:0007271 synaptic transmission, cholinergic; IBA:GO_Central. # GO_process GO:0007274 neuromuscular synaptic transmission; IBA:GO_Central. # GO_process GO:0014059 regulation of dopamine secretion; IEA:Ensembl. # GO_process GO:0035094 response to nicotine; IBA:GO_Central. # GO_process GO:0051899 membrane depolarization; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # Gene3D 1.20.120.370 -; 2. # Gene3D 2.70.170.10 -; 1. # Genevisible Q15825 HS # HGNC HGNC:15963 CHRNA6 # InterPro IPR002394 Nicotinic_acetylcholine_rcpt # InterPro IPR006029 Neurotrans-gated_channel_TM # InterPro IPR006201 Neur_channel # InterPro IPR006202 Neur_chan_lig-bd # InterPro IPR018000 Neurotransmitter_ion_chnl_CS # InterPro IPR027361 Acetylcholine_rcpt_TM # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04080 Neuroactive ligand-receptor interaction # KEGG_Pathway ko04725 Cholinergic synapse # KEGG_Pathway ko05033 Nicotine addiction # MIM 606888 gene # Organism ACHA6_HUMAN Homo sapiens (Human) # PANTHER PTHR18945 PTHR18945; 2 # PRINTS PR00252 NRIONCHANNEL # PRINTS PR00254 NICOTINICR # PROSITE PS00236 NEUROTR_ION_CHANNEL # Pfam PF02931 Neur_chan_LBD # Pfam PF02932 Neur_chan_memb # Proteomes UP000005640 Chromosome 8 # Reactome R-HSA-629594 Highly calcium permeable postsynaptic nicotinic acetylcholine receptors # Reactome R-HSA-629597 Highly calcium permeable nicotinic acetylcholine receptors # RecName ACHA6_HUMAN Neuronal acetylcholine receptor subunit alpha-6 # RefSeq NP_001186208 NM_001199279.1. [Q15825-2] # RefSeq NP_004189 NM_004198.3. [Q15825-1] # SIMILARITY Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Alpha- 6/CHRNA6 sub-subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION ACHA6_HUMAN Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. # SUBUNIT Neuronal AChR seems to be composed of two different types of subunits alpha and non-alpha (beta). # SUPFAM SSF63712 SSF63712 # SUPFAM SSF90112 SSF90112 # TIGRFAMs TIGR00860 LIC # UCSC uc003xpj human. [Q15825-1] # eggNOG ENOG410XQGR LUCA # eggNOG KOG3645 Eukaryota BLAST swissprot:ACHA6_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ACHA6_HUMAN BioCyc ZFISH:ENSG00000147434-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000147434-MONOMER COXPRESdb 8973 http://coxpresdb.jp/data/gene/8973.shtml CleanEx HS_CHRNA6 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CHRNA6 DOI 10.1007/BF02736842 http://dx.doi.org/10.1007/BF02736842 DOI 10.1038/nature04406 http://dx.doi.org/10.1038/nature04406 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DrugBank DB00184 http://www.drugbank.ca/drugs/DB00184 DrugBank DB00674 http://www.drugbank.ca/drugs/DB00674 DrugBank DB00898 http://www.drugbank.ca/drugs/DB00898 DrugBank DB01273 http://www.drugbank.ca/drugs/DB01273 DrugBank DB09028 http://www.drugbank.ca/drugs/DB09028 EMBL AB079251 http://www.ebi.ac.uk/ena/data/view/AB079251 EMBL AC087533 http://www.ebi.ac.uk/ena/data/view/AC087533 EMBL AK298798 http://www.ebi.ac.uk/ena/data/view/AK298798 EMBL AK313521 http://www.ebi.ac.uk/ena/data/view/AK313521 EMBL BC014456 http://www.ebi.ac.uk/ena/data/view/BC014456 EMBL CH471080 http://www.ebi.ac.uk/ena/data/view/CH471080 EMBL U62435 http://www.ebi.ac.uk/ena/data/view/U62435 EMBL Y16282 http://www.ebi.ac.uk/ena/data/view/Y16282 Ensembl ENST00000276410 http://www.ensembl.org/id/ENST00000276410 Ensembl ENST00000534622 http://www.ensembl.org/id/ENST00000534622 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005892 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005892 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0045211 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045211 GO_function GO:0004889 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004889 GO_function GO:0015276 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015276 GO_function GO:0015464 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015464 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GO_process GO:0007268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007268 GO_process GO:0007271 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007271 GO_process GO:0007274 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007274 GO_process GO:0014059 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014059 GO_process GO:0035094 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035094 GO_process GO:0051899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051899 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 Gene3D 1.20.120.370 http://www.cathdb.info/version/latest/superfamily/1.20.120.370 Gene3D 2.70.170.10 http://www.cathdb.info/version/latest/superfamily/2.70.170.10 GeneCards CHRNA6 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CHRNA6 GeneID 8973 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=8973 GeneTree ENSGT00760000118930 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118930 HGNC HGNC:15963 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:15963 HOGENOM HOG000006756 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000006756&db=HOGENOM6 HOVERGEN HBG003756 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG003756&db=HOVERGEN InParanoid Q15825 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q15825 IntAct Q15825 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q15825* InterPro IPR002394 http://www.ebi.ac.uk/interpro/entry/IPR002394 InterPro IPR006029 http://www.ebi.ac.uk/interpro/entry/IPR006029 InterPro IPR006201 http://www.ebi.ac.uk/interpro/entry/IPR006201 InterPro IPR006202 http://www.ebi.ac.uk/interpro/entry/IPR006202 InterPro IPR018000 http://www.ebi.ac.uk/interpro/entry/IPR018000 InterPro IPR027361 http://www.ebi.ac.uk/interpro/entry/IPR027361 Jabion 8973 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=8973 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:8973 http://www.genome.jp/dbget-bin/www_bget?hsa:8973 KEGG_Orthology KO:K04808 http://www.genome.jp/dbget-bin/www_bget?KO:K04808 KEGG_Pathway ko04080 http://www.genome.jp/kegg-bin/show_pathway?ko04080 KEGG_Pathway ko04725 http://www.genome.jp/kegg-bin/show_pathway?ko04725 KEGG_Pathway ko05033 http://www.genome.jp/kegg-bin/show_pathway?ko05033 MIM 606888 http://www.ncbi.nlm.nih.gov/omim/606888 OMA CVFTPFF http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=CVFTPFF OrthoDB EOG091G0R20 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0R20 PANTHER PTHR18945 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR18945 PRINTS PR00252 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00252 PRINTS PR00254 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00254 PROSITE PS00236 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00236 PSORT swissprot:ACHA6_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ACHA6_HUMAN PSORT-B swissprot:ACHA6_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ACHA6_HUMAN PSORT2 swissprot:ACHA6_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ACHA6_HUMAN Pfam PF02931 http://pfam.xfam.org/family/PF02931 Pfam PF02932 http://pfam.xfam.org/family/PF02932 PharmGKB PA26492 http://www.pharmgkb.org/do/serve?objId=PA26492&objCls=Gene Phobius swissprot:ACHA6_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ACHA6_HUMAN PhylomeDB Q15825 http://phylomedb.org/?seqid=Q15825 ProteinModelPortal Q15825 http://www.proteinmodelportal.org/query/uniprot/Q15825 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16421571 http://www.ncbi.nlm.nih.gov/pubmed/16421571 PubMed 8906617 http://www.ncbi.nlm.nih.gov/pubmed/8906617 Reactome R-HSA-629594 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-629594 Reactome R-HSA-629597 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-629597 RefSeq NP_001186208 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001186208 RefSeq NP_004189 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004189 STRING 9606.ENSP00000276410 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000276410&targetmode=cogs SUPFAM SSF63712 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF63712 SUPFAM SSF90112 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF90112 TIGRFAMs TIGR00860 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00860 UCSC uc003xpj http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003xpj&org=rat UniGene Hs.103128 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.103128 UniProtKB ACHA6_HUMAN http://www.uniprot.org/uniprot/ACHA6_HUMAN UniProtKB-AC Q15825 http://www.uniprot.org/uniprot/Q15825 charge swissprot:ACHA6_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ACHA6_HUMAN eggNOG ENOG410XQGR http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XQGR eggNOG KOG3645 http://eggnogapi.embl.de/nog_data/html/tree/KOG3645 epestfind swissprot:ACHA6_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ACHA6_HUMAN garnier swissprot:ACHA6_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ACHA6_HUMAN helixturnhelix swissprot:ACHA6_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ACHA6_HUMAN hmoment swissprot:ACHA6_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ACHA6_HUMAN iep swissprot:ACHA6_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ACHA6_HUMAN inforesidue swissprot:ACHA6_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ACHA6_HUMAN neXtProt NX_Q15825 http://www.nextprot.org/db/entry/NX_Q15825 octanol swissprot:ACHA6_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ACHA6_HUMAN pepcoil swissprot:ACHA6_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ACHA6_HUMAN pepdigest swissprot:ACHA6_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ACHA6_HUMAN pepinfo swissprot:ACHA6_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ACHA6_HUMAN pepnet swissprot:ACHA6_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ACHA6_HUMAN pepstats swissprot:ACHA6_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ACHA6_HUMAN pepwheel swissprot:ACHA6_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ACHA6_HUMAN pepwindow swissprot:ACHA6_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ACHA6_HUMAN sigcleave swissprot:ACHA6_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ACHA6_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS SERC3_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q13530-1; Sequence=Displayed; Name=2; IsoId=Q13530-2; Sequence=VSP_056833; Note=No experimental confirmation available.; # AltName Tumor differentially expressed protein 1 {ECO:0000303|PubMed 10559794} # BioGrid 116155 12 # CCDS CCDS13333 -. [Q13530-1] # ChiTaRS SERINC3 human # Ensembl ENST00000255175 ENSP00000255175; ENSG00000132824. [Q13530-1] # Ensembl ENST00000342374 ENSP00000340243; ENSG00000132824. [Q13530-1] # ExpressionAtlas Q13530 baseline and differential # FUNCTION SERC3_HUMAN Restriction factor required to restrict infectivity of lentiviruses, such as HIV-1 acts by inhibiting an early step of viral infection. Impairs the penetration of the viral particle into the cytoplasm (PubMed 26416733, PubMed 26416734). {ECO 0000269|PubMed 26416733, ECO 0000269|PubMed 26416734}. # GO_component GO:0000139 Golgi membrane; IEA:UniProtKB-SubCell. # GO_component GO:0005886 plasma membrane; IEA:UniProtKB-SubCell. # GO_component GO:0016021 integral component of membrane; TAS:ProtInc. # GO_component GO:0048471 perinuclear region of cytoplasm; IEA:UniProtKB-SubCell. # GO_function GO:0015194 L-serine transmembrane transporter activity; IBA:GO_Central. # GO_process GO:0006658 phosphatidylserine metabolic process; IEA:InterPro. # GO_process GO:0006665 sphingolipid metabolic process; IEA:InterPro. # GO_process GO:0009597 detection of virus; IDA:UniProtKB. # GO_process GO:0045087 innate immune response; IDA:UniProtKB. # GO_process GO:0051607 defense response to virus; IDA:UniProtKB. # GO_process GO:1902237 positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0002376 immune system process # GOslim_process GO:0006629 lipid metabolic process # GOslim_process GO:0006950 response to stress # GOslim_process GO:0008150 biological_process # GOslim_process GO:0044403 symbiosis, encompassing mutualism through parasitism # Genevisible Q13530 HS # HGNC HGNC:11699 SERINC3 # IntAct Q13530 3 # InterPro IPR005016 TDE1/TMS # InterPro IPR029557 Serinc3 # MIM 607165 gene # Organism SERC3_HUMAN Homo sapiens (Human) # PANTHER PTHR10383 PTHR10383 # PANTHER PTHR10383:SF27 PTHR10383:SF27 # PTM SERC3_HUMAN N-glycosylated. {ECO 0000250|UniProtKB Q9QZI9}. # Pfam PF03348 Serinc # Proteomes UP000005640 Chromosome 20 # Reactome R-HSA-977347 Serine biosynthesis # RecName SERC3_HUMAN Serine incorporator 3 # RefSeq NP_006802 NM_006811.3. [Q13530-1] # RefSeq NP_945179 NM_198941.2. [Q13530-1] # RefSeq XP_016883090 XM_017027601.1. [Q13530-2] # SEQUENCE CAUTION Sequence=AAB48858.1; Type=Frameshift; Positions=321, 393, 407, 459; Evidence={ECO:0000305}; Sequence=AAD34641.1; Type=Frameshift; Positions=321, 393, 407, 459; Evidence={ECO 0000305}; # SIMILARITY Belongs to the TDE1 family. {ECO 0000305}. # SUBCELLULAR LOCATION SERC3_HUMAN Cell membrane {ECO 0000250|UniProtKB Q86VE9}; Multi-pass membrane protein {ECO 0000255}. Golgi apparatus membrane {ECO 0000250|UniProtKB Q9QZI9}; Multi-pass membrane protein {ECO 0000250|UniProtKB Q9QZI9}. # SUBCELLULAR LOCATION SERC3_HUMAN Cytoplasm, perinuclear region {ECO 0000305|PubMed 26416734}. Note=(Microbial infection) Upon HIV-1 infection, it is redirected to perinuclear region following interaction with HIV-1 Nef, excluding it from virions particles, thereby preventing subsequent antiviral defense activity (Probable). {ECO 0000305|PubMed 26416734}. # TCDB 9.A.29.3 the lantibiotic immunity protein/serine connector (lip/sip) family # TISSUE SPECIFICITY Ubiquitous. Expression levels were increased fourfold to tenfold in lung tumor tissues compared with normal pulmonary tissues. {ECO:0000269|PubMed 10559794}. # UCSC uc002xme human. [Q13530-1] # eggNOG ENOG410XP7K LUCA # eggNOG KOG2592 Eukaryota BLAST swissprot:SERC3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SERC3_HUMAN BioCyc ZFISH:ENSG00000132824-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000132824-MONOMER COXPRESdb 10955 http://coxpresdb.jp/data/gene/10955.shtml CleanEx HS_SERINC3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SERINC3 DOI 10.1002/(SICI)1098-2744(199911)26:3<189::AID-MC8>3.0.CO http://dx.doi.org/10.1002/(SICI)1098-2744(199911)26:3<189::AID-MC8>3.0.CO DOI 10.1038/414865a http://dx.doi.org/10.1038/414865a DOI 10.1038/nature15399 http://dx.doi.org/10.1038/nature15399 DOI 10.1038/nature15400 http://dx.doi.org/10.1038/nature15400 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AF112227 http://www.ebi.ac.uk/ena/data/view/AF112227 EMBL AF153979 http://www.ebi.ac.uk/ena/data/view/AF153979 EMBL AK300618 http://www.ebi.ac.uk/ena/data/view/AK300618 EMBL BC006088 http://www.ebi.ac.uk/ena/data/view/BC006088 EMBL U49188 http://www.ebi.ac.uk/ena/data/view/U49188 EMBL Z97053 http://www.ebi.ac.uk/ena/data/view/Z97053 Ensembl ENST00000255175 http://www.ensembl.org/id/ENST00000255175 Ensembl ENST00000342374 http://www.ensembl.org/id/ENST00000342374 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000139 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0048471 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048471 GO_function GO:0015194 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015194 GO_process GO:0006658 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006658 GO_process GO:0006665 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006665 GO_process GO:0009597 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009597 GO_process GO:0045087 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045087 GO_process GO:0051607 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051607 GO_process GO:1902237 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902237 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0002376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002376 GOslim_process GO:0006629 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006629 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0044403 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044403 GeneCards SERINC3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SERINC3 GeneID 10955 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=10955 GeneTree ENSGT00550000074522 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074522 HGNC HGNC:11699 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11699 HOGENOM HOG000165463 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000165463&db=HOGENOM6 HOVERGEN HBG025699 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG025699&db=HOVERGEN HPA HPA043993 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA043993 HPA HPA048116 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA048116 InParanoid Q13530 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q13530 IntAct Q13530 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q13530* InterPro IPR005016 http://www.ebi.ac.uk/interpro/entry/IPR005016 InterPro IPR029557 http://www.ebi.ac.uk/interpro/entry/IPR029557 Jabion 10955 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=10955 KEGG_Gene hsa:10955 http://www.genome.jp/dbget-bin/www_bget?hsa:10955 MIM 607165 http://www.ncbi.nlm.nih.gov/omim/607165 OMA EPERNCN http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=EPERNCN OrthoDB EOG091G07WS http://cegg.unige.ch/orthodb/results?searchtext=EOG091G07WS PANTHER PTHR10383 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10383 PANTHER PTHR10383:SF27 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10383:SF27 PSORT swissprot:SERC3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SERC3_HUMAN PSORT-B swissprot:SERC3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SERC3_HUMAN PSORT2 swissprot:SERC3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SERC3_HUMAN Pfam PF03348 http://pfam.xfam.org/family/PF03348 PharmGKB PA36418 http://www.pharmgkb.org/do/serve?objId=PA36418&objCls=Gene Phobius swissprot:SERC3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SERC3_HUMAN PhylomeDB Q13530 http://phylomedb.org/?seqid=Q13530 ProteinModelPortal Q13530 http://www.proteinmodelportal.org/query/uniprot/Q13530 PubMed 10559794 http://www.ncbi.nlm.nih.gov/pubmed/10559794 PubMed 11780052 http://www.ncbi.nlm.nih.gov/pubmed/11780052 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 26416733 http://www.ncbi.nlm.nih.gov/pubmed/26416733 PubMed 26416734 http://www.ncbi.nlm.nih.gov/pubmed/26416734 Reactome R-HSA-977347 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-977347 RefSeq NP_006802 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_006802 RefSeq NP_945179 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_945179 RefSeq XP_016883090 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016883090 STRING 9606.ENSP00000255175 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000255175&targetmode=cogs TCDB 9.A.29.3 http://www.tcdb.org/search/result.php?tc=9.A.29.3 UCSC uc002xme http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002xme&org=rat UniGene Hs.272168 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.272168 UniGene Hs.696712 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.696712 UniGene Hs.744982 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.744982 UniProtKB SERC3_HUMAN http://www.uniprot.org/uniprot/SERC3_HUMAN UniProtKB-AC Q13530 http://www.uniprot.org/uniprot/Q13530 charge swissprot:SERC3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SERC3_HUMAN eggNOG ENOG410XP7K http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XP7K eggNOG KOG2592 http://eggnogapi.embl.de/nog_data/html/tree/KOG2592 epestfind swissprot:SERC3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SERC3_HUMAN garnier swissprot:SERC3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SERC3_HUMAN helixturnhelix swissprot:SERC3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SERC3_HUMAN hmoment swissprot:SERC3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SERC3_HUMAN iep swissprot:SERC3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SERC3_HUMAN inforesidue swissprot:SERC3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SERC3_HUMAN neXtProt NX_Q13530 http://www.nextprot.org/db/entry/NX_Q13530 octanol swissprot:SERC3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SERC3_HUMAN pepcoil swissprot:SERC3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SERC3_HUMAN pepdigest swissprot:SERC3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SERC3_HUMAN pepinfo swissprot:SERC3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SERC3_HUMAN pepnet swissprot:SERC3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SERC3_HUMAN pepstats swissprot:SERC3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SERC3_HUMAN pepwheel swissprot:SERC3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SERC3_HUMAN pepwindow swissprot:SERC3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SERC3_HUMAN sigcleave swissprot:SERC3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SERC3_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S36A4_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q6YBV0-1; Sequence=Displayed; Name=2; IsoId=Q6YBV0-2; Sequence=VSP_028959; Note=No experimental confirmation available.; # AltName S36A4_HUMAN Solute carrier family 36 member 4 # BIOPHYSICOCHEMICAL PROPERTIES S36A4_HUMAN Kinetic parameters KM=3.1 uM for L-proline {ECO 0000269|PubMed 21097500}; KM=1.7 uM for L-tryptophan {ECO 0000269|PubMed 21097500}; pH dependence Optimum pH is 7.4 (for proline transport). {ECO 0000269|PubMed 21097500}; # CCDS CCDS66202 -. [Q6YBV0-2] # CCDS CCDS8291 -. [Q6YBV0-1] # ChiTaRS SLC36A4 human # Ensembl ENST00000326402 ENSP00000317382; ENSG00000180773. [Q6YBV0-1] # Ensembl ENST00000529184 ENSP00000436570; ENSG00000180773. [Q6YBV0-2] # ExpressionAtlas Q6YBV0 baseline and differential # FUNCTION S36A4_HUMAN Functions as a sodium-independent electroneutral transporter for tryptophan, proline and alanine. Inhibited by sarcosine. {ECO 0000269|PubMed 21097500}. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0015180 L-alanine transmembrane transporter activity; IDA:WormBase. # GO_function GO:0015193 L-proline transmembrane transporter activity; IDA:WormBase. # GO_function GO:0015196 L-tryptophan transmembrane transporter activity; IDA:WormBase. # GO_function GO:0015293 symporter activity; IEA:UniProtKB-KW. # GO_process GO:0015808 L-alanine transport; IDA:UniProtKB. # GO_process GO:0015824 proline transport; IDA:UniProtKB. # GO_process GO:0015827 tryptophan transport; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # Genevisible Q6YBV0 HS # HGNC HGNC:19660 SLC36A4 # InterPro IPR013057 AA_transpt_TM # KEGG_Brite ko02001 Solute carrier family # MIM 613760 gene # Organism S36A4_HUMAN Homo sapiens (Human) # Pfam PF01490 Aa_trans # Proteomes UP000005640 Chromosome 11 # RecName S36A4_HUMAN Proton-coupled amino acid transporter 4 # RefSeq NP_001273068 NM_001286139.1. [Q6YBV0-2] # RefSeq NP_689526 NM_152313.3. [Q6YBV0-1] # RefSeq XP_016872665 XM_017017176.1. [Q6YBV0-2] # SEQUENCE CAUTION Sequence=CAC82496.1; Type=Frameshift; Positions=358, 361, 363, 366, 370, 373, 376, 387, 396, 458, 487; Evidence={ECO 0000305}; # SIMILARITY Belongs to the amino acid/polyamine transporter 2 family. {ECO 0000305}. # SUBCELLULAR LOCATION S36A4_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # TCDB 2.A.18.8 the amino acid/auxin permease (aaap) family # UCSC uc001pdl human. [Q6YBV0-1] # eggNOG COG0814 LUCA # eggNOG KOG1304 Eukaryota BLAST swissprot:S36A4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S36A4_HUMAN COXPRESdb 120103 http://coxpresdb.jp/data/gene/120103.shtml CleanEx HS_SLC36A4 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC36A4 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.1210303109 http://dx.doi.org/10.1073/pnas.1210303109 DOI 10.1074/jbc.M110.172403 http://dx.doi.org/10.1074/jbc.M110.172403 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AJ295983 http://www.ebi.ac.uk/ena/data/view/AJ295983 EMBL AK096251 http://www.ebi.ac.uk/ena/data/view/AK096251 EMBL AY162216 http://www.ebi.ac.uk/ena/data/view/AY162216 EMBL BC047374 http://www.ebi.ac.uk/ena/data/view/BC047374 Ensembl ENST00000326402 http://www.ensembl.org/id/ENST00000326402 Ensembl ENST00000529184 http://www.ensembl.org/id/ENST00000529184 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0015180 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015180 GO_function GO:0015193 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015193 GO_function GO:0015196 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015196 GO_function GO:0015293 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015293 GO_process GO:0015808 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015808 GO_process GO:0015824 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015824 GO_process GO:0015827 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015827 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GeneCards SLC36A4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC36A4 GeneID 120103 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=120103 GeneTree ENSGT00390000011245 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000011245 HGNC HGNC:19660 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:19660 HOGENOM HOG000006823 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000006823&db=HOGENOM6 HOVERGEN HBG057183 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG057183&db=HOVERGEN HPA HPA017887 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA017887 InParanoid Q6YBV0 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q6YBV0 IntAct Q6YBV0 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q6YBV0* InterPro IPR013057 http://www.ebi.ac.uk/interpro/entry/IPR013057 Jabion 120103 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=120103 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:120103 http://www.genome.jp/dbget-bin/www_bget?hsa:120103 KEGG_Orthology KO:K14209 http://www.genome.jp/dbget-bin/www_bget?KO:K14209 MIM 613760 http://www.ncbi.nlm.nih.gov/omim/613760 OMA ILTFSKE http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=ILTFSKE OrthoDB EOG091G079T http://cegg.unige.ch/orthodb/results?searchtext=EOG091G079T PSORT swissprot:S36A4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S36A4_HUMAN PSORT-B swissprot:S36A4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S36A4_HUMAN PSORT2 swissprot:S36A4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S36A4_HUMAN Pfam PF01490 http://pfam.xfam.org/family/PF01490 PharmGKB PA134908925 http://www.pharmgkb.org/do/serve?objId=PA134908925&objCls=Gene Phobius swissprot:S36A4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S36A4_HUMAN PhylomeDB Q6YBV0 http://phylomedb.org/?seqid=Q6YBV0 ProteinModelPortal Q6YBV0 http://www.proteinmodelportal.org/query/uniprot/Q6YBV0 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 21097500 http://www.ncbi.nlm.nih.gov/pubmed/21097500 PubMed 22814378 http://www.ncbi.nlm.nih.gov/pubmed/22814378 RefSeq NP_001273068 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001273068 RefSeq NP_689526 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_689526 RefSeq XP_016872665 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016872665 STRING 9606.ENSP00000317382 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000317382&targetmode=cogs TCDB 2.A.18.8 http://www.tcdb.org/search/result.php?tc=2.A.18.8 UCSC uc001pdl http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001pdl&org=rat UniGene Hs.148766 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.148766 UniGene Hs.596383 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.596383 UniProtKB S36A4_HUMAN http://www.uniprot.org/uniprot/S36A4_HUMAN UniProtKB-AC Q6YBV0 http://www.uniprot.org/uniprot/Q6YBV0 charge swissprot:S36A4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S36A4_HUMAN eggNOG COG0814 http://eggnogapi.embl.de/nog_data/html/tree/COG0814 eggNOG KOG1304 http://eggnogapi.embl.de/nog_data/html/tree/KOG1304 epestfind swissprot:S36A4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S36A4_HUMAN garnier swissprot:S36A4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S36A4_HUMAN helixturnhelix swissprot:S36A4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S36A4_HUMAN hmoment swissprot:S36A4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S36A4_HUMAN iep swissprot:S36A4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S36A4_HUMAN inforesidue swissprot:S36A4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S36A4_HUMAN neXtProt NX_Q6YBV0 http://www.nextprot.org/db/entry/NX_Q6YBV0 octanol swissprot:S36A4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S36A4_HUMAN pepcoil swissprot:S36A4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S36A4_HUMAN pepdigest swissprot:S36A4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S36A4_HUMAN pepinfo swissprot:S36A4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S36A4_HUMAN pepnet swissprot:S36A4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S36A4_HUMAN pepstats swissprot:S36A4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S36A4_HUMAN pepwheel swissprot:S36A4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S36A4_HUMAN pepwindow swissprot:S36A4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S36A4_HUMAN sigcleave swissprot:S36A4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S36A4_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS SATT_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P43007-1; Sequence=Displayed; Name=2; IsoId=P43007-2; Sequence=VSP_042880, VSP_042881; Note=No experimental confirmation available.; # AltName SATT_HUMAN Alanine/serine/cysteine/threonine transporter 1 # AltName SATT_HUMAN SATT # AltName SATT_HUMAN Solute carrier family 1 member 4 # BioGrid 112400 5 # CCDS CCDS1879 -. [P43007-1] # CCDS CCDS54362 -. [P43007-2] # ChiTaRS SLC1A4 human # DISEASE SATT_HUMAN Spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SPATCCM) [MIM 616657] A neurodevelopmental disorder characterized by thin corpus callosum, severe progressive microcephaly, severe intellectual disability, seizures, spasticity, and global developmental delay. Most patients are unable to achieve independent walking or speech. {ECO 0000269|PubMed 25930971, ECO 0000269|PubMed 26041762, ECO 0000269|PubMed 26138499}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DrugBank DB00160 L-Alanine # Ensembl ENST00000234256 ENSP00000234256; ENSG00000115902. [P43007-1] # Ensembl ENST00000531327 ENSP00000431942; ENSG00000115902. [P43007-2] # FUNCTION SATT_HUMAN Transporter for alanine, serine, cysteine, and threonine. Exhibits sodium dependence. {ECO 0000269|PubMed 26041762}. # GO_component GO:0005813 centrosome; IDA:HPA. # GO_component GO:0005815 microtubule organizing center; IDA:HPA. # GO_component GO:0005882 intermediate filament; ISS:UniProtKB. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IC:UniProtKB. # GO_component GO:0009986 cell surface; IDA:UniProtKB. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; NAS:UniProtKB. # GO_component GO:0030425 dendrite; IEA:Ensembl. # GO_component GO:0042470 melanosome; IEA:UniProtKB-SubCell. # GO_component GO:0043025 neuronal cell body; IEA:Ensembl. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0005254 chloride channel activity; IDA:UniProtKB. # GO_function GO:0015171 amino acid transmembrane transporter activity; TAS:Reactome. # GO_function GO:0015180 L-alanine transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0015184 L-cystine transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0015186 L-glutamine transmembrane transporter activity; TAS:BHF-UCL. # GO_function GO:0015193 L-proline transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0015194 L-serine transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0015195 L-threonine transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0015293 symporter activity; IEA:UniProtKB-KW. # GO_function GO:0034590 L-hydroxyproline transmembrane transporter activity; IDA:UniProtKB. # GO_process GO:0006865 amino acid transport; TAS:Reactome. # GO_process GO:0006868 glutamine transport; TAS:BHF-UCL. # GO_process GO:0015808 L-alanine transport; IDA:UniProtKB. # GO_process GO:0015811 L-cystine transport; IDA:UniProtKB. # GO_process GO:0015824 proline transport; IDA:UniProtKB. # GO_process GO:0015825 L-serine transport; IDA:UniProtKB. # GO_process GO:0015826 threonine transport; IDA:UniProtKB. # GO_process GO:0034589 hydroxyproline transport; IDA:UniProtKB. # GO_process GO:0035249 synaptic transmission, glutamatergic; NAS:UniProtKB. # GO_process GO:0050890 cognition; IMP:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005815 microtubule organizing center # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0031410 cytoplasmic vesicle # GOslim_component GO:0043226 organelle # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0050877 neurological system process # Gene3D 1.10.3860.10 -; 2. # Genevisible P43007 HS # HGNC HGNC:10942 SLC1A4 # InterPro IPR001991 Na-dicarboxylate_symporter # InterPro IPR018107 Na-dicarboxylate_symporter_CS # KEGG_Brite ko02001 Solute carrier family # MIM 600229 gene # MIM 616657 phenotype # Organism SATT_HUMAN Homo sapiens (Human) # PANTHER PTHR11958 PTHR11958 # PIR I37188 I37188 # PIR I55389 I55389 # PRINTS PR00173 EDTRNSPORT # PROSITE PS00713 NA_DICARBOXYL_SYMP_1 # PROSITE PS00714 NA_DICARBOXYL_SYMP_2 # Pfam PF00375 SDF # Proteomes UP000005640 Chromosome 2 # Reactome R-HSA-352230 Amino acid transport across the plasma membrane # RecName SATT_HUMAN Neutral amino acid transporter A # RefSeq NP_001180422 NM_001193493.1. [P43007-2] # RefSeq NP_003029 NM_003038.4. [P43007-1] # SIMILARITY Belongs to the dicarboxylate/amino acid:cation symporter (DAACS) (TC 2.A.23) family. SLC1A4 subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION SATT_HUMAN Membrane {ECO 0000269|PubMed 17081065}; Multi-pass membrane protein {ECO 0000269|PubMed 17081065}. Melanosome {ECO 0000269|PubMed 17081065}. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. # SUPFAM SSF118215 SSF118215; 2 # TCDB 2.A.23.3:the dicarboxylate/amino acid cation (na(+) or h(+)) symporter (daacs) family # TISSUE SPECIFICITY SATT_HUMAN Expressed mostly in brain, muscle, and pancreas but detected in all tissues examined. # UCSC uc010ypz human. [P43007-1] # eggNOG COG1301 LUCA # eggNOG KOG3787 Eukaryota BLAST swissprot:SATT_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SATT_HUMAN BioCyc ZFISH:ENSG00000115902-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000115902-MONOMER COXPRESdb 6509 http://coxpresdb.jp/data/gene/6509.shtml CleanEx HS_SLC1A4 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC1A4 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1006/geno.1994.1577 http://dx.doi.org/10.1006/geno.1994.1577 DOI 10.1021/pr060363j http://dx.doi.org/10.1021/pr060363j DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1038/nbt.1532 http://dx.doi.org/10.1038/nbt.1532 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1073/pnas.1210303109 http://dx.doi.org/10.1073/pnas.1210303109 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/cge.12605 http://dx.doi.org/10.1111/cge.12605 DOI 10.1111/cge.12637 http://dx.doi.org/10.1111/cge.12637 DOI 10.1126/scisignal.2000007 http://dx.doi.org/10.1126/scisignal.2000007 DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 DOI 10.1136/jmedgenet-2015-103104 http://dx.doi.org/10.1136/jmedgenet-2015-103104 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DrugBank DB00160 http://www.drugbank.ca/drugs/DB00160 EMBL AC007386 http://www.ebi.ac.uk/ena/data/view/AC007386 EMBL AK295687 http://www.ebi.ac.uk/ena/data/view/AK295687 EMBL BC026216 http://www.ebi.ac.uk/ena/data/view/BC026216 EMBL BC072423 http://www.ebi.ac.uk/ena/data/view/BC072423 EMBL CH471053 http://www.ebi.ac.uk/ena/data/view/CH471053 EMBL CH471053 http://www.ebi.ac.uk/ena/data/view/CH471053 EMBL L14595 http://www.ebi.ac.uk/ena/data/view/L14595 EMBL L19444 http://www.ebi.ac.uk/ena/data/view/L19444 EMBL U05229 http://www.ebi.ac.uk/ena/data/view/U05229 EMBL U05230 http://www.ebi.ac.uk/ena/data/view/U05230 EMBL U05231 http://www.ebi.ac.uk/ena/data/view/U05231 EMBL U05232 http://www.ebi.ac.uk/ena/data/view/U05232 EMBL U05233 http://www.ebi.ac.uk/ena/data/view/U05233 EMBL U05234 http://www.ebi.ac.uk/ena/data/view/U05234 EMBL U05235 http://www.ebi.ac.uk/ena/data/view/U05235 Ensembl ENST00000234256 http://www.ensembl.org/id/ENST00000234256 Ensembl ENST00000531327 http://www.ensembl.org/id/ENST00000531327 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005813 GO_component GO:0005815 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005815 GO_component GO:0005882 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005882 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0009986 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009986 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0030425 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030425 GO_component GO:0042470 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042470 GO_component GO:0043025 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043025 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0005254 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005254 GO_function GO:0015171 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015171 GO_function GO:0015180 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015180 GO_function GO:0015184 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015184 GO_function GO:0015186 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015186 GO_function GO:0015193 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015193 GO_function GO:0015194 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015194 GO_function GO:0015195 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015195 GO_function GO:0015293 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015293 GO_function GO:0034590 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034590 GO_process GO:0006865 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006865 GO_process GO:0006868 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006868 GO_process GO:0015808 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015808 GO_process GO:0015811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015811 GO_process GO:0015824 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015824 GO_process GO:0015825 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015825 GO_process GO:0015826 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015826 GO_process GO:0034589 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034589 GO_process GO:0035249 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035249 GO_process GO:0050890 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050890 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005815 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005815 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0031410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 Gene3D 1.10.3860.10 http://www.cathdb.info/version/latest/superfamily/1.10.3860.10 GeneCards SLC1A4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC1A4 GeneID 6509 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6509 GeneTree ENSGT00760000119117 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119117 HGNC HGNC:10942 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10942 HOGENOM HOG000208776 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000208776&db=HOGENOM6 HOVERGEN HBG000080 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG000080&db=HOVERGEN HPA HPA034963 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA034963 HPA HPA034964 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA034964 InParanoid P43007 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P43007 IntAct P43007 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P43007* InterPro IPR001991 http://www.ebi.ac.uk/interpro/entry/IPR001991 InterPro IPR018107 http://www.ebi.ac.uk/interpro/entry/IPR018107 Jabion 6509 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6509 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:6509 http://www.genome.jp/dbget-bin/www_bget?hsa:6509 KEGG_Orthology KO:K05615 http://www.genome.jp/dbget-bin/www_bget?KO:K05615 MIM 600229 http://www.ncbi.nlm.nih.gov/omim/600229 MIM 616657 http://www.ncbi.nlm.nih.gov/omim/616657 MINT MINT-4656683 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-4656683 OMA CMAAVFI http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=CMAAVFI OrthoDB EOG091G0UCE http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0UCE PANTHER PTHR11958 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11958 PRINTS PR00173 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00173 PROSITE PS00713 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00713 PROSITE PS00714 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00714 PSORT swissprot:SATT_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SATT_HUMAN PSORT-B swissprot:SATT_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SATT_HUMAN PSORT2 swissprot:SATT_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SATT_HUMAN Pfam PF00375 http://pfam.xfam.org/family/PF00375 PharmGKB PA35829 http://www.pharmgkb.org/do/serve?objId=PA35829&objCls=Gene Phobius swissprot:SATT_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SATT_HUMAN PhylomeDB P43007 http://phylomedb.org/?seqid=P43007 ProteinModelPortal P43007 http://www.proteinmodelportal.org/query/uniprot/P43007 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 PubMed 17081065 http://www.ncbi.nlm.nih.gov/pubmed/17081065 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 19349973 http://www.ncbi.nlm.nih.gov/pubmed/19349973 PubMed 19690332 http://www.ncbi.nlm.nih.gov/pubmed/19690332 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 22814378 http://www.ncbi.nlm.nih.gov/pubmed/22814378 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 25930971 http://www.ncbi.nlm.nih.gov/pubmed/25930971 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 26041762 http://www.ncbi.nlm.nih.gov/pubmed/26041762 PubMed 26138499 http://www.ncbi.nlm.nih.gov/pubmed/26138499 PubMed 7896285 http://www.ncbi.nlm.nih.gov/pubmed/7896285 PubMed 8101838 http://www.ncbi.nlm.nih.gov/pubmed/8101838 PubMed 8340364 http://www.ncbi.nlm.nih.gov/pubmed/8340364 Reactome R-HSA-352230 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-352230 RefSeq NP_001180422 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001180422 RefSeq NP_003029 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_003029 STRING 9606.ENSP00000234256 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000234256&targetmode=cogs SUPFAM SSF118215 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF118215 TCDB 2.A.23.3 http://www.tcdb.org/search/result.php?tc=2.A.23.3 UCSC uc010ypz http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc010ypz&org=rat UniGene Hs.654352 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.654352 UniProtKB SATT_HUMAN http://www.uniprot.org/uniprot/SATT_HUMAN UniProtKB-AC P43007 http://www.uniprot.org/uniprot/P43007 charge swissprot:SATT_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SATT_HUMAN eggNOG COG1301 http://eggnogapi.embl.de/nog_data/html/tree/COG1301 eggNOG KOG3787 http://eggnogapi.embl.de/nog_data/html/tree/KOG3787 epestfind swissprot:SATT_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SATT_HUMAN garnier swissprot:SATT_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SATT_HUMAN helixturnhelix swissprot:SATT_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SATT_HUMAN hmoment swissprot:SATT_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SATT_HUMAN iep swissprot:SATT_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SATT_HUMAN inforesidue swissprot:SATT_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SATT_HUMAN neXtProt NX_P43007 http://www.nextprot.org/db/entry/NX_P43007 octanol swissprot:SATT_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SATT_HUMAN pepcoil swissprot:SATT_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SATT_HUMAN pepdigest swissprot:SATT_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SATT_HUMAN pepinfo swissprot:SATT_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SATT_HUMAN pepnet swissprot:SATT_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SATT_HUMAN pepstats swissprot:SATT_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SATT_HUMAN pepwheel swissprot:SATT_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SATT_HUMAN pepwindow swissprot:SATT_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SATT_HUMAN sigcleave swissprot:SATT_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SATT_HUMAN ## Database ID URL or Descriptions # AltName S22AE_HUMAN Organic cation transporter-like 4 # CDD cd06174 MFS # Ensembl ENST00000273173 ENSP00000273173; ENSG00000144671 # Ensembl ENST00000448498 ENSP00000396283; ENSG00000144671 # ExpressionAtlas Q9Y267 baseline and differential # GO_component GO:0005887 integral component of plasma membrane; NAS:UniProtKB. # GO_function GO:0015101 organic cation transmembrane transporter activity; NAS:UniProtKB. # GO_function GO:0022891 substrate-specific transmembrane transporter activity; IBA:GO_Central. # GO_process GO:0015695 organic cation transport; NAS:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # Genevisible Q9Y267 HS # HGNC HGNC:8495 SLC22A14 # InterPro IPR005828 MFS_sugar_transport-like # InterPro IPR020846 MFS_dom # KEGG_Brite ko02000 Transporters # KEGG_Brite ko02001 Solute carrier family # MIM 604048 gene # Organism S22AE_HUMAN Homo sapiens (Human) # PROSITE PS50850 MFS # Pfam PF00083 Sugar_tr # Proteomes UP000005640 Chromosome 3 # RecName S22AE_HUMAN Solute carrier family 22 member 14 # RefSeq NP_001306962 NM_001320033.1 # RefSeq NP_004794 NM_004803.4 # RefSeq XP_005265642 XM_005265585.4 # RefSeq XP_011532547 XM_011534245.2 # SIMILARITY Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family. {ECO 0000305}. # SUBCELLULAR LOCATION S22AE_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # SUPFAM SSF103473 SSF103473 # TCDB 2.A.1.19.22 the major facilitator superfamily (mfs) # TISSUE SPECIFICITY Ubiquitous. {ECO:0000269|PubMed 10072596}. # UCSC uc003cib human # eggNOG ENOG410IRHZ Eukaryota # eggNOG ENOG410XQIT LUCA BLAST swissprot:S22AE_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S22AE_HUMAN BioCyc ZFISH:ENSG00000144671-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000144671-MONOMER COXPRESdb 9389 http://coxpresdb.jp/data/gene/9389.shtml CleanEx HS_SLC22A14 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC22A14 DOI 10.1038/nature04728 http://dx.doi.org/10.1038/nature04728 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1093/dnares/6.1.37 http://dx.doi.org/10.1093/dnares/6.1.37 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AB011082 http://www.ebi.ac.uk/ena/data/view/AB011082 EMBL AB026898 http://www.ebi.ac.uk/ena/data/view/AB026898 EMBL AK315317 http://www.ebi.ac.uk/ena/data/view/AK315317 EMBL AP006193 http://www.ebi.ac.uk/ena/data/view/AP006193 EMBL BC075070 http://www.ebi.ac.uk/ena/data/view/BC075070 EMBL BC075071 http://www.ebi.ac.uk/ena/data/view/BC075071 EMBL BC126482 http://www.ebi.ac.uk/ena/data/view/BC126482 EMBL BC130543 http://www.ebi.ac.uk/ena/data/view/BC130543 EMBL CH471055 http://www.ebi.ac.uk/ena/data/view/CH471055 Ensembl ENST00000273173 http://www.ensembl.org/id/ENST00000273173 Ensembl ENST00000448498 http://www.ensembl.org/id/ENST00000448498 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0015101 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015101 GO_function GO:0022891 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022891 GO_process GO:0015695 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015695 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GeneCards SLC22A14 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC22A14 GeneID 9389 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=9389 GeneTree ENSGT00860000133730 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00860000133730 H-InvDB HIX0024265 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0024265 HGNC HGNC:8495 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:8495 HOGENOM HOG000234569 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000234569&db=HOGENOM6 HOVERGEN HBG108434 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG108434&db=HOVERGEN HPA HPA037556 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA037556 InParanoid Q9Y267 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9Y267 InterPro IPR005828 http://www.ebi.ac.uk/interpro/entry/IPR005828 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 9389 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=9389 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:9389 http://www.genome.jp/dbget-bin/www_bget?hsa:9389 KEGG_Orthology KO:K08210 http://www.genome.jp/dbget-bin/www_bget?KO:K08210 MIM 604048 http://www.ncbi.nlm.nih.gov/omim/604048 OMA SAFFMFA http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=SAFFMFA OrthoDB EOG091G07EF http://cegg.unige.ch/orthodb/results?searchtext=EOG091G07EF PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PSORT swissprot:S22AE_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S22AE_HUMAN PSORT-B swissprot:S22AE_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S22AE_HUMAN PSORT2 swissprot:S22AE_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S22AE_HUMAN Pfam PF00083 http://pfam.xfam.org/family/PF00083 PharmGKB PA32815 http://www.pharmgkb.org/do/serve?objId=PA32815&objCls=Gene Phobius swissprot:S22AE_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S22AE_HUMAN PhylomeDB Q9Y267 http://phylomedb.org/?seqid=Q9Y267 ProteinModelPortal Q9Y267 http://www.proteinmodelportal.org/query/uniprot/Q9Y267 PubMed 10072596 http://www.ncbi.nlm.nih.gov/pubmed/10072596 PubMed 10231028 http://www.ncbi.nlm.nih.gov/pubmed/10231028 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16641997 http://www.ncbi.nlm.nih.gov/pubmed/16641997 RefSeq NP_001306962 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001306962 RefSeq NP_004794 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004794 RefSeq XP_005265642 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005265642 RefSeq XP_011532547 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011532547 STRING 9606.ENSP00000273173 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000273173&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.1.19.22 http://www.tcdb.org/search/result.php?tc=2.A.1.19.22 UCSC uc003cib http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003cib&org=rat UniGene Hs.165559 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.165559 UniProtKB S22AE_HUMAN http://www.uniprot.org/uniprot/S22AE_HUMAN UniProtKB-AC Q9Y267 http://www.uniprot.org/uniprot/Q9Y267 charge swissprot:S22AE_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S22AE_HUMAN eggNOG ENOG410IRHZ http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IRHZ eggNOG ENOG410XQIT http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XQIT epestfind swissprot:S22AE_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S22AE_HUMAN garnier swissprot:S22AE_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S22AE_HUMAN helixturnhelix swissprot:S22AE_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S22AE_HUMAN hmoment swissprot:S22AE_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S22AE_HUMAN iep swissprot:S22AE_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S22AE_HUMAN inforesidue swissprot:S22AE_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S22AE_HUMAN neXtProt NX_Q9Y267 http://www.nextprot.org/db/entry/NX_Q9Y267 octanol swissprot:S22AE_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S22AE_HUMAN pepcoil swissprot:S22AE_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S22AE_HUMAN pepdigest swissprot:S22AE_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S22AE_HUMAN pepinfo swissprot:S22AE_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S22AE_HUMAN pepnet swissprot:S22AE_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S22AE_HUMAN pepstats swissprot:S22AE_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S22AE_HUMAN pepwheel swissprot:S22AE_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S22AE_HUMAN pepwindow swissprot:S22AE_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S22AE_HUMAN sigcleave swissprot:S22AE_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S22AE_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S12A8_HUMAN Event=Alternative splicing; Named isoforms=5; Name=1; IsoId=A0AV02-1; Sequence=Displayed; Name=2; IsoId=A0AV02-2; Sequence=VSP_028330; Note=No experimental confirmation available.; Name=3; IsoId=A0AV02-3; Sequence=VSP_028329, VSP_028331; Note=No experimental confirmation available.; Name=4; IsoId=A0AV02-4; Sequence=VSP_028328, VSP_028332; Note=No experimental confirmation available.; Name=5; IsoId=A0AV02-5; Sequence=VSP_028327; Note=No experimental confirmation available.; # AltName S12A8_HUMAN Cation-chloride cotransporter 9 # CCDS CCDS43143 -. [A0AV02-1] # ChiTaRS SLC12A8 human # DISEASE S12A8_HUMAN Note=SLC12A8 has been identified as a possible susceptibility gene for psoriasis mapped to chromosome 3q21 (PSORS5). # Ensembl ENST00000393469 ENSP00000377112; ENSG00000221955. [A0AV02-1] # Ensembl ENST00000430155 ENSP00000415713; ENSG00000221955. [A0AV02-3] # Ensembl ENST00000469902 ENSP00000418783; ENSG00000221955. [A0AV02-1] # ExpressionAtlas A0AV02 baseline and differential # FUNCTION S12A8_HUMAN Cation/chloride cotransporter that may play a role in the control of keratinocyte proliferation. {ECO 0000269|PubMed 11863360}. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0015293 symporter activity; IEA:UniProtKB-KW. # GO_process GO:0006813 potassium ion transport; IEA:UniProtKB-KW. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # Genevisible A0AV02 HS # HGNC HGNC:15595 SLC12A8 # IntAct A0AV02 2 # InterPro IPR004841 AA-permease/SLC12A_dom # KEGG_Brite ko02001 Solute carrier family # MIM 611316 gene # Organism S12A8_HUMAN Homo sapiens (Human) # Pfam PF00324 AA_permease # Proteomes UP000005640 Chromosome 3 # RecName S12A8_HUMAN Solute carrier family 12 member 8 # RefSeq NP_001182412 NM_001195483.1 # RefSeq NP_078904 NM_024628.5 # SEQUENCE CAUTION S12A8_HUMAN Sequence=AAH20506.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; Sequence=AAH63528.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; Sequence=AAH63528.1; Type=Frameshift; Positions=569; Evidence={ECO 0000305}; Sequence=AAK94307.1; Type=Erroneous gene model prediction; Evidence={ECO 0000305}; Sequence=AAM73657.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO 0000305}; Sequence=CAD97969.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the SLC12A transporter family. {ECO 0000305}. # SUBCELLULAR LOCATION S12A8_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # TCDB 2.A.30.3 the cation-chloride cotransporter (ccc) family # TISSUE SPECIFICITY Ubiquitous with very low level in normal skin. {ECO:0000269|PubMed 11863360}. # TopDownProteomics A0AV02-3 -. [A0AV02-3] # TopDownProteomics A0AV02-5 -. [A0AV02-5] # UCSC uc003eht human. [A0AV02-1] # eggNOG COG0531 LUCA # eggNOG KOG2083 Eukaryota BLAST swissprot:S12A8_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S12A8_HUMAN BioCyc ZFISH:G66-32932-MONOMER http://biocyc.org/getid?id=ZFISH:G66-32932-MONOMER COXPRESdb 84561 http://coxpresdb.jp/data/gene/84561.shtml DOI 10.1006/geno.2002.6720 http://dx.doi.org/10.1006/geno.2002.6720 DOI 10.1038/nature04728 http://dx.doi.org/10.1038/nature04728 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.0022-202X.2005.23847.x http://dx.doi.org/10.1111/j.0022-202X.2005.23847.x DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 EMBL AC055752 http://www.ebi.ac.uk/ena/data/view/AC055752 EMBL AC108688 http://www.ebi.ac.uk/ena/data/view/AC108688 EMBL AC117488 http://www.ebi.ac.uk/ena/data/view/AC117488 EMBL AF345197 http://www.ebi.ac.uk/ena/data/view/AF345197 EMBL AF389851 http://www.ebi.ac.uk/ena/data/view/AF389851 EMBL AF390442 http://www.ebi.ac.uk/ena/data/view/AF390442 EMBL AK026841 http://www.ebi.ac.uk/ena/data/view/AK026841 EMBL BC020506 http://www.ebi.ac.uk/ena/data/view/BC020506 EMBL BC063528 http://www.ebi.ac.uk/ena/data/view/BC063528 EMBL BC126158 http://www.ebi.ac.uk/ena/data/view/BC126158 EMBL BC126160 http://www.ebi.ac.uk/ena/data/view/BC126160 EMBL BX538023 http://www.ebi.ac.uk/ena/data/view/BX538023 EMBL CR457363 http://www.ebi.ac.uk/ena/data/view/CR457363 EMBL CR749632 http://www.ebi.ac.uk/ena/data/view/CR749632 Ensembl ENST00000393469 http://www.ensembl.org/id/ENST00000393469 Ensembl ENST00000430155 http://www.ensembl.org/id/ENST00000430155 Ensembl ENST00000469902 http://www.ensembl.org/id/ENST00000469902 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0015293 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015293 GO_process GO:0006813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006813 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GeneCards SLC12A8 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC12A8 GeneID 84561 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=84561 GeneTree ENSGT00760000119053 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119053 HGNC HGNC:15595 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:15595 HOVERGEN HBG108430 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG108430&db=HOVERGEN HPA HPA031123 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA031123 InParanoid A0AV02 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=A0AV02 IntAct A0AV02 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=A0AV02* InterPro IPR004841 http://www.ebi.ac.uk/interpro/entry/IPR004841 Jabion 84561 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=84561 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:84561 http://www.genome.jp/dbget-bin/www_bget?hsa:84561 KEGG_Orthology KO:K14428 http://www.genome.jp/dbget-bin/www_bget?KO:K14428 MIM 611316 http://www.ncbi.nlm.nih.gov/omim/611316 OMA TKNWYSG http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=TKNWYSG OrthoDB EOG091G02VO http://cegg.unige.ch/orthodb/results?searchtext=EOG091G02VO PSORT swissprot:S12A8_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S12A8_HUMAN PSORT-B swissprot:S12A8_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S12A8_HUMAN PSORT2 swissprot:S12A8_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S12A8_HUMAN Pfam PF00324 http://pfam.xfam.org/family/PF00324 PharmGKB PA37991 http://www.pharmgkb.org/do/serve?objId=PA37991&objCls=Gene Phobius swissprot:S12A8_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S12A8_HUMAN ProteinModelPortal A0AV02 http://www.proteinmodelportal.org/query/uniprot/A0AV02 PubMed 11863360 http://www.ncbi.nlm.nih.gov/pubmed/11863360 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16297188 http://www.ncbi.nlm.nih.gov/pubmed/16297188 PubMed 16641997 http://www.ncbi.nlm.nih.gov/pubmed/16641997 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 RefSeq NP_001182412 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001182412 RefSeq NP_078904 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_078904 STRING 9606.ENSP00000377112 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000377112&targetmode=cogs TCDB 2.A.30.3 http://www.tcdb.org/search/result.php?tc=2.A.30.3 UCSC uc003eht http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003eht&org=rat UniGene Hs.658514 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.658514 UniProtKB S12A8_HUMAN http://www.uniprot.org/uniprot/S12A8_HUMAN UniProtKB-AC A0AV02 http://www.uniprot.org/uniprot/A0AV02 charge swissprot:S12A8_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S12A8_HUMAN eggNOG COG0531 http://eggnogapi.embl.de/nog_data/html/tree/COG0531 eggNOG KOG2083 http://eggnogapi.embl.de/nog_data/html/tree/KOG2083 epestfind swissprot:S12A8_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S12A8_HUMAN garnier swissprot:S12A8_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S12A8_HUMAN helixturnhelix swissprot:S12A8_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S12A8_HUMAN hmoment swissprot:S12A8_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S12A8_HUMAN iep swissprot:S12A8_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S12A8_HUMAN inforesidue swissprot:S12A8_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S12A8_HUMAN neXtProt NX_A0AV02 http://www.nextprot.org/db/entry/NX_A0AV02 octanol swissprot:S12A8_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S12A8_HUMAN pepcoil swissprot:S12A8_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S12A8_HUMAN pepdigest swissprot:S12A8_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S12A8_HUMAN pepinfo swissprot:S12A8_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S12A8_HUMAN pepnet swissprot:S12A8_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S12A8_HUMAN pepstats swissprot:S12A8_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S12A8_HUMAN pepwheel swissprot:S12A8_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S12A8_HUMAN pepwindow swissprot:S12A8_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S12A8_HUMAN sigcleave swissprot:S12A8_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S12A8_HUMAN ## Database ID URL or Descriptions # AltName ANO5_HUMAN Gnathodiaphyseal dysplasia 1 protein # AltName ANO5_HUMAN Transmembrane protein 16E # BioGrid 128482 2 # ChiTaRS ANO5 human # DISEASE ANO5_HUMAN Gnathodiaphyseal dysplasia (GDD) [MIM 166260] Rare skeletal syndrome characterized by bone fragility, sclerosis of tubular bones, and cemento-osseous lesions of the jawbone. Patients experience frequent bone fractures caused by trivial accidents in childhood; however the fractures heal normally without bone deformity. The jaw lesions replace the tooth-bearing segments of the maxilla and mandible with fibrous connective tissues, including various amounts of cementum-like calcified mass, sometimes causing facial deformities. Patients also have a propensity for jaw infection and often suffer from purulent osteomyelitis-like symptoms, such as swelling of and pus discharge from the gums, mobility of the teeth, insufficient healing after tooth extraction and exposure of the lesions into the oral cavity. {ECO 0000269|PubMed 15124103, ECO 0000269|PubMed 23047743, ECO 0000269|PubMed 27216912}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE ANO5_HUMAN Limb-girdle muscular dystrophy 2L (LGMD2L) [MIM 611307] An autosomal recessive degenerative myopathy characterized by proximal weakness, weakness of the hip and shoulder girdles and prominent asymmetrical quadriceps femoris and biceps brachii atrophy. {ECO 0000269|PubMed 20096397}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE ANO5_HUMAN Miyoshi muscular dystrophy 3 (MMD3) [MIM 613319] A late- onset muscular dystrophy characterized by distal muscle weakness of the lower limbs, calf muscle discomfort and weakness, quadriceps atrophy. Muscle weakness and atrophy may be asymmetric. {ECO 0000269|PubMed 20096397, ECO 0000269|PubMed 22499103}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000324559 ENSP00000315371; ENSG00000171714 # FUNCTION ANO5_HUMAN Does not exhibit calcium-activated chloride channel (CaCC) activity. {ECO 0000269|PubMed 20056604, ECO 0000269|PubMed 23047743}. # GO_component GO:0005622 intracellular; IDA:UniProtKB. # GO_component GO:0005789 endoplasmic reticulum membrane; IEA:UniProtKB-SubCell. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0031982 vesicle; IEA:Ensembl. # GO_function GO:0005229 intracellular calcium activated chloride channel activity; IDA:UniProtKB. # GO_process GO:0006821 chloride transport; IDA:UniProtKB. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005622 intracellular # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0055085 transmembrane transport # Genevisible Q75V66 HS # HGNC HGNC:27337 ANO5 # InterPro IPR007632 Anoctamin # InterPro IPR031294 Anoctamin-5 # InterPro IPR032394 Anoct_dimer # KEGG_Disease H00498 [Skeletal dysplasia] Gnathodiaphyseal dysplasia # KEGG_Disease H00593 [Musculoskeletal disease; Nervous system disease] Limb-girdle muscular dystrophy (LGMD) # KEGG_Disease H00594 [Musculoskeletal disease; Nervous system disease] Distal myopathy 3 (MPD2, VCPDM) # MIM 166260 phenotype # MIM 608662 gene # MIM 611307 phenotype # MIM 613319 phenotype # MISCELLANEOUS ANO5_HUMAN The term 'anoctamin' was coined because these channels are anion selective and have eight (OCT) transmembrane segments. There is some dissatisfaction in the field with the Ano nomenclature because it is not certain that all the members of this family are anion channels or have the 8-transmembrane topology. # Organism ANO5_HUMAN Homo sapiens (Human) # Orphanet 206549 Autosomal recessive limb-girdle muscular dystrophy type 2L # Orphanet 399096 Distal anoctaminopathy # Orphanet 53697 Gnathodiaphyseal dysplasia # PANTHER PTHR12308 PTHR12308 # PANTHER PTHR12308:SF23 PTHR12308:SF23 # Pfam PF04547 Anoctamin # Pfam PF16178 Anoct_dimer # Proteomes UP000005640 Chromosome 11 # Reactome R-HSA-2672351 Stimuli-sensing channels # RecName ANO5_HUMAN Anoctamin-5 # RefSeq NP_001136121 NM_001142649.1 # RefSeq NP_998764 NM_213599.2 # SIMILARITY Belongs to the anoctamin family. {ECO 0000305}. # SUBCELLULAR LOCATION ANO5_HUMAN Endoplasmic reticulum membrane {ECO 0000269|PubMed 15124103}; Multi-pass membrane protein {ECO 0000255}. Cell membrane {ECO 0000269|PubMed 20056604, ECO 0000269|PubMed 22946059}; Multi-pass membrane protein {ECO 0000255}. Note=Colocalized with CALR/calreticulin (PubMed 15124103). Shows an intracellular localization according to PubMed 22075693. {ECO 0000269|PubMed 15124103, ECO 0000269|PubMed 22075693}. # TCDB 1.A.17.1.21 the calcium-dependent chloride channel (ca-clc) family # TISSUE SPECIFICITY ANO5_HUMAN Highly expressed in brain, heart, kidney, lung, and skeletal muscle. Weakly expressed in bone marrow, fetal liver, placenta, spleen, thymus, osteoblasts and periodontal ligament cells. {ECO 0000269|PubMed 15067359, ECO 0000269|PubMed 15124103}. # UCSC uc001mqi human # eggNOG ENOG410XS4S LUCA # eggNOG KOG2514 Eukaryota BLAST swissprot:ANO5_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ANO5_HUMAN COXPRESdb 203859 http://coxpresdb.jp/data/gene/203859.shtml CleanEx HS_ANO5 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ANO5 DOI 10.1002/mus.23281 http://dx.doi.org/10.1002/mus.23281 DOI 10.1007/s00424-011-0975-9 http://dx.doi.org/10.1007/s00424-011-0975-9 DOI 10.1016/j.ajhg.2009.12.013 http://dx.doi.org/10.1016/j.ajhg.2009.12.013 DOI 10.1038/aps.2011.48 http://dx.doi.org/10.1038/aps.2011.48 DOI 10.1038/ejhg.2012.224 http://dx.doi.org/10.1038/ejhg.2012.224 DOI 10.1038/srep26440 http://dx.doi.org/10.1038/srep26440 DOI 10.1074/jbc.M109.065367 http://dx.doi.org/10.1074/jbc.M109.065367 DOI 10.1086/421527 http://dx.doi.org/10.1086/421527 DOI 10.1113/expphysiol.2011.058214 http://dx.doi.org/10.1113/expphysiol.2011.058214 DOI 10.1152/ajpcell.00140.2011 http://dx.doi.org/10.1152/ajpcell.00140.2011 DOI 10.1242/jcs.109553 http://dx.doi.org/10.1242/jcs.109553 EMBL AB125267 http://www.ebi.ac.uk/ena/data/view/AB125267 Ensembl ENST00000324559 http://www.ensembl.org/id/ENST00000324559 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005622 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005622 GO_component GO:0005789 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005789 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0031982 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031982 GO_function GO:0005229 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005229 GO_process GO:0006821 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006821 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005622 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005622 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards ANO5 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ANO5 GeneID 203859 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=203859 GeneTree ENSGT00760000119015 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119015 HGNC HGNC:27337 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:27337 HOGENOM HOG000006509 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000006509&db=HOGENOM6 HOVERGEN HBG069519 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG069519&db=HOVERGEN HPA HPA058857 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA058857 InParanoid Q75V66 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q75V66 IntAct Q75V66 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q75V66* InterPro IPR007632 http://www.ebi.ac.uk/interpro/entry/IPR007632 InterPro IPR031294 http://www.ebi.ac.uk/interpro/entry/IPR031294 InterPro IPR032394 http://www.ebi.ac.uk/interpro/entry/IPR032394 Jabion 203859 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=203859 KEGG_Disease H00498 http://www.genome.jp/dbget-bin/www_bget?H00498 KEGG_Disease H00593 http://www.genome.jp/dbget-bin/www_bget?H00593 KEGG_Disease H00594 http://www.genome.jp/dbget-bin/www_bget?H00594 KEGG_Gene hsa:203859 http://www.genome.jp/dbget-bin/www_bget?hsa:203859 MIM 166260 http://www.ncbi.nlm.nih.gov/omim/166260 MIM 608662 http://www.ncbi.nlm.nih.gov/omim/608662 MIM 611307 http://www.ncbi.nlm.nih.gov/omim/611307 MIM 613319 http://www.ncbi.nlm.nih.gov/omim/613319 OMA FTTCRYR http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=FTTCRYR Orphanet 206549 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=206549 Orphanet 399096 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=399096 Orphanet 53697 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=53697 OrthoDB EOG091G01JF http://cegg.unige.ch/orthodb/results?searchtext=EOG091G01JF PANTHER PTHR12308 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12308 PANTHER PTHR12308:SF23 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12308:SF23 PSORT swissprot:ANO5_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ANO5_HUMAN PSORT-B swissprot:ANO5_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ANO5_HUMAN PSORT2 swissprot:ANO5_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ANO5_HUMAN Pfam PF04547 http://pfam.xfam.org/family/PF04547 Pfam PF16178 http://pfam.xfam.org/family/PF16178 PharmGKB PA164715641 http://www.pharmgkb.org/do/serve?objId=PA164715641&objCls=Gene Phobius swissprot:ANO5_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ANO5_HUMAN PhylomeDB Q75V66 http://phylomedb.org/?seqid=Q75V66 ProteinModelPortal Q75V66 http://www.proteinmodelportal.org/query/uniprot/Q75V66 PubMed 15067359 http://www.ncbi.nlm.nih.gov/pubmed/15067359 PubMed 15124103 http://www.ncbi.nlm.nih.gov/pubmed/15124103 PubMed 20056604 http://www.ncbi.nlm.nih.gov/pubmed/20056604 PubMed 20096397 http://www.ncbi.nlm.nih.gov/pubmed/20096397 PubMed 21607626 http://www.ncbi.nlm.nih.gov/pubmed/21607626 PubMed 21642943 http://www.ncbi.nlm.nih.gov/pubmed/21642943 PubMed 22075693 http://www.ncbi.nlm.nih.gov/pubmed/22075693 PubMed 22302790 http://www.ncbi.nlm.nih.gov/pubmed/22302790 PubMed 22499103 http://www.ncbi.nlm.nih.gov/pubmed/22499103 PubMed 22946059 http://www.ncbi.nlm.nih.gov/pubmed/22946059 PubMed 23047743 http://www.ncbi.nlm.nih.gov/pubmed/23047743 PubMed 27216912 http://www.ncbi.nlm.nih.gov/pubmed/27216912 Reactome R-HSA-2672351 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2672351 RefSeq NP_001136121 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001136121 RefSeq NP_998764 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_998764 STRING 9606.ENSP00000315371 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000315371&targetmode=cogs TCDB 1.A.17.1.21 http://www.tcdb.org/search/result.php?tc=1.A.17.1.21 UCSC uc001mqi http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001mqi&org=rat UniGene Hs.154329 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.154329 UniProtKB ANO5_HUMAN http://www.uniprot.org/uniprot/ANO5_HUMAN UniProtKB-AC Q75V66 http://www.uniprot.org/uniprot/Q75V66 charge swissprot:ANO5_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ANO5_HUMAN eggNOG ENOG410XS4S http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XS4S eggNOG KOG2514 http://eggnogapi.embl.de/nog_data/html/tree/KOG2514 epestfind swissprot:ANO5_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ANO5_HUMAN garnier swissprot:ANO5_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ANO5_HUMAN helixturnhelix swissprot:ANO5_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ANO5_HUMAN hmoment swissprot:ANO5_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ANO5_HUMAN iep swissprot:ANO5_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ANO5_HUMAN inforesidue swissprot:ANO5_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ANO5_HUMAN neXtProt NX_Q75V66 http://www.nextprot.org/db/entry/NX_Q75V66 octanol swissprot:ANO5_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ANO5_HUMAN pepcoil swissprot:ANO5_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ANO5_HUMAN pepdigest swissprot:ANO5_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ANO5_HUMAN pepinfo swissprot:ANO5_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ANO5_HUMAN pepnet swissprot:ANO5_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ANO5_HUMAN pepstats swissprot:ANO5_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ANO5_HUMAN pepwheel swissprot:ANO5_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ANO5_HUMAN pepwindow swissprot:ANO5_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ANO5_HUMAN sigcleave swissprot:ANO5_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ANO5_HUMAN ## Database ID URL or Descriptions # AltName S18B1_HUMAN Solute carrier family 18 member B1 # CDD cd06174 MFS # Ensembl ENST00000275227 ENSP00000275227; ENSG00000146409 # ExpressionAtlas Q6NT16 baseline and differential # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_function GO:0022857 transmembrane transporter activity; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # Genevisible Q6NT16 HS # HGNC HGNC:21573 SLC18B1 # InterPro IPR011701 MFS # InterPro IPR020846 MFS_dom # MIM 613361 gene # Organism S18B1_HUMAN Homo sapiens (Human) # PROSITE PS50850 MFS # Pfam PF07690 MFS_1; 2 # Proteomes UP000005640 Chromosome 6 # RecName S18B1_HUMAN MFS-type transporter SLC18B1 # RefSeq NP_439896 NM_052831.2 # SIMILARITY Belongs to the major facilitator superfamily. {ECO 0000305}. # SUBCELLULAR LOCATION S18B1_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # SUPFAM SSF103473 SSF103473 # TCDB 2.A.1.2.57 the major facilitator superfamily (mfs) # UCSC uc003qdw human # eggNOG ENOG410INZN Eukaryota # eggNOG ENOG410XYVZ LUCA BLAST swissprot:S18B1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S18B1_HUMAN BioCyc ZFISH:G66-30996-MONOMER http://biocyc.org/getid?id=ZFISH:G66-30996-MONOMER COXPRESdb 116843 http://coxpresdb.jp/data/gene/116843.shtml CleanEx HS_C6orf192 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_C6orf192 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature02055 http://dx.doi.org/10.1038/nature02055 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.1210303109 http://dx.doi.org/10.1073/pnas.1210303109 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AK124442 http://www.ebi.ac.uk/ena/data/view/AK124442 EMBL AK289918 http://www.ebi.ac.uk/ena/data/view/AK289918 EMBL AL032821 http://www.ebi.ac.uk/ena/data/view/AL032821 EMBL AL032821 http://www.ebi.ac.uk/ena/data/view/AL032821 EMBL AL137783 http://www.ebi.ac.uk/ena/data/view/AL137783 EMBL AL137783 http://www.ebi.ac.uk/ena/data/view/AL137783 EMBL BC069567 http://www.ebi.ac.uk/ena/data/view/BC069567 EMBL BC069570 http://www.ebi.ac.uk/ena/data/view/BC069570 EMBL CH471051 http://www.ebi.ac.uk/ena/data/view/CH471051 Ensembl ENST00000275227 http://www.ensembl.org/id/ENST00000275227 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GeneCards SLC18B1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC18B1 GeneID 116843 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=116843 GeneTree ENSGT00390000003851 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000003851 HGNC HGNC:21573 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:21573 HOGENOM HOG000007824 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000007824&db=HOGENOM6 HOVERGEN HBG054469 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG054469&db=HOVERGEN HPA HPA029747 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA029747 HPA HPA049659 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA049659 InParanoid Q6NT16 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q6NT16 InterPro IPR011701 http://www.ebi.ac.uk/interpro/entry/IPR011701 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 116843 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=116843 KEGG_Gene hsa:116843 http://www.genome.jp/dbget-bin/www_bget?hsa:116843 MIM 613361 http://www.ncbi.nlm.nih.gov/omim/613361 OMA RIGAKFM http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=RIGAKFM OrthoDB EOG091G07C8 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G07C8 PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PSORT swissprot:S18B1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S18B1_HUMAN PSORT-B swissprot:S18B1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S18B1_HUMAN PSORT2 swissprot:S18B1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S18B1_HUMAN Pfam PF07690 http://pfam.xfam.org/family/PF07690 PharmGKB PA134992727 http://www.pharmgkb.org/do/serve?objId=PA134992727&objCls=Gene Phobius swissprot:S18B1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S18B1_HUMAN PhylomeDB Q6NT16 http://phylomedb.org/?seqid=Q6NT16 ProteinModelPortal Q6NT16 http://www.proteinmodelportal.org/query/uniprot/Q6NT16 PubMed 14574404 http://www.ncbi.nlm.nih.gov/pubmed/14574404 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 22814378 http://www.ncbi.nlm.nih.gov/pubmed/22814378 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 RefSeq NP_439896 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_439896 STRING 9606.ENSP00000275227 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000275227&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.1.2.57 http://www.tcdb.org/search/result.php?tc=2.A.1.2.57 UCSC uc003qdw http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003qdw&org=rat UniGene Hs.347144 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.347144 UniProtKB S18B1_HUMAN http://www.uniprot.org/uniprot/S18B1_HUMAN UniProtKB-AC Q6NT16 http://www.uniprot.org/uniprot/Q6NT16 charge swissprot:S18B1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S18B1_HUMAN eggNOG ENOG410INZN http://eggnogapi.embl.de/nog_data/html/tree/ENOG410INZN eggNOG ENOG410XYVZ http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XYVZ epestfind swissprot:S18B1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S18B1_HUMAN garnier swissprot:S18B1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S18B1_HUMAN helixturnhelix swissprot:S18B1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S18B1_HUMAN hmoment swissprot:S18B1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S18B1_HUMAN iep swissprot:S18B1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S18B1_HUMAN inforesidue swissprot:S18B1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S18B1_HUMAN neXtProt NX_Q6NT16 http://www.nextprot.org/db/entry/NX_Q6NT16 octanol swissprot:S18B1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S18B1_HUMAN pepcoil swissprot:S18B1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S18B1_HUMAN pepdigest swissprot:S18B1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S18B1_HUMAN pepinfo swissprot:S18B1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S18B1_HUMAN pepnet swissprot:S18B1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S18B1_HUMAN pepstats swissprot:S18B1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S18B1_HUMAN pepwheel swissprot:S18B1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S18B1_HUMAN pepwindow swissprot:S18B1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S18B1_HUMAN sigcleave swissprot:S18B1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S18B1_HUMAN ## Database ID URL or Descriptions # AltName CX6A1_HUMAN Cytochrome c oxidase polypeptide VIa-liver # AltName CX6A1_HUMAN Cytochrome c oxidase subunit VIA-liver # BioGrid 107730 14 # CDD cd00925 Cyt_c_Oxidase_VIa # ChiTaRS COX6A1 human # DISEASE CX6A1_HUMAN Charcot-Marie-Tooth disease, recessive, intermediate type, D (CMTRID) [MIM 616039] A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Recessive intermediate forms of Charcot-Marie-Tooth disease are characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec. {ECO 0000269|PubMed 25152455}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000229379 ENSP00000229379; ENSG00000111775 # ExpressionAtlas P12074 baseline and differential # FUNCTION CX6A1_HUMAN This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport. # GO_component GO:0005743 mitochondrial inner membrane; TAS:Reactome. # GO_component GO:0005751 mitochondrial respiratory chain complex IV; IBA:GO_Central. # GO_function GO:0004129 cytochrome-c oxidase activity; IEA:InterPro. # GO_function GO:0030234 enzyme regulator activity; IBA:GO_Central. # GO_process GO:0006091 generation of precursor metabolites and energy; TAS:ProtInc. # GO_process GO:0006123 mitochondrial electron transport, cytochrome c to oxygen; IBA:GO_Central. # GO_process GO:0009060 aerobic respiration; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0043234 protein complex # GOslim_function GO:0016491 oxidoreductase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0030234 enzyme regulator activity # GOslim_process GO:0006091 generation of precursor metabolites and energy # Gene3D 4.10.95.10 -; 1. # Genevisible P12074 HS # HGNC HGNC:2277 COX6A1 # IntAct P12074 4 # InterPro IPR001349 Cyt_c_oxidase_su6a # InterPro IPR018507 Cyt_c_oxidase_su6a_CS # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Pathway ko00190 Oxidative phosphorylation # KEGG_Pathway ko04260 Cardiac muscle contraction # KEGG_Pathway ko05010 Alzheimer's disease # KEGG_Pathway ko05012 Parkinson's disease # KEGG_Pathway ko05016 Huntington's disease # MIM 602072 gene # MIM 616039 phenotype # Organism CX6A1_HUMAN Homo sapiens (Human) # PANTHER PTHR11504 PTHR11504 # PIRSF PIRSF000277 COX6A1 # PROSITE PS01329 COX6A # Pfam PF02046 COX6A # ProDom PD006036 Cyt_c_oxidase_su6a # Proteomes UP000005640 Chromosome 12 # Reactome R-HSA-5628897 TP53 Regulates Metabolic Genes # Reactome R-HSA-611105 Respiratory electron transport # RecName CX6A1_HUMAN Cytochrome c oxidase subunit 6A1, mitochondrial # RefSeq NP_004364 NM_004373.3 # SEQUENCE CAUTION Sequence=CAA33392.1; Type=Frameshift; Positions=17; Evidence={ECO 0000305}; # SIMILARITY Belongs to the cytochrome c oxidase subunit 6A family. {ECO 0000305}. # SUBCELLULAR LOCATION CX6A1_HUMAN Mitochondrion inner membrane. # SUPFAM SSF81411 SSF81411 # UCSC uc001tyf human # eggNOG ENOG411253X LUCA # eggNOG KOG3469 Eukaryota BLAST swissprot:CX6A1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CX6A1_HUMAN BioCyc ZFISH:HS03462-MONOMER http://biocyc.org/getid?id=ZFISH:HS03462-MONOMER COXPRESdb 1337 http://coxpresdb.jp/data/gene/1337.shtml CleanEx HS_COX6A1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_COX6A1 DOI 10.1002/elps.11501301201 http://dx.doi.org/10.1002/elps.11501301201 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1016/j.ajhg.2014.07.013 http://dx.doi.org/10.1016/j.ajhg.2014.07.013 DOI 10.1038/nature04569 http://dx.doi.org/10.1038/nature04569 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1093/nar/17.15.6409 http://dx.doi.org/10.1093/nar/17.15.6409 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AK312009 http://www.ebi.ac.uk/ena/data/view/AK312009 EMBL AL021546 http://www.ebi.ac.uk/ena/data/view/AL021546 EMBL BC007723 http://www.ebi.ac.uk/ena/data/view/BC007723 EMBL BC070186 http://www.ebi.ac.uk/ena/data/view/BC070186 EMBL BC107861 http://www.ebi.ac.uk/ena/data/view/BC107861 EMBL X15341 http://www.ebi.ac.uk/ena/data/view/X15341 Ensembl ENST00000229379 http://www.ensembl.org/id/ENST00000229379 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0005751 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005751 GO_function GO:0004129 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004129 GO_function GO:0030234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030234 GO_process GO:0006091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006091 GO_process GO:0006123 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006123 GO_process GO:0009060 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009060 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0016491 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016491 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0030234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030234 GOslim_process GO:0006091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006091 Gene3D 4.10.95.10 http://www.cathdb.info/version/latest/superfamily/4.10.95.10 GeneCards COX6A1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=COX6A1 GeneID 1337 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=1337 GeneTree ENSGT00390000002756 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000002756 HGNC HGNC:2277 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:2277 HOGENOM HOG000193965 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000193965&db=HOGENOM6 HOVERGEN HBG060482 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG060482&db=HOVERGEN HPA HPA062394 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA062394 InParanoid P12074 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P12074 IntAct P12074 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P12074* InterPro IPR001349 http://www.ebi.ac.uk/interpro/entry/IPR001349 InterPro IPR018507 http://www.ebi.ac.uk/interpro/entry/IPR018507 Jabion 1337 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=1337 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00002 http://www.genome.jp/dbget-bin/www_bget?ko00002 KEGG_Gene hsa:1337 http://www.genome.jp/dbget-bin/www_bget?hsa:1337 KEGG_Orthology KO:K02266 http://www.genome.jp/dbget-bin/www_bget?KO:K02266 KEGG_Pathway ko00190 http://www.genome.jp/kegg-bin/show_pathway?ko00190 KEGG_Pathway ko04260 http://www.genome.jp/kegg-bin/show_pathway?ko04260 KEGG_Pathway ko05010 http://www.genome.jp/kegg-bin/show_pathway?ko05010 KEGG_Pathway ko05012 http://www.genome.jp/kegg-bin/show_pathway?ko05012 KEGG_Pathway ko05016 http://www.genome.jp/kegg-bin/show_pathway?ko05016 MIM 602072 http://www.ncbi.nlm.nih.gov/omim/602072 MIM 616039 http://www.ncbi.nlm.nih.gov/omim/616039 OMA GYEGHDE http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=GYEGHDE OrthoDB EOG091G0C5F http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0C5F PANTHER PTHR11504 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11504 PROSITE PS01329 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS01329 PSORT swissprot:CX6A1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CX6A1_HUMAN PSORT-B swissprot:CX6A1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CX6A1_HUMAN PSORT2 swissprot:CX6A1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CX6A1_HUMAN Pfam PF02046 http://pfam.xfam.org/family/PF02046 PharmGKB PA26794 http://www.pharmgkb.org/do/serve?objId=PA26794&objCls=Gene Phobius swissprot:CX6A1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CX6A1_HUMAN PhylomeDB P12074 http://phylomedb.org/?seqid=P12074 ProteinModelPortal P12074 http://www.proteinmodelportal.org/query/uniprot/P12074 PubMed 1286669 http://www.ncbi.nlm.nih.gov/pubmed/1286669 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16541075 http://www.ncbi.nlm.nih.gov/pubmed/16541075 PubMed 25152455 http://www.ncbi.nlm.nih.gov/pubmed/25152455 PubMed 2549515 http://www.ncbi.nlm.nih.gov/pubmed/2549515 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 Reactome R-HSA-5628897 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5628897 Reactome R-HSA-611105 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-611105 RefSeq NP_004364 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004364 SMR P12074 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P12074 STRING 9606.ENSP00000229379 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000229379&targetmode=cogs SUPFAM SSF81411 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81411 SWISS-2DPAGE P12074 http://world-2dpage.expasy.org/swiss-2dpage/protein/ac=P12074 UCSC uc001tyf http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001tyf&org=rat UniGene Hs.369624 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.369624 UniProtKB CX6A1_HUMAN http://www.uniprot.org/uniprot/CX6A1_HUMAN UniProtKB-AC P12074 http://www.uniprot.org/uniprot/P12074 charge swissprot:CX6A1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CX6A1_HUMAN eggNOG ENOG411253X http://eggnogapi.embl.de/nog_data/html/tree/ENOG411253X eggNOG KOG3469 http://eggnogapi.embl.de/nog_data/html/tree/KOG3469 epestfind swissprot:CX6A1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CX6A1_HUMAN garnier swissprot:CX6A1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CX6A1_HUMAN helixturnhelix swissprot:CX6A1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CX6A1_HUMAN hmoment swissprot:CX6A1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CX6A1_HUMAN iep swissprot:CX6A1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CX6A1_HUMAN inforesidue swissprot:CX6A1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CX6A1_HUMAN neXtProt NX_P12074 http://www.nextprot.org/db/entry/NX_P12074 octanol swissprot:CX6A1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CX6A1_HUMAN pepcoil swissprot:CX6A1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CX6A1_HUMAN pepdigest swissprot:CX6A1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CX6A1_HUMAN pepinfo swissprot:CX6A1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CX6A1_HUMAN pepnet swissprot:CX6A1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CX6A1_HUMAN pepstats swissprot:CX6A1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CX6A1_HUMAN pepwheel swissprot:CX6A1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CX6A1_HUMAN pepwindow swissprot:CX6A1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CX6A1_HUMAN sigcleave swissprot:CX6A1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CX6A1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q7LBE3-1; Sequence=Displayed; Name=2; IsoId=Q7LBE3-2; Sequence=VSP_054056; Note=Ref.2 (AAL26867) and Ref.4 (EAW91587) sequences are in conflict in position: 804 R->G. {ECO:0000305}; # AltName S26A9_HUMAN Anion transporter/exchanger protein 9 # CCDS CCDS30989 -. [Q7LBE3-2] # CCDS CCDS30990 -. [Q7LBE3-1] # Ensembl ENST00000340781 ENSP00000341682; ENSG00000174502. [Q7LBE3-2] # Ensembl ENST00000367134 ENSP00000356102; ENSG00000174502. [Q7LBE3-2] # Ensembl ENST00000367135 ENSP00000356103; ENSG00000174502. [Q7LBE3-1] # FUNCTION S26A9_HUMAN DIDS- and thiosulfate- sensitive anion exchanger mediating chloride, sulfate and oxalate transport. Mediates chloride/bicarbonate exchange or chloride-independent bicarbonate extrusion thus assuring bicarbonate secretion. Inhibited by ammonium and thiosulfate. {ECO 0000269|PubMed 11834742, ECO 0000269|PubMed 15800055}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0009986 cell surface; IDA:UniProtKB. # GO_component GO:0016324 apical plasma membrane; IDA:UniProtKB. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0005254 chloride channel activity; IDA:UniProtKB. # GO_function GO:0008271 secondary active sulfate transmembrane transporter activity; IEA:InterPro. # GO_function GO:0015106 bicarbonate transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015116 sulfate transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0019531 oxalate transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0051117 ATPase binding; IPI:UniProtKB. # GO_function S26A9_HUMAN GO 0015301 anion anion antiporter activity; IDA UniProtKB. # GO_process GO:0006811 ion transport; TAS:Reactome. # GO_process GO:0006820 anion transport; IDA:UniProtKB. # GO_process GO:0006821 chloride transport; IDA:UniProtKB. # GO_process GO:0010628 positive regulation of gene expression; IDA:UniProtKB. # GO_process GO:0015701 bicarbonate transport; IDA:UniProtKB. # GO_process GO:0042391 regulation of membrane potential; IBA:GO_Central. # GO_process GO:0051453 regulation of intracellular pH; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0019899 enzyme binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # Gene3D 3.30.750.24 -; 2. # Genevisible Q7LBE3 HS # HGNC HGNC:14469 SLC26A9 # InterPro IPR001902 SLC26A/SulP_fam # InterPro IPR002645 STAS_dom # InterPro IPR011547 SLC26A/SulP_dom # InterPro IPR030306 SLC26A9 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02001 Solute carrier family # KEGG_Pathway ko04978 Mineral absorption # MIM 608481 gene # Organism S26A9_HUMAN Homo sapiens (Human) # PANTHER PTHR11814 PTHR11814; 2 # PANTHER PTHR11814:SF17 PTHR11814:SF17; 2 # PROSITE PS50801 STAS # Pfam PF00916 Sulfate_transp # Pfam PF01740 STAS # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-427601 Multifunctional anion exchangers # RecName S26A9_HUMAN Solute carrier family 26 member 9 # RefSeq NP_443166 NM_052934.3. [Q7LBE3-1] # RefSeq NP_599152 NM_134325.2. [Q7LBE3-2] # SIMILARITY Belongs to the SLC26A/SulP transporter (TC 2.A.53) family. {ECO 0000305}. # SIMILARITY Contains 1 STAS domain. {ECO:0000255|PROSITE- ProRule PRU00198}. # SUBCELLULAR LOCATION S26A9_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # SUPFAM SSF52091 SSF52091; 2 # TCDB 2.A.53.2.15 the sulfate permease (sulp) family # TIGRFAMs TIGR00815 sulP # TISSUE SPECIFICITY Predominantly expressed in lung at the luminal side of the bronchiolar and alveolar epithelium of lung. To a lower extent, also expressed in pancreas and prostate. {ECO:0000269|PubMed 11834742}. # UCSC uc001hdp human. [Q7LBE3-1] # eggNOG COG0659 LUCA # eggNOG KOG0236 Eukaryota BLAST swissprot:S26A9_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S26A9_HUMAN COXPRESdb 115019 http://coxpresdb.jp/data/gene/115019.shtml CleanEx HS_SLC26A9 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC26A9 DOI 10.1002/humu.22107 http://dx.doi.org/10.1002/humu.22107 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1074/jbc.M111802200 http://dx.doi.org/10.1074/jbc.M111802200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1152/ajpcell.00030.2005 http://dx.doi.org/10.1152/ajpcell.00030.2005 EMBL AF314958 http://www.ebi.ac.uk/ena/data/view/AF314958 EMBL AF331525 http://www.ebi.ac.uk/ena/data/view/AF331525 EMBL AL713965 http://www.ebi.ac.uk/ena/data/view/AL713965 EMBL BC136538 http://www.ebi.ac.uk/ena/data/view/BC136538 EMBL BC151208 http://www.ebi.ac.uk/ena/data/view/BC151208 EMBL CH471067 http://www.ebi.ac.uk/ena/data/view/CH471067 EMBL CH471067 http://www.ebi.ac.uk/ena/data/view/CH471067 Ensembl ENST00000340781 http://www.ensembl.org/id/ENST00000340781 Ensembl ENST00000367134 http://www.ensembl.org/id/ENST00000367134 Ensembl ENST00000367135 http://www.ensembl.org/id/ENST00000367135 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0009986 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009986 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0005254 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005254 GO_function GO:0008271 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008271 GO_function GO:0015106 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015106 GO_function GO:0015116 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015116 GO_function GO:0015301 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015301 GO_function GO:0019531 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019531 GO_function GO:0051117 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051117 GO_process GO:0006811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006811 GO_process GO:0006820 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006820 GO_process GO:0006821 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006821 GO_process GO:0010628 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010628 GO_process GO:0015701 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015701 GO_process GO:0042391 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042391 GO_process GO:0051453 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051453 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 Gene3D 3.30.750.24 http://www.cathdb.info/version/latest/superfamily/3.30.750.24 GeneCards SLC26A9 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC26A9 GeneID 115019 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=115019 GeneTree ENSGT00760000119026 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119026 HGNC HGNC:14469 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:14469 HOGENOM HOG000006546 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000006546&db=HOGENOM6 HOVERGEN HBG000639 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG000639&db=HOVERGEN HPA HPA051485 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA051485 InParanoid Q7LBE3 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q7LBE3 InterPro IPR001902 http://www.ebi.ac.uk/interpro/entry/IPR001902 InterPro IPR002645 http://www.ebi.ac.uk/interpro/entry/IPR002645 InterPro IPR011547 http://www.ebi.ac.uk/interpro/entry/IPR011547 InterPro IPR030306 http://www.ebi.ac.uk/interpro/entry/IPR030306 Jabion 115019 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=115019 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:115019 http://www.genome.jp/dbget-bin/www_bget?hsa:115019 KEGG_Orthology KO:K14706 http://www.genome.jp/dbget-bin/www_bget?KO:K14706 KEGG_Pathway ko04978 http://www.genome.jp/kegg-bin/show_pathway?ko04978 MIM 608481 http://www.ncbi.nlm.nih.gov/omim/608481 OMA FMQFGFV http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=FMQFGFV OrthoDB EOG091G07RT http://cegg.unige.ch/orthodb/results?searchtext=EOG091G07RT PANTHER PTHR11814 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11814 PANTHER PTHR11814:SF17 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11814:SF17 PROSITE PS50801 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50801 PSORT swissprot:S26A9_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S26A9_HUMAN PSORT-B swissprot:S26A9_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S26A9_HUMAN PSORT2 swissprot:S26A9_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S26A9_HUMAN Pfam PF00916 http://pfam.xfam.org/family/PF00916 Pfam PF01740 http://pfam.xfam.org/family/PF01740 PharmGKB PA37886 http://www.pharmgkb.org/do/serve?objId=PA37886&objCls=Gene Phobius swissprot:S26A9_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S26A9_HUMAN PhylomeDB Q7LBE3 http://phylomedb.org/?seqid=Q7LBE3 ProteinModelPortal Q7LBE3 http://www.proteinmodelportal.org/query/uniprot/Q7LBE3 PubMed 11834742 http://www.ncbi.nlm.nih.gov/pubmed/11834742 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15800055 http://www.ncbi.nlm.nih.gov/pubmed/15800055 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 22544634 http://www.ncbi.nlm.nih.gov/pubmed/22544634 Reactome R-HSA-427601 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-427601 RefSeq NP_443166 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_443166 RefSeq NP_599152 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_599152 SMR Q7LBE3 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q7LBE3 STRING 9606.ENSP00000341682 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000341682&targetmode=cogs SUPFAM SSF52091 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52091 TCDB 2.A.53.2.15 http://www.tcdb.org/search/result.php?tc=2.A.53.2.15 TIGRFAMs TIGR00815 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00815 UCSC uc001hdp http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001hdp&org=rat UniGene Hs.164073 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.164073 UniProtKB S26A9_HUMAN http://www.uniprot.org/uniprot/S26A9_HUMAN UniProtKB-AC Q7LBE3 http://www.uniprot.org/uniprot/Q7LBE3 charge swissprot:S26A9_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S26A9_HUMAN eggNOG COG0659 http://eggnogapi.embl.de/nog_data/html/tree/COG0659 eggNOG KOG0236 http://eggnogapi.embl.de/nog_data/html/tree/KOG0236 epestfind swissprot:S26A9_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S26A9_HUMAN garnier swissprot:S26A9_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S26A9_HUMAN helixturnhelix swissprot:S26A9_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S26A9_HUMAN hmoment swissprot:S26A9_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S26A9_HUMAN iep swissprot:S26A9_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S26A9_HUMAN inforesidue swissprot:S26A9_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S26A9_HUMAN neXtProt NX_Q7LBE3 http://www.nextprot.org/db/entry/NX_Q7LBE3 octanol swissprot:S26A9_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S26A9_HUMAN pepcoil swissprot:S26A9_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S26A9_HUMAN pepdigest swissprot:S26A9_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S26A9_HUMAN pepinfo swissprot:S26A9_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S26A9_HUMAN pepnet swissprot:S26A9_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S26A9_HUMAN pepstats swissprot:S26A9_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S26A9_HUMAN pepwheel swissprot:S26A9_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S26A9_HUMAN pepwindow swissprot:S26A9_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S26A9_HUMAN sigcleave swissprot:S26A9_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S26A9_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS SCN1A_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=P35498-1; Sequence=Displayed; Name=2; IsoId=P35498-2; Sequence=VSP_001031; Name=3; IsoId=P35498-3; Sequence=VSP_045399; # AltName SCN1A_HUMAN Sodium channel protein brain I subunit alpha # AltName SCN1A_HUMAN Sodium channel protein type I subunit alpha # AltName SCN1A_HUMAN Voltage-gated sodium channel subunit alpha Nav1.1 # BioGrid 112228 3 # CCDS CCDS33316 -. [P35498-2] # CCDS CCDS54413 -. [P35498-1] # CCDS CCDS54414 -. [P35498-3] # DISEASE SCN1A_HUMAN Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM 607208] A severe form of epileptic encephalopathy characterized by generalized tonic, clonic, and tonic-clonic seizures that are initially induced by fever and begin during the first year of life. Later, patients also manifest other seizure types, including absence, myoclonic, and simple and complex partial seizures. Psychomotor development delay is observed around the second year of life. Some patients manifest a borderline disease phenotype and do not necessarily fulfill all diagnostic criteria for core EIEE6. EIEE6 is considered to be the most severe phenotype within the spectrum of generalized epilepsies with febrile seizures-plus. {ECO 0000269|PubMed 11359211, ECO 0000269|PubMed 12083760, ECO 0000269|PubMed 12566275, ECO 0000269|PubMed 12754708, ECO 0000269|PubMed 12821740, ECO 0000269|PubMed 14504318, ECO 0000269|PubMed 14738421, ECO 0000269|PubMed 15087100, ECO 0000269|PubMed 15944908, ECO 0000269|PubMed 16122630, ECO 0000269|PubMed 16458823, ECO 0000269|PubMed 16713920, ECO 0000269|PubMed 17054684, ECO 0000269|PubMed 17054685, ECO 0000269|PubMed 17129991, ECO 0000269|PubMed 17347258, ECO 0000269|PubMed 17561957, ECO 0000269|PubMed 18413471, ECO 0000269|PubMed 18639757, ECO 0000269|PubMed 18930999, ECO 0000269|PubMed 19522081, ECO 0000269|PubMed 19563458, ECO 0000269|PubMed 19589774, ECO 0000269|PubMed 19783390, ECO 0000269|PubMed 20110217, ECO 0000269|PubMed 20431604, ECO 0000269|PubMed 20452746, ECO 0000269|PubMed 20522430, ECO 0000269|PubMed 20729507, ECO 0000269|PubMed 21248271, ECO 0000269|PubMed 21864321, ECO 0000269|PubMed 22092154, ECO 0000269|PubMed 22612257, ECO 0000269|PubMed 23195492}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE SCN1A_HUMAN Febrile seizures, familial, 3A (FEB3A) [MIM 604403] Seizures associated with febrile episodes in childhood without any evidence of intracranial infection or defined pathologic or traumatic cause. It is a common condition, affecting 2-5% of children aged 3 months to 5 years. The majority are simple febrile seizures (generally defined as generalized onset, single seizures with a duration of less than 30 minutes). Complex febrile seizures are characterized by focal onset, duration greater than 30 minutes, and/or more than one seizure in a 24 hour period. The likelihood of developing epilepsy following simple febrile seizures is low. Complex febrile seizures are associated with a moderately increased incidence of epilepsy. {ECO 0000269|PubMed 16326807, ECO 0000269|PubMed 19522081}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE SCN1A_HUMAN Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM 604403] A rare autosomal dominant, familial condition with incomplete penetrance and large intrafamilial variability. Patients display febrile seizures persisting sometimes beyond the age of 6 years and/or a variety of afebrile seizure types. This disease combines febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity. {ECO 0000269|PubMed 10742094, ECO 0000269|PubMed 11254444, ECO 0000269|PubMed 11254445, ECO 0000269|PubMed 11524484, ECO 0000269|PubMed 11756608, ECO 0000269|PubMed 12535936, ECO 0000269|PubMed 12576172, ECO 0000269|PubMed 12919402, ECO 0000269|PubMed 14672992, ECO 0000269|PubMed 15525788, ECO 0000269|PubMed 15694566, ECO 0000269|PubMed 15715999, ECO 0000269|PubMed 16525050, ECO 0000269|PubMed 17347258, ECO 0000269|PubMed 17507202, ECO 0000269|PubMed 17561957, ECO 0000269|PubMed 17927801, ECO 0000269|PubMed 17928445, ECO 0000269|PubMed 18251839, ECO 0000269|PubMed 18413471, ECO 0000269|PubMed 18566737, ECO 0000269|PubMed 19339291, ECO 0000269|PubMed 19464195, ECO 0000269|PubMed 19522081, ECO 0000269|PubMed 20117752, ECO 0000269|PubMed 20550552, ECO 0000269|PubMed 20600615, ECO 0000269|PubMed 20729507, ECO 0000269|PubMed 21248271, ECO 0000269|PubMed 21864321}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE SCN1A_HUMAN Intractable childhood epilepsy with generalized tonic- clonic seizures (ICEGTC) [MIM 607208] A disorder characterized by generalized tonic-clonic seizures beginning usually in infancy and induced by fever. Seizures are associated with subsequent mental decline, as well as ataxia or hypotonia. ICEGTC is similar to SMEI, except for the absence of myoclonic seizures. {ECO 0000269|PubMed 12566275, ECO 0000269|PubMed 16210358, ECO 0000269|PubMed 17507202, ECO 0000269|PubMed 23195492}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE SCN1A_HUMAN Migraine, familial hemiplegic, 3 (FHM3) [MIM 609634] A subtype of migraine associated with transient blindness in some families. Migraine is a disabling symptom complex of periodic headaches, usually temporal and unilateral. Headaches are often accompanied by irritability, nausea, vomiting and photophobia, preceded by constriction of the cranial arteries. The two major subtypes are common migraine (migraine without aura) and classic migraine (migraine with aura). Classic migraine is characterized by recurrent attacks of reversible neurological symptoms (aura) that precede or accompany the headache. Aura may include a combination of sensory disturbances, such as blurred vision, hallucinations, vertigo, numbness and difficulty in concentrating and speaking. {ECO 0000269|PubMed 16054936, ECO 0000269|PubMed 17397047, ECO 0000269|PubMed 18021921, ECO 0000269|PubMed 19332696}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE SCN1A_HUMAN Note=SCN1A mutations may be involved in Panayiotopoulos syndrome, a benign age-related focal seizure disorder occurring in early and mid-childhood. It is characterized by seizures, often prolonged, with predominantly autonomic symptoms, and by an electroencephalogram that shows shifting and/or multiple foci, often with occipital predominance. Autonomic seizures in Panayiotopoulos syndrome consist of episodes of disturbed autonomic function with emesis as the predominant symptom. Cardiorespiratory arrest is exceptional. {ECO 0000269|PubMed 17679682, ECO 0000269|PubMed 19339291, ECO 0000269|PubMed 19522081}. # DOMAIN SCN1A_HUMAN The S3b-S4 and S1-S2 loops of repeat IV are targeted by H.maculata toxins Hm1a and Hm1b, leading to inhibit fast inactivation of Nav1.1/SCN1A. Selectivity for H.maculata toxins Hm1a and Hm1b depends on S1-S2 loops of repeat IV. {ECO 0000250|UniProtKB A2APX8}. # DOMAIN SCN1A_HUMAN The sequence contains 4 internal repeats, each with 5 hydrophobic segments (S1,S2,S3,S5,S6) and one positively charged segment (S4). Segments S4 are probably the voltage-sensors and are characterized by a series of positively charged amino acids at every third position. # DrugBank DB00252 Phenytoin # DrugBank DB00273 Topiramate # DrugBank DB00313 Valproic Acid # DrugBank DB00909 Zonisamide # DrugBank DB01121 Phenacemide # DrugBank DB01438 Phenazopyridine # DrugBank DB01595 Nitrazepam # DrugBank DB04855 Dronedarone # DrugBank DB04930 Permethrin # ENZYME REGULATION Specifically activated by the H.maculata toxins Hm1a and Hm1b in somatosensory neurons to elicit acute pain and mechanical allodynia. {ECO:0000250|UniProtKB A2APX8}. # Ensembl ENST00000303395 ENSP00000303540; ENSG00000144285. [P35498-1] # Ensembl ENST00000375405 ENSP00000364554; ENSG00000144285. [P35498-2] # Ensembl ENST00000409050 ENSP00000386312; ENSG00000144285. [P35498-3] # Ensembl ENST00000423058 ENSP00000407030; ENSG00000144285. [P35498-1] # Ensembl ENST00000635750 ENSP00000490799; ENSG00000144285. [P35498-2] # Ensembl ENST00000637988 ENSP00000490780; ENSG00000144285. [P35498-2] # FUNCTION SCN1A_HUMAN Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient. Plays a key role in brain, probably by regulating the moment when neurotransmitters are released in neurons. Involved in sensory perception of mechanical pain activation in somatosensory neurons induces pain without neurogenic inflammation and produces hypersensitivity to mechanical, but not thermal stimuli. {ECO 0000250|UniProtKB A2APX8}. # GO_component GO:0001518 voltage-gated sodium channel complex; IEA:InterPro. # GO_component GO:0005886 plasma membrane; IBA:GO_Central. # GO_component GO:0030018 Z disc; ISS:BHF-UCL. # GO_function GO:0005248 voltage-gated sodium channel activity; ISS:UniProtKB. # GO_process GO:0006814 sodium ion transport; ISS:UniProtKB. # GO_process GO:0019228 neuronal action potential; IBA:GO_Central. # GO_process GO:0050966 detection of mechanical stimulus involved in sensory perception of pain; ISS:UniProtKB. # GO_process GO:0086010 membrane depolarization during action potential; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # Gene3D 1.20.120.350 -; 4. # Genevisible P35498 HS # HGNC HGNC:10585 SCN1A # IntAct P35498 2 # InterPro IPR001696 Na_channel_asu # InterPro IPR005821 Ion_trans_dom # InterPro IPR008051 Na_channel_a1su # InterPro IPR010526 Na_trans_assoc # InterPro IPR024583 Na_trans_cytopl # InterPro IPR027359 Channel_four-helix_dom # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00775 [Nervous system disease] Familial or sporadic hemiplegic migraine # KEGG_Disease H00783 [Nervous system disease; Epilepsy] Dravet syndrome/ Severe myoclonic epilepsy in infancy (SMEI) # KEGG_Pathway ko04728 Dopaminergic synapse # MIM 182389 gene # MIM 604403 phenotype # MIM 607208 phenotype # MIM 609634 phenotype # Organism SCN1A_HUMAN Homo sapiens (Human) # Orphanet 2382 Lennox-Gastaut syndrome # Orphanet 293181 Malignant migrating partial seizures of infancy # Orphanet 33069 Dravet syndrome # Orphanet 36387 Generalized epilepsy with febrile seizures-plus # Orphanet 569 Familial or sporadic hemiplegic migraine # PIR I52964 I52964 # PIR S29184 S29184 # PRINTS PR00170 NACHANNEL # PRINTS PR01664 NACHANNEL1 # PTM SCN1A_HUMAN Phosphorylation at Ser-1516 by PKC in a highly conserved cytoplasmic loop slows inactivation of the sodium channel and reduces peak sodium currents. {ECO 0000250|UniProtKB P04775}. # Pfam PF00520 Ion_trans; 4 # Pfam PF06512 Na_trans_assoc # Pfam PF11933 Na_trans_cytopl # Proteomes UP000005640 Chromosome 2 # Reactome R-HSA-445095 Interaction between L1 and Ankyrins # Reactome R-HSA-5576892 Phase 0 - rapid depolarisation # RecName SCN1A_HUMAN Sodium channel protein type 1 subunit alpha # RefSeq NP_001159435 NM_001165963.1. [P35498-1] # RefSeq NP_001159436 NM_001165964.1. [P35498-3] # RefSeq NP_001189364 NM_001202435.1. [P35498-1] # RefSeq NP_008851 NM_006920.4. [P35498-2] # RefSeq XP_011509904 XM_011511602.2. [P35498-1] # RefSeq XP_011509906 XM_011511604.2. [P35498-2] # RefSeq XP_011509908 XM_011511606.2. [P35498-3] # RefSeq XP_016860133 XM_017004644.1. [P35498-1] # RefSeq XP_016860134 XM_017004645.1. [P35498-2] # RefSeq XP_016860135 XM_017004646.1. [P35498-2] # RefSeq XP_016860136 XM_017004647.1. [P35498-2] # RefSeq XP_016860137 XM_017004648.1. [P35498-2] # RefSeq XP_016860138 XM_017004649.1. [P35498-2] # RefSeq XP_016860140 XM_017004651.1. [P35498-3] # RefSeq XP_016860141 XM_017004652.1. [P35498-3] # SIMILARITY Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.1/SCN1A subfamily. {ECO 0000305}. # SIMILARITY Contains 1 IQ domain. {ECO 0000305}. # SUBCELLULAR LOCATION SCN1A_HUMAN Cell membrane {ECO 0000269|PubMed 17928445}; Multi-pass membrane protein {ECO 0000255}. # SUBUNIT SCN1A_HUMAN The voltage-sensitive sodium channel consists of an ion conducting pore forming alpha-subunit regulated by one or more beta-1 (SCN1B), beta-2 (SCN2B), beta-3 (SCN3B) and/or beta-3 (SCN4B). Beta-1 (SCN1B) and beta-3 (SCN3B) are non-covalently associated with alpha, while beta-2 (SCN2B) is covalently linked by disulfide bonds. Interacts with FGF13; may regulate SCN1A activity (PubMed 21566136). Interacts with SCN1B (PubMed 17928445, PubMed 15525788). {ECO 0000269|PubMed 15525788, ECO 0000269|PubMed 17928445, ECO 0000269|PubMed 21566136}. # TCDB 1.A.1.10 the voltage-gated ion channel (vic) superfamily # UCSC uc061pes human. [P35498-1] # eggNOG COG1226 LUCA # eggNOG ENOG410INF8 Eukaryota BLAST swissprot:SCN1A_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SCN1A_HUMAN BioCyc ZFISH:ENSG00000144285-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000144285-MONOMER COXPRESdb 6323 http://coxpresdb.jp/data/gene/6323.shtml CleanEx HS_SCN1A http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SCN1A DIP DIP-59851N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-59851N DOI 10.1001/archneur.65.4.489 http://dx.doi.org/10.1001/archneur.65.4.489 DOI 10.1002/humu.10217 http://dx.doi.org/10.1002/humu.10217 DOI 10.1002/humu.9486 http://dx.doi.org/10.1002/humu.9486 DOI 10.1007/s10038-008-0306-y http://dx.doi.org/10.1007/s10038-008-0306-y DOI 10.1016/0014-5793(92)80476-W http://dx.doi.org/10.1016/0014-5793(92)80476-W DOI 10.1016/S0006-291X(02)00617-4 http://dx.doi.org/10.1016/S0006-291X(02)00617-4 DOI 10.1016/S0140-6736(05)66786-4 http://dx.doi.org/10.1016/S0140-6736(05)66786-4 DOI 10.1016/S0306-4522(02)00698-X http://dx.doi.org/10.1016/S0306-4522(02)00698-X DOI 10.1016/S0920-1211(02)00259-0 http://dx.doi.org/10.1016/S0920-1211(02)00259-0 DOI 10.1016/S1474-4422(06)70446-X http://dx.doi.org/10.1016/S1474-4422(06)70446-X DOI 10.1016/j.arcmed.2010.04.007 http://dx.doi.org/10.1016/j.arcmed.2010.04.007 DOI 10.1016/j.braindev.2004.11.005 http://dx.doi.org/10.1016/j.braindev.2004.11.005 DOI 10.1016/j.braindev.2009.08.009 http://dx.doi.org/10.1016/j.braindev.2009.08.009 DOI 10.1016/j.ejpn.2010.03.002 http://dx.doi.org/10.1016/j.ejpn.2010.03.002 DOI 10.1016/j.eplepsyres.2004.11.005 http://dx.doi.org/10.1016/j.eplepsyres.2004.11.005 DOI 10.1016/j.eplepsyres.2007.03.018 http://dx.doi.org/10.1016/j.eplepsyres.2007.03.018 DOI 10.1016/j.eplepsyres.2010.04.003 http://dx.doi.org/10.1016/j.eplepsyres.2010.04.003 DOI 10.1016/j.eplepsyres.2012.06.006 http://dx.doi.org/10.1016/j.eplepsyres.2012.06.006 DOI 10.1016/j.eplepsyres.2015.08.001 http://dx.doi.org/10.1016/j.eplepsyres.2015.08.001 DOI 10.1016/j.neulet.2010.06.040 http://dx.doi.org/10.1016/j.neulet.2010.06.040 DOI 10.1016/j.pediatrneurol.2003.10.012 http://dx.doi.org/10.1016/j.pediatrneurol.2003.10.012 DOI 10.1016/j.pediatrneurol.2005.07.009 http://dx.doi.org/10.1016/j.pediatrneurol.2005.07.009 DOI 10.1016/j.pediatrneurol.2007.06.016 http://dx.doi.org/10.1016/j.pediatrneurol.2007.06.016 DOI 10.1016/j.pediatrneurol.2008.04.003 http://dx.doi.org/10.1016/j.pediatrneurol.2008.04.003 DOI 10.1016/j.pediatrneurol.2009.09.007 http://dx.doi.org/10.1016/j.pediatrneurol.2009.09.007 DOI 10.1016/j.seizure.2004.12.007 http://dx.doi.org/10.1016/j.seizure.2004.12.007 DOI 10.1016/j.seizure.2009.04.009 http://dx.doi.org/10.1016/j.seizure.2009.04.009 DOI 10.1038/74159 http://dx.doi.org/10.1038/74159 DOI 10.1038/jhg.2010.39 http://dx.doi.org/10.1038/jhg.2010.39 DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1038/sj.mp.4001241 http://dx.doi.org/10.1038/sj.mp.4001241 DOI 10.1046/j.1528-1157.2003.22503.x http://dx.doi.org/10.1046/j.1528-1157.2003.22503.x DOI 10.1055/s-2005-865607 http://dx.doi.org/10.1055/s-2005-865607 DOI 10.1055/s-2008-1062703 http://dx.doi.org/10.1055/s-2008-1062703 DOI 10.1073/pnas.0506818102 http://dx.doi.org/10.1073/pnas.0506818102 DOI 10.1074/jbc.M111.245803 http://dx.doi.org/10.1074/jbc.M111.245803 DOI 10.1080/08035250600778628 http://dx.doi.org/10.1080/08035250600778628 DOI 10.1086/319516 http://dx.doi.org/10.1086/319516 DOI 10.1086/319524 http://dx.doi.org/10.1086/319524 DOI 10.1086/320609 http://dx.doi.org/10.1086/320609 DOI 10.1093/brain/awg053 http://dx.doi.org/10.1093/brain/awg053 DOI 10.1093/brain/awm002 http://dx.doi.org/10.1093/brain/awm002 DOI 10.1111/j.0013-9580.2004.15103.x http://dx.doi.org/10.1111/j.0013-9580.2004.15103.x DOI 10.1111/j.1365-2125.2009.03437.x http://dx.doi.org/10.1111/j.1365-2125.2009.03437.x DOI 10.1111/j.1399-0004.2009.01155.x http://dx.doi.org/10.1111/j.1399-0004.2009.01155.x DOI 10.1111/j.1442-200X.2009.02916.x http://dx.doi.org/10.1111/j.1442-200X.2009.02916.x DOI 10.1111/j.1460-9568.2011.07826.x http://dx.doi.org/10.1111/j.1460-9568.2011.07826.x DOI 10.1111/j.1528-1167.2006.00641.x http://dx.doi.org/10.1111/j.1528-1167.2006.00641.x DOI 10.1111/j.1528-1167.2006.00643.x http://dx.doi.org/10.1111/j.1528-1167.2006.00643.x DOI 10.1111/j.1528-1167.2007.01122.x http://dx.doi.org/10.1111/j.1528-1167.2007.01122.x DOI 10.1111/j.1528-1167.2007.01411.x http://dx.doi.org/10.1111/j.1528-1167.2007.01411.x DOI 10.1111/j.1528-1167.2007.01439_2.x http://dx.doi.org/10.1111/j.1528-1167.2007.01439_2.x DOI 10.1111/j.1528-1167.2010.02645.x http://dx.doi.org/10.1111/j.1528-1167.2010.02645.x DOI 10.1111/j.1528-1167.2011.03311.x http://dx.doi.org/10.1111/j.1528-1167.2011.03311.x DOI 10.1111/j.1528-1167.2011.03402.x http://dx.doi.org/10.1111/j.1528-1167.2011.03402.x DOI 10.1111/j.1528-1167.2012.03516.x http://dx.doi.org/10.1111/j.1528-1167.2012.03516.x DOI 10.1111/j.1600-0404.2007.00941.x http://dx.doi.org/10.1111/j.1600-0404.2007.00941.x DOI 10.1113/jphysiol.2005.094326 http://dx.doi.org/10.1113/jphysiol.2005.094326 DOI 10.1136/jmg.2008.062323 http://dx.doi.org/10.1136/jmg.2008.062323 DOI 10.1136/jmg.2008.065912 http://dx.doi.org/10.1136/jmg.2008.065912 DOI 10.1136/jmg.2009.074328 http://dx.doi.org/10.1136/jmg.2009.074328 DOI 10.1177/0883073808324537 http://dx.doi.org/10.1177/0883073808324537 DOI 10.1177/0883073809357241 http://dx.doi.org/10.1177/0883073809357241 DOI 10.1177/0883073810365737 http://dx.doi.org/10.1177/0883073810365737 DOI 10.1212/01.WNL.0000069463.41870.2F http://dx.doi.org/10.1212/01.WNL.0000069463.41870.2F DOI 10.1212/01.WNL.0000086379.71183.78 http://dx.doi.org/10.1212/01.WNL.0000086379.71183.78 DOI 10.1212/01.wnl.0000266666.10404.53 http://dx.doi.org/10.1212/01.wnl.0000266666.10404.53 DOI 10.1212/01.wnl.0000345393.53132.8c http://dx.doi.org/10.1212/01.wnl.0000345393.53132.8c DOI 10.1212/WNL.0b013e31820c309b http://dx.doi.org/10.1212/WNL.0b013e31820c309b DOI 10.1212/WNL.57.12.2265 http://dx.doi.org/10.1212/WNL.57.12.2265 DOI 10.1212/WNL.57.4.703 http://dx.doi.org/10.1212/WNL.57.4.703 DOI 10.1523/JNEUROSCI.2034-04.2004 http://dx.doi.org/10.1523/JNEUROSCI.2034-04.2004 DOI 10.1523/JNEUROSCI.2977-05.2006 http://dx.doi.org/10.1523/JNEUROSCI.2977-05.2006 DOI 10.1523/JNEUROSCI.3515-07.2007 http://dx.doi.org/10.1523/JNEUROSCI.3515-07.2007 DrugBank DB00252 http://www.drugbank.ca/drugs/DB00252 DrugBank DB00273 http://www.drugbank.ca/drugs/DB00273 DrugBank DB00313 http://www.drugbank.ca/drugs/DB00313 DrugBank DB00909 http://www.drugbank.ca/drugs/DB00909 DrugBank DB01121 http://www.drugbank.ca/drugs/DB01121 DrugBank DB01438 http://www.drugbank.ca/drugs/DB01438 DrugBank DB01595 http://www.drugbank.ca/drugs/DB01595 DrugBank DB04855 http://www.drugbank.ca/drugs/DB04855 DrugBank DB04930 http://www.drugbank.ca/drugs/DB04930 EMBL AB093548 http://www.ebi.ac.uk/ena/data/view/AB093548 EMBL AB093549 http://www.ebi.ac.uk/ena/data/view/AB093549 EMBL AB098335 http://www.ebi.ac.uk/ena/data/view/AB098335 EMBL AC010127 http://www.ebi.ac.uk/ena/data/view/AC010127 EMBL AF225985 http://www.ebi.ac.uk/ena/data/view/AF225985 EMBL AY043484 http://www.ebi.ac.uk/ena/data/view/AY043484 EMBL M91803 http://www.ebi.ac.uk/ena/data/view/M91803 EMBL S71446 http://www.ebi.ac.uk/ena/data/view/S71446 EMBL X65362 http://www.ebi.ac.uk/ena/data/view/X65362 Ensembl ENST00000303395 http://www.ensembl.org/id/ENST00000303395 Ensembl ENST00000375405 http://www.ensembl.org/id/ENST00000375405 Ensembl ENST00000409050 http://www.ensembl.org/id/ENST00000409050 Ensembl ENST00000423058 http://www.ensembl.org/id/ENST00000423058 Ensembl ENST00000635750 http://www.ensembl.org/id/ENST00000635750 Ensembl ENST00000637988 http://www.ensembl.org/id/ENST00000637988 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0001518 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001518 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0030018 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030018 GO_function GO:0005248 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005248 GO_process GO:0006814 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006814 GO_process GO:0019228 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019228 GO_process GO:0050966 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050966 GO_process GO:0086010 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086010 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 Gene3D 1.20.120.350 http://www.cathdb.info/version/latest/superfamily/1.20.120.350 GeneCards SCN1A http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SCN1A GeneID 6323 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6323 GeneTree ENSGT00830000128242 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00830000128242 HGNC HGNC:10585 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10585 HOGENOM HOG000231755 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231755&db=HOGENOM6 HOVERGEN HBG053100 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG053100&db=HOVERGEN InParanoid P35498 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P35498 IntAct P35498 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P35498* InterPro IPR001696 http://www.ebi.ac.uk/interpro/entry/IPR001696 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR008051 http://www.ebi.ac.uk/interpro/entry/IPR008051 InterPro IPR010526 http://www.ebi.ac.uk/interpro/entry/IPR010526 InterPro IPR024583 http://www.ebi.ac.uk/interpro/entry/IPR024583 InterPro IPR027359 http://www.ebi.ac.uk/interpro/entry/IPR027359 Jabion 6323 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6323 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00775 http://www.genome.jp/dbget-bin/www_bget?H00775 KEGG_Disease H00783 http://www.genome.jp/dbget-bin/www_bget?H00783 KEGG_Gene hsa:6323 http://www.genome.jp/dbget-bin/www_bget?hsa:6323 KEGG_Orthology KO:K04833 http://www.genome.jp/dbget-bin/www_bget?KO:K04833 KEGG_Pathway ko04728 http://www.genome.jp/kegg-bin/show_pathway?ko04728 MIM 182389 http://www.ncbi.nlm.nih.gov/omim/182389 MIM 604403 http://www.ncbi.nlm.nih.gov/omim/604403 MIM 607208 http://www.ncbi.nlm.nih.gov/omim/607208 MIM 609634 http://www.ncbi.nlm.nih.gov/omim/609634 MINT MINT-6542725 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-6542725 OMA DNCMSNH http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=DNCMSNH Orphanet 2382 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=2382 Orphanet 293181 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=293181 Orphanet 33069 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=33069 Orphanet 36387 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=36387 Orphanet 569 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=569 OrthoDB EOG091G00FK http://cegg.unige.ch/orthodb/results?searchtext=EOG091G00FK PRINTS PR00170 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00170 PRINTS PR01664 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01664 PSORT swissprot:SCN1A_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SCN1A_HUMAN PSORT-B swissprot:SCN1A_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SCN1A_HUMAN PSORT2 swissprot:SCN1A_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SCN1A_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF06512 http://pfam.xfam.org/family/PF06512 Pfam PF11933 http://pfam.xfam.org/family/PF11933 PharmGKB PA301 http://www.pharmgkb.org/do/serve?objId=PA301&objCls=Gene Phobius swissprot:SCN1A_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SCN1A_HUMAN PhylomeDB P35498 http://phylomedb.org/?seqid=P35498 ProteinModelPortal P35498 http://www.proteinmodelportal.org/query/uniprot/P35498 PubMed 10742094 http://www.ncbi.nlm.nih.gov/pubmed/10742094 PubMed 11254444 http://www.ncbi.nlm.nih.gov/pubmed/11254444 PubMed 11254445 http://www.ncbi.nlm.nih.gov/pubmed/11254445 PubMed 11359211 http://www.ncbi.nlm.nih.gov/pubmed/11359211 PubMed 11524484 http://www.ncbi.nlm.nih.gov/pubmed/11524484 PubMed 11756608 http://www.ncbi.nlm.nih.gov/pubmed/11756608 PubMed 12083760 http://www.ncbi.nlm.nih.gov/pubmed/12083760 PubMed 12535936 http://www.ncbi.nlm.nih.gov/pubmed/12535936 PubMed 12566275 http://www.ncbi.nlm.nih.gov/pubmed/12566275 PubMed 12576172 http://www.ncbi.nlm.nih.gov/pubmed/12576172 PubMed 12610651 http://www.ncbi.nlm.nih.gov/pubmed/12610651 PubMed 12754708 http://www.ncbi.nlm.nih.gov/pubmed/12754708 PubMed 12821740 http://www.ncbi.nlm.nih.gov/pubmed/12821740 PubMed 12919402 http://www.ncbi.nlm.nih.gov/pubmed/12919402 PubMed 1317301 http://www.ncbi.nlm.nih.gov/pubmed/1317301 PubMed 14504318 http://www.ncbi.nlm.nih.gov/pubmed/14504318 PubMed 14672992 http://www.ncbi.nlm.nih.gov/pubmed/14672992 PubMed 14738421 http://www.ncbi.nlm.nih.gov/pubmed/14738421 PubMed 15087100 http://www.ncbi.nlm.nih.gov/pubmed/15087100 PubMed 15525788 http://www.ncbi.nlm.nih.gov/pubmed/15525788 PubMed 15694566 http://www.ncbi.nlm.nih.gov/pubmed/15694566 PubMed 15715999 http://www.ncbi.nlm.nih.gov/pubmed/15715999 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 PubMed 15944908 http://www.ncbi.nlm.nih.gov/pubmed/15944908 PubMed 16054936 http://www.ncbi.nlm.nih.gov/pubmed/16054936 PubMed 16122630 http://www.ncbi.nlm.nih.gov/pubmed/16122630 PubMed 16210358 http://www.ncbi.nlm.nih.gov/pubmed/16210358 PubMed 16326807 http://www.ncbi.nlm.nih.gov/pubmed/16326807 PubMed 16458823 http://www.ncbi.nlm.nih.gov/pubmed/16458823 PubMed 16525050 http://www.ncbi.nlm.nih.gov/pubmed/16525050 PubMed 16713920 http://www.ncbi.nlm.nih.gov/pubmed/16713920 PubMed 17054684 http://www.ncbi.nlm.nih.gov/pubmed/17054684 PubMed 17054685 http://www.ncbi.nlm.nih.gov/pubmed/17054685 PubMed 17129991 http://www.ncbi.nlm.nih.gov/pubmed/17129991 PubMed 17347258 http://www.ncbi.nlm.nih.gov/pubmed/17347258 PubMed 17397047 http://www.ncbi.nlm.nih.gov/pubmed/17397047 PubMed 17507202 http://www.ncbi.nlm.nih.gov/pubmed/17507202 PubMed 17561957 http://www.ncbi.nlm.nih.gov/pubmed/17561957 PubMed 17679682 http://www.ncbi.nlm.nih.gov/pubmed/17679682 PubMed 17927801 http://www.ncbi.nlm.nih.gov/pubmed/17927801 PubMed 17928445 http://www.ncbi.nlm.nih.gov/pubmed/17928445 PubMed 18021921 http://www.ncbi.nlm.nih.gov/pubmed/18021921 PubMed 18031552 http://www.ncbi.nlm.nih.gov/pubmed/18031552 PubMed 18251839 http://www.ncbi.nlm.nih.gov/pubmed/18251839 PubMed 18330841 http://www.ncbi.nlm.nih.gov/pubmed/18330841 PubMed 18413471 http://www.ncbi.nlm.nih.gov/pubmed/18413471 PubMed 18566737 http://www.ncbi.nlm.nih.gov/pubmed/18566737 PubMed 18639757 http://www.ncbi.nlm.nih.gov/pubmed/18639757 PubMed 18930999 http://www.ncbi.nlm.nih.gov/pubmed/18930999 PubMed 19332696 http://www.ncbi.nlm.nih.gov/pubmed/19332696 PubMed 19339291 http://www.ncbi.nlm.nih.gov/pubmed/19339291 PubMed 19464195 http://www.ncbi.nlm.nih.gov/pubmed/19464195 PubMed 19522081 http://www.ncbi.nlm.nih.gov/pubmed/19522081 PubMed 19563458 http://www.ncbi.nlm.nih.gov/pubmed/19563458 PubMed 19589774 http://www.ncbi.nlm.nih.gov/pubmed/19589774 PubMed 19694741 http://www.ncbi.nlm.nih.gov/pubmed/19694741 PubMed 19783390 http://www.ncbi.nlm.nih.gov/pubmed/19783390 PubMed 20110217 http://www.ncbi.nlm.nih.gov/pubmed/20110217 PubMed 20117752 http://www.ncbi.nlm.nih.gov/pubmed/20117752 PubMed 20392657 http://www.ncbi.nlm.nih.gov/pubmed/20392657 PubMed 20431604 http://www.ncbi.nlm.nih.gov/pubmed/20431604 PubMed 20452746 http://www.ncbi.nlm.nih.gov/pubmed/20452746 PubMed 20522430 http://www.ncbi.nlm.nih.gov/pubmed/20522430 PubMed 20550552 http://www.ncbi.nlm.nih.gov/pubmed/20550552 PubMed 20600615 http://www.ncbi.nlm.nih.gov/pubmed/20600615 PubMed 20682179 http://www.ncbi.nlm.nih.gov/pubmed/20682179 PubMed 20729507 http://www.ncbi.nlm.nih.gov/pubmed/20729507 PubMed 21248271 http://www.ncbi.nlm.nih.gov/pubmed/21248271 PubMed 21566136 http://www.ncbi.nlm.nih.gov/pubmed/21566136 PubMed 21864321 http://www.ncbi.nlm.nih.gov/pubmed/21864321 PubMed 22092154 http://www.ncbi.nlm.nih.gov/pubmed/22092154 PubMed 22309220 http://www.ncbi.nlm.nih.gov/pubmed/22309220 PubMed 22612257 http://www.ncbi.nlm.nih.gov/pubmed/22612257 PubMed 23195492 http://www.ncbi.nlm.nih.gov/pubmed/23195492 PubMed 26311622 http://www.ncbi.nlm.nih.gov/pubmed/26311622 PubMed 8062593 http://www.ncbi.nlm.nih.gov/pubmed/8062593 Reactome R-HSA-445095 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-445095 Reactome R-HSA-5576892 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576892 RefSeq NP_001159435 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001159435 RefSeq NP_001159436 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001159436 RefSeq NP_001189364 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001189364 RefSeq NP_008851 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_008851 RefSeq XP_011509904 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011509904 RefSeq XP_011509906 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011509906 RefSeq XP_011509908 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011509908 RefSeq XP_016860133 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016860133 RefSeq XP_016860134 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016860134 RefSeq XP_016860135 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016860135 RefSeq XP_016860136 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016860136 RefSeq XP_016860137 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016860137 RefSeq XP_016860138 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016860138 RefSeq XP_016860140 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016860140 RefSeq XP_016860141 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016860141 STRING 9606.ENSP00000303540 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000303540&targetmode=cogs TCDB 1.A.1.10 http://www.tcdb.org/search/result.php?tc=1.A.1.10 UCSC uc061pes http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc061pes&org=rat UniGene Hs.22654 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.22654 UniGene Hs.629873 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.629873 UniGene Hs.693440 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.693440 UniGene Hs.740081 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.740081 UniProtKB SCN1A_HUMAN http://www.uniprot.org/uniprot/SCN1A_HUMAN UniProtKB-AC P35498 http://www.uniprot.org/uniprot/P35498 charge swissprot:SCN1A_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SCN1A_HUMAN eggNOG COG1226 http://eggnogapi.embl.de/nog_data/html/tree/COG1226 eggNOG ENOG410INF8 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410INF8 epestfind swissprot:SCN1A_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SCN1A_HUMAN garnier swissprot:SCN1A_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SCN1A_HUMAN helixturnhelix swissprot:SCN1A_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SCN1A_HUMAN hmoment swissprot:SCN1A_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SCN1A_HUMAN iep swissprot:SCN1A_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SCN1A_HUMAN inforesidue swissprot:SCN1A_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SCN1A_HUMAN neXtProt NX_P35498 http://www.nextprot.org/db/entry/NX_P35498 octanol swissprot:SCN1A_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SCN1A_HUMAN pepcoil swissprot:SCN1A_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SCN1A_HUMAN pepdigest swissprot:SCN1A_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SCN1A_HUMAN pepinfo swissprot:SCN1A_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SCN1A_HUMAN pepnet swissprot:SCN1A_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SCN1A_HUMAN pepstats swissprot:SCN1A_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SCN1A_HUMAN pepwheel swissprot:SCN1A_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SCN1A_HUMAN pepwindow swissprot:SCN1A_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SCN1A_HUMAN sigcleave swissprot:SCN1A_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SCN1A_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS VATG3_HUMAN Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q96LB4-1; Sequence=Displayed; Name=2; IsoId=Q96LB4-2; Sequence=Not described; Name=3; IsoId=Q96LB4-3; Sequence=VSP_036423; Name=4; IsoId=Q96LB4-4; Sequence=VSP_036426; Note=No experimental confirmation available.; # AltName VATG3_HUMAN V-ATPase 13 kDa subunit 3 # AltName VATG3_HUMAN Vacuolar proton pump subunit G 3 # CCDS CCDS1395 -. [Q96LB4-1] # CCDS CCDS1396 -. [Q96LB4-3] # CCDS CCDS81414 -. [Q96LB4-4] # Ensembl ENST00000281087 ENSP00000281087; ENSG00000151418. [Q96LB4-1] # Ensembl ENST00000309309 ENSP00000309574; ENSG00000151418. [Q96LB4-3] # Ensembl ENST00000367381 ENSP00000356351; ENSG00000263014. [Q96LB4-1] # Ensembl ENST00000367382 ENSP00000356352; ENSG00000151418. [Q96LB4-1] # Ensembl ENST00000489986 ENSP00000417171; ENSG00000151418. [Q96LB4-4] # Ensembl ENST00000571439 ENSP00000461616; ENSG00000263014. [Q96LB4-3] # Ensembl ENST00000573121 ENSP00000461329; ENSG00000263014. [Q96LB4-1] # Ensembl ENST00000575971 ENSP00000461228; ENSG00000263014. [Q96LB4-4] # FUNCTION VATG3_HUMAN Catalytic subunit of the peripheral V1 complex of vacuolar ATPase (V-ATPase). V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. # GO_component GO:0005829 cytosol; IDA:UniProtKB. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0016471 vacuolar proton-transporting V-type ATPase complex; IEA:InterPro. # GO_function GO:0008553 hydrogen-exporting ATPase activity, phosphorylative mechanism; IEA:Ensembl. # GO_function GO:0051117 ATPase binding; IPI:UniProtKB. # GO_process GO:0008286 insulin receptor signaling pathway; TAS:Reactome. # GO_process GO:0033572 transferrin transport; TAS:Reactome. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0090383 phagosome acidification; TAS:Reactome. # GOslim_component GO:0005829 cytosol # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043234 protein complex # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0019899 enzyme binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Genevisible Q96LB4 HS # HGNC HGNC:18265 ATP6V1G3 # InterPro IPR005124 V-ATPase_G # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Brite ko01000 Enzymes # KEGG_Pathway ko00190 Oxidative phosphorylation # KEGG_Pathway ko04145 Phagosome # KEGG_Pathway ko04721 Synaptic vesicle cycle # KEGG_Pathway ko04966 Collecting duct acid secretion # KEGG_Pathway ko05110 Vibrio cholerae infection # KEGG_Pathway ko05120 Epithelial cell signaling in Helicobacter pylori infection # KEGG_Pathway ko05323 Rheumatoid arthritis # Organism VATG3_HUMAN Homo sapiens (Human) # PANTHER PTHR12713 PTHR12713 # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-1222556 ROS, RNS production in response to bacteria # Reactome R-HSA-77387 Insulin receptor recycling # Reactome R-HSA-917977 Transferrin endocytosis and recycling # Reactome R-HSA-983712 Ion channel transport # RecName VATG3_HUMAN V-type proton ATPase subunit G 3 # RefSeq NP_001307147 NM_001320218.1. [Q96LB4-4] # RefSeq NP_573569 NM_133262.2. [Q96LB4-1] # RefSeq NP_579872 NM_133326.1. [Q96LB4-3] # RefSeq XP_006711226 XM_006711163.3. [Q96LB4-1] # RefSeq XP_011507488 XM_011509186.2. [Q96LB4-4] # RefSeq XP_011507489 XM_011509187.2. [Q96LB4-3] # SIMILARITY Belongs to the V-ATPase G subunit family. {ECO 0000305}. # SUBUNIT V-ATPase is a heteromultimeric enzyme composed of a peripheral catalytic V1 complex (components A to H) attached to an integral membrane V0 proton pore complex (components: a, c, c', c'' and d). {ECO 0000250}. # TCDB 3.A.2.2 the h(+)- or na(+)-translocating f-type, v-type and a-type atpase (f-atpase) superfamily # TIGRFAMs TIGR01147 V_ATP_synt_G # TISSUE SPECIFICITY Kidney. {ECO:0000269|PubMed 12384298}. # UCSC uc001guo human. [Q96LB4-1] # eggNOG ENOG4111XX0 LUCA # eggNOG KOG1772 Eukaryota BLAST swissprot:VATG3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:VATG3_HUMAN BioCyc MetaCyc:HS07734-MONOMER http://biocyc.org/getid?id=MetaCyc:HS07734-MONOMER BioCyc ZFISH:HS07734-MONOMER http://biocyc.org/getid?id=ZFISH:HS07734-MONOMER COXPRESdb 127124 http://coxpresdb.jp/data/gene/127124.shtml CleanEx HS_ATP6V1G3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ATP6V1G3 DOI 10.1016/S0378-1119(02)00884-3 http://dx.doi.org/10.1016/S0378-1119(02)00884-3 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AL157402 http://www.ebi.ac.uk/ena/data/view/AL157402 EMBL AY039760 http://www.ebi.ac.uk/ena/data/view/AY039760 EMBL BC101129 http://www.ebi.ac.uk/ena/data/view/BC101129 EMBL BC101130 http://www.ebi.ac.uk/ena/data/view/BC101130 EMBL BC101131 http://www.ebi.ac.uk/ena/data/view/BC101131 Ensembl ENST00000281087 http://www.ensembl.org/id/ENST00000281087 Ensembl ENST00000309309 http://www.ensembl.org/id/ENST00000309309 Ensembl ENST00000367381 http://www.ensembl.org/id/ENST00000367381 Ensembl ENST00000367382 http://www.ensembl.org/id/ENST00000367382 Ensembl ENST00000489986 http://www.ensembl.org/id/ENST00000489986 Ensembl ENST00000571439 http://www.ensembl.org/id/ENST00000571439 Ensembl ENST00000573121 http://www.ensembl.org/id/ENST00000573121 Ensembl ENST00000575971 http://www.ensembl.org/id/ENST00000575971 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016471 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016471 GO_function GO:0008553 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008553 GO_function GO:0051117 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051117 GO_process GO:0008286 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008286 GO_process GO:0033572 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033572 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0090383 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090383 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards ATP6V1G3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ATP6V1G3 GeneID 127124 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=127124 GeneTree ENSGT00390000011172 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000011172 HGNC HGNC:18265 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:18265 HOGENOM HOG000186416 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000186416&db=HOGENOM6 HOVERGEN HBG057827 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG057827&db=HOVERGEN HPA HPA028701 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA028701 InParanoid Q96LB4 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q96LB4 InterPro IPR005124 http://www.ebi.ac.uk/interpro/entry/IPR005124 Jabion 127124 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=127124 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00002 http://www.genome.jp/dbget-bin/www_bget?ko00002 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Gene hsa:127124 http://www.genome.jp/dbget-bin/www_bget?hsa:127124 KEGG_Orthology KO:K02152 http://www.genome.jp/dbget-bin/www_bget?KO:K02152 KEGG_Pathway ko00190 http://www.genome.jp/kegg-bin/show_pathway?ko00190 KEGG_Pathway ko04145 http://www.genome.jp/kegg-bin/show_pathway?ko04145 KEGG_Pathway ko04721 http://www.genome.jp/kegg-bin/show_pathway?ko04721 KEGG_Pathway ko04966 http://www.genome.jp/kegg-bin/show_pathway?ko04966 KEGG_Pathway ko05110 http://www.genome.jp/kegg-bin/show_pathway?ko05110 KEGG_Pathway ko05120 http://www.genome.jp/kegg-bin/show_pathway?ko05120 KEGG_Pathway ko05323 http://www.genome.jp/kegg-bin/show_pathway?ko05323 OMA YNKYMES http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=YNKYMES OrthoDB EOG091G0XIZ http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0XIZ PANTHER PTHR12713 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12713 PSORT swissprot:VATG3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:VATG3_HUMAN PSORT-B swissprot:VATG3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:VATG3_HUMAN PSORT2 swissprot:VATG3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:VATG3_HUMAN PharmGKB PA38515 http://www.pharmgkb.org/do/serve?objId=PA38515&objCls=Gene Phobius swissprot:VATG3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:VATG3_HUMAN PhylomeDB Q96LB4 http://phylomedb.org/?seqid=Q96LB4 ProteinModelPortal Q96LB4 http://www.proteinmodelportal.org/query/uniprot/Q96LB4 PubMed 12384298 http://www.ncbi.nlm.nih.gov/pubmed/12384298 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 Reactome R-HSA-1222556 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1222556 Reactome R-HSA-77387 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-77387 Reactome R-HSA-917977 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-917977 Reactome R-HSA-983712 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-983712 RefSeq NP_001307147 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001307147 RefSeq NP_573569 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_573569 RefSeq NP_579872 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_579872 RefSeq XP_006711226 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006711226 RefSeq XP_011507488 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011507488 RefSeq XP_011507489 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011507489 SMR Q96LB4 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q96LB4 STRING 9606.ENSP00000281087 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000281087&targetmode=cogs TCDB 3.A.2.2 http://www.tcdb.org/search/result.php?tc=3.A.2.2 TIGRFAMs TIGR01147 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01147 UCSC uc001guo http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001guo&org=rat UniGene Hs.127743 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.127743 UniProtKB VATG3_HUMAN http://www.uniprot.org/uniprot/VATG3_HUMAN UniProtKB-AC Q96LB4 http://www.uniprot.org/uniprot/Q96LB4 charge swissprot:VATG3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:VATG3_HUMAN eggNOG ENOG4111XX0 http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111XX0 eggNOG KOG1772 http://eggnogapi.embl.de/nog_data/html/tree/KOG1772 epestfind swissprot:VATG3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:VATG3_HUMAN garnier swissprot:VATG3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:VATG3_HUMAN helixturnhelix swissprot:VATG3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:VATG3_HUMAN hmoment swissprot:VATG3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:VATG3_HUMAN iep swissprot:VATG3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:VATG3_HUMAN inforesidue swissprot:VATG3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:VATG3_HUMAN neXtProt NX_Q96LB4 http://www.nextprot.org/db/entry/NX_Q96LB4 octanol swissprot:VATG3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:VATG3_HUMAN pepcoil swissprot:VATG3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:VATG3_HUMAN pepdigest swissprot:VATG3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:VATG3_HUMAN pepinfo swissprot:VATG3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:VATG3_HUMAN pepnet swissprot:VATG3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:VATG3_HUMAN pepstats swissprot:VATG3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:VATG3_HUMAN pepwheel swissprot:VATG3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:VATG3_HUMAN pepwindow swissprot:VATG3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:VATG3_HUMAN sigcleave swissprot:VATG3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:VATG3_HUMAN ## Database ID URL or Descriptions # AltName S2542_HUMAN Solute carrier family 25 member 42 # BioGrid 129877 2 # Ensembl ENST00000318596 ENSP00000326693; ENSG00000181035 # ExpressionAtlas Q86VD7 baseline and differential # FUNCTION S2542_HUMAN Mitochondrial carrier mediating the transport of coenzyme A (CoA) in mitochondria in exchange for intramitochondrial (deoxy)adenine nucleotides and adenosine 3',5'- diphosphate. {ECO 0000269|PubMed 19429682}. # GO_component GO:0005634 nucleus; IDA:UniProtKB. # GO_component GO:0005739 mitochondrion; IDA:UniProtKB. # GO_component GO:0005743 mitochondrial inner membrane; IEA:UniProtKB-SubCell. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0005347 ATP transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0015217 ADP transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0015228 coenzyme A transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0043262 adenosine-diphosphatase activity; IDA:UniProtKB. # GO_function GO:0080122 AMP transmembrane transporter activity; IDA:UniProtKB. # GO_process GO:0015866 ADP transport; IDA:UniProtKB. # GO_process GO:0015867 ATP transport; IDA:UniProtKB. # GO_process GO:0035349 coenzyme A transmembrane transport; IDA:UniProtKB. # GO_process GO:0080121 AMP transport; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005739 mitochondrion # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.50.40.10 -; 1. # Genevisible Q86VD7 HS # HGNC HGNC:28380 SLC25A42 # IntAct Q86VD7 4 # InterPro IPR002067 Mit_carrier # InterPro IPR002167 Graves_DC # InterPro IPR014762 DNA_mismatch_repair_CS # InterPro IPR018108 Mitochondrial_sb/sol_carrier # InterPro IPR023395 Mt_carrier_dom # KEGG_Brite ko02001 Solute carrier family # MIM 610823 gene # Organism S2542_HUMAN Homo sapiens (Human) # PRINTS PR00926 MITOCARRIER # PRINTS PR00928 GRAVESDC # PROSITE PS50920 SOLCAR; 3 # Pfam PF00153 Mito_carr; 3 # Proteomes UP000005640 Chromosome 19 # RecName S2542_HUMAN Mitochondrial coenzyme A transporter SLC25A42 # RefSeq NP_001308473 NM_001321544.1 # RefSeq NP_848621 NM_178526.4 # RefSeq XP_005259918 XM_005259861.3 # RefSeq XP_011526239 XM_011527937.2 # SEQUENCE CAUTION Sequence=AAC02758.1; Type=Erroneous gene model prediction; Evidence={ECO 0000305}; # SIMILARITY Belongs to the mitochondrial carrier (TC 2.A.29) family. {ECO 0000305}. # SIMILARITY Contains 3 Solcar repeats. {ECO:0000255|PROSITE- ProRule PRU00282}. # SUBCELLULAR LOCATION S2542_HUMAN Mitochondrion inner membrane {ECO 0000269|PubMed 19429682}; Multi-pass membrane protein {ECO 0000269|PubMed 19429682}. # SUPFAM SSF103506 SSF103506 # TCDB 2.A.29.12 the mitochondrial carrier (mc) family # UCSC uc002nlf human # eggNOG ENOG410ZRF1 LUCA # eggNOG KOG0752 Eukaryota BLAST swissprot:S2542_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S2542_HUMAN COXPRESdb 284439 http://coxpresdb.jp/data/gene/284439.shtml CleanEx HS_SLC25A42 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC25A42 DOI 10.1016/j.ygeno.2006.06.016 http://dx.doi.org/10.1016/j.ygeno.2006.06.016 DOI 10.1038/nature02399 http://dx.doi.org/10.1038/nature02399 DOI 10.1074/jbc.M109.014118 http://dx.doi.org/10.1074/jbc.M109.014118 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AC002126 http://www.ebi.ac.uk/ena/data/view/AC002126 EMBL AC004143 http://www.ebi.ac.uk/ena/data/view/AC004143 EMBL BC045598 http://www.ebi.ac.uk/ena/data/view/BC045598 EMBL FN356975 http://www.ebi.ac.uk/ena/data/view/FN356975 Ensembl ENST00000318596 http://www.ensembl.org/id/ENST00000318596 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005347 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005347 GO_function GO:0015217 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015217 GO_function GO:0015228 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015228 GO_function GO:0043262 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043262 GO_function GO:0080122 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0080122 GO_process GO:0015866 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015866 GO_process GO:0015867 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015867 GO_process GO:0035349 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035349 GO_process GO:0080121 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0080121 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.50.40.10 http://www.cathdb.info/version/latest/superfamily/1.50.40.10 GeneCards SLC25A42 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC25A42 GeneID 284439 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=284439 GeneTree ENSGT00760000119245 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119245 H-InvDB HIX0027465 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0027465 HGNC HGNC:28380 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:28380 HOGENOM HOG000165726 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000165726&db=HOGENOM6 HOVERGEN HBG104402 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG104402&db=HOVERGEN HPA HPA049449 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA049449 InParanoid Q86VD7 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q86VD7 IntAct Q86VD7 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q86VD7* InterPro IPR002067 http://www.ebi.ac.uk/interpro/entry/IPR002067 InterPro IPR002167 http://www.ebi.ac.uk/interpro/entry/IPR002167 InterPro IPR014762 http://www.ebi.ac.uk/interpro/entry/IPR014762 InterPro IPR018108 http://www.ebi.ac.uk/interpro/entry/IPR018108 InterPro IPR023395 http://www.ebi.ac.uk/interpro/entry/IPR023395 Jabion 284439 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=284439 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:284439 http://www.genome.jp/dbget-bin/www_bget?hsa:284439 KEGG_Orthology KO:K15085 http://www.genome.jp/dbget-bin/www_bget?KO:K15085 MIM 610823 http://www.ncbi.nlm.nih.gov/omim/610823 OMA EYSGRPQ http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=EYSGRPQ OrthoDB EOG091G0C8S http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0C8S PRINTS PR00926 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00926 PRINTS PR00928 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00928 PROSITE PS50920 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50920 PSORT swissprot:S2542_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S2542_HUMAN PSORT-B swissprot:S2542_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S2542_HUMAN PSORT2 swissprot:S2542_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S2542_HUMAN Pfam PF00153 http://pfam.xfam.org/family/PF00153 PharmGKB PA162403703 http://www.pharmgkb.org/do/serve?objId=PA162403703&objCls=Gene Phobius swissprot:S2542_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S2542_HUMAN PhylomeDB Q86VD7 http://phylomedb.org/?seqid=Q86VD7 ProteinModelPortal Q86VD7 http://www.proteinmodelportal.org/query/uniprot/Q86VD7 PubMed 15057824 http://www.ncbi.nlm.nih.gov/pubmed/15057824 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16949250 http://www.ncbi.nlm.nih.gov/pubmed/16949250 PubMed 19429682 http://www.ncbi.nlm.nih.gov/pubmed/19429682 RefSeq NP_001308473 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001308473 RefSeq NP_848621 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_848621 RefSeq XP_005259918 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005259918 RefSeq XP_011526239 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011526239 SMR Q86VD7 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q86VD7 STRING 9606.ENSP00000326693 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000326693&targetmode=cogs SUPFAM SSF103506 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103506 TCDB 2.A.29.12 http://www.tcdb.org/search/result.php?tc=2.A.29.12 UCSC uc002nlf http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002nlf&org=rat UniGene Hs.303669 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.303669 UniProtKB S2542_HUMAN http://www.uniprot.org/uniprot/S2542_HUMAN UniProtKB-AC Q86VD7 http://www.uniprot.org/uniprot/Q86VD7 charge swissprot:S2542_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S2542_HUMAN eggNOG ENOG410ZRF1 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410ZRF1 eggNOG KOG0752 http://eggnogapi.embl.de/nog_data/html/tree/KOG0752 epestfind swissprot:S2542_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S2542_HUMAN garnier swissprot:S2542_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S2542_HUMAN helixturnhelix swissprot:S2542_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S2542_HUMAN hmoment swissprot:S2542_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S2542_HUMAN iep swissprot:S2542_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S2542_HUMAN inforesidue swissprot:S2542_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S2542_HUMAN neXtProt NX_Q86VD7 http://www.nextprot.org/db/entry/NX_Q86VD7 octanol swissprot:S2542_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S2542_HUMAN pepcoil swissprot:S2542_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S2542_HUMAN pepdigest swissprot:S2542_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S2542_HUMAN pepinfo swissprot:S2542_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S2542_HUMAN pepnet swissprot:S2542_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S2542_HUMAN pepstats swissprot:S2542_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S2542_HUMAN pepwheel swissprot:S2542_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S2542_HUMAN pepwindow swissprot:S2542_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S2542_HUMAN sigcleave swissprot:S2542_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S2542_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS HVCN1_HUMAN Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q96D96-1; Sequence=Displayed; Name=2; IsoId=Q96D96-2; Sequence=VSP_034395; Name=3; IsoId=Q96D96-3; Sequence=VSP_034396; Note=No experimental confirmation available.; Name=4; IsoId=Q96D96-4; Sequence=VSP_045052; Note=No experimental confirmation available.; # AltName HVCN1_HUMAN Hydrogen voltage-gated channel 1 # AltName HVCN1_HUMAN Voltage sensor domain-only protein # BioGrid 124053 8 # CCDS CCDS31900 -. [Q96D96-1] # CCDS CCDS58278 -. [Q96D96-4] # ChiTaRS HVCN1 human # DOMAIN HVCN1_HUMAN The C-terminal coiled coil region mediates homodimerization and cooperative channel gating. It is essential for normal subcellular localization. {ECO 0000269|PubMed 20147290}. # DOMAIN HVCN1_HUMAN The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position. Unlike other voltage-gated ion channels it lacks the pore domain. {ECO 0000269|PubMed 20147290}. # ENZYME REGULATION HVCN1_HUMAN The dimers display cooperative channel gating (By similarity). The channel activity is inhibited by zinc ions. {ECO 0000250, ECO 0000269|PubMed 16554753, ECO 0000269|PubMed 22020278}. # Ensembl ENST00000242607 ENSP00000242607; ENSG00000122986. [Q96D96-1] # Ensembl ENST00000356742 ENSP00000349181; ENSG00000122986. [Q96D96-1] # Ensembl ENST00000439744 ENSP00000412052; ENSG00000122986. [Q96D96-4] # Ensembl ENST00000548312 ENSP00000449601; ENSG00000122986. [Q96D96-3] # Ensembl ENST00000620084 ENSP00000479812; ENSG00000122986. [Q96D96-1] # ExpressionAtlas Q96D96 baseline and differential # FUNCTION HVCN1_HUMAN Mediates the voltage-dependent proton permeability of excitable membranes. Forms a proton-selective channel through which protons may pass in accordance with their electrochemical gradient. Proton efflux, accompanied by membrane depolarization, facilitates acute production of reactive oxygen species in phagocytosis. {ECO 0000269|PubMed 16554753, ECO 0000269|PubMed 20037153, ECO 0000269|PubMed 22020278}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; IDA:HGNC. # GO_function GO:0022843 voltage-gated cation channel activity; TAS:Reactome. # GO_function GO:0030171 voltage-gated proton channel activity; IDA:UniProtKB. # GO_process GO:0009268 response to pH; ISS:HGNC. # GO_process GO:0010043 response to zinc ion; IDA:HGNC. # GO_process GO:0015992 proton transport; IDA:UniProtKB. # GO_process GO:0035036 sperm-egg recognition; TAS:Reactome. # GO_process GO:0071294 cellular response to zinc ion; IDA:UniProtKB. # GO_process GO:0071467 cellular response to pH; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # Gene3D 1.20.120.350 -; 1. # Genevisible Q96D96 HS # HGNC HGNC:28240 HVCN1 # InterPro IPR005821 Ion_trans_dom # InterPro IPR027359 Channel_four-helix_dom # InterPro IPR031844 VGPC1_C # MIM 611227 gene # Organism HVCN1_HUMAN Homo sapiens (Human) # PDB 3A2A X-ray; 2.00 A; A/B/C/D=221-273 # PTM HVCN1_HUMAN Phosphorylation may enhance channel gating. {ECO 0000269|PubMed 20037153}. # Pfam PF00520 Ion_trans # Pfam PF16799 VGPC1_C # Proteomes UP000005640 Chromosome 12 # Reactome R-HSA-1300642 Sperm Motility And Taxes # Reactome R-HSA-6798695 Neutrophil degranulation # RecName HVCN1_HUMAN Voltage-gated hydrogen channel 1 # RefSeq NP_001035196 NM_001040107.1. [Q96D96-1] # RefSeq NP_001243342 NM_001256413.1. [Q96D96-4] # RefSeq NP_115745 NM_032369.3. [Q96D96-1] # RefSeq XP_005254005 XM_005253948.2. [Q96D96-1] # RefSeq XP_011537147 XM_011538845.1. [Q96D96-1] # RefSeq XP_011537148 XM_011538846.2. [Q96D96-1] # RefSeq XP_011537149 XM_011538847.1. [Q96D96-1] # RefSeq XP_016875516 XM_017020027.1. [Q96D96-1] # SEQUENCE CAUTION Sequence=AAQ89413.1; Type=Frameshift; Positions=164, 175; Evidence={ECO 0000305}; # SIMILARITY Belongs to the hydrogen channel family. {ECO 0000305}. # SUBCELLULAR LOCATION HVCN1_HUMAN Membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. Note=Detected mainly at intracellular membranes upon overexpression in HeLa cells (PuMed 20147290), but not in other cell types. # SUBUNIT Homodimer. {ECO:0000269|PubMed 20147290}. # TCDB 1.A.51.1 the voltage-gated proton channel (vpc) family # TISSUE SPECIFICITY Enriched in immune tissues, such as lymph nodes, B-lymphocytes, monocytes and spleen. {ECO:0000269|PubMed 16554753}. # UCSC uc001trq human. [Q96D96-1] # eggNOG ENOG410IKBG Eukaryota # eggNOG ENOG4111XHU LUCA BLAST swissprot:HVCN1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:HVCN1_HUMAN BioCyc ZFISH:ENSG00000122986-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000122986-MONOMER COXPRESdb 84329 http://coxpresdb.jp/data/gene/84329.shtml CleanEx HS_HVCN1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_HVCN1 DIP DIP-46112N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-46112N DOI 10.1038/nature04569 http://dx.doi.org/10.1038/nature04569 DOI 10.1038/nature04700 http://dx.doi.org/10.1038/nature04700 DOI 10.1038/nature10557 http://dx.doi.org/10.1038/nature10557 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.C109.082727 http://dx.doi.org/10.1074/jbc.C109.082727 DOI 10.1074/jbc.M109.040360 http://dx.doi.org/10.1074/jbc.M109.040360 DOI 10.1101/gr.1293003 http://dx.doi.org/10.1101/gr.1293003 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AC144522 http://www.ebi.ac.uk/ena/data/view/AC144522 EMBL AK293543 http://www.ebi.ac.uk/ena/data/view/AK293543 EMBL AY359054 http://www.ebi.ac.uk/ena/data/view/AY359054 EMBL BC007277 http://www.ebi.ac.uk/ena/data/view/BC007277 EMBL BC009731 http://www.ebi.ac.uk/ena/data/view/BC009731 EMBL BC032672 http://www.ebi.ac.uk/ena/data/view/BC032672 EMBL CH471054 http://www.ebi.ac.uk/ena/data/view/CH471054 EMBL CH471054 http://www.ebi.ac.uk/ena/data/view/CH471054 Ensembl ENST00000242607 http://www.ensembl.org/id/ENST00000242607 Ensembl ENST00000356742 http://www.ensembl.org/id/ENST00000356742 Ensembl ENST00000439744 http://www.ensembl.org/id/ENST00000439744 Ensembl ENST00000548312 http://www.ensembl.org/id/ENST00000548312 Ensembl ENST00000620084 http://www.ensembl.org/id/ENST00000620084 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0022843 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022843 GO_function GO:0030171 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030171 GO_process GO:0009268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009268 GO_process GO:0010043 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010043 GO_process GO:0015992 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015992 GO_process GO:0035036 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035036 GO_process GO:0071294 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071294 GO_process GO:0071467 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071467 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 Gene3D 1.20.120.350 http://www.cathdb.info/version/latest/superfamily/1.20.120.350 GeneCards HVCN1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=HVCN1 GeneID 84329 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=84329 GeneTree ENSGT00530000063670 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000063670 H-InvDB HIX0011039 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0011039 HGNC HGNC:28240 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:28240 HOGENOM HOG000067871 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000067871&db=HOGENOM6 HOVERGEN HBG102207 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG102207&db=HOVERGEN HPA HPA039329 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA039329 InParanoid Q96D96 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q96D96 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR027359 http://www.ebi.ac.uk/interpro/entry/IPR027359 InterPro IPR031844 http://www.ebi.ac.uk/interpro/entry/IPR031844 Jabion 84329 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=84329 KEGG_Gene hsa:84329 http://www.genome.jp/dbget-bin/www_bget?hsa:84329 MIM 611227 http://www.ncbi.nlm.nih.gov/omim/611227 MINT MINT-4724965 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-4724965 OMA RMSKFLK http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=RMSKFLK OrthoDB EOG091G0L8G http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0L8G PDB 3A2A http://www.ebi.ac.uk/pdbe-srv/view/entry/3A2A PDBsum 3A2A http://www.ebi.ac.uk/pdbsum/3A2A PSORT swissprot:HVCN1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:HVCN1_HUMAN PSORT-B swissprot:HVCN1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:HVCN1_HUMAN PSORT2 swissprot:HVCN1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:HVCN1_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF16799 http://pfam.xfam.org/family/PF16799 PharmGKB PA144596422 http://www.pharmgkb.org/do/serve?objId=PA144596422&objCls=Gene Phobius swissprot:HVCN1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:HVCN1_HUMAN PhylomeDB Q96D96 http://phylomedb.org/?seqid=Q96D96 ProteinModelPortal Q96D96 http://www.proteinmodelportal.org/query/uniprot/Q96D96 PubMed 12975309 http://www.ncbi.nlm.nih.gov/pubmed/12975309 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16541075 http://www.ncbi.nlm.nih.gov/pubmed/16541075 PubMed 16554753 http://www.ncbi.nlm.nih.gov/pubmed/16554753 PubMed 20037153 http://www.ncbi.nlm.nih.gov/pubmed/20037153 PubMed 20147290 http://www.ncbi.nlm.nih.gov/pubmed/20147290 PubMed 22020278 http://www.ncbi.nlm.nih.gov/pubmed/22020278 Reactome R-HSA-1300642 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1300642 Reactome R-HSA-6798695 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6798695 RefSeq NP_001035196 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001035196 RefSeq NP_001243342 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001243342 RefSeq NP_115745 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_115745 RefSeq XP_005254005 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005254005 RefSeq XP_011537147 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011537147 RefSeq XP_011537148 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011537148 RefSeq XP_011537149 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011537149 RefSeq XP_016875516 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016875516 SMR Q96D96 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q96D96 STRING 9606.ENSP00000242607 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000242607&targetmode=cogs TCDB 1.A.51.1 http://www.tcdb.org/search/result.php?tc=1.A.51.1 UCSC uc001trq http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001trq&org=rat UniGene Hs.211511 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.211511 UniGene Hs.334637 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.334637 UniProtKB HVCN1_HUMAN http://www.uniprot.org/uniprot/HVCN1_HUMAN UniProtKB-AC Q96D96 http://www.uniprot.org/uniprot/Q96D96 charge swissprot:HVCN1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:HVCN1_HUMAN eggNOG ENOG410IKBG http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IKBG eggNOG ENOG4111XHU http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111XHU epestfind swissprot:HVCN1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:HVCN1_HUMAN garnier swissprot:HVCN1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:HVCN1_HUMAN helixturnhelix swissprot:HVCN1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:HVCN1_HUMAN hmoment swissprot:HVCN1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:HVCN1_HUMAN iep swissprot:HVCN1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:HVCN1_HUMAN inforesidue swissprot:HVCN1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:HVCN1_HUMAN neXtProt NX_Q96D96 http://www.nextprot.org/db/entry/NX_Q96D96 octanol swissprot:HVCN1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:HVCN1_HUMAN pepcoil swissprot:HVCN1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:HVCN1_HUMAN pepdigest swissprot:HVCN1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:HVCN1_HUMAN pepinfo swissprot:HVCN1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:HVCN1_HUMAN pepnet swissprot:HVCN1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:HVCN1_HUMAN pepstats swissprot:HVCN1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:HVCN1_HUMAN pepwheel swissprot:HVCN1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:HVCN1_HUMAN pepwindow swissprot:HVCN1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:HVCN1_HUMAN sigcleave swissprot:HVCN1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:HVCN1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S22AB_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NSA0-1; Sequence=Displayed; Name=2; IsoId=Q9NSA0-2; Sequence=VSP_018319; Note=No experimental confirmation available.; # AltName S22AB_HUMAN Organic anion transporter 4 # BioGrid 120967 3 # CCDS CCDS76425 -. [Q9NSA0-2] # CCDS CCDS8074 -. [Q9NSA0-1] # CDD cd06174 MFS # ChiTaRS SLC22A11 human # DrugBank DB00168 Aspartame # DrugBank DB00175 Pravastatin # DrugBank DB00254 Doxycycline # DrugBank DB00286 Conjugated Estrogens # DrugBank DB00328 Indomethacin # DrugBank DB00345 Aminohippurate # DrugBank DB00456 Cefalotin # DrugBank DB00493 Cefotaxime # DrugBank DB00495 Zidovudine # DrugBank DB00501 Cimetidine # DrugBank DB00554 Piroxicam # DrugBank DB00563 Methotrexate # DrugBank DB00586 Diclofenac # DrugBank DB00595 Oxytetracycline # DrugBank DB00695 Furosemide # DrugBank DB00759 Tetracycline # DrugBank DB00783 Estradiol # DrugBank DB00812 Phenylbutazone # DrugBank DB00887 Bumetanide # DrugBank DB00917 Dinoprostone # DrugBank DB00936 Salicylic acid # DrugBank DB01009 Ketoprofen # DrugBank DB01017 Minocycline # DrugBank DB01032 Probenecid # DrugBank DB01050 Ibuprofen # DrugBank DB01051 Novobiocin # DrugBank DB01053 Benzylpenicillin # DrugBank DB01160 Dinoprost Tromethamine # DrugBank DB01212 Ceftriaxone # DrugBank DB01326 Cefamandole # DrugBank DB01327 Cefazolin # DrugBank DB01329 Cefoperazone # Ensembl ENST00000301891 ENSP00000301891; ENSG00000168065. [Q9NSA0-1] # Ensembl ENST00000377585 ENSP00000366809; ENSG00000168065. [Q9NSA0-2] # ExpressionAtlas Q9NSA0 baseline and differential # FUNCTION S22AB_HUMAN Mediates saturable uptake of estrone sulfate, dehydroepiandrosterone sulfate and related compounds. {ECO 0000269|PubMed 10660625, ECO 0000269|PubMed 15102942, ECO 0000269|PubMed 15291761}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IDA:UniProtKB. # GO_component GO:0009897 external side of plasma membrane; IDA:UniProtKB. # GO_component GO:0016324 apical plasma membrane; IDA:UniProtKB. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0005452 inorganic anion exchanger activity; IDA:UniProtKB. # GO_function GO:0008514 organic anion transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0015347 sodium-independent organic anion transmembrane transporter activity; IDA:UniProtKB. # GO_process GO:0015711 organic anion transport; IDA:UniProtKB. # GO_process GO:0043252 sodium-independent organic anion transport; IBA:GO_Central. # GO_process GO:0046415 urate metabolic process; IMP:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0044281 small molecule metabolic process # Genevisible Q9NSA0 HS # HGNC HGNC:18120 SLC22A11 # InterPro IPR005828 MFS_sugar_transport-like # InterPro IPR020846 MFS_dom # KEGG_Brite ko02000 Transporters # KEGG_Brite ko02001 Solute carrier family # MIM 607097 gene # Organism S22AB_HUMAN Homo sapiens (Human) # PROSITE PS50850 MFS # PTM S22AB_HUMAN N-glycosylated. Contains several complex-type N-glycans. {ECO 0000269|PubMed 15576633}. # Pfam PF00083 Sugar_tr # Proteomes UP000005640 Chromosome 11 # Reactome R-HSA-561048 Organic anion transport # RecName S22AB_HUMAN Solute carrier family 22 member 11 # RefSeq NP_001294914 NM_001307985.1. [Q9NSA0-2] # RefSeq NP_060954 NM_018484.3. [Q9NSA0-1] # SEQUENCE CAUTION Sequence=BAC11483.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family. {ECO 0000305}. # SUBCELLULAR LOCATION S22AB_HUMAN Cell membrane {ECO 0000269|PubMed 15291761, ECO 0000269|PubMed 15576633}; Multi-pass membrane protein {ECO 0000269|PubMed 15291761, ECO 0000269|PubMed 15576633}. # SUPFAM SSF103473 SSF103473 # TCDB 2.A.1.19.10 the major facilitator superfamily (mfs) # TISSUE SPECIFICITY Detected in placenta and kidney. {ECO:0000269|PubMed 10660625}. # UCSC uc001oai human. [Q9NSA0-1] # eggNOG COG0477 LUCA # eggNOG KOG0255 Eukaryota BLAST swissprot:S22AB_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S22AB_HUMAN BioCyc ZFISH:ENSG00000168065-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000168065-MONOMER COXPRESdb 55867 http://coxpresdb.jp/data/gene/55867.shtml CleanEx HS_SLC22A11 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC22A11 DOI 10.1038/nature04632 http://dx.doi.org/10.1038/nature04632 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1042/BJ20040751 http://dx.doi.org/10.1042/BJ20040751 DOI 10.1074/jbc.275.6.4507 http://dx.doi.org/10.1074/jbc.275.6.4507 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1124/mol.104.007583 http://dx.doi.org/10.1124/mol.104.007583 DOI 10.1124/mol.65.5.1141 http://dx.doi.org/10.1124/mol.65.5.1141 DrugBank DB00168 http://www.drugbank.ca/drugs/DB00168 DrugBank DB00175 http://www.drugbank.ca/drugs/DB00175 DrugBank DB00254 http://www.drugbank.ca/drugs/DB00254 DrugBank DB00286 http://www.drugbank.ca/drugs/DB00286 DrugBank DB00328 http://www.drugbank.ca/drugs/DB00328 DrugBank DB00345 http://www.drugbank.ca/drugs/DB00345 DrugBank DB00456 http://www.drugbank.ca/drugs/DB00456 DrugBank DB00493 http://www.drugbank.ca/drugs/DB00493 DrugBank DB00495 http://www.drugbank.ca/drugs/DB00495 DrugBank DB00501 http://www.drugbank.ca/drugs/DB00501 DrugBank DB00554 http://www.drugbank.ca/drugs/DB00554 DrugBank DB00563 http://www.drugbank.ca/drugs/DB00563 DrugBank DB00586 http://www.drugbank.ca/drugs/DB00586 DrugBank DB00595 http://www.drugbank.ca/drugs/DB00595 DrugBank DB00695 http://www.drugbank.ca/drugs/DB00695 DrugBank DB00759 http://www.drugbank.ca/drugs/DB00759 DrugBank DB00783 http://www.drugbank.ca/drugs/DB00783 DrugBank DB00812 http://www.drugbank.ca/drugs/DB00812 DrugBank DB00887 http://www.drugbank.ca/drugs/DB00887 DrugBank DB00917 http://www.drugbank.ca/drugs/DB00917 DrugBank DB00936 http://www.drugbank.ca/drugs/DB00936 DrugBank DB01009 http://www.drugbank.ca/drugs/DB01009 DrugBank DB01017 http://www.drugbank.ca/drugs/DB01017 DrugBank DB01032 http://www.drugbank.ca/drugs/DB01032 DrugBank DB01050 http://www.drugbank.ca/drugs/DB01050 DrugBank DB01051 http://www.drugbank.ca/drugs/DB01051 DrugBank DB01053 http://www.drugbank.ca/drugs/DB01053 DrugBank DB01160 http://www.drugbank.ca/drugs/DB01160 DrugBank DB01212 http://www.drugbank.ca/drugs/DB01212 DrugBank DB01326 http://www.drugbank.ca/drugs/DB01326 DrugBank DB01327 http://www.drugbank.ca/drugs/DB01327 DrugBank DB01329 http://www.drugbank.ca/drugs/DB01329 EMBL AB026116 http://www.ebi.ac.uk/ena/data/view/AB026116 EMBL AC044790 http://www.ebi.ac.uk/ena/data/view/AC044790 EMBL AK075224 http://www.ebi.ac.uk/ena/data/view/AK075224 EMBL AK129930 http://www.ebi.ac.uk/ena/data/view/AK129930 EMBL AK222869 http://www.ebi.ac.uk/ena/data/view/AK222869 EMBL AK290791 http://www.ebi.ac.uk/ena/data/view/AK290791 EMBL BC034384 http://www.ebi.ac.uk/ena/data/view/BC034384 EMBL CH471076 http://www.ebi.ac.uk/ena/data/view/CH471076 Ensembl ENST00000301891 http://www.ensembl.org/id/ENST00000301891 Ensembl ENST00000377585 http://www.ensembl.org/id/ENST00000377585 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0009897 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009897 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0005452 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005452 GO_function GO:0008514 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008514 GO_function GO:0015347 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015347 GO_process GO:0015711 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015711 GO_process GO:0043252 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043252 GO_process GO:0046415 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046415 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GeneCards SLC22A11 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC22A11 GeneID 55867 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=55867 GeneTree ENSGT00760000118852 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118852 HGNC HGNC:18120 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:18120 HOGENOM HOG000234569 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000234569&db=HOGENOM6 HOVERGEN HBG108433 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG108433&db=HOVERGEN HPA HPA026076 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA026076 InParanoid Q9NSA0 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9NSA0 InterPro IPR005828 http://www.ebi.ac.uk/interpro/entry/IPR005828 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 55867 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=55867 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:55867 http://www.genome.jp/dbget-bin/www_bget?hsa:55867 KEGG_Orthology KO:K08207 http://www.genome.jp/dbget-bin/www_bget?KO:K08207 MIM 607097 http://www.ncbi.nlm.nih.gov/omim/607097 OMA CLVIPSQ http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=CLVIPSQ OrthoDB EOG091G05EB http://cegg.unige.ch/orthodb/results?searchtext=EOG091G05EB PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PSORT swissprot:S22AB_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S22AB_HUMAN PSORT-B swissprot:S22AB_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S22AB_HUMAN PSORT2 swissprot:S22AB_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S22AB_HUMAN Pfam PF00083 http://pfam.xfam.org/family/PF00083 PharmGKB PA38295 http://www.pharmgkb.org/do/serve?objId=PA38295&objCls=Gene Phobius swissprot:S22AB_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S22AB_HUMAN PhylomeDB Q9NSA0 http://phylomedb.org/?seqid=Q9NSA0 ProteinModelPortal Q9NSA0 http://www.proteinmodelportal.org/query/uniprot/Q9NSA0 PubMed 10660625 http://www.ncbi.nlm.nih.gov/pubmed/10660625 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15102942 http://www.ncbi.nlm.nih.gov/pubmed/15102942 PubMed 15291761 http://www.ncbi.nlm.nih.gov/pubmed/15291761 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15576633 http://www.ncbi.nlm.nih.gov/pubmed/15576633 PubMed 16554811 http://www.ncbi.nlm.nih.gov/pubmed/16554811 Reactome R-HSA-561048 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-561048 RefSeq NP_001294914 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001294914 RefSeq NP_060954 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_060954 STRING 9606.ENSP00000301891 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000301891&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.1.19.10 http://www.tcdb.org/search/result.php?tc=2.A.1.19.10 UCSC uc001oai http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001oai&org=rat UniGene Hs.220844 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.220844 UniGene Hs.657603 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.657603 UniProtKB S22AB_HUMAN http://www.uniprot.org/uniprot/S22AB_HUMAN UniProtKB-AC Q9NSA0 http://www.uniprot.org/uniprot/Q9NSA0 charge swissprot:S22AB_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S22AB_HUMAN eggNOG COG0477 http://eggnogapi.embl.de/nog_data/html/tree/COG0477 eggNOG KOG0255 http://eggnogapi.embl.de/nog_data/html/tree/KOG0255 epestfind swissprot:S22AB_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S22AB_HUMAN garnier swissprot:S22AB_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S22AB_HUMAN helixturnhelix swissprot:S22AB_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S22AB_HUMAN hmoment swissprot:S22AB_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S22AB_HUMAN iep swissprot:S22AB_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S22AB_HUMAN inforesidue swissprot:S22AB_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S22AB_HUMAN neXtProt NX_Q9NSA0 http://www.nextprot.org/db/entry/NX_Q9NSA0 octanol swissprot:S22AB_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S22AB_HUMAN pepcoil swissprot:S22AB_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S22AB_HUMAN pepdigest swissprot:S22AB_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S22AB_HUMAN pepinfo swissprot:S22AB_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S22AB_HUMAN pepnet swissprot:S22AB_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S22AB_HUMAN pepstats swissprot:S22AB_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S22AB_HUMAN pepwheel swissprot:S22AB_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S22AB_HUMAN pepwindow swissprot:S22AB_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S22AB_HUMAN sigcleave swissprot:S22AB_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S22AB_HUMAN ## Database ID URL or Descriptions # DOMAIN AQ12A_HUMAN Aquaporins contain two tandem repeats each containing three membrane-spanning domains and a pore-forming loop with the signature motif Asn-Pro-Ala (NPA). # Ensembl ENST00000337801 ENSP00000337144; ENSG00000184945 # ExpressionAtlas Q8IXF9 baseline and differential # FUNCTION AQ12A_HUMAN Aquaporins facilitate the transport of water and small neutral solutes across cell membranes. {ECO 0000250}. # GO_component GO:0005886 plasma membrane; IBA:GO_Central. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0015250 water channel activity; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # Gene3D 1.20.1080.10 -; 1. # Genevisible Q8IXF9 HS # HGNC HGNC:19941 AQP12A # InterPro IPR000425 MIP # InterPro IPR016697 Aquaporin_11/12 # InterPro IPR023265 Aquaporin_12 # InterPro IPR023271 Aquaporin-like # KEGG_Brite ko04040 Ion channels # MIM 609789 gene # Organism AQ12A_HUMAN Homo sapiens (Human) # PANTHER PTHR21191:SF8 PTHR21191:SF8 # PIRSF PIRSF017529 Aquaporin_11/12 # PRINTS PR00783 MINTRINSICP # PRINTS PR02025 AQUAPORIN12 # Pfam PF00230 MIP # Proteomes UP000005640 Chromosome 2 # Reactome R-HSA-432047 Passive transport by Aquaporins # RecName AQ12A_HUMAN Aquaporin-12A # RefSeq NP_945349 NM_198998.2 # SIMILARITY Belongs to the MIP/aquaporin (TC 1.A.8) family. AQP11/AQP12 subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION AQ12A_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # SUPFAM SSF81338 SSF81338 # TCDB 1.A.8.17 the major intrinsic protein (mip) family # TISSUE SPECIFICITY Restricted to the pancreas. {ECO 0000269|Ref.2}. # UCSC uc002vzu human # eggNOG ENOG410IJA3 Eukaryota # eggNOG ENOG4111GCP LUCA BLAST swissprot:AQ12A_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:AQ12A_HUMAN BioCyc ZFISH:G66-32288-MONOMER http://biocyc.org/getid?id=ZFISH:G66-32288-MONOMER COXPRESdb 375318 http://coxpresdb.jp/data/gene/375318.shtml CleanEx HS_AQP12A http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_AQP12A DOI 10.1016/j.bbrc.2005.03.046 http://dx.doi.org/10.1016/j.bbrc.2005.03.046 EMBL AB040748 http://www.ebi.ac.uk/ena/data/view/AB040748 Ensembl ENST00000337801 http://www.ensembl.org/id/ENST00000337801 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0015250 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015250 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 Gene3D 1.20.1080.10 http://www.cathdb.info/version/latest/superfamily/1.20.1080.10 GeneCards AQP12A http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=AQP12A GeneID 375318 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=375318 GeneTree ENSGT00530000063816 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000063816 H-InvDB HIX0024040 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0024040 HGNC HGNC:19941 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:19941 HOGENOM HOG000034023 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000034023&db=HOGENOM6 HOVERGEN HBG050557 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050557&db=HOVERGEN HPA HPA042216 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA042216 InParanoid Q8IXF9 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8IXF9 InterPro IPR000425 http://www.ebi.ac.uk/interpro/entry/IPR000425 InterPro IPR016697 http://www.ebi.ac.uk/interpro/entry/IPR016697 InterPro IPR023265 http://www.ebi.ac.uk/interpro/entry/IPR023265 InterPro IPR023271 http://www.ebi.ac.uk/interpro/entry/IPR023271 Jabion 375318 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=375318 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:375318 http://www.genome.jp/dbget-bin/www_bget?hsa:375318 KEGG_Orthology KO:K09871 http://www.genome.jp/dbget-bin/www_bget?KO:K09871 MIM 609789 http://www.ncbi.nlm.nih.gov/omim/609789 PANTHER PTHR21191:SF8 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR21191:SF8 PRINTS PR00783 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00783 PRINTS PR02025 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR02025 PSORT swissprot:AQ12A_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:AQ12A_HUMAN PSORT-B swissprot:AQ12A_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:AQ12A_HUMAN PSORT2 swissprot:AQ12A_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:AQ12A_HUMAN Pfam PF00230 http://pfam.xfam.org/family/PF00230 PharmGKB PA134977417 http://www.pharmgkb.org/do/serve?objId=PA134977417&objCls=Gene Phobius swissprot:AQ12A_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:AQ12A_HUMAN PhylomeDB Q8IXF9 http://phylomedb.org/?seqid=Q8IXF9 ProteinModelPortal Q8IXF9 http://www.proteinmodelportal.org/query/uniprot/Q8IXF9 PubMed 15809071 http://www.ncbi.nlm.nih.gov/pubmed/15809071 Reactome R-HSA-432047 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-432047 RefSeq NP_945349 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_945349 STRING 9606.ENSP00000337144 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000337144&targetmode=cogs SUPFAM SSF81338 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81338 TCDB 1.A.8.17 http://www.tcdb.org/search/result.php?tc=1.A.8.17 UCSC uc002vzu http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002vzu&org=rat UniGene Hs.534650 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.534650 UniProtKB AQ12A_HUMAN http://www.uniprot.org/uniprot/AQ12A_HUMAN UniProtKB-AC Q8IXF9 http://www.uniprot.org/uniprot/Q8IXF9 charge swissprot:AQ12A_HUMAN http://rest.g-language.org/emboss/charge/swissprot:AQ12A_HUMAN eggNOG ENOG410IJA3 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IJA3 eggNOG ENOG4111GCP http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111GCP epestfind swissprot:AQ12A_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:AQ12A_HUMAN garnier swissprot:AQ12A_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:AQ12A_HUMAN helixturnhelix swissprot:AQ12A_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:AQ12A_HUMAN hmoment swissprot:AQ12A_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:AQ12A_HUMAN iep swissprot:AQ12A_HUMAN http://rest.g-language.org/emboss/iep/swissprot:AQ12A_HUMAN inforesidue swissprot:AQ12A_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:AQ12A_HUMAN neXtProt NX_Q8IXF9 http://www.nextprot.org/db/entry/NX_Q8IXF9 octanol swissprot:AQ12A_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:AQ12A_HUMAN pepcoil swissprot:AQ12A_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:AQ12A_HUMAN pepdigest swissprot:AQ12A_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:AQ12A_HUMAN pepinfo swissprot:AQ12A_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:AQ12A_HUMAN pepnet swissprot:AQ12A_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:AQ12A_HUMAN pepstats swissprot:AQ12A_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:AQ12A_HUMAN pepwheel swissprot:AQ12A_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:AQ12A_HUMAN pepwindow swissprot:AQ12A_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:AQ12A_HUMAN sigcleave swissprot:AQ12A_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:AQ12A_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS Event=Alternative splicing; Named isoforms=2; Name=Alpha-1B-1; IsoId=Q00975-1; Sequence=Displayed; Name=Alpha-1B-2; IsoId=Q00975-2; Sequence=VSP_000882; Note=Ref.1 (AAA51898) sequence is in conflict in position: 2215 L->R. {ECO:0000305}; # AltName CAC1B_HUMAN Brain calcium channel III # AltName CAC1B_HUMAN Calcium channel, L type, alpha-1 polypeptide isoform 5 # AltName CAC1B_HUMAN Voltage-gated calcium channel subunit alpha Cav2.2 # BioGrid 107228 7 # CCDS CCDS59522 -. [Q00975-1] # CCDS CCDS59523 -. [Q00975-2] # ChiTaRS CACNA1B human # DISEASE CAC1B_HUMAN Dystonia 23 (DYT23) [MIM 614860] A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT23 is an autosomal dominant dystonia affecting the face, neck, limbs. Some DYT23 patients manifest generalized myoclonus in addition to progressive action-induced multifocal dystonia. {ECO 0000269|PubMed 25296916}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DOMAIN CAC1B_HUMAN Each of the four internal repeats contains five hydrophobic transmembrane segments (S1, S2, S3, S5, S6) and one positively charged transmembrane segment (S4). S4 segments probably represent the voltage-sensor and are characterized by a series of positively charged amino acids at every third position. # DrugBank DB00381 Amlodipine # DrugBank DB00421 Spironolactone # DrugBank DB00661 Verapamil # DrugBank DB00996 Gabapentin # DrugBank DB01202 Levetiracetam # Ensembl ENST00000277551 ENSP00000277551; ENSG00000148408. [Q00975-2] # Ensembl ENST00000371372 ENSP00000360423; ENSG00000148408. [Q00975-1] # ExpressionAtlas Q00975 baseline and differential # FUNCTION CAC1B_HUMAN Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1B gives rise to N-type calcium currents. N-type calcium channels belong to the 'high-voltage activated' (HVA) group and are blocked by omega-conotoxin-GVIA (omega-CTx-GVIA) and by omega-agatoxin- IIIA (omega-Aga-IIIA). They are however insensitive to dihydropyridines (DHP), and omega-agatoxin-IVA (omega-Aga-IVA). Calcium channels containing alpha-1B subunit may play a role in directed migration of immature neurons. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005891 voltage-gated calcium channel complex; TAS:ProtInc. # GO_component GO:0030425 dendrite; IEA:Ensembl. # GO_component GO:0043025 neuronal cell body; IEA:Ensembl. # GO_component GO:0098793 presynapse; IEA:GOC. # GO_function GO:0005245 voltage-gated calcium channel activity; TAS:ProtInc. # GO_function GO:0005262 calcium channel activity; TAS:Reactome. # GO_function GO:0005509 calcium ion binding; IEA:InterPro. # GO_function GO:0005524 ATP binding; IEA:UniProtKB-KW. # GO_function GO:0008022 protein C-terminus binding; IPI:UniProtKB. # GO_function GO:0008331 high voltage-gated calcium channel activity; IBA:GO_Central. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0007268 chemical synaptic transmission; TAS:ProtInc. # GO_process GO:0007269 neurotransmitter secretion; IEA:Ensembl. # GO_process GO:0007626 locomotory behavior; IEA:Ensembl. # GO_process GO:0008016 regulation of heart contraction; IEA:Ensembl. # GO_process GO:0008217 regulation of blood pressure; IEA:Ensembl. # GO_process GO:0048265 response to pain; IEA:Ensembl. # GO_process GO:0051899 membrane depolarization; TAS:Reactome. # GO_process GO:0051924 regulation of calcium ion transport; IEA:Ensembl. # GO_process GO:0086010 membrane depolarization during action potential; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # Gene3D 1.20.120.350 -; 4. # Genevisible Q00975 HS # HGNC HGNC:1389 CACNA1B # INTERACTION CAC1B_HUMAN P20650 Ppm1a (xeno); NbExp=3; IntAct=EBI-1055161, EBI-7491743; P28702 RXRB; NbExp=3; IntAct=EBI-1055161, EBI-748576; # IntAct Q00975 7 # InterPro IPR002048 EF_hand_dom # InterPro IPR002077 VDCCAlpha1 # InterPro IPR005447 VDCC_N_a1su # InterPro IPR005821 Ion_trans_dom # InterPro IPR014873 VDCC_a1su_IQ # InterPro IPR027359 Channel_four-helix_dom # InterPro IPR031649 GPHH_dom # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04010 MAPK signaling pathway # KEGG_Pathway ko04020 Calcium signaling pathway # KEGG_Pathway ko04721 Synaptic vesicle cycle # KEGG_Pathway ko04723 Retrograde endocannabinoid signaling # KEGG_Pathway ko04725 Cholinergic synapse # KEGG_Pathway ko04726 Serotonergic synapse # KEGG_Pathway ko04727 GABAergic synapse # KEGG_Pathway ko04728 Dopaminergic synapse # KEGG_Pathway ko04742 Taste transduction # KEGG_Pathway ko04930 Type II diabetes mellitus # KEGG_Pathway ko05032 Morphine addiction # KEGG_Pathway ko05033 Nicotine addiction # MIM 601012 gene # MIM 614860 phenotype # Organism CAC1B_HUMAN Homo sapiens (Human) # PANTHER PTHR10037:SF161 PTHR10037:SF161; 3 # PDB 2LCM NMR; -; A=1242-1269 # PIR A42566 A42566 # PIR T45115 T45115 # PRINTS PR00167 CACHANNEL # PRINTS PR01631 NVDCCALPHA1 # PROSITE PS50222 EF_HAND_2 # PTM CAC1B_HUMAN Phosphorylated in vitro by CaM-kinase II, PKA, PKC and CGPK. {ECO 0000250}. # Pfam PF00520 Ion_trans; 4 # Pfam PF08763 Ca_chan_IQ # Pfam PF16905 GPHH # Proteomes UP000005640 Chromosome 9 # Reactome R-HSA-112308 Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels # RecName CAC1B_HUMAN Voltage-dependent N-type calcium channel subunit alpha-1B # RefSeq NP_000709 NM_000718.3. [Q00975-1] # RefSeq NP_001230741 NM_001243812.1. [Q00975-2] # SIMILARITY Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1B subfamily. {ECO 0000305}. # SIMILARITY Contains 1 EF-hand domain. {ECO:0000255|PROSITE- ProRule PRU00448}. # SMART SM01062 Ca_chan_IQ # SUBCELLULAR LOCATION CAC1B_HUMAN Membrane; Multi-pass membrane protein. # SUBUNIT CAC1B_HUMAN Multisubunit complex consisting of alpha-1, alpha-2, beta and delta subunits in a 1 1 1 1 ratio. The channel activity is directed by the pore-forming and voltage-sensitive alpha-1 subunit. In many cases, this subunit is sufficient to generate voltage-sensitive calcium channel activity. The auxiliary subunits beta and alpha-2/delta linked by a disulfide bridge regulate the channel activity. Interacts with RIMS1. Interacts with FMR1 (via C-terminus); this interaction induces a deacrease in the number of presynaptic functional CACNA1B channels at the cell surface. {ECO 0000250|UniProtKB O55017}. # TISSUE SPECIFICITY CAC1B_HUMAN Isoform Alpha-1b-1 and isoform Alpha-1b-2 are expressed in the central nervous system, but not in skeletal muscle or aorta. # UCSC uc064xny human. [Q00975-1] # eggNOG ENOG410XNP6 LUCA # eggNOG KOG2301 Eukaryota BLAST swissprot:CAC1B_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CAC1B_HUMAN BioCyc ZFISH:ENSG00000148408-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000148408-MONOMER COXPRESdb 774 http://coxpresdb.jp/data/gene/774.shtml CleanEx HS_CACNA1B http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CACNA1B DOI 10.1038/nature02465 http://dx.doi.org/10.1038/nature02465 DOI 10.1074/jbc.272.8.5098 http://dx.doi.org/10.1074/jbc.272.8.5098 DOI 10.1093/hmg/ddu513 http://dx.doi.org/10.1093/hmg/ddu513 DOI 10.1126/science.1321501 http://dx.doi.org/10.1126/science.1321501 DrugBank DB00381 http://www.drugbank.ca/drugs/DB00381 DrugBank DB00421 http://www.drugbank.ca/drugs/DB00421 DrugBank DB00661 http://www.drugbank.ca/drugs/DB00661 DrugBank DB00996 http://www.drugbank.ca/drugs/DB00996 DrugBank DB01202 http://www.drugbank.ca/drugs/DB01202 EMBL AL591424 http://www.ebi.ac.uk/ena/data/view/AL591424 EMBL AL591424 http://www.ebi.ac.uk/ena/data/view/AL591424 EMBL AL772363 http://www.ebi.ac.uk/ena/data/view/AL772363 EMBL AL772363 http://www.ebi.ac.uk/ena/data/view/AL772363 EMBL M94172 http://www.ebi.ac.uk/ena/data/view/M94172 EMBL M94173 http://www.ebi.ac.uk/ena/data/view/M94173 EMBL U76666 http://www.ebi.ac.uk/ena/data/view/U76666 Ensembl ENST00000277551 http://www.ensembl.org/id/ENST00000277551 Ensembl ENST00000371372 http://www.ensembl.org/id/ENST00000371372 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005891 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005891 GO_component GO:0030425 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030425 GO_component GO:0043025 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043025 GO_component GO:0098793 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0098793 GO_function GO:0005245 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005245 GO_function GO:0005262 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005262 GO_function GO:0005509 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005509 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0008022 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008022 GO_function GO:0008331 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008331 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0007268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007268 GO_process GO:0007269 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007269 GO_process GO:0007626 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007626 GO_process GO:0008016 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008016 GO_process GO:0008217 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008217 GO_process GO:0048265 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048265 GO_process GO:0051899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051899 GO_process GO:0051924 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051924 GO_process GO:0086010 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086010 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 Gene3D 1.20.120.350 http://www.cathdb.info/version/latest/superfamily/1.20.120.350 GeneCards CACNA1B http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CACNA1B GeneID 774 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=774 GeneTree ENSGT00830000128247 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00830000128247 HGNC HGNC:1389 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:1389 HOGENOM HOG000231530 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231530&db=HOGENOM6 HOVERGEN HBG050763 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050763&db=HOVERGEN HPA HPA044347 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA044347 InParanoid Q00975 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q00975 IntAct Q00975 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q00975* InterPro IPR002048 http://www.ebi.ac.uk/interpro/entry/IPR002048 InterPro IPR002077 http://www.ebi.ac.uk/interpro/entry/IPR002077 InterPro IPR005447 http://www.ebi.ac.uk/interpro/entry/IPR005447 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR014873 http://www.ebi.ac.uk/interpro/entry/IPR014873 InterPro IPR027359 http://www.ebi.ac.uk/interpro/entry/IPR027359 InterPro IPR031649 http://www.ebi.ac.uk/interpro/entry/IPR031649 Jabion 774 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=774 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:774 http://www.genome.jp/dbget-bin/www_bget?hsa:774 KEGG_Orthology KO:K04849 http://www.genome.jp/dbget-bin/www_bget?KO:K04849 KEGG_Pathway ko04010 http://www.genome.jp/kegg-bin/show_pathway?ko04010 KEGG_Pathway ko04020 http://www.genome.jp/kegg-bin/show_pathway?ko04020 KEGG_Pathway ko04721 http://www.genome.jp/kegg-bin/show_pathway?ko04721 KEGG_Pathway ko04723 http://www.genome.jp/kegg-bin/show_pathway?ko04723 KEGG_Pathway ko04725 http://www.genome.jp/kegg-bin/show_pathway?ko04725 KEGG_Pathway ko04726 http://www.genome.jp/kegg-bin/show_pathway?ko04726 KEGG_Pathway ko04727 http://www.genome.jp/kegg-bin/show_pathway?ko04727 KEGG_Pathway ko04728 http://www.genome.jp/kegg-bin/show_pathway?ko04728 KEGG_Pathway ko04742 http://www.genome.jp/kegg-bin/show_pathway?ko04742 KEGG_Pathway ko04930 http://www.genome.jp/kegg-bin/show_pathway?ko04930 KEGG_Pathway ko05032 http://www.genome.jp/kegg-bin/show_pathway?ko05032 KEGG_Pathway ko05033 http://www.genome.jp/kegg-bin/show_pathway?ko05033 MIM 601012 http://www.ncbi.nlm.nih.gov/omim/601012 MIM 614860 http://www.ncbi.nlm.nih.gov/omim/614860 MINT MINT-102376 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-102376 PANTHER PTHR10037:SF161 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10037:SF161 PDB 2LCM http://www.ebi.ac.uk/pdbe-srv/view/entry/2LCM PDBsum 2LCM http://www.ebi.ac.uk/pdbsum/2LCM PRINTS PR00167 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00167 PRINTS PR01631 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01631 PROSITE PS50222 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50222 PSORT swissprot:CAC1B_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CAC1B_HUMAN PSORT-B swissprot:CAC1B_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CAC1B_HUMAN PSORT2 swissprot:CAC1B_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CAC1B_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF08763 http://pfam.xfam.org/family/PF08763 Pfam PF16905 http://pfam.xfam.org/family/PF16905 PharmGKB PA26008 http://www.pharmgkb.org/do/serve?objId=PA26008&objCls=Gene Phobius swissprot:CAC1B_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CAC1B_HUMAN PhylomeDB Q00975 http://phylomedb.org/?seqid=Q00975 ProteinModelPortal Q00975 http://www.proteinmodelportal.org/query/uniprot/Q00975 PubMed 1321501 http://www.ncbi.nlm.nih.gov/pubmed/1321501 PubMed 15164053 http://www.ncbi.nlm.nih.gov/pubmed/15164053 PubMed 25296916 http://www.ncbi.nlm.nih.gov/pubmed/25296916 PubMed 9030575 http://www.ncbi.nlm.nih.gov/pubmed/9030575 Reactome R-HSA-112308 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-112308 RefSeq NP_000709 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000709 RefSeq NP_001230741 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001230741 SMART SM01062 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM01062 SMR Q00975 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q00975 STRING 9606.ENSP00000360406 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000360406&targetmode=cogs UCSC uc064xny http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc064xny&org=rat UniGene Hs.495522 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.495522 UniProtKB CAC1B_HUMAN http://www.uniprot.org/uniprot/CAC1B_HUMAN UniProtKB-AC Q00975 http://www.uniprot.org/uniprot/Q00975 charge swissprot:CAC1B_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CAC1B_HUMAN eggNOG ENOG410XNP6 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XNP6 eggNOG KOG2301 http://eggnogapi.embl.de/nog_data/html/tree/KOG2301 epestfind swissprot:CAC1B_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CAC1B_HUMAN garnier swissprot:CAC1B_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CAC1B_HUMAN helixturnhelix swissprot:CAC1B_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CAC1B_HUMAN hmoment swissprot:CAC1B_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CAC1B_HUMAN iep swissprot:CAC1B_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CAC1B_HUMAN inforesidue swissprot:CAC1B_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CAC1B_HUMAN neXtProt NX_Q00975 http://www.nextprot.org/db/entry/NX_Q00975 octanol swissprot:CAC1B_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CAC1B_HUMAN pepcoil swissprot:CAC1B_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CAC1B_HUMAN pepdigest swissprot:CAC1B_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CAC1B_HUMAN pepinfo swissprot:CAC1B_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CAC1B_HUMAN pepnet swissprot:CAC1B_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CAC1B_HUMAN pepstats swissprot:CAC1B_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CAC1B_HUMAN pepwheel swissprot:CAC1B_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CAC1B_HUMAN pepwindow swissprot:CAC1B_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CAC1B_HUMAN sigcleave swissprot:CAC1B_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CAC1B_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S22A9_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8IVM8-1; Sequence=Displayed; Name=2; IsoId=Q8IVM8-2; Sequence=VSP_036710, VSP_036711; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; # AltName S22A9_HUMAN Organic anion transporter 7 # BioGrid 125322 65 # CCDS CCDS8043 -. [Q8IVM8-1] # CDD cd06174 MFS # DEVELOPMENTAL STAGE Expressed in fetal liver. {ECO:0000269|PubMed 17393504}. # Ensembl ENST00000279178 ENSP00000279178; ENSG00000149742. [Q8IVM8-1] # Ensembl ENST00000536333 ENSP00000440206; ENSG00000149742. [Q8IVM8-2] # FUNCTION S22A9_HUMAN Sodium-independent organic anion transporter which exhibits high specificity for sulfated conjugates of xenobiotics and steroid hormones. It is also specifically activated by 3 to 5 carbons-containing short-chain fatty acids/SCFAs, including propionate, butyrate and valerate. May operate the exchange of sulfated organic components against short-chain fatty acids/SCFAs at the sinusoidal membrane of hepatocytes. {ECO 0000269|PubMed 17393504}. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0016323 basolateral plasma membrane; IDA:UniProtKB. # GO_function GO:0005452 inorganic anion exchanger activity; IBA:GO_Central. # GO_function GO:0015347 sodium-independent organic anion transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0015636 short-chain fatty acid uptake transporter activity; IDA:UniProtKB. # GO_function S22A9_HUMAN GO 0015301 anion anion antiporter activity; IDA UniProtKB. # GO_process GO:0009914 hormone transport; IDA:UniProtKB. # GO_process GO:0015913 short-chain fatty acid import; IDA:UniProtKB. # GO_process GO:0043252 sodium-independent organic anion transport; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # Genevisible Q8IVM8 HS # HGNC HGNC:16261 SLC22A9 # InterPro IPR011701 MFS # InterPro IPR020846 MFS_dom # KEGG_Brite ko02000 Transporters # KEGG_Brite ko02001 Solute carrier family # MIM 607579 gene # Organism S22A9_HUMAN Homo sapiens (Human) # PROSITE PS50850 MFS # Pfam PF07690 MFS_1 # Proteomes UP000005640 Chromosome 11 # RecName S22A9_HUMAN Solute carrier family 22 member 9 # RefSeq NP_543142 NM_080866.2. [Q8IVM8-1] # SIMILARITY Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family. {ECO 0000305}. # SUBCELLULAR LOCATION S22A9_HUMAN Basolateral cell membrane {ECO 0000269|PubMed 17393504}; Multi-pass membrane protein {ECO 0000269|PubMed 17393504}. Note=Enriched at the sinusoidal part of the plasma membrane. # SUPFAM SSF103473 SSF103473 # TCDB 2.A.1.19.18 the major facilitator superfamily (mfs) # TISSUE SPECIFICITY S22A9_HUMAN Specifically expressed in liver by hepatocytes (at protein level). {ECO 0000269|PubMed 11327718, ECO 0000269|PubMed 17393504}. # UCSC uc001nww human. [Q8IVM8-1] # eggNOG COG0477 LUCA # eggNOG KOG0255 Eukaryota BLAST swissprot:S22A9_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S22A9_HUMAN COXPRESdb 114571 http://coxpresdb.jp/data/gene/114571.shtml CleanEx HS_SLC22A9 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC22A9 DOI 10.1002/hep.21596 http://dx.doi.org/10.1002/hep.21596 DOI 10.1006/bbrc.2001.4774 http://dx.doi.org/10.1006/bbrc.2001.4774 DOI 10.1038/nature04632 http://dx.doi.org/10.1038/nature04632 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1133427 http://dx.doi.org/10.1126/science.1133427 EMBL AB062418 http://www.ebi.ac.uk/ena/data/view/AB062418 EMBL AB074812 http://www.ebi.ac.uk/ena/data/view/AB074812 EMBL AF440402 http://www.ebi.ac.uk/ena/data/view/AF440402 EMBL AJ295270 http://www.ebi.ac.uk/ena/data/view/AJ295270 EMBL AK074246 http://www.ebi.ac.uk/ena/data/view/AK074246 EMBL AP000484 http://www.ebi.ac.uk/ena/data/view/AP000484 EMBL AP001880 http://www.ebi.ac.uk/ena/data/view/AP001880 EMBL BC022379 http://www.ebi.ac.uk/ena/data/view/BC022379 EMBL BC126288 http://www.ebi.ac.uk/ena/data/view/BC126288 EMBL CH471076 http://www.ebi.ac.uk/ena/data/view/CH471076 EMBL CH471076 http://www.ebi.ac.uk/ena/data/view/CH471076 Ensembl ENST00000279178 http://www.ensembl.org/id/ENST00000279178 Ensembl ENST00000536333 http://www.ensembl.org/id/ENST00000536333 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016323 GO_function GO:0005452 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005452 GO_function GO:0015301 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015301 GO_function GO:0015347 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015347 GO_function GO:0015636 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015636 GO_process GO:0009914 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009914 GO_process GO:0015913 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015913 GO_process GO:0043252 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043252 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GeneCards SLC22A9 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC22A9 GeneID 114571 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=114571 GeneTree ENSGT00760000118852 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118852 HGNC HGNC:16261 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:16261 HOGENOM HOG000234569 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000234569&db=HOGENOM6 HOVERGEN HBG108433 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG108433&db=HOVERGEN InParanoid Q8IVM8 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8IVM8 InterPro IPR011701 http://www.ebi.ac.uk/interpro/entry/IPR011701 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 114571 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=114571 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:114571 http://www.genome.jp/dbget-bin/www_bget?hsa:114571 KEGG_Orthology KO:K08206 http://www.genome.jp/dbget-bin/www_bget?KO:K08206 MIM 607579 http://www.ncbi.nlm.nih.gov/omim/607579 OMA CKRISLL http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=CKRISLL OrthoDB EOG091G04GS http://cegg.unige.ch/orthodb/results?searchtext=EOG091G04GS PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PSORT swissprot:S22A9_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S22A9_HUMAN PSORT-B swissprot:S22A9_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S22A9_HUMAN PSORT2 swissprot:S22A9_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S22A9_HUMAN Pfam PF07690 http://pfam.xfam.org/family/PF07690 PharmGKB PA38102 http://www.pharmgkb.org/do/serve?objId=PA38102&objCls=Gene Phobius swissprot:S22A9_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S22A9_HUMAN PhylomeDB Q8IVM8 http://phylomedb.org/?seqid=Q8IVM8 ProteinModelPortal Q8IVM8 http://www.proteinmodelportal.org/query/uniprot/Q8IVM8 PubMed 11327718 http://www.ncbi.nlm.nih.gov/pubmed/11327718 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16554811 http://www.ncbi.nlm.nih.gov/pubmed/16554811 PubMed 16959974 http://www.ncbi.nlm.nih.gov/pubmed/16959974 PubMed 17393504 http://www.ncbi.nlm.nih.gov/pubmed/17393504 RefSeq NP_543142 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_543142 STRING 9606.ENSP00000279178 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000279178&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.1.19.18 http://www.tcdb.org/search/result.php?tc=2.A.1.19.18 UCSC uc001nww http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001nww&org=rat UniGene Hs.502772 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.502772 UniProtKB S22A9_HUMAN http://www.uniprot.org/uniprot/S22A9_HUMAN UniProtKB-AC Q8IVM8 http://www.uniprot.org/uniprot/Q8IVM8 charge swissprot:S22A9_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S22A9_HUMAN eggNOG COG0477 http://eggnogapi.embl.de/nog_data/html/tree/COG0477 eggNOG KOG0255 http://eggnogapi.embl.de/nog_data/html/tree/KOG0255 epestfind swissprot:S22A9_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S22A9_HUMAN garnier swissprot:S22A9_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S22A9_HUMAN helixturnhelix swissprot:S22A9_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S22A9_HUMAN hmoment swissprot:S22A9_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S22A9_HUMAN iep swissprot:S22A9_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S22A9_HUMAN inforesidue swissprot:S22A9_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S22A9_HUMAN neXtProt NX_Q8IVM8 http://www.nextprot.org/db/entry/NX_Q8IVM8 octanol swissprot:S22A9_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S22A9_HUMAN pepcoil swissprot:S22A9_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S22A9_HUMAN pepdigest swissprot:S22A9_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S22A9_HUMAN pepinfo swissprot:S22A9_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S22A9_HUMAN pepnet swissprot:S22A9_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S22A9_HUMAN pepstats swissprot:S22A9_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S22A9_HUMAN pepwheel swissprot:S22A9_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S22A9_HUMAN pepwindow swissprot:S22A9_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S22A9_HUMAN sigcleave swissprot:S22A9_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S22A9_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S29A4_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q7RTT9-1; Sequence=Displayed; Name=2; IsoId=Q7RTT9-2; Sequence=VSP_032647; Note=No experimental confirmation available.; # AltName S29A4_HUMAN Plasma membrane monoamine transporter # AltName S29A4_HUMAN Solute carrier family 29 member 4 # CCDS CCDS5340 -. [Q7RTT9-1] # CCDS CCDS75561 -. [Q7RTT9-2] # ChiTaRS SLC29A4 human # DrugBank DB00331 Metformin # Ensembl ENST00000297195 ENSP00000297195; ENSG00000164638. [Q7RTT9-1] # Ensembl ENST00000396872 ENSP00000380081; ENSG00000164638. [Q7RTT9-1] # Ensembl ENST00000406453 ENSP00000385845; ENSG00000164638. [Q7RTT9-2] # ExpressionAtlas Q7RTT9 baseline and differential # FUNCTION S29A4_HUMAN Functions as a polyspecific organic cation transporter, efficiently transporting many organic cations such as monoamine neurotransmitters 1-methyl-4-phenylpyridinium and biogenic amines including serotonin, dopamine, norepinephrine and epinephrine. May play a role in regulating central nervous system homeostasis of monoamine neurotransmitters. May be involved in luminal transport of organic cations in the kidney and seems to use luminal proton gradient to drive organic cation reabsorption. Does not seem to transport nucleoside and nucleoside analogs such as uridine, cytidine, thymidine, adenosine, inosine, guanosine, and azidothymidine. In (PubMed 16873718) adenosine is efficiently transported but in a fashion highly sensitive to extracellular pH, with maximal activity in the pH range 5.5 to 6.5. Glu-206 is essential for the cation selectivity and may function as the charge sensor for cationic substrates. Transport is chloride and sodium-independent but appears to be sensitive to changes in membrane potential. Weakly inhibited by the classical inhibitors of equilibrative nucleoside transport, dipyridamole, dilazep, and nitrobenzylthioinosine. May play a role in the regulation of extracellular adenosine concentrations in cardiac tissues, in particular during ischemia. {ECO 0000269|PubMed 15448143, ECO 0000269|PubMed 16873718, ECO 0000269|PubMed 17018840, ECO 0000269|PubMed 17121826}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0016324 apical plasma membrane; IEA:UniProtKB-SubCell. # GO_function GO:0005337 nucleoside transmembrane transporter activity; TAS:Reactome. # GO_function GO:0008504 monoamine transmembrane transporter activity; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # Genevisible Q7RTT9 HS # HGNC HGNC:23097 SLC29A4 # InterPro IPR002259 Eqnu_transpt # InterPro IPR020846 MFS_dom # InterPro IPR030198 ENT4 # KEGG_Brite ko02001 Solute carrier family # MIM 609149 gene # Organism S29A4_HUMAN Homo sapiens (Human) # PANTHER PTHR10332 PTHR10332; 2 # PANTHER PTHR10332:SF4 PTHR10332:SF4; 2 # PRINTS PR01130 DERENTRNSPRT # PTM S29A4_HUMAN N-glycosylated. {ECO 0000269|PubMed 16873718}. # Pfam PF01733 Nucleoside_tran # Proteomes UP000005640 Chromosome 7 # Reactome R-HSA-83936 Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane # RecName S29A4_HUMAN Equilibrative nucleoside transporter 4 # RefSeq NP_001035751 NM_001040661.1. [Q7RTT9-1] # RefSeq NP_001287776 NM_001300847.1. [Q7RTT9-2] # RefSeq NP_694979 NM_153247.2. [Q7RTT9-1] # RefSeq XP_005249715 XM_005249658.4. [Q7RTT9-2] # RefSeq XP_006715730 XM_006715667.3. [Q7RTT9-1] # RefSeq XP_011513502 XM_011515200.2. [Q7RTT9-1] # RefSeq XP_011513503 XM_011515201.2. [Q7RTT9-1] # SEQUENCE CAUTION Sequence=BAC11612.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the SLC29A/ENT transporter (TC 2.A.57) family. {ECO 0000305}. # SUBCELLULAR LOCATION S29A4_HUMAN Cell membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. Apical cell membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. Note=Located to the plasma membranes of ventricular myocytes and vascular endothelial cells. Targeted to the apical membranes of differentiated kidney epithelial cells. {ECO 0000269|PubMed 15448143, ECO 0000269|PubMed 16873718}. # SUPFAM SSF103473 SSF103473; 2 # TCDB 2.A.57.1 the equilibrative nucleoside transporter (ent) family # TISSUE SPECIFICITY S29A4_HUMAN Expressed abundantly in the heart, in both cardiomyocytes and vascular endothelial cells (at protein level). Highly expressed in brain, kidney and skeletal muscle. In the brain expressed in cerebellum, cerebral cortex, medulla, occipital pole, frontal and temporal lobes putamen and in the spinal cord. Lower expression in liver, pancreas, and liver. Expressed in endometrial tissue, exclusively in the stroma. Expression is high in the proliferative phase, decreases during the secretory phase, and is no longer detectable in the menstrual phase. {ECO 0000269|PubMed 15448143, ECO 0000269|PubMed 16873718, ECO 0000269|PubMed 17018840, ECO 0000269|PubMed 17393420}. # UCSC uc003soc human. [Q7RTT9-1] # eggNOG ENOG410Y3MT LUCA # eggNOG KOG1479 Eukaryota BLAST swissprot:S29A4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S29A4_HUMAN COXPRESdb 222962 http://coxpresdb.jp/data/gene/222962.shtml CleanEx HS_SLC29A4 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC29A4 DOI 10.1002/mrd.20697 http://dx.doi.org/10.1002/mrd.20697 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.M407913200 http://dx.doi.org/10.1074/jbc.M407913200 DOI 10.1074/jbc.M609421200 http://dx.doi.org/10.1074/jbc.M609421200 DOI 10.1093/oxfordjournals.molbev.a004044 http://dx.doi.org/10.1093/oxfordjournals.molbev.a004044 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1152/ajprenal.00302.2006 http://dx.doi.org/10.1152/ajprenal.00302.2006 DOI 10.1161/01.RES.0000238359.18495.42 http://dx.doi.org/10.1161/01.RES.0000238359.18495.42 DrugBank DB00331 http://www.drugbank.ca/drugs/DB00331 EMBL AK075422 http://www.ebi.ac.uk/ena/data/view/AK075422 EMBL AK092242 http://www.ebi.ac.uk/ena/data/view/AK092242 EMBL AY485959 http://www.ebi.ac.uk/ena/data/view/AY485959 EMBL BC025325 http://www.ebi.ac.uk/ena/data/view/BC025325 EMBL BC047592 http://www.ebi.ac.uk/ena/data/view/BC047592 EMBL BK000627 http://www.ebi.ac.uk/ena/data/view/BK000627 EMBL CH471144 http://www.ebi.ac.uk/ena/data/view/CH471144 EMBL CH471144 http://www.ebi.ac.uk/ena/data/view/CH471144 Ensembl ENST00000297195 http://www.ensembl.org/id/ENST00000297195 Ensembl ENST00000396872 http://www.ensembl.org/id/ENST00000396872 Ensembl ENST00000406453 http://www.ensembl.org/id/ENST00000406453 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_function GO:0005337 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005337 GO_function GO:0008504 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008504 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GeneCards SLC29A4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC29A4 GeneID 222962 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=222962 GeneTree ENSGT00390000002232 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000002232 HGNC HGNC:23097 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:23097 HOGENOM HOG000048076 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000048076&db=HOGENOM6 HOVERGEN HBG095787 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG095787&db=HOVERGEN HPA HPA052829 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA052829 InParanoid Q7RTT9 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q7RTT9 InterPro IPR002259 http://www.ebi.ac.uk/interpro/entry/IPR002259 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 InterPro IPR030198 http://www.ebi.ac.uk/interpro/entry/IPR030198 Jabion 222962 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=222962 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:222962 http://www.genome.jp/dbget-bin/www_bget?hsa:222962 KEGG_Orthology KO:K03323 http://www.genome.jp/dbget-bin/www_bget?KO:K03323 MIM 609149 http://www.ncbi.nlm.nih.gov/omim/609149 OMA FYTTRPR http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=FYTTRPR OrthoDB EOG091G0840 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0840 PANTHER PTHR10332 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10332 PANTHER PTHR10332:SF4 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10332:SF4 PRINTS PR01130 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01130 PSORT swissprot:S29A4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S29A4_HUMAN PSORT-B swissprot:S29A4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S29A4_HUMAN PSORT2 swissprot:S29A4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S29A4_HUMAN Pfam PF01733 http://pfam.xfam.org/family/PF01733 PharmGKB PA134976472 http://www.pharmgkb.org/do/serve?objId=PA134976472&objCls=Gene Phobius swissprot:S29A4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S29A4_HUMAN PhylomeDB Q7RTT9 http://phylomedb.org/?seqid=Q7RTT9 ProteinModelPortal Q7RTT9 http://www.proteinmodelportal.org/query/uniprot/Q7RTT9 PubMed 12446811 http://www.ncbi.nlm.nih.gov/pubmed/12446811 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15448143 http://www.ncbi.nlm.nih.gov/pubmed/15448143 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16873718 http://www.ncbi.nlm.nih.gov/pubmed/16873718 PubMed 17018840 http://www.ncbi.nlm.nih.gov/pubmed/17018840 PubMed 17121826 http://www.ncbi.nlm.nih.gov/pubmed/17121826 PubMed 17393420 http://www.ncbi.nlm.nih.gov/pubmed/17393420 Reactome R-HSA-83936 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-83936 RefSeq NP_001035751 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001035751 RefSeq NP_001287776 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001287776 RefSeq NP_694979 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_694979 RefSeq XP_005249715 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005249715 RefSeq XP_006715730 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006715730 RefSeq XP_011513502 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011513502 RefSeq XP_011513503 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011513503 STRING 9606.ENSP00000297195 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000297195&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.57.1 http://www.tcdb.org/search/result.php?tc=2.A.57.1 UCSC uc003soc http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003soc&org=rat UniGene Hs.4302 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.4302 UniProtKB S29A4_HUMAN http://www.uniprot.org/uniprot/S29A4_HUMAN UniProtKB-AC Q7RTT9 http://www.uniprot.org/uniprot/Q7RTT9 charge swissprot:S29A4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S29A4_HUMAN eggNOG ENOG410Y3MT http://eggnogapi.embl.de/nog_data/html/tree/ENOG410Y3MT eggNOG KOG1479 http://eggnogapi.embl.de/nog_data/html/tree/KOG1479 epestfind swissprot:S29A4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S29A4_HUMAN garnier swissprot:S29A4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S29A4_HUMAN helixturnhelix swissprot:S29A4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S29A4_HUMAN hmoment swissprot:S29A4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S29A4_HUMAN iep swissprot:S29A4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S29A4_HUMAN inforesidue swissprot:S29A4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S29A4_HUMAN neXtProt NX_Q7RTT9 http://www.nextprot.org/db/entry/NX_Q7RTT9 octanol swissprot:S29A4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S29A4_HUMAN pepcoil swissprot:S29A4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S29A4_HUMAN pepdigest swissprot:S29A4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S29A4_HUMAN pepinfo swissprot:S29A4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S29A4_HUMAN pepnet swissprot:S29A4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S29A4_HUMAN pepstats swissprot:S29A4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S29A4_HUMAN pepwheel swissprot:S29A4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S29A4_HUMAN pepwindow swissprot:S29A4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S29A4_HUMAN sigcleave swissprot:S29A4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S29A4_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS CLCC1_HUMAN Event=Alternative splicing; Named isoforms=4; Name=1; Synonyms=hMCLC-1; IsoId=Q96S66-1; Sequence=Displayed; Name=2; Synonyms=hMCLC-2; IsoId=Q96S66-2; Sequence=VSP_027349; Name=3; Synonyms=hMCLC-3; IsoId=Q96S66-3; Sequence=VSP_027348; Name=4; Synonyms=hMCLC-4; IsoId=Q96S66-4; Sequence=VSP_027347; # AltName CLCC1_HUMAN Mid-1-related chloride channel protein 1 # BioGrid 116769 25 # CCDS CCDS41362 -. [Q96S66-1] # CCDS CCDS60214 -. [Q96S66-4] # CCDS CCDS60215 -. [Q96S66-3] # CCDS CCDS793 -. [Q96S66-2] # Ensembl ENST00000302500 ENSP00000306552; ENSG00000121940. [Q96S66-3] # Ensembl ENST00000348264 ENSP00000337243; ENSG00000121940. [Q96S66-4] # Ensembl ENST00000356970 ENSP00000349456; ENSG00000121940. [Q96S66-1] # Ensembl ENST00000369968 ENSP00000358985; ENSG00000121940. [Q96S66-4] # Ensembl ENST00000369969 ENSP00000358986; ENSG00000121940. [Q96S66-3] # Ensembl ENST00000369970 ENSP00000358987; ENSG00000121940. [Q96S66-2] # ExpressionAtlas Q96S66 baseline and differential # FUNCTION CLCC1_HUMAN Seems to act as a chloride ion channel. {ECO 0000250}. # GO_component GO:0005634 nucleus; IEA:UniProtKB-SubCell. # GO_component GO:0005783 endoplasmic reticulum; IDA:HPA. # GO_component GO:0005794 Golgi apparatus; IEA:UniProtKB-SubCell. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0034707 chloride channel complex; IEA:UniProtKB-KW. # GO_component GO:0043231 intracellular membrane-bounded organelle; IDA:HPA. # GO_function GO:0005254 chloride channel activity; IEA:UniProtKB-KW. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_component GO:0005794 Golgi apparatus # GOslim_component GO:0043226 organelle # GOslim_function GO:0022857 transmembrane transporter activity # Genevisible Q96S66 HS # HGNC HGNC:29675 CLCC1 # IntAct Q96S66 11 # InterPro IPR009231 Chloride_chnl_CLIC-like # Organism CLCC1_HUMAN Homo sapiens (Human) # Pfam PF05934 MCLC # Proteomes UP000005640 Chromosome 1 # RecName CLCC1_HUMAN Chloride channel CLIC-like protein 1 # RefSeq NP_001041675 NM_001048210.2. [Q96S66-1] # RefSeq NP_001265131 NM_001278202.1. [Q96S66-3] # RefSeq NP_001265132 NM_001278203.1. [Q96S66-4] # RefSeq NP_055942 NM_015127.4. [Q96S66-2] # SIMILARITY Belongs to the chloride channel MCLC family. {ECO 0000305}. # SUBCELLULAR LOCATION CLCC1_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. Endoplasmic reticulum. Golgi apparatus. Nucleus {ECO 0000250}. # TCDB 1.A.36.1 the intracellular chloride channel (icc) family # UCSC uc009wes human. [Q96S66-1] # eggNOG ENOG410IJAP Eukaryota # eggNOG ENOG41108E0 LUCA BLAST swissprot:CLCC1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CLCC1_HUMAN COXPRESdb 23155 http://coxpresdb.jp/data/gene/23155.shtml CleanEx HS_CLCC1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CLCC1 DOI 10.1016/j.cell.2006.09.026 http://dx.doi.org/10.1016/j.cell.2006.09.026 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/ac9004309 http://dx.doi.org/10.1021/ac9004309 DOI 10.1021/pr070152u http://dx.doi.org/10.1021/pr070152u DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1074/jbc.M100366200 http://dx.doi.org/10.1074/jbc.M100366200 DOI 10.1093/dnares/5.5.277 http://dx.doi.org/10.1093/dnares/5.5.277 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 DOI 10.1126/scisignal.2001570 http://dx.doi.org/10.1126/scisignal.2001570 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AB018304 http://www.ebi.ac.uk/ena/data/view/AB018304 EMBL AB052915 http://www.ebi.ac.uk/ena/data/view/AB052915 EMBL AB052916 http://www.ebi.ac.uk/ena/data/view/AB052916 EMBL AB052917 http://www.ebi.ac.uk/ena/data/view/AB052917 EMBL AB052918 http://www.ebi.ac.uk/ena/data/view/AB052918 EMBL AL449266 http://www.ebi.ac.uk/ena/data/view/AL449266 EMBL AL449266 http://www.ebi.ac.uk/ena/data/view/AL449266 EMBL AL449266 http://www.ebi.ac.uk/ena/data/view/AL449266 EMBL AL449266 http://www.ebi.ac.uk/ena/data/view/AL449266 EMBL BC002939 http://www.ebi.ac.uk/ena/data/view/BC002939 EMBL CH471122 http://www.ebi.ac.uk/ena/data/view/CH471122 EMBL CH471122 http://www.ebi.ac.uk/ena/data/view/CH471122 Ensembl ENST00000302500 http://www.ensembl.org/id/ENST00000302500 Ensembl ENST00000348264 http://www.ensembl.org/id/ENST00000348264 Ensembl ENST00000356970 http://www.ensembl.org/id/ENST00000356970 Ensembl ENST00000369968 http://www.ensembl.org/id/ENST00000369968 Ensembl ENST00000369969 http://www.ensembl.org/id/ENST00000369969 Ensembl ENST00000369970 http://www.ensembl.org/id/ENST00000369970 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GO_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0034707 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034707 GO_component GO:0043231 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043231 GO_function GO:0005254 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005254 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GeneCards CLCC1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CLCC1 GeneID 23155 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=23155 GeneTree ENSGT00390000016611 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000016611 HGNC HGNC:29675 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:29675 HOGENOM HOG000231351 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231351&db=HOGENOM6 HOVERGEN HBG060364 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG060364&db=HOVERGEN HPA HPA009087 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA009087 HPA HPA013210 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA013210 InParanoid Q96S66 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q96S66 IntAct Q96S66 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q96S66* InterPro IPR009231 http://www.ebi.ac.uk/interpro/entry/IPR009231 Jabion 23155 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=23155 KEGG_Gene hsa:23155 http://www.genome.jp/dbget-bin/www_bget?hsa:23155 OMA TGSIWEW http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=TGSIWEW OrthoDB EOG091G0BRS http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0BRS PSORT swissprot:CLCC1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CLCC1_HUMAN PSORT-B swissprot:CLCC1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CLCC1_HUMAN PSORT2 swissprot:CLCC1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CLCC1_HUMAN Pfam PF05934 http://pfam.xfam.org/family/PF05934 PharmGKB PA142672105 http://www.pharmgkb.org/do/serve?objId=PA142672105&objCls=Gene Phobius swissprot:CLCC1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CLCC1_HUMAN PhylomeDB Q96S66 http://phylomedb.org/?seqid=Q96S66 ProteinModelPortal Q96S66 http://www.proteinmodelportal.org/query/uniprot/Q96S66 PubMed 11279057 http://www.ncbi.nlm.nih.gov/pubmed/11279057 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 17081983 http://www.ncbi.nlm.nih.gov/pubmed/17081983 PubMed 17924679 http://www.ncbi.nlm.nih.gov/pubmed/17924679 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 19413330 http://www.ncbi.nlm.nih.gov/pubmed/19413330 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 21406692 http://www.ncbi.nlm.nih.gov/pubmed/21406692 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 9872452 http://www.ncbi.nlm.nih.gov/pubmed/9872452 RefSeq NP_001041675 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001041675 RefSeq NP_001265131 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001265131 RefSeq NP_001265132 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001265132 RefSeq NP_055942 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_055942 STRING 9606.ENSP00000349456 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000349456&targetmode=cogs TCDB 1.A.36.1 http://www.tcdb.org/search/result.php?tc=1.A.36.1 UCSC uc009wes http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc009wes&org=rat UniGene Hs.658489 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.658489 UniProtKB CLCC1_HUMAN http://www.uniprot.org/uniprot/CLCC1_HUMAN UniProtKB-AC Q96S66 http://www.uniprot.org/uniprot/Q96S66 charge swissprot:CLCC1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CLCC1_HUMAN eggNOG ENOG410IJAP http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IJAP eggNOG ENOG41108E0 http://eggnogapi.embl.de/nog_data/html/tree/ENOG41108E0 epestfind swissprot:CLCC1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CLCC1_HUMAN garnier swissprot:CLCC1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CLCC1_HUMAN helixturnhelix swissprot:CLCC1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CLCC1_HUMAN hmoment swissprot:CLCC1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CLCC1_HUMAN iep swissprot:CLCC1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CLCC1_HUMAN inforesidue swissprot:CLCC1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CLCC1_HUMAN neXtProt NX_Q96S66 http://www.nextprot.org/db/entry/NX_Q96S66 octanol swissprot:CLCC1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CLCC1_HUMAN pepcoil swissprot:CLCC1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CLCC1_HUMAN pepdigest swissprot:CLCC1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CLCC1_HUMAN pepinfo swissprot:CLCC1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CLCC1_HUMAN pepnet swissprot:CLCC1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CLCC1_HUMAN pepstats swissprot:CLCC1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CLCC1_HUMAN pepwheel swissprot:CLCC1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CLCC1_HUMAN pepwindow swissprot:CLCC1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CLCC1_HUMAN sigcleave swissprot:CLCC1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CLCC1_HUMAN ## Database ID URL or Descriptions # AltName UCRIL_HUMAN Ubiquinol-cytochrome c reductase Rieske iron-sulfur subunit pseudogene 1 # CAUTION Could be the product of a pseudogene. {ECO 0000305}. # COFACTOR Name=[2Fe-2S] cluster; Xref=ChEBI:CHEBI 49601; Note=Binds 1 [2Fe-2S] cluster.; # GO_component GO:0016020 membrane; IEA:InterPro. # GO_function GO:0008121 ubiquinol-cytochrome-c reductase activity; IEA:InterPro. # GO_function GO:0046872 metal ion binding; IEA:UniProtKB-KW. # GO_function GO:0051537 2 iron, 2 sulfur cluster binding; IEA:UniProtKB-KW. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0016491 oxidoreductase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # Gene3D 1.20.5.270 -; 1. # Gene3D 2.102.10.10 -; 1. # HGNC HGNC:12588 UQCRFS1P1 # InterPro IPR004192 Ubiquinol_cyt_Rdtase_TM # InterPro IPR005805 Rieske_Fe-S_prot_C # InterPro IPR006317 Ubiquinol_cyt_c_Rdtase_Fe-S-su # InterPro IPR011070 Globular_prot_asu/bsu # InterPro IPR014349 Rieske_Fe-S_prot # InterPro IPR015248 Ubiqinol_cyt_c_Rdtase_N # InterPro IPR017941 Rieske_2Fe-2S # Organism UCRIL_HUMAN Homo sapiens (Human) # PANTHER PTHR10134 PTHR10134 # PRINTS PR00162 RIESKE # PROSITE PS51296 RIESKE # Pfam PF00355 Rieske # Pfam PF02921 UCR_TM # Pfam PF09165 Ubiq-Cytc-red_N # Proteomes UP000005640 Unplaced # RecName UCRIL_HUMAN Putative cytochrome b-c1 complex subunit Rieske-like protein 1 # SIMILARITY Contains 1 Rieske domain. {ECO:0000255|PROSITE- ProRule PRU00628}. # SUPFAM SSF50022 SSF50022 # SUPFAM SSF56568 SSF56568 # TIGRFAMs TIGR01416 Rieske_proteo # eggNOG COG0723 LUCA # eggNOG KOG1671 Eukaryota BLAST swissprot:UCRIL_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:UCRIL_HUMAN BioCyc ZFISH:HS11982-MONOMER http://biocyc.org/getid?id=ZFISH:HS11982-MONOMER DOI 10.1038/990031 http://dx.doi.org/10.1038/990031 EMBL CR592425 http://www.ebi.ac.uk/ena/data/view/CR592425 EMBL Z82206 http://www.ebi.ac.uk/ena/data/view/Z82206 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_function GO:0008121 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008121 GO_function GO:0046872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046872 GO_function GO:0051537 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051537 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0016491 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016491 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 Gene3D 1.20.5.270 http://www.cathdb.info/version/latest/superfamily/1.20.5.270 Gene3D 2.102.10.10 http://www.cathdb.info/version/latest/superfamily/2.102.10.10 GeneCards UQCRFS1P1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=UQCRFS1P1 HGNC HGNC:12588 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:12588 HOGENOM HOG000255193 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000255193&db=HOGENOM6 HOVERGEN HBG001040 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG001040&db=HOVERGEN HPA HPA041863 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA041863 HPA HPA050339 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA050339 InParanoid P0C7P4 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P0C7P4 IntAct P0C7P4 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P0C7P4* InterPro IPR004192 http://www.ebi.ac.uk/interpro/entry/IPR004192 InterPro IPR005805 http://www.ebi.ac.uk/interpro/entry/IPR005805 InterPro IPR006317 http://www.ebi.ac.uk/interpro/entry/IPR006317 InterPro IPR011070 http://www.ebi.ac.uk/interpro/entry/IPR011070 InterPro IPR014349 http://www.ebi.ac.uk/interpro/entry/IPR014349 InterPro IPR015248 http://www.ebi.ac.uk/interpro/entry/IPR015248 InterPro IPR017941 http://www.ebi.ac.uk/interpro/entry/IPR017941 PANTHER PTHR10134 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10134 PRINTS PR00162 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00162 PROSITE PS51296 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51296 PSORT swissprot:UCRIL_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:UCRIL_HUMAN PSORT-B swissprot:UCRIL_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:UCRIL_HUMAN PSORT2 swissprot:UCRIL_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:UCRIL_HUMAN Pfam PF00355 http://pfam.xfam.org/family/PF00355 Pfam PF02921 http://pfam.xfam.org/family/PF02921 Pfam PF09165 http://pfam.xfam.org/family/PF09165 Phobius swissprot:UCRIL_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:UCRIL_HUMAN PhylomeDB P0C7P4 http://phylomedb.org/?seqid=P0C7P4 ProteinModelPortal P0C7P4 http://www.proteinmodelportal.org/query/uniprot/P0C7P4 PubMed 10591208 http://www.ncbi.nlm.nih.gov/pubmed/10591208 SMR P0C7P4 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P0C7P4 STRING 9606.ENSP00000306397 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000306397&targetmode=cogs SUPFAM SSF50022 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF50022 SUPFAM SSF56568 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF56568 TIGRFAMs TIGR01416 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01416 UniProtKB UCRIL_HUMAN http://www.uniprot.org/uniprot/UCRIL_HUMAN UniProtKB-AC P0C7P4 http://www.uniprot.org/uniprot/P0C7P4 charge swissprot:UCRIL_HUMAN http://rest.g-language.org/emboss/charge/swissprot:UCRIL_HUMAN eggNOG COG0723 http://eggnogapi.embl.de/nog_data/html/tree/COG0723 eggNOG KOG1671 http://eggnogapi.embl.de/nog_data/html/tree/KOG1671 epestfind swissprot:UCRIL_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:UCRIL_HUMAN garnier swissprot:UCRIL_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:UCRIL_HUMAN helixturnhelix swissprot:UCRIL_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:UCRIL_HUMAN hmoment swissprot:UCRIL_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:UCRIL_HUMAN iep swissprot:UCRIL_HUMAN http://rest.g-language.org/emboss/iep/swissprot:UCRIL_HUMAN inforesidue swissprot:UCRIL_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:UCRIL_HUMAN neXtProt NX_P0C7P4 http://www.nextprot.org/db/entry/NX_P0C7P4 octanol swissprot:UCRIL_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:UCRIL_HUMAN pepcoil swissprot:UCRIL_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:UCRIL_HUMAN pepdigest swissprot:UCRIL_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:UCRIL_HUMAN pepinfo swissprot:UCRIL_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:UCRIL_HUMAN pepnet swissprot:UCRIL_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:UCRIL_HUMAN pepstats swissprot:UCRIL_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:UCRIL_HUMAN pepwheel swissprot:UCRIL_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:UCRIL_HUMAN pepwindow swissprot:UCRIL_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:UCRIL_HUMAN sigcleave swissprot:UCRIL_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:UCRIL_HUMAN ## Database ID URL or Descriptions # AltName COX7R_HUMAN COX7a-related protein # AltName COX7R_HUMAN Cytochrome c oxidase subunit VIIa-related protein # AltName COX7R_HUMAN EB1 # BioGrid 114608 14 # CDD cd00928 Cyt_c_Oxidase_VIIa # Ensembl ENST00000234301 ENSP00000234301; ENSG00000115944 # Ensembl ENST00000378669 ENSP00000367938; ENSG00000115944 # ExpressionAtlas O14548 baseline and differential # FUNCTION COX7R_HUMAN Involved in the regulation of oxidative phosphorylation and energy metabolism (By similarity). Necessary for the assembly of mitochondrial respiratory supercomplex (By similarity). {ECO 0000250|UniProtKB Q61387}. # GO_component GO:0005743 mitochondrial inner membrane; TAS:Reactome. # GO_component GO:0005746 mitochondrial respiratory chain; IEA:InterPro. # GO_function GO:0004129 cytochrome-c oxidase activity; TAS:ProtInc. # GO_process GO:0006123 mitochondrial electron transport, cytochrome c to oxygen; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0016491 oxidoreductase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006091 generation of precursor metabolites and energy # Gene3D 4.10.91.10 -; 1. # Genevisible O14548 HS # HGNC HGNC:2289 COX7A2L # INDUCTION COX7R_HUMAN By estrogen. # IntAct O14548 4 # InterPro IPR003177 Cyt_c_oxidase_su7a # InterPro IPR017267 Cyt_c_oxidase_su7a-rel_mt # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Pathway ko00190 Oxidative phosphorylation # KEGG_Pathway ko04260 Cardiac muscle contraction # KEGG_Pathway ko05010 Alzheimer's disease # KEGG_Pathway ko05012 Parkinson's disease # KEGG_Pathway ko05016 Huntington's disease # MIM 605771 gene # Organism COX7R_HUMAN Homo sapiens (Human) # PANTHER PTHR10510 PTHR10510 # PANTHER PTHR10510:SF2 PTHR10510:SF2 # PIRSF PIRSF037710 COX7A-rel_mt # Proteomes UP000005640 Chromosome 2 # Reactome R-HSA-5628897 TP53 Regulates Metabolic Genes # Reactome R-HSA-611105 Respiratory electron transport # RecName COX7R_HUMAN Cytochrome c oxidase subunit 7A-related protein, mitochondrial # RefSeq NP_001305965 NM_001319036.1 # RefSeq NP_001305969 NM_001319040.1 # RefSeq NP_004709 NM_004718.3 # SIMILARITY Belongs to the cytochrome c oxidase VIIa family. {ECO 0000305}. # SUBCELLULAR LOCATION COX7R_HUMAN Mitochondrion inner membrane {ECO 0000250}. # SUBUNIT Interacts with the mitochondrial respiratory supercomplex. {ECO:0000250|UniProtKB Q61387}. # SUPFAM SSF81419 SSF81419 # eggNOG ENOG410IYMH Eukaryota # eggNOG ENOG41120Z9 LUCA BLAST swissprot:COX7R_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:COX7R_HUMAN BioCyc ZFISH:HS03956-MONOMER http://biocyc.org/getid?id=ZFISH:HS03956-MONOMER COXPRESdb 9167 http://coxpresdb.jp/data/gene/9167.shtml CleanEx HS_COX7A2L http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_COX7A2L DOI 10.1086/318197 http://dx.doi.org/10.1086/318197 DOI 10.1093/oxfordjournals.molbev.a026144 http://dx.doi.org/10.1093/oxfordjournals.molbev.a026144 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1175371 http://dx.doi.org/10.1126/science.1175371 DOI 10.1128/MCB.18.1.442 http://dx.doi.org/10.1128/MCB.18.1.442 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AB007618 http://www.ebi.ac.uk/ena/data/view/AB007618 EMBL AF127788 http://www.ebi.ac.uk/ena/data/view/AF127788 EMBL AY007643 http://www.ebi.ac.uk/ena/data/view/AY007643 EMBL BC005251 http://www.ebi.ac.uk/ena/data/view/BC005251 EMBL BC007095 http://www.ebi.ac.uk/ena/data/view/BC007095 EMBL BT007371 http://www.ebi.ac.uk/ena/data/view/BT007371 Ensembl ENST00000234301 http://www.ensembl.org/id/ENST00000234301 Ensembl ENST00000378669 http://www.ensembl.org/id/ENST00000378669 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0005746 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005746 GO_function GO:0004129 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004129 GO_process GO:0006123 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006123 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0016491 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016491 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006091 Gene3D 4.10.91.10 http://www.cathdb.info/version/latest/superfamily/4.10.91.10 GeneCards COX7A2L http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=COX7A2L GeneID 9167 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=9167 GeneTree ENSGT00400000022054 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00400000022054 HGNC HGNC:2289 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:2289 HOGENOM HOG000264231 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000264231&db=HOGENOM6 HOVERGEN HBG051095 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG051095&db=HOVERGEN HPA CAB073545 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB073545 HPA HPA059124 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA059124 InParanoid O14548 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O14548 IntAct O14548 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O14548* InterPro IPR003177 http://www.ebi.ac.uk/interpro/entry/IPR003177 InterPro IPR017267 http://www.ebi.ac.uk/interpro/entry/IPR017267 Jabion 9167 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=9167 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00002 http://www.genome.jp/dbget-bin/www_bget?ko00002 KEGG_Gene hsa:9167 http://www.genome.jp/dbget-bin/www_bget?hsa:9167 KEGG_Orthology KO:K02270 http://www.genome.jp/dbget-bin/www_bget?KO:K02270 KEGG_Pathway ko00190 http://www.genome.jp/kegg-bin/show_pathway?ko00190 KEGG_Pathway ko04260 http://www.genome.jp/kegg-bin/show_pathway?ko04260 KEGG_Pathway ko05010 http://www.genome.jp/kegg-bin/show_pathway?ko05010 KEGG_Pathway ko05012 http://www.genome.jp/kegg-bin/show_pathway?ko05012 KEGG_Pathway ko05016 http://www.genome.jp/kegg-bin/show_pathway?ko05016 MIM 605771 http://www.ncbi.nlm.nih.gov/omim/605771 MINT MINT-1484437 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1484437 OMA YFAAQPN http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=YFAAQPN OrthoDB EOG091G12UD http://cegg.unige.ch/orthodb/results?searchtext=EOG091G12UD PANTHER PTHR10510 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10510 PANTHER PTHR10510:SF2 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10510:SF2 PSORT swissprot:COX7R_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:COX7R_HUMAN PSORT-B swissprot:COX7R_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:COX7R_HUMAN PSORT2 swissprot:COX7R_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:COX7R_HUMAN PharmGKB PA26807 http://www.pharmgkb.org/do/serve?objId=PA26807&objCls=Gene Phobius swissprot:COX7R_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:COX7R_HUMAN PhylomeDB O14548 http://phylomedb.org/?seqid=O14548 ProteinModelPortal O14548 http://www.proteinmodelportal.org/query/uniprot/O14548 PubMed 10335655 http://www.ncbi.nlm.nih.gov/pubmed/10335655 PubMed 11156535 http://www.ncbi.nlm.nih.gov/pubmed/11156535 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 19608861 http://www.ncbi.nlm.nih.gov/pubmed/19608861 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 9418891 http://www.ncbi.nlm.nih.gov/pubmed/9418891 Reactome R-HSA-5628897 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5628897 Reactome R-HSA-611105 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-611105 RefSeq NP_001305965 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001305965 RefSeq NP_001305969 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001305969 RefSeq NP_004709 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004709 SMR O14548 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=O14548 STRING 9606.ENSP00000234301 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000234301&targetmode=cogs SUPFAM SSF81419 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81419 UniGene Hs.339639 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.339639 UniGene Hs.744101 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.744101 UniProtKB COX7R_HUMAN http://www.uniprot.org/uniprot/COX7R_HUMAN UniProtKB-AC O14548 http://www.uniprot.org/uniprot/O14548 charge swissprot:COX7R_HUMAN http://rest.g-language.org/emboss/charge/swissprot:COX7R_HUMAN eggNOG ENOG410IYMH http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IYMH eggNOG ENOG41120Z9 http://eggnogapi.embl.de/nog_data/html/tree/ENOG41120Z9 epestfind swissprot:COX7R_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:COX7R_HUMAN garnier swissprot:COX7R_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:COX7R_HUMAN helixturnhelix swissprot:COX7R_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:COX7R_HUMAN hmoment swissprot:COX7R_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:COX7R_HUMAN iep swissprot:COX7R_HUMAN http://rest.g-language.org/emboss/iep/swissprot:COX7R_HUMAN inforesidue swissprot:COX7R_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:COX7R_HUMAN neXtProt NX_O14548 http://www.nextprot.org/db/entry/NX_O14548 octanol swissprot:COX7R_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:COX7R_HUMAN pepcoil swissprot:COX7R_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:COX7R_HUMAN pepdigest swissprot:COX7R_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:COX7R_HUMAN pepinfo swissprot:COX7R_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:COX7R_HUMAN pepnet swissprot:COX7R_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:COX7R_HUMAN pepstats swissprot:COX7R_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:COX7R_HUMAN pepwheel swissprot:COX7R_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:COX7R_HUMAN pepwindow swissprot:COX7R_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:COX7R_HUMAN sigcleave swissprot:COX7R_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:COX7R_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS COG2_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q14746-1; Sequence=Displayed; Name=2; IsoId=Q14746-2; Sequence=VSP_042942; Note=No experimental confirmation available.; # AltName COG2_HUMAN Component of oligomeric Golgi complex 2 # AltName COG2_HUMAN Low density lipoprotein receptor defect C-complementing protein # BioGrid 116477 29 # CCDS CCDS1584 -. [Q14746-1] # CCDS CCDS44329 -. [Q14746-2] # Ensembl ENST00000366668 ENSP00000355628; ENSG00000135775. [Q14746-2] # Ensembl ENST00000366669 ENSP00000355629; ENSG00000135775. [Q14746-1] # ExpressionAtlas Q14746 baseline and differential # FUNCTION COG2_HUMAN Required for normal Golgi morphology and function. # GO_component GO:0000139 Golgi membrane; TAS:Reactome. # GO_component GO:0005795 Golgi stack; IDA:UniProtKB. # GO_component GO:0005829 cytosol; IEA:Ensembl. # GO_component GO:0017119 Golgi transport complex; IDA:UniProtKB. # GO_component GO:0032588 trans-Golgi network membrane; TAS:Reactome. # GO_function GO:0008565 protein transporter activity; IMP:UniProtKB. # GO_process GO:0006888 ER to Golgi vesicle-mediated transport; TAS:Reactome. # GO_process GO:0006891 intra-Golgi vesicle-mediated transport; IMP:UniProtKB. # GO_process GO:0007030 Golgi organization; IMP:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005829 cytosol # GOslim_component GO:0043234 protein complex # GOslim_function GO:0008565 protein transporter activity # GOslim_process GO:0008150 biological_process # GOslim_process GO:0016192 vesicle-mediated transport # Genevisible Q14746 HS # HGNC HGNC:6546 COG2 # INTERACTION COG2_HUMAN Q9H9E3 COG4; NbExp=2; IntAct=EBI-389449, EBI-368382; Q5JR59 MTUS2; NbExp=3; IntAct=EBI-10233912, EBI-742948; # IntAct Q14746 15 # InterPro IPR009316 COG2 # InterPro IPR024602 COG_su2_N # InterPro IPR024603 COG_complex_COG2_C # MIM 606974 gene # Organism COG2_HUMAN Homo sapiens (Human) # PANTHER PTHR12961 PTHR12961; 2 # PIR A53542 A53542 # Pfam PF06148 COG2 # Pfam PF12022 DUF3510 # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-6807878 COPI-mediated anterograde transport # Reactome R-HSA-6811438 Intra-Golgi traffic # Reactome R-HSA-6811440 Retrograde transport at the Trans-Golgi-Network # RecName COG2_HUMAN Conserved oligomeric Golgi complex subunit 2 # RefSeq NP_001138508 NM_001145036.1. [Q14746-2] # RefSeq NP_031383 NM_007357.2. [Q14746-1] # SIMILARITY Belongs to the COG2 family. {ECO 0000305}. # SUBCELLULAR LOCATION COG2_HUMAN Golgi apparatus membrane {ECO 0000305}; Peripheral membrane protein {ECO 0000305}; Cytoplasmic side {ECO 0000305}. # SUBUNIT COG2_HUMAN Component of the conserved oligomeric Golgi complex which is composed of eight different subunits and is required for normal Golgi morphology and localization. # TopDownProteomics Q14746-1 -. [Q14746-1] # UCSC uc001htw human. [Q14746-1] # eggNOG ENOG410XU2D LUCA # eggNOG KOG2307 Eukaryota BLAST swissprot:COG2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:COG2_HUMAN BioCyc ZFISH:ENSG00000135775-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000135775-MONOMER COXPRESdb 22796 http://coxpresdb.jp/data/gene/22796.shtml CleanEx HS_COG2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_COG2 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1083/jcb.127.3.679 http://dx.doi.org/10.1083/jcb.127.3.679 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AL158214 http://www.ebi.ac.uk/ena/data/view/AL158214 EMBL BC014960 http://www.ebi.ac.uk/ena/data/view/BC014960 EMBL BC051906 http://www.ebi.ac.uk/ena/data/view/BC051906 EMBL CH471098 http://www.ebi.ac.uk/ena/data/view/CH471098 EMBL Z34975 http://www.ebi.ac.uk/ena/data/view/Z34975 Ensembl ENST00000366668 http://www.ensembl.org/id/ENST00000366668 Ensembl ENST00000366669 http://www.ensembl.org/id/ENST00000366669 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000139 GO_component GO:0005795 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005795 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0017119 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0017119 GO_component GO:0032588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032588 GO_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GO_process GO:0006888 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006888 GO_process GO:0006891 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006891 GO_process GO:0007030 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007030 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0016192 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016192 GeneCards COG2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=COG2 GeneID 22796 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=22796 GeneTree ENSGT00390000012040 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000012040 HGNC HGNC:6546 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6546 HOGENOM HOG000046032 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000046032&db=HOGENOM6 HOVERGEN HBG030902 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG030902&db=HOVERGEN InParanoid Q14746 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q14746 IntAct Q14746 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q14746* InterPro IPR009316 http://www.ebi.ac.uk/interpro/entry/IPR009316 InterPro IPR024602 http://www.ebi.ac.uk/interpro/entry/IPR024602 InterPro IPR024603 http://www.ebi.ac.uk/interpro/entry/IPR024603 Jabion 22796 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=22796 KEGG_Gene hsa:22796 http://www.genome.jp/dbget-bin/www_bget?hsa:22796 MIM 606974 http://www.ncbi.nlm.nih.gov/omim/606974 OMA LQSGHKD http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=LQSGHKD OrthoDB EOG091G05GZ http://cegg.unige.ch/orthodb/results?searchtext=EOG091G05GZ PANTHER PTHR12961 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12961 PSORT swissprot:COG2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:COG2_HUMAN PSORT-B swissprot:COG2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:COG2_HUMAN PSORT2 swissprot:COG2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:COG2_HUMAN Pfam PF06148 http://pfam.xfam.org/family/PF06148 Pfam PF12022 http://pfam.xfam.org/family/PF12022 PharmGKB PA26697 http://www.pharmgkb.org/do/serve?objId=PA26697&objCls=Gene Phobius swissprot:COG2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:COG2_HUMAN PhylomeDB Q14746 http://phylomedb.org/?seqid=Q14746 ProteinModelPortal Q14746 http://www.proteinmodelportal.org/query/uniprot/Q14746 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 7962052 http://www.ncbi.nlm.nih.gov/pubmed/7962052 Reactome R-HSA-6807878 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6807878 Reactome R-HSA-6811438 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6811438 Reactome R-HSA-6811440 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6811440 RefSeq NP_001138508 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001138508 RefSeq NP_031383 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_031383 SMR Q14746 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q14746 STRING 9606.ENSP00000355629 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000355629&targetmode=cogs UCSC uc001htw http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001htw&org=rat UniGene Hs.211800 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.211800 UniProtKB COG2_HUMAN http://www.uniprot.org/uniprot/COG2_HUMAN UniProtKB-AC Q14746 http://www.uniprot.org/uniprot/Q14746 charge swissprot:COG2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:COG2_HUMAN eggNOG ENOG410XU2D http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XU2D eggNOG KOG2307 http://eggnogapi.embl.de/nog_data/html/tree/KOG2307 epestfind swissprot:COG2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:COG2_HUMAN garnier swissprot:COG2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:COG2_HUMAN helixturnhelix swissprot:COG2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:COG2_HUMAN hmoment swissprot:COG2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:COG2_HUMAN iep swissprot:COG2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:COG2_HUMAN inforesidue swissprot:COG2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:COG2_HUMAN neXtProt NX_Q14746 http://www.nextprot.org/db/entry/NX_Q14746 octanol swissprot:COG2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:COG2_HUMAN pepcoil swissprot:COG2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:COG2_HUMAN pepdigest swissprot:COG2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:COG2_HUMAN pepinfo swissprot:COG2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:COG2_HUMAN pepnet swissprot:COG2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:COG2_HUMAN pepstats swissprot:COG2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:COG2_HUMAN pepwheel swissprot:COG2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:COG2_HUMAN pepwindow swissprot:COG2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:COG2_HUMAN sigcleave swissprot:COG2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:COG2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS CNGA1_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P29973-1; Sequence=Displayed; Name=2; IsoId=P29973-2; Sequence=VSP_047170; Note=No experimental confirmation available.; # AltName CNGA1_HUMAN Cyclic nucleotide-gated cation channel 1 # AltName CNGA1_HUMAN Cyclic nucleotide-gated channel alpha-1 # AltName CNGA1_HUMAN Cyclic nucleotide-gated channel, photoreceptor # AltName CNGA1_HUMAN Rod photoreceptor cGMP-gated channel subunit alpha # CAUTION It is uncertain whether Met-1 or Met-5 is the initiator. {ECO 0000305}. # CCDS CCDS43226 -. [P29973-1] # CCDS CCDS47050 -. [P29973-2] # DISEASE CNGA1_HUMAN Retinitis pigmentosa 49 (RP49) [MIM 613756] A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO 0000269|PubMed 15570217, ECO 0000269|PubMed 7479749}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DOMAIN CNGA1_HUMAN The C-terminal coiled-coil domain mediates homotrimerization of CNGA subunits. {ECO 0000250}. # Ensembl ENST00000358519 ENSP00000351320; ENSG00000198515. [P29973-1] # Ensembl ENST00000402813 ENSP00000384264; ENSG00000198515. [P29973-2] # Ensembl ENST00000420489 ENSP00000389881; ENSG00000198515. [P29973-1] # Ensembl ENST00000514170 ENSP00000426862; ENSG00000198515. [P29973-1] # Ensembl ENST00000544810 ENSP00000443401; ENSG00000198515. [P29973-2] # ExpressionAtlas P29973 baseline and differential # FUNCTION CNGA1_HUMAN Visual signal transduction is mediated by a G-protein coupled cascade using cGMP as second messenger. This protein can be activated by cyclic GMP which leads to an opening of the cation channel and thereby causing a depolarization of rod photoreceptors. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0042622 photoreceptor outer segment membrane; IEA:Ensembl. # GO_function GO:0005222 intracellular cAMP activated cation channel activity; IBA:GO_Central. # GO_function GO:0005223 intracellular cGMP activated cation channel activity; IBA:GO_Central. # GO_function GO:0005249 voltage-gated potassium channel activity; IBA:GO_Central. # GO_function GO:0030553 cGMP binding; IBA:GO_Central. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0007601 visual perception; TAS:ProtInc. # GO_process GO:0016056 rhodopsin mediated signaling pathway; TAS:Reactome. # GO_process GO:0022400 regulation of rhodopsin mediated signaling pathway; TAS:Reactome. # GO_process GO:0042391 regulation of membrane potential; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0050877 neurological system process # Gene3D 2.60.120.10 -; 1. # Genevisible P29973 HS # HGNC HGNC:2148 CNGA1 # INTERACTION CNGA1_HUMAN Q5ICW4 GRB14 (xeno); NbExp=4; IntAct=EBI-8417095, EBI-7639273; Q9JLM9 Grb14 (xeno); NbExp=2; IntAct=EBI-8417095, EBI-8347358; # IntAct P29973 2 # InterPro IPR000595 cNMP-bd_dom # InterPro IPR005821 Ion_trans_dom # InterPro IPR014710 RmlC-like_jellyroll # InterPro IPR018488 cNMP-bd_CS # InterPro IPR018490 cNMP-bd-like # InterPro IPR032406 CLZ_dom # InterPro IPR032945 CNGA1 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00527 [Inherited metabolic disease; Nervous system disease; Eye disease] Retinitis pigmentosa (RP) # KEGG_Pathway ko04744 Phototransduction # MIM 123825 gene # MIM 613756 phenotype # Organism CNGA1_HUMAN Homo sapiens (Human) # Orphanet 791 Retinitis pigmentosa # PANTHER PTHR10217:SF387 PTHR10217:SF387 # PIR A42161 A42161 # PROSITE PS00888 CNMP_BINDING_1 # PROSITE PS00889 CNMP_BINDING_2 # PROSITE PS50042 CNMP_BINDING_3 # Pfam PF00027 cNMP_binding # Pfam PF00520 Ion_trans # Pfam PF16526 CLZ # Proteomes UP000005640 Chromosome 4 # Reactome R-HSA-2485179 Activation of the phototransduction cascade # Reactome R-HSA-2514859 Inactivation, recovery and regulation of the phototransduction cascade # RecName CNGA1_HUMAN cGMP-gated cation channel alpha-1 # RefSeq NP_000078 NM_000087.3. [P29973-1] # RefSeq NP_001136036 NM_001142564.1. [P29973-2] # RefSeq XP_011511925 XM_011513623.2. [P29973-1] # RefSeq XP_016863201 XM_017007712.1. [P29973-1] # SEQUENCE CAUTION Sequence=AAB22778.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the cyclic nucleotide-gated cation channel (TC 1.A.1.5) family. CNGA1 subfamily. {ECO 0000305}. # SIMILARITY Contains 1 cyclic nucleotide-binding domain. {ECO:0000255|PROSITE-ProRule PRU00060}. # SMART SM00100 cNMP # SUBCELLULAR LOCATION CNGA1_HUMAN Membrane; Multi-pass membrane protein. # SUBUNIT Tetramer formed of three CNGA1 and one CNGB1 modulatory subunits. {ECO 0000250}. # SUPFAM SSF51206 SSF51206 # TCDB 1.A.1.5 the voltage-gated ion channel (vic) superfamily # TISSUE SPECIFICITY CNGA1_HUMAN Rod cells in the retina. # UCSC uc003gxt human. [P29973-1] # WEB RESOURCE CNGA1_HUMAN Name=Mutations of the CNGA1 gene; Note=Retina International's Scientific Newsletter; URL="http //www.retina-international.org/files/sci-news/cnga1mut.htm"; # eggNOG ENOG410YWWI LUCA # eggNOG KOG0500 Eukaryota BLAST swissprot:CNGA1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CNGA1_HUMAN BioCyc ZFISH:G66-33190-MONOMER http://biocyc.org/getid?id=ZFISH:G66-33190-MONOMER COXPRESdb 1259 http://coxpresdb.jp/data/gene/1259.shtml CleanEx HS_CNGA1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CNGA1 DOI 10.1016/0028-3908(94)90027-2 http://dx.doi.org/10.1016/0028-3908(94)90027-2 DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.92.22.10177 http://dx.doi.org/10.1073/pnas.92.22.10177 EMBL AC096749 http://www.ebi.ac.uk/ena/data/view/AC096749 EMBL AC107068 http://www.ebi.ac.uk/ena/data/view/AC107068 EMBL AK292021 http://www.ebi.ac.uk/ena/data/view/AK292021 EMBL CH471069 http://www.ebi.ac.uk/ena/data/view/CH471069 EMBL M84741 http://www.ebi.ac.uk/ena/data/view/M84741 EMBL S42457 http://www.ebi.ac.uk/ena/data/view/S42457 EMBL S76062 http://www.ebi.ac.uk/ena/data/view/S76062 Ensembl ENST00000358519 http://www.ensembl.org/id/ENST00000358519 Ensembl ENST00000402813 http://www.ensembl.org/id/ENST00000402813 Ensembl ENST00000420489 http://www.ensembl.org/id/ENST00000420489 Ensembl ENST00000514170 http://www.ensembl.org/id/ENST00000514170 Ensembl ENST00000544810 http://www.ensembl.org/id/ENST00000544810 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0042622 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042622 GO_function GO:0005222 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005222 GO_function GO:0005223 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005223 GO_function GO:0005249 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005249 GO_function GO:0030553 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030553 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0007601 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007601 GO_process GO:0016056 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016056 GO_process GO:0022400 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022400 GO_process GO:0042391 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042391 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 Gene3D 2.60.120.10 http://www.cathdb.info/version/latest/superfamily/2.60.120.10 GeneCards CNGA1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CNGA1 GeneID 1259 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=1259 GeneTree ENSGT00760000118772 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118772 H-InvDB HIX0031530 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0031530 H-InvDB HIX0031590 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0031590 HGNC HGNC:2148 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:2148 HOGENOM HOG000007898 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000007898&db=HOGENOM6 HOVERGEN HBG000281 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG000281&db=HOVERGEN HPA HPA059734 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA059734 InParanoid P29973 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P29973 IntAct P29973 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P29973* InterPro IPR000595 http://www.ebi.ac.uk/interpro/entry/IPR000595 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR014710 http://www.ebi.ac.uk/interpro/entry/IPR014710 InterPro IPR018488 http://www.ebi.ac.uk/interpro/entry/IPR018488 InterPro IPR018490 http://www.ebi.ac.uk/interpro/entry/IPR018490 InterPro IPR032406 http://www.ebi.ac.uk/interpro/entry/IPR032406 InterPro IPR032945 http://www.ebi.ac.uk/interpro/entry/IPR032945 Jabion 1259 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=1259 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00527 http://www.genome.jp/dbget-bin/www_bget?H00527 KEGG_Gene hsa:1259 http://www.genome.jp/dbget-bin/www_bget?hsa:1259 KEGG_Orthology KO:K04948 http://www.genome.jp/dbget-bin/www_bget?KO:K04948 KEGG_Pathway ko04744 http://www.genome.jp/kegg-bin/show_pathway?ko04744 MIM 123825 http://www.ncbi.nlm.nih.gov/omim/123825 MIM 613756 http://www.ncbi.nlm.nih.gov/omim/613756 MINT MINT-7004260 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-7004260 OMA YLEYWLI http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=YLEYWLI Orphanet 791 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=791 OrthoDB EOG091G03EW http://cegg.unige.ch/orthodb/results?searchtext=EOG091G03EW PANTHER PTHR10217:SF387 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10217:SF387 PROSITE PS00888 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00888 PROSITE PS00889 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00889 PROSITE PS50042 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50042 PSORT swissprot:CNGA1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CNGA1_HUMAN PSORT-B swissprot:CNGA1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CNGA1_HUMAN PSORT2 swissprot:CNGA1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CNGA1_HUMAN Pfam PF00027 http://pfam.xfam.org/family/PF00027 Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF16526 http://pfam.xfam.org/family/PF16526 PharmGKB PA26658 http://www.pharmgkb.org/do/serve?objId=PA26658&objCls=Gene Phobius swissprot:CNGA1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CNGA1_HUMAN PhylomeDB P29973 http://phylomedb.org/?seqid=P29973 ProteinModelPortal P29973 http://www.proteinmodelportal.org/query/uniprot/P29973 PubMed 1372902 http://www.ncbi.nlm.nih.gov/pubmed/1372902 PubMed 1379636 http://www.ncbi.nlm.nih.gov/pubmed/1379636 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15570217 http://www.ncbi.nlm.nih.gov/pubmed/15570217 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 PubMed 7479749 http://www.ncbi.nlm.nih.gov/pubmed/7479749 PubMed 7532814 http://www.ncbi.nlm.nih.gov/pubmed/7532814 Reactome R-HSA-2485179 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2485179 Reactome R-HSA-2514859 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2514859 RefSeq NP_000078 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000078 RefSeq NP_001136036 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001136036 RefSeq XP_011511925 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011511925 RefSeq XP_016863201 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016863201 SMART SM00100 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00100 SMR P29973 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P29973 STRING 9606.ENSP00000384264 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000384264&targetmode=cogs SUPFAM SSF51206 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF51206 TCDB 1.A.1.5 http://www.tcdb.org/search/result.php?tc=1.A.1.5 UCSC uc003gxt http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003gxt&org=rat UniGene Hs.1323 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.1323 UniProtKB CNGA1_HUMAN http://www.uniprot.org/uniprot/CNGA1_HUMAN UniProtKB-AC P29973 http://www.uniprot.org/uniprot/P29973 charge swissprot:CNGA1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CNGA1_HUMAN eggNOG ENOG410YWWI http://eggnogapi.embl.de/nog_data/html/tree/ENOG410YWWI eggNOG KOG0500 http://eggnogapi.embl.de/nog_data/html/tree/KOG0500 epestfind swissprot:CNGA1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CNGA1_HUMAN garnier swissprot:CNGA1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CNGA1_HUMAN helixturnhelix swissprot:CNGA1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CNGA1_HUMAN hmoment swissprot:CNGA1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CNGA1_HUMAN iep swissprot:CNGA1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CNGA1_HUMAN inforesidue swissprot:CNGA1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CNGA1_HUMAN neXtProt NX_P29973 http://www.nextprot.org/db/entry/NX_P29973 octanol swissprot:CNGA1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CNGA1_HUMAN pepcoil swissprot:CNGA1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CNGA1_HUMAN pepdigest swissprot:CNGA1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CNGA1_HUMAN pepinfo swissprot:CNGA1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CNGA1_HUMAN pepnet swissprot:CNGA1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CNGA1_HUMAN pepstats swissprot:CNGA1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CNGA1_HUMAN pepwheel swissprot:CNGA1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CNGA1_HUMAN pepwindow swissprot:CNGA1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CNGA1_HUMAN sigcleave swissprot:CNGA1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CNGA1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS MCATL_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q8N8R3-1; Sequence=Displayed; Name=2; IsoId=Q8N8R3-2; Sequence=VSP_046286, VSP_046287; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=3; IsoId=Q8N8R3-3; Sequence=VSP_055335; Note=No experimental confirmation available.; # AltName MCATL_HUMAN Carnitine/acylcarnitine translocase-like # AltName MCATL_HUMAN Mitochondrial carnitine/acylcarnitine carrier protein CACL # AltName MCATL_HUMAN Mitochondrial ornithine transporter 3 # AltName MCATL_HUMAN Solute carrier family 25 member 29 # CCDS CCDS32156 -. [Q8N8R3-1] # DrugBank DB00583 L-Carnitine # Ensembl ENST00000359232 ENSP00000352167; ENSG00000197119. [Q8N8R3-1] # Ensembl ENST00000392908 ENSP00000376640; ENSG00000197119. [Q8N8R3-2] # Ensembl ENST00000554912 ENSP00000450913; ENSG00000197119. [Q8N8R3-3] # Ensembl ENST00000555927 ENSP00000452078; ENSG00000197119. [Q8N8R3-3] # Ensembl ENST00000556505 ENSP00000452446; ENSG00000197119. [Q8N8R3-3] # ExpressionAtlas Q8N8R3 baseline and differential # FUNCTION MCATL_HUMAN Transports arginine, lysine, homoarginine, methylarginine and, to a much lesser extent, ornithine and histidine. Does not transport carnitine nor acylcarnitines. Functions by both counter-exchange and uniport mechanisms. {ECO 0000269|PubMed 19287344, ECO 0000269|PubMed 24652292}. # GO_component GO:0005743 mitochondrial inner membrane; IEA:UniProtKB-SubCell. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0015227 acyl carnitine transmembrane transporter activity; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # Gene3D 1.50.40.10 -; 1. # Genevisible Q8N8R3 HS # HGNC HGNC:20116 SLC25A29 # InterPro IPR002067 Mit_carrier # InterPro IPR018108 Mitochondrial_sb/sol_carrier # InterPro IPR023395 Mt_carrier_dom # KEGG_Brite ko02001 Solute carrier family # MIM 615064 gene # Organism MCATL_HUMAN Homo sapiens (Human) # PRINTS PR00926 MITOCARRIER # PROSITE PS50920 SOLCAR; 3 # Pfam PF00153 Mito_carr; 3 # Proteomes UP000005640 Chromosome 14 # RecName MCATL_HUMAN Mitochondrial basic amino acids transporter # RefSeq NP_001034444 NM_001039355.2. [Q8N8R3-1] # RefSeq NP_001278742 NM_001291813.1. [Q8N8R3-3] # RefSeq NP_001278743 NM_001291814.1. [Q8N8R3-3] # RefSeq NP_689546 NM_152333.3. [Q8N8R3-3] # RefSeq XP_011534748 XM_011536446.1. [Q8N8R3-3] # RefSeq XP_011534749 XM_011536447.1. [Q8N8R3-3] # RefSeq XP_011534750 XM_011536448.1. [Q8N8R3-3] # RefSeq XP_016876469 XM_017020980.1. [Q8N8R3-3] # RefSeq XP_016876470 XM_017020981.1. [Q8N8R3-3] # RefSeq XP_016876471 XM_017020982.1. [Q8N8R3-3] # RefSeq XP_016876472 XM_017020983.1. [Q8N8R3-3] # RefSeq XP_016876473 XM_017020984.1. [Q8N8R3-3] # RefSeq XP_016876474 XM_017020985.1. [Q8N8R3-3] # RefSeq XP_016876475 XM_017020986.1. [Q8N8R3-3] # RefSeq XP_016876476 XM_017020987.1. [Q8N8R3-3] # SEQUENCE CAUTION Sequence=CAD62317.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the mitochondrial carrier (TC 2.A.29) family. {ECO 0000305}. # SIMILARITY Contains 3 Solcar repeats. {ECO:0000255|PROSITE- ProRule PRU00282}. # SUBCELLULAR LOCATION MCATL_HUMAN Mitochondrion inner membrane {ECO 0000269|PubMed 19287344}; Multi-pass membrane protein {ECO 0000269|PubMed 19287344}. # SUPFAM SSF103506 SSF103506 # TCDB 2.A.29.8 the mitochondrial carrier (mc) family # UCSC uc001yha human. [Q8N8R3-1] # eggNOG ENOG410XS86 LUCA # eggNOG KOG0758 Eukaryota BLAST swissprot:MCATL_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:MCATL_HUMAN BioCyc ZFISH:G66-32232-MONOMER http://biocyc.org/getid?id=ZFISH:G66-32232-MONOMER COXPRESdb 123096 http://coxpresdb.jp/data/gene/123096.shtml CleanEx HS_SLC25A29 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC25A29 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1038/nature01348 http://dx.doi.org/10.1038/nature01348 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.M114.547448 http://dx.doi.org/10.1074/jbc.M114.547448 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1203/PDR.0b013e3181a283c1 http://dx.doi.org/10.1203/PDR.0b013e3181a283c1 DrugBank DB00583 http://www.drugbank.ca/drugs/DB00583 EMBL AK095532 http://www.ebi.ac.uk/ena/data/view/AK095532 EMBL AK096294 http://www.ebi.ac.uk/ena/data/view/AK096294 EMBL AK123821 http://www.ebi.ac.uk/ena/data/view/AK123821 EMBL AK172788 http://www.ebi.ac.uk/ena/data/view/AK172788 EMBL AK289627 http://www.ebi.ac.uk/ena/data/view/AK289627 EMBL AL157871 http://www.ebi.ac.uk/ena/data/view/AL157871 EMBL BC132964 http://www.ebi.ac.uk/ena/data/view/BC132964 EMBL BC132966 http://www.ebi.ac.uk/ena/data/view/BC132966 EMBL BX247983 http://www.ebi.ac.uk/ena/data/view/BX247983 EMBL CH471061 http://www.ebi.ac.uk/ena/data/view/CH471061 EMBL CH471061 http://www.ebi.ac.uk/ena/data/view/CH471061 Ensembl ENST00000359232 http://www.ensembl.org/id/ENST00000359232 Ensembl ENST00000392908 http://www.ensembl.org/id/ENST00000392908 Ensembl ENST00000554912 http://www.ensembl.org/id/ENST00000554912 Ensembl ENST00000555927 http://www.ensembl.org/id/ENST00000555927 Ensembl ENST00000556505 http://www.ensembl.org/id/ENST00000556505 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0015227 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015227 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 Gene3D 1.50.40.10 http://www.cathdb.info/version/latest/superfamily/1.50.40.10 GeneCards SLC25A29 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC25A29 GeneID 123096 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=123096 GeneTree ENSGT00700000104295 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00700000104295 HGNC HGNC:20116 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:20116 HOGENOM HOG000168307 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000168307&db=HOGENOM6 HOVERGEN HBG003500 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG003500&db=HOVERGEN HPA HPA030781 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA030781 InParanoid Q8N8R3 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8N8R3 InterPro IPR002067 http://www.ebi.ac.uk/interpro/entry/IPR002067 InterPro IPR018108 http://www.ebi.ac.uk/interpro/entry/IPR018108 InterPro IPR023395 http://www.ebi.ac.uk/interpro/entry/IPR023395 Jabion 123096 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=123096 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:123096 http://www.genome.jp/dbget-bin/www_bget?hsa:123096 KEGG_Orthology KO:K15109 http://www.genome.jp/dbget-bin/www_bget?KO:K15109 MIM 615064 http://www.ncbi.nlm.nih.gov/omim/615064 OMA ETPSFGF http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=ETPSFGF OrthoDB EOG091G0HVE http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0HVE PRINTS PR00926 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00926 PROSITE PS50920 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50920 PSORT swissprot:MCATL_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:MCATL_HUMAN PSORT-B swissprot:MCATL_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:MCATL_HUMAN PSORT2 swissprot:MCATL_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:MCATL_HUMAN Pfam PF00153 http://pfam.xfam.org/family/PF00153 PharmGKB PA134980581 http://www.pharmgkb.org/do/serve?objId=PA134980581&objCls=Gene Phobius swissprot:MCATL_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:MCATL_HUMAN PhylomeDB Q8N8R3 http://phylomedb.org/?seqid=Q8N8R3 ProteinModelPortal Q8N8R3 http://www.proteinmodelportal.org/query/uniprot/Q8N8R3 PubMed 12508121 http://www.ncbi.nlm.nih.gov/pubmed/12508121 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 19287344 http://www.ncbi.nlm.nih.gov/pubmed/19287344 PubMed 24652292 http://www.ncbi.nlm.nih.gov/pubmed/24652292 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 RefSeq NP_001034444 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001034444 RefSeq NP_001278742 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001278742 RefSeq NP_001278743 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001278743 RefSeq NP_689546 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_689546 RefSeq XP_011534748 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011534748 RefSeq XP_011534749 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011534749 RefSeq XP_011534750 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011534750 RefSeq XP_016876469 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016876469 RefSeq XP_016876470 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016876470 RefSeq XP_016876471 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016876471 RefSeq XP_016876472 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016876472 RefSeq XP_016876473 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016876473 RefSeq XP_016876474 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016876474 RefSeq XP_016876475 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016876475 RefSeq XP_016876476 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016876476 STRING 9606.ENSP00000352167 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000352167&targetmode=cogs SUPFAM SSF103506 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103506 TCDB 2.A.29.8 http://www.tcdb.org/search/result.php?tc=2.A.29.8 UCSC uc001yha http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001yha&org=rat UniGene Hs.578109 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.578109 UniProtKB MCATL_HUMAN http://www.uniprot.org/uniprot/MCATL_HUMAN UniProtKB-AC Q8N8R3 http://www.uniprot.org/uniprot/Q8N8R3 charge swissprot:MCATL_HUMAN http://rest.g-language.org/emboss/charge/swissprot:MCATL_HUMAN eggNOG ENOG410XS86 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XS86 eggNOG KOG0758 http://eggnogapi.embl.de/nog_data/html/tree/KOG0758 epestfind swissprot:MCATL_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:MCATL_HUMAN garnier swissprot:MCATL_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:MCATL_HUMAN helixturnhelix swissprot:MCATL_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:MCATL_HUMAN hmoment swissprot:MCATL_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:MCATL_HUMAN iep swissprot:MCATL_HUMAN http://rest.g-language.org/emboss/iep/swissprot:MCATL_HUMAN inforesidue swissprot:MCATL_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:MCATL_HUMAN neXtProt NX_Q8N8R3 http://www.nextprot.org/db/entry/NX_Q8N8R3 octanol swissprot:MCATL_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:MCATL_HUMAN pepcoil swissprot:MCATL_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:MCATL_HUMAN pepdigest swissprot:MCATL_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:MCATL_HUMAN pepinfo swissprot:MCATL_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:MCATL_HUMAN pepnet swissprot:MCATL_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:MCATL_HUMAN pepstats swissprot:MCATL_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:MCATL_HUMAN pepwheel swissprot:MCATL_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:MCATL_HUMAN pepwindow swissprot:MCATL_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:MCATL_HUMAN sigcleave swissprot:MCATL_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:MCATL_HUMAN ## Database ID URL or Descriptions # AltName CUL5_HUMAN Vasopressin-activated calcium-mobilizing receptor 1 # BioGrid 113743 444 # ChiTaRS CUL5 human # Ensembl ENST00000393094 ENSP00000376808; ENSG00000166266 # Ensembl ENST00000531427 ENSP00000435376; ENSG00000166266 # ExpressionAtlas Q93034 baseline and differential # FUNCTION CUL5_HUMAN Core component of multiple SCF-like ECS (Elongin-Cullin 2/5-SOCS-box protein) E3 ubiquitin-protein ligase complexes, which mediate the ubiquitination and subsequent proteasomal degradation of target proteins. As a scaffold protein may contribute to catalysis through positioning of the substrate and the ubiquitin- conjugating enzyme. The functional specificity of the E3 ubiquitin-protein ligase complex depends on the variable substrate recognition component. ECS(SOCS1) seems to direct ubiquitination of JAK2. Seems to be involved in proteosomal degradation of p53/TP53 stimulated by adenovirus E1B-55 kDa protein. May form a cell surface vasopressin receptor. # GO_component GO:0005829 cytosol; TAS:Reactome. # GO_component GO:0031466 Cul5-RING ubiquitin ligase complex; IDA:UniProtKB. # GO_function GO:0004842 ubiquitin-protein transferase activity; TAS:Reactome. # GO_function GO:0004872 receptor activity; TAS:ProtInc. # GO_function GO:0005262 calcium channel activity; TAS:ProtInc. # GO_function GO:0031625 ubiquitin protein ligase binding; IDA:UniProtKB. # GO_process GO:0000082 G1/S transition of mitotic cell cycle; TAS:ProtInc. # GO_process GO:0007050 cell cycle arrest; TAS:ProtInc. # GO_process GO:0008283 cell proliferation; TAS:ProtInc. # GO_process GO:0008285 negative regulation of cell proliferation; TAS:ProtInc. # GO_process GO:0016032 viral process; IEA:UniProtKB-KW. # GO_process GO:0038128 ERBB2 signaling pathway; TAS:Reactome. # GO_process GO:0042787 protein ubiquitination involved in ubiquitin-dependent protein catabolic process; IBA:GO_Central. # GO_process GO:0097193 intrinsic apoptotic signaling pathway; TAS:ProtInc. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005829 cytosol # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0019899 enzyme binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006464 cellular protein modification process # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0008283 cell proliferation # GOslim_process GO:0044403 symbiosis, encompassing mutualism through parasitism # Gene3D 1.10.10.10 -; 2. # Genevisible Q93034 HS # HGNC HGNC:2556 CUL5 # INTERACTION CUL5_HUMAN O95376 ARIH2; NbExp=12; IntAct=EBI-1057139, EBI-711158; Q96Q27 ASB2; NbExp=4; IntAct=EBI-1057139, EBI-2880677; O95273 CCNDBP1; NbExp=3; IntAct=EBI-1057139, EBI-748961; O41974 GAMMAHV.ORF73 (xeno); NbExp=2; IntAct=EBI-1057139, EBI-6933128; Q08379 GOLGA2; NbExp=3; IntAct=EBI-1057139, EBI-618309; P62877 RBX1; NbExp=3; IntAct=EBI-1057139, EBI-398523; Q9UBF6 RNF7; NbExp=6; IntAct=EBI-1057139, EBI-398632; P12504 vif (xeno); NbExp=5; IntAct=EBI-1057139, EBI-779991; # IntAct Q93034 42 # InterPro IPR001373 Cullin_N # InterPro IPR011991 WHTH_DNA-bd_dom # InterPro IPR016157 Cullin_CS # InterPro IPR016158 Cullin_homology # InterPro IPR016159 Cullin_repeat-like_dom # InterPro IPR019559 Cullin_neddylation_domain # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Brite ko03400 DNA repair and recombination proteins # KEGG_Brite ko04121 M00388 ECS complex # KEGG_Brite ko04121 Ubiquitin system # KEGG_Pathway ko04120 Ubiquitin mediated proteolysis # MIM 601741 gene # Organism CUL5_HUMAN Homo sapiens (Human) # PATHWAY CUL5_HUMAN Protein modification; protein ubiquitination. # PDB 3DPL X-ray; 2.60 A; C=401-780 # PDB 3DQV X-ray; 3.00 A; C/D=401-780 # PDB 4JGH X-ray; 3.00 A; D=10-386 # PDB 4N9F X-ray; 3.30 A; 3/9/C/I/O/U/V/f/l/r/w/x=12-321 # PROSITE PS01256 CULLIN_1 # PROSITE PS50069 CULLIN_2 # PTM CUL5_HUMAN Neddylated; which enhances the ubiquitination activity of SCF and prevents binding of the inhibitor CAND1. Deneddylated via its interaction with the COP9 signalosome (CSN). {ECO 0000269|PubMed 10597293, ECO 0000269|PubMed 12186903, ECO 0000269|PubMed 18805092, ECO 0000269|PubMed 24076655}. # Pfam PF00888 Cullin # Pfam PF10557 Cullin_Nedd8 # Proteomes UP000005640 Chromosome 11 # Reactome R-HSA-180585 Vif-mediated degradation of APOBEC3G # Reactome R-HSA-8863795 Downregulation of ERBB2 signaling # Reactome R-HSA-983168:Antigen processing Ubiquitination & Proteasome degradation # RecName CUL5_HUMAN Cullin-5 # RefSeq NP_003469 NM_003478.3 # SIMILARITY Belongs to the cullin family. {ECO:0000255|PROSITE- ProRule PRU00330}. # SMART SM00182 CULLIN # SMART SM00884 Cullin_Nedd8 # SUBUNIT (Microbial infection) The substrate recognition component can also be a viral protein such as HIV Vif, or human adenovirus 5 E1B large T-antigen and E4-orf6. {ECO:0000269|PubMed 12186903}. # SUBUNIT CUL5_HUMAN Component of multiple ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complexes formed of CUL5, Elongin BC (TCEB1 and TCEB2), RBX2 and a variable SOCS box domain- containing protein as substrate-specific recognition component. Component of the probable ECS(LRRC41) complex with the substrate recognition component LRRC41. Component of the probable ECS(SOCS1) complex with the substrate recognition component SOCS1. Component of the probable ECS(WSB1) complex with the substrate recognition subunit WSB1. Component of the probable ECS(SOCS3) complex with the substrate recognition component SOCS3. Component of the probable ECS(SPSB1) complex with the substrate recognition component SPSB1. Component of the probable ECS(SPSB2) complex with the substrate recognition component SPSB2. Component of the probable ECS(SPSB4) complex with the substrate recognition component SPSB4. Component of the probable ECS(RAB40C) complex with the substrate recognition subunit RAB40C. May also form complexes containing CUL5, elongin BC complex (TCEB1 and TCEB2), RBX1 and TCEB3. May also form complexes containing CUL5, Elongin BC (TCEB1 and TCEB2), RBX1 and VHL. Interacts with RNF7/RBX2, LRRC41, SOCS3, SPSB1, SPSB2, SPSB4 and RAB40C. Interacts with ASB1, ASB2, ASB6, ASB7 and ASB12. Interacts (when neddylated) with ARIH2; leading to activate the E3 ligase activity of ARIH1 (PubMed 24076655). {ECO 0000269|PubMed 10230407, ECO 0000269|PubMed 11384984, ECO 0000269|PubMed 15574592, ECO 0000269|PubMed 15601820, ECO 0000269|PubMed 16325183, ECO 0000269|PubMed 18805092, ECO 0000269|PubMed 24076655}. # SUPFAM SSF46785 SSF46785 # SUPFAM SSF74788 SSF74788 # SUPFAM SSF75632 SSF75632 # UCSC uc001pjv human # eggNOG COG5647 LUCA # eggNOG KOG2285 Eukaryota BLAST swissprot:CUL5_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CUL5_HUMAN BioCyc ZFISH:ENSG00000166266-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000166266-MONOMER COXPRESdb 8065 http://coxpresdb.jp/data/gene/8065.shtml CleanEx HS_CUL5 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CUL5 DIP DIP-43696N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-43696N DOI 10.1016/S1097-2765(00)80482-7 http://dx.doi.org/10.1016/S1097-2765(00)80482-7 DOI 10.1016/j.cell.2008.07.022 http://dx.doi.org/10.1016/j.cell.2008.07.022 DOI 10.1016/j.febslet.2005.11.016 http://dx.doi.org/10.1016/j.febslet.2005.11.016 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/emboj.2013.209 http://dx.doi.org/10.1038/emboj.2013.209 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1038/sj.onc.1203093 http://dx.doi.org/10.1038/sj.onc.1203093 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1074/jbc.M103093200 http://dx.doi.org/10.1074/jbc.M103093200 DOI 10.1101/gad.1249904 http://dx.doi.org/10.1101/gad.1249904 DOI 10.1101/gad.1252404 http://dx.doi.org/10.1101/gad.1252404 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1101/gr.7.1.71 http://dx.doi.org/10.1101/gr.7.1.71 DOI 10.1128/JVI.76.18.9194-9206.2002 http://dx.doi.org/10.1128/JVI.76.18.9194-9206.2002 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AF017061 http://www.ebi.ac.uk/ena/data/view/AF017061 EMBL AF327710 http://www.ebi.ac.uk/ena/data/view/AF327710 EMBL AK292575 http://www.ebi.ac.uk/ena/data/view/AK292575 EMBL BC063306 http://www.ebi.ac.uk/ena/data/view/BC063306 EMBL CH471065 http://www.ebi.ac.uk/ena/data/view/CH471065 EMBL X81882 http://www.ebi.ac.uk/ena/data/view/X81882 Ensembl ENST00000393094 http://www.ensembl.org/id/ENST00000393094 Ensembl ENST00000531427 http://www.ensembl.org/id/ENST00000531427 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0031466 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031466 GO_function GO:0004842 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004842 GO_function GO:0004872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004872 GO_function GO:0005262 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005262 GO_function GO:0031625 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031625 GO_process GO:0000082 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000082 GO_process GO:0007050 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007050 GO_process GO:0008283 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008283 GO_process GO:0008285 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008285 GO_process GO:0016032 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016032 GO_process GO:0038128 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0038128 GO_process GO:0042787 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042787 GO_process GO:0097193 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097193 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006464 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006464 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0008283 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008283 GOslim_process GO:0044403 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044403 Gene3D 1.10.10.10 http://www.cathdb.info/version/latest/superfamily/1.10.10.10 GeneCards CUL5 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CUL5 GeneID 8065 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=8065 GeneTree ENSGT00760000119212 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119212 HGNC HGNC:2556 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:2556 HOGENOM HOG000007610 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000007610&db=HOGENOM6 HOVERGEN HBG099672 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG099672&db=HOVERGEN HPA CAB017787 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB017787 HPA HPA002185 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA002185 InParanoid Q93034 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q93034 IntAct Q93034 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q93034* InterPro IPR001373 http://www.ebi.ac.uk/interpro/entry/IPR001373 InterPro IPR011991 http://www.ebi.ac.uk/interpro/entry/IPR011991 InterPro IPR016157 http://www.ebi.ac.uk/interpro/entry/IPR016157 InterPro IPR016158 http://www.ebi.ac.uk/interpro/entry/IPR016158 InterPro IPR016159 http://www.ebi.ac.uk/interpro/entry/IPR016159 InterPro IPR019559 http://www.ebi.ac.uk/interpro/entry/IPR019559 Jabion 8065 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=8065 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00002 http://www.genome.jp/dbget-bin/www_bget?ko00002 KEGG_Brite ko03400 http://www.genome.jp/dbget-bin/www_bget?ko03400 KEGG_Brite ko04121 http://www.genome.jp/dbget-bin/www_bget?ko04121 KEGG_Brite ko04121 http://www.genome.jp/dbget-bin/www_bget?ko04121 KEGG_Gene hsa:8065 http://www.genome.jp/dbget-bin/www_bget?hsa:8065 KEGG_Orthology KO:K10612 http://www.genome.jp/dbget-bin/www_bget?KO:K10612 KEGG_Pathway ko04120 http://www.genome.jp/kegg-bin/show_pathway?ko04120 MIM 601741 http://www.ncbi.nlm.nih.gov/omim/601741 MINT MINT-1184052 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1184052 OMA NQEFAIV http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=NQEFAIV OrthoDB EOG091G02MQ http://cegg.unige.ch/orthodb/results?searchtext=EOG091G02MQ PDB 3DPL http://www.ebi.ac.uk/pdbe-srv/view/entry/3DPL PDB 3DQV http://www.ebi.ac.uk/pdbe-srv/view/entry/3DQV PDB 4JGH http://www.ebi.ac.uk/pdbe-srv/view/entry/4JGH PDB 4N9F http://www.ebi.ac.uk/pdbe-srv/view/entry/4N9F PDBsum 3DPL http://www.ebi.ac.uk/pdbsum/3DPL PDBsum 3DQV http://www.ebi.ac.uk/pdbsum/3DQV PDBsum 4JGH http://www.ebi.ac.uk/pdbsum/4JGH PDBsum 4N9F http://www.ebi.ac.uk/pdbsum/4N9F PROSITE PS01256 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS01256 PROSITE PS50069 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50069 PSORT swissprot:CUL5_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CUL5_HUMAN PSORT-B swissprot:CUL5_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CUL5_HUMAN PSORT2 swissprot:CUL5_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CUL5_HUMAN Pfam PF00888 http://pfam.xfam.org/family/PF00888 Pfam PF10557 http://pfam.xfam.org/family/PF10557 PharmGKB PA27052 http://www.pharmgkb.org/do/serve?objId=PA27052&objCls=Gene Phobius swissprot:CUL5_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CUL5_HUMAN PhylomeDB Q93034 http://phylomedb.org/?seqid=Q93034 ProteinModelPortal Q93034 http://www.proteinmodelportal.org/query/uniprot/Q93034 PubMed 10230407 http://www.ncbi.nlm.nih.gov/pubmed/10230407 PubMed 10597293 http://www.ncbi.nlm.nih.gov/pubmed/10597293 PubMed 11384984 http://www.ncbi.nlm.nih.gov/pubmed/11384984 PubMed 12186903 http://www.ncbi.nlm.nih.gov/pubmed/12186903 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15574592 http://www.ncbi.nlm.nih.gov/pubmed/15574592 PubMed 15601820 http://www.ncbi.nlm.nih.gov/pubmed/15601820 PubMed 16325183 http://www.ncbi.nlm.nih.gov/pubmed/16325183 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 18805092 http://www.ncbi.nlm.nih.gov/pubmed/18805092 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 24076655 http://www.ncbi.nlm.nih.gov/pubmed/24076655 PubMed 9037604 http://www.ncbi.nlm.nih.gov/pubmed/9037604 Reactome R-HSA-180585 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-180585 Reactome R-HSA-8863795 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-8863795 Reactome R-HSA-983168 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-983168 RefSeq NP_003469 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_003469 SMART SM00182 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00182 SMART SM00884 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00884 SMR Q93034 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q93034 STRING 9606.ENSP00000376808 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000376808&targetmode=cogs SUPFAM SSF46785 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF46785 SUPFAM SSF74788 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF74788 SUPFAM SSF75632 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF75632 UCSC uc001pjv http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001pjv&org=rat UniGene Hs.440320 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.440320 UniProtKB CUL5_HUMAN http://www.uniprot.org/uniprot/CUL5_HUMAN UniProtKB-AC Q93034 http://www.uniprot.org/uniprot/Q93034 charge swissprot:CUL5_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CUL5_HUMAN eggNOG COG5647 http://eggnogapi.embl.de/nog_data/html/tree/COG5647 eggNOG KOG2285 http://eggnogapi.embl.de/nog_data/html/tree/KOG2285 epestfind swissprot:CUL5_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CUL5_HUMAN garnier swissprot:CUL5_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CUL5_HUMAN helixturnhelix swissprot:CUL5_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CUL5_HUMAN hmoment swissprot:CUL5_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CUL5_HUMAN iep swissprot:CUL5_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CUL5_HUMAN inforesidue swissprot:CUL5_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CUL5_HUMAN neXtProt NX_Q93034 http://www.nextprot.org/db/entry/NX_Q93034 octanol swissprot:CUL5_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CUL5_HUMAN pepcoil swissprot:CUL5_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CUL5_HUMAN pepdigest swissprot:CUL5_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CUL5_HUMAN pepinfo swissprot:CUL5_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CUL5_HUMAN pepnet swissprot:CUL5_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CUL5_HUMAN pepstats swissprot:CUL5_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CUL5_HUMAN pepwheel swissprot:CUL5_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CUL5_HUMAN pepwindow swissprot:CUL5_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CUL5_HUMAN sigcleave swissprot:CUL5_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CUL5_HUMAN ## Database ID URL or Descriptions # AltName XPOT_HUMAN Exportin(tRNA) # AltName XPOT_HUMAN tRNA exportin # BioGrid 116420 42 # ChiTaRS XPOT human # Ensembl ENST00000332707 ENSP00000327821; ENSG00000184575 # ExpressionAtlas O43592 baseline and differential # FUNCTION XPOT_HUMAN Mediates the nuclear export of aminoacylated tRNAs. In the nucleus binds to tRNA and to the GTPase Ran in its active GTP- bound form. Docking of this trimeric complex to the nuclear pore complex (NPC) is mediated through binding to nucleoporins. Upon transit of a nuclear export complex into the cytoplasm, disassembling of the complex and hydrolysis of Ran-GTP to Ran-GDP (induced by RANBP1 and RANGAP1, respectively) cause release of the tRNA from the export receptor. XPOT then return to the nuclear compartment and mediate another round of transport. The directionality of nuclear export is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. {ECO 0000269|PubMed 12138183, ECO 0000269|PubMed 9512417, ECO 0000269|PubMed 9660920}. # GO_component GO:0005654 nucleoplasm; IDA:UniProtKB. # GO_component GO:0005737 cytoplasm; IDA:UniProtKB. # GO_component GO:0005829 cytosol; TAS:Reactome. # GO_component GO:0016363 nuclear matrix; IBA:GO_Central. # GO_function GO:0000049 tRNA binding; IDA:UniProtKB. # GO_function GO:0008536 Ran GTPase binding; IBA:GO_Central. # GO_function GO:0015932 nucleobase-containing compound transmembrane transporter activity; IBA:GO_Central. # GO_process GO:0006409 tRNA export from nucleus; IDA:UniProtKB. # GO_process GO:0006886 intracellular protein transport; IEA:InterPro. # GO_process GO:0071528 tRNA re-export from nucleus; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005654 nucleoplasm # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005829 cytosol # GOslim_function GO:0003723 RNA binding # GOslim_function GO:0019899 enzyme binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0006913 nucleocytoplasmic transport # Gene3D 1.25.10.10 -; 2. # Genevisible O43592 HS # HGNC HGNC:12826 XPOT # IntAct O43592 23 # InterPro IPR001494 Importin-beta_N # InterPro IPR011989 ARM-like # InterPro IPR013598 Exportin-1/Importin-b-like # InterPro IPR016024 ARM-type_fold # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko03016 Transfer RNA biogenesis # KEGG_Pathway ko03013 RNA transport # MIM 603180 gene # Organism XPOT_HUMAN Homo sapiens (Human) # Pfam PF03810 IBN_N # Pfam PF08389 Xpo1 # Proteomes UP000005640 Chromosome 12 # Reactome R-HSA-6784531 tRNA processing in the nucleus # RecName XPOT_HUMAN Exportin-T # RefSeq NP_009166 NM_007235.4 # RefSeq XP_016874237 XM_017018748.1 # SIMILARITY Belongs to the exportin family. {ECO 0000305}. # SMART SM00913 IBN_N # SUBCELLULAR LOCATION XPOT_HUMAN Nucleus. Cytoplasm. Note=Nuclear, once bound to tRNA and Ran the complex translocates to the cytoplasm. Shuttles between the nucleus and the cytoplasm. # SUBUNIT XPOT_HUMAN Found in a complex with XPOT, Ran and tRNA. Probably found in a complex with nucleoporins. Interacts with Ran and tRNA in a GTP-dependent manner. {ECO 0000269|PubMed 12138183, ECO 0000269|PubMed 9512417, ECO 0000269|PubMed 9660920}. # SUPFAM SSF48371 SSF48371; 2 # TCDB 1.I.1.1 the nuclear pore complex (npc) family # UCSC uc001ssb human # eggNOG ENOG410XZDZ LUCA # eggNOG KOG2021 Eukaryota BLAST swissprot:XPOT_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:XPOT_HUMAN BioCyc ZFISH:G66-33500-MONOMER http://biocyc.org/getid?id=ZFISH:G66-33500-MONOMER COXPRESdb 11260 http://coxpresdb.jp/data/gene/11260.shtml CleanEx HS_XPOT http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_XPOT DOI 10.1016/S0960-9822(98)70130-7 http://dx.doi.org/10.1016/S0960-9822(98)70130-7 DOI 10.1016/S1097-2765(00)80036-2 http://dx.doi.org/10.1016/S1097-2765(00)80036-2 DOI 10.1021/ac9004309 http://dx.doi.org/10.1021/ac9004309 DOI 10.1038/nature04569 http://dx.doi.org/10.1038/nature04569 DOI 10.1073/pnas.1210303109 http://dx.doi.org/10.1073/pnas.1210303109 DOI 10.1074/mcp.M111.015131 http://dx.doi.org/10.1074/mcp.M111.015131 DOI 10.1093/emboj/17.24.7430 http://dx.doi.org/10.1093/emboj/17.24.7430 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1175371 http://dx.doi.org/10.1126/science.1175371 DOI 10.1128/MCB.22.16.5708-5720.2002 http://dx.doi.org/10.1128/MCB.22.16.5708-5720.2002 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AC135279 http://www.ebi.ac.uk/ena/data/view/AC135279 EMBL AF039022 http://www.ebi.ac.uk/ena/data/view/AF039022 EMBL BC000950 http://www.ebi.ac.uk/ena/data/view/BC000950 EMBL BC020569 http://www.ebi.ac.uk/ena/data/view/BC020569 EMBL Y16414 http://www.ebi.ac.uk/ena/data/view/Y16414 Ensembl ENST00000332707 http://www.ensembl.org/id/ENST00000332707 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0016363 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016363 GO_function GO:0000049 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000049 GO_function GO:0008536 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008536 GO_function GO:0015932 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015932 GO_process GO:0006409 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006409 GO_process GO:0006886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006886 GO_process GO:0071528 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071528 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_function GO:0003723 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003723 GOslim_function GO:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006913 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006913 Gene3D 1.25.10.10 http://www.cathdb.info/version/latest/superfamily/1.25.10.10 GeneCards XPOT http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=XPOT GeneID 11260 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=11260 GeneTree ENSGT00390000007890 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000007890 HGNC HGNC:12826 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:12826 HOGENOM HOG000007104 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000007104&db=HOGENOM6 HOVERGEN HBG094163 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG094163&db=HOVERGEN HPA HPA048067 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA048067 HPA HPA057602 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA057602 InParanoid O43592 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O43592 IntAct O43592 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O43592* InterPro IPR001494 http://www.ebi.ac.uk/interpro/entry/IPR001494 InterPro IPR011989 http://www.ebi.ac.uk/interpro/entry/IPR011989 InterPro IPR013598 http://www.ebi.ac.uk/interpro/entry/IPR013598 InterPro IPR016024 http://www.ebi.ac.uk/interpro/entry/IPR016024 Jabion 11260 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=11260 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko03016 http://www.genome.jp/dbget-bin/www_bget?ko03016 KEGG_Gene hsa:11260 http://www.genome.jp/dbget-bin/www_bget?hsa:11260 KEGG_Orthology KO:K14288 http://www.genome.jp/dbget-bin/www_bget?KO:K14288 KEGG_Pathway ko03013 http://www.genome.jp/kegg-bin/show_pathway?ko03013 MIM 603180 http://www.ncbi.nlm.nih.gov/omim/603180 MINT MINT-1138512 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1138512 OMA MRYDETS http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=MRYDETS OrthoDB EOG091G04A1 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G04A1 PSORT swissprot:XPOT_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:XPOT_HUMAN PSORT-B swissprot:XPOT_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:XPOT_HUMAN PSORT2 swissprot:XPOT_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:XPOT_HUMAN Pfam PF03810 http://pfam.xfam.org/family/PF03810 Pfam PF08389 http://pfam.xfam.org/family/PF08389 PharmGKB PA37419 http://www.pharmgkb.org/do/serve?objId=PA37419&objCls=Gene Phobius swissprot:XPOT_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:XPOT_HUMAN PhylomeDB O43592 http://phylomedb.org/?seqid=O43592 ProteinModelPortal O43592 http://www.proteinmodelportal.org/query/uniprot/O43592 PubMed 12138183 http://www.ncbi.nlm.nih.gov/pubmed/12138183 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16541075 http://www.ncbi.nlm.nih.gov/pubmed/16541075 PubMed 19413330 http://www.ncbi.nlm.nih.gov/pubmed/19413330 PubMed 19608861 http://www.ncbi.nlm.nih.gov/pubmed/19608861 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 22223895 http://www.ncbi.nlm.nih.gov/pubmed/22223895 PubMed 22814378 http://www.ncbi.nlm.nih.gov/pubmed/22814378 PubMed 9512417 http://www.ncbi.nlm.nih.gov/pubmed/9512417 PubMed 9660920 http://www.ncbi.nlm.nih.gov/pubmed/9660920 PubMed 9857198 http://www.ncbi.nlm.nih.gov/pubmed/9857198 Reactome R-HSA-6784531 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6784531 RefSeq NP_009166 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_009166 RefSeq XP_016874237 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016874237 SMART SM00913 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00913 SMR O43592 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=O43592 STRING 9606.ENSP00000327821 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000327821&targetmode=cogs SUPFAM SSF48371 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48371 TCDB 1.I.1.1 http://www.tcdb.org/search/result.php?tc=1.I.1.1 UCSC uc001ssb http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001ssb&org=rat UniGene Hs.592579 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.592579 UniGene Hs.85951 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.85951 UniProtKB XPOT_HUMAN http://www.uniprot.org/uniprot/XPOT_HUMAN UniProtKB-AC O43592 http://www.uniprot.org/uniprot/O43592 charge swissprot:XPOT_HUMAN http://rest.g-language.org/emboss/charge/swissprot:XPOT_HUMAN eggNOG ENOG410XZDZ http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XZDZ eggNOG KOG2021 http://eggnogapi.embl.de/nog_data/html/tree/KOG2021 epestfind swissprot:XPOT_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:XPOT_HUMAN garnier swissprot:XPOT_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:XPOT_HUMAN helixturnhelix swissprot:XPOT_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:XPOT_HUMAN hmoment swissprot:XPOT_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:XPOT_HUMAN iep swissprot:XPOT_HUMAN http://rest.g-language.org/emboss/iep/swissprot:XPOT_HUMAN inforesidue swissprot:XPOT_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:XPOT_HUMAN neXtProt NX_O43592 http://www.nextprot.org/db/entry/NX_O43592 octanol swissprot:XPOT_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:XPOT_HUMAN pepcoil swissprot:XPOT_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:XPOT_HUMAN pepdigest swissprot:XPOT_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:XPOT_HUMAN pepinfo swissprot:XPOT_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:XPOT_HUMAN pepnet swissprot:XPOT_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:XPOT_HUMAN pepstats swissprot:XPOT_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:XPOT_HUMAN pepwheel swissprot:XPOT_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:XPOT_HUMAN pepwindow swissprot:XPOT_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:XPOT_HUMAN sigcleave swissprot:XPOT_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:XPOT_HUMAN ## Database ID URL or Descriptions # BioGrid 117722 70 # ChiTaRS TIMM13 human # DOMAIN TIM13_HUMAN The twin CX3C motif contains 4 conserved Cys residues that form 2 disulfide bonds in the mitochondrial intermembrane space. However, during the transit of TIMM13 from cytoplasm into mitochondrion, the Cys residues probably coordinate zinc, thereby preventing folding and allowing its transfer across mitochondrial outer membrane (By similarity). {ECO 0000250}. # Ensembl ENST00000215570 ENSP00000215570; ENSG00000099800 # ExpressionAtlas Q9Y5L4 baseline and differential # FUNCTION TIM13_HUMAN Mitochondrial intermembrane chaperone that participates in the import and insertion of some multi-pass transmembrane proteins into the mitochondrial inner membrane. Also required for the transfer of beta-barrel precursors from the TOM complex to the sorting and assembly machinery (SAM complex) of the outer membrane. Acts as a chaperone-like protein that protects the hydrophobic precursors from aggregation and guide them through the mitochondrial intermembrane space. The TIMM8-TIMM13 complex mediates the import of proteins such as TIMM23, SLC25A12/ARALAR1 and SLC25A13/ARALAR2, while the predominant TIMM9-TIMM10 70 kDa complex mediates the import of much more proteins. {ECO 0000269|PubMed 11489896, ECO 0000269|PubMed 15254020}. # GO_component GO:0005730 nucleolus; IDA:HPA. # GO_component GO:0005739 mitochondrion; IDA:HPA. # GO_component GO:0005743 mitochondrial inner membrane; IEA:UniProtKB-SubCell. # GO_component GO:0042719 mitochondrial intermembrane space protein transporter complex; TAS:BHF-UCL. # GO_function GO:0008270 zinc ion binding; TAS:ProtInc. # GO_function GO:0008565 protein transporter activity; IBA:GO_Central. # GO_process GO:0006626 protein targeting to mitochondrion; TAS:ProtInc. # GO_process GO:0007605 sensory perception of sound; TAS:ProtInc. # GO_process GO:0045039 protein import into mitochondrial inner membrane; IBA:GO_Central. # GO_process GO:0072321 chaperone-mediated protein transport; TAS:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005730 nucleolus # GOslim_component GO:0005739 mitochondrion # GOslim_function GO:0008565 protein transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006605 protein targeting # GOslim_process GO:0006810 transport # GOslim_process GO:0007005 mitochondrion organization # GOslim_process GO:0050877 neurological system process # GOslim_process GO:0055085 transmembrane transport # GOslim_process GO:0061024 membrane organization # Gene3D 1.10.287.810 -; 1. # Genevisible Q9Y5L4 HS # HGNC HGNC:11816 TIMM13 # IntAct Q9Y5L4 42 # InterPro IPR004217 Tim10/DDP_fam_Znf # MIM 607383 gene # Organism TIM13_HUMAN Homo sapiens (Human) # Pfam PF02953 zf-Tim10_DDP # Proteomes UP000005640 Chromosome 19 # Reactome R-HSA-1268020 Mitochondrial protein import # RecName TIM13_HUMAN Mitochondrial import inner membrane translocase subunit Tim13 # RefSeq NP_036590 NM_012458.3 # SIMILARITY Belongs to the small Tim family. {ECO 0000305}. # SUBCELLULAR LOCATION TIM13_HUMAN Mitochondrion inner membrane {ECO 0000269|PubMed 11489896}; Peripheral membrane protein {ECO 0000269|PubMed 11489896}; Intermembrane side {ECO 0000269|PubMed 11489896}. # SUBUNIT TIM13_HUMAN Heterohexamer; composed of 3 copies of TIMM8 (TIMM8A or TIMM8B) and 3 copies of TIMM13, named soluble 70 kDa complex. Associates with the TIM22 complex, whose core is composed of TIMM22. # SUPFAM SSF144122 SSF144122 # TISSUE SPECIFICITY TIM13_HUMAN Ubiquitous, with highest expression in heart, kidney, liver and skeletal muscle. # UCSC uc002lvx human # eggNOG ENOG41124YI LUCA # eggNOG KOG1733 Eukaryota BLAST swissprot:TIM13_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:TIM13_HUMAN BioCyc ZFISH:ENSG00000099800-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000099800-MONOMER COXPRESdb 26517 http://coxpresdb.jp/data/gene/26517.shtml CleanEx HS_TIMM13 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_TIMM13 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1006/geno.1999.5966 http://dx.doi.org/10.1006/geno.1999.5966 DOI 10.1016/S0014-5793(99)01665-8 http://dx.doi.org/10.1016/S0014-5793(99)01665-8 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/ac9004309 http://dx.doi.org/10.1021/ac9004309 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1074/jbc.M105313200 http://dx.doi.org/10.1074/jbc.M105313200 DOI 10.1093/hmg/ddh217 http://dx.doi.org/10.1093/hmg/ddh217 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AF144700 http://www.ebi.ac.uk/ena/data/view/AF144700 EMBL AF152351 http://www.ebi.ac.uk/ena/data/view/AF152351 EMBL AF152352 http://www.ebi.ac.uk/ena/data/view/AF152352 EMBL BC008607 http://www.ebi.ac.uk/ena/data/view/BC008607 Ensembl ENST00000215570 http://www.ensembl.org/id/ENST00000215570 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005730 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005730 GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0042719 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042719 GO_function GO:0008270 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008270 GO_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GO_process GO:0006626 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006626 GO_process GO:0007605 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007605 GO_process GO:0045039 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045039 GO_process GO:0072321 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0072321 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005730 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005730 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006605 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006605 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007005 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007005 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GOslim_process GO:0061024 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061024 Gene3D 1.10.287.810 http://www.cathdb.info/version/latest/superfamily/1.10.287.810 GeneCards TIMM13 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=TIMM13 GeneID 26517 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=26517 GeneTree ENSGT00390000014000 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000014000 HGNC HGNC:11816 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11816 HOGENOM HOG000115759 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000115759&db=HOGENOM6 HOVERGEN HBG079645 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG079645&db=HOVERGEN HPA HPA048985 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA048985 InParanoid Q9Y5L4 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9Y5L4 IntAct Q9Y5L4 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9Y5L4* InterPro IPR004217 http://www.ebi.ac.uk/interpro/entry/IPR004217 Jabion 26517 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=26517 KEGG_Gene hsa:26517 http://www.genome.jp/dbget-bin/www_bget?hsa:26517 MIM 607383 http://www.ncbi.nlm.nih.gov/omim/607383 MINT MINT-3087260 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-3087260 OMA CFKKCIN http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=CFKKCIN OrthoDB EOG091G138S http://cegg.unige.ch/orthodb/results?searchtext=EOG091G138S PSORT swissprot:TIM13_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:TIM13_HUMAN PSORT-B swissprot:TIM13_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:TIM13_HUMAN PSORT2 swissprot:TIM13_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:TIM13_HUMAN Pfam PF02953 http://pfam.xfam.org/family/PF02953 PharmGKB PA36522 http://www.pharmgkb.org/do/serve?objId=PA36522&objCls=Gene Phobius swissprot:TIM13_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:TIM13_HUMAN PhylomeDB Q9Y5L4 http://phylomedb.org/?seqid=Q9Y5L4 ProteinModelPortal Q9Y5L4 http://www.proteinmodelportal.org/query/uniprot/Q9Y5L4 PubMed 10552927 http://www.ncbi.nlm.nih.gov/pubmed/10552927 PubMed 10611480 http://www.ncbi.nlm.nih.gov/pubmed/10611480 PubMed 11489896 http://www.ncbi.nlm.nih.gov/pubmed/11489896 PubMed 15254020 http://www.ncbi.nlm.nih.gov/pubmed/15254020 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 19413330 http://www.ncbi.nlm.nih.gov/pubmed/19413330 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 Reactome R-HSA-1268020 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1268020 RefSeq NP_036590 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_036590 SMR Q9Y5L4 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9Y5L4 STRING 9606.ENSP00000215570 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000215570&targetmode=cogs SUPFAM SSF144122 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF144122 UCSC uc002lvx http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002lvx&org=rat UniGene Hs.75056 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.75056 UniProtKB TIM13_HUMAN http://www.uniprot.org/uniprot/TIM13_HUMAN UniProtKB-AC Q9Y5L4 http://www.uniprot.org/uniprot/Q9Y5L4 charge swissprot:TIM13_HUMAN http://rest.g-language.org/emboss/charge/swissprot:TIM13_HUMAN eggNOG ENOG41124YI http://eggnogapi.embl.de/nog_data/html/tree/ENOG41124YI eggNOG KOG1733 http://eggnogapi.embl.de/nog_data/html/tree/KOG1733 epestfind swissprot:TIM13_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:TIM13_HUMAN garnier swissprot:TIM13_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:TIM13_HUMAN helixturnhelix swissprot:TIM13_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:TIM13_HUMAN hmoment swissprot:TIM13_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:TIM13_HUMAN iep swissprot:TIM13_HUMAN http://rest.g-language.org/emboss/iep/swissprot:TIM13_HUMAN inforesidue swissprot:TIM13_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:TIM13_HUMAN neXtProt NX_Q9Y5L4 http://www.nextprot.org/db/entry/NX_Q9Y5L4 octanol swissprot:TIM13_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:TIM13_HUMAN pepcoil swissprot:TIM13_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:TIM13_HUMAN pepdigest swissprot:TIM13_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:TIM13_HUMAN pepinfo swissprot:TIM13_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:TIM13_HUMAN pepnet swissprot:TIM13_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:TIM13_HUMAN pepstats swissprot:TIM13_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:TIM13_HUMAN pepwheel swissprot:TIM13_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:TIM13_HUMAN pepwindow swissprot:TIM13_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:TIM13_HUMAN sigcleave swissprot:TIM13_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:TIM13_HUMAN ## Database ID URL or Descriptions # AltName NNTM_HUMAN Nicotinamide nucleotide transhydrogenase # AltName NNTM_HUMAN Pyridine nucleotide transhydrogenase # BRENDA 1.6.1 2681 # BioGrid 117076 53 # CATALYTIC ACTIVITY NNTM_HUMAN NADPH + NAD(+) = NADP(+) + NADH. # ChiTaRS NNT human # DISEASE NNTM_HUMAN Glucocorticoid deficiency 4 (GCCD4) [MIM 614736] A rare, potentially lethal, autosomal recessive disorder characterized by resistance to ACTH action on the adrenal cortex, adrenal insufficiency and an inability of the adrenal cortex to produce cortisol. It usually presents in the neonatal period or in early childhood with episodes of hypoglycemia and other symptoms related to cortisol deficiency, including failure to thrive, recurrent illnesses or infections, convulsions, and shock. In a small number of patients hypoglycemia can be sufficiently severe and persistent that it leads to serious long-term neurological damage or death. The diagnosis is readily confirmed with a low plasma cortisol measurement in the presence of an elevated ACTH level, and normal aldosterone and plasma renin measurements. {ECO 0000269|PubMed 22634753}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000264663 ENSP00000264663; ENSG00000112992 # Ensembl ENST00000344920 ENSP00000343873; ENSG00000112992 # ExpressionAtlas Q13423 baseline and differential # FUNCTION NNTM_HUMAN The transhydrogenation between NADH and NADP is coupled to respiration and ATP hydrolysis and functions as a proton pump across the membrane. May play a role in reactive oxygen species (ROS) detoxification in the adrenal gland. {ECO 0000269|PubMed 22634753}. # GO_component GO:0005739 mitochondrion; IDA:LIFEdb. # GO_component GO:0005743 mitochondrial inner membrane; TAS:UniProtKB. # GO_component GO:0005746 mitochondrial respiratory chain; TAS:UniProtKB. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0003957 NAD(P)+ transhydrogenase (B-specific) activity; TAS:UniProtKB. # GO_function GO:0008746 NAD(P)+ transhydrogenase activity; EXP:Reactome. # GO_function GO:0008750 NAD(P)+ transhydrogenase (AB-specific) activity; IBA:GO_Central. # GO_function GO:0050661 NADP binding; IDA:UniProtKB. # GO_function GO:0051287 NAD binding; TAS:UniProtKB. # GO_process GO:0006099 tricarboxylic acid cycle; TAS:UniProtKB. # GO_process GO:0006740 NADPH regeneration; IBA:GO_Central. # GO_process GO:0015992 proton transport; TAS:UniProtKB. # GO_process GO:0045454 cell redox homeostasis; IEA:InterPro. # GO_process GO:0055114 oxidation-reduction process; TAS:UniProtKB. # GO_process GO:0072593 reactive oxygen species metabolic process; IMP:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005739 mitochondrion # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0016491 oxidoreductase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0044281 small molecule metabolic process # GOslim_process GO:0051186 cofactor metabolic process # Gene3D 3.40.50.1220 -; 1. # Gene3D 3.40.50.720 -; 1. # Genevisible Q13423 HS # HGNC HGNC:7863 NNT # IntAct Q13423 19 # InterPro IPR007698 AlaDH/PNT_NAD(H)-bd # InterPro IPR007886 AlaDH/PNT_N # InterPro IPR008142 AlaDH/PNT_CS1 # InterPro IPR008143 Ala_DH/PNT_CS2 # InterPro IPR012136 NADH_DH_b # InterPro IPR016040 NAD(P)-bd_dom # InterPro IPR024605 NADP_transhyd_a_C # InterPro IPR026255 NADP_transhyd_a # InterPro IPR029035 DHS-like_NAD/FAD-binding_dom # InterPro IPR030168 NADP_transhyd_mt # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko01000 Enzymes # KEGG_Pathway ko00760 Nicotinate and nicotinamide metabolism # MIM 607878 gene # MIM 614736 phenotype # Organism NNTM_HUMAN Homo sapiens (Human) # Orphanet 361 Familial glucocorticoid deficiency # PANTHER PTHR10160:SF22 PTHR10160:SF22 # PDB 1DJL X-ray; 2.00 A; A/B=880-1086 # PDB 1PT9 X-ray; 2.42 A; A/B=880-1086 # PDB 1U31 X-ray; 2.20 A; A/B=880-1086 # PIR G02257 G02257 # PROSITE PS00836 ALADH_PNT_1 # PROSITE PS00837 ALADH_PNT_2 # Pfam PF01262 AlaDh_PNT_C # Pfam PF02233 PNTB # Pfam PF05222 AlaDh_PNT_N # Pfam PF12769 PNTB_4TM # Proteomes UP000005640 Chromosome 5 # Reactome R-HSA-71403 Citric acid cycle (TCA cycle) # RecName NNTM_HUMAN NAD(P) transhydrogenase, mitochondrial # RefSeq NP_036475 NM_012343.3 # RefSeq NP_892022 NM_182977.2 # RefSeq XP_005248331 XM_005248274.4 # RefSeq XP_011512303 XM_011514001.2 # RefSeq XP_016864782 XM_017009293.1 # SIMILARITY In the C-terminal section; belongs to the PNT beta subunit family. {ECO 0000305}. # SIMILARITY In the N-terminal section; belongs to the AlaDH/PNT family. {ECO 0000305}. # SMART SM01002 AlaDh_PNT_C # SMART SM01003 AlaDh_PNT_N # SUBCELLULAR LOCATION NNTM_HUMAN Mitochondrion inner membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}; Matrix side {ECO 0000305}. # SUBUNIT Homodimer. {ECO 0000250}. # SUPFAM SSF51735 SSF51735 # SUPFAM SSF52467 SSF52467 # TIGRFAMs TIGR00561 pntA # TISSUE SPECIFICITY Widely expressed with expression most readily detectable in adrenal, heart, kidney, thyroid and adipose tissues. {ECO:0000269|PubMed 22634753}. # UCSC uc003joe human # eggNOG COG1282 LUCA # eggNOG COG3288 LUCA # eggNOG ENOG410IEMU Eukaryota BLAST swissprot:NNTM_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:NNTM_HUMAN BioCyc MetaCyc:HS03639-MONOMER http://biocyc.org/getid?id=MetaCyc:HS03639-MONOMER BioCyc ZFISH:HS03639-MONOMER http://biocyc.org/getid?id=ZFISH:HS03639-MONOMER COXPRESdb 23530 http://coxpresdb.jp/data/gene/23530.shtml CleanEx HS_NNT http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_NNT DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1016/0005-2728(95)00159-X http://dx.doi.org/10.1016/0005-2728(95)00159-X DOI 10.1016/S0969-2126(00)00075-7 http://dx.doi.org/10.1016/S0969-2126(00)00075-7 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1038/ng.2299 http://dx.doi.org/10.1038/ng.2299 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1175371 http://dx.doi.org/10.1126/science.1175371 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EC_number EC:1.6.1.2 http://www.genome.jp/dbget-bin/www_bget?EC:1.6.1.2 EMBL AL831822 http://www.ebi.ac.uk/ena/data/view/AL831822 EMBL BC110543 http://www.ebi.ac.uk/ena/data/view/BC110543 EMBL U40490 http://www.ebi.ac.uk/ena/data/view/U40490 EMBL Z50101 http://www.ebi.ac.uk/ena/data/view/Z50101 ENZYME 1.6.1.2 http://enzyme.expasy.org/EC/1.6.1.2 Ensembl ENST00000264663 http://www.ensembl.org/id/ENST00000264663 Ensembl ENST00000344920 http://www.ensembl.org/id/ENST00000344920 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0005746 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005746 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0003957 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003957 GO_function GO:0008746 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008746 GO_function GO:0008750 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008750 GO_function GO:0050661 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050661 GO_function GO:0051287 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051287 GO_process GO:0006099 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006099 GO_process GO:0006740 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006740 GO_process GO:0015992 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015992 GO_process GO:0045454 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045454 GO_process GO:0055114 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055114 GO_process GO:0072593 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0072593 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0016491 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016491 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GOslim_process GO:0051186 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051186 Gene3D 3.40.50.1220 http://www.cathdb.info/version/latest/superfamily/3.40.50.1220 Gene3D 3.40.50.720 http://www.cathdb.info/version/latest/superfamily/3.40.50.720 GeneCards NNT http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=NNT GeneID 23530 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=23530 GeneTree ENSGT00390000004624 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000004624 H-InvDB HIX0032203 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0032203 HGNC HGNC:7863 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:7863 HOGENOM HOG000160623 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000160623&db=HOGENOM6 HOVERGEN HBG006511 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG006511&db=HOVERGEN HPA CAB004975 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB004975 HPA HPA004829 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA004829 InParanoid Q13423 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q13423 IntAct Q13423 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q13423* IntEnz 1.6.1.2 http://www.ebi.ac.uk/intenz/query?cmd=Search&q=1.6.1.2 InterPro IPR007698 http://www.ebi.ac.uk/interpro/entry/IPR007698 InterPro IPR007886 http://www.ebi.ac.uk/interpro/entry/IPR007886 InterPro IPR008142 http://www.ebi.ac.uk/interpro/entry/IPR008142 InterPro IPR008143 http://www.ebi.ac.uk/interpro/entry/IPR008143 InterPro IPR012136 http://www.ebi.ac.uk/interpro/entry/IPR012136 InterPro IPR016040 http://www.ebi.ac.uk/interpro/entry/IPR016040 InterPro IPR024605 http://www.ebi.ac.uk/interpro/entry/IPR024605 InterPro IPR026255 http://www.ebi.ac.uk/interpro/entry/IPR026255 InterPro IPR029035 http://www.ebi.ac.uk/interpro/entry/IPR029035 InterPro IPR030168 http://www.ebi.ac.uk/interpro/entry/IPR030168 Jabion 23530 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=23530 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Gene hsa:23530 http://www.genome.jp/dbget-bin/www_bget?hsa:23530 KEGG_Orthology KO:K00323 http://www.genome.jp/dbget-bin/www_bget?KO:K00323 KEGG_Pathway ko00760 http://www.genome.jp/kegg-bin/show_pathway?ko00760 KEGG_Reaction rn:R00112 http://www.genome.jp/dbget-bin/www_bget?rn:R00112 MIM 607878 http://www.ncbi.nlm.nih.gov/omim/607878 MIM 614736 http://www.ncbi.nlm.nih.gov/omim/614736 MINT MINT-3027647 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-3027647 OMA KPGIPYK http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=KPGIPYK Orphanet 361 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=361 OrthoDB EOG091G01NO http://cegg.unige.ch/orthodb/results?searchtext=EOG091G01NO PANTHER PTHR10160:SF22 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10160:SF22 PDB 1DJL http://www.ebi.ac.uk/pdbe-srv/view/entry/1DJL PDB 1PT9 http://www.ebi.ac.uk/pdbe-srv/view/entry/1PT9 PDB 1U31 http://www.ebi.ac.uk/pdbe-srv/view/entry/1U31 PDBsum 1DJL http://www.ebi.ac.uk/pdbsum/1DJL PDBsum 1PT9 http://www.ebi.ac.uk/pdbsum/1PT9 PDBsum 1U31 http://www.ebi.ac.uk/pdbsum/1U31 PROSITE PS00836 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00836 PROSITE PS00837 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00837 PSORT swissprot:NNTM_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:NNTM_HUMAN PSORT-B swissprot:NNTM_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:NNTM_HUMAN PSORT2 swissprot:NNTM_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:NNTM_HUMAN Pfam PF01262 http://pfam.xfam.org/family/PF01262 Pfam PF02233 http://pfam.xfam.org/family/PF02233 Pfam PF05222 http://pfam.xfam.org/family/PF05222 Pfam PF12769 http://pfam.xfam.org/family/PF12769 PharmGKB PA31667 http://www.pharmgkb.org/do/serve?objId=PA31667&objCls=Gene Phobius swissprot:NNTM_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:NNTM_HUMAN PhylomeDB Q13423 http://phylomedb.org/?seqid=Q13423 ProteinModelPortal Q13423 http://www.proteinmodelportal.org/query/uniprot/Q13423 PubMed 10673423 http://www.ncbi.nlm.nih.gov/pubmed/10673423 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 PubMed 19608861 http://www.ncbi.nlm.nih.gov/pubmed/19608861 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 22634753 http://www.ncbi.nlm.nih.gov/pubmed/22634753 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 8616157 http://www.ncbi.nlm.nih.gov/pubmed/8616157 PubMed 9524818 http://www.ncbi.nlm.nih.gov/pubmed/9524818 Reactome R-HSA-71403 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-71403 RefSeq NP_036475 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_036475 RefSeq NP_892022 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_892022 RefSeq XP_005248331 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005248331 RefSeq XP_011512303 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011512303 RefSeq XP_016864782 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016864782 SMART SM01002 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM01002 SMART SM01003 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM01003 SMR Q13423 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q13423 STRING 9606.ENSP00000264663 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000264663&targetmode=cogs SUPFAM SSF51735 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF51735 SUPFAM SSF52467 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52467 TIGRFAMs TIGR00561 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00561 UCSC uc003joe http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003joe&org=rat UniGene Hs.482043 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.482043 UniProtKB NNTM_HUMAN http://www.uniprot.org/uniprot/NNTM_HUMAN UniProtKB-AC Q13423 http://www.uniprot.org/uniprot/Q13423 charge swissprot:NNTM_HUMAN http://rest.g-language.org/emboss/charge/swissprot:NNTM_HUMAN eggNOG COG1282 http://eggnogapi.embl.de/nog_data/html/tree/COG1282 eggNOG COG3288 http://eggnogapi.embl.de/nog_data/html/tree/COG3288 eggNOG ENOG410IEMU http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IEMU epestfind swissprot:NNTM_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:NNTM_HUMAN garnier swissprot:NNTM_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:NNTM_HUMAN helixturnhelix swissprot:NNTM_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:NNTM_HUMAN hmoment swissprot:NNTM_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:NNTM_HUMAN iep swissprot:NNTM_HUMAN http://rest.g-language.org/emboss/iep/swissprot:NNTM_HUMAN inforesidue swissprot:NNTM_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:NNTM_HUMAN neXtProt NX_Q13423 http://www.nextprot.org/db/entry/NX_Q13423 octanol swissprot:NNTM_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:NNTM_HUMAN pepcoil swissprot:NNTM_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:NNTM_HUMAN pepdigest swissprot:NNTM_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:NNTM_HUMAN pepinfo swissprot:NNTM_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:NNTM_HUMAN pepnet swissprot:NNTM_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:NNTM_HUMAN pepstats swissprot:NNTM_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:NNTM_HUMAN pepwheel swissprot:NNTM_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:NNTM_HUMAN pepwindow swissprot:NNTM_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:NNTM_HUMAN sigcleave swissprot:NNTM_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:NNTM_HUMAN ## Database ID URL or Descriptions # AltName CCG6_HUMAN Neuronal voltage-gated calcium channel gamma-6 subunit # Ensembl ENST00000252729 ENSP00000252729; ENSG00000130433 # ExpressionAtlas Q9BXT2 baseline and differential # FUNCTION CCG6_HUMAN Thought to stabilize the calcium channel in an inactivated (closed) state. {ECO 0000250}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005891 voltage-gated calcium channel complex; NAS:UniProtKB. # GO_function GO:0005245 voltage-gated calcium channel activity; NAS:UniProtKB. # GO_process GO:0006816 calcium ion transport; NAS:UniProtKB. # GO_process GO:0061337 cardiac conduction; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # Genevisible Q9BXT2 HS # HGNC HGNC:13625 CACNG6 # InterPro IPR004031 PMP22/EMP/MP20/Claudin # InterPro IPR008368 VDCC_gsu # InterPro IPR008370 VDCC_g6su # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04010 MAPK signaling pathway # KEGG_Pathway ko04260 Cardiac muscle contraction # KEGG_Pathway ko05410 Hypertrophic cardiomyopathy (HCM) # KEGG_Pathway ko05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC) # KEGG_Pathway ko05414 Dilated cardiomyopathy # MIM 606898 gene # Organism CCG6_HUMAN Homo sapiens (Human) # PRINTS PR01792 VDCCGAMMA # PRINTS PR01794 VDCCGAMMA6 # Pfam PF13903 Claudin_2 # Proteomes UP000005640 Chromosome 19 # Reactome R-HSA-5576892 Phase 0 - rapid depolarisation # Reactome R-HSA-5576893 Phase 2 - plateau phase # Reactome R-HSA-5576894 Phase 1 - inactivation of fast Na+ channels # RecName CCG6_HUMAN Voltage-dependent calcium channel gamma-6 subunit # RefSeq NP_114103 NM_031897.2 # RefSeq NP_665813 NM_145814.1 # RefSeq NP_665814 NM_145815.1 # SIMILARITY Belongs to the PMP-22/EMP/MP20 family. CACNG subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION CCG6_HUMAN Membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. # SUBUNIT The L-type calcium channel is composed of five subunits alpha-1, alpha-2/delta, beta and gamma. # TCDB 8.A.16.1 the ca(+) channel auxiliary subunit Gama1-Gama8 (ccaGama) family # UCSC uc002qct human # eggNOG ENOG410IWHM Eukaryota # eggNOG ENOG4111I1Z LUCA BLAST swissprot:CCG6_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CCG6_HUMAN BioCyc ZFISH:ENSG00000130433-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000130433-MONOMER COXPRESdb 59285 http://coxpresdb.jp/data/gene/59285.shtml CleanEx HS_CACNG6 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CACNG6 DOI 10.1006/geno.2000.6440 http://dx.doi.org/10.1006/geno.2000.6440 DOI 10.1016/S0378-1119(01)00738-7 http://dx.doi.org/10.1016/S0378-1119(01)00738-7 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AF288386 http://www.ebi.ac.uk/ena/data/view/AF288386 EMBL AF361352 http://www.ebi.ac.uk/ena/data/view/AF361352 EMBL BC021552 http://www.ebi.ac.uk/ena/data/view/BC021552 Ensembl ENST00000252729 http://www.ensembl.org/id/ENST00000252729 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005891 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005891 GO_function GO:0005245 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005245 GO_process GO:0006816 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006816 GO_process GO:0061337 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061337 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GeneCards CACNG6 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CACNG6 GeneID 59285 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=59285 GeneTree ENSGT00390000007786 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000007786 HGNC HGNC:13625 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:13625 HOGENOM HOG000293219 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000293219&db=HOGENOM6 HOVERGEN HBG003868 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG003868&db=HOVERGEN InParanoid Q9BXT2 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9BXT2 InterPro IPR004031 http://www.ebi.ac.uk/interpro/entry/IPR004031 InterPro IPR008368 http://www.ebi.ac.uk/interpro/entry/IPR008368 InterPro IPR008370 http://www.ebi.ac.uk/interpro/entry/IPR008370 Jabion 59285 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=59285 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:59285 http://www.genome.jp/dbget-bin/www_bget?hsa:59285 KEGG_Orthology KO:K04871 http://www.genome.jp/dbget-bin/www_bget?KO:K04871 KEGG_Pathway ko04010 http://www.genome.jp/kegg-bin/show_pathway?ko04010 KEGG_Pathway ko04260 http://www.genome.jp/kegg-bin/show_pathway?ko04260 KEGG_Pathway ko05410 http://www.genome.jp/kegg-bin/show_pathway?ko05410 KEGG_Pathway ko05412 http://www.genome.jp/kegg-bin/show_pathway?ko05412 KEGG_Pathway ko05414 http://www.genome.jp/kegg-bin/show_pathway?ko05414 MIM 606898 http://www.ncbi.nlm.nih.gov/omim/606898 OMA GEANCTY http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=GEANCTY OrthoDB EOG091G0HUO http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0HUO PRINTS PR01792 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01792 PRINTS PR01794 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01794 PSORT swissprot:CCG6_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CCG6_HUMAN PSORT-B swissprot:CCG6_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CCG6_HUMAN PSORT2 swissprot:CCG6_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CCG6_HUMAN Pfam PF13903 http://pfam.xfam.org/family/PF13903 PharmGKB PA26020 http://www.pharmgkb.org/do/serve?objId=PA26020&objCls=Gene Phobius swissprot:CCG6_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CCG6_HUMAN PhylomeDB Q9BXT2 http://phylomedb.org/?seqid=Q9BXT2 ProteinModelPortal Q9BXT2 http://www.proteinmodelportal.org/query/uniprot/Q9BXT2 PubMed 11170751 http://www.ncbi.nlm.nih.gov/pubmed/11170751 PubMed 11738816 http://www.ncbi.nlm.nih.gov/pubmed/11738816 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 Reactome R-HSA-5576892 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576892 Reactome R-HSA-5576893 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576893 Reactome R-HSA-5576894 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576894 RefSeq NP_114103 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_114103 RefSeq NP_665813 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_665813 RefSeq NP_665814 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_665814 STRING 9606.ENSP00000252729 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000252729&targetmode=cogs TCDB 8.A.16.1 http://www.tcdb.org/search/result.php?tc=8.A.16.1 UCSC uc002qct http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002qct&org=rat UniGene Hs.631560 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.631560 UniProtKB CCG6_HUMAN http://www.uniprot.org/uniprot/CCG6_HUMAN UniProtKB-AC Q9BXT2 http://www.uniprot.org/uniprot/Q9BXT2 charge swissprot:CCG6_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CCG6_HUMAN eggNOG ENOG410IWHM http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IWHM eggNOG ENOG4111I1Z http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111I1Z epestfind swissprot:CCG6_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CCG6_HUMAN garnier swissprot:CCG6_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CCG6_HUMAN helixturnhelix swissprot:CCG6_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CCG6_HUMAN hmoment swissprot:CCG6_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CCG6_HUMAN iep swissprot:CCG6_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CCG6_HUMAN inforesidue swissprot:CCG6_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CCG6_HUMAN neXtProt NX_Q9BXT2 http://www.nextprot.org/db/entry/NX_Q9BXT2 octanol swissprot:CCG6_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CCG6_HUMAN pepcoil swissprot:CCG6_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CCG6_HUMAN pepdigest swissprot:CCG6_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CCG6_HUMAN pepinfo swissprot:CCG6_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CCG6_HUMAN pepnet swissprot:CCG6_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CCG6_HUMAN pepstats swissprot:CCG6_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CCG6_HUMAN pepwheel swissprot:CCG6_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CCG6_HUMAN pepwindow swissprot:CCG6_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CCG6_HUMAN sigcleave swissprot:CCG6_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CCG6_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS FUCT1_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96A29-1; Sequence=Displayed; Name=2; IsoId=Q96A29-2; Sequence=VSP_047116; # AltName FUCT1_HUMAN Solute carrier family 35 member C1 # CCDS CCDS44575 -. [Q96A29-2] # CCDS CCDS7914 -. [Q96A29-1] # DISEASE FUCT1_HUMAN Congenital disorder of glycosylation 2C (CDG2C) [MIM 266265] A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N- glycoproteins during embryonic development, differentiation, and maintenance of cell functions. The clinical features of CDG2C include mental retardation, short stature, facial stigmata, and recurrent bacterial peripheral infections with persistently elevated peripheral leukocytes. Biochemically, CDG2C is characterized by a lack of fucosylated glycoconjugates, including selectin ligands. {ECO 0000269|PubMed 11326279, ECO 0000269|PubMed 11326280}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000314134 ENSP00000313318; ENSG00000181830. [Q96A29-1] # Ensembl ENST00000442528 ENSP00000412408; ENSG00000181830. [Q96A29-2] # ExpressionAtlas Q96A29 baseline and differential # FUNCTION FUCT1_HUMAN Involved in GDP-fucose import from the cytoplasm into the Golgi lumen. # GO_component GO:0000139 Golgi membrane; TAS:Reactome. # GO_component GO:0005794 Golgi apparatus; IDA:HPA. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0005457 GDP-fucose transmembrane transporter activity; TAS:Reactome. # GO_process GO:0008643 carbohydrate transport; IEA:UniProtKB-KW. # GO_process GO:0030259 lipid glycosylation; IEA:Ensembl. # GO_process GO:0045746 negative regulation of Notch signaling pathway; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005794 Golgi apparatus # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006629 lipid metabolic process # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # Genevisible Q96A29 HS # HGNC HGNC:20197 SLC35C1 # InterPro IPR004853 Sugar_P_trans_dom # KEGG_Brite ko02001 Solute carrier family # KEGG_Disease H00099 [Primary immunodeficiency] LAD with Rac2 deficiency # KEGG_Disease H00119 [Inherited metabolic disease] Congenital disorders of glycosylation (CDG) type II # MIM 266265 phenotype # MIM 605881 gene # Organism FUCT1_HUMAN Homo sapiens (Human) # Orphanet 99843 Leukocyte adhesion deficiency type II # Pfam PF03151 TPT # Proteomes UP000005640 Chromosome 11 # Reactome R-HSA-6787639 GDP-fucose biosynthesis # Reactome R-HSA-727802 Transport of nucleotide sugars # RecName FUCT1_HUMAN GDP-fucose transporter 1 # RefSeq NP_001138737 NM_001145265.1. [Q96A29-2] # RefSeq NP_001138738 NM_001145266.1. [Q96A29-2] # RefSeq NP_060859 NM_018389.4. [Q96A29-1] # SEQUENCE CAUTION Sequence=BAA92126.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the TPT transporter family. SLC35C subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION FUCT1_HUMAN Golgi apparatus membrane; Multi-pass membrane protein. # TCDB 2.A.7.16 the drug/metabolite transporter (dmt) superfamily # UCSC uc001nbo human. [Q96A29-1] # WEB RESOURCE FUCT1_HUMAN Name=SLC35C1base; Note=SLC35C1 mutation db; URL="http //structure.bmc.lu.se/idbase/SLC35C1base/"; # eggNOG ENOG410XST0 LUCA # eggNOG KOG1442 Eukaryota BLAST swissprot:FUCT1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:FUCT1_HUMAN BioCyc ZFISH:ENSG00000181830-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000181830-MONOMER COXPRESdb 55343 http://coxpresdb.jp/data/gene/55343.shtml CleanEx HS_SLC35C1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC35C1 DOI 10.1038/88289 http://dx.doi.org/10.1038/88289 DOI 10.1038/88299 http://dx.doi.org/10.1038/88299 DOI 10.1038/nature04632 http://dx.doi.org/10.1038/nature04632 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AC044839 http://www.ebi.ac.uk/ena/data/view/AC044839 EMBL AF323970 http://www.ebi.ac.uk/ena/data/view/AF323970 EMBL AF326199 http://www.ebi.ac.uk/ena/data/view/AF326199 EMBL AK002182 http://www.ebi.ac.uk/ena/data/view/AK002182 EMBL AK027394 http://www.ebi.ac.uk/ena/data/view/AK027394 EMBL AK315473 http://www.ebi.ac.uk/ena/data/view/AK315473 EMBL BC001427 http://www.ebi.ac.uk/ena/data/view/BC001427 EMBL CH471064 http://www.ebi.ac.uk/ena/data/view/CH471064 Ensembl ENST00000314134 http://www.ensembl.org/id/ENST00000314134 Ensembl ENST00000442528 http://www.ensembl.org/id/ENST00000442528 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000139 GO_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005457 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005457 GO_process GO:0008643 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008643 GO_process GO:0030259 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030259 GO_process GO:0045746 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045746 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006629 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006629 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GeneCards SLC35C1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC35C1 GeneID 55343 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=55343 GeneTree ENSGT00390000013315 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000013315 HGNC HGNC:20197 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:20197 HOGENOM HOG000021132 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000021132&db=HOGENOM6 HOVERGEN HBG051670 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG051670&db=HOVERGEN HPA HPA064001 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA064001 InParanoid Q96A29 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q96A29 InterPro IPR004853 http://www.ebi.ac.uk/interpro/entry/IPR004853 Jabion 55343 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=55343 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Disease H00099 http://www.genome.jp/dbget-bin/www_bget?H00099 KEGG_Disease H00119 http://www.genome.jp/dbget-bin/www_bget?H00119 KEGG_Gene hsa:55343 http://www.genome.jp/dbget-bin/www_bget?hsa:55343 KEGG_Orthology KO:K15279 http://www.genome.jp/dbget-bin/www_bget?KO:K15279 MIM 266265 http://www.ncbi.nlm.nih.gov/omim/266265 MIM 605881 http://www.ncbi.nlm.nih.gov/omim/605881 OMA VVSLYWV http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=VVSLYWV Orphanet 99843 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=99843 OrthoDB EOG091G0CH6 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0CH6 PSORT swissprot:FUCT1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:FUCT1_HUMAN PSORT-B swissprot:FUCT1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:FUCT1_HUMAN PSORT2 swissprot:FUCT1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:FUCT1_HUMAN Pfam PF03151 http://pfam.xfam.org/family/PF03151 PharmGKB PA134930330 http://www.pharmgkb.org/do/serve?objId=PA134930330&objCls=Gene Phobius swissprot:FUCT1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:FUCT1_HUMAN PhylomeDB Q96A29 http://phylomedb.org/?seqid=Q96A29 ProteinModelPortal Q96A29 http://www.proteinmodelportal.org/query/uniprot/Q96A29 PubMed 11326279 http://www.ncbi.nlm.nih.gov/pubmed/11326279 PubMed 11326280 http://www.ncbi.nlm.nih.gov/pubmed/11326280 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16554811 http://www.ncbi.nlm.nih.gov/pubmed/16554811 Reactome R-HSA-6787639 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6787639 Reactome R-HSA-727802 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-727802 RefSeq NP_001138737 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001138737 RefSeq NP_001138738 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001138738 RefSeq NP_060859 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_060859 STRING 9606.ENSP00000313318 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000313318&targetmode=cogs TCDB 2.A.7.16 http://www.tcdb.org/search/result.php?tc=2.A.7.16 UCSC uc001nbo http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001nbo&org=rat UniGene Hs.12211 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.12211 UniProtKB FUCT1_HUMAN http://www.uniprot.org/uniprot/FUCT1_HUMAN UniProtKB-AC Q96A29 http://www.uniprot.org/uniprot/Q96A29 charge swissprot:FUCT1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:FUCT1_HUMAN eggNOG ENOG410XST0 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XST0 eggNOG KOG1442 http://eggnogapi.embl.de/nog_data/html/tree/KOG1442 epestfind swissprot:FUCT1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:FUCT1_HUMAN garnier swissprot:FUCT1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:FUCT1_HUMAN helixturnhelix swissprot:FUCT1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:FUCT1_HUMAN hmoment swissprot:FUCT1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:FUCT1_HUMAN iep swissprot:FUCT1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:FUCT1_HUMAN inforesidue swissprot:FUCT1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:FUCT1_HUMAN neXtProt NX_Q96A29 http://www.nextprot.org/db/entry/NX_Q96A29 octanol swissprot:FUCT1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:FUCT1_HUMAN pepcoil swissprot:FUCT1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:FUCT1_HUMAN pepdigest swissprot:FUCT1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:FUCT1_HUMAN pepinfo swissprot:FUCT1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:FUCT1_HUMAN pepnet swissprot:FUCT1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:FUCT1_HUMAN pepstats swissprot:FUCT1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:FUCT1_HUMAN pepwheel swissprot:FUCT1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:FUCT1_HUMAN pepwindow swissprot:FUCT1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:FUCT1_HUMAN sigcleave swissprot:FUCT1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:FUCT1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS MRP5_HUMAN Event=Alternative splicing; Named isoforms=5; Name=1; IsoId=O15440-1; Sequence=Displayed; Name=2; Synonyms=SV1; IsoId=O15440-2; Sequence=VSP_043397, VSP_043402; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=3; Synonyms=SV2; IsoId=O15440-3; Sequence=VSP_043398, VSP_043401, VSP_043402; Note=Predominant isoform in retinal pigment epithelium, bladder, and stomach.; Name=4; Synonyms=SV3; IsoId=O15440-4; Sequence=VSP_043399, VSP_043400, VSP_043402; Name=5; IsoId=O15440-5; Sequence=VSP_055354; # AltName MRP5_HUMAN ATP-binding cassette sub-family C member 5 # AltName MRP5_HUMAN Multi-specific organic anion transporter C # AltName MRP5_HUMAN SMRP # AltName MRP5_HUMAN pABC11 # BioGrid 115368 12 # CCDS CCDS33898 -. [O15440-4] # CCDS CCDS43176 -. [O15440-1] # ChiTaRS ABCC5 human # DrugBank DB00143 Glutathione # DrugBank DB00203 Sildenafil # DrugBank DB00495 Zidovudine # DrugBank DB00515 Cisplatin # DrugBank DB00544 Fluorouracil # DrugBank DB00718 Adefovir Dipivoxil # DrugBank DB00770 Alprostadil # DrugBank DB00917 Dinoprostone # DrugBank DB00975 Dipyridamole # DrugBank DB01032 Probenecid # DrugBank DB01033 Mercaptopurine # DrugBank DB01045 Rifampicin # DrugBank DB01076 Atorvastatin # DrugBank DB01138 Sulfinpyrazone # Ensembl ENST00000265586 ENSP00000265586; ENSG00000114770. [O15440-5] # Ensembl ENST00000334444 ENSP00000333926; ENSG00000114770. [O15440-1] # Ensembl ENST00000382494 ENSP00000371934; ENSG00000114770. [O15440-4] # Ensembl ENST00000392579 ENSP00000376358; ENSG00000114770. [O15440-2] # Ensembl ENST00000443376 ENSP00000416840; ENSG00000114770. [O15440-3] # ExpressionAtlas O15440 baseline and differential # FUNCTION MRP5_HUMAN Acts as a multispecific organic anion pump which can transport nucleotide analogs. {ECO 0000269|PubMed 10840050}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0016020 membrane; IDA:MGI. # GO_function GO:0005524 ATP binding; TAS:ProtInc. # GO_function GO:0008514 organic anion transmembrane transporter activity; TAS:Reactome. # GO_function GO:0043225 ATPase-coupled anion transmembrane transporter activity; TAS:Reactome. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0030213 hyaluronan biosynthetic process; TAS:Reactome. # GO_process GO:0055085 transmembrane transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 3.40.50.300 -; 2. # Genevisible O15440 HS # HGNC HGNC:56 ABCC5 # IntAct O15440 8 # InterPro IPR003439 ABC_transporter-like # InterPro IPR003593 AAA+_ATPase # InterPro IPR011527 ABC1_TM_dom # InterPro IPR017871 ABC_transporter_CS # InterPro IPR027417 P-loop_NTPase # InterPro IPR030238 ABCC5 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02000 Transporters # KEGG_Pathway ko02010 ABC transporters # MIM 605251 gene # Organism MRP5_HUMAN Homo sapiens (Human) # PANTHER PTHR24223:SF196 PTHR24223:SF196; 2 # PIR JC5667 JC5667 # PROSITE PS00211 ABC_TRANSPORTER_1; 2 # PROSITE PS50893 ABC_TRANSPORTER_2; 2 # PROSITE PS50929 ABC_TM1F; 2 # Pfam PF00005 ABC_tran; 2 # Pfam PF00664 ABC_membrane; 2 # Proteomes UP000005640 Chromosome 3 # Reactome R-HSA-2142850 Hyaluronan biosynthesis and export # Reactome R-HSA-382556 ABC-family proteins mediated transport # RecName MRP5_HUMAN Multidrug resistance-associated protein 5 # RefSeq NP_001018881 NM_001023587.2. [O15440-4] # RefSeq NP_001306961 NM_001320032.1 # RefSeq NP_005679 NM_005688.3. [O15440-1] # RefSeq XP_005247115 XM_005247058.4. [O15440-1] # RefSeq XP_005247116 XM_005247059.4. [O15440-1] # RefSeq XP_011510616 XM_011512314.1. [O15440-1] # RefSeq XP_016860982 XM_017005493.1. [O15440-4] # RefSeq XP_016860983 XM_017005494.1. [O15440-4] # SIMILARITY Belongs to the ABC transporter superfamily. ABCC family. Conjugate transporter (TC 3.A.1.208) subfamily. {ECO 0000305}. # SIMILARITY Contains 2 ABC transmembrane type-1 domains. {ECO:0000255|PROSITE-ProRule PRU00441}. # SIMILARITY Contains 2 ABC transporter domains. {ECO:0000255|PROSITE-ProRule PRU00434}. # SMART SM00382 AAA; 2 # SUBCELLULAR LOCATION MRP5_HUMAN Membrane; Multi-pass membrane protein. # SUPFAM SSF52540 SSF52540; 2 # SUPFAM SSF90123 SSF90123; 2 # TCDB 3.A.1.208.15 the atp-binding cassette (abc) superfamily # TISSUE SPECIFICITY All isoforms are equally expressed in retina. {ECO:0000269|PubMed 17521428}. # UCSC uc003fmg human. [O15440-1] # WEB RESOURCE MRP5_HUMAN Name=ABCMdb; Note=Database for mutations in ABC proteins; URL="http //abcmutations.hegelab.org/proteinDetails?uniprot_id=O15440"; # eggNOG COG1132 LUCA # eggNOG KOG0054 Eukaryota BLAST swissprot:MRP5_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:MRP5_HUMAN BioCyc ZFISH:ENSG00000114770-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000114770-MONOMER COXPRESdb 10057 http://coxpresdb.jp/data/gene/10057.shtml CleanEx HS_ABCC5 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ABCC5 DOI 10.1006/bbrc.1997.7346 http://dx.doi.org/10.1006/bbrc.1997.7346 DOI 10.1016/S0378-1119(99)00529-6 http://dx.doi.org/10.1016/S0378-1119(99)00529-6 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature04728 http://dx.doi.org/10.1038/nature04728 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1073/pnas.120159197 http://dx.doi.org/10.1073/pnas.120159197 DOI 10.1074/jbc.274.33.23541 http://dx.doi.org/10.1074/jbc.274.33.23541 DOI 10.1093/jnci/90.22.1735 http://dx.doi.org/10.1093/jnci/90.22.1735 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 DOI 10.1186/1471-2199-8-42 http://dx.doi.org/10.1186/1471-2199-8-42 DrugBank DB00143 http://www.drugbank.ca/drugs/DB00143 DrugBank DB00203 http://www.drugbank.ca/drugs/DB00203 DrugBank DB00495 http://www.drugbank.ca/drugs/DB00495 DrugBank DB00515 http://www.drugbank.ca/drugs/DB00515 DrugBank DB00544 http://www.drugbank.ca/drugs/DB00544 DrugBank DB00718 http://www.drugbank.ca/drugs/DB00718 DrugBank DB00770 http://www.drugbank.ca/drugs/DB00770 DrugBank DB00917 http://www.drugbank.ca/drugs/DB00917 DrugBank DB00975 http://www.drugbank.ca/drugs/DB00975 DrugBank DB01032 http://www.drugbank.ca/drugs/DB01032 DrugBank DB01033 http://www.drugbank.ca/drugs/DB01033 DrugBank DB01045 http://www.drugbank.ca/drugs/DB01045 DrugBank DB01076 http://www.drugbank.ca/drugs/DB01076 DrugBank DB01138 http://www.drugbank.ca/drugs/DB01138 EMBL AB005659 http://www.ebi.ac.uk/ena/data/view/AB005659 EMBL AB019002 http://www.ebi.ac.uk/ena/data/view/AB019002 EMBL AC068644 http://www.ebi.ac.uk/ena/data/view/AC068644 EMBL AF104942 http://www.ebi.ac.uk/ena/data/view/AF104942 EMBL AF146074 http://www.ebi.ac.uk/ena/data/view/AF146074 EMBL AY196484 http://www.ebi.ac.uk/ena/data/view/AY196484 EMBL AY754874 http://www.ebi.ac.uk/ena/data/view/AY754874 EMBL AY754875 http://www.ebi.ac.uk/ena/data/view/AY754875 EMBL AY754876 http://www.ebi.ac.uk/ena/data/view/AY754876 EMBL BC050744 http://www.ebi.ac.uk/ena/data/view/BC050744 EMBL BC140771 http://www.ebi.ac.uk/ena/data/view/BC140771 EMBL BC142719 http://www.ebi.ac.uk/ena/data/view/BC142719 EMBL CH471052 http://www.ebi.ac.uk/ena/data/view/CH471052 EMBL CH471052 http://www.ebi.ac.uk/ena/data/view/CH471052 EMBL U83661 http://www.ebi.ac.uk/ena/data/view/U83661 Ensembl ENST00000265586 http://www.ensembl.org/id/ENST00000265586 Ensembl ENST00000334444 http://www.ensembl.org/id/ENST00000334444 Ensembl ENST00000382494 http://www.ensembl.org/id/ENST00000382494 Ensembl ENST00000392579 http://www.ensembl.org/id/ENST00000392579 Ensembl ENST00000443376 http://www.ensembl.org/id/ENST00000443376 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0008514 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008514 GO_function GO:0043225 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043225 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0030213 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030213 GO_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 3.40.50.300 http://www.cathdb.info/version/latest/superfamily/3.40.50.300 GeneCards ABCC5 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ABCC5 GeneID 10057 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=10057 GeneTree ENSGT00860000133722 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00860000133722 HGNC HGNC:56 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:56 HOGENOM HOG000116132 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000116132&db=HOGENOM6 HOVERGEN HBG108314 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG108314&db=HOVERGEN HPA HPA044067 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA044067 HPA HPA052295 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA052295 InParanoid O15440 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O15440 IntAct O15440 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O15440* InterPro IPR003439 http://www.ebi.ac.uk/interpro/entry/IPR003439 InterPro IPR003593 http://www.ebi.ac.uk/interpro/entry/IPR003593 InterPro IPR011527 http://www.ebi.ac.uk/interpro/entry/IPR011527 InterPro IPR017871 http://www.ebi.ac.uk/interpro/entry/IPR017871 InterPro IPR027417 http://www.ebi.ac.uk/interpro/entry/IPR027417 InterPro IPR030238 http://www.ebi.ac.uk/interpro/entry/IPR030238 Jabion 10057 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=10057 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Gene hsa:10057 http://www.genome.jp/dbget-bin/www_bget?hsa:10057 KEGG_Orthology KO:K05668 http://www.genome.jp/dbget-bin/www_bget?KO:K05668 KEGG_Pathway ko02010 http://www.genome.jp/kegg-bin/show_pathway?ko02010 MIM 605251 http://www.ncbi.nlm.nih.gov/omim/605251 OMA KHIHLGS http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=KHIHLGS OrthoDB EOG091G01TC http://cegg.unige.ch/orthodb/results?searchtext=EOG091G01TC PANTHER PTHR24223:SF196 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24223:SF196 PROSITE PS00211 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00211 PROSITE PS50893 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50893 PROSITE PS50929 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50929 PSORT swissprot:MRP5_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:MRP5_HUMAN PSORT-B swissprot:MRP5_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:MRP5_HUMAN PSORT2 swissprot:MRP5_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:MRP5_HUMAN Pfam PF00005 http://pfam.xfam.org/family/PF00005 Pfam PF00664 http://pfam.xfam.org/family/PF00664 PharmGKB PA395 http://www.pharmgkb.org/do/serve?objId=PA395&objCls=Gene Phobius swissprot:MRP5_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:MRP5_HUMAN PhylomeDB O15440 http://phylomedb.org/?seqid=O15440 ProteinModelPortal O15440 http://www.proteinmodelportal.org/query/uniprot/O15440 PubMed 10438534 http://www.ncbi.nlm.nih.gov/pubmed/10438534 PubMed 10721709 http://www.ncbi.nlm.nih.gov/pubmed/10721709 PubMed 10840050 http://www.ncbi.nlm.nih.gov/pubmed/10840050 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16641997 http://www.ncbi.nlm.nih.gov/pubmed/16641997 PubMed 17521428 http://www.ncbi.nlm.nih.gov/pubmed/17521428 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 9270026 http://www.ncbi.nlm.nih.gov/pubmed/9270026 PubMed 9325169 http://www.ncbi.nlm.nih.gov/pubmed/9325169 PubMed 9827529 http://www.ncbi.nlm.nih.gov/pubmed/9827529 Reactome R-HSA-2142850 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2142850 Reactome R-HSA-382556 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-382556 RefSeq NP_001018881 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001018881 RefSeq NP_001306961 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001306961 RefSeq NP_005679 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_005679 RefSeq XP_005247115 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005247115 RefSeq XP_005247116 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005247116 RefSeq XP_011510616 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011510616 RefSeq XP_016860982 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016860982 RefSeq XP_016860983 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016860983 SMART SM00382 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00382 SMR O15440 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=O15440 STRING 9606.ENSP00000333926 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000333926&targetmode=cogs SUPFAM SSF52540 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52540 SUPFAM SSF90123 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF90123 TCDB 3.A.1.208.15 http://www.tcdb.org/search/result.php?tc=3.A.1.208.15 UCSC uc003fmg http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003fmg&org=rat UniGene Hs.368563 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.368563 UniGene Hs.732645 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.732645 UniGene Hs.743953 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.743953 UniProtKB MRP5_HUMAN http://www.uniprot.org/uniprot/MRP5_HUMAN UniProtKB-AC O15440 http://www.uniprot.org/uniprot/O15440 charge swissprot:MRP5_HUMAN http://rest.g-language.org/emboss/charge/swissprot:MRP5_HUMAN eggNOG COG1132 http://eggnogapi.embl.de/nog_data/html/tree/COG1132 eggNOG KOG0054 http://eggnogapi.embl.de/nog_data/html/tree/KOG0054 epestfind swissprot:MRP5_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:MRP5_HUMAN garnier swissprot:MRP5_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:MRP5_HUMAN helixturnhelix swissprot:MRP5_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:MRP5_HUMAN hmoment swissprot:MRP5_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:MRP5_HUMAN iep swissprot:MRP5_HUMAN http://rest.g-language.org/emboss/iep/swissprot:MRP5_HUMAN inforesidue swissprot:MRP5_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:MRP5_HUMAN neXtProt NX_O15440 http://www.nextprot.org/db/entry/NX_O15440 octanol swissprot:MRP5_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:MRP5_HUMAN pepcoil swissprot:MRP5_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:MRP5_HUMAN pepdigest swissprot:MRP5_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:MRP5_HUMAN pepinfo swissprot:MRP5_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:MRP5_HUMAN pepnet swissprot:MRP5_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:MRP5_HUMAN pepstats swissprot:MRP5_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:MRP5_HUMAN pepwheel swissprot:MRP5_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:MRP5_HUMAN pepwindow swissprot:MRP5_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:MRP5_HUMAN sigcleave swissprot:MRP5_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:MRP5_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS GRIK5_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q16478-1; Sequence=Displayed; Name=2; IsoId=Q16478-2; Sequence=VSP_035585; Note=No experimental confirmation available.; # AltName GRIK5_HUMAN Excitatory amino acid receptor 2 # AltName GRIK5_HUMAN Glutamate receptor KA-2 # BioGrid 109158 6 # CCDS CCDS12595 -. [Q16478-1] # CCDS CCDS77305 -. [Q16478-2] # Ensembl ENST00000262895 ENSP00000262895; ENSG00000105737. [Q16478-1] # Ensembl ENST00000301218 ENSP00000301218; ENSG00000105737. [Q16478-2] # Ensembl ENST00000593562 ENSP00000470251; ENSG00000105737. [Q16478-1] # ExpressionAtlas Q16478 baseline and differential # FUNCTION GRIK5_HUMAN Receptor for glutamate. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. The postsynaptic actions of Glu are mediated by a variety of receptors that are named according to their selective agonists. This receptor binds kainate > quisqualate > domoate > L- glutamate >> AMPA >> NMDA = 1S,3R-ACPD. # GO_component GO:0005783 endoplasmic reticulum; IEA:Ensembl. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0014069 postsynaptic density; IEA:Ensembl. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0030425 dendrite; IEA:Ensembl. # GO_component GO:0032983 kainate selective glutamate receptor complex; IEA:Ensembl. # GO_component GO:0042734 presynaptic membrane; IEA:Ensembl. # GO_component GO:0043195 terminal bouton; IEA:Ensembl. # GO_component GO:0043204 perikaryon; IEA:Ensembl. # GO_component GO:0045211 postsynaptic membrane; IEA:UniProtKB-SubCell. # GO_function GO:0005234 extracellular-glutamate-gated ion channel activity; IEA:InterPro. # GO_function GO:0015276 ligand-gated ion channel activity; TAS:Reactome. # GO_function GO:0015277 kainate selective glutamate receptor activity; IDA:UniProtKB. # GO_process GO:0006621 protein retention in ER lumen; IEA:Ensembl. # GO_process GO:0031630 regulation of synaptic vesicle fusion to presynaptic membrane; IEA:Ensembl. # GO_process GO:0035249 synaptic transmission, glutamatergic; IEA:Ensembl. # GO_process GO:0043113 receptor clustering; IEA:Ensembl. # GO_process GO:0043525 positive regulation of neuron apoptotic process; IEA:Ensembl. # GO_process GO:0051649 establishment of localization in cell; IEA:Ensembl. # GO_process GO:0060079 excitatory postsynaptic potential; IEA:Ensembl. # GO_process GO:0071333 cellular response to glucose stimulus; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0061024 membrane organization # Genevisible Q16478 HS # HGNC HGNC:4583 GRIK5 # IntAct Q16478 4 # InterPro IPR001320 Iontro_rcpt # InterPro IPR001508 Iono_rcpt_met # InterPro IPR001828 ANF_lig-bd_rcpt # InterPro IPR019594 Glu/Gly-bd # InterPro IPR028082 Peripla_BP_I # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04080 Neuroactive ligand-receptor interaction # KEGG_Pathway ko04724 Glutamatergic synapse # MIM 600283 gene # Organism GRIK5_HUMAN Homo sapiens (Human) # PIR I57936 I57936 # PRINTS PR00177 NMDARECEPTOR # Pfam PF00060 Lig_chan # Pfam PF01094 ANF_receptor # Pfam PF10613 Lig_chan-Glu_bd # Proteomes UP000005640 Chromosome 19 # Reactome R-HSA-451308 Activation of Ca-permeable Kainate Receptor # RecName GRIK5_HUMAN Glutamate receptor ionotropic, kainate 5 # RefSeq NP_001287959 NM_001301030.1. [Q16478-2] # RefSeq NP_002079 NM_002088.4. [Q16478-1] # RefSeq XP_005258878 XM_005258821.3. [Q16478-1] # RefSeq XP_011525165 XM_011526863.2. [Q16478-2] # SIMILARITY Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. GRIK5 subfamily. {ECO 0000305}. # SMART SM00079 PBPe # SMART SM00918 Lig_chan-Glu_bd # SUBCELLULAR LOCATION GRIK5_HUMAN Cell membrane; Multi-pass membrane protein. Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. # SUBUNIT Tetramer of two or more different subunits. Associates with GRIK1 (both edited and unedited versions), GRIK2, or GRIK3 to form functional channels. Homomeric associations do not produce any channel activity (By similarity). {ECO 0000250}. # SUPFAM SSF53822 SSF53822 # UCSC uc002osj human. [Q16478-1] # eggNOG ENOG410ISR4 Eukaryota # eggNOG ENOG410XRUE LUCA BLAST swissprot:GRIK5_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:GRIK5_HUMAN BioCyc ZFISH:ENSG00000105737-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000105737-MONOMER COXPRESdb 2901 http://coxpresdb.jp/data/gene/2901.shtml CleanEx HS_GRIK2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_GRIK2 CleanEx HS_GRIK5 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_GRIK5 EMBL AJ249209 http://www.ebi.ac.uk/ena/data/view/AJ249209 EMBL CH471126 http://www.ebi.ac.uk/ena/data/view/CH471126 EMBL S40369 http://www.ebi.ac.uk/ena/data/view/S40369 Ensembl ENST00000262895 http://www.ensembl.org/id/ENST00000262895 Ensembl ENST00000301218 http://www.ensembl.org/id/ENST00000301218 Ensembl ENST00000593562 http://www.ensembl.org/id/ENST00000593562 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0014069 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014069 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0030425 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030425 GO_component GO:0032983 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032983 GO_component GO:0042734 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042734 GO_component GO:0043195 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043195 GO_component GO:0043204 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043204 GO_component GO:0045211 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045211 GO_function GO:0005234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005234 GO_function GO:0015276 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015276 GO_function GO:0015277 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015277 GO_process GO:0006621 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006621 GO_process GO:0031630 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031630 GO_process GO:0035249 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035249 GO_process GO:0043113 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043113 GO_process GO:0043525 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043525 GO_process GO:0051649 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051649 GO_process GO:0060079 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060079 GO_process GO:0071333 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071333 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0061024 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061024 GeneCards GRIK5 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=GRIK5 GeneID 2901 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=2901 GeneTree ENSGT00760000118920 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118920 H-InvDB HIX0022359 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0022359 H-InvDB HIX0027521 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0027521 HGNC HGNC:4583 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:4583 HOGENOM HOG000234371 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000234371&db=HOGENOM6 HOVERGEN HBG051839 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG051839&db=HOVERGEN InParanoid Q16478 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q16478 IntAct Q16478 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q16478* InterPro IPR001320 http://www.ebi.ac.uk/interpro/entry/IPR001320 InterPro IPR001508 http://www.ebi.ac.uk/interpro/entry/IPR001508 InterPro IPR001828 http://www.ebi.ac.uk/interpro/entry/IPR001828 InterPro IPR019594 http://www.ebi.ac.uk/interpro/entry/IPR019594 InterPro IPR028082 http://www.ebi.ac.uk/interpro/entry/IPR028082 Jabion 2901 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=2901 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:2901 http://www.genome.jp/dbget-bin/www_bget?hsa:2901 KEGG_Orthology KO:K05205 http://www.genome.jp/dbget-bin/www_bget?KO:K05205 KEGG_Pathway ko04080 http://www.genome.jp/kegg-bin/show_pathway?ko04080 KEGG_Pathway ko04724 http://www.genome.jp/kegg-bin/show_pathway?ko04724 MIM 600283 http://www.ncbi.nlm.nih.gov/omim/600283 MINT MINT-1427286 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1427286 OMA CTSSNIW http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=CTSSNIW OrthoDB EOG091G02LN http://cegg.unige.ch/orthodb/results?searchtext=EOG091G02LN PRINTS PR00177 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00177 PSORT swissprot:GRIK5_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:GRIK5_HUMAN PSORT-B swissprot:GRIK5_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:GRIK5_HUMAN PSORT2 swissprot:GRIK5_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:GRIK5_HUMAN Pfam PF00060 http://pfam.xfam.org/family/PF00060 Pfam PF01094 http://pfam.xfam.org/family/PF01094 Pfam PF10613 http://pfam.xfam.org/family/PF10613 PharmGKB PA28977 http://www.pharmgkb.org/do/serve?objId=PA28977&objCls=Gene Phobius swissprot:GRIK5_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:GRIK5_HUMAN PhylomeDB Q16478 http://phylomedb.org/?seqid=Q16478 ProteinModelPortal Q16478 http://www.proteinmodelportal.org/query/uniprot/Q16478 PubMed 1321949 http://www.ncbi.nlm.nih.gov/pubmed/1321949 Reactome R-HSA-451308 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-451308 RefSeq NP_001287959 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001287959 RefSeq NP_002079 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_002079 RefSeq XP_005258878 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005258878 RefSeq XP_011525165 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011525165 SMART SM00079 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00079 SMART SM00918 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00918 SMR Q16478 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q16478 STRING 9606.ENSP00000262895 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000262895&targetmode=cogs SUPFAM SSF53822 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF53822 UCSC uc002osj http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002osj&org=rat UniGene Hs.367799 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.367799 UniProtKB GRIK5_HUMAN http://www.uniprot.org/uniprot/GRIK5_HUMAN UniProtKB-AC Q16478 http://www.uniprot.org/uniprot/Q16478 charge swissprot:GRIK5_HUMAN http://rest.g-language.org/emboss/charge/swissprot:GRIK5_HUMAN eggNOG ENOG410ISR4 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410ISR4 eggNOG ENOG410XRUE http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XRUE epestfind swissprot:GRIK5_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:GRIK5_HUMAN garnier swissprot:GRIK5_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:GRIK5_HUMAN helixturnhelix swissprot:GRIK5_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:GRIK5_HUMAN hmoment swissprot:GRIK5_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:GRIK5_HUMAN iep swissprot:GRIK5_HUMAN http://rest.g-language.org/emboss/iep/swissprot:GRIK5_HUMAN inforesidue swissprot:GRIK5_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:GRIK5_HUMAN neXtProt NX_Q16478 http://www.nextprot.org/db/entry/NX_Q16478 octanol swissprot:GRIK5_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:GRIK5_HUMAN pepcoil swissprot:GRIK5_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:GRIK5_HUMAN pepdigest swissprot:GRIK5_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:GRIK5_HUMAN pepinfo swissprot:GRIK5_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:GRIK5_HUMAN pepnet swissprot:GRIK5_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:GRIK5_HUMAN pepstats swissprot:GRIK5_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:GRIK5_HUMAN pepwheel swissprot:GRIK5_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:GRIK5_HUMAN pepwindow swissprot:GRIK5_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:GRIK5_HUMAN sigcleave swissprot:GRIK5_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:GRIK5_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS GBRR1_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=P24046-1; Sequence=Displayed; Name=2; IsoId=P24046-2; Sequence=VSP_036363; Note=No experimental confirmation available.; Name=3; IsoId=P24046-3; Sequence=VSP_046665; Note=No experimental confirmation available.; # AltName GBRR1_HUMAN GABA(A) receptor subunit rho-1 # AltName GBRR1_HUMAN GABA(C) receptor # BioGrid 108843 12 # CCDS CCDS5019 -. [P24046-1] # CCDS CCDS59028 -. [P24046-3] # CCDS CCDS59029 -. [P24046-2] # DrugBank DB00231 Temazepam # DrugBank DB00546 Adinazolam # DrugBank DB00683 Midazolam # DrugBank DB00690 Flurazepam # DrugBank DB00801 Halazepam # DrugBank DB00829 Diazepam # DrugBank DB00842 Oxazepam # DrugBank DB00897 Triazolam # DrugBank DB01215 Estazolam # DrugBank DB01558 Bromazepam # DrugBank DB01559 Clotiazepam # DrugBank DB01567 Fludiazepam # DrugBank DB01588 Prazepam # DrugBank DB01589 Quazepam # DrugBank DB01594 Cinolazepam # DrugBank DB01595 Nitrazepam # Ensembl ENST00000369451 ENSP00000358463; ENSG00000146276. [P24046-3] # Ensembl ENST00000435811 ENSP00000394687; ENSG00000146276. [P24046-2] # Ensembl ENST00000454853 ENSP00000412673; ENSG00000146276. [P24046-1] # Ensembl ENST00000611484 ENSP00000478846; ENSG00000146276. [P24046-3] # Ensembl ENST00000621627 ENSP00000481986; ENSG00000146276. [P24046-3] # ExpressionAtlas P24046 baseline and differential # FUNCTION GBRR1_HUMAN GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel. Rho-1 GABA receptor could play a role in retinal neurotransmission. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0034707 chloride channel complex; IEA:UniProtKB-KW. # GO_component GO:0045211 postsynaptic membrane; IEA:UniProtKB-SubCell. # GO_component GO:1902711 GABA-A receptor complex; IBA:GO_Central. # GO_function GO:0004890 GABA-A receptor activity; TAS:ProtInc. # GO_function GO:0005230 extracellular ligand-gated ion channel activity; IEA:InterPro. # GO_function GO:0005254 chloride channel activity; IEA:UniProtKB-KW. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0007214 gamma-aminobutyric acid signaling pathway; TAS:ProtInc. # GO_process GO:0007268 chemical synaptic transmission; TAS:ProtInc. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0055085 transmembrane transport # Gene3D 2.70.170.10 -; 1. # Genevisible P24046 HS # HGNC HGNC:4090 GABRR1 # InterPro IPR006028 GABAA/Glycine_rcpt # InterPro IPR006029 Neurotrans-gated_channel_TM # InterPro IPR006201 Neur_channel # InterPro IPR006202 Neur_chan_lig-bd # InterPro IPR008057 GABAAa_rho_rcpt # InterPro IPR008058 GABAAa_rho1_rcpt # InterPro IPR018000 Neurotransmitter_ion_chnl_CS # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04080 Neuroactive ligand-receptor interaction # KEGG_Pathway ko04723 Retrograde endocannabinoid signaling # KEGG_Pathway ko04727 GABAergic synapse # KEGG_Pathway ko05032 Morphine addiction # KEGG_Pathway ko05033 Nicotine addiction # MIM 137161 gene # Organism GBRR1_HUMAN Homo sapiens (Human) # PANTHER PTHR18945 PTHR18945 # PIR A38627 A38627 # PRINTS PR00252 NRIONCHANNEL # PRINTS PR00253 GABAARECEPTR # PRINTS PR01670 GABAARRHO # PRINTS PR01671 GABAARRHO1 # PROSITE PS00236 NEUROTR_ION_CHANNEL # Pfam PF02931 Neur_chan_LBD # Pfam PF02932 Neur_chan_memb # Proteomes UP000005640 Chromosome 6 # Reactome R-HSA-975298 Ligand-gated ion channel transport # Reactome R-HSA-977442 GABA A (rho) receptor activation # RecName GBRR1_HUMAN Gamma-aminobutyric acid receptor subunit rho-1 # RefSeq NP_001243632 NM_001256703.1. [P24046-2] # RefSeq NP_001243633 NM_001256704.1. [P24046-3] # RefSeq NP_001254511 NM_001267582.1. [P24046-3] # RefSeq NP_002033 NM_002042.4. [P24046-1] # RefSeq XP_016866178 XM_017010689.1. [P24046-3] # SEQUENCE CAUTION Sequence=AAA52509.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAI30345.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRR1 sub-subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION GBRR1_HUMAN Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. # SUBUNIT Generally pentameric. There are five types of GABA(A) receptor chains: alpha, beta, gamma, delta, and rho. Interacts with SQSTM1 (By similarity). {ECO 0000250}. # SUPFAM SSF63712 SSF63712 # SUPFAM SSF90112 SSF90112 # TCDB 1.A.9.5 the neurotransmitter receptor, cys loop, ligand-gated ion channel (lic) family # TIGRFAMs TIGR00860 LIC # TISSUE SPECIFICITY GBRR1_HUMAN Highly expressed in the retina and in a lesser extent in brain, lung and thymus. # UCSC uc003pna human. [P24046-1] # eggNOG ENOG410XPWH LUCA # eggNOG KOG3643 Eukaryota BLAST swissprot:GBRR1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:GBRR1_HUMAN COXPRESdb 2569 http://coxpresdb.jp/data/gene/2569.shtml CleanEx HS_GABRR1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_GABRR1 DOI 10.1038/nature02055 http://dx.doi.org/10.1038/nature02055 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.88.7.2673 http://dx.doi.org/10.1073/pnas.88.7.2673 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DrugBank DB00231 http://www.drugbank.ca/drugs/DB00231 DrugBank DB00546 http://www.drugbank.ca/drugs/DB00546 DrugBank DB00683 http://www.drugbank.ca/drugs/DB00683 DrugBank DB00690 http://www.drugbank.ca/drugs/DB00690 DrugBank DB00801 http://www.drugbank.ca/drugs/DB00801 DrugBank DB00829 http://www.drugbank.ca/drugs/DB00829 DrugBank DB00842 http://www.drugbank.ca/drugs/DB00842 DrugBank DB00897 http://www.drugbank.ca/drugs/DB00897 DrugBank DB01215 http://www.drugbank.ca/drugs/DB01215 DrugBank DB01558 http://www.drugbank.ca/drugs/DB01558 DrugBank DB01559 http://www.drugbank.ca/drugs/DB01559 DrugBank DB01567 http://www.drugbank.ca/drugs/DB01567 DrugBank DB01588 http://www.drugbank.ca/drugs/DB01588 DrugBank DB01589 http://www.drugbank.ca/drugs/DB01589 DrugBank DB01594 http://www.drugbank.ca/drugs/DB01594 DrugBank DB01595 http://www.drugbank.ca/drugs/DB01595 EMBL AK296124 http://www.ebi.ac.uk/ena/data/view/AK296124 EMBL AK298948 http://www.ebi.ac.uk/ena/data/view/AK298948 EMBL AL353135 http://www.ebi.ac.uk/ena/data/view/AL353135 EMBL AL353135 http://www.ebi.ac.uk/ena/data/view/AL353135 EMBL AL353659 http://www.ebi.ac.uk/ena/data/view/AL353659 EMBL AL353659 http://www.ebi.ac.uk/ena/data/view/AL353659 EMBL BC130344 http://www.ebi.ac.uk/ena/data/view/BC130344 EMBL M62400 http://www.ebi.ac.uk/ena/data/view/M62400 Ensembl ENST00000369451 http://www.ensembl.org/id/ENST00000369451 Ensembl ENST00000435811 http://www.ensembl.org/id/ENST00000435811 Ensembl ENST00000454853 http://www.ensembl.org/id/ENST00000454853 Ensembl ENST00000611484 http://www.ensembl.org/id/ENST00000611484 Ensembl ENST00000621627 http://www.ensembl.org/id/ENST00000621627 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0034707 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034707 GO_component GO:0045211 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045211 GO_component GO:1902711 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902711 GO_function GO:0004890 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004890 GO_function GO:0005230 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005230 GO_function GO:0005254 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005254 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0007214 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007214 GO_process GO:0007268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007268 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 2.70.170.10 http://www.cathdb.info/version/latest/superfamily/2.70.170.10 GeneCards GABRR1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=GABRR1 GeneID 2569 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=2569 GeneTree ENSGT00760000118821 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118821 HGNC HGNC:4090 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:4090 HOGENOM HOG000231335 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231335&db=HOGENOM6 HOVERGEN HBG051707 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG051707&db=HOVERGEN InParanoid P24046 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P24046 IntAct P24046 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P24046* InterPro IPR006028 http://www.ebi.ac.uk/interpro/entry/IPR006028 InterPro IPR006029 http://www.ebi.ac.uk/interpro/entry/IPR006029 InterPro IPR006201 http://www.ebi.ac.uk/interpro/entry/IPR006201 InterPro IPR006202 http://www.ebi.ac.uk/interpro/entry/IPR006202 InterPro IPR008057 http://www.ebi.ac.uk/interpro/entry/IPR008057 InterPro IPR008058 http://www.ebi.ac.uk/interpro/entry/IPR008058 InterPro IPR018000 http://www.ebi.ac.uk/interpro/entry/IPR018000 Jabion 2569 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=2569 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:2569 http://www.genome.jp/dbget-bin/www_bget?hsa:2569 KEGG_Orthology KO:K05190 http://www.genome.jp/dbget-bin/www_bget?KO:K05190 KEGG_Pathway ko04080 http://www.genome.jp/kegg-bin/show_pathway?ko04080 KEGG_Pathway ko04723 http://www.genome.jp/kegg-bin/show_pathway?ko04723 KEGG_Pathway ko04727 http://www.genome.jp/kegg-bin/show_pathway?ko04727 KEGG_Pathway ko05032 http://www.genome.jp/kegg-bin/show_pathway?ko05032 KEGG_Pathway ko05033 http://www.genome.jp/kegg-bin/show_pathway?ko05033 MIM 137161 http://www.ncbi.nlm.nih.gov/omim/137161 OMA RMMVQLA http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=RMMVQLA OrthoDB EOG091G0805 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0805 PANTHER PTHR18945 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR18945 PRINTS PR00252 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00252 PRINTS PR00253 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00253 PRINTS PR01670 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01670 PRINTS PR01671 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01671 PROSITE PS00236 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00236 PSORT swissprot:GBRR1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:GBRR1_HUMAN PSORT-B swissprot:GBRR1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:GBRR1_HUMAN PSORT2 swissprot:GBRR1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:GBRR1_HUMAN Pfam PF02931 http://pfam.xfam.org/family/PF02931 Pfam PF02932 http://pfam.xfam.org/family/PF02932 PharmGKB PA28505 http://www.pharmgkb.org/do/serve?objId=PA28505&objCls=Gene Phobius swissprot:GBRR1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:GBRR1_HUMAN PhylomeDB P24046 http://phylomedb.org/?seqid=P24046 ProteinModelPortal P24046 http://www.proteinmodelportal.org/query/uniprot/P24046 PubMed 14574404 http://www.ncbi.nlm.nih.gov/pubmed/14574404 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 1849271 http://www.ncbi.nlm.nih.gov/pubmed/1849271 Reactome R-HSA-975298 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-975298 Reactome R-HSA-977442 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-977442 RefSeq NP_001243632 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001243632 RefSeq NP_001243633 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001243633 RefSeq NP_001254511 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001254511 RefSeq NP_002033 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_002033 RefSeq XP_016866178 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016866178 SMR P24046 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P24046 STRING 9606.ENSP00000412673 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000412673&targetmode=cogs SUPFAM SSF63712 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF63712 SUPFAM SSF90112 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF90112 TCDB 1.A.9.5 http://www.tcdb.org/search/result.php?tc=1.A.9.5 TIGRFAMs TIGR00860 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00860 UCSC uc003pna http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003pna&org=rat UniGene Hs.99927 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.99927 UniProtKB GBRR1_HUMAN http://www.uniprot.org/uniprot/GBRR1_HUMAN UniProtKB-AC P24046 http://www.uniprot.org/uniprot/P24046 charge swissprot:GBRR1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:GBRR1_HUMAN eggNOG ENOG410XPWH http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XPWH eggNOG KOG3643 http://eggnogapi.embl.de/nog_data/html/tree/KOG3643 epestfind swissprot:GBRR1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:GBRR1_HUMAN garnier swissprot:GBRR1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:GBRR1_HUMAN helixturnhelix swissprot:GBRR1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:GBRR1_HUMAN hmoment swissprot:GBRR1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:GBRR1_HUMAN iep swissprot:GBRR1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:GBRR1_HUMAN inforesidue swissprot:GBRR1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:GBRR1_HUMAN neXtProt NX_P24046 http://www.nextprot.org/db/entry/NX_P24046 octanol swissprot:GBRR1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:GBRR1_HUMAN pepcoil swissprot:GBRR1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:GBRR1_HUMAN pepdigest swissprot:GBRR1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:GBRR1_HUMAN pepinfo swissprot:GBRR1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:GBRR1_HUMAN pepnet swissprot:GBRR1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:GBRR1_HUMAN pepstats swissprot:GBRR1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:GBRR1_HUMAN pepwheel swissprot:GBRR1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:GBRR1_HUMAN pepwindow swissprot:GBRR1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:GBRR1_HUMAN sigcleave swissprot:GBRR1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:GBRR1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS CTL3_HUMAN Event=Alternative splicing; Named isoforms=6; Name=1; IsoId=Q8N4M1-1; Sequence=Displayed; Name=2; IsoId=Q8N4M1-2; Sequence=VSP_036151; Name=3; IsoId=Q8N4M1-3; Sequence=VSP_036152; Name=4; IsoId=Q8N4M1-4; Sequence=VSP_036152, VSP_044713; Note=No experimental confirmation available.; Name=5; IsoId=Q8N4M1-5; Sequence=VSP_036151, VSP_044713, VSP_045974; Note=No experimental confirmation available.; Name=6; IsoId=Q8N4M1-6; Sequence=VSP_044713, VSP_045974; Note=No experimental confirmation available.; # AltName CTL3_HUMAN Solute carrier family 44 member 3 # CCDS CCDS44176 -. [Q8N4M1-1] # CCDS CCDS58011 -. [Q8N4M1-6] # CCDS CCDS58012 -. [Q8N4M1-4] # CCDS CCDS58013 -. [Q8N4M1-3] # CCDS CCDS751 -. [Q8N4M1-2] # ChiTaRS SLC44A3 human # DrugBank DB00122 Choline # Ensembl ENST00000271227 ENSP00000271227; ENSG00000143036. [Q8N4M1-1] # Ensembl ENST00000446120 ENSP00000389143; ENSG00000143036. [Q8N4M1-3] # Ensembl ENST00000467909 ENSP00000432789; ENSG00000143036. [Q8N4M1-2] # Ensembl ENST00000527077 ENSP00000433641; ENSG00000143036. [Q8N4M1-4] # Ensembl ENST00000529450 ENSP00000431836; ENSG00000143036. [Q8N4M1-6] # ExpressionAtlas Q8N4M1 baseline and differential # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0015220 choline transmembrane transporter activity; TAS:Reactome. # GO_process GO:0006656 phosphatidylcholine biosynthetic process; TAS:Reactome. # GO_process GO:0055085 transmembrane transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006629 lipid metabolic process # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0055085 transmembrane transport # Genevisible Q8N4M1 HS # HGNC HGNC:28689 SLC44A3 # INTERACTION CTL3_HUMAN Q13643 FHL3; NbExp=3; IntAct=EBI-10265585, EBI-741101; # IntAct Q8N4M1 2 # InterPro IPR007603 Choline_transptr-like # KEGG_Brite ko02001 Solute carrier family # Organism CTL3_HUMAN Homo sapiens (Human) # PANTHER PTHR12385 PTHR12385 # Pfam PF04515 Choline_transpo # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-1483191 Synthesis of PC # Reactome R-HSA-425366 Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds # RecName CTL3_HUMAN Choline transporter-like protein 3 # RefSeq NP_001107578 NM_001114106.2. [Q8N4M1-1] # RefSeq NP_001245269 NM_001258340.1 # RefSeq NP_001245270 NM_001258341.1. [Q8N4M1-6] # RefSeq NP_001245271 NM_001258342.1. [Q8N4M1-3] # RefSeq NP_001245272 NM_001258343.1. [Q8N4M1-4] # RefSeq NP_001288008 NM_001301079.1 # RefSeq NP_689582 NM_152369.4. [Q8N4M1-2] # RefSeq XP_005270498 XM_005270441.2. [Q8N4M1-2] # SEQUENCE CAUTION Sequence=AAH33858.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAQ89022.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the CTL (choline transporter-like) family. {ECO 0000305}. # SUBCELLULAR LOCATION CTL3_HUMAN Membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. # TCDB 2.A.92.1 the choline transporter-like (ctl) family # UCSC uc001dqv human. [Q8N4M1-1] # eggNOG ENOG410XS0P LUCA # eggNOG KOG1362 Eukaryota BLAST swissprot:CTL3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CTL3_HUMAN BioCyc ZFISH:ENSG00000143036-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000143036-MONOMER COXPRESdb 126969 http://coxpresdb.jp/data/gene/126969.shtml CleanEx HS_SLC44A3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC44A3 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1038/nature09639 http://dx.doi.org/10.1038/nature09639 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.030339697 http://dx.doi.org/10.1073/pnas.030339697 DOI 10.1101/gr.1293003 http://dx.doi.org/10.1101/gr.1293003 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DrugBank DB00122 http://www.drugbank.ca/drugs/DB00122 EMBL AC093429 http://www.ebi.ac.uk/ena/data/view/AC093429 EMBL AK301288 http://www.ebi.ac.uk/ena/data/view/AK301288 EMBL AK303906 http://www.ebi.ac.uk/ena/data/view/AK303906 EMBL AK316123 http://www.ebi.ac.uk/ena/data/view/AK316123 EMBL AL359554 http://www.ebi.ac.uk/ena/data/view/AL359554 EMBL AY358659 http://www.ebi.ac.uk/ena/data/view/AY358659 EMBL BC033858 http://www.ebi.ac.uk/ena/data/view/BC033858 EMBL BC053877 http://www.ebi.ac.uk/ena/data/view/BC053877 Ensembl ENST00000271227 http://www.ensembl.org/id/ENST00000271227 Ensembl ENST00000446120 http://www.ensembl.org/id/ENST00000446120 Ensembl ENST00000467909 http://www.ensembl.org/id/ENST00000467909 Ensembl ENST00000527077 http://www.ensembl.org/id/ENST00000527077 Ensembl ENST00000529450 http://www.ensembl.org/id/ENST00000529450 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0015220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015220 GO_process GO:0006656 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006656 GO_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006629 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006629 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC44A3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC44A3 GeneID 126969 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=126969 GeneTree ENSGT00550000074521 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074521 H-InvDB HIX0023639 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0023639 HGNC HGNC:28689 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:28689 HOGENOM HOG000231655 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231655&db=HOGENOM6 HOVERGEN HBG080361 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG080361&db=HOVERGEN HPA HPA047433 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA047433 InParanoid Q8N4M1 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8N4M1 IntAct Q8N4M1 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q8N4M1* InterPro IPR007603 http://www.ebi.ac.uk/interpro/entry/IPR007603 Jabion 126969 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=126969 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:126969 http://www.genome.jp/dbget-bin/www_bget?hsa:126969 KEGG_Orthology KO:K15282 http://www.genome.jp/dbget-bin/www_bget?KO:K15282 OMA KCTDTAW http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=KCTDTAW OrthoDB EOG091G0CMQ http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0CMQ PANTHER PTHR12385 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12385 PSORT swissprot:CTL3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CTL3_HUMAN PSORT-B swissprot:CTL3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CTL3_HUMAN PSORT2 swissprot:CTL3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CTL3_HUMAN Pfam PF04515 http://pfam.xfam.org/family/PF04515 PharmGKB PA142670900 http://www.pharmgkb.org/do/serve?objId=PA142670900&objCls=Gene Phobius swissprot:CTL3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CTL3_HUMAN PhylomeDB Q8N4M1 http://phylomedb.org/?seqid=Q8N4M1 ProteinModelPortal Q8N4M1 http://www.proteinmodelportal.org/query/uniprot/Q8N4M1 PubMed 10677542 http://www.ncbi.nlm.nih.gov/pubmed/10677542 PubMed 12975309 http://www.ncbi.nlm.nih.gov/pubmed/12975309 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 21248752 http://www.ncbi.nlm.nih.gov/pubmed/21248752 Reactome R-HSA-1483191 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1483191 Reactome R-HSA-425366 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-425366 RefSeq NP_001107578 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001107578 RefSeq NP_001245269 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001245269 RefSeq NP_001245270 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001245270 RefSeq NP_001245271 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001245271 RefSeq NP_001245272 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001245272 RefSeq NP_001288008 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001288008 RefSeq NP_689582 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_689582 RefSeq XP_005270498 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005270498 STRING 9606.ENSP00000271227 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000271227&targetmode=cogs TCDB 2.A.92.1 http://www.tcdb.org/search/result.php?tc=2.A.92.1 UCSC uc001dqv http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001dqv&org=rat UniGene Hs.483423 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.483423 UniProtKB CTL3_HUMAN http://www.uniprot.org/uniprot/CTL3_HUMAN UniProtKB-AC Q8N4M1 http://www.uniprot.org/uniprot/Q8N4M1 charge swissprot:CTL3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CTL3_HUMAN eggNOG ENOG410XS0P http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XS0P eggNOG KOG1362 http://eggnogapi.embl.de/nog_data/html/tree/KOG1362 epestfind swissprot:CTL3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CTL3_HUMAN garnier swissprot:CTL3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CTL3_HUMAN helixturnhelix swissprot:CTL3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CTL3_HUMAN hmoment swissprot:CTL3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CTL3_HUMAN iep swissprot:CTL3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CTL3_HUMAN inforesidue swissprot:CTL3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CTL3_HUMAN neXtProt NX_Q8N4M1 http://www.nextprot.org/db/entry/NX_Q8N4M1 octanol swissprot:CTL3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CTL3_HUMAN pepcoil swissprot:CTL3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CTL3_HUMAN pepdigest swissprot:CTL3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CTL3_HUMAN pepinfo swissprot:CTL3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CTL3_HUMAN pepnet swissprot:CTL3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CTL3_HUMAN pepstats swissprot:CTL3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CTL3_HUMAN pepwheel swissprot:CTL3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CTL3_HUMAN pepwindow swissprot:CTL3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CTL3_HUMAN sigcleave swissprot:CTL3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CTL3_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS AT2B1_HUMAN Event=Alternative splicing; Named isoforms=6; Name=D; Synonyms=CIV, hPMCA1d; IsoId=P20020-1; Sequence=Displayed; Name=A; Synonyms=CII, hPMCA1a; IsoId=P20020-2; Sequence=VSP_000375; Name=B; Synonyms=CI, hPMCA1b; IsoId=P20020-3; Sequence=VSP_000373; Name=C; Synonyms=CIII, hPMCA1c; IsoId=P20020-4; Sequence=VSP_000374; Name=E; Synonyms=CV; IsoId=P20020-5; Sequence=VSP_000376; Name=K; IsoId=P20020-6; Sequence=VSP_000372, VSP_000373; # AltName AT2B1_HUMAN Plasma membrane calcium ATPase isoform 1 # AltName AT2B1_HUMAN Plasma membrane calcium pump isoform 1 # BRENDA 3.6.3 2681 # BioGrid 106980 36 # CATALYTIC ACTIVITY AT2B1_HUMAN ATP + H(2)O + Ca(2+)(Side 1) = ADP + phosphate + Ca(2+)(Side 2). # CCDS CCDS41817 -. [P20020-2] # CCDS CCDS9035 -. [P20020-3] # ChiTaRS ATP2B1 human # DOMAIN AT2B1_HUMAN The calmodulin-binding subdomain B is different in the different splice variants and shows pH dependent calmodulin binding properties in isoforms A, C, D and E. # Ensembl ENST00000261173 ENSP00000261173; ENSG00000070961. [P20020-3] # Ensembl ENST00000359142 ENSP00000352054; ENSG00000070961. [P20020-2] # Ensembl ENST00000428670 ENSP00000392043; ENSG00000070961. [P20020-3] # ExpressionAtlas P20020 baseline and differential # FUNCTION AT2B1_HUMAN This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium out of the cell. # GO_component GO:0005634 nucleus; IDA:HPA. # GO_component GO:0005886 plasma membrane; IDA:HPA. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0009898 cytoplasmic side of plasma membrane; IEA:Ensembl. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0016323 basolateral plasma membrane; IEA:Ensembl. # GO_component GO:0016324 apical plasma membrane; IEA:Ensembl. # GO_component GO:0032591 dendritic spine membrane; IEA:Ensembl. # GO_component GO:0032809 neuronal cell body membrane; IEA:Ensembl. # GO_component GO:0043231 intracellular membrane-bounded organelle; IBA:GO_Central. # GO_component GO:0045121 membrane raft; IEA:Ensembl. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0005388 calcium-transporting ATPase activity; TAS:Reactome. # GO_function GO:0005524 ATP binding; IEA:UniProtKB-KW. # GO_function GO:0030165 PDZ domain binding; IBA:GO_Central. # GO_function GO:0046872 metal ion binding; IEA:UniProtKB-KW. # GO_process GO:0003407 neural retina development; IEA:Ensembl. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0006874 cellular calcium ion homeostasis; IBA:GO_Central. # GO_process GO:0007420 brain development; IEA:Ensembl. # GO_process GO:0007568 aging; IEA:Ensembl. # GO_process GO:0009409 response to cold; IEA:Ensembl. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0071305 cellular response to vitamin D; IEA:Ensembl. # GO_process GO:0071386 cellular response to corticosterone stimulus; IEA:Ensembl. # GO_process GO:1901660 calcium ion export; IEA:Ensembl. # GO_process GO:1903779 regulation of cardiac conduction; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007568 aging # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.20.1110.10 -; 1. # Gene3D 2.70.150.10 -; 2. # Gene3D 3.40.1110.10 -; 1. # Genevisible P20020 HS # HGNC HGNC:814 ATP2B1 # IntAct P20020 24 # InterPro IPR001757 P_typ_ATPase # InterPro IPR004014 ATPase_P-typ_cation-transptr_N # InterPro IPR006068 ATPase_P-typ_cation-transptr_C # InterPro IPR006408 P-type_ATPase_IIB # InterPro IPR008250 ATPase_P-typ_transduc_dom_A # InterPro IPR018303 ATPase_P-typ_P_site # InterPro IPR022141 ATP_Ca_trans_C # InterPro IPR023214 HAD-like_dom # InterPro IPR023298 ATPase_P-typ_TM_dom # InterPro IPR023299 ATPase_P-typ_cyto_domN # InterPro IPR030319 ATP2B1/4 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko01000 Enzymes # KEGG_Pathway ko04020 Calcium signaling pathway # KEGG_Pathway ko04970 Salivary secretion # KEGG_Pathway ko04972 Pancreatic secretion # MIM 108731 gene # Organism AT2B1_HUMAN Homo sapiens (Human) # PANTHER PTHR24093:SF276 PTHR24093:SF276; 3 # PIR A30802 A30802 # PIR E49570 E49570 # PIR I55491 I55491 # PIR I70165 I70165 # PROSITE PS00154 ATPASE_E1_E2 # Pfam PF00122 E1-E2_ATPase; 2 # Pfam PF00689 Cation_ATPase_C # Pfam PF00690 Cation_ATPase_N # Pfam PF12424 ATP_Ca_trans_C; 2 # Proteomes UP000005640 Chromosome 12 # Reactome R-HSA-418359 Reduction of cytosolic Ca++ levels # Reactome R-HSA-5578775 Ion homeostasis # Reactome R-HSA-936837 Ion transport by P-type ATPases # RecName AT2B1_HUMAN Plasma membrane calcium-transporting ATPase 1 # RefSeq NP_001001323 NM_001001323.1. [P20020-2] # RefSeq NP_001673 NM_001682.2. [P20020-3] # RefSeq XP_011536709 XM_011538407.2. [P20020-4] # RefSeq XP_016874847 XM_017019358.1. [P20020-6] # SIMILARITY Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIB subfamily. {ECO 0000305}. # SMART SM00831 Cation_ATPase_N # SUBCELLULAR LOCATION AT2B1_HUMAN Cell membrane; Multi-pass membrane protein. # SUBUNIT AT2B1_HUMAN Interacts with PDZD11. Interacts with SLC35G1 and STIM1. {ECO 0000269|PubMed 12763866, ECO 0000269|PubMed 22084111}. # SUPFAM SSF56784 SSF56784; 2 # SUPFAM SSF81660 SSF81660 # TCDB 3.A.3.2.25 the p-type atpase (p-atpase) superfamily # TIGRFAMs TIGR01494 ATPase_P-type; 3 # TIGRFAMs TIGR01517 ATPase-IIB_Ca # TISSUE SPECIFICITY AT2B1_HUMAN Isoform B is ubiquitously expressed. Isoform C is found in brain cortex, skeletal muscle and heart muscle. Isoform D has only been found in fetal skeletal muscle. Isoform K has been found in small intestine and liver. # UCSC uc001tbg human. [P20020-1] # eggNOG ENOG410XNNC LUCA # eggNOG KOG0204 Eukaryota BLAST swissprot:AT2B1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:AT2B1_HUMAN BioCyc ZFISH:HS01020-MONOMER http://biocyc.org/getid?id=ZFISH:HS01020-MONOMER COXPRESdb 490 http://coxpresdb.jp/data/gene/490.shtml CleanEx HS_ATP2B1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ATP2B1 DOI 10.1002/jbmr.5650080415 http://dx.doi.org/10.1002/jbmr.5650080415 DOI 10.1007/s001090050088 http://dx.doi.org/10.1007/s001090050088 DOI 10.1016/j.cell.2006.09.026 http://dx.doi.org/10.1016/j.cell.2006.09.026 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/bi00162a016 http://dx.doi.org/10.1021/bi00162a016 DOI 10.1021/bi00436a020 http://dx.doi.org/10.1021/bi00436a020 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1073/pnas.1117231108 http://dx.doi.org/10.1073/pnas.1117231108 DOI 10.1073/pnas.86.18.6908 http://dx.doi.org/10.1073/pnas.86.18.6908 DOI 10.1111/j.1749-6632.2003.tb07230.x http://dx.doi.org/10.1111/j.1749-6632.2003.tb07230.x DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 DOI 10.1126/scisignal.2001570 http://dx.doi.org/10.1126/scisignal.2001570 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EC_number EC:3.6.3.8 http://www.genome.jp/dbget-bin/www_bget?EC:3.6.3.8 EMBL J04027 http://www.ebi.ac.uk/ena/data/view/J04027 EMBL L14561 http://www.ebi.ac.uk/ena/data/view/L14561 EMBL L14561 http://www.ebi.ac.uk/ena/data/view/L14561 EMBL M25824 http://www.ebi.ac.uk/ena/data/view/M25824 EMBL M25824 http://www.ebi.ac.uk/ena/data/view/M25824 EMBL M25824 http://www.ebi.ac.uk/ena/data/view/M25824 EMBL M95541 http://www.ebi.ac.uk/ena/data/view/M95541 EMBL M95542 http://www.ebi.ac.uk/ena/data/view/M95542 EMBL S49852 http://www.ebi.ac.uk/ena/data/view/S49852 EMBL U15686 http://www.ebi.ac.uk/ena/data/view/U15686 EMBL U15687 http://www.ebi.ac.uk/ena/data/view/U15687 ENZYME 3.6.3.8 http://enzyme.expasy.org/EC/3.6.3.8 Ensembl ENST00000261173 http://www.ensembl.org/id/ENST00000261173 Ensembl ENST00000359142 http://www.ensembl.org/id/ENST00000359142 Ensembl ENST00000428670 http://www.ensembl.org/id/ENST00000428670 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0009898 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009898 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016323 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:0032591 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032591 GO_component GO:0032809 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032809 GO_component GO:0043231 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043231 GO_component GO:0045121 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045121 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0005388 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005388 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0030165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030165 GO_function GO:0046872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046872 GO_process GO:0003407 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003407 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0006874 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006874 GO_process GO:0007420 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007420 GO_process GO:0007568 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007568 GO_process GO:0009409 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009409 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0071305 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071305 GO_process GO:0071386 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071386 GO_process GO:1901660 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1901660 GO_process GO:1903779 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903779 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007568 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007568 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.20.1110.10 http://www.cathdb.info/version/latest/superfamily/1.20.1110.10 Gene3D 2.70.150.10 http://www.cathdb.info/version/latest/superfamily/2.70.150.10 Gene3D 3.40.1110.10 http://www.cathdb.info/version/latest/superfamily/3.40.1110.10 GeneCards ATP2B1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ATP2B1 GeneID 490 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=490 GeneTree ENSGT00510000046331 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00510000046331 HGNC HGNC:814 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:814 HOVERGEN HBG061286 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG061286&db=HOVERGEN HPA CAB005605 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB005605 HPA HPA011166 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA011166 HPA HPA012945 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA012945 InParanoid P20020 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P20020 IntAct P20020 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P20020* IntEnz 3.6.3.8 http://www.ebi.ac.uk/intenz/query?cmd=Search&q=3.6.3.8 InterPro IPR001757 http://www.ebi.ac.uk/interpro/entry/IPR001757 InterPro IPR004014 http://www.ebi.ac.uk/interpro/entry/IPR004014 InterPro IPR006068 http://www.ebi.ac.uk/interpro/entry/IPR006068 InterPro IPR006408 http://www.ebi.ac.uk/interpro/entry/IPR006408 InterPro IPR008250 http://www.ebi.ac.uk/interpro/entry/IPR008250 InterPro IPR018303 http://www.ebi.ac.uk/interpro/entry/IPR018303 InterPro IPR022141 http://www.ebi.ac.uk/interpro/entry/IPR022141 InterPro IPR023214 http://www.ebi.ac.uk/interpro/entry/IPR023214 InterPro IPR023298 http://www.ebi.ac.uk/interpro/entry/IPR023298 InterPro IPR023299 http://www.ebi.ac.uk/interpro/entry/IPR023299 InterPro IPR030319 http://www.ebi.ac.uk/interpro/entry/IPR030319 Jabion 490 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=490 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Gene hsa:490 http://www.genome.jp/dbget-bin/www_bget?hsa:490 KEGG_Orthology KO:K05850 http://www.genome.jp/dbget-bin/www_bget?KO:K05850 KEGG_Pathway ko04020 http://www.genome.jp/kegg-bin/show_pathway?ko04020 KEGG_Pathway ko04970 http://www.genome.jp/kegg-bin/show_pathway?ko04970 KEGG_Pathway ko04972 http://www.genome.jp/kegg-bin/show_pathway?ko04972 MIM 108731 http://www.ncbi.nlm.nih.gov/omim/108731 MINT MINT-5004114 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-5004114 OMA IWELAWI http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=IWELAWI PANTHER PTHR24093:SF276 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24093:SF276 PROSITE PS00154 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00154 PSORT swissprot:AT2B1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:AT2B1_HUMAN PSORT-B swissprot:AT2B1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:AT2B1_HUMAN PSORT2 swissprot:AT2B1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:AT2B1_HUMAN Pfam PF00122 http://pfam.xfam.org/family/PF00122 Pfam PF00689 http://pfam.xfam.org/family/PF00689 Pfam PF00690 http://pfam.xfam.org/family/PF00690 Pfam PF12424 http://pfam.xfam.org/family/PF12424 PharmGKB PA25107 http://www.pharmgkb.org/do/serve?objId=PA25107&objCls=Gene Phobius swissprot:AT2B1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:AT2B1_HUMAN PhylomeDB P20020 http://phylomedb.org/?seqid=P20020 ProteinModelPortal P20020 http://www.proteinmodelportal.org/query/uniprot/P20020 PubMed 12763866 http://www.ncbi.nlm.nih.gov/pubmed/12763866 PubMed 1332771 http://www.ncbi.nlm.nih.gov/pubmed/1332771 PubMed 17081983 http://www.ncbi.nlm.nih.gov/pubmed/17081983 PubMed 1827443 http://www.ncbi.nlm.nih.gov/pubmed/1827443 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 21406692 http://www.ncbi.nlm.nih.gov/pubmed/21406692 PubMed 22084111 http://www.ncbi.nlm.nih.gov/pubmed/22084111 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 2528729 http://www.ncbi.nlm.nih.gov/pubmed/2528729 PubMed 2548572 http://www.ncbi.nlm.nih.gov/pubmed/2548572 PubMed 2844759 http://www.ncbi.nlm.nih.gov/pubmed/2844759 PubMed 7694502 http://www.ncbi.nlm.nih.gov/pubmed/7694502 PubMed 7989379 http://www.ncbi.nlm.nih.gov/pubmed/7989379 PubMed 8245032 http://www.ncbi.nlm.nih.gov/pubmed/8245032 PubMed 8386431 http://www.ncbi.nlm.nih.gov/pubmed/8386431 PubMed 8396145 http://www.ncbi.nlm.nih.gov/pubmed/8396145 PubMed 9020386 http://www.ncbi.nlm.nih.gov/pubmed/9020386 Reactome R-HSA-418359 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-418359 Reactome R-HSA-5578775 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5578775 Reactome R-HSA-936837 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-936837 RefSeq NP_001001323 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001001323 RefSeq NP_001673 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001673 RefSeq XP_011536709 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011536709 RefSeq XP_016874847 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016874847 SMART SM00831 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00831 STRING 9606.ENSP00000261173 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000261173&targetmode=cogs SUPFAM SSF56784 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF56784 SUPFAM SSF81660 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81660 TCDB 3.A.3.2.25 http://www.tcdb.org/search/result.php?tc=3.A.3.2.25 TIGRFAMs TIGR01494 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01494 TIGRFAMs TIGR01517 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01517 UCSC uc001tbg http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001tbg&org=rat UniGene Hs.506276 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.506276 UniProtKB AT2B1_HUMAN http://www.uniprot.org/uniprot/AT2B1_HUMAN UniProtKB-AC P20020 http://www.uniprot.org/uniprot/P20020 charge swissprot:AT2B1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:AT2B1_HUMAN eggNOG ENOG410XNNC http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XNNC eggNOG KOG0204 http://eggnogapi.embl.de/nog_data/html/tree/KOG0204 epestfind swissprot:AT2B1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:AT2B1_HUMAN garnier swissprot:AT2B1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:AT2B1_HUMAN helixturnhelix swissprot:AT2B1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:AT2B1_HUMAN hmoment swissprot:AT2B1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:AT2B1_HUMAN iep swissprot:AT2B1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:AT2B1_HUMAN inforesidue swissprot:AT2B1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:AT2B1_HUMAN neXtProt NX_P20020 http://www.nextprot.org/db/entry/NX_P20020 octanol swissprot:AT2B1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:AT2B1_HUMAN pepcoil swissprot:AT2B1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:AT2B1_HUMAN pepdigest swissprot:AT2B1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:AT2B1_HUMAN pepinfo swissprot:AT2B1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:AT2B1_HUMAN pepnet swissprot:AT2B1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:AT2B1_HUMAN pepstats swissprot:AT2B1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:AT2B1_HUMAN pepwheel swissprot:AT2B1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:AT2B1_HUMAN pepwindow swissprot:AT2B1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:AT2B1_HUMAN sigcleave swissprot:AT2B1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:AT2B1_HUMAN ## Database ID URL or Descriptions # AltName KCNK5_HUMAN Acid-sensitive potassium channel protein TASK-2 # AltName KCNK5_HUMAN TWIK-related acid-sensitive K(+) channel 2 # BioGrid 114197 2 # ChiTaRS KCNK5 human # Ensembl ENST00000359534 ENSP00000352527; ENSG00000164626 # ExpressionAtlas O95279 baseline and differential # FUNCTION KCNK5_HUMAN pH-dependent, voltage insensitive, outwardly rectifying potassium channel. Outward rectification is lost at high external K(+) concentrations. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_function GO:0005249 voltage-gated potassium channel activity; IEA:Ensembl. # GO_function GO:0005267 potassium channel activity; TAS:ProtInc. # GO_function GO:0022841 potassium ion leak channel activity; IBA:GO_Central. # GO_process GO:0006813 potassium ion transport; TAS:ProtInc. # GO_process GO:0007588 excretion; TAS:ProtInc. # GO_process GO:0030322 stabilization of membrane potential; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # Genevisible O95279 HS # HGNC HGNC:6280 KCNK5 # InterPro IPR003092 2pore_dom_K_chnl_TASK # InterPro IPR003280 2pore_dom_K_chnl # InterPro IPR013099 K_chnl_dom # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04974 Protein digestion and absorption # MIM 603493 gene # MISCELLANEOUS KCNK5_HUMAN Inhibited by quinine, quinidine and external acidification. # Organism KCNK5_HUMAN Homo sapiens (Human) # PRINTS PR01095 TASKCHANNEL # PRINTS PR01333 2POREKCHANEL # Pfam PF07885 Ion_trans_2; 2 # Proteomes UP000005640 Chromosome 6 # Reactome R-HSA-5576886 Phase 4 - resting membrane potential # RecName KCNK5_HUMAN Potassium channel subfamily K member 5 # RefSeq NP_003731 NM_003740.3 # SIMILARITY Belongs to the two pore domain potassium channel (TC 1.A.1.8) family. {ECO 0000305}. # SUBCELLULAR LOCATION KCNK5_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # SUBUNIT KCNK5_HUMAN Homodimer; disulfide-linked. # TCDB 1.A.1.8 the voltage-gated ion channel (vic) superfamily # TISSUE SPECIFICITY KCNK5_HUMAN Abundant expression in kidney, also detected in liver, placenta and small intestine. In the kidney, expression is restricted to the distal tubules and collecting ducts. Not expressed in proximal tubules or glomeruli. # UCSC uc003oon human # eggNOG COG1226 LUCA # eggNOG KOG1418 Eukaryota BLAST swissprot:KCNK5_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCNK5_HUMAN BioCyc ZFISH:ENSG00000164626-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000164626-MONOMER COXPRESdb 8645 http://coxpresdb.jp/data/gene/8645.shtml CleanEx HS_KCNK5 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNK5 DOI 10.1016/j.molcel.2008.07.007 http://dx.doi.org/10.1016/j.molcel.2008.07.007 DOI 10.1038/bjp.2008.213 http://dx.doi.org/10.1038/bjp.2008.213 DOI 10.1038/nature02055 http://dx.doi.org/10.1038/nature02055 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.273.47.30863 http://dx.doi.org/10.1074/jbc.273.47.30863 DOI 10.1080/0968768031000084181 http://dx.doi.org/10.1080/0968768031000084181 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AF084830 http://www.ebi.ac.uk/ena/data/view/AF084830 EMBL AK314298 http://www.ebi.ac.uk/ena/data/view/AK314298 EMBL AL451185 http://www.ebi.ac.uk/ena/data/view/AL451185 EMBL BC060793 http://www.ebi.ac.uk/ena/data/view/BC060793 EMBL BC069573 http://www.ebi.ac.uk/ena/data/view/BC069573 EMBL CH471081 http://www.ebi.ac.uk/ena/data/view/CH471081 EMBL EU978936 http://www.ebi.ac.uk/ena/data/view/EU978936 Ensembl ENST00000359534 http://www.ensembl.org/id/ENST00000359534 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0005249 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005249 GO_function GO:0005267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005267 GO_function GO:0022841 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022841 GO_process GO:0006813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006813 GO_process GO:0007588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007588 GO_process GO:0030322 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030322 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GeneCards KCNK5 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNK5 GeneID 8645 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=8645 GeneTree ENSGT00760000118858 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118858 HGNC HGNC:6280 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6280 HOGENOM HOG000113211 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000113211&db=HOGENOM6 HOVERGEN HBG052236 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052236&db=HOVERGEN HPA HPA059148 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA059148 InParanoid O95279 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O95279 IntAct O95279 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O95279* InterPro IPR003092 http://www.ebi.ac.uk/interpro/entry/IPR003092 InterPro IPR003280 http://www.ebi.ac.uk/interpro/entry/IPR003280 InterPro IPR013099 http://www.ebi.ac.uk/interpro/entry/IPR013099 Jabion 8645 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=8645 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:8645 http://www.genome.jp/dbget-bin/www_bget?hsa:8645 KEGG_Orthology KO:K04916 http://www.genome.jp/dbget-bin/www_bget?KO:K04916 KEGG_Pathway ko04974 http://www.genome.jp/kegg-bin/show_pathway?ko04974 MIM 603493 http://www.ncbi.nlm.nih.gov/omim/603493 OMA EQLMNEY http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=EQLMNEY OrthoDB EOG091G058Z http://cegg.unige.ch/orthodb/results?searchtext=EOG091G058Z PRINTS PR01095 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01095 PRINTS PR01333 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01333 PSORT swissprot:KCNK5_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCNK5_HUMAN PSORT-B swissprot:KCNK5_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCNK5_HUMAN PSORT2 swissprot:KCNK5_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCNK5_HUMAN Pfam PF07885 http://pfam.xfam.org/family/PF07885 PharmGKB PA30062 http://www.pharmgkb.org/do/serve?objId=PA30062&objCls=Gene Phobius swissprot:KCNK5_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCNK5_HUMAN PhylomeDB O95279 http://phylomedb.org/?seqid=O95279 ProteinModelPortal O95279 http://www.proteinmodelportal.org/query/uniprot/O95279 PubMed 12851074 http://www.ncbi.nlm.nih.gov/pubmed/12851074 PubMed 14574404 http://www.ncbi.nlm.nih.gov/pubmed/14574404 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 18516069 http://www.ncbi.nlm.nih.gov/pubmed/18516069 PubMed 18691976 http://www.ncbi.nlm.nih.gov/pubmed/18691976 PubMed 9812978 http://www.ncbi.nlm.nih.gov/pubmed/9812978 Reactome R-HSA-5576886 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576886 RefSeq NP_003731 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_003731 SMR O95279 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=O95279 STRING 9606.ENSP00000352527 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000352527&targetmode=cogs TCDB 1.A.1.8 http://www.tcdb.org/search/result.php?tc=1.A.1.8 UCSC uc003oon http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003oon&org=rat UniGene Hs.444448 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.444448 UniProtKB KCNK5_HUMAN http://www.uniprot.org/uniprot/KCNK5_HUMAN UniProtKB-AC O95279 http://www.uniprot.org/uniprot/O95279 charge swissprot:KCNK5_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCNK5_HUMAN eggNOG COG1226 http://eggnogapi.embl.de/nog_data/html/tree/COG1226 eggNOG KOG1418 http://eggnogapi.embl.de/nog_data/html/tree/KOG1418 epestfind swissprot:KCNK5_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCNK5_HUMAN garnier swissprot:KCNK5_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCNK5_HUMAN helixturnhelix swissprot:KCNK5_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCNK5_HUMAN hmoment swissprot:KCNK5_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCNK5_HUMAN iep swissprot:KCNK5_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCNK5_HUMAN inforesidue swissprot:KCNK5_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCNK5_HUMAN neXtProt NX_O95279 http://www.nextprot.org/db/entry/NX_O95279 octanol swissprot:KCNK5_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCNK5_HUMAN pepcoil swissprot:KCNK5_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCNK5_HUMAN pepdigest swissprot:KCNK5_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCNK5_HUMAN pepinfo swissprot:KCNK5_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCNK5_HUMAN pepnet swissprot:KCNK5_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCNK5_HUMAN pepstats swissprot:KCNK5_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCNK5_HUMAN pepwheel swissprot:KCNK5_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCNK5_HUMAN pepwindow swissprot:KCNK5_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCNK5_HUMAN sigcleave swissprot:KCNK5_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCNK5_HUMAN ## Database ID URL or Descriptions # AltName S26A2_HUMAN Diastrophic dysplasia protein # AltName S26A2_HUMAN Solute carrier family 26 member 2 # BioGrid 108169 13 # ChiTaRS SLC26A2 human # DISEASE S26A2_HUMAN Achondrogenesis 1B (ACG1B) [MIM 600972] A form of achondrogenesis type 1, a lethal form of chondrodysplasia characterized by deficient ossification in the lumbar vertebrae and absent ossification in the sacral, pubic and ischial bones and clinically by stillbirth or early death. In addition to severe micromelia, there is a disproportionately large cranium due to marked edema of soft tissues. {ECO 0000269|PubMed 8528239}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE S26A2_HUMAN Atelosteogenesis 2 (AO2) [MIM 256050] A perinatal dysplasia characterized by shortening of the limbs, a dysmorphic syndrome and radiographic skeletal features. Patients are stillborn or die soon after birth. {ECO 0000269|PubMed 8571951}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE S26A2_HUMAN Diastrophic dysplasia (DTD) [MIM 222600] An autosomal recessive disease characterized by osteochondrodysplasia with clinical features including dwarfism, spinal deformation, and specific joint abnormalities. {ECO 0000269|PubMed 10466420}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE S26A2_HUMAN Multiple epiphyseal dysplasia 4 (EDM4) [MIM 226900] A generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. Radiological examination of the skeleton shows delayed, irregular mineralization of the epiphyseal ossification centers and of the centers of the carpal and tarsal bones. Multiple epiphyseal dysplasia is broadly categorized into the more severe Fairbank and the milder Ribbing types. The Fairbank type is characterized by shortness of stature, short and stubby fingers, small epiphyses in several joints, including the knee, ankle, hand, and hip. The Ribbing type is confined predominantly to the hip joints and is characterized by hands that are normal and stature that is normal or near-normal. Multiple epiphyseal dysplasia type 4 is a recessively inherited form, characterized by early childhood-onset hip dysplasia and recurrent patella dislocation. Short stature is not frequent. {ECO 0000269|PubMed 12966518, ECO 0000269|PubMed 21922596}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000286298 ENSP00000286298; ENSG00000155850 # ExpressionAtlas P50443 baseline and differential # FUNCTION S26A2_HUMAN Sulfate transporter. May play a role in endochondral bone formation. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0016020 membrane; TAS:ProtInc. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0005254 chloride channel activity; IBA:GO_Central. # GO_function GO:0008271 secondary active sulfate transmembrane transporter activity; IEA:InterPro. # GO_function GO:0015106 bicarbonate transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015116 sulfate transmembrane transporter activity; TAS:Reactome. # GO_function GO:0019531 oxalate transmembrane transporter activity; IBA:GO_Central. # GO_function S26A2_HUMAN GO 0015301 anion anion antiporter activity; IBA GO_Central. # GO_process GO:0001503 ossification; IEA:Ensembl. # GO_process GO:0006811 ion transport; TAS:Reactome. # GO_process GO:0008272 sulfate transport; TAS:ProtInc. # GO_process GO:0015701 bicarbonate transport; IBA:GO_Central. # GO_process GO:0042391 regulation of membrane potential; IBA:GO_Central. # GO_process GO:0050428 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process; TAS:Reactome. # GO_process GO:0051453 regulation of intracellular pH; IBA:GO_Central. # GO_process GO:1902476 chloride transmembrane transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006790 sulfur compound metabolic process # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0044281 small molecule metabolic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 3.30.750.24 -; 2. # Genevisible P50443 HS # HGNC HGNC:10994 SLC26A2 # InterPro IPR001902 SLC26A/SulP_fam # InterPro IPR002645 STAS_dom # InterPro IPR011547 SLC26A/SulP_dom # InterPro IPR018045 S04_transporter_CS # InterPro IPR030280 SLC26A2 # KEGG_Brite ko02001 Solute carrier family # KEGG_Disease H00476 [Skeletal dysplasia] Multiple epiphyseal dysplasia (MED) # KEGG_Disease H00515 [Skeletal dysplasia] Diastrophic dysplasia (DTD) # MIM 222600 phenotype # MIM 226900 phenotype # MIM 256050 phenotype # MIM 600972 phenotype # MIM 606718 gene # Organism S26A2_HUMAN Homo sapiens (Human) # Orphanet 56304 Atelosteogenesis type II # Orphanet 628 Diastrophic dwarfism # Orphanet 93298 Achondrogenesis type 1B # Orphanet 93307 Multiple epiphyseal dysplasia type 4 # PANTHER PTHR11814 PTHR11814; 3 # PANTHER PTHR11814:SF16 PTHR11814:SF16; 3 # PIR A54808 A54808 # PROSITE PS01130 SLC26A # PROSITE PS50801 STAS # Pfam PF00916 Sulfate_transp # Pfam PF01740 STAS # Proteomes UP000005640 Chromosome 5 # Reactome R-HSA-174362 Transport and synthesis of PAPS # Reactome R-HSA-427601 Multifunctional anion exchangers # RecName S26A2_HUMAN Sulfate transporter # RefSeq NP_000103 NM_000112.3 # RefSeq XP_016864680 XM_017009191.1 # SIMILARITY Belongs to the SLC26A/SulP transporter (TC 2.A.53) family. {ECO 0000305}. # SIMILARITY Contains 1 STAS domain. {ECO:0000255|PROSITE- ProRule PRU00198}. # SUBCELLULAR LOCATION S26A2_HUMAN Membrane; Multi-pass membrane protein. # SUPFAM SSF52091 SSF52091; 2 # TCDB 2.A.53.2 the sulfate permease (sulp) family # TIGRFAMs TIGR00815 sulP # TISSUE SPECIFICITY S26A2_HUMAN Ubiquitously expressed. # UCSC uc003lrh human # eggNOG COG0659 LUCA # eggNOG KOG0236 Eukaryota BLAST swissprot:S26A2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S26A2_HUMAN BioCyc ZFISH:ENSG00000155850-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000155850-MONOMER COXPRESdb 1836 http://coxpresdb.jp/data/gene/1836.shtml CleanEx HS_SLC26A2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC26A2 DOI 10.1002/ajmg.a.20282 http://dx.doi.org/10.1002/ajmg.a.20282 DOI 10.1002/humu.21611 http://dx.doi.org/10.1002/humu.21611 DOI 10.1016/0092-8674(94)90281-X http://dx.doi.org/10.1016/0092-8674(94)90281-X DOI 10.1034/j.1399-0004.1999.560110.x http://dx.doi.org/10.1034/j.1399-0004.1999.560110.x DOI 10.1038/nature02919 http://dx.doi.org/10.1038/nature02919 DOI 10.1038/ng0196-100 http://dx.doi.org/10.1038/ng0196-100 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 EMBL AC008427 http://www.ebi.ac.uk/ena/data/view/AC008427 EMBL AK290358 http://www.ebi.ac.uk/ena/data/view/AK290358 EMBL AK312596 http://www.ebi.ac.uk/ena/data/view/AK312596 EMBL BC059390 http://www.ebi.ac.uk/ena/data/view/BC059390 EMBL BX640696 http://www.ebi.ac.uk/ena/data/view/BX640696 EMBL CH471062 http://www.ebi.ac.uk/ena/data/view/CH471062 EMBL U14528 http://www.ebi.ac.uk/ena/data/view/U14528 Ensembl ENST00000286298 http://www.ensembl.org/id/ENST00000286298 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0005254 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005254 GO_function GO:0008271 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008271 GO_function GO:0015106 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015106 GO_function GO:0015116 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015116 GO_function GO:0015301 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015301 GO_function GO:0019531 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019531 GO_process GO:0001503 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001503 GO_process GO:0006811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006811 GO_process GO:0008272 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008272 GO_process GO:0015701 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015701 GO_process GO:0042391 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042391 GO_process GO:0050428 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050428 GO_process GO:0051453 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051453 GO_process GO:1902476 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902476 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006790 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006790 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 3.30.750.24 http://www.cathdb.info/version/latest/superfamily/3.30.750.24 GeneCards SLC26A2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC26A2 GeneID 1836 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=1836 GeneTree ENSGT00760000119026 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119026 H-InvDB HIX0005307 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0005307 HGNC HGNC:10994 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10994 HOGENOM HOG000006546 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000006546&db=HOGENOM6 HOVERGEN HBG000639 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG000639&db=HOVERGEN HPA HPA041957 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA041957 HPA HPA058090 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA058090 InParanoid P50443 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P50443 IntAct P50443 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P50443* InterPro IPR001902 http://www.ebi.ac.uk/interpro/entry/IPR001902 InterPro IPR002645 http://www.ebi.ac.uk/interpro/entry/IPR002645 InterPro IPR011547 http://www.ebi.ac.uk/interpro/entry/IPR011547 InterPro IPR018045 http://www.ebi.ac.uk/interpro/entry/IPR018045 InterPro IPR030280 http://www.ebi.ac.uk/interpro/entry/IPR030280 Jabion 1836 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=1836 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Disease H00476 http://www.genome.jp/dbget-bin/www_bget?H00476 KEGG_Disease H00515 http://www.genome.jp/dbget-bin/www_bget?H00515 KEGG_Gene hsa:1836 http://www.genome.jp/dbget-bin/www_bget?hsa:1836 KEGG_Orthology KO:K14701 http://www.genome.jp/dbget-bin/www_bget?KO:K14701 MIM 222600 http://www.ncbi.nlm.nih.gov/omim/222600 MIM 226900 http://www.ncbi.nlm.nih.gov/omim/226900 MIM 256050 http://www.ncbi.nlm.nih.gov/omim/256050 MIM 600972 http://www.ncbi.nlm.nih.gov/omim/600972 MIM 606718 http://www.ncbi.nlm.nih.gov/omim/606718 MINT MINT-5001062 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-5001062 OMA YPRIHME http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=YPRIHME Orphanet 56304 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=56304 Orphanet 628 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=628 Orphanet 93298 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=93298 Orphanet 93307 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=93307 OrthoDB EOG091G07RT http://cegg.unige.ch/orthodb/results?searchtext=EOG091G07RT PANTHER PTHR11814 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11814 PANTHER PTHR11814:SF16 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11814:SF16 PROSITE PS01130 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS01130 PROSITE PS50801 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50801 PSORT swissprot:S26A2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S26A2_HUMAN PSORT-B swissprot:S26A2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S26A2_HUMAN PSORT2 swissprot:S26A2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S26A2_HUMAN Pfam PF00916 http://pfam.xfam.org/family/PF00916 Pfam PF01740 http://pfam.xfam.org/family/PF01740 PharmGKB PA149 http://www.pharmgkb.org/do/serve?objId=PA149&objCls=Gene Phobius swissprot:S26A2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S26A2_HUMAN PhylomeDB P50443 http://phylomedb.org/?seqid=P50443 ProteinModelPortal P50443 http://www.proteinmodelportal.org/query/uniprot/P50443 PubMed 10466420 http://www.ncbi.nlm.nih.gov/pubmed/10466420 PubMed 12966518 http://www.ncbi.nlm.nih.gov/pubmed/12966518 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15372022 http://www.ncbi.nlm.nih.gov/pubmed/15372022 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 21922596 http://www.ncbi.nlm.nih.gov/pubmed/21922596 PubMed 7923357 http://www.ncbi.nlm.nih.gov/pubmed/7923357 PubMed 8528239 http://www.ncbi.nlm.nih.gov/pubmed/8528239 PubMed 8571951 http://www.ncbi.nlm.nih.gov/pubmed/8571951 Reactome R-HSA-174362 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-174362 Reactome R-HSA-427601 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-427601 RefSeq NP_000103 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000103 RefSeq XP_016864680 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016864680 STRING 9606.ENSP00000286298 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000286298&targetmode=cogs SUPFAM SSF52091 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52091 TCDB 2.A.53.2 http://www.tcdb.org/search/result.php?tc=2.A.53.2 TIGRFAMs TIGR00815 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00815 UCSC uc003lrh http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003lrh&org=rat UniGene Hs.302738 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.302738 UniProtKB S26A2_HUMAN http://www.uniprot.org/uniprot/S26A2_HUMAN UniProtKB-AC P50443 http://www.uniprot.org/uniprot/P50443 charge swissprot:S26A2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S26A2_HUMAN eggNOG COG0659 http://eggnogapi.embl.de/nog_data/html/tree/COG0659 eggNOG KOG0236 http://eggnogapi.embl.de/nog_data/html/tree/KOG0236 epestfind swissprot:S26A2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S26A2_HUMAN garnier swissprot:S26A2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S26A2_HUMAN helixturnhelix swissprot:S26A2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S26A2_HUMAN hmoment swissprot:S26A2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S26A2_HUMAN iep swissprot:S26A2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S26A2_HUMAN inforesidue swissprot:S26A2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S26A2_HUMAN neXtProt NX_P50443 http://www.nextprot.org/db/entry/NX_P50443 octanol swissprot:S26A2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S26A2_HUMAN pepcoil swissprot:S26A2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S26A2_HUMAN pepdigest swissprot:S26A2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S26A2_HUMAN pepinfo swissprot:S26A2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S26A2_HUMAN pepnet swissprot:S26A2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S26A2_HUMAN pepstats swissprot:S26A2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S26A2_HUMAN pepwheel swissprot:S26A2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S26A2_HUMAN pepwindow swissprot:S26A2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S26A2_HUMAN sigcleave swissprot:S26A2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S26A2_HUMAN ## Database ID URL or Descriptions # BioGrid 119795 5 # Ensembl ENST00000270310 ENSP00000270310; ENSG00000221946 # ExpressionAtlas P58549 baseline and differential # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0005216 ion channel activity; IEA:InterPro. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0043269 regulation of ion transport; IEA:Ensembl. # GO_process GO:1903779 regulation of cardiac conduction; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0008150 biological_process # GOslim_process GO:0055085 transmembrane transport # Genevisible P58549 HS # HGNC HGNC:4034 FXYD7 # INTERACTION FXYD7_HUMAN Q92624 APPBP2; NbExp=5; IntAct=EBI-10216171, EBI-743771; O43765 SGTA; NbExp=7; IntAct=EBI-10216171, EBI-347996; # IntAct P58549 2 # InterPro IPR000272 Ion-transport_regulator_FXYD # KEGG_Brite ko02000 Transporters # MIM 606684 gene # Organism FXYD7_HUMAN Homo sapiens (Human) # PROSITE PS01310 FXYD # Pfam PF02038 ATP1G1_PLM_MAT8 # ProDom PD005989 PD005989 # Proteomes UP000005640 Chromosome 19 # Reactome R-HSA-5578775 Ion homeostasis # Reactome R-HSA-936837 Ion transport by P-type ATPases # RecName FXYD7_HUMAN FXYD domain-containing ion transport regulator 7 # RefSeq NP_071289 NM_022006.1 # SIMILARITY Belongs to the FXYD family. {ECO 0000305}. # SUBCELLULAR LOCATION FXYD7_HUMAN Membrane {ECO 0000305}; Single-pass membrane protein {ECO 0000305}. # UCSC uc002nye human # eggNOG ENOG410J7S9 Eukaryota # eggNOG ENOG4111ECY LUCA BLAST swissprot:FXYD7_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:FXYD7_HUMAN BioCyc ZFISH:G66-33204-MONOMER http://biocyc.org/getid?id=ZFISH:G66-33204-MONOMER COXPRESdb 53822 http://coxpresdb.jp/data/gene/53822.shtml CleanEx HS_FXYD7 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_FXYD7 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL BC018619 http://www.ebi.ac.uk/ena/data/view/BC018619 Ensembl ENST00000270310 http://www.ensembl.org/id/ENST00000270310 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005216 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005216 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0043269 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043269 GO_process GO:1903779 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903779 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards FXYD7 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=FXYD7 GeneID 53822 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=53822 GeneTree ENSGT00530000064670 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000064670 HGNC HGNC:4034 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:4034 HOGENOM HOG000112680 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000112680&db=HOGENOM6 HOVERGEN HBG051679 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG051679&db=HOVERGEN HPA HPA026916 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA026916 InParanoid P58549 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P58549 IntAct P58549 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P58549* InterPro IPR000272 http://www.ebi.ac.uk/interpro/entry/IPR000272 Jabion 53822 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=53822 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Gene hsa:53822 http://www.genome.jp/dbget-bin/www_bget?hsa:53822 KEGG_Orthology KO:K13364 http://www.genome.jp/dbget-bin/www_bget?KO:K13364 MIM 606684 http://www.ncbi.nlm.nih.gov/omim/606684 PROSITE PS01310 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS01310 PSORT swissprot:FXYD7_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:FXYD7_HUMAN PSORT-B swissprot:FXYD7_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:FXYD7_HUMAN PSORT2 swissprot:FXYD7_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:FXYD7_HUMAN Pfam PF02038 http://pfam.xfam.org/family/PF02038 PharmGKB PA28450 http://www.pharmgkb.org/do/serve?objId=PA28450&objCls=Gene Phobius swissprot:FXYD7_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:FXYD7_HUMAN PhylomeDB P58549 http://phylomedb.org/?seqid=P58549 ProteinModelPortal P58549 http://www.proteinmodelportal.org/query/uniprot/P58549 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 Reactome R-HSA-5578775 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5578775 Reactome R-HSA-936837 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-936837 RefSeq NP_071289 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_071289 SMR P58549 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P58549 STRING 9606.ENSP00000270310 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000270310&targetmode=cogs UCSC uc002nye http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002nye&org=rat UniGene Hs.134729 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.134729 UniProtKB FXYD7_HUMAN http://www.uniprot.org/uniprot/FXYD7_HUMAN UniProtKB-AC P58549 http://www.uniprot.org/uniprot/P58549 charge swissprot:FXYD7_HUMAN http://rest.g-language.org/emboss/charge/swissprot:FXYD7_HUMAN eggNOG ENOG410J7S9 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410J7S9 eggNOG ENOG4111ECY http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111ECY epestfind swissprot:FXYD7_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:FXYD7_HUMAN garnier swissprot:FXYD7_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:FXYD7_HUMAN helixturnhelix swissprot:FXYD7_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:FXYD7_HUMAN hmoment swissprot:FXYD7_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:FXYD7_HUMAN iep swissprot:FXYD7_HUMAN http://rest.g-language.org/emboss/iep/swissprot:FXYD7_HUMAN inforesidue swissprot:FXYD7_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:FXYD7_HUMAN neXtProt NX_P58549 http://www.nextprot.org/db/entry/NX_P58549 octanol swissprot:FXYD7_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:FXYD7_HUMAN pepcoil swissprot:FXYD7_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:FXYD7_HUMAN pepdigest swissprot:FXYD7_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:FXYD7_HUMAN pepinfo swissprot:FXYD7_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:FXYD7_HUMAN pepnet swissprot:FXYD7_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:FXYD7_HUMAN pepstats swissprot:FXYD7_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:FXYD7_HUMAN pepwheel swissprot:FXYD7_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:FXYD7_HUMAN pepwindow swissprot:FXYD7_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:FXYD7_HUMAN sigcleave swissprot:FXYD7_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:FXYD7_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S38A5_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8WUX1-1; Sequence=Displayed; Name=2; IsoId=Q8WUX1-2; Sequence=VSP_029702; Note=No experimental confirmation available.; # AltName S38A5_HUMAN Solute carrier family 38 member 5 # AltName S38A5_HUMAN System N transporter 2 # BIOPHYSICOCHEMICAL PROPERTIES Kinetic parameters: KM=0.6 mM for histidine (at pH 8.0) {ECO 0000269|PubMed:11243884}; # BioGrid 124974 8 # CCDS CCDS14293 -. [Q8WUX1-1] # ChiTaRS SLC38A5 human # ENZYME REGULATION Not inhibited by lithium. {ECO:0000269|PubMed 11243884}. # Ensembl ENST00000595796 ENSP00000471683; ENSG00000017483. [Q8WUX1-1] # Ensembl ENST00000619100 ENSP00000478807; ENSG00000017483. [Q8WUX1-2] # Ensembl ENST00000620913 ENSP00000481291; ENSG00000017483. [Q8WUX1-1] # ExpressionAtlas Q8WUX1 baseline and differential # FUNCTION S38A5_HUMAN Functions as a sodium-dependent amino acid transporter which countertransport protons. Mediates the saturable, pH- sensitive, and electrogenic cotransport of several neutral amino acids including glycine, asparagine, alanine, serine, glutamine and histidine with sodium. {ECO 0000269|PubMed 11243884}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_function GO:0015171 amino acid transmembrane transporter activity; TAS:Reactome. # GO_function GO:0015187 glycine transmembrane transporter activity; IBA:GO_Central. # GO_process GO:0006865 amino acid transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # Genevisible Q8WUX1 HS # HGNC HGNC:18070 SLC38A5 # IntAct Q8WUX1 8 # InterPro IPR013057 AA_transpt_TM # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02001 Solute carrier family # KEGG_Pathway ko04727 GABAergic synapse # MIM 300649 gene # Organism S38A5_HUMAN Homo sapiens (Human) # PIR JC7626 JC7626 # Pfam PF01490 Aa_trans # Proteomes UP000005640 Chromosome X # Reactome R-HSA-352230 Amino acid transport across the plasma membrane # RecName S38A5_HUMAN Sodium-coupled neutral amino acid transporter 5 # RefSeq NP_277053 NM_033518.3. [Q8WUX1-1] # RefSeq XP_016885450 XM_017029961.1. [Q8WUX1-1] # SEQUENCE CAUTION Sequence=AAL55865.1; Type=Frameshift; Positions=161, 466; Evidence={ECO 0000305}; # SIMILARITY Belongs to the amino acid/polyamine transporter 2 family. {ECO 0000305}. # SUBCELLULAR LOCATION S38A5_HUMAN Cell membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. # TCDB 2.A.18.6.15 the amino acid/auxin permease (aaap) family # TISSUE SPECIFICITY Predominantly expressed in stomach, brain, liver, lung and intestinal tract. {ECO:0000269|PubMed 11243884}. # UCSC uc033ecl human. [Q8WUX1-1] # eggNOG COG0814 LUCA # eggNOG KOG1305 Eukaryota BLAST swissprot:S38A5_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S38A5_HUMAN COXPRESdb 92745 http://coxpresdb.jp/data/gene/92745.shtml CleanEx HS_SLC38A5 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC38A5 DOI 10.1006/bbrc.2001.4504 http://dx.doi.org/10.1006/bbrc.2001.4504 DOI 10.1038/nature03440 http://dx.doi.org/10.1038/nature03440 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.0404089101 http://dx.doi.org/10.1073/pnas.0404089101 DOI 10.1073/pnas.1210303109 http://dx.doi.org/10.1073/pnas.1210303109 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AF196972 http://www.ebi.ac.uk/ena/data/view/AF196972 EMBL AF276889 http://www.ebi.ac.uk/ena/data/view/AF276889 EMBL AF318358 http://www.ebi.ac.uk/ena/data/view/AF318358 EMBL AK094788 http://www.ebi.ac.uk/ena/data/view/AK094788 EMBL BC019246 http://www.ebi.ac.uk/ena/data/view/BC019246 EMBL BC027721 http://www.ebi.ac.uk/ena/data/view/BC027721 EMBL CH471224 http://www.ebi.ac.uk/ena/data/view/CH471224 Ensembl ENST00000595796 http://www.ensembl.org/id/ENST00000595796 Ensembl ENST00000619100 http://www.ensembl.org/id/ENST00000619100 Ensembl ENST00000620913 http://www.ensembl.org/id/ENST00000620913 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0015171 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015171 GO_function GO:0015187 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015187 GO_process GO:0006865 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006865 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GeneCards SLC38A5 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC38A5 GeneID 92745 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=92745 GeneTree ENSGT00760000119147 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119147 H-InvDB HIX0016773 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0016773 HGNC HGNC:18070 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:18070 HOGENOM HOG000013088 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000013088&db=HOGENOM6 HOVERGEN HBG059571 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG059571&db=HOVERGEN HPA HPA047411 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA047411 InParanoid Q8WUX1 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8WUX1 IntAct Q8WUX1 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q8WUX1* InterPro IPR013057 http://www.ebi.ac.uk/interpro/entry/IPR013057 Jabion 92745 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=92745 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:92745 http://www.genome.jp/dbget-bin/www_bget?hsa:92745 KEGG_Orthology KO:K14992 http://www.genome.jp/dbget-bin/www_bget?KO:K14992 KEGG_Pathway ko04727 http://www.genome.jp/kegg-bin/show_pathway?ko04727 MIM 300649 http://www.ncbi.nlm.nih.gov/omim/300649 OMA MLHMYSK http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=MLHMYSK OrthoDB EOG091G0GP8 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0GP8 PSORT swissprot:S38A5_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S38A5_HUMAN PSORT-B swissprot:S38A5_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S38A5_HUMAN PSORT2 swissprot:S38A5_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S38A5_HUMAN Pfam PF01490 http://pfam.xfam.org/family/PF01490 PharmGKB PA38289 http://www.pharmgkb.org/do/serve?objId=PA38289&objCls=Gene Phobius swissprot:S38A5_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S38A5_HUMAN PhylomeDB Q8WUX1 http://phylomedb.org/?seqid=Q8WUX1 ProteinModelPortal Q8WUX1 http://www.proteinmodelportal.org/query/uniprot/Q8WUX1 PubMed 11243884 http://www.ncbi.nlm.nih.gov/pubmed/11243884 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15498874 http://www.ncbi.nlm.nih.gov/pubmed/15498874 PubMed 15772651 http://www.ncbi.nlm.nih.gov/pubmed/15772651 PubMed 22814378 http://www.ncbi.nlm.nih.gov/pubmed/22814378 Reactome R-HSA-352230 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-352230 RefSeq NP_277053 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_277053 RefSeq XP_016885450 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016885450 STRING 9606.ENSP00000313740 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000313740&targetmode=cogs TCDB 2.A.18.6.15 http://www.tcdb.org/search/result.php?tc=2.A.18.6.15 UCSC uc033ecl http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc033ecl&org=rat UniGene Hs.195155 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.195155 UniProtKB S38A5_HUMAN http://www.uniprot.org/uniprot/S38A5_HUMAN UniProtKB-AC Q8WUX1 http://www.uniprot.org/uniprot/Q8WUX1 charge swissprot:S38A5_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S38A5_HUMAN eggNOG COG0814 http://eggnogapi.embl.de/nog_data/html/tree/COG0814 eggNOG KOG1305 http://eggnogapi.embl.de/nog_data/html/tree/KOG1305 epestfind swissprot:S38A5_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S38A5_HUMAN garnier swissprot:S38A5_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S38A5_HUMAN helixturnhelix swissprot:S38A5_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S38A5_HUMAN hmoment swissprot:S38A5_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S38A5_HUMAN iep swissprot:S38A5_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S38A5_HUMAN inforesidue swissprot:S38A5_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S38A5_HUMAN neXtProt NX_Q8WUX1 http://www.nextprot.org/db/entry/NX_Q8WUX1 octanol swissprot:S38A5_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S38A5_HUMAN pepcoil swissprot:S38A5_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S38A5_HUMAN pepdigest swissprot:S38A5_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S38A5_HUMAN pepinfo swissprot:S38A5_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S38A5_HUMAN pepnet swissprot:S38A5_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S38A5_HUMAN pepstats swissprot:S38A5_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S38A5_HUMAN pepwheel swissprot:S38A5_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S38A5_HUMAN pepwindow swissprot:S38A5_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S38A5_HUMAN sigcleave swissprot:S38A5_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S38A5_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9BZC7-1; Sequence=Displayed; Name=2; IsoId=Q9BZC7-2; Sequence=VSP_035283, VSP_035284; Note=No experimental confirmation available.; Name=3; IsoId=Q9BZC7-3; Sequence=VSP_040937; Note=Ref.1 (AAK14334/AAK14335) and Ref.2 (AAG09372) sequences are in conflict in position: 55 S->P. {ECO:0000305}; # AltName ABCA2_HUMAN ATP-binding cassette transporter 2 # BioGrid 106538 21 # CCDS CCDS43909 -. [Q9BZC7-3] # ChiTaRS ABCA2 human # Ensembl ENST00000341511 ENSP00000344155; ENSG00000107331 # Ensembl ENST00000371605 ENSP00000360666; ENSG00000107331 # ExpressionAtlas Q9BZC7 baseline and differential # FUNCTION ABCA2_HUMAN Probable transporter, its natural substrate has not been found yet. May have a role in macrophage lipid metabolism and neural development. # GO_component GO:0005764 lysosome; IDA:UniProtKB. # GO_component GO:0005765 lysosomal membrane; NAS:UniProtKB. # GO_component GO:0005768 endosome; IDA:UniProtKB. # GO_component GO:0005815 microtubule organizing center; ISS:UniProtKB. # GO_component GO:0010008 endosome membrane; IEA:UniProtKB-SubCell. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; IDA:UniProtKB. # GO_component GO:0016023 cytoplasmic, membrane-bounded vesicle; ISS:UniProtKB. # GO_component GO:0043190 ATP-binding cassette (ABC) transporter complex; NAS:UniProtKB. # GO_function GO:0000166 nucleotide binding; NAS:UniProtKB. # GO_function GO:0005524 ATP binding; IDA:UniProtKB. # GO_function GO:0016887 ATPase activity; IDA:UniProtKB. # GO_function GO:0042626 ATPase activity, coupled to transmembrane movement of substances; NAS:UniProtKB. # GO_process GO:0006357 regulation of transcription from RNA polymerase II promoter; IDA:UniProtKB. # GO_process GO:0006629 lipid metabolic process; NAS:UniProtKB. # GO_process GO:0006810 transport; NAS:UniProtKB. # GO_process GO:0032383 regulation of intracellular cholesterol transport; IMP:UniProtKB. # GO_process GO:0033344 cholesterol efflux; IBA:GO_Central. # GO_process GO:0033700 phospholipid efflux; IBA:GO_Central. # GO_process GO:0042493 response to drug; TAS:UniProtKB. # GO_process GO:0042632 cholesterol homeostasis; IEP:UniProtKB. # GO_process GO:0048545 response to steroid hormone; IEP:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005764 lysosome # GOslim_component GO:0005768 endosome # GOslim_component GO:0005815 microtubule organizing center # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006629 lipid metabolic process # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # Gene3D 3.40.50.300 -; 2. # Genevisible Q9BZC7 HS # HGNC HGNC:32 ABCA2 # IntAct Q9BZC7 16 # InterPro IPR003439 ABC_transporter-like # InterPro IPR003593 AAA+_ATPase # InterPro IPR017871 ABC_transporter_CS # InterPro IPR026082 ABC_A # InterPro IPR027417 P-loop_NTPase # InterPro IPR030366 ABCA2 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02000 Transporters # KEGG_Pathway ko02010 ABC transporters # KEGG_Pathway ko04142 Lysosome # MIM 600047 gene # Organism ABCA2_HUMAN Homo sapiens (Human) # PANTHER PTHR19229 PTHR19229; 5 # PANTHER PTHR19229:SF116 PTHR19229:SF116; 5 # PIR A59189 A59189 # PROSITE PS00211 ABC_TRANSPORTER_1 # PROSITE PS50893 ABC_TRANSPORTER_2; 2 # Pfam PF00005 ABC_tran; 2 # Proteomes UP000005640 Chromosome 9 # Reactome R-HSA-1369062 ABC transporters in lipid homeostasis # RecName ABCA2_HUMAN ATP-binding cassette sub-family A member 2 # RefSeq NP_001597 NM_001606.4 # RefSeq NP_997698 NM_212533.2 # SIMILARITY Belongs to the ABC transporter superfamily. ABCA family. {ECO 0000305}. # SIMILARITY Contains 2 ABC transporter domains. {ECO:0000255|PROSITE-ProRule PRU00434}. # SMART SM00382 AAA; 2 # SUBCELLULAR LOCATION ABCA2_HUMAN Endosome membrane {ECO 0000269|PubMed 11309290}; Multi-pass membrane protein {ECO 0000269|PubMed 11309290}. Lysosome membrane {ECO 0000269|PubMed 11309290}; Multi-pass membrane protein {ECO 0000269|PubMed 11309290}. Note=Forms discrete, punctate intracellular vesicles. # SUPFAM SSF52540 SSF52540; 2 # TCDB 3.A.1.211 the atp-binding cassette (abc) superfamily # TISSUE SPECIFICITY Highly expressed in the brain, whereas lower levels of expression is observed in kidney and liver. {ECO:0000269|PubMed 11309290}. # UCSC uc011mem human. [Q9BZC7-1] # WEB RESOURCE ABCA2_HUMAN Name=ABCMdb; Note=Database for mutations in ABC proteins; URL="http //abcmutations.hegelab.org/proteinDetails?uniprot_id=Q9BZC7"; # eggNOG COG1131 LUCA # eggNOG KOG0059 Eukaryota BLAST swissprot:ABCA2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ABCA2_HUMAN BioCyc ZFISH:ENSG00000107331-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000107331-MONOMER COXPRESdb 20 http://coxpresdb.jp/data/gene/20.shtml CleanEx HS_ABCA2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ABCA2 DOI 10.1006/bbrc.2001.4305 http://dx.doi.org/10.1006/bbrc.2001.4305 DOI 10.1016/j.cell.2006.09.026 http://dx.doi.org/10.1016/j.cell.2006.09.026 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature02465 http://dx.doi.org/10.1038/nature02465 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1093/dnares/6.3.197 http://dx.doi.org/10.1093/dnares/6.3.197 DOI 10.1093/dnares/9.3.99 http://dx.doi.org/10.1093/dnares/9.3.99 EMBL AB028985 http://www.ebi.ac.uk/ena/data/view/AB028985 EMBL AB177854 http://www.ebi.ac.uk/ena/data/view/AB177854 EMBL AF178941 http://www.ebi.ac.uk/ena/data/view/AF178941 EMBL AF327657 http://www.ebi.ac.uk/ena/data/view/AF327657 EMBL AF327658 http://www.ebi.ac.uk/ena/data/view/AF327658 EMBL AF327659 http://www.ebi.ac.uk/ena/data/view/AF327659 EMBL AF327660 http://www.ebi.ac.uk/ena/data/view/AF327660 EMBL AF327661 http://www.ebi.ac.uk/ena/data/view/AF327661 EMBL AF327662 http://www.ebi.ac.uk/ena/data/view/AF327662 EMBL AF327663 http://www.ebi.ac.uk/ena/data/view/AF327663 EMBL AF327664 http://www.ebi.ac.uk/ena/data/view/AF327664 EMBL AF327665 http://www.ebi.ac.uk/ena/data/view/AF327665 EMBL AF327666 http://www.ebi.ac.uk/ena/data/view/AF327666 EMBL AF327667 http://www.ebi.ac.uk/ena/data/view/AF327667 EMBL AF327668 http://www.ebi.ac.uk/ena/data/view/AF327668 EMBL AF327669 http://www.ebi.ac.uk/ena/data/view/AF327669 EMBL AF327670 http://www.ebi.ac.uk/ena/data/view/AF327670 EMBL AF327671 http://www.ebi.ac.uk/ena/data/view/AF327671 EMBL AF327672 http://www.ebi.ac.uk/ena/data/view/AF327672 EMBL AF327673 http://www.ebi.ac.uk/ena/data/view/AF327673 EMBL AF327674 http://www.ebi.ac.uk/ena/data/view/AF327674 EMBL AF327675 http://www.ebi.ac.uk/ena/data/view/AF327675 EMBL AF327676 http://www.ebi.ac.uk/ena/data/view/AF327676 EMBL AF327677 http://www.ebi.ac.uk/ena/data/view/AF327677 EMBL AF327678 http://www.ebi.ac.uk/ena/data/view/AF327678 EMBL AF327679 http://www.ebi.ac.uk/ena/data/view/AF327679 EMBL AF327680 http://www.ebi.ac.uk/ena/data/view/AF327680 EMBL AF327681 http://www.ebi.ac.uk/ena/data/view/AF327681 EMBL AF327682 http://www.ebi.ac.uk/ena/data/view/AF327682 EMBL AF327683 http://www.ebi.ac.uk/ena/data/view/AF327683 EMBL AF327684 http://www.ebi.ac.uk/ena/data/view/AF327684 EMBL AF327685 http://www.ebi.ac.uk/ena/data/view/AF327685 EMBL AF327686 http://www.ebi.ac.uk/ena/data/view/AF327686 EMBL AF327687 http://www.ebi.ac.uk/ena/data/view/AF327687 EMBL AF327688 http://www.ebi.ac.uk/ena/data/view/AF327688 EMBL AF327689 http://www.ebi.ac.uk/ena/data/view/AF327689 EMBL AF327690 http://www.ebi.ac.uk/ena/data/view/AF327690 EMBL AF327691 http://www.ebi.ac.uk/ena/data/view/AF327691 EMBL AF327692 http://www.ebi.ac.uk/ena/data/view/AF327692 EMBL AF327693 http://www.ebi.ac.uk/ena/data/view/AF327693 EMBL AF327694 http://www.ebi.ac.uk/ena/data/view/AF327694 EMBL AF327695 http://www.ebi.ac.uk/ena/data/view/AF327695 EMBL AF327696 http://www.ebi.ac.uk/ena/data/view/AF327696 EMBL AF327697 http://www.ebi.ac.uk/ena/data/view/AF327697 EMBL AF327698 http://www.ebi.ac.uk/ena/data/view/AF327698 EMBL AF327699 http://www.ebi.ac.uk/ena/data/view/AF327699 EMBL AF327700 http://www.ebi.ac.uk/ena/data/view/AF327700 EMBL AF327701 http://www.ebi.ac.uk/ena/data/view/AF327701 EMBL AF327702 http://www.ebi.ac.uk/ena/data/view/AF327702 EMBL AF327703 http://www.ebi.ac.uk/ena/data/view/AF327703 EMBL AF327704 http://www.ebi.ac.uk/ena/data/view/AF327704 EMBL AF327705 http://www.ebi.ac.uk/ena/data/view/AF327705 EMBL AL807752 http://www.ebi.ac.uk/ena/data/view/AL807752 Ensembl ENST00000341511 http://www.ensembl.org/id/ENST00000341511 Ensembl ENST00000371605 http://www.ensembl.org/id/ENST00000371605 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005764 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005764 GO_component GO:0005765 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005765 GO_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GO_component GO:0005815 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005815 GO_component GO:0010008 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010008 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0016023 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016023 GO_component GO:0043190 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043190 GO_function GO:0000166 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000166 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GO_function GO:0042626 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042626 GO_process GO:0006357 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006357 GO_process GO:0006629 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006629 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0032383 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032383 GO_process GO:0033344 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033344 GO_process GO:0033700 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033700 GO_process GO:0042493 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042493 GO_process GO:0042632 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042632 GO_process GO:0048545 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048545 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005764 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005764 GOslim_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GOslim_component GO:0005815 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005815 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006629 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006629 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 Gene3D 3.40.50.300 http://www.cathdb.info/version/latest/superfamily/3.40.50.300 GeneCards ABCA2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ABCA2 GeneID 20 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=20 HGNC HGNC:32 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:32 HOGENOM HOG000231547 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231547&db=HOGENOM6 HOVERGEN HBG050436 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050436&db=HOVERGEN HPA HPA042886 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA042886 InParanoid Q9BZC7 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9BZC7 IntAct Q9BZC7 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9BZC7* InterPro IPR003439 http://www.ebi.ac.uk/interpro/entry/IPR003439 InterPro IPR003593 http://www.ebi.ac.uk/interpro/entry/IPR003593 InterPro IPR017871 http://www.ebi.ac.uk/interpro/entry/IPR017871 InterPro IPR026082 http://www.ebi.ac.uk/interpro/entry/IPR026082 InterPro IPR027417 http://www.ebi.ac.uk/interpro/entry/IPR027417 InterPro IPR030366 http://www.ebi.ac.uk/interpro/entry/IPR030366 Jabion 20 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=20 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Gene hsa:20 http://www.genome.jp/dbget-bin/www_bget?hsa:20 KEGG_Orthology KO:K05642 http://www.genome.jp/dbget-bin/www_bget?KO:K05642 KEGG_Pathway ko02010 http://www.genome.jp/kegg-bin/show_pathway?ko02010 KEGG_Pathway ko04142 http://www.genome.jp/kegg-bin/show_pathway?ko04142 MIM 600047 http://www.ncbi.nlm.nih.gov/omim/600047 PANTHER PTHR19229 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR19229 PANTHER PTHR19229:SF116 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR19229:SF116 PROSITE PS00211 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00211 PROSITE PS50893 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50893 PSORT swissprot:ABCA2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ABCA2_HUMAN PSORT-B swissprot:ABCA2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ABCA2_HUMAN PSORT2 swissprot:ABCA2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ABCA2_HUMAN Pfam PF00005 http://pfam.xfam.org/family/PF00005 PharmGKB PA24377 http://www.pharmgkb.org/do/serve?objId=PA24377&objCls=Gene Phobius swissprot:ABCA2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ABCA2_HUMAN PhylomeDB Q9BZC7 http://phylomedb.org/?seqid=Q9BZC7 ProteinModelPortal Q9BZC7 http://www.proteinmodelportal.org/query/uniprot/Q9BZC7 PubMed 10470851 http://www.ncbi.nlm.nih.gov/pubmed/10470851 PubMed 11178988 http://www.ncbi.nlm.nih.gov/pubmed/11178988 PubMed 11309290 http://www.ncbi.nlm.nih.gov/pubmed/11309290 PubMed 12168954 http://www.ncbi.nlm.nih.gov/pubmed/12168954 PubMed 15164053 http://www.ncbi.nlm.nih.gov/pubmed/15164053 PubMed 17081983 http://www.ncbi.nlm.nih.gov/pubmed/17081983 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 Reactome R-HSA-1369062 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1369062 RefSeq NP_001597 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001597 RefSeq NP_997698 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_997698 SMART SM00382 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00382 STRING 9606.ENSP00000344155 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000344155&targetmode=cogs SUPFAM SSF52540 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52540 TCDB 3.A.1.211 http://www.tcdb.org/search/result.php?tc=3.A.1.211 UCSC uc011mem http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc011mem&org=rat UniGene Hs.421202 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.421202 UniProtKB ABCA2_HUMAN http://www.uniprot.org/uniprot/ABCA2_HUMAN UniProtKB-AC Q9BZC7 http://www.uniprot.org/uniprot/Q9BZC7 charge swissprot:ABCA2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ABCA2_HUMAN eggNOG COG1131 http://eggnogapi.embl.de/nog_data/html/tree/COG1131 eggNOG KOG0059 http://eggnogapi.embl.de/nog_data/html/tree/KOG0059 epestfind swissprot:ABCA2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ABCA2_HUMAN garnier swissprot:ABCA2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ABCA2_HUMAN helixturnhelix swissprot:ABCA2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ABCA2_HUMAN hmoment swissprot:ABCA2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ABCA2_HUMAN iep swissprot:ABCA2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ABCA2_HUMAN inforesidue swissprot:ABCA2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ABCA2_HUMAN neXtProt NX_Q9BZC7 http://www.nextprot.org/db/entry/NX_Q9BZC7 octanol swissprot:ABCA2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ABCA2_HUMAN pepcoil swissprot:ABCA2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ABCA2_HUMAN pepdigest swissprot:ABCA2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ABCA2_HUMAN pepinfo swissprot:ABCA2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ABCA2_HUMAN pepnet swissprot:ABCA2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ABCA2_HUMAN pepstats swissprot:ABCA2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ABCA2_HUMAN pepwheel swissprot:ABCA2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ABCA2_HUMAN pepwindow swissprot:ABCA2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ABCA2_HUMAN sigcleave swissprot:ABCA2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ABCA2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS TNPO3_HUMAN Event=Alternative splicing; Named isoforms=4; Name=2; Synonyms=TRN-SR2; IsoId=Q9Y5L0-2; Sequence=Displayed; Name=1; IsoId=Q9Y5L0-1; Sequence=VSP_030174; Name=3; IsoId=Q9Y5L0-3; Sequence=VSP_011178; Note=No experimental confirmation available.; Name=4; IsoId=Q9Y5L0-5; Sequence=VSP_045494; Note=No experimental confirmation available.; # AltName TNPO3_HUMAN Importin-12 # AltName TNPO3_HUMAN Transportin-SR # BioGrid 117080 69 # CCDS CCDS55162 -. [Q9Y5L0-5] # CCDS CCDS5809 -. [Q9Y5L0-2] # ChiTaRS TNPO3 human # DISEASE TNPO3_HUMAN Limb-girdle muscular dystrophy 1F (LGMD1F) [MIM 608423] An autosomal dominant myopathy characterized by proximal muscle weakness primarily affecting the lower limbs, but also affecting the upper limbs in most patients. Affected individuals also have distal muscle weakness of the hands and lower leg muscles. The disease has generally a benign clinical course but some individuals with childhood or juvenile onset manifest severe widespread myopathy, leading to wheelchair dependency and respiratory insufficiency. Muscle biopsy shows dystrophic changes with abnormal nuclei, rimmed vacuoles, and filamentous inclusions. {ECO 0000269|PubMed 23667635}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000265388 ENSP00000265388; ENSG00000064419. [Q9Y5L0-2] # Ensembl ENST00000471234 ENSP00000418646; ENSG00000064419. [Q9Y5L0-5] # ExpressionAtlas Q9Y5L0 baseline and differential # FUNCTION TNPO3_HUMAN Seems to function in nuclear protein import as nuclear transport receptor. In vitro, mediates the nuclear import of splicing factor SR proteins RBM4, SFRS1 and SFRS2, by recognizing phosphorylated RS domains. {ECO 0000269|PubMed 10366588, ECO 0000269|PubMed 10713112, ECO 0000269|PubMed 11517331, ECO 0000269|PubMed 12628928}. # GO_component GO:0005737 cytoplasm; IBA:GO_Central. # GO_component GO:0031965 nuclear membrane; IBA:GO_Central. # GO_component GO:0043231 intracellular membrane-bounded organelle; IDA:HPA. # GO_function GO:0004872 receptor activity; TAS:ProtInc. # GO_function GO:0008139 nuclear localization sequence binding; IBA:GO_Central. # GO_function GO:0008565 protein transporter activity; IBA:GO_Central. # GO_function GO:0042802 identical protein binding; IPI:IntAct. # GO_process GO:0035048 splicing factor protein import into nucleus; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0008565 protein transporter activity # GOslim_process GO:0006913 nucleocytoplasmic transport # Gene3D 1.25.10.10 -; 3. # Genevisible Q9Y5L0 HS # HGNC HGNC:17103 TNPO3 # INTERACTION TNPO3_HUMAN Self; NbExp=3; IntAct=EBI-1042571, EBI-1042571; P04585 gag-pol (xeno); NbExp=6; IntAct=EBI-1042571, EBI-9872653; # IntAct Q9Y5L0 29 # InterPro IPR011989 ARM-like # InterPro IPR013598 Exportin-1/Importin-b-like # InterPro IPR016024 ARM-type_fold # KEGG_Brite ko03016 Transfer RNA biogenesis # MIM 608423 phenotype # MIM 610032 gene # Organism TNPO3_HUMAN Homo sapiens (Human) # Orphanet 186 Primary biliary cirrhosis # Orphanet 55595 Autosomal dominant limb-girdle muscular dystrophy type 1F # PDB 4C0O X-ray; 2.56 A; A/B=1-923 # PDB 4C0P X-ray; 2.95 A; A/B/C/D=1-923 # PDB 4C0Q X-ray; 3.42 A; A/B=1-923 # PDB 4OL0 X-ray; 2.90 A; B=3-923 # Pfam PF08389 Xpo1 # Proteomes UP000005640 Chromosome 7 # RecName TNPO3_HUMAN Transportin-3 # RefSeq NP_001177957 NM_001191028.2. [Q9Y5L0-5] # RefSeq NP_036602 NM_012470.3. [Q9Y5L0-2] # SEQUENCE CAUTION Sequence=AAD38537.1; Type=Frameshift; Positions=920; Evidence={ECO 0000305}; # SUBCELLULAR LOCATION TNPO3_HUMAN Cytoplasm {ECO 0000269|PubMed 10713112}. Nucleus {ECO 0000269|PubMed 10713112}. # SUBUNIT TNPO3_HUMAN Interacts with phosphorylated SFRS1 and SFRS2. Interacts with NUP62 and RBM4. {ECO 0000269|PubMed 10366588, ECO 0000269|PubMed 10713112, ECO 0000269|PubMed 11517331, ECO 0000269|PubMed 12628928}. # SUPFAM SSF48371 SSF48371; 3 # TISSUE SPECIFICITY Expressed in skeletal muscle. {ECO:0000269|PubMed 23667635}. # UCSC uc003vol human. [Q9Y5L0-2] # eggNOG ENOG410XRKT LUCA # eggNOG KOG2081 Eukaryota BLAST swissprot:TNPO3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:TNPO3_HUMAN BioCyc ZFISH:ENSG00000064419-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000064419-MONOMER COXPRESdb 23534 http://coxpresdb.jp/data/gene/23534.shtml CleanEx HS_TNPO3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_TNPO3 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/ac9004309 http://dx.doi.org/10.1021/ac9004309 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature01782 http://dx.doi.org/10.1038/nature01782 DOI 10.1073/pnas.181354098 http://dx.doi.org/10.1073/pnas.181354098 DOI 10.1074/jbc.275.11.7950 http://dx.doi.org/10.1074/jbc.275.11.7950 DOI 10.1083/jcb.145.6.1145 http://dx.doi.org/10.1083/jcb.145.6.1145 DOI 10.1093/emboj/cdg126 http://dx.doi.org/10.1093/emboj/cdg126 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1083423 http://dx.doi.org/10.1126/science.1083423 DOI 10.1126/scisignal.2000007 http://dx.doi.org/10.1126/scisignal.2000007 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DOI 10.1371/journal.pone.0063536 http://dx.doi.org/10.1371/journal.pone.0063536 EMBL AC018639 http://www.ebi.ac.uk/ena/data/view/AC018639 EMBL AC025594 http://www.ebi.ac.uk/ena/data/view/AC025594 EMBL AF145029 http://www.ebi.ac.uk/ena/data/view/AF145029 EMBL AJ133769 http://www.ebi.ac.uk/ena/data/view/AJ133769 EMBL AK225999 http://www.ebi.ac.uk/ena/data/view/AK225999 EMBL BC009221 http://www.ebi.ac.uk/ena/data/view/BC009221 EMBL CH236950 http://www.ebi.ac.uk/ena/data/view/CH236950 Ensembl ENST00000265388 http://www.ensembl.org/id/ENST00000265388 Ensembl ENST00000471234 http://www.ensembl.org/id/ENST00000471234 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0031965 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031965 GO_component GO:0043231 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043231 GO_function GO:0004872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004872 GO_function GO:0008139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008139 GO_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GO_function GO:0042802 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042802 GO_process GO:0035048 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035048 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_process GO:0006913 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006913 Gene3D 1.25.10.10 http://www.cathdb.info/version/latest/superfamily/1.25.10.10 GeneCards TNPO3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=TNPO3 GeneID 23534 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=23534 GeneTree ENSGT00530000063347 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000063347 HGNC HGNC:17103 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:17103 HOGENOM HOG000273876 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000273876&db=HOGENOM6 HOVERGEN HBG057505 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG057505&db=HOVERGEN HPA HPA039555 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA039555 HPA HPA041537 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA041537 InParanoid Q9Y5L0 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9Y5L0 IntAct Q9Y5L0 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9Y5L0* InterPro IPR011989 http://www.ebi.ac.uk/interpro/entry/IPR011989 InterPro IPR013598 http://www.ebi.ac.uk/interpro/entry/IPR013598 InterPro IPR016024 http://www.ebi.ac.uk/interpro/entry/IPR016024 Jabion 23534 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=23534 KEGG_Brite ko03016 http://www.genome.jp/dbget-bin/www_bget?ko03016 KEGG_Gene hsa:23534 http://www.genome.jp/dbget-bin/www_bget?hsa:23534 KEGG_Orthology KO:K15436 http://www.genome.jp/dbget-bin/www_bget?KO:K15436 MIM 608423 http://www.ncbi.nlm.nih.gov/omim/608423 MIM 610032 http://www.ncbi.nlm.nih.gov/omim/610032 MINT MINT-1194798 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1194798 Orphanet 186 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=186 Orphanet 55595 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=55595 PDB 4C0O http://www.ebi.ac.uk/pdbe-srv/view/entry/4C0O PDB 4C0P http://www.ebi.ac.uk/pdbe-srv/view/entry/4C0P PDB 4C0Q http://www.ebi.ac.uk/pdbe-srv/view/entry/4C0Q PDB 4OL0 http://www.ebi.ac.uk/pdbe-srv/view/entry/4OL0 PDBsum 4C0O http://www.ebi.ac.uk/pdbsum/4C0O PDBsum 4C0P http://www.ebi.ac.uk/pdbsum/4C0P PDBsum 4C0Q http://www.ebi.ac.uk/pdbsum/4C0Q PDBsum 4OL0 http://www.ebi.ac.uk/pdbsum/4OL0 PSORT swissprot:TNPO3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:TNPO3_HUMAN PSORT-B swissprot:TNPO3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:TNPO3_HUMAN PSORT2 swissprot:TNPO3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:TNPO3_HUMAN Pfam PF08389 http://pfam.xfam.org/family/PF08389 PharmGKB PA134888159 http://www.pharmgkb.org/do/serve?objId=PA134888159&objCls=Gene Phobius swissprot:TNPO3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:TNPO3_HUMAN PhylomeDB Q9Y5L0 http://phylomedb.org/?seqid=Q9Y5L0 ProteinModelPortal Q9Y5L0 http://www.proteinmodelportal.org/query/uniprot/Q9Y5L0 PubMed 10366588 http://www.ncbi.nlm.nih.gov/pubmed/10366588 PubMed 10713112 http://www.ncbi.nlm.nih.gov/pubmed/10713112 PubMed 11517331 http://www.ncbi.nlm.nih.gov/pubmed/11517331 PubMed 12628928 http://www.ncbi.nlm.nih.gov/pubmed/12628928 PubMed 12690205 http://www.ncbi.nlm.nih.gov/pubmed/12690205 PubMed 12853948 http://www.ncbi.nlm.nih.gov/pubmed/12853948 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 19413330 http://www.ncbi.nlm.nih.gov/pubmed/19413330 PubMed 19690332 http://www.ncbi.nlm.nih.gov/pubmed/19690332 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 23667635 http://www.ncbi.nlm.nih.gov/pubmed/23667635 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 RefSeq NP_001177957 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001177957 RefSeq NP_036602 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_036602 SMR Q9Y5L0 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9Y5L0 STRING 9606.ENSP00000265388 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000265388&targetmode=cogs SUPFAM SSF48371 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48371 UCSC uc003vol http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003vol&org=rat UniGene Hs.193613 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.193613 UniProtKB TNPO3_HUMAN http://www.uniprot.org/uniprot/TNPO3_HUMAN UniProtKB-AC Q9Y5L0 http://www.uniprot.org/uniprot/Q9Y5L0 charge swissprot:TNPO3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:TNPO3_HUMAN eggNOG ENOG410XRKT http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XRKT eggNOG KOG2081 http://eggnogapi.embl.de/nog_data/html/tree/KOG2081 epestfind swissprot:TNPO3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:TNPO3_HUMAN garnier swissprot:TNPO3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:TNPO3_HUMAN helixturnhelix swissprot:TNPO3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:TNPO3_HUMAN hmoment swissprot:TNPO3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:TNPO3_HUMAN iep swissprot:TNPO3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:TNPO3_HUMAN inforesidue swissprot:TNPO3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:TNPO3_HUMAN neXtProt NX_Q9Y5L0 http://www.nextprot.org/db/entry/NX_Q9Y5L0 octanol swissprot:TNPO3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:TNPO3_HUMAN pepcoil swissprot:TNPO3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:TNPO3_HUMAN pepdigest swissprot:TNPO3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:TNPO3_HUMAN pepinfo swissprot:TNPO3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:TNPO3_HUMAN pepnet swissprot:TNPO3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:TNPO3_HUMAN pepstats swissprot:TNPO3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:TNPO3_HUMAN pepwheel swissprot:TNPO3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:TNPO3_HUMAN pepwindow swissprot:TNPO3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:TNPO3_HUMAN sigcleave swissprot:TNPO3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:TNPO3_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS SVOPL_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8N434-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q8N434-2; Sequence=VSP_026651, VSP_026652; Note=No experimental confirmation available.; # AltName SVOPL_HUMAN SV2-related protein-like # AltName SVOPL_HUMAN SVOP-like protein # CCDS CCDS47721 -. [Q8N434-1] # CCDS CCDS5848 -. [Q8N434-2] # CDD cd06174 MFS # Ensembl ENST00000288513 ENSP00000288513; ENSG00000157703. [Q8N434-2] # Ensembl ENST00000419765 ENSP00000405482; ENSG00000157703. [Q8N434-1] # Ensembl ENST00000436657 ENSP00000417018; ENSG00000157703. [Q8N434-2] # ExpressionAtlas Q8N434 baseline and differential # GO_component GO:0016021 integral component of membrane; IBA:GO_Central. # GO_function GO:0022891 substrate-specific transmembrane transporter activity; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # Genevisible Q8N434 HS # HGNC HGNC:27034 SVOPL # InterPro IPR005828 MFS_sugar_transport-like # InterPro IPR011701 MFS # InterPro IPR020846 MFS_dom # MIM 611700 gene # Organism SVOPL_HUMAN Homo sapiens (Human) # PROSITE PS50850 MFS # Pfam PF00083 Sugar_tr # Pfam PF07690 MFS_1 # Proteomes UP000005640 Chromosome 7 # RecName SVOPL_HUMAN Putative transporter SVOPL # RefSeq NP_001132928 NM_001139456.1. [Q8N434-1] # RefSeq NP_777619 NM_174959.3. [Q8N434-2] # RefSeq XP_005250200 XM_005250143.3. [Q8N434-1] # RefSeq XP_011514099 XM_011515797.2. [Q8N434-2] # RefSeq XP_016867236 XM_017011747.1. [Q8N434-2] # RefSeq XP_016867237 XM_017011748.1. [Q8N434-2] # SIMILARITY Belongs to the major facilitator superfamily. {ECO 0000305}. # SUBCELLULAR LOCATION SVOPL_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # SUPFAM SSF103473 SSF103473 # UCSC uc003vue human. [Q8N434-1] # eggNOG ENOG410ZVDQ LUCA # eggNOG KOG0253 Eukaryota BLAST swissprot:SVOPL_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SVOPL_HUMAN BioCyc ZFISH:ENSG00000157703-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000157703-MONOMER COXPRESdb 136306 http://coxpresdb.jp/data/gene/136306.shtml CleanEx HS_SVOPL http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SVOPL DOI 10.1016/j.ygeno.2007.03.017 http://dx.doi.org/10.1016/j.ygeno.2007.03.017 DOI 10.1038/nature01782 http://dx.doi.org/10.1038/nature01782 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AC013429 http://www.ebi.ac.uk/ena/data/view/AC013429 EMBL AC020983 http://www.ebi.ac.uk/ena/data/view/AC020983 EMBL BC036796 http://www.ebi.ac.uk/ena/data/view/BC036796 Ensembl ENST00000288513 http://www.ensembl.org/id/ENST00000288513 Ensembl ENST00000419765 http://www.ensembl.org/id/ENST00000419765 Ensembl ENST00000436657 http://www.ensembl.org/id/ENST00000436657 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0022891 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022891 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GeneCards SVOPL http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SVOPL GeneID 136306 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=136306 GeneTree ENSGT00550000074384 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074384 HGNC HGNC:27034 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:27034 HOGENOM HOG000114543 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000114543&db=HOGENOM6 HOVERGEN HBG108527 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG108527&db=HOVERGEN HPA HPA018035 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA018035 InParanoid Q8N434 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8N434 IntAct Q8N434 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q8N434* InterPro IPR005828 http://www.ebi.ac.uk/interpro/entry/IPR005828 InterPro IPR011701 http://www.ebi.ac.uk/interpro/entry/IPR011701 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 136306 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=136306 KEGG_Gene hsa:136306 http://www.genome.jp/dbget-bin/www_bget?hsa:136306 MIM 611700 http://www.ncbi.nlm.nih.gov/omim/611700 OMA ESHSPCH http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=ESHSPCH OrthoDB EOG091G04VD http://cegg.unige.ch/orthodb/results?searchtext=EOG091G04VD PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PSORT swissprot:SVOPL_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SVOPL_HUMAN PSORT-B swissprot:SVOPL_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SVOPL_HUMAN PSORT2 swissprot:SVOPL_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SVOPL_HUMAN Pfam PF00083 http://pfam.xfam.org/family/PF00083 Pfam PF07690 http://pfam.xfam.org/family/PF07690 PharmGKB PA162405089 http://www.pharmgkb.org/do/serve?objId=PA162405089&objCls=Gene Phobius swissprot:SVOPL_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SVOPL_HUMAN PhylomeDB Q8N434 http://phylomedb.org/?seqid=Q8N434 ProteinModelPortal Q8N434 http://www.proteinmodelportal.org/query/uniprot/Q8N434 PubMed 12853948 http://www.ncbi.nlm.nih.gov/pubmed/12853948 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 17714910 http://www.ncbi.nlm.nih.gov/pubmed/17714910 RefSeq NP_001132928 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001132928 RefSeq NP_777619 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_777619 RefSeq XP_005250200 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005250200 RefSeq XP_011514099 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011514099 RefSeq XP_016867236 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016867236 RefSeq XP_016867237 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016867237 STRING 9606.ENSP00000405482 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000405482&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 UCSC uc003vue http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003vue&org=rat UniGene Hs.99414 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.99414 UniProtKB SVOPL_HUMAN http://www.uniprot.org/uniprot/SVOPL_HUMAN UniProtKB-AC Q8N434 http://www.uniprot.org/uniprot/Q8N434 charge swissprot:SVOPL_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SVOPL_HUMAN eggNOG ENOG410ZVDQ http://eggnogapi.embl.de/nog_data/html/tree/ENOG410ZVDQ eggNOG KOG0253 http://eggnogapi.embl.de/nog_data/html/tree/KOG0253 epestfind swissprot:SVOPL_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SVOPL_HUMAN garnier swissprot:SVOPL_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SVOPL_HUMAN helixturnhelix swissprot:SVOPL_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SVOPL_HUMAN hmoment swissprot:SVOPL_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SVOPL_HUMAN iep swissprot:SVOPL_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SVOPL_HUMAN inforesidue swissprot:SVOPL_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SVOPL_HUMAN neXtProt NX_Q8N434 http://www.nextprot.org/db/entry/NX_Q8N434 octanol swissprot:SVOPL_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SVOPL_HUMAN pepcoil swissprot:SVOPL_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SVOPL_HUMAN pepdigest swissprot:SVOPL_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SVOPL_HUMAN pepinfo swissprot:SVOPL_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SVOPL_HUMAN pepnet swissprot:SVOPL_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SVOPL_HUMAN pepstats swissprot:SVOPL_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SVOPL_HUMAN pepwheel swissprot:SVOPL_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SVOPL_HUMAN pepwindow swissprot:SVOPL_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SVOPL_HUMAN sigcleave swissprot:SVOPL_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SVOPL_HUMAN ## Database ID URL or Descriptions # AltName KCNJ2_HUMAN Cardiac inward rectifier potassium channel # AltName KCNJ2_HUMAN Inward rectifier K(+) channel Kir2.1 # AltName KCNJ2_HUMAN Potassium channel, inwardly rectifying subfamily J member 2 # BioGrid 109961 3 # DISEASE KCNJ2_HUMAN Atrial fibrillation, familial, 9 (ATFB9) [MIM 613980] A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. {ECO 0000269|PubMed 15922306}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE KCNJ2_HUMAN Long QT syndrome 7 (LQT7) [MIM 170390] A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. Long QT syndrome type 7 manifests itself as a clinical triad consisting of potassium-sensitive periodic paralysis, ventricular ectopy and dysmorphic features. {ECO 0000269|PubMed 11371347, ECO 0000269|PubMed 12148092, ECO 0000269|PubMed 12163457, ECO 0000269|PubMed 16571646, ECO 0000269|PubMed 17324964}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE KCNJ2_HUMAN Short QT syndrome 3 (SQT3) [MIM 609622] A heart disorder characterized by idiopathic persistently and uniformly short QT interval on ECG in the absence of structural heart disease in affected individuals. It causes syncope and sudden death. SQT3 has a unique ECG phenotype characterized by asymmetrical T waves. {ECO 0000269|PubMed 15761194}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000243457 ENSP00000243457; ENSG00000123700 # Ensembl ENST00000535240 ENSP00000441848; ENSG00000123700 # FUNCTION KCNJ2_HUMAN Probably participates in establishing action potential waveform and excitability of neuronal and muscle tissues. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by extracellular barium or cesium. # GO_component GO:0005790 smooth endoplasmic reticulum; IEA:Ensembl. # GO_component GO:0005791 rough endoplasmic reticulum; IEA:Ensembl. # GO_component GO:0005794 Golgi apparatus; IEA:Ensembl. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0008076 voltage-gated potassium channel complex; IDA:BHF-UCL. # GO_component GO:0014704 intercalated disc; IEA:Ensembl. # GO_component GO:0030315 T-tubule; IEA:Ensembl. # GO_component GO:0031224 intrinsic component of membrane; IDA:UniProtKB. # GO_component GO:0043025 neuronal cell body; IEA:Ensembl. # GO_component GO:0043197 dendritic spine; IEA:Ensembl. # GO_function GO:0005242 inward rectifier potassium channel activity; IDA:UniProtKB. # GO_function GO:0005546 phosphatidylinositol-4,5-bisphosphate binding; IDA:BHF-UCL. # GO_function GO:0015467 G-protein activated inward rectifier potassium channel activity; TAS:Reactome. # GO_function GO:0086008 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization; IMP:BHF-UCL. # GO_process GO:0006813 potassium ion transport; IDA:UniProtKB. # GO_process GO:0010107 potassium ion import; IDA:BHF-UCL. # GO_process GO:0014861 regulation of skeletal muscle contraction via regulation of action potential; IMP:BHF-UCL. # GO_process GO:0015693 magnesium ion transport; IEA:Ensembl. # GO_process GO:0030007 cellular potassium ion homeostasis; TAS:BHF-UCL. # GO_process GO:0051289 protein homotetramerization; IDA:UniProtKB. # GO_process GO:0055119 relaxation of cardiac muscle; IMP:BHF-UCL. # GO_process GO:0060075 regulation of resting membrane potential; TAS:BHF-UCL. # GO_process GO:0060306 regulation of membrane repolarization; IDA:BHF-UCL. # GO_process GO:0061337 cardiac conduction; TAS:Reactome. # GO_process GO:0071260 cellular response to mechanical stimulus; IEA:Ensembl. # GO_process GO:0071805 potassium ion transmembrane transport; IDA:BHF-UCL. # GO_process GO:0086002 cardiac muscle cell action potential involved in contraction; IMP:BHF-UCL. # GO_process GO:0086004 regulation of cardiac muscle cell contraction; IEA:Ensembl. # GO_process GO:0086011 membrane repolarization during action potential; IMP:BHF-UCL. # GO_process GO:0086012 membrane depolarization during cardiac muscle cell action potential; TAS:BHF-UCL. # GO_process GO:0086013 membrane repolarization during cardiac muscle cell action potential; IMP:BHF-UCL. # GO_process GO:0086091 regulation of heart rate by cardiac conduction; IMP:BHF-UCL. # GO_process GO:0090076 relaxation of skeletal muscle; IMP:BHF-UCL. # GO_process GO:1901381 positive regulation of potassium ion transmembrane transport; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_component GO:0005794 Golgi apparatus # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0008289 lipid binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 2.60.40.1400 -; 1. # Genevisible P63252 HS # HGNC HGNC:6263 KCNJ2 # IntAct P63252 5 # InterPro IPR003271 K_chnl_inward-rec_Kir2.1 # InterPro IPR013518 K_chnl_inward-rec_Kir_cyto # InterPro IPR013673 K_chnl_inward-rec_Kir_N # InterPro IPR014756 Ig_E-set # InterPro IPR016449 K_chnl_inward-rec_Kir # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00215:[Inherited metabolic disease; Nervous system disease; Muscular disease] Andersen-Tawil syndrome (ATS) [DS H00748] # KEGG_Disease H00720 [Cardiovascular disease] Jervell and Lange-Nielsen syndrome (JLNS) # KEGG_Disease H00725 [Cardiovascular disease] Short QT syndrome # KEGG_Disease H00731 [Cardiovascular disease] Atrial fibrillation # KEGG_Disease H00748 [Musculoskeletal disease; Nervous system disease; Inherited metabolic disease] Andersen-Tawil syndrome (ATS) # KEGG_Pathway ko04725 Cholinergic synapse # KEGG_Pathway ko04971 Gastric acid secretion # MIM 170390 phenotype # MIM 600681 gene # MIM 609622 phenotype # MIM 613980 phenotype # Organism KCNJ2_HUMAN Homo sapiens (Human) # Orphanet 334 Familial atrial fibrillation # Orphanet 37553 Cardiodysrhythmic potassium-sensitive periodic paralysis # Orphanet 51083 Familial short QT syndrome # PANTHER PTHR11767 PTHR11767 # PIR I38727 I38727 # PIRSF PIRSF005465 GIRK_kir # PRINTS PR01320 KIRCHANNEL # PRINTS PR01324 KIR21CHANNEL # PTM KCNJ2_HUMAN S-nitrosylation increases the open probability and inward rectifying currents. {ECO 0000269|PubMed 19608980}. # Pfam PF01007 IRK # Pfam PF08466 IRK_N # Proteomes UP000005640 Chromosome 17 # Reactome R-HSA-1296041 Activation of G protein gated Potassium channels # Reactome R-HSA-1296053 Classical Kir channels # Reactome R-HSA-5576886 Phase 4 - resting membrane potential # Reactome R-HSA-997272 Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits # RecName KCNJ2_HUMAN Inward rectifier potassium channel 2 # RefSeq NP_000882 NM_000891.2 # SIMILARITY Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ2 subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION KCNJ2_HUMAN Membrane; Multi-pass membrane protein. Membrane; Lipid-anchor {ECO 0000269|PubMed 25043870}. # SUBUNIT Homomultimeric and heteromultimeric association with KCNJ4/Kir2.3. Association, via its PDZ-recognition domain, with LIN7A, LIN7B, LIN7C, DLG1, CASK and APBA1 plays a key role in its localization and trafficking (By similarity). {ECO 0000250}. # SUPFAM SSF81296 SSF81296 # TCDB 1.A.2.1 inward rectifier k(+) channel (irk-c) family # TISSUE SPECIFICITY KCNJ2_HUMAN Heart, brain, placenta, lung, skeletal muscle, and kidney. Diffusely distributed throughout the brain. # UCSC uc002jir human # eggNOG ENOG410XQ62 LUCA # eggNOG KOG3827 Eukaryota BLAST swissprot:KCNJ2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCNJ2_HUMAN BioCyc ZFISH:ENSG00000123700-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000123700-MONOMER COXPRESdb 3759 http://coxpresdb.jp/data/gene/3759.shtml CleanEx HS_KCNJ2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNJ2 DOI 10.1016/0378-1119(95)00244-Z http://dx.doi.org/10.1016/0378-1119(95)00244-Z DOI 10.1016/S0014-5793(01)02202-5 http://dx.doi.org/10.1016/S0014-5793(01)02202-5 DOI 10.1016/S0092-8674(01)00342-7 http://dx.doi.org/10.1016/S0092-8674(01)00342-7 DOI 10.1016/j.ab.2014.07.006 http://dx.doi.org/10.1016/j.ab.2014.07.006 DOI 10.1016/j.bbrc.2005.05.054 http://dx.doi.org/10.1016/j.bbrc.2005.05.054 DOI 10.1073/pnas.102609499 http://dx.doi.org/10.1073/pnas.102609499 DOI 10.1086/342360 http://dx.doi.org/10.1086/342360 DOI 10.1093/hmg/ddm034 http://dx.doi.org/10.1093/hmg/ddm034 DOI 10.1111/j.1469-7793.1998.303bw.x http://dx.doi.org/10.1111/j.1469-7793.1998.303bw.x DOI 10.1136/jmg.2006.040816 http://dx.doi.org/10.1136/jmg.2006.040816 DOI 10.1161/01.RES.0000162101.76263.8c http://dx.doi.org/10.1161/01.RES.0000162101.76263.8c DOI 10.1161/CIRCRESAHA.109.197558 http://dx.doi.org/10.1161/CIRCRESAHA.109.197558 DOI 10.1172/JCI15183 http://dx.doi.org/10.1172/JCI15183 EMBL AF011904 http://www.ebi.ac.uk/ena/data/view/AF011904 EMBL AF021139 http://www.ebi.ac.uk/ena/data/view/AF021139 EMBL AF153819 http://www.ebi.ac.uk/ena/data/view/AF153819 EMBL AF153820 http://www.ebi.ac.uk/ena/data/view/AF153820 EMBL U12507 http://www.ebi.ac.uk/ena/data/view/U12507 EMBL U16861 http://www.ebi.ac.uk/ena/data/view/U16861 EMBL U22413 http://www.ebi.ac.uk/ena/data/view/U22413 EMBL U24055 http://www.ebi.ac.uk/ena/data/view/U24055 Ensembl ENST00000243457 http://www.ensembl.org/id/ENST00000243457 Ensembl ENST00000535240 http://www.ensembl.org/id/ENST00000535240 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005790 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005790 GO_component GO:0005791 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005791 GO_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0008076 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008076 GO_component GO:0014704 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014704 GO_component GO:0030315 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030315 GO_component GO:0031224 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031224 GO_component GO:0043025 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043025 GO_component GO:0043197 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043197 GO_function GO:0005242 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005242 GO_function GO:0005546 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005546 GO_function GO:0015467 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015467 GO_function GO:0086008 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086008 GO_process GO:0006813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006813 GO_process GO:0010107 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010107 GO_process GO:0014861 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014861 GO_process GO:0015693 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015693 GO_process GO:0030007 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030007 GO_process GO:0051289 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051289 GO_process GO:0055119 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055119 GO_process GO:0060075 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060075 GO_process GO:0060306 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060306 GO_process GO:0061337 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061337 GO_process GO:0071260 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071260 GO_process GO:0071805 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071805 GO_process GO:0086002 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086002 GO_process GO:0086004 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086004 GO_process GO:0086011 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086011 GO_process GO:0086012 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086012 GO_process GO:0086013 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086013 GO_process GO:0086091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086091 GO_process GO:0090076 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090076 GO_process GO:1901381 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1901381 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0008289 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008289 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 2.60.40.1400 http://www.cathdb.info/version/latest/superfamily/2.60.40.1400 GeneCards KCNJ2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNJ2 GeneID 3759 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=3759 GeneTree ENSGT00760000118842 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118842 HGNC HGNC:6263 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6263 HOGENOM HOG000237325 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000237325&db=HOGENOM6 HOVERGEN HBG006178 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG006178&db=HOVERGEN HPA HPA029109 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA029109 InParanoid P63252 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P63252 IntAct P63252 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P63252* InterPro IPR003271 http://www.ebi.ac.uk/interpro/entry/IPR003271 InterPro IPR013518 http://www.ebi.ac.uk/interpro/entry/IPR013518 InterPro IPR013673 http://www.ebi.ac.uk/interpro/entry/IPR013673 InterPro IPR014756 http://www.ebi.ac.uk/interpro/entry/IPR014756 InterPro IPR016449 http://www.ebi.ac.uk/interpro/entry/IPR016449 Jabion 3759 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=3759 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00215 http://www.genome.jp/dbget-bin/www_bget?H00215 KEGG_Disease H00720 http://www.genome.jp/dbget-bin/www_bget?H00720 KEGG_Disease H00725 http://www.genome.jp/dbget-bin/www_bget?H00725 KEGG_Disease H00731 http://www.genome.jp/dbget-bin/www_bget?H00731 KEGG_Disease H00748 http://www.genome.jp/dbget-bin/www_bget?H00748 KEGG_Gene hsa:3759 http://www.genome.jp/dbget-bin/www_bget?hsa:3759 KEGG_Orthology KO:K04996 http://www.genome.jp/dbget-bin/www_bget?KO:K04996 KEGG_Pathway ko04725 http://www.genome.jp/kegg-bin/show_pathway?ko04725 KEGG_Pathway ko04971 http://www.genome.jp/kegg-bin/show_pathway?ko04971 MIM 170390 http://www.ncbi.nlm.nih.gov/omim/170390 MIM 600681 http://www.ncbi.nlm.nih.gov/omim/600681 MIM 609622 http://www.ncbi.nlm.nih.gov/omim/609622 MIM 613980 http://www.ncbi.nlm.nih.gov/omim/613980 OMA HNATVAM http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=HNATVAM Orphanet 334 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=334 Orphanet 37553 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=37553 Orphanet 51083 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=51083 OrthoDB EOG091G08HC http://cegg.unige.ch/orthodb/results?searchtext=EOG091G08HC PANTHER PTHR11767 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11767 PRINTS PR01320 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01320 PRINTS PR01324 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01324 PSORT swissprot:KCNJ2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCNJ2_HUMAN PSORT-B swissprot:KCNJ2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCNJ2_HUMAN PSORT2 swissprot:KCNJ2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCNJ2_HUMAN Pfam PF01007 http://pfam.xfam.org/family/PF01007 Pfam PF08466 http://pfam.xfam.org/family/PF08466 PharmGKB PA214 http://www.pharmgkb.org/do/serve?objId=PA214&objCls=Gene Phobius swissprot:KCNJ2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCNJ2_HUMAN PhylomeDB P63252 http://phylomedb.org/?seqid=P63252 ProteinModelPortal P63252 http://www.proteinmodelportal.org/query/uniprot/P63252 PubMed 11240146 http://www.ncbi.nlm.nih.gov/pubmed/11240146 PubMed 11371347 http://www.ncbi.nlm.nih.gov/pubmed/11371347 PubMed 12032359 http://www.ncbi.nlm.nih.gov/pubmed/12032359 PubMed 12148092 http://www.ncbi.nlm.nih.gov/pubmed/12148092 PubMed 12163457 http://www.ncbi.nlm.nih.gov/pubmed/12163457 PubMed 15761194 http://www.ncbi.nlm.nih.gov/pubmed/15761194 PubMed 15922306 http://www.ncbi.nlm.nih.gov/pubmed/15922306 PubMed 16571646 http://www.ncbi.nlm.nih.gov/pubmed/16571646 PubMed 17324964 http://www.ncbi.nlm.nih.gov/pubmed/17324964 PubMed 19608980 http://www.ncbi.nlm.nih.gov/pubmed/19608980 PubMed 25043870 http://www.ncbi.nlm.nih.gov/pubmed/25043870 PubMed 7590287 http://www.ncbi.nlm.nih.gov/pubmed/7590287 PubMed 7696590 http://www.ncbi.nlm.nih.gov/pubmed/7696590 PubMed 7840300 http://www.ncbi.nlm.nih.gov/pubmed/7840300 PubMed 9490857 http://www.ncbi.nlm.nih.gov/pubmed/9490857 Reactome R-HSA-1296041 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1296041 Reactome R-HSA-1296053 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1296053 Reactome R-HSA-5576886 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576886 Reactome R-HSA-997272 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-997272 RefSeq NP_000882 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000882 SMR P63252 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P63252 STRING 9606.ENSP00000243457 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000243457&targetmode=cogs SUPFAM SSF81296 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81296 TCDB 1.A.2.1 http://www.tcdb.org/search/result.php?tc=1.A.2.1 UCSC uc002jir http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002jir&org=rat UniGene Hs.1547 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.1547 UniProtKB KCNJ2_HUMAN http://www.uniprot.org/uniprot/KCNJ2_HUMAN UniProtKB-AC P63252 http://www.uniprot.org/uniprot/P63252 charge swissprot:KCNJ2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCNJ2_HUMAN eggNOG ENOG410XQ62 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XQ62 eggNOG KOG3827 http://eggnogapi.embl.de/nog_data/html/tree/KOG3827 epestfind swissprot:KCNJ2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCNJ2_HUMAN garnier swissprot:KCNJ2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCNJ2_HUMAN helixturnhelix swissprot:KCNJ2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCNJ2_HUMAN hmoment swissprot:KCNJ2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCNJ2_HUMAN iep swissprot:KCNJ2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCNJ2_HUMAN inforesidue swissprot:KCNJ2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCNJ2_HUMAN neXtProt NX_P63252 http://www.nextprot.org/db/entry/NX_P63252 octanol swissprot:KCNJ2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCNJ2_HUMAN pepcoil swissprot:KCNJ2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCNJ2_HUMAN pepdigest swissprot:KCNJ2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCNJ2_HUMAN pepinfo swissprot:KCNJ2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCNJ2_HUMAN pepnet swissprot:KCNJ2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCNJ2_HUMAN pepstats swissprot:KCNJ2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCNJ2_HUMAN pepwheel swissprot:KCNJ2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCNJ2_HUMAN pepwindow swissprot:KCNJ2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCNJ2_HUMAN sigcleave swissprot:KCNJ2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCNJ2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS PSN1_HUMAN Event=Alternative splicing; Named isoforms=7; Name=1; Synonyms=I-467; IsoId=P49768-1; Sequence=Displayed; Name=2; Synonyms=I-463; IsoId=P49768-2; Sequence=VSP_005191; Name=3; Synonyms=I-374; IsoId=P49768-3; Sequence=VSP_005191, VSP_005192; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=4; Synonyms=Minilin; IsoId=P49768-4; Sequence=VSP_007986, VSP_007987; Name=5; IsoId=P49768-5; Sequence=VSP_005192; Name=6; IsoId=P49768-6; Sequence=VSP_012288; Name=7; IsoId=P49768-7; Sequence=VSP_041440; # AltName PSN1_HUMAN Protein S182 # AltName PSN1_HUMAN Protein S182 # BioGrid 111642 85 # CCDS CCDS9812 -. [P49768-1] # CCDS CCDS9813 -. [P49768-2] # ChiTaRS PSEN1 human # DISEASE PSN1_HUMAN Acne inversa, familial, 3 (ACNINV3) [MIM 613737] A chronic relapsing inflammatory disease of the hair follicles characterized by recurrent draining sinuses, painful skin abscesses, and disfiguring scars. Manifestations typically appear after puberty. {ECO 0000269|PubMed 20929727}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE PSN1_HUMAN Alzheimer disease 3 (AD3) [MIM 607822] A familial early- onset form of Alzheimer disease. Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituent of these plaques is the neurotoxic amyloid-beta-APP 40-42 peptide (s), derived proteolytically from the transmembrane precursor protein APP by sequential secretase processing. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products such as C31 derived from APP, are also implicated in neuronal death. {ECO 0000269|PubMed 10025789, ECO 0000269|PubMed 10090481, ECO 0000269|PubMed 10200054, ECO 0000269|PubMed 10208579, ECO 0000269|PubMed 10439444, ECO 0000269|PubMed 10441572, ECO 0000269|PubMed 10447269, ECO 0000269|PubMed 10533070, ECO 0000269|PubMed 10631141, ECO 0000269|PubMed 10644793, ECO 0000269|PubMed 11027672, ECO 0000269|PubMed 11524469, ECO 0000269|PubMed 11710891, ECO 0000269|PubMed 11920851, ECO 0000269|PubMed 12048239, ECO 0000269|PubMed 12484344, ECO 0000269|PubMed 12493737, ECO 0000269|PubMed 20460383, ECO 0000269|PubMed 22503161, ECO 0000269|PubMed 26145164, ECO 0000269|PubMed 26549787, ECO 0000269|PubMed 7550356, ECO 0000269|PubMed 7596406, ECO 0000269|PubMed 7651536, ECO 0000269|PubMed 8634711, ECO 0000269|PubMed 8634712, ECO 0000269|PubMed 8733303, ECO 0000269|PubMed 9172170, ECO 0000269|PubMed 9225696, ECO 0000269|PubMed 9298817, ECO 0000269|PubMed 9384602, ECO 0000269|PubMed 9507958, ECO 0000269|PubMed 9521423, ECO 0000269|PubMed 9719376, ECO 0000269|PubMed 9831473, ECO 0000269|PubMed 9833068, ECO 0000269|Ref.79}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE PSN1_HUMAN Cardiomyopathy, dilated 1U (CMD1U) [MIM 613694] A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO 0000269|PubMed 17186461}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE PSN1_HUMAN Frontotemporal dementia (FTD) [MIM 600274] A form of dementia characterized by pathologic finding of frontotemporal lobar degeneration, presenile dementia with behavioral changes, deterioration of cognitive capacities and loss of memory. In some cases, parkinsonian symptoms are prominent. Neuropathological changes include frontotemporal atrophy often associated with atrophy of the basal ganglia, substantia nigra, amygdala. In most cases, protein tau deposits are found in glial cells and/or neurons. {ECO 0000269|PubMed 11094121}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DOMAIN PSN1_HUMAN The PAL motif is required for normal active site conformation. # Ensembl ENST00000324501 ENSP00000326366; ENSG00000080815. [P49768-1] # Ensembl ENST00000357710 ENSP00000350342; ENSG00000080815. [P49768-2] # Ensembl ENST00000394157 ENSP00000377712; ENSG00000080815. [P49768-4] # Ensembl ENST00000394164 ENSP00000377719; ENSG00000080815. [P49768-2] # Ensembl ENST00000553855 ENSP00000452242; ENSG00000080815. [P49768-5] # Ensembl ENST00000555386 ENSP00000450845; ENSG00000080815. [P49768-3] # Ensembl ENST00000557511 ENSP00000451429; ENSG00000080815. [P49768-6] # ExpressionAtlas P49768 baseline and differential # FUNCTION PSN1_HUMAN Probable catalytic subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (beta-amyloid precursor protein). Requires the other members of the gamma-secretase complex to have a protease activity. May play a role in intracellular signaling and gene expression or in linking chromatin to the nuclear membrane. Stimulates cell-cell adhesion though its association with the E-cadherin/catenin complex. Under conditions of apoptosis or calcium influx, cleaves E-cadherin promoting the disassembly of the E-cadherin/catenin complex and increasing the pool of cytoplasmic beta-catenin, thus negatively regulating Wnt signaling. May also play a role in hematopoiesis. {ECO 0000269|PubMed 10206644, ECO 0000269|PubMed 10545183, ECO 0000269|PubMed 10593990, ECO 0000269|PubMed 10811883, ECO 0000269|PubMed 10899933, ECO 0000269|PubMed 11226248, ECO 0000269|PubMed 15341515, ECO 0000269|PubMed 16305624}. # GO_component GO:0000139 Golgi membrane; IEA:UniProtKB-SubCell. # GO_component GO:0000776 kinetochore; IDA:UniProtKB. # GO_component GO:0005634 nucleus; IDA:HPA. # GO_component GO:0005640 nuclear outer membrane; IDA:MGI. # GO_component GO:0005739 mitochondrion; IDA:UniProtKB. # GO_component GO:0005743 mitochondrial inner membrane; IEA:Ensembl. # GO_component GO:0005765 lysosomal membrane; IEA:Ensembl. # GO_component GO:0005783 endoplasmic reticulum; IDA:HGNC. # GO_component GO:0005789 endoplasmic reticulum membrane; IEA:UniProtKB-SubCell. # GO_component GO:0005790 smooth endoplasmic reticulum; IDA:UniProtKB. # GO_component GO:0005791 rough endoplasmic reticulum; IDA:UniProtKB. # GO_component GO:0005794 Golgi apparatus; IDA:UniProtKB. # GO_component GO:0005813 centrosome; IDA:UniProtKB. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0005887 integral component of plasma membrane; IDA:HGNC. # GO_component GO:0009986 cell surface; IEA:UniProtKB-SubCell. # GO_component GO:0016020 membrane; IDA:MGI. # GO_component GO:0016021 integral component of membrane; TAS:UniProtKB. # GO_component GO:0016235 aggresome; IDA:UniProtKB. # GO_component GO:0030054 cell junction; IDA:HPA. # GO_component GO:0030424 axon; IEA:Ensembl. # GO_component GO:0030426 growth cone; IEA:Ensembl. # GO_component GO:0031410 cytoplasmic vesicle; IEA:Ensembl. # GO_component GO:0031594 neuromuscular junction; IEA:Ensembl. # GO_component GO:0031965 nuclear membrane; IDA:UniProtKB. # GO_component GO:0035253 ciliary rootlet; IEA:Ensembl. # GO_component GO:0043025 neuronal cell body; IEA:Ensembl. # GO_component GO:0043198 dendritic shaft; IEA:Ensembl. # GO_component GO:0045121 membrane raft; IDA:UniProtKB. # GO_component GO:0070765 gamma-secretase complex; IDA:UniProtKB. # GO_component GO:0098793 presynapse; IEA:GOC. # GO_function GO:0004175 endopeptidase activity; IDA:MGI. # GO_function GO:0004190 aspartic-type endopeptidase activity; IEA:InterPro. # GO_function GO:0005262 calcium channel activity; IMP:UniProtKB. # GO_function GO:0008013 beta-catenin binding; IPI:UniProtKB. # GO_function GO:0030165 PDZ domain binding; IPI:UniProtKB. # GO_function GO:0045296 cadherin binding; IBA:GO_Central. # GO_process GO:0000045 autophagosome assembly; IEA:Ensembl. # GO_process GO:0000122 negative regulation of transcription from RNA polymerase II promoter; IEA:Ensembl. # GO_process GO:0000186 activation of MAPKK activity; IEA:Ensembl. # GO_process GO:0001568 blood vessel development; IEA:Ensembl. # GO_process GO:0001708 cell fate specification; IEA:Ensembl. # GO_process GO:0001756 somitogenesis; IEA:Ensembl. # GO_process GO:0001764 neuron migration; IEA:Ensembl. # GO_process GO:0001921 positive regulation of receptor recycling; IEA:Ensembl. # GO_process GO:0001947 heart looping; IEA:Ensembl. # GO_process GO:0002244 hematopoietic progenitor cell differentiation; IEA:Ensembl. # GO_process GO:0002286 T cell activation involved in immune response; IEA:Ensembl. # GO_process GO:0003407 neural retina development; IEA:Ensembl. # GO_process GO:0006486 protein glycosylation; IEA:Ensembl. # GO_process GO:0006509 membrane protein ectodomain proteolysis; IDA:HGNC. # GO_process GO:0006839 mitochondrial transport; IEA:Ensembl. # GO_process GO:0006974 cellular response to DNA damage stimulus; IEA:Ensembl. # GO_process GO:0006979 response to oxidative stress; IEA:Ensembl. # GO_process GO:0007175 negative regulation of epidermal growth factor-activated receptor activity; IEA:Ensembl. # GO_process GO:0007219 Notch signaling pathway; IEA:UniProtKB-KW. # GO_process GO:0007220 Notch receptor processing; TAS:HGNC. # GO_process GO:0007613 memory; IEA:Ensembl. # GO_process GO:0009791 post-embryonic development; IEA:Ensembl. # GO_process GO:0015031 protein transport; IEA:Ensembl. # GO_process GO:0015813 L-glutamate transport; IEA:Ensembl. # GO_process GO:0015871 choline transport; IEA:Ensembl. # GO_process GO:0016080 synaptic vesicle targeting; IEA:Ensembl. # GO_process GO:0016337 single organismal cell-cell adhesion; IMP:MGI. # GO_process GO:0016485 protein processing; IDA:HGNC. # GO_process GO:0021795 cerebral cortex cell migration; IEA:Ensembl. # GO_process GO:0021870 Cajal-Retzius cell differentiation; IEA:Ensembl. # GO_process GO:0021904 dorsal/ventral neural tube patterning; IEA:Ensembl. # GO_process GO:0030326 embryonic limb morphogenesis; IEA:Ensembl. # GO_process GO:0032436 positive regulation of proteasomal ubiquitin-dependent protein catabolic process; IEA:Ensembl. # GO_process GO:0032469 endoplasmic reticulum calcium ion homeostasis; IGI:UniProtKB. # GO_process GO:0034205 beta-amyloid formation; IEA:Ensembl. # GO_process GO:0035556 intracellular signal transduction; IEA:InterPro. # GO_process GO:0042325 regulation of phosphorylation; IDA:UniProtKB. # GO_process GO:0042987 amyloid precursor protein catabolic process; TAS:HGNC. # GO_process GO:0043011 myeloid dendritic cell differentiation; IEA:Ensembl. # GO_process GO:0043065 positive regulation of apoptotic process; IEA:Ensembl. # GO_process GO:0043066 negative regulation of apoptotic process; IDA:UniProtKB. # GO_process GO:0043085 positive regulation of catalytic activity; IDA:HGNC. # GO_process GO:0043393 regulation of protein binding; IEA:Ensembl. # GO_process GO:0043406 positive regulation of MAP kinase activity; IEA:Ensembl. # GO_process GO:0043524 negative regulation of neuron apoptotic process; IEA:Ensembl. # GO_process GO:0043589 skin morphogenesis; IEA:Ensembl. # GO_process GO:0045893 positive regulation of transcription, DNA-templated; IMP:CACAO. # GO_process GO:0048167 regulation of synaptic plasticity; IEA:Ensembl. # GO_process GO:0048538 thymus development; IEA:Ensembl. # GO_process GO:0048666 neuron development; IEA:Ensembl. # GO_process GO:0048705 skeletal system morphogenesis; IEA:Ensembl. # GO_process GO:0048854 brain morphogenesis; IEA:Ensembl. # GO_process GO:0050673 epithelial cell proliferation; IEA:Ensembl. # GO_process GO:0050771 negative regulation of axonogenesis; IEA:Ensembl. # GO_process GO:0050820 positive regulation of coagulation; IEA:Ensembl. # GO_process GO:0050852 T cell receptor signaling pathway; IEA:Ensembl. # GO_process GO:0051402 neuron apoptotic process; IEA:Ensembl. # GO_process GO:0051444 negative regulation of ubiquitin-protein transferase activity; IEA:Ensembl. # GO_process GO:0051563 smooth endoplasmic reticulum calcium ion homeostasis; IBA:GO_Central. # GO_process GO:0051966 regulation of synaptic transmission, glutamatergic; IEA:Ensembl. # GO_process GO:0060070 canonical Wnt signaling pathway; IBA:GO_Central. # GO_process GO:0060075 regulation of resting membrane potential; IEA:Ensembl. # GO_process GO:0060999 positive regulation of dendritic spine development; IMP:CACAO. # GO_process GO:2000059 negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process; IEA:Ensembl. # GO_process GO:2001234 negative regulation of apoptotic signaling pathway; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005739 mitochondrion # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_component GO:0005794 Golgi apparatus # GOslim_component GO:0005815 microtubule organizing center # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0031410 cytoplasmic vesicle # GOslim_component GO:0043226 organelle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0008233 peptidase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0002376 immune system process # GOslim_process GO:0006464 cellular protein modification process # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007155 cell adhesion # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0008219 cell death # GOslim_process GO:0008283 cell proliferation # GOslim_process GO:0022607 cellular component assembly # GOslim_process GO:0030154 cell differentiation # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0048646 anatomical structure formation involved in morphogenesis # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0048870 cell motility # GOslim_process GO:0050877 neurological system process # GOslim_process GO:0051604 protein maturation # Genevisible P49768 HS # HGNC HGNC:9508 PSEN1 # INTERACTION PSN1_HUMAN Q02410 APBA1; NbExp=4; IntAct=EBI-297277, EBI-368690; P98084 Apba2 (xeno); NbExp=2; IntAct=EBI-297277, EBI-81669; P05067 APP; NbExp=6; IntAct=EBI-297277, EBI-77613; P05067-4 APP; NbExp=3; IntAct=EBI-297277, EBI-302641; Q63053 Arc (xeno); NbExp=3; IntAct=EBI-2606326, EBI-5275794; Q16543 CDC37; NbExp=3; IntAct=EBI-297277, EBI-295634; P35222 CTNNB1; NbExp=2; IntAct=EBI-297277, EBI-491549; Q02248 Ctnnb1 (xeno); NbExp=3; IntAct=EBI-297277, EBI-397872; Q9BQ95 ECSIT; NbExp=4; IntAct=EBI-297277, EBI-712452; P14923 JUP; NbExp=4; IntAct=EBI-297277, EBI-702484; Q92542 NCSTN; NbExp=3; IntAct=EBI-297277, EBI-998440; P50502 ST13; NbExp=3; IntAct=EBI-297277, EBI-357285; P49755 TMED10; NbExp=3; IntAct=EBI-297277, EBI-998422; # IntAct P49768 127 # InterPro IPR001108 Peptidase_A22A # InterPro IPR002031 Pept_A22A_PS1 # InterPro IPR006639 Preselin/SPP # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko01000 Enzymes # KEGG_Brite ko01002 Peptidases # KEGG_Disease H00056 [Neurodegenerative disease] Alzheimer's disease (AD) # KEGG_Disease H00078 [Neurodegenerative disease] Frontotemporal dementia, chromosome 3-linked (FTD3) # KEGG_Disease H00294 [Cardiovascular disease] Dilated cardiomyopathy (DCM) # KEGG_Disease H00681 [Skin and connective tissue disease] Hidradenitis suppurativa # KEGG_Pathway ko04310 Wnt signaling pathway # KEGG_Pathway ko04330 Notch signaling pathway # KEGG_Pathway ko04722 Neurotrophin signaling pathway # KEGG_Pathway ko05010 Alzheimer's disease # MIM 104311 gene # MIM 600274 phenotype # MIM 607822 phenotype # MIM 613694 phenotype # MIM 613737 phenotype # Organism PSN1_HUMAN Homo sapiens (Human) # Orphanet 100069 Semantic dementia # Orphanet 100070 Progressive non-fluent aphasia # Orphanet 1020 Early-onset autosomal dominant Alzheimer disease # Orphanet 154 Familial isolated dilated cardiomyopathy # Orphanet 275864 Behavioral variant of frontotemporal dementia # Orphanet 387 Hidradenitis suppurativa # PANTHER PTHR10202 PTHR10202 # PANTHER PTHR10202:SF18 PTHR10202:SF18 # PDB 2KR6 NMR; -; A=292-467 # PDB 4UIS EM; 4.40 A; B=81-463 # PDB 5A63 EM; 3.40 A; B=1-467 # PDB 5FN2 EM; 4.20 A; B=1-467 # PDB 5FN3 EM; 4.10 A; B=1-467 # PDB 5FN4 EM; 4.00 A; B=1-467 # PDB 5FN5 EM; 4.30 A; B=1-467 # PIR S58396 S58396 # PIR S63683 S63683 # PIR S63684 S63684 # PRINTS PR01072 PRESENILIN # PRINTS PR01073 PRESENILIN1 # PTM PSN1_HUMAN After endoproteolysis, the C-terminal fragment (CTF) is phosphorylated on serine residues by PKA and/or PKC. Phosphorylation on Ser-346 inhibits endoproteolysis. {ECO 0000269|PubMed 14576165, ECO 0000269|PubMed 9144240}. # PTM PSN1_HUMAN Heterogeneous proteolytic processing generates N-terminal (NTF) and C-terminal (CTF) fragments of approximately 35 and 20 kDa, respectively. During apoptosis, the C-terminal fragment (CTF) is further cleaved by caspase-3 to produce the fragment, PS1- CTF12. {ECO 0000269|PubMed 9173929}. # Pfam PF01080 Presenilin # Proteomes UP000005640 Chromosome 14 # Reactome R-HSA-1474228 Degradation of the extracellular matrix # Reactome R-HSA-6798695 Neutrophil degranulation # RecName PSN1_HUMAN Presenilin-1 # RecName PSN1_HUMAN Presenilin-1 CTF subunit # RecName PSN1_HUMAN Presenilin-1 CTF subunit # RecName PSN1_HUMAN Presenilin-1 CTF12 # RecName PSN1_HUMAN Presenilin-1 NTF subunit # RecName PSN1_HUMAN Presenilin-1 NTF subunit # RefSeq NP_000012 NM_000021.3. [P49768-1] # RefSeq NP_015557 NM_007318.2. [P49768-2] # RefSeq XP_005267921 XM_005267864.2. [P49768-1] # RefSeq XP_005267923 XM_005267866.1. [P49768-2] # RefSeq XP_011535273 XM_011536971.2. [P49768-1] # RefSeq XP_011535274 XM_011536972.2. [P49768-1] # RefSeq XP_011535275 XM_011536973.1. [P49768-2] # RefSeq XP_011535276 XM_011536974.1. [P49768-2] # SIMILARITY Belongs to the peptidase A22A family. {ECO 0000305}. # SMART SM00730 PSN # SUBCELLULAR LOCATION PSN1_HUMAN Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus membrane; Multi-pass membrane protein. Cell surface. Cell membrane {ECO 0000269|PubMed 21143716}. Note=Bound to NOTCH1 also at the cell surface. Colocalizes with CDH1/2 at sites of cell-cell contact. Colocalizes with CTNNB1 in the endoplasmic reticulum and the proximity of the plasma membrane. Also present in azurophil granules of neutrophils. Colocalizes with UBQLN1 in the cell membrane and in cytoplasmic juxtanuclear structures called aggresomes (PubMed 21143716). {ECO 0000269|PubMed 21143716}. # SUBUNIT PSN1_HUMAN Homodimer. Component of the gamma-secretase complex, a complex composed of a presenilin homodimer (PSEN1 or PSEN2), nicastrin (NCSTN), APH1 (APH1A or APH1B) and PEN2. Such minimal complex is sufficient for secretase activity. Other components which are associated with the complex include SLC25A64, SLC5A7, PHB and PSEN1 isoform 3. Predominantly heterodimer of a N-terminal (NTF) and a C-terminal (CTF) endoproteolytical fragment. Associates with proteolytic processed C-terminal fragments C83 and C99 of the amyloid precursor protein (APP). Associates with NOTCH1. Associates with cadherin/catenin adhesion complexes through direct binding to CDH1 or CDH2. Interaction with CDH1 stabilizes the complex and stimulates cell-cell aggregation. Interaction with CDH2 is essential for trafficking of CDH2 from the endoplasmic reticulum to the plasma membrane. Interacts with CTNND2, CTNNB1, HERPUD1, FLNA, FLNB, MTCH1, PKP4 and PARL. Interacts through its N-terminus with isoform 3 of GFAP. Interacts with DOCK3 (By similarity). Interacts with isoform 1 and isoform 3 of UBQLN1. {ECO 0000250|UniProtKB P49769, ECO 0000269|PubMed 10037471, ECO 0000269|PubMed 10551805, ECO 0000269|PubMed 11226248, ECO 0000269|PubMed 11799129, ECO 0000269|PubMed 12058025, ECO 0000269|PubMed 12740439, ECO 0000269|PubMed 14515347, ECO 0000269|PubMed 15274632, ECO 0000269|PubMed 16126725, ECO 0000269|PubMed 21143716, ECO 0000269|PubMed 9437013, ECO 0000269|PubMed 9738936}. # TCDB 1.A.54.1 the presenilin er ca(2+) leak channel (presenilin) family # TISSUE SPECIFICITY PSN1_HUMAN Expressed in a wide range of tissues including various regions of the brain, liver, spleen and lymph nodes. {ECO 0000269|PubMed 11987239, ECO 0000269|PubMed 8574969}. # UCSC uc001xnq human. [P49768-1] # WEB RESOURCE PSN1_HUMAN Name=Alzheimer Research Forum; Note=Presenilins mutations; URL="http //www.alzforum.org/mutations/search?genes%255B%255D=348"; # eggNOG ENOG410XPZD LUCA # eggNOG KOG2736 Eukaryota BLAST swissprot:PSN1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:PSN1_HUMAN BioCyc ZFISH:ENSG00000080815-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000080815-MONOMER COXPRESdb 5663 http://coxpresdb.jp/data/gene/5663.shtml CleanEx HS_PSEN1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_PSEN1 DIP DIP-1134N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-1134N DOI 10.1001/jama.286.18.2257 http://dx.doi.org/10.1001/jama.286.18.2257 DOI 10.1002/(SICI)1098-1004(1997)10:3<186::AID-HUMU2>3.3.CO http://dx.doi.org/10.1002/(SICI)1098-1004(1997)10:3<186::AID-HUMU2>3.3.CO DOI 10.1002/(SICI)1098-1004(1998)11:3<183::AID-HUMU1>3.0.CO http://dx.doi.org/10.1002/(SICI)1098-1004(1998)11:3<183::AID-HUMU1>3.0.CO DOI 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EC:3.4.23.- http://www.genome.jp/dbget-bin/www_bget?EC:3.4.23.- EMBL AC004858 http://www.ebi.ac.uk/ena/data/view/AC004858 EMBL AC004858 http://www.ebi.ac.uk/ena/data/view/AC004858 EMBL AF109907 http://www.ebi.ac.uk/ena/data/view/AF109907 EMBL AF416717 http://www.ebi.ac.uk/ena/data/view/AF416717 EMBL AJ008005 http://www.ebi.ac.uk/ena/data/view/AJ008005 EMBL AK312531 http://www.ebi.ac.uk/ena/data/view/AK312531 EMBL BC011729 http://www.ebi.ac.uk/ena/data/view/BC011729 EMBL CH471061 http://www.ebi.ac.uk/ena/data/view/CH471061 EMBL D84149 http://www.ebi.ac.uk/ena/data/view/D84149 EMBL L42110 http://www.ebi.ac.uk/ena/data/view/L42110 EMBL L76517 http://www.ebi.ac.uk/ena/data/view/L76517 EMBL L76519 http://www.ebi.ac.uk/ena/data/view/L76519 EMBL L76520 http://www.ebi.ac.uk/ena/data/view/L76520 EMBL L76521 http://www.ebi.ac.uk/ena/data/view/L76521 EMBL L76522 http://www.ebi.ac.uk/ena/data/view/L76522 EMBL L76523 http://www.ebi.ac.uk/ena/data/view/L76523 EMBL L76524 http://www.ebi.ac.uk/ena/data/view/L76524 EMBL L76525 http://www.ebi.ac.uk/ena/data/view/L76525 EMBL L76526 http://www.ebi.ac.uk/ena/data/view/L76526 EMBL L76527 http://www.ebi.ac.uk/ena/data/view/L76527 EMBL L76528 http://www.ebi.ac.uk/ena/data/view/L76528 EMBL U40379 http://www.ebi.ac.uk/ena/data/view/U40379 EMBL U40380 http://www.ebi.ac.uk/ena/data/view/U40380 ENZYME 3.4.23.- http://enzyme.expasy.org/EC/3.4.23.- Ensembl ENST00000324501 http://www.ensembl.org/id/ENST00000324501 Ensembl ENST00000357710 http://www.ensembl.org/id/ENST00000357710 Ensembl ENST00000394157 http://www.ensembl.org/id/ENST00000394157 Ensembl ENST00000394164 http://www.ensembl.org/id/ENST00000394164 Ensembl ENST00000553855 http://www.ensembl.org/id/ENST00000553855 Ensembl ENST00000555386 http://www.ensembl.org/id/ENST00000555386 Ensembl ENST00000557511 http://www.ensembl.org/id/ENST00000557511 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000139 GO_component GO:0000776 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000776 GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005640 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005640 GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0005765 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005765 GO_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GO_component GO:0005789 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005789 GO_component GO:0005790 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005790 GO_component GO:0005791 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005791 GO_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GO_component GO:0005813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005813 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0009986 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009986 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0016235 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016235 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0030424 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030424 GO_component GO:0030426 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030426 GO_component GO:0031410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410 GO_component GO:0031594 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031594 GO_component GO:0031965 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031965 GO_component GO:0035253 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035253 GO_component GO:0043025 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043025 GO_component GO:0043198 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043198 GO_component GO:0045121 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045121 GO_component GO:0070765 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070765 GO_component GO:0098793 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0098793 GO_function GO:0004175 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004175 GO_function GO:0004190 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004190 GO_function GO:0005262 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005262 GO_function GO:0008013 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008013 GO_function GO:0030165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030165 GO_function GO:0045296 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045296 GO_process GO:0000045 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000045 GO_process GO:0000122 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000122 GO_process GO:0000186 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000186 GO_process GO:0001568 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001568 GO_process GO:0001708 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001708 GO_process GO:0001756 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001756 GO_process GO:0001764 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001764 GO_process GO:0001921 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001921 GO_process GO:0001947 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001947 GO_process GO:0002244 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002244 GO_process GO:0002286 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002286 GO_process GO:0003407 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003407 GO_process GO:0006486 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006486 GO_process GO:0006509 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006509 GO_process GO:0006839 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006839 GO_process GO:0006974 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006974 GO_process GO:0006979 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006979 GO_process GO:0007175 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007175 GO_process GO:0007219 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007219 GO_process GO:0007220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007220 GO_process GO:0007613 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007613 GO_process GO:0009791 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009791 GO_process GO:0015031 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015031 GO_process GO:0015813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015813 GO_process GO:0015871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015871 GO_process GO:0016080 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016080 GO_process GO:0016337 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016337 GO_process GO:0016485 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016485 GO_process GO:0021795 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021795 GO_process GO:0021870 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021870 GO_process GO:0021904 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021904 GO_process GO:0030326 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030326 GO_process GO:0032436 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032436 GO_process GO:0032469 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032469 GO_process GO:0034205 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034205 GO_process GO:0035556 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035556 GO_process GO:0042325 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042325 GO_process GO:0042987 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042987 GO_process GO:0043011 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043011 GO_process GO:0043065 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043065 GO_process GO:0043066 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043066 GO_process GO:0043085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043085 GO_process GO:0043393 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043393 GO_process GO:0043406 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043406 GO_process GO:0043524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043524 GO_process GO:0043589 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043589 GO_process GO:0045893 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045893 GO_process GO:0048167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048167 GO_process GO:0048538 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048538 GO_process GO:0048666 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048666 GO_process GO:0048705 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048705 GO_process GO:0048854 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048854 GO_process GO:0050673 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050673 GO_process GO:0050771 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050771 GO_process GO:0050820 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050820 GO_process GO:0050852 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050852 GO_process GO:0051402 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051402 GO_process GO:0051444 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051444 GO_process GO:0051563 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051563 GO_process GO:0051966 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051966 GO_process GO:0060070 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060070 GO_process GO:0060075 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060075 GO_process GO:0060999 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060999 GO_process GO:2000059 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000059 GO_process GO:2001234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2001234 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GOslim_component GO:0005815 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005815 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0031410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0008233 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008233 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0002376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002376 GOslim_process GO:0006464 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006464 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007155 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007155 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0008219 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008219 GOslim_process GO:0008283 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008283 GOslim_process GO:0022607 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022607 GOslim_process GO:0030154 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030154 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0048646 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048646 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0048870 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048870 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GOslim_process GO:0051604 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051604 GeneCards PSEN1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=PSEN1 GeneID 5663 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=5663 GeneTree ENSGT00390000016593 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000016593 HGNC HGNC:9508 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:9508 HOVERGEN HBG011375 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG011375&db=HOVERGEN HPA CAB006844 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB006844 HPA HPA030760 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA030760 HPA HPA067496 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA067496 InParanoid P49768 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P49768 IntAct P49768 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P49768* IntEnz 3.4.23 http://www.ebi.ac.uk/intenz/query?cmd=Search&q=3.4.23 InterPro IPR001108 http://www.ebi.ac.uk/interpro/entry/IPR001108 InterPro IPR002031 http://www.ebi.ac.uk/interpro/entry/IPR002031 InterPro IPR006639 http://www.ebi.ac.uk/interpro/entry/IPR006639 Jabion 5663 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=5663 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Brite ko01002 http://www.genome.jp/dbget-bin/www_bget?ko01002 KEGG_Disease H00056 http://www.genome.jp/dbget-bin/www_bget?H00056 KEGG_Disease H00078 http://www.genome.jp/dbget-bin/www_bget?H00078 KEGG_Disease H00294 http://www.genome.jp/dbget-bin/www_bget?H00294 KEGG_Disease H00681 http://www.genome.jp/dbget-bin/www_bget?H00681 KEGG_Gene hsa:5663 http://www.genome.jp/dbget-bin/www_bget?hsa:5663 KEGG_Orthology KO:K04505 http://www.genome.jp/dbget-bin/www_bget?KO:K04505 KEGG_Pathway ko04310 http://www.genome.jp/kegg-bin/show_pathway?ko04310 KEGG_Pathway ko04330 http://www.genome.jp/kegg-bin/show_pathway?ko04330 KEGG_Pathway ko04722 http://www.genome.jp/kegg-bin/show_pathway?ko04722 KEGG_Pathway ko05010 http://www.genome.jp/kegg-bin/show_pathway?ko05010 MIM 104311 http://www.ncbi.nlm.nih.gov/omim/104311 MIM 600274 http://www.ncbi.nlm.nih.gov/omim/600274 MIM 607822 http://www.ncbi.nlm.nih.gov/omim/607822 MIM 613694 http://www.ncbi.nlm.nih.gov/omim/613694 MIM 613737 http://www.ncbi.nlm.nih.gov/omim/613737 MINT MINT-88325 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-88325 OMA NTNDNRE http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=NTNDNRE Orphanet 100069 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=100069 Orphanet 100070 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=100070 Orphanet 1020 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1020 Orphanet 154 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=154 Orphanet 275864 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=275864 Orphanet 387 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=387 OrthoDB EOG091G0C72 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0C72 PANTHER PTHR10202 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10202 PANTHER PTHR10202:SF18 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10202:SF18 PDB 2KR6 http://www.ebi.ac.uk/pdbe-srv/view/entry/2KR6 PDB 4UIS http://www.ebi.ac.uk/pdbe-srv/view/entry/4UIS PDB 5A63 http://www.ebi.ac.uk/pdbe-srv/view/entry/5A63 PDB 5FN2 http://www.ebi.ac.uk/pdbe-srv/view/entry/5FN2 PDB 5FN3 http://www.ebi.ac.uk/pdbe-srv/view/entry/5FN3 PDB 5FN4 http://www.ebi.ac.uk/pdbe-srv/view/entry/5FN4 PDB 5FN5 http://www.ebi.ac.uk/pdbe-srv/view/entry/5FN5 PDBsum 2KR6 http://www.ebi.ac.uk/pdbsum/2KR6 PDBsum 4UIS http://www.ebi.ac.uk/pdbsum/4UIS PDBsum 5A63 http://www.ebi.ac.uk/pdbsum/5A63 PDBsum 5FN2 http://www.ebi.ac.uk/pdbsum/5FN2 PDBsum 5FN3 http://www.ebi.ac.uk/pdbsum/5FN3 PDBsum 5FN4 http://www.ebi.ac.uk/pdbsum/5FN4 PDBsum 5FN5 http://www.ebi.ac.uk/pdbsum/5FN5 PRINTS PR01072 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01072 PRINTS PR01073 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01073 PSORT swissprot:PSN1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:PSN1_HUMAN PSORT-B swissprot:PSN1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:PSN1_HUMAN PSORT2 swissprot:PSN1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:PSN1_HUMAN Pfam PF01080 http://pfam.xfam.org/family/PF01080 PharmGKB PA33855 http://www.pharmgkb.org/do/serve?objId=PA33855&objCls=Gene Phobius swissprot:PSN1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:PSN1_HUMAN PhylomeDB P49768 http://phylomedb.org/?seqid=P49768 ProteinModelPortal P49768 http://www.proteinmodelportal.org/query/uniprot/P49768 PubMed 10025789 http://www.ncbi.nlm.nih.gov/pubmed/10025789 PubMed 10037471 http://www.ncbi.nlm.nih.gov/pubmed/10037471 PubMed 10090481 http://www.ncbi.nlm.nih.gov/pubmed/10090481 PubMed 10200054 http://www.ncbi.nlm.nih.gov/pubmed/10200054 PubMed 10206644 http://www.ncbi.nlm.nih.gov/pubmed/10206644 PubMed 10208579 http://www.ncbi.nlm.nih.gov/pubmed/10208579 PubMed 10439444 http://www.ncbi.nlm.nih.gov/pubmed/10439444 PubMed 10441572 http://www.ncbi.nlm.nih.gov/pubmed/10441572 PubMed 10447269 http://www.ncbi.nlm.nih.gov/pubmed/10447269 PubMed 10533070 http://www.ncbi.nlm.nih.gov/pubmed/10533070 PubMed 10545183 http://www.ncbi.nlm.nih.gov/pubmed/10545183 PubMed 10551805 http://www.ncbi.nlm.nih.gov/pubmed/10551805 PubMed 10593990 http://www.ncbi.nlm.nih.gov/pubmed/10593990 PubMed 10631141 http://www.ncbi.nlm.nih.gov/pubmed/10631141 PubMed 10644793 http://www.ncbi.nlm.nih.gov/pubmed/10644793 PubMed 10811883 http://www.ncbi.nlm.nih.gov/pubmed/10811883 PubMed 10899933 http://www.ncbi.nlm.nih.gov/pubmed/10899933 PubMed 11027672 http://www.ncbi.nlm.nih.gov/pubmed/11027672 PubMed 11094121 http://www.ncbi.nlm.nih.gov/pubmed/11094121 PubMed 11226248 http://www.ncbi.nlm.nih.gov/pubmed/11226248 PubMed 11524469 http://www.ncbi.nlm.nih.gov/pubmed/11524469 PubMed 11710891 http://www.ncbi.nlm.nih.gov/pubmed/11710891 PubMed 11799129 http://www.ncbi.nlm.nih.gov/pubmed/11799129 PubMed 11920851 http://www.ncbi.nlm.nih.gov/pubmed/11920851 PubMed 11987239 http://www.ncbi.nlm.nih.gov/pubmed/11987239 PubMed 12048239 http://www.ncbi.nlm.nih.gov/pubmed/12048239 PubMed 12058025 http://www.ncbi.nlm.nih.gov/pubmed/12058025 PubMed 12484344 http://www.ncbi.nlm.nih.gov/pubmed/12484344 PubMed 12493737 http://www.ncbi.nlm.nih.gov/pubmed/12493737 PubMed 12508121 http://www.ncbi.nlm.nih.gov/pubmed/12508121 PubMed 12679784 http://www.ncbi.nlm.nih.gov/pubmed/12679784 PubMed 12740439 http://www.ncbi.nlm.nih.gov/pubmed/12740439 PubMed 14515347 http://www.ncbi.nlm.nih.gov/pubmed/14515347 PubMed 14576165 http://www.ncbi.nlm.nih.gov/pubmed/14576165 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 14759258 http://www.ncbi.nlm.nih.gov/pubmed/14759258 PubMed 15274632 http://www.ncbi.nlm.nih.gov/pubmed/15274632 PubMed 15341515 http://www.ncbi.nlm.nih.gov/pubmed/15341515 PubMed 15385547 http://www.ncbi.nlm.nih.gov/pubmed/15385547 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16126725 http://www.ncbi.nlm.nih.gov/pubmed/16126725 PubMed 16305624 http://www.ncbi.nlm.nih.gov/pubmed/16305624 PubMed 17081983 http://www.ncbi.nlm.nih.gov/pubmed/17081983 PubMed 17186461 http://www.ncbi.nlm.nih.gov/pubmed/17186461 PubMed 18485326 http://www.ncbi.nlm.nih.gov/pubmed/18485326 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 18691976 http://www.ncbi.nlm.nih.gov/pubmed/18691976 PubMed 19690332 http://www.ncbi.nlm.nih.gov/pubmed/19690332 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 20460383 http://www.ncbi.nlm.nih.gov/pubmed/20460383 PubMed 20929727 http://www.ncbi.nlm.nih.gov/pubmed/20929727 PubMed 21143716 http://www.ncbi.nlm.nih.gov/pubmed/21143716 PubMed 21248752 http://www.ncbi.nlm.nih.gov/pubmed/21248752 PubMed 21406692 http://www.ncbi.nlm.nih.gov/pubmed/21406692 PubMed 22503161 http://www.ncbi.nlm.nih.gov/pubmed/22503161 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 26145164 http://www.ncbi.nlm.nih.gov/pubmed/26145164 PubMed 26549787 http://www.ncbi.nlm.nih.gov/pubmed/26549787 PubMed 7550356 http://www.ncbi.nlm.nih.gov/pubmed/7550356 PubMed 7596406 http://www.ncbi.nlm.nih.gov/pubmed/7596406 PubMed 7651536 http://www.ncbi.nlm.nih.gov/pubmed/7651536 PubMed 8574969 http://www.ncbi.nlm.nih.gov/pubmed/8574969 PubMed 8634711 http://www.ncbi.nlm.nih.gov/pubmed/8634711 PubMed 8634712 http://www.ncbi.nlm.nih.gov/pubmed/8634712 PubMed 8641442 http://www.ncbi.nlm.nih.gov/pubmed/8641442 PubMed 8733303 http://www.ncbi.nlm.nih.gov/pubmed/8733303 PubMed 8804415 http://www.ncbi.nlm.nih.gov/pubmed/8804415 PubMed 8875251 http://www.ncbi.nlm.nih.gov/pubmed/8875251 PubMed 9070286 http://www.ncbi.nlm.nih.gov/pubmed/9070286 PubMed 9144240 http://www.ncbi.nlm.nih.gov/pubmed/9144240 PubMed 9172170 http://www.ncbi.nlm.nih.gov/pubmed/9172170 PubMed 9173929 http://www.ncbi.nlm.nih.gov/pubmed/9173929 PubMed 9225696 http://www.ncbi.nlm.nih.gov/pubmed/9225696 PubMed 9298817 http://www.ncbi.nlm.nih.gov/pubmed/9298817 PubMed 9384602 http://www.ncbi.nlm.nih.gov/pubmed/9384602 PubMed 9437013 http://www.ncbi.nlm.nih.gov/pubmed/9437013 PubMed 9485372 http://www.ncbi.nlm.nih.gov/pubmed/9485372 PubMed 9507958 http://www.ncbi.nlm.nih.gov/pubmed/9507958 PubMed 9521418 http://www.ncbi.nlm.nih.gov/pubmed/9521418 PubMed 9521423 http://www.ncbi.nlm.nih.gov/pubmed/9521423 PubMed 9719376 http://www.ncbi.nlm.nih.gov/pubmed/9719376 PubMed 9738936 http://www.ncbi.nlm.nih.gov/pubmed/9738936 PubMed 9831473 http://www.ncbi.nlm.nih.gov/pubmed/9831473 PubMed 9833068 http://www.ncbi.nlm.nih.gov/pubmed/9833068 PubMed 9851443 http://www.ncbi.nlm.nih.gov/pubmed/9851443 PubMed 9851450 http://www.ncbi.nlm.nih.gov/pubmed/9851450 PubMed 9915968 http://www.ncbi.nlm.nih.gov/pubmed/9915968 Reactome R-HSA-1474228 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1474228 Reactome R-HSA-6798695 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6798695 RefSeq NP_000012 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000012 RefSeq NP_015557 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_015557 RefSeq XP_005267921 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005267921 RefSeq XP_005267923 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005267923 RefSeq XP_011535273 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011535273 RefSeq XP_011535274 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011535274 RefSeq XP_011535275 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011535275 RefSeq XP_011535276 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011535276 SMART SM00730 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00730 SMR P49768 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P49768 STRING 9606.ENSP00000326366 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000326366&targetmode=cogs TCDB 1.A.54.1 http://www.tcdb.org/search/result.php?tc=1.A.54.1 UCSC uc001xnq http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001xnq&org=rat UniGene Hs.3260 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.3260 UniProtKB PSN1_HUMAN http://www.uniprot.org/uniprot/PSN1_HUMAN UniProtKB-AC P49768 http://www.uniprot.org/uniprot/P49768 charge swissprot:PSN1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:PSN1_HUMAN eggNOG ENOG410XPZD http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XPZD eggNOG KOG2736 http://eggnogapi.embl.de/nog_data/html/tree/KOG2736 epestfind swissprot:PSN1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:PSN1_HUMAN garnier swissprot:PSN1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:PSN1_HUMAN helixturnhelix swissprot:PSN1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:PSN1_HUMAN hmoment swissprot:PSN1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:PSN1_HUMAN iep swissprot:PSN1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:PSN1_HUMAN inforesidue swissprot:PSN1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:PSN1_HUMAN neXtProt NX_P49768 http://www.nextprot.org/db/entry/NX_P49768 octanol swissprot:PSN1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:PSN1_HUMAN pepcoil swissprot:PSN1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:PSN1_HUMAN pepdigest swissprot:PSN1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:PSN1_HUMAN pepinfo swissprot:PSN1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:PSN1_HUMAN pepnet swissprot:PSN1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:PSN1_HUMAN pepstats swissprot:PSN1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:PSN1_HUMAN pepwheel swissprot:PSN1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:PSN1_HUMAN pepwindow swissprot:PSN1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:PSN1_HUMAN sigcleave swissprot:PSN1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:PSN1_HUMAN ## Database ID URL or Descriptions # Ensembl ENST00000476166 ENSP00000473361; ENSG00000150201 # Ensembl ENST00000616495 ENSP00000483791; ENSG00000150201 # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_function GO:0005267 potassium channel activity; IEA:Ensembl. # GO_function GO:0017080 sodium channel regulator activity; IBA:GO_Central. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:1903779 regulation of cardiac conduction; TAS:Reactome. # GO_process GO:2000649 regulation of sodium ion transmembrane transporter activity; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0008150 biological_process # GOslim_process GO:0055085 transmembrane transport # Genevisible P59646 HS # HGNC HGNC:4028 FXYD4 # InterPro IPR000272 Ion-transport_regulator_FXYD # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02000 Transporters # KEGG_Pathway ko04960 Aldosterone-regulated sodium reabsorption # Organism FXYD4_HUMAN Homo sapiens (Human) # PROSITE PS01310 FXYD # Pfam PF02038 ATP1G1_PLM_MAT8 # Proteomes UP000005640 Chromosome 10 # Reactome R-HSA-5578775 Ion homeostasis # Reactome R-HSA-936837 Ion transport by P-type ATPases # RecName FXYD4_HUMAN FXYD domain-containing ion transport regulator 4 # RefSeq NP_001171892 NM_001184963.1 # RefSeq NP_775183 NM_173160.2 # SIMILARITY Belongs to the FXYD family. {ECO 0000305}. # SUBCELLULAR LOCATION FXYD4_HUMAN Membrane {ECO 0000305}; Single-pass type I membrane protein {ECO 0000305}. # UCSC uc001jaq human # eggNOG ENOG410J4PQ Eukaryota # eggNOG ENOG4111AWX LUCA BLAST swissprot:FXYD4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:FXYD4_HUMAN COXPRESdb 53828 http://coxpresdb.jp/data/gene/53828.shtml CleanEx HS_FXYD4 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_FXYD4 DOI 10.1006/geno.2000.6274 http://dx.doi.org/10.1006/geno.2000.6274 DOI 10.1038/nature02462 http://dx.doi.org/10.1038/nature02462 DOI 10.1101/gr.1293003 http://dx.doi.org/10.1101/gr.1293003 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AL512654 http://www.ebi.ac.uk/ena/data/view/AL512654 EMBL AY358584 http://www.ebi.ac.uk/ena/data/view/AY358584 EMBL BC054876 http://www.ebi.ac.uk/ena/data/view/BC054876 Ensembl ENST00000476166 http://www.ensembl.org/id/ENST00000476166 Ensembl ENST00000616495 http://www.ensembl.org/id/ENST00000616495 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0005267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005267 GO_function GO:0017080 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0017080 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:1903779 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903779 GO_process GO:2000649 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000649 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards FXYD4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=FXYD4 GeneID 53828 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=53828 GeneTree ENSGT00530000063998 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000063998 HGNC HGNC:4028 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:4028 HOGENOM HOG000234469 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000234469&db=HOGENOM6 HPA HPA058421 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA058421 InParanoid P59646 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P59646 InterPro IPR000272 http://www.ebi.ac.uk/interpro/entry/IPR000272 Jabion 53828 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=53828 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Gene hsa:53828 http://www.genome.jp/dbget-bin/www_bget?hsa:53828 KEGG_Orthology KO:K13359 http://www.genome.jp/dbget-bin/www_bget?KO:K13359 KEGG_Pathway ko04960 http://www.genome.jp/kegg-bin/show_pathway?ko04960 OMA PGSASTC http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=PGSASTC PROSITE PS01310 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS01310 PSORT swissprot:FXYD4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:FXYD4_HUMAN PSORT-B swissprot:FXYD4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:FXYD4_HUMAN PSORT2 swissprot:FXYD4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:FXYD4_HUMAN Pfam PF02038 http://pfam.xfam.org/family/PF02038 PharmGKB PA28444 http://www.pharmgkb.org/do/serve?objId=PA28444&objCls=Gene Phobius swissprot:FXYD4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:FXYD4_HUMAN PhylomeDB P59646 http://phylomedb.org/?seqid=P59646 ProteinModelPortal P59646 http://www.proteinmodelportal.org/query/uniprot/P59646 PubMed 10950925 http://www.ncbi.nlm.nih.gov/pubmed/10950925 PubMed 12975309 http://www.ncbi.nlm.nih.gov/pubmed/12975309 PubMed 15164054 http://www.ncbi.nlm.nih.gov/pubmed/15164054 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 Reactome R-HSA-5578775 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5578775 Reactome R-HSA-936837 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-936837 RefSeq NP_001171892 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001171892 RefSeq NP_775183 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_775183 SMR P59646 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P59646 STRING 9606.ENSP00000363575 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000363575&targetmode=cogs UCSC uc001jaq http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001jaq&org=rat UniGene Hs.130497 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.130497 UniProtKB FXYD4_HUMAN http://www.uniprot.org/uniprot/FXYD4_HUMAN UniProtKB-AC P59646 http://www.uniprot.org/uniprot/P59646 charge swissprot:FXYD4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:FXYD4_HUMAN eggNOG ENOG410J4PQ http://eggnogapi.embl.de/nog_data/html/tree/ENOG410J4PQ eggNOG ENOG4111AWX http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111AWX epestfind swissprot:FXYD4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:FXYD4_HUMAN garnier swissprot:FXYD4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:FXYD4_HUMAN helixturnhelix swissprot:FXYD4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:FXYD4_HUMAN hmoment swissprot:FXYD4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:FXYD4_HUMAN iep swissprot:FXYD4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:FXYD4_HUMAN inforesidue swissprot:FXYD4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:FXYD4_HUMAN neXtProt NX_P59646 http://www.nextprot.org/db/entry/NX_P59646 octanol swissprot:FXYD4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:FXYD4_HUMAN pepcoil swissprot:FXYD4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:FXYD4_HUMAN pepdigest swissprot:FXYD4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:FXYD4_HUMAN pepinfo swissprot:FXYD4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:FXYD4_HUMAN pepnet swissprot:FXYD4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:FXYD4_HUMAN pepstats swissprot:FXYD4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:FXYD4_HUMAN pepwheel swissprot:FXYD4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:FXYD4_HUMAN pepwindow swissprot:FXYD4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:FXYD4_HUMAN sigcleave swissprot:FXYD4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:FXYD4_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S61A1_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P61619-1; Sequence=Displayed; Name=3; IsoId=P61619-3; Sequence=VSP_013747; Note=No experimental confirmation available.; # BioGrid 118968 64 # CCDS CCDS3046 -. [P61619-1] # ChiTaRS SEC61A1 human # Ensembl ENST00000243253 ENSP00000243253; ENSG00000058262. [P61619-1] # Ensembl ENST00000424880 ENSP00000411445; ENSG00000058262. [P61619-3] # ExpressionAtlas P61619 baseline and differential # FUNCTION S61A1_HUMAN Plays a crucial role in the insertion of secretory and membrane polypeptides into the ER. Required for assembly of membrane and secretory proteins. Tightly associated with membrane- bound ribosomes, either directly or through adapter proteins. # GO_component GO:0005791 rough endoplasmic reticulum; IEA:Ensembl. # GO_component GO:0005829 cytosol; TAS:Reactome. # GO_component GO:0016020 membrane; IDA:MGI. # GO_component GO:0030176 integral component of endoplasmic reticulum membrane; ISS:UniProtKB. # GO_function GO:0022857 transmembrane transporter activity; IEA:Ensembl. # GO_function GO:0043022 ribosome binding; ISS:UniProtKB. # GO_process GO:0006614 SRP-dependent cotranslational protein targeting to membrane; IMP:MGI. # GO_process GO:0006620 posttranslational protein targeting to membrane; IMP:MGI. # GO_process GO:0007029 endoplasmic reticulum organization; IMP:MGI. # GO_process GO:0016049 cell growth; IMP:MGI. # GO_process GO:0034341 response to interferon-gamma; IEA:Ensembl. # GO_process GO:0036498 IRE1-mediated unfolded protein response; TAS:Reactome. # GO_process GO:0045047 protein targeting to ER; ISS:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_component GO:0005829 cytosol # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006605 protein targeting # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0040007 growth # GOslim_process GO:0061024 membrane organization # Gene3D 1.10.3370.10 -; 1. # Genevisible P61619 HS # HGNC HGNC:18276 SEC61A1 # INTERACTION S61A1_HUMAN P27824 CANX; NbExp=3; IntAct=EBI-358919, EBI-355947; P11021 HSPA5; NbExp=3; IntAct=EBI-358919, EBI-354921; # IntAct P61619 35 # InterPro IPR002208 SecY/SEC61-alpha # InterPro IPR019561 Translocon_Sec61/SecY_plug_dom # InterPro IPR023201 SecY_su_dom # InterPro IPR030659 SecY_CS # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Brite ko02044 M00401 Sec61 complex # KEGG_Brite ko02044 Secretion system # KEGG_Pathway ko03060 Protein export # KEGG_Pathway ko04141 Protein processing in endoplasmic reticulum # KEGG_Pathway ko04145 Phagosome # KEGG_Pathway ko05110 Vibrio cholerae infection # MIM 609213 gene # Organism S61A1_HUMAN Homo sapiens (Human) # PANTHER PTHR10906 PTHR10906 # PIRSF PIRSF004557 SecY # PROSITE PS00755 SECY_1 # PROSITE PS00756 SECY_2 # Pfam PF00344 SecY # Pfam PF10559 Plug_translocon # Proteomes UP000005640 Chromosome 3 # Reactome R-HSA-1236974 ER-Phagosome pathway # Reactome R-HSA-1799339 SRP-dependent cotranslational protein targeting to membrane # Reactome R-HSA-381038 XBP1(S) activates chaperone genes # RecName S61A1_HUMAN Protein transport protein Sec61 subunit alpha isoform 1 # RefSeq NP_037468 NM_013336.3. [P61619-1] # SEQUENCE CAUTION Sequence=BAC11283.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAC11434.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the SecY/SEC61-alpha family. {ECO 0000305}. # SUBCELLULAR LOCATION S61A1_HUMAN Endoplasmic reticulum membrane; Multi-pass membrane protein. # SUBUNIT S61A1_HUMAN Heterotrimeric complex composed of SEC61-alpha, SEC61- beta and SEC61-gamma. # SUPFAM SSF103491 SSF103491 # TCDB 3.A.5.9 the general secretory pathway (sec) family # TIGRFAMs TIGR00967 3a0501s007 # UCSC uc003ekb human. [P61619-1] # eggNOG COG0201 LUCA # eggNOG KOG1373 Eukaryota BLAST swissprot:S61A1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S61A1_HUMAN COXPRESdb 29927 http://coxpresdb.jp/data/gene/29927.shtml DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AF077032 http://www.ebi.ac.uk/ena/data/view/AF077032 EMBL AF084458 http://www.ebi.ac.uk/ena/data/view/AF084458 EMBL AF346602 http://www.ebi.ac.uk/ena/data/view/AF346602 EMBL AK074907 http://www.ebi.ac.uk/ena/data/view/AK074907 EMBL AK074928 http://www.ebi.ac.uk/ena/data/view/AK074928 EMBL AK075148 http://www.ebi.ac.uk/ena/data/view/AK075148 EMBL AL831940 http://www.ebi.ac.uk/ena/data/view/AL831940 EMBL AL832821 http://www.ebi.ac.uk/ena/data/view/AL832821 Ensembl ENST00000243253 http://www.ensembl.org/id/ENST00000243253 Ensembl ENST00000424880 http://www.ensembl.org/id/ENST00000424880 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005791 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005791 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0030176 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030176 GO_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GO_function GO:0043022 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043022 GO_process GO:0006614 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006614 GO_process GO:0006620 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006620 GO_process GO:0007029 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007029 GO_process GO:0016049 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016049 GO_process GO:0034341 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034341 GO_process GO:0036498 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0036498 GO_process GO:0045047 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045047 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006605 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006605 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0040007 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0040007 GOslim_process GO:0061024 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061024 Gene3D 1.10.3370.10 http://www.cathdb.info/version/latest/superfamily/1.10.3370.10 GeneCards SEC61A1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SEC61A1 GeneID 29927 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=29927 GeneTree ENSGT00390000003721 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000003721 HGNC HGNC:18276 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:18276 HOVERGEN HBG055271 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG055271&db=HOVERGEN HPA CAB022076 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB022076 HPA HPA045070 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA045070 InParanoid P61619 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P61619 IntAct P61619 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P61619* InterPro IPR002208 http://www.ebi.ac.uk/interpro/entry/IPR002208 InterPro IPR019561 http://www.ebi.ac.uk/interpro/entry/IPR019561 InterPro IPR023201 http://www.ebi.ac.uk/interpro/entry/IPR023201 InterPro IPR030659 http://www.ebi.ac.uk/interpro/entry/IPR030659 Jabion 29927 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=29927 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00002 http://www.genome.jp/dbget-bin/www_bget?ko00002 KEGG_Brite ko02044 http://www.genome.jp/dbget-bin/www_bget?ko02044 KEGG_Brite ko02044 http://www.genome.jp/dbget-bin/www_bget?ko02044 KEGG_Gene hsa:29927 http://www.genome.jp/dbget-bin/www_bget?hsa:29927 KEGG_Orthology KO:K10956 http://www.genome.jp/dbget-bin/www_bget?KO:K10956 KEGG_Pathway ko03060 http://www.genome.jp/kegg-bin/show_pathway?ko03060 KEGG_Pathway ko04141 http://www.genome.jp/kegg-bin/show_pathway?ko04141 KEGG_Pathway ko04145 http://www.genome.jp/kegg-bin/show_pathway?ko04145 KEGG_Pathway ko05110 http://www.genome.jp/kegg-bin/show_pathway?ko05110 MIM 609213 http://www.ncbi.nlm.nih.gov/omim/609213 MINT MINT-1133988 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1133988 PANTHER PTHR10906 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10906 PROSITE PS00755 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00755 PROSITE PS00756 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00756 PSORT swissprot:S61A1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S61A1_HUMAN PSORT-B swissprot:S61A1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S61A1_HUMAN PSORT2 swissprot:S61A1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S61A1_HUMAN Pfam PF00344 http://pfam.xfam.org/family/PF00344 Pfam PF10559 http://pfam.xfam.org/family/PF10559 PharmGKB PA134901772 http://www.pharmgkb.org/do/serve?objId=PA134901772&objCls=Gene Phobius swissprot:S61A1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S61A1_HUMAN PhylomeDB P61619 http://phylomedb.org/?seqid=P61619 ProteinModelPortal P61619 http://www.proteinmodelportal.org/query/uniprot/P61619 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 Reactome R-HSA-1236974 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1236974 Reactome R-HSA-1799339 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1799339 Reactome R-HSA-381038 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-381038 RefSeq NP_037468 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_037468 STRING 9606.ENSP00000243253 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000243253&targetmode=cogs SUPFAM SSF103491 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103491 TCDB 3.A.5.9 http://www.tcdb.org/search/result.php?tc=3.A.5.9 TIGRFAMs TIGR00967 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00967 UCSC uc003ekb http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003ekb&org=rat UniGene Hs.518236 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.518236 UniProtKB S61A1_HUMAN http://www.uniprot.org/uniprot/S61A1_HUMAN UniProtKB-AC P61619 http://www.uniprot.org/uniprot/P61619 charge swissprot:S61A1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S61A1_HUMAN eggNOG COG0201 http://eggnogapi.embl.de/nog_data/html/tree/COG0201 eggNOG KOG1373 http://eggnogapi.embl.de/nog_data/html/tree/KOG1373 epestfind swissprot:S61A1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S61A1_HUMAN garnier swissprot:S61A1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S61A1_HUMAN helixturnhelix swissprot:S61A1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S61A1_HUMAN hmoment swissprot:S61A1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S61A1_HUMAN iep swissprot:S61A1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S61A1_HUMAN inforesidue swissprot:S61A1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S61A1_HUMAN neXtProt NX_P61619 http://www.nextprot.org/db/entry/NX_P61619 octanol swissprot:S61A1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S61A1_HUMAN pepcoil swissprot:S61A1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S61A1_HUMAN pepdigest swissprot:S61A1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S61A1_HUMAN pepinfo swissprot:S61A1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S61A1_HUMAN pepnet swissprot:S61A1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S61A1_HUMAN pepstats swissprot:S61A1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S61A1_HUMAN pepwheel swissprot:S61A1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S61A1_HUMAN pepwindow swissprot:S61A1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S61A1_HUMAN sigcleave swissprot:S61A1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S61A1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S36A2_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q495M3-1; Sequence=Displayed; Name=2; IsoId=Q495M3-2; Sequence=VSP_032372; Note=No experimental confirmation available.; Name=3; IsoId=Q495M3-3; Sequence=VSP_032371, VSP_032373; Note=No experimental confirmation available.; # AltName S36A2_HUMAN Solute carrier family 36 member 2 # AltName S36A2_HUMAN Tramdorin-1 # CCDS CCDS4315 -. [Q495M3-1] # ChiTaRS SLC36A2 human # DISEASE S36A2_HUMAN Hyperglycinuria (HG) [MIM 138500] A condition characterized by excess of glycine in the urine. In some cases it is associated with renal colic and renal oxalate stones. {ECO 0000269|PubMed 19033659}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE S36A2_HUMAN Iminoglycinuria (IG) [MIM 242600] A disorder of renal tubular reabsorption of glycine and imino acids (proline and hydroxyproline), marked by excessive levels of all three substances in the urine. {ECO 0000269|PubMed 19033659}. Note=The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry. Mutations in SLC36A2 that retain residual transport activity result in the IG phenotype only when combined with haploinsufficiency of the imino acid transporter SLC6A20 or deficiency of the neutral amino acid transporter SLC6A19. Additional polymorphisms and mutations in SLC6A18 can contribute to iminoglycinuria in some families. # DrugBank DB00260 Cycloserine # Ensembl ENST00000335244 ENSP00000334223; ENSG00000186335. [Q495M3-1] # ExpressionAtlas Q495M3 baseline and differential # FUNCTION S36A2_HUMAN Involved in a pH-dependent electrogenic neuronal transport and sequestration of small amino acids. Transports glycine and proline. Inhibited by sarcosine (By similarity). {ECO 0000250, ECO 0000269|PubMed 19033659}. # GO_component GO:0005737 cytoplasm; IEA:UniProtKB-SubCell. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0015078 hydrogen ion transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015171 amino acid transmembrane transporter activity; TAS:Reactome. # GO_function GO:0015180 L-alanine transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015187 glycine transmembrane transporter activity; IMP:UniProtKB. # GO_function GO:0015193 L-proline transmembrane transporter activity; IBA:GO_Central. # GO_function S36A2_HUMAN GO 0005280 hydrogen amino acid symporter activity; IBA GO_Central. # GO_process GO:0006811 ion transport; TAS:Reactome. # GO_process GO:0006865 amino acid transport; TAS:Reactome. # GO_process GO:0015824 proline transport; IEA:Ensembl. # GO_process GO:0035524 proline transmembrane transport; IMP:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0055085 transmembrane transport # HGNC HGNC:18762 SLC36A2 # InterPro IPR013057 AA_transpt_TM # KEGG_Brite ko02001 Solute carrier family # KEGG_Disease H00905 [Urinary system disease; Kidney disease; Inherited metabolic disease] Iminoglycinuria # KEGG_Disease H01304 [Kidney disease] Hyperglycinuria # MIM 138500 phenotype # MIM 242600 phenotype # MIM 608331 gene # Organism S36A2_HUMAN Homo sapiens (Human) # Orphanet 42062 Iminoglycinuria # Pfam PF01490 Aa_trans # Proteomes UP000005640 Chromosome 5 # Reactome R-HSA-352230 Amino acid transport across the plasma membrane # Reactome R-HSA-428559 Proton-coupled neutral amino acid transporters # RecName S36A2_HUMAN Proton-coupled amino acid transporter 2 # RefSeq NP_861441 NM_181776.2. [Q495M3-1] # RefSeq XP_016864573 XM_017009084.1. [Q495M3-2] # SIMILARITY Belongs to the amino acid/polyamine transporter 2 family. {ECO 0000305}. # SUBCELLULAR LOCATION S36A2_HUMAN Cell membrane; Multi-pass membrane protein. Cytoplasm {ECO 0000250}. # TCDB 2.A.18.8 the amino acid/auxin permease (aaap) family # TISSUE SPECIFICITY S36A2_HUMAN Abundantly expressed in kidney and muscle. Expressed in the S1 segment of the proximal tubule close to the glomerulus. {ECO 0000269|PubMed 15058382, ECO 0000269|PubMed 19033659}. # UCSC uc003lty human. [Q495M3-1] # eggNOG COG0814 LUCA # eggNOG KOG1304 Eukaryota BLAST swissprot:S36A2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S36A2_HUMAN BioCyc ZFISH:G66-33604-MONOMER http://biocyc.org/getid?id=ZFISH:G66-33604-MONOMER COXPRESdb 153201 http://coxpresdb.jp/data/gene/153201.shtml CleanEx HS_SLC36A2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC36A2 DOI 10.1007/s00335-003-2319-3 http://dx.doi.org/10.1007/s00335-003-2319-3 DOI 10.1016/S0888-7543(03)00099-5 http://dx.doi.org/10.1016/S0888-7543(03)00099-5 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1172/JCI36625 http://dx.doi.org/10.1172/JCI36625 DrugBank DB00260 http://www.drugbank.ca/drugs/DB00260 EMBL AK122630 http://www.ebi.ac.uk/ena/data/view/AK122630 EMBL AY162214 http://www.ebi.ac.uk/ena/data/view/AY162214 EMBL BC101100 http://www.ebi.ac.uk/ena/data/view/BC101100 EMBL BC101101 http://www.ebi.ac.uk/ena/data/view/BC101101 EMBL BC101102 http://www.ebi.ac.uk/ena/data/view/BC101102 EMBL BC101103 http://www.ebi.ac.uk/ena/data/view/BC101103 EMBL CH471062 http://www.ebi.ac.uk/ena/data/view/CH471062 Ensembl ENST00000335244 http://www.ensembl.org/id/ENST00000335244 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0005280 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005280 GO_function GO:0015078 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015078 GO_function GO:0015171 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015171 GO_function GO:0015180 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015180 GO_function GO:0015187 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015187 GO_function GO:0015193 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015193 GO_process GO:0006811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006811 GO_process GO:0006865 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006865 GO_process GO:0015824 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015824 GO_process GO:0035524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035524 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC36A2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC36A2 GeneID 153201 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=153201 GeneTree ENSGT00390000011245 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000011245 HGNC HGNC:18762 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:18762 HOGENOM HOG000006823 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000006823&db=HOGENOM6 HOVERGEN HBG057183 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG057183&db=HOVERGEN HPA HPA044002 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA044002 HPA HPA062229 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA062229 InParanoid Q495M3 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q495M3 IntAct Q495M3 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q495M3* InterPro IPR013057 http://www.ebi.ac.uk/interpro/entry/IPR013057 Jabion 153201 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=153201 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Disease H00905 http://www.genome.jp/dbget-bin/www_bget?H00905 KEGG_Disease H01304 http://www.genome.jp/dbget-bin/www_bget?H01304 KEGG_Gene hsa:153201 http://www.genome.jp/dbget-bin/www_bget?hsa:153201 KEGG_Orthology KO:K14209 http://www.genome.jp/dbget-bin/www_bget?KO:K14209 MIM 138500 http://www.ncbi.nlm.nih.gov/omim/138500 MIM 242600 http://www.ncbi.nlm.nih.gov/omim/242600 MIM 608331 http://www.ncbi.nlm.nih.gov/omim/608331 OMA CHYNETV http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=CHYNETV Orphanet 42062 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=42062 OrthoDB EOG091G079T http://cegg.unige.ch/orthodb/results?searchtext=EOG091G079T PSORT swissprot:S36A2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S36A2_HUMAN PSORT-B swissprot:S36A2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S36A2_HUMAN PSORT2 swissprot:S36A2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S36A2_HUMAN Pfam PF01490 http://pfam.xfam.org/family/PF01490 PharmGKB PA134899820 http://www.pharmgkb.org/do/serve?objId=PA134899820&objCls=Gene Phobius swissprot:S36A2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S36A2_HUMAN PhylomeDB Q495M3 http://phylomedb.org/?seqid=Q495M3 ProteinModelPortal Q495M3 http://www.proteinmodelportal.org/query/uniprot/Q495M3 PubMed 12809675 http://www.ncbi.nlm.nih.gov/pubmed/12809675 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15058382 http://www.ncbi.nlm.nih.gov/pubmed/15058382 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 19033659 http://www.ncbi.nlm.nih.gov/pubmed/19033659 Reactome R-HSA-352230 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-352230 Reactome R-HSA-428559 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-428559 RefSeq NP_861441 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_861441 RefSeq XP_016864573 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016864573 STRING 9606.ENSP00000334223 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000334223&targetmode=cogs TCDB 2.A.18.8 http://www.tcdb.org/search/result.php?tc=2.A.18.8 UCSC uc003lty http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003lty&org=rat UniGene Hs.483877 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.483877 UniProtKB S36A2_HUMAN http://www.uniprot.org/uniprot/S36A2_HUMAN UniProtKB-AC Q495M3 http://www.uniprot.org/uniprot/Q495M3 charge swissprot:S36A2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S36A2_HUMAN eggNOG COG0814 http://eggnogapi.embl.de/nog_data/html/tree/COG0814 eggNOG KOG1304 http://eggnogapi.embl.de/nog_data/html/tree/KOG1304 epestfind swissprot:S36A2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S36A2_HUMAN garnier swissprot:S36A2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S36A2_HUMAN helixturnhelix swissprot:S36A2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S36A2_HUMAN hmoment swissprot:S36A2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S36A2_HUMAN iep swissprot:S36A2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S36A2_HUMAN inforesidue swissprot:S36A2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S36A2_HUMAN neXtProt NX_Q495M3 http://www.nextprot.org/db/entry/NX_Q495M3 octanol swissprot:S36A2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S36A2_HUMAN pepcoil swissprot:S36A2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S36A2_HUMAN pepdigest swissprot:S36A2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S36A2_HUMAN pepinfo swissprot:S36A2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S36A2_HUMAN pepnet swissprot:S36A2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S36A2_HUMAN pepstats swissprot:S36A2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S36A2_HUMAN pepwheel swissprot:S36A2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S36A2_HUMAN pepwindow swissprot:S36A2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S36A2_HUMAN sigcleave swissprot:S36A2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S36A2_HUMAN ## Database ID URL or Descriptions # ChiTaRS CHRNB2 human # DISEASE ACHB2_HUMAN Epilepsy, nocturnal frontal lobe, 3 (ENFL3) [MIM 605375] An autosomal dominant focal epilepsy characterized by nocturnal seizures with hyperkinetic automatisms and poorly organized stereotyped movements. {ECO 0000269|PubMed 11062464, ECO 0000269|PubMed 11104662}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DrugBank DB00184 Nicotine # DrugBank DB00514 Dextromethorphan # DrugBank DB00674 Galantamine # DrugBank DB00898 Ethanol # Ensembl ENST00000368476 ENSP00000357461; ENSG00000160716 # ExpressionAtlas P17787 baseline and differential # FUNCTION ACHB2_HUMAN After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane permeable to sodiun ions. {ECO 0000269|PubMed 22361591}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005892 acetylcholine-gated channel complex; IDA:UniProtKB. # GO_component GO:0009897 external side of plasma membrane; ISS:UniProtKB. # GO_component GO:0016021 integral component of membrane; NAS:UniProtKB. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0045211 postsynaptic membrane; IEA:UniProtKB-SubCell. # GO_function GO:0004889 acetylcholine-activated cation-selective channel activity; IDA:UniProtKB. # GO_function GO:0008144 drug binding; IEA:Ensembl. # GO_function GO:0015276 ligand-gated ion channel activity; TAS:DFLAT. # GO_function GO:0015464 acetylcholine receptor activity; IDA:UniProtKB. # GO_function GO:0042166 acetylcholine binding; IMP:UniProtKB. # GO_process GO:0001508 action potential; IEA:Ensembl. # GO_process GO:0001661 conditioned taste aversion; IEA:Ensembl. # GO_process GO:0001666 response to hypoxia; IDA:UniProtKB. # GO_process GO:0006811 ion transport; NAS:UniProtKB. # GO_process GO:0006816 calcium ion transport; ISS:UniProtKB. # GO_process GO:0006939 smooth muscle contraction; ISS:UniProtKB. # GO_process GO:0007165 signal transduction; IDA:UniProtKB. # GO_process GO:0007271 synaptic transmission, cholinergic; ISS:UniProtKB. # GO_process GO:0007274 neuromuscular synaptic transmission; IBA:GO_Central. # GO_process GO:0007601 visual perception; ISS:UniProtKB. # GO_process GO:0007605 sensory perception of sound; ISS:UniProtKB. # GO_process GO:0007612 learning; IMP:UniProtKB. # GO_process GO:0007613 memory; IMP:UniProtKB. # GO_process GO:0007626 locomotory behavior; ISS:UniProtKB. # GO_process GO:0008306 associative learning; ISS:UniProtKB. # GO_process GO:0008542 visual learning; IMP:UniProtKB. # GO_process GO:0014059 regulation of dopamine secretion; ISS:UniProtKB. # GO_process GO:0019233 sensory perception of pain; ISS:UniProtKB. # GO_process GO:0021562 vestibulocochlear nerve development; ISS:UniProtKB. # GO_process GO:0021631 optic nerve morphogenesis; ISS:UniProtKB. # GO_process GO:0021771 lateral geniculate nucleus development; ISS:UniProtKB. # GO_process GO:0021952 central nervous system projection neuron axonogenesis; ISS:UniProtKB. # GO_process GO:0030890 positive regulation of B cell proliferation; ISS:UniProtKB. # GO_process GO:0032225 regulation of synaptic transmission, dopaminergic; ISS:UniProtKB. # GO_process GO:0032226 positive regulation of synaptic transmission, dopaminergic; IEA:Ensembl. # GO_process GO:0033603 positive regulation of dopamine secretion; ISS:UniProtKB. # GO_process GO:0035094 response to nicotine; IDA:UniProtKB. # GO_process GO:0035095 behavioral response to nicotine; IMP:UniProtKB. # GO_process GO:0035176 social behavior; ISS:UniProtKB. # GO_process GO:0042053 regulation of dopamine metabolic process; ISS:UniProtKB. # GO_process GO:0042113 B cell activation; ISS:UniProtKB. # GO_process GO:0042220 response to cocaine; ISS:UniProtKB. # GO_process GO:0042320 regulation of circadian sleep/wake cycle, REM sleep; ISS:UniProtKB. # GO_process GO:0045188 regulation of circadian sleep/wake cycle, non-REM sleep; IEA:Ensembl. # GO_process GO:0045471 response to ethanol; ISS:UniProtKB. # GO_process GO:0045759 negative regulation of action potential; ISS:UniProtKB. # GO_process GO:0048814 regulation of dendrite morphogenesis; ISS:UniProtKB. # GO_process GO:0050877 neurological system process; IMP:UniProtKB. # GO_process GO:0050890 cognition; IMP:UniProtKB. # GO_process GO:0051291 protein heterooligomerization; IEA:Ensembl. # GO_process GO:0051899 membrane depolarization; ISS:UniProtKB. # GO_process GO:0051963 regulation of synapse assembly; ISS:UniProtKB. # GO_process GO:0060084 synaptic transmission involved in micturition; ISS:UniProtKB. # GO_process GO:0095500 acetylcholine receptor signaling pathway; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0002376 immune system process # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0050877 neurological system process # Gene3D 1.20.120.370 -; 2. # Gene3D 2.70.170.10 -; 1. # Genevisible P17787 HS # HGNC HGNC:1962 CHRNB2 # INTERACTION ACHB2_HUMAN P30532 CHRNA5; NbExp=3; IntAct=EBI-9008612, EBI-6657490; # IntAct P17787 3 # InterPro IPR002394 Nicotinic_acetylcholine_rcpt # InterPro IPR006029 Neurotrans-gated_channel_TM # InterPro IPR006201 Neur_channel # InterPro IPR006202 Neur_chan_lig-bd # InterPro IPR018000 Neurotransmitter_ion_chnl_CS # InterPro IPR027361 Acetylcholine_rcpt_TM # InterPro IPR032932 CHRNB2 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00807 [Nervous system disease] Nocturnal frontal lobe epilepsy (NFLE) # KEGG_Pathway ko04080 Neuroactive ligand-receptor interaction # KEGG_Pathway ko04725 Cholinergic synapse # KEGG_Pathway ko05033 Nicotine addiction # MIM 118507 gene # MIM 605375 phenotype # Organism ACHB2_HUMAN Homo sapiens (Human) # Orphanet 98784 Autosomal dominant nocturnal frontal lobe epilepsy # PANTHER PTHR18945 PTHR18945; 2 # PANTHER PTHR18945:SF80 PTHR18945:SF80; 2 # PDB 2GVT Model; -; B/D/E=30-233 # PDB 2K58 NMR; -; B=231-265 # PDB 2K59 NMR; -; B=264-291 # PDB 2KSR NMR; -; A=231-330, A=453-486 # PDB 2LM2 NMR; -; A=231-330, A=458-485 # PDB 5KXI X-ray; 3.94 A; B/C/E=26-355, B/C/E=446-502 # PIR S10505 S10505 # PRINTS PR00252 NRIONCHANNEL # PRINTS PR00254 NICOTINICR # PROSITE PS00236 NEUROTR_ION_CHANNEL # Pfam PF02931 Neur_chan_LBD # Pfam PF02932 Neur_chan_memb # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-629587 Highly sodium permeable acetylcholine nicotinic receptors # Reactome R-HSA-629594 Highly calcium permeable postsynaptic nicotinic acetylcholine receptors # Reactome R-HSA-629597 Highly calcium permeable nicotinic acetylcholine receptors # RecName ACHB2_HUMAN Neuronal acetylcholine receptor subunit beta-2 # RefSeq NP_000739 NM_000748.2 # SIMILARITY Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Beta- 2/CHRNB2 sub-subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION ACHB2_HUMAN Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. # SUBUNIT ACHB2_HUMAN Neuronal AChR is composed of two different types of subunits alpha and beta. Beta-2 subunit can be combined to alpha- 2, alpha-3 or alpha-4 to give rise to functional receptors, complexes with beta-2 may be heteropentamers. Interacts with RIC3; which is required for proper folding and assembly. {ECO 0000269|PubMed 16120769, ECO 0000269|PubMed 22361591}. # SUPFAM SSF63712 SSF63712 # SUPFAM SSF90112 SSF90112 # TCDB 1.A.9.1 the neurotransmitter receptor, cys loop, ligand-gated ion channel (lic) family # TIGRFAMs TIGR00860 LIC # eggNOG ENOG410XQGR LUCA # eggNOG KOG3645 Eukaryota BLAST swissprot:ACHB2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ACHB2_HUMAN BioCyc ZFISH:ENSG00000160716-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000160716-MONOMER COXPRESdb 1141 http://coxpresdb.jp/data/gene/1141.shtml CleanEx HS_CHRNB2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CHRNB2 DOI 10.1007/BF02736842 http://dx.doi.org/10.1007/BF02736842 DOI 10.1007/s003359901111 http://dx.doi.org/10.1007/s003359901111 DOI 10.1007/s004390050885 http://dx.doi.org/10.1007/s004390050885 DOI 10.1016/S0014-5793(96)01383-X http://dx.doi.org/10.1016/S0014-5793(96)01383-X DOI 10.1016/j.bbamem.2010.04.014 http://dx.doi.org/10.1016/j.bbamem.2010.04.014 DOI 10.1016/j.bbamem.2012.02.008 http://dx.doi.org/10.1016/j.bbamem.2012.02.008 DOI 10.1038/81566 http://dx.doi.org/10.1038/81566 DOI 10.1080/14622200110098419 http://dx.doi.org/10.1080/14622200110098419 DOI 10.1086/316946 http://dx.doi.org/10.1086/316946 DOI 10.1093/nar/18.14.4272 http://dx.doi.org/10.1093/nar/18.14.4272 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1124/mol.105.017459 http://dx.doi.org/10.1124/mol.105.017459 DrugBank DB00184 http://www.drugbank.ca/drugs/DB00184 DrugBank DB00514 http://www.drugbank.ca/drugs/DB00514 DrugBank DB00674 http://www.drugbank.ca/drugs/DB00674 DrugBank DB00898 http://www.drugbank.ca/drugs/DB00898 EMBL AF077186 http://www.ebi.ac.uk/ena/data/view/AF077186 EMBL AJ001935 http://www.ebi.ac.uk/ena/data/view/AJ001935 EMBL AJ001936 http://www.ebi.ac.uk/ena/data/view/AJ001936 EMBL AJ001937 http://www.ebi.ac.uk/ena/data/view/AJ001937 EMBL AJ001938 http://www.ebi.ac.uk/ena/data/view/AJ001938 EMBL AJ001939 http://www.ebi.ac.uk/ena/data/view/AJ001939 EMBL BC075040 http://www.ebi.ac.uk/ena/data/view/BC075040 EMBL BC075041 http://www.ebi.ac.uk/ena/data/view/BC075041 EMBL U62437 http://www.ebi.ac.uk/ena/data/view/U62437 EMBL X53179 http://www.ebi.ac.uk/ena/data/view/X53179 EMBL Y08415 http://www.ebi.ac.uk/ena/data/view/Y08415 Ensembl ENST00000368476 http://www.ensembl.org/id/ENST00000368476 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005892 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005892 GO_component GO:0009897 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009897 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0045211 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045211 GO_function GO:0004889 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004889 GO_function GO:0008144 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008144 GO_function GO:0015276 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015276 GO_function GO:0015464 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015464 GO_function GO:0042166 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042166 GO_process GO:0001508 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001508 GO_process GO:0001661 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001661 GO_process GO:0001666 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001666 GO_process GO:0006811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006811 GO_process GO:0006816 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006816 GO_process GO:0006939 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006939 GO_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GO_process GO:0007271 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007271 GO_process GO:0007274 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007274 GO_process GO:0007601 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007601 GO_process GO:0007605 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007605 GO_process GO:0007612 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007612 GO_process GO:0007613 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007613 GO_process GO:0007626 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007626 GO_process GO:0008306 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008306 GO_process GO:0008542 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008542 GO_process GO:0014059 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014059 GO_process GO:0019233 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019233 GO_process GO:0021562 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021562 GO_process GO:0021631 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021631 GO_process GO:0021771 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021771 GO_process GO:0021952 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021952 GO_process GO:0030890 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030890 GO_process GO:0032225 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032225 GO_process GO:0032226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032226 GO_process GO:0033603 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033603 GO_process GO:0035094 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035094 GO_process GO:0035095 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035095 GO_process GO:0035176 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035176 GO_process GO:0042053 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042053 GO_process GO:0042113 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042113 GO_process GO:0042220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042220 GO_process GO:0042320 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042320 GO_process GO:0045188 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045188 GO_process GO:0045471 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045471 GO_process GO:0045759 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045759 GO_process GO:0048814 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048814 GO_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GO_process GO:0050890 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050890 GO_process GO:0051291 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051291 GO_process GO:0051899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051899 GO_process GO:0051963 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051963 GO_process GO:0060084 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060084 GO_process GO:0095500 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0095500 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0002376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002376 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 Gene3D 1.20.120.370 http://www.cathdb.info/version/latest/superfamily/1.20.120.370 Gene3D 2.70.170.10 http://www.cathdb.info/version/latest/superfamily/2.70.170.10 GeneCards CHRNB2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CHRNB2 GeneID 1141 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=1141 GeneTree ENSGT00760000118930 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118930 HGNC HGNC:1962 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:1962 HOGENOM HOG000006757 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000006757&db=HOGENOM6 HOVERGEN HBG003756 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG003756&db=HOVERGEN InParanoid P17787 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P17787 IntAct P17787 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P17787* InterPro IPR002394 http://www.ebi.ac.uk/interpro/entry/IPR002394 InterPro IPR006029 http://www.ebi.ac.uk/interpro/entry/IPR006029 InterPro IPR006201 http://www.ebi.ac.uk/interpro/entry/IPR006201 InterPro IPR006202 http://www.ebi.ac.uk/interpro/entry/IPR006202 InterPro IPR018000 http://www.ebi.ac.uk/interpro/entry/IPR018000 InterPro IPR027361 http://www.ebi.ac.uk/interpro/entry/IPR027361 InterPro IPR032932 http://www.ebi.ac.uk/interpro/entry/IPR032932 Jabion 1141 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=1141 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00807 http://www.genome.jp/dbget-bin/www_bget?H00807 KEGG_Gene hsa:1141 http://www.genome.jp/dbget-bin/www_bget?hsa:1141 KEGG_Orthology KO:K04813 http://www.genome.jp/dbget-bin/www_bget?KO:K04813 KEGG_Pathway ko04080 http://www.genome.jp/kegg-bin/show_pathway?ko04080 KEGG_Pathway ko04725 http://www.genome.jp/kegg-bin/show_pathway?ko04725 KEGG_Pathway ko05033 http://www.genome.jp/kegg-bin/show_pathway?ko05033 MIM 118507 http://www.ncbi.nlm.nih.gov/omim/118507 MIM 605375 http://www.ncbi.nlm.nih.gov/omim/605375 MINT MINT-6629945 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-6629945 OMA KEDSDPC http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=KEDSDPC Orphanet 98784 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=98784 OrthoDB EOG091G0R20 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0R20 PANTHER PTHR18945 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR18945 PANTHER PTHR18945:SF80 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR18945:SF80 PDB 2GVT http://www.ebi.ac.uk/pdbe-srv/view/entry/2GVT PDB 2K58 http://www.ebi.ac.uk/pdbe-srv/view/entry/2K58 PDB 2K59 http://www.ebi.ac.uk/pdbe-srv/view/entry/2K59 PDB 2KSR http://www.ebi.ac.uk/pdbe-srv/view/entry/2KSR PDB 2LM2 http://www.ebi.ac.uk/pdbe-srv/view/entry/2LM2 PDB 5KXI http://www.ebi.ac.uk/pdbe-srv/view/entry/5KXI PDBsum 2GVT http://www.ebi.ac.uk/pdbsum/2GVT PDBsum 2K58 http://www.ebi.ac.uk/pdbsum/2K58 PDBsum 2K59 http://www.ebi.ac.uk/pdbsum/2K59 PDBsum 2KSR http://www.ebi.ac.uk/pdbsum/2KSR PDBsum 2LM2 http://www.ebi.ac.uk/pdbsum/2LM2 PDBsum 5KXI http://www.ebi.ac.uk/pdbsum/5KXI PRINTS PR00252 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00252 PRINTS PR00254 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00254 PROSITE PS00236 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00236 PSORT swissprot:ACHB2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ACHB2_HUMAN PSORT-B swissprot:ACHB2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ACHB2_HUMAN PSORT2 swissprot:ACHB2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ACHB2_HUMAN Pfam PF02931 http://pfam.xfam.org/family/PF02931 Pfam PF02932 http://pfam.xfam.org/family/PF02932 PharmGKB PA115 http://www.pharmgkb.org/do/serve?objId=PA115&objCls=Gene Phobius swissprot:ACHB2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ACHB2_HUMAN PhylomeDB P17787 http://phylomedb.org/?seqid=P17787 ProteinModelPortal P17787 http://www.proteinmodelportal.org/query/uniprot/P17787 PubMed 10441742 http://www.ncbi.nlm.nih.gov/pubmed/10441742 PubMed 11062464 http://www.ncbi.nlm.nih.gov/pubmed/11062464 PubMed 11104662 http://www.ncbi.nlm.nih.gov/pubmed/11104662 PubMed 11906688 http://www.ncbi.nlm.nih.gov/pubmed/11906688 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16120769 http://www.ncbi.nlm.nih.gov/pubmed/16120769 PubMed 20441771 http://www.ncbi.nlm.nih.gov/pubmed/20441771 PubMed 22361591 http://www.ncbi.nlm.nih.gov/pubmed/22361591 PubMed 2377478 http://www.ncbi.nlm.nih.gov/pubmed/2377478 PubMed 8906617 http://www.ncbi.nlm.nih.gov/pubmed/8906617 PubMed 9009220 http://www.ncbi.nlm.nih.gov/pubmed/9009220 PubMed 9921897 http://www.ncbi.nlm.nih.gov/pubmed/9921897 Reactome R-HSA-629587 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-629587 Reactome R-HSA-629594 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-629594 Reactome R-HSA-629597 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-629597 RefSeq NP_000739 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000739 SMR P17787 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P17787 STRING 9606.ENSP00000357461 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000357461&targetmode=cogs SUPFAM SSF63712 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF63712 SUPFAM SSF90112 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF90112 TCDB 1.A.9.1 http://www.tcdb.org/search/result.php?tc=1.A.9.1 TIGRFAMs TIGR00860 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00860 UniGene Hs.2306 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.2306 UniProtKB ACHB2_HUMAN http://www.uniprot.org/uniprot/ACHB2_HUMAN UniProtKB-AC P17787 http://www.uniprot.org/uniprot/P17787 charge swissprot:ACHB2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ACHB2_HUMAN eggNOG ENOG410XQGR http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XQGR eggNOG KOG3645 http://eggnogapi.embl.de/nog_data/html/tree/KOG3645 epestfind swissprot:ACHB2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ACHB2_HUMAN garnier swissprot:ACHB2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ACHB2_HUMAN helixturnhelix swissprot:ACHB2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ACHB2_HUMAN hmoment swissprot:ACHB2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ACHB2_HUMAN iep swissprot:ACHB2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ACHB2_HUMAN inforesidue swissprot:ACHB2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ACHB2_HUMAN neXtProt NX_P17787 http://www.nextprot.org/db/entry/NX_P17787 octanol swissprot:ACHB2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ACHB2_HUMAN pepcoil swissprot:ACHB2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ACHB2_HUMAN pepdigest swissprot:ACHB2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ACHB2_HUMAN pepinfo swissprot:ACHB2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ACHB2_HUMAN pepnet swissprot:ACHB2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ACHB2_HUMAN pepstats swissprot:ACHB2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ACHB2_HUMAN pepwheel swissprot:ACHB2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ACHB2_HUMAN pepwindow swissprot:ACHB2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ACHB2_HUMAN sigcleave swissprot:ACHB2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ACHB2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS SCN1B_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=Beta-1; IsoId=Q07699-1; Sequence=Displayed; Name=2; Synonyms=Beta-1B, beta1A, beta1B; IsoId=Q07699-2; Sequence=VSP_041982; Note=Due to intron 3 retention.; # BioGrid 112229 2 # CCDS CCDS12441 -. [Q07699-1] # CCDS CCDS46047 -. [Q07699-2] # DISEASE SCN1B_HUMAN Atrial fibrillation, familial, 13 (ATFB13) [MIM 615377] A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. {ECO 0000269|PubMed 19808477}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE SCN1B_HUMAN Brugada syndrome 5 (BRGDA5) [MIM 612838] A tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset. {ECO 0000269|PubMed 18464934}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE SCN1B_HUMAN Generalized epilepsy with febrile seizures plus 1 (GEFS+1) [MIM 604233] A rare autosomal dominant, familial condition with incomplete penetrance and large intrafamilial variability. Patients display febrile seizures persisting sometimes beyond the age of 6 years and/or a variety of afebrile seizure types. This disease combines febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity. {ECO 0000269|PubMed 17928445, ECO 0000269|PubMed 21040232, ECO 0000269|PubMed 9697698}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DrugBank DB00313 Valproic Acid # DrugBank DB00909 Zonisamide # Ensembl ENST00000262631 ENSP00000262631; ENSG00000105711. [Q07699-1] # Ensembl ENST00000415950 ENSP00000396915; ENSG00000105711. [Q07699-2] # ExpressionAtlas Q07699 baseline and differential # FUNCTION SCN1B_HUMAN Crucial in the assembly, expression, and functional modulation of the heterotrimeric complex of the sodium channel. The subunit beta-1 can modulate multiple alpha subunit isoforms from brain, skeletal muscle, and heart. Its association with neurofascin may target the sodium channels to the nodes of Ranvier of developing axons and retain these channels at the nodes in mature myelinated axons. {ECO 0000269|PubMed 14622265}. # FUNCTION SCN1B_HUMAN Isoform 2 Cell adhesion molecule that plays a critical role in neuronal migration and pathfinding during brain development. Stimulates neurite outgrowth. {ECO 0000269|PubMed 14622265}. # GO_component GO:0001518 voltage-gated sodium channel complex; IDA:BHF-UCL. # GO_component GO:0005576 extracellular region; IEA:UniProtKB-SubCell. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0014704 intercalated disc; ISS:BHF-UCL. # GO_component GO:0030315 T-tubule; ISS:BHF-UCL. # GO_component GO:0033268 node of Ranvier; ISS:BHF-UCL. # GO_function GO:0005248 voltage-gated sodium channel activity; IDA:BHF-UCL. # GO_function GO:0017080 sodium channel regulator activity; IDA:BHF-UCL. # GO_function GO:0019871 sodium channel inhibitor activity; ISS:BHF-UCL. # GO_function GO:0086006 voltage-gated sodium channel activity involved in cardiac muscle cell action potential; IMP:BHF-UCL. # GO_function GO:0086062 voltage-gated sodium channel activity involved in Purkinje myocyte action potential; IMP:BHF-UCL. # GO_process GO:0007155 cell adhesion; IEA:UniProtKB-KW. # GO_process GO:0007268 chemical synaptic transmission; TAS:ProtInc. # GO_process GO:0007411 axon guidance; ISS:BHF-UCL. # GO_process GO:0010765 positive regulation of sodium ion transport; IDA:BHF-UCL. # GO_process GO:0010976 positive regulation of neuron projection development; ISS:BHF-UCL. # GO_process GO:0019227 neuronal action potential propagation; ISS:BHF-UCL. # GO_process GO:0021966 corticospinal neuron axon guidance; ISS:BHF-UCL. # GO_process GO:0035725 sodium ion transmembrane transport; IDA:BHF-UCL. # GO_process GO:0040011 locomotion; ISS:BHF-UCL. # GO_process GO:0046684 response to pyrethroid; IEA:Ensembl. # GO_process GO:0051899 membrane depolarization; IDA:BHF-UCL. # GO_process GO:0060048 cardiac muscle contraction; IMP:BHF-UCL. # GO_process GO:0060307 regulation of ventricular cardiac muscle cell membrane repolarization; ISS:BHF-UCL. # GO_process GO:0060371 regulation of atrial cardiac muscle cell membrane depolarization; IMP:BHF-UCL. # GO_process GO:0061337 cardiac conduction; ISS:BHF-UCL. # GO_process GO:0086002 cardiac muscle cell action potential involved in contraction; IMP:BHF-UCL. # GO_process GO:0086012 membrane depolarization during cardiac muscle cell action potential; ISS:BHF-UCL. # GO_process GO:0086047 membrane depolarization during Purkinje myocyte cell action potential; IMP:BHF-UCL. # GO_process GO:0086091 regulation of heart rate by cardiac conduction; IMP:BHF-UCL. # GO_process GO:2000649 regulation of sodium ion transmembrane transporter activity; IDA:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005576 extracellular region # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0007155 cell adhesion # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # GOslim_process GO:0040011 locomotion # GOslim_process GO:0050877 neurological system process # GOslim_process GO:0055085 transmembrane transport # Gene3D 2.60.40.10 -; 1. # Genevisible Q07699 HS # HGNC HGNC:10586 SCN1B # InterPro IPR007110 Ig-like_dom # InterPro IPR013106 Ig_V-set # InterPro IPR013783 Ig-like_fold # InterPro IPR027098 Na_channel_b1/b3 # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00728 [Cardiovascular disease] Brugada syndrome (BRS) # KEGG_Disease H00783 [Nervous system disease; Epilepsy] Dravet syndrome/ Severe myoclonic epilepsy in infancy (SMEI) # MIM 600235 gene # MIM 604233 phenotype # MIM 612838 phenotype # MIM 615377 phenotype # Organism SCN1B_HUMAN Homo sapiens (Human) # Orphanet 130 Brugada syndrome # Orphanet 33069 Dravet syndrome # Orphanet 36387 Generalized epilepsy with febrile seizures-plus # Orphanet 871 Familial progressive cardiac conduction defect # PANTHER PTHR10546 PTHR10546 # PIR A55734 A55734 # Pfam PF07686 V-set # Proteomes UP000005640 Chromosome 19 # Reactome R-HSA-445095 Interaction between L1 and Ankyrins # Reactome R-HSA-5576892 Phase 0 - rapid depolarisation # RecName SCN1B_HUMAN Sodium channel subunit beta-1 # RefSeq NP_001028 NM_001037.4. [Q07699-1] # RefSeq NP_001308534 NM_001321605.1 # RefSeq NP_950238 NM_199037.4. [Q07699-2] # SIMILARITY Belongs to the sodium channel auxiliary subunit SCN1B (TC 8.A.17) family. {ECO 0000305}. # SIMILARITY Contains 1 Ig-like C2-type (immunoglobulin-like) domain. {ECO 0000305}. # SUBCELLULAR LOCATION SCN1B_HUMAN Isoform 1 Cell membrane {ECO 0000269|PubMed 17928445, ECO 0000305|PubMed 8125980}; Single- pass type I membrane protein {ECO 0000255, ECO 0000305|PubMed 8125980}. # SUBCELLULAR LOCATION SCN1B_HUMAN Isoform 2 Secreted {ECO 0000269|PubMed 21994374}. # SUBUNIT SCN1B_HUMAN The voltage-sensitive sodium channel consists of an ion conducting pore forming alpha-subunit regulated by one or more beta-1, beta-2 and beta-3. Beta-1 and beta-3 are non-covalently associated with alpha, while beta-2 is covalently linked by disulfide bonds. Beta-1 or beta-3 subunits associate with neurofascin. Associates with SCN10A (By similarity). Interacts with SCN1A (PubMed 15525788, PubMed 17928445). Interacts with SCN8A (PubMed 26900580). {ECO 0000250|UniProtKB Q00954, ECO 0000269|PubMed 15525788, ECO 0000269|PubMed 17928445, ECO 0000269|PubMed 26900580}. # SUPFAM SSF48726 SSF48726 # TISSUE SPECIFICITY The overall expression of isoforms 1 and 2 is very similar. Isoform 1 is abundantly expressed in skeletal muscle, heart and brain. Isoform 2 is highly expressed in brain and skeletal muscle and present at a very low level in heart, placenta, lung, liver, kidney and pancreas. In brain, isoform 2 is most abundant in the cerebellum, followed by the cerebral cortex and occipital lobe, while isoform 1 levels are higher in the cortex compared to the cerebellum. Isoform 2 is expressed in many regions of the brain, including cerebellar Purkinje cells, cortex pyramidal neurons and many of the neuronal fibers throughout the brain (at protein level). Also detected in dorsal root ganglion, in fibers of the spinal nerve and in cortical neurons and their processes (at protein level). {ECO:0000269|PubMed 14622265}. # UCSC uc002nxo human. [Q07699-1] # eggNOG ENOG410IVI4 Eukaryota # eggNOG ENOG4111MS0 LUCA BLAST swissprot:SCN1B_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SCN1B_HUMAN COXPRESdb 6324 http://coxpresdb.jp/data/gene/6324.shtml CleanEx HS_SCN1B http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SCN1B DOI 10.1002/acn3.276 http://dx.doi.org/10.1002/acn3.276 DOI 10.1006/geno.1994.1551 http://dx.doi.org/10.1006/geno.1994.1551 DOI 10.1038/1252 http://dx.doi.org/10.1038/1252 DOI 10.1038/nature02399 http://dx.doi.org/10.1038/nature02399 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1046/j.1432-1033.2003.03878.x http://dx.doi.org/10.1046/j.1432-1033.2003.03878.x DOI 10.1093/hmg/2.6.745 http://dx.doi.org/10.1093/hmg/2.6.745 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1399-0004.2009.01155.x http://dx.doi.org/10.1111/j.1399-0004.2009.01155.x DOI 10.1111/j.1468-1331.2010.03216.x http://dx.doi.org/10.1111/j.1468-1331.2010.03216.x DOI 10.1161/CIRCEP.108.779181 http://dx.doi.org/10.1161/CIRCEP.108.779181 DOI 10.1172/JCI33891 http://dx.doi.org/10.1172/JCI33891 DOI 10.1523/JNEUROSCI.0361-11.2011 http://dx.doi.org/10.1523/JNEUROSCI.0361-11.2011 DOI 10.1523/JNEUROSCI.2034-04.2004 http://dx.doi.org/10.1523/JNEUROSCI.2034-04.2004 DOI 10.1523/JNEUROSCI.3515-07.2007 http://dx.doi.org/10.1523/JNEUROSCI.3515-07.2007 DrugBank DB00313 http://www.drugbank.ca/drugs/DB00313 DrugBank DB00909 http://www.drugbank.ca/drugs/DB00909 EMBL AC020907 http://www.ebi.ac.uk/ena/data/view/AC020907 EMBL AK313279 http://www.ebi.ac.uk/ena/data/view/AK313279 EMBL AY391842 http://www.ebi.ac.uk/ena/data/view/AY391842 EMBL BC067122 http://www.ebi.ac.uk/ena/data/view/BC067122 EMBL BT019923 http://www.ebi.ac.uk/ena/data/view/BT019923 EMBL DQ677665 http://www.ebi.ac.uk/ena/data/view/DQ677665 EMBL L10338 http://www.ebi.ac.uk/ena/data/view/L10338 EMBL L16242 http://www.ebi.ac.uk/ena/data/view/L16242 EMBL U12189 http://www.ebi.ac.uk/ena/data/view/U12189 EMBL U12190 http://www.ebi.ac.uk/ena/data/view/U12190 EMBL U12191 http://www.ebi.ac.uk/ena/data/view/U12191 EMBL U12192 http://www.ebi.ac.uk/ena/data/view/U12192 EMBL U12193 http://www.ebi.ac.uk/ena/data/view/U12193 Ensembl ENST00000262631 http://www.ensembl.org/id/ENST00000262631 Ensembl ENST00000415950 http://www.ensembl.org/id/ENST00000415950 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0001518 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001518 GO_component GO:0005576 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005576 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0014704 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014704 GO_component GO:0030315 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030315 GO_component GO:0033268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033268 GO_function GO:0005248 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005248 GO_function GO:0017080 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0017080 GO_function GO:0019871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019871 GO_function GO:0086006 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086006 GO_function GO:0086062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086062 GO_process GO:0007155 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007155 GO_process GO:0007268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007268 GO_process GO:0007411 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007411 GO_process GO:0010765 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010765 GO_process GO:0010976 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010976 GO_process GO:0019227 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019227 GO_process GO:0021966 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021966 GO_process GO:0035725 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035725 GO_process GO:0040011 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0040011 GO_process GO:0046684 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046684 GO_process GO:0051899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051899 GO_process GO:0060048 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060048 GO_process GO:0060307 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060307 GO_process GO:0060371 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060371 GO_process GO:0061337 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061337 GO_process GO:0086002 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086002 GO_process GO:0086012 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086012 GO_process GO:0086047 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086047 GO_process GO:0086091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086091 GO_process GO:2000649 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000649 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005576 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005576 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0007155 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007155 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0040011 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0040011 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 2.60.40.10 http://www.cathdb.info/version/latest/superfamily/2.60.40.10 GeneCards SCN1B http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SCN1B GeneID 6324 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6324 GeneTree ENSGT00390000018560 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000018560 HGNC HGNC:10586 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10586 HOGENOM HOG000276881 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000276881&db=HOGENOM6 HOVERGEN HBG056582 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG056582&db=HOVERGEN HPA CAB032824 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB032824 InParanoid Q07699 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q07699 InterPro IPR007110 http://www.ebi.ac.uk/interpro/entry/IPR007110 InterPro IPR013106 http://www.ebi.ac.uk/interpro/entry/IPR013106 InterPro IPR013783 http://www.ebi.ac.uk/interpro/entry/IPR013783 InterPro IPR027098 http://www.ebi.ac.uk/interpro/entry/IPR027098 Jabion 6324 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6324 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00728 http://www.genome.jp/dbget-bin/www_bget?H00728 KEGG_Disease H00783 http://www.genome.jp/dbget-bin/www_bget?H00783 KEGG_Gene hsa:6324 http://www.genome.jp/dbget-bin/www_bget?hsa:6324 KEGG_Orthology KO:K04845 http://www.genome.jp/dbget-bin/www_bget?KO:K04845 MIM 600235 http://www.ncbi.nlm.nih.gov/omim/600235 MIM 604233 http://www.ncbi.nlm.nih.gov/omim/604233 MIM 612838 http://www.ncbi.nlm.nih.gov/omim/612838 MIM 615377 http://www.ncbi.nlm.nih.gov/omim/615377 OMA ISCKKRS http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=ISCKKRS Orphanet 130 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=130 Orphanet 33069 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=33069 Orphanet 36387 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=36387 Orphanet 871 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=871 OrthoDB EOG091G0OF7 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0OF7 PANTHER PTHR10546 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10546 PSORT swissprot:SCN1B_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SCN1B_HUMAN PSORT-B swissprot:SCN1B_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SCN1B_HUMAN PSORT2 swissprot:SCN1B_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SCN1B_HUMAN Pfam PF07686 http://pfam.xfam.org/family/PF07686 PharmGKB PA302 http://www.pharmgkb.org/do/serve?objId=PA302&objCls=Gene Phobius swissprot:SCN1B_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SCN1B_HUMAN PhylomeDB Q07699 http://phylomedb.org/?seqid=Q07699 ProteinModelPortal Q07699 http://www.proteinmodelportal.org/query/uniprot/Q07699 PubMed 14622265 http://www.ncbi.nlm.nih.gov/pubmed/14622265 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15057824 http://www.ncbi.nlm.nih.gov/pubmed/15057824 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15525788 http://www.ncbi.nlm.nih.gov/pubmed/15525788 PubMed 17928445 http://www.ncbi.nlm.nih.gov/pubmed/17928445 PubMed 18464934 http://www.ncbi.nlm.nih.gov/pubmed/18464934 PubMed 19522081 http://www.ncbi.nlm.nih.gov/pubmed/19522081 PubMed 19808477 http://www.ncbi.nlm.nih.gov/pubmed/19808477 PubMed 21040232 http://www.ncbi.nlm.nih.gov/pubmed/21040232 PubMed 21994374 http://www.ncbi.nlm.nih.gov/pubmed/21994374 PubMed 26900580 http://www.ncbi.nlm.nih.gov/pubmed/26900580 PubMed 7851891 http://www.ncbi.nlm.nih.gov/pubmed/7851891 PubMed 8125980 http://www.ncbi.nlm.nih.gov/pubmed/8125980 PubMed 8394762 http://www.ncbi.nlm.nih.gov/pubmed/8394762 PubMed 9697698 http://www.ncbi.nlm.nih.gov/pubmed/9697698 Reactome R-HSA-445095 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-445095 Reactome R-HSA-5576892 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576892 RefSeq NP_001028 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001028 RefSeq NP_001308534 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001308534 RefSeq NP_950238 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_950238 SMR Q07699 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q07699 STRING 9606.ENSP00000396915 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000396915&targetmode=cogs SUPFAM SSF48726 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48726 UCSC uc002nxo http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002nxo&org=rat UniGene Hs.436646 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.436646 UniProtKB SCN1B_HUMAN http://www.uniprot.org/uniprot/SCN1B_HUMAN UniProtKB-AC Q07699 http://www.uniprot.org/uniprot/Q07699 charge swissprot:SCN1B_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SCN1B_HUMAN eggNOG ENOG410IVI4 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IVI4 eggNOG ENOG4111MS0 http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111MS0 epestfind swissprot:SCN1B_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SCN1B_HUMAN garnier swissprot:SCN1B_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SCN1B_HUMAN helixturnhelix swissprot:SCN1B_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SCN1B_HUMAN hmoment swissprot:SCN1B_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SCN1B_HUMAN iep swissprot:SCN1B_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SCN1B_HUMAN inforesidue swissprot:SCN1B_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SCN1B_HUMAN neXtProt NX_Q07699 http://www.nextprot.org/db/entry/NX_Q07699 octanol swissprot:SCN1B_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SCN1B_HUMAN pepcoil swissprot:SCN1B_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SCN1B_HUMAN pepdigest swissprot:SCN1B_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SCN1B_HUMAN pepinfo swissprot:SCN1B_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SCN1B_HUMAN pepnet swissprot:SCN1B_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SCN1B_HUMAN pepstats swissprot:SCN1B_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SCN1B_HUMAN pepwheel swissprot:SCN1B_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SCN1B_HUMAN pepwindow swissprot:SCN1B_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SCN1B_HUMAN sigcleave swissprot:SCN1B_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SCN1B_HUMAN ## Database ID URL or Descriptions # AltName ORAI3_HUMAN Transmembrane protein 142C # ChiTaRS ORAI3 human # Ensembl ENST00000318663 ENSP00000322249; ENSG00000175938 # ExpressionAtlas Q9BRQ5 baseline and differential # FUNCTION ORAI3_HUMAN Key regulator or component of store-operated Ca(2+) channel and transcription factor NFAT nuclear import. {ECO 0000250}. # GO_component GO:0016020 membrane; IBA:GO_Central. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0015279 store-operated calcium channel activity; IBA:GO_Central. # GO_process GO:0002115 store-operated calcium entry; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # Genevisible Q9BRQ5 HS # HGNC HGNC:28185 ORAI3 # INTERACTION ORAI3_HUMAN Q96D31 ORAI1; NbExp=3; IntAct=EBI-4279484, EBI-2291476; # IntAct Q9BRQ5 2 # InterPro IPR012446 CRAC_channel # InterPro IPR030032 Orai-3 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Pathway ko04020 Calcium signaling pathway # MIM 610930 gene # Organism ORAI3_HUMAN Homo sapiens (Human) # PANTHER PTHR31501 PTHR31501; 2 # PANTHER PTHR31501:SF6 PTHR31501:SF6; 2 # Pfam PF07856 Orai-1 # Proteomes UP000005640 Chromosome 16 # RecName ORAI3_HUMAN Protein orai-3 # RefSeq NP_689501 NM_152288.2 # SIMILARITY Belongs to the Orai family. {ECO 0000305}. # SUBCELLULAR LOCATION ORAI3_HUMAN Membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. # SUBUNIT Interacts with CRACR2A/EFCAB4B. {ECO:0000269|PubMed 20418871}. # TCDB 1.A.52.1 the ca(2+) release-activated ca(2+) (crac) channel (crac-c) family # UCSC uc002eac human # eggNOG ENOG4110DSB LUCA # eggNOG KOG4298 Eukaryota BLAST swissprot:ORAI3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ORAI3_HUMAN BioCyc ZFISH:ENSG00000175938-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000175938-MONOMER COXPRESdb 93129 http://coxpresdb.jp/data/gene/93129.shtml CleanEx HS_ORAI3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ORAI3 DIP DIP-48945N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-48945N DOI 10.1038/nature04702 http://dx.doi.org/10.1038/nature04702 DOI 10.1038/ncb2045 http://dx.doi.org/10.1038/ncb2045 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL BC006126 http://www.ebi.ac.uk/ena/data/view/BC006126 EMBL BC015555 http://www.ebi.ac.uk/ena/data/view/BC015555 EMBL BC022786 http://www.ebi.ac.uk/ena/data/view/BC022786 Ensembl ENST00000318663 http://www.ensembl.org/id/ENST00000318663 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0015279 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015279 GO_process GO:0002115 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002115 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GeneCards ORAI3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ORAI3 GeneID 93129 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=93129 GeneTree ENSGT00390000015354 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000015354 HGNC HGNC:28185 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:28185 HOGENOM HOG000246925 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000246925&db=HOGENOM6 HOVERGEN HBG081343 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG081343&db=HOVERGEN HPA HPA015022 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA015022 InParanoid Q9BRQ5 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9BRQ5 IntAct Q9BRQ5 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9BRQ5* InterPro IPR012446 http://www.ebi.ac.uk/interpro/entry/IPR012446 InterPro IPR030032 http://www.ebi.ac.uk/interpro/entry/IPR030032 Jabion 93129 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=93129 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Gene hsa:93129 http://www.genome.jp/dbget-bin/www_bget?hsa:93129 KEGG_Orthology KO:K16058 http://www.genome.jp/dbget-bin/www_bget?KO:K16058 KEGG_Pathway ko04020 http://www.genome.jp/kegg-bin/show_pathway?ko04020 MIM 610930 http://www.ncbi.nlm.nih.gov/omim/610930 OMA SATYRDF http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=SATYRDF OrthoDB EOG091G0E4P http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0E4P PANTHER PTHR31501 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR31501 PANTHER PTHR31501:SF6 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR31501:SF6 PSORT swissprot:ORAI3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ORAI3_HUMAN PSORT-B swissprot:ORAI3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ORAI3_HUMAN PSORT2 swissprot:ORAI3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ORAI3_HUMAN Pfam PF07856 http://pfam.xfam.org/family/PF07856 PharmGKB PA162398465 http://www.pharmgkb.org/do/serve?objId=PA162398465&objCls=Gene Phobius swissprot:ORAI3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ORAI3_HUMAN PhylomeDB Q9BRQ5 http://phylomedb.org/?seqid=Q9BRQ5 ProteinModelPortal Q9BRQ5 http://www.proteinmodelportal.org/query/uniprot/Q9BRQ5 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16582901 http://www.ncbi.nlm.nih.gov/pubmed/16582901 PubMed 20418871 http://www.ncbi.nlm.nih.gov/pubmed/20418871 RefSeq NP_689501 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_689501 STRING 9606.ENSP00000322249 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000322249&targetmode=cogs TCDB 1.A.52.1 http://www.tcdb.org/search/result.php?tc=1.A.52.1 UCSC uc002eac http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002eac&org=rat UniGene Hs.745104 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.745104 UniProtKB ORAI3_HUMAN http://www.uniprot.org/uniprot/ORAI3_HUMAN UniProtKB-AC Q9BRQ5 http://www.uniprot.org/uniprot/Q9BRQ5 charge swissprot:ORAI3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ORAI3_HUMAN eggNOG ENOG4110DSB http://eggnogapi.embl.de/nog_data/html/tree/ENOG4110DSB eggNOG KOG4298 http://eggnogapi.embl.de/nog_data/html/tree/KOG4298 epestfind swissprot:ORAI3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ORAI3_HUMAN garnier swissprot:ORAI3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ORAI3_HUMAN helixturnhelix swissprot:ORAI3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ORAI3_HUMAN hmoment swissprot:ORAI3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ORAI3_HUMAN iep swissprot:ORAI3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ORAI3_HUMAN inforesidue swissprot:ORAI3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ORAI3_HUMAN neXtProt NX_Q9BRQ5 http://www.nextprot.org/db/entry/NX_Q9BRQ5 octanol swissprot:ORAI3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ORAI3_HUMAN pepcoil swissprot:ORAI3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ORAI3_HUMAN pepdigest swissprot:ORAI3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ORAI3_HUMAN pepinfo swissprot:ORAI3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ORAI3_HUMAN pepnet swissprot:ORAI3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ORAI3_HUMAN pepstats swissprot:ORAI3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ORAI3_HUMAN pepwheel swissprot:ORAI3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ORAI3_HUMAN pepwindow swissprot:ORAI3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ORAI3_HUMAN sigcleave swissprot:ORAI3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ORAI3_HUMAN ## Database ID URL or Descriptions # AltName GHC2_HUMAN Glutamate/H(+) symporter 2 # AltName GHC2_HUMAN Solute carrier family 25 member 18 # BioGrid 123744 3 # Ensembl ENST00000327451 ENSP00000329033; ENSG00000182902 # Ensembl ENST00000399813 ENSP00000382710; ENSG00000182902 # ExpressionAtlas Q9H1K4 baseline and differential # FUNCTION GHC2_HUMAN Involved in the transport of glutamate across the inner mitochondrial membrane. Glutamate is cotransported with H(+). {ECO 0000269|PubMed 11897791}. # GO_component GO:0005743 mitochondrial inner membrane; IEA:UniProtKB-SubCell. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0015293 symporter activity; IEA:UniProtKB-KW. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # Gene3D 1.50.40.10 -; 1. # Genevisible Q9H1K4 HS # HGNC HGNC:10988 SLC25A18 # INTERACTION GHC2_HUMAN Q9HD26 GOPC; NbExp=3; IntAct=EBI-6269587, EBI-349832; # IntAct Q9H1K4 4 # InterPro IPR002067 Mit_carrier # InterPro IPR018108 Mitochondrial_sb/sol_carrier # InterPro IPR023395 Mt_carrier_dom # KEGG_Brite ko02001 Solute carrier family # MIM 609303 gene # Organism GHC2_HUMAN Homo sapiens (Human) # PRINTS PR00926 MITOCARRIER # PROSITE PS50920 SOLCAR; 3 # Pfam PF00153 Mito_carr; 3 # Proteomes UP000005640 Chromosome 22 # Reactome R-HSA-428643 Organic anion transporters # RecName GHC2_HUMAN Mitochondrial glutamate carrier 2 # RefSeq NP_001290413 NM_001303484.1 # RefSeq NP_113669 NM_031481.2 # RefSeq XP_011544453 XM_011546151.2 # RefSeq XP_011544454 XM_011546152.1 # RefSeq XP_011544455 XM_011546153.2 # RefSeq XP_011544456 XM_011546154.2 # RefSeq XP_016884457 XM_017028968.1 # SIMILARITY Belongs to the mitochondrial carrier (TC 2.A.29) family. {ECO 0000305}. # SIMILARITY Contains 3 Solcar repeats. {ECO:0000255|PROSITE- ProRule PRU00282}. # SUBCELLULAR LOCATION GHC2_HUMAN Mitochondrion inner membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. # SUPFAM SSF103506 SSF103506 # TCDB 2.A.29.14 the mitochondrial carrier (mc) family # UCSC uc002zmp human # eggNOG ENOG410Y240 LUCA # eggNOG KOG0750 Eukaryota BLAST swissprot:GHC2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:GHC2_HUMAN BioCyc ZFISH:G66-31547-MONOMER http://biocyc.org/getid?id=ZFISH:G66-31547-MONOMER COXPRESdb 83733 http://coxpresdb.jp/data/gene/83733.shtml CleanEx HS_SLC25A18 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC25A18 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1074/jbc.M201572200 http://dx.doi.org/10.1074/jbc.M201572200 DOI 10.1101/gr.154901 http://dx.doi.org/10.1101/gr.154901 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/gb-2004-5-10-r84 http://dx.doi.org/10.1186/gb-2004-5-10-r84 EMBL AJ428203 http://www.ebi.ac.uk/ena/data/view/AJ428203 EMBL AY008285 http://www.ebi.ac.uk/ena/data/view/AY008285 EMBL BC031644 http://www.ebi.ac.uk/ena/data/view/BC031644 EMBL CR456578 http://www.ebi.ac.uk/ena/data/view/CR456578 Ensembl ENST00000327451 http://www.ensembl.org/id/ENST00000327451 Ensembl ENST00000399813 http://www.ensembl.org/id/ENST00000399813 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0015293 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015293 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 Gene3D 1.50.40.10 http://www.cathdb.info/version/latest/superfamily/1.50.40.10 GeneCards SLC25A18 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC25A18 GeneID 83733 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=83733 GeneTree ENSGT00530000062944 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000062944 HGNC HGNC:10988 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10988 HOGENOM HOG000168308 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000168308&db=HOGENOM6 HOVERGEN HBG039469 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG039469&db=HOVERGEN InParanoid Q9H1K4 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9H1K4 IntAct Q9H1K4 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9H1K4* InterPro IPR002067 http://www.ebi.ac.uk/interpro/entry/IPR002067 InterPro IPR018108 http://www.ebi.ac.uk/interpro/entry/IPR018108 InterPro IPR023395 http://www.ebi.ac.uk/interpro/entry/IPR023395 Jabion 83733 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=83733 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:83733 http://www.genome.jp/dbget-bin/www_bget?hsa:83733 KEGG_Orthology KO:K15107 http://www.genome.jp/dbget-bin/www_bget?KO:K15107 MIM 609303 http://www.ncbi.nlm.nih.gov/omim/609303 MINT MINT-8052484 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-8052484 OMA HQGSASA http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=HQGSASA OrthoDB EOG091G08GT http://cegg.unige.ch/orthodb/results?searchtext=EOG091G08GT PRINTS PR00926 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00926 PROSITE PS50920 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50920 PSORT swissprot:GHC2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:GHC2_HUMAN PSORT-B swissprot:GHC2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:GHC2_HUMAN PSORT2 swissprot:GHC2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:GHC2_HUMAN Pfam PF00153 http://pfam.xfam.org/family/PF00153 PharmGKB PA35864 http://www.pharmgkb.org/do/serve?objId=PA35864&objCls=Gene Phobius swissprot:GHC2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:GHC2_HUMAN PhylomeDB Q9H1K4 http://phylomedb.org/?seqid=Q9H1K4 ProteinModelPortal Q9H1K4 http://www.proteinmodelportal.org/query/uniprot/Q9H1K4 PubMed 11381032 http://www.ncbi.nlm.nih.gov/pubmed/11381032 PubMed 11897791 http://www.ncbi.nlm.nih.gov/pubmed/11897791 PubMed 15461802 http://www.ncbi.nlm.nih.gov/pubmed/15461802 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 Reactome R-HSA-428643 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-428643 RefSeq NP_001290413 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001290413 RefSeq NP_113669 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_113669 RefSeq XP_011544453 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011544453 RefSeq XP_011544454 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011544454 RefSeq XP_011544455 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011544455 RefSeq XP_011544456 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011544456 RefSeq XP_016884457 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016884457 STRING 9606.ENSP00000329033 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000329033&targetmode=cogs SUPFAM SSF103506 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103506 TCDB 2.A.29.14 http://www.tcdb.org/search/result.php?tc=2.A.29.14 UCSC uc002zmp http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002zmp&org=rat UniGene Hs.282982 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.282982 UniProtKB GHC2_HUMAN http://www.uniprot.org/uniprot/GHC2_HUMAN UniProtKB-AC Q9H1K4 http://www.uniprot.org/uniprot/Q9H1K4 charge swissprot:GHC2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:GHC2_HUMAN eggNOG ENOG410Y240 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410Y240 eggNOG KOG0750 http://eggnogapi.embl.de/nog_data/html/tree/KOG0750 epestfind swissprot:GHC2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:GHC2_HUMAN garnier swissprot:GHC2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:GHC2_HUMAN helixturnhelix swissprot:GHC2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:GHC2_HUMAN hmoment swissprot:GHC2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:GHC2_HUMAN iep swissprot:GHC2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:GHC2_HUMAN inforesidue swissprot:GHC2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:GHC2_HUMAN neXtProt NX_Q9H1K4 http://www.nextprot.org/db/entry/NX_Q9H1K4 octanol swissprot:GHC2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:GHC2_HUMAN pepcoil swissprot:GHC2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:GHC2_HUMAN pepdigest swissprot:GHC2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:GHC2_HUMAN pepinfo swissprot:GHC2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:GHC2_HUMAN pepnet swissprot:GHC2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:GHC2_HUMAN pepstats swissprot:GHC2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:GHC2_HUMAN pepwheel swissprot:GHC2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:GHC2_HUMAN pepwindow swissprot:GHC2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:GHC2_HUMAN sigcleave swissprot:GHC2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:GHC2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS KCNG4_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8TDN1-1; Sequence=Displayed; Name=2; IsoId=Q8TDN1-2; Sequence=VSP_001029, VSP_001030; Note=No experimental confirmation available.; # AltName KCNG4_HUMAN Voltage-gated potassium channel subunit Kv6.4 # BioGrid 125002 5 # CCDS CCDS10945 -. [Q8TDN1-1] # DOMAIN KCNG4_HUMAN The transmembrane segment S4 functions as voltage-sensor and is characterized by a series of positively charged amino acids at every third position. Channel opening and closing is effected by a conformation change that affects the position and orientation of the voltage-sensor paddle formed by S3 and S4 within the membrane. A transmembrane electric field that is positive inside would push the positively charged S4 segment outwards, thereby opening the pore, while a field that is negative inside would pull the S4 segment inwards and close the pore. Changes in the position and orientation of S4 are then transmitted to the activation gate formed by the inner helix bundle via the S4-S5 linker region. {ECO 0000250|UniProtKB P63142}. # Ensembl ENST00000308251 ENSP00000312129; ENSG00000168418. [Q8TDN1-1] # Ensembl ENST00000568181 ENSP00000457897; ENSG00000168418. [Q8TDN1-2] # ExpressionAtlas Q8TDN1 baseline and differential # FUNCTION KCNG4_HUMAN Potassium channel subunit that does not form functional channels by itself. Can form functional heterotetrameric channels with KCNB1; modulates the delayed rectifier voltage-gated potassium channel activation and deactivation rates of KCNB1 (PubMed 19074135). {ECO 0000269|PubMed 19074135}. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0008076 voltage-gated potassium channel complex; IEA:InterPro. # GO_function GO:0005251 delayed rectifier potassium channel activity; IDA:UniProtKB. # GO_function GO:0044325 ion channel binding; IPI:UniProtKB. # GO_process GO:0051260 protein homooligomerization; IEA:InterPro. # GO_process GO:0071805 potassium ion transmembrane transport; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.20.120.350 -; 1. # Genevisible Q8TDN1 HS # HGNC HGNC:19697 KCNG4 # InterPro IPR003131 T1-type_BTB # InterPro IPR003968 K_chnl_volt-dep_Kv # InterPro IPR003971 K_chnl_volt-dep_Kv9 # InterPro IPR005821 Ion_trans_dom # InterPro IPR011333 SKP1/BTB/POZ # InterPro IPR027359 Channel_four-helix_dom # InterPro IPR028325 VG_K_chnl # KEGG_Brite ko04040 Ion channels # MIM 607603 gene # Organism KCNG4_HUMAN Homo sapiens (Human) # PANTHER PTHR11537 PTHR11537 # PRINTS PR00169 KCHANNEL # PRINTS PR01491 KVCHANNEL # PRINTS PR01494 KV9CHANNEL # Pfam PF00520 Ion_trans # Pfam PF02214 BTB_2 # Proteomes UP000005640 Chromosome 16 # Reactome R-HSA-1296072 Voltage gated Potassium channels # RecName KCNG4_HUMAN Potassium voltage-gated channel subfamily G member 4 # RefSeq NP_758857 NM_172347.2. [Q8TDN1-1] # SIMILARITY Belongs to the potassium channel family. G (TC 1.A.1.2) subfamily. Kv6.4/KCNG4 sub-subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION KCNG4_HUMAN Cell membrane {ECO 0000269|PubMed 19074135}; Multi-pass membrane protein {ECO 0000305}. Note=Has to be associated with KCNB1 or possibly another partner to get inserted in the plasma membrane. Colocalizes with KCNB1 at the plasma membrane. Remains intracellular in the absence of KCNB1 (PubMed 19074135). {ECO 0000269|PubMed 19074135}. # SUBUNIT Heterotetramer with KCNB1 (PubMed:19074135). {ECO 0000269|PubMed:19074135}. # SUPFAM SSF54695 SSF54695 # TISSUE SPECIFICITY KCNG4_HUMAN Highly expressed in brain, and at lower levels in liver, small intestine and colon. # UCSC uc002fhu human. [Q8TDN1-1] # eggNOG COG1226 LUCA # eggNOG KOG3713 Eukaryota BLAST swissprot:KCNG4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCNG4_HUMAN BioCyc ZFISH:ENSG00000168418-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000168418-MONOMER COXPRESdb 93107 http://coxpresdb.jp/data/gene/93107.shtml CleanEx HS_KCNG3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNG3 CleanEx HS_KCNG4 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNG4 DOI 10.1073/pnas.122617999 http://dx.doi.org/10.1073/pnas.122617999 DOI 10.1074/jbc.M808786200 http://dx.doi.org/10.1074/jbc.M808786200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AF348984 http://www.ebi.ac.uk/ena/data/view/AF348984 EMBL BC008969 http://www.ebi.ac.uk/ena/data/view/BC008969 Ensembl ENST00000308251 http://www.ensembl.org/id/ENST00000308251 Ensembl ENST00000568181 http://www.ensembl.org/id/ENST00000568181 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0008076 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008076 GO_function GO:0005251 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005251 GO_function GO:0044325 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044325 GO_process GO:0051260 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051260 GO_process GO:0071805 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071805 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.20.120.350 http://www.cathdb.info/version/latest/superfamily/1.20.120.350 GeneCards KCNG4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNG4 GeneID 93107 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=93107 GeneTree ENSGT00760000118981 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118981 HGNC HGNC:19697 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:19697 HOGENOM HOG000231014 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231014&db=HOGENOM6 HOVERGEN HBG100172 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG100172&db=HOVERGEN HPA HPA039161 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA039161 InParanoid Q8TDN1 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8TDN1 InterPro IPR003131 http://www.ebi.ac.uk/interpro/entry/IPR003131 InterPro IPR003968 http://www.ebi.ac.uk/interpro/entry/IPR003968 InterPro IPR003971 http://www.ebi.ac.uk/interpro/entry/IPR003971 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR011333 http://www.ebi.ac.uk/interpro/entry/IPR011333 InterPro IPR027359 http://www.ebi.ac.uk/interpro/entry/IPR027359 InterPro IPR028325 http://www.ebi.ac.uk/interpro/entry/IPR028325 Jabion 93107 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=93107 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:93107 http://www.genome.jp/dbget-bin/www_bget?hsa:93107 KEGG_Orthology KO:K04903 http://www.genome.jp/dbget-bin/www_bget?KO:K04903 MIM 607603 http://www.ncbi.nlm.nih.gov/omim/607603 OMA CCLRKLL http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=CCLRKLL OrthoDB EOG091G05DD http://cegg.unige.ch/orthodb/results?searchtext=EOG091G05DD PANTHER PTHR11537 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11537 PRINTS PR00169 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00169 PRINTS PR01491 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01491 PRINTS PR01494 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01494 PSORT swissprot:KCNG4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCNG4_HUMAN PSORT-B swissprot:KCNG4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCNG4_HUMAN PSORT2 swissprot:KCNG4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCNG4_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF02214 http://pfam.xfam.org/family/PF02214 PharmGKB PA134989953 http://www.pharmgkb.org/do/serve?objId=PA134989953&objCls=Gene Phobius swissprot:KCNG4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCNG4_HUMAN PhylomeDB Q8TDN1 http://phylomedb.org/?seqid=Q8TDN1 ProteinModelPortal Q8TDN1 http://www.proteinmodelportal.org/query/uniprot/Q8TDN1 PubMed 12060745 http://www.ncbi.nlm.nih.gov/pubmed/12060745 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 19074135 http://www.ncbi.nlm.nih.gov/pubmed/19074135 Reactome R-HSA-1296072 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1296072 RefSeq NP_758857 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_758857 STRING 9606.ENSP00000312129 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000312129&targetmode=cogs SUPFAM SSF54695 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF54695 UCSC uc002fhu http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002fhu&org=rat UniGene Hs.335877 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.335877 UniGene Hs.560407 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.560407 UniGene Hs.737415 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.737415 UniProtKB KCNG4_HUMAN http://www.uniprot.org/uniprot/KCNG4_HUMAN UniProtKB-AC Q8TDN1 http://www.uniprot.org/uniprot/Q8TDN1 charge swissprot:KCNG4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCNG4_HUMAN eggNOG COG1226 http://eggnogapi.embl.de/nog_data/html/tree/COG1226 eggNOG KOG3713 http://eggnogapi.embl.de/nog_data/html/tree/KOG3713 epestfind swissprot:KCNG4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCNG4_HUMAN garnier swissprot:KCNG4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCNG4_HUMAN helixturnhelix swissprot:KCNG4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCNG4_HUMAN hmoment swissprot:KCNG4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCNG4_HUMAN iep swissprot:KCNG4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCNG4_HUMAN inforesidue swissprot:KCNG4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCNG4_HUMAN neXtProt NX_Q8TDN1 http://www.nextprot.org/db/entry/NX_Q8TDN1 octanol swissprot:KCNG4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCNG4_HUMAN pepcoil swissprot:KCNG4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCNG4_HUMAN pepdigest swissprot:KCNG4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCNG4_HUMAN pepinfo swissprot:KCNG4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCNG4_HUMAN pepnet swissprot:KCNG4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCNG4_HUMAN pepstats swissprot:KCNG4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCNG4_HUMAN pepwheel swissprot:KCNG4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCNG4_HUMAN pepwindow swissprot:KCNG4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCNG4_HUMAN sigcleave swissprot:KCNG4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCNG4_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS B3A3_HUMAN Event=Alternative splicing; Named isoforms=3; Comment=Additional isoforms seem to exist.; Name=BAE3; IsoId=P48751-1; Sequence=Displayed; Name=CAE3; IsoId=P48751-2; Sequence=VSP_000462, VSP_000463; Name=3; IsoId=P48751-3; Sequence=VSP_038184; # AltName B3A3_HUMAN CAE3/BAE3 # AltName B3A3_HUMAN Cardiac/brain band 3-like protein # AltName B3A3_HUMAN Neuronal band 3-like protein # AltName B3A3_HUMAN Solute carrier family 4 member 3 # CCDS CCDS2445 -. [P48751-1] # CCDS CCDS2446 -. [P48751-3] # ChiTaRS SLC4A3 human # Ensembl ENST00000273063 ENSP00000273063; ENSG00000114923. [P48751-3] # Ensembl ENST00000317151 ENSP00000314006; ENSG00000114923. [P48751-1] # Ensembl ENST00000358055 ENSP00000350756; ENSG00000114923. [P48751-1] # Ensembl ENST00000373760 ENSP00000362865; ENSG00000114923. [P48751-1] # ExpressionAtlas P48751 baseline and differential # FUNCTION B3A3_HUMAN Plasma membrane anion exchange protein of wide distribution. Mediates at least a part of the Cl(-)/HCO3(-) exchange in cardiac myocytes. Both BAE3 and CAE3 forms transport Cl(-). # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0016020 membrane; TAS:ProtInc. # GO_function B3A3_HUMAN GO 0015301 anion anion antiporter activity; IEA UniProtKB-KW. # GO_function GO:0005452 inorganic anion exchanger activity; TAS:Reactome. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0015701 bicarbonate transport; TAS:Reactome. # GO_process GO:0051453 regulation of intracellular pH; IBA:GO_Central. # GO_process GO:1902476 chloride transmembrane transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 3.40.1100.10 -; 1. # Genevisible P48751 HS # HGNC HGNC:11029 SLC4A3 # InterPro IPR001717 Anion_exchange # InterPro IPR002979 Anion_exchange_3 # InterPro IPR003020 HCO3_transpt_euk # InterPro IPR011531 HCO3_transpt_C # InterPro IPR013769 Band3_cytoplasmic_dom # InterPro IPR016152 PTrfase/Anion_transptr # InterPro IPR018241 Anion_exchange_CS # KEGG_Brite ko02001 Solute carrier family # MIM 106195 gene # Organism B3A3_HUMAN Homo sapiens (Human) # PANTHER PTHR11453 PTHR11453; 2 # PANTHER PTHR11453:SF15 PTHR11453:SF15; 2 # PIR I38496 I38496 # PRINTS PR00165 ANIONEXCHNGR # PRINTS PR01189 ANIONEXHNGR3 # PRINTS PR01231 HCO3TRNSPORT # PROSITE PS00219 ANION_EXCHANGER_1 # PROSITE PS00220 ANION_EXCHANGER_2 # Pfam PF00955 HCO3_cotransp # Pfam PF07565 Band_3_cyto # Proteomes UP000005640 Chromosome 2 # Reactome R-HSA-425381 Bicarbonate transporters # RecName B3A3_HUMAN Anion exchange protein 3 # RefSeq NP_001313488 NM_001326559.1 # RefSeq NP_005061 NM_005070.3 # RefSeq NP_963868 NM_201574.2 # RefSeq XP_005246846 XM_005246789.4. [P48751-3] # SIMILARITY Belongs to the anion exchanger (TC 2.A.31) family. {ECO 0000305}. # SUBCELLULAR LOCATION B3A3_HUMAN Membrane; Multi-pass membrane protein. # SUPFAM SSF55804 SSF55804; 2 # TCDB 2.A.31.1 the anion exchanger (ae) family # TIGRFAMs TIGR00834 ae # TISSUE SPECIFICITY B3A3_HUMAN Both BAE3 and CAE3 are expressed in failing ventricle. # UCSC uc002vmo human. [P48751-1] # eggNOG ENOG410XPHD LUCA # eggNOG KOG1172 Eukaryota BLAST swissprot:B3A3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:B3A3_HUMAN BioCyc ZFISH:ENSG00000114923-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000114923-MONOMER COXPRESdb 6508 http://coxpresdb.jp/data/gene/6508.shtml CleanEx HS_SLC4A3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC4A3 DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1161/01.RES.75.4.603 http://dx.doi.org/10.1161/01.RES.75.4.603 EMBL AC009955 http://www.ebi.ac.uk/ena/data/view/AC009955 EMBL AK289974 http://www.ebi.ac.uk/ena/data/view/AK289974 EMBL AY142112 http://www.ebi.ac.uk/ena/data/view/AY142112 EMBL BC136384 http://www.ebi.ac.uk/ena/data/view/BC136384 EMBL BC146656 http://www.ebi.ac.uk/ena/data/view/BC146656 EMBL BC171760 http://www.ebi.ac.uk/ena/data/view/BC171760 EMBL CH471063 http://www.ebi.ac.uk/ena/data/view/CH471063 EMBL L27213 http://www.ebi.ac.uk/ena/data/view/L27213 EMBL U05596 http://www.ebi.ac.uk/ena/data/view/U05596 Ensembl ENST00000273063 http://www.ensembl.org/id/ENST00000273063 Ensembl ENST00000317151 http://www.ensembl.org/id/ENST00000317151 Ensembl ENST00000358055 http://www.ensembl.org/id/ENST00000358055 Ensembl ENST00000373760 http://www.ensembl.org/id/ENST00000373760 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_function GO:0005452 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005452 GO_function GO:0015301 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015301 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0015701 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015701 GO_process GO:0051453 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051453 GO_process GO:1902476 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902476 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 3.40.1100.10 http://www.cathdb.info/version/latest/superfamily/3.40.1100.10 GeneCards SLC4A3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC4A3 GeneID 6508 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6508 GeneTree ENSGT00760000119021 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119021 HGNC HGNC:11029 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11029 HOGENOM HOG000280683 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000280683&db=HOGENOM6 HOVERGEN HBG004326 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG004326&db=HOVERGEN HPA HPA040315 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA040315 InParanoid P48751 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P48751 InterPro IPR001717 http://www.ebi.ac.uk/interpro/entry/IPR001717 InterPro IPR002979 http://www.ebi.ac.uk/interpro/entry/IPR002979 InterPro IPR003020 http://www.ebi.ac.uk/interpro/entry/IPR003020 InterPro IPR011531 http://www.ebi.ac.uk/interpro/entry/IPR011531 InterPro IPR013769 http://www.ebi.ac.uk/interpro/entry/IPR013769 InterPro IPR016152 http://www.ebi.ac.uk/interpro/entry/IPR016152 InterPro IPR018241 http://www.ebi.ac.uk/interpro/entry/IPR018241 Jabion 6508 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6508 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:6508 http://www.genome.jp/dbget-bin/www_bget?hsa:6508 KEGG_Orthology KO:K13856 http://www.genome.jp/dbget-bin/www_bget?KO:K13856 MIM 106195 http://www.ncbi.nlm.nih.gov/omim/106195 OMA KSPQHSV http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=KSPQHSV OrthoDB EOG091G01FT http://cegg.unige.ch/orthodb/results?searchtext=EOG091G01FT PANTHER PTHR11453 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11453 PANTHER PTHR11453:SF15 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11453:SF15 PRINTS PR00165 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00165 PRINTS PR01189 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01189 PRINTS PR01231 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01231 PROSITE PS00219 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00219 PROSITE PS00220 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00220 PSORT swissprot:B3A3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:B3A3_HUMAN PSORT-B swissprot:B3A3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:B3A3_HUMAN PSORT2 swissprot:B3A3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:B3A3_HUMAN Pfam PF00955 http://pfam.xfam.org/family/PF00955 Pfam PF07565 http://pfam.xfam.org/family/PF07565 PharmGKB PA35897 http://www.pharmgkb.org/do/serve?objId=PA35897&objCls=Gene Phobius swissprot:B3A3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:B3A3_HUMAN PhylomeDB P48751 http://phylomedb.org/?seqid=P48751 ProteinModelPortal P48751 http://www.proteinmodelportal.org/query/uniprot/P48751 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 PubMed 7923606 http://www.ncbi.nlm.nih.gov/pubmed/7923606 Reactome R-HSA-425381 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-425381 RefSeq NP_001313488 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001313488 RefSeq NP_005061 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_005061 RefSeq NP_963868 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_963868 RefSeq XP_005246846 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005246846 SMR P48751 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P48751 STRING 9606.ENSP00000273063 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000273063&targetmode=cogs SUPFAM SSF55804 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF55804 TCDB 2.A.31.1 http://www.tcdb.org/search/result.php?tc=2.A.31.1 TIGRFAMs TIGR00834 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00834 UCSC uc002vmo http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002vmo&org=rat UniGene Hs.1176 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.1176 UniGene Hs.684906 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.684906 UniProtKB B3A3_HUMAN http://www.uniprot.org/uniprot/B3A3_HUMAN UniProtKB-AC P48751 http://www.uniprot.org/uniprot/P48751 charge swissprot:B3A3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:B3A3_HUMAN eggNOG ENOG410XPHD http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XPHD eggNOG KOG1172 http://eggnogapi.embl.de/nog_data/html/tree/KOG1172 epestfind swissprot:B3A3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:B3A3_HUMAN garnier swissprot:B3A3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:B3A3_HUMAN helixturnhelix swissprot:B3A3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:B3A3_HUMAN hmoment swissprot:B3A3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:B3A3_HUMAN iep swissprot:B3A3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:B3A3_HUMAN inforesidue swissprot:B3A3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:B3A3_HUMAN neXtProt NX_P48751 http://www.nextprot.org/db/entry/NX_P48751 octanol swissprot:B3A3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:B3A3_HUMAN pepcoil swissprot:B3A3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:B3A3_HUMAN pepdigest swissprot:B3A3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:B3A3_HUMAN pepinfo swissprot:B3A3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:B3A3_HUMAN pepnet swissprot:B3A3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:B3A3_HUMAN pepstats swissprot:B3A3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:B3A3_HUMAN pepwheel swissprot:B3A3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:B3A3_HUMAN pepwindow swissprot:B3A3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:B3A3_HUMAN sigcleave swissprot:B3A3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:B3A3_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=O00410-1; Sequence=Displayed; Name=2; IsoId=O00410-2; Sequence=VSP_037587; Name=3; IsoId=O00410-3; Sequence=VSP_037774; Note=Ref.2 (CAA70103) sequence differs from that shown due to a frameshift in position 18. {ECO 0000305}; # AltName IPO5_HUMAN Importin subunit beta-3 # AltName IPO5_HUMAN Karyopherin beta-3 # AltName IPO5_HUMAN Ran-binding protein 5 # BioGrid 110041 102 # CCDS CCDS31999 -. [O00410-3] # ChiTaRS IPO5 human # Ensembl ENST00000261574 ENSP00000261574; ENSG00000065150. [O00410-3] # Ensembl ENST00000357602 ENSP00000350219; ENSG00000065150. [O00410-1] # Ensembl ENST00000490680 ENSP00000418393; ENSG00000065150. [O00410-1] # ExpressionAtlas O00410 baseline and differential # FUNCTION IPO5_HUMAN Functions in nuclear protein import as nuclear transport receptor. Serves as receptor for nuclear localization signals (NLS) in cargo substrates. Is thought to mediate docking of the importin/substrate complex to the nuclear pore complex (NPC) through binding to nucleoporin and the complex is subsequently translocated through the pore by an energy requiring, Ran- dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to the importin, the importin/substrate complex dissociates and importin is re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus (By similarity). Mediates the nuclear import of ribosomal proteins RPL23A, RPS7 and RPL5. Binds to a beta-like import receptor binding (BIB) domain of RPL23A. In vitro, mediates nuclear import of H2A, H2B, H3 and H4 histones. Binds to CPEB3 and mediates its nuclear import following neuronal stimulation (By similarity). In case of HIV-1 infection, binds and mediates the nuclear import of HIV-1 Rev. {ECO 0000250|UniProtKB Q8BKC5, ECO 0000269|PubMed 9687515}. # GO_component GO:0005634 nucleus; ISS:UniProtKB. # GO_component GO:0005643 nuclear pore; TAS:ProtInc. # GO_component GO:0005654 nucleoplasm; IDA:HPA. # GO_component GO:0005730 nucleolus; IEA:UniProtKB-SubCell. # GO_component GO:0005737 cytoplasm; ISS:UniProtKB. # GO_component GO:0005794 Golgi apparatus; IDA:HPA. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0031965 nuclear membrane; IDA:HPA. # GO_component GO:0034399 nuclear periphery; IBA:GO_Central. # GO_component GO:0043231 intracellular membrane-bounded organelle; IDA:HPA. # GO_function GO:0005095 GTPase inhibitor activity; TAS:ProtInc. # GO_function GO:0008139 nuclear localization sequence binding; IBA:GO_Central. # GO_function GO:0008536 Ran GTPase binding; TAS:ProtInc. # GO_function GO:0008565 protein transporter activity; ISS:UniProtKB. # GO_function GO:0044822 poly(A) RNA binding; IDA:UniProtKB. # GO_process GO:0000059 protein import into nucleus, docking; IBA:GO_Central. # GO_process GO:0000060 protein import into nucleus, translocation; IBA:GO_Central. # GO_process GO:0006607 NLS-bearing protein import into nucleus; ISS:UniProtKB. # GO_process GO:0006610 ribosomal protein import into nucleus; IDA:UniProtKB. # GO_process GO:0016032 viral process; IEA:UniProtKB-KW. # GO_process GO:0042307 positive regulation of protein import into nucleus; ISS:UniProtKB. # GO_process GO:0071230 cellular response to amino acid stimulus; ISS:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005654 nucleoplasm # GOslim_component GO:0005730 nucleolus # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005794 Golgi apparatus # GOslim_component GO:0043226 organelle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0003723 RNA binding # GOslim_function GO:0008565 protein transporter activity # GOslim_function GO:0019899 enzyme binding # GOslim_function GO:0030234 enzyme regulator activity # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # GOslim_process GO:0006913 nucleocytoplasmic transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0044403 symbiosis, encompassing mutualism through parasitism # Gene3D 1.25.10.10 -; 3. # Genevisible O00410 HS # HGNC HGNC:6402 IPO5 # INTERACTION IPO5_HUMAN P27958 - (xeno); NbExp=5; IntAct=EBI-356424, EBI-8753518; Q96AP0 ACD; NbExp=2; IntAct=EBI-356424, EBI-717666; O95166 GABARAP; NbExp=6; IntAct=EBI-356424, EBI-712001; Q9H0R8 GABARAPL1; NbExp=4; IntAct=EBI-356424, EBI-746969; P60520 GABARAPL2; NbExp=5; IntAct=EBI-356424, EBI-720116; Q9GZQ8 MAP1LC3B; NbExp=2; IntAct=EBI-356424, EBI-373144; Q9BXW4 MAP1LC3C; NbExp=2; IntAct=EBI-356424, EBI-2603996; P18124 RPL7; NbExp=4; IntAct=EBI-356424, EBI-350806; # IntAct O00410 42 # InterPro IPR000357 HEAT # InterPro IPR001494 Importin-beta_N # InterPro IPR011989 ARM-like # InterPro IPR016024 ARM-type_fold # MIM 602008 gene # Organism IPO5_HUMAN Homo sapiens (Human) # PROSITE PS50166 IMPORTIN_B_NT # Pfam PF02985 HEAT # Proteomes UP000005640 Chromosome 13 # Reactome R-HSA-192905 vRNP Assembly # RecName IPO5_HUMAN Importin-5 # RefSeq NP_002262 NM_002271.4. [O00410-3] # RefSeq XP_005254109 XM_005254052.3. [O00410-3] # RefSeq XP_005254110 XM_005254053.3. [O00410-3] # RefSeq XP_011519389 XM_011521087.2. [O00410-3] # RefSeq XP_011519390 XM_011521088.2. [O00410-3] # RefSeq XP_011519391 XM_011521089.2. [O00410-3] # RefSeq XP_011519392 XM_011521090.2. [O00410-3] # RefSeq XP_016876051 XM_017020562.1. [O00410-3] # SEQUENCE CAUTION Sequence=CAA70103.1; Type=Frameshift; Positions=18; Evidence={ECO 0000305}; # SIMILARITY Belongs to the importin beta family. Importin beta-3 subfamily. {ECO 0000305}. # SIMILARITY Contains 1 importin N-terminal domain. {ECO:0000255|PROSITE-ProRule PRU00115}. # SIMILARITY IPO5_HUMAN Contains 24 HEAT repeats. {ECO 0000250|UniProtKB P32337, ECO 0000305|PubMed 23541588}. # SUBCELLULAR LOCATION IPO5_HUMAN Cytoplasm. Nucleus. Nucleus, nucleolus. Note=Nucleus; nuclear rim. Found particularly in the nuclear rim and nucleolus. # SUBUNIT IPO5_HUMAN Binds RPL23A, RPS7 and RPL5 (PubMed 9687515). Interacts with H2A, H2B, H3 and H4 histones (By similarity). Interacts with CPEB3; this mediates CPEB3 nuclear import following neuronal stimulation which enhances the interaction in a RAN-regulated manner (PubMed 22730302). Binds to HIV-1 Rev (PubMed 16704975). {ECO 0000250|UniProtKB Q8BKC5, ECO 0000269|PubMed 16704975, ECO 0000269|PubMed 22730302, ECO 0000269|PubMed 9687515}. # SUPFAM SSF48371 SSF48371; 3 # TCDB 1.I.1.1 the nuclear pore complex (npc) family # UCSC uc001vne human. [O00410-1] # eggNOG ENOG410XQAJ LUCA # eggNOG KOG2171 Eukaryota BLAST swissprot:IPO5_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:IPO5_HUMAN BioCyc ZFISH:ENSG00000065150-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000065150-MONOMER COXPRESdb 3843 http://coxpresdb.jp/data/gene/3843.shtml CleanEx HS_IPO5 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_IPO5 DIP DIP-41042N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-41042N DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1016/j.cell.2006.09.026 http://dx.doi.org/10.1016/j.cell.2006.09.026 DOI 10.1016/j.jmb.2013.02.035 http://dx.doi.org/10.1016/j.jmb.2013.02.035 DOI 10.1016/j.molcel.2008.07.007 http://dx.doi.org/10.1016/j.molcel.2008.07.007 DOI 10.1021/ac9004309 http://dx.doi.org/10.1021/ac9004309 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature02379 http://dx.doi.org/10.1038/nature02379 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1073/pnas.1210303109 http://dx.doi.org/10.1073/pnas.1210303109 DOI 10.1073/pnas.94.9.4451 http://dx.doi.org/10.1073/pnas.94.9.4451 DOI 10.1074/jbc.M602189200 http://dx.doi.org/10.1074/jbc.M602189200 DOI 10.1074/mcp.M111.015131 http://dx.doi.org/10.1074/mcp.M111.015131 DOI 10.1093/emboj/17.15.4491 http://dx.doi.org/10.1093/emboj/17.15.4491 DOI 10.1093/nar/gks598 http://dx.doi.org/10.1093/nar/gks598 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/scisignal.2000007 http://dx.doi.org/10.1126/scisignal.2000007 DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 DOI 10.1128/MCB.17.9.5087 http://dx.doi.org/10.1128/MCB.17.9.5087 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AK302812 http://www.ebi.ac.uk/ena/data/view/AK302812 EMBL AL137120 http://www.ebi.ac.uk/ena/data/view/AL137120 EMBL AL137120 http://www.ebi.ac.uk/ena/data/view/AL137120 EMBL AL356580 http://www.ebi.ac.uk/ena/data/view/AL356580 EMBL AL356580 http://www.ebi.ac.uk/ena/data/view/AL356580 EMBL BC001497 http://www.ebi.ac.uk/ena/data/view/BC001497 EMBL BC019309 http://www.ebi.ac.uk/ena/data/view/BC019309 EMBL BC045640 http://www.ebi.ac.uk/ena/data/view/BC045640 EMBL CH471085 http://www.ebi.ac.uk/ena/data/view/CH471085 EMBL U72761 http://www.ebi.ac.uk/ena/data/view/U72761 EMBL Y08890 http://www.ebi.ac.uk/ena/data/view/Y08890 Ensembl ENST00000261574 http://www.ensembl.org/id/ENST00000261574 Ensembl ENST00000357602 http://www.ensembl.org/id/ENST00000357602 Ensembl ENST00000490680 http://www.ensembl.org/id/ENST00000490680 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005643 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005643 GO_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GO_component GO:0005730 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005730 GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0031965 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031965 GO_component GO:0034399 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034399 GO_component GO:0043231 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043231 GO_function GO:0005095 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005095 GO_function GO:0008139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008139 GO_function GO:0008536 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008536 GO_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GO_function GO:0044822 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044822 GO_process GO:0000059 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000059 GO_process GO:0000060 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000060 GO_process GO:0006607 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006607 GO_process GO:0006610 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006610 GO_process GO:0016032 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016032 GO_process GO:0042307 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042307 GO_process GO:0071230 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071230 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GOslim_component GO:0005730 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005730 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0003723 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003723 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_function GO:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GOslim_function GO:0030234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030234 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006913 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006913 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0044403 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044403 Gene3D 1.25.10.10 http://www.cathdb.info/version/latest/superfamily/1.25.10.10 GeneCards IPO5 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=IPO5 GeneID 3843 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=3843 GeneTree ENSGT00550000074773 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074773 H-InvDB HIX0174410 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0174410 HGNC HGNC:6402 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6402 HOGENOM HOG000209725 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000209725&db=HOGENOM6 HOVERGEN HBG006156 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG006156&db=HOVERGEN HPA CAB009110 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB009110 HPA HPA040983 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA040983 HPA HPA056548 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA056548 InParanoid O00410 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O00410 IntAct O00410 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O00410* InterPro IPR000357 http://www.ebi.ac.uk/interpro/entry/IPR000357 InterPro IPR001494 http://www.ebi.ac.uk/interpro/entry/IPR001494 InterPro IPR011989 http://www.ebi.ac.uk/interpro/entry/IPR011989 InterPro IPR016024 http://www.ebi.ac.uk/interpro/entry/IPR016024 Jabion 3843 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=3843 KEGG_Gene hsa:3843 http://www.genome.jp/dbget-bin/www_bget?hsa:3843 MIM 602008 http://www.ncbi.nlm.nih.gov/omim/602008 MINT MINT-132356 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-132356 OMA NLNNMQR http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=NLNNMQR OrthoDB EOG091G011X http://cegg.unige.ch/orthodb/results?searchtext=EOG091G011X PROSITE PS50166 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50166 PSORT swissprot:IPO5_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:IPO5_HUMAN PSORT-B swissprot:IPO5_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:IPO5_HUMAN PSORT2 swissprot:IPO5_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:IPO5_HUMAN Pfam PF02985 http://pfam.xfam.org/family/PF02985 PharmGKB PA30193 http://www.pharmgkb.org/do/serve?objId=PA30193&objCls=Gene Phobius swissprot:IPO5_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:IPO5_HUMAN PhylomeDB O00410 http://phylomedb.org/?seqid=O00410 ProteinModelPortal O00410 http://www.proteinmodelportal.org/query/uniprot/O00410 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15057823 http://www.ncbi.nlm.nih.gov/pubmed/15057823 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16704975 http://www.ncbi.nlm.nih.gov/pubmed/16704975 PubMed 17081983 http://www.ncbi.nlm.nih.gov/pubmed/17081983 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 18691976 http://www.ncbi.nlm.nih.gov/pubmed/18691976 PubMed 19413330 http://www.ncbi.nlm.nih.gov/pubmed/19413330 PubMed 19690332 http://www.ncbi.nlm.nih.gov/pubmed/19690332 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 22223895 http://www.ncbi.nlm.nih.gov/pubmed/22223895 PubMed 22730302 http://www.ncbi.nlm.nih.gov/pubmed/22730302 PubMed 22814378 http://www.ncbi.nlm.nih.gov/pubmed/22814378 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 23541588 http://www.ncbi.nlm.nih.gov/pubmed/23541588 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 9114010 http://www.ncbi.nlm.nih.gov/pubmed/9114010 PubMed 9271386 http://www.ncbi.nlm.nih.gov/pubmed/9271386 PubMed 9687515 http://www.ncbi.nlm.nih.gov/pubmed/9687515 Reactome R-HSA-192905 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-192905 RefSeq NP_002262 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_002262 RefSeq XP_005254109 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005254109 RefSeq XP_005254110 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005254110 RefSeq XP_011519389 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011519389 RefSeq XP_011519390 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011519390 RefSeq XP_011519391 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011519391 RefSeq XP_011519392 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011519392 RefSeq XP_016876051 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016876051 SMR O00410 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=O00410 STRING 9606.ENSP00000261574 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000261574&targetmode=cogs SUPFAM SSF48371 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48371 TCDB 1.I.1.1 http://www.tcdb.org/search/result.php?tc=1.I.1.1 UCSC uc001vne http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001vne&org=rat UniGene Hs.712598 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.712598 UniProtKB IPO5_HUMAN http://www.uniprot.org/uniprot/IPO5_HUMAN UniProtKB-AC O00410 http://www.uniprot.org/uniprot/O00410 charge swissprot:IPO5_HUMAN http://rest.g-language.org/emboss/charge/swissprot:IPO5_HUMAN eggNOG ENOG410XQAJ http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XQAJ eggNOG KOG2171 http://eggnogapi.embl.de/nog_data/html/tree/KOG2171 epestfind swissprot:IPO5_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:IPO5_HUMAN garnier swissprot:IPO5_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:IPO5_HUMAN helixturnhelix swissprot:IPO5_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:IPO5_HUMAN hmoment swissprot:IPO5_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:IPO5_HUMAN iep swissprot:IPO5_HUMAN http://rest.g-language.org/emboss/iep/swissprot:IPO5_HUMAN inforesidue swissprot:IPO5_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:IPO5_HUMAN neXtProt NX_O00410 http://www.nextprot.org/db/entry/NX_O00410 octanol swissprot:IPO5_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:IPO5_HUMAN pepcoil swissprot:IPO5_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:IPO5_HUMAN pepdigest swissprot:IPO5_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:IPO5_HUMAN pepinfo swissprot:IPO5_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:IPO5_HUMAN pepnet swissprot:IPO5_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:IPO5_HUMAN pepstats swissprot:IPO5_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:IPO5_HUMAN pepwheel swissprot:IPO5_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:IPO5_HUMAN pepwindow swissprot:IPO5_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:IPO5_HUMAN sigcleave swissprot:IPO5_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:IPO5_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS KCNQ5_HUMAN Event=Alternative splicing; Named isoforms=7; Name=1; IsoId=Q9NR82-1; Sequence=Displayed; Name=2; IsoId=Q9NR82-2; Sequence=VSP_001014; Name=3; IsoId=Q9NR82-3; Sequence=VSP_001015; Name=4; IsoId=Q9NR82-4; Sequence=VSP_022318, VSP_022319; Note=No experimental confirmation available.; Name=5; IsoId=Q9NR82-5; Sequence=VSP_045487; Note=No experimental confirmation available.; Name=6; IsoId=Q9NR82-6; Sequence=VSP_056731; Note=No experimental confirmation available.; Name=7; IsoId=Q9NR82-7; Sequence=VSP_056730; Note=No experimental confirmation available.; # AltName KCNQ5_HUMAN KQT-like 5 # AltName KCNQ5_HUMAN Potassium channel subunit alpha KvLQT5 # AltName KCNQ5_HUMAN Voltage-gated potassium channel subunit Kv7.5 # BioGrid 121149 6 # CCDS CCDS4976 -. [Q9NR82-1] # CCDS CCDS55034 -. [Q9NR82-6] # CCDS CCDS55035 -. [Q9NR82-5] # CCDS CCDS55037 -. [Q9NR82-2] # ChiTaRS KCNQ5 human # DOMAIN KCNQ5_HUMAN The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position. {ECO 0000250}. # DrugBank DB04953 Ezogabine # Ensembl ENST00000342056 ENSP00000345055; ENSG00000185760. [Q9NR82-6] # Ensembl ENST00000370392 ENSP00000359419; ENSG00000185760. [Q9NR82-4] # Ensembl ENST00000370398 ENSP00000359425; ENSG00000185760. [Q9NR82-1] # Ensembl ENST00000628967 ENSP00000486187; ENSG00000185760. [Q9NR82-5] # Ensembl ENST00000629977 ENSP00000485743; ENSG00000185760. [Q9NR82-2] # ExpressionAtlas Q9NR82 baseline and differential # FUNCTION KCNQ5_HUMAN Probably important in the regulation of neuronal excitability. Associates with KCNQ3 to form a potassium channel which contributes to M-type current, a slowly activating and deactivating potassium conductance which plays a critical role in determining the subthreshold electrical excitability of neurons. May contribute, with other potassium channels, to the molecular diversity of a heterogeneous population of M-channels, varying in kinetic and pharmacological properties, which underlie this physiologically important current. Insensitive to tetraethylammonium, but inhibited by barium, linopirdine and XE991. Activated by niflumic acid and the anticonvulsant retigabine. Muscarine suppresses KCNQ5 current in Xenopus oocytes in which cloned KCNQ5 channels were coexpressed with M(1) muscarinic receptors. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0008076 voltage-gated potassium channel complex; TAS:ProtInc. # GO_component GO:0030118 clathrin coat; IDA:UniProtKB. # GO_function GO:0005242 inward rectifier potassium channel activity; TAS:ProtInc. # GO_function GO:0005249 voltage-gated potassium channel activity; IDA:UniProtKB. # GO_function GO:0005251 delayed rectifier potassium channel activity; IBA:GO_Central. # GO_process GO:0006461 protein complex assembly; NAS:ProtInc. # GO_process GO:0007268 chemical synaptic transmission; TAS:ProtInc. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043234 protein complex # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0007267 cell-cell signaling # Genevisible Q9NR82 HS # HGNC HGNC:6299 KCNQ5 # InterPro IPR003937 K_chnl_volt-dep_KCNQ # InterPro IPR005821 Ion_trans_dom # InterPro IPR013821 K_chnl_volt-dep_KCNQ_C # InterPro IPR028325 VG_K_chnl # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04725 Cholinergic synapse # MIM 607357 gene # Organism KCNQ5_HUMAN Homo sapiens (Human) # PANTHER PTHR11537 PTHR11537; 3 # PRINTS PR00169 KCHANNEL # PRINTS PR01459 KCNQCHANNEL # Pfam PF00520 Ion_trans # Pfam PF03520 KCNQ_channel # Proteomes UP000005640 Chromosome 6 # Reactome R-HSA-1296072 Voltage gated Potassium channels # RecName KCNQ5_HUMAN Potassium voltage-gated channel subfamily KQT member 5 # RefSeq NP_001153602 NM_001160130.1. [Q9NR82-2] # RefSeq NP_001153604 NM_001160132.1. [Q9NR82-3] # RefSeq NP_001153605 NM_001160133.1. [Q9NR82-6] # RefSeq NP_001153606 NM_001160134.1. [Q9NR82-5] # RefSeq NP_062816 NM_019842.3. [Q9NR82-1] # SEQUENCE CAUTION Sequence=BAG61495.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the potassium channel family. KQT (TC 1.A.1.15) subfamily. Kv7.5/KCNQ5 sub-subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION KCNQ5_HUMAN Membrane; Multi-pass membrane protein. # SUBUNIT KCNQ5_HUMAN Heteromultimer with KCNQ3 (PubMed 11159685). Heterotetramer with KCNQ1; has a voltage-gated potassium channel activity (PubMed 24855057). {ECO 0000269|PubMed 11159685, ECO 0000269|PubMed 24855057}. # TISSUE SPECIFICITY KCNQ5_HUMAN Strongly expressed in brain and skeletal muscle. In brain, expressed in cerebral cortex, occipital pole, frontal lobe and temporal lobe. Lower levels in hippocampus and putamen. Low to undetectable levels in medulla, cerebellum and thalamus. # UCSC uc003pgj human. [Q9NR82-1] # eggNOG COG1226 LUCA # eggNOG KOG1419 Eukaryota BLAST swissprot:KCNQ5_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCNQ5_HUMAN BioCyc ZFISH:G66-31038-MONOMER http://biocyc.org/getid?id=ZFISH:G66-31038-MONOMER COXPRESdb 56479 http://coxpresdb.jp/data/gene/56479.shtml CleanEx HS_KCNQ5 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNQ5 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature02055 http://dx.doi.org/10.1038/nature02055 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1038/sj.bjp.0703861 http://dx.doi.org/10.1038/sj.bjp.0703861 DOI 10.1074/jbc.M002378200 http://dx.doi.org/10.1074/jbc.M002378200 DOI 10.1074/jbc.M003245200 http://dx.doi.org/10.1074/jbc.M003245200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1133427 http://dx.doi.org/10.1126/science.1133427 DOI 10.1161/ATVBAHA.114.303801 http://dx.doi.org/10.1161/ATVBAHA.114.303801 DrugBank DB04953 http://www.drugbank.ca/drugs/DB04953 EMBL AF202977 http://www.ebi.ac.uk/ena/data/view/AF202977 EMBL AF249278 http://www.ebi.ac.uk/ena/data/view/AF249278 EMBL AF263835 http://www.ebi.ac.uk/ena/data/view/AF263835 EMBL AJ272506 http://www.ebi.ac.uk/ena/data/view/AJ272506 EMBL AJ272507 http://www.ebi.ac.uk/ena/data/view/AJ272507 EMBL AJ272508 http://www.ebi.ac.uk/ena/data/view/AJ272508 EMBL AJ272509 http://www.ebi.ac.uk/ena/data/view/AJ272509 EMBL AJ272510 http://www.ebi.ac.uk/ena/data/view/AJ272510 EMBL AJ272511 http://www.ebi.ac.uk/ena/data/view/AJ272511 EMBL AJ272512 http://www.ebi.ac.uk/ena/data/view/AJ272512 EMBL AJ272513 http://www.ebi.ac.uk/ena/data/view/AJ272513 EMBL AJ272514 http://www.ebi.ac.uk/ena/data/view/AJ272514 EMBL AJ272515 http://www.ebi.ac.uk/ena/data/view/AJ272515 EMBL AJ272516 http://www.ebi.ac.uk/ena/data/view/AJ272516 EMBL AJ272517 http://www.ebi.ac.uk/ena/data/view/AJ272517 EMBL AJ272518 http://www.ebi.ac.uk/ena/data/view/AJ272518 EMBL AJ272519 http://www.ebi.ac.uk/ena/data/view/AJ272519 EMBL AK299550 http://www.ebi.ac.uk/ena/data/view/AK299550 EMBL AL049845 http://www.ebi.ac.uk/ena/data/view/AL049845 EMBL AL360232 http://www.ebi.ac.uk/ena/data/view/AL360232 EMBL AL360236 http://www.ebi.ac.uk/ena/data/view/AL360236 EMBL AL365232 http://www.ebi.ac.uk/ena/data/view/AL365232 EMBL AL445569 http://www.ebi.ac.uk/ena/data/view/AL445569 EMBL AL513522 http://www.ebi.ac.uk/ena/data/view/AL513522 EMBL AL671823 http://www.ebi.ac.uk/ena/data/view/AL671823 EMBL BC050689 http://www.ebi.ac.uk/ena/data/view/BC050689 EMBL BC117359 http://www.ebi.ac.uk/ena/data/view/BC117359 EMBL BC143554 http://www.ebi.ac.uk/ena/data/view/BC143554 EMBL FO393414 http://www.ebi.ac.uk/ena/data/view/FO393414 Ensembl ENST00000342056 http://www.ensembl.org/id/ENST00000342056 Ensembl ENST00000370392 http://www.ensembl.org/id/ENST00000370392 Ensembl ENST00000370398 http://www.ensembl.org/id/ENST00000370398 Ensembl ENST00000628967 http://www.ensembl.org/id/ENST00000628967 Ensembl ENST00000629977 http://www.ensembl.org/id/ENST00000629977 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0008076 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008076 GO_component GO:0030118 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030118 GO_function GO:0005242 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005242 GO_function GO:0005249 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005249 GO_function GO:0005251 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005251 GO_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GO_process GO:0007268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007268 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GeneCards KCNQ5 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNQ5 GeneID 56479 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=56479 GeneTree ENSGT00550000074513 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074513 HGNC HGNC:6299 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6299 HOGENOM HOG000220839 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000220839&db=HOGENOM6 HOVERGEN HBG059014 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG059014&db=HOVERGEN HPA HPA016655 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA016655 InParanoid Q9NR82 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9NR82 InterPro IPR003937 http://www.ebi.ac.uk/interpro/entry/IPR003937 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR013821 http://www.ebi.ac.uk/interpro/entry/IPR013821 InterPro IPR028325 http://www.ebi.ac.uk/interpro/entry/IPR028325 Jabion 56479 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=56479 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:56479 http://www.genome.jp/dbget-bin/www_bget?hsa:56479 KEGG_Orthology KO:K04930 http://www.genome.jp/dbget-bin/www_bget?KO:K04930 KEGG_Pathway ko04725 http://www.genome.jp/kegg-bin/show_pathway?ko04725 MIM 607357 http://www.ncbi.nlm.nih.gov/omim/607357 OMA RMYTSRK http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=RMYTSRK PANTHER PTHR11537 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11537 PRINTS PR00169 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00169 PRINTS PR01459 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01459 PSORT swissprot:KCNQ5_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCNQ5_HUMAN PSORT-B swissprot:KCNQ5_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCNQ5_HUMAN PSORT2 swissprot:KCNQ5_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCNQ5_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF03520 http://pfam.xfam.org/family/PF03520 PharmGKB PA30077 http://www.pharmgkb.org/do/serve?objId=PA30077&objCls=Gene Phobius swissprot:KCNQ5_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCNQ5_HUMAN PhylomeDB Q9NR82 http://phylomedb.org/?seqid=Q9NR82 ProteinModelPortal Q9NR82 http://www.proteinmodelportal.org/query/uniprot/Q9NR82 PubMed 10787416 http://www.ncbi.nlm.nih.gov/pubmed/10787416 PubMed 10816588 http://www.ncbi.nlm.nih.gov/pubmed/10816588 PubMed 11159685 http://www.ncbi.nlm.nih.gov/pubmed/11159685 PubMed 14574404 http://www.ncbi.nlm.nih.gov/pubmed/14574404 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16959974 http://www.ncbi.nlm.nih.gov/pubmed/16959974 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 24855057 http://www.ncbi.nlm.nih.gov/pubmed/24855057 Reactome R-HSA-1296072 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1296072 RefSeq NP_001153602 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001153602 RefSeq NP_001153604 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001153604 RefSeq NP_001153605 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001153605 RefSeq NP_001153606 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001153606 RefSeq NP_062816 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_062816 STRING 9606.ENSP00000345055 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000345055&targetmode=cogs UCSC uc003pgj http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003pgj&org=rat UniGene Hs.445324 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.445324 UniProtKB KCNQ5_HUMAN http://www.uniprot.org/uniprot/KCNQ5_HUMAN UniProtKB-AC Q9NR82 http://www.uniprot.org/uniprot/Q9NR82 charge swissprot:KCNQ5_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCNQ5_HUMAN eggNOG COG1226 http://eggnogapi.embl.de/nog_data/html/tree/COG1226 eggNOG KOG1419 http://eggnogapi.embl.de/nog_data/html/tree/KOG1419 epestfind swissprot:KCNQ5_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCNQ5_HUMAN garnier swissprot:KCNQ5_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCNQ5_HUMAN helixturnhelix swissprot:KCNQ5_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCNQ5_HUMAN hmoment swissprot:KCNQ5_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCNQ5_HUMAN iep swissprot:KCNQ5_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCNQ5_HUMAN inforesidue swissprot:KCNQ5_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCNQ5_HUMAN neXtProt NX_Q9NR82 http://www.nextprot.org/db/entry/NX_Q9NR82 octanol swissprot:KCNQ5_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCNQ5_HUMAN pepcoil swissprot:KCNQ5_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCNQ5_HUMAN pepdigest swissprot:KCNQ5_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCNQ5_HUMAN pepinfo swissprot:KCNQ5_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCNQ5_HUMAN pepnet swissprot:KCNQ5_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCNQ5_HUMAN pepstats swissprot:KCNQ5_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCNQ5_HUMAN pepwheel swissprot:KCNQ5_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCNQ5_HUMAN pepwindow swissprot:KCNQ5_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCNQ5_HUMAN sigcleave swissprot:KCNQ5_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCNQ5_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS ZFY16_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q7Z3T8-1; Sequence=Displayed; Name=2; IsoId=Q7Z3T8-3; Sequence=VSP_011019, VSP_011020; Note=No experimental confirmation available.; # AltName ZFY16_HUMAN Endofin # AltName ZFY16_HUMAN Endosome-associated FYVE domain protein # BioGrid 115111 8 # CCDS CCDS4050 -. [Q7Z3T8-1] # ChiTaRS ZFYVE16 human # DOMAIN ZFY16_HUMAN The FYVE-type zinc finger is necessary and sufficient for its localization into early endosomes and mediates the association with PI3P. {ECO 0000269|PubMed 11546807}. # Ensembl ENST00000338008 ENSP00000337159; ENSG00000039319. [Q7Z3T8-1] # Ensembl ENST00000505560 ENSP00000426848; ENSG00000039319. [Q7Z3T8-1] # Ensembl ENST00000510158 ENSP00000423663; ENSG00000039319. [Q7Z3T8-1] # ExpressionAtlas Q7Z3T8 baseline and differential # FUNCTION ZFY16_HUMAN May be involved in regulating membrane trafficking in the endosomal pathway. Overexpression induces endosome aggregation. Required to target TOM1 to endosomes. {ECO 0000269|PubMed 11546807, ECO 0000269|PubMed 14613930}. # GO_component GO:0005737 cytoplasm; IDA:HPA. # GO_component GO:0005769 early endosome; IDA:UniProtKB. # GO_component GO:0031901 early endosome membrane; TAS:Reactome. # GO_component GO:0043231 intracellular membrane-bounded organelle; IDA:HPA. # GO_function GO:0005545 1-phosphatidylinositol binding; IDA:UniProtKB. # GO_function GO:0005547 phosphatidylinositol-3,4,5-trisphosphate binding; IDA:UniProtKB. # GO_function GO:0008565 protein transporter activity; IMP:UniProtKB. # GO_function GO:0046872 metal ion binding; IEA:UniProtKB-KW. # GO_process GO:0006622 protein targeting to lysosome; IMP:UniProtKB. # GO_process GO:0007165 signal transduction; NAS:UniProtKB. # GO_process GO:0016050 vesicle organization; NAS:UniProtKB. # GO_process GO:0016197 endosomal transport; IMP:UniProtKB. # GO_process GO:0030100 regulation of endocytosis; TAS:UniProtKB. # GO_process GO:0030509 BMP signaling pathway; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005768 endosome # GOslim_component GO:0043226 organelle # GOslim_function GO:0008289 lipid binding # GOslim_function GO:0008565 protein transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006605 protein targeting # GOslim_process GO:0006810 transport # GOslim_process GO:0007034 vacuolar transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # Gene3D 3.30.40.10 -; 1. # Genevisible Q7Z3T8 HS # HGNC HGNC:20756 ZFYVE16 # INTERACTION ZFY16_HUMAN O60784 TOM1; NbExp=5; IntAct=EBI-298055, EBI-74634; # IntAct Q7Z3T8 7 # InterPro IPR000306 Znf_FYVE # InterPro IPR011011 Znf_FYVE_PHD # InterPro IPR013083 Znf_RING/FYVE/PHD # InterPro IPR017165 Znf_FYVE_endofin # InterPro IPR017455 Znf_FYVE-rel # InterPro IPR022557 DUF3480 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Pathway ko04144 Endocytosis # KEGG_Pathway ko04350 TGF-beta signaling pathway # MIM 608880 gene # Organism ZFY16_HUMAN Homo sapiens (Human) # PANTHER PTHR22835:SF43 PTHR22835:SF43; 4 # PDB 3T7L X-ray; 1.09 A; A=733-820 # PIRSF PIRSF037289 SARA/endofin # PROSITE PS50178 ZF_FYVE # Pfam PF01363 FYVE # Pfam PF11979 DUF3480 # Proteomes UP000005640 Chromosome 5 # Reactome R-HSA-201451 Signaling by BMP # RecName ZFY16_HUMAN Zinc finger FYVE domain-containing protein 16 # RefSeq NP_001098721 NM_001105251.2 # RefSeq NP_001271165 NM_001284236.1 # RefSeq NP_001271166 NM_001284237.1 # RefSeq NP_055548 NM_014733.4 # RefSeq XP_005248689 XM_005248632.4. [Q7Z3T8-1] # RefSeq XP_011542055 XM_011543753.2. [Q7Z3T8-1] # RefSeq XP_016865580 XM_017010091.1. [Q7Z3T8-1] # RefSeq XP_016865581 XM_017010092.1. [Q7Z3T8-1] # SEQUENCE CAUTION Sequence=BAA20764.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO 0000305}; # SIMILARITY Contains 1 FYVE-type zinc finger. {ECO:0000255|PROSITE-ProRule PRU00091}. # SMART SM00064 FYVE # SUBCELLULAR LOCATION ZFY16_HUMAN Cytoplasm {ECO 0000269|PubMed 11546807}. Early endosome membrane {ECO 0000269|PubMed 11546807}; Peripheral membrane protein {ECO 0000269|PubMed 11546807}. Note=Localized to early endosomes. Membrane-associated, probably via its association with phosphatidylinositol 3-phosphate (PI3P). # SUBUNIT Interacts with the C-terminus of TOM1. Does not interact with TOM1L1 or TOM1L2. {ECO:0000269|PubMed 14613930, ECO:0000269|Ref.15}. # SUPFAM SSF57903 SSF57903 # TISSUE SPECIFICITY Widely expressed. Highly expressed in kidney, placenta and lung. Expressed at intermediate level in heart, brain, skeletal muscle, spleen and liver. Weakly expressed in colon, thymus and peripheral blood lymphocytes. {ECO:0000269|PubMed 11546807}. # UCSC uc003kgq human. [Q7Z3T8-1] # eggNOG ENOG410XSEQ LUCA # eggNOG KOG1841 Eukaryota BLAST swissprot:ZFY16_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ZFY16_HUMAN COXPRESdb 9765 http://coxpresdb.jp/data/gene/9765.shtml CleanEx HS_ZFYVE16 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ZFYVE16 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/ac035352d http://dx.doi.org/10.1021/ac035352d DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature02919 http://dx.doi.org/10.1038/nature02919 DOI 10.1038/nbt1046 http://dx.doi.org/10.1038/nbt1046 DOI 10.1038/nbt1240 http://dx.doi.org/10.1038/nbt1240 DOI 10.1056/NEJMoa1206524 http://dx.doi.org/10.1056/NEJMoa1206524 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1074/jbc.M105917200 http://dx.doi.org/10.1074/jbc.M105917200 DOI 10.1074/jbc.M311228200 http://dx.doi.org/10.1074/jbc.M311228200 DOI 10.1093/dnares/4.2.141 http://dx.doi.org/10.1093/dnares/4.2.141 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AB002303 http://www.ebi.ac.uk/ena/data/view/AB002303 EMBL AC008771 http://www.ebi.ac.uk/ena/data/view/AC008771 EMBL AF434817 http://www.ebi.ac.uk/ena/data/view/AF434817 EMBL AL833087 http://www.ebi.ac.uk/ena/data/view/AL833087 EMBL BC030808 http://www.ebi.ac.uk/ena/data/view/BC030808 EMBL BX537424 http://www.ebi.ac.uk/ena/data/view/BX537424 EMBL CR933621 http://www.ebi.ac.uk/ena/data/view/CR933621 Ensembl ENST00000338008 http://www.ensembl.org/id/ENST00000338008 Ensembl ENST00000505560 http://www.ensembl.org/id/ENST00000505560 Ensembl ENST00000510158 http://www.ensembl.org/id/ENST00000510158 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005769 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005769 GO_component GO:0031901 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031901 GO_component GO:0043231 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043231 GO_function GO:0005545 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005545 GO_function GO:0005547 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005547 GO_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GO_function GO:0046872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046872 GO_process GO:0006622 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006622 GO_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GO_process GO:0016050 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016050 GO_process GO:0016197 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016197 GO_process GO:0030100 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030100 GO_process GO:0030509 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030509 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0008289 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008289 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006605 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006605 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007034 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007034 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 Gene3D 3.30.40.10 http://www.cathdb.info/version/latest/superfamily/3.30.40.10 GeneCards ZFYVE16 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ZFYVE16 GeneID 9765 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=9765 GeneTree ENSGT00840000129741 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00840000129741 HGNC HGNC:20756 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:20756 HOVERGEN HBG098617 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG098617&db=HOVERGEN HPA HPA035935 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA035935 HPA HPA035936 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA035936 InParanoid Q7Z3T8 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q7Z3T8 IntAct Q7Z3T8 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q7Z3T8* InterPro IPR000306 http://www.ebi.ac.uk/interpro/entry/IPR000306 InterPro IPR011011 http://www.ebi.ac.uk/interpro/entry/IPR011011 InterPro IPR013083 http://www.ebi.ac.uk/interpro/entry/IPR013083 InterPro IPR017165 http://www.ebi.ac.uk/interpro/entry/IPR017165 InterPro IPR017455 http://www.ebi.ac.uk/interpro/entry/IPR017455 InterPro IPR022557 http://www.ebi.ac.uk/interpro/entry/IPR022557 Jabion 9765 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=9765 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Gene hsa:9765 http://www.genome.jp/dbget-bin/www_bget?hsa:9765 KEGG_Orthology KO:K04679 http://www.genome.jp/dbget-bin/www_bget?KO:K04679 KEGG_Pathway ko04144 http://www.genome.jp/kegg-bin/show_pathway?ko04144 KEGG_Pathway ko04350 http://www.genome.jp/kegg-bin/show_pathway?ko04350 MIM 608880 http://www.ncbi.nlm.nih.gov/omim/608880 MINT MINT-1196290 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1196290 OMA FEQNPDE http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=FEQNPDE OrthoDB EOG091G0VJ6 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0VJ6 PANTHER PTHR22835:SF43 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR22835:SF43 PDB 3T7L http://www.ebi.ac.uk/pdbe-srv/view/entry/3T7L PDBsum 3T7L http://www.ebi.ac.uk/pdbsum/3T7L PROSITE PS50178 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50178 PSORT swissprot:ZFY16_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ZFY16_HUMAN PSORT-B swissprot:ZFY16_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ZFY16_HUMAN PSORT2 swissprot:ZFY16_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ZFY16_HUMAN Pfam PF01363 http://pfam.xfam.org/family/PF01363 Pfam PF11979 http://pfam.xfam.org/family/PF11979 PharmGKB PA134873366 http://www.pharmgkb.org/do/serve?objId=PA134873366&objCls=Gene Phobius swissprot:ZFY16_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ZFY16_HUMAN PhylomeDB Q7Z3T8 http://phylomedb.org/?seqid=Q7Z3T8 ProteinModelPortal Q7Z3T8 http://www.proteinmodelportal.org/query/uniprot/Q7Z3T8 PubMed 11546807 http://www.ncbi.nlm.nih.gov/pubmed/11546807 PubMed 14613930 http://www.ncbi.nlm.nih.gov/pubmed/14613930 PubMed 15144186 http://www.ncbi.nlm.nih.gov/pubmed/15144186 PubMed 15372022 http://www.ncbi.nlm.nih.gov/pubmed/15372022 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15592455 http://www.ncbi.nlm.nih.gov/pubmed/15592455 PubMed 16964243 http://www.ncbi.nlm.nih.gov/pubmed/16964243 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 23033978 http://www.ncbi.nlm.nih.gov/pubmed/23033978 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 9205841 http://www.ncbi.nlm.nih.gov/pubmed/9205841 Reactome R-HSA-201451 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-201451 RefSeq NP_001098721 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001098721 RefSeq NP_001271165 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001271165 RefSeq NP_001271166 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001271166 RefSeq NP_055548 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_055548 RefSeq XP_005248689 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005248689 RefSeq XP_011542055 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011542055 RefSeq XP_016865580 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016865580 RefSeq XP_016865581 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016865581 SMART SM00064 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00064 SMR Q7Z3T8 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q7Z3T8 STRING 9606.ENSP00000337159 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000337159&targetmode=cogs SUPFAM SSF57903 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF57903 UCSC uc003kgq http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003kgq&org=rat UniGene Hs.482660 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.482660 UniGene Hs.660410 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.660410 UniProtKB ZFY16_HUMAN http://www.uniprot.org/uniprot/ZFY16_HUMAN UniProtKB-AC Q7Z3T8 http://www.uniprot.org/uniprot/Q7Z3T8 charge swissprot:ZFY16_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ZFY16_HUMAN eggNOG ENOG410XSEQ http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XSEQ eggNOG KOG1841 http://eggnogapi.embl.de/nog_data/html/tree/KOG1841 epestfind swissprot:ZFY16_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ZFY16_HUMAN garnier swissprot:ZFY16_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ZFY16_HUMAN helixturnhelix swissprot:ZFY16_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ZFY16_HUMAN hmoment swissprot:ZFY16_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ZFY16_HUMAN iep swissprot:ZFY16_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ZFY16_HUMAN inforesidue swissprot:ZFY16_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ZFY16_HUMAN neXtProt NX_Q7Z3T8 http://www.nextprot.org/db/entry/NX_Q7Z3T8 octanol swissprot:ZFY16_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ZFY16_HUMAN pepcoil swissprot:ZFY16_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ZFY16_HUMAN pepdigest swissprot:ZFY16_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ZFY16_HUMAN pepinfo swissprot:ZFY16_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ZFY16_HUMAN pepnet swissprot:ZFY16_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ZFY16_HUMAN pepstats swissprot:ZFY16_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ZFY16_HUMAN pepwheel swissprot:ZFY16_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ZFY16_HUMAN pepwindow swissprot:ZFY16_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ZFY16_HUMAN sigcleave swissprot:ZFY16_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ZFY16_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS 4ET_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9NRA8-1; Sequence=Displayed; Name=2; IsoId=Q9NRA8-2; Sequence=VSP_003783, VSP_003784, VSP_047042; Note=No experimental confirmation available.; Name=3; IsoId=Q9NRA8-3; Sequence=VSP_047042; Note=No experimental confirmation available.; # AltName 4ET_HUMAN Eukaryotic translation initiation factor 4E nuclear import factor 1 # BioGrid 121148 45 # CCDS CCDS13898 -. [Q9NRA8-1] # CCDS CCDS54520 -. [Q9NRA8-2] # Ensembl ENST00000330125 ENSP00000328103; ENSG00000184708. [Q9NRA8-1] # Ensembl ENST00000344710 ENSP00000342927; ENSG00000184708. [Q9NRA8-2] # Ensembl ENST00000397525 ENSP00000380659; ENSG00000184708. [Q9NRA8-1] # ExpressionAtlas Q9NRA8 baseline and differential # FUNCTION 4ET_HUMAN Nucleoplasmic shuttling protein. Mediates the nuclear import of EIF4E by a piggy-back mechanism. # GO_component GO:0000932 cytoplasmic mRNA processing body; IEA:Ensembl. # GO_component GO:0005634 nucleus; TAS:ProtInc. # GO_component GO:0005737 cytoplasm; TAS:ProtInc. # GO_component GO:0005829 cytosol; IEA:Ensembl. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0016605 PML body; IEA:UniProtKB-SubCell. # GO_component GO:0016607 nuclear speck; IEA:UniProtKB-SubCell. # GO_component GO:0043231 intracellular membrane-bounded organelle; IDA:HPA. # GO_function GO:0003729 mRNA binding; IEA:Ensembl. # GO_function GO:0008565 protein transporter activity; TAS:ProtInc. # GO_function GO:0044822 poly(A) RNA binding; IDA:UniProtKB. # GO_process GO:0017148 negative regulation of translation; IEA:Ensembl. # GO_process GO:0019827 stem cell population maintenance; IEA:Ensembl. # GO_process GO:0045665 negative regulation of neuron differentiation; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005829 cytosol # GOslim_component GO:0043226 organelle # GOslim_function GO:0003723 RNA binding # GOslim_function GO:0003729 mRNA binding # GOslim_function GO:0008565 protein transporter activity # GOslim_process GO:0008150 biological_process # Genevisible Q9NRA8 HS # HGNC HGNC:16687 EIF4ENIF1 # INTERACTION 4ET_HUMAN Q9WMX2 - (xeno); NbExp=3; IntAct=EBI-301024, EBI-6863741; P26196 DDX6; NbExp=5; IntAct=EBI-301024, EBI-351257; Q9H4E7 DEF6; NbExp=3; IntAct=EBI-301024, EBI-745369; Q4ZH49 DTX2; NbExp=3; IntAct=EBI-301024, EBI-10192429; Q86UW9 DTX2; NbExp=4; IntAct=EBI-301024, EBI-740376; Q5JVL4 EFHC1; NbExp=6; IntAct=EBI-301024, EBI-743105; P06730 EIF4E; NbExp=9; IntAct=EBI-301024, EBI-73440; O60573 EIF4E2; NbExp=3; IntAct=EBI-301024, EBI-398610; Q9NW38 FANCL; NbExp=3; IntAct=EBI-301024, EBI-2339898; P52597 HNRNPF; NbExp=3; IntAct=EBI-301024, EBI-352986; P08727 KRT19; NbExp=3; IntAct=EBI-301024, EBI-742756; O43482 OIP5; NbExp=3; IntAct=EBI-301024, EBI-536879; Q6DKK2 TTC19; NbExp=3; IntAct=EBI-301024, EBI-948354; P40222 TXLNA; NbExp=3; IntAct=EBI-301024, EBI-359793; # IntAct Q9NRA8 44 # InterPro IPR018862 eIF4E_binding # MIM 607445 gene # Organism 4ET_HUMAN Homo sapiens (Human) # Orphanet 619 Primary ovarian failure # PDB 5ANR X-ray; 2.10 A; C=199-239 # Pfam PF10477 EIF4E-T # Proteomes UP000005640 Chromosome 22 # RecName 4ET_HUMAN Eukaryotic translation initiation factor 4E transporter # RefSeq NP_001157973 NM_001164501.1. [Q9NRA8-1] # RefSeq NP_001157974 NM_001164502.1. [Q9NRA8-2] # RefSeq NP_062817 NM_019843.3. [Q9NRA8-1] # RefSeq XP_005261743 XM_005261686.2. [Q9NRA8-3] # RefSeq XP_005261744 XM_005261687.2. [Q9NRA8-3] # RefSeq XP_005261745 XM_005261688.2. [Q9NRA8-3] # RefSeq XP_011528582 XM_011530280.1. [Q9NRA8-1] # RefSeq XP_011528583 XM_011530281.2. [Q9NRA8-3] # RefSeq XP_016884353 XM_017028864.1. [Q9NRA8-1] # SEQUENCE CAUTION Sequence=BAB15092.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAC11194.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SUBCELLULAR LOCATION 4ET_HUMAN Cytoplasm {ECO 0000269|PubMed 22090346}. Nucleus {ECO 0000269|PubMed 22090346}. Nucleus, PML body {ECO 0000269|PubMed 22090346}. Nucleus speckle {ECO 0000269|PubMed 22090346}. Note=Predominantly cytoplasmic. Shuttles between the nucleus and the cytoplasm in a CRM1-dependent manner. Localization to nuclear foci and speckles requires active transcription. # SUBUNIT Interacts with EIF4E. Interacts with importin beta only in the presence of importin alpha, suggesting a direct interaction with importin alpha. Interacts with APOBEC3G in an RNA-dependent manner. {ECO:0000269|PubMed 16699599}. # TISSUE SPECIFICITY 4ET_HUMAN Widely expressed. # UCSC uc003akz human. [Q9NRA8-1] # eggNOG ENOG410IG0J Eukaryota # eggNOG ENOG41110MN LUCA BLAST swissprot:4ET_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:4ET_HUMAN BioCyc ZFISH:G66-31626-MONOMER http://biocyc.org/getid?id=ZFISH:G66-31626-MONOMER COXPRESdb 56478 http://coxpresdb.jp/data/gene/56478.shtml CleanEx HS_EIF4ENIF1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_EIF4ENIF1 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/ac9004309 http://dx.doi.org/10.1021/ac9004309 DOI 10.1021/pr0704130 http://dx.doi.org/10.1021/pr0704130 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/990031 http://dx.doi.org/10.1038/990031 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1091/mbc.E11-05-0415 http://dx.doi.org/10.1091/mbc.E11-05-0415 DOI 10.1093/emboj/19.12.3142 http://dx.doi.org/10.1093/emboj/19.12.3142 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1175371 http://dx.doi.org/10.1126/science.1175371 DOI 10.1126/scisignal.2000007 http://dx.doi.org/10.1126/scisignal.2000007 DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 DOI 10.1126/scisignal.2001570 http://dx.doi.org/10.1126/scisignal.2001570 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DOI 10.1186/gb-2004-5-10-r84 http://dx.doi.org/10.1186/gb-2004-5-10-r84 DOI 10.1371/journal.ppat.0020041 http://dx.doi.org/10.1371/journal.ppat.0020041 EMBL AF240775 http://www.ebi.ac.uk/ena/data/view/AF240775 EMBL AK025254 http://www.ebi.ac.uk/ena/data/view/AK025254 EMBL AK074768 http://www.ebi.ac.uk/ena/data/view/AK074768 EMBL AK314636 http://www.ebi.ac.uk/ena/data/view/AK314636 EMBL AL096701 http://www.ebi.ac.uk/ena/data/view/AL096701 EMBL BC032941 http://www.ebi.ac.uk/ena/data/view/BC032941 EMBL BC033028 http://www.ebi.ac.uk/ena/data/view/BC033028 EMBL CH471095 http://www.ebi.ac.uk/ena/data/view/CH471095 EMBL CR456386 http://www.ebi.ac.uk/ena/data/view/CR456386 Ensembl ENST00000330125 http://www.ensembl.org/id/ENST00000330125 Ensembl ENST00000344710 http://www.ensembl.org/id/ENST00000344710 Ensembl ENST00000397525 http://www.ensembl.org/id/ENST00000397525 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000932 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000932 GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016605 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016605 GO_component GO:0016607 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016607 GO_component GO:0043231 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043231 GO_function GO:0003729 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003729 GO_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GO_function GO:0044822 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044822 GO_process GO:0017148 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0017148 GO_process GO:0019827 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019827 GO_process GO:0045665 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045665 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003723 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003723 GOslim_function GO:0003729 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003729 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GeneCards EIF4ENIF1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=EIF4ENIF1 GeneID 56478 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=56478 GeneTree ENSGT00390000012071 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000012071 H-InvDB HIX0016395 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0016395 HGNC HGNC:16687 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:16687 HOGENOM HOG000232370 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000232370&db=HOGENOM6 HOVERGEN HBG023298 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG023298&db=HOVERGEN HPA HPA001619 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA001619 HPA HPA002078 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA002078 InParanoid Q9NRA8 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9NRA8 IntAct Q9NRA8 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9NRA8* InterPro IPR018862 http://www.ebi.ac.uk/interpro/entry/IPR018862 Jabion 56478 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=56478 KEGG_Gene hsa:56478 http://www.genome.jp/dbget-bin/www_bget?hsa:56478 MIM 607445 http://www.ncbi.nlm.nih.gov/omim/607445 MINT MINT-1956064 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1956064 OMA SMPTKVI http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=SMPTKVI Orphanet 619 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=619 OrthoDB EOG091G04PY http://cegg.unige.ch/orthodb/results?searchtext=EOG091G04PY PDB 5ANR http://www.ebi.ac.uk/pdbe-srv/view/entry/5ANR PDBsum 5ANR http://www.ebi.ac.uk/pdbsum/5ANR PSORT swissprot:4ET_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:4ET_HUMAN PSORT-B swissprot:4ET_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:4ET_HUMAN PSORT2 swissprot:4ET_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:4ET_HUMAN Pfam PF10477 http://pfam.xfam.org/family/PF10477 PharmGKB PA38410 http://www.pharmgkb.org/do/serve?objId=PA38410&objCls=Gene Phobius swissprot:4ET_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:4ET_HUMAN PhylomeDB Q9NRA8 http://phylomedb.org/?seqid=Q9NRA8 ProteinModelPortal Q9NRA8 http://www.proteinmodelportal.org/query/uniprot/Q9NRA8 PubMed 10591208 http://www.ncbi.nlm.nih.gov/pubmed/10591208 PubMed 10856257 http://www.ncbi.nlm.nih.gov/pubmed/10856257 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15461802 http://www.ncbi.nlm.nih.gov/pubmed/15461802 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16699599 http://www.ncbi.nlm.nih.gov/pubmed/16699599 PubMed 18088087 http://www.ncbi.nlm.nih.gov/pubmed/18088087 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 19413330 http://www.ncbi.nlm.nih.gov/pubmed/19413330 PubMed 19608861 http://www.ncbi.nlm.nih.gov/pubmed/19608861 PubMed 19690332 http://www.ncbi.nlm.nih.gov/pubmed/19690332 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 21406692 http://www.ncbi.nlm.nih.gov/pubmed/21406692 PubMed 22090346 http://www.ncbi.nlm.nih.gov/pubmed/22090346 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 RefSeq NP_001157973 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001157973 RefSeq NP_001157974 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001157974 RefSeq NP_062817 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_062817 RefSeq XP_005261743 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005261743 RefSeq XP_005261744 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005261744 RefSeq XP_005261745 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005261745 RefSeq XP_011528582 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011528582 RefSeq XP_011528583 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011528583 RefSeq XP_016884353 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016884353 SMR Q9NRA8 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9NRA8 STRING 9606.ENSP00000328103 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000328103&targetmode=cogs UCSC uc003akz http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003akz&org=rat UniGene Hs.517559 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.517559 UniProtKB 4ET_HUMAN http://www.uniprot.org/uniprot/4ET_HUMAN UniProtKB-AC Q9NRA8 http://www.uniprot.org/uniprot/Q9NRA8 charge swissprot:4ET_HUMAN http://rest.g-language.org/emboss/charge/swissprot:4ET_HUMAN eggNOG ENOG410IG0J http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IG0J eggNOG ENOG41110MN http://eggnogapi.embl.de/nog_data/html/tree/ENOG41110MN epestfind swissprot:4ET_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:4ET_HUMAN garnier swissprot:4ET_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:4ET_HUMAN helixturnhelix swissprot:4ET_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:4ET_HUMAN hmoment swissprot:4ET_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:4ET_HUMAN iep swissprot:4ET_HUMAN http://rest.g-language.org/emboss/iep/swissprot:4ET_HUMAN inforesidue swissprot:4ET_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:4ET_HUMAN neXtProt NX_Q9NRA8 http://www.nextprot.org/db/entry/NX_Q9NRA8 octanol swissprot:4ET_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:4ET_HUMAN pepcoil swissprot:4ET_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:4ET_HUMAN pepdigest swissprot:4ET_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:4ET_HUMAN pepinfo swissprot:4ET_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:4ET_HUMAN pepnet swissprot:4ET_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:4ET_HUMAN pepstats swissprot:4ET_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:4ET_HUMAN pepwheel swissprot:4ET_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:4ET_HUMAN pepwindow swissprot:4ET_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:4ET_HUMAN sigcleave swissprot:4ET_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:4ET_HUMAN ## Database ID URL or Descriptions # AltName CXG2_HUMAN Connexin-46.6 # AltName CXG2_HUMAN Connexin-47 # AltName CXG2_HUMAN Gap junction alpha-12 protein # CAUTION It is uncertain whether Met-1 or Met-4 is the initiator. {ECO 0000305}. # DISEASE CXG2_HUMAN Leukodystrophy, hypomyelinating, 2 (HLD2) [MIM 608804] An autosomal recessive hypomyelinating leukodystrophy with symptoms of Pelizaeus-Merzbacher disease. Clinically characterized by nystagmus, impaired motor development, ataxia, choreoathetotic movements, dysarthria, and progressive spasticity. {ECO 0000269|PubMed 15192806}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE CXG2_HUMAN Lymphedema, hereditary, 1C (LMPH1C) [MIM 613480] A chronic disabling condition which results in swelling of the extremities due to altered lymphatic flow. Patients with lymphedema suffer from recurrent local infections and physical impairment. {ECO 0000269|PubMed 20537300}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE CXG2_HUMAN Spastic paraplegia 44, autosomal recessive (SPG44) [MIM 613206] A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. {ECO 0000269|PubMed 19056803}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000366714 ENSP00000355675; ENSG00000198835 # FUNCTION CXG2_HUMAN One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell. May play a role in myelination in central and peripheral nervous systems. {ECO 0000269|PubMed 15192806}. # GO_component GO:0005922 connexin complex; IEA:InterPro. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0043209 myelin sheath; IEA:Ensembl. # GO_function GO:0005243 gap junction channel activity; IEA:Ensembl. # GO_process GO:0007267 cell-cell signaling; IEA:Ensembl. # GO_process GO:0009636 response to toxic substance; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0043234 protein complex # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # Genevisible Q5T442 HS # HGNC HGNC:17494 GJC2 # InterPro IPR000500 Connexin # InterPro IPR013092 Connexin_N # InterPro IPR017990 Connexin_CS # InterPro IPR019570 Connexin_CCC # KEGG_Disease H00266 [Nervous system disease; Muscular disease] Hereditary spastic paraplegia (SPG) # KEGG_Disease H00679 [Inherited metabolic disease; Nervous system disease] Pelizaeus-Merzbacher disease (PMD) # MIM 608803 gene # MIM 608804 phenotype # MIM 613206 phenotype # MIM 613480 phenotype # Organism CXG2_HUMAN Homo sapiens (Human) # Orphanet 280282 Pelizaeus-Merzbacher-like disease due to GJC2 mutation # Orphanet 320401 Autosomal recessive spastic paraplegia type 44 # Orphanet 79452 Milroy disease # PANTHER PTHR11984 PTHR11984; 2 # PRINTS PR00206 CONNEXIN # PROSITE PS00407 CONNEXINS_1 # PROSITE PS00408 CONNEXINS_2 # Pfam PF00029 Connexin # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-190861 Gap junction assembly # RecName CXG2_HUMAN Gap junction gamma-2 protein # RefSeq NP_065168 NM_020435.3 # SEQUENCE CAUTION Sequence=AAB94511.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH35840.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the connexin family. Gamma-type subfamily. {ECO 0000305}. # SMART SM00037 CNX # SMART SM01089 Connexin_CCC # SUBCELLULAR LOCATION CXG2_HUMAN Cell membrane; Multi-pass membrane protein. Cell junction, gap junction. # SUBUNIT A connexon is composed of a hexamer of connexins. Interacts with TJP1 (By similarity). {ECO 0000250}. # TISSUE SPECIFICITY Expressed in central nervous system, in sciatic nerve and sural nerve. Also detected in skeletal muscles. {ECO:0000269|PubMed 15192806}. # UCSC uc001hsk human # eggNOG ENOG410IFK3 Eukaryota # eggNOG ENOG410Z7PN LUCA BLAST swissprot:CXG2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CXG2_HUMAN BioCyc ZFISH:G66-33535-MONOMER http://biocyc.org/getid?id=ZFISH:G66-33535-MONOMER COXPRESdb 57165 http://coxpresdb.jp/data/gene/57165.shtml CleanEx HS_GJC2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_GJC2 DOI 10.1016/j.ajhg.2010.04.010 http://dx.doi.org/10.1016/j.ajhg.2010.04.010 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1086/422763 http://dx.doi.org/10.1086/422763 DOI 10.1093/brain/awn328 http://dx.doi.org/10.1093/brain/awn328 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AF014643 http://www.ebi.ac.uk/ena/data/view/AF014643 EMBL AL359510 http://www.ebi.ac.uk/ena/data/view/AL359510 EMBL AY285161 http://www.ebi.ac.uk/ena/data/view/AY285161 EMBL BC035840 http://www.ebi.ac.uk/ena/data/view/BC035840 EMBL BC089439 http://www.ebi.ac.uk/ena/data/view/BC089439 Ensembl ENST00000366714 http://www.ensembl.org/id/ENST00000366714 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005922 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005922 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0043209 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043209 GO_function GO:0005243 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005243 GO_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GO_process GO:0009636 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009636 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GeneCards GJC2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=GJC2 GeneID 57165 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=57165 GeneTree ENSGT00840000129674 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00840000129674 HGNC HGNC:17494 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:17494 HOGENOM HOG000231126 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231126&db=HOGENOM6 HOVERGEN HBG009576 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG009576&db=HOVERGEN InParanoid Q5T442 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q5T442 IntAct Q5T442 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q5T442* InterPro IPR000500 http://www.ebi.ac.uk/interpro/entry/IPR000500 InterPro IPR013092 http://www.ebi.ac.uk/interpro/entry/IPR013092 InterPro IPR017990 http://www.ebi.ac.uk/interpro/entry/IPR017990 InterPro IPR019570 http://www.ebi.ac.uk/interpro/entry/IPR019570 Jabion 57165 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=57165 KEGG_Disease H00266 http://www.genome.jp/dbget-bin/www_bget?H00266 KEGG_Disease H00679 http://www.genome.jp/dbget-bin/www_bget?H00679 KEGG_Gene hsa:57165 http://www.genome.jp/dbget-bin/www_bget?hsa:57165 KEGG_Orthology KO:K07619 http://www.genome.jp/dbget-bin/www_bget?KO:K07619 MIM 608803 http://www.ncbi.nlm.nih.gov/omim/608803 MIM 608804 http://www.ncbi.nlm.nih.gov/omim/608804 MIM 613206 http://www.ncbi.nlm.nih.gov/omim/613206 MIM 613480 http://www.ncbi.nlm.nih.gov/omim/613480 OMA DRDSPPC http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=DRDSPPC Orphanet 280282 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=280282 Orphanet 320401 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=320401 Orphanet 79452 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=79452 OrthoDB EOG091G08B8 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G08B8 PANTHER PTHR11984 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11984 PRINTS PR00206 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00206 PROSITE PS00407 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00407 PROSITE PS00408 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00408 PSORT swissprot:CXG2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CXG2_HUMAN PSORT-B swissprot:CXG2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CXG2_HUMAN PSORT2 swissprot:CXG2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CXG2_HUMAN Pfam PF00029 http://pfam.xfam.org/family/PF00029 PharmGKB PA162389696 http://www.pharmgkb.org/do/serve?objId=PA162389696&objCls=Gene Phobius swissprot:CXG2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CXG2_HUMAN PhylomeDB Q5T442 http://phylomedb.org/?seqid=Q5T442 ProteinModelPortal Q5T442 http://www.proteinmodelportal.org/query/uniprot/Q5T442 PubMed 15192806 http://www.ncbi.nlm.nih.gov/pubmed/15192806 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 19056803 http://www.ncbi.nlm.nih.gov/pubmed/19056803 PubMed 20537300 http://www.ncbi.nlm.nih.gov/pubmed/20537300 Reactome R-HSA-190861 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-190861 RefSeq NP_065168 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_065168 SMART SM00037 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00037 SMART SM01089 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM01089 STRING 9606.ENSP00000355675 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000355675&targetmode=cogs UCSC uc001hsk http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001hsk&org=rat UniGene Hs.100072 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.100072 UniGene Hs.743715 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.743715 UniProtKB CXG2_HUMAN http://www.uniprot.org/uniprot/CXG2_HUMAN UniProtKB-AC Q5T442 http://www.uniprot.org/uniprot/Q5T442 charge swissprot:CXG2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CXG2_HUMAN eggNOG ENOG410IFK3 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IFK3 eggNOG ENOG410Z7PN http://eggnogapi.embl.de/nog_data/html/tree/ENOG410Z7PN epestfind swissprot:CXG2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CXG2_HUMAN garnier swissprot:CXG2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CXG2_HUMAN helixturnhelix swissprot:CXG2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CXG2_HUMAN hmoment swissprot:CXG2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CXG2_HUMAN iep swissprot:CXG2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CXG2_HUMAN inforesidue swissprot:CXG2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CXG2_HUMAN neXtProt NX_Q5T442 http://www.nextprot.org/db/entry/NX_Q5T442 octanol swissprot:CXG2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CXG2_HUMAN pepcoil swissprot:CXG2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CXG2_HUMAN pepdigest swissprot:CXG2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CXG2_HUMAN pepinfo swissprot:CXG2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CXG2_HUMAN pepnet swissprot:CXG2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CXG2_HUMAN pepstats swissprot:CXG2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CXG2_HUMAN pepwheel swissprot:CXG2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CXG2_HUMAN pepwindow swissprot:CXG2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CXG2_HUMAN sigcleave swissprot:CXG2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CXG2_HUMAN ## Database ID URL or Descriptions # AltName ITPR3_HUMAN IP3 receptor isoform 3 # AltName ITPR3_HUMAN Type 3 inositol 1,4,5-trisphosphate receptor # BioGrid 109915 49 # ChiTaRS ITPR3 human # DOMAIN ITPR3_HUMAN The receptor contains a calcium channel in its C-terminal extremity. Its large N-terminal cytoplasmic region has the ligand- binding site in the N-terminus and modulatory sites in the middle portion immediately upstream of the channel region. # DrugBank DB00201 Caffeine # Ensembl ENST00000374316 ENSP00000363435; ENSG00000096433 # Ensembl ENST00000605930 ENSP00000475177; ENSG00000096433 # FUNCTION ITPR3_HUMAN Receptor for inositol 1,4,5-trisphosphate, a second messenger that mediates the release of intracellular calcium. # GO_component GO:0005640 nuclear outer membrane; ISS:BHF-UCL. # GO_component GO:0005654 nucleoplasm; IEA:Ensembl. # GO_component GO:0005730 nucleolus; IEA:Ensembl. # GO_component GO:0005737 cytoplasm; ISS:BHF-UCL. # GO_component GO:0005783 endoplasmic reticulum; ISS:BHF-UCL. # GO_component GO:0005789 endoplasmic reticulum membrane; IDA:UniProtKB. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0005887 integral component of plasma membrane; IDA:BHF-UCL. # GO_component GO:0005903 brush border; ISS:BHF-UCL. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0016529 sarcoplasmic reticulum; IBA:GO_Central. # GO_component GO:0030667 secretory granule membrane; IBA:GO_Central. # GO_component GO:0031095 platelet dense tubular network membrane; TAS:Reactome. # GO_component GO:0043025 neuronal cell body; ISS:BHF-UCL. # GO_component GO:0043209 myelin sheath; ISS:BHF-UCL. # GO_component GO:0043235 receptor complex; IDA:MGI. # GO_component GO:0045177 apical part of cell; ISS:BHF-UCL. # GO_function GO:0000822 inositol hexakisphosphate binding; ISS:BHF-UCL. # GO_function GO:0005220 inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity; ISS:UniProtKB. # GO_function GO:0005509 calcium ion binding; IBA:GO_Central. # GO_function GO:0015278 calcium-release channel activity; ISS:UniProtKB. # GO_function GO:0035091 phosphatidylinositol binding; IBA:GO_Central. # GO_function GO:0043533 inositol 1,3,4,5 tetrakisphosphate binding; ISS:BHF-UCL. # GO_function GO:0070679 inositol 1,4,5 trisphosphate binding; IDA:BHF-UCL. # GO_process GO:0007186 G-protein coupled receptor signaling pathway; ISS:BHF-UCL. # GO_process GO:0007204 positive regulation of cytosolic calcium ion concentration; ISS:BHF-UCL. # GO_process GO:0007613 memory; IEA:Ensembl. # GO_process GO:0030168 platelet activation; TAS:Reactome. # GO_process GO:0050796 regulation of insulin secretion; TAS:Reactome. # GO_process GO:0050913 sensory perception of bitter taste; IEA:Ensembl. # GO_process GO:0050916 sensory perception of sweet taste; IEA:Ensembl. # GO_process GO:0050917 sensory perception of umami taste; IEA:Ensembl. # GO_process GO:0051260 protein homooligomerization; ISS:BHF-UCL. # GO_process GO:0051291 protein heterooligomerization; ISS:BHF-UCL. # GO_process GO:0051592 response to calcium ion; IDA:BHF-UCL. # GO_process GO:0060291 long-term synaptic potentiation; IEA:Ensembl. # GO_process GO:0060402 calcium ion transport into cytosol; ISS:UniProtKB. # GO_process GO:1903779 regulation of cardiac conduction; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005654 nucleoplasm # GOslim_component GO:0005730 nucleolus # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0008289 lipid binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0050877 neurological system process # Gene3D 1.25.10.30 -; 2. # Genevisible Q14573 HS # HGNC HGNC:6182 ITPR3 # INTERACTION ITPR3_HUMAN Q13507 TRPC3; NbExp=5; IntAct=EBI-351055, EBI-520807; # IntAct Q14573 29 # InterPro IPR000493 InsP3_rcpt-bd # InterPro IPR000699 RIH_dom # InterPro IPR005821 Ion_trans_dom # InterPro IPR013662 RIH_assoc-dom # InterPro IPR014821 Ins145_P3_rcpt # InterPro IPR015925 Ryanodine_recept-rel # InterPro IPR016093 MIR_motif # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02000 Transporters # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00408 [Metabolic disease; Immune system disease; Endocrine disease] Type I diabetes mellitus # KEGG_Pathway ko04020 Calcium signaling pathway # KEGG_Pathway ko04070 Phosphatidylinositol signaling system # KEGG_Pathway ko04114 Oocyte meiosis # KEGG_Pathway ko04270 Vascular smooth muscle contraction # KEGG_Pathway ko04540 Gap junction # KEGG_Pathway ko04713 Circadian entrainment # KEGG_Pathway ko04720 Long-term potentiation # KEGG_Pathway ko04723 Retrograde endocannabinoid signaling # KEGG_Pathway ko04724 Glutamatergic synapse # KEGG_Pathway ko04725 Cholinergic synapse # KEGG_Pathway ko04726 Serotonergic synapse # KEGG_Pathway ko04728 Dopaminergic synapse # KEGG_Pathway ko04730 Long-term depression # KEGG_Pathway ko04742 Taste transduction # KEGG_Pathway ko04912 GnRH signaling pathway # KEGG_Pathway ko04970 Salivary secretion # KEGG_Pathway ko04971 Gastric acid secretion # KEGG_Pathway ko04972 Pancreatic secretion # KEGG_Pathway ko05010 Alzheimer's disease # MIM 147267 gene # Organism ITPR3_HUMAN Homo sapiens (Human) # PANTHER PTHR13715 PTHR13715; 2 # PIR A49873 A49873 # PRINTS PR00779 INSP3RECEPTR # PROSITE PS50919 MIR; 5 # PTM ITPR3_HUMAN Phosphorylated on tyrosine residues. Phosphorylated by AKT1 on serine and/or threonine residues (By similarity). {ECO 0000250}. # Pfam PF00520 Ion_trans # Pfam PF01365 RYDR_ITPR; 2 # Pfam PF02815 MIR # Pfam PF08454 RIH_assoc # Pfam PF08709 Ins145_P3_rec # Proteomes UP000005640 Chromosome 6 # Reactome R-HSA-112043 PLC beta mediated events # Reactome R-HSA-114508 Effects of PIP2 hydrolysis # Reactome R-HSA-139853 Elevation of cytosolic Ca2+ levels # Reactome R-HSA-1489509 DAG and IP3 signaling # Reactome R-HSA-2029485 Role of phospholipids in phagocytosis # Reactome R-HSA-2871809 FCERI mediated Ca+2 mobilization # Reactome R-HSA-381676 Glucagon-like Peptide-1 (GLP1) regulates insulin secretion # Reactome R-HSA-4086398 Ca2+ pathway # Reactome R-HSA-422356 Regulation of insulin secretion # Reactome R-HSA-5218921 VEGFR2 mediated cell proliferation # Reactome R-HSA-5578775 Ion homeostasis # Reactome R-HSA-5607763 CLEC7A (Dectin-1) induces NFAT activation # Reactome R-HSA-983695 Antigen activates B Cell Receptor (BCR) leading to generation of second messengers # RecName ITPR3_HUMAN Inositol 1,4,5-trisphosphate receptor type 3 # RefSeq NP_002215 NM_002224.3 # SIMILARITY Belongs to the InsP3 receptor family. {ECO 0000305}. # SIMILARITY Contains 5 MIR domains. {ECO:0000255|PROSITE- ProRule PRU00131}. # SMART SM00472 MIR; 4 # SUBCELLULAR LOCATION ITPR3_HUMAN Endoplasmic reticulum membrane; Multi-pass membrane protein. # SUBUNIT ITPR3_HUMAN Homotetramer. Interacts with TRPC1, TRPC3 and TRPC4. Interacts with TRPV4 (PubMed 18826956). Interacts with SIGMAR1 (By similarity). Interacts with PML and AKT1 (By similarity). Interacts with LRMP (via coiled-coil domain) (By similarity). Interacts with CABP1 (PubMed 12032348). Interacts with TMBIM4/LFG4 (PubMed 19553469). Interacts with CEMIP (PubMed 23936024). Interacts with TESPA1 (By similarity). Interacts with TMEM203 (PubMed 25996873). Interacts with BOK; regulates ITPR3 expression (By similarity). {ECO 0000250|UniProtKB P70227, ECO 0000250|UniProtKB Q63269, ECO 0000269|PubMed 12032348, ECO 0000269|PubMed 18826956, ECO 0000269|PubMed 19553469, ECO 0000269|PubMed 23936024, ECO 0000269|PubMed 25996873}. # SUPFAM SSF100909 SSF100909; 2 # SUPFAM SSF82109 SSF82109; 2 # TISSUE SPECIFICITY ITPR3_HUMAN Expressed in intestinal crypt and villus epithelial cells. # UCSC uc063nyh human # eggNOG ENOG410XR97 LUCA # eggNOG KOG3533 Eukaryota BLAST swissprot:ITPR3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ITPR3_HUMAN BioCyc ZFISH:ENSG00000096433-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000096433-MONOMER COXPRESdb 3710 http://coxpresdb.jp/data/gene/3710.shtml CleanEx HS_ITPR3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ITPR3 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature02055 http://dx.doi.org/10.1038/nature02055 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1073/pnas.102006299 http://dx.doi.org/10.1073/pnas.102006299 DOI 10.1074/jbc.C800184200 http://dx.doi.org/10.1074/jbc.C800184200 DOI 10.1091/mbc.E09-05-0385 http://dx.doi.org/10.1091/mbc.E09-05-0385 DOI 10.1126/scisignal.2000007 http://dx.doi.org/10.1126/scisignal.2000007 DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DOI 10.1371/journal.pone.0069473 http://dx.doi.org/10.1371/journal.pone.0069473 DOI 10.1371/journal.pone.0127480 http://dx.doi.org/10.1371/journal.pone.0127480 DrugBank DB00201 http://www.drugbank.ca/drugs/DB00201 EMBL AL139044 http://www.ebi.ac.uk/ena/data/view/AL139044 EMBL CH471081 http://www.ebi.ac.uk/ena/data/view/CH471081 EMBL D26351 http://www.ebi.ac.uk/ena/data/view/D26351 EMBL U01062 http://www.ebi.ac.uk/ena/data/view/U01062 Ensembl ENST00000374316 http://www.ensembl.org/id/ENST00000374316 Ensembl ENST00000605930 http://www.ensembl.org/id/ENST00000605930 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005640 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005640 GO_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GO_component GO:0005730 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005730 GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GO_component GO:0005789 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005789 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0005903 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005903 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016529 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016529 GO_component GO:0030667 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030667 GO_component GO:0031095 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031095 GO_component GO:0043025 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043025 GO_component GO:0043209 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043209 GO_component GO:0043235 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043235 GO_component GO:0045177 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045177 GO_function GO:0000822 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000822 GO_function GO:0005220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005220 GO_function GO:0005509 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005509 GO_function GO:0015278 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015278 GO_function GO:0035091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035091 GO_function GO:0043533 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043533 GO_function GO:0070679 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070679 GO_process GO:0007186 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007186 GO_process GO:0007204 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007204 GO_process GO:0007613 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007613 GO_process GO:0030168 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030168 GO_process GO:0050796 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050796 GO_process GO:0050913 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050913 GO_process GO:0050916 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050916 GO_process GO:0050917 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050917 GO_process GO:0051260 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051260 GO_process GO:0051291 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051291 GO_process GO:0051592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051592 GO_process GO:0060291 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060291 GO_process GO:0060402 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060402 GO_process GO:1903779 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903779 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GOslim_component GO:0005730 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005730 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0008289 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008289 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 Gene3D 1.25.10.30 http://www.cathdb.info/version/latest/superfamily/1.25.10.30 GeneCards ITPR3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ITPR3 GeneID 3710 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=3710 GeneTree ENSGT00760000119152 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119152 H-InvDB HIX0005781 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0005781 HGNC HGNC:6182 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6182 HOGENOM HOG000007660 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000007660&db=HOGENOM6 HOVERGEN HBG052158 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052158&db=HOVERGEN HPA HPA003915 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA003915 HPA HPA064704 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA064704 InParanoid Q14573 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q14573 IntAct Q14573 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q14573* InterPro IPR000493 http://www.ebi.ac.uk/interpro/entry/IPR000493 InterPro IPR000699 http://www.ebi.ac.uk/interpro/entry/IPR000699 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR013662 http://www.ebi.ac.uk/interpro/entry/IPR013662 InterPro IPR014821 http://www.ebi.ac.uk/interpro/entry/IPR014821 InterPro IPR015925 http://www.ebi.ac.uk/interpro/entry/IPR015925 InterPro IPR016093 http://www.ebi.ac.uk/interpro/entry/IPR016093 Jabion 3710 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=3710 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00408 http://www.genome.jp/dbget-bin/www_bget?H00408 KEGG_Gene hsa:3710 http://www.genome.jp/dbget-bin/www_bget?hsa:3710 KEGG_Orthology KO:K04960 http://www.genome.jp/dbget-bin/www_bget?KO:K04960 KEGG_Pathway ko04020 http://www.genome.jp/kegg-bin/show_pathway?ko04020 KEGG_Pathway ko04070 http://www.genome.jp/kegg-bin/show_pathway?ko04070 KEGG_Pathway ko04114 http://www.genome.jp/kegg-bin/show_pathway?ko04114 KEGG_Pathway ko04270 http://www.genome.jp/kegg-bin/show_pathway?ko04270 KEGG_Pathway ko04540 http://www.genome.jp/kegg-bin/show_pathway?ko04540 KEGG_Pathway ko04713 http://www.genome.jp/kegg-bin/show_pathway?ko04713 KEGG_Pathway ko04720 http://www.genome.jp/kegg-bin/show_pathway?ko04720 KEGG_Pathway ko04723 http://www.genome.jp/kegg-bin/show_pathway?ko04723 KEGG_Pathway ko04724 http://www.genome.jp/kegg-bin/show_pathway?ko04724 KEGG_Pathway ko04725 http://www.genome.jp/kegg-bin/show_pathway?ko04725 KEGG_Pathway ko04726 http://www.genome.jp/kegg-bin/show_pathway?ko04726 KEGG_Pathway ko04728 http://www.genome.jp/kegg-bin/show_pathway?ko04728 KEGG_Pathway ko04730 http://www.genome.jp/kegg-bin/show_pathway?ko04730 KEGG_Pathway ko04742 http://www.genome.jp/kegg-bin/show_pathway?ko04742 KEGG_Pathway ko04912 http://www.genome.jp/kegg-bin/show_pathway?ko04912 KEGG_Pathway ko04970 http://www.genome.jp/kegg-bin/show_pathway?ko04970 KEGG_Pathway ko04971 http://www.genome.jp/kegg-bin/show_pathway?ko04971 KEGG_Pathway ko04972 http://www.genome.jp/kegg-bin/show_pathway?ko04972 KEGG_Pathway ko05010 http://www.genome.jp/kegg-bin/show_pathway?ko05010 MIM 147267 http://www.ncbi.nlm.nih.gov/omim/147267 MINT MINT-4991384 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-4991384 OMA FVHELFY http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=FVHELFY OrthoDB EOG091G00T2 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G00T2 PANTHER PTHR13715 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR13715 PRINTS PR00779 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00779 PROSITE PS50919 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50919 PSORT swissprot:ITPR3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ITPR3_HUMAN PSORT-B swissprot:ITPR3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ITPR3_HUMAN PSORT2 swissprot:ITPR3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ITPR3_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF01365 http://pfam.xfam.org/family/PF01365 Pfam PF02815 http://pfam.xfam.org/family/PF02815 Pfam PF08454 http://pfam.xfam.org/family/PF08454 Pfam PF08709 http://pfam.xfam.org/family/PF08709 PharmGKB PA29980 http://www.pharmgkb.org/do/serve?objId=PA29980&objCls=Gene Phobius swissprot:ITPR3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ITPR3_HUMAN PhylomeDB Q14573 http://phylomedb.org/?seqid=Q14573 ProteinModelPortal Q14573 http://www.proteinmodelportal.org/query/uniprot/Q14573 PubMed 12032348 http://www.ncbi.nlm.nih.gov/pubmed/12032348 PubMed 14574404 http://www.ncbi.nlm.nih.gov/pubmed/14574404 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 18826956 http://www.ncbi.nlm.nih.gov/pubmed/18826956 PubMed 19553469 http://www.ncbi.nlm.nih.gov/pubmed/19553469 PubMed 19690332 http://www.ncbi.nlm.nih.gov/pubmed/19690332 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 23936024 http://www.ncbi.nlm.nih.gov/pubmed/23936024 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 25996873 http://www.ncbi.nlm.nih.gov/pubmed/25996873 PubMed 8081734 http://www.ncbi.nlm.nih.gov/pubmed/8081734 PubMed 8288584 http://www.ncbi.nlm.nih.gov/pubmed/8288584 Reactome R-HSA-112043 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-112043 Reactome R-HSA-114508 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-114508 Reactome R-HSA-139853 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-139853 Reactome R-HSA-1489509 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1489509 Reactome R-HSA-2029485 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2029485 Reactome R-HSA-2871809 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2871809 Reactome R-HSA-381676 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-381676 Reactome R-HSA-4086398 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-4086398 Reactome R-HSA-422356 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-422356 Reactome R-HSA-5218921 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5218921 Reactome R-HSA-5578775 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5578775 Reactome R-HSA-5607763 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5607763 Reactome R-HSA-983695 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-983695 RefSeq NP_002215 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_002215 SMART SM00472 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00472 STRING 9606.ENSP00000363435 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000363435&targetmode=cogs SUPFAM SSF100909 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF100909 SUPFAM SSF82109 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF82109 UCSC uc063nyh http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc063nyh&org=rat UniGene Hs.65758 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.65758 UniProtKB ITPR3_HUMAN http://www.uniprot.org/uniprot/ITPR3_HUMAN UniProtKB-AC Q14573 http://www.uniprot.org/uniprot/Q14573 charge swissprot:ITPR3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ITPR3_HUMAN eggNOG ENOG410XR97 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XR97 eggNOG KOG3533 http://eggnogapi.embl.de/nog_data/html/tree/KOG3533 epestfind swissprot:ITPR3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ITPR3_HUMAN garnier swissprot:ITPR3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ITPR3_HUMAN helixturnhelix swissprot:ITPR3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ITPR3_HUMAN hmoment swissprot:ITPR3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ITPR3_HUMAN iep swissprot:ITPR3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ITPR3_HUMAN inforesidue swissprot:ITPR3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ITPR3_HUMAN neXtProt NX_Q14573 http://www.nextprot.org/db/entry/NX_Q14573 octanol swissprot:ITPR3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ITPR3_HUMAN pepcoil swissprot:ITPR3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ITPR3_HUMAN pepdigest swissprot:ITPR3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ITPR3_HUMAN pepinfo swissprot:ITPR3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ITPR3_HUMAN pepnet swissprot:ITPR3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ITPR3_HUMAN pepstats swissprot:ITPR3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ITPR3_HUMAN pepwheel swissprot:ITPR3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ITPR3_HUMAN pepwindow swissprot:ITPR3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ITPR3_HUMAN sigcleave swissprot:ITPR3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ITPR3_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS CNGA3_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q16281-1; Sequence=Displayed; Name=2; IsoId=Q16281-2; Sequence=VSP_042525; Note=No experimental confirmation available.; Name=3; IsoId=Q16281-3; Sequence=VSP_057075; Note=No experimental confirmation available.; # AltName CNGA3_HUMAN Cone photoreceptor cGMP-gated channel subunit alpha # AltName CNGA3_HUMAN Cyclic nucleotide-gated channel alpha-3 # BioGrid 107661 25 # CCDS CCDS2034 -. [Q16281-1] # CCDS CCDS42719 -. [Q16281-2] # DISEASE CNGA3_HUMAN Achromatopsia 2 (ACHM2) [MIM 216900] An ocular stationary disorder due to the absence of functioning cone photoreceptors in the retina. It is characterized by total colorblindness, low visual acuity, photophobia and nystagmus. {ECO 0000269|PubMed 11536077, ECO 0000269|PubMed 14757870, ECO 0000269|PubMed 15712225, ECO 0000269|PubMed 18521937, ECO 0000269|PubMed 24903488, ECO 0000269|PubMed 26493561, ECO 0000269|PubMed 9662398}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DOMAIN CNGA3_HUMAN The C-terminal coiled-coil domain mediates homotrimerization of CNGA subunits. # Ensembl ENST00000272602 ENSP00000272602; ENSG00000144191. [Q16281-1] # Ensembl ENST00000393504 ENSP00000377140; ENSG00000144191. [Q16281-1] # Ensembl ENST00000409937 ENSP00000386761; ENSG00000144191. [Q16281-3] # Ensembl ENST00000436404 ENSP00000410070; ENSG00000144191. [Q16281-2] # FUNCTION CNGA3_HUMAN Visual signal transduction is mediated by a G-protein coupled cascade using cGMP as second messenger. This protein can be activated by cyclic GMP which leads to an opening of the cation channel and thereby causing a depolarization of cone photoreceptors. Induced a flickering channel gating, weakened the outward rectification in the presence of extracellular calcium, increased sensitivity for L-cis diltiazem and enhanced the cAMP efficacy of the channel when coexpressed with CNGB3 (By similarity). Essential for the generation of light-evoked electrical responses in the red-, green- and blue sensitive cones. {ECO 0000250, ECO 0000269|PubMed 10888875}. # GO_component GO:0005737 cytoplasm; IEA:Ensembl. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0030425 dendrite; IEA:Ensembl. # GO_component GO:0042622 photoreceptor outer segment membrane; IEA:Ensembl. # GO_component GO:0043204 perikaryon; IEA:Ensembl. # GO_component GO:1902495 transmembrane transporter complex; IDA:UniProtKB. # GO_function GO:0005222 intracellular cAMP activated cation channel activity; IBA:GO_Central. # GO_function GO:0005223 intracellular cGMP activated cation channel activity; IMP:UniProtKB. # GO_function GO:0005249 voltage-gated potassium channel activity; IBA:GO_Central. # GO_function GO:0015276 ligand-gated ion channel activity; TAS:ProtInc. # GO_function GO:0030553 cGMP binding; IMP:UniProtKB. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0006812 cation transport; IMP:UniProtKB. # GO_process GO:0007165 signal transduction; TAS:ProtInc. # GO_process GO:0007601 visual perception; TAS:ProtInc. # GO_process GO:0031960 response to corticosteroid; IEA:Ensembl. # GO_process GO:0032026 response to magnesium ion; IEA:Ensembl. # GO_process GO:0042391 regulation of membrane potential; IBA:GO_Central. # GO_process GO:0051591 response to cAMP; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0050877 neurological system process # Gene3D 2.60.120.10 -; 1. # Genevisible Q16281 HS # HGNC HGNC:2150 CNGA3 # InterPro IPR000595 cNMP-bd_dom # InterPro IPR005821 Ion_trans_dom # InterPro IPR014710 RmlC-like_jellyroll # InterPro IPR018488 cNMP-bd_CS # InterPro IPR018490 cNMP-bd-like # InterPro IPR032406 CLZ_dom # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00971 [Eye disease] Rod monochromacy # KEGG_Pathway ko04740 Olfactory transduction # MIM 216900 phenotype # MIM 600053 gene # Organism CNGA3_HUMAN Homo sapiens (Human) # Orphanet 1872 Cone rod dystrophy # Orphanet 49382 Achromatopsia # PDB 3SWY X-ray; 1.90 A; A/B/C=626-669 # PIR I78560 I78560 # PIR S74179 S74179 # PROSITE PS00888 CNMP_BINDING_1 # PROSITE PS00889 CNMP_BINDING_2 # PROSITE PS50042 CNMP_BINDING_3 # Pfam PF00027 cNMP_binding # Pfam PF00520 Ion_trans # Pfam PF16526 CLZ # Proteomes UP000005640 Chromosome 2 # RecName CNGA3_HUMAN Cyclic nucleotide-gated cation channel alpha-3 # RefSeq NP_001073347 NM_001079878.1. [Q16281-2] # RefSeq NP_001289 NM_001298.2. [Q16281-1] # SIMILARITY Belongs to the cyclic nucleotide-gated cation channel (TC 1.A.1.5) family. CNGA3 subfamily. {ECO 0000305}. # SIMILARITY Contains 1 cyclic nucleotide-binding domain. {ECO:0000255|PROSITE-ProRule PRU00060}. # SMART SM00100 cNMP # SUBCELLULAR LOCATION CNGA3_HUMAN Membrane; Multi-pass membrane protein. # SUBUNIT CNGA3_HUMAN Tetramer formed of three CNGA3 and one CNGB3 modulatory subunits. {ECO 0000269|PubMed 10888875, ECO 0000269|PubMed 15134637, ECO 0000269|PubMed 21878911}. # SUPFAM SSF51206 SSF51206 # TCDB 1.A.1.5.12 the voltage-gated ion channel (vic) superfamily # TISSUE SPECIFICITY CNGA3_HUMAN Prominently expressed in retina. # UCSC uc002syt human. [Q16281-1] # WEB RESOURCE CNGA3_HUMAN Name=Mutations of the CNGA3 gene; Note=Retina International's Scientific Newsletter; URL="http //www.retina-international.org/files/sci-news/cnga3mut.htm"; # eggNOG ENOG410YWWI LUCA # eggNOG KOG0500 Eukaryota BLAST swissprot:CNGA3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CNGA3_HUMAN BioCyc ZFISH:ENSG00000144191-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000144191-MONOMER COXPRESdb 1261 http://coxpresdb.jp/data/gene/1261.shtml CleanEx HS_CNGA3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CNGA3 DOI 10.1001/jamaophthalmol.2014.1032 http://dx.doi.org/10.1001/jamaophthalmol.2014.1032 DOI 10.1002/humu.20142 http://dx.doi.org/10.1002/humu.20142 DOI 10.1002/humu.20790 http://dx.doi.org/10.1002/humu.20790 DOI 10.1002/humu.21587 http://dx.doi.org/10.1002/humu.21587 DOI 10.1016/0028-3908(94)90027-2 http://dx.doi.org/10.1016/0028-3908(94)90027-2 DOI 10.1016/S0896-6273(04)00225-9 http://dx.doi.org/10.1016/S0896-6273(04)00225-9 DOI 10.1038/77162 http://dx.doi.org/10.1038/77162 DOI 10.1038/935 http://dx.doi.org/10.1038/935 DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1038/ncomms1466 http://dx.doi.org/10.1038/ncomms1466 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1056/NEJMoa1206524 http://dx.doi.org/10.1056/NEJMoa1206524 DOI 10.1086/323613 http://dx.doi.org/10.1086/323613 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1460-9568.1997.tb01680.x http://dx.doi.org/10.1111/j.1460-9568.1997.tb01680.x DOI 10.1136/jmg.2003.011437 http://dx.doi.org/10.1136/jmg.2003.011437 DOI 10.1152/ajpcell.00490.2004 http://dx.doi.org/10.1152/ajpcell.00490.2004 DOI 10.1186/s12967-015-0694-7 http://dx.doi.org/10.1186/s12967-015-0694-7 EMBL AC092675 http://www.ebi.ac.uk/ena/data/view/AC092675 EMBL AF065314 http://www.ebi.ac.uk/ena/data/view/AF065314 EMBL AK131300 http://www.ebi.ac.uk/ena/data/view/AK131300 EMBL BC096298 http://www.ebi.ac.uk/ena/data/view/BC096298 EMBL BC096299 http://www.ebi.ac.uk/ena/data/view/BC096299 EMBL BC096300 http://www.ebi.ac.uk/ena/data/view/BC096300 EMBL S76069 http://www.ebi.ac.uk/ena/data/view/S76069 Ensembl ENST00000272602 http://www.ensembl.org/id/ENST00000272602 Ensembl ENST00000393504 http://www.ensembl.org/id/ENST00000393504 Ensembl ENST00000409937 http://www.ensembl.org/id/ENST00000409937 Ensembl ENST00000436404 http://www.ensembl.org/id/ENST00000436404 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0030425 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030425 GO_component GO:0042622 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042622 GO_component GO:0043204 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043204 GO_component GO:1902495 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902495 GO_function GO:0005222 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005222 GO_function GO:0005223 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005223 GO_function GO:0005249 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005249 GO_function GO:0015276 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015276 GO_function GO:0030553 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030553 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0006812 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006812 GO_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GO_process GO:0007601 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007601 GO_process GO:0031960 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031960 GO_process GO:0032026 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032026 GO_process GO:0042391 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042391 GO_process GO:0051591 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051591 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 Gene3D 2.60.120.10 http://www.cathdb.info/version/latest/superfamily/2.60.120.10 GeneCards CNGA3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CNGA3 GeneID 1261 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=1261 GeneTree ENSGT00760000118772 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118772 HGNC HGNC:2150 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:2150 HOGENOM HOG000007898 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000007898&db=HOGENOM6 HOVERGEN HBG000281 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG000281&db=HOVERGEN InParanoid Q16281 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q16281 IntAct Q16281 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q16281* InterPro IPR000595 http://www.ebi.ac.uk/interpro/entry/IPR000595 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR014710 http://www.ebi.ac.uk/interpro/entry/IPR014710 InterPro IPR018488 http://www.ebi.ac.uk/interpro/entry/IPR018488 InterPro IPR018490 http://www.ebi.ac.uk/interpro/entry/IPR018490 InterPro IPR032406 http://www.ebi.ac.uk/interpro/entry/IPR032406 Jabion 1261 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=1261 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00971 http://www.genome.jp/dbget-bin/www_bget?H00971 KEGG_Gene hsa:1261 http://www.genome.jp/dbget-bin/www_bget?hsa:1261 KEGG_Orthology KO:K04950 http://www.genome.jp/dbget-bin/www_bget?KO:K04950 KEGG_Pathway ko04740 http://www.genome.jp/kegg-bin/show_pathway?ko04740 MIM 216900 http://www.ncbi.nlm.nih.gov/omim/216900 MIM 600053 http://www.ncbi.nlm.nih.gov/omim/600053 OMA YLWANRK http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=YLWANRK Orphanet 1872 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1872 Orphanet 49382 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=49382 OrthoDB EOG091G03EW http://cegg.unige.ch/orthodb/results?searchtext=EOG091G03EW PDB 3SWY http://www.ebi.ac.uk/pdbe-srv/view/entry/3SWY PDBsum 3SWY http://www.ebi.ac.uk/pdbsum/3SWY PROSITE PS00888 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00888 PROSITE PS00889 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00889 PROSITE PS50042 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50042 PSORT swissprot:CNGA3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CNGA3_HUMAN PSORT-B swissprot:CNGA3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CNGA3_HUMAN PSORT2 swissprot:CNGA3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CNGA3_HUMAN Pfam PF00027 http://pfam.xfam.org/family/PF00027 Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF16526 http://pfam.xfam.org/family/PF16526 PharmGKB PA26660 http://www.pharmgkb.org/do/serve?objId=PA26660&objCls=Gene Phobius swissprot:CNGA3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CNGA3_HUMAN PhylomeDB Q16281 http://phylomedb.org/?seqid=Q16281 ProteinModelPortal Q16281 http://www.proteinmodelportal.org/query/uniprot/Q16281 PubMed 10888875 http://www.ncbi.nlm.nih.gov/pubmed/10888875 PubMed 11536077 http://www.ncbi.nlm.nih.gov/pubmed/11536077 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 14757870 http://www.ncbi.nlm.nih.gov/pubmed/14757870 PubMed 15134637 http://www.ncbi.nlm.nih.gov/pubmed/15134637 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15712225 http://www.ncbi.nlm.nih.gov/pubmed/15712225 PubMed 15743887 http://www.ncbi.nlm.nih.gov/pubmed/15743887 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 PubMed 18521937 http://www.ncbi.nlm.nih.gov/pubmed/18521937 PubMed 21878911 http://www.ncbi.nlm.nih.gov/pubmed/21878911 PubMed 21901789 http://www.ncbi.nlm.nih.gov/pubmed/21901789 PubMed 23033978 http://www.ncbi.nlm.nih.gov/pubmed/23033978 PubMed 24903488 http://www.ncbi.nlm.nih.gov/pubmed/24903488 PubMed 26493561 http://www.ncbi.nlm.nih.gov/pubmed/26493561 PubMed 7532814 http://www.ncbi.nlm.nih.gov/pubmed/7532814 PubMed 9517456 http://www.ncbi.nlm.nih.gov/pubmed/9517456 PubMed 9662398 http://www.ncbi.nlm.nih.gov/pubmed/9662398 RefSeq NP_001073347 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001073347 RefSeq NP_001289 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001289 SMART SM00100 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00100 SMR Q16281 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q16281 STRING 9606.ENSP00000272602 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000272602&targetmode=cogs SUPFAM SSF51206 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF51206 TCDB 1.A.1.5.12 http://www.tcdb.org/search/result.php?tc=1.A.1.5.12 UCSC uc002syt http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002syt&org=rat UniGene Hs.234785 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.234785 UniProtKB CNGA3_HUMAN http://www.uniprot.org/uniprot/CNGA3_HUMAN UniProtKB-AC Q16281 http://www.uniprot.org/uniprot/Q16281 charge swissprot:CNGA3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CNGA3_HUMAN eggNOG ENOG410YWWI http://eggnogapi.embl.de/nog_data/html/tree/ENOG410YWWI eggNOG KOG0500 http://eggnogapi.embl.de/nog_data/html/tree/KOG0500 epestfind swissprot:CNGA3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CNGA3_HUMAN garnier swissprot:CNGA3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CNGA3_HUMAN helixturnhelix swissprot:CNGA3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CNGA3_HUMAN hmoment swissprot:CNGA3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CNGA3_HUMAN iep swissprot:CNGA3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CNGA3_HUMAN inforesidue swissprot:CNGA3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CNGA3_HUMAN neXtProt NX_Q16281 http://www.nextprot.org/db/entry/NX_Q16281 octanol swissprot:CNGA3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CNGA3_HUMAN pepcoil swissprot:CNGA3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CNGA3_HUMAN pepdigest swissprot:CNGA3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CNGA3_HUMAN pepinfo swissprot:CNGA3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CNGA3_HUMAN pepnet swissprot:CNGA3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CNGA3_HUMAN pepstats swissprot:CNGA3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CNGA3_HUMAN pepwheel swissprot:CNGA3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CNGA3_HUMAN pepwindow swissprot:CNGA3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CNGA3_HUMAN sigcleave swissprot:CNGA3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CNGA3_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS AZIN2_HUMAN Event=Alternative splicing; Named isoforms=5; Comment=Additional isoforms seem to exist.; Name=1; IsoId=Q96A70-1; Sequence=Displayed; Name=2; IsoId=Q96A70-2; Sequence=VSP_003756; Name=3; IsoId=Q96A70-3; Sequence=VSP_003757, VSP_003758; Name=4; IsoId=Q96A70-4; Sequence=VSP_003755, VSP_003757, VSP_003758; Name=6; IsoId=Q96A70-5; Sequence=VSP_003754, VSP_003757, VSP_003758; # AltName AZIN2_HUMAN Arginine decarboxylase # AltName AZIN2_HUMAN Ornithine decarboxylase-like protein # AltName AZIN2_HUMAN ornithine decarboxylase paralog # BRENDA 4.1.1.17 2681 # BRENDA 4.1.1.19 2681 # BioGrid 125246 10 # CAUTION AZIN2_HUMAN Was initially reported to have ornithine decarboxylase (PubMed 11587527) or arginine decarboxylase (PubMed 14738999) activities, but it was later found that the mouse ortholog does not possess either of them. {ECO 0000305|PubMed 11587527, ECO 0000305|PubMed 14738999}. # CCDS CCDS375 -. [Q96A70-1] # CCDS CCDS76138 -. [Q96A70-2] # DOMAIN AZIN2_HUMAN The N-terminus domain is necessary for its localization to the ER-Golgi intermediate compartment (ERGIC). {ECO 0000250}. # DrugBank DB00125 L-Arginine # Ensembl ENST00000294517 ENSP00000294517; ENSG00000142920. [Q96A70-1] # Ensembl ENST00000373440 ENSP00000362539; ENSG00000142920. [Q96A70-5] # Ensembl ENST00000373441 ENSP00000362540; ENSG00000142920. [Q96A70-2] # Ensembl ENST00000373443 ENSP00000362542; ENSG00000142920. [Q96A70-1] # FUNCTION AZIN2_HUMAN Antizyme inhibitor protein that positively regulates ornithine decarboxylase (ODC) activity and polyamine uptake by counteracting the negative effect of antizymes OAZ1, OAZ2 and OAZ3 on ODC1 activity (PubMed 17900240). Inhibits antizyme-dependent ODC1 degradation by binding to antizymes. Releases ODC1 from its inactive complex with antizymes, leading to formation of the catalytically active ODC1. Participates in the morphological integrity of the trans-Golgi network (TGN) and functions as a regulator of intracellular secretory vesicle trafficking (PubMed 20188728). {ECO 0000269|PubMed 14738999, ECO 0000269|PubMed 17900240, ECO 0000269|PubMed 20188728}. # GO_component GO:0005634 nucleus; IDA:UniProtKB. # GO_component GO:0005739 mitochondrion; IEA:Ensembl. # GO_component GO:0005801 cis-Golgi network; ISS:UniProtKB. # GO_component GO:0005802 trans-Golgi network; IDA:UniProtKB. # GO_component GO:0005829 cytosol; TAS:Reactome. # GO_component GO:0030133 transport vesicle; IMP:UniProtKB. # GO_component GO:0030424 axon; IDA:UniProtKB. # GO_component GO:0030425 dendrite; IDA:UniProtKB. # GO_component GO:0031410 cytoplasmic vesicle; IDA:UniProtKB. # GO_component GO:0033116 endoplasmic reticulum-Golgi intermediate compartment membrane; ISS:UniProtKB. # GO_component GO:0043204 perikaryon; IDA:UniProtKB. # GO_component GO:0048471 perinuclear region of cytoplasm; IDA:UniProtKB. # GO_component GO:1990005 granular vesicle; IDA:UniProtKB. # GO_function GO:0008792 arginine decarboxylase activity; TAS:Reactome. # GO_function GO:0015489 putrescine transmembrane transporter activity; ISS:UniProtKB. # GO_function GO:0042978 ornithine decarboxylase activator activity; IDA:UniProtKB. # GO_process GO:0007283 spermatogenesis; NAS:UniProtKB. # GO_process GO:0015847 putrescine transport; ISS:UniProtKB. # GO_process GO:0033387 putrescine biosynthetic process from ornithine; IBA:GO_Central. # GO_process GO:0042177 negative regulation of protein catabolic process; IDA:UniProtKB. # GO_process GO:0043085 positive regulation of catalytic activity; ISS:UniProtKB. # GO_process GO:0097055 agmatine biosynthetic process; TAS:Reactome. # GO_process GO:0098629 trans-Golgi network membrane organization; IMP:UniProtKB. # GO_process GO:1902269 positive regulation of polyamine transmembrane transport; ISS:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005739 mitochondrion # GOslim_component GO:0005829 cytosol # GOslim_component GO:0031410 cytoplasmic vesicle # GOslim_component GO:0043226 organelle # GOslim_function GO:0016829 lyase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0030234 enzyme regulator activity # GOslim_process GO:0006520 cellular amino acid metabolic process # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0061024 membrane organization # Gene3D 2.40.37.10 -; 1. # Gene3D 3.20.20.10 -; 1. # Genevisible Q96A70 HS # HGNC HGNC:29957 AZIN2 # INTERACTION AZIN2_HUMAN Q9UMX2 OAZ3; NbExp=5; IntAct=EBI-10281609, EBI-10281601; Q9UMX2-2 OAZ3; NbExp=4; IntAct=EBI-10281609, EBI-12049527; # InterPro IPR000183 Orn/DAP/Arg_de-COase # InterPro IPR002433 Orn_de-COase # InterPro IPR009006 Ala_racemase/Decarboxylase_C # InterPro IPR022643 De-COase2_C # InterPro IPR022644 De-COase2_N # InterPro IPR022653 De-COase2_pyr-phos_BS # InterPro IPR022657 De-COase2_CS # InterPro IPR029066 PLP-binding_barrel # InterPro IPR031173 Azin2 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Brite ko01000 Enzymes # KEGG_Pathway ko00330 Arginine and proline metabolism # MIM 608353 gene # Organism AZIN2_HUMAN Homo sapiens (Human) # PANTHER PTHR11482:SF4 PTHR11482:SF4 # PRINTS PR01179 ODADCRBXLASE # PRINTS PR01182 ORNDCRBXLASE # PROSITE PS00878 ODR_DC_2_1 # PROSITE PS00879 ODR_DC_2_2 # PTM AZIN2_HUMAN Ubiquitinated, leading to its proteosomal degradation; a process that is reduced in presence of antizymes. May also be degraded through the lysosomal degradative pathway in a proteosomal-independent manner. {ECO 0000269|PubMed 17900240}. # Pfam PF00278 Orn_DAP_Arg_deC # Pfam PF02784 Orn_Arg_deC_N # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-351143 Agmatine biosynthesis # RecName AZIN2_HUMAN Antizyme inhibitor 2 # RefSeq NP_001280491 NM_001293562.1. [Q96A70-1] # RefSeq NP_001288752 NM_001301823.1 # RefSeq NP_001288753 NM_001301824.1 # RefSeq NP_001288754 NM_001301825.1. [Q96A70-2] # RefSeq NP_001288755 NM_001301826.1. [Q96A70-3] # RefSeq NP_443724 NM_052998.3. [Q96A70-1] # RefSeq XP_005270461 XM_005270404.2. [Q96A70-1] # RefSeq XP_005270464 XM_005270407.1 # RefSeq XP_011538865 XM_011540563.1. [Q96A70-3] # RefSeq XP_016855657 XM_017000168.1 # RefSeq XP_016855658 XM_017000169.1 # RefSeq XP_016855659 XM_017000170.1 # RefSeq XP_016855660 XM_017000171.1 # RefSeq XP_016855661 XM_017000172.1 # RefSeq XP_016855662 XM_017000173.1 # RefSeq XP_016855664 XM_017000175.1 # SIMILARITY Belongs to the Orn/Lys/Arg decarboxylase class-II family. ODC antizyme inhibitor subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION AZIN2_HUMAN Nucleus. Cytoplasm {ECO 0000250}. Cytoplasm, perinuclear region. Membrane {ECO 0000250}. Cytoplasmic vesicle. Endoplasmic reticulum-Golgi intermediate compartment {ECO 0000250}. Golgi apparatus, cis-Golgi network {ECO 0000250}. Golgi apparatus, trans-Golgi network. Cytoplasmic granule. Cell projection, axon. Cell projection, dendrite. Perikaryon. Note=Colocalizes with KDEL receptors in ER-Golgi intermediate compartment (ERGIC). Translocates from the ERGIC structure to the cytoplasm in an antizyme-dependent manner. Localizes with vesicle- associated membrane protein VAMP8 in the vicinity of the plasma membrane within serotonin-containing secretory granules (By similarity). Detected as vesicle-like pattern in neurite outgrowths. Localizes to the vesicular compartments of the secretory pathway, predominantly in the trans-Golgi network (TGN). Localizes with vesicle-associated membrane protein VAMP8 in the vicinity of the plasma membrane within serotonin-containing secretory granules. {ECO 0000250}. # SUBUNIT Interacts with OAZ1, OAZ2 and OAZ3; the interactions stabilize the complex by inhibiting AZIN2 ubiquitination and degradation. Does not form a heterodimer with ODC1 (By similarity). Monomer. Interaction with OAZ1, OAZ2 and OAZ3; the interactions lead to increased ornithine decarboxylase (ODC) activity and decreased rate of ODC1 degradation. {ECO:0000250, ECO 0000269|PubMed:17900240}. # SUPFAM SSF50621 SSF50621 # SUPFAM SSF51419 SSF51419 # TISSUE SPECIFICITY AZIN2_HUMAN Expressed in the neocortex, thalamus, hippocampus, cerebellum, medulla oblongata, gray and white matter. Expressed in neurons, oligodendrocytes, basket, Purkinje and pyramidal cells. Expressed in spermatocytes and Leydig cells of the testis. Expressed in luteal theca cells lining corpus luteum cysts and in hilus cells of the ovary. Expressed in primary and neoplastic mast cells (MC) (at protein level). Highly expressed in brain. Also expressed in testis. {ECO 0000269|PubMed 11587527, ECO 0000269|PubMed 14738999, ECO 0000269|PubMed 19718454, ECO 0000269|PubMed 19756694, ECO 0000269|PubMed 19832840}. # UCSC uc001bwr human. [Q96A70-1] # eggNOG COG0019 LUCA # eggNOG KOG0622 Eukaryota BLAST swissprot:AZIN2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:AZIN2_HUMAN BioCyc MetaCyc:HS06971-MONOMER http://biocyc.org/getid?id=MetaCyc:HS06971-MONOMER BioCyc ZFISH:HS06971-MONOMER http://biocyc.org/getid?id=ZFISH:HS06971-MONOMER COXPRESdb 113451 http://coxpresdb.jp/data/gene/113451.shtml DOI 10.1006/bbrc.2001.5703 http://dx.doi.org/10.1006/bbrc.2001.5703 DOI 10.1007/s00418-009-0636-7 http://dx.doi.org/10.1007/s00418-009-0636-7 DOI 10.1007/s00726-009-0419-4 http://dx.doi.org/10.1007/s00726-009-0419-4 DOI 10.1016/j.bbagen.2003.11.006 http://dx.doi.org/10.1016/j.bbagen.2003.11.006 DOI 10.1016/j.yexcr.2010.02.021 http://dx.doi.org/10.1016/j.yexcr.2010.02.021 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1042/BJ20071004 http://dx.doi.org/10.1042/BJ20071004 DOI 10.1093/dnares/8.6.319 http://dx.doi.org/10.1093/dnares/8.6.319 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1750-3639.2009.00334.x http://dx.doi.org/10.1111/j.1750-3639.2009.00334.x DOI 10.1371/journal.pone.0006858 http://dx.doi.org/10.1371/journal.pone.0006858 DrugBank DB00125 http://www.drugbank.ca/drugs/DB00125 EMBL AB075825 http://www.ebi.ac.uk/ena/data/view/AB075825 EMBL AK057051 http://www.ebi.ac.uk/ena/data/view/AK057051 EMBL AK095127 http://www.ebi.ac.uk/ena/data/view/AK095127 EMBL AK315677 http://www.ebi.ac.uk/ena/data/view/AK315677 EMBL AL020995 http://www.ebi.ac.uk/ena/data/view/AL020995 EMBL AL020995 http://www.ebi.ac.uk/ena/data/view/AL020995 EMBL AL020995 http://www.ebi.ac.uk/ena/data/view/AL020995 EMBL AY050634 http://www.ebi.ac.uk/ena/data/view/AY050634 EMBL AY050635 http://www.ebi.ac.uk/ena/data/view/AY050635 EMBL AY050636 http://www.ebi.ac.uk/ena/data/view/AY050636 EMBL AY050637 http://www.ebi.ac.uk/ena/data/view/AY050637 EMBL AY050638 http://www.ebi.ac.uk/ena/data/view/AY050638 EMBL AY325129 http://www.ebi.ac.uk/ena/data/view/AY325129 EMBL BC010449 http://www.ebi.ac.uk/ena/data/view/BC010449 EMBL BC028128 http://www.ebi.ac.uk/ena/data/view/BC028128 EMBL CH471059 http://www.ebi.ac.uk/ena/data/view/CH471059 EMBL CH471059 http://www.ebi.ac.uk/ena/data/view/CH471059 Ensembl ENST00000294517 http://www.ensembl.org/id/ENST00000294517 Ensembl ENST00000373440 http://www.ensembl.org/id/ENST00000373440 Ensembl ENST00000373441 http://www.ensembl.org/id/ENST00000373441 Ensembl ENST00000373443 http://www.ensembl.org/id/ENST00000373443 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005801 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005801 GO_component GO:0005802 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005802 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0030133 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030133 GO_component GO:0030424 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030424 GO_component GO:0030425 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030425 GO_component GO:0031410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410 GO_component GO:0033116 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033116 GO_component GO:0043204 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043204 GO_component GO:0048471 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048471 GO_component GO:1990005 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1990005 GO_function GO:0008792 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008792 GO_function GO:0015489 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015489 GO_function GO:0042978 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042978 GO_process GO:0007283 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007283 GO_process GO:0015847 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015847 GO_process GO:0033387 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033387 GO_process GO:0042177 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042177 GO_process GO:0043085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043085 GO_process GO:0097055 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097055 GO_process GO:0098629 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0098629 GO_process GO:1902269 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902269 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0031410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0016829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016829 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0030234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030234 GOslim_process GO:0006520 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006520 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0061024 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061024 Gene3D 2.40.37.10 http://www.cathdb.info/version/latest/superfamily/2.40.37.10 Gene3D 3.20.20.10 http://www.cathdb.info/version/latest/superfamily/3.20.20.10 GeneCards AZIN2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=AZIN2 GeneID 113451 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=113451 GeneTree ENSGT00390000011560 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000011560 HGNC HGNC:29957 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:29957 HOVERGEN HBG005456 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG005456&db=HOVERGEN HPA HPA028045 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA028045 HPA HPA028527 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA028527 InParanoid Q96A70 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q96A70 IntAct Q96A70 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q96A70* InterPro IPR000183 http://www.ebi.ac.uk/interpro/entry/IPR000183 InterPro IPR002433 http://www.ebi.ac.uk/interpro/entry/IPR002433 InterPro IPR009006 http://www.ebi.ac.uk/interpro/entry/IPR009006 InterPro IPR022643 http://www.ebi.ac.uk/interpro/entry/IPR022643 InterPro IPR022644 http://www.ebi.ac.uk/interpro/entry/IPR022644 InterPro IPR022653 http://www.ebi.ac.uk/interpro/entry/IPR022653 InterPro IPR022657 http://www.ebi.ac.uk/interpro/entry/IPR022657 InterPro IPR029066 http://www.ebi.ac.uk/interpro/entry/IPR029066 InterPro IPR031173 http://www.ebi.ac.uk/interpro/entry/IPR031173 Jabion 113451 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=113451 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00002 http://www.genome.jp/dbget-bin/www_bget?ko00002 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Gene hsa:113451 http://www.genome.jp/dbget-bin/www_bget?hsa:113451 KEGG_Orthology KO:K01583 http://www.genome.jp/dbget-bin/www_bget?KO:K01583 KEGG_Pathway ko00330 http://www.genome.jp/kegg-bin/show_pathway?ko00330 KEGG_Reaction rn:R00566 http://www.genome.jp/dbget-bin/www_bget?rn:R00566 MIM 608353 http://www.ncbi.nlm.nih.gov/omim/608353 OMA SHMEVVG http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=SHMEVVG OrthoDB EOG091G0AJV http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0AJV PANTHER PTHR11482:SF4 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11482:SF4 PRINTS PR01179 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01179 PRINTS PR01182 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01182 PROSITE PS00878 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00878 PROSITE PS00879 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00879 PSORT swissprot:AZIN2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:AZIN2_HUMAN PSORT-B swissprot:AZIN2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:AZIN2_HUMAN PSORT2 swissprot:AZIN2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:AZIN2_HUMAN Pfam PF00278 http://pfam.xfam.org/family/PF00278 Pfam PF02784 http://pfam.xfam.org/family/PF02784 PharmGKB PA142672642 http://www.pharmgkb.org/do/serve?objId=PA142672642&objCls=Gene Phobius swissprot:AZIN2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:AZIN2_HUMAN PhylomeDB Q96A70 http://phylomedb.org/?seqid=Q96A70 ProteinModelPortal Q96A70 http://www.proteinmodelportal.org/query/uniprot/Q96A70 PubMed 11587527 http://www.ncbi.nlm.nih.gov/pubmed/11587527 PubMed 11853319 http://www.ncbi.nlm.nih.gov/pubmed/11853319 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 14738999 http://www.ncbi.nlm.nih.gov/pubmed/14738999 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 17900240 http://www.ncbi.nlm.nih.gov/pubmed/17900240 PubMed 19718454 http://www.ncbi.nlm.nih.gov/pubmed/19718454 PubMed 19756694 http://www.ncbi.nlm.nih.gov/pubmed/19756694 PubMed 19832840 http://www.ncbi.nlm.nih.gov/pubmed/19832840 PubMed 19956990 http://www.ncbi.nlm.nih.gov/pubmed/19956990 PubMed 20188728 http://www.ncbi.nlm.nih.gov/pubmed/20188728 Reactome R-HSA-351143 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-351143 RefSeq NP_001280491 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001280491 RefSeq NP_001288752 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001288752 RefSeq NP_001288753 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001288753 RefSeq NP_001288754 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001288754 RefSeq NP_001288755 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001288755 RefSeq NP_443724 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_443724 RefSeq XP_005270461 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005270461 RefSeq XP_005270464 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005270464 RefSeq XP_011538865 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011538865 RefSeq XP_016855657 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016855657 RefSeq XP_016855658 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016855658 RefSeq XP_016855659 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016855659 RefSeq XP_016855660 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016855660 RefSeq XP_016855661 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016855661 RefSeq XP_016855662 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016855662 RefSeq XP_016855664 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016855664 SMR Q96A70 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q96A70 STRING 9606.ENSP00000294517 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000294517&targetmode=cogs SUPFAM SSF50621 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF50621 SUPFAM SSF51419 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF51419 UCSC uc001bwr http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001bwr&org=rat UniGene Hs.101807 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.101807 UniProtKB AZIN2_HUMAN http://www.uniprot.org/uniprot/AZIN2_HUMAN UniProtKB-AC Q96A70 http://www.uniprot.org/uniprot/Q96A70 charge swissprot:AZIN2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:AZIN2_HUMAN eggNOG COG0019 http://eggnogapi.embl.de/nog_data/html/tree/COG0019 eggNOG KOG0622 http://eggnogapi.embl.de/nog_data/html/tree/KOG0622 epestfind swissprot:AZIN2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:AZIN2_HUMAN garnier swissprot:AZIN2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:AZIN2_HUMAN helixturnhelix swissprot:AZIN2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:AZIN2_HUMAN hmoment swissprot:AZIN2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:AZIN2_HUMAN iep swissprot:AZIN2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:AZIN2_HUMAN inforesidue swissprot:AZIN2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:AZIN2_HUMAN neXtProt NX_Q96A70 http://www.nextprot.org/db/entry/NX_Q96A70 octanol swissprot:AZIN2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:AZIN2_HUMAN pepcoil swissprot:AZIN2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:AZIN2_HUMAN pepdigest swissprot:AZIN2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:AZIN2_HUMAN pepinfo swissprot:AZIN2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:AZIN2_HUMAN pepnet swissprot:AZIN2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:AZIN2_HUMAN pepstats swissprot:AZIN2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:AZIN2_HUMAN pepwheel swissprot:AZIN2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:AZIN2_HUMAN pepwindow swissprot:AZIN2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:AZIN2_HUMAN sigcleave swissprot:AZIN2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:AZIN2_HUMAN ## Database ID URL or Descriptions # AltName GBRR3_HUMAN GABA(A) receptor subunit rho-3 # AltName GBRR3_HUMAN GABA(C) receptor # DrugBank DB00231 Temazepam # DrugBank DB00546 Adinazolam # DrugBank DB00683 Midazolam # DrugBank DB00690 Flurazepam # DrugBank DB00801 Halazepam # DrugBank DB00829 Diazepam # DrugBank DB00842 Oxazepam # DrugBank DB00897 Triazolam # DrugBank DB01215 Estazolam # DrugBank DB01558 Bromazepam # DrugBank DB01559 Clotiazepam # DrugBank DB01567 Fludiazepam # DrugBank DB01588 Prazepam # DrugBank DB01589 Quazepam # DrugBank DB01594 Cinolazepam # DrugBank DB01595 Nitrazepam # Ensembl ENST00000472788 ENSP00000420790; ENSG00000183185 # Ensembl ENST00000621172 ENSP00000481321; ENSG00000183185 # FUNCTION GBRR3_HUMAN GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel. {ECO 0000250}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0034707 chloride channel complex; IEA:UniProtKB-KW. # GO_component GO:0045211 postsynaptic membrane; IEA:UniProtKB-SubCell. # GO_component GO:1902711 GABA-A receptor complex; IBA:GO_Central. # GO_function GO:0004890 GABA-A receptor activity; NAS:UniProtKB. # GO_function GO:0005230 extracellular ligand-gated ion channel activity; IEA:InterPro. # GO_function GO:0005254 chloride channel activity; IEA:UniProtKB-KW. # GO_process GO:0007214 gamma-aminobutyric acid signaling pathway; NAS:UniProtKB. # GO_process GO:0007268 chemical synaptic transmission; NAS:UniProtKB. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0055085 transmembrane transport # Gene3D 2.70.170.10 -; 1. # Genevisible A8MPY1 HS # HGNC HGNC:17969 GABRR3 # InterPro IPR006028 GABAA/Glycine_rcpt # InterPro IPR006029 Neurotrans-gated_channel_TM # InterPro IPR006201 Neur_channel # InterPro IPR006202 Neur_chan_lig-bd # InterPro IPR018000 Neurotransmitter_ion_chnl_CS # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04080 Neuroactive ligand-receptor interaction # KEGG_Pathway ko04723 Retrograde endocannabinoid signaling # KEGG_Pathway ko04727 GABAergic synapse # KEGG_Pathway ko05032 Morphine addiction # KEGG_Pathway ko05033 Nicotine addiction # Organism GBRR3_HUMAN Homo sapiens (Human) # PANTHER PTHR18945 PTHR18945; 2 # PRINTS PR00252 NRIONCHANNEL # PRINTS PR00253 GABAARECEPTR # PROSITE PS00236 NEUROTR_ION_CHANNEL # Pfam PF02931 Neur_chan_LBD # Pfam PF02932 Neur_chan_memb # Proteomes UP000005640 Chromosome 3 # Reactome R-HSA-975298 Ligand-gated ion channel transport # Reactome R-HSA-977442 GABA A (rho) receptor activation # RecName GBRR3_HUMAN Gamma-aminobutyric acid receptor subunit rho-3 # RefSeq NP_001099050 NM_001105580.2 # SIMILARITY Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRR3 sub-subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION GBRR3_HUMAN Cell junction, synapse, postsynaptic cell membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. Cell membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. # SUBUNIT Generally pentameric. There are five types of GABA(A) receptor chains: alpha, beta, gamma, delta, and rho. Forms a ternary complex with SQSTM1 and PRKCZ (By similarity). {ECO 0000250}. # SUPFAM SSF63712 SSF63712 # SUPFAM SSF90112 SSF90112 # TIGRFAMs TIGR00860 LIC # UCSC uc021xbo human # eggNOG ENOG410XPWH LUCA # eggNOG KOG3643 Eukaryota BLAST swissprot:GBRR3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:GBRR3_HUMAN BioCyc ZFISH:G66-31893-MONOMER http://biocyc.org/getid?id=ZFISH:G66-31893-MONOMER COXPRESdb 200959 http://coxpresdb.jp/data/gene/200959.shtml CleanEx HS_GABRR3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_GABRR3 DOI 10.1016/S0167-4781(99)00167-0 http://dx.doi.org/10.1016/S0167-4781(99)00167-0 DOI 10.1038/nature04728 http://dx.doi.org/10.1038/nature04728 DrugBank DB00231 http://www.drugbank.ca/drugs/DB00231 DrugBank DB00546 http://www.drugbank.ca/drugs/DB00546 DrugBank DB00683 http://www.drugbank.ca/drugs/DB00683 DrugBank DB00690 http://www.drugbank.ca/drugs/DB00690 DrugBank DB00801 http://www.drugbank.ca/drugs/DB00801 DrugBank DB00829 http://www.drugbank.ca/drugs/DB00829 DrugBank DB00842 http://www.drugbank.ca/drugs/DB00842 DrugBank DB00897 http://www.drugbank.ca/drugs/DB00897 DrugBank DB01215 http://www.drugbank.ca/drugs/DB01215 DrugBank DB01558 http://www.drugbank.ca/drugs/DB01558 DrugBank DB01559 http://www.drugbank.ca/drugs/DB01559 DrugBank DB01567 http://www.drugbank.ca/drugs/DB01567 DrugBank DB01588 http://www.drugbank.ca/drugs/DB01588 DrugBank DB01589 http://www.drugbank.ca/drugs/DB01589 DrugBank DB01594 http://www.drugbank.ca/drugs/DB01594 DrugBank DB01595 http://www.drugbank.ca/drugs/DB01595 EMBL AC026100 http://www.ebi.ac.uk/ena/data/view/AC026100 EMBL Y18994 http://www.ebi.ac.uk/ena/data/view/Y18994 Ensembl ENST00000472788 http://www.ensembl.org/id/ENST00000472788 Ensembl ENST00000621172 http://www.ensembl.org/id/ENST00000621172 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0034707 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034707 GO_component GO:0045211 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045211 GO_component GO:1902711 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902711 GO_function GO:0004890 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004890 GO_function GO:0005230 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005230 GO_function GO:0005254 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005254 GO_process GO:0007214 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007214 GO_process GO:0007268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007268 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 2.70.170.10 http://www.cathdb.info/version/latest/superfamily/2.70.170.10 GeneCards GABRR3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=GABRR3 GeneID 200959 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=200959 GeneTree ENSGT00760000118821 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118821 HGNC HGNC:17969 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:17969 HOVERGEN HBG051707 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG051707&db=HOVERGEN InParanoid A8MPY1 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=A8MPY1 InterPro IPR006028 http://www.ebi.ac.uk/interpro/entry/IPR006028 InterPro IPR006029 http://www.ebi.ac.uk/interpro/entry/IPR006029 InterPro IPR006201 http://www.ebi.ac.uk/interpro/entry/IPR006201 InterPro IPR006202 http://www.ebi.ac.uk/interpro/entry/IPR006202 InterPro IPR018000 http://www.ebi.ac.uk/interpro/entry/IPR018000 Jabion 200959 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=200959 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:200959 http://www.genome.jp/dbget-bin/www_bget?hsa:200959 KEGG_Orthology KO:K05190 http://www.genome.jp/dbget-bin/www_bget?KO:K05190 KEGG_Pathway ko04080 http://www.genome.jp/kegg-bin/show_pathway?ko04080 KEGG_Pathway ko04723 http://www.genome.jp/kegg-bin/show_pathway?ko04723 KEGG_Pathway ko04727 http://www.genome.jp/kegg-bin/show_pathway?ko04727 KEGG_Pathway ko05032 http://www.genome.jp/kegg-bin/show_pathway?ko05032 KEGG_Pathway ko05033 http://www.genome.jp/kegg-bin/show_pathway?ko05033 OMA MDFTMTF http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=MDFTMTF OrthoDB EOG091G0805 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0805 PANTHER PTHR18945 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR18945 PRINTS PR00252 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00252 PRINTS PR00253 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00253 PROSITE PS00236 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00236 PSORT swissprot:GBRR3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:GBRR3_HUMAN PSORT-B swissprot:GBRR3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:GBRR3_HUMAN PSORT2 swissprot:GBRR3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:GBRR3_HUMAN Pfam PF02931 http://pfam.xfam.org/family/PF02931 Pfam PF02932 http://pfam.xfam.org/family/PF02932 PharmGKB PA134952133 http://www.pharmgkb.org/do/serve?objId=PA134952133&objCls=Gene Phobius swissprot:GBRR3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:GBRR3_HUMAN PhylomeDB A8MPY1 http://phylomedb.org/?seqid=A8MPY1 ProteinModelPortal A8MPY1 http://www.proteinmodelportal.org/query/uniprot/A8MPY1 PubMed 10542332 http://www.ncbi.nlm.nih.gov/pubmed/10542332 PubMed 16641997 http://www.ncbi.nlm.nih.gov/pubmed/16641997 Reactome R-HSA-975298 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-975298 Reactome R-HSA-977442 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-977442 RefSeq NP_001099050 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001099050 STRING 9606.ENSP00000471569 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000471569&targetmode=cogs SUPFAM SSF63712 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF63712 SUPFAM SSF90112 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF90112 TIGRFAMs TIGR00860 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00860 UCSC uc021xbo http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc021xbo&org=rat UniGene Hs.534578 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.534578 UniProtKB GBRR3_HUMAN http://www.uniprot.org/uniprot/GBRR3_HUMAN UniProtKB-AC A8MPY1 http://www.uniprot.org/uniprot/A8MPY1 charge swissprot:GBRR3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:GBRR3_HUMAN eggNOG ENOG410XPWH http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XPWH eggNOG KOG3643 http://eggnogapi.embl.de/nog_data/html/tree/KOG3643 epestfind swissprot:GBRR3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:GBRR3_HUMAN garnier swissprot:GBRR3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:GBRR3_HUMAN helixturnhelix swissprot:GBRR3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:GBRR3_HUMAN hmoment swissprot:GBRR3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:GBRR3_HUMAN iep swissprot:GBRR3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:GBRR3_HUMAN inforesidue swissprot:GBRR3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:GBRR3_HUMAN neXtProt NX_A8MPY1 http://www.nextprot.org/db/entry/NX_A8MPY1 octanol swissprot:GBRR3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:GBRR3_HUMAN pepcoil swissprot:GBRR3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:GBRR3_HUMAN pepdigest swissprot:GBRR3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:GBRR3_HUMAN pepinfo swissprot:GBRR3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:GBRR3_HUMAN pepnet swissprot:GBRR3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:GBRR3_HUMAN pepstats swissprot:GBRR3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:GBRR3_HUMAN pepwheel swissprot:GBRR3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:GBRR3_HUMAN pepwindow swissprot:GBRR3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:GBRR3_HUMAN sigcleave swissprot:GBRR3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:GBRR3_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS MOT6_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O15375-1; Sequence=Displayed; Name=2; IsoId=O15375-2; Sequence=VSP_056660, VSP_056661; Note=No experimental confirmation available.; # AltName MOT6_HUMAN Monocarboxylate transporter 5 # AltName MOT6_HUMAN Solute carrier family 16 member 5 # CCDS CCDS11713 -. [O15375-1] # CDD cd06174 MFS # DrugBank DB00119 Pyruvic acid # Ensembl ENST00000329783 ENSP00000330141; ENSG00000170190. [O15375-1] # Ensembl ENST00000450736 ENSP00000390564; ENSG00000170190. [O15375-1] # Ensembl ENST00000538213 ENSP00000440212; ENSG00000170190. [O15375-2] # Ensembl ENST00000580123 ENSP00000463434; ENSG00000170190. [O15375-1] # ExpressionAtlas O15375 baseline and differential # FUNCTION MOT6_HUMAN Proton-linked monocarboxylate transporter. Catalyzes the rapid transport across the plasma membrane of many monocarboxylates such as lactate, pyruvate, branched-chain oxo acids derived from leucine, valine and isoleucine, and the ketone bodies acetoacetate, beta-hydroxybutyrate and acetate (By similarity). {ECO 0000250}. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0016020 membrane; TAS:ProtInc. # GO_function GO:0008028 monocarboxylic acid transmembrane transporter activity; TAS:ProtInc. # GO_function GO:0015129 lactate transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015293 symporter activity; IEA:UniProtKB-KW. # GO_process GO:0015718 monocarboxylic acid transport; TAS:ProtInc. # GO_process GO:0035879 plasma membrane lactate transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0055085 transmembrane transport # Genevisible O15375 HS # HGNC HGNC:10926 SLC16A5 # InterPro IPR004743 MCT # InterPro IPR011701 MFS # InterPro IPR020846 MFS_dom # InterPro IPR030760 MCT6 # KEGG_Brite ko02000 Transporters # KEGG_Brite ko02001 Solute carrier family # MIM 603879 gene # Organism MOT6_HUMAN Homo sapiens (Human) # PANTHER PTHR11360:SF21 PTHR11360:SF21 # PROSITE PS50850 MFS # Pfam PF07690 MFS_1 # Proteomes UP000005640 Chromosome 17 # RecName MOT6_HUMAN Monocarboxylate transporter 6 # RefSeq NP_001258694 NM_001271765.1. [O15375-1] # RefSeq NP_004686 NM_004695.3. [O15375-1] # SIMILARITY Belongs to the major facilitator superfamily. Monocarboxylate porter (TC 2.A.1.13) family. {ECO 0000305}. # SUBCELLULAR LOCATION MOT6_HUMAN Cell membrane; Multi-pass membrane protein. # SUPFAM SSF103473 SSF103473 # TCDB 2.A.1.13.11 the major facilitator superfamily (mfs) # TIGRFAMs TIGR00892 2A0113 # TISSUE SPECIFICITY MOT6_HUMAN Highly expressed in kidney. # UCSC uc002jmr human. [O15375-1] # eggNOG COG0477 LUCA # eggNOG KOG2504 Eukaryota BLAST swissprot:MOT6_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:MOT6_HUMAN BioCyc ZFISH:ENSG00000170190-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000170190-MONOMER COXPRESdb 9121 http://coxpresdb.jp/data/gene/9121.shtml CleanEx HS_SLC16A5 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC16A5 DOI 10.1038/nature04689 http://dx.doi.org/10.1038/nature04689 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1042/bj3290321 http://dx.doi.org/10.1042/bj3290321 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DrugBank DB00119 http://www.drugbank.ca/drugs/DB00119 EMBL AC111186 http://www.ebi.ac.uk/ena/data/view/AC111186 EMBL AK304163 http://www.ebi.ac.uk/ena/data/view/AK304163 EMBL BC009684 http://www.ebi.ac.uk/ena/data/view/BC009684 EMBL BC033611 http://www.ebi.ac.uk/ena/data/view/BC033611 EMBL U59299 http://www.ebi.ac.uk/ena/data/view/U59299 Ensembl ENST00000329783 http://www.ensembl.org/id/ENST00000329783 Ensembl ENST00000450736 http://www.ensembl.org/id/ENST00000450736 Ensembl ENST00000538213 http://www.ensembl.org/id/ENST00000538213 Ensembl ENST00000580123 http://www.ensembl.org/id/ENST00000580123 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_function GO:0008028 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008028 GO_function GO:0015129 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015129 GO_function GO:0015293 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015293 GO_process GO:0015718 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015718 GO_process GO:0035879 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035879 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC16A5 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC16A5 GeneID 9121 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=9121 GeneTree ENSGT00760000118926 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118926 HGNC HGNC:10926 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10926 HOGENOM HOG000280688 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000280688&db=HOGENOM6 HOVERGEN HBG006384 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG006384&db=HOVERGEN HPA HPA046944 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA046944 InParanoid O15375 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O15375 InterPro IPR004743 http://www.ebi.ac.uk/interpro/entry/IPR004743 InterPro IPR011701 http://www.ebi.ac.uk/interpro/entry/IPR011701 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 InterPro IPR030760 http://www.ebi.ac.uk/interpro/entry/IPR030760 Jabion 9121 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=9121 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:9121 http://www.genome.jp/dbget-bin/www_bget?hsa:9121 KEGG_Orthology KO:K08182 http://www.genome.jp/dbget-bin/www_bget?KO:K08182 MIM 603879 http://www.ncbi.nlm.nih.gov/omim/603879 OMA AYSVSMS http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=AYSVSMS OrthoDB EOG091G05SW http://cegg.unige.ch/orthodb/results?searchtext=EOG091G05SW PANTHER PTHR11360:SF21 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11360:SF21 PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PSORT swissprot:MOT6_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:MOT6_HUMAN PSORT-B swissprot:MOT6_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:MOT6_HUMAN PSORT2 swissprot:MOT6_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:MOT6_HUMAN Pfam PF07690 http://pfam.xfam.org/family/PF07690 PharmGKB PA35817 http://www.pharmgkb.org/do/serve?objId=PA35817&objCls=Gene Phobius swissprot:MOT6_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:MOT6_HUMAN PhylomeDB O15375 http://phylomedb.org/?seqid=O15375 ProteinModelPortal O15375 http://www.proteinmodelportal.org/query/uniprot/O15375 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16625196 http://www.ncbi.nlm.nih.gov/pubmed/16625196 PubMed 9425115 http://www.ncbi.nlm.nih.gov/pubmed/9425115 RefSeq NP_001258694 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001258694 RefSeq NP_004686 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004686 STRING 9606.ENSP00000330141 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000330141&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.1.13.11 http://www.tcdb.org/search/result.php?tc=2.A.1.13.11 TIGRFAMs TIGR00892 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00892 UCSC uc002jmr http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002jmr&org=rat UniGene Hs.592095 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.592095 UniProtKB MOT6_HUMAN http://www.uniprot.org/uniprot/MOT6_HUMAN UniProtKB-AC O15375 http://www.uniprot.org/uniprot/O15375 charge swissprot:MOT6_HUMAN http://rest.g-language.org/emboss/charge/swissprot:MOT6_HUMAN eggNOG COG0477 http://eggnogapi.embl.de/nog_data/html/tree/COG0477 eggNOG KOG2504 http://eggnogapi.embl.de/nog_data/html/tree/KOG2504 epestfind swissprot:MOT6_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:MOT6_HUMAN garnier swissprot:MOT6_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:MOT6_HUMAN helixturnhelix swissprot:MOT6_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:MOT6_HUMAN hmoment swissprot:MOT6_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:MOT6_HUMAN iep swissprot:MOT6_HUMAN http://rest.g-language.org/emboss/iep/swissprot:MOT6_HUMAN inforesidue swissprot:MOT6_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:MOT6_HUMAN neXtProt NX_O15375 http://www.nextprot.org/db/entry/NX_O15375 octanol swissprot:MOT6_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:MOT6_HUMAN pepcoil swissprot:MOT6_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:MOT6_HUMAN pepdigest swissprot:MOT6_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:MOT6_HUMAN pepinfo swissprot:MOT6_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:MOT6_HUMAN pepnet swissprot:MOT6_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:MOT6_HUMAN pepstats swissprot:MOT6_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:MOT6_HUMAN pepwheel swissprot:MOT6_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:MOT6_HUMAN pepwindow swissprot:MOT6_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:MOT6_HUMAN sigcleave swissprot:MOT6_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:MOT6_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS MMGT1_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8N4V1-1; Sequence=Displayed; Name=2; IsoId=Q8N4V1-2; Sequence=VSP_036488; Note=No experimental confirmation available.; # AltName MMGT1_HUMAN ER membrane protein complex subunit 5 # AltName MMGT1_HUMAN Transmembrane protein 32 # BioGrid 125021 117 # CCDS CCDS14653 -. [Q8N4V1-1] # ChiTaRS MMGT1 human # Ensembl ENST00000305963 ENSP00000306220; ENSG00000169446. [Q8N4V1-1] # FUNCTION MMGT1_HUMAN Mediates Mg(2+) transport. {ECO 0000250|UniProtKB Q8K273}. # GO_component GO:0000139 Golgi membrane; IEA:UniProtKB-SubCell. # GO_component GO:0005769 early endosome; ISS:UniProtKB. # GO_component GO:0005794 Golgi apparatus; ISS:UniProtKB. # GO_component GO:0005886 plasma membrane; IBA:GO_Central. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; IDA:UniProtKB. # GO_component GO:0031901 early endosome membrane; IEA:UniProtKB-SubCell. # GO_component GO:0072546 ER membrane protein complex; IDA:UniProtKB. # GO_function GO:0015087 cobalt ion transmembrane transporter activity; IEA:Ensembl. # GO_function GO:0015093 ferrous iron transmembrane transporter activity; IEA:Ensembl. # GO_function GO:0015095 magnesium ion transmembrane transporter activity; ISS:UniProtKB. # GO_function GO:0022890 inorganic cation transmembrane transporter activity; IBA:GO_Central. # GO_process GO:0006825 copper ion transport; IEA:Ensembl. # GO_process GO:0015693 magnesium ion transport; ISS:UniProtKB. # GO_process GO:0098655 cation transmembrane transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005768 endosome # GOslim_component GO:0005794 Golgi apparatus # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043234 protein complex # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0055085 transmembrane transport # Genevisible Q8N4V1 HS # HGNC HGNC:28100 MMGT1 # IntAct Q8N4V1 102 # InterPro IPR018937 Magnesium_transport # Organism MMGT1_HUMAN Homo sapiens (Human) # Pfam PF10270 MMgT # Proteomes UP000005640 Chromosome X # Reactome R-HSA-5223345 Miscellaneous transport and binding events # RecName MMGT1_HUMAN Membrane magnesium transporter 1 # RefSeq NP_001316929 NM_001330000.1 # RefSeq NP_775741 NM_173470.2. [Q8N4V1-1] # SIMILARITY Belongs to the membrane magnesium transporter (TC 1.A.67) family. {ECO 0000305}. # SUBCELLULAR LOCATION MMGT1_HUMAN Endoplasmic reticulum membrane {ECO 0000269|PubMed 22119785}; Multi-pass membrane protein {ECO 0000255}. Golgi apparatus membrane {ECO 0000250|UniProtKB Q8K273}; Multi-pass membrane protein {ECO 0000255}. Early endosome membrane {ECO 0000250|UniProtKB Q8K273}; Multi-pass membrane protein {ECO 0000255}. # SUBUNIT Component of the ER membrane protein complex (EMC). {ECO:0000269|PubMed 22119785}. # TopDownProteomics Q8N4V1-1 -. [Q8N4V1-1] # UCSC uc004ezi human. [Q8N4V1-1] # eggNOG ENOG4111TZW LUCA # eggNOG KOG3918 Eukaryota BLAST swissprot:MMGT1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:MMGT1_HUMAN BioCyc ZFISH:ENSG00000169446-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000169446-MONOMER COXPRESdb 93380 http://coxpresdb.jp/data/gene/93380.shtml CleanEx HS_MMGT1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_MMGT1 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature03440 http://dx.doi.org/10.1038/nature03440 DOI 10.1038/ncb2383 http://dx.doi.org/10.1038/ncb2383 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AK295829 http://www.ebi.ac.uk/ena/data/view/AK295829 EMBL AK312409 http://www.ebi.ac.uk/ena/data/view/AK312409 EMBL AL732579 http://www.ebi.ac.uk/ena/data/view/AL732579 EMBL AL953870 http://www.ebi.ac.uk/ena/data/view/AL953870 EMBL BC033588 http://www.ebi.ac.uk/ena/data/view/BC033588 EMBL CH471150 http://www.ebi.ac.uk/ena/data/view/CH471150 EMBL CH471150 http://www.ebi.ac.uk/ena/data/view/CH471150 Ensembl ENST00000305963 http://www.ensembl.org/id/ENST00000305963 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000139 GO_component GO:0005769 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005769 GO_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0031901 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031901 GO_component GO:0072546 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0072546 GO_function GO:0015087 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015087 GO_function GO:0015093 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015093 GO_function GO:0015095 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015095 GO_function GO:0022890 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022890 GO_process GO:0006825 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006825 GO_process GO:0015693 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015693 GO_process GO:0098655 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0098655 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GOslim_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards MMGT1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=MMGT1 GeneID 93380 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=93380 GeneTree ENSGT00510000047104 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00510000047104 HGNC HGNC:28100 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:28100 HOGENOM HOG000244123 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000244123&db=HOGENOM6 HOVERGEN HBG105215 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG105215&db=HOVERGEN HPA HPA032037 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA032037 InParanoid Q8N4V1 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8N4V1 IntAct Q8N4V1 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q8N4V1* InterPro IPR018937 http://www.ebi.ac.uk/interpro/entry/IPR018937 Jabion 93380 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=93380 KEGG_Gene hsa:93380 http://www.genome.jp/dbget-bin/www_bget?hsa:93380 OMA MAFAVTC http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=MAFAVTC OrthoDB EOG091G0Y35 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0Y35 PSORT swissprot:MMGT1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:MMGT1_HUMAN PSORT-B swissprot:MMGT1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:MMGT1_HUMAN PSORT2 swissprot:MMGT1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:MMGT1_HUMAN Pfam PF10270 http://pfam.xfam.org/family/PF10270 PharmGKB PA164723074 http://www.pharmgkb.org/do/serve?objId=PA164723074&objCls=Gene Phobius swissprot:MMGT1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:MMGT1_HUMAN PhylomeDB Q8N4V1 http://phylomedb.org/?seqid=Q8N4V1 ProteinModelPortal Q8N4V1 http://www.proteinmodelportal.org/query/uniprot/Q8N4V1 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15772651 http://www.ncbi.nlm.nih.gov/pubmed/15772651 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 22119785 http://www.ncbi.nlm.nih.gov/pubmed/22119785 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 Reactome R-HSA-5223345 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5223345 RefSeq NP_001316929 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001316929 RefSeq NP_775741 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_775741 STRING 9606.ENSP00000306220 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000306220&targetmode=cogs UCSC uc004ezi http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc004ezi&org=rat UniGene Hs.110702 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.110702 UniProtKB MMGT1_HUMAN http://www.uniprot.org/uniprot/MMGT1_HUMAN UniProtKB-AC Q8N4V1 http://www.uniprot.org/uniprot/Q8N4V1 charge swissprot:MMGT1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:MMGT1_HUMAN eggNOG ENOG4111TZW http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111TZW eggNOG KOG3918 http://eggnogapi.embl.de/nog_data/html/tree/KOG3918 epestfind swissprot:MMGT1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:MMGT1_HUMAN garnier swissprot:MMGT1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:MMGT1_HUMAN helixturnhelix swissprot:MMGT1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:MMGT1_HUMAN hmoment swissprot:MMGT1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:MMGT1_HUMAN iep swissprot:MMGT1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:MMGT1_HUMAN inforesidue swissprot:MMGT1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:MMGT1_HUMAN neXtProt NX_Q8N4V1 http://www.nextprot.org/db/entry/NX_Q8N4V1 octanol swissprot:MMGT1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:MMGT1_HUMAN pepcoil swissprot:MMGT1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:MMGT1_HUMAN pepdigest swissprot:MMGT1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:MMGT1_HUMAN pepinfo swissprot:MMGT1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:MMGT1_HUMAN pepnet swissprot:MMGT1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:MMGT1_HUMAN pepstats swissprot:MMGT1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:MMGT1_HUMAN pepwheel swissprot:MMGT1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:MMGT1_HUMAN pepwindow swissprot:MMGT1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:MMGT1_HUMAN sigcleave swissprot:MMGT1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:MMGT1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS MOG1_HUMAN Event=Alternative splicing; Named isoforms=4; Name=1; Synonyms=MOG1a; IsoId=Q9HD47-1; Sequence=Displayed; Name=2; Synonyms=MOG1b; IsoId=Q9HD47-2; Sequence=VSP_033060; Name=3; IsoId=Q9HD47-3; Sequence=VSP_033059, VSP_033061; Name=4; IsoId=Q9HD47-4; Sequence=VSP_033057, VSP_033058; # AltName MOG1_HUMAN Ran-binding protein MOG1 # BioGrid 118866 19 # CCDS CCDS11137 -. [Q9HD47-1] # CCDS CCDS54086 -. [Q9HD47-2] # CCDS CCDS54087 -. [Q9HD47-3] # CCDS CCDS82066 -. [Q9HD47-4] # Ensembl ENST00000226105 ENSP00000226105; ENSG00000108961. [Q9HD47-1] # Ensembl ENST00000407006 ENSP00000383940; ENSG00000108961. [Q9HD47-2] # Ensembl ENST00000439238 ENSP00000413190; ENSG00000108961. [Q9HD47-3] # Ensembl ENST00000580434 ENSP00000462310; ENSG00000108961. [Q9HD47-4] # FUNCTION MOG1_HUMAN May regulate the intracellular trafficking of RAN. In cardiac cells seems to regulate the cell surface localization of SCN5A. {ECO 0000269|PubMed 11290418, ECO 0000269|PubMed 18184654}. # GO_component GO:0005634 nucleus; IDA:UniProtKB. # GO_component GO:0005654 nucleoplasm; ISS:BHF-UCL. # GO_component GO:0005737 cytoplasm; IDA:BHF-UCL. # GO_component GO:0005791 rough endoplasmic reticulum; IDA:BHF-UCL. # GO_component GO:0005886 plasma membrane; IC:BHF-UCL. # GO_component GO:0005901 caveola; IDA:BHF-UCL. # GO_component GO:0014704 intercalated disc; ISS:BHF-UCL. # GO_function GO:0005085 guanyl-nucleotide exchange factor activity; ISS:BHF-UCL. # GO_function GO:0005087 Ran guanyl-nucleotide exchange factor activity; ISS:BHF-UCL. # GO_function GO:0008536 Ran GTPase binding; IPI:BHF-UCL. # GO_function GO:0008565 protein transporter activity; IMP:BHF-UCL. # GO_function GO:0017080 sodium channel regulator activity; IDA:BHF-UCL. # GO_function GO:0044325 ion channel binding; IPI:BHF-UCL. # GO_process GO:0002027 regulation of heart rate; TAS:BHF-UCL. # GO_process GO:0003254 regulation of membrane depolarization; IDA:BHF-UCL. # GO_process GO:0006888 ER to Golgi vesicle-mediated transport; IMP:BHF-UCL. # GO_process GO:0032527 protein exit from endoplasmic reticulum; IMP:BHF-UCL. # GO_process GO:0042391 regulation of membrane potential; IDA:BHF-UCL. # GO_process GO:0043547 positive regulation of GTPase activity; ISS:BHF-UCL. # GO_process GO:0090004 positive regulation of establishment of protein localization to plasma membrane; IMP:BHF-UCL. # GO_process GO:1900825 regulation of membrane depolarization during cardiac muscle cell action potential; TAS:BHF-UCL. # GO_process GO:1902305 regulation of sodium ion transmembrane transport; IDA:BHF-UCL. # GO_process GO:2000010 positive regulation of protein localization to cell surface; IDA:BHF-UCL. # GO_process GO:2000649 regulation of sodium ion transmembrane transporter activity; IDA:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005654 nucleoplasm # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0008565 protein transporter activity # GOslim_function GO:0019899 enzyme binding # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0016192 vesicle-mediated transport # Gene3D 3.40.1000.10 -; 1. # Genevisible Q9HD47 HS # HGNC HGNC:17679 RANGRF # IntAct Q9HD47 2 # InterPro IPR007681 Mog1 # InterPro IPR016123 Mog1/PsbP_a/b/a-sand # MIM 607954 gene # Organism MOG1_HUMAN Homo sapiens (Human) # Pfam PF04603 Mog1 # Proteomes UP000005640 Chromosome 17 # Reactome R-HSA-5576892 Phase 0 - rapid depolarisation # RecName MOG1_HUMAN Ran guanine nucleotide release factor # RefSeq NP_001171272 NM_001177801.1. [Q9HD47-2] # RefSeq NP_001171273 NM_001177802.1. [Q9HD47-3] # RefSeq NP_001317056 NM_001330127.1 # RefSeq NP_057576 NM_016492.4. [Q9HD47-1] # SEQUENCE CAUTION Sequence=AAF29129.1; Type=Frameshift; Positions=62, 93; Evidence={ECO:0000305}; Sequence=AAF87316.1; Type=Frameshift; Positions=62; Evidence={ECO 0000305}; # SIMILARITY Belongs to the MOG1 family. {ECO 0000305}. # SUBCELLULAR LOCATION MOG1_HUMAN Nucleus {ECO 0000269|PubMed 11290418}. Cytoplasm {ECO 0000250|UniProtKB Q9JIB0}. Note=May shuttle between the nucleus and cytoplasm. {ECO 0000269|PubMed 11290418}. # SUBUNIT Monomer (By similarity). Interacts with RAN, RAN-GTP and RAN-GDP. Forms a complex with RAN-GTP and RANBP1 (By similarity). Interacts with the cytoplasmic loop 2 of SCN5A. {ECO:0000250, ECO 0000269|PubMed:18184654}. # SUPFAM SSF55724 SSF55724 # TISSUE SPECIFICITY Isoform 1 and isoform 2 are ubiquitously expressed. {ECO:0000269|PubMed 11290418}. # UCSC uc002gkv human. [Q9HD47-1] # eggNOG ENOG4111I9Z LUCA # eggNOG KOG3329 Eukaryota BLAST swissprot:MOG1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:MOG1_HUMAN COXPRESdb 29098 http://coxpresdb.jp/data/gene/29098.shtml CleanEx HS_RANGRF http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_RANGRF DOI 10.1016/S0378-1119(01)00364-X http://dx.doi.org/10.1016/S0378-1119(01)00364-X DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.M709721200 http://dx.doi.org/10.1074/jbc.M709721200 DOI 10.1101/gr.140200 http://dx.doi.org/10.1101/gr.140200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AF151070 http://www.ebi.ac.uk/ena/data/view/AF151070 EMBL AF161514 http://www.ebi.ac.uk/ena/data/view/AF161514 EMBL AF168714 http://www.ebi.ac.uk/ena/data/view/AF168714 EMBL AF265205 http://www.ebi.ac.uk/ena/data/view/AF265205 EMBL AF265206 http://www.ebi.ac.uk/ena/data/view/AF265206 EMBL AK290399 http://www.ebi.ac.uk/ena/data/view/AK290399 EMBL BC006486 http://www.ebi.ac.uk/ena/data/view/BC006486 EMBL BC012552 http://www.ebi.ac.uk/ena/data/view/BC012552 EMBL BC100017 http://www.ebi.ac.uk/ena/data/view/BC100017 EMBL CH471108 http://www.ebi.ac.uk/ena/data/view/CH471108 EMBL CH471108 http://www.ebi.ac.uk/ena/data/view/CH471108 EMBL CH471108 http://www.ebi.ac.uk/ena/data/view/CH471108 EMBL CR457206 http://www.ebi.ac.uk/ena/data/view/CR457206 EMBL CR749387 http://www.ebi.ac.uk/ena/data/view/CR749387 Ensembl ENST00000226105 http://www.ensembl.org/id/ENST00000226105 Ensembl ENST00000407006 http://www.ensembl.org/id/ENST00000407006 Ensembl ENST00000439238 http://www.ensembl.org/id/ENST00000439238 Ensembl ENST00000580434 http://www.ensembl.org/id/ENST00000580434 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005791 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005791 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005901 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005901 GO_component GO:0014704 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014704 GO_function GO:0005085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005085 GO_function GO:0005087 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005087 GO_function GO:0008536 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008536 GO_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GO_function GO:0017080 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0017080 GO_function GO:0044325 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044325 GO_process GO:0002027 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002027 GO_process GO:0003254 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003254 GO_process GO:0006888 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006888 GO_process GO:0032527 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032527 GO_process GO:0042391 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042391 GO_process GO:0043547 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043547 GO_process GO:0090004 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090004 GO_process GO:1900825 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1900825 GO_process GO:1902305 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902305 GO_process GO:2000010 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000010 GO_process GO:2000649 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000649 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_function GO:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0016192 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016192 Gene3D 3.40.1000.10 http://www.cathdb.info/version/latest/superfamily/3.40.1000.10 GeneCards RANGRF http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=RANGRF GeneID 29098 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=29098 GeneTree ENSGT00390000013834 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000013834 H-InvDB HIX0013522 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0013522 HGNC HGNC:17679 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:17679 HOVERGEN HBG075266 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG075266&db=HOVERGEN HPA HPA057280 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA057280 HPA HPA057888 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA057888 InParanoid Q9HD47 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9HD47 IntAct Q9HD47 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9HD47* InterPro IPR007681 http://www.ebi.ac.uk/interpro/entry/IPR007681 InterPro IPR016123 http://www.ebi.ac.uk/interpro/entry/IPR016123 Jabion 29098 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=29098 KEGG_Gene hsa:29098 http://www.genome.jp/dbget-bin/www_bget?hsa:29098 MIM 607954 http://www.ncbi.nlm.nih.gov/omim/607954 OMA QPLCLEN http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=QPLCLEN OrthoDB EOG091G0KIN http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0KIN PSORT swissprot:MOG1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:MOG1_HUMAN PSORT-B swissprot:MOG1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:MOG1_HUMAN PSORT2 swissprot:MOG1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:MOG1_HUMAN Pfam PF04603 http://pfam.xfam.org/family/PF04603 PharmGKB PA162400661 http://www.pharmgkb.org/do/serve?objId=PA162400661&objCls=Gene Phobius swissprot:MOG1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:MOG1_HUMAN PhylomeDB Q9HD47 http://phylomedb.org/?seqid=Q9HD47 ProteinModelPortal Q9HD47 http://www.proteinmodelportal.org/query/uniprot/Q9HD47 PubMed 11042152 http://www.ncbi.nlm.nih.gov/pubmed/11042152 PubMed 11290418 http://www.ncbi.nlm.nih.gov/pubmed/11290418 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 PubMed 18184654 http://www.ncbi.nlm.nih.gov/pubmed/18184654 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 Reactome R-HSA-5576892 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576892 RefSeq NP_001171272 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001171272 RefSeq NP_001171273 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001171273 RefSeq NP_001317056 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001317056 RefSeq NP_057576 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_057576 SMR Q9HD47 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9HD47 STRING 9606.ENSP00000226105 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000226105&targetmode=cogs SUPFAM SSF55724 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF55724 UCSC uc002gkv http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002gkv&org=rat UniGene Hs.408233 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.408233 UniProtKB MOG1_HUMAN http://www.uniprot.org/uniprot/MOG1_HUMAN UniProtKB-AC Q9HD47 http://www.uniprot.org/uniprot/Q9HD47 charge swissprot:MOG1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:MOG1_HUMAN eggNOG ENOG4111I9Z http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111I9Z eggNOG KOG3329 http://eggnogapi.embl.de/nog_data/html/tree/KOG3329 epestfind swissprot:MOG1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:MOG1_HUMAN garnier swissprot:MOG1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:MOG1_HUMAN helixturnhelix swissprot:MOG1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:MOG1_HUMAN hmoment swissprot:MOG1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:MOG1_HUMAN iep swissprot:MOG1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:MOG1_HUMAN inforesidue swissprot:MOG1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:MOG1_HUMAN neXtProt NX_Q9HD47 http://www.nextprot.org/db/entry/NX_Q9HD47 octanol swissprot:MOG1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:MOG1_HUMAN pepcoil swissprot:MOG1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:MOG1_HUMAN pepdigest swissprot:MOG1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:MOG1_HUMAN pepinfo swissprot:MOG1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:MOG1_HUMAN pepnet swissprot:MOG1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:MOG1_HUMAN pepstats swissprot:MOG1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:MOG1_HUMAN pepwheel swissprot:MOG1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:MOG1_HUMAN pepwindow swissprot:MOG1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:MOG1_HUMAN sigcleave swissprot:MOG1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:MOG1_HUMAN ## Database ID URL or Descriptions # AltName VPP2_HUMAN Lysosomal H(+)-transporting ATPase V0 subunit a2 # AltName VPP2_HUMAN TJ6 # AltName VPP2_HUMAN Vacuolar proton translocating ATPase 116 kDa subunit a isoform 2 # BRENDA 3.6.3 2681 # BioGrid 117089 55 # CAUTION The N-terminal peptide may increase IL1B secretion by peripheral blood monocytes; however as this region is probably in the cytosol, the in vivo relevance of this observation needs to be confirmed. {ECO 0000305}. # ChiTaRS ATP6V0A2 human # DISEASE VPP2_HUMAN Cutis laxa, autosomal recessive, 2A (ARCL2A) [MIM 219200] A disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, a general connective tissue weakness, and varying degrees of growth and developmental delay and neurological abnormalities. Some affected individuals develop seizures and mental deterioration later in life, whereas the skin phenotype tends to become milder with age. At the molecular level, an abnormal glycosylation of serum proteins is observed in many cases. {ECO 0000269|PubMed 18157129}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE VPP2_HUMAN Wrinkly skin syndrome (WSS) [MIM 278250] A rare autosomal recessive disorder characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple musculoskeletal abnormalities, microcephaly, growth failure and developmental delay. {ECO 0000269|PubMed 18157129}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000330342 ENSP00000332247; ENSG00000185344 # ExpressionAtlas Q9Y487 baseline and differential # FUNCTION VPP2_HUMAN Part of the proton channel of V-ATPases. Essential component of the endosomal pH-sensing machinery. May play a role in maintaining the Golgi functions, such as glycosylation maturation, by controlling the Golgi pH. {ECO 0000269|PubMed 16415858, ECO 0000269|PubMed 18157129}. # GO_component GO:0000220 vacuolar proton-transporting V-type ATPase, V0 domain; IEA:InterPro. # GO_component GO:0001669 acrosomal vesicle; IEA:Ensembl. # GO_component GO:0005737 cytoplasm; IDA:HPA. # GO_component GO:0005765 lysosomal membrane; IDA:UniProtKB. # GO_component GO:0005886 plasma membrane; IDA:HPA. # GO_component GO:0005925 focal adhesion; IDA:HPA. # GO_component GO:0010008 endosome membrane; TAS:Reactome. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0016471 vacuolar proton-transporting V-type ATPase complex; IBA:GO_Central. # GO_component GO:0030670 phagocytic vesicle membrane; TAS:Reactome. # GO_function GO:0046961 proton-transporting ATPase activity, rotational mechanism; IBA:GO_Central. # GO_function GO:0051117 ATPase binding; IBA:GO_Central. # GO_process GO:0006955 immune response; TAS:ProtInc. # GO_process GO:0007035 vacuolar acidification; IBA:GO_Central. # GO_process GO:0008286 insulin receptor signaling pathway; TAS:Reactome. # GO_process GO:0015986 ATP synthesis coupled proton transport; IBA:GO_Central. # GO_process GO:0015991 ATP hydrolysis coupled proton transport; IEA:InterPro. # GO_process GO:0016241 regulation of macroautophagy; NAS:ParkinsonsUK-UCL. # GO_process GO:0033572 transferrin transport; TAS:Reactome. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0070072 vacuolar proton-transporting V-type ATPase complex assembly; IBA:GO_Central. # GO_process GO:0090383 phagosome acidification; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0031410 cytoplasmic vesicle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0019899 enzyme binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0002376 immune system process # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0044281 small molecule metabolic process # GOslim_process GO:0055085 transmembrane transport # Genevisible Q9Y487 HS # HGNC HGNC:18481 ATP6V0A2 # INTERACTION VPP2_HUMAN Q99418 CYTH2; NbExp=2; IntAct=EBI-988630, EBI-448974; # IntAct Q9Y487 5 # InterPro IPR002490 V-ATPase_116kDa_su # InterPro IPR026028 V-type_ATPase_116kDa_su_euka # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Brite ko01000 Enzymes # KEGG_Disease H00557 [Developmental disorder; Skin and connective tissue disease] Wrinkly skin syndrome # KEGG_Pathway ko00190 Oxidative phosphorylation # KEGG_Pathway ko04142 Lysosome # KEGG_Pathway ko04145 Phagosome # KEGG_Pathway ko04721 Synaptic vesicle cycle # KEGG_Pathway ko04966 Collecting duct acid secretion # KEGG_Pathway ko05110 Vibrio cholerae infection # KEGG_Pathway ko05120 Epithelial cell signaling in Helicobacter pylori infection # KEGG_Pathway ko05152 Tuberculosis # KEGG_Pathway ko05323 Rheumatoid arthritis # MIM 219200 phenotype # MIM 278250 phenotype # MIM 611716 gene # Organism VPP2_HUMAN Homo sapiens (Human) # Orphanet 2834 Wrinkly skin syndrome # Orphanet 357074 Autosomal recessive cutis laxa type 2, classic type # PANTHER PTHR11629 PTHR11629 # PIRSF PIRSF001293 ATP6V0A1 # Pfam PF01496 V_ATPase_I # Proteomes UP000005640 Chromosome 12 # Reactome R-HSA-1222556 ROS, RNS production in response to bacteria # Reactome R-HSA-77387 Insulin receptor recycling # Reactome R-HSA-917977 Transferrin endocytosis and recycling # Reactome R-HSA-983712 Ion channel transport # RecName VPP2_HUMAN V-type proton ATPase 116 kDa subunit a isoform 2 # RefSeq NP_036595 NM_012463.3 # SIMILARITY Belongs to the V-ATPase 116 kDa subunit family. {ECO 0000305}. # SUBCELLULAR LOCATION VPP2_HUMAN Cell membrane; Multi-pass membrane protein. Endosome membrane. Note=In kidney proximal tubules, also detected in subapical vesicles. {ECO 0000250}. # SUBUNIT The V-ATPase is a heteromultimeric enzyme composed of at least thirteen different subunits. It has a membrane peripheral V1 sector for ATP hydrolysis and an integral V0 for proton translocation. The V1 sector comprises subunits A-H, whereas V0 includes subunits a, d, c, c', and c''. Directly interacts with PSCD2 through its N-terminal cytosolic tail in an intra-endosomal acidification-dependent manner. Disruption of this interaction results in the inhibition of endocytosis. {ECO:0000269|PubMed 16415858}. # UCSC uc001ufr human # eggNOG COG1269 LUCA # eggNOG KOG2189 Eukaryota BLAST swissprot:VPP2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:VPP2_HUMAN BioCyc MetaCyc:G66-33375-MONOMER http://biocyc.org/getid?id=MetaCyc:G66-33375-MONOMER BioCyc ZFISH:G66-33375-MONOMER http://biocyc.org/getid?id=ZFISH:G66-33375-MONOMER COG COG1269 http://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=COG1269 COXPRESdb 23545 http://coxpresdb.jp/data/gene/23545.shtml CleanEx HS_ATP6V0A2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ATP6V0A2 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/ncb1348 http://dx.doi.org/10.1038/ncb1348 DOI 10.1038/ng.2007.45 http://dx.doi.org/10.1038/ng.2007.45 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1600-0897.2006.00463.x http://dx.doi.org/10.1111/j.1600-0897.2006.00463.x DOI 10.1126/science.1140321 http://dx.doi.org/10.1126/science.1140321 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AF112972 http://www.ebi.ac.uk/ena/data/view/AF112972 EMBL AK289391 http://www.ebi.ac.uk/ena/data/view/AK289391 EMBL BC068531 http://www.ebi.ac.uk/ena/data/view/BC068531 EMBL CH471054 http://www.ebi.ac.uk/ena/data/view/CH471054 Ensembl ENST00000330342 http://www.ensembl.org/id/ENST00000330342 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000220 GO_component GO:0001669 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001669 GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005765 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005765 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005925 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005925 GO_component GO:0010008 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010008 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0016471 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016471 GO_component GO:0030670 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030670 GO_function GO:0046961 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046961 GO_function GO:0051117 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051117 GO_process GO:0006955 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006955 GO_process GO:0007035 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007035 GO_process GO:0008286 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008286 GO_process GO:0015986 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015986 GO_process GO:0015991 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015991 GO_process GO:0016241 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016241 GO_process GO:0033572 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033572 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0070072 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070072 GO_process GO:0090383 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090383 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0031410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0002376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002376 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards ATP6V0A2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ATP6V0A2 GeneID 23545 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=23545 GeneTree ENSGT00390000004941 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000004941 H-InvDB HIX0011113 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0011113 HGNC HGNC:18481 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:18481 HOGENOM HOG000037059 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000037059&db=HOGENOM6 HOVERGEN HBG014606 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG014606&db=HOVERGEN HPA HPA044279 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA044279 InParanoid Q9Y487 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9Y487 IntAct Q9Y487 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9Y487* InterPro IPR002490 http://www.ebi.ac.uk/interpro/entry/IPR002490 InterPro IPR026028 http://www.ebi.ac.uk/interpro/entry/IPR026028 Jabion 23545 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=23545 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00002 http://www.genome.jp/dbget-bin/www_bget?ko00002 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Disease H00557 http://www.genome.jp/dbget-bin/www_bget?H00557 KEGG_Gene hsa:23545 http://www.genome.jp/dbget-bin/www_bget?hsa:23545 KEGG_Orthology KO:K02154 http://www.genome.jp/dbget-bin/www_bget?KO:K02154 KEGG_Pathway ko00190 http://www.genome.jp/kegg-bin/show_pathway?ko00190 KEGG_Pathway ko04142 http://www.genome.jp/kegg-bin/show_pathway?ko04142 KEGG_Pathway ko04145 http://www.genome.jp/kegg-bin/show_pathway?ko04145 KEGG_Pathway ko04721 http://www.genome.jp/kegg-bin/show_pathway?ko04721 KEGG_Pathway ko04966 http://www.genome.jp/kegg-bin/show_pathway?ko04966 KEGG_Pathway ko05110 http://www.genome.jp/kegg-bin/show_pathway?ko05110 KEGG_Pathway ko05120 http://www.genome.jp/kegg-bin/show_pathway?ko05120 KEGG_Pathway ko05152 http://www.genome.jp/kegg-bin/show_pathway?ko05152 KEGG_Pathway ko05323 http://www.genome.jp/kegg-bin/show_pathway?ko05323 MIM 219200 http://www.ncbi.nlm.nih.gov/omim/219200 MIM 278250 http://www.ncbi.nlm.nih.gov/omim/278250 MIM 611716 http://www.ncbi.nlm.nih.gov/omim/611716 OMA HPPAEHK http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=HPPAEHK Orphanet 2834 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=2834 Orphanet 357074 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=357074 OrthoDB EOG091G01BI http://cegg.unige.ch/orthodb/results?searchtext=EOG091G01BI PANTHER PTHR11629 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11629 PSORT swissprot:VPP2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:VPP2_HUMAN PSORT-B swissprot:VPP2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:VPP2_HUMAN PSORT2 swissprot:VPP2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:VPP2_HUMAN Pfam PF01496 http://pfam.xfam.org/family/PF01496 PharmGKB PA38549 http://www.pharmgkb.org/do/serve?objId=PA38549&objCls=Gene Phobius swissprot:VPP2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:VPP2_HUMAN PhylomeDB Q9Y487 http://phylomedb.org/?seqid=Q9Y487 ProteinModelPortal Q9Y487 http://www.proteinmodelportal.org/query/uniprot/Q9Y487 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16415858 http://www.ncbi.nlm.nih.gov/pubmed/16415858 PubMed 17295899 http://www.ncbi.nlm.nih.gov/pubmed/17295899 PubMed 17525332 http://www.ncbi.nlm.nih.gov/pubmed/17525332 PubMed 18157129 http://www.ncbi.nlm.nih.gov/pubmed/18157129 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 Reactome R-HSA-1222556 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1222556 Reactome R-HSA-77387 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-77387 Reactome R-HSA-917977 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-917977 Reactome R-HSA-983712 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-983712 RefSeq NP_036595 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_036595 STRING 9606.ENSP00000332247 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000332247&targetmode=cogs STRING COG1269 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=COG1269&targetmode=cogs UCSC uc001ufr http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001ufr&org=rat UniGene Hs.25786 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.25786 UniProtKB VPP2_HUMAN http://www.uniprot.org/uniprot/VPP2_HUMAN UniProtKB-AC Q9Y487 http://www.uniprot.org/uniprot/Q9Y487 charge swissprot:VPP2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:VPP2_HUMAN eggNOG COG1269 http://eggnogapi.embl.de/nog_data/html/tree/COG1269 eggNOG KOG2189 http://eggnogapi.embl.de/nog_data/html/tree/KOG2189 epestfind swissprot:VPP2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:VPP2_HUMAN garnier swissprot:VPP2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:VPP2_HUMAN helixturnhelix swissprot:VPP2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:VPP2_HUMAN hmoment swissprot:VPP2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:VPP2_HUMAN iep swissprot:VPP2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:VPP2_HUMAN inforesidue swissprot:VPP2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:VPP2_HUMAN neXtProt NX_Q9Y487 http://www.nextprot.org/db/entry/NX_Q9Y487 octanol swissprot:VPP2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:VPP2_HUMAN pepcoil swissprot:VPP2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:VPP2_HUMAN pepdigest swissprot:VPP2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:VPP2_HUMAN pepinfo swissprot:VPP2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:VPP2_HUMAN pepnet swissprot:VPP2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:VPP2_HUMAN pepstats swissprot:VPP2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:VPP2_HUMAN pepwheel swissprot:VPP2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:VPP2_HUMAN pepwindow swissprot:VPP2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:VPP2_HUMAN sigcleave swissprot:VPP2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:VPP2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS FXYD5_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96DB9-1; Sequence=Displayed; Name=2; IsoId=Q96DB9-2; Sequence=VSP_001584; # AltName FXYD5_HUMAN Dysadherin # CCDS CCDS12447 -. [Q96DB9-1] # ChiTaRS FXYD5 human # Ensembl ENST00000342879 ENSP00000344254; ENSG00000089327. [Q96DB9-1] # Ensembl ENST00000392217 ENSP00000376051; ENSG00000089327. [Q96DB9-2] # Ensembl ENST00000392219 ENSP00000376053; ENSG00000089327. [Q96DB9-1] # Ensembl ENST00000423817 ENSP00000393848; ENSG00000089327. [Q96DB9-1] # Ensembl ENST00000541435 ENSP00000443390; ENSG00000089327. [Q96DB9-1] # Ensembl ENST00000590686 ENSP00000465667; ENSG00000089327. [Q96DB9-1] # ExpressionAtlas Q96DB9 baseline and differential # FUNCTION FXYD5_HUMAN Involved in down-regulation of E-cadherin which results in reduced cell adhesion. Promotes metastasis. {ECO 0000269|PubMed 11756660}. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0016021 integral component of membrane; IDA:UniProtKB. # GO_function GO:0003779 actin binding; IDA:UniProtKB. # GO_function GO:0005216 ion channel activity; IEA:InterPro. # GO_function GO:0017080 sodium channel regulator activity; IBA:GO_Central. # GO_function GO:0045296 cadherin binding; IDA:UniProtKB. # GO_process GO:0030033 microvillus assembly; NAS:UniProtKB. # GO_process GO:0046588 negative regulation of calcium-dependent cell-cell adhesion; NAS:UniProtKB. # GO_process GO:2000649 regulation of sodium ion transmembrane transporter activity; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0008092 cytoskeletal protein binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0008150 biological_process # GOslim_process GO:0022607 cellular component assembly # Genevisible Q96DB9 HS # HGNC HGNC:4029 FXYD5 # InterPro IPR000272 Ion-transport_regulator_FXYD # KEGG_Brite ko02000 Transporters # MIM 606669 gene # Organism FXYD5_HUMAN Homo sapiens (Human) # PROSITE PS01310 FXYD # PTM FXYD5_HUMAN Glycosylated. {ECO 0000269|PubMed 11756660}. # Pfam PF02038 ATP1G1_PLM_MAT8 # ProDom PD005989 PD005989 # Proteomes UP000005640 Chromosome 19 # RecName FXYD5_HUMAN FXYD domain-containing ion transport regulator 5 # RefSeq NP_001158077 NM_001164605.1. [Q96DB9-1] # RefSeq NP_001307842 NM_001320913.1 # RefSeq NP_054883 NM_014164.5. [Q96DB9-1] # RefSeq NP_659003 NM_144779.2. [Q96DB9-1] # SIMILARITY Belongs to the FXYD family. {ECO 0000305}. # SUBCELLULAR LOCATION FXYD5_HUMAN Membrane {ECO 0000305}; Single-pass type I membrane protein {ECO 0000305}. # TCDB 1.A.27.3 the phospholemman (plm) family # UCSC uc002nyg human. [Q96DB9-1] # WEB RESOURCE FXYD5_HUMAN Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http //atlasgeneticsoncology.org/Genes/FXYD5ID40652ch19q13.html"; # eggNOG ENOG410JCU8 Eukaryota # eggNOG ENOG4111E7R LUCA BLAST swissprot:FXYD5_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:FXYD5_HUMAN BioCyc ZFISH:ENSG00000089327-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000089327-MONOMER COXPRESdb 53827 http://coxpresdb.jp/data/gene/53827.shtml CleanEx HS_FXYD5 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_FXYD5 DOI 10.1016/S0167-4781(00)00251-7 http://dx.doi.org/10.1016/S0167-4781(00)00251-7 DOI 10.1038/nature02399 http://dx.doi.org/10.1038/nature02399 DOI 10.1073/pnas.012425299 http://dx.doi.org/10.1073/pnas.012425299 DOI 10.1101/gr.1293003 http://dx.doi.org/10.1101/gr.1293003 DOI 10.1101/gr.140200 http://dx.doi.org/10.1101/gr.140200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AB072911 http://www.ebi.ac.uk/ena/data/view/AB072911 EMBL AC002390 http://www.ebi.ac.uk/ena/data/view/AC002390 EMBL AC020907 http://www.ebi.ac.uk/ena/data/view/AC020907 EMBL AF161462 http://www.ebi.ac.uk/ena/data/view/AF161462 EMBL AF177940 http://www.ebi.ac.uk/ena/data/view/AF177940 EMBL AY358991 http://www.ebi.ac.uk/ena/data/view/AY358991 EMBL BC009642 http://www.ebi.ac.uk/ena/data/view/BC009642 EMBL BT007343 http://www.ebi.ac.uk/ena/data/view/BT007343 Ensembl ENST00000342879 http://www.ensembl.org/id/ENST00000342879 Ensembl ENST00000392217 http://www.ensembl.org/id/ENST00000392217 Ensembl ENST00000392219 http://www.ensembl.org/id/ENST00000392219 Ensembl ENST00000423817 http://www.ensembl.org/id/ENST00000423817 Ensembl ENST00000541435 http://www.ensembl.org/id/ENST00000541435 Ensembl ENST00000590686 http://www.ensembl.org/id/ENST00000590686 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0003779 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003779 GO_function GO:0005216 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005216 GO_function GO:0017080 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0017080 GO_function GO:0045296 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045296 GO_process GO:0030033 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030033 GO_process GO:0046588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046588 GO_process GO:2000649 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000649 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0008092 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008092 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0022607 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022607 GeneCards FXYD5 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=FXYD5 GeneID 53827 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=53827 GeneTree ENSGT00410000026316 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00410000026316 H-InvDB HIX0015022 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0015022 HGNC HGNC:4029 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:4029 HOGENOM HOG000081775 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000081775&db=HOGENOM6 HOVERGEN HBG051678 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG051678&db=HOVERGEN HPA HPA010817 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA010817 InParanoid Q96DB9 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q96DB9 InterPro IPR000272 http://www.ebi.ac.uk/interpro/entry/IPR000272 Jabion 53827 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=53827 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Gene hsa:53827 http://www.genome.jp/dbget-bin/www_bget?hsa:53827 KEGG_Orthology KO:K13362 http://www.genome.jp/dbget-bin/www_bget?KO:K13362 MIM 606669 http://www.ncbi.nlm.nih.gov/omim/606669 PROSITE PS01310 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS01310 PSORT swissprot:FXYD5_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:FXYD5_HUMAN PSORT-B swissprot:FXYD5_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:FXYD5_HUMAN PSORT2 swissprot:FXYD5_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:FXYD5_HUMAN Pfam PF02038 http://pfam.xfam.org/family/PF02038 PharmGKB PA28445 http://www.pharmgkb.org/do/serve?objId=PA28445&objCls=Gene Phobius swissprot:FXYD5_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:FXYD5_HUMAN PhylomeDB Q96DB9 http://phylomedb.org/?seqid=Q96DB9 ProteinModelPortal Q96DB9 http://www.proteinmodelportal.org/query/uniprot/Q96DB9 PubMed 11042152 http://www.ncbi.nlm.nih.gov/pubmed/11042152 PubMed 11342114 http://www.ncbi.nlm.nih.gov/pubmed/11342114 PubMed 11756660 http://www.ncbi.nlm.nih.gov/pubmed/11756660 PubMed 12975309 http://www.ncbi.nlm.nih.gov/pubmed/12975309 PubMed 15057824 http://www.ncbi.nlm.nih.gov/pubmed/15057824 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 RefSeq NP_001158077 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001158077 RefSeq NP_001307842 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001307842 RefSeq NP_054883 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_054883 RefSeq NP_659003 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_659003 SMR Q96DB9 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q96DB9 STRING 9606.ENSP00000344254 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000344254&targetmode=cogs TCDB 1.A.27.3 http://www.tcdb.org/search/result.php?tc=1.A.27.3 UCSC uc002nyg http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002nyg&org=rat UniGene Hs.333418 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.333418 UniProtKB FXYD5_HUMAN http://www.uniprot.org/uniprot/FXYD5_HUMAN UniProtKB-AC Q96DB9 http://www.uniprot.org/uniprot/Q96DB9 charge swissprot:FXYD5_HUMAN http://rest.g-language.org/emboss/charge/swissprot:FXYD5_HUMAN eggNOG ENOG410JCU8 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410JCU8 eggNOG ENOG4111E7R http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111E7R epestfind swissprot:FXYD5_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:FXYD5_HUMAN garnier swissprot:FXYD5_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:FXYD5_HUMAN helixturnhelix swissprot:FXYD5_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:FXYD5_HUMAN hmoment swissprot:FXYD5_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:FXYD5_HUMAN iep swissprot:FXYD5_HUMAN http://rest.g-language.org/emboss/iep/swissprot:FXYD5_HUMAN inforesidue swissprot:FXYD5_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:FXYD5_HUMAN neXtProt NX_Q96DB9 http://www.nextprot.org/db/entry/NX_Q96DB9 octanol swissprot:FXYD5_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:FXYD5_HUMAN pepcoil swissprot:FXYD5_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:FXYD5_HUMAN pepdigest swissprot:FXYD5_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:FXYD5_HUMAN pepinfo swissprot:FXYD5_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:FXYD5_HUMAN pepnet swissprot:FXYD5_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:FXYD5_HUMAN pepstats swissprot:FXYD5_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:FXYD5_HUMAN pepwheel swissprot:FXYD5_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:FXYD5_HUMAN pepwindow swissprot:FXYD5_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:FXYD5_HUMAN sigcleave swissprot:FXYD5_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:FXYD5_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS TI17B_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O60830-1; Sequence=Displayed; Name=2; IsoId=O60830-2; Sequence=VSP_047215; Note=No experimental confirmation available.; # BioGrid 115539 12 # CCDS CCDS14308 -. [O60830-1] # CCDS CCDS55411 -. [O60830-2] # ChiTaRS TIMM17B human # Ensembl ENST00000376582 ENSP00000365766; ENSG00000126768. [O60830-1] # Ensembl ENST00000396779 ENSP00000379999; ENSG00000126768. [O60830-2] # Ensembl ENST00000465150 ENSP00000477073; ENSG00000126768. [O60830-2] # ExpressionAtlas O60830 baseline and differential # FUNCTION TI17B_HUMAN Essential component of the TIM23 complex, a complex that mediates the translocation of transit peptide-containing proteins across the mitochondrial inner membrane. # GO_component GO:0005743 mitochondrial inner membrane; IDA:GO_Central. # GO_component GO:0005744 mitochondrial inner membrane presequence translocase complex; IDA:BHF-UCL. # GO_component GO:0031305 integral component of mitochondrial inner membrane; IDA:BHF-UCL. # GO_function GO:0015450 P-P-bond-hydrolysis-driven protein transmembrane transporter activity; IEA:InterPro. # GO_process GO:0006626 protein targeting to mitochondrion; TAS:ProtInc. # GO_process GO:0030150 protein import into mitochondrial matrix; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0043234 protein complex # GOslim_function GO:0008565 protein transporter activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006605 protein targeting # GOslim_process GO:0055085 transmembrane transport # Genevisible O60830 HS # HGNC HGNC:17310 TIMM17B # IntAct O60830 3 # InterPro IPR003397 Tim17/Tim22/Tim23/PMP24 # InterPro IPR005678 Tim17 # MIM 300249 gene # Organism TI17B_HUMAN Homo sapiens (Human) # PANTHER PTHR10485 PTHR10485 # Pfam PF02466 Tim17 # Proteomes UP000005640 Chromosome X # Reactome R-HSA-1268020 Mitochondrial protein import # RecName TI17B_HUMAN Mitochondrial import inner membrane translocase subunit Tim17-B # RefSeq NP_001161419 NM_001167947.2. [O60830-2] # RefSeq NP_005825 NM_005834.4. [O60830-1] # SIMILARITY Belongs to the Tim17/Tim22/Tim23 family. {ECO 0000305}. # SUBCELLULAR LOCATION TI17B_HUMAN Mitochondrion inner membrane; Multi-pass membrane protein. # SUBUNIT Component of the TIM23 complex at least composed of TIMM23, TIMM17 (TIMM17A or TIMM17B) and TIMM50. The complex interacts with the TIMM44 component of the PAM complex and with DNAJC15. {ECO:0000269|PubMed 23263864}. # TIGRFAMs TIGR00980 3a0801so1tim17 # TISSUE SPECIFICITY TI17B_HUMAN Expression is abundant in heart and skeletal muscle, intermediate in brain, and weak in pancreas, placenta, kidney and liver. # TopDownProteomics O60830-1 -. [O60830-1] # UCSC uc004dla human. [O60830-1] BLAST swissprot:TI17B_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:TI17B_HUMAN BioCyc ZFISH:ENSG00000126768-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000126768-MONOMER COXPRESdb 10245 http://coxpresdb.jp/data/gene/10245.shtml CleanEx HS_TIMM17B http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_TIMM17B DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1006/jmbi.1999.2751 http://dx.doi.org/10.1006/jmbi.1999.2751 DOI 10.1038/nature03440 http://dx.doi.org/10.1038/nature03440 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1093/hmg/dds541 http://dx.doi.org/10.1093/hmg/dds541 DOI 10.1101/gr.140200 http://dx.doi.org/10.1101/gr.140200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AF034790 http://www.ebi.ac.uk/ena/data/view/AF034790 EMBL AF077039 http://www.ebi.ac.uk/ena/data/view/AF077039 EMBL AF196971 http://www.ebi.ac.uk/ena/data/view/AF196971 EMBL AF207550 http://www.ebi.ac.uk/ena/data/view/AF207550 EMBL AJ005895 http://www.ebi.ac.uk/ena/data/view/AJ005895 EMBL AK290207 http://www.ebi.ac.uk/ena/data/view/AK290207 EMBL BC010142 http://www.ebi.ac.uk/ena/data/view/BC010142 EMBL BC091473 http://www.ebi.ac.uk/ena/data/view/BC091473 EMBL CH471224 http://www.ebi.ac.uk/ena/data/view/CH471224 Ensembl ENST00000376582 http://www.ensembl.org/id/ENST00000376582 Ensembl ENST00000396779 http://www.ensembl.org/id/ENST00000396779 Ensembl ENST00000465150 http://www.ensembl.org/id/ENST00000465150 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0005744 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005744 GO_component GO:0031305 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031305 GO_function GO:0015450 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015450 GO_process GO:0006626 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006626 GO_process GO:0030150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030150 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006605 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006605 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards TIMM17B http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=TIMM17B GeneID 10245 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=10245 GeneTree ENSGT00390000017780 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000017780 HGNC HGNC:17310 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:17310 HOGENOM HOG000183190 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000183190&db=HOGENOM6 HOVERGEN HBG054233 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG054233&db=HOVERGEN HPA HPA029093 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA029093 InParanoid O60830 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O60830 IntAct O60830 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O60830* InterPro IPR003397 http://www.ebi.ac.uk/interpro/entry/IPR003397 InterPro IPR005678 http://www.ebi.ac.uk/interpro/entry/IPR005678 Jabion 10245 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=10245 KEGG_Gene hsa:10245 http://www.genome.jp/dbget-bin/www_bget?hsa:10245 MIM 300249 http://www.ncbi.nlm.nih.gov/omim/300249 OMA FRNAPVC http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=FRNAPVC OrthoDB EOG091G0PGZ http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0PGZ PANTHER PTHR10485 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10485 PSORT swissprot:TI17B_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:TI17B_HUMAN PSORT-B swissprot:TI17B_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:TI17B_HUMAN PSORT2 swissprot:TI17B_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:TI17B_HUMAN Pfam PF02466 http://pfam.xfam.org/family/PF02466 PharmGKB PA38226 http://www.pharmgkb.org/do/serve?objId=PA38226&objCls=Gene Phobius swissprot:TI17B_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:TI17B_HUMAN PhylomeDB O60830 http://phylomedb.org/?seqid=O60830 ProteinModelPortal O60830 http://www.proteinmodelportal.org/query/uniprot/O60830 PubMed 10339406 http://www.ncbi.nlm.nih.gov/pubmed/10339406 PubMed 11042152 http://www.ncbi.nlm.nih.gov/pubmed/11042152 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15772651 http://www.ncbi.nlm.nih.gov/pubmed/15772651 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 23263864 http://www.ncbi.nlm.nih.gov/pubmed/23263864 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 Reactome R-HSA-1268020 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1268020 RefSeq NP_001161419 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001161419 RefSeq NP_005825 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_005825 SMR O60830 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=O60830 TIGRFAMs TIGR00980 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00980 UCSC uc004dla http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc004dla&org=rat UniGene Hs.30570 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.30570 UniProtKB TI17B_HUMAN http://www.uniprot.org/uniprot/TI17B_HUMAN UniProtKB-AC O60830 http://www.uniprot.org/uniprot/O60830 charge swissprot:TI17B_HUMAN http://rest.g-language.org/emboss/charge/swissprot:TI17B_HUMAN epestfind swissprot:TI17B_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:TI17B_HUMAN garnier swissprot:TI17B_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:TI17B_HUMAN helixturnhelix swissprot:TI17B_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:TI17B_HUMAN hmoment swissprot:TI17B_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:TI17B_HUMAN iep swissprot:TI17B_HUMAN http://rest.g-language.org/emboss/iep/swissprot:TI17B_HUMAN inforesidue swissprot:TI17B_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:TI17B_HUMAN neXtProt NX_O60830 http://www.nextprot.org/db/entry/NX_O60830 octanol swissprot:TI17B_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:TI17B_HUMAN pepcoil swissprot:TI17B_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:TI17B_HUMAN pepdigest swissprot:TI17B_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:TI17B_HUMAN pepinfo swissprot:TI17B_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:TI17B_HUMAN pepnet swissprot:TI17B_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:TI17B_HUMAN pepstats swissprot:TI17B_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:TI17B_HUMAN pepwheel swissprot:TI17B_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:TI17B_HUMAN pepwindow swissprot:TI17B_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:TI17B_HUMAN sigcleave swissprot:TI17B_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:TI17B_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS LOXH1_HUMAN Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q8IVV2-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=3; IsoId=Q8IVV2-3; Sequence=VSP_028948; Name=4; IsoId=Q8IVV2-4; Sequence=VSP_028947, VSP_028951; Note=No experimental confirmation available.; Name=5; IsoId=Q8IVV2-5; Sequence=VSP_028947, VSP_028952; Note=No experimental confirmation available.; # CCDS CCDS45861 -. [Q8IVV2-3] # CCDS CCDS45862 -. [Q8IVV2-5] # CCDS CCDS54184 -. [Q8IVV2-4] # ChiTaRS LOXHD1 human # DISEASE LOXH1_HUMAN Deafness, autosomal recessive, 77 (DFNB77) [MIM 613079] A form of non-syndromic deafness characterized by preserved low- frequency hearing, and a trend toward mild to moderate mid- frequency and high-frequency hearing loss during childhood and adolescence. Hearing loss progresses to become moderate to severe at mid and high frequencies during adulthood. {ECO 0000269|PubMed 19732867}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000300591 ENSP00000300591; ENSG00000167210. [Q8IVV2-3] # Ensembl ENST00000398686 ENSP00000381676; ENSG00000167210. [Q8IVV2-5] # Ensembl ENST00000398705 ENSP00000381692; ENSG00000167210. [Q8IVV2-4] # ExpressionAtlas Q8IVV2 baseline and differential # FUNCTION LOXH1_HUMAN Involved in hearing. Required for normal function of hair cells in the inner ear (By similarity). {ECO 0000250, ECO 0000269|PubMed 19732867}. # GO_component GO:0016020 membrane; IBA:GO_Central. # GO_component GO:0032420 stereocilium; ISS:UniProtKB. # GO_function GO:0005262 calcium channel activity; IBA:GO_Central. # GO_process GO:0007605 sensory perception of sound; IMP:UniProtKB. # GO_process GO:0050982 detection of mechanical stimulus; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0008150 biological_process # GOslim_process GO:0050877 neurological system process # Gene3D 2.60.60.20 -; 15. # Genevisible Q8IVV2 HS # HGNC HGNC:26521 LOXHD1 # InterPro IPR001024 PLAT/LH2_dom # InterPro IPR033033 LOXHD1 # KEGG_Disease H00605 [Nervous system disease; Nervous system disease] Deafness, autosomal recessive # MIM 613072 gene # MIM 613079 phenotype # Organism LOXH1_HUMAN Homo sapiens (Human) # Orphanet 90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB # PANTHER PTHR10877:SF137 PTHR10877:SF137 # PROSITE PS50095 PLAT; 14 # Pfam PF01477 PLAT; 14 # Proteomes UP000005640 Chromosome 18 # RecName LOXH1_HUMAN Lipoxygenase homology domain-containing protein 1 # RefSeq NP_001138944 NM_001145472.2. [Q8IVV2-3] # RefSeq NP_001138945 NM_001145473.2. [Q8IVV2-5] # RefSeq NP_001166600 NM_001173129.1. [Q8IVV2-4] # RefSeq NP_653213 NM_144612.6 # RefSeq XP_011524113 XM_011525811.2. [Q8IVV2-5] # SIMILARITY Contains 14 PLAT domains. {ECO:0000255|PROSITE- ProRule PRU00152}. # SMART SM00308 LH2; 9 # SUBCELLULAR LOCATION LOXH1_HUMAN Cell projection, stereocilium {ECO 0000250}. # SUPFAM SSF49723 SSF49723; 14 # UCSC uc002lcd human. [Q8IVV2-1] # eggNOG ENOG410IJEB Eukaryota # eggNOG ENOG410XTDU LUCA BLAST swissprot:LOXH1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:LOXH1_HUMAN COXPRESdb 125336 http://coxpresdb.jp/data/gene/125336.shtml CleanEx HS_LOXHD1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_LOXHD1 DOI 10.1016/j.ajhg.2009.07.017 http://dx.doi.org/10.1016/j.ajhg.2009.07.017 DOI 10.1038/nature03983 http://dx.doi.org/10.1038/nature03983 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AC018931 http://www.ebi.ac.uk/ena/data/view/AC018931 EMBL AC064800 http://www.ebi.ac.uk/ena/data/view/AC064800 EMBL AC091139 http://www.ebi.ac.uk/ena/data/view/AC091139 EMBL AK057232 http://www.ebi.ac.uk/ena/data/view/AK057232 EMBL AK127869 http://www.ebi.ac.uk/ena/data/view/AK127869 EMBL BC041860 http://www.ebi.ac.uk/ena/data/view/BC041860 EMBL BC047720 http://www.ebi.ac.uk/ena/data/view/BC047720 EMBL CH471088 http://www.ebi.ac.uk/ena/data/view/CH471088 EMBL CH471088 http://www.ebi.ac.uk/ena/data/view/CH471088 Ensembl ENST00000300591 http://www.ensembl.org/id/ENST00000300591 Ensembl ENST00000398686 http://www.ensembl.org/id/ENST00000398686 Ensembl ENST00000398705 http://www.ensembl.org/id/ENST00000398705 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0032420 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032420 GO_function GO:0005262 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005262 GO_process GO:0007605 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007605 GO_process GO:0050982 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050982 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 Gene3D 2.60.60.20 http://www.cathdb.info/version/latest/superfamily/2.60.60.20 GeneCards LOXHD1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=LOXHD1 GeneID 125336 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=125336 GeneTree ENSGT00390000018830 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000018830 HGNC HGNC:26521 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:26521 HOVERGEN HBG108091 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG108091&db=HOVERGEN HPA HPA042982 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA042982 InParanoid Q8IVV2 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8IVV2 InterPro IPR001024 http://www.ebi.ac.uk/interpro/entry/IPR001024 InterPro IPR033033 http://www.ebi.ac.uk/interpro/entry/IPR033033 Jabion 125336 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=125336 KEGG_Disease H00605 http://www.genome.jp/dbget-bin/www_bget?H00605 KEGG_Gene hsa:125336 http://www.genome.jp/dbget-bin/www_bget?hsa:125336 MIM 613072 http://www.ncbi.nlm.nih.gov/omim/613072 MIM 613079 http://www.ncbi.nlm.nih.gov/omim/613079 Orphanet 90636 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=90636 PANTHER PTHR10877:SF137 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10877:SF137 PROSITE PS50095 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50095 PSORT swissprot:LOXH1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:LOXH1_HUMAN PSORT-B swissprot:LOXH1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:LOXH1_HUMAN PSORT2 swissprot:LOXH1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:LOXH1_HUMAN Pfam PF01477 http://pfam.xfam.org/family/PF01477 PharmGKB PA134878065 http://www.pharmgkb.org/do/serve?objId=PA134878065&objCls=Gene Phobius swissprot:LOXH1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:LOXH1_HUMAN PhylomeDB Q8IVV2 http://phylomedb.org/?seqid=Q8IVV2 ProteinModelPortal Q8IVV2 http://www.proteinmodelportal.org/query/uniprot/Q8IVV2 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16177791 http://www.ncbi.nlm.nih.gov/pubmed/16177791 PubMed 19732867 http://www.ncbi.nlm.nih.gov/pubmed/19732867 RefSeq NP_001138944 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001138944 RefSeq NP_001138945 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001138945 RefSeq NP_001166600 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001166600 RefSeq NP_653213 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_653213 RefSeq XP_011524113 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011524113 SMART SM00308 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00308 SMR Q8IVV2 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q8IVV2 STRING 9606.ENSP00000300591 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000300591&targetmode=cogs SUPFAM SSF49723 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF49723 UCSC uc002lcd http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002lcd&org=rat UniGene Hs.345877 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.345877 UniProtKB LOXH1_HUMAN http://www.uniprot.org/uniprot/LOXH1_HUMAN UniProtKB-AC Q8IVV2 http://www.uniprot.org/uniprot/Q8IVV2 charge swissprot:LOXH1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:LOXH1_HUMAN eggNOG ENOG410IJEB http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IJEB eggNOG ENOG410XTDU http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XTDU epestfind swissprot:LOXH1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:LOXH1_HUMAN garnier swissprot:LOXH1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:LOXH1_HUMAN helixturnhelix swissprot:LOXH1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:LOXH1_HUMAN hmoment swissprot:LOXH1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:LOXH1_HUMAN iep swissprot:LOXH1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:LOXH1_HUMAN inforesidue swissprot:LOXH1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:LOXH1_HUMAN neXtProt NX_Q8IVV2 http://www.nextprot.org/db/entry/NX_Q8IVV2 octanol swissprot:LOXH1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:LOXH1_HUMAN pepcoil swissprot:LOXH1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:LOXH1_HUMAN pepdigest swissprot:LOXH1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:LOXH1_HUMAN pepinfo swissprot:LOXH1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:LOXH1_HUMAN pepnet swissprot:LOXH1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:LOXH1_HUMAN pepstats swissprot:LOXH1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:LOXH1_HUMAN pepwheel swissprot:LOXH1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:LOXH1_HUMAN pepwindow swissprot:LOXH1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:LOXH1_HUMAN sigcleave swissprot:LOXH1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:LOXH1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS P2RX4_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q99571-1; Sequence=Displayed; Name=2; IsoId=Q99571-2; Sequence=VSP_053812; Note=No experimental confirmation available.; Name=3; IsoId=Q99571-3; Sequence=VSP_053813; # AltName P2RX4_HUMAN ATP receptor # AltName P2RX4_HUMAN Purinergic receptor # BioGrid 111064 31 # CCDS CCDS58282 -. [Q99571-2] # CCDS CCDS9214 -. [Q99571-1] # ChiTaRS P2RX4 human # DrugBank DB09119 Eslicarbazepine acetate # Ensembl ENST00000337233 ENSP00000336607; ENSG00000135124. [Q99571-1] # Ensembl ENST00000359949 ENSP00000353032; ENSG00000135124. [Q99571-2] # Ensembl ENST00000542067 ENSP00000438329; ENSG00000135124. [Q99571-3] # ExpressionAtlas Q99571 baseline and differential # FUNCTION P2RX4_HUMAN Receptor for ATP that acts as a ligand-gated ion channel. This receptor is insensitive to the antagonists PPADS and suramin. {ECO 0000269|PubMed 10515189}. # GO_component GO:0005639 integral component of nuclear inner membrane; IBA:GO_Central. # GO_component GO:0005765 lysosomal membrane; IDA:UniProtKB. # GO_component GO:0005886 plasma membrane; ISS:BHF-UCL. # GO_component GO:0005887 integral component of plasma membrane; IMP:UniProtKB. # GO_component GO:0014069 postsynaptic density; IEA:Ensembl. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0030054 cell junction; IDA:BHF-UCL. # GO_component GO:0043025 neuronal cell body; IEA:Ensembl. # GO_component GO:0043195 terminal bouton; IEA:Ensembl. # GO_component GO:0043197 dendritic spine; IEA:Ensembl. # GO_component GO:0048471 perinuclear region of cytoplasm; IDA:BHF-UCL. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0001614 purinergic nucleotide receptor activity; IDA:BHF-UCL. # GO_function GO:0004931 extracellular ATP-gated cation channel activity; IDA:UniProtKB. # GO_function GO:0005102 receptor binding; ISS:BHF-UCL. # GO_function GO:0005507 copper ion binding; ISS:BHF-UCL. # GO_function GO:0005524 ATP binding; IC:BHF-UCL. # GO_function GO:0008144 drug binding; IEA:Ensembl. # GO_function GO:0008270 zinc ion binding; ISS:BHF-UCL. # GO_function GO:0042803 protein homodimerization activity; NAS:BHF-UCL. # GO_function GO:0045296 cadherin binding; IPI:BHF-UCL. # GO_process GO:0001894 tissue homeostasis; NAS:BHF-UCL. # GO_process GO:0002028 regulation of sodium ion transport; ISS:BHF-UCL. # GO_process GO:0006810 transport; IDA:BHF-UCL. # GO_process GO:0007165 signal transduction; IDA:BHF-UCL. # GO_process GO:0007596 blood coagulation; TAS:Reactome. # GO_process GO:0008217 regulation of blood pressure; IMP:BHF-UCL. # GO_process GO:0010524 positive regulation of calcium ion transport into cytosol; IDA:BHF-UCL. # GO_process GO:0010614 negative regulation of cardiac muscle hypertrophy; IMP:BHF-UCL. # GO_process GO:0019228 neuronal action potential; IEA:Ensembl. # GO_process GO:0019233 sensory perception of pain; ISS:BHF-UCL. # GO_process GO:0032308 positive regulation of prostaglandin secretion; NAS:BHF-UCL. # GO_process GO:0033198 response to ATP; IDA:BHF-UCL. # GO_process GO:0034220 ion transmembrane transport; IDA:UniProtKB. # GO_process GO:0034405 response to fluid shear stress; IDA:BHF-UCL. # GO_process GO:0035590 purinergic nucleotide receptor signaling pathway; IMP:BHF-UCL. # GO_process GO:0042118 endothelial cell activation; TAS:BHF-UCL. # GO_process GO:0045429 positive regulation of nitric oxide biosynthetic process; NAS:BHF-UCL. # GO_process GO:0050850 positive regulation of calcium-mediated signaling; IDA:BHF-UCL. # GO_process GO:0051260 protein homooligomerization; IEA:Ensembl. # GO_process GO:0051899 membrane depolarization; IDA:BHF-UCL. # GO_process GO:0051928 positive regulation of calcium ion transport; NAS:BHF-UCL. # GO_process GO:0055117 regulation of cardiac muscle contraction; IMP:BHF-UCL. # GO_process GO:0055119 relaxation of cardiac muscle; IMP:BHF-UCL. # GO_process GO:0071318 cellular response to ATP; IDA:UniProtKB. # GO_process GO:0097190 apoptotic signaling pathway; IDA:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0050877 neurological system process # GOslim_process GO:0055085 transmembrane transport # Gene3D 2.60.490.10 -; 1. # Genevisible Q99571 HS # HGNC HGNC:8535 P2RX4 # INTERACTION P2RX4_HUMAN P26371 KRTAP5-9; NbExp=3; IntAct=EBI-2828248, EBI-3958099; Q7Z3S9 NOTCH2NL; NbExp=5; IntAct=EBI-2828248, EBI-945833; Q9NQM4 PIH1D3; NbExp=3; IntAct=EBI-2828248, EBI-10239299; # IntAct Q99571 8 # InterPro IPR001429 P2X_purnocptor # InterPro IPR003047 P2X4_purnocptor # InterPro IPR027309 P2X_extracellular_dom # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04020 Calcium signaling pathway # KEGG_Pathway ko04080 Neuroactive ligand-receptor interaction # MIM 600846 gene # Organism P2RX4_HUMAN Homo sapiens (Human) # PANTHER PTHR10125 PTHR10125 # PANTHER PTHR10125:SF18 PTHR10125:SF18 # PIRSF PIRSF005713 P2X_purinoceptor # PRINTS PR01307 P2XRECEPTOR # PRINTS PR01311 P2X4RECEPTOR # PROSITE PS01212 P2X_RECEPTOR # Pfam PF00864 P2X_receptor # Proteomes UP000005640 Chromosome 12 # Reactome R-HSA-139853 Elevation of cytosolic Ca2+ levels # Reactome R-HSA-418346 Platelet homeostasis # RecName P2RX4_HUMAN P2X purinoceptor 4 # RefSeq NP_001243725 NM_001256796.1. [Q99571-2] # RefSeq NP_001248326 NM_001261397.1. [Q99571-3] # RefSeq NP_002551 NM_002560.2. [Q99571-1] # SIMILARITY Belongs to the P2X receptor family. {ECO 0000305}. # SUBCELLULAR LOCATION P2RX4_HUMAN Membrane {ECO 0000269|PubMed 10515189}; Multi-pass membrane protein {ECO 0000269|PubMed 10515189}. # SUBUNIT Functional P2XRs are organized as homomeric and heteromeric trimers. {ECO 0000250}. # TCDB 1.A.7.1 the atp-gated p2x receptor cation channel (p2x receptor) family # TIGRFAMs TIGR00863 P2X # UCSC uc001tzr human. [Q99571-1] # WEB RESOURCE P2RX4_HUMAN Name=Wikipedia; Note=P2X receptor entry; URL="https //en.wikipedia.org/wiki/P2X_receptor"; # eggNOG ENOG410IFJF Eukaryota # eggNOG ENOG410XR0C LUCA BLAST swissprot:P2RX4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:P2RX4_HUMAN BioCyc ZFISH:ENSG00000135124-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000135124-MONOMER COXPRESdb 5025 http://coxpresdb.jp/data/gene/5025.shtml CleanEx HS_P2RX4 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_P2RX4 DOI 10.1016/S0304-3940(99)00653-9 http://dx.doi.org/10.1016/S0304-3940(99)00653-9 DOI 10.1021/pr8008012 http://dx.doi.org/10.1021/pr8008012 DOI 10.1038/nature04569 http://dx.doi.org/10.1038/nature04569 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DrugBank DB09119 http://www.drugbank.ca/drugs/DB09119 EMBL AC069209 http://www.ebi.ac.uk/ena/data/view/AC069209 EMBL AF000234 http://www.ebi.ac.uk/ena/data/view/AF000234 EMBL AF012903 http://www.ebi.ac.uk/ena/data/view/AF012903 EMBL AF191093 http://www.ebi.ac.uk/ena/data/view/AF191093 EMBL BC033826 http://www.ebi.ac.uk/ena/data/view/BC033826 EMBL BT019738 http://www.ebi.ac.uk/ena/data/view/BT019738 EMBL BT019739 http://www.ebi.ac.uk/ena/data/view/BT019739 EMBL U83993 http://www.ebi.ac.uk/ena/data/view/U83993 EMBL U85971 http://www.ebi.ac.uk/ena/data/view/U85971 EMBL U85972 http://www.ebi.ac.uk/ena/data/view/U85972 EMBL U85973 http://www.ebi.ac.uk/ena/data/view/U85973 EMBL U85974 http://www.ebi.ac.uk/ena/data/view/U85974 EMBL U85975 http://www.ebi.ac.uk/ena/data/view/U85975 EMBL U87270 http://www.ebi.ac.uk/ena/data/view/U87270 EMBL Y07684 http://www.ebi.ac.uk/ena/data/view/Y07684 Ensembl ENST00000337233 http://www.ensembl.org/id/ENST00000337233 Ensembl ENST00000359949 http://www.ensembl.org/id/ENST00000359949 Ensembl ENST00000542067 http://www.ensembl.org/id/ENST00000542067 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005639 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005639 GO_component GO:0005765 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005765 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0014069 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014069 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0043025 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043025 GO_component GO:0043195 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043195 GO_component GO:0043197 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043197 GO_component GO:0048471 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048471 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0001614 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001614 GO_function GO:0004931 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004931 GO_function GO:0005102 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005102 GO_function GO:0005507 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005507 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0008144 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008144 GO_function GO:0008270 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008270 GO_function GO:0042803 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042803 GO_function GO:0045296 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045296 GO_process GO:0001894 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001894 GO_process GO:0002028 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002028 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GO_process GO:0007596 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007596 GO_process GO:0008217 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008217 GO_process GO:0010524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010524 GO_process GO:0010614 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010614 GO_process GO:0019228 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019228 GO_process GO:0019233 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019233 GO_process GO:0032308 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032308 GO_process GO:0033198 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033198 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0034405 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034405 GO_process GO:0035590 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035590 GO_process GO:0042118 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042118 GO_process GO:0045429 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045429 GO_process GO:0050850 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050850 GO_process GO:0051260 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051260 GO_process GO:0051899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051899 GO_process GO:0051928 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051928 GO_process GO:0055117 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055117 GO_process GO:0055119 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055119 GO_process GO:0071318 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071318 GO_process GO:0097190 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097190 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 2.60.490.10 http://www.cathdb.info/version/latest/superfamily/2.60.490.10 GeneCards P2RX4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=P2RX4 GeneID 5025 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=5025 GeneTree ENSGT00390000016028 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000016028 HGNC HGNC:8535 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:8535 HOGENOM HOG000232042 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000232042&db=HOGENOM6 HOVERGEN HBG053086 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG053086&db=HOVERGEN HPA HPA039494 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA039494 InParanoid Q99571 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q99571 IntAct Q99571 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q99571* InterPro IPR001429 http://www.ebi.ac.uk/interpro/entry/IPR001429 InterPro IPR003047 http://www.ebi.ac.uk/interpro/entry/IPR003047 InterPro IPR027309 http://www.ebi.ac.uk/interpro/entry/IPR027309 Jabion 5025 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=5025 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:5025 http://www.genome.jp/dbget-bin/www_bget?hsa:5025 KEGG_Orthology KO:K05218 http://www.genome.jp/dbget-bin/www_bget?KO:K05218 KEGG_Pathway ko04020 http://www.genome.jp/kegg-bin/show_pathway?ko04020 KEGG_Pathway ko04080 http://www.genome.jp/kegg-bin/show_pathway?ko04080 MIM 600846 http://www.ncbi.nlm.nih.gov/omim/600846 OMA TMINVGS http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=TMINVGS OrthoDB EOG091G0A2U http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0A2U PANTHER PTHR10125 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10125 PANTHER PTHR10125:SF18 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10125:SF18 PRINTS PR01307 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01307 PRINTS PR01311 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01311 PROSITE PS01212 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS01212 PSORT swissprot:P2RX4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:P2RX4_HUMAN PSORT-B swissprot:P2RX4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:P2RX4_HUMAN PSORT2 swissprot:P2RX4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:P2RX4_HUMAN Pfam PF00864 http://pfam.xfam.org/family/PF00864 PharmGKB PA32864 http://www.pharmgkb.org/do/serve?objId=PA32864&objCls=Gene Phobius swissprot:P2RX4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:P2RX4_HUMAN PhylomeDB Q99571 http://phylomedb.org/?seqid=Q99571 ProteinModelPortal Q99571 http://www.proteinmodelportal.org/query/uniprot/Q99571 PubMed 10515189 http://www.ncbi.nlm.nih.gov/pubmed/10515189 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16541075 http://www.ncbi.nlm.nih.gov/pubmed/16541075 PubMed 19159218 http://www.ncbi.nlm.nih.gov/pubmed/19159218 PubMed 9016352 http://www.ncbi.nlm.nih.gov/pubmed/9016352 Reactome R-HSA-139853 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-139853 Reactome R-HSA-418346 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-418346 RefSeq NP_001243725 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001243725 RefSeq NP_001248326 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001248326 RefSeq NP_002551 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_002551 SMR Q99571 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q99571 STRING 9606.ENSP00000336607 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000336607&targetmode=cogs TCDB 1.A.7.1 http://www.tcdb.org/search/result.php?tc=1.A.7.1 TIGRFAMs TIGR00863 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00863 UCSC uc001tzr http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001tzr&org=rat UniGene Hs.321709 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.321709 UniProtKB P2RX4_HUMAN http://www.uniprot.org/uniprot/P2RX4_HUMAN UniProtKB-AC Q99571 http://www.uniprot.org/uniprot/Q99571 charge swissprot:P2RX4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:P2RX4_HUMAN eggNOG ENOG410IFJF http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IFJF eggNOG ENOG410XR0C http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XR0C epestfind swissprot:P2RX4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:P2RX4_HUMAN garnier swissprot:P2RX4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:P2RX4_HUMAN helixturnhelix swissprot:P2RX4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:P2RX4_HUMAN hmoment swissprot:P2RX4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:P2RX4_HUMAN iep swissprot:P2RX4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:P2RX4_HUMAN inforesidue swissprot:P2RX4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:P2RX4_HUMAN neXtProt NX_Q99571 http://www.nextprot.org/db/entry/NX_Q99571 octanol swissprot:P2RX4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:P2RX4_HUMAN pepcoil swissprot:P2RX4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:P2RX4_HUMAN pepdigest swissprot:P2RX4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:P2RX4_HUMAN pepinfo swissprot:P2RX4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:P2RX4_HUMAN pepnet swissprot:P2RX4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:P2RX4_HUMAN pepstats swissprot:P2RX4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:P2RX4_HUMAN pepwheel swissprot:P2RX4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:P2RX4_HUMAN pepwindow swissprot:P2RX4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:P2RX4_HUMAN sigcleave swissprot:P2RX4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:P2RX4_HUMAN ## Database ID URL or Descriptions # AltName HDBP1_HUMAN High density lipoprotein-binding protein 1 # DISEASE HDBP1_HUMAN Hyperlipoproteinemia 1D (HLPP1D) [MIM 615947] An autosomal recessive disorder characterized by hyperlipoproteinemia, decreased plasma LPL levels in some patients, high plasma triglyceride levels, and refractory fasting chylomicronemia. {ECO 0000269|PubMed 19304573, ECO 0000269|PubMed 20026666, ECO 0000269|PubMed 21816778}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000622500 ENSP00000480053; ENSG00000277494 # FUNCTION HDBP1_HUMAN Plays a key role in the lipolytic processing of chylomicrons. Required for the transport of lipoprotein lipase LPL into the capillary lumen (By similarity). {ECO 0000250}. # GO_component GO:0005622 intracellular; IEA:GOC. # GO_component GO:0009897 external side of plasma membrane; IDA:BHF-UCL. # GO_component GO:0016323 basolateral plasma membrane; ISS:BHF-UCL. # GO_component GO:0016324 apical plasma membrane; ISS:BHF-UCL. # GO_component GO:0031362 anchored component of external side of plasma membrane; IDA:BHF-UCL. # GO_component GO:0034364 high-density lipoprotein particle; IEA:UniProtKB-KW. # GO_function GO:0008035 high-density lipoprotein particle binding; IEA:Ensembl. # GO_function GO:0008289 lipid binding; IEA:UniProtKB-KW. # GO_function GO:0008320 protein transmembrane transporter activity; ISS:BHF-UCL. # GO_function GO:0035473 lipase binding; IPI:BHF-UCL. # GO_function GO:0035478 chylomicron binding; IDA:BHF-UCL. # GO_function GO:0071813 lipoprotein particle binding; IDA:UniProtKB. # GO_process GO:0006869 lipid transport; IEA:Ensembl. # GO_process GO:0006886 intracellular protein transport; ISS:BHF-UCL. # GO_process GO:0017038 protein import; ISS:BHF-UCL. # GO_process GO:0034394 protein localization to cell surface; ISS:BHF-UCL. # GO_process GO:0042632 cholesterol homeostasis; ISS:BHF-UCL. # GO_process GO:0045056 transcytosis; ISS:BHF-UCL. # GO_process GO:0050821 protein stabilization; ISS:BHF-UCL. # GO_process GO:0051006 positive regulation of lipoprotein lipase activity; IMP:BHF-UCL. # GO_process GO:0070328 triglyceride homeostasis; IMP:BHF-UCL. # GO_process GO:0071503 response to heparin; IMP:BHF-UCL. # GO_process GO:0090321 positive regulation of chylomicron remnant clearance; ISS:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005622 intracellular # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0008289 lipid binding # GOslim_function GO:0008565 protein transporter activity # GOslim_function GO:0019899 enzyme binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0016192 vesicle-mediated transport # GOslim_process GO:0042592 homeostatic process # Genevisible Q8IV16 HS # HGNC HGNC:24945 GPIHBP1 # InterPro IPR016054 LY6_UPA_recep-like # MIM 612757 gene # MIM 615947 phenotype # Organism HDBP1_HUMAN Homo sapiens (Human) # Orphanet 411 Hyperlipoproteinemia type 1 # Orphanet 70470 Hyperlipoproteinemia type 5 # POLYMORPHISM HDBP1_HUMAN The missense variant Arg-56 may be associated with severe hypertriglyceridemia and chylomicronemia. # PTM HDBP1_HUMAN Glycosylation of Asn-78 is critical for cell surface localization and the binding of chylomicrons and lipoprotein lipase. {ECO 0000250}. # Pfam PF00021 UPAR_LY6 # Proteomes UP000005640 Chromosome 8 # Reactome R-HSA-174800 Chylomicron-mediated lipid transport # Reactome R-HSA-975634 Retinoid metabolism and transport # RecName HDBP1_HUMAN Glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 # RefSeq NP_001288701 NM_001301772.1 # RefSeq NP_835466 NM_178172.5 # SIMILARITY Contains 1 UPAR/Ly6 domain. {ECO 0000305}. # SUBCELLULAR LOCATION HDBP1_HUMAN Apical cell membrane {ECO 0000250|UniProtKB Q9D1N2}; Lipid-anchor, GPI-anchor {ECO 0000250|UniProtKB Q9D1N2}. Basolateral cell membrane {ECO 0000250|UniProtKB Q9D1N2}; Lipid-anchor, GPI-anchor {ECO 0000250|UniProtKB Q9D1N2}. Cell membrane {ECO 0000250|UniProtKB Q9D1N2}; Peripheral membrane protein {ECO 0000250|UniProtKB Q9D1N2}; Extracellular side {ECO 0000250|UniProtKB Q9D1N2}. # SUBUNIT Binds with high affinity to high-density lipoprotein (HDL) (By similarity). Binds to lipoprotein lipase (LPL), chylomicrons and APOA5. {ECO 0000250}. # UCSC uc033cbs human # eggNOG ENOG410J46G Eukaryota # eggNOG ENOG41116TR LUCA BLAST swissprot:HDBP1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:HDBP1_HUMAN COXPRESdb 338328 http://coxpresdb.jp/data/gene/338328.shtml CleanEx HS_GPIHBP1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_GPIHBP1 CleanEx HS_HBP1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_HBP1 DOI 10.1016/j.bbalip.2007.10.005 http://dx.doi.org/10.1016/j.bbalip.2007.10.005 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1161/ATVBAHA.109.186577 http://dx.doi.org/10.1161/ATVBAHA.109.186577 DOI 10.1186/1476-511X-6-23 http://dx.doi.org/10.1186/1476-511X-6-23 DOI 10.1194/jlr.M002717 http://dx.doi.org/10.1194/jlr.M002717 DOI 10.1194/jlr.R018689 http://dx.doi.org/10.1194/jlr.R018689 DOI 10.1210/jc.2011-1444 http://dx.doi.org/10.1210/jc.2011-1444 EMBL AY245915 http://www.ebi.ac.uk/ena/data/view/AY245915 EMBL BC035810 http://www.ebi.ac.uk/ena/data/view/BC035810 EMBL BC063857 http://www.ebi.ac.uk/ena/data/view/BC063857 EMBL CH471162 http://www.ebi.ac.uk/ena/data/view/CH471162 Ensembl ENST00000622500 http://www.ensembl.org/id/ENST00000622500 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005622 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005622 GO_component GO:0009897 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009897 GO_component GO:0016323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016323 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:0031362 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031362 GO_component GO:0034364 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034364 GO_function GO:0008035 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008035 GO_function GO:0008289 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008289 GO_function GO:0008320 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008320 GO_function GO:0035473 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035473 GO_function GO:0035478 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035478 GO_function GO:0071813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071813 GO_process GO:0006869 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006869 GO_process GO:0006886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006886 GO_process GO:0017038 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0017038 GO_process GO:0034394 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034394 GO_process GO:0042632 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042632 GO_process GO:0045056 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045056 GO_process GO:0050821 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050821 GO_process GO:0051006 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051006 GO_process GO:0070328 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070328 GO_process GO:0071503 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071503 GO_process GO:0090321 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090321 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005622 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005622 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0008289 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008289 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_function GO:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0016192 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016192 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GeneCards GPIHBP1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=GPIHBP1 GeneID 338328 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=338328 HGNC HGNC:24945 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:24945 HOGENOM HOG000112872 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000112872&db=HOGENOM6 HPA HPA066302 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA066302 InParanoid Q8IV16 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8IV16 IntAct Q8IV16 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q8IV16* InterPro IPR016054 http://www.ebi.ac.uk/interpro/entry/IPR016054 Jabion 338328 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=338328 KEGG_Gene hsa:338328 http://www.genome.jp/dbget-bin/www_bget?hsa:338328 MIM 612757 http://www.ncbi.nlm.nih.gov/omim/612757 MIM 615947 http://www.ncbi.nlm.nih.gov/omim/615947 Orphanet 411 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=411 Orphanet 70470 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=70470 OrthoDB EOG091G0UW5 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0UW5 PSORT swissprot:HDBP1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:HDBP1_HUMAN PSORT-B swissprot:HDBP1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:HDBP1_HUMAN PSORT2 swissprot:HDBP1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:HDBP1_HUMAN Pfam PF00021 http://pfam.xfam.org/family/PF00021 PharmGKB PA162390135 http://www.pharmgkb.org/do/serve?objId=PA162390135&objCls=Gene Phobius swissprot:HDBP1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:HDBP1_HUMAN PhylomeDB Q8IV16 http://phylomedb.org/?seqid=Q8IV16 ProteinModelPortal Q8IV16 http://www.proteinmodelportal.org/query/uniprot/Q8IV16 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 17883852 http://www.ncbi.nlm.nih.gov/pubmed/17883852 PubMed 17997385 http://www.ncbi.nlm.nih.gov/pubmed/17997385 PubMed 19304573 http://www.ncbi.nlm.nih.gov/pubmed/19304573 PubMed 20026666 http://www.ncbi.nlm.nih.gov/pubmed/20026666 PubMed 21816778 http://www.ncbi.nlm.nih.gov/pubmed/21816778 PubMed 21844202 http://www.ncbi.nlm.nih.gov/pubmed/21844202 Reactome R-HSA-174800 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-174800 Reactome R-HSA-975634 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-975634 RefSeq NP_001288701 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001288701 RefSeq NP_835466 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_835466 STRING 9606.ENSP00000329266 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000329266&targetmode=cogs UCSC uc033cbs http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc033cbs&org=rat UniGene Hs.426410 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.426410 UniProtKB HDBP1_HUMAN http://www.uniprot.org/uniprot/HDBP1_HUMAN UniProtKB-AC Q8IV16 http://www.uniprot.org/uniprot/Q8IV16 charge swissprot:HDBP1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:HDBP1_HUMAN eggNOG ENOG410J46G http://eggnogapi.embl.de/nog_data/html/tree/ENOG410J46G eggNOG ENOG41116TR http://eggnogapi.embl.de/nog_data/html/tree/ENOG41116TR epestfind swissprot:HDBP1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:HDBP1_HUMAN garnier swissprot:HDBP1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:HDBP1_HUMAN helixturnhelix swissprot:HDBP1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:HDBP1_HUMAN hmoment swissprot:HDBP1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:HDBP1_HUMAN iep swissprot:HDBP1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:HDBP1_HUMAN inforesidue swissprot:HDBP1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:HDBP1_HUMAN neXtProt NX_Q8IV16 http://www.nextprot.org/db/entry/NX_Q8IV16 octanol swissprot:HDBP1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:HDBP1_HUMAN pepcoil swissprot:HDBP1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:HDBP1_HUMAN pepdigest swissprot:HDBP1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:HDBP1_HUMAN pepinfo swissprot:HDBP1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:HDBP1_HUMAN pepnet swissprot:HDBP1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:HDBP1_HUMAN pepstats swissprot:HDBP1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:HDBP1_HUMAN pepwheel swissprot:HDBP1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:HDBP1_HUMAN pepwindow swissprot:HDBP1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:HDBP1_HUMAN sigcleave swissprot:HDBP1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:HDBP1_HUMAN ## Database ID URL or Descriptions # AltName SL9C2_HUMAN Na(+)/H(+) exchanger 11 # AltName SL9C2_HUMAN Solute carrier family 9 member 11 # AltName SL9C2_HUMAN Solute carrier family 9 member C2 # DOMAIN SL9C2_HUMAN Contains an ion transport-like region is related to the membrane segments of voltage-gated ion channels. {ECO 0000250}. # Ensembl ENST00000367714 ENSP00000356687; ENSG00000162753 # FUNCTION SL9C2_HUMAN Involved in pH regulation. {ECO 0000250}. # GO_component GO:0005886 plasma membrane; IBA:GO_Central. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function SL9C2_HUMAN GO 0015385 sodium proton antiporter activity; IBA GO_Central. # GO_function SL9C2_HUMAN GO 0015386 potassium proton antiporter activity; IBA GO_Central. # GO_process GO:0051453 regulation of intracellular pH; IBA:GO_Central. # GO_process GO:0071805 potassium ion transmembrane transport; IBA:GO_Central. # GO_process GO:0098719 sodium ion import across plasma membrane; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.20.120.350 -; 1. # Gene3D 2.60.120.10 -; 1. # Genevisible Q5TAH2 HS # HGNC HGNC:28664 SLC9C2 # InterPro IPR000595 cNMP-bd_dom # InterPro IPR006153 Cation/H_exchanger # InterPro IPR014710 RmlC-like_jellyroll # InterPro IPR018422 Cation/H_exchanger_CPA1 # InterPro IPR018490 cNMP-bd-like # InterPro IPR027359 Channel_four-helix_dom # KEGG_Brite ko02001 Solute carrier family # Organism SL9C2_HUMAN Homo sapiens (Human) # PANTHER PTHR10110 PTHR10110; 2 # PROSITE PS50042 CNMP_BINDING_3 # Pfam PF00027 cNMP_binding # Pfam PF00999 Na_H_Exchanger # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-2672351 Stimuli-sensing channels # RecName SL9C2_HUMAN Sodium/hydrogen exchanger 11 # RefSeq NP_848622 NM_178527.3 # SIMILARITY Belongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family. {ECO 0000305}. # SIMILARITY Contains 1 cyclic nucleotide-binding domain. {ECO:0000255|PROSITE-ProRule PRU00060}. # SUBCELLULAR LOCATION SL9C2_HUMAN Membrane; Multi-pass membrane protein. # SUPFAM SSF51206 SSF51206 # TCDB 2.A.36.7:the monovalent cation proton antiporter-1 (cpa1) family # UCSC uc001giz human # eggNOG COG0025 LUCA # eggNOG KOG0100 Eukaryota BLAST swissprot:SL9C2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SL9C2_HUMAN COXPRESdb 284525 http://coxpresdb.jp/data/gene/284525.shtml CleanEx HS_SLC9A11 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC9A11 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AL139142 http://www.ebi.ac.uk/ena/data/view/AL139142 EMBL BC042592 http://www.ebi.ac.uk/ena/data/view/BC042592 Ensembl ENST00000367714 http://www.ensembl.org/id/ENST00000367714 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0015385 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015385 GO_function GO:0015386 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015386 GO_process GO:0051453 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051453 GO_process GO:0071805 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071805 GO_process GO:0098719 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0098719 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.20.120.350 http://www.cathdb.info/version/latest/superfamily/1.20.120.350 Gene3D 2.60.120.10 http://www.cathdb.info/version/latest/superfamily/2.60.120.10 GeneCards SLC9C2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC9C2 GeneID 284525 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=284525 GeneTree ENSGT00530000063840 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000063840 HGNC HGNC:28664 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:28664 HOGENOM HOG000154241 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000154241&db=HOGENOM6 HOVERGEN HBG102046 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG102046&db=HOVERGEN HPA HPA059122 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA059122 InParanoid Q5TAH2 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q5TAH2 InterPro IPR000595 http://www.ebi.ac.uk/interpro/entry/IPR000595 InterPro IPR006153 http://www.ebi.ac.uk/interpro/entry/IPR006153 InterPro IPR014710 http://www.ebi.ac.uk/interpro/entry/IPR014710 InterPro IPR018422 http://www.ebi.ac.uk/interpro/entry/IPR018422 InterPro IPR018490 http://www.ebi.ac.uk/interpro/entry/IPR018490 InterPro IPR027359 http://www.ebi.ac.uk/interpro/entry/IPR027359 Jabion 284525 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=284525 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:284525 http://www.genome.jp/dbget-bin/www_bget?hsa:284525 KEGG_Orthology KO:K14726 http://www.genome.jp/dbget-bin/www_bget?KO:K14726 OMA TPDKYLH http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=TPDKYLH OrthoDB EOG091G031U http://cegg.unige.ch/orthodb/results?searchtext=EOG091G031U PANTHER PTHR10110 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10110 PROSITE PS50042 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50042 PSORT swissprot:SL9C2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SL9C2_HUMAN PSORT-B swissprot:SL9C2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SL9C2_HUMAN PSORT2 swissprot:SL9C2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SL9C2_HUMAN Pfam PF00027 http://pfam.xfam.org/family/PF00027 Pfam PF00999 http://pfam.xfam.org/family/PF00999 PharmGKB PA134865165 http://www.pharmgkb.org/do/serve?objId=PA134865165&objCls=Gene Phobius swissprot:SL9C2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SL9C2_HUMAN PhylomeDB Q5TAH2 http://phylomedb.org/?seqid=Q5TAH2 ProteinModelPortal Q5TAH2 http://www.proteinmodelportal.org/query/uniprot/Q5TAH2 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 Reactome R-HSA-2672351 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2672351 RefSeq NP_848622 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_848622 SMR Q5TAH2 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q5TAH2 STRING 9606.ENSP00000356687 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000356687&targetmode=cogs SUPFAM SSF51206 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF51206 TCDB 2.A.36.7 http://www.tcdb.org/search/result.php?tc=2.A.36.7 UCSC uc001giz http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001giz&org=rat UniGene Hs.494981 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.494981 UniProtKB SL9C2_HUMAN http://www.uniprot.org/uniprot/SL9C2_HUMAN UniProtKB-AC Q5TAH2 http://www.uniprot.org/uniprot/Q5TAH2 charge swissprot:SL9C2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SL9C2_HUMAN eggNOG COG0025 http://eggnogapi.embl.de/nog_data/html/tree/COG0025 eggNOG KOG0100 http://eggnogapi.embl.de/nog_data/html/tree/KOG0100 epestfind swissprot:SL9C2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SL9C2_HUMAN garnier swissprot:SL9C2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SL9C2_HUMAN helixturnhelix swissprot:SL9C2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SL9C2_HUMAN hmoment swissprot:SL9C2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SL9C2_HUMAN iep swissprot:SL9C2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SL9C2_HUMAN inforesidue swissprot:SL9C2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SL9C2_HUMAN neXtProt NX_Q5TAH2 http://www.nextprot.org/db/entry/NX_Q5TAH2 octanol swissprot:SL9C2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SL9C2_HUMAN pepcoil swissprot:SL9C2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SL9C2_HUMAN pepdigest swissprot:SL9C2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SL9C2_HUMAN pepinfo swissprot:SL9C2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SL9C2_HUMAN pepnet swissprot:SL9C2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SL9C2_HUMAN pepstats swissprot:SL9C2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SL9C2_HUMAN pepwheel swissprot:SL9C2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SL9C2_HUMAN pepwindow swissprot:SL9C2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SL9C2_HUMAN sigcleave swissprot:SL9C2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SL9C2_HUMAN ## Database ID URL or Descriptions # BioGrid 107564 3 # ChiTaRS CHRNB3 human # DrugBank DB00184 Nicotine # DrugBank DB00674 Galantamine # DrugBank DB00898 Ethanol # Ensembl ENST00000289957 ENSP00000289957; ENSG00000147432 # FUNCTION ACHB3_HUMAN After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005892 acetylcholine-gated channel complex; TAS:ProtInc. # GO_component GO:0016021 integral component of membrane; NAS:UniProtKB. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0043005 neuron projection; IEA:Ensembl. # GO_component GO:0045211 postsynaptic membrane; IEA:UniProtKB-SubCell. # GO_function GO:0004889 acetylcholine-activated cation-selective channel activity; TAS:ProtInc. # GO_function GO:0008144 drug binding; IEA:Ensembl. # GO_function GO:0015267 channel activity; TAS:ProtInc. # GO_function GO:0015276 ligand-gated ion channel activity; TAS:Reactome. # GO_function GO:0042166 acetylcholine binding; IEA:Ensembl. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0007165 signal transduction; TAS:ProtInc. # GO_process GO:0007271 synaptic transmission, cholinergic; TAS:ProtInc. # GO_process GO:0007274 neuromuscular synaptic transmission; IBA:GO_Central. # GO_process GO:0035094 response to nicotine; IBA:GO_Central. # GO_process GO:0051291 protein heterooligomerization; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # Gene3D 1.20.120.370 -; 2. # Gene3D 2.70.170.10 -; 1. # Genevisible Q05901 HS # HGNC HGNC:1963 CHRNB3 # InterPro IPR002394 Nicotinic_acetylcholine_rcpt # InterPro IPR006029 Neurotrans-gated_channel_TM # InterPro IPR006201 Neur_channel # InterPro IPR006202 Neur_chan_lig-bd # InterPro IPR018000 Neurotransmitter_ion_chnl_CS # InterPro IPR027361 Acetylcholine_rcpt_TM # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04080 Neuroactive ligand-receptor interaction # MIM 118508 gene # Organism ACHB3_HUMAN Homo sapiens (Human) # PANTHER PTHR18945 PTHR18945 # PIR I38056 I38056 # PRINTS PR00252 NRIONCHANNEL # PRINTS PR00254 NICOTINICR # PROSITE PS00236 NEUROTR_ION_CHANNEL # Pfam PF02931 Neur_chan_LBD # Pfam PF02932 Neur_chan_memb; 2 # Proteomes UP000005640 Chromosome 8 # Reactome R-HSA-629594 Highly calcium permeable postsynaptic nicotinic acetylcholine receptors # Reactome R-HSA-629597 Highly calcium permeable nicotinic acetylcholine receptors # RecName ACHB3_HUMAN Neuronal acetylcholine receptor subunit beta-3 # RefSeq NP_000740 NM_000749.3 # SIMILARITY Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Beta- 3/CHRNB3 sub-subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION ACHB3_HUMAN Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. # SUBUNIT Neuronal AChR seems to be composed of two different type of subunits alpha and beta. # SUPFAM SSF63712 SSF63712 # SUPFAM SSF90112 SSF90112 # TIGRFAMs TIGR00860 LIC # UCSC uc003xpi human # eggNOG ENOG410XQGR LUCA # eggNOG KOG3645 Eukaryota BLAST swissprot:ACHB3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ACHB3_HUMAN BioCyc ZFISH:ENSG00000147432-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000147432-MONOMER COXPRESdb 1142 http://coxpresdb.jp/data/gene/1142.shtml CleanEx HS_CHRNB3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CHRNB3 DOI 10.1007/BF02736842 http://dx.doi.org/10.1007/BF02736842 DOI 10.1016/0304-3940(93)90691-D http://dx.doi.org/10.1016/0304-3940(93)90691-D DOI 10.1016/S0014-5793(96)01383-X http://dx.doi.org/10.1016/S0014-5793(96)01383-X DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DrugBank DB00184 http://www.drugbank.ca/drugs/DB00184 DrugBank DB00674 http://www.drugbank.ca/drugs/DB00674 DrugBank DB00898 http://www.drugbank.ca/drugs/DB00898 EMBL AF140760 http://www.ebi.ac.uk/ena/data/view/AF140760 EMBL AF140761 http://www.ebi.ac.uk/ena/data/view/AF140761 EMBL AF140762 http://www.ebi.ac.uk/ena/data/view/AF140762 EMBL AF140763 http://www.ebi.ac.uk/ena/data/view/AF140763 EMBL AF140764 http://www.ebi.ac.uk/ena/data/view/AF140764 EMBL AF140765 http://www.ebi.ac.uk/ena/data/view/AF140765 EMBL BC069681 http://www.ebi.ac.uk/ena/data/view/BC069681 EMBL BC069703 http://www.ebi.ac.uk/ena/data/view/BC069703 EMBL BC069788 http://www.ebi.ac.uk/ena/data/view/BC069788 EMBL U62438 http://www.ebi.ac.uk/ena/data/view/U62438 EMBL X67513 http://www.ebi.ac.uk/ena/data/view/X67513 EMBL Y08417 http://www.ebi.ac.uk/ena/data/view/Y08417 Ensembl ENST00000289957 http://www.ensembl.org/id/ENST00000289957 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005892 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005892 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0043005 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043005 GO_component GO:0045211 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045211 GO_function GO:0004889 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004889 GO_function GO:0008144 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008144 GO_function GO:0015267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015267 GO_function GO:0015276 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015276 GO_function GO:0042166 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042166 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GO_process GO:0007271 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007271 GO_process GO:0007274 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007274 GO_process GO:0035094 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035094 GO_process GO:0051291 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051291 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 Gene3D 1.20.120.370 http://www.cathdb.info/version/latest/superfamily/1.20.120.370 Gene3D 2.70.170.10 http://www.cathdb.info/version/latest/superfamily/2.70.170.10 GeneCards CHRNB3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CHRNB3 GeneID 1142 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=1142 GeneTree ENSGT00760000118930 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118930 HGNC HGNC:1963 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:1963 HOGENOM HOG000006756 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000006756&db=HOGENOM6 HOVERGEN HBG003756 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG003756&db=HOVERGEN HPA HPA045555 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA045555 InParanoid Q05901 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q05901 InterPro IPR002394 http://www.ebi.ac.uk/interpro/entry/IPR002394 InterPro IPR006029 http://www.ebi.ac.uk/interpro/entry/IPR006029 InterPro IPR006201 http://www.ebi.ac.uk/interpro/entry/IPR006201 InterPro IPR006202 http://www.ebi.ac.uk/interpro/entry/IPR006202 InterPro IPR018000 http://www.ebi.ac.uk/interpro/entry/IPR018000 InterPro IPR027361 http://www.ebi.ac.uk/interpro/entry/IPR027361 Jabion 1142 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=1142 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:1142 http://www.genome.jp/dbget-bin/www_bget?hsa:1142 KEGG_Orthology KO:K04814 http://www.genome.jp/dbget-bin/www_bget?KO:K04814 KEGG_Pathway ko04080 http://www.genome.jp/kegg-bin/show_pathway?ko04080 MIM 118508 http://www.ncbi.nlm.nih.gov/omim/118508 OMA DHKLSWN http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=DHKLSWN OrthoDB EOG091G0R20 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0R20 PANTHER PTHR18945 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR18945 PRINTS PR00252 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00252 PRINTS PR00254 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00254 PROSITE PS00236 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00236 PSORT swissprot:ACHB3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ACHB3_HUMAN PSORT-B swissprot:ACHB3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ACHB3_HUMAN PSORT2 swissprot:ACHB3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ACHB3_HUMAN Pfam PF02931 http://pfam.xfam.org/family/PF02931 Pfam PF02932 http://pfam.xfam.org/family/PF02932 PharmGKB PA26495 http://www.pharmgkb.org/do/serve?objId=PA26495&objCls=Gene Phobius swissprot:ACHB3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ACHB3_HUMAN PhylomeDB Q05901 http://phylomedb.org/?seqid=Q05901 ProteinModelPortal Q05901 http://www.proteinmodelportal.org/query/uniprot/Q05901 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 7690916 http://www.ncbi.nlm.nih.gov/pubmed/7690916 PubMed 8906617 http://www.ncbi.nlm.nih.gov/pubmed/8906617 PubMed 9009220 http://www.ncbi.nlm.nih.gov/pubmed/9009220 Reactome R-HSA-629594 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-629594 Reactome R-HSA-629597 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-629597 RefSeq NP_000740 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000740 STRING 9606.ENSP00000289957 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000289957&targetmode=cogs SUPFAM SSF63712 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF63712 SUPFAM SSF90112 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF90112 TIGRFAMs TIGR00860 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00860 UCSC uc003xpi http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003xpi&org=rat UniGene Hs.654576 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.654576 UniProtKB ACHB3_HUMAN http://www.uniprot.org/uniprot/ACHB3_HUMAN UniProtKB-AC Q05901 http://www.uniprot.org/uniprot/Q05901 charge swissprot:ACHB3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ACHB3_HUMAN eggNOG ENOG410XQGR http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XQGR eggNOG KOG3645 http://eggnogapi.embl.de/nog_data/html/tree/KOG3645 epestfind swissprot:ACHB3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ACHB3_HUMAN garnier swissprot:ACHB3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ACHB3_HUMAN helixturnhelix swissprot:ACHB3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ACHB3_HUMAN hmoment swissprot:ACHB3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ACHB3_HUMAN iep swissprot:ACHB3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ACHB3_HUMAN inforesidue swissprot:ACHB3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ACHB3_HUMAN neXtProt NX_Q05901 http://www.nextprot.org/db/entry/NX_Q05901 octanol swissprot:ACHB3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ACHB3_HUMAN pepcoil swissprot:ACHB3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ACHB3_HUMAN pepdigest swissprot:ACHB3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ACHB3_HUMAN pepinfo swissprot:ACHB3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ACHB3_HUMAN pepnet swissprot:ACHB3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ACHB3_HUMAN pepstats swissprot:ACHB3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ACHB3_HUMAN pepwheel swissprot:ACHB3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ACHB3_HUMAN pepwindow swissprot:ACHB3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ACHB3_HUMAN sigcleave swissprot:ACHB3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ACHB3_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS CEAM1_HUMAN Event=Alternative splicing; Named isoforms=11; Name=1; Synonyms=BGPa, CEACAM1-4L {ECO 0000303|PubMed 11501563}, TM1-CEA; IsoId=P13688-1; Sequence=Displayed; Name=2; Synonyms=BGPg, CEACAM1-4C1 {ECO 0000303|PubMed 11501563}; IsoId=P13688-2; Sequence=VSP_002482, VSP_002483; Name=3; Synonyms=BGPh, CEACAM1-3 {ECO 0000303|PubMed 11501563}; IsoId=P13688-3; Sequence=VSP_002478, VSP_002479; Name=4; Synonyms=BGPi, CEACAM1-3C2 {ECO 0000303|PubMed 11501563}; IsoId=P13688-4; Sequence=VSP_002480, VSP_002481; Name=5; Synonyms=BGPy, CEACAM1-3AL {ECO 0000303|PubMed 11501563}; IsoId=P13688-5; Sequence=VSP_009227; Note=Ref.6 (AAA57143) sequence is in conflict in position 323 N->L. Ref.6 (AAA57143) sequence is in conflict in position 337 Q->E. Ref.5 (BAA02063) sequence is in conflict in position 329 R->G. {ECO 0000305}; Name=6; Synonyms=BGPb, CEACAM1-3L {ECO 0000303|PubMed 11501563}, TM2-CEA; IsoId=P13688-6; Sequence=VSP_010938; Name=7; Synonyms=BGPx, CEACAM1-1L {ECO 0000303|PubMed 11501563}; IsoId=P13688-7; Sequence=VSP_012222; Name=8; Synonyms=BGPc, CEACAM1-4S {ECO 0000303|PubMed 11501563}, TM3-CEA; IsoId=P13688-8; Sequence=VSP_040572, VSP_040574; Note=Pseudophosphorylated double mutant Thr-457->Asp and Ser-459->Asp. The single mutant Ser-459->Asp mutant highly binds with ANXA2. {ECO 0000269|PubMed 14522961}; Name=9; Synonyms=BGPz, CEACAM1-3AS; IsoId=P13688-9; Sequence=VSP_040571, VSP_040572, VSP_040574; Name=10; IsoId=P13688-10; Sequence=VSP_040573, VSP_040575; Note=No experimental confirmation available.; Name=11; Synonyms=BGPd, CEACAM1-3S; IsoId=P13688-11; Sequence=VSP_010938, VSP_040572, VSP_040574; # AltName Biliary glycoprotein 1 {ECO:0000303|PubMed 7628460} # AltName CEAM1_HUMAN CD66a # BioGrid 107103 12 # CCDS CCDS12609 -. [P13688-1] # CCDS CCDS46089 -. [P13688-8] # CCDS CCDS54272 -. [P13688-11] # CCDS CCDS54273 -. [P13688-6] # CCDS CCDS54274 -. [P13688-5] # DOMAIN CEAM1_HUMAN Ig-like V-type domain mediates trans-homophilic cell adhesion through homodimerization and this active process is regulated by tyrosine kinase, PTPN11 AND PTPN6. Ig-like C2-type and/or cytoplasmic domains mediate cis-dimer/oligomer. {ECO 0000250|UniProtKB P16573}. # DrugBank DB00113 Arcitumomab # Ensembl ENST00000161559 ENSP00000161559; ENSG00000079385. [P13688-1] # Ensembl ENST00000352591 ENSP00000244291; ENSG00000079385. [P13688-6] # Ensembl ENST00000358394 ENSP00000351165; ENSG00000079385. [P13688-5] # Ensembl ENST00000403444 ENSP00000384709; ENSG00000079385. [P13688-8] # Ensembl ENST00000403461 ENSP00000384083; ENSG00000079385. [P13688-11] # Ensembl ENST00000599389 ENSP00000471918; ENSG00000079385. [P13688-9] # ExpressionAtlas P13688 baseline and differential # FUNCTION CEAM1_HUMAN Isoform 1 Cell adhesion protein that mediates homophilic cell adhesion in a calcium-independent manner (By similarity). Plays a role as coinhibitory receptor in immune response, insulin action and functions also as an activator during angiogenesis (PubMed 18424730, PubMed 23696226, PubMed 25363763). Its coinhibitory receptor function is phosphorylation- and PTPN6 -dependent, which in turn, suppress signal transduction of associated receptors by dephosphorylation of their downstream effectors. Plays a role in immune response, of T cells, natural killer (NK) and neutrophils (PubMed 18424730, PubMed 23696226). Upon TCR/CD3 complex stimulation, inhibits TCR-mediated cytotoxicity by blocking granule exocytosis by mediating homophilic binding to adjacent cells, allowing interaction with and phosphorylation by LCK and interaction with the TCR/CD3 complex which recruits PTPN6 resulting in dephosphorylation of CD247 and ZAP70 (PubMed 18424730). Also inhibits T cell proliferation and cytokine production through inhibition of JNK cascade and plays a crucial role in regulating autoimmunity and anti-tumor immunity by inhibiting T cell through its interaction with HAVCR2 (PubMed 25363763). Upon natural killer (NK) cells activation, inhibit KLRK1-mediated cytolysis of CEACAM1-bearing tumor cells by trans-homophilic interactions with CEACAM1 on the target cell and lead to cis-interaction between CEACAM1 and KLRK1, allowing PTPN6 recruitment and then VAV1 dephosphorylation (PubMed 23696226). Upon neutrophils activation negatively regulates IL1B production by recruiting PTPN6 to a SYK-TLR4- CEACAM1 complex, that dephosphorylates SYK, reducing the production of reactive oxygen species (ROS) and lysosome disruption, which in turn, reduces the activity of the inflammasome. Downregulates neutrophil production by acting as a coinhibitory receptor for CSF3R by downregulating the CSF3R-STAT3 pathway through recruitment of PTPN6 that dephosphorylates CSF3R (By similarity). Also regulates insulin action by promoting INS clearance and regulating lipogenesis in liver through regulating insulin signaling (By similarity). Upon INS stimulation, undergoes phosphorylation by INSR leading to INS clearance by increasing receptor-mediated insulin endocytosis. This inernalization promotes interaction with FASN leading to receptor-mediated insulin degradation and to reduction of FASN activity leading to negative regulation of fatty acid synthesis. INSR-mediated phosphorylation also provokes a down-regulation of cell proliferation through SHC1 interaction resulting in decrease coupling of SHC1 to the MAPK3/ERK1-MAPK1/ERK2 and phosphatidylinositol 3-kinase pathways (By similarity). Functions as activator in angiogenesis by promoting blood vessel remodeling through endothelial cell differentiation and migration and in arteriogenesis by increasing the number of collateral arteries and collateral vessel calibers after ischemia. Also regulates vascular permeability through the VEGFR2 signaling pathway resulting in control of nitric oxide production (By similarity). Downregulates cell growth in response to EGF through its interaction with SHC1 that mediates interaction with EGFR resulting in decrease coupling of SHC1 to the MAPK3/ERK1-MAPK1/ERK2 pathway (By similarity). Negatively regulates platelet aggregation by decreasing platelet adhesion on type I collagen through the GPVI-FcRgamma complex (By similarity). Inhibits cell migration and cell scattering through interaction with FLNA; interfers with the interaction of FLNA with RALA (PubMed 16291724). Mediates bile acid transport activity in a phosphorylation dependent manner (By similarity). Negatively regulates osteoclastogenesis (By similarity). {ECO 0000250|UniProtKB P16573, ECO 0000250|UniProtKB P31809, ECO 0000269|PubMed 16291724, ECO 0000269|PubMed 18424730, ECO 0000269|PubMed 23696226, ECO 0000269|PubMed 25363763}. # FUNCTION CEAM1_HUMAN Isoform 8 Cell adhesion protein that mediates homophilic cell adhesion in a calcium-independent manner (By similarity). Promotes populations of T cells regulating IgA production and secretion associated with control of the commensal microbiota and resistance to enteropathogens (By similarity). {ECO 0000250|UniProtKB P16573, ECO 0000250|UniProtKB P31809}. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0005887 integral component of plasma membrane; NAS:UniProtKB. # GO_component GO:0005911 cell-cell junction; IDA:UniProtKB. # GO_component GO:0005912 adherens junction; ISS:UniProtKB. # GO_component GO:0009925 basal plasma membrane; ISS:UniProtKB. # GO_component GO:0009986 cell surface; IDA:UniProtKB. # GO_component GO:0016020 membrane; TAS:ProtInc. # GO_component GO:0016021 integral component of membrane; IDA:MGI. # GO_component GO:0016324 apical plasma membrane; ISS:UniProtKB. # GO_component GO:0016328 lateral plasma membrane; ISS:UniProtKB. # GO_component GO:0030054 cell junction; IDA:UniProtKB. # GO_component GO:0030658 transport vesicle membrane; IEA:UniProtKB-SubCell. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0003779 actin binding; IPI:UniProtKB. # GO_function GO:0015125 bile acid transmembrane transporter activity; ISS:UniProtKB. # GO_function GO:0019900 kinase binding; IPI:UniProtKB. # GO_function GO:0019903 protein phosphatase binding; IPI:UniProtKB. # GO_function GO:0031005 filamin binding; IPI:UniProtKB. # GO_function GO:0042803 protein homodimerization activity; IMP:UniProtKB. # GO_function GO:0046983 protein dimerization activity; ISS:UniProtKB. # GO_function GO:1990782 protein tyrosine kinase binding; IPI:UniProtKB. # GO_process GO:0001525 angiogenesis; NAS:UniProtKB. # GO_process GO:0001558 regulation of cell growth; ISS:UniProtKB. # GO_process GO:0001568 blood vessel development; ISS:UniProtKB. # GO_process GO:0001915 negative regulation of T cell mediated cytotoxicity; IDA:UniProtKB. # GO_process GO:0002859 negative regulation of natural killer cell mediated cytotoxicity directed against tumor cell target; IMP:UniProtKB. # GO_process GO:0006469 negative regulation of protein kinase activity; ISS:UniProtKB. # GO_process GO:0007155 cell adhesion; ISS:UniProtKB. # GO_process GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules; ISS:UniProtKB. # GO_process GO:0007229 integrin-mediated signaling pathway; NAS:UniProtKB. # GO_process GO:0010594 regulation of endothelial cell migration; ISS:UniProtKB. # GO_process GO:0014066 regulation of phosphatidylinositol 3-kinase signaling; ISS:UniProtKB. # GO_process GO:0015721 bile acid and bile salt transport; ISS:UniProtKB. # GO_process GO:0016477 cell migration; NAS:UniProtKB. # GO_process GO:0030334 regulation of cell migration; IDA:UniProtKB. # GO_process GO:0030853 negative regulation of granulocyte differentiation; ISS:UniProtKB. # GO_process GO:0032692 negative regulation of interleukin-1 production; ISS:UniProtKB. # GO_process GO:0032869 cellular response to insulin stimulus; ISS:UniProtKB. # GO_process GO:0035726 common myeloid progenitor cell proliferation; ISS:UniProtKB. # GO_process GO:0038016 insulin receptor internalization; ISS:UniProtKB. # GO_process GO:0038158 granulocyte colony-stimulating factor signaling pathway; ISS:UniProtKB. # GO_process GO:0042058 regulation of epidermal growth factor receptor signaling pathway; ISS:UniProtKB. # GO_process GO:0043116 negative regulation of vascular permeability; ISS:UniProtKB. # GO_process GO:0043318 negative regulation of cytotoxic T cell degranulation; IDA:UniProtKB. # GO_process GO:0044319 wound healing, spreading of cells; IDA:UniProtKB. # GO_process GO:0045601 regulation of endothelial cell differentiation; ISS:UniProtKB. # GO_process GO:0045717 negative regulation of fatty acid biosynthetic process; ISS:UniProtKB. # GO_process GO:0050860 negative regulation of T cell receptor signaling pathway; IDA:UniProtKB. # GO_process GO:0050900 leukocyte migration; TAS:Reactome. # GO_process GO:0051055 negative regulation of lipid biosynthetic process; ISS:UniProtKB. # GO_process GO:0060312 regulation of blood vessel remodeling; ISS:UniProtKB. # GO_process GO:0070372 regulation of ERK1 and ERK2 cascade; ISS:UniProtKB. # GO_process GO:0090331 negative regulation of platelet aggregation; ISS:UniProtKB. # GO_process GO:0098609 cell-cell adhesion; ISS:UniProtKB. # GO_process GO:1901143 insulin catabolic process; ISS:UniProtKB. # GO_process GO:1903385 regulation of homophilic cell adhesion; ISS:UniProtKB. # GO_process GO:1903670 regulation of sprouting angiogenesis; ISS:UniProtKB. # GO_process GO:2000346 negative regulation of hepatocyte proliferation; ISS:UniProtKB. # GO_process GO:2001214 positive regulation of vasculogenesis; ISS:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0008092 cytoskeletal protein binding # GOslim_function GO:0019899 enzyme binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0002376 immune system process # GOslim_process GO:0003013 circulatory system process # GOslim_process GO:0006810 transport # GOslim_process GO:0007155 cell adhesion # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0008283 cell proliferation # GOslim_process GO:0009056 catabolic process # GOslim_process GO:0016192 vesicle-mediated transport # GOslim_process GO:0048646 anatomical structure formation involved in morphogenesis # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0048870 cell motility # Gene3D 2.60.40.10 -; 4. # Genevisible P13688 HS # HGNC HGNC:1814 CEACAM1 # INDUCTION Induced in primary T cells by activation with IL-2. {ECO:0000269|PubMed 18424730}. # INTERACTION CEAM1_HUMAN Q16568 CARTPT; NbExp=3; IntAct=EBI-4314481, EBI-4314526; P40199 CEACAM6; NbExp=2; IntAct=EBI-4314481, EBI-4314501; Q8GH87 uspa1 (xeno); NbExp=12; IntAct=EBI-4314481, EBI-7936357; # IntAct P13688 6 # InterPro IPR003598 Ig_sub2 # InterPro IPR003599 Ig_sub # InterPro IPR007110 Ig-like_dom # InterPro IPR013106 Ig_V-set # InterPro IPR013151 Immunoglobulin # InterPro IPR013783 Ig-like_fold # KEGG_Brite ko04090 Cellular antigens # KEGG_Brite ko04516 Cell adhesion molecules and their ligands # MIM 109770 gene # Organism CEAM1_HUMAN Homo sapiens (Human) # PDB 2GK2 X-ray; 2.20 A; A/B=34-141 # PDB 4QXW X-ray; 2.04 A; A/B=35-141 # PDB 4WHD X-ray; 2.50 A; A/B=34-141 # PDB 5DZL X-ray; 3.40 A; A/B/C/D=35-141 # PIR A32164 A32164 # PIR B48078 B48078 # PIR JH0394 JH0394 # PIR JH0395 JH0395 # PIR JH0396 JH0396 # PROSITE PS50835 IG_LIKE; 3 # PTM CEAM1_HUMAN Isoform 1 Phosphorylated on serine and tyrosine (By similarity). Isoform 1 is phosphorylated on tyrosine by Src family kinases like SRC and LCK and by receptor like CSF3R, EGFR and INSR upon stimulation (PubMed 15467833, PubMed 18424730, PubMed 7478590). Phosphorylated at Ser-508; mediates activity. Phosphorylated at Tyr-493; regulates activity (By similarity). Phosphorylated at Tyr-493 by EGFR and INSR upon stimulation; this phosphorylation is Ser-508-phosphorylation-dependent; mediates cellular internalization; increases interaction with downstream proteins like SHC1 and FASN (By similarity). Phosphorylated at Tyr-493 and Tyr-520 by LCK; mediates PTPN6 association and is regulated by homophilic ligation of CEACAM1 in the absence of T cell activation (PubMed 18424730). Phosphorylated at Tyr-520; mediates interaction with PTPN11 (By similarity). {ECO 0000250|UniProtKB P16573, ECO 0000250|UniProtKB P31809, ECO 0000269|PubMed 15467833, ECO 0000269|PubMed 18424730, ECO 0000269|PubMed 7478590}. # PTM CEAM1_HUMAN Isoform 8 Phosphorylated on serine and threonine. {ECO 0000269|PubMed 14522961}. # Pfam PF00047 ig # Pfam PF07686 V-set # Pfam PF13895 Ig_2 # Proteomes UP000005640 Chromosome 19 # Reactome R-HSA-1566977 Fibronectin matrix formation # Reactome R-HSA-202733 Cell surface interactions at the vascular wall # Reactome R-HSA-6798695 Neutrophil degranulation # RecName Carcinoembryonic antigen-related cell adhesion molecule 1 {ECO 0000303|Ref.8} # RefSeq NP_001020083 NM_001024912.2. [P13688-8] # RefSeq NP_001171742 NM_001184813.1. [P13688-6] # RefSeq NP_001171744 NM_001184815.1. [P13688-5] # RefSeq NP_001171745 NM_001184816.1. [P13688-11] # RefSeq NP_001192273 NM_001205344.1. [P13688-10] # RefSeq NP_001703 NM_001712.4. [P13688-1] # RefSeq XP_011525508 XM_011527206.1. [P13688-4] # SEQUENCE CAUTION Sequence=AAA57141.1; Type=Erroneous gene model prediction; Evidence={ECO 0000305}; # SIMILARITY Belongs to the immunoglobulin superfamily. CEA family. {ECO 0000305}. # SIMILARITY Contains 1 Ig-like V-type (immunoglobulin-like) domain. {ECO 0000305}. # SIMILARITY Contains 3 Ig-like C2-type (immunoglobulin-like) domains. {ECO 0000305}. # SMART SM00408 IGc2; 3 # SMART SM00409 IG; 4 # SUBCELLULAR LOCATION CEAM1_HUMAN Cell projection, microvillus membrane {ECO 0000250|UniProtKB P31809}; Single-pass type I membrane protein {ECO 0000305}. Apical cell membrane {ECO 0000250|UniProtKB P31809}; Single-pass type I membrane protein {ECO 0000305}. Note=Colocalizes with CEACAM20 at the apical brush border of intestinal cells. {ECO 0000250|UniProtKB P31809}. # SUBCELLULAR LOCATION CEAM1_HUMAN Isoform 1 Cell membrane {ECO 0000250|UniProtKB P16573}; Single-pass type I membrane protein {ECO 0000250|UniProtKB P16573}. Lateral cell membrane {ECO 0000250|UniProtKB P16573}. Apical cell membrane {ECO 0000250|UniProtKB P16573}. Basal cell membrane {ECO 0000250|UniProtKB P16573}. Cell junction {ECO 0000269|PubMed 16291724}. Cell junction, adherens junction {ECO 0000250|UniProtKB P16573}. Note=Canalicular domain of hepatocyte plasma membranes. Found as a mixture of monomer, dimer and oligomer in the plasma membrane. Occurs predominantly as cis- dimers and/or small cis-oligomers in the cell junction regions. Found as dimer in the solution. Predominantly localized to the lateral cell membranes. {ECO 0000250|UniProtKB P16573}. # SUBCELLULAR LOCATION CEAM1_HUMAN Isoform 2 Secreted {ECO 0000269|PubMed 2025273}. # SUBCELLULAR LOCATION CEAM1_HUMAN Isoform 3 Secreted {ECO 0000269|PubMed 2025273}. # SUBCELLULAR LOCATION CEAM1_HUMAN Isoform 4 Secreted {ECO 0000269|PubMed 2025273}. # SUBCELLULAR LOCATION CEAM1_HUMAN Isoform 5 Cell membrane; Single-pass type I membrane protein. # SUBCELLULAR LOCATION CEAM1_HUMAN Isoform 6 Cell membrane; Single-pass type I membrane protein. # SUBCELLULAR LOCATION CEAM1_HUMAN Isoform 7 Cell membrane; Single-pass type I membrane protein. # SUBCELLULAR LOCATION CEAM1_HUMAN Isoform 8 Cell membrane {ECO 0000269|PubMed 14522961}; Single-pass type I membrane protein {ECO 0000250|UniProtKB P16573}. Cytoplasmic vesicle, secretory vesicle membrane {ECO 0000269|PubMed 14522961}. Lateral cell membrane {ECO 0000250|UniProtKB P16573}. Apical cell membrane {ECO 0000250|UniProtKB P16573}. Basal cell membrane {ECO 0000250|UniProtKB P16573}. Cell junction {ECO 0000269|PubMed 8018919}. Cell junction, adherens junction {ECO 0000250|UniProtKB P16573}. Note=Predominantly localized to the lateral cell membranes. Found as a mixture of monomer, dimer and oligomer in the plasma membrane. Occurs predominantly as cis- dimers and/or small cis-oligomers in the cell junction regions (By similarity). Co-localizes with ANXA2 in secretory vesicles and with S100A10/p11 at the plasma membrane (PubMed 14522961). {ECO 0000250|UniProtKB P16573, ECO 0000269|PubMed 14522961}. # SUBUNIT CEAM1_HUMAN Monomer. Oligomer. Heterodimer. Homodimer. Cis- dimer/oligomer (via Ig-like C2-type and/or via cytoplasmic domains); induced by trans-homophilic cell adhesion through an allosteric mechanism transmitted by the Ig-like V-type domain, and is regulated by intracellular calcium and calmodulin. Interacts (via cytoplasmic domain) with calmodulin in a calcium dependent manner; reduces homophilic cell adhesion through dissociation of dimer (By similarity). Isoform 1 interacts (via cytoplasmic domain) with PTPN11 (preferentially) and PTPN6; cis-homodimer form is preferred; this interaction is decreased by formation of Isoform 1 /Isoform 8 cis-heterodimers and is dependent on the monomer/dimer equilibrium; this interaction is phosphorylation- dependent (PubMed 23696226). Isoform 1 interacts with LYN (By similarity). Isoform 1 interacts (via cytoplasmic domain) with SRC (via SH2 domain); this interaction is regulated by trans- homophilic cell adhesion (PubMed 7478590). Isoform 1 interacts (via cytoplasmic domain) with LCK; mediates phosphorylation at Tyr-493 and Tyr-520 resulting in PTPN6 association. Isoform 1 interacts with PTPN6; this interaction is phosphorylation- dependent and causes a profound decrease in TCR stimulation- induced CD247 and ZAP70 phosphorylation. Isoform 1 interacts with TCR/CD3 complex through TCR beta chain and CD3E; colocalizes at the cell surface and upon stimulation of the TCR/CD3 complex recuits PTPN6 in the TCR/CD3 complex, resulting in dephosphorylation of CD247 and ZAP70 (PubMed 18424730). Isoform 1 interacts (via cytoplasmic domain) with SHC1 (via SH2 domain); SHC1 mediates interaction with INSR or EGFR in a Ser-508 phosphorylation-dependent manner (By similarity). Isoform 1 interacts with EGFR; the interaction is indirect (PubMed 15467833). Isoform 1 interacts with CSF3R; down-regulates the CSF3R-STAT3 pathway through recruitment of PTPN6 that dephosphorylates CSF3R (By similarity). Isoform 1 (phosphorylated form) interacts with TLR4 and SYK; recruits PTPN6 that dephosphorylates SYK, reducing the production of reactive oxygen species (ROS) and lysosome disruption, leading to a reduction of the inflammasome activity (By similarity). Isoform 1 interacts with FLNA; inhibits cell migration and cell scattering by interfering with the interaction of FLNA with RALA (PubMed 16291724). Isoform 1 interacts (via cytoplasmic domain) with PXN; the interaction is phosphotyrosyl-dependent (PubMed 11035932). Isoform 1 interacts with KLRK1; recruits PTPN6 that dephosphorylates VAV1 (PubMed 23696226). Isoform 1 interacts with CEACAM8 (PubMed 11994468). Isoform 1 interacts with FASN; this interaction is insulin and phosphorylation-dependent; reduces fatty-acid synthase activity (By similarity). Interacts (via Ig- like V-type) with HAVCR2 (via Ig-like V-type); facilitates the maturation and cell surface expression of HAVCR2 thereby regulating T cell tolerance induction (PubMed 25363763). Isoform 8 interacts (via the cytoplasmic domain) with ANXA2; this interaction is regulated by phosphorylation and appears in the AIIt complex (PubMed 14522961). Interacts (via Lewis X moieties) with CD209 (via C-type lectin domain); this interaction is regulated by the glycosylation pattern of CEACAM1 on cell types and regulates contact between dendritic cells and neutrophils (PubMed 16246332). {ECO 0000250|UniProtKB P16573, ECO 0000250|UniProtKB P31809, ECO 0000269|PubMed 11035932, ECO 0000269|PubMed 11994468, ECO 0000269|PubMed 14522961, ECO 0000269|PubMed 15467833, ECO 0000269|PubMed 16246332, ECO 0000269|PubMed 16291724, ECO 0000269|PubMed 18424730, ECO 0000269|PubMed 23696226, ECO 0000269|PubMed 25363763, ECO 0000269|PubMed 7478590}. # SUPFAM SSF48726 SSF48726; 4 # TISSUE SPECIFICITY CEAM1_HUMAN The predominant forms expressed by T cells are those containing a long cytoplasmic domain (PubMed 18424730). Expressed in granulocytes and lymphocytes. Leukocytes only express isoforms 6 and isoform 1 (PubMed 11994468). {ECO 0000269|PubMed 11994468, ECO 0000269|PubMed 18424730}. # TopDownProteomics P13688-2 -. [P13688-2] # UCSC uc002otv human. [P13688-1] # WEB RESOURCE CEAM1_HUMAN Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http //atlasgeneticsoncology.org/Genes/CEACAM1ID40044ch19q13.html"; # WEB RESOURCE CEAM1_HUMAN Name=SeattleSNPs; URL="http //pga.gs.washington.edu/data/ceacam1/"; # eggNOG ENOG410IFE1 Eukaryota # eggNOG ENOG410YR1P LUCA BLAST swissprot:CEAM1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CEAM1_HUMAN BioCyc ZFISH:ENSG00000079385-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000079385-MONOMER COXPRESdb 634 http://coxpresdb.jp/data/gene/634.shtml CleanEx HS_CEACAM1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CEACAM1 DIP DIP-42683N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-42683N DOI 10.1002/eji.201242676 http://dx.doi.org/10.1002/eji.201242676 DOI 10.1006/excr.1999.4610 http://dx.doi.org/10.1006/excr.1999.4610 DOI 10.1006/excr.2000.5026 http://dx.doi.org/10.1006/excr.2000.5026 DOI 10.1016/S0006-291X(05)80223-2 http://dx.doi.org/10.1016/S0006-291X(05)80223-2 DOI 10.1016/j.febslet.2005.09.089 http://dx.doi.org/10.1016/j.febslet.2005.09.089 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/pr0502065 http://dx.doi.org/10.1021/pr0502065 DOI 10.1021/pr8008012 http://dx.doi.org/10.1021/pr8008012 DOI 10.1038/nature02399 http://dx.doi.org/10.1038/nature02399 DOI 10.1038/nature13848 http://dx.doi.org/10.1038/nature13848 DOI 10.1073/pnas.85.18.6959 http://dx.doi.org/10.1073/pnas.85.18.6959 DOI 10.1074/jbc.M309115200 http://dx.doi.org/10.1074/jbc.M309115200 DOI 10.1083/jcb.108.2.267 http://dx.doi.org/10.1083/jcb.108.2.267 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1107/S0907444906020737 http://dx.doi.org/10.1107/S0907444906020737 DOI 10.1111/j.1432-1033.1994.tb19022.x http://dx.doi.org/10.1111/j.1432-1033.1994.tb19022.x DOI 10.1111/j.1432-1033.1995.tb20676.x http://dx.doi.org/10.1111/j.1432-1033.1995.tb20676.x DOI 10.1128/MCB.13.2.1273 http://dx.doi.org/10.1128/MCB.13.2.1273 DOI 10.1172/JCI200421786 http://dx.doi.org/10.1172/JCI200421786 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DOI 10.1242/jcs.02660 http://dx.doi.org/10.1242/jcs.02660 DOI 10.4049/jimmunol.168.10.5139 http://dx.doi.org/10.4049/jimmunol.168.10.5139 DOI 10.4049/jimmunol.180.9.6085 http://dx.doi.org/10.4049/jimmunol.180.9.6085 DrugBank DB00113 http://www.drugbank.ca/drugs/DB00113 EMBL AC004785 http://www.ebi.ac.uk/ena/data/view/AC004785 EMBL AC004785 http://www.ebi.ac.uk/ena/data/view/AC004785 EMBL AC004785 http://www.ebi.ac.uk/ena/data/view/AC004785 EMBL AC004785 http://www.ebi.ac.uk/ena/data/view/AC004785 EMBL AC004785 http://www.ebi.ac.uk/ena/data/view/AC004785 EMBL AC004785 http://www.ebi.ac.uk/ena/data/view/AC004785 EMBL AC004785 http://www.ebi.ac.uk/ena/data/view/AC004785 EMBL AY766113 http://www.ebi.ac.uk/ena/data/view/AY766113 EMBL BC014473 http://www.ebi.ac.uk/ena/data/view/BC014473 EMBL CH471126 http://www.ebi.ac.uk/ena/data/view/CH471126 EMBL CH471126 http://www.ebi.ac.uk/ena/data/view/CH471126 EMBL CH471126 http://www.ebi.ac.uk/ena/data/view/CH471126 EMBL CH471126 http://www.ebi.ac.uk/ena/data/view/CH471126 EMBL D12502 http://www.ebi.ac.uk/ena/data/view/D12502 EMBL D90311 http://www.ebi.ac.uk/ena/data/view/D90311 EMBL D90312 http://www.ebi.ac.uk/ena/data/view/D90312 EMBL D90313 http://www.ebi.ac.uk/ena/data/view/D90313 EMBL DQ989182 http://www.ebi.ac.uk/ena/data/view/DQ989182 EMBL J03858 http://www.ebi.ac.uk/ena/data/view/J03858 EMBL M69176 http://www.ebi.ac.uk/ena/data/view/M69176 EMBL M72238 http://www.ebi.ac.uk/ena/data/view/M72238 EMBL M72238 http://www.ebi.ac.uk/ena/data/view/M72238 EMBL M76741 http://www.ebi.ac.uk/ena/data/view/M76741 EMBL M76742 http://www.ebi.ac.uk/ena/data/view/M76742 EMBL M76743 http://www.ebi.ac.uk/ena/data/view/M76743 EMBL M76744 http://www.ebi.ac.uk/ena/data/view/M76744 EMBL S71326 http://www.ebi.ac.uk/ena/data/view/S71326 EMBL X14831 http://www.ebi.ac.uk/ena/data/view/X14831 EMBL X16354 http://www.ebi.ac.uk/ena/data/view/X16354 EMBL X16356 http://www.ebi.ac.uk/ena/data/view/X16356 EMBL X67277 http://www.ebi.ac.uk/ena/data/view/X67277 Ensembl ENST00000161559 http://www.ensembl.org/id/ENST00000161559 Ensembl ENST00000352591 http://www.ensembl.org/id/ENST00000352591 Ensembl ENST00000358394 http://www.ensembl.org/id/ENST00000358394 Ensembl ENST00000403444 http://www.ensembl.org/id/ENST00000403444 Ensembl ENST00000403461 http://www.ensembl.org/id/ENST00000403461 Ensembl ENST00000599389 http://www.ensembl.org/id/ENST00000599389 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0005911 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005911 GO_component GO:0005912 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005912 GO_component GO:0009925 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009925 GO_component GO:0009986 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009986 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:0016328 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016328 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0030658 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030658 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0003779 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003779 GO_function GO:0015125 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015125 GO_function GO:0019900 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019900 GO_function GO:0019903 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019903 GO_function GO:0031005 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031005 GO_function GO:0042803 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042803 GO_function GO:0046983 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046983 GO_function GO:1990782 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1990782 GO_process GO:0001525 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001525 GO_process GO:0001558 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001558 GO_process GO:0001568 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001568 GO_process GO:0001915 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001915 GO_process GO:0002859 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002859 GO_process GO:0006469 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006469 GO_process GO:0007155 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007155 GO_process GO:0007156 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007156 GO_process GO:0007229 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007229 GO_process GO:0010594 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010594 GO_process GO:0014066 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014066 GO_process GO:0015721 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015721 GO_process GO:0016477 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016477 GO_process GO:0030334 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030334 GO_process GO:0030853 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030853 GO_process GO:0032692 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032692 GO_process GO:0032869 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032869 GO_process GO:0035726 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035726 GO_process GO:0038016 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0038016 GO_process GO:0038158 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0038158 GO_process GO:0042058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042058 GO_process GO:0043116 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043116 GO_process GO:0043318 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043318 GO_process GO:0044319 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044319 GO_process GO:0045601 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045601 GO_process GO:0045717 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045717 GO_process GO:0050860 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050860 GO_process GO:0050900 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050900 GO_process GO:0051055 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051055 GO_process GO:0060312 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060312 GO_process GO:0070372 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070372 GO_process GO:0090331 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090331 GO_process GO:0098609 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0098609 GO_process GO:1901143 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1901143 GO_process GO:1903385 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903385 GO_process GO:1903670 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903670 GO_process GO:2000346 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000346 GO_process GO:2001214 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2001214 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0008092 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008092 GOslim_function GO:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0002376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002376 GOslim_process GO:0003013 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003013 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007155 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007155 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0008283 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008283 GOslim_process GO:0009056 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009056 GOslim_process GO:0016192 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016192 GOslim_process GO:0048646 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048646 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0048870 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048870 Gene3D 2.60.40.10 http://www.cathdb.info/version/latest/superfamily/2.60.40.10 GeneCards CEACAM1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CEACAM1 GeneID 634 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=634 GeneTree ENSGT00760000119187 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119187 H-InvDB HIX0017795 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0017795 HGNC HGNC:1814 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:1814 HOVERGEN HBG007922 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG007922&db=HOVERGEN HPA CAB002146 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB002146 HPA HPA011041 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA011041 InParanoid P13688 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P13688 IntAct P13688 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P13688* InterPro IPR003598 http://www.ebi.ac.uk/interpro/entry/IPR003598 InterPro IPR003599 http://www.ebi.ac.uk/interpro/entry/IPR003599 InterPro IPR007110 http://www.ebi.ac.uk/interpro/entry/IPR007110 InterPro IPR013106 http://www.ebi.ac.uk/interpro/entry/IPR013106 InterPro IPR013151 http://www.ebi.ac.uk/interpro/entry/IPR013151 InterPro IPR013783 http://www.ebi.ac.uk/interpro/entry/IPR013783 Jabion 634 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=634 KEGG_Brite ko04090 http://www.genome.jp/dbget-bin/www_bget?ko04090 KEGG_Brite ko04516 http://www.genome.jp/dbget-bin/www_bget?ko04516 KEGG_Gene hsa:634 http://www.genome.jp/dbget-bin/www_bget?hsa:634 KEGG_Orthology KO:K06499 http://www.genome.jp/dbget-bin/www_bget?KO:K06499 MIM 109770 http://www.ncbi.nlm.nih.gov/omim/109770 MINT MINT-5002435 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-5002435 OMA NDPPNKM http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=NDPPNKM OrthoDB EOG091G0AMM http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0AMM PDB 2GK2 http://www.ebi.ac.uk/pdbe-srv/view/entry/2GK2 PDB 4QXW http://www.ebi.ac.uk/pdbe-srv/view/entry/4QXW PDB 4WHD http://www.ebi.ac.uk/pdbe-srv/view/entry/4WHD PDB 5DZL http://www.ebi.ac.uk/pdbe-srv/view/entry/5DZL PDBsum 2GK2 http://www.ebi.ac.uk/pdbsum/2GK2 PDBsum 4QXW http://www.ebi.ac.uk/pdbsum/4QXW PDBsum 4WHD http://www.ebi.ac.uk/pdbsum/4WHD PDBsum 5DZL http://www.ebi.ac.uk/pdbsum/5DZL PROSITE PS50835 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50835 PSORT swissprot:CEAM1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CEAM1_HUMAN PSORT-B swissprot:CEAM1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CEAM1_HUMAN PSORT2 swissprot:CEAM1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CEAM1_HUMAN Pfam PF00047 http://pfam.xfam.org/family/PF00047 Pfam PF07686 http://pfam.xfam.org/family/PF07686 Pfam PF13895 http://pfam.xfam.org/family/PF13895 PharmGKB PA26358 http://www.pharmgkb.org/do/serve?objId=PA26358&objCls=Gene Phobius swissprot:CEAM1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CEAM1_HUMAN PhylomeDB P13688 http://phylomedb.org/?seqid=P13688 ProteinModelPortal P13688 http://www.proteinmodelportal.org/query/uniprot/P13688 PubMed 11035932 http://www.ncbi.nlm.nih.gov/pubmed/11035932 PubMed 11501563 http://www.ncbi.nlm.nih.gov/pubmed/11501563 PubMed 11994468 http://www.ncbi.nlm.nih.gov/pubmed/11994468 PubMed 14522961 http://www.ncbi.nlm.nih.gov/pubmed/14522961 PubMed 15057824 http://www.ncbi.nlm.nih.gov/pubmed/15057824 PubMed 15467833 http://www.ncbi.nlm.nih.gov/pubmed/15467833 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16246332 http://www.ncbi.nlm.nih.gov/pubmed/16246332 PubMed 16291724 http://www.ncbi.nlm.nih.gov/pubmed/16291724 PubMed 16335952 http://www.ncbi.nlm.nih.gov/pubmed/16335952 PubMed 16929097 http://www.ncbi.nlm.nih.gov/pubmed/16929097 PubMed 18424730 http://www.ncbi.nlm.nih.gov/pubmed/18424730 PubMed 19159218 http://www.ncbi.nlm.nih.gov/pubmed/19159218 PubMed 2025273 http://www.ncbi.nlm.nih.gov/pubmed/2025273 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 23696226 http://www.ncbi.nlm.nih.gov/pubmed/23696226 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 2457922 http://www.ncbi.nlm.nih.gov/pubmed/2457922 PubMed 25363763 http://www.ncbi.nlm.nih.gov/pubmed/25363763 PubMed 2537311 http://www.ncbi.nlm.nih.gov/pubmed/2537311 PubMed 7478590 http://www.ncbi.nlm.nih.gov/pubmed/7478590 PubMed 7628460 http://www.ncbi.nlm.nih.gov/pubmed/7628460 PubMed 8018919 http://www.ncbi.nlm.nih.gov/pubmed/8018919 PubMed 8055923 http://www.ncbi.nlm.nih.gov/pubmed/8055923 PubMed 8423792 http://www.ncbi.nlm.nih.gov/pubmed/8423792 Reactome R-HSA-1566977 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1566977 Reactome R-HSA-202733 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-202733 Reactome R-HSA-6798695 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6798695 RefSeq NP_001020083 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001020083 RefSeq NP_001171742 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001171742 RefSeq NP_001171744 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001171744 RefSeq NP_001171745 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001171745 RefSeq NP_001192273 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001192273 RefSeq NP_001703 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001703 RefSeq XP_011525508 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011525508 SMART SM00408 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00408 SMART SM00409 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00409 SMR P13688 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P13688 STRING 9606.ENSP00000161559 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000161559&targetmode=cogs SUPFAM SSF48726 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48726 UCSC uc002otv http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002otv&org=rat UniGene Hs.512682 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.512682 UniProtKB CEAM1_HUMAN http://www.uniprot.org/uniprot/CEAM1_HUMAN UniProtKB-AC P13688 http://www.uniprot.org/uniprot/P13688 charge swissprot:CEAM1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CEAM1_HUMAN eggNOG ENOG410IFE1 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IFE1 eggNOG ENOG410YR1P http://eggnogapi.embl.de/nog_data/html/tree/ENOG410YR1P epestfind swissprot:CEAM1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CEAM1_HUMAN garnier swissprot:CEAM1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CEAM1_HUMAN helixturnhelix swissprot:CEAM1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CEAM1_HUMAN hmoment swissprot:CEAM1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CEAM1_HUMAN iep swissprot:CEAM1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CEAM1_HUMAN inforesidue swissprot:CEAM1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CEAM1_HUMAN neXtProt NX_P13688 http://www.nextprot.org/db/entry/NX_P13688 octanol swissprot:CEAM1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CEAM1_HUMAN pepcoil swissprot:CEAM1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CEAM1_HUMAN pepdigest swissprot:CEAM1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CEAM1_HUMAN pepinfo swissprot:CEAM1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CEAM1_HUMAN pepnet swissprot:CEAM1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CEAM1_HUMAN pepstats swissprot:CEAM1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CEAM1_HUMAN pepwheel swissprot:CEAM1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CEAM1_HUMAN pepwindow swissprot:CEAM1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CEAM1_HUMAN sigcleave swissprot:CEAM1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CEAM1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S22AG_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q86VW1-1; Sequence=Displayed; Name=2; IsoId=Q86VW1-2; Sequence=VSP_031336, VSP_031337; Name=3; IsoId=Q86VW1-3; Sequence=VSP_031338; # AltName S22AG_HUMAN Carnitine transporter 2 # AltName S22AG_HUMAN Fly-like putative transporter 2 # AltName S22AG_HUMAN Organic cation transporter OKB1 # AltName S22AG_HUMAN Organic cation/carnitine transporter 6 # BioGrid 124519 29 # CCDS CCDS5084 -. [Q86VW1-1] # CDD cd06174 MFS # ChiTaRS SLC22A16 human # DrugBank DB00583 L-Carnitine # DrugBank DB00997 Doxorubicin # Ensembl ENST00000330550 ENSP00000328583; ENSG00000004809. [Q86VW1-2] # Ensembl ENST00000368919 ENSP00000357915; ENSG00000004809. [Q86VW1-1] # ExpressionAtlas Q86VW1 baseline and differential # FUNCTION S22AG_HUMAN High affinity carnitine transporter; the uptake is partially sodium-ion dependent. Thought to mediate the L-carnitine secretion mechanism from testis epididymal epithelium into the lumen which is involved in the maturation of spermatozoa. Also transports organic cations such as tetraethylammonium (TEA) and doxorubicin. The uptake of TEA is inhibited by various organic cations. The uptake of doxorubicin is sodium-independent. {ECO 0000269|PubMed 12089149, ECO 0000269|PubMed 15963465}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0016021 integral component of membrane; IDA:UniProtKB. # GO_function GO:0005275 amine transmembrane transporter activity; IDA:MGI. # GO_function GO:0015101 organic cation transmembrane transporter activity; IDA:MGI. # GO_function GO:0015226 carnitine transmembrane transporter activity; IDA:UniProtKB. # GO_process GO:0007275 multicellular organism development; IEA:UniProtKB-KW. # GO_process GO:0007283 spermatogenesis; IEA:UniProtKB-KW. # GO_process GO:0007338 single fertilization; IMP:UniProtKB. # GO_process GO:0015695 organic cation transport; IDA:UniProtKB. # GO_process GO:0015879 carnitine transport; IDA:UniProtKB. # GO_process GO:0030154 cell differentiation; IEA:UniProtKB-KW. # GO_process GO:0030317 flagellated sperm motility; IMP:UniProtKB. # GO_process GO:0046717 acid secretion; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0030154 cell differentiation # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0048870 cell motility # Genevisible Q86VW1 HS # HGNC HGNC:20302 SLC22A16 # InterPro IPR005828 MFS_sugar_transport-like # InterPro IPR020846 MFS_dom # KEGG_Brite ko02000 Transporters # KEGG_Brite ko02001 Solute carrier family # MIM 608276 gene # Organism S22AG_HUMAN Homo sapiens (Human) # PROSITE PS50850 MFS # Pfam PF00083 Sugar_tr # Proteomes UP000005640 Chromosome 6 # Reactome R-HSA-549127 Organic cation transport # RecName S22AG_HUMAN Solute carrier family 22 member 16 # RefSeq NP_149116 NM_033125.3. [Q86VW1-1] # RefSeq XP_011534507 XM_011536205.2. [Q86VW1-3] # SEQUENCE CAUTION Sequence=BAB71419.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family. {ECO 0000305}. # SUBCELLULAR LOCATION S22AG_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. Cell membrane {ECO 0000269|PubMed 12089149}. Note=Detected in the plasma membrane of Sertoli cells and in the luminal membrane of epithelial cells in the epididymis. # SUPFAM SSF103473 SSF103473 # TCDB 2.A.1.19.12 the major facilitator superfamily (mfs) # TISSUE SPECIFICITY S22AG_HUMAN Widely expressed at low levels in adult tissues and fetal brain, lung, liver and kidney. Expressed in testis and epididymis (at protein level). Expressed at lower levels in bone marrow and fetal liver. Expressed in hematopoietic cells, including CD34(+) leukocytes and leukemia cells. Abundantly expressed in ovarian cancer clear-cell adenocarcinoma. Expressed in endometrium (at protein level); highly expressed during the normal secretory phase, but expression is significantly reduced in the proliferative phase. {ECO 0000269|PubMed 12089149, ECO 0000269|PubMed 12372408, ECO 0000269|PubMed 12384147, ECO 0000269|PubMed 15963465, ECO 0000269|PubMed 17197897, ECO 0000269|PubMed 17581421}. # UCSC uc003puf human. [Q86VW1-1] # eggNOG ENOG410IRIC Eukaryota # eggNOG ENOG410YUFN LUCA BLAST swissprot:S22AG_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S22AG_HUMAN COXPRESdb 85413 http://coxpresdb.jp/data/gene/85413.shtml CleanEx HS_SLC22A16 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC22A16 DOI 10.1016/S0006-291X(02)02343-4 http://dx.doi.org/10.1016/S0006-291X(02)02343-4 DOI 10.1016/S0301-472X(02)00901-3 http://dx.doi.org/10.1016/S0301-472X(02)00901-3 DOI 10.1016/j.bbrc.2005.05.174 http://dx.doi.org/10.1016/j.bbrc.2005.05.174 DOI 10.1038/nature02055 http://dx.doi.org/10.1038/nature02055 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.M203883200 http://dx.doi.org/10.1074/jbc.M203883200 DOI 10.1097/01.pgp.0000225845.67245.b3 http://dx.doi.org/10.1097/01.pgp.0000225845.67245.b3 DOI 10.1097/01.pgp.0000236951.33914.1b http://dx.doi.org/10.1097/01.pgp.0000236951.33914.1b DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DrugBank DB00583 http://www.drugbank.ca/drugs/DB00583 DrugBank DB00997 http://www.drugbank.ca/drugs/DB00997 EMBL AB055798 http://www.ebi.ac.uk/ena/data/view/AB055798 EMBL AC002464 http://www.ebi.ac.uk/ena/data/view/AC002464 EMBL AC002464 http://www.ebi.ac.uk/ena/data/view/AC002464 EMBL AC002464 http://www.ebi.ac.uk/ena/data/view/AC002464 EMBL AF268892 http://www.ebi.ac.uk/ena/data/view/AF268892 EMBL AK057306 http://www.ebi.ac.uk/ena/data/view/AK057306 EMBL AL050350 http://www.ebi.ac.uk/ena/data/view/AL050350 EMBL AL050350 http://www.ebi.ac.uk/ena/data/view/AL050350 EMBL AY145502 http://www.ebi.ac.uk/ena/data/view/AY145502 EMBL BC047565 http://www.ebi.ac.uk/ena/data/view/BC047565 EMBL CH471051 http://www.ebi.ac.uk/ena/data/view/CH471051 Ensembl ENST00000330550 http://www.ensembl.org/id/ENST00000330550 Ensembl ENST00000368919 http://www.ensembl.org/id/ENST00000368919 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005275 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005275 GO_function GO:0015101 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015101 GO_function GO:0015226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015226 GO_process GO:0007275 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007275 GO_process GO:0007283 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007283 GO_process GO:0007338 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007338 GO_process GO:0015695 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015695 GO_process GO:0015879 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015879 GO_process GO:0030154 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030154 GO_process GO:0030317 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030317 GO_process GO:0046717 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046717 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0030154 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030154 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0048870 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048870 GeneCards SLC22A16 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC22A16 GeneID 85413 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=85413 GeneTree ENSGT00760000118852 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118852 HGNC HGNC:20302 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:20302 HOVERGEN HBG108436 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG108436&db=HOVERGEN HPA HPA036902 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA036902 InParanoid Q86VW1 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q86VW1 InterPro IPR005828 http://www.ebi.ac.uk/interpro/entry/IPR005828 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 85413 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=85413 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:85413 http://www.genome.jp/dbget-bin/www_bget?hsa:85413 KEGG_Orthology KO:K08212 http://www.genome.jp/dbget-bin/www_bget?KO:K08212 MIM 608276 http://www.ncbi.nlm.nih.gov/omim/608276 OMA SKKEFPC http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=SKKEFPC OrthoDB EOG091G03V1 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G03V1 PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PSORT swissprot:S22AG_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S22AG_HUMAN PSORT-B swissprot:S22AG_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S22AG_HUMAN PSORT2 swissprot:S22AG_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S22AG_HUMAN Pfam PF00083 http://pfam.xfam.org/family/PF00083 PharmGKB PA134911502 http://www.pharmgkb.org/do/serve?objId=PA134911502&objCls=Gene Phobius swissprot:S22AG_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S22AG_HUMAN PhylomeDB Q86VW1 http://phylomedb.org/?seqid=Q86VW1 ProteinModelPortal Q86VW1 http://www.proteinmodelportal.org/query/uniprot/Q86VW1 PubMed 12089149 http://www.ncbi.nlm.nih.gov/pubmed/12089149 PubMed 12372408 http://www.ncbi.nlm.nih.gov/pubmed/12372408 PubMed 12384147 http://www.ncbi.nlm.nih.gov/pubmed/12384147 PubMed 14574404 http://www.ncbi.nlm.nih.gov/pubmed/14574404 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15963465 http://www.ncbi.nlm.nih.gov/pubmed/15963465 PubMed 17197897 http://www.ncbi.nlm.nih.gov/pubmed/17197897 PubMed 17581421 http://www.ncbi.nlm.nih.gov/pubmed/17581421 Reactome R-HSA-549127 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-549127 RefSeq NP_149116 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_149116 RefSeq XP_011534507 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011534507 STRING 9606.ENSP00000357915 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000357915&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.1.19.12 http://www.tcdb.org/search/result.php?tc=2.A.1.19.12 UCSC uc003puf http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003puf&org=rat UniGene Hs.520319 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.520319 UniProtKB S22AG_HUMAN http://www.uniprot.org/uniprot/S22AG_HUMAN UniProtKB-AC Q86VW1 http://www.uniprot.org/uniprot/Q86VW1 charge swissprot:S22AG_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S22AG_HUMAN eggNOG ENOG410IRIC http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IRIC eggNOG ENOG410YUFN http://eggnogapi.embl.de/nog_data/html/tree/ENOG410YUFN epestfind swissprot:S22AG_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S22AG_HUMAN garnier swissprot:S22AG_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S22AG_HUMAN helixturnhelix swissprot:S22AG_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S22AG_HUMAN hmoment swissprot:S22AG_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S22AG_HUMAN iep swissprot:S22AG_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S22AG_HUMAN inforesidue swissprot:S22AG_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S22AG_HUMAN neXtProt NX_Q86VW1 http://www.nextprot.org/db/entry/NX_Q86VW1 octanol swissprot:S22AG_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S22AG_HUMAN pepcoil swissprot:S22AG_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S22AG_HUMAN pepdigest swissprot:S22AG_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S22AG_HUMAN pepinfo swissprot:S22AG_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S22AG_HUMAN pepnet swissprot:S22AG_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S22AG_HUMAN pepstats swissprot:S22AG_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S22AG_HUMAN pepwheel swissprot:S22AG_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S22AG_HUMAN pepwindow swissprot:S22AG_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S22AG_HUMAN sigcleave swissprot:S22AG_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S22AG_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S12A7_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9Y666-1; Sequence=Displayed; Name=2; IsoId=Q9Y666-2; Sequence=VSP_006119, VSP_006120; Note=No experimental confirmation available.; # AltName S12A7_HUMAN Electroneutral potassium-chloride cotransporter 4 # AltName S12A7_HUMAN K-Cl cotransporter 4 # BioGrid 115947 15 # CCDS CCDS34129 -. [Q9Y666-1] # ChiTaRS SLC12A7 human # DrugBank DB00761 Potassium Chloride # ENZYME REGULATION Activated by N-ethylmaleimide (NEM). Inhibited by furosemide, DIDS and bumetanide. The inhibition is much stronger in the presence of 50 mM K(+) in the uptake medium. Inhibited by DIOA. Inhibited by WNK3. {ECO:0000269|PubMed 21613606}. # Ensembl ENST00000264930 ENSP00000264930; ENSG00000113504. [Q9Y666-1] # ExpressionAtlas Q9Y666 baseline and differential # FUNCTION S12A7_HUMAN Mediates electroneutral potassium-chloride cotransport when activated by cell swelling. May mediate K(+) uptake into Deiters' cells in the cochlea and contribute to K(+) recycling in the inner ear. Important for the survival of cochlear outer and inner hair cells and the maintenance of the organ of Corti. May be required for basolateral Cl(-) extrusion in the kidney and contribute to renal acidification (By similarity). {ECO 0000250, ECO 0000269|PubMed 10913127}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_function GO:0019901 protein kinase binding; IPI:ParkinsonsUK-UCL. # GO_function GO:0022820 potassium ion symporter activity; IBA:GO_Central. # GO_function S12A7_HUMAN GO 0015379 potassium chloride symporter activity; TAS Reactome. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0006811 ion transport; TAS:Reactome. # GO_process GO:0006884 cell volume homeostasis; IEA:InterPro. # GO_process GO:0007268 chemical synaptic transmission; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0019899 enzyme binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0042592 homeostatic process # Genevisible Q9Y666 HS # HGNC HGNC:10915 SLC12A7 # InterPro IPR000076 KCL_cotranspt # InterPro IPR004841 AA-permease/SLC12A_dom # InterPro IPR004842 SLC12A_fam # InterPro IPR018491 SLC12_C # InterPro IPR030354 KCC4 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02001 Solute carrier family # KEGG_Pathway ko04966 Collecting duct acid secretion # MIM 604879 gene # Organism S12A7_HUMAN Homo sapiens (Human) # PANTHER PTHR11827:SF47 PTHR11827:SF47; 4 # PIR T17231 T17231 # PRINTS PR01081 KCLTRNSPORT # Pfam PF00324 AA_permease; 2 # Pfam PF03522 SLC12; 2 # Proteomes UP000005640 Chromosome 5 # Reactome R-HSA-426117 Cation-coupled Chloride cotransporters # RecName S12A7_HUMAN Solute carrier family 12 member 7 # RefSeq NP_006589 NM_006598.2. [Q9Y666-1] # SIMILARITY Belongs to the SLC12A transporter family. {ECO 0000305}. # SUBCELLULAR LOCATION S12A7_HUMAN Cell membrane; Multi-pass membrane protein. # SUBUNIT Homomultimer and heteromultimer with other K-Cl cotransporters. {ECO 0000250}. # TCDB 2.A.30.5 the cation-chloride cotransporter (ccc) family # TIGRFAMs TIGR00930 2a30 # TISSUE SPECIFICITY S12A7_HUMAN Detected in muscle, brain, lung, heart and kidney. # UCSC uc003jbu human. [Q9Y666-1] # eggNOG COG0531 LUCA # eggNOG KOG2082 Eukaryota BLAST swissprot:S12A7_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S12A7_HUMAN BioCyc ZFISH:ENSG00000113504-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000113504-MONOMER COXPRESdb 10723 http://coxpresdb.jp/data/gene/10723.shtml CleanEx HS_SLC12A7 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC12A7 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1038/nature02919 http://dx.doi.org/10.1038/nature02919 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1074/jbc.274.23.16355 http://dx.doi.org/10.1074/jbc.274.23.16355 DOI 10.1074/jbc.M003112200 http://dx.doi.org/10.1074/jbc.M003112200 DOI 10.1093/dnares/7.6.357 http://dx.doi.org/10.1093/dnares/7.6.357 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/scisignal.2000007 http://dx.doi.org/10.1126/scisignal.2000007 DOI 10.1152/ajpcell.00070.2011 http://dx.doi.org/10.1152/ajpcell.00070.2011 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 DrugBank DB00761 http://www.drugbank.ca/drugs/DB00761 EMBL AC116351 http://www.ebi.ac.uk/ena/data/view/AC116351 EMBL AF105365 http://www.ebi.ac.uk/ena/data/view/AF105365 EMBL AK024493 http://www.ebi.ac.uk/ena/data/view/AK024493 EMBL AK024497 http://www.ebi.ac.uk/ena/data/view/AK024497 EMBL AL117433 http://www.ebi.ac.uk/ena/data/view/AL117433 EMBL BC007760 http://www.ebi.ac.uk/ena/data/view/BC007760 EMBL BC098390 http://www.ebi.ac.uk/ena/data/view/BC098390 Ensembl ENST00000264930 http://www.ensembl.org/id/ENST00000264930 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0015379 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015379 GO_function GO:0019901 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019901 GO_function GO:0022820 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022820 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0006811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006811 GO_process GO:0006884 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006884 GO_process GO:0007268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007268 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GeneCards SLC12A7 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC12A7 GeneID 10723 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=10723 GeneTree ENSGT00760000119053 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119053 H-InvDB HIX0004714 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0004714 HGNC HGNC:10915 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10915 HOGENOM HOG000092644 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000092644&db=HOGENOM6 HOVERGEN HBG052852 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052852&db=HOVERGEN HPA HPA041652 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA041652 InParanoid Q9Y666 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9Y666 IntAct Q9Y666 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9Y666* InterPro IPR000076 http://www.ebi.ac.uk/interpro/entry/IPR000076 InterPro IPR004841 http://www.ebi.ac.uk/interpro/entry/IPR004841 InterPro IPR004842 http://www.ebi.ac.uk/interpro/entry/IPR004842 InterPro IPR018491 http://www.ebi.ac.uk/interpro/entry/IPR018491 InterPro IPR030354 http://www.ebi.ac.uk/interpro/entry/IPR030354 Jabion 10723 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=10723 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:10723 http://www.genome.jp/dbget-bin/www_bget?hsa:10723 KEGG_Orthology KO:K13627 http://www.genome.jp/dbget-bin/www_bget?KO:K13627 KEGG_Pathway ko04966 http://www.genome.jp/kegg-bin/show_pathway?ko04966 MIM 604879 http://www.ncbi.nlm.nih.gov/omim/604879 MINT MINT-4658387 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-4658387 OMA TASHSAM http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=TASHSAM OrthoDB EOG091G0WB4 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0WB4 PANTHER PTHR11827:SF47 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11827:SF47 PRINTS PR01081 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01081 PSORT swissprot:S12A7_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S12A7_HUMAN PSORT-B swissprot:S12A7_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S12A7_HUMAN PSORT2 swissprot:S12A7_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S12A7_HUMAN Pfam PF00324 http://pfam.xfam.org/family/PF00324 Pfam PF03522 http://pfam.xfam.org/family/PF03522 PharmGKB PA35809 http://www.pharmgkb.org/do/serve?objId=PA35809&objCls=Gene Phobius swissprot:S12A7_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S12A7_HUMAN PhylomeDB Q9Y666 http://phylomedb.org/?seqid=Q9Y666 ProteinModelPortal Q9Y666 http://www.proteinmodelportal.org/query/uniprot/Q9Y666 PubMed 10347194 http://www.ncbi.nlm.nih.gov/pubmed/10347194 PubMed 10913127 http://www.ncbi.nlm.nih.gov/pubmed/10913127 PubMed 11214971 http://www.ncbi.nlm.nih.gov/pubmed/11214971 PubMed 15372022 http://www.ncbi.nlm.nih.gov/pubmed/15372022 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 19690332 http://www.ncbi.nlm.nih.gov/pubmed/19690332 PubMed 21613606 http://www.ncbi.nlm.nih.gov/pubmed/21613606 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 Reactome R-HSA-426117 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-426117 RefSeq NP_006589 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_006589 STRING 9606.ENSP00000264930 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000264930&targetmode=cogs TCDB 2.A.30.5 http://www.tcdb.org/search/result.php?tc=2.A.30.5 TIGRFAMs TIGR00930 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00930 UCSC uc003jbu http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003jbu&org=rat UniGene Hs.172613 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.172613 UniProtKB S12A7_HUMAN http://www.uniprot.org/uniprot/S12A7_HUMAN UniProtKB-AC Q9Y666 http://www.uniprot.org/uniprot/Q9Y666 charge swissprot:S12A7_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S12A7_HUMAN eggNOG COG0531 http://eggnogapi.embl.de/nog_data/html/tree/COG0531 eggNOG KOG2082 http://eggnogapi.embl.de/nog_data/html/tree/KOG2082 epestfind swissprot:S12A7_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S12A7_HUMAN garnier swissprot:S12A7_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S12A7_HUMAN helixturnhelix swissprot:S12A7_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S12A7_HUMAN hmoment swissprot:S12A7_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S12A7_HUMAN iep swissprot:S12A7_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S12A7_HUMAN inforesidue swissprot:S12A7_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S12A7_HUMAN neXtProt NX_Q9Y666 http://www.nextprot.org/db/entry/NX_Q9Y666 octanol swissprot:S12A7_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S12A7_HUMAN pepcoil swissprot:S12A7_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S12A7_HUMAN pepdigest swissprot:S12A7_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S12A7_HUMAN pepinfo swissprot:S12A7_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S12A7_HUMAN pepnet swissprot:S12A7_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S12A7_HUMAN pepstats swissprot:S12A7_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S12A7_HUMAN pepwheel swissprot:S12A7_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S12A7_HUMAN pepwindow swissprot:S12A7_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S12A7_HUMAN sigcleave swissprot:S12A7_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S12A7_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS KCNA2_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P16389-1; Sequence=Displayed; Name=2; IsoId=P16389-2; Sequence=VSP_043077; Note=No experimental confirmation available.; # AltName KCNA2_HUMAN NGK1 # AltName KCNA2_HUMAN Voltage-gated potassium channel HBK5 # AltName KCNA2_HUMAN Voltage-gated potassium channel subunit Kv1.2 # AltName Voltage-gated K(+) channel HuKIV {ECO:0000303|PubMed 19912772} # BIOPHYSICOCHEMICAL PROPERTIES Kinetic parameters: Note=Homotetrameric channels activate rapidly, i.e within a few msec, but inactivation is very slow, with only a marginal decrease in conductance over several seconds. The voltage- dependence of activation and inactivation and other channel characteristics vary depending on the experimental conditions, the expression system, post-translational modifications and the presence or absence of ancillary subunits. For the activation of homotetrameric channels expressed in xenopus oocytes, the threshold is at about -30 mV and the midpoint at about -5 mV. {ECO 0000269|PubMed:19912772}; # BioGrid 109940 17 # CCDS CCDS55625 -. [P16389-2] # CCDS CCDS827 -. [P16389-1] # DISEASE KCNA2_HUMAN Epileptic encephalopathy, early infantile, 32 (EIEE32) [MIM 616366] A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. {ECO 0000269|PubMed 25477152, ECO 0000269|PubMed 25751627}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DOMAIN KCNA2_HUMAN The cytoplasmic N-terminus is important for tetramerization. Interactions between the different subunits modulate the gating characteristics (By similarity). Besides, the cytoplasmic N-terminal domain mediates interaction with RHOA and thus is required for RHOA-mediated endocytosis (By similarity). {ECO 0000250|UniProtKB P63142}. # DOMAIN KCNA2_HUMAN The transmembrane segment S4 functions as voltage-sensor and is characterized by a series of positively charged amino acids at every third position. Channel opening and closing is effected by a conformation change that affects the position and orientation of the voltage-sensor paddle formed by S3 and S4 within the membrane. A transmembrane electric field that is positive inside would push the positively charged S4 segment outwards, thereby opening the pore, while a field that is negative inside would pull the S4 segment inwards and close the pore. Changes in the position and orientation of S4 are then transmitted to the activation gate formed by the inner helix bundle via the S4-S5 linker region. {ECO 0000250|UniProtKB P63142}. # DrugBank DB06637 Dalfampridine # ENZYME REGULATION KCNA2_HUMAN Inhibited by 4-aminopyridine (4-AP) and charybdotoxin (CTX), but not by tetraethylammonium (TEA) (PubMed 19912772). Inhibited by dendrotoxin (DTX) (By similarity). Inhibited by tityustoxin-K alpha (TsTX-Kalpha), a toxin that is highly specific for KCNA2 (By similarity). Inhibited by maurotoxin (By similarity). Inhibited by kappaM conotoxins kappaM-RIIIJ and kappaM-RIIIK; kappaM-RIIIJ has much higher affinity for channels containing KCNA2 than kappaM-RIIIK, with the exception of heterodimers formed by KCNA2 and KCNA7 where the opposite is true (PubMed 20220134). {ECO 0000250|UniProtKB P63141, ECO 0000250|UniProtKB P63142, ECO 0000269|PubMed 19912772, ECO 0000269|PubMed 20220134}. # Ensembl ENST00000316361 ENSP00000314520; ENSG00000177301. [P16389-1] # Ensembl ENST00000369770 ENSP00000358785; ENSG00000177301. [P16389-2] # Ensembl ENST00000485317 ENSP00000433109; ENSG00000177301. [P16389-1] # Ensembl ENST00000633222 ENSP00000487785; ENSG00000177301. [P16389-1] # FUNCTION KCNA2_HUMAN Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes, primarily in the brain and the central nervous system, but also in the cardiovascular system. Prevents aberrant action potential firing and regulates neuronal output. Forms tetrameric potassium- selective channels through which potassium ions pass in accordance with their electrochemical gradient. The channel alternates between opened and closed conformations in response to the voltage difference across the membrane (PubMed 19912772, PubMed 8495559, PubMed 11211111, PubMed 23769686). Can form functional homotetrameric channels and heterotetrameric channels that contain variable proportions of KCNA1, KCNA2, KCNA4, KCNA5, KCNA6, KCNA7, and possibly other family members as well; channel properties depend on the type of alpha subunits that are part of the channel (PubMed 8495559, PubMed 20220134). Channel properties are modulated by cytoplasmic beta subunits that regulate the subcellular location of the alpha subunits and promote rapid inactivation of delayed rectifier potassium channels. In vivo, membranes probably contain a mixture of heteromeric potassium channel complexes, making it difficult to assign currents observed in intact tissues to any particular potassium channel family member. Homotetrameric KCNA2 forms a delayed-rectifier potassium channel that opens in response to membrane depolarization, followed by slow spontaneous channel closure (PubMed 19912772, PubMed 23769686). In contrast, a heteromultimer formed by KCNA2 and KCNA4 shows rapid inactivation (PubMed 8495559). Regulates neuronal excitability and plays a role as pacemaker in the regulation of neuronal action potentials (By similarity). KCNA2- containing channels play a presynaptic role and prevent hyperexcitability and aberrant action potential firing (By similarity). Response to toxins that are selective for KCNA2- containing potassium channels suggests that in Purkinje cells, dendritic subthreshold KCNA2-containing potassium channels prevent random spontaneous calcium spikes, suppressing dendritic hyperexcitability without hindering the generation of somatic action potentials, and thereby play an important role in motor coordination (By similarity). Plays a role in the induction of long-term potentiation of neuron excitability in the CA3 layer of the hippocampus (By similarity). May function as down-stream effector for G protein-coupled receptors and inhibit GABAergic inputs to basolateral amygdala neurons (By similarity). May contribute to the regulation of neurotransmitter release, such as gamma-aminobutyric acid (GABA) (By similarity). Contributes to the regulation of the axonal release of the neurotransmitter dopamine (By similarity). Reduced KCNA2 expression plays a role in the perception of neuropathic pain after peripheral nerve injury, but not acute pain (By similarity). Plays a role in the regulation of the time spent in non-rapid eye movement (NREM) sleep (By similarity). {ECO 0000250|UniProtKB P63141, ECO 0000250|UniProtKB P63142, ECO 0000269|PubMed 11211111, ECO 0000269|PubMed 19912772, ECO 0000269|PubMed 20220134, ECO 0000269|PubMed 23769686, ECO 0000269|PubMed 8495559, ECO 0000305}. # GO_component GO:0005789 endoplasmic reticulum membrane; IEA:UniProtKB-SubCell. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IMP:UniProtKB. # GO_component GO:0008076 voltage-gated potassium channel complex; IDA:UniProtKB. # GO_component GO:0030027 lamellipodium; ISS:UniProtKB. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0030424 axon; ISS:UniProtKB. # GO_component GO:0030425 dendrite; ISS:UniProtKB. # GO_component GO:0031258 lamellipodium membrane; IEA:UniProtKB-SubCell. # GO_component GO:0032809 neuronal cell body membrane; ISS:UniProtKB. # GO_component GO:0042734 presynaptic membrane; IEA:UniProtKB-SubCell. # GO_component GO:0043204 perikaryon; ISS:UniProtKB. # GO_component GO:0043679 axon terminus; ISS:UniProtKB. # GO_component GO:0044224 juxtaparanode region of axon; ISS:BHF-UCL. # GO_function GO:0005249 voltage-gated potassium channel activity; IMP:UniProtKB. # GO_function GO:0005251 delayed rectifier potassium channel activity; ISS:UniProtKB. # GO_function GO:0005267 potassium channel activity; TAS:ProtInc. # GO_function GO:0015271 outward rectifier potassium channel activity; IEA:Ensembl. # GO_process GO:0006813 potassium ion transport; TAS:ProtInc. # GO_process GO:0014059 regulation of dopamine secretion; ISS:UniProtKB. # GO_process GO:0019228 neuronal action potential; ISS:UniProtKB. # GO_process GO:0019233 sensory perception of pain; ISS:UniProtKB. # GO_process GO:0021633 optic nerve structural organization; IEA:Ensembl. # GO_process GO:0045188 regulation of circadian sleep/wake cycle, non-REM sleep; IEA:Ensembl. # GO_process GO:0051260 protein homooligomerization; IEA:InterPro. # GO_process GO:0071805 potassium ion transmembrane transport; IMP:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0050877 neurological system process # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.20.120.350 -; 1. # Genevisible P16389 HS # HGNC HGNC:6220 KCNA2 # INTERACTION KCNA2_HUMAN P49069 CAMLG; NbExp=3; IntAct=EBI-10210559, EBI-1748958; # InterPro IPR000210 BTB/POZ_dom # InterPro IPR003131 T1-type_BTB # InterPro IPR003968 K_chnl_volt-dep_Kv # InterPro IPR003972 K_chnl_volt-dep_Kv1 # InterPro IPR004049 K_chnl_volt-dep_Kv1.2 # InterPro IPR005821 Ion_trans_dom # InterPro IPR011333 SKP1/BTB/POZ # InterPro IPR027359 Channel_four-helix_dom # InterPro IPR028325 VG_K_chnl # KEGG_Brite ko04040 Ion channels # MIM 176262 gene # MIM 616366 phenotype # MISCELLANEOUS The delay or D-type current observed in hippocampus pyramidal neurons is probably mediated by potassium channels containing KCNA2 plus KCNA1 or other family members. It is activated at about -50 mV, i.e. below the action potential threshold, and is characterized by slow inactivation, extremely slow recovery from inactivation, sensitivity to dendrotoxin (DTX) and to 4-aminopyridine (4-AP). {ECO:0000305|PubMed 17917103}. # Organism KCNA2_HUMAN Homo sapiens (Human) # PANTHER PTHR11537 PTHR11537 # PIR I77466 I77466 # PRINTS PR00169 KCHANNEL # PRINTS PR01491 KVCHANNEL # PRINTS PR01496 SHAKERCHANEL # PRINTS PR01509 KV12CHANNEL # PTM KCNA2_HUMAN N-glycosylated, with complex, sialylated N-glycans. {ECO 0000250|UniProtKB P63142}. # PTM KCNA2_HUMAN Phosphorylated on tyrosine residues; phosphorylation increases in response to ischemia (By similarity). Phosphorylated on tyrosine residues by activated PTK2B/PYK2 (By similarity). Phosphorylation on tyrosine residues suppresses ion channel activity (By similarity). Phosphorylated on tyrosine residues in response to CHRM1 activation; this abolishes interaction with CTTN. This is probably due to endocytosis of the phosphorylated channel subunits (By similarity). Phosphorylated on serine residues in response to increased cAMP levels; phosphorylation is apparently not catalyzed by PKA (By similarity). {ECO 0000250|UniProtKB P63142}. # Pfam PF00520 Ion_trans # Pfam PF02214 BTB_2 # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-1296072 Voltage gated Potassium channels # RecName KCNA2_HUMAN Potassium voltage-gated channel subfamily A member 2 # RefSeq NP_001191198 NM_001204269.1. [P16389-2] # RefSeq NP_004965 NM_004974.3. [P16389-1] # RefSeq XP_011539698 XM_011541396.2. [P16389-1] # RefSeq XP_011539699 XM_011541397.2. [P16389-1] # RefSeq XP_011539700 XM_011541398.2. [P16389-1] # RefSeq XP_011539701 XM_011541399.2. [P16389-1] # RefSeq XP_011539702 XM_011541400.2. [P16389-1] # RefSeq XP_016856702 XM_017001213.1. [P16389-1] # SIMILARITY Belongs to the potassium channel family. A (Shaker) (TC 1.A.1.2) subfamily. Kv1.2/KCNA2 sub-subfamily. {ECO 0000305}. # SMART SM00225 BTB # SUBCELLULAR LOCATION KCNA2_HUMAN Cell membrane {ECO 0000269|PubMed 11211111, ECO 0000269|PubMed 19912772, ECO 0000269|PubMed 20220134, ECO 0000269|PubMed 23769686, ECO 0000269|PubMed 8495559}; Multi- pass membrane protein {ECO 0000250|UniProtKB P63142, ECO 0000305}. Membrane {ECO 0000250|UniProtKB P63142}. Cell projection, axon {ECO 0000269|PubMed 16473933}. Cell junction, synapse {ECO 0000250|UniProtKB P63142}. Endoplasmic reticulum membrane {ECO 0000250|UniProtKB P63142}. Cell projection, lamellipodium membrane {ECO 0000250|UniProtKB P63142}. Cell junction, synapse, synaptosome {ECO 0000250|UniProtKB P63141}. Cell junction, synapse, presynaptic cell membrane {ECO 0000250|UniProtKB P63141}. Cell projection, dendrite {ECO 0000250|UniProtKB P63141}. Note=KCNA2 by itself is detected both at the endoplasmic reticulum and at the cell membrane. Coexpression with KCNA4 or with beta subunits promotes expression at the cell membrane. Coexpression with KCNA1 inhibits cell surface expression. {ECO 0000250|UniProtKB P63142}. # SUBUNIT KCNA2_HUMAN Homotetramer and heterotetramer with other channel- forming alpha subunits, such as KCNA1, KCNA4, KCNA5, KCNA6 and KCNA7. Channel activity is regulated by interaction with the beta subunits, including KCNAB1 and KCNAB2. Identified in a complex with KCNA1 and KCNAB2 (PubMed 11086297). Identified in a complex with KCNA5 and KCNAB1 (By similarity). Identified in a complex with KCNA4 and FYN (By similarity). Interacts with the beta subunit KCNAB1 (PubMed 19713757). Interacts with PTK2B (By similarity). Interacts (via C-terminus) with CTTN (By similarity). Interacts (via N-terminal cytoplasmic domain) with RHOA (GTP-bound form); this regulates channel activity by reducing location at the cell surface in response to CHRM1 activation (By similarity). Interacts with DRD2 (By similarity). Interacts with SIGMAR1; cocaine consumption leads to increased interaction (By similarity). Interacts with ADAM22 (By similarity). Interacts (via C-terminus) with the PDZ domains of DLG1, DLG2 and DLG4 (By similarity). Interacts with CNTNAP2 (PubMed 10624965). {ECO 0000250|UniProtKB P63141, ECO 0000250|UniProtKB P63142, ECO 0000250|UniProtKB Q09081, ECO 0000269|PubMed 10624965, ECO 0000269|PubMed 11086297, ECO 0000269|PubMed 19713757, ECO 0000269|PubMed 8495559, ECO 0000305}. # SUPFAM SSF54695 SSF54695 # TCDB 1.A.1.2.10 the voltage-gated ion channel (vic) superfamily # TISSUE SPECIFICITY KCNA2_HUMAN Detected in brain cortex (PubMed 16473933). Detected in peroneal nerve in the juxtaparanodal regions of the node of Ranvier; expression is decreased in patients with diabetes mellitus that suffer from axonal neuropathy (PubMed 22649228). Detected in paranodal and juxtanodal zones in myelinated spinal cord (at protein level) (PubMed 11086297). {ECO 0000269|PubMed 11086297, ECO 0000269|PubMed 16473933, ECO 0000269|PubMed 22649228}. # UCSC uc009wfv human. [P16389-1] # eggNOG COG1226 LUCA # eggNOG KOG1545 Eukaryota BLAST swissprot:KCNA2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCNA2_HUMAN BioCyc ZFISH:ENSG00000177301-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000177301-MONOMER COXPRESdb 3737 http://coxpresdb.jp/data/gene/3737.shtml CleanEx HS_KCNA2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNA2 DOI 10.1002/1096-9861(20000101)429:1<166::AID-CNE13>3.0.CO http://dx.doi.org/10.1002/1096-9861(20000101)429:1<166::AID-CNE13>3.0.CO DOI 10.1007/s004240000406 http://dx.doi.org/10.1007/s004240000406 DOI 10.1007/s12035-007-8001-0 http://dx.doi.org/10.1007/s12035-007-8001-0 DOI 10.1016/1044-7431(90)90004-N http://dx.doi.org/10.1016/1044-7431(90)90004-N DOI 10.1016/S0896-6273(00)81049-1 http://dx.doi.org/10.1016/S0896-6273(00)81049-1 DOI 10.1016/j.neulet.2013.05.048 http://dx.doi.org/10.1016/j.neulet.2013.05.048 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1038/ng.3239 http://dx.doi.org/10.1038/ng.3239 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.0511197103 http://dx.doi.org/10.1073/pnas.0511197103 DOI 10.1074/jbc.M109.068486 http://dx.doi.org/10.1074/jbc.M109.068486 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/cge.12542 http://dx.doi.org/10.1111/cge.12542 DOI 10.1161/01.RES.72.6.1326 http://dx.doi.org/10.1161/01.RES.72.6.1326 DOI 10.1523/JNEUROSCI.0719-12.2012 http://dx.doi.org/10.1523/JNEUROSCI.0719-12.2012 DOI 10.4161/chan.3.5.9558 http://dx.doi.org/10.4161/chan.3.5.9558 DrugBank DB06637 http://www.drugbank.ca/drugs/DB06637 EMBL AK290061 http://www.ebi.ac.uk/ena/data/view/AK290061 EMBL AL365361 http://www.ebi.ac.uk/ena/data/view/AL365361 EMBL BC043564 http://www.ebi.ac.uk/ena/data/view/BC043564 EMBL CH471122 http://www.ebi.ac.uk/ena/data/view/CH471122 EMBL CH471122 http://www.ebi.ac.uk/ena/data/view/CH471122 EMBL L02752 http://www.ebi.ac.uk/ena/data/view/L02752 Ensembl ENST00000316361 http://www.ensembl.org/id/ENST00000316361 Ensembl ENST00000369770 http://www.ensembl.org/id/ENST00000369770 Ensembl ENST00000485317 http://www.ensembl.org/id/ENST00000485317 Ensembl ENST00000633222 http://www.ensembl.org/id/ENST00000633222 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005789 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005789 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0008076 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008076 GO_component GO:0030027 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030027 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0030424 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030424 GO_component GO:0030425 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030425 GO_component GO:0031258 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031258 GO_component GO:0032809 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032809 GO_component GO:0042734 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042734 GO_component GO:0043204 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043204 GO_component GO:0043679 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043679 GO_component GO:0044224 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044224 GO_function GO:0005249 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005249 GO_function GO:0005251 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005251 GO_function GO:0005267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005267 GO_function GO:0015271 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015271 GO_process GO:0006813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006813 GO_process GO:0014059 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014059 GO_process GO:0019228 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019228 GO_process GO:0019233 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019233 GO_process GO:0021633 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021633 GO_process GO:0045188 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045188 GO_process GO:0051260 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051260 GO_process GO:0071805 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071805 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.20.120.350 http://www.cathdb.info/version/latest/superfamily/1.20.120.350 GeneCards KCNA2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNA2 GeneID 3737 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=3737 GeneTree ENSGT00760000118846 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118846 HGNC HGNC:6220 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6220 HOGENOM HOG000231015 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231015&db=HOGENOM6 HOVERGEN HBG052230 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052230&db=HOVERGEN HPA CAB001976 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB001976 InParanoid P16389 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P16389 IntAct P16389 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P16389* InterPro IPR000210 http://www.ebi.ac.uk/interpro/entry/IPR000210 InterPro IPR003131 http://www.ebi.ac.uk/interpro/entry/IPR003131 InterPro IPR003968 http://www.ebi.ac.uk/interpro/entry/IPR003968 InterPro IPR003972 http://www.ebi.ac.uk/interpro/entry/IPR003972 InterPro IPR004049 http://www.ebi.ac.uk/interpro/entry/IPR004049 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR011333 http://www.ebi.ac.uk/interpro/entry/IPR011333 InterPro IPR027359 http://www.ebi.ac.uk/interpro/entry/IPR027359 InterPro IPR028325 http://www.ebi.ac.uk/interpro/entry/IPR028325 Jabion 3737 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=3737 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:3737 http://www.genome.jp/dbget-bin/www_bget?hsa:3737 KEGG_Orthology KO:K04875 http://www.genome.jp/dbget-bin/www_bget?KO:K04875 MIM 176262 http://www.ncbi.nlm.nih.gov/omim/176262 MIM 616366 http://www.ncbi.nlm.nih.gov/omim/616366 OMA MTFHTYS http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=MTFHTYS OrthoDB EOG091G10NU http://cegg.unige.ch/orthodb/results?searchtext=EOG091G10NU PANTHER PTHR11537 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11537 PRINTS PR00169 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00169 PRINTS PR01491 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01491 PRINTS PR01496 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01496 PRINTS PR01509 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01509 PSORT swissprot:KCNA2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCNA2_HUMAN PSORT-B swissprot:KCNA2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCNA2_HUMAN PSORT2 swissprot:KCNA2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCNA2_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF02214 http://pfam.xfam.org/family/PF02214 PharmGKB PA206 http://www.pharmgkb.org/do/serve?objId=PA206&objCls=Gene Phobius swissprot:KCNA2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCNA2_HUMAN PhylomeDB P16389 http://phylomedb.org/?seqid=P16389 ProteinModelPortal P16389 http://www.proteinmodelportal.org/query/uniprot/P16389 PubMed 10624965 http://www.ncbi.nlm.nih.gov/pubmed/10624965 PubMed 11086297 http://www.ncbi.nlm.nih.gov/pubmed/11086297 PubMed 11211111 http://www.ncbi.nlm.nih.gov/pubmed/11211111 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16473933 http://www.ncbi.nlm.nih.gov/pubmed/16473933 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 17917103 http://www.ncbi.nlm.nih.gov/pubmed/17917103 PubMed 19713757 http://www.ncbi.nlm.nih.gov/pubmed/19713757 PubMed 19912772 http://www.ncbi.nlm.nih.gov/pubmed/19912772 PubMed 20220134 http://www.ncbi.nlm.nih.gov/pubmed/20220134 PubMed 22649228 http://www.ncbi.nlm.nih.gov/pubmed/22649228 PubMed 23769686 http://www.ncbi.nlm.nih.gov/pubmed/23769686 PubMed 25477152 http://www.ncbi.nlm.nih.gov/pubmed/25477152 PubMed 25751627 http://www.ncbi.nlm.nih.gov/pubmed/25751627 PubMed 8495559 http://www.ncbi.nlm.nih.gov/pubmed/8495559 Reactome R-HSA-1296072 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1296072 RefSeq NP_001191198 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001191198 RefSeq NP_004965 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004965 RefSeq XP_011539698 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011539698 RefSeq XP_011539699 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011539699 RefSeq XP_011539700 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011539700 RefSeq XP_011539701 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011539701 RefSeq XP_011539702 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011539702 RefSeq XP_016856702 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016856702 SMART SM00225 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00225 SMR P16389 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P16389 STRING 9606.ENSP00000314520 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000314520&targetmode=cogs SUPFAM SSF54695 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF54695 TCDB 1.A.1.2.10 http://www.tcdb.org/search/result.php?tc=1.A.1.2.10 UCSC uc009wfv http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc009wfv&org=rat UniGene Hs.248139 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.248139 UniGene Hs.657199 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.657199 UniGene Hs.731191 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.731191 UniProtKB KCNA2_HUMAN http://www.uniprot.org/uniprot/KCNA2_HUMAN UniProtKB-AC P16389 http://www.uniprot.org/uniprot/P16389 charge swissprot:KCNA2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCNA2_HUMAN eggNOG COG1226 http://eggnogapi.embl.de/nog_data/html/tree/COG1226 eggNOG KOG1545 http://eggnogapi.embl.de/nog_data/html/tree/KOG1545 epestfind swissprot:KCNA2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCNA2_HUMAN garnier swissprot:KCNA2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCNA2_HUMAN helixturnhelix swissprot:KCNA2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCNA2_HUMAN hmoment swissprot:KCNA2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCNA2_HUMAN iep swissprot:KCNA2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCNA2_HUMAN inforesidue swissprot:KCNA2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCNA2_HUMAN neXtProt NX_P16389 http://www.nextprot.org/db/entry/NX_P16389 octanol swissprot:KCNA2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCNA2_HUMAN pepcoil swissprot:KCNA2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCNA2_HUMAN pepdigest swissprot:KCNA2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCNA2_HUMAN pepinfo swissprot:KCNA2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCNA2_HUMAN pepnet swissprot:KCNA2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCNA2_HUMAN pepstats swissprot:KCNA2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCNA2_HUMAN pepwheel swissprot:KCNA2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCNA2_HUMAN pepwindow swissprot:KCNA2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCNA2_HUMAN sigcleave swissprot:KCNA2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCNA2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S4A8_HUMAN Event=Alternative splicing; Named isoforms=8; Name=1 {ECO 0000269|Ref.2}; IsoId=Q2Y0W8-1; Sequence=Displayed; Name=2 {ECO 0000269|PubMed 9872452}; IsoId=Q2Y0W8-2; Sequence=VSP_052760, VSP_052765; Note=No experimental confirmation available. {ECO 0000305}; Name=3 {ECO 0000269|PubMed 11133997}; IsoId=Q2Y0W8-3; Sequence=VSP_052765; Note=May be due to an intron retention.; Name=4 {ECO 0000269|Ref.2}; IsoId=Q2Y0W8-4; Sequence=VSP_052759, VSP_052765; Note=May be due to an intron retention.; Name=5 {ECO 0000269|Ref.2}; IsoId=Q2Y0W8-5; Sequence=VSP_052759; Name=6 {ECO 0000269|PubMed 15489334}; IsoId=Q2Y0W8-6; Sequence=VSP_052761, VSP_052762; Name=7; IsoId=Q2Y0W8-7; Sequence=VSP_052759, VSP_052763, VSP_052764; Note=No experimental confirmation available. Ref.5 (CAD38576) sequence is in conflict in position 707 Q->R. Ref.5 (CAD38576) sequence is in conflict in position 716 R->G. {ECO 0000305}; Name=8; IsoId=Q2Y0W8-8; Sequence=VSP_052759, VSP_052761, VSP_052762; Note=No experimental confirmation available.; # AltName S4A8_HUMAN Electroneutral Na(+)-driven Cl-HCO3 exchanger # AltName S4A8_HUMAN Solute carrier family 4 member 8 # AltName S4A8_HUMAN k-NBC3 # BioGrid 114877 30 # CCDS CCDS44890 -. [Q2Y0W8-1] # CCDS CCDS58232 -. [Q2Y0W8-7] # CCDS CCDS58233 -. [Q2Y0W8-8] # CCDS CCDS73470 -. [Q2Y0W8-5] # ChiTaRS SLC4A8 human # DrugBank DB01390 Sodium bicarbonate # ENZYME REGULATION S4A8_HUMAN Activity is inhibited by 4,4'-Di- isothiocyanatostilbene-2,2'-disulfonic acid (DIDS - an inhibitor of several anion channels and transporters). # Ensembl ENST00000358657 ENSP00000351483; ENSG00000050438. [Q2Y0W8-5] # Ensembl ENST00000453097 ENSP00000405812; ENSG00000050438. [Q2Y0W8-1] # Ensembl ENST00000514353 ENSP00000442561; ENSG00000050438. [Q2Y0W8-7] # Ensembl ENST00000535225 ENSP00000441520; ENSG00000050438. [Q2Y0W8-8] # FUNCTION S4A8_HUMAN Mediates electroneutral sodium- and carbonate-dependent chloride-HCO3(-) exchange with a Na(+) HCO3(-) stoichiometry of 2 1. Plays a major role in pH regulation in neurons. May be involved in cell pH regulation by transporting HCO3(-) from blood to cell. Enhanced expression in severe acid stress could be important for cell survival by mediating the influx of HCO3(-) into the cells. Also mediates lithium-dependent HCO3(-) cotransport. May be regulated by osmolarity. {ECO 0000269|PubMed 10362779, ECO 0000269|PubMed 11133997}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0032809 neuronal cell body membrane; IEA:Ensembl. # GO_component GO:0043005 neuron projection; IEA:Ensembl. # GO_function GO:0005452 inorganic anion exchanger activity; TAS:Reactome. # GO_function GO:0008509 anion transmembrane transporter activity; IBA:GO_Central. # GO_function S4A8_HUMAN GO 0015301 anion anion antiporter activity; IEA UniProtKB-KW. # GO_process GO:0006814 sodium ion transport; IEA:UniProtKB-KW. # GO_process GO:0015701 bicarbonate transport; IBA:GO_Central. # GO_process GO:0051453 regulation of intracellular pH; IBA:GO_Central. # GO_process GO:0098656 anion transmembrane transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 3.40.1100.10 -; 1. # Genevisible Q2Y0W8 HS # HGNC HGNC:11034 SLC4A8 # InterPro IPR003020 HCO3_transpt_euk # InterPro IPR003024 Na/HCO3_transpt # InterPro IPR011531 HCO3_transpt_C # InterPro IPR013769 Band3_cytoplasmic_dom # InterPro IPR016152 PTrfase/Anion_transptr # KEGG_Brite ko02001 Solute carrier family # MIM 605024 gene # Organism S4A8_HUMAN Homo sapiens (Human) # PANTHER PTHR11453 PTHR11453 # PRINTS PR01231 HCO3TRNSPORT # PRINTS PR01232 NAHCO3TRSPRT # Pfam PF00955 HCO3_cotransp # Pfam PF07565 Band_3_cyto # Proteomes UP000005640 Chromosome 12 # Reactome R-HSA-425381 Bicarbonate transporters # RecName S4A8_HUMAN Electroneutral sodium bicarbonate exchanger 1 # RefSeq NP_001035049 NM_001039960.2. [Q2Y0W8-1] # RefSeq NP_001245330 NM_001258401.2. [Q2Y0W8-5] # RefSeq NP_001245331 NM_001258402.1. [Q2Y0W8-6] # RefSeq NP_001245332 NM_001258403.1. [Q2Y0W8-7] # RefSeq NP_001254544 NM_001267615.1. [Q2Y0W8-8] # RefSeq XP_016875730 XM_017020241.1. [Q2Y0W8-2] # SEQUENCE CAUTION Sequence=BAA34459.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAD38576.2; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the anion exchanger (TC 2.A.31) family. {ECO 0000255}. # SUBCELLULAR LOCATION S4A8_HUMAN Membrane {ECO 0000269|PubMed 17715183}; Multi-pass membrane protein {ECO 0000269|PubMed 17715183}. # SUPFAM SSF55804 SSF55804 # TCDB 2.A.31.2 the anion exchanger (ae) family # TIGRFAMs TIGR00834 ae # TISSUE SPECIFICITY S4A8_HUMAN Expressed in the pyramidal cells of the hippocampus (at protein level). Highly expressed in all major regions of the brain, spinal column and in testis, and moderate levels in trachea, thyroid and medulla region of kidney. Low expression levels observed in pancreas and kidney cortex. {ECO 0000269|PubMed 10362779, ECO 0000269|PubMed 11133997, ECO 0000269|PubMed 17715183}. # UCSC uc001rys human. [Q2Y0W8-1] # eggNOG ENOG410XPHD LUCA # eggNOG KOG1172 Eukaryota BLAST swissprot:S4A8_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S4A8_HUMAN COXPRESdb 9498 http://coxpresdb.jp/data/gene/9498.shtml CleanEx HS_SLC4A8 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC4A8 DOI 10.1038/nature04569 http://dx.doi.org/10.1038/nature04569 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1074/jbc.C000716200 http://dx.doi.org/10.1074/jbc.C000716200 DOI 10.1093/dnares/5.5.277 http://dx.doi.org/10.1093/dnares/5.5.277 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1152/ajpregu.00356.2007 http://dx.doi.org/10.1152/ajpregu.00356.2007 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 DrugBank DB01390 http://www.drugbank.ca/drugs/DB01390 EMBL AB018282 http://www.ebi.ac.uk/ena/data/view/AB018282 EMBL AC025097 http://www.ebi.ac.uk/ena/data/view/AC025097 EMBL AC046135 http://www.ebi.ac.uk/ena/data/view/AC046135 EMBL AC107031 http://www.ebi.ac.uk/ena/data/view/AC107031 EMBL AF069512 http://www.ebi.ac.uk/ena/data/view/AF069512 EMBL AF107099 http://www.ebi.ac.uk/ena/data/view/AF107099 EMBL AK295315 http://www.ebi.ac.uk/ena/data/view/AK295315 EMBL AL831915 http://www.ebi.ac.uk/ena/data/view/AL831915 EMBL BC025994 http://www.ebi.ac.uk/ena/data/view/BC025994 EMBL CH471111 http://www.ebi.ac.uk/ena/data/view/CH471111 EMBL DQ063579 http://www.ebi.ac.uk/ena/data/view/DQ063579 EMBL DQ975204 http://www.ebi.ac.uk/ena/data/view/DQ975204 EMBL DQ996398 http://www.ebi.ac.uk/ena/data/view/DQ996398 EMBL DQ996537 http://www.ebi.ac.uk/ena/data/view/DQ996537 Ensembl ENST00000358657 http://www.ensembl.org/id/ENST00000358657 Ensembl ENST00000453097 http://www.ensembl.org/id/ENST00000453097 Ensembl ENST00000514353 http://www.ensembl.org/id/ENST00000514353 Ensembl ENST00000535225 http://www.ensembl.org/id/ENST00000535225 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0032809 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032809 GO_component GO:0043005 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043005 GO_function GO:0005452 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005452 GO_function GO:0008509 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008509 GO_function GO:0015301 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015301 GO_process GO:0006814 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006814 GO_process GO:0015701 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015701 GO_process GO:0051453 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051453 GO_process GO:0098656 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0098656 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 3.40.1100.10 http://www.cathdb.info/version/latest/superfamily/3.40.1100.10 GeneCards SLC4A8 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC4A8 GeneID 9498 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=9498 GeneTree ENSGT00760000119021 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119021 HGNC HGNC:11034 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11034 HOGENOM HOG000280684 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000280684&db=HOGENOM6 HOVERGEN HBG004326 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG004326&db=HOVERGEN InParanoid Q2Y0W8 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q2Y0W8 IntAct Q2Y0W8 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q2Y0W8* InterPro IPR003020 http://www.ebi.ac.uk/interpro/entry/IPR003020 InterPro IPR003024 http://www.ebi.ac.uk/interpro/entry/IPR003024 InterPro IPR011531 http://www.ebi.ac.uk/interpro/entry/IPR011531 InterPro IPR013769 http://www.ebi.ac.uk/interpro/entry/IPR013769 InterPro IPR016152 http://www.ebi.ac.uk/interpro/entry/IPR016152 Jabion 9498 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=9498 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:9498 http://www.genome.jp/dbget-bin/www_bget?hsa:9498 KEGG_Orthology KO:K13859 http://www.genome.jp/dbget-bin/www_bget?KO:K13859 MIM 605024 http://www.ncbi.nlm.nih.gov/omim/605024 OMA EMGGDKF http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=EMGGDKF OrthoDB EOG091G01FT http://cegg.unige.ch/orthodb/results?searchtext=EOG091G01FT PANTHER PTHR11453 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11453 PRINTS PR01231 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01231 PRINTS PR01232 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01232 PSORT swissprot:S4A8_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S4A8_HUMAN PSORT-B swissprot:S4A8_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S4A8_HUMAN PSORT2 swissprot:S4A8_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S4A8_HUMAN Pfam PF00955 http://pfam.xfam.org/family/PF00955 Pfam PF07565 http://pfam.xfam.org/family/PF07565 PharmGKB PA35900 http://www.pharmgkb.org/do/serve?objId=PA35900&objCls=Gene Phobius swissprot:S4A8_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S4A8_HUMAN PhylomeDB Q2Y0W8 http://phylomedb.org/?seqid=Q2Y0W8 ProteinModelPortal Q2Y0W8 http://www.proteinmodelportal.org/query/uniprot/Q2Y0W8 PubMed 10362779 http://www.ncbi.nlm.nih.gov/pubmed/10362779 PubMed 11133997 http://www.ncbi.nlm.nih.gov/pubmed/11133997 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16541075 http://www.ncbi.nlm.nih.gov/pubmed/16541075 PubMed 17715183 http://www.ncbi.nlm.nih.gov/pubmed/17715183 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 9872452 http://www.ncbi.nlm.nih.gov/pubmed/9872452 Reactome R-HSA-425381 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-425381 RefSeq NP_001035049 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001035049 RefSeq NP_001245330 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001245330 RefSeq NP_001245331 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001245331 RefSeq NP_001245332 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001245332 RefSeq NP_001254544 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001254544 RefSeq XP_016875730 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016875730 STRING 9606.ENSP00000405812 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000405812&targetmode=cogs SUPFAM SSF55804 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF55804 TCDB 2.A.31.2 http://www.tcdb.org/search/result.php?tc=2.A.31.2 TIGRFAMs TIGR00834 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00834 UCSC uc001rys http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001rys&org=rat UniGene Hs.4749 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.4749 UniProtKB S4A8_HUMAN http://www.uniprot.org/uniprot/S4A8_HUMAN UniProtKB-AC Q2Y0W8 http://www.uniprot.org/uniprot/Q2Y0W8 charge swissprot:S4A8_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S4A8_HUMAN eggNOG ENOG410XPHD http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XPHD eggNOG KOG1172 http://eggnogapi.embl.de/nog_data/html/tree/KOG1172 epestfind swissprot:S4A8_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S4A8_HUMAN garnier swissprot:S4A8_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S4A8_HUMAN helixturnhelix swissprot:S4A8_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S4A8_HUMAN hmoment swissprot:S4A8_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S4A8_HUMAN iep swissprot:S4A8_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S4A8_HUMAN inforesidue swissprot:S4A8_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S4A8_HUMAN neXtProt NX_Q2Y0W8 http://www.nextprot.org/db/entry/NX_Q2Y0W8 octanol swissprot:S4A8_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S4A8_HUMAN pepcoil swissprot:S4A8_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S4A8_HUMAN pepdigest swissprot:S4A8_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S4A8_HUMAN pepinfo swissprot:S4A8_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S4A8_HUMAN pepnet swissprot:S4A8_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S4A8_HUMAN pepstats swissprot:S4A8_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S4A8_HUMAN pepwheel swissprot:S4A8_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S4A8_HUMAN pepwindow swissprot:S4A8_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S4A8_HUMAN sigcleave swissprot:S4A8_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S4A8_HUMAN ## Database ID URL or Descriptions # AltName GBRP_HUMAN GABA(A) receptor subunit pi # ChiTaRS GABRP human # DrugBank DB00186 Lorazepam # DrugBank DB00189 Ethchlorvynol # DrugBank DB00228 Enflurane # DrugBank DB00231 Temazepam # DrugBank DB00237 Butabarbital # DrugBank DB00241 Butalbital # DrugBank DB00273 Topiramate # DrugBank DB00292 Etomidate # DrugBank DB00306 Talbutal # DrugBank DB00312 Pentobarbital # DrugBank DB00334 Olanzapine # DrugBank DB00349 Clobazam # DrugBank DB00371 Meprobamate # DrugBank DB00402 Eszopiclone # DrugBank DB00404 Alprazolam # DrugBank DB00475 Chlordiazepoxide # DrugBank DB00543 Amoxapine # DrugBank DB00546 Adinazolam # DrugBank DB00628 Clorazepate # DrugBank DB00659 Acamprosate # DrugBank DB00683 Midazolam # DrugBank DB00690 Flurazepam # DrugBank DB00753 Isoflurane # DrugBank DB00794 Primidone # DrugBank DB00801 Halazepam # DrugBank DB00818 Propofol # DrugBank DB00829 Diazepam # DrugBank DB00842 Oxazepam # DrugBank DB00897 Triazolam # DrugBank DB00898 Ethanol # DrugBank DB01028 Methoxyflurane # DrugBank DB01049 Ergoloid mesylate # DrugBank DB01068 Clonazepam # DrugBank DB01107 Methyprylon # DrugBank DB01159 Halothane # DrugBank DB01189 Desflurane # DrugBank DB01205 Flumazenil # DrugBank DB01215 Estazolam # DrugBank DB01236 Sevoflurane # DrugBank DB01437 Glutethimide # DrugBank DB01558 Bromazepam # DrugBank DB01559 Clotiazepam # DrugBank DB01567 Fludiazepam # DrugBank DB01588 Prazepam # DrugBank DB01589 Quazepam # DrugBank DB01594 Cinolazepam # DrugBank DB01595 Nitrazepam # Ensembl ENST00000265294 ENSP00000265294; ENSG00000094755 # Ensembl ENST00000518525 ENSP00000430100; ENSG00000094755 # ExpressionAtlas O00591 baseline and differential # FUNCTION GBRP_HUMAN GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel. In the uterus, the function of the receptor appears to be related to tissue contractility. The binding of this pI subunit with other GABA(A) receptor subunits alters the sensitivity of recombinant receptors to modulatory agents such as pregnanolone. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0034707 chloride channel complex; IEA:UniProtKB-KW. # GO_component GO:0045211 postsynaptic membrane; IEA:UniProtKB-SubCell. # GO_function GO:0004890 GABA-A receptor activity; TAS:ProtInc. # GO_function GO:0008068 extracellular-glutamate-gated chloride channel activity; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # Gene3D 2.70.170.10 -; 1. # Genevisible O00591 HS # HGNC HGNC:4089 GABRP # InterPro IPR006028 GABAA/Glycine_rcpt # InterPro IPR006029 Neurotrans-gated_channel_TM # InterPro IPR006201 Neur_channel # InterPro IPR006202 Neur_chan_lig-bd # InterPro IPR008100 GABAAp_rcpt # InterPro IPR018000 Neurotransmitter_ion_chnl_CS # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04080 Neuroactive ligand-receptor interaction # KEGG_Pathway ko04723 Retrograde endocannabinoid signaling # KEGG_Pathway ko04727 GABAergic synapse # KEGG_Pathway ko05032 Morphine addiction # KEGG_Pathway ko05033 Nicotine addiction # MIM 602729 gene # Organism GBRP_HUMAN Homo sapiens (Human) # PANTHER PTHR18945 PTHR18945 # PRINTS PR00252 NRIONCHANNEL # PRINTS PR00253 GABAARECEPTR # PRINTS PR01724 GABAARPI # PROSITE PS00236 NEUROTR_ION_CHANNEL # Pfam PF02931 Neur_chan_LBD # Pfam PF02932 Neur_chan_memb # Proteomes UP000005640 Chromosome 5 # RecName GBRP_HUMAN Gamma-aminobutyric acid receptor subunit pi # RefSeq NP_001278914 NM_001291985.1 # RefSeq NP_055026 NM_014211.2 # SIMILARITY Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRP sub-subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION GBRP_HUMAN Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. # SUBUNIT Generally pentameric. There are five types of GABA(A) receptor chains: alpha, beta, gamma, delta, and epsilon. A sixth class of subunit Rho form homomeric GABA receptors that do not appear to coexist with GABA(A) receptor subunits but with GABA(C) receptor subunits. Subunit Pi can also bind this complex. # SUPFAM SSF63712 SSF63712 # SUPFAM SSF90112 SSF90112 # TIGRFAMs TIGR00860 LIC # TISSUE SPECIFICITY GBRP_HUMAN Most abundant in the uterus, also expressed in lung, thymus and prostate. # UCSC uc003mau human # eggNOG ENOG410XPWH LUCA # eggNOG KOG3643 Eukaryota BLAST swissprot:GBRP_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:GBRP_HUMAN BioCyc ZFISH:ENSG00000094755-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000094755-MONOMER COXPRESdb 2568 http://coxpresdb.jp/data/gene/2568.shtml CleanEx HS_GABRP http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_GABRP DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.272.24.15346 http://dx.doi.org/10.1074/jbc.272.24.15346 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1133427 http://dx.doi.org/10.1126/science.1133427 DrugBank DB00186 http://www.drugbank.ca/drugs/DB00186 DrugBank DB00189 http://www.drugbank.ca/drugs/DB00189 DrugBank DB00228 http://www.drugbank.ca/drugs/DB00228 DrugBank DB00231 http://www.drugbank.ca/drugs/DB00231 DrugBank DB00237 http://www.drugbank.ca/drugs/DB00237 DrugBank DB00241 http://www.drugbank.ca/drugs/DB00241 DrugBank DB00273 http://www.drugbank.ca/drugs/DB00273 DrugBank DB00292 http://www.drugbank.ca/drugs/DB00292 DrugBank DB00306 http://www.drugbank.ca/drugs/DB00306 DrugBank DB00312 http://www.drugbank.ca/drugs/DB00312 DrugBank DB00334 http://www.drugbank.ca/drugs/DB00334 DrugBank DB00349 http://www.drugbank.ca/drugs/DB00349 DrugBank DB00371 http://www.drugbank.ca/drugs/DB00371 DrugBank DB00402 http://www.drugbank.ca/drugs/DB00402 DrugBank DB00404 http://www.drugbank.ca/drugs/DB00404 DrugBank DB00475 http://www.drugbank.ca/drugs/DB00475 DrugBank DB00543 http://www.drugbank.ca/drugs/DB00543 DrugBank DB00546 http://www.drugbank.ca/drugs/DB00546 DrugBank DB00628 http://www.drugbank.ca/drugs/DB00628 DrugBank DB00659 http://www.drugbank.ca/drugs/DB00659 DrugBank DB00683 http://www.drugbank.ca/drugs/DB00683 DrugBank DB00690 http://www.drugbank.ca/drugs/DB00690 DrugBank DB00753 http://www.drugbank.ca/drugs/DB00753 DrugBank DB00794 http://www.drugbank.ca/drugs/DB00794 DrugBank DB00801 http://www.drugbank.ca/drugs/DB00801 DrugBank DB00818 http://www.drugbank.ca/drugs/DB00818 DrugBank DB00829 http://www.drugbank.ca/drugs/DB00829 DrugBank DB00842 http://www.drugbank.ca/drugs/DB00842 DrugBank DB00897 http://www.drugbank.ca/drugs/DB00897 DrugBank DB00898 http://www.drugbank.ca/drugs/DB00898 DrugBank DB01028 http://www.drugbank.ca/drugs/DB01028 DrugBank DB01049 http://www.drugbank.ca/drugs/DB01049 DrugBank DB01068 http://www.drugbank.ca/drugs/DB01068 DrugBank DB01107 http://www.drugbank.ca/drugs/DB01107 DrugBank DB01159 http://www.drugbank.ca/drugs/DB01159 DrugBank DB01189 http://www.drugbank.ca/drugs/DB01189 DrugBank DB01205 http://www.drugbank.ca/drugs/DB01205 DrugBank DB01215 http://www.drugbank.ca/drugs/DB01215 DrugBank DB01236 http://www.drugbank.ca/drugs/DB01236 DrugBank DB01437 http://www.drugbank.ca/drugs/DB01437 DrugBank DB01558 http://www.drugbank.ca/drugs/DB01558 DrugBank DB01559 http://www.drugbank.ca/drugs/DB01559 DrugBank DB01567 http://www.drugbank.ca/drugs/DB01567 DrugBank DB01588 http://www.drugbank.ca/drugs/DB01588 DrugBank DB01589 http://www.drugbank.ca/drugs/DB01589 DrugBank DB01594 http://www.drugbank.ca/drugs/DB01594 DrugBank DB01595 http://www.drugbank.ca/drugs/DB01595 EMBL AF009694 http://www.ebi.ac.uk/ena/data/view/AF009694 EMBL AF009695 http://www.ebi.ac.uk/ena/data/view/AF009695 EMBL AF009696 http://www.ebi.ac.uk/ena/data/view/AF009696 EMBL AF009697 http://www.ebi.ac.uk/ena/data/view/AF009697 EMBL AF009698 http://www.ebi.ac.uk/ena/data/view/AF009698 EMBL AF009699 http://www.ebi.ac.uk/ena/data/view/AF009699 EMBL AF009700 http://www.ebi.ac.uk/ena/data/view/AF009700 EMBL AF009701 http://www.ebi.ac.uk/ena/data/view/AF009701 EMBL AF009702 http://www.ebi.ac.uk/ena/data/view/AF009702 EMBL AK292901 http://www.ebi.ac.uk/ena/data/view/AK292901 EMBL BC074810 http://www.ebi.ac.uk/ena/data/view/BC074810 EMBL BC074865 http://www.ebi.ac.uk/ena/data/view/BC074865 EMBL BC109105 http://www.ebi.ac.uk/ena/data/view/BC109105 EMBL BC109106 http://www.ebi.ac.uk/ena/data/view/BC109106 EMBL CH471062 http://www.ebi.ac.uk/ena/data/view/CH471062 EMBL CH471062 http://www.ebi.ac.uk/ena/data/view/CH471062 EMBL U95367 http://www.ebi.ac.uk/ena/data/view/U95367 Ensembl ENST00000265294 http://www.ensembl.org/id/ENST00000265294 Ensembl ENST00000518525 http://www.ensembl.org/id/ENST00000518525 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0034707 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034707 GO_component GO:0045211 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045211 GO_function GO:0004890 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004890 GO_function GO:0008068 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008068 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 Gene3D 2.70.170.10 http://www.cathdb.info/version/latest/superfamily/2.70.170.10 GeneCards GABRP http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=GABRP GeneID 2568 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=2568 GeneTree ENSGT00760000118821 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118821 HGNC HGNC:4089 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:4089 HOGENOM HOG000231335 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231335&db=HOGENOM6 HOVERGEN HBG051707 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG051707&db=HOVERGEN HPA CAB014883 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB014883 InParanoid O00591 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O00591 InterPro IPR006028 http://www.ebi.ac.uk/interpro/entry/IPR006028 InterPro IPR006029 http://www.ebi.ac.uk/interpro/entry/IPR006029 InterPro IPR006201 http://www.ebi.ac.uk/interpro/entry/IPR006201 InterPro IPR006202 http://www.ebi.ac.uk/interpro/entry/IPR006202 InterPro IPR008100 http://www.ebi.ac.uk/interpro/entry/IPR008100 InterPro IPR018000 http://www.ebi.ac.uk/interpro/entry/IPR018000 Jabion 2568 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=2568 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:2568 http://www.genome.jp/dbget-bin/www_bget?hsa:2568 KEGG_Orthology KO:K05189 http://www.genome.jp/dbget-bin/www_bget?KO:K05189 KEGG_Pathway ko04080 http://www.genome.jp/kegg-bin/show_pathway?ko04080 KEGG_Pathway ko04723 http://www.genome.jp/kegg-bin/show_pathway?ko04723 KEGG_Pathway ko04727 http://www.genome.jp/kegg-bin/show_pathway?ko04727 KEGG_Pathway ko05032 http://www.genome.jp/kegg-bin/show_pathway?ko05032 KEGG_Pathway ko05033 http://www.genome.jp/kegg-bin/show_pathway?ko05033 MIM 602729 http://www.ncbi.nlm.nih.gov/omim/602729 OMA NDVEFSW http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=NDVEFSW OrthoDB EOG091G0805 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0805 PANTHER PTHR18945 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR18945 PRINTS PR00252 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00252 PRINTS PR00253 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00253 PRINTS PR01724 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01724 PROSITE PS00236 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00236 PSORT swissprot:GBRP_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:GBRP_HUMAN PSORT-B swissprot:GBRP_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:GBRP_HUMAN PSORT2 swissprot:GBRP_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:GBRP_HUMAN Pfam PF02931 http://pfam.xfam.org/family/PF02931 Pfam PF02932 http://pfam.xfam.org/family/PF02932 PharmGKB PA28503 http://www.pharmgkb.org/do/serve?objId=PA28503&objCls=Gene Phobius swissprot:GBRP_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:GBRP_HUMAN PhylomeDB O00591 http://phylomedb.org/?seqid=O00591 ProteinModelPortal O00591 http://www.proteinmodelportal.org/query/uniprot/O00591 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16959974 http://www.ncbi.nlm.nih.gov/pubmed/16959974 PubMed 9182563 http://www.ncbi.nlm.nih.gov/pubmed/9182563 RefSeq NP_001278914 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001278914 RefSeq NP_055026 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_055026 STRING 9606.ENSP00000265294 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000265294&targetmode=cogs SUPFAM SSF63712 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF63712 SUPFAM SSF90112 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF90112 TIGRFAMs TIGR00860 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00860 UCSC uc003mau http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003mau&org=rat UniGene Hs.26225 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.26225 UniProtKB GBRP_HUMAN http://www.uniprot.org/uniprot/GBRP_HUMAN UniProtKB-AC O00591 http://www.uniprot.org/uniprot/O00591 charge swissprot:GBRP_HUMAN http://rest.g-language.org/emboss/charge/swissprot:GBRP_HUMAN eggNOG ENOG410XPWH http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XPWH eggNOG KOG3643 http://eggnogapi.embl.de/nog_data/html/tree/KOG3643 epestfind swissprot:GBRP_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:GBRP_HUMAN garnier swissprot:GBRP_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:GBRP_HUMAN helixturnhelix swissprot:GBRP_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:GBRP_HUMAN hmoment swissprot:GBRP_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:GBRP_HUMAN iep swissprot:GBRP_HUMAN http://rest.g-language.org/emboss/iep/swissprot:GBRP_HUMAN inforesidue swissprot:GBRP_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:GBRP_HUMAN neXtProt NX_O00591 http://www.nextprot.org/db/entry/NX_O00591 octanol swissprot:GBRP_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:GBRP_HUMAN pepcoil swissprot:GBRP_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:GBRP_HUMAN pepdigest swissprot:GBRP_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:GBRP_HUMAN pepinfo swissprot:GBRP_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:GBRP_HUMAN pepnet swissprot:GBRP_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:GBRP_HUMAN pepstats swissprot:GBRP_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:GBRP_HUMAN pepwheel swissprot:GBRP_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:GBRP_HUMAN pepwindow swissprot:GBRP_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:GBRP_HUMAN sigcleave swissprot:GBRP_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:GBRP_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS TRPC7_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9HCX4-1; Sequence=Displayed; Name=2; IsoId=Q9HCX4-2; Sequence=VSP_043035; Note=No experimental confirmation available.; Name=3; IsoId=Q9HCX4-3; Sequence=VSP_044897; Note=No experimental confirmation available.; # AltName TRPC7_HUMAN Transient receptor protein 7 # BioGrid 121378 4 # CCDS CCDS47267 -. [Q9HCX4-1] # CCDS CCDS54905 -. [Q9HCX4-2] # CCDS CCDS54906 -. [Q9HCX4-3] # ChiTaRS TRPC7 human # Ensembl ENST00000352189 ENSP00000330322; ENSG00000069018. [Q9HCX4-2] # Ensembl ENST00000378459 ENSP00000367720; ENSG00000069018. [Q9HCX4-3] # Ensembl ENST00000513104 ENSP00000426070; ENSG00000069018. [Q9HCX4-1] # ExpressionAtlas Q9HCX4 baseline and differential # FUNCTION TRPC7_HUMAN Thought to form a receptor-activated non-selective calcium permeant cation channel. Probably is operated by a phosphatidylinositol second messenger system activated by receptor tyrosine kinases or G-protein coupled receptors. Activated by diacylglycerol (DAG) (By similarity). May also be activated by intracellular calcium store depletion. {ECO 0000250}. # GO_component GO:0005635 nuclear envelope; IEA:UniProtKB-SubCell. # GO_component GO:0005801 cis-Golgi network; IEA:Ensembl. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0048471 perinuclear region of cytoplasm; IEA:Ensembl. # GO_function GO:0005262 calcium channel activity; TAS:Reactome. # GO_function GO:0015279 store-operated calcium channel activity; IBA:GO_Central. # GO_process GO:0006828 manganese ion transport; IBA:GO_Central. # GO_process GO:0007338 single fertilization; IBA:GO_Central. # GO_process GO:0030168 platelet activation; TAS:Reactome. # GO_process GO:0051480 regulation of cytosolic calcium ion concentration; IBA:GO_Central. # GO_process GO:0070588 calcium ion transmembrane transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005635 nuclear envelope # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.25.40.20 -; 1. # Genevisible Q9HCX4 HS # HGNC HGNC:20754 TRPC7 # InterPro IPR002110 Ankyrin_rpt # InterPro IPR002153 TRPC_channel # InterPro IPR004729 TRP_channel # InterPro IPR005463 TRPC7_channel # InterPro IPR005821 Ion_trans_dom # InterPro IPR013555 TRP_dom # InterPro IPR020683 Ankyrin_rpt-contain_dom # KEGG_Brite ko04040 Ion channels # Organism TRPC7_HUMAN Homo sapiens (Human) # PANTHER PTHR10117 PTHR10117 # PANTHER PTHR10117:SF9 PTHR10117:SF9 # PRINTS PR01097 TRNSRECEPTRP # PRINTS PR01648 TRPCHANNEL7 # PTM TRPC7_HUMAN Phosphorylation by PRKG1 at Thr-15 negatively regulates TRPC7 activity. {ECO 0000269|PubMed 21402151}. # Pfam PF00520 Ion_trans # Pfam PF08344 TRP_2 # Pfam PF12796 Ank_2 # Proteomes UP000005640 Chromosome 5 # Reactome R-HSA-114508 Effects of PIP2 hydrolysis # Reactome R-HSA-139853 Elevation of cytosolic Ca2+ levels # Reactome R-HSA-3295583 TRP channels # Reactome R-HSA-418890 Role of second messengers in netrin-1 signaling # RecName TRPC7_HUMAN Short transient receptor potential channel 7 # RefSeq NP_001161048 NM_001167576.1. [Q9HCX4-2] # RefSeq NP_001161049 NM_001167577.1. [Q9HCX4-3] # RefSeq NP_065122 NM_020389.2. [Q9HCX4-1] # SIMILARITY Belongs to the transient receptor (TC 1.A.4) family. STrpC subfamily. TRPC7 sub-subfamily. {ECO 0000305}. # SIMILARITY Contains 4 ANK repeats. {ECO 0000305}. # SMART SM00248 ANK; 3 # SUBCELLULAR LOCATION TRPC7_HUMAN Cell membrane {ECO 0000269|PubMed 21402151}; Multi-pass membrane protein {ECO 0000269|PubMed 21402151}. Nucleus envelope {ECO 0000269|PubMed 21402151}. # SUBUNIT TRPC7_HUMAN Interacts with MX1 and RNF24. Interacts (via ANK-repeat domains) with PRKG1. {ECO 0000269|PubMed 15757897, ECO 0000269|PubMed 17850865, ECO 0000269|PubMed 21402151}. # SUPFAM SSF48403 SSF48403 # TIGRFAMs TIGR00870 trp # UCSC uc003lbn human. [Q9HCX4-1] # eggNOG ENOG410XQ0Y LUCA # eggNOG KOG3609 Eukaryota BLAST swissprot:TRPC7_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:TRPC7_HUMAN BioCyc ZFISH:ENSG00000069018-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000069018-MONOMER COXPRESdb 57113 http://coxpresdb.jp/data/gene/57113.shtml CleanEx HS_TRPC7 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_TRPC7 DOI 10.1016/j.ceca.2007.07.009 http://dx.doi.org/10.1016/j.ceca.2007.07.009 DOI 10.1016/j.cellsig.2011.03.005 http://dx.doi.org/10.1016/j.cellsig.2011.03.005 DOI 10.1038/nature02919 http://dx.doi.org/10.1038/nature02919 DOI 10.1074/jbc.M500391200 http://dx.doi.org/10.1074/jbc.M500391200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AC008661 http://www.ebi.ac.uk/ena/data/view/AC008661 EMBL AJ272034 http://www.ebi.ac.uk/ena/data/view/AJ272034 EMBL AJ549088 http://www.ebi.ac.uk/ena/data/view/AJ549088 EMBL AY167927 http://www.ebi.ac.uk/ena/data/view/AY167927 EMBL BC128185 http://www.ebi.ac.uk/ena/data/view/BC128185 Ensembl ENST00000352189 http://www.ensembl.org/id/ENST00000352189 Ensembl ENST00000378459 http://www.ensembl.org/id/ENST00000378459 Ensembl ENST00000513104 http://www.ensembl.org/id/ENST00000513104 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005635 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005635 GO_component GO:0005801 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005801 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0048471 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048471 GO_function GO:0005262 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005262 GO_function GO:0015279 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015279 GO_process GO:0006828 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006828 GO_process GO:0007338 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007338 GO_process GO:0030168 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030168 GO_process GO:0051480 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051480 GO_process GO:0070588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070588 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005635 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005635 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.25.40.20 http://www.cathdb.info/version/latest/superfamily/1.25.40.20 GeneCards TRPC7 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=TRPC7 GeneID 57113 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=57113 GeneTree ENSGT00760000119180 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119180 HGNC HGNC:20754 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:20754 HOGENOM HOG000020590 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000020590&db=HOGENOM6 HOVERGEN HBG068337 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG068337&db=HOVERGEN HPA CAB022592 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB022592 HPA HPA031126 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA031126 InParanoid Q9HCX4 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9HCX4 IntAct Q9HCX4 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9HCX4* InterPro IPR002110 http://www.ebi.ac.uk/interpro/entry/IPR002110 InterPro IPR002153 http://www.ebi.ac.uk/interpro/entry/IPR002153 InterPro IPR004729 http://www.ebi.ac.uk/interpro/entry/IPR004729 InterPro IPR005463 http://www.ebi.ac.uk/interpro/entry/IPR005463 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR013555 http://www.ebi.ac.uk/interpro/entry/IPR013555 InterPro IPR020683 http://www.ebi.ac.uk/interpro/entry/IPR020683 Jabion 57113 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=57113 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:57113 http://www.genome.jp/dbget-bin/www_bget?hsa:57113 KEGG_Orthology KO:K04970 http://www.genome.jp/dbget-bin/www_bget?KO:K04970 OMA GSNTFKN http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=GSNTFKN OrthoDB EOG091G01FB http://cegg.unige.ch/orthodb/results?searchtext=EOG091G01FB PANTHER PTHR10117 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10117 PANTHER PTHR10117:SF9 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10117:SF9 PRINTS PR01097 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01097 PRINTS PR01648 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01648 PSORT swissprot:TRPC7_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:TRPC7_HUMAN PSORT-B swissprot:TRPC7_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:TRPC7_HUMAN PSORT2 swissprot:TRPC7_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:TRPC7_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF08344 http://pfam.xfam.org/family/PF08344 Pfam PF12796 http://pfam.xfam.org/family/PF12796 PharmGKB PA164742693 http://www.pharmgkb.org/do/serve?objId=PA164742693&objCls=Gene Phobius swissprot:TRPC7_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:TRPC7_HUMAN PhylomeDB Q9HCX4 http://phylomedb.org/?seqid=Q9HCX4 ProteinModelPortal Q9HCX4 http://www.proteinmodelportal.org/query/uniprot/Q9HCX4 PubMed 15372022 http://www.ncbi.nlm.nih.gov/pubmed/15372022 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15757897 http://www.ncbi.nlm.nih.gov/pubmed/15757897 PubMed 17850865 http://www.ncbi.nlm.nih.gov/pubmed/17850865 PubMed 21402151 http://www.ncbi.nlm.nih.gov/pubmed/21402151 Reactome R-HSA-114508 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-114508 Reactome R-HSA-139853 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-139853 Reactome R-HSA-3295583 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-3295583 Reactome R-HSA-418890 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-418890 RefSeq NP_001161048 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001161048 RefSeq NP_001161049 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001161049 RefSeq NP_065122 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_065122 SMART SM00248 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00248 STRING 9606.ENSP00000426070 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000426070&targetmode=cogs SUPFAM SSF48403 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48403 TIGRFAMs TIGR00870 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00870 UCSC uc003lbn http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003lbn&org=rat UniGene Hs.591263 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.591263 UniProtKB TRPC7_HUMAN http://www.uniprot.org/uniprot/TRPC7_HUMAN UniProtKB-AC Q9HCX4 http://www.uniprot.org/uniprot/Q9HCX4 charge swissprot:TRPC7_HUMAN http://rest.g-language.org/emboss/charge/swissprot:TRPC7_HUMAN eggNOG ENOG410XQ0Y http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XQ0Y eggNOG KOG3609 http://eggnogapi.embl.de/nog_data/html/tree/KOG3609 epestfind swissprot:TRPC7_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:TRPC7_HUMAN garnier swissprot:TRPC7_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:TRPC7_HUMAN helixturnhelix swissprot:TRPC7_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:TRPC7_HUMAN hmoment swissprot:TRPC7_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:TRPC7_HUMAN iep swissprot:TRPC7_HUMAN http://rest.g-language.org/emboss/iep/swissprot:TRPC7_HUMAN inforesidue swissprot:TRPC7_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:TRPC7_HUMAN neXtProt NX_Q9HCX4 http://www.nextprot.org/db/entry/NX_Q9HCX4 octanol swissprot:TRPC7_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:TRPC7_HUMAN pepcoil swissprot:TRPC7_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:TRPC7_HUMAN pepdigest swissprot:TRPC7_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:TRPC7_HUMAN pepinfo swissprot:TRPC7_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:TRPC7_HUMAN pepnet swissprot:TRPC7_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:TRPC7_HUMAN pepstats swissprot:TRPC7_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:TRPC7_HUMAN pepwheel swissprot:TRPC7_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:TRPC7_HUMAN pepwindow swissprot:TRPC7_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:TRPC7_HUMAN sigcleave swissprot:TRPC7_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:TRPC7_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS TPC_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9HC21-1; Sequence=Displayed; Name=2; IsoId=Q9HC21-2; Sequence=VSP_053908; # AltName TPC_HUMAN Mitochondrial uncoupling protein 1 # AltName TPC_HUMAN Solute carrier family 25 member 19 # BioGrid 121903 16 # CCDS CCDS11720 -. [Q9HC21-1] # DISEASE TPC_HUMAN Microcephaly, Amish type (MCPHA) [MIM 607196] A disorder characterized by severe congenital microcephaly and severe 2- ketoglutaric aciduria leading to death within the first year. {ECO 0000269|PubMed 12185364}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE TPC_HUMAN Thiamine metabolism dysfunction syndrome 4, bilateral striatal degeneration and progressive polyneuropathy type (THMD4) [MIM 613710] A disease characterized by recurrent episodes of flaccid paralysis and encephalopathy associated with bilateral striatal necrosis and chronic progressive polyneuropathy. {ECO 0000269|PubMed 19798730}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000320362 ENSP00000319574; ENSG00000125454. [Q9HC21-1] # Ensembl ENST00000375261 ENSP00000364410; ENSG00000125454. [Q9HC21-2] # Ensembl ENST00000402418 ENSP00000385312; ENSG00000125454. [Q9HC21-1] # Ensembl ENST00000416858 ENSP00000397818; ENSG00000125454. [Q9HC21-1] # Ensembl ENST00000442286 ENSP00000402202; ENSG00000125454. [Q9HC21-1] # Ensembl ENST00000580994 ENSP00000463795; ENSG00000125454. [Q9HC21-1] # ExpressionAtlas Q9HC21 baseline and differential # FUNCTION TPC_HUMAN Mitochondrial transporter mediating uptake of thiamine pyrophosphate (ThPP) into mitochondria. {ECO 0000269|PubMed 18280798}. # GO_component GO:0005634 nucleus; IDA:UniProtKB. # GO_component GO:0005743 mitochondrial inner membrane; IEA:UniProtKB-SubCell. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0030233 deoxynucleotide transmembrane transporter activity; TAS:UniProtKB. # GO_process GO:0030302 deoxynucleotide transport; NAS:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005634 nucleus # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # Gene3D 1.50.40.10 -; 1. # Genevisible Q9HC21 HS # HGNC HGNC:14409 SLC25A19 # IntAct Q9HC21 16 # InterPro IPR002067 Mit_carrier # InterPro IPR018108 Mitochondrial_sb/sol_carrier # InterPro IPR023395 Mt_carrier_dom # KEGG_Brite ko02001 Solute carrier family # KEGG_Disease H00990 [Developmental disorder] Microcephaly, Amish type # MIM 606521 gene # MIM 607196 phenotype # MIM 613710 phenotype # MISCELLANEOUS The transmembrane helices are not perpendicular to the plane of the membrane, but cross the membrane at an angle. Odd-numbered transmembrane helices exhibit a sharp kink, due to the presence of a conserved proline residue (By similarity). {ECO 0000250}. # Organism TPC_HUMAN Homo sapiens (Human) # Orphanet 217396 Progressive demyelinating neuropathy with bilateral striatal necrosis # Orphanet 99742 Amish lethal microcephaly # PRINTS PR00926 MITOCARRIER # PROSITE PS50920 SOLCAR; 3 # Pfam PF00153 Mito_carr; 3 # Proteomes UP000005640 Chromosome 17 # Reactome R-HSA-196819 Vitamin B1 (thiamin) metabolism # RecName TPC_HUMAN Mitochondrial thiamine pyrophosphate carrier # RefSeq NP_001119593 NM_001126121.1. [Q9HC21-1] # RefSeq NP_001119594 NM_001126122.1. [Q9HC21-1] # RefSeq NP_068380 NM_021734.4. [Q9HC21-1] # RefSeq XP_005257616 XM_005257559.3. [Q9HC21-1] # RefSeq XP_005257617 XM_005257560.2. [Q9HC21-1] # RefSeq XP_005257618 XM_005257561.3. [Q9HC21-1] # RefSeq XP_005257619 XM_005257562.2. [Q9HC21-1] # RefSeq XP_006722070 XM_006722007.2. [Q9HC21-1] # RefSeq XP_016880415 XM_017024926.1. [Q9HC21-1] # SIMILARITY Belongs to the mitochondrial carrier (TC 2.A.29) family. {ECO 0000305}. # SIMILARITY Contains 3 Solcar repeats. {ECO:0000255|PROSITE- ProRule PRU00282}. # SUBCELLULAR LOCATION TPC_HUMAN Mitochondrion inner membrane; Multi-pass membrane protein. # SUPFAM SSF103506 SSF103506 # TCDB 2.A.29.16 the mitochondrial carrier (mc) family # TISSUE SPECIFICITY Expressed in all tissues examined except for placenta. Highest levels in colon, kidney, lung, testis, spleen, and brain. {ECO:0000269|PubMed 11226231}. # UCSC uc002jns human. [Q9HC21-1] # eggNOG ENOG410ZRF1 LUCA # eggNOG KOG0752 Eukaryota BLAST swissprot:TPC_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:TPC_HUMAN BioCyc ZFISH:ENSG00000125454-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000125454-MONOMER COXPRESdb 60386 http://coxpresdb.jp/data/gene/60386.shtml CleanEx HS_SLC25A19 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC25A19 DOI 10.1002/ana.21752 http://dx.doi.org/10.1002/ana.21752 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1016/j.mito.2008.01.001 http://dx.doi.org/10.1016/j.mito.2008.01.001 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature04689 http://dx.doi.org/10.1038/nature04689 DOI 10.1038/ng948 http://dx.doi.org/10.1038/ng948 DOI 10.1073/pnas.031430998 http://dx.doi.org/10.1073/pnas.031430998 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AC022211 http://www.ebi.ac.uk/ena/data/view/AC022211 EMBL AF182404 http://www.ebi.ac.uk/ena/data/view/AF182404 EMBL AJ251857 http://www.ebi.ac.uk/ena/data/view/AJ251857 EMBL AJ301616 http://www.ebi.ac.uk/ena/data/view/AJ301616 EMBL AY346372 http://www.ebi.ac.uk/ena/data/view/AY346372 EMBL BC001075 http://www.ebi.ac.uk/ena/data/view/BC001075 EMBL BC005120 http://www.ebi.ac.uk/ena/data/view/BC005120 Ensembl ENST00000320362 http://www.ensembl.org/id/ENST00000320362 Ensembl ENST00000375261 http://www.ensembl.org/id/ENST00000375261 Ensembl ENST00000402418 http://www.ensembl.org/id/ENST00000402418 Ensembl ENST00000416858 http://www.ensembl.org/id/ENST00000416858 Ensembl ENST00000442286 http://www.ensembl.org/id/ENST00000442286 Ensembl ENST00000580994 http://www.ensembl.org/id/ENST00000580994 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0030233 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030233 GO_process GO:0030302 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030302 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 Gene3D 1.50.40.10 http://www.cathdb.info/version/latest/superfamily/1.50.40.10 GeneCards SLC25A19 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC25A19 GeneID 60386 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=60386 GeneTree ENSGT00550000074902 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074902 HGNC HGNC:14409 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:14409 HOGENOM HOG000165726 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000165726&db=HOGENOM6 HOVERGEN HBG105731 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG105731&db=HOVERGEN InParanoid Q9HC21 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9HC21 IntAct Q9HC21 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9HC21* InterPro IPR002067 http://www.ebi.ac.uk/interpro/entry/IPR002067 InterPro IPR018108 http://www.ebi.ac.uk/interpro/entry/IPR018108 InterPro IPR023395 http://www.ebi.ac.uk/interpro/entry/IPR023395 Jabion 60386 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=60386 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Disease H00990 http://www.genome.jp/dbget-bin/www_bget?H00990 KEGG_Gene hsa:60386 http://www.genome.jp/dbget-bin/www_bget?hsa:60386 KEGG_Orthology KO:K15108 http://www.genome.jp/dbget-bin/www_bget?KO:K15108 MIM 606521 http://www.ncbi.nlm.nih.gov/omim/606521 MIM 607196 http://www.ncbi.nlm.nih.gov/omim/607196 MIM 613710 http://www.ncbi.nlm.nih.gov/omim/613710 OMA VQFVTFE http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=VQFVTFE Orphanet 217396 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=217396 Orphanet 99742 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=99742 OrthoDB EOG091G0FNV http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0FNV PRINTS PR00926 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00926 PROSITE PS50920 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50920 PSORT swissprot:TPC_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:TPC_HUMAN PSORT-B swissprot:TPC_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:TPC_HUMAN PSORT2 swissprot:TPC_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:TPC_HUMAN Pfam PF00153 http://pfam.xfam.org/family/PF00153 PharmGKB PA37879 http://www.pharmgkb.org/do/serve?objId=PA37879&objCls=Gene Phobius swissprot:TPC_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:TPC_HUMAN PhylomeDB Q9HC21 http://phylomedb.org/?seqid=Q9HC21 ProteinModelPortal Q9HC21 http://www.proteinmodelportal.org/query/uniprot/Q9HC21 PubMed 11226231 http://www.ncbi.nlm.nih.gov/pubmed/11226231 PubMed 12185364 http://www.ncbi.nlm.nih.gov/pubmed/12185364 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16625196 http://www.ncbi.nlm.nih.gov/pubmed/16625196 PubMed 18280798 http://www.ncbi.nlm.nih.gov/pubmed/18280798 PubMed 19798730 http://www.ncbi.nlm.nih.gov/pubmed/19798730 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 Reactome R-HSA-196819 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-196819 RefSeq NP_001119593 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001119593 RefSeq NP_001119594 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001119594 RefSeq NP_068380 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_068380 RefSeq XP_005257616 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005257616 RefSeq XP_005257617 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005257617 RefSeq XP_005257618 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005257618 RefSeq XP_005257619 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005257619 RefSeq XP_006722070 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006722070 RefSeq XP_016880415 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016880415 STRING 9606.ENSP00000319574 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000319574&targetmode=cogs SUPFAM SSF103506 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103506 TCDB 2.A.29.16 http://www.tcdb.org/search/result.php?tc=2.A.29.16 UCSC uc002jns http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002jns&org=rat UniGene Hs.514470 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.514470 UniProtKB TPC_HUMAN http://www.uniprot.org/uniprot/TPC_HUMAN UniProtKB-AC Q9HC21 http://www.uniprot.org/uniprot/Q9HC21 charge swissprot:TPC_HUMAN http://rest.g-language.org/emboss/charge/swissprot:TPC_HUMAN eggNOG ENOG410ZRF1 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410ZRF1 eggNOG KOG0752 http://eggnogapi.embl.de/nog_data/html/tree/KOG0752 epestfind swissprot:TPC_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:TPC_HUMAN garnier swissprot:TPC_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:TPC_HUMAN helixturnhelix swissprot:TPC_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:TPC_HUMAN hmoment swissprot:TPC_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:TPC_HUMAN iep swissprot:TPC_HUMAN http://rest.g-language.org/emboss/iep/swissprot:TPC_HUMAN inforesidue swissprot:TPC_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:TPC_HUMAN neXtProt NX_Q9HC21 http://www.nextprot.org/db/entry/NX_Q9HC21 octanol swissprot:TPC_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:TPC_HUMAN pepcoil swissprot:TPC_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:TPC_HUMAN pepdigest swissprot:TPC_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:TPC_HUMAN pepinfo swissprot:TPC_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:TPC_HUMAN pepnet swissprot:TPC_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:TPC_HUMAN pepstats swissprot:TPC_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:TPC_HUMAN pepwheel swissprot:TPC_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:TPC_HUMAN pepwindow swissprot:TPC_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:TPC_HUMAN sigcleave swissprot:TPC_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:TPC_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q5JTJ3-1; Sequence=Displayed; Name=2; IsoId=Q5JTJ3-2; Sequence=VSP_023656; Note=Gene prediction based on EST data.; Name=3; IsoId=Q5JTJ3-3; Sequence=VSP_023655; Note=Gene prediction based on EST data. Initiator Met-1 is removed. Contains a N-acetylalanine at position 2. {ECO:0000244|PubMed 22814378}; # BioGrid 132839 2 # CCDS CCDS31059 -. [Q5JTJ3-1] # CCDS CCDS55690 -. [Q5JTJ3-3] # CDD cd00926 Cyt_c_Oxidase_VIb # DISEASE COA6_HUMAN Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 (CEMCOX4) [MIM 616501] An infantile disorder with a fatal course in the first weeks of life, characterized by hypertrophic cardiomyopathy, left ventricular non-compaction, lactic acidosis, metabolic hypotonia, and mitochondrial complex IV deficiency. {ECO 0000269|PubMed 24549041, ECO 0000269|PubMed 25339201}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000366612 ENSP00000355571; ENSG00000168275. [Q5JTJ3-3] # Ensembl ENST00000366613 ENSP00000355572; ENSG00000168275. [Q5JTJ3-1] # Ensembl ENST00000619305 ENSP00000479686; ENSG00000168275. [Q5JTJ3-3] # ExpressionAtlas Q5JTJ3 baseline and differential # FUNCTION COA6_HUMAN Involved in the maturation of the mitochondrial respiratory chain complex IV subunit MT-CO2/COX2. Thereby, may regulate early steps of complex IV assembly. Mitochondrial respiratory chain complex IV or cytochrome c oxidase is the component of the respiratory chain that catalyzes the transfer of electrons from intermembrane space cytochrome c to molecular oxygen in the matrix and as a consequence contributes to the proton gradient involved in mitochondrial ATP synthesis. May also be required for efficient formation of respiratory supercomplexes comprised of complexes III and IV. {ECO 0000269|PubMed 24549041, ECO 0000269|PubMed 25959673, ECO 0000269|PubMed 26160915}. # GO_component GO:0005739 mitochondrion; ISS:UniProtKB. # GO_component GO:0005758 mitochondrial intermembrane space; IDA:UniProtKB. # GO_component GO:0005886 plasma membrane; IEA:GOC. # GO_function GO:0004129 cytochrome-c oxidase activity; IEA:InterPro. # GO_function GO:0005507 copper ion binding; IDA:UniProtKB. # GO_function GO:0044822 poly(A) RNA binding; IDA:UniProtKB. # GO_process GO:0008535 respiratory chain complex IV assembly; IDA:UniProtKB. # GO_process GO:0042774 plasma membrane ATP synthesis coupled electron transport; IMP:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005739 mitochondrion # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003723 RNA binding # GOslim_function GO:0016491 oxidoreductase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006091 generation of precursor metabolites and energy # GOslim_process GO:0006461 protein complex assembly # Gene3D 1.10.10.140 -; 1. # Genevisible Q5JTJ3 HS # HGNC HGNC:18025 COA6 # IntAct Q5JTJ3 3 # InterPro IPR003213 Cyt_c_oxidase_su6B # MIM 614772 gene # MIM 616501 phenotype # Organism COA6_HUMAN Homo sapiens (Human) # PROSITE PS51808 CHCH # Pfam PF02297 COX6B # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-1268020 Mitochondrial protein import # RecName COA6_HUMAN Cytochrome c oxidase assembly factor 6 homolog # RefSeq NP_001013003 NM_001012985.2. [Q5JTJ3-1] # RefSeq NP_001288662 NM_001301733.1. [Q5JTJ3-3] # SEQUENCE CAUTION Sequence=AAH25793.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAH25793.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the cytochrome c oxidase subunit 6B family. {ECO 0000305}. # SIMILARITY Contains 1 CHCH (coiled coil-helix-coiled coil-helix) domain. {ECO:0000255|PROSITE-ProRule PRU01150}. # SUBCELLULAR LOCATION COA6_HUMAN Mitochondrion intermembrane space {ECO 0000269|PubMed 25339201, ECO 0000269|PubMed 25959673}. # SUBUNIT COA6_HUMAN Interacts with COA1 (PubMed 22356826). Interacts with MT- CO2 (PubMed 25959673). Interacts with SCO2 (PubMed 25959673). Interacts with SCO1 (PubMed 26160915). {ECO 0000269|PubMed 22356826, ECO 0000269|PubMed 25959673, ECO 0000269|PubMed 26160915}. # SUPFAM SSF47694 SSF47694 # UCSC uc001hwc human. [Q5JTJ3-1] # WEB RESOURCE COA6_HUMAN Name=LOVD-Leiden Open Variation Database; Note=cytochrome c oxidase assembly factor 6 homolog (S. cerevisiae) (COA6); URL="http //databases.lovd.nl/shared/genes/COA6"; # eggNOG ENOG41121WM LUCA # eggNOG KOG3057 Eukaryota BLAST swissprot:COA6_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:COA6_HUMAN COXPRESdb 388753 http://coxpresdb.jp/data/gene/388753.shtml CleanEx HS_C1orf31 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_C1orf31 DOI 10.1002/humu.22715 http://dx.doi.org/10.1002/humu.22715 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1016/j.cmet.2015.04.012 http://dx.doi.org/10.1016/j.cmet.2015.04.012 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1073/pnas.1210303109 http://dx.doi.org/10.1073/pnas.1210303109 DOI 10.1093/hmg/ddu069 http://dx.doi.org/10.1093/hmg/ddu069 DOI 10.1093/hmg/ddv265 http://dx.doi.org/10.1093/hmg/ddv265 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DOI 10.1186/gb-2012-13-2-r12 http://dx.doi.org/10.1186/gb-2012-13-2-r12 EMBL AL355472 http://www.ebi.ac.uk/ena/data/view/AL355472 EMBL AL355472 http://www.ebi.ac.uk/ena/data/view/AL355472 EMBL AL355472 http://www.ebi.ac.uk/ena/data/view/AL355472 EMBL BC025793 http://www.ebi.ac.uk/ena/data/view/BC025793 EMBL BC116455 http://www.ebi.ac.uk/ena/data/view/BC116455 Ensembl ENST00000366612 http://www.ensembl.org/id/ENST00000366612 Ensembl ENST00000366613 http://www.ensembl.org/id/ENST00000366613 Ensembl ENST00000619305 http://www.ensembl.org/id/ENST00000619305 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005758 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005758 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_function GO:0004129 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004129 GO_function GO:0005507 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005507 GO_function GO:0044822 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044822 GO_process GO:0008535 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008535 GO_process GO:0042774 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042774 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003723 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003723 GOslim_function GO:0016491 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016491 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006091 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 Gene3D 1.10.10.140 http://www.cathdb.info/version/latest/superfamily/1.10.10.140 GeneCards COA6 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=COA6 GeneID 388753 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=388753 GeneTree ENSGT00390000004094 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000004094 HGNC HGNC:18025 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:18025 HOGENOM HOG000196422 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000196422&db=HOGENOM6 HOVERGEN HBG056284 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG056284&db=HOVERGEN HPA HPA028588 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA028588 InParanoid Q5JTJ3 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q5JTJ3 IntAct Q5JTJ3 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q5JTJ3* InterPro IPR003213 http://www.ebi.ac.uk/interpro/entry/IPR003213 Jabion 388753 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=388753 KEGG_Gene hsa:388753 http://www.genome.jp/dbget-bin/www_bget?hsa:388753 MIM 614772 http://www.ncbi.nlm.nih.gov/omim/614772 MIM 616501 http://www.ncbi.nlm.nih.gov/omim/616501 OMA LLGDCGP http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=LLGDCGP PROSITE PS51808 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51808 PSORT swissprot:COA6_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:COA6_HUMAN PSORT-B swissprot:COA6_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:COA6_HUMAN PSORT2 swissprot:COA6_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:COA6_HUMAN Pfam PF02297 http://pfam.xfam.org/family/PF02297 PharmGKB PA25617 http://www.pharmgkb.org/do/serve?objId=PA25617&objCls=Gene Phobius swissprot:COA6_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:COA6_HUMAN PhylomeDB Q5JTJ3 http://phylomedb.org/?seqid=Q5JTJ3 ProteinModelPortal Q5JTJ3 http://www.proteinmodelportal.org/query/uniprot/Q5JTJ3 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 22356826 http://www.ncbi.nlm.nih.gov/pubmed/22356826 PubMed 22814378 http://www.ncbi.nlm.nih.gov/pubmed/22814378 PubMed 24549041 http://www.ncbi.nlm.nih.gov/pubmed/24549041 PubMed 25339201 http://www.ncbi.nlm.nih.gov/pubmed/25339201 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 25959673 http://www.ncbi.nlm.nih.gov/pubmed/25959673 PubMed 26160915 http://www.ncbi.nlm.nih.gov/pubmed/26160915 Reactome R-HSA-1268020 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1268020 RefSeq NP_001013003 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001013003 RefSeq NP_001288662 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001288662 STRING 9606.ENSP00000355572 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000355572&targetmode=cogs SUPFAM SSF47694 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF47694 UCSC uc001hwc http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001hwc&org=rat UniGene Hs.23198 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.23198 UniProtKB COA6_HUMAN http://www.uniprot.org/uniprot/COA6_HUMAN UniProtKB-AC Q5JTJ3 http://www.uniprot.org/uniprot/Q5JTJ3 charge swissprot:COA6_HUMAN http://rest.g-language.org/emboss/charge/swissprot:COA6_HUMAN eggNOG ENOG41121WM http://eggnogapi.embl.de/nog_data/html/tree/ENOG41121WM eggNOG KOG3057 http://eggnogapi.embl.de/nog_data/html/tree/KOG3057 epestfind swissprot:COA6_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:COA6_HUMAN garnier swissprot:COA6_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:COA6_HUMAN helixturnhelix swissprot:COA6_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:COA6_HUMAN hmoment swissprot:COA6_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:COA6_HUMAN iep swissprot:COA6_HUMAN http://rest.g-language.org/emboss/iep/swissprot:COA6_HUMAN inforesidue swissprot:COA6_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:COA6_HUMAN neXtProt NX_Q5JTJ3 http://www.nextprot.org/db/entry/NX_Q5JTJ3 octanol swissprot:COA6_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:COA6_HUMAN pepcoil swissprot:COA6_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:COA6_HUMAN pepdigest swissprot:COA6_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:COA6_HUMAN pepinfo swissprot:COA6_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:COA6_HUMAN pepnet swissprot:COA6_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:COA6_HUMAN pepstats swissprot:COA6_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:COA6_HUMAN pepwheel swissprot:COA6_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:COA6_HUMAN pepwindow swissprot:COA6_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:COA6_HUMAN sigcleave swissprot:COA6_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:COA6_HUMAN ## Database ID URL or Descriptions # AltName RAMP3_HUMAN Calcitonin-receptor-like receptor activity-modifying protein 3 # BioGrid 115559 7 # ChiTaRS RAMP3 human # DrugBank DB01278 Pramlintide # Ensembl ENST00000242249 ENSP00000242249; ENSG00000122679 # Ensembl ENST00000481345 ENSP00000419012; ENSG00000122679 # ExpressionAtlas O60896 baseline and differential # FUNCTION RAMP3_HUMAN Plays a role in cardioprotection by reducing cardiac hypertrophy and perivascular fibrosis in a GPER1-dependent manner. Transports the calcitonin gene-related peptide type 1 receptor (CALCRL) and GPER1 to the plasma membrane. Acts as a receptor for adrenomedullin (AM) together with CALCRL. {ECO 0000269|PubMed 23674134, ECO 0000269|PubMed 9620797}. # GO_component GO:0005622 intracellular; IDA:UniProtKB. # GO_component GO:0005764 lysosome; TAS:ProtInc. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0009986 cell surface; IDA:UniProtKB. # GO_component GO:0043235 receptor complex; IDA:UniProtKB. # GO_function GO:0004872 receptor activity; IDA:UniProtKB. # GO_function GO:0008565 protein transporter activity; IDA:UniProtKB. # GO_function GO:0015026 coreceptor activity; IEA:Ensembl. # GO_process GO:0001921 positive regulation of receptor recycling; IDA:UniProtKB. # GO_process GO:0006816 calcium ion transport; IDA:UniProtKB. # GO_process GO:0006886 intracellular protein transport; IEA:InterPro. # GO_process GO:0008277 regulation of G-protein coupled receptor protein signaling pathway; IEA:InterPro. # GO_process GO:0015031 protein transport; IDA:UniProtKB. # GO_process GO:0031623 receptor internalization; IDA:UniProtKB. # GO_process GO:0045892 negative regulation of transcription, DNA-templated; IMP:UniProtKB. # GO_process GO:0071392 cellular response to estradiol stimulus; ISS:UniProtKB. # GO_process GO:0072659 protein localization to plasma membrane; IDA:UniProtKB. # GO_process GO:0086103 G-protein coupled receptor signaling pathway involved in heart process; ISS:UniProtKB. # GO_process GO:0090004 positive regulation of establishment of protein localization to plasma membrane; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005622 intracellular # GOslim_component GO:0005764 lysosome # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0008565 protein transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007009 plasma membrane organization # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0016192 vesicle-mediated transport # Genevisible O60896 HS # HGNC HGNC:9845 RAMP3 # INTERACTION RAMP3_HUMAN P26371 KRTAP5-9; NbExp=3; IntAct=EBI-720447, EBI-3958099; Q7Z3S9 NOTCH2NL; NbExp=5; IntAct=EBI-720447, EBI-945833; # IntAct O60896 6 # InterPro IPR006985 RAMP # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04030 G protein-coupled receptors # KEGG_Pathway ko04270 Vascular smooth muscle contraction # MIM 605155 gene # Organism RAMP3_HUMAN Homo sapiens (Human) # PANTHER PTHR14076 PTHR14076 # Pfam PF04901 RAMP # Proteomes UP000005640 Chromosome 7 # Reactome R-HSA-418555 G alpha (s) signalling events # Reactome R-HSA-419812 Calcitonin-like ligand receptors # RecName RAMP3_HUMAN Receptor activity-modifying protein 3 # RefSeq NP_005847 NM_005856.2 # SIMILARITY Belongs to the RAMP family. {ECO 0000305}. # SUBCELLULAR LOCATION RAMP3_HUMAN Cell membrane {ECO 0000269|PubMed 23674134}; Single-pass type I membrane protein {ECO 0000269|PubMed 23674134}. Membrane {ECO 0000269|PubMed 23674134}; Single-pass type I membrane protein {ECO 0000269|PubMed 23674134}. Note=Moves from intracellular puncta to the plasma membrane in a RAMP3-dependent manner. # SUBUNIT Heterodimer of CALCRL and RAMP3 (By similarity). Interacts with GPER1. {ECO:0000250, ECO 0000269|PubMed:23674134}. # TISSUE SPECIFICITY Strongly expressed in lung, breast, immune system and fetal tissues. {ECO:0000269|PubMed 9620797}. # UCSC uc003tnb human # eggNOG ENOG410IXGF Eukaryota # eggNOG ENOG4111U8C LUCA BLAST swissprot:RAMP3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:RAMP3_HUMAN BioCyc ZFISH:ENSG00000122679-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000122679-MONOMER COXPRESdb 10268 http://coxpresdb.jp/data/gene/10268.shtml CleanEx HS_RAMP3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_RAMP3 DOI 10.1038/30666 http://dx.doi.org/10.1038/30666 DOI 10.1038/nature01782 http://dx.doi.org/10.1038/nature01782 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1530/JME-13-0021 http://dx.doi.org/10.1530/JME-13-0021 DrugBank DB01278 http://www.drugbank.ca/drugs/DB01278 EMBL AC004844 http://www.ebi.ac.uk/ena/data/view/AC004844 EMBL AJ001016 http://www.ebi.ac.uk/ena/data/view/AJ001016 EMBL AY265459 http://www.ebi.ac.uk/ena/data/view/AY265459 EMBL BC022304 http://www.ebi.ac.uk/ena/data/view/BC022304 EMBL BC053852 http://www.ebi.ac.uk/ena/data/view/BC053852 Ensembl ENST00000242249 http://www.ensembl.org/id/ENST00000242249 Ensembl ENST00000481345 http://www.ensembl.org/id/ENST00000481345 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005622 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005622 GO_component GO:0005764 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005764 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0009986 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009986 GO_component GO:0043235 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043235 GO_function GO:0004872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004872 GO_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GO_function GO:0015026 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015026 GO_process GO:0001921 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001921 GO_process GO:0006816 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006816 GO_process GO:0006886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006886 GO_process GO:0008277 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008277 GO_process GO:0015031 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015031 GO_process GO:0031623 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031623 GO_process GO:0045892 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045892 GO_process GO:0071392 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071392 GO_process GO:0072659 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0072659 GO_process GO:0086103 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086103 GO_process GO:0090004 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090004 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005622 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005622 GOslim_component GO:0005764 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005764 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007009 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007009 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0016192 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016192 GeneCards RAMP3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=RAMP3 GeneID 10268 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=10268 GeneTree ENSGT00390000016200 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000016200 HGNC HGNC:9845 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:9845 HOGENOM HOG000253018 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000253018&db=HOGENOM6 HOVERGEN HBG061268 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG061268&db=HOVERGEN InParanoid O60896 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O60896 IntAct O60896 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O60896* InterPro IPR006985 http://www.ebi.ac.uk/interpro/entry/IPR006985 Jabion 10268 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=10268 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04030 http://www.genome.jp/dbget-bin/www_bget?ko04030 KEGG_Gene hsa:10268 http://www.genome.jp/dbget-bin/www_bget?hsa:10268 KEGG_Orthology KO:K08449 http://www.genome.jp/dbget-bin/www_bget?KO:K08449 KEGG_Pathway ko04270 http://www.genome.jp/kegg-bin/show_pathway?ko04270 MIM 605155 http://www.ncbi.nlm.nih.gov/omim/605155 MINT MINT-1384016 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1384016 PANTHER PTHR14076 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR14076 PSORT swissprot:RAMP3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:RAMP3_HUMAN PSORT-B swissprot:RAMP3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:RAMP3_HUMAN PSORT2 swissprot:RAMP3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:RAMP3_HUMAN Pfam PF04901 http://pfam.xfam.org/family/PF04901 PharmGKB PA34204 http://www.pharmgkb.org/do/serve?objId=PA34204&objCls=Gene Phobius swissprot:RAMP3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:RAMP3_HUMAN PhylomeDB O60896 http://phylomedb.org/?seqid=O60896 ProteinModelPortal O60896 http://www.proteinmodelportal.org/query/uniprot/O60896 PubMed 12853948 http://www.ncbi.nlm.nih.gov/pubmed/12853948 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 23674134 http://www.ncbi.nlm.nih.gov/pubmed/23674134 PubMed 9620797 http://www.ncbi.nlm.nih.gov/pubmed/9620797 Reactome R-HSA-418555 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-418555 Reactome R-HSA-419812 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-419812 RefSeq NP_005847 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_005847 STRING 9606.ENSP00000242249 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000242249&targetmode=cogs UCSC uc003tnb http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003tnb&org=rat UniGene Hs.25691 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.25691 UniProtKB RAMP3_HUMAN http://www.uniprot.org/uniprot/RAMP3_HUMAN UniProtKB-AC O60896 http://www.uniprot.org/uniprot/O60896 charge swissprot:RAMP3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:RAMP3_HUMAN eggNOG ENOG410IXGF http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IXGF eggNOG ENOG4111U8C http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111U8C epestfind swissprot:RAMP3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:RAMP3_HUMAN garnier swissprot:RAMP3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:RAMP3_HUMAN helixturnhelix swissprot:RAMP3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:RAMP3_HUMAN hmoment swissprot:RAMP3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:RAMP3_HUMAN iep swissprot:RAMP3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:RAMP3_HUMAN inforesidue swissprot:RAMP3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:RAMP3_HUMAN neXtProt NX_O60896 http://www.nextprot.org/db/entry/NX_O60896 octanol swissprot:RAMP3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:RAMP3_HUMAN pepcoil swissprot:RAMP3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:RAMP3_HUMAN pepdigest swissprot:RAMP3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:RAMP3_HUMAN pepinfo swissprot:RAMP3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:RAMP3_HUMAN pepnet swissprot:RAMP3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:RAMP3_HUMAN pepstats swissprot:RAMP3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:RAMP3_HUMAN pepwheel swissprot:RAMP3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:RAMP3_HUMAN pepwindow swissprot:RAMP3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:RAMP3_HUMAN sigcleave swissprot:RAMP3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:RAMP3_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS NDUF6_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q330K2-1; Sequence=Displayed; Name=2; IsoId=Q330K2-2; Sequence=VSP_026230; Name=3; IsoId=Q330K2-3; Sequence=VSP_026231, VSP_026232; # AltName NDUF6_HUMAN Putative phytoene synthase # CCDS CCDS6266 -. [Q330K2-1] # DISEASE NDUF6_HUMAN Mitochondrial complex I deficiency (MT-C1D) [MIM 252010] A disorder of the mitochondrial respiratory chain that causes a wide range of clinical manifestations from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. {ECO 0000269|PubMed 18614015, ECO 0000269|PubMed 26741492}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000396124 ENSP00000379430; ENSG00000156170. [Q330K2-1] # Ensembl ENST00000518258 ENSP00000428788; ENSG00000156170. [Q330K2-3] # Ensembl ENST00000523337 ENSP00000429038; ENSG00000156170. [Q330K2-3] # ExpressionAtlas Q330K2 baseline and differential # FUNCTION NDUF6_HUMAN Involved in the assembly of mitochondrial NADH ubiquinone oxidoreductase complex (complex I) at early stages. May play a role in the biogenesis of MT-ND1. {ECO 0000269|PubMed 18614015, ECO 0000269|PubMed 22019594}. # GO_component GO:0005634 nucleus; IDA:UniProtKB. # GO_component GO:0005737 cytoplasm; IDA:UniProtKB. # GO_component GO:0005743 mitochondrial inner membrane; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; IBA:GO_Central. # GO_function GO:0016740 transferase activity; IEA:InterPro. # GO_function GO:0022857 transmembrane transporter activity; IBA:GO_Central. # GO_process GO:0009058 biosynthetic process; IEA:InterPro. # GO_process GO:0032981 mitochondrial respiratory chain complex I assembly; IMP:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005737 cytoplasm # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0009058 biosynthetic process # Gene3D 1.10.600.10 -; 1. # Genevisible Q330K2 HS # HGNC HGNC:28625 NDUFAF6 # InterPro IPR002060 Squ/phyt_synthse # InterPro IPR008949 Isoprenoid_synthase_dom # KEGG_Disease H00473 [Inherited metabolic disease; Mitochondrial disease] GRACILE Syndrome # KEGG_Disease H01354 [Inherited metabolic disease; Neurodegenerative disease; Mitochondrial disease] X-linked Leigh syndrome # MIM 252010 phenotype # MIM 612392 gene # Organism NDUF6_HUMAN Homo sapiens (Human) # Orphanet 255241 Leigh syndrome with leukodystrophy # Pfam PF00494 SQS_PSY # Proteomes UP000005640 Chromosome 8 # Reactome R-HSA-6799198 Complex I biogenesis # RecName NDUF6_HUMAN NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 # RefSeq NP_001317511 NM_001330582.1 # RefSeq NP_689629 NM_152416.3. [Q330K2-1] # RefSeq XP_011515135 XM_011516833.2. [Q330K2-2] # RefSeq XP_011515136 XM_011516834.2. [Q330K2-2] # RefSeq XP_011515137 XM_011516835.2. [Q330K2-2] # RefSeq XP_011515138 XM_011516836.2. [Q330K2-2] # RefSeq XP_011515139 XM_011516837.2. [Q330K2-2] # RefSeq XP_011515140 XM_011516838.2. [Q330K2-2] # RefSeq XP_011515141 XM_011516839.2. [Q330K2-2] # RefSeq XP_011515142 XM_011516840.2. [Q330K2-2] # RefSeq XP_011515143 XM_011516841.2. [Q330K2-2] # RefSeq XP_011515144 XM_011516842.2. [Q330K2-2] # RefSeq XP_016868516 XM_017013027.1. [Q330K2-2] # RefSeq XP_016868517 XM_017013028.1. [Q330K2-2] # RefSeq XP_016868518 XM_017013029.1. [Q330K2-2] # RefSeq XP_016868519 XM_017013030.1. [Q330K2-2] # RefSeq XP_016868520 XM_017013031.1 # RefSeq XP_016868521 XM_017013032.1 # RefSeq XP_016868522 XM_017013033.1 # SEQUENCE CAUTION Sequence=BAG60807.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=EAW91734.1; Type=Erroneous gene model prediction; Evidence={ECO 0000305}; # SIMILARITY Belongs to the NDUFAF6 family. {ECO 0000305}. # SUBCELLULAR LOCATION NDUF6_HUMAN Isoform 1 Mitochondrion inner membrane. Note=Peripherally localized on the matrix face of the mitochondrial inner membrane. # SUBCELLULAR LOCATION NDUF6_HUMAN Isoform 2 Cytoplasm. Nucleus. # SUPFAM SSF48576 SSF48576 # UCSC uc003yhj human. [Q330K2-1] # eggNOG COG1562 LUCA # eggNOG KOG4411 Eukaryota BLAST swissprot:NDUF6_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:NDUF6_HUMAN BioCyc ZFISH:HS14605-MONOMER http://biocyc.org/getid?id=ZFISH:HS14605-MONOMER COXPRESdb 137682 http://coxpresdb.jp/data/gene/137682.shtml CleanEx HS_C8orf38 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_C8orf38 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1016/j.cell.2008.06.016 http://dx.doi.org/10.1016/j.cell.2008.06.016 DOI 10.1016/j.jmb.2011.10.012 http://dx.doi.org/10.1016/j.jmb.2011.10.012 DOI 10.1038/nature04406 http://dx.doi.org/10.1038/nature04406 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1371/journal.pgen.1005679 http://dx.doi.org/10.1371/journal.pgen.1005679 EMBL AC087752 http://www.ebi.ac.uk/ena/data/view/AC087752 EMBL AK298631 http://www.ebi.ac.uk/ena/data/view/AK298631 EMBL AY444560 http://www.ebi.ac.uk/ena/data/view/AY444560 EMBL BC028166 http://www.ebi.ac.uk/ena/data/view/BC028166 EMBL CH471060 http://www.ebi.ac.uk/ena/data/view/CH471060 Ensembl ENST00000396124 http://www.ensembl.org/id/ENST00000396124 Ensembl ENST00000518258 http://www.ensembl.org/id/ENST00000518258 Ensembl ENST00000523337 http://www.ensembl.org/id/ENST00000523337 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0016740 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016740 GO_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GO_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GO_process GO:0032981 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032981 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 Gene3D 1.10.600.10 http://www.cathdb.info/version/latest/superfamily/1.10.600.10 GeneCards NDUFAF6 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=NDUFAF6 GeneID 137682 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=137682 GeneTree ENSGT00510000048688 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00510000048688 HGNC HGNC:28625 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:28625 HOGENOM HOG000146031 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000146031&db=HOGENOM6 HOVERGEN HBG080309 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG080309&db=HOVERGEN HPA HPA047148 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA047148 HPA HPA050545 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA050545 InParanoid Q330K2 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q330K2 InterPro IPR002060 http://www.ebi.ac.uk/interpro/entry/IPR002060 InterPro IPR008949 http://www.ebi.ac.uk/interpro/entry/IPR008949 Jabion 137682 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=137682 KEGG_Disease H00473 http://www.genome.jp/dbget-bin/www_bget?H00473 KEGG_Disease H01354 http://www.genome.jp/dbget-bin/www_bget?H01354 KEGG_Gene hsa:137682 http://www.genome.jp/dbget-bin/www_bget?hsa:137682 MIM 252010 http://www.ncbi.nlm.nih.gov/omim/252010 MIM 612392 http://www.ncbi.nlm.nih.gov/omim/612392 OMA ALPYHAS http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=ALPYHAS Orphanet 255241 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=255241 OrthoDB EOG091G0H0S http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0H0S PSORT swissprot:NDUF6_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:NDUF6_HUMAN PSORT-B swissprot:NDUF6_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:NDUF6_HUMAN PSORT2 swissprot:NDUF6_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:NDUF6_HUMAN Pfam PF00494 http://pfam.xfam.org/family/PF00494 PharmGKB PA142672357 http://www.pharmgkb.org/do/serve?objId=PA142672357&objCls=Gene Phobius swissprot:NDUF6_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:NDUF6_HUMAN PhylomeDB Q330K2 http://phylomedb.org/?seqid=Q330K2 ProteinModelPortal Q330K2 http://www.proteinmodelportal.org/query/uniprot/Q330K2 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16421571 http://www.ncbi.nlm.nih.gov/pubmed/16421571 PubMed 18614015 http://www.ncbi.nlm.nih.gov/pubmed/18614015 PubMed 22019594 http://www.ncbi.nlm.nih.gov/pubmed/22019594 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 26741492 http://www.ncbi.nlm.nih.gov/pubmed/26741492 Reactome R-HSA-6799198 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6799198 RefSeq NP_001317511 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001317511 RefSeq NP_689629 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_689629 RefSeq XP_011515135 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011515135 RefSeq XP_011515136 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011515136 RefSeq XP_011515137 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011515137 RefSeq XP_011515138 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011515138 RefSeq XP_011515139 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011515139 RefSeq XP_011515140 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011515140 RefSeq XP_011515141 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011515141 RefSeq XP_011515142 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011515142 RefSeq XP_011515143 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011515143 RefSeq XP_011515144 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011515144 RefSeq XP_016868516 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016868516 RefSeq XP_016868517 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016868517 RefSeq XP_016868518 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016868518 RefSeq XP_016868519 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016868519 RefSeq XP_016868520 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016868520 RefSeq XP_016868521 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016868521 RefSeq XP_016868522 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016868522 SMR Q330K2 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q330K2 STRING 9606.ENSP00000379430 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000379430&targetmode=cogs SUPFAM SSF48576 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48576 UCSC uc003yhj http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003yhj&org=rat UniGene Hs.729144 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.729144 UniProtKB NDUF6_HUMAN http://www.uniprot.org/uniprot/NDUF6_HUMAN UniProtKB-AC Q330K2 http://www.uniprot.org/uniprot/Q330K2 charge swissprot:NDUF6_HUMAN http://rest.g-language.org/emboss/charge/swissprot:NDUF6_HUMAN eggNOG COG1562 http://eggnogapi.embl.de/nog_data/html/tree/COG1562 eggNOG KOG4411 http://eggnogapi.embl.de/nog_data/html/tree/KOG4411 epestfind swissprot:NDUF6_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:NDUF6_HUMAN garnier swissprot:NDUF6_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:NDUF6_HUMAN helixturnhelix swissprot:NDUF6_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:NDUF6_HUMAN hmoment swissprot:NDUF6_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:NDUF6_HUMAN iep swissprot:NDUF6_HUMAN http://rest.g-language.org/emboss/iep/swissprot:NDUF6_HUMAN inforesidue swissprot:NDUF6_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:NDUF6_HUMAN neXtProt NX_Q330K2 http://www.nextprot.org/db/entry/NX_Q330K2 octanol swissprot:NDUF6_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:NDUF6_HUMAN pepcoil swissprot:NDUF6_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:NDUF6_HUMAN pepdigest swissprot:NDUF6_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:NDUF6_HUMAN pepinfo swissprot:NDUF6_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:NDUF6_HUMAN pepnet swissprot:NDUF6_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:NDUF6_HUMAN pepstats swissprot:NDUF6_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:NDUF6_HUMAN pepwheel swissprot:NDUF6_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:NDUF6_HUMAN pepwindow swissprot:NDUF6_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:NDUF6_HUMAN sigcleave swissprot:NDUF6_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:NDUF6_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS NAC1_HUMAN Event=Alternative splicing; Named isoforms=5; Comment=Additional isoforms seem to exist.; Name=1; Synonyms=NaCa1, NCX1.1; IsoId=P32418-1; Sequence=Displayed; Name=3; Synonyms=NaCa3, NCX1.3; IsoId=P32418-2; Sequence=VSP_003397, VSP_003398, VSP_003400; Name=7; Synonyms=NaCa7, NCX1.7; IsoId=P32418-3; Sequence=VSP_003397, VSP_003398, VSP_003399; Name=10; Synonyms=NaCa10, NCX1.10; IsoId=P32418-4; Sequence=VSP_003397, VSP_003398; Name=5; IsoId=P32418-5; Sequence=VSP_003399; # AltName NAC1_HUMAN Na(+)/Ca(2+)-exchange protein 1 # AltName NAC1_HUMAN Solute carrier family 8 member 1 # CCDS CCDS1806 -. [P32418-1] # CCDS CCDS46264 -. [P32418-2] # CCDS CCDS46265 -. [P32418-5] # CCDS CCDS59430 -. [P32418-4] # ChiTaRS SLC8A1 human # DOMAIN NAC1_HUMAN The cytoplasmic Calx-beta domains bind the regulatory Ca(2+). The first Calx-beta domain can bind up to four Ca(2+) ions. The second domain can bind another two Ca(2+) ions that are essential for calcium-regulated ion exchange. {ECO 0000250|UniProtKB P23685}. # DrugBank DB00132 Alpha-Linolenic Acid # DrugBank DB00159 Icosapent # ENZYME REGULATION Activated by micromolar levels of Ca(2+). {ECO 0000305}. # Ensembl ENST00000332839 ENSP00000332931; ENSG00000183023. [P32418-1] # Ensembl ENST00000402441 ENSP00000385188; ENSG00000183023. [P32418-2] # Ensembl ENST00000403092 ENSP00000384763; ENSG00000183023. [P32418-1] # Ensembl ENST00000405269 ENSP00000385535; ENSG00000183023. [P32418-2] # Ensembl ENST00000405901 ENSP00000385678; ENSG00000183023. [P32418-5] # Ensembl ENST00000406391 ENSP00000385811; ENSG00000183023. [P32418-2] # Ensembl ENST00000406785 ENSP00000383886; ENSG00000183023. [P32418-2] # Ensembl ENST00000408028 ENSP00000384908; ENSG00000183023. [P32418-4] # ExpressionAtlas P32418 baseline and differential # FUNCTION NAC1_HUMAN Mediates the exchange of one Ca(2+) ion against three to four Na(+) ions across the cell membrane, and thereby contributes to the regulation of cytoplasmic Ca(2+) levels and Ca(2+)- dependent cellular processes (PubMed 1374913, PubMed 11241183, PubMed 1476165). Contributes to Ca(2+) transport during excitation-contraction coupling in muscle. In a first phase, voltage-gated channels mediate the rapid increase of cytoplasmic Ca(2+) levels due to release of Ca(2+) stores from the endoplasmic reticulum. SLC8A1 mediates the export of Ca(2+) from the cell during the next phase, so that cytoplasmic Ca(2+) levels rapidly return to baseline. Required for normal embryonic heart development and the onset of heart contractions. {ECO 0000250|UniProtKB P70414, ECO 0000269|PubMed 11241183, ECO 0000269|PubMed 1374913, ECO 0000269|PubMed 1476165}. # GO_component GO:0005739 mitochondrion; IEA:Ensembl. # GO_component GO:0005874 microtubule; IEA:Ensembl. # GO_component GO:0005886 plasma membrane; TAS:BHF-UCL. # GO_component GO:0005887 integral component of plasma membrane; IDA:BHF-UCL. # GO_component GO:0014704 intercalated disc; ISS:BHF-UCL. # GO_component GO:0030018 Z disc; ISS:BHF-UCL. # GO_component GO:0030315 T-tubule; ISS:BHF-UCL. # GO_component GO:0042383 sarcolemma; ISS:BHF-UCL. # GO_component GO:0043197 dendritic spine; IEA:Ensembl. # GO_component GO:0043198 dendritic shaft; IEA:Ensembl. # GO_function GO:0005509 calcium ion binding; ISS:UniProtKB. # GO_function GO:0008092 cytoskeletal protein binding; IDA:BHF-UCL. # GO_function GO:0030506 ankyrin binding; IPI:BHF-UCL. # GO_function GO:0044325 ion channel binding; ISS:BHF-UCL. # GO_function NAC1_HUMAN GO 0005432 calcium sodium antiporter activity; IDA BHF-UCL. # GO_process GO:0002026 regulation of the force of heart contraction; ISS:BHF-UCL. # GO_process GO:0002027 regulation of heart rate; ISS:BHF-UCL. # GO_process GO:0002028 regulation of sodium ion transport; IEA:Ensembl. # GO_process GO:0006811 ion transport; TAS:Reactome. # GO_process GO:0006883 cellular sodium ion homeostasis; IDA:BHF-UCL. # GO_process GO:0006936 muscle contraction; TAS:ProtInc. # GO_process GO:0007584 response to nutrient; IEA:Ensembl. # GO_process GO:0009749 response to glucose; IEA:Ensembl. # GO_process GO:0010649 regulation of cell communication by electrical coupling; TAS:BHF-UCL. # GO_process GO:0010763 positive regulation of fibroblast migration; IEA:Ensembl. # GO_process GO:0010881 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion; ISS:BHF-UCL. # GO_process GO:0010882 regulation of cardiac muscle contraction by calcium ion signaling; TAS:BHF-UCL. # GO_process GO:0014829 vascular smooth muscle contraction; ISS:BHF-UCL. # GO_process GO:0021537 telencephalon development; IEA:Ensembl. # GO_process GO:0030501 positive regulation of bone mineralization; IMP:UniProtKB. # GO_process GO:0033198 response to ATP; IEA:Ensembl. # GO_process GO:0034614 cellular response to reactive oxygen species; IDA:BHF-UCL. # GO_process GO:0035725 sodium ion transmembrane transport; IMP:UniProtKB. # GO_process GO:0035902 response to immobilization stress; IEA:Ensembl. # GO_process GO:0035994 response to muscle stretch; IMP:BHF-UCL. # GO_process GO:0042493 response to drug; IEA:Ensembl. # GO_process GO:0042542 response to hydrogen peroxide; IEA:Ensembl. # GO_process GO:0044557 relaxation of smooth muscle; ISS:BHF-UCL. # GO_process GO:0051481 negative regulation of cytosolic calcium ion concentration; ISS:BHF-UCL. # GO_process GO:0055013 cardiac muscle cell development; ISS:BHF-UCL. # GO_process GO:0055074 calcium ion homeostasis; ISS:BHF-UCL. # GO_process GO:0055119 relaxation of cardiac muscle; TAS:BHF-UCL. # GO_process GO:0060048 cardiac muscle contraction; TAS:BHF-UCL. # GO_process GO:0060401 cytosolic calcium ion transport; TAS:BHF-UCL. # GO_process GO:0060402 calcium ion transport into cytosol; ISS:BHF-UCL. # GO_process GO:0070509 calcium ion import; IDA:BHF-UCL. # GO_process GO:0070588 calcium ion transmembrane transport; IGI:UniProtKB. # GO_process GO:0071313 cellular response to caffeine; ISS:BHF-UCL. # GO_process GO:0071320 cellular response to cAMP; IEA:Ensembl. # GO_process GO:0071436 sodium ion export; IDA:BHF-UCL. # GO_process GO:0071456 cellular response to hypoxia; IEA:Ensembl. # GO_process GO:0086012 membrane depolarization during cardiac muscle cell action potential; TAS:BHF-UCL. # GO_process GO:0086064 cell communication by electrical coupling involved in cardiac conduction; ISS:BHF-UCL. # GO_process GO:0097369 sodium ion import; IDA:BHF-UCL. # GO_process GO:0098735 positive regulation of the force of heart contraction; IMP:BHF-UCL. # GO_process GO:1901660 calcium ion export; IDA:BHF-UCL. # GO_process GO:1903779 regulation of cardiac conduction; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005739 mitochondrion # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0008092 cytoskeletal protein binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0003013 circulatory system process # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0055085 transmembrane transport # Genevisible P32418 HS # HGNC HGNC:11068 SLC8A1 # InterPro IPR001623 DnaJ_domain # InterPro IPR002987 NaCa_exhngr1 # InterPro IPR003644 Calx_beta # InterPro IPR004836 Na_Ca_Ex # InterPro IPR004837 NaCa_Exmemb # InterPro IPR032452 Na_Ca_Ex_C-exten # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00536 Heparan sulfate/heparin binding proteins # KEGG_Brite ko02001 Solute carrier family # KEGG_Pathway ko04020 Calcium signaling pathway # KEGG_Pathway ko04974 Protein digestion and absorption # MIM 182305 gene # Organism NAC1_HUMAN Homo sapiens (Human) # PIR S32815 S32815 # PRINTS PR01259 NACAEXCHNGR # PRINTS PR01260 NACAEXCHNGR1 # Pfam PF01699 Na_Ca_ex; 2 # Pfam PF03160 Calx-beta; 2 # Pfam PF16494 Na_Ca_ex_C # Proteomes UP000005640 Chromosome 2 # Reactome R-HSA-418359 Reduction of cytosolic Ca++ levels # Reactome R-HSA-425561 Sodium/Calcium exchangers # Reactome R-HSA-5578775 Ion homeostasis # RecName NAC1_HUMAN Sodium/calcium exchanger 1 # RefSeq NP_001106271 NM_001112800.1. [P32418-5] # RefSeq NP_001106272 NM_001112801.1. [P32418-3] # RefSeq NP_001106273 NM_001112802.1. [P32418-2] # RefSeq NP_001239553 NM_001252624.1. [P32418-4] # RefSeq NP_066920 NM_021097.2. [P32418-1] # RefSeq XP_005264571 XM_005264514.3. [P32418-2] # RefSeq XP_006712144 XM_006712081.2. [P32418-1] # RefSeq XP_006712145 XM_006712082.3. [P32418-1] # RefSeq XP_006712146 XM_006712083.3. [P32418-1] # RefSeq XP_006712147 XM_006712084.3. [P32418-1] # RefSeq XP_006712148 XM_006712085.3. [P32418-1] # RefSeq XP_011531356 XM_011533054.2. [P32418-1] # RefSeq XP_011531357 XM_011533055.2. [P32418-1] # RefSeq XP_011531358 XM_011533056.1. [P32418-1] # RefSeq XP_016860235 XM_017004746.1. [P32418-1] # RefSeq XP_016860237 XM_017004748.1. [P32418-1] # RefSeq XP_016860238 XM_017004749.1. [P32418-1] # RefSeq XP_016860239 XM_017004750.1. [P32418-1] # RefSeq XP_016860240 XM_017004751.1. [P32418-1] # RefSeq XP_016860241 XM_017004752.1. [P32418-1] # RefSeq XP_016860242 XM_017004753.1. [P32418-1] # RefSeq XP_016860243 XM_017004754.1. [P32418-4] # RefSeq XP_016860247 XM_017004758.1. [P32418-3] # SEQUENCE CAUTION Sequence=AAH98308.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the Ca(2+):cation antiporter (CaCA) (TC 2.A.19) family. SLC8 subfamily. {ECO 0000305}. # SIMILARITY Contains 2 Calx-beta domains. {ECO 0000305}. # SMART SM00237 Calx_beta; 2 # SUBCELLULAR LOCATION NAC1_HUMAN Cell membrane {ECO 0000269|PubMed 11241183, ECO 0000269|PubMed 1374913, ECO 0000269|PubMed 1476165}; Multi- pass membrane protein {ECO 0000269|PubMed 23376057}. # TCDB 2.A.19.3:the ca(2+) cation antiporter (caca) family # TIGRFAMs TIGR00845 caca # TISSUE SPECIFICITY NAC1_HUMAN Detected primarily in heart and at lower levels in brain (PubMed 1374913). Expressed in cardiac sarcolemma, brain, kidney, liver, pancreas, skeletal muscle, placenta and lung (PubMed 1476165). {ECO 0000269|PubMed 1374913, ECO 0000269|PubMed 1476165}. # UCSC uc002rrx human. [P32418-1] # eggNOG ENOG410XPJP LUCA # eggNOG KOG1306 Eukaryota BLAST swissprot:NAC1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:NAC1_HUMAN BioCyc ZFISH:G66-31047-MONOMER http://biocyc.org/getid?id=ZFISH:G66-31047-MONOMER COXPRESdb 6546 http://coxpresdb.jp/data/gene/6546.shtml CleanEx HS_SLC8A1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC8A1 DIP DIP-48356N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-48356N DOI 10.1007/s00223001098 http://dx.doi.org/10.1007/s00223001098 DOI 10.1016/j.mam.2012.07.003 http://dx.doi.org/10.1016/j.mam.2012.07.003 DOI 10.1016/j.yjmcc.2013.01.010 http://dx.doi.org/10.1016/j.yjmcc.2013.01.010 DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.89.10.4769 http://dx.doi.org/10.1073/pnas.89.10.4769 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1677/joe.0.1680517 http://dx.doi.org/10.1677/joe.0.1680517 DrugBank DB00132 http://www.drugbank.ca/drugs/DB00132 DrugBank DB00159 http://www.drugbank.ca/drugs/DB00159 EMBL AB209075 http://www.ebi.ac.uk/ena/data/view/AB209075 EMBL AC007254 http://www.ebi.ac.uk/ena/data/view/AC007254 EMBL AC007281 http://www.ebi.ac.uk/ena/data/view/AC007281 EMBL AC007377 http://www.ebi.ac.uk/ena/data/view/AC007377 EMBL AF108388 http://www.ebi.ac.uk/ena/data/view/AF108388 EMBL AF108389 http://www.ebi.ac.uk/ena/data/view/AF108389 EMBL AF115505 http://www.ebi.ac.uk/ena/data/view/AF115505 EMBL AF128524 http://www.ebi.ac.uk/ena/data/view/AF128524 EMBL AK291696 http://www.ebi.ac.uk/ena/data/view/AK291696 EMBL BC098308 http://www.ebi.ac.uk/ena/data/view/BC098308 EMBL CH471053 http://www.ebi.ac.uk/ena/data/view/CH471053 EMBL CH471053 http://www.ebi.ac.uk/ena/data/view/CH471053 EMBL CH471053 http://www.ebi.ac.uk/ena/data/view/CH471053 EMBL CH471053 http://www.ebi.ac.uk/ena/data/view/CH471053 EMBL CH471053 http://www.ebi.ac.uk/ena/data/view/CH471053 EMBL CH471053 http://www.ebi.ac.uk/ena/data/view/CH471053 EMBL M91368 http://www.ebi.ac.uk/ena/data/view/M91368 Ensembl ENST00000332839 http://www.ensembl.org/id/ENST00000332839 Ensembl ENST00000402441 http://www.ensembl.org/id/ENST00000402441 Ensembl ENST00000403092 http://www.ensembl.org/id/ENST00000403092 Ensembl ENST00000405269 http://www.ensembl.org/id/ENST00000405269 Ensembl ENST00000405901 http://www.ensembl.org/id/ENST00000405901 Ensembl ENST00000406391 http://www.ensembl.org/id/ENST00000406391 Ensembl ENST00000406785 http://www.ensembl.org/id/ENST00000406785 Ensembl ENST00000408028 http://www.ensembl.org/id/ENST00000408028 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005874 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005874 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0014704 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014704 GO_component GO:0030018 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030018 GO_component GO:0030315 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030315 GO_component GO:0042383 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042383 GO_component GO:0043197 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043197 GO_component GO:0043198 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043198 GO_function GO:0005432 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005432 GO_function GO:0005509 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005509 GO_function GO:0008092 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008092 GO_function GO:0030506 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030506 GO_function GO:0044325 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044325 GO_process GO:0002026 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002026 GO_process GO:0002027 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002027 GO_process GO:0002028 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002028 GO_process GO:0006811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006811 GO_process GO:0006883 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006883 GO_process GO:0006936 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006936 GO_process GO:0007584 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007584 GO_process GO:0009749 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009749 GO_process GO:0010649 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010649 GO_process GO:0010763 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010763 GO_process GO:0010881 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010881 GO_process GO:0010882 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010882 GO_process GO:0014829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014829 GO_process GO:0021537 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021537 GO_process GO:0030501 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030501 GO_process GO:0033198 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033198 GO_process GO:0034614 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034614 GO_process GO:0035725 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035725 GO_process GO:0035902 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035902 GO_process GO:0035994 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035994 GO_process GO:0042493 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042493 GO_process GO:0042542 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042542 GO_process GO:0044557 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044557 GO_process GO:0051481 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051481 GO_process GO:0055013 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055013 GO_process GO:0055074 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055074 GO_process GO:0055119 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055119 GO_process GO:0060048 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060048 GO_process GO:0060401 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060401 GO_process GO:0060402 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060402 GO_process GO:0070509 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070509 GO_process GO:0070588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070588 GO_process GO:0071313 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071313 GO_process GO:0071320 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071320 GO_process GO:0071436 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071436 GO_process GO:0071456 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071456 GO_process GO:0086012 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086012 GO_process GO:0086064 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086064 GO_process GO:0097369 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097369 GO_process GO:0098735 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0098735 GO_process GO:1901660 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1901660 GO_process GO:1903779 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903779 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0008092 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008092 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0003013 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003013 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC8A1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC8A1 GeneID 6546 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6546 GeneTree ENSGT00730000110414 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00730000110414 HGNC HGNC:11068 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11068 HOGENOM HOG000266971 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000266971&db=HOGENOM6 HOVERGEN HBG006441 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG006441&db=HOVERGEN HPA CAB022694 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB022694 InParanoid P32418 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P32418 IntAct P32418 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P32418* InterPro IPR001623 http://www.ebi.ac.uk/interpro/entry/IPR001623 InterPro IPR002987 http://www.ebi.ac.uk/interpro/entry/IPR002987 InterPro IPR003644 http://www.ebi.ac.uk/interpro/entry/IPR003644 InterPro IPR004836 http://www.ebi.ac.uk/interpro/entry/IPR004836 InterPro IPR004837 http://www.ebi.ac.uk/interpro/entry/IPR004837 InterPro IPR032452 http://www.ebi.ac.uk/interpro/entry/IPR032452 Jabion 6546 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6546 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00536 http://www.genome.jp/dbget-bin/www_bget?ko00536 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:6546 http://www.genome.jp/dbget-bin/www_bget?hsa:6546 KEGG_Orthology KO:K05849 http://www.genome.jp/dbget-bin/www_bget?KO:K05849 KEGG_Pathway ko04020 http://www.genome.jp/kegg-bin/show_pathway?ko04020 KEGG_Pathway ko04974 http://www.genome.jp/kegg-bin/show_pathway?ko04974 MIM 182305 http://www.ncbi.nlm.nih.gov/omim/182305 OMA DDEECGE http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=DDEECGE OrthoDB EOG091G0EC1 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0EC1 PRINTS PR01259 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01259 PRINTS PR01260 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01260 PSORT swissprot:NAC1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:NAC1_HUMAN PSORT-B swissprot:NAC1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:NAC1_HUMAN PSORT2 swissprot:NAC1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:NAC1_HUMAN Pfam PF01699 http://pfam.xfam.org/family/PF01699 Pfam PF03160 http://pfam.xfam.org/family/PF03160 Pfam PF16494 http://pfam.xfam.org/family/PF16494 PharmGKB PA314 http://www.pharmgkb.org/do/serve?objId=PA314&objCls=Gene Phobius swissprot:NAC1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:NAC1_HUMAN PhylomeDB P32418 http://phylomedb.org/?seqid=P32418 ProteinModelPortal P32418 http://www.proteinmodelportal.org/query/uniprot/P32418 PubMed 10908415 http://www.ncbi.nlm.nih.gov/pubmed/10908415 PubMed 11241183 http://www.ncbi.nlm.nih.gov/pubmed/11241183 PubMed 1374913 http://www.ncbi.nlm.nih.gov/pubmed/1374913 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 1476165 http://www.ncbi.nlm.nih.gov/pubmed/1476165 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 PubMed 23376057 http://www.ncbi.nlm.nih.gov/pubmed/23376057 PubMed 23506867 http://www.ncbi.nlm.nih.gov/pubmed/23506867 PubMed 8048567 http://www.ncbi.nlm.nih.gov/pubmed/8048567 Reactome R-HSA-418359 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-418359 Reactome R-HSA-425561 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-425561 Reactome R-HSA-5578775 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5578775 RefSeq NP_001106271 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001106271 RefSeq NP_001106272 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001106272 RefSeq NP_001106273 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001106273 RefSeq NP_001239553 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001239553 RefSeq NP_066920 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_066920 RefSeq XP_005264571 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005264571 RefSeq XP_006712144 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006712144 RefSeq XP_006712145 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006712145 RefSeq XP_006712146 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006712146 RefSeq XP_006712147 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006712147 RefSeq XP_006712148 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006712148 RefSeq XP_011531356 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011531356 RefSeq XP_011531357 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011531357 RefSeq XP_011531358 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011531358 RefSeq XP_016860235 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016860235 RefSeq XP_016860237 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016860237 RefSeq XP_016860238 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016860238 RefSeq XP_016860239 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016860239 RefSeq XP_016860240 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016860240 RefSeq XP_016860241 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016860241 RefSeq XP_016860242 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016860242 RefSeq XP_016860243 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016860243 RefSeq XP_016860247 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016860247 SMART SM00237 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00237 SMR P32418 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P32418 STRING 9606.ENSP00000332931 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000332931&targetmode=cogs TCDB 2.A.19.3 http://www.tcdb.org/search/result.php?tc=2.A.19.3 TIGRFAMs TIGR00845 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00845 UCSC uc002rrx http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002rrx&org=rat UniGene Hs.31961 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.31961 UniGene Hs.468274 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.468274 UniGene Hs.744988 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.744988 UniProtKB NAC1_HUMAN http://www.uniprot.org/uniprot/NAC1_HUMAN UniProtKB-AC P32418 http://www.uniprot.org/uniprot/P32418 charge swissprot:NAC1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:NAC1_HUMAN eggNOG ENOG410XPJP http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XPJP eggNOG KOG1306 http://eggnogapi.embl.de/nog_data/html/tree/KOG1306 epestfind swissprot:NAC1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:NAC1_HUMAN garnier swissprot:NAC1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:NAC1_HUMAN helixturnhelix swissprot:NAC1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:NAC1_HUMAN hmoment swissprot:NAC1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:NAC1_HUMAN iep swissprot:NAC1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:NAC1_HUMAN inforesidue swissprot:NAC1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:NAC1_HUMAN neXtProt NX_P32418 http://www.nextprot.org/db/entry/NX_P32418 octanol swissprot:NAC1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:NAC1_HUMAN pepcoil swissprot:NAC1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:NAC1_HUMAN pepdigest swissprot:NAC1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:NAC1_HUMAN pepinfo swissprot:NAC1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:NAC1_HUMAN pepnet swissprot:NAC1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:NAC1_HUMAN pepstats swissprot:NAC1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:NAC1_HUMAN pepwheel swissprot:NAC1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:NAC1_HUMAN pepwindow swissprot:NAC1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:NAC1_HUMAN sigcleave swissprot:NAC1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:NAC1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS ABCCB_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96J66-1; Sequence=Displayed; Name=2; Synonyms=Isoform A; IsoId=Q96J66-2; Sequence=VSP_017351; # AltName ABCCB_HUMAN Multidrug resistance-associated protein 8 # CCDS CCDS10732 -. [Q96J66-1] # CCDS CCDS10733 -. [Q96J66-2] # DrugBank DB00158 Folic Acid # DrugBank DB00286 Conjugated Estrogens # DrugBank DB00328 Indomethacin # DrugBank DB00563 Methotrexate # DrugBank DB01032 Probenecid # Ensembl ENST00000353782 ENSP00000311326; ENSG00000121270. [Q96J66-2] # Ensembl ENST00000356608 ENSP00000349017; ENSG00000121270. [Q96J66-1] # Ensembl ENST00000394747 ENSP00000378230; ENSG00000121270. [Q96J66-1] # Ensembl ENST00000394748 ENSP00000378231; ENSG00000121270. [Q96J66-1] # ExpressionAtlas Q96J66 baseline and differential # FUNCTION ABCCB_HUMAN Participates in physiological processes involving bile acids, conjugated steroids and cyclic nucleotides. Enhances the cellular extrusion of cAMP and cGMP. Stimulates the ATP-dependent uptake of a range of physiological and synthetic lipophilic anions, including the glutathione S-conjugates leukotriene C4 and dinitrophenyl S-glutathione, steroid sulfates such as dehydroepiandrosterone 3-sulfate (DHEAS) and estrone 3-sulfate, glucuronides such as estradiol 17-beta-D-glucuronide (E(2)17betaG), the monoanionic bile acids glycocholate and taurocholate, and methotrexate. Probably functions to secrete earwax. {ECO 0000269|PubMed 12764137, ECO 0000269|PubMed 15537867, ECO 0000269|PubMed 16444273}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IDA:UniProtKB. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0005524 ATP binding; IEA:UniProtKB-KW. # GO_function GO:0008514 organic anion transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0015216 purine nucleotide transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0043225 ATPase-coupled anion transmembrane transporter activity; TAS:Reactome. # GO_process GO:0015711 organic anion transport; IDA:UniProtKB. # GO_process GO:0015865 purine nucleotide transport; IDA:UniProtKB. # GO_process GO:0055085 transmembrane transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0055085 transmembrane transport # Gene3D 3.40.50.300 -; 2. # Genevisible Q96J66 HS # HGNC HGNC:14639 ABCC11 # InterPro IPR003439 ABC_transporter-like # InterPro IPR003593 AAA+_ATPase # InterPro IPR011527 ABC1_TM_dom # InterPro IPR017871 ABC_transporter_CS # InterPro IPR027417 P-loop_NTPase # InterPro IPR030251 ABCC11 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02000 Transporters # KEGG_Pathway ko02010 ABC transporters # MIM 117800 phenotype # MIM 607040 gene # Organism ABCCB_HUMAN Homo sapiens (Human) # PANTHER PTHR24223:SF168 PTHR24223:SF168; 2 # POLYMORPHISM The allele with Arg-180 is responsible for the dry earwax phenotype [MIM:117800]. Human earwax is a Mendelian trait consisting of wet and dry types. The wet earwax is brownish and sticky, whereas the dry type lacks cerumen. The wet cerumen phenotype is completely dominant. The dry type is seen frequently (80-95%) among East Asians, but uncommon (0-3%) in populations of European and African origins. Intermediate frequencies (30-50%) of the dry type are seen in populations of Southern Asia, the Pacific Islands, Central Asia and Asia Minor, as well as among the Native North American and Inuit of Asian ancestry. {ECO 0000269|PubMed:16444273}. # PROSITE PS00211 ABC_TRANSPORTER_1; 2 # PROSITE PS50893 ABC_TRANSPORTER_2; 2 # PROSITE PS50929 ABC_TM1F; 2 # Pfam PF00005 ABC_tran; 2 # Pfam PF00664 ABC_membrane; 2 # Proteomes UP000005640 Chromosome 16 # Reactome R-HSA-382556 ABC-family proteins mediated transport # RecName ABCCB_HUMAN ATP-binding cassette sub-family C member 11 # RefSeq NP_115972 NM_032583.3. [Q96J66-1] # RefSeq NP_149163 NM_033151.3. [Q96J66-1] # RefSeq NP_660187 NM_145186.2. [Q96J66-2] # RefSeq XP_016879284 XM_017023795.1. [Q96J66-1] # RefSeq XP_016879285 XM_017023796.1. [Q96J66-1] # RefSeq XP_016879286 XM_017023797.1. [Q96J66-1] # RefSeq XP_016879287 XM_017023798.1. [Q96J66-1] # RefSeq XP_016879288 XM_017023799.1. [Q96J66-1] # RefSeq XP_016879289 XM_017023800.1. [Q96J66-1] # SIMILARITY Belongs to the ABC transporter superfamily. ABCC family. Conjugate transporter (TC 3.A.1.208) subfamily. {ECO 0000305}. # SIMILARITY Contains 2 ABC transmembrane type-1 domains. {ECO:0000255|PROSITE-ProRule PRU00441}. # SIMILARITY Contains 2 ABC transporter domains. {ECO:0000255|PROSITE-ProRule PRU00434}. # SMART SM00382 AAA; 2 # SUBCELLULAR LOCATION ABCCB_HUMAN Membrane; Multi-pass membrane protein. # SUPFAM SSF52540 SSF52540; 2 # SUPFAM SSF90123 SSF90123; 2 # TCDB 3.A.1.208.13 the atp-binding cassette (abc) superfamily # TISSUE SPECIFICITY ABCCB_HUMAN Expressed in many tissues. Not expressed in kidney, spleen and colon. Highly expressed in breast cancer. Expressed at moderate levels in normal breast and testis and at very low levels in liver, brain and placenta. {ECO 0000269|PubMed 11483364, ECO 0000269|PubMed 11591886}. # UCSC uc002eff human. [Q96J66-1] # WEB RESOURCE ABCCB_HUMAN Name=ABCMdb; Note=Database for mutations in ABC proteins; URL="http //abcmutations.hegelab.org/proteinDetails?uniprot_id=Q96J66"; # WEB RESOURCE ABCCB_HUMAN Name=Protein Spotlight; Note=Of earwax and migration - Issue 67 of February 2006; URL="http //web.expasy.org/spotlight/back_issues/067"; # eggNOG COG1132 LUCA # eggNOG KOG0054 Eukaryota BLAST swissprot:ABCCB_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ABCCB_HUMAN COXPRESdb 85320 http://coxpresdb.jp/data/gene/85320.shtml CleanEx HS_ABCC11 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ABCC11 DOI 10.1006/bbrc.2001.5865 http://dx.doi.org/10.1006/bbrc.2001.5865 DOI 10.1016/S0378-1119(01)00572-8 http://dx.doi.org/10.1016/S0378-1119(01)00572-8 DOI 10.1038/ng1733 http://dx.doi.org/10.1038/ng1733 DOI 10.1074/jbc.M304059200 http://dx.doi.org/10.1074/jbc.M304059200 DOI 10.1124/mol.104.007138 http://dx.doi.org/10.1124/mol.104.007138 DrugBank DB00158 http://www.drugbank.ca/drugs/DB00158 DrugBank DB00286 http://www.drugbank.ca/drugs/DB00286 DrugBank DB00328 http://www.drugbank.ca/drugs/DB00328 DrugBank DB00563 http://www.drugbank.ca/drugs/DB00563 DrugBank DB01032 http://www.drugbank.ca/drugs/DB01032 EMBL AF352582 http://www.ebi.ac.uk/ena/data/view/AF352582 EMBL AF367202 http://www.ebi.ac.uk/ena/data/view/AF367202 EMBL AF411579 http://www.ebi.ac.uk/ena/data/view/AF411579 EMBL AY040219 http://www.ebi.ac.uk/ena/data/view/AY040219 Ensembl ENST00000353782 http://www.ensembl.org/id/ENST00000353782 Ensembl ENST00000356608 http://www.ensembl.org/id/ENST00000356608 Ensembl ENST00000394747 http://www.ensembl.org/id/ENST00000394747 Ensembl ENST00000394748 http://www.ensembl.org/id/ENST00000394748 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0008514 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008514 GO_function GO:0015216 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015216 GO_function GO:0043225 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043225 GO_process GO:0015711 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015711 GO_process GO:0015865 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015865 GO_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 3.40.50.300 http://www.cathdb.info/version/latest/superfamily/3.40.50.300 GeneCards ABCC11 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ABCC11 GeneID 85320 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=85320 GeneTree ENSGT00860000133687 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00860000133687 HGNC HGNC:14639 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:14639 HOVERGEN HBG108314 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG108314&db=HOVERGEN HPA CAB032513 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB032513 HPA HPA031980 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA031980 HPA HPA031981 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA031981 HPA HPA031982 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA031982 InParanoid Q96J66 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q96J66 InterPro IPR003439 http://www.ebi.ac.uk/interpro/entry/IPR003439 InterPro IPR003593 http://www.ebi.ac.uk/interpro/entry/IPR003593 InterPro IPR011527 http://www.ebi.ac.uk/interpro/entry/IPR011527 InterPro IPR017871 http://www.ebi.ac.uk/interpro/entry/IPR017871 InterPro IPR027417 http://www.ebi.ac.uk/interpro/entry/IPR027417 InterPro IPR030251 http://www.ebi.ac.uk/interpro/entry/IPR030251 Jabion 85320 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=85320 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Gene hsa:85320 http://www.genome.jp/dbget-bin/www_bget?hsa:85320 KEGG_Orthology KO:K05671 http://www.genome.jp/dbget-bin/www_bget?KO:K05671 KEGG_Pathway ko02010 http://www.genome.jp/kegg-bin/show_pathway?ko02010 MIM 117800 http://www.ncbi.nlm.nih.gov/omim/117800 MIM 607040 http://www.ncbi.nlm.nih.gov/omim/607040 OMA SFWWLSY http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=SFWWLSY OrthoDB EOG091G01TC http://cegg.unige.ch/orthodb/results?searchtext=EOG091G01TC PANTHER PTHR24223:SF168 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24223:SF168 PROSITE PS00211 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00211 PROSITE PS50893 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50893 PROSITE PS50929 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50929 PSORT swissprot:ABCCB_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ABCCB_HUMAN PSORT-B swissprot:ABCCB_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ABCCB_HUMAN PSORT2 swissprot:ABCCB_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ABCCB_HUMAN Pfam PF00005 http://pfam.xfam.org/family/PF00005 Pfam PF00664 http://pfam.xfam.org/family/PF00664 PharmGKB PA24393 http://www.pharmgkb.org/do/serve?objId=PA24393&objCls=Gene Phobius swissprot:ABCCB_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ABCCB_HUMAN PhylomeDB Q96J66 http://phylomedb.org/?seqid=Q96J66 ProteinModelPortal Q96J66 http://www.proteinmodelportal.org/query/uniprot/Q96J66 PubMed 11483364 http://www.ncbi.nlm.nih.gov/pubmed/11483364 PubMed 11591886 http://www.ncbi.nlm.nih.gov/pubmed/11591886 PubMed 11688999 http://www.ncbi.nlm.nih.gov/pubmed/11688999 PubMed 12764137 http://www.ncbi.nlm.nih.gov/pubmed/12764137 PubMed 15537867 http://www.ncbi.nlm.nih.gov/pubmed/15537867 PubMed 16444273 http://www.ncbi.nlm.nih.gov/pubmed/16444273 Reactome R-HSA-382556 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-382556 RefSeq NP_115972 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_115972 RefSeq NP_149163 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_149163 RefSeq NP_660187 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_660187 RefSeq XP_016879284 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016879284 RefSeq XP_016879285 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016879285 RefSeq XP_016879286 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016879286 RefSeq XP_016879287 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016879287 RefSeq XP_016879288 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016879288 RefSeq XP_016879289 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016879289 SMART SM00382 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00382 SMR Q96J66 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q96J66 STRING 9606.ENSP00000349017 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000349017&targetmode=cogs SUPFAM SSF52540 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52540 SUPFAM SSF90123 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF90123 TCDB 3.A.1.208.13 http://www.tcdb.org/search/result.php?tc=3.A.1.208.13 UCSC uc002eff http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002eff&org=rat UniGene Hs.652267 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.652267 UniProtKB ABCCB_HUMAN http://www.uniprot.org/uniprot/ABCCB_HUMAN UniProtKB-AC Q96J66 http://www.uniprot.org/uniprot/Q96J66 charge swissprot:ABCCB_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ABCCB_HUMAN eggNOG COG1132 http://eggnogapi.embl.de/nog_data/html/tree/COG1132 eggNOG KOG0054 http://eggnogapi.embl.de/nog_data/html/tree/KOG0054 epestfind swissprot:ABCCB_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ABCCB_HUMAN garnier swissprot:ABCCB_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ABCCB_HUMAN helixturnhelix swissprot:ABCCB_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ABCCB_HUMAN hmoment swissprot:ABCCB_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ABCCB_HUMAN iep swissprot:ABCCB_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ABCCB_HUMAN inforesidue swissprot:ABCCB_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ABCCB_HUMAN neXtProt NX_Q96J66 http://www.nextprot.org/db/entry/NX_Q96J66 octanol swissprot:ABCCB_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ABCCB_HUMAN pepcoil swissprot:ABCCB_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ABCCB_HUMAN pepdigest swissprot:ABCCB_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ABCCB_HUMAN pepinfo swissprot:ABCCB_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ABCCB_HUMAN pepnet swissprot:ABCCB_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ABCCB_HUMAN pepstats swissprot:ABCCB_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ABCCB_HUMAN pepwheel swissprot:ABCCB_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ABCCB_HUMAN pepwindow swissprot:ABCCB_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ABCCB_HUMAN sigcleave swissprot:ABCCB_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ABCCB_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS JPH2_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9BR39-1; Sequence=Displayed; Name=2; IsoId=Q9BR39-2; Sequence=VSP_002785, VSP_002786; Note=No experimental confirmation available.; # AltName JPH2_HUMAN Junctophilin type 2 # CCDS CCDS13325 -. [Q9BR39-1] # CCDS CCDS13326 -. [Q9BR39-2] # ChiTaRS JPH2 human # DISEASE JPH2_HUMAN Cardiomyopathy, familial hypertrophic 17 (CMH17) [MIM 613873] A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. {ECO 0000269|PubMed 17509612}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DOMAIN JPH2_HUMAN The MORN (membrane occupation and recognition nexus) repeats contribute to the plasma membrane binding, by interacting with phospholipids. Has affinity for phosphatidylserine, and phosphorylated phosphatidylinositols including PtdIns3P, PtdIns4P, PtdIns5P, PtdIns(3,5)P2 and PtdIns(3,4,5)P3. {ECO 0000269|PubMed 24001019}. # Ensembl ENST00000342272 ENSP00000344590; ENSG00000149596. [Q9BR39-2] # Ensembl ENST00000372980 ENSP00000362071; ENSG00000149596. [Q9BR39-1] # FUNCTION JPH2_HUMAN Junctophilins contribute to the formation of junctional membrane complexes (JMCs) which link the plasma membrane with the endoplasmic or sarcoplasmic reticulum in excitable cells. Provides a structural foundation for functional cross-talk between the cell surface and intracellular calcium release channels. JPH2 is necessary for proper intracellular Ca(2+) signaling in cardiac myocytes via its involvement in ryanodine receptor-mediated calcium ion release. Contributes to the construction of skeletal muscle triad junctions. {ECO 0000269|PubMed 20095964}. # GO_component GO:0005886 plasma membrane; IEA:UniProtKB-SubCell. # GO_component GO:0014701 junctional sarcoplasmic reticulum membrane; TAS:BHF-UCL. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0030018 Z disc; IEA:Ensembl. # GO_component GO:0030314 junctional membrane complex; IEA:Ensembl. # GO_function GO:0001786 phosphatidylserine binding; IDA:UniProtKB. # GO_function GO:0005546 phosphatidylinositol-4,5-bisphosphate binding; IDA:UniProtKB. # GO_function GO:0005547 phosphatidylinositol-3,4,5-trisphosphate binding; IDA:UniProtKB. # GO_function GO:0010314 phosphatidylinositol-5-phosphate binding; IDA:UniProtKB. # GO_function GO:0015278 calcium-release channel activity; IDA:UniProtKB. # GO_function GO:0032266 phosphatidylinositol-3-phosphate binding; IDA:UniProtKB. # GO_function GO:0070273 phosphatidylinositol-4-phosphate binding; IDA:UniProtKB. # GO_function GO:0070300 phosphatidic acid binding; IDA:UniProtKB. # GO_function GO:0080025 phosphatidylinositol-3,5-bisphosphate binding; IDA:UniProtKB. # GO_process GO:0055024 regulation of cardiac muscle tissue development; IEA:Ensembl. # GO_process GO:0055074 calcium ion homeostasis; IDA:UniProtKB. # GO_process GO:0060314 regulation of ryanodine-sensitive calcium-release channel activity; TAS:BHF-UCL. # GO_process GO:0060316 positive regulation of ryanodine-sensitive calcium-release channel activity; IDA:UniProtKB. # GO_process GO:0060402 calcium ion transport into cytosol; TAS:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043234 protein complex # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0008289 lipid binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # Genevisible Q9BR39 HS # HGNC HGNC:14202 JPH2 # InterPro IPR003409 MORN # InterPro IPR017191 Junctophilin # MIM 605267 gene # MIM 613873 phenotype # Organism JPH2_HUMAN Homo sapiens (Human) # Orphanet 155 Familial isolated hypertrophic cardiomyopathy # PIRSF PIRSF037387 Junctophilin # PTM JPH2_HUMAN Phosphorylation on Ser-165, probably by PKC, affects RYR1- mediated calcium ion release, interaction with TRPC3, and skeletal muscle myotubule development. {ECO 0000269|PubMed 20095964}. # Pfam PF02493 MORN; 8 # Proteomes UP000005640 Chromosome 20 # RecName JPH2_HUMAN Junctophilin-2 # RefSeq NP_065166 NM_020433.4. [Q9BR39-1] # RefSeq NP_787109 NM_175913.3. [Q9BR39-2] # SIMILARITY Belongs to the junctophilin family. {ECO 0000305}. # SIMILARITY Contains 8 MORN repeats. {ECO 0000305}. # SMART SM00698 MORN; 6 # SUBCELLULAR LOCATION JPH2_HUMAN Cell membrane {ECO 0000250}; Peripheral membrane protein {ECO 0000250}. Endoplasmic reticulum membrane {ECO 0000250}; Single-pass type IV membrane protein {ECO 0000250}. Sarcoplasmic reticulum membrane {ECO 0000250}; Single-pass type IV membrane protein {ECO 0000250}. Note=Localized predominantly on the plasma membrane. The transmembrane domain is anchored in endoplasmic/sarcoplasmic reticulum membrane, while the N-terminal part associates with the plasma membrane. In heart cells, it predominantly associates along Z lines within myocytes. In skeletal muscle, it is specifically localized at the junction of A and I bands (By similarity). {ECO 0000250}. # TISSUE SPECIFICITY Specifically expressed in skeletal muscle and heart. {ECO:0000269|PubMed 10891348}. # UCSC uc002xli human. [Q9BR39-1] # eggNOG COG4642 LUCA # eggNOG KOG0231 Eukaryota BLAST swissprot:JPH2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:JPH2_HUMAN BioCyc ZFISH:ENSG00000149596-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000149596-MONOMER COXPRESdb 57158 http://coxpresdb.jp/data/gene/57158.shtml CleanEx HS_JPH2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_JPH2 DOI 10.1006/bbrc.2000.3011 http://dx.doi.org/10.1006/bbrc.2000.3011 DOI 10.1007/s10038-007-0149-y http://dx.doi.org/10.1007/s10038-007-0149-y DOI 10.1016/j.cell.2006.09.026 http://dx.doi.org/10.1016/j.cell.2006.09.026 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1016/j.yjmcc.2007.04.006 http://dx.doi.org/10.1016/j.yjmcc.2007.04.006 DOI 10.1038/414865a http://dx.doi.org/10.1038/414865a DOI 10.1042/BJ20091225 http://dx.doi.org/10.1042/BJ20091225 DOI 10.1042/BJ20130591 http://dx.doi.org/10.1042/BJ20130591 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 EMBL AL034419 http://www.ebi.ac.uk/ena/data/view/AL034419 EMBL AL034419 http://www.ebi.ac.uk/ena/data/view/AL034419 EMBL AL035447 http://www.ebi.ac.uk/ena/data/view/AL035447 EMBL AL035447 http://www.ebi.ac.uk/ena/data/view/AL035447 EMBL AL035447 http://www.ebi.ac.uk/ena/data/view/AL035447 EMBL AL132999 http://www.ebi.ac.uk/ena/data/view/AL132999 EMBL CH471077 http://www.ebi.ac.uk/ena/data/view/CH471077 EMBL CH471077 http://www.ebi.ac.uk/ena/data/view/CH471077 Ensembl ENST00000342272 http://www.ensembl.org/id/ENST00000342272 Ensembl ENST00000372980 http://www.ensembl.org/id/ENST00000372980 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0014701 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014701 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0030018 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030018 GO_component GO:0030314 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030314 GO_function GO:0001786 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001786 GO_function GO:0005546 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005546 GO_function GO:0005547 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005547 GO_function GO:0010314 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010314 GO_function GO:0015278 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015278 GO_function GO:0032266 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032266 GO_function GO:0070273 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070273 GO_function GO:0070300 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070300 GO_function GO:0080025 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0080025 GO_process GO:0055024 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055024 GO_process GO:0055074 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055074 GO_process GO:0060314 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060314 GO_process GO:0060316 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060316 GO_process GO:0060402 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060402 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0008289 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008289 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GeneCards JPH2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=JPH2 GeneID 57158 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=57158 GeneTree ENSGT00730000110639 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00730000110639 H-InvDB HIX0015833 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0015833 HGNC HGNC:14202 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:14202 HOGENOM HOG000264244 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000264244&db=HOGENOM6 HOVERGEN HBG031648 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG031648&db=HOVERGEN HPA HPA052646 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA052646 InParanoid Q9BR39 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9BR39 InterPro IPR003409 http://www.ebi.ac.uk/interpro/entry/IPR003409 InterPro IPR017191 http://www.ebi.ac.uk/interpro/entry/IPR017191 Jabion 57158 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=57158 KEGG_Gene hsa:57158 http://www.genome.jp/dbget-bin/www_bget?hsa:57158 MIM 605267 http://www.ncbi.nlm.nih.gov/omim/605267 MIM 613873 http://www.ncbi.nlm.nih.gov/omim/613873 OMA HERETPR http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=HERETPR Orphanet 155 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=155 OrthoDB EOG091G03WX http://cegg.unige.ch/orthodb/results?searchtext=EOG091G03WX PSORT swissprot:JPH2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:JPH2_HUMAN PSORT-B swissprot:JPH2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:JPH2_HUMAN PSORT2 swissprot:JPH2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:JPH2_HUMAN Pfam PF02493 http://pfam.xfam.org/family/PF02493 PharmGKB PA29999 http://www.pharmgkb.org/do/serve?objId=PA29999&objCls=Gene Phobius swissprot:JPH2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:JPH2_HUMAN PhylomeDB Q9BR39 http://phylomedb.org/?seqid=Q9BR39 ProteinModelPortal Q9BR39 http://www.proteinmodelportal.org/query/uniprot/Q9BR39 PubMed 10891348 http://www.ncbi.nlm.nih.gov/pubmed/10891348 PubMed 11780052 http://www.ncbi.nlm.nih.gov/pubmed/11780052 PubMed 17081983 http://www.ncbi.nlm.nih.gov/pubmed/17081983 PubMed 17476457 http://www.ncbi.nlm.nih.gov/pubmed/17476457 PubMed 17509612 http://www.ncbi.nlm.nih.gov/pubmed/17509612 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 20095964 http://www.ncbi.nlm.nih.gov/pubmed/20095964 PubMed 24001019 http://www.ncbi.nlm.nih.gov/pubmed/24001019 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 RefSeq NP_065166 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_065166 RefSeq NP_787109 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_787109 SMART SM00698 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00698 SMR Q9BR39 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9BR39 STRING 9606.ENSP00000362071 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000362071&targetmode=cogs UCSC uc002xli http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002xli&org=rat UniGene Hs.441737 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.441737 UniProtKB JPH2_HUMAN http://www.uniprot.org/uniprot/JPH2_HUMAN UniProtKB-AC Q9BR39 http://www.uniprot.org/uniprot/Q9BR39 charge swissprot:JPH2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:JPH2_HUMAN eggNOG COG4642 http://eggnogapi.embl.de/nog_data/html/tree/COG4642 eggNOG KOG0231 http://eggnogapi.embl.de/nog_data/html/tree/KOG0231 epestfind swissprot:JPH2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:JPH2_HUMAN garnier swissprot:JPH2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:JPH2_HUMAN helixturnhelix swissprot:JPH2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:JPH2_HUMAN hmoment swissprot:JPH2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:JPH2_HUMAN iep swissprot:JPH2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:JPH2_HUMAN inforesidue swissprot:JPH2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:JPH2_HUMAN neXtProt NX_Q9BR39 http://www.nextprot.org/db/entry/NX_Q9BR39 octanol swissprot:JPH2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:JPH2_HUMAN pepcoil swissprot:JPH2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:JPH2_HUMAN pepdigest swissprot:JPH2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:JPH2_HUMAN pepinfo swissprot:JPH2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:JPH2_HUMAN pepnet swissprot:JPH2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:JPH2_HUMAN pepstats swissprot:JPH2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:JPH2_HUMAN pepwheel swissprot:JPH2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:JPH2_HUMAN pepwindow swissprot:JPH2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:JPH2_HUMAN sigcleave swissprot:JPH2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:JPH2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS SFXN4_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q6P4A7-1; Sequence=Displayed; Name=2; IsoId=Q6P4A7-2; Sequence=VSP_014609, VSP_014610; Note=No experimental confirmation available.; Name=3; IsoId=Q6P4A7-3; Sequence=VSP_014608; Note=No experimental confirmation available.; # AltName SFXN4_HUMAN Breast cancer resistance marker 1 # BioGrid 125645 9 # CCDS CCDS7610 -. [Q6P4A7-1] # ChiTaRS SFXN4 human # DISEASE SFXN4_HUMAN Combined oxidative phosphorylation deficiency 18 (COXPD18) [MIM 615578] An autosomal recessive disorder of mitochondrial dysfunction characterized by intrauterine growth retardation, hypotonia, visual impairment, speech delay, and lactic acidosis associated with decreased mitochondrial respiratory chain activity. Affected patients may also show hematologic abnormalities, mainly macrocytic anemia. {ECO 0000269|PubMed 24119684}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000355697 ENSP00000347924; ENSG00000183605. [Q6P4A7-1] # ExpressionAtlas Q6P4A7 baseline and differential # FUNCTION SFXN4_HUMAN Potential iron transporter. {ECO 0000250}. # GO_component GO:0005743 mitochondrial inner membrane; IEA:UniProtKB-SubCell. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0043231 intracellular membrane-bounded organelle; IDA:HPA. # GO_function GO:0015075 ion transmembrane transporter activity; IEA:InterPro. # GO_process GO:0055072 iron ion homeostasis; IEA:UniProtKB-KW. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0043226 organelle # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0042592 homeostatic process # Genevisible Q6P4A7 HS # HGNC HGNC:16088 SFXN4 # IntAct Q6P4A7 7 # InterPro IPR004686 Mtc # InterPro IPR028825 SFXN4 # MIM 615564 gene # MIM 615578 phenotype # Organism SFXN4_HUMAN Homo sapiens (Human) # Orphanet 391348 Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome # PANTHER PTHR11153 PTHR11153 # PANTHER PTHR11153:SF3 PTHR11153:SF3 # Pfam PF03820 Mtc # Proteomes UP000005640 Chromosome 10 # RecName SFXN4_HUMAN Sideroflexin-4 # RefSeq NP_998814 NM_213649.1. [Q6P4A7-1] # RefSeq XP_005269583 XM_005269526.2. [Q6P4A7-3] # RefSeq XP_005269584 XM_005269527.1. [Q6P4A7-3] # RefSeq XP_011537584 XM_011539282.2. [Q6P4A7-3] # SIMILARITY Belongs to the sideroflexin family. {ECO 0000305}. # SUBCELLULAR LOCATION SFXN4_HUMAN Mitochondrion inner membrane {ECO 0000269|PubMed 24119684}; Multi-pass membrane protein {ECO 0000269|PubMed 24119684}. # TCDB 2.A.54.1 the mitochondrial tricarboxylate carrier (mtc) family # UCSC uc001leb human. [Q6P4A7-1] # eggNOG ENOG410YU8V LUCA # eggNOG KOG3767 Eukaryota BLAST swissprot:SFXN4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SFXN4_HUMAN BioCyc ZFISH:G66-33038-MONOMER http://biocyc.org/getid?id=ZFISH:G66-33038-MONOMER COXPRESdb 119559 http://coxpresdb.jp/data/gene/119559.shtml CleanEx HS_SFXN4 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SFXN4 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1016/j.ajhg.2013.09.011 http://dx.doi.org/10.1016/j.ajhg.2013.09.011 DOI 10.1021/ac9004309 http://dx.doi.org/10.1021/ac9004309 DOI 10.1038/nature02462 http://dx.doi.org/10.1038/nature02462 DOI 10.1073/pnas.1210303109 http://dx.doi.org/10.1073/pnas.1210303109 DOI 10.1080/10425170310001605491 http://dx.doi.org/10.1080/10425170310001605491 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1175371 http://dx.doi.org/10.1126/science.1175371 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AF336980 http://www.ebi.ac.uk/ena/data/view/AF336980 EMBL AL355598 http://www.ebi.ac.uk/ena/data/view/AL355598 EMBL AL355598 http://www.ebi.ac.uk/ena/data/view/AL355598 EMBL AL355861 http://www.ebi.ac.uk/ena/data/view/AL355861 EMBL AL355861 http://www.ebi.ac.uk/ena/data/view/AL355861 EMBL AY269785 http://www.ebi.ac.uk/ena/data/view/AY269785 EMBL BC063562 http://www.ebi.ac.uk/ena/data/view/BC063562 Ensembl ENST00000355697 http://www.ensembl.org/id/ENST00000355697 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0043231 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043231 GO_function GO:0015075 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015075 GO_process GO:0055072 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055072 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GeneCards SFXN4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SFXN4 GeneID 119559 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=119559 GeneTree ENSGT00390000002026 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000002026 HGNC HGNC:16088 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:16088 HOGENOM HOG000010305 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000010305&db=HOGENOM6 HOVERGEN HBG104924 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG104924&db=HOVERGEN HPA HPA018028 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA018028 HPA HPA020872 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA020872 InParanoid Q6P4A7 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q6P4A7 IntAct Q6P4A7 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q6P4A7* InterPro IPR004686 http://www.ebi.ac.uk/interpro/entry/IPR004686 InterPro IPR028825 http://www.ebi.ac.uk/interpro/entry/IPR028825 Jabion 119559 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=119559 KEGG_Gene hsa:119559 http://www.genome.jp/dbget-bin/www_bget?hsa:119559 MIM 615564 http://www.ncbi.nlm.nih.gov/omim/615564 MIM 615578 http://www.ncbi.nlm.nih.gov/omim/615578 OMA RFWITER http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=RFWITER Orphanet 391348 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=391348 OrthoDB EOG091G0CUA http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0CUA PANTHER PTHR11153 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11153 PANTHER PTHR11153:SF3 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11153:SF3 PSORT swissprot:SFXN4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SFXN4_HUMAN PSORT-B swissprot:SFXN4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SFXN4_HUMAN PSORT2 swissprot:SFXN4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SFXN4_HUMAN Pfam PF03820 http://pfam.xfam.org/family/PF03820 PharmGKB PA38093 http://www.pharmgkb.org/do/serve?objId=PA38093&objCls=Gene Phobius swissprot:SFXN4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SFXN4_HUMAN PhylomeDB Q6P4A7 http://phylomedb.org/?seqid=Q6P4A7 ProteinModelPortal Q6P4A7 http://www.proteinmodelportal.org/query/uniprot/Q6P4A7 PubMed 14756423 http://www.ncbi.nlm.nih.gov/pubmed/14756423 PubMed 15164054 http://www.ncbi.nlm.nih.gov/pubmed/15164054 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 19413330 http://www.ncbi.nlm.nih.gov/pubmed/19413330 PubMed 19608861 http://www.ncbi.nlm.nih.gov/pubmed/19608861 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 22814378 http://www.ncbi.nlm.nih.gov/pubmed/22814378 PubMed 24119684 http://www.ncbi.nlm.nih.gov/pubmed/24119684 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 RefSeq NP_998814 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_998814 RefSeq XP_005269583 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005269583 RefSeq XP_005269584 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005269584 RefSeq XP_011537584 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011537584 STRING 9606.ENSP00000347924 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000347924&targetmode=cogs TCDB 2.A.54.1 http://www.tcdb.org/search/result.php?tc=2.A.54.1 UCSC uc001leb http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001leb&org=rat UniGene Hs.655168 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.655168 UniProtKB SFXN4_HUMAN http://www.uniprot.org/uniprot/SFXN4_HUMAN UniProtKB-AC Q6P4A7 http://www.uniprot.org/uniprot/Q6P4A7 charge swissprot:SFXN4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SFXN4_HUMAN eggNOG ENOG410YU8V http://eggnogapi.embl.de/nog_data/html/tree/ENOG410YU8V eggNOG KOG3767 http://eggnogapi.embl.de/nog_data/html/tree/KOG3767 epestfind swissprot:SFXN4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SFXN4_HUMAN garnier swissprot:SFXN4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SFXN4_HUMAN helixturnhelix swissprot:SFXN4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SFXN4_HUMAN hmoment swissprot:SFXN4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SFXN4_HUMAN iep swissprot:SFXN4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SFXN4_HUMAN inforesidue swissprot:SFXN4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SFXN4_HUMAN neXtProt NX_Q6P4A7 http://www.nextprot.org/db/entry/NX_Q6P4A7 octanol swissprot:SFXN4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SFXN4_HUMAN pepcoil swissprot:SFXN4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SFXN4_HUMAN pepdigest swissprot:SFXN4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SFXN4_HUMAN pepinfo swissprot:SFXN4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SFXN4_HUMAN pepnet swissprot:SFXN4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SFXN4_HUMAN pepstats swissprot:SFXN4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SFXN4_HUMAN pepwheel swissprot:SFXN4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SFXN4_HUMAN pepwindow swissprot:SFXN4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SFXN4_HUMAN sigcleave swissprot:SFXN4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SFXN4_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS TMCO6_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96DC7-1; Sequence=Displayed; Name=2; IsoId=Q96DC7-2; Sequence=VSP_028249; Note=No experimental confirmation available.; # BioGrid 120647 8 # CCDS CCDS4233 -. [Q96DC7-1] # CCDS CCDS75320 -. [Q96DC7-2] # ChiTaRS TMCO6 human # Ensembl ENST00000252100 ENSP00000252100; ENSG00000113119. [Q96DC7-2] # Ensembl ENST00000394671 ENSP00000378166; ENSG00000113119. [Q96DC7-1] # ExpressionAtlas Q96DC7 baseline and differential # GO_component GO:0005634 nucleus; IEA:InterPro. # GO_component GO:0005737 cytoplasm; IEA:InterPro. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0008565 protein transporter activity; IEA:InterPro. # GO_process GO:0006606 protein import into nucleus; IEA:InterPro. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005737 cytoplasm # GOslim_function GO:0008565 protein transporter activity # GOslim_process GO:0006913 nucleocytoplasmic transport # Gene3D 1.25.10.10 -; 1. # Genevisible Q96DC7 HS # HGNC HGNC:28814 TMCO6 # INTERACTION TMCO6_HUMAN Q9UMX0 UBQLN1; NbExp=3; IntAct=EBI-10284552, EBI-741480; Q9UMX0-2 UBQLN1; NbExp=3; IntAct=EBI-10284552, EBI-10173939; # InterPro IPR000225 Armadillo # InterPro IPR002652 Importin-a_IBB # InterPro IPR011989 ARM-like # InterPro IPR016024 ARM-type_fold # Organism TMCO6_HUMAN Homo sapiens (Human) # Proteomes UP000005640 Chromosome 5 # RecName TMCO6_HUMAN Transmembrane and coiled-coil domain-containing protein 6 # RefSeq NP_001287909 NM_001300980.1. [Q96DC7-2] # RefSeq NP_001287911 NM_001300982.1 # RefSeq NP_060972 NM_018502.4. [Q96DC7-1] # RefSeq XP_011535970 XM_011537668.2 # RefSeq XP_016865109 XM_017009620.1 # SEQUENCE CAUTION TMCO6_HUMAN Sequence=AAF69602.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA.; Evidence={ECO 0000305}; Sequence=AAH01910.1; Type=Erroneous initiation; Evidence={ECO 0000305}; Sequence=AAH09618.1; Type=Erroneous initiation; Evidence={ECO 0000305}; Sequence=EAW62034.1; Type=Erroneous gene model prediction; Evidence={ECO 0000305}; # SMART SM00185 ARM; 5 # SUBCELLULAR LOCATION TMCO6_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # SUPFAM SSF48371 SSF48371 # UCSC uc003lgl human. [Q96DC7-1] # eggNOG ENOG410IE0G Eukaryota # eggNOG ENOG41126GB LUCA BLAST swissprot:TMCO6_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:TMCO6_HUMAN BioCyc ZFISH:ENSG00000113119-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000113119-MONOMER COXPRESdb 55374 http://coxpresdb.jp/data/gene/55374.shtml CleanEx HS_TMCO6 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_TMCO6 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AF119848 http://www.ebi.ac.uk/ena/data/view/AF119848 EMBL AK097088 http://www.ebi.ac.uk/ena/data/view/AK097088 EMBL BC001910 http://www.ebi.ac.uk/ena/data/view/BC001910 EMBL BC009618 http://www.ebi.ac.uk/ena/data/view/BC009618 EMBL CH471062 http://www.ebi.ac.uk/ena/data/view/CH471062 Ensembl ENST00000252100 http://www.ensembl.org/id/ENST00000252100 Ensembl ENST00000394671 http://www.ensembl.org/id/ENST00000394671 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GO_process GO:0006606 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006606 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_process GO:0006913 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006913 Gene3D 1.25.10.10 http://www.cathdb.info/version/latest/superfamily/1.25.10.10 GeneCards TMCO6 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=TMCO6 GeneID 55374 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=55374 GeneTree ENSGT00390000008104 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000008104 HGNC HGNC:28814 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:28814 HOGENOM HOG000154636 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000154636&db=HOGENOM6 HOVERGEN HBG108588 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG108588&db=HOVERGEN HPA HPA037473 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA037473 HPA HPA037474 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA037474 InParanoid Q96DC7 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q96DC7 IntAct Q96DC7 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q96DC7* InterPro IPR000225 http://www.ebi.ac.uk/interpro/entry/IPR000225 InterPro IPR002652 http://www.ebi.ac.uk/interpro/entry/IPR002652 InterPro IPR011989 http://www.ebi.ac.uk/interpro/entry/IPR011989 InterPro IPR016024 http://www.ebi.ac.uk/interpro/entry/IPR016024 Jabion 55374 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=55374 KEGG_Gene hsa:55374 http://www.genome.jp/dbget-bin/www_bget?hsa:55374 MINT MINT-1453411 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1453411 OMA ASTLPQH http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=ASTLPQH OrthoDB EOG091G055O http://cegg.unige.ch/orthodb/results?searchtext=EOG091G055O PSORT swissprot:TMCO6_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:TMCO6_HUMAN PSORT-B swissprot:TMCO6_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:TMCO6_HUMAN PSORT2 swissprot:TMCO6_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:TMCO6_HUMAN PharmGKB PA162405810 http://www.pharmgkb.org/do/serve?objId=PA162405810&objCls=Gene Phobius swissprot:TMCO6_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:TMCO6_HUMAN PhylomeDB Q96DC7 http://phylomedb.org/?seqid=Q96DC7 ProteinModelPortal Q96DC7 http://www.proteinmodelportal.org/query/uniprot/Q96DC7 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 RefSeq NP_001287909 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001287909 RefSeq NP_001287911 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001287911 RefSeq NP_060972 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_060972 RefSeq XP_011535970 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011535970 RefSeq XP_016865109 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016865109 SMART SM00185 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00185 STRING 9606.ENSP00000378166 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000378166&targetmode=cogs SUPFAM SSF48371 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48371 UCSC uc003lgl http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003lgl&org=rat UniGene Hs.534333 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.534333 UniProtKB TMCO6_HUMAN http://www.uniprot.org/uniprot/TMCO6_HUMAN UniProtKB-AC Q96DC7 http://www.uniprot.org/uniprot/Q96DC7 charge swissprot:TMCO6_HUMAN http://rest.g-language.org/emboss/charge/swissprot:TMCO6_HUMAN eggNOG ENOG410IE0G http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IE0G eggNOG ENOG41126GB http://eggnogapi.embl.de/nog_data/html/tree/ENOG41126GB epestfind swissprot:TMCO6_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:TMCO6_HUMAN garnier swissprot:TMCO6_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:TMCO6_HUMAN helixturnhelix swissprot:TMCO6_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:TMCO6_HUMAN hmoment swissprot:TMCO6_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:TMCO6_HUMAN iep swissprot:TMCO6_HUMAN http://rest.g-language.org/emboss/iep/swissprot:TMCO6_HUMAN inforesidue swissprot:TMCO6_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:TMCO6_HUMAN neXtProt NX_Q96DC7 http://www.nextprot.org/db/entry/NX_Q96DC7 octanol swissprot:TMCO6_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:TMCO6_HUMAN pepcoil swissprot:TMCO6_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:TMCO6_HUMAN pepdigest swissprot:TMCO6_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:TMCO6_HUMAN pepinfo swissprot:TMCO6_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:TMCO6_HUMAN pepnet swissprot:TMCO6_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:TMCO6_HUMAN pepstats swissprot:TMCO6_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:TMCO6_HUMAN pepwheel swissprot:TMCO6_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:TMCO6_HUMAN pepwindow swissprot:TMCO6_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:TMCO6_HUMAN sigcleave swissprot:TMCO6_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:TMCO6_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS RHAG_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q02094-1; Sequence=Displayed; Name=2; IsoId=Q02094-2; Sequence=VSP_047629, VSP_047630; # AltName RHAG_HUMAN CD241 # AltName RHAG_HUMAN Erythrocyte membrane glycoprotein Rh50 # AltName RHAG_HUMAN Erythrocyte plasma membrane 50 kDa glycoprotein # AltName RHAG_HUMAN Rhesus blood group family type A glycoprotein # AltName RHAG_HUMAN Rhesus blood group-associated ammonia channel # AltName RHAG_HUMAN Rhesus blood group-associated glycoprotein # CCDS CCDS4927 -. [Q02094-1] # ChiTaRS RHAG human # DISEASE RHAG_HUMAN Overhydrated hereditary stomatocytosis (OHST) [MIM 185000] An autosomal dominant disorder of red cell membrane permeability to monovalent cations, characterized by macrocytic hemolytic anemia of fluctuating severity, circulating erythrocytes with slit-like lucencies (stomata) evident on fixed, stained peripheral blood smears. OHST red cells exhibit cation leak, resulting in elevated cell sodium content with reduced potassium content. The disease is marked by splenomegaly or hepatosplenomegaly, cholelithiasis and a strong tendency for iron overload. {ECO 0000269|PubMed 18931342, ECO 0000269|PubMed 21849667, ECO 0000269|PubMed 22012326}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE RHAG_HUMAN Regulator type Rh-null hemolytic anemia (RHN) [MIM 268150] Form of chronic hemolytic anemia in which the red blood cells have a stomatocytosis and spherocytosis morphology, an increased osmotic fragility, an altered ion transport system, and abnormal membrane phospholipid organization. {ECO 0000269|PubMed 10467273, ECO 0000269|PubMed 8563755, ECO 0000269|PubMed 9454778, ECO 0000269|PubMed 9716608}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000371175 ENSP00000360217; ENSG00000112077. [Q02094-1] # ExpressionAtlas Q02094 baseline and differential # FUNCTION RHAG_HUMAN Associated with rhesus blood group antigen expression (PubMed 19744193). May be part of an oligomeric complex which is likely to have a transport or channel function in the erythrocyte membrane (PubMed 11062476, PubMed 11861637). Involved in ammonia transport across the erythrocyte membrane (PubMed 21849667, PubMed 22012326). Seems to act in monovalent cation transport (PubMed 18931342, PubMed 21849667). {ECO 0000269|PubMed 11062476, ECO 0000269|PubMed 11861637, ECO 0000269|PubMed 18931342, ECO 0000269|PubMed 19744193, ECO 0000269|PubMed 21849667, ECO 0000269|PubMed 22012326}. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_function GO:0008519 ammonium transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0022840 leak channel activity; IDA:UniProtKB. # GO_function GO:0030506 ankyrin binding; IPI:UniProtKB. # GO_function GO:0035379 carbon dioxide transmembrane transporter activity; TAS:Reactome. # GO_process GO:0006873 cellular ion homeostasis; IDA:UniProtKB. # GO_process GO:0015670 carbon dioxide transport; IDA:UniProtKB. # GO_process GO:0015672 monovalent inorganic cation transport; IDA:UniProtKB. # GO_process GO:0015695 organic cation transport; IBA:GO_Central. # GO_process GO:0015696 ammonium transport; IDA:UniProtKB. # GO_process GO:0015701 bicarbonate transport; TAS:Reactome. # GO_process GO:0019740 nitrogen utilization; IBA:GO_Central. # GO_process GO:0048821 erythrocyte development; IEA:Ensembl. # GO_process GO:0060586 multicellular organismal iron ion homeostasis; IEA:Ensembl. # GO_process GO:0072488 ammonium transmembrane transport; IMP:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0008092 cytoskeletal protein binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.10.3430.10 -; 1. # Genevisible Q02094 HS # HGNC HGNC:10006 RHAG # InterPro IPR001905 Ammonium_transpt # InterPro IPR002229 RhesusRHD # InterPro IPR024041 NH4_transpt_AmtB-like_dom # InterPro IPR029020 Ammonium/urea_transptr # KEGG_Brite ko02001 Solute carrier family # KEGG_Brite ko04090 Cellular antigens # KEGG_Disease H00232 [Hematologic disease] Familial pseudohyperkalemia (FP) # KEGG_Disease H01214 [Hematologic disease] Rh-deficiency syndrome # MIM 180297 gene # MIM 185000 phenotype # MIM 268150 phenotype # Organism RHAG_HUMAN Homo sapiens (Human) # Orphanet 3203 Overhydrated hereditary stomatocytosis # Orphanet 71275 Rh deficiency syndrome # PANTHER PTHR11730 PTHR11730 # PIR S29124 S29124 # PRINTS PR00342 RHESUSRHD # PTM RHAG_HUMAN Glycoylated. {ECO 0000269|PubMed 18931342, ECO 0000269|PubMed 22012326}. # Pfam PF00909 Ammonium_transp # Proteomes UP000005640 Chromosome 6 # Reactome R-HSA-1237044 Erythrocytes take up carbon dioxide and release oxygen # Reactome R-HSA-1247673 Erythrocytes take up oxygen and release carbon dioxide # Reactome R-HSA-444411 Rhesus glycoproteins mediate ammonium transport # RecName RHAG_HUMAN Ammonium transporter Rh type A # RefSeq NP_000315 NM_000324.2. [Q02094-1] # SIMILARITY Belongs to the ammonium transporter (TC 2.A.49) family. Rh subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION RHAG_HUMAN Membrane {ECO 0000269|PubMed 18931342, ECO 0000269|PubMed 22012326}; Multi-pass membrane protein. # SUBUNIT RHAG_HUMAN Heterotetramer. # SUPFAM SSF111352 SSF111352 # TCDB 1.A.11.4 the ammonium transporter channel (amt) family # TISSUE SPECIFICITY RHAG_HUMAN Erythrocytes. {ECO 0000269|PubMed 18931342, ECO 0000269|PubMed 22012326, ECO 0000269|PubMed 9473510}. # UCSC uc003ozk human. [Q02094-1] # eggNOG ENOG410XTF8 LUCA # eggNOG KOG3796 Eukaryota BLAST swissprot:RHAG_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:RHAG_HUMAN BioCyc ZFISH:ENSG00000112077-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000112077-MONOMER COXPRESdb 6005 http://coxpresdb.jp/data/gene/6005.shtml CleanEx HS_RHAG http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_RHAG DOI 10.1002/(SICI)1096-8652(199909)62:1<25::AID-AJH5>3.0.CO http://dx.doi.org/10.1002/(SICI)1096-8652(199909)62:1<25::AID-AJH5>3.0.CO DOI 10.1006/bbrc.1997.8023 http://dx.doi.org/10.1006/bbrc.1997.8023 DOI 10.1038/81656 http://dx.doi.org/10.1038/81656 DOI 10.1038/nature02055 http://dx.doi.org/10.1038/nature02055 DOI 10.1038/ng0296-168 http://dx.doi.org/10.1038/ng0296-168 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1042/bj2561043 http://dx.doi.org/10.1042/bj2561043 DOI 10.1042/bj2870223 http://dx.doi.org/10.1042/bj2870223 DOI 10.1074/jbc.273.4.2207 http://dx.doi.org/10.1074/jbc.273.4.2207 DOI 10.1074/jbc.C200060200 http://dx.doi.org/10.1074/jbc.C200060200 DOI 10.1074/jbc.M311853200 http://dx.doi.org/10.1074/jbc.M311853200 DOI 10.1111/j.1423-0410.2009.01243.x http://dx.doi.org/10.1111/j.1423-0410.2009.01243.x DOI 10.1152/ajpcell.00054.2011 http://dx.doi.org/10.1152/ajpcell.00054.2011 DOI 10.1152/ajpcell.00092.2011 http://dx.doi.org/10.1152/ajpcell.00092.2011 DOI 10.1182/blood-2008-07-171140 http://dx.doi.org/10.1182/blood-2008-07-171140 EMBL AF031548 http://www.ebi.ac.uk/ena/data/view/AF031548 EMBL AF031549 http://www.ebi.ac.uk/ena/data/view/AF031549 EMBL AF237382 http://www.ebi.ac.uk/ena/data/view/AF237382 EMBL AF237383 http://www.ebi.ac.uk/ena/data/view/AF237383 EMBL AF237384 http://www.ebi.ac.uk/ena/data/view/AF237384 EMBL AF237385 http://www.ebi.ac.uk/ena/data/view/AF237385 EMBL AF237386 http://www.ebi.ac.uk/ena/data/view/AF237386 EMBL AF237387 http://www.ebi.ac.uk/ena/data/view/AF237387 EMBL AK313505 http://www.ebi.ac.uk/ena/data/view/AK313505 EMBL AL121950 http://www.ebi.ac.uk/ena/data/view/AL121950 EMBL AL121950 http://www.ebi.ac.uk/ena/data/view/AL121950 EMBL AL590244 http://www.ebi.ac.uk/ena/data/view/AL590244 EMBL AL590244 http://www.ebi.ac.uk/ena/data/view/AL590244 EMBL CH471081 http://www.ebi.ac.uk/ena/data/view/CH471081 EMBL CH471081 http://www.ebi.ac.uk/ena/data/view/CH471081 EMBL X64594 http://www.ebi.ac.uk/ena/data/view/X64594 Ensembl ENST00000371175 http://www.ensembl.org/id/ENST00000371175 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_function GO:0008519 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008519 GO_function GO:0022840 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022840 GO_function GO:0030506 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030506 GO_function GO:0035379 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035379 GO_process GO:0006873 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006873 GO_process GO:0015670 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015670 GO_process GO:0015672 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015672 GO_process GO:0015695 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015695 GO_process GO:0015696 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015696 GO_process GO:0015701 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015701 GO_process GO:0019740 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019740 GO_process GO:0048821 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048821 GO_process GO:0060586 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060586 GO_process GO:0072488 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0072488 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0008092 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008092 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.10.3430.10 http://www.cathdb.info/version/latest/superfamily/1.10.3430.10 GeneCards RHAG http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=RHAG GeneID 6005 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6005 GeneTree ENSGT00390000005787 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000005787 H-InvDB HIX0005947 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0005947 HGNC HGNC:10006 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10006 HOGENOM HOG000007656 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000007656&db=HOGENOM6 HOVERGEN HBG004374 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG004374&db=HOVERGEN HPA HPA055331 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA055331 InParanoid Q02094 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q02094 InterPro IPR001905 http://www.ebi.ac.uk/interpro/entry/IPR001905 InterPro IPR002229 http://www.ebi.ac.uk/interpro/entry/IPR002229 InterPro IPR024041 http://www.ebi.ac.uk/interpro/entry/IPR024041 InterPro IPR029020 http://www.ebi.ac.uk/interpro/entry/IPR029020 Jabion 6005 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6005 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Brite ko04090 http://www.genome.jp/dbget-bin/www_bget?ko04090 KEGG_Disease H00232 http://www.genome.jp/dbget-bin/www_bget?H00232 KEGG_Disease H01214 http://www.genome.jp/dbget-bin/www_bget?H01214 KEGG_Gene hsa:6005 http://www.genome.jp/dbget-bin/www_bget?hsa:6005 KEGG_Orthology KO:K06580 http://www.genome.jp/dbget-bin/www_bget?KO:K06580 MIM 180297 http://www.ncbi.nlm.nih.gov/omim/180297 MIM 185000 http://www.ncbi.nlm.nih.gov/omim/185000 MIM 268150 http://www.ncbi.nlm.nih.gov/omim/268150 OMA VTAYACS http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=VTAYACS Orphanet 3203 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=3203 Orphanet 71275 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=71275 PANTHER PTHR11730 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11730 PRINTS PR00342 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00342 PSORT swissprot:RHAG_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:RHAG_HUMAN PSORT-B swissprot:RHAG_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:RHAG_HUMAN PSORT2 swissprot:RHAG_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:RHAG_HUMAN Pfam PF00909 http://pfam.xfam.org/family/PF00909 PharmGKB PA34381 http://www.pharmgkb.org/do/serve?objId=PA34381&objCls=Gene Phobius swissprot:RHAG_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:RHAG_HUMAN PhylomeDB Q02094 http://phylomedb.org/?seqid=Q02094 ProteinModelPortal Q02094 http://www.proteinmodelportal.org/query/uniprot/Q02094 PubMed 10467273 http://www.ncbi.nlm.nih.gov/pubmed/10467273 PubMed 11062476 http://www.ncbi.nlm.nih.gov/pubmed/11062476 PubMed 11861637 http://www.ncbi.nlm.nih.gov/pubmed/11861637 PubMed 1417776 http://www.ncbi.nlm.nih.gov/pubmed/1417776 PubMed 14574404 http://www.ncbi.nlm.nih.gov/pubmed/14574404 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 14966114 http://www.ncbi.nlm.nih.gov/pubmed/14966114 PubMed 18931342 http://www.ncbi.nlm.nih.gov/pubmed/18931342 PubMed 19744193 http://www.ncbi.nlm.nih.gov/pubmed/19744193 PubMed 21849667 http://www.ncbi.nlm.nih.gov/pubmed/21849667 PubMed 22012326 http://www.ncbi.nlm.nih.gov/pubmed/22012326 PubMed 3146980 http://www.ncbi.nlm.nih.gov/pubmed/3146980 PubMed 8563755 http://www.ncbi.nlm.nih.gov/pubmed/8563755 PubMed 9442063 http://www.ncbi.nlm.nih.gov/pubmed/9442063 PubMed 9454778 http://www.ncbi.nlm.nih.gov/pubmed/9454778 PubMed 9473510 http://www.ncbi.nlm.nih.gov/pubmed/9473510 PubMed 9716608 http://www.ncbi.nlm.nih.gov/pubmed/9716608 Reactome R-HSA-1237044 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1237044 Reactome R-HSA-1247673 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1247673 Reactome R-HSA-444411 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-444411 RefSeq NP_000315 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000315 STRING 9606.ENSP00000360217 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000360217&targetmode=cogs SUPFAM SSF111352 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF111352 TCDB 1.A.11.4 http://www.tcdb.org/search/result.php?tc=1.A.11.4 UCSC uc003ozk http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003ozk&org=rat UniGene Hs.120950 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.120950 UniProtKB RHAG_HUMAN http://www.uniprot.org/uniprot/RHAG_HUMAN UniProtKB-AC Q02094 http://www.uniprot.org/uniprot/Q02094 charge swissprot:RHAG_HUMAN http://rest.g-language.org/emboss/charge/swissprot:RHAG_HUMAN eggNOG ENOG410XTF8 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XTF8 eggNOG KOG3796 http://eggnogapi.embl.de/nog_data/html/tree/KOG3796 epestfind swissprot:RHAG_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:RHAG_HUMAN garnier swissprot:RHAG_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:RHAG_HUMAN helixturnhelix swissprot:RHAG_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:RHAG_HUMAN hmoment swissprot:RHAG_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:RHAG_HUMAN iep swissprot:RHAG_HUMAN http://rest.g-language.org/emboss/iep/swissprot:RHAG_HUMAN inforesidue swissprot:RHAG_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:RHAG_HUMAN neXtProt NX_Q02094 http://www.nextprot.org/db/entry/NX_Q02094 octanol swissprot:RHAG_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:RHAG_HUMAN pepcoil swissprot:RHAG_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:RHAG_HUMAN pepdigest swissprot:RHAG_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:RHAG_HUMAN pepinfo swissprot:RHAG_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:RHAG_HUMAN pepnet swissprot:RHAG_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:RHAG_HUMAN pepstats swissprot:RHAG_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:RHAG_HUMAN pepwheel swissprot:RHAG_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:RHAG_HUMAN pepwindow swissprot:RHAG_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:RHAG_HUMAN sigcleave swissprot:RHAG_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:RHAG_HUMAN ## Database ID URL or Descriptions # CAUTION Could be the product of a pseudogene. {ECO 0000305}. # Ensembl ENST00000374097 ENSP00000363210; ENSG00000204152 # Ensembl ENST00000374098 ENSP00000363211; ENSG00000204152 # ExpressionAtlas Q5SRD1 baseline and differential # FUNCTION TI23B_HUMAN May participate in the translocation of transit peptide- containing proteins across the mitochondrial inner membrane. the PAM complex (By similarity). {ECO 0000250}. # GO_component GO:0005744 mitochondrial inner membrane presequence translocase complex; IBA:GO_Central. # GO_component GO:0031305 integral component of mitochondrial inner membrane; IBA:GO_Central. # GO_function GO:0015266 protein channel activity; IBA:GO_Central. # GO_function GO:0015450 P-P-bond-hydrolysis-driven protein transmembrane transporter activity; IEA:InterPro. # GO_process GO:0030150 protein import into mitochondrial matrix; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0043234 protein complex # GOslim_function GO:0008565 protein transporter activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0055085 transmembrane transport # Genevisible Q5SRD1 HS # HGNC HGNC:23581 TIMM23B # InterPro IPR003397 Tim17/Tim22/Tim23/PMP24 # InterPro IPR005681 Tim23 # Organism TI23B_HUMAN Homo sapiens (Human) # Pfam PF02466 Tim17 # Proteomes UP000005640 Chromosome 10 # RecName TI23B_HUMAN Putative mitochondrial import inner membrane translocase subunit Tim23B # SIMILARITY Belongs to the Tim17/Tim22/Tim23 family. {ECO 0000305}. # SUBCELLULAR LOCATION TI23B_HUMAN Mitochondrion inner membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. # TIGRFAMs TIGR00983 3a0801s02tim23 # UCSC uc031wgt human # eggNOG COG5596 LUCA # eggNOG KOG3324 Eukaryota BLAST swissprot:TI23B_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:TI23B_HUMAN BioCyc ZFISH:G66-33614-MONOMER http://biocyc.org/getid?id=ZFISH:G66-33614-MONOMER CleanEx HS_TIMM23B http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_TIMM23B DOI 10.1038/nature02462 http://dx.doi.org/10.1038/nature02462 EMBL AL672187 http://www.ebi.ac.uk/ena/data/view/AL672187 EMBL AL672187 http://www.ebi.ac.uk/ena/data/view/AL672187 Ensembl ENST00000374097 http://www.ensembl.org/id/ENST00000374097 Ensembl ENST00000374098 http://www.ensembl.org/id/ENST00000374098 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005744 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005744 GO_component GO:0031305 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031305 GO_function GO:0015266 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015266 GO_function GO:0015450 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015450 GO_process GO:0030150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030150 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards TIMM23B http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=TIMM23B HGNC HGNC:23581 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:23581 HOGENOM HOG000208442 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000208442&db=HOGENOM6 HOVERGEN HBG057526 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG057526&db=HOVERGEN InParanoid Q5SRD1 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q5SRD1 IntAct Q5SRD1 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q5SRD1* InterPro IPR003397 http://www.ebi.ac.uk/interpro/entry/IPR003397 InterPro IPR005681 http://www.ebi.ac.uk/interpro/entry/IPR005681 OrthoDB EOG091G0NP6 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0NP6 PSORT swissprot:TI23B_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:TI23B_HUMAN PSORT-B swissprot:TI23B_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:TI23B_HUMAN PSORT2 swissprot:TI23B_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:TI23B_HUMAN Pfam PF02466 http://pfam.xfam.org/family/PF02466 Phobius swissprot:TI23B_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:TI23B_HUMAN PhylomeDB Q5SRD1 http://phylomedb.org/?seqid=Q5SRD1 ProteinModelPortal Q5SRD1 http://www.proteinmodelportal.org/query/uniprot/Q5SRD1 PubMed 15164054 http://www.ncbi.nlm.nih.gov/pubmed/15164054 STRING 9606.ENSP00000363211 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000363211&targetmode=cogs TIGRFAMs TIGR00983 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00983 UCSC uc031wgt http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc031wgt&org=rat UniGene Hs.499594 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.499594 UniGene Hs.524308 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.524308 UniProtKB TI23B_HUMAN http://www.uniprot.org/uniprot/TI23B_HUMAN UniProtKB-AC Q5SRD1 http://www.uniprot.org/uniprot/Q5SRD1 charge swissprot:TI23B_HUMAN http://rest.g-language.org/emboss/charge/swissprot:TI23B_HUMAN eggNOG COG5596 http://eggnogapi.embl.de/nog_data/html/tree/COG5596 eggNOG KOG3324 http://eggnogapi.embl.de/nog_data/html/tree/KOG3324 epestfind swissprot:TI23B_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:TI23B_HUMAN garnier swissprot:TI23B_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:TI23B_HUMAN helixturnhelix swissprot:TI23B_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:TI23B_HUMAN hmoment swissprot:TI23B_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:TI23B_HUMAN iep swissprot:TI23B_HUMAN http://rest.g-language.org/emboss/iep/swissprot:TI23B_HUMAN inforesidue swissprot:TI23B_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:TI23B_HUMAN neXtProt NX_Q5SRD1 http://www.nextprot.org/db/entry/NX_Q5SRD1 octanol swissprot:TI23B_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:TI23B_HUMAN pepcoil swissprot:TI23B_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:TI23B_HUMAN pepdigest swissprot:TI23B_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:TI23B_HUMAN pepinfo swissprot:TI23B_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:TI23B_HUMAN pepnet swissprot:TI23B_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:TI23B_HUMAN pepstats swissprot:TI23B_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:TI23B_HUMAN pepwheel swissprot:TI23B_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:TI23B_HUMAN pepwindow swissprot:TI23B_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:TI23B_HUMAN sigcleave swissprot:TI23B_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:TI23B_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS MPCP_HUMAN Event=Alternative splicing; Named isoforms=2; Name=A; IsoId=Q00325-1; Sequence=Displayed; Name=B; IsoId=Q00325-2; Sequence=VSP_003269; # AltName MPCP_HUMAN Phosphate transport protein # AltName MPCP_HUMAN Solute carrier family 25 member 3 # BioGrid 111269 132 # CCDS CCDS9065 -. [Q00325-2] # CCDS CCDS9066 -. [Q00325-1] # ChiTaRS SLC25A3 human # DISEASE MPCP_HUMAN Mitochondrial phosphate carrier deficiency (MPCD) [MIM 610773] Fatal disorder of oxidative phosphorylation. Patients have lactic acidosis, hypertrophic cardiomyopathy and muscular hypotonia and die within the first year of life. {ECO 0000269|PubMed 17273968}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000188376 ENSP00000188376; ENSG00000075415. [Q00325-2] # Ensembl ENST00000228318 ENSP00000228318; ENSG00000075415. [Q00325-1] # Ensembl ENST00000401722 ENSP00000383898; ENSG00000075415. [Q00325-2] # Ensembl ENST00000549338 ENSP00000447740; ENSG00000075415. [Q00325-2] # Ensembl ENST00000551917 ENSP00000447310; ENSG00000075415. [Q00325-1] # Ensembl ENST00000552981 ENSP00000448708; ENSG00000075415. [Q00325-2] # ExpressionAtlas Q00325 baseline and differential # FUNCTION MPCP_HUMAN Transport of phosphate groups from the cytosol to the mitochondrial matrix. Phosphate is cotransported with H(+). May play a role regulation of the mitochondrial permeability transition pore (mPTP). # GO_component GO:0005634 nucleus; IDA:HPA. # GO_component GO:0005730 nucleolus; IDA:HPA. # GO_component GO:0005739 mitochondrion; IDA:HPA. # GO_component GO:0005743 mitochondrial inner membrane; TAS:ProtInc. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0043209 myelin sheath; IEA:Ensembl. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0015293 symporter activity; IEA:UniProtKB-KW. # GO_function GO:0015320 phosphate ion carrier activity; TAS:ProtInc. # GO_function GO:0032403 protein complex binding; IDA:MGI. # GO_process GO:0006091 generation of precursor metabolites and energy; TAS:ProtInc. # GO_process GO:0006810 transport; TAS:ProtInc. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005730 nucleolus # GOslim_component GO:0005739 mitochondrion # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006091 generation of precursor metabolites and energy # GOslim_process GO:0006810 transport # Gene3D 1.50.40.10 -; 1. # Genevisible Q00325 HS # HGNC HGNC:10989 SLC25A3 # IntAct Q00325 41 # InterPro IPR018108 Mitochondrial_sb/sol_carrier # InterPro IPR023395 Mt_carrier_dom # KEGG_Brite ko02001 Solute carrier family # KEGG_Disease H01348 [Inherited metabolic disease; Mitochondrial disease] Mitochondrial phosphate carrier deficiency (MPCD) # MIM 600370 gene # MIM 610773 phenotype # Organism MPCP_HUMAN Homo sapiens (Human) # Orphanet 91130 Cardiomyopathy - hypotonia - lactic acidosis # PIR A53737 A53737 # PIR B53737 B53737 # PROSITE PS50920 SOLCAR; 3 # Pfam PF00153 Mito_carr; 3 # Proteomes UP000005640 Chromosome 12 # RecName MPCP_HUMAN Phosphate carrier protein, mitochondrial # RefSeq NP_002626 NM_002635.3. [Q00325-2] # RefSeq NP_005879 NM_005888.3. [Q00325-1] # RefSeq NP_998776 NM_213611.2. [Q00325-2] # SIMILARITY Belongs to the mitochondrial carrier (TC 2.A.29) family. {ECO 0000305}. # SIMILARITY Contains 3 Solcar repeats. {ECO:0000255|PROSITE- ProRule PRU00282}. # SUBCELLULAR LOCATION MPCP_HUMAN Mitochondrion inner membrane; Multi-pass membrane protein. # SUBUNIT Interacts with PPIF; the interaction is impaired by CsA. {ECO 0000250}. # SUPFAM SSF103506 SSF103506 # TCDB 2.A.29.4 the mitochondrial carrier (mc) family # TopDownProteomics Q00325-1 -. [Q00325-1] # TopDownProteomics Q00325-2 -. [Q00325-2] # UCSC uc001tfm human. [Q00325-1] # eggNOG ENOG410XPST LUCA # eggNOG KOG0767 Eukaryota BLAST swissprot:MPCP_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:MPCP_HUMAN BioCyc ZFISH:ENSG00000075415-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000075415-MONOMER COXPRESdb 5250 http://coxpresdb.jp/data/gene/5250.shtml CleanEx HS_SLC25A3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC25A3 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/mcp.M800588-MCP200 http://dx.doi.org/10.1074/mcp.M800588-MCP200 DOI 10.1074/mcp.O113.027870 http://dx.doi.org/10.1074/mcp.O113.027870 DOI 10.1086/511788 http://dx.doi.org/10.1086/511788 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1175371 http://dx.doi.org/10.1126/science.1175371 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AB064666 http://www.ebi.ac.uk/ena/data/view/AB064666 EMBL AK092689 http://www.ebi.ac.uk/ena/data/view/AK092689 EMBL BC000998 http://www.ebi.ac.uk/ena/data/view/BC000998 EMBL BC001328 http://www.ebi.ac.uk/ena/data/view/BC001328 EMBL BC003504 http://www.ebi.ac.uk/ena/data/view/BC003504 EMBL BC004345 http://www.ebi.ac.uk/ena/data/view/BC004345 EMBL BC006455 http://www.ebi.ac.uk/ena/data/view/BC006455 EMBL BC011574 http://www.ebi.ac.uk/ena/data/view/BC011574 EMBL BC011641 http://www.ebi.ac.uk/ena/data/view/BC011641 EMBL BC014019 http://www.ebi.ac.uk/ena/data/view/BC014019 EMBL BC015379 http://www.ebi.ac.uk/ena/data/view/BC015379 EMBL BC051367 http://www.ebi.ac.uk/ena/data/view/BC051367 EMBL CH471054 http://www.ebi.ac.uk/ena/data/view/CH471054 EMBL CH471054 http://www.ebi.ac.uk/ena/data/view/CH471054 EMBL X60036 http://www.ebi.ac.uk/ena/data/view/X60036 EMBL X77337 http://www.ebi.ac.uk/ena/data/view/X77337 EMBL X77337 http://www.ebi.ac.uk/ena/data/view/X77337 Ensembl ENST00000188376 http://www.ensembl.org/id/ENST00000188376 Ensembl ENST00000228318 http://www.ensembl.org/id/ENST00000228318 Ensembl ENST00000401722 http://www.ensembl.org/id/ENST00000401722 Ensembl ENST00000549338 http://www.ensembl.org/id/ENST00000549338 Ensembl ENST00000551917 http://www.ensembl.org/id/ENST00000551917 Ensembl ENST00000552981 http://www.ensembl.org/id/ENST00000552981 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005730 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005730 GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0043209 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043209 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0015293 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015293 GO_function GO:0015320 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015320 GO_function GO:0032403 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032403 GO_process GO:0006091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006091 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_component GO:0005730 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005730 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006091 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 Gene3D 1.50.40.10 http://www.cathdb.info/version/latest/superfamily/1.50.40.10 GeneCards SLC25A3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC25A3 GeneID 5250 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=5250 GeneTree ENSGT00390000008708 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000008708 HGNC HGNC:10989 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10989 HOGENOM HOG000164438 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000164438&db=HOGENOM6 HOVERGEN HBG024440 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG024440&db=HOVERGEN HPA HPA045709 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA045709 InParanoid Q00325 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q00325 IntAct Q00325 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q00325* InterPro IPR018108 http://www.ebi.ac.uk/interpro/entry/IPR018108 InterPro IPR023395 http://www.ebi.ac.uk/interpro/entry/IPR023395 Jabion 5250 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=5250 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Disease H01348 http://www.genome.jp/dbget-bin/www_bget?H01348 KEGG_Gene hsa:5250 http://www.genome.jp/dbget-bin/www_bget?hsa:5250 KEGG_Orthology KO:K15102 http://www.genome.jp/dbget-bin/www_bget?KO:K15102 MIM 600370 http://www.ncbi.nlm.nih.gov/omim/600370 MIM 610773 http://www.ncbi.nlm.nih.gov/omim/610773 MINT MINT-1156379 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1156379 OMA LKFYALC http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=LKFYALC Orphanet 91130 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=91130 OrthoDB EOG091G0FJF http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0FJF PROSITE PS50920 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50920 PSORT swissprot:MPCP_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:MPCP_HUMAN PSORT-B swissprot:MPCP_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:MPCP_HUMAN PSORT2 swissprot:MPCP_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:MPCP_HUMAN Pfam PF00153 http://pfam.xfam.org/family/PF00153 PharmGKB PA35865 http://www.pharmgkb.org/do/serve?objId=PA35865&objCls=Gene Phobius swissprot:MPCP_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:MPCP_HUMAN PhylomeDB Q00325 http://phylomedb.org/?seqid=Q00325 ProteinModelPortal Q00325 http://www.proteinmodelportal.org/query/uniprot/Q00325 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 17273968 http://www.ncbi.nlm.nih.gov/pubmed/17273968 PubMed 1777677 http://www.ncbi.nlm.nih.gov/pubmed/1777677 PubMed 19369195 http://www.ncbi.nlm.nih.gov/pubmed/19369195 PubMed 19608861 http://www.ncbi.nlm.nih.gov/pubmed/19608861 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 24129315 http://www.ncbi.nlm.nih.gov/pubmed/24129315 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 8144629 http://www.ncbi.nlm.nih.gov/pubmed/8144629 RefSeq NP_002626 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_002626 RefSeq NP_005879 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_005879 RefSeq NP_998776 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_998776 STRING 9606.ENSP00000228318 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000228318&targetmode=cogs SUPFAM SSF103506 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103506 TCDB 2.A.29.4 http://www.tcdb.org/search/result.php?tc=2.A.29.4 UCSC uc001tfm http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001tfm&org=rat UniGene Hs.290404 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.290404 UniProtKB MPCP_HUMAN http://www.uniprot.org/uniprot/MPCP_HUMAN UniProtKB-AC Q00325 http://www.uniprot.org/uniprot/Q00325 charge swissprot:MPCP_HUMAN http://rest.g-language.org/emboss/charge/swissprot:MPCP_HUMAN eggNOG ENOG410XPST http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XPST eggNOG KOG0767 http://eggnogapi.embl.de/nog_data/html/tree/KOG0767 epestfind swissprot:MPCP_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:MPCP_HUMAN garnier swissprot:MPCP_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:MPCP_HUMAN helixturnhelix swissprot:MPCP_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:MPCP_HUMAN hmoment swissprot:MPCP_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:MPCP_HUMAN iep swissprot:MPCP_HUMAN http://rest.g-language.org/emboss/iep/swissprot:MPCP_HUMAN inforesidue swissprot:MPCP_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:MPCP_HUMAN neXtProt NX_Q00325 http://www.nextprot.org/db/entry/NX_Q00325 octanol swissprot:MPCP_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:MPCP_HUMAN pepcoil swissprot:MPCP_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:MPCP_HUMAN pepdigest swissprot:MPCP_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:MPCP_HUMAN pepinfo swissprot:MPCP_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:MPCP_HUMAN pepnet swissprot:MPCP_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:MPCP_HUMAN pepstats swissprot:MPCP_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:MPCP_HUMAN pepwheel swissprot:MPCP_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:MPCP_HUMAN pepwindow swissprot:MPCP_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:MPCP_HUMAN sigcleave swissprot:MPCP_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:MPCP_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS CLCA4_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q14CN2-1; Sequence=Displayed; Name=2; IsoId=Q14CN2-2; Sequence=VSP_056117, VSP_056118, VSP_056119; Note=No experimental confirmation available.; # AltName CLCA4_HUMAN Calcium-activated chloride channel family member 4 # AltName CLCA4_HUMAN Calcium-activated chloride channel protein 2 # AltName CLCA4_HUMAN Chloride channel accessory 4 # AltName CLCA4_HUMAN Chloride channel accessory 4 # CCDS CCDS41355 -. [Q14CN2-1] # DOMAIN CLCA4_HUMAN The metalloprotease region is responsible for autoproteolytic processing. It can also cross-cleave other CLCA Substrates. {ECO 0000250|UniProtKB A8K7I4}. # Ensembl ENST00000370563 ENSP00000359594; ENSG00000016602. [Q14CN2-1] # FUNCTION CLCA4_HUMAN May be involved in mediating calcium-activated chloride conductance. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0016324 apical plasma membrane; IEA:UniProtKB-SubCell. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0004222 metalloendopeptidase activity; TAS:Reactome. # GO_function GO:0005229 intracellular calcium activated chloride channel activity; IEA:InterPro. # GO_function GO:0005254 chloride channel activity; TAS:ProtInc. # GO_function GO:0046872 metal ion binding; IEA:UniProtKB-KW. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0008233 peptidase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0055085 transmembrane transport # Gene3D 3.40.50.410 -; 1. # Genevisible Q14CN2 HS # HGNC HGNC:2018 CLCA4 # INDUCTION Down-regulated in oral tongue squamous cell carcinomas. {ECO:0000269|PubMed 18254958}. # InterPro IPR002035 VWF_A # InterPro IPR004727 CLCA_chordata # InterPro IPR013642 CLCA # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04740 Olfactory transduction # KEGG_Pathway ko04972 Pancreatic secretion # MIM 616857 gene # Organism CLCA4_HUMAN Homo sapiens (Human) # Orphanet 586 Cystic fibrosis # PROSITE PS50234 VWFA # PTM CLCA4_HUMAN The translation product is autoproteolytically cleaved by the metalloprotease domain in the endoplasmic reticulum into a N- terminal and a C-terminal products that remain physically associated with each other. The cleavage is necessary for calcium- activated chloride channel (CaCC) activation activity. {ECO 0000250|UniProtKB A8K7I4}. # Pfam PF00092 VWA # Pfam PF08434 CLCA # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-2672351 Stimuli-sensing channels # RecName CLCA4_HUMAN Calcium-activated chloride channel regulator 4 # RecName CLCA4_HUMAN Calcium-activated chloride channel regulator 4, 110 kDa form # RecName CLCA4_HUMAN Calcium-activated chloride channel regulator 4, 110 kDa form # RecName CLCA4_HUMAN Calcium-activated chloride channel regulator 4, 30 kDa form # RefSeq NP_036260 NM_012128.3. [Q14CN2-1] # SIMILARITY Belongs to the CLCR family. {ECO 0000305}. # SIMILARITY Contains 1 VWFA domain. {ECO:0000255|PROSITE- ProRule PRU00219}. # SMART SM00327 VWA # SUBCELLULAR LOCATION CLCA4_HUMAN Cell membrane {ECO 0000250}; Single-pass membrane protein {ECO 0000250}. Apical cell membrane {ECO 0000250}. Secreted {ECO 0000250}. Note=The C-terminus 30 kDa form is anchored to the membrane. The N-terminus 110 kDa form is released from the membrane triggered by an unknown stimulus. {ECO 0000250}. # SUPFAM SSF53300 SSF53300 # TCDB 1.A.13.1 the epithelial chloride channel (e-clc) family # TIGRFAMs TIGR00868 hCaCC # TISSUE SPECIFICITY CLCA4_HUMAN Primarily expressed in the digestive tract, mainly in colon. Detected in smaller amounts in brain, urogenital organs, testis, and salivary and mammary glands. Highly expressed in the epithelial layer and submucosal gland of the inferior turbinate mucosa. Lower levels in the epithelial layer of nasal polyp. {ECO 0000269|PubMed 10437792, ECO 0000269|PubMed 15490240, ECO 0000269|PubMed 16012037}. # UCSC uc009wcs human. [Q14CN2-1] # eggNOG ENOG410IEPS Eukaryota # eggNOG ENOG410XPSZ LUCA BLAST swissprot:CLCA4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CLCA4_HUMAN COXPRESdb 22802 http://coxpresdb.jp/data/gene/22802.shtml CleanEx HS_CLCA4 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CLCA4 DOI 10.1007/s00439-004-1190-y http://dx.doi.org/10.1007/s00439-004-1190-y DOI 10.1016/S0014-5793(99)00891-1 http://dx.doi.org/10.1016/S0014-5793(99)00891-1 DOI 10.1021/pr050492k http://dx.doi.org/10.1021/pr050492k DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1080/00016480510028519 http://dx.doi.org/10.1080/00016480510028519 DOI 10.1101/gr.1293003 http://dx.doi.org/10.1101/gr.1293003 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1471-2164-9-69 http://dx.doi.org/10.1186/1471-2164-9-69 EC_number EC:3.4.-.- {ECO:0000250|UniProtKB:A8K7I4} http://www.genome.jp/dbget-bin/www_bget?EC:3.4.-.- {ECO:0000250|UniProtKB:A8K7I4} EMBL AF127035 http://www.ebi.ac.uk/ena/data/view/AF127035 EMBL AK293766 http://www.ebi.ac.uk/ena/data/view/AK293766 EMBL AL122002 http://www.ebi.ac.uk/ena/data/view/AL122002 EMBL AY358470 http://www.ebi.ac.uk/ena/data/view/AY358470 EMBL BC113687 http://www.ebi.ac.uk/ena/data/view/BC113687 EMBL BC113689 http://www.ebi.ac.uk/ena/data/view/BC113689 ENZYME 3.4.-.- {ECO:0000250|UniProtKB:A8K7I4} http://enzyme.expasy.org/EC/3.4.-.- {ECO:0000250|UniProtKB:A8K7I4} Ensembl ENST00000370563 http://www.ensembl.org/id/ENST00000370563 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0004222 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004222 GO_function GO:0005229 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005229 GO_function GO:0005254 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005254 GO_function GO:0046872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046872 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0008233 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008233 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 3.40.50.410 http://www.cathdb.info/version/latest/superfamily/3.40.50.410 GeneCards CLCA4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CLCA4 GeneID 22802 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=22802 GeneTree ENSGT00390000004810 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000004810 H-InvDB HIX0000752 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0000752 HGNC HGNC:2018 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:2018 HOGENOM HOG000015107 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000015107&db=HOGENOM6 HOVERGEN HBG005560 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG005560&db=HOVERGEN HPA HPA017045 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA017045 InParanoid Q14CN2 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q14CN2 IntEnz 3.4.-.- {ECO:0000250|UniProtKB:A8K7I4} http://www.ebi.ac.uk/intenz/query?cmd=Search&q=3.4.-.- {ECO:0000250|UniProtKB:A8K7I4} InterPro IPR002035 http://www.ebi.ac.uk/interpro/entry/IPR002035 InterPro IPR004727 http://www.ebi.ac.uk/interpro/entry/IPR004727 InterPro IPR013642 http://www.ebi.ac.uk/interpro/entry/IPR013642 Jabion 22802 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=22802 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:22802 http://www.genome.jp/dbget-bin/www_bget?hsa:22802 KEGG_Orthology KO:K05030 http://www.genome.jp/dbget-bin/www_bget?KO:K05030 KEGG_Pathway ko04740 http://www.genome.jp/kegg-bin/show_pathway?ko04740 KEGG_Pathway ko04972 http://www.genome.jp/kegg-bin/show_pathway?ko04972 MIM 616857 http://www.ncbi.nlm.nih.gov/omim/616857 OMA TIMENFT http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=TIMENFT Orphanet 586 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=586 OrthoDB EOG091G09E6 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G09E6 PROSITE PS50234 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50234 PSORT swissprot:CLCA4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CLCA4_HUMAN PSORT-B swissprot:CLCA4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CLCA4_HUMAN PSORT2 swissprot:CLCA4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CLCA4_HUMAN Pfam PF00092 http://pfam.xfam.org/family/PF00092 Pfam PF08434 http://pfam.xfam.org/family/PF08434 PharmGKB PA26545 http://www.pharmgkb.org/do/serve?objId=PA26545&objCls=Gene Phobius swissprot:CLCA4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CLCA4_HUMAN PhylomeDB Q14CN2 http://phylomedb.org/?seqid=Q14CN2 ProteinModelPortal Q14CN2 http://www.proteinmodelportal.org/query/uniprot/Q14CN2 PubMed 10437792 http://www.ncbi.nlm.nih.gov/pubmed/10437792 PubMed 12975309 http://www.ncbi.nlm.nih.gov/pubmed/12975309 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15490240 http://www.ncbi.nlm.nih.gov/pubmed/15490240 PubMed 16012037 http://www.ncbi.nlm.nih.gov/pubmed/16012037 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 16740002 http://www.ncbi.nlm.nih.gov/pubmed/16740002 PubMed 18254958 http://www.ncbi.nlm.nih.gov/pubmed/18254958 Reactome R-HSA-2672351 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2672351 RefSeq NP_036260 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_036260 SMART SM00327 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00327 STRING 9606.ENSP00000359594 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000359594&targetmode=cogs SUPFAM SSF53300 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF53300 TCDB 1.A.13.1 http://www.tcdb.org/search/result.php?tc=1.A.13.1 TIGRFAMs TIGR00868 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00868 UCSC uc009wcs http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc009wcs&org=rat UniGene Hs.567422 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.567422 UniProtKB CLCA4_HUMAN http://www.uniprot.org/uniprot/CLCA4_HUMAN UniProtKB-AC Q14CN2 http://www.uniprot.org/uniprot/Q14CN2 charge swissprot:CLCA4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CLCA4_HUMAN eggNOG ENOG410IEPS http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IEPS eggNOG ENOG410XPSZ http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XPSZ epestfind swissprot:CLCA4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CLCA4_HUMAN garnier swissprot:CLCA4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CLCA4_HUMAN helixturnhelix swissprot:CLCA4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CLCA4_HUMAN hmoment swissprot:CLCA4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CLCA4_HUMAN iep swissprot:CLCA4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CLCA4_HUMAN inforesidue swissprot:CLCA4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CLCA4_HUMAN neXtProt NX_Q14CN2 http://www.nextprot.org/db/entry/NX_Q14CN2 octanol swissprot:CLCA4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CLCA4_HUMAN pepcoil swissprot:CLCA4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CLCA4_HUMAN pepdigest swissprot:CLCA4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CLCA4_HUMAN pepinfo swissprot:CLCA4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CLCA4_HUMAN pepnet swissprot:CLCA4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CLCA4_HUMAN pepstats swissprot:CLCA4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CLCA4_HUMAN pepwheel swissprot:CLCA4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CLCA4_HUMAN pepwindow swissprot:CLCA4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CLCA4_HUMAN sigcleave swissprot:CLCA4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CLCA4_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS ZNT8_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8IWU4-1; Sequence=Displayed; Name=2; IsoId=Q8IWU4-2; Sequence=VSP_024025; # AltName ZNT8_HUMAN Solute carrier family 30 member 8 # CCDS CCDS55272 -. [Q8IWU4-2] # CCDS CCDS6322 -. [Q8IWU4-1] # DOMAIN ZNT8_HUMAN Contains a histidine-rich region, HXXXXXHNH-motif, which is a ligand for zinc. {ECO 0000250}. # Ensembl ENST00000427715 ENSP00000407505; ENSG00000164756. [Q8IWU4-2] # Ensembl ENST00000456015 ENSP00000415011; ENSG00000164756. [Q8IWU4-1] # Ensembl ENST00000519688 ENSP00000431069; ENSG00000164756. [Q8IWU4-2] # Ensembl ENST00000521243 ENSP00000428545; ENSG00000164756. [Q8IWU4-2] # ExpressionAtlas Q8IWU4 baseline and differential # FUNCTION ZNT8_HUMAN Facilitates the accumulation of zinc from the cytoplasm into intracellular vesicles, being a zinc-efflux transporter. May be a major component for providing zinc to insulin maturation and/or storage processes in insulin-secreting pancreatic beta- cells. {ECO 0000269|PubMed 16984975}. # GO_component GO:0005886 plasma membrane; IDA:BHF-UCL. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0016023 cytoplasmic, membrane-bounded vesicle; ISS:BHF-UCL. # GO_component GO:0030141 secretory granule; IDA:BHF-UCL. # GO_component GO:0030658 transport vesicle membrane; IEA:UniProtKB-SubCell. # GO_component GO:0030667 secretory granule membrane; TAS:Reactome. # GO_function GO:0005385 zinc ion transmembrane transporter activity; IDA:BHF-UCL. # GO_function GO:0008270 zinc ion binding; IC:BHF-UCL. # GO_function GO:0042803 protein homodimerization activity; ISS:BHF-UCL. # GO_process GO:0006829 zinc II ion transport; IDA:BHF-UCL. # GO_process GO:0006882 cellular zinc ion homeostasis; ISS:BHF-UCL. # GO_process GO:0009749 response to glucose; IMP:BHF-UCL. # GO_process GO:0010043 response to zinc ion; IBA:GO_Central. # GO_process GO:0030073 insulin secretion; IMP:BHF-UCL. # GO_process GO:0032024 positive regulation of insulin secretion; ISS:BHF-UCL. # GO_process GO:0032119 sequestering of zinc ion; IDA:BHF-UCL. # GO_process GO:0034341 response to interferon-gamma; IEA:Ensembl. # GO_process GO:0060627 regulation of vesicle-mediated transport; ISS:BHF-UCL. # GO_process GO:0061088 regulation of sequestering of zinc ion; ISS:BHF-UCL. # GO_process GO:0070555 response to interleukin-1; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0031410 cytoplasmic vesicle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # Gene3D 1.20.1510.10 -; 1. # Genevisible Q8IWU4 HS # HGNC HGNC:20303 SLC30A8 # INTERACTION ZNT8_HUMAN Q96BA8 CREB3L1; NbExp=3; IntAct=EBI-10262251, EBI-6942903; # IntAct Q8IWU4 4 # InterPro IPR002524 Cation_efflux # InterPro IPR027469 Cation_efflux_TMD # InterPro IPR033572 ZnT-8 # KEGG_Brite ko02001 Solute carrier family # KEGG_Disease H00409 [Metabolic disease; Endocrine disease] Type II diabetes mellitus # MIM 125853 phenotype # MIM 611145 gene # Organism ZNT8_HUMAN Homo sapiens (Human) # PANTHER PTHR11562 PTHR11562 # PANTHER PTHR11562:SF37 PTHR11562:SF37 # POLYMORPHISM Variant Trp-325 is a risk factor that confers susceptibility to diabetes mellitus, noninsulin-dependent (NIDDM) [MIM 125853]. # Pfam PF01545 Cation_efflux # Proteomes UP000005640 Chromosome 8 # Reactome R-HSA-264876 Insulin processing # Reactome R-HSA-435368 Zinc efflux and compartmentalization by the SLC30 family # RecName ZNT8_HUMAN Zinc transporter 8 # RefSeq NP_001166282 NM_001172811.1. [Q8IWU4-2] # RefSeq NP_001166284 NM_001172813.1. [Q8IWU4-2] # RefSeq NP_001166285 NM_001172814.1. [Q8IWU4-2] # RefSeq NP_001166286 NM_001172815.2. [Q8IWU4-2] # RefSeq NP_776250 NM_173851.2. [Q8IWU4-1] # SIMILARITY Belongs to the cation diffusion facilitator (CDF) transporter (TC 2.A.4) family. SLC30A subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION ZNT8_HUMAN Cell membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. Cytoplasmic vesicle, secretory vesicle membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. Note=Associated with insulin and glucagon secretory granules. {ECO 0000250}. # SUBUNIT Homodimer. {ECO 0000250}. # TCDB 2.A.4.3 the cation diffusion facilitator (cdf) family # TIGRFAMs TIGR01297 CDF # TISSUE SPECIFICITY ZNT8_HUMAN In the endocrine pancreas, expressed in insulin-producing beta cells. Expressed at relatively high levels in subcutaneous fat tissue from lean persons; much lower levels in visceral fat, whether from lean or obese individuals, and in subcutaneous fat tissue from obese individuals. Expressed in peripheral blood mononuclear cells, including T-cells and B-cells, with great variation among individuals ranging from negative to strongly positive. {ECO 0000269|PubMed 15331542, ECO 0000269|PubMed 16158222, ECO 0000269|PubMed 16984975, ECO 0000269|PubMed 17118530, ECO 0000269|PubMed 17971500}. # UCSC uc003yog human. [Q8IWU4-1] # eggNOG COG1230 LUCA # eggNOG KOG1482 Eukaryota BLAST swissprot:ZNT8_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ZNT8_HUMAN COXPRESdb 169026 http://coxpresdb.jp/data/gene/169026.shtml CleanEx HS_SLC30A8 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC30A8 DOI 10.1007/s10534-005-3687-9 http://dx.doi.org/10.1007/s10534-005-3687-9 DOI 10.1016/j.mce.2006.10.010 http://dx.doi.org/10.1016/j.mce.2006.10.010 DOI 10.1038/nature04406 http://dx.doi.org/10.1038/nature04406 DOI 10.1038/nature05616 http://dx.doi.org/10.1038/nature05616 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 DOI 10.1189/jlb.0307148 http://dx.doi.org/10.1189/jlb.0307148 DOI 10.1242/jcs.03164 http://dx.doi.org/10.1242/jcs.03164 DOI 10.2337/diabetes.53.9.2330 http://dx.doi.org/10.2337/diabetes.53.9.2330 EMBL AC027419 http://www.ebi.ac.uk/ena/data/view/AC027419 EMBL AC084114 http://www.ebi.ac.uk/ena/data/view/AC084114 EMBL AK298294 http://www.ebi.ac.uk/ena/data/view/AK298294 EMBL AL713790 http://www.ebi.ac.uk/ena/data/view/AL713790 EMBL AY117411 http://www.ebi.ac.uk/ena/data/view/AY117411 EMBL BC126446 http://www.ebi.ac.uk/ena/data/view/BC126446 EMBL CH471060 http://www.ebi.ac.uk/ena/data/view/CH471060 EMBL EF560713 http://www.ebi.ac.uk/ena/data/view/EF560713 Ensembl ENST00000427715 http://www.ensembl.org/id/ENST00000427715 Ensembl ENST00000456015 http://www.ensembl.org/id/ENST00000456015 Ensembl ENST00000519688 http://www.ensembl.org/id/ENST00000519688 Ensembl ENST00000521243 http://www.ensembl.org/id/ENST00000521243 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0016023 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016023 GO_component GO:0030141 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030141 GO_component GO:0030658 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030658 GO_component GO:0030667 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030667 GO_function GO:0005385 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005385 GO_function GO:0008270 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008270 GO_function GO:0042803 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042803 GO_process GO:0006829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006829 GO_process GO:0006882 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006882 GO_process GO:0009749 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009749 GO_process GO:0010043 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010043 GO_process GO:0030073 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030073 GO_process GO:0032024 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032024 GO_process GO:0032119 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032119 GO_process GO:0034341 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034341 GO_process GO:0060627 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060627 GO_process GO:0061088 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061088 GO_process GO:0070555 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070555 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0031410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 Gene3D 1.20.1510.10 http://www.cathdb.info/version/latest/superfamily/1.20.1510.10 GeneCards SLC30A8 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC30A8 GeneID 169026 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=169026 GeneTree ENSGT00550000074381 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074381 HGNC HGNC:20303 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:20303 HOGENOM HOG000079023 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000079023&db=HOGENOM6 HOVERGEN HBG003345 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG003345&db=HOVERGEN InParanoid Q8IWU4 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8IWU4 IntAct Q8IWU4 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q8IWU4* InterPro IPR002524 http://www.ebi.ac.uk/interpro/entry/IPR002524 InterPro IPR027469 http://www.ebi.ac.uk/interpro/entry/IPR027469 InterPro IPR033572 http://www.ebi.ac.uk/interpro/entry/IPR033572 Jabion 169026 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=169026 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Disease H00409 http://www.genome.jp/dbget-bin/www_bget?H00409 KEGG_Gene hsa:169026 http://www.genome.jp/dbget-bin/www_bget?hsa:169026 KEGG_Orthology KO:K14695 http://www.genome.jp/dbget-bin/www_bget?KO:K14695 MIM 125853 http://www.ncbi.nlm.nih.gov/omim/125853 MIM 611145 http://www.ncbi.nlm.nih.gov/omim/611145 MINT MINT-4722284 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-4722284 OMA QMESPVD http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=QMESPVD OrthoDB EOG091G07UN http://cegg.unige.ch/orthodb/results?searchtext=EOG091G07UN PANTHER PTHR11562 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11562 PANTHER PTHR11562:SF37 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11562:SF37 PSORT swissprot:ZNT8_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ZNT8_HUMAN PSORT-B swissprot:ZNT8_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ZNT8_HUMAN PSORT2 swissprot:ZNT8_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ZNT8_HUMAN Pfam PF01545 http://pfam.xfam.org/family/PF01545 PharmGKB PA134915546 http://www.pharmgkb.org/do/serve?objId=PA134915546&objCls=Gene Phobius swissprot:ZNT8_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ZNT8_HUMAN PhylomeDB Q8IWU4 http://phylomedb.org/?seqid=Q8IWU4 ProteinModelPortal Q8IWU4 http://www.proteinmodelportal.org/query/uniprot/Q8IWU4 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15331542 http://www.ncbi.nlm.nih.gov/pubmed/15331542 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16158222 http://www.ncbi.nlm.nih.gov/pubmed/16158222 PubMed 16421571 http://www.ncbi.nlm.nih.gov/pubmed/16421571 PubMed 16984975 http://www.ncbi.nlm.nih.gov/pubmed/16984975 PubMed 17118530 http://www.ncbi.nlm.nih.gov/pubmed/17118530 PubMed 17293876 http://www.ncbi.nlm.nih.gov/pubmed/17293876 PubMed 17971500 http://www.ncbi.nlm.nih.gov/pubmed/17971500 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 Reactome R-HSA-264876 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-264876 Reactome R-HSA-435368 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-435368 RefSeq NP_001166282 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001166282 RefSeq NP_001166284 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001166284 RefSeq NP_001166285 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001166285 RefSeq NP_001166286 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001166286 RefSeq NP_776250 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_776250 STRING 9606.ENSP00000415011 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000415011&targetmode=cogs TCDB 2.A.4.3 http://www.tcdb.org/search/result.php?tc=2.A.4.3 TIGRFAMs TIGR01297 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01297 UCSC uc003yog http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003yog&org=rat UniGene Hs.532270 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.532270 UniProtKB ZNT8_HUMAN http://www.uniprot.org/uniprot/ZNT8_HUMAN UniProtKB-AC Q8IWU4 http://www.uniprot.org/uniprot/Q8IWU4 charge swissprot:ZNT8_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ZNT8_HUMAN eggNOG COG1230 http://eggnogapi.embl.de/nog_data/html/tree/COG1230 eggNOG KOG1482 http://eggnogapi.embl.de/nog_data/html/tree/KOG1482 epestfind swissprot:ZNT8_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ZNT8_HUMAN garnier swissprot:ZNT8_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ZNT8_HUMAN helixturnhelix swissprot:ZNT8_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ZNT8_HUMAN hmoment swissprot:ZNT8_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ZNT8_HUMAN iep swissprot:ZNT8_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ZNT8_HUMAN inforesidue swissprot:ZNT8_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ZNT8_HUMAN neXtProt NX_Q8IWU4 http://www.nextprot.org/db/entry/NX_Q8IWU4 octanol swissprot:ZNT8_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ZNT8_HUMAN pepcoil swissprot:ZNT8_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ZNT8_HUMAN pepdigest swissprot:ZNT8_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ZNT8_HUMAN pepinfo swissprot:ZNT8_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ZNT8_HUMAN pepnet swissprot:ZNT8_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ZNT8_HUMAN pepstats swissprot:ZNT8_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ZNT8_HUMAN pepwheel swissprot:ZNT8_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ZNT8_HUMAN pepwindow swissprot:ZNT8_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ZNT8_HUMAN sigcleave swissprot:ZNT8_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ZNT8_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS TM40L_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q969M1-1; Sequence=Displayed; Name=2; IsoId=Q969M1-2; Sequence=VSP_054885; Note=No experimental confirmation available.; # AltName TM40L_HUMAN Protein TOMM40-like # BioGrid 123906 6 # CCDS CCDS1227 -. [Q969M1-1] # CCDS CCDS65700 -. [Q969M1-2] # ChiTaRS TOMM40L human # Ensembl ENST00000367987 ENSP00000356966; ENSG00000158882. [Q969M1-1] # Ensembl ENST00000367988 ENSP00000356967; ENSG00000158882. [Q969M1-1] # Ensembl ENST00000545897 ENSP00000443233; ENSG00000158882. [Q969M1-2] # FUNCTION TM40L_HUMAN Potential channel-forming protein implicated in import of protein precursors into mitochondria. {ECO 0000250}. # GO_component GO:0005742 mitochondrial outer membrane translocase complex; IBA:GO_Central. # GO_component GO:0043234 protein complex; IDA:LIFEdb. # GO_component GO:0046930 pore complex; IEA:UniProtKB-KW. # GO_function GO:0015266 protein channel activity; IBA:GO_Central. # GO_function GO:0015288 porin activity; IEA:UniProtKB-KW. # GO_process GO:0006811 ion transport; IEA:UniProtKB-KW. # GO_process GO:0030150 protein import into mitochondrial matrix; IBA:GO_Central. # GOslim_component GO:0043234 protein complex # GOslim_function GO:0008565 protein transporter activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0055085 transmembrane transport # Gene3D 2.40.160.10 -; 1. # Genevisible Q969M1 HS # HGNC HGNC:25756 TOMM40L # InterPro IPR023614 Porin_dom # InterPro IPR027246 Porin_Euk/Tom40 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Pathway ko05014 Amyotrophic lateral sclerosis (ALS) # Organism TM40L_HUMAN Homo sapiens (Human) # Pfam PF01459 Porin_3 # Proteomes UP000005640 Chromosome 1 # RecName TM40L_HUMAN Mitochondrial import receptor subunit TOM40B # RefSeq NP_001273302 NM_001286373.1. [Q969M1-2] # RefSeq NP_115550 NM_032174.5. [Q969M1-1] # RefSeq XP_006711635 XM_006711572.2. [Q969M1-1] # RefSeq XP_016857970 XM_017002481.1. [Q969M1-1] # RefSeq XP_016857971 XM_017002482.1. [Q969M1-2] # SIMILARITY Belongs to the Tom40 family. {ECO 0000305}. # SUBCELLULAR LOCATION TM40L_HUMAN Mitochondrion outer membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. # SUBUNIT Forms part of the preprotein translocase of the outer mitochondrial membrane (TOM complex) containing TOMM22, TOMM40, TOMM40L and TOMM70. Interacts with mitochondrial targeting sequences (By similarity). {ECO 0000250}. # UCSC uc001fzd human. [Q969M1-1] # eggNOG ENOG410XS2U LUCA # eggNOG KOG3296 Eukaryota BLAST swissprot:TM40L_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:TM40L_HUMAN BioCyc ZFISH:ENSG00000158882-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000158882-MONOMER COXPRESdb 84134 http://coxpresdb.jp/data/gene/84134.shtml CleanEx HS_TOMM40L http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_TOMM40L DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1133427 http://dx.doi.org/10.1126/science.1133427 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 EMBL AK027704 http://www.ebi.ac.uk/ena/data/view/AK027704 EMBL AK297848 http://www.ebi.ac.uk/ena/data/view/AK297848 EMBL AL590714 http://www.ebi.ac.uk/ena/data/view/AL590714 EMBL BC014946 http://www.ebi.ac.uk/ena/data/view/BC014946 EMBL BX537951 http://www.ebi.ac.uk/ena/data/view/BX537951 EMBL CH471121 http://www.ebi.ac.uk/ena/data/view/CH471121 EMBL CH471121 http://www.ebi.ac.uk/ena/data/view/CH471121 EMBL CH471121 http://www.ebi.ac.uk/ena/data/view/CH471121 Ensembl ENST00000367987 http://www.ensembl.org/id/ENST00000367987 Ensembl ENST00000367988 http://www.ensembl.org/id/ENST00000367988 Ensembl ENST00000545897 http://www.ensembl.org/id/ENST00000545897 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005742 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005742 GO_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GO_component GO:0046930 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046930 GO_function GO:0015266 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015266 GO_function GO:0015288 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015288 GO_process GO:0006811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006811 GO_process GO:0030150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030150 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 2.40.160.10 http://www.cathdb.info/version/latest/superfamily/2.40.160.10 GeneCards TOMM40L http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=TOMM40L GeneID 84134 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=84134 GeneTree ENSGT00390000003308 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000003308 HGNC HGNC:25756 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:25756 HOGENOM HOG000007440 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000007440&db=HOGENOM6 HOVERGEN HBG054707 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG054707&db=HOVERGEN HPA HPA051304 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA051304 InParanoid Q969M1 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q969M1 IntAct Q969M1 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q969M1* InterPro IPR023614 http://www.ebi.ac.uk/interpro/entry/IPR023614 InterPro IPR027246 http://www.ebi.ac.uk/interpro/entry/IPR027246 Jabion 84134 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=84134 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Gene hsa:84134 http://www.genome.jp/dbget-bin/www_bget?hsa:84134 KEGG_Orthology KO:K11518 http://www.genome.jp/dbget-bin/www_bget?KO:K11518 KEGG_Pathway ko05014 http://www.genome.jp/kegg-bin/show_pathway?ko05014 MINT MINT-4650450 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-4650450 OMA WGDRTIT http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=WGDRTIT OrthoDB EOG091G0MNA http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0MNA PSORT swissprot:TM40L_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:TM40L_HUMAN PSORT-B swissprot:TM40L_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:TM40L_HUMAN PSORT2 swissprot:TM40L_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:TM40L_HUMAN Pfam PF01459 http://pfam.xfam.org/family/PF01459 PharmGKB PA142670714 http://www.pharmgkb.org/do/serve?objId=PA142670714&objCls=Gene Phobius swissprot:TM40L_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:TM40L_HUMAN PhylomeDB Q969M1 http://phylomedb.org/?seqid=Q969M1 ProteinModelPortal Q969M1 http://www.proteinmodelportal.org/query/uniprot/Q969M1 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 16959974 http://www.ncbi.nlm.nih.gov/pubmed/16959974 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 RefSeq NP_001273302 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001273302 RefSeq NP_115550 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_115550 RefSeq XP_006711635 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006711635 RefSeq XP_016857970 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016857970 RefSeq XP_016857971 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016857971 STRING 9606.ENSP00000356966 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000356966&targetmode=cogs UCSC uc001fzd http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001fzd&org=rat UniGene Hs.321653 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.321653 UniProtKB TM40L_HUMAN http://www.uniprot.org/uniprot/TM40L_HUMAN UniProtKB-AC Q969M1 http://www.uniprot.org/uniprot/Q969M1 charge swissprot:TM40L_HUMAN http://rest.g-language.org/emboss/charge/swissprot:TM40L_HUMAN eggNOG ENOG410XS2U http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XS2U eggNOG KOG3296 http://eggnogapi.embl.de/nog_data/html/tree/KOG3296 epestfind swissprot:TM40L_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:TM40L_HUMAN garnier swissprot:TM40L_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:TM40L_HUMAN helixturnhelix swissprot:TM40L_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:TM40L_HUMAN hmoment swissprot:TM40L_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:TM40L_HUMAN iep swissprot:TM40L_HUMAN http://rest.g-language.org/emboss/iep/swissprot:TM40L_HUMAN inforesidue swissprot:TM40L_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:TM40L_HUMAN neXtProt NX_Q969M1 http://www.nextprot.org/db/entry/NX_Q969M1 octanol swissprot:TM40L_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:TM40L_HUMAN pepcoil swissprot:TM40L_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:TM40L_HUMAN pepdigest swissprot:TM40L_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:TM40L_HUMAN pepinfo swissprot:TM40L_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:TM40L_HUMAN pepnet swissprot:TM40L_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:TM40L_HUMAN pepstats swissprot:TM40L_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:TM40L_HUMAN pepwheel swissprot:TM40L_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:TM40L_HUMAN pepwindow swissprot:TM40L_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:TM40L_HUMAN sigcleave swissprot:TM40L_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:TM40L_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS NIPA1_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q7RTP0-1; Sequence=Displayed; Name=2; IsoId=Q7RTP0-2; Sequence=VSP_017189; # AltName NIPA1_HUMAN Non-imprinted in Prader-Willi/Angelman syndrome region protein 1 # AltName NIPA1_HUMAN Spastic paraplegia 6 protein # CCDS CCDS73691 -. [Q7RTP0-1] # CCDS CCDS73692 -. [Q7RTP0-2] # ChiTaRS NIPA1 human # DISEASE NIPA1_HUMAN Spastic paraplegia 6, autosomal dominant (SPG6) [MIM 600363] A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. {ECO 0000269|PubMed 14508710, ECO 0000269|PubMed 15643603}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000337435 ENSP00000337452; ENSG00000170113. [Q7RTP0-1] # Ensembl ENST00000437912 ENSP00000393962; ENSG00000170113. [Q7RTP0-2] # Ensembl ENST00000561183 ENSP00000453722; ENSG00000170113. [Q7RTP0-2] # ExpressionAtlas Q7RTP0 baseline and differential # FUNCTION NIPA1_HUMAN Acts as a Mg(2+) transporter. Can also transport other divalent cations such as Fe(2+), Sr(2+), Ba(2+), Mn(2+) and Co(2+) but to a much less extent than Mg(2+) (By similarity). {ECO 0000250}. # GO_component GO:0005769 early endosome; IEA:UniProtKB-SubCell. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0016020 membrane; IBA:GO_Central. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0015095 magnesium ion transmembrane transporter activity; TAS:Reactome. # GO_process GO:0015693 magnesium ion transport; IBA:GO_Central. # GO_process GO:0055085 transmembrane transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005768 endosome # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0055085 transmembrane transport # Genevisible Q7RTP0 HS # HGNC HGNC:17043 NIPA1 # InterPro IPR008521 Mg_trans_NIPA # KEGG_Disease H00266 [Nervous system disease; Muscular disease] Hereditary spastic paraplegia (SPG) # MIM 600363 phenotype # MIM 608145 gene # Organism NIPA1_HUMAN Homo sapiens (Human) # Orphanet 100988 Autosomal dominant spastic paraplegia type 6 # PANTHER PTHR12570 PTHR12570 # Pfam PF05653 Mg_trans_NIPA # Proteomes UP000005640 Chromosome 15 # Reactome R-HSA-5223345 Miscellaneous transport and binding events # RecName NIPA1_HUMAN Magnesium transporter NIPA1 # RefSeq NP_001135747 NM_001142275.1. [Q7RTP0-2] # RefSeq NP_653200 NM_144599.4. [Q7RTP0-1] # SEQUENCE CAUTION Sequence=BAC67707.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAC67707.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the NIPA family. {ECO 0000305}. # SUBCELLULAR LOCATION NIPA1_HUMAN Cell membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. Early endosome {ECO 0000250}. Note=Recruited to the cell membrane in response to low extracellular magnesium. {ECO 0000250}. # SUBUNIT Homodimer. {ECO 0000250}. # TCDB 2.A.7.25 the drug/metabolite transporter (dmt) superfamily # TISSUE SPECIFICITY Widely expressed with highest levels in neuronal tissues. {ECO:0000269|PubMed 14508710}. # UCSC uc001yvc human. [Q7RTP0-1] # eggNOG ENOG410XNR8 LUCA # eggNOG KOG2922 Eukaryota BLAST swissprot:NIPA1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:NIPA1_HUMAN COXPRESdb 123606 http://coxpresdb.jp/data/gene/123606.shtml CleanEx HS_NIPA1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_NIPA1 DOI 10.1002/humu.20126 http://dx.doi.org/10.1002/humu.20126 DOI 10.1021/pr0502065 http://dx.doi.org/10.1021/pr0502065 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.1210303109 http://dx.doi.org/10.1073/pnas.1210303109 DOI 10.1086/378816 http://dx.doi.org/10.1086/378816 DOI 10.1086/378817 http://dx.doi.org/10.1086/378817 DOI 10.1101/gr.709603 http://dx.doi.org/10.1101/gr.709603 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 EMBL AB089319 http://www.ebi.ac.uk/ena/data/view/AB089319 EMBL AK314073 http://www.ebi.ac.uk/ena/data/view/AK314073 EMBL BK001020 http://www.ebi.ac.uk/ena/data/view/BK001020 EMBL BX537997 http://www.ebi.ac.uk/ena/data/view/BX537997 EMBL BX648722 http://www.ebi.ac.uk/ena/data/view/BX648722 EMBL CH471258 http://www.ebi.ac.uk/ena/data/view/CH471258 EMBL CR614719 http://www.ebi.ac.uk/ena/data/view/CR614719 Ensembl ENST00000337435 http://www.ensembl.org/id/ENST00000337435 Ensembl ENST00000437912 http://www.ensembl.org/id/ENST00000437912 Ensembl ENST00000561183 http://www.ensembl.org/id/ENST00000561183 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005769 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005769 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0015095 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015095 GO_process GO:0015693 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015693 GO_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards NIPA1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=NIPA1 GeneID 123606 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=123606 GeneTree ENSGT00550000074395 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074395 HGNC HGNC:17043 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:17043 HOGENOM HOG000203962 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000203962&db=HOGENOM6 HOVERGEN HBG055032 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG055032&db=HOVERGEN HPA HPA023269 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA023269 InParanoid Q7RTP0 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q7RTP0 InterPro IPR008521 http://www.ebi.ac.uk/interpro/entry/IPR008521 Jabion 123606 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=123606 KEGG_Disease H00266 http://www.genome.jp/dbget-bin/www_bget?H00266 KEGG_Gene hsa:123606 http://www.genome.jp/dbget-bin/www_bget?hsa:123606 MIM 600363 http://www.ncbi.nlm.nih.gov/omim/600363 MIM 608145 http://www.ncbi.nlm.nih.gov/omim/608145 OMA EWSNVGV http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=EWSNVGV Orphanet 100988 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=100988 OrthoDB EOG091G0M8A http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0M8A PANTHER PTHR12570 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12570 PSORT swissprot:NIPA1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:NIPA1_HUMAN PSORT-B swissprot:NIPA1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:NIPA1_HUMAN PSORT2 swissprot:NIPA1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:NIPA1_HUMAN Pfam PF05653 http://pfam.xfam.org/family/PF05653 PharmGKB PA134967361 http://www.pharmgkb.org/do/serve?objId=PA134967361&objCls=Gene Phobius swissprot:NIPA1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:NIPA1_HUMAN PhylomeDB Q7RTP0 http://phylomedb.org/?seqid=Q7RTP0 ProteinModelPortal Q7RTP0 http://www.proteinmodelportal.org/query/uniprot/Q7RTP0 PubMed 12805275 http://www.ncbi.nlm.nih.gov/pubmed/12805275 PubMed 14508708 http://www.ncbi.nlm.nih.gov/pubmed/14508708 PubMed 14508710 http://www.ncbi.nlm.nih.gov/pubmed/14508710 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15643603 http://www.ncbi.nlm.nih.gov/pubmed/15643603 PubMed 16335952 http://www.ncbi.nlm.nih.gov/pubmed/16335952 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 PubMed 22814378 http://www.ncbi.nlm.nih.gov/pubmed/22814378 Reactome R-HSA-5223345 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5223345 RefSeq NP_001135747 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001135747 RefSeq NP_653200 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_653200 STRING 9606.ENSP00000337452 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000337452&targetmode=cogs TCDB 2.A.7.25 http://www.tcdb.org/search/result.php?tc=2.A.7.25 UCSC uc001yvc http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001yvc&org=rat UniGene Hs.511797 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.511797 UniProtKB NIPA1_HUMAN http://www.uniprot.org/uniprot/NIPA1_HUMAN UniProtKB-AC Q7RTP0 http://www.uniprot.org/uniprot/Q7RTP0 charge swissprot:NIPA1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:NIPA1_HUMAN eggNOG ENOG410XNR8 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XNR8 eggNOG KOG2922 http://eggnogapi.embl.de/nog_data/html/tree/KOG2922 epestfind swissprot:NIPA1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:NIPA1_HUMAN garnier swissprot:NIPA1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:NIPA1_HUMAN helixturnhelix swissprot:NIPA1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:NIPA1_HUMAN hmoment swissprot:NIPA1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:NIPA1_HUMAN iep swissprot:NIPA1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:NIPA1_HUMAN inforesidue swissprot:NIPA1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:NIPA1_HUMAN neXtProt NX_Q7RTP0 http://www.nextprot.org/db/entry/NX_Q7RTP0 octanol swissprot:NIPA1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:NIPA1_HUMAN pepcoil swissprot:NIPA1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:NIPA1_HUMAN pepdigest swissprot:NIPA1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:NIPA1_HUMAN pepinfo swissprot:NIPA1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:NIPA1_HUMAN pepnet swissprot:NIPA1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:NIPA1_HUMAN pepstats swissprot:NIPA1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:NIPA1_HUMAN pepwheel swissprot:NIPA1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:NIPA1_HUMAN pepwindow swissprot:NIPA1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:NIPA1_HUMAN sigcleave swissprot:NIPA1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:NIPA1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS KCNK6_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9Y257-1; Sequence=Displayed; Name=2; IsoId=Q9Y257-2; Sequence=VSP_006692; # AltName KCNK6_HUMAN Inward rectifying potassium channel protein TWIK-2 # AltName KCNK6_HUMAN TWIK-originated similarity sequence # CCDS CCDS12513 -. [Q9Y257-1] # ChiTaRS KCNK6 human # DrugBank DB00308 Ibutilide # DrugBank DB00908 Quinidine # Ensembl ENST00000263372 ENSP00000263372; ENSG00000099337. [Q9Y257-1] # ExpressionAtlas Q9Y257 baseline and differential # FUNCTION KCNK6_HUMAN Exhibits outward rectification in a physiological K(+) gradient and mild inward rectification in symmetrical K(+) conditions. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0008076 voltage-gated potassium channel complex; TAS:ProtInc. # GO_function GO:0005242 inward rectifier potassium channel activity; TAS:ProtInc. # GO_function GO:0005267 potassium channel activity; TAS:Reactome. # GO_function GO:0022841 potassium ion leak channel activity; IBA:GO_Central. # GO_process GO:0003085 negative regulation of systemic arterial blood pressure; IEA:Ensembl. # GO_process GO:0006813 potassium ion transport; TAS:ProtInc. # GO_process GO:0030322 stabilization of membrane potential; IBA:GO_Central. # GO_process GO:0060075 regulation of resting membrane potential; IEA:Ensembl. # GO_process GO:0061337 cardiac conduction; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # Genevisible Q9Y257 HS # HGNC HGNC:6281 KCNK6 # InterPro IPR003092 2pore_dom_K_chnl_TASK # InterPro IPR003280 2pore_dom_K_chnl # InterPro IPR005408 2pore_dom_K_chnl_TWIK # InterPro IPR005409 2pore_dom_K_chnl_TWIK2 # InterPro IPR013099 K_chnl_dom # KEGG_Brite ko04040 Ion channels # MIM 603939 gene # MISCELLANEOUS KCNK6_HUMAN Inhibited by internal acidification and, to a small degree, by zinc. Not inhibited by quinine, quinidine or barium. # Organism KCNK6_HUMAN Homo sapiens (Human) # PIRSF PIRSF038061 K_channel_subfamily_K_type # PRINTS PR01333 2POREKCHANEL # PRINTS PR01586 TWIKCHANNEL # PRINTS PR01587 TWIK2CHANNEL # Pfam PF07885 Ion_trans_2; 2 # Proteomes UP000005640 Chromosome 19 # Reactome R-HSA-1299308 Tandem of pore domain in a weak inwardly rectifying K+ channels (TWIK) # Reactome R-HSA-5576886 Phase 4 - resting membrane potential # RecName KCNK6_HUMAN Potassium channel subfamily K member 6 # RefSeq NP_004814 NM_004823.1. [Q9Y257-1] # RefSeq XP_011525828 XM_011527526.1. [Q9Y257-2] # SIMILARITY Belongs to the two pore domain potassium channel (TC 1.A.1.8) family. {ECO 0000305}. # SUBCELLULAR LOCATION KCNK6_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # SUBUNIT Homodimer. {ECO 0000305}. # TCDB 1.A.1.8 the voltage-gated ion channel (vic) superfamily # TISSUE SPECIFICITY KCNK6_HUMAN Widespread expression, detected in all tissues tested except for skeletal muscle. Strongest expression in placenta, pancreas, heart, colon and spleen, lower levels detected in peripheral blood leukocytes, lung, liver, kidney and thymus. Lowest expression detected in brain. # UCSC uc002oic human. [Q9Y257-1] # eggNOG COG1226 LUCA # eggNOG KOG1418 Eukaryota BLAST swissprot:KCNK6_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCNK6_HUMAN BioCyc ZFISH:ENSG00000099337-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000099337-MONOMER COXPRESdb 9424 http://coxpresdb.jp/data/gene/9424.shtml CleanEx HS_KCNK6 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNK6 DOI 10.1016/S0014-5793(99)00495-0 http://dx.doi.org/10.1016/S0014-5793(99)00495-0 DOI 10.1074/jbc.274.12.7887 http://dx.doi.org/10.1074/jbc.274.12.7887 DOI 10.1074/jbc.M003755200 http://dx.doi.org/10.1074/jbc.M003755200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DrugBank DB00308 http://www.drugbank.ca/drugs/DB00308 DrugBank DB00908 http://www.drugbank.ca/drugs/DB00908 EMBL AF117708 http://www.ebi.ac.uk/ena/data/view/AF117708 EMBL AF134149 http://www.ebi.ac.uk/ena/data/view/AF134149 EMBL AF281302 http://www.ebi.ac.uk/ena/data/view/AF281302 EMBL AF281303 http://www.ebi.ac.uk/ena/data/view/AF281303 EMBL AJ297404 http://www.ebi.ac.uk/ena/data/view/AJ297404 EMBL AJ297405 http://www.ebi.ac.uk/ena/data/view/AJ297405 EMBL BC004367 http://www.ebi.ac.uk/ena/data/view/BC004367 Ensembl ENST00000263372 http://www.ensembl.org/id/ENST00000263372 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0008076 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008076 GO_function GO:0005242 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005242 GO_function GO:0005267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005267 GO_function GO:0022841 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022841 GO_process GO:0003085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003085 GO_process GO:0006813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006813 GO_process GO:0030322 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030322 GO_process GO:0060075 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060075 GO_process GO:0061337 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061337 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GeneCards KCNK6 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNK6 GeneID 9424 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=9424 GeneTree ENSGT00760000118858 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118858 H-InvDB HIX0202814 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0202814 HGNC HGNC:6281 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6281 HOGENOM HOG000286014 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000286014&db=HOGENOM6 HOVERGEN HBG052237 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052237&db=HOVERGEN HPA CAB022637 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB022637 HPA HPA040184 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA040184 InParanoid Q9Y257 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9Y257 InterPro IPR003092 http://www.ebi.ac.uk/interpro/entry/IPR003092 InterPro IPR003280 http://www.ebi.ac.uk/interpro/entry/IPR003280 InterPro IPR005408 http://www.ebi.ac.uk/interpro/entry/IPR005408 InterPro IPR005409 http://www.ebi.ac.uk/interpro/entry/IPR005409 InterPro IPR013099 http://www.ebi.ac.uk/interpro/entry/IPR013099 Jabion 9424 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=9424 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:9424 http://www.genome.jp/dbget-bin/www_bget?hsa:9424 KEGG_Orthology KO:K04917 http://www.genome.jp/dbget-bin/www_bget?KO:K04917 MIM 603939 http://www.ncbi.nlm.nih.gov/omim/603939 OMA PAVIFAH http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=PAVIFAH OrthoDB EOG091G0DIX http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0DIX PRINTS PR01333 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01333 PRINTS PR01586 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01586 PRINTS PR01587 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01587 PSORT swissprot:KCNK6_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCNK6_HUMAN PSORT-B swissprot:KCNK6_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCNK6_HUMAN PSORT2 swissprot:KCNK6_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCNK6_HUMAN Pfam PF07885 http://pfam.xfam.org/family/PF07885 PharmGKB PA30063 http://www.pharmgkb.org/do/serve?objId=PA30063&objCls=Gene Phobius swissprot:KCNK6_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCNK6_HUMAN PhylomeDB Q9Y257 http://phylomedb.org/?seqid=Q9Y257 ProteinModelPortal Q9Y257 http://www.proteinmodelportal.org/query/uniprot/Q9Y257 PubMed 10075682 http://www.ncbi.nlm.nih.gov/pubmed/10075682 PubMed 10359073 http://www.ncbi.nlm.nih.gov/pubmed/10359073 PubMed 10887187 http://www.ncbi.nlm.nih.gov/pubmed/10887187 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 Reactome R-HSA-1299308 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1299308 Reactome R-HSA-5576886 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576886 RefSeq NP_004814 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004814 RefSeq XP_011525828 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011525828 SMR Q9Y257 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9Y257 STRING 9606.ENSP00000263372 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000263372&targetmode=cogs TCDB 1.A.1.8 http://www.tcdb.org/search/result.php?tc=1.A.1.8 UCSC uc002oic http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002oic&org=rat UniGene Hs.240395 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.240395 UniProtKB KCNK6_HUMAN http://www.uniprot.org/uniprot/KCNK6_HUMAN UniProtKB-AC Q9Y257 http://www.uniprot.org/uniprot/Q9Y257 charge swissprot:KCNK6_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCNK6_HUMAN eggNOG COG1226 http://eggnogapi.embl.de/nog_data/html/tree/COG1226 eggNOG KOG1418 http://eggnogapi.embl.de/nog_data/html/tree/KOG1418 epestfind swissprot:KCNK6_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCNK6_HUMAN garnier swissprot:KCNK6_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCNK6_HUMAN helixturnhelix swissprot:KCNK6_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCNK6_HUMAN hmoment swissprot:KCNK6_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCNK6_HUMAN iep swissprot:KCNK6_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCNK6_HUMAN inforesidue swissprot:KCNK6_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCNK6_HUMAN neXtProt NX_Q9Y257 http://www.nextprot.org/db/entry/NX_Q9Y257 octanol swissprot:KCNK6_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCNK6_HUMAN pepcoil swissprot:KCNK6_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCNK6_HUMAN pepdigest swissprot:KCNK6_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCNK6_HUMAN pepinfo swissprot:KCNK6_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCNK6_HUMAN pepnet swissprot:KCNK6_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCNK6_HUMAN pepstats swissprot:KCNK6_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCNK6_HUMAN pepwheel swissprot:KCNK6_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCNK6_HUMAN pepwindow swissprot:KCNK6_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCNK6_HUMAN sigcleave swissprot:KCNK6_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCNK6_HUMAN ## Database ID URL or Descriptions # AltName KCNKD_HUMAN Tandem pore domain halothane-inhibited potassium channel 1 # Ensembl ENST00000282146 ENSP00000282146; ENSG00000152315 # FUNCTION KCNKD_HUMAN Potassium channel displaying weak inward rectification in symmetrical K(+) solution. {ECO 0000250}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_function GO:0005244 voltage-gated ion channel activity; IEA:UniProtKB-KW. # GO_function GO:0005267 potassium channel activity; TAS:Reactome. # GO_function GO:0022841 potassium ion leak channel activity; IBA:GO_Central. # GO_process GO:0030322 stabilization of membrane potential; IBA:GO_Central. # GO_process GO:0071805 potassium ion transmembrane transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0008150 biological_process # GOslim_process GO:0055085 transmembrane transport # Genevisible Q9HB14 HS # HGNC HGNC:6275 KCNK13 # InterPro IPR003280 2pore_dom_K_chnl # InterPro IPR005410 2pore_dom_K_chnl_THIK # InterPro IPR013099 K_chnl_dom # KEGG_Brite ko04040 Ion channels # MIM 607367 gene # MISCELLANEOUS The current is enhanced by arachidonic acid and inhibited by halothane. {ECO 0000250}. # Organism KCNKD_HUMAN Homo sapiens (Human) # PRINTS PR01333 2POREKCHANEL # PRINTS PR01588 THIKCHANNEL # Pfam PF07885 Ion_trans_2; 2 # Proteomes UP000005640 Chromosome 14 # Reactome R-HSA-1299287 Tandem pore domain halothane-inhibited K+ channel (THIK) # Reactome R-HSA-5576886 Phase 4 - resting membrane potential # RecName KCNKD_HUMAN Potassium channel subfamily K member 13 # RefSeq NP_071337 NM_022054.3 # SIMILARITY Belongs to the two pore domain potassium channel (TC 1.A.1.8) family. {ECO 0000305}. # SUBCELLULAR LOCATION KCNKD_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # SUBUNIT Homodimer. {ECO 0000305}. # UCSC uc001xye human # eggNOG ENOG410XRZJ LUCA # eggNOG KOG4404 Eukaryota BLAST swissprot:KCNKD_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCNKD_HUMAN BioCyc ZFISH:ENSG00000152315-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000152315-MONOMER COXPRESdb 56659 http://coxpresdb.jp/data/gene/56659.shtml CleanEx HS_KCNK13 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNK13 DOI 10.1038/bjp.2008.213 http://dx.doi.org/10.1038/bjp.2008.213 DOI 10.1074/jbc.M008985200 http://dx.doi.org/10.1074/jbc.M008985200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AF287303 http://www.ebi.ac.uk/ena/data/view/AF287303 EMBL BC012779 http://www.ebi.ac.uk/ena/data/view/BC012779 EMBL CH471061 http://www.ebi.ac.uk/ena/data/view/CH471061 EMBL EU978942 http://www.ebi.ac.uk/ena/data/view/EU978942 Ensembl ENST00000282146 http://www.ensembl.org/id/ENST00000282146 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0005244 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005244 GO_function GO:0005267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005267 GO_function GO:0022841 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022841 GO_process GO:0030322 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030322 GO_process GO:0071805 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071805 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards KCNK13 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNK13 GeneID 56659 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=56659 GeneTree ENSGT00860000133807 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00860000133807 HGNC HGNC:6275 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6275 HOGENOM HOG000013227 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000013227&db=HOGENOM6 HOVERGEN HBG052238 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052238&db=HOVERGEN HPA HPA003514 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA003514 InParanoid Q9HB14 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9HB14 InterPro IPR003280 http://www.ebi.ac.uk/interpro/entry/IPR003280 InterPro IPR005410 http://www.ebi.ac.uk/interpro/entry/IPR005410 InterPro IPR013099 http://www.ebi.ac.uk/interpro/entry/IPR013099 Jabion 56659 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=56659 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:56659 http://www.genome.jp/dbget-bin/www_bget?hsa:56659 KEGG_Orthology KO:K04922 http://www.genome.jp/dbget-bin/www_bget?KO:K04922 MIM 607367 http://www.ncbi.nlm.nih.gov/omim/607367 OMA VNWILRK http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=VNWILRK OrthoDB EOG091G06SB http://cegg.unige.ch/orthodb/results?searchtext=EOG091G06SB PRINTS PR01333 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01333 PRINTS PR01588 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01588 PSORT swissprot:KCNKD_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCNKD_HUMAN PSORT-B swissprot:KCNKD_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCNKD_HUMAN PSORT2 swissprot:KCNKD_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCNKD_HUMAN Pfam PF07885 http://pfam.xfam.org/family/PF07885 PharmGKB PA30055 http://www.pharmgkb.org/do/serve?objId=PA30055&objCls=Gene Phobius swissprot:KCNKD_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCNKD_HUMAN PhylomeDB Q9HB14 http://phylomedb.org/?seqid=Q9HB14 ProteinModelPortal Q9HB14 http://www.proteinmodelportal.org/query/uniprot/Q9HB14 PubMed 11060316 http://www.ncbi.nlm.nih.gov/pubmed/11060316 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 18516069 http://www.ncbi.nlm.nih.gov/pubmed/18516069 Reactome R-HSA-1299287 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1299287 Reactome R-HSA-5576886 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576886 RefSeq NP_071337 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_071337 SMR Q9HB14 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9HB14 STRING 9606.ENSP00000282146 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000282146&targetmode=cogs UCSC uc001xye http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001xye&org=rat UniGene Hs.510191 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.510191 UniProtKB KCNKD_HUMAN http://www.uniprot.org/uniprot/KCNKD_HUMAN UniProtKB-AC Q9HB14 http://www.uniprot.org/uniprot/Q9HB14 charge swissprot:KCNKD_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCNKD_HUMAN eggNOG ENOG410XRZJ http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XRZJ eggNOG KOG4404 http://eggnogapi.embl.de/nog_data/html/tree/KOG4404 epestfind swissprot:KCNKD_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCNKD_HUMAN garnier swissprot:KCNKD_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCNKD_HUMAN helixturnhelix swissprot:KCNKD_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCNKD_HUMAN hmoment swissprot:KCNKD_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCNKD_HUMAN iep swissprot:KCNKD_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCNKD_HUMAN inforesidue swissprot:KCNKD_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCNKD_HUMAN neXtProt NX_Q9HB14 http://www.nextprot.org/db/entry/NX_Q9HB14 octanol swissprot:KCNKD_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCNKD_HUMAN pepcoil swissprot:KCNKD_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCNKD_HUMAN pepdigest swissprot:KCNKD_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCNKD_HUMAN pepinfo swissprot:KCNKD_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCNKD_HUMAN pepnet swissprot:KCNKD_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCNKD_HUMAN pepstats swissprot:KCNKD_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCNKD_HUMAN pepwheel swissprot:KCNKD_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCNKD_HUMAN pepwindow swissprot:KCNKD_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCNKD_HUMAN sigcleave swissprot:KCNKD_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCNKD_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS SL9B2_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q86UD5-1; Sequence=Displayed; Name=2; IsoId=Q86UD5-2; Sequence=VSP_033152, VSP_033153; Note=No experimental confirmation available.; # AltName SL9B2_HUMAN Mitochondrial Na(+)/H(+) exchanger NHA2 # AltName SL9B2_HUMAN Na(+)/H(+) exchanger-like domain-containing protein 2 # AltName SL9B2_HUMAN Sodium/hydrogen exchanger-like domain-containing protein 2 # AltName SL9B2_HUMAN Solute carrier family 9 subfamily B member 2 # CCDS CCDS3662 -. [Q86UD5-1] # ChiTaRS SLC9B2 human # Ensembl ENST00000362026 ENSP00000354574; ENSG00000164038. [Q86UD5-1] # Ensembl ENST00000394785 ENSP00000378265; ENSG00000164038. [Q86UD5-1] # ExpressionAtlas Q86UD5 baseline and differential # FUNCTION SL9B2_HUMAN Electroneutral exchange of protons for Na(+) and Li(+) across the inner mitochondrial membrane. Contributes to the organellar volume homeostasis. Required for osteoclast differentiation and bone resorption activity (By similarity). {ECO 0000250, ECO 0000269|PubMed 18000046}. # GO_component GO:0005743 mitochondrial inner membrane; TAS:Reactome. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function SL9B2_HUMAN GO 0005451 monovalent cation proton antiporter activity; TAS Reactome. # GO_process GO:0006814 sodium ion transport; IEA:UniProtKB-KW. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:2001206 positive regulation of osteoclast development; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0055085 transmembrane transport # Genevisible Q86UD5 HS # HGNC HGNC:25143 SLC9B2 # IntAct Q86UD5 3 # InterPro IPR006153 Cation/H_exchanger # InterPro IPR030187 NHA2 # MIM 611789 gene # Organism SL9B2_HUMAN Homo sapiens (Human) # PANTHER PTHR31102:SF6 PTHR31102:SF6 # Pfam PF00999 Na_H_Exchanger # Proteomes UP000005640 Chromosome 4 # Reactome R-HSA-2672351 Stimuli-sensing channels # RecName SL9B2_HUMAN Mitochondrial sodium/hydrogen exchanger 9B2 # RefSeq NP_001287685 NM_001300756.1 # RefSeq NP_849155 NM_178833.5. [Q86UD5-1] # RefSeq XP_006714148 XM_006714085.2. [Q86UD5-1] # SIMILARITY Belongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family. {ECO 0000305}. # SUBCELLULAR LOCATION SL9B2_HUMAN Mitochondrion membrane {ECO 0000250}; Multi- pass membrane protein {ECO 0000250}. # TCDB 2.A.36.2:the monovalent cation proton antiporter-1 (cpa1) family # TISSUE SPECIFICITY SL9B2_HUMAN Detected in red blood cells (at protein level). # UCSC uc003hwx human. [Q86UD5-1] # eggNOG COG0025 LUCA # eggNOG KOG3826 Eukaryota BLAST swissprot:SL9B2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SL9B2_HUMAN COXPRESdb 133308 http://coxpresdb.jp/data/gene/133308.shtml CleanEx HS_NHEDC2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_NHEDC2 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.0707120104 http://dx.doi.org/10.1073/pnas.0707120104 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AC097485 http://www.ebi.ac.uk/ena/data/view/AC097485 EMBL AK172823 http://www.ebi.ac.uk/ena/data/view/AK172823 EMBL BC009732 http://www.ebi.ac.uk/ena/data/view/BC009732 EMBL BC047447 http://www.ebi.ac.uk/ena/data/view/BC047447 EMBL CH471057 http://www.ebi.ac.uk/ena/data/view/CH471057 Ensembl ENST00000362026 http://www.ensembl.org/id/ENST00000362026 Ensembl ENST00000394785 http://www.ensembl.org/id/ENST00000394785 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005451 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005451 GO_process GO:0006814 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006814 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:2001206 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2001206 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC9B2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC9B2 GeneID 133308 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=133308 GeneTree ENSGT00390000013285 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000013285 HGNC HGNC:25143 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:25143 HOGENOM HOG000060325 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000060325&db=HOGENOM6 HOVERGEN HBG108184 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG108184&db=HOVERGEN HPA HPA047008 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA047008 InParanoid Q86UD5 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q86UD5 IntAct Q86UD5 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q86UD5* InterPro IPR006153 http://www.ebi.ac.uk/interpro/entry/IPR006153 InterPro IPR030187 http://www.ebi.ac.uk/interpro/entry/IPR030187 Jabion 133308 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=133308 KEGG_Gene hsa:133308 http://www.genome.jp/dbget-bin/www_bget?hsa:133308 MIM 611789 http://www.ncbi.nlm.nih.gov/omim/611789 OMA KIVAVAW http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=KIVAVAW OrthoDB EOG091G06PH http://cegg.unige.ch/orthodb/results?searchtext=EOG091G06PH PANTHER PTHR31102:SF6 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR31102:SF6 PSORT swissprot:SL9B2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SL9B2_HUMAN PSORT-B swissprot:SL9B2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SL9B2_HUMAN PSORT2 swissprot:SL9B2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SL9B2_HUMAN Pfam PF00999 http://pfam.xfam.org/family/PF00999 PharmGKB PA162397515 http://www.pharmgkb.org/do/serve?objId=PA162397515&objCls=Gene Phobius swissprot:SL9B2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SL9B2_HUMAN PhylomeDB Q86UD5 http://phylomedb.org/?seqid=Q86UD5 ProteinModelPortal Q86UD5 http://www.proteinmodelportal.org/query/uniprot/Q86UD5 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 PubMed 18000046 http://www.ncbi.nlm.nih.gov/pubmed/18000046 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 Reactome R-HSA-2672351 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2672351 RefSeq NP_001287685 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001287685 RefSeq NP_849155 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_849155 RefSeq XP_006714148 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006714148 STRING 9606.ENSP00000354574 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000354574&targetmode=cogs TCDB 2.A.36.2 http://www.tcdb.org/search/result.php?tc=2.A.36.2 UCSC uc003hwx http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003hwx&org=rat UniGene Hs.546482 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.546482 UniProtKB SL9B2_HUMAN http://www.uniprot.org/uniprot/SL9B2_HUMAN UniProtKB-AC Q86UD5 http://www.uniprot.org/uniprot/Q86UD5 charge swissprot:SL9B2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SL9B2_HUMAN eggNOG COG0025 http://eggnogapi.embl.de/nog_data/html/tree/COG0025 eggNOG KOG3826 http://eggnogapi.embl.de/nog_data/html/tree/KOG3826 epestfind swissprot:SL9B2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SL9B2_HUMAN garnier swissprot:SL9B2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SL9B2_HUMAN helixturnhelix swissprot:SL9B2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SL9B2_HUMAN hmoment swissprot:SL9B2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SL9B2_HUMAN iep swissprot:SL9B2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SL9B2_HUMAN inforesidue swissprot:SL9B2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SL9B2_HUMAN neXtProt NX_Q86UD5 http://www.nextprot.org/db/entry/NX_Q86UD5 octanol swissprot:SL9B2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SL9B2_HUMAN pepcoil swissprot:SL9B2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SL9B2_HUMAN pepdigest swissprot:SL9B2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SL9B2_HUMAN pepinfo swissprot:SL9B2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SL9B2_HUMAN pepnet swissprot:SL9B2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SL9B2_HUMAN pepstats swissprot:SL9B2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SL9B2_HUMAN pepwheel swissprot:SL9B2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SL9B2_HUMAN pepwindow swissprot:SL9B2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SL9B2_HUMAN sigcleave swissprot:SL9B2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SL9B2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS SLC31_HUMAN Event=Alternative splicing; Named isoforms=7; Name=A; IsoId=Q07837-1; Sequence=Displayed; Name=B; IsoId=Q07837-2; Sequence=VSP_054339; Name=C; IsoId=Q07837-3; Sequence=VSP_054342, VSP_054343; Name=D; IsoId=Q07837-4; Sequence=VSP_054340, VSP_054341; Name=E; IsoId=Q07837-5; Sequence=VSP_054344, VSP_054345; Name=F; IsoId=Q07837-6; Sequence=VSP_054346, VSP_054349; Name=G; IsoId=Q07837-7; Sequence=VSP_054347, VSP_054348; # AltName SLC31_HUMAN D2h # AltName SLC31_HUMAN Solute carrier family 3 member 1 # AltName SLC31_HUMAN b(0,+)-type amino acid transport protein # CAZy GH13 Glycoside Hydrolase Family 13 # CCDS CCDS1819 -. [Q07837-1] # ChiTaRS SLC3A1 human # DISEASE SLC31_HUMAN Cystinuria (CSNU) [MIM 220100] An autosomal disorder characterized by impaired epithelial cell transport of cystine and dibasic amino acids (lysine, ornithine, and arginine) in the proximal renal tubule and gastrointestinal tract. The impaired renal reabsorption of cystine and its low solubility causes the formation of calculi in the urinary tract, resulting in obstructive uropathy, pyelonephritis, and, rarely, renal failure. {ECO 0000269|PubMed 10738006, ECO 0000269|PubMed 11748844, ECO 0000269|PubMed 12234283, ECO 0000269|PubMed 15635077, ECO 0000269|PubMed 16138908, ECO 0000269|PubMed 16609684, ECO 0000269|PubMed 19782624, ECO 0000269|PubMed 7539209, ECO 0000269|PubMed 7573036, ECO 0000269|PubMed 7575432, ECO 0000269|PubMed 8054986, ECO 0000269|PubMed 9186880}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE SLC31_HUMAN Hypotonia-cystinuria syndrome (HCS) [MIM 606407] Characterized generalized hypotonia at birth, nephrolithiasis, growth hormone deficiency, minor facial dysmorphism, failure to thrive, followed by hyperphagia and rapid weight gain in late childhood. {ECO 0000269|PubMed 16385448}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DrugBank DB00138 L-Cystine # Ensembl ENST00000260649 ENSP00000260649; ENSG00000138079. [Q07837-1] # Ensembl ENST00000409229 ENSP00000386620; ENSG00000138079. [Q07837-6] # Ensembl ENST00000409380 ENSP00000386709; ENSG00000138079. [Q07837-2] # Ensembl ENST00000409740 ENSP00000386677; ENSG00000138079. [Q07837-4] # Ensembl ENST00000409741 ENSP00000386954; ENSG00000138079. [Q07837-5] # Ensembl ENST00000410056 ENSP00000387337; ENSG00000138079. [Q07837-3] # ExpressionAtlas Q07837 baseline and differential # FUNCTION SLC31_HUMAN Involved in the high-affinity, sodium-independent transport of cystine and neutral and dibasic amino acids (system B(0,+)-like activity). May function as an activator of SLC7A9 and be involved in the high-affinity reabsorption of cystine in the kidney tubule. {ECO 0000269|PubMed 11318953, ECO 0000269|PubMed 7686906, ECO 0000269|PubMed 8486766, ECO 0000269|PubMed 8663184}. # GO_component GO:0005743 mitochondrial inner membrane; IEA:Ensembl. # GO_component GO:0005774 vacuolar membrane; IEA:Ensembl. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0016020 membrane; TAS:ProtInc. # GO_component GO:0031526 brush border membrane; IDA:UniProtKB. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0003824 catalytic activity; IEA:InterPro. # GO_function GO:0015171 amino acid transmembrane transporter activity; TAS:ProtInc. # GO_function GO:0015174 basic amino acid transmembrane transporter activity; TAS:ProtInc. # GO_function GO:0015184 L-cystine transmembrane transporter activity; TAS:ProtInc. # GO_process GO:0005975 carbohydrate metabolic process; IEA:InterPro. # GO_process GO:0006520 cellular amino acid metabolic process; TAS:ProtInc. # GO_process GO:0006865 amino acid transport; TAS:Reactome. # GO_process GO:0015802 basic amino acid transport; TAS:ProtInc. # GO_process GO:0015811 L-cystine transport; TAS:ProtInc. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0005975 carbohydrate metabolic process # GOslim_process GO:0006520 cellular amino acid metabolic process # GOslim_process GO:0006810 transport # Gene3D 3.20.20.80 -; 2. # Genevisible Q07837 HS # HGNC HGNC:11025 SLC3A1 # InterPro IPR006047 Glyco_hydro_13_cat_dom # InterPro IPR013781 Glyco_hydro_catalytic_dom # InterPro IPR015902 Glyco_hydro_13 # InterPro IPR017853 Glycoside_hydrolase_SF # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02001 Solute carrier family # KEGG_Disease H00901 [Inherited metabolic disease; Urinary system disease; Kidney disease] Cystinuria # KEGG_Pathway ko04974 Protein digestion and absorption # MIM 104614 gene # MIM 220100 phenotype # MIM 606407 phenotype # Organism SLC31_HUMAN Homo sapiens (Human) # Orphanet 163690 Hypotonia - cystinuria syndrome # Orphanet 163693 2p21 microdeletion syndrome # Orphanet 238523 Atypical hypotonia - cystinuria syndrome # Orphanet 93612 Cystinuria type A # PANTHER PTHR10357 PTHR10357; 2 # PIR A47102 A47102 # Pfam PF00128 Alpha-amylase # Proteomes UP000005640 Chromosome 2 # Reactome R-HSA-352230 Amino acid transport across the plasma membrane # RecName SLC31_HUMAN Neutral and basic amino acid transport protein rBAT # RefSeq NP_000332 NM_000341.3. [Q07837-1] # SMART SM00642 Aamy # SUBCELLULAR LOCATION SLC31_HUMAN Membrane {ECO 0000269|PubMed 12167606}; Single-pass type II membrane protein {ECO 0000269|PubMed 12167606}. # SUBUNIT SLC31_HUMAN Disulfide-linked heterodimer with the amino acid transport protein SLC7A9. {ECO 0000269|PubMed 10588648, ECO 0000269|PubMed 12167606}. # SUPFAM SSF51445 SSF51445 # TCDB 8.A.9.1 the rbat transport accessory protein (rbat) family # TISSUE SPECIFICITY SLC31_HUMAN Expressed in the brush border membrane in the kidney (at protein level). Predominantly expressed in the kidney, small intestine and pancreas. Weakly expressed in liver. {ECO 0000269|PubMed 12167606, ECO 0000269|PubMed 7686906, ECO 0000269|PubMed 8486766}. # UCSC uc002rty human. [Q07837-1] # WEB RESOURCE SLC31_HUMAN Name=Cysdb; Note=Cystinuria database; URL="http //www.cysdb.mcgill.ca/"; # eggNOG COG0366 LUCA # eggNOG KOG0471 Eukaryota BLAST swissprot:SLC31_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SLC31_HUMAN BioCyc ZFISH:ENSG00000138079-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000138079-MONOMER COXPRESdb 6519 http://coxpresdb.jp/data/gene/6519.shtml CleanEx HS_SLC3A1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC3A1 DOI 10.1002/(SICI)1098-1004(200004)15:4<390::AID-HUMU33>3.0.CO http://dx.doi.org/10.1002/(SICI)1098-1004(200004)15:4<390::AID-HUMU33>3.0.CO DOI 10.1002/humu.1228 http://dx.doi.org/10.1002/humu.1228 DOI 10.1016/j.ygeno.2005.04.001 http://dx.doi.org/10.1016/j.ygeno.2005.04.001 DOI 10.1016/j.ymgme.2009.09.001 http://dx.doi.org/10.1016/j.ymgme.2009.09.001 DOI 10.1038/ki.1997.258 http://dx.doi.org/10.1038/ki.1997.258 DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1038/ng0494-420 http://dx.doi.org/10.1038/ng0494-420 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1038/sj.ki.5000241 http://dx.doi.org/10.1038/sj.ki.5000241 DOI 10.1042/bj3100951 http://dx.doi.org/10.1042/bj3100951 DOI 10.1046/j.1523-1755.2001.0590051821.x http://dx.doi.org/10.1046/j.1523-1755.2001.0590051821.x DOI 10.1046/j.1523-1755.2002.00552.x http://dx.doi.org/10.1046/j.1523-1755.2002.00552.x DOI 10.1073/pnas.92.21.9667 http://dx.doi.org/10.1073/pnas.92.21.9667 DOI 10.1074/jbc.271.28.16758 http://dx.doi.org/10.1074/jbc.271.28.16758 DOI 10.1086/498852 http://dx.doi.org/10.1086/498852 DOI 10.1091/mbc.10.12.4135 http://dx.doi.org/10.1091/mbc.10.12.4135 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1529-8817.2005.00185.x http://dx.doi.org/10.1111/j.1529-8817.2005.00185.x DOI 10.1136/jmg.2004.022244 http://dx.doi.org/10.1136/jmg.2004.022244 DOI 10.1172/JCI116415 http://dx.doi.org/10.1172/JCI116415 DrugBank DB00138 http://www.drugbank.ca/drugs/DB00138 EMBL AB033549 http://www.ebi.ac.uk/ena/data/view/AB033549 EMBL AC013717 http://www.ebi.ac.uk/ena/data/view/AC013717 EMBL AK223146 http://www.ebi.ac.uk/ena/data/view/AK223146 EMBL AK289636 http://www.ebi.ac.uk/ena/data/view/AK289636 EMBL BC022386 http://www.ebi.ac.uk/ena/data/view/BC022386 EMBL BC093624 http://www.ebi.ac.uk/ena/data/view/BC093624 EMBL BC093626 http://www.ebi.ac.uk/ena/data/view/BC093626 EMBL D82326 http://www.ebi.ac.uk/ena/data/view/D82326 EMBL DQ023512 http://www.ebi.ac.uk/ena/data/view/DQ023512 EMBL DQ023513 http://www.ebi.ac.uk/ena/data/view/DQ023513 EMBL DQ023514 http://www.ebi.ac.uk/ena/data/view/DQ023514 EMBL DQ023515 http://www.ebi.ac.uk/ena/data/view/DQ023515 EMBL DQ023516 http://www.ebi.ac.uk/ena/data/view/DQ023516 EMBL DQ023517 http://www.ebi.ac.uk/ena/data/view/DQ023517 EMBL L11696 http://www.ebi.ac.uk/ena/data/view/L11696 EMBL M95548 http://www.ebi.ac.uk/ena/data/view/M95548 EMBL U60810 http://www.ebi.ac.uk/ena/data/view/U60810 EMBL U60811 http://www.ebi.ac.uk/ena/data/view/U60811 EMBL U60812 http://www.ebi.ac.uk/ena/data/view/U60812 EMBL U60813 http://www.ebi.ac.uk/ena/data/view/U60813 EMBL U60814 http://www.ebi.ac.uk/ena/data/view/U60814 EMBL U60815 http://www.ebi.ac.uk/ena/data/view/U60815 EMBL U60816 http://www.ebi.ac.uk/ena/data/view/U60816 EMBL U60818 http://www.ebi.ac.uk/ena/data/view/U60818 EMBL U60819 http://www.ebi.ac.uk/ena/data/view/U60819 Ensembl ENST00000260649 http://www.ensembl.org/id/ENST00000260649 Ensembl ENST00000409229 http://www.ensembl.org/id/ENST00000409229 Ensembl ENST00000409380 http://www.ensembl.org/id/ENST00000409380 Ensembl ENST00000409740 http://www.ensembl.org/id/ENST00000409740 Ensembl ENST00000409741 http://www.ensembl.org/id/ENST00000409741 Ensembl ENST00000410056 http://www.ensembl.org/id/ENST00000410056 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0005774 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005774 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0031526 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031526 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0003824 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003824 GO_function GO:0015171 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015171 GO_function GO:0015174 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015174 GO_function GO:0015184 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015184 GO_process GO:0005975 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005975 GO_process GO:0006520 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006520 GO_process GO:0006865 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006865 GO_process GO:0015802 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015802 GO_process GO:0015811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015811 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0005975 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005975 GOslim_process GO:0006520 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006520 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 Gene3D 3.20.20.80 http://www.cathdb.info/version/latest/superfamily/3.20.20.80 GeneCards SLC3A1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC3A1 GeneID 6519 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6519 GeneTree ENSGT00860000133838 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00860000133838 HGNC HGNC:11025 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11025 HOGENOM HOG000220640 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000220640&db=HOGENOM6 HOVERGEN HBG053002 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG053002&db=HOVERGEN HPA HPA038360 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA038360 InParanoid Q07837 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q07837 InterPro IPR006047 http://www.ebi.ac.uk/interpro/entry/IPR006047 InterPro IPR013781 http://www.ebi.ac.uk/interpro/entry/IPR013781 InterPro IPR015902 http://www.ebi.ac.uk/interpro/entry/IPR015902 InterPro IPR017853 http://www.ebi.ac.uk/interpro/entry/IPR017853 Jabion 6519 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6519 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Disease H00901 http://www.genome.jp/dbget-bin/www_bget?H00901 KEGG_Gene hsa:6519 http://www.genome.jp/dbget-bin/www_bget?hsa:6519 KEGG_Orthology KO:K14210 http://www.genome.jp/dbget-bin/www_bget?KO:K14210 KEGG_Pathway ko04974 http://www.genome.jp/kegg-bin/show_pathway?ko04974 MIM 104614 http://www.ncbi.nlm.nih.gov/omim/104614 MIM 220100 http://www.ncbi.nlm.nih.gov/omim/220100 MIM 606407 http://www.ncbi.nlm.nih.gov/omim/606407 OMA EYATDPR http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=EYATDPR Orphanet 163690 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=163690 Orphanet 163693 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=163693 Orphanet 238523 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=238523 Orphanet 93612 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=93612 OrthoDB EOG091G03FE http://cegg.unige.ch/orthodb/results?searchtext=EOG091G03FE PANTHER PTHR10357 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10357 PSORT swissprot:SLC31_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SLC31_HUMAN PSORT-B swissprot:SLC31_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SLC31_HUMAN PSORT2 swissprot:SLC31_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SLC31_HUMAN Pfam PF00128 http://pfam.xfam.org/family/PF00128 PharmGKB PA35893 http://www.pharmgkb.org/do/serve?objId=PA35893&objCls=Gene Phobius swissprot:SLC31_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SLC31_HUMAN PhylomeDB Q07837 http://phylomedb.org/?seqid=Q07837 ProteinModelPortal Q07837 http://www.proteinmodelportal.org/query/uniprot/Q07837 PubMed 10588648 http://www.ncbi.nlm.nih.gov/pubmed/10588648 PubMed 10738006 http://www.ncbi.nlm.nih.gov/pubmed/10738006 PubMed 11318953 http://www.ncbi.nlm.nih.gov/pubmed/11318953 PubMed 11748844 http://www.ncbi.nlm.nih.gov/pubmed/11748844 PubMed 12167606 http://www.ncbi.nlm.nih.gov/pubmed/12167606 PubMed 12234283 http://www.ncbi.nlm.nih.gov/pubmed/12234283 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15635077 http://www.ncbi.nlm.nih.gov/pubmed/15635077 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 PubMed 15913950 http://www.ncbi.nlm.nih.gov/pubmed/15913950 PubMed 16138908 http://www.ncbi.nlm.nih.gov/pubmed/16138908 PubMed 16385448 http://www.ncbi.nlm.nih.gov/pubmed/16385448 PubMed 16609684 http://www.ncbi.nlm.nih.gov/pubmed/16609684 PubMed 19782624 http://www.ncbi.nlm.nih.gov/pubmed/19782624 PubMed 7539209 http://www.ncbi.nlm.nih.gov/pubmed/7539209 PubMed 7568194 http://www.ncbi.nlm.nih.gov/pubmed/7568194 PubMed 7573036 http://www.ncbi.nlm.nih.gov/pubmed/7573036 PubMed 7575432 http://www.ncbi.nlm.nih.gov/pubmed/7575432 PubMed 7686906 http://www.ncbi.nlm.nih.gov/pubmed/7686906 PubMed 8054986 http://www.ncbi.nlm.nih.gov/pubmed/8054986 PubMed 8486766 http://www.ncbi.nlm.nih.gov/pubmed/8486766 PubMed 8663184 http://www.ncbi.nlm.nih.gov/pubmed/8663184 PubMed 9186880 http://www.ncbi.nlm.nih.gov/pubmed/9186880 Reactome R-HSA-352230 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-352230 RefSeq NP_000332 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000332 SMART SM00642 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00642 STRING 9606.ENSP00000260649 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000260649&targetmode=cogs SUPFAM SSF51445 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF51445 TCDB 8.A.9.1 http://www.tcdb.org/search/result.php?tc=8.A.9.1 UCSC uc002rty http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002rty&org=rat UniGene Hs.112916 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.112916 UniProtKB SLC31_HUMAN http://www.uniprot.org/uniprot/SLC31_HUMAN UniProtKB-AC Q07837 http://www.uniprot.org/uniprot/Q07837 charge swissprot:SLC31_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SLC31_HUMAN eggNOG COG0366 http://eggnogapi.embl.de/nog_data/html/tree/COG0366 eggNOG KOG0471 http://eggnogapi.embl.de/nog_data/html/tree/KOG0471 epestfind swissprot:SLC31_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SLC31_HUMAN garnier swissprot:SLC31_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SLC31_HUMAN helixturnhelix swissprot:SLC31_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SLC31_HUMAN hmoment swissprot:SLC31_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SLC31_HUMAN iep swissprot:SLC31_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SLC31_HUMAN inforesidue swissprot:SLC31_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SLC31_HUMAN neXtProt NX_Q07837 http://www.nextprot.org/db/entry/NX_Q07837 octanol swissprot:SLC31_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SLC31_HUMAN pepcoil swissprot:SLC31_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SLC31_HUMAN pepdigest swissprot:SLC31_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SLC31_HUMAN pepinfo swissprot:SLC31_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SLC31_HUMAN pepnet swissprot:SLC31_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SLC31_HUMAN pepstats swissprot:SLC31_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SLC31_HUMAN pepwheel swissprot:SLC31_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SLC31_HUMAN pepwindow swissprot:SLC31_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SLC31_HUMAN sigcleave swissprot:SLC31_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SLC31_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS COG3_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96JB2-1; Sequence=Displayed; Name=2; IsoId=Q96JB2-2; Sequence=VSP_013652, VSP_013653; Note=No experimental confirmation available.; # AltName COG3_HUMAN Component of oligomeric Golgi complex 3 # AltName COG3_HUMAN Vesicle-docking protein SEC34 homolog # AltName COG3_HUMAN p94 # BioGrid 123680 37 # CCDS CCDS9398 -. [Q96JB2-1] # ChiTaRS COG3 human # Ensembl ENST00000349995 ENSP00000258654; ENSG00000136152. [Q96JB2-1] # Ensembl ENST00000617493 ENSP00000481332; ENSG00000136152. [Q96JB2-2] # ExpressionAtlas Q96JB2 baseline and differential # FUNCTION COG3_HUMAN Involved in ER-Golgi transport. {ECO 0000269|PubMed 11929878}. # GO_component GO:0000139 Golgi membrane; TAS:Reactome. # GO_component GO:0005654 nucleoplasm; IDA:HPA. # GO_component GO:0005737 cytoplasm; IDA:HPA. # GO_component GO:0005794 Golgi apparatus; IDA:UniProtKB. # GO_component GO:0005801 cis-Golgi network; IEA:InterPro. # GO_component GO:0005886 plasma membrane; IDA:HPA. # GO_component GO:0017119 Golgi transport complex; IDA:UniProtKB. # GO_component GO:0032580 Golgi cisterna membrane; IEA:UniProtKB-SubCell. # GO_component GO:0032588 trans-Golgi network membrane; TAS:Reactome. # GO_function GO:0008565 protein transporter activity; IDA:UniProtKB. # GO_process GO:0000301 retrograde transport, vesicle recycling within Golgi; IBA:GO_Central. # GO_process GO:0006486 protein glycosylation; IMP:UniProtKB. # GO_process GO:0006886 intracellular protein transport; IEA:InterPro. # GO_process GO:0006888 ER to Golgi vesicle-mediated transport; IDA:UniProtKB. # GO_process GO:0006890 retrograde vesicle-mediated transport, Golgi to ER; IMP:UniProtKB. # GO_process GO:0006891 intra-Golgi vesicle-mediated transport; IDA:UniProtKB. # GO_process GO:0007030 Golgi organization; IMP:UniProtKB. # GO_process GO:0033365 protein localization to organelle; IMP:UniProtKB. # GO_process GO:0050821 protein stabilization; IMP:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005654 nucleoplasm # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005794 Golgi apparatus # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0008565 protein transporter activity # GOslim_process GO:0006464 cellular protein modification process # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0016192 vesicle-mediated transport # Genevisible Q96JB2 HS # HGNC HGNC:18619 COG3 # IntAct Q96JB2 12 # InterPro IPR007265 COG_su3 # MIM 606975 gene # Organism COG3_HUMAN Homo sapiens (Human) # PANTHER PTHR13302 PTHR13302 # Pfam PF04136 Sec34 # Proteomes UP000005640 Chromosome 13 # Reactome R-HSA-6807878 COPI-mediated anterograde transport # Reactome R-HSA-6811438 Intra-Golgi traffic # Reactome R-HSA-6811440 Retrograde transport at the Trans-Golgi-Network # RecName COG3_HUMAN Conserved oligomeric Golgi complex subunit 3 # RefSeq NP_113619 NM_031431.3 # SIMILARITY Belongs to the COG3 family. {ECO 0000305}. # SUBCELLULAR LOCATION COG3_HUMAN Golgi apparatus, Golgi stack membrane {ECO 0000269|PubMed 11292827}; Peripheral membrane protein {ECO 0000269|PubMed 11292827}. Note=Associated with the peripheral membrane of cis/medial cisternae. # SUBUNIT Component of the conserved oligomeric Golgi complex which is composed of eight different subunits and is required for normal Golgi morphology and localization. Interacts with TMEM115. {ECO:0000250, ECO 0000269|PubMed:24806965}. # TISSUE SPECIFICITY Widely expressed with highest levels in pancreas and testis and lowest levels in lung. {ECO:0000269|PubMed 11292827}. # UCSC uc001vai human. [Q96JB2-1] # eggNOG ENOG410XNXH LUCA # eggNOG KOG2604 Eukaryota BLAST swissprot:COG3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:COG3_HUMAN BioCyc ZFISH:ENSG00000136152-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000136152-MONOMER COXPRESdb 83548 http://coxpresdb.jp/data/gene/83548.shtml CleanEx HS_COG3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_COG3 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1016/j.molcel.2008.07.007 http://dx.doi.org/10.1016/j.molcel.2008.07.007 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature02379 http://dx.doi.org/10.1038/nature02379 DOI 10.1038/nbt810 http://dx.doi.org/10.1038/nbt810 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.1210303109 http://dx.doi.org/10.1073/pnas.1210303109 DOI 10.1074/jbc.M011624200 http://dx.doi.org/10.1074/jbc.M011624200 DOI 10.1074/jbc.M202326200 http://dx.doi.org/10.1074/jbc.M202326200 DOI 10.1074/mcp.M111.015131 http://dx.doi.org/10.1074/mcp.M111.015131 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1133427 http://dx.doi.org/10.1126/science.1133427 DOI 10.1126/scisignal.2000007 http://dx.doi.org/10.1126/scisignal.2000007 DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DOI 10.1242/jcs.136754 http://dx.doi.org/10.1242/jcs.136754 EMBL AF332595 http://www.ebi.ac.uk/ena/data/view/AF332595 EMBL AF349676 http://www.ebi.ac.uk/ena/data/view/AF349676 EMBL AK314387 http://www.ebi.ac.uk/ena/data/view/AK314387 EMBL AL139326 http://www.ebi.ac.uk/ena/data/view/AL139326 EMBL AL606514 http://www.ebi.ac.uk/ena/data/view/AL606514 EMBL BC038953 http://www.ebi.ac.uk/ena/data/view/BC038953 Ensembl ENST00000349995 http://www.ensembl.org/id/ENST00000349995 Ensembl ENST00000617493 http://www.ensembl.org/id/ENST00000617493 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000139 GO_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GO_component GO:0005801 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005801 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0017119 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0017119 GO_component GO:0032580 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032580 GO_component GO:0032588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032588 GO_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GO_process GO:0000301 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000301 GO_process GO:0006486 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006486 GO_process GO:0006886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006886 GO_process GO:0006888 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006888 GO_process GO:0006890 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006890 GO_process GO:0006891 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006891 GO_process GO:0007030 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007030 GO_process GO:0033365 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033365 GO_process GO:0050821 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050821 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_process GO:0006464 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006464 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0016192 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016192 GeneCards COG3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=COG3 GeneID 83548 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=83548 GeneTree ENSGT00390000015682 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000015682 H-InvDB HIX0011290 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0011290 HGNC HGNC:18619 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:18619 HOGENOM HOG000264596 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000264596&db=HOGENOM6 HOVERGEN HBG051062 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG051062&db=HOVERGEN HPA HPA040353 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA040353 InParanoid Q96JB2 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q96JB2 IntAct Q96JB2 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q96JB2* InterPro IPR007265 http://www.ebi.ac.uk/interpro/entry/IPR007265 Jabion 83548 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=83548 KEGG_Gene hsa:83548 http://www.genome.jp/dbget-bin/www_bget?hsa:83548 MIM 606975 http://www.ncbi.nlm.nih.gov/omim/606975 MINT MINT-3054332 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-3054332 OMA KIPEYQQ http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=KIPEYQQ OrthoDB EOG091G03O0 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G03O0 PANTHER PTHR13302 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR13302 PSORT swissprot:COG3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:COG3_HUMAN PSORT-B swissprot:COG3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:COG3_HUMAN PSORT2 swissprot:COG3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:COG3_HUMAN Pfam PF04136 http://pfam.xfam.org/family/PF04136 PharmGKB PA38602 http://www.pharmgkb.org/do/serve?objId=PA38602&objCls=Gene Phobius swissprot:COG3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:COG3_HUMAN PhylomeDB Q96JB2 http://phylomedb.org/?seqid=Q96JB2 ProteinModelPortal Q96JB2 http://www.proteinmodelportal.org/query/uniprot/Q96JB2 PubMed 11292827 http://www.ncbi.nlm.nih.gov/pubmed/11292827 PubMed 11929878 http://www.ncbi.nlm.nih.gov/pubmed/11929878 PubMed 12665801 http://www.ncbi.nlm.nih.gov/pubmed/12665801 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15057823 http://www.ncbi.nlm.nih.gov/pubmed/15057823 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16959974 http://www.ncbi.nlm.nih.gov/pubmed/16959974 PubMed 18691976 http://www.ncbi.nlm.nih.gov/pubmed/18691976 PubMed 19690332 http://www.ncbi.nlm.nih.gov/pubmed/19690332 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 22223895 http://www.ncbi.nlm.nih.gov/pubmed/22223895 PubMed 22814378 http://www.ncbi.nlm.nih.gov/pubmed/22814378 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 24806965 http://www.ncbi.nlm.nih.gov/pubmed/24806965 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 Reactome R-HSA-6807878 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6807878 Reactome R-HSA-6811438 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6811438 Reactome R-HSA-6811440 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6811440 RefSeq NP_113619 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_113619 SMR Q96JB2 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q96JB2 STRING 9606.ENSP00000258654 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000258654&targetmode=cogs UCSC uc001vai http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001vai&org=rat UniGene Hs.507948 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.507948 UniProtKB COG3_HUMAN http://www.uniprot.org/uniprot/COG3_HUMAN UniProtKB-AC Q96JB2 http://www.uniprot.org/uniprot/Q96JB2 charge swissprot:COG3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:COG3_HUMAN eggNOG ENOG410XNXH http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XNXH eggNOG KOG2604 http://eggnogapi.embl.de/nog_data/html/tree/KOG2604 epestfind swissprot:COG3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:COG3_HUMAN garnier swissprot:COG3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:COG3_HUMAN helixturnhelix swissprot:COG3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:COG3_HUMAN hmoment swissprot:COG3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:COG3_HUMAN iep swissprot:COG3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:COG3_HUMAN inforesidue swissprot:COG3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:COG3_HUMAN neXtProt NX_Q96JB2 http://www.nextprot.org/db/entry/NX_Q96JB2 octanol swissprot:COG3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:COG3_HUMAN pepcoil swissprot:COG3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:COG3_HUMAN pepdigest swissprot:COG3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:COG3_HUMAN pepinfo swissprot:COG3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:COG3_HUMAN pepnet swissprot:COG3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:COG3_HUMAN pepstats swissprot:COG3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:COG3_HUMAN pepwheel swissprot:COG3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:COG3_HUMAN pepwindow swissprot:COG3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:COG3_HUMAN sigcleave swissprot:COG3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:COG3_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS ACHA7_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=P36544-1; Sequence=Displayed; Name=2; IsoId=P36544-2; Sequence=VSP_043019; Note=No experimental confirmation available.; Name=3; IsoId=P36544-3; Sequence=VSP_058107, VSP_058108; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; # BioGrid 107561 3 # CCDS CCDS10027 -. [P36544-1] # CCDS CCDS53924 -. [P36544-2] # ChiTaRS CHRNA7 human # DrugBank DB00184 Nicotine # DrugBank DB00237 Butabarbital # DrugBank DB00241 Butalbital # DrugBank DB00306 Talbutal # DrugBank DB00312 Pentobarbital # DrugBank DB00418 Secobarbital # DrugBank DB00514 Dextromethorphan # DrugBank DB00599 Thiopental # DrugBank DB00674 Galantamine # DrugBank DB00794 Primidone # DrugBank DB00849 Methylphenobarbital # DrugBank DB00898 Ethanol # DrugBank DB01174 Phenobarbital # DrugBank DB01273 Varenicline # DrugBank DB01351 Amobarbital # DrugBank DB01352 Aprobarbital # DrugBank DB01353 Butethal # DrugBank DB01354 Heptabarbital # DrugBank DB01355 Hexobarbital # DrugBank DB09028 Cytisine # Ensembl ENST00000306901 ENSP00000303727; ENSG00000175344. [P36544-1] # Ensembl ENST00000437966 ENSP00000399087; ENSG00000175344. [P36544-3] # Ensembl ENST00000454250 ENSP00000407546; ENSG00000175344. [P36544-2] # ExpressionAtlas P36544 baseline and differential # FUNCTION ACHA7_HUMAN After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. The channel is blocked by alpha-bungarotoxin. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0005892 acetylcholine-gated channel complex; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; NAS:UniProtKB. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0045211 postsynaptic membrane; IEA:UniProtKB-SubCell. # GO_function GO:0001540 beta-amyloid binding; IPI:UniProtKB. # GO_function GO:0004889 acetylcholine-activated cation-selective channel activity; IDA:UniProtKB. # GO_function GO:0015276 ligand-gated ion channel activity; TAS:Reactome. # GO_function GO:0015464 acetylcholine receptor activity; IDA:UniProtKB. # GO_function GO:0015643 toxic substance binding; IDA:UniProtKB. # GO_function GO:0017081 chloride channel regulator activity; IDA:UniProtKB. # GO_function GO:0022848 acetylcholine-gated cation channel activity; IDA:ParkinsonsUK-UCL. # GO_function GO:0042166 acetylcholine binding; IDA:UniProtKB. # GO_function GO:0042803 protein homodimerization activity; IDA:UniProtKB. # GO_process GO:0000187 activation of MAPK activity; IDA:UniProtKB. # GO_process GO:0001666 response to hypoxia; IDA:UniProtKB. # GO_process GO:0006811 ion transport; NAS:UniProtKB. # GO_process GO:0006816 calcium ion transport; IDA:UniProtKB. # GO_process GO:0006874 cellular calcium ion homeostasis; IMP:UniProtKB. # GO_process GO:0007165 signal transduction; IDA:UniProtKB. # GO_process GO:0007271 synaptic transmission, cholinergic; IBA:GO_Central. # GO_process GO:0007613 memory; NAS:UniProtKB. # GO_process GO:0008284 positive regulation of cell proliferation; IMP:UniProtKB. # GO_process GO:0032720 negative regulation of tumor necrosis factor production; IMP:UniProtKB. # GO_process GO:0034220 ion transmembrane transport; IDA:ParkinsonsUK-UCL. # GO_process GO:0035094 response to nicotine; IDA:UniProtKB. # GO_process GO:0045766 positive regulation of angiogenesis; IMP:UniProtKB. # GO_process GO:0050890 cognition; IMP:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0050877 neurological system process # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.20.120.370 -; 2. # Gene3D 2.70.170.10 -; 1. # Genevisible P36544 HS # HGNC HGNC:1960 CHRNA7 # IntAct P36544 2 # InterPro IPR002394 Nicotinic_acetylcholine_rcpt # InterPro IPR006029 Neurotrans-gated_channel_TM # InterPro IPR006201 Neur_channel # InterPro IPR006202 Neur_chan_lig-bd # InterPro IPR018000 Neurotransmitter_ion_chnl_CS # InterPro IPR027361 Acetylcholine_rcpt_TM # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04020 Calcium signaling pathway # KEGG_Pathway ko04080 Neuroactive ligand-receptor interaction # KEGG_Pathway ko04725 Cholinergic synapse # KEGG_Pathway ko05033 Nicotine addiction # KEGG_Pathway ko05204 Chemical carcinogenesis # MASS SPECTROMETRY Mass=54157.68; Method=MALDI; Range=23-502; Evidence={ECO:0000269|PubMed 11840567}; # MIM 118511 gene # Organism ACHA7_HUMAN Homo sapiens (Human) # Orphanet 199318 15q13.3 microdeletion syndrome # PANTHER PTHR18945 PTHR18945; 3 # PDB 2MAW NMR; -; A=228-326, A=467-495 # PDB 5AFH X-ray; 2.40 A; A/B/C/D/E=23-227 # PDB 5AFJ X-ray; 2.20 A; A/B/C/D/E=23-227 # PDB 5AFK X-ray; 2.38 A; A/B/C/D/E=23-227 # PDB 5AFL X-ray; 2.38 A; A/B/C/D/E=23-227 # PDB 5AFM X-ray; 2.85 A; A/B/C/D/E=23-38, A/B/C/D/E=52-71, A/B/C/D/E=77-98, A/C/D/E=23-192, A/C/D/E=96-227, B=131-141, B=164-168, B=178-192 # PDB 5AFN X-ray; 2.15 A; A/B/C/D/E=23-227 # PIR G02259 G02259 # PIR I37185 ACHUA7 # PRINTS PR00252 NRIONCHANNEL # PRINTS PR00254 NICOTINICR # PROSITE PS00236 NEUROTR_ION_CHANNEL # Pfam PF02931 Neur_chan_LBD # Pfam PF02932 Neur_chan_memb # Proteomes UP000005640 Chromosome 15 # Reactome R-HSA-629594 Highly calcium permeable postsynaptic nicotinic acetylcholine receptors # RecName ACHA7_HUMAN Neuronal acetylcholine receptor subunit alpha-7 # RefSeq NP_000737 NM_000746.5. [P36544-1] # RefSeq NP_001177384 NM_001190455.2. [P36544-2] # RefSeq NP_683709 NM_148911.1 # RefSeq XP_005254807 XM_005254750.2 # RefSeq XP_016877373 XM_017021884.1 # SEQUENCE CAUTION Sequence=AAH37571.1; Type=Erroneous translation; Note=Wrong choice of frame.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Alpha- 7/CHRNA7 sub-subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION ACHA7_HUMAN Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. # SUBUNIT ACHA7_HUMAN Homopentamer. Interacts with RIC3; which is required for proper folding and assembly. {ECO 0000269|PubMed 15504725, ECO 0000269|PubMed 16120769}. # SUPFAM SSF63712 SSF63712 # SUPFAM SSF90112 SSF90112 # TCDB 1.A.9.1 the neurotransmitter receptor, cys loop, ligand-gated ion channel (lic) family # TIGRFAMs TIGR00860 LIC # UCSC uc001zft human. [P36544-1] # eggNOG ENOG410XQGR LUCA # eggNOG KOG3645 Eukaryota BLAST swissprot:ACHA7_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ACHA7_HUMAN BioCyc ZFISH:ENSG00000175344-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000175344-MONOMER COXPRESdb 1139 http://coxpresdb.jp/data/gene/1139.shtml COXPRESdb 89832 http://coxpresdb.jp/data/gene/89832.shtml CleanEx HS_CHRNA7 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CHRNA7 DOI 10.1002/1615-9861(200202)2:2<212::AID-PROT212>3.0.CO http://dx.doi.org/10.1002/1615-9861(200202)2:2<212::AID-PROT212>3.0.CO DOI 10.1006/geno.1994.1075 http://dx.doi.org/10.1006/geno.1994.1075 DOI 10.1006/geno.2002.6694 http://dx.doi.org/10.1006/geno.2002.6694 DOI 10.1007/BF02736842 http://dx.doi.org/10.1007/BF02736842 DOI 10.1016/S0014-5793(96)01383-X http://dx.doi.org/10.1016/S0014-5793(96)01383-X DOI 10.1038/nature04601 http://dx.doi.org/10.1038/nature04601 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.M410039200 http://dx.doi.org/10.1074/jbc.M410039200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1124/mol.105.017459 http://dx.doi.org/10.1124/mol.105.017459 DrugBank DB00184 http://www.drugbank.ca/drugs/DB00184 DrugBank DB00237 http://www.drugbank.ca/drugs/DB00237 DrugBank DB00241 http://www.drugbank.ca/drugs/DB00241 DrugBank DB00306 http://www.drugbank.ca/drugs/DB00306 DrugBank DB00312 http://www.drugbank.ca/drugs/DB00312 DrugBank DB00418 http://www.drugbank.ca/drugs/DB00418 DrugBank DB00514 http://www.drugbank.ca/drugs/DB00514 DrugBank DB00599 http://www.drugbank.ca/drugs/DB00599 DrugBank DB00674 http://www.drugbank.ca/drugs/DB00674 DrugBank DB00794 http://www.drugbank.ca/drugs/DB00794 DrugBank DB00849 http://www.drugbank.ca/drugs/DB00849 DrugBank DB00898 http://www.drugbank.ca/drugs/DB00898 DrugBank DB01174 http://www.drugbank.ca/drugs/DB01174 DrugBank DB01273 http://www.drugbank.ca/drugs/DB01273 DrugBank DB01351 http://www.drugbank.ca/drugs/DB01351 DrugBank DB01352 http://www.drugbank.ca/drugs/DB01352 DrugBank DB01353 http://www.drugbank.ca/drugs/DB01353 DrugBank DB01354 http://www.drugbank.ca/drugs/DB01354 DrugBank DB01355 http://www.drugbank.ca/drugs/DB01355 DrugBank DB09028 http://www.drugbank.ca/drugs/DB09028 EMBL AC004460 http://www.ebi.ac.uk/ena/data/view/AC004460 EMBL AC009562 http://www.ebi.ac.uk/ena/data/view/AC009562 EMBL AC012236 http://www.ebi.ac.uk/ena/data/view/AC012236 EMBL AC021316 http://www.ebi.ac.uk/ena/data/view/AC021316 EMBL AC026150 http://www.ebi.ac.uk/ena/data/view/AC026150 EMBL AC026951 http://www.ebi.ac.uk/ena/data/view/AC026951 EMBL AC058803 http://www.ebi.ac.uk/ena/data/view/AC058803 EMBL AC068448 http://www.ebi.ac.uk/ena/data/view/AC068448 EMBL AC079969 http://www.ebi.ac.uk/ena/data/view/AC079969 EMBL AC087481 http://www.ebi.ac.uk/ena/data/view/AC087481 EMBL AC090829 http://www.ebi.ac.uk/ena/data/view/AC090829 EMBL AC091057 http://www.ebi.ac.uk/ena/data/view/AC091057 EMBL AC104266 http://www.ebi.ac.uk/ena/data/view/AC104266 EMBL AC104759 http://www.ebi.ac.uk/ena/data/view/AC104759 EMBL AF332758 http://www.ebi.ac.uk/ena/data/view/AF332758 EMBL AF385585 http://www.ebi.ac.uk/ena/data/view/AF385585 EMBL AK292069 http://www.ebi.ac.uk/ena/data/view/AK292069 EMBL AK294229 http://www.ebi.ac.uk/ena/data/view/AK294229 EMBL BC037571 http://www.ebi.ac.uk/ena/data/view/BC037571 EMBL BC101345 http://www.ebi.ac.uk/ena/data/view/BC101345 EMBL L25827 http://www.ebi.ac.uk/ena/data/view/L25827 EMBL U40583 http://www.ebi.ac.uk/ena/data/view/U40583 EMBL U62436 http://www.ebi.ac.uk/ena/data/view/U62436 EMBL X70297 http://www.ebi.ac.uk/ena/data/view/X70297 EMBL Y08420 http://www.ebi.ac.uk/ena/data/view/Y08420 EMBL Z23141 http://www.ebi.ac.uk/ena/data/view/Z23141 Ensembl ENST00000306901 http://www.ensembl.org/id/ENST00000306901 Ensembl ENST00000437966 http://www.ensembl.org/id/ENST00000437966 Ensembl ENST00000454250 http://www.ensembl.org/id/ENST00000454250 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005892 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005892 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0045211 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045211 GO_function GO:0001540 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001540 GO_function GO:0004889 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004889 GO_function GO:0015276 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015276 GO_function GO:0015464 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015464 GO_function GO:0015643 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015643 GO_function GO:0017081 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0017081 GO_function GO:0022848 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022848 GO_function GO:0042166 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042166 GO_function GO:0042803 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042803 GO_process GO:0000187 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000187 GO_process GO:0001666 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001666 GO_process GO:0006811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006811 GO_process GO:0006816 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006816 GO_process GO:0006874 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006874 GO_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GO_process GO:0007271 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007271 GO_process GO:0007613 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007613 GO_process GO:0008284 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008284 GO_process GO:0032720 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032720 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0035094 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035094 GO_process GO:0045766 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045766 GO_process GO:0050890 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050890 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.20.120.370 http://www.cathdb.info/version/latest/superfamily/1.20.120.370 Gene3D 2.70.170.10 http://www.cathdb.info/version/latest/superfamily/2.70.170.10 GeneCards CHRNA7 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CHRNA7 GeneID 1139 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=1139 GeneID 89832 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=89832 GeneTree ENSGT00790000122957 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00790000122957 HGNC HGNC:1960 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:1960 HOGENOM HOG000006756 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000006756&db=HOGENOM6 HOVERGEN HBG003756 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG003756&db=HOVERGEN HPA CAB033624 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB033624 HPA HPA029422 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA029422 InParanoid P36544 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P36544 IntAct P36544 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P36544* InterPro IPR002394 http://www.ebi.ac.uk/interpro/entry/IPR002394 InterPro IPR006029 http://www.ebi.ac.uk/interpro/entry/IPR006029 InterPro IPR006201 http://www.ebi.ac.uk/interpro/entry/IPR006201 InterPro IPR006202 http://www.ebi.ac.uk/interpro/entry/IPR006202 InterPro IPR018000 http://www.ebi.ac.uk/interpro/entry/IPR018000 InterPro IPR027361 http://www.ebi.ac.uk/interpro/entry/IPR027361 Jabion 1139 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=1139 Jabion 89832 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=89832 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:1139 http://www.genome.jp/dbget-bin/www_bget?hsa:1139 KEGG_Orthology KO:K04809 http://www.genome.jp/dbget-bin/www_bget?KO:K04809 KEGG_Pathway ko04020 http://www.genome.jp/kegg-bin/show_pathway?ko04020 KEGG_Pathway ko04080 http://www.genome.jp/kegg-bin/show_pathway?ko04080 KEGG_Pathway ko04725 http://www.genome.jp/kegg-bin/show_pathway?ko04725 KEGG_Pathway ko05033 http://www.genome.jp/kegg-bin/show_pathway?ko05033 KEGG_Pathway ko05204 http://www.genome.jp/kegg-bin/show_pathway?ko05204 MIM 118511 http://www.ncbi.nlm.nih.gov/omim/118511 OMA FPQPHSL http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=FPQPHSL Orphanet 199318 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=199318 OrthoDB EOG091G0R20 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0R20 PANTHER PTHR18945 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR18945 PDB 2MAW http://www.ebi.ac.uk/pdbe-srv/view/entry/2MAW PDB 5AFH http://www.ebi.ac.uk/pdbe-srv/view/entry/5AFH PDB 5AFJ http://www.ebi.ac.uk/pdbe-srv/view/entry/5AFJ PDB 5AFK http://www.ebi.ac.uk/pdbe-srv/view/entry/5AFK PDB 5AFL http://www.ebi.ac.uk/pdbe-srv/view/entry/5AFL PDB 5AFM http://www.ebi.ac.uk/pdbe-srv/view/entry/5AFM PDB 5AFN http://www.ebi.ac.uk/pdbe-srv/view/entry/5AFN PDBsum 2MAW http://www.ebi.ac.uk/pdbsum/2MAW PDBsum 5AFH http://www.ebi.ac.uk/pdbsum/5AFH PDBsum 5AFJ http://www.ebi.ac.uk/pdbsum/5AFJ PDBsum 5AFK http://www.ebi.ac.uk/pdbsum/5AFK PDBsum 5AFL http://www.ebi.ac.uk/pdbsum/5AFL PDBsum 5AFM http://www.ebi.ac.uk/pdbsum/5AFM PDBsum 5AFN http://www.ebi.ac.uk/pdbsum/5AFN PRINTS PR00252 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00252 PRINTS PR00254 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00254 PROSITE PS00236 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00236 PSORT swissprot:ACHA7_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ACHA7_HUMAN PSORT-B swissprot:ACHA7_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ACHA7_HUMAN PSORT2 swissprot:ACHA7_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ACHA7_HUMAN Pfam PF02931 http://pfam.xfam.org/family/PF02931 Pfam PF02932 http://pfam.xfam.org/family/PF02932 PharmGKB PA114 http://www.pharmgkb.org/do/serve?objId=PA114&objCls=Gene PharmGKB PA26483 http://www.pharmgkb.org/do/serve?objId=PA26483&objCls=Gene Phobius swissprot:ACHA7_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ACHA7_HUMAN PhylomeDB P36544 http://phylomedb.org/?seqid=P36544 ProteinModelPortal P36544 http://www.proteinmodelportal.org/query/uniprot/P36544 PubMed 11829490 http://www.ncbi.nlm.nih.gov/pubmed/11829490 PubMed 11840567 http://www.ncbi.nlm.nih.gov/pubmed/11840567 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15504725 http://www.ncbi.nlm.nih.gov/pubmed/15504725 PubMed 16120769 http://www.ncbi.nlm.nih.gov/pubmed/16120769 PubMed 16572171 http://www.ncbi.nlm.nih.gov/pubmed/16572171 PubMed 8145738 http://www.ncbi.nlm.nih.gov/pubmed/8145738 PubMed 8188270 http://www.ncbi.nlm.nih.gov/pubmed/8188270 PubMed 8906617 http://www.ncbi.nlm.nih.gov/pubmed/8906617 PubMed 9009220 http://www.ncbi.nlm.nih.gov/pubmed/9009220 Reactome R-HSA-629594 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-629594 RefSeq NP_000737 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000737 RefSeq NP_001177384 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001177384 RefSeq NP_683709 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_683709 RefSeq XP_005254807 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005254807 RefSeq XP_016877373 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016877373 SMR P36544 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P36544 STRING 9606.ENSP00000299847 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000299847&targetmode=cogs SUPFAM SSF63712 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF63712 SUPFAM SSF90112 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF90112 TCDB 1.A.9.1 http://www.tcdb.org/search/result.php?tc=1.A.9.1 TIGRFAMs TIGR00860 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00860 UCSC uc001zft http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001zft&org=rat UniGene Hs.510853 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.510853 UniGene Hs.511772 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.511772 UniGene Hs.713151 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.713151 UniProtKB ACHA7_HUMAN http://www.uniprot.org/uniprot/ACHA7_HUMAN UniProtKB-AC P36544 http://www.uniprot.org/uniprot/P36544 charge swissprot:ACHA7_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ACHA7_HUMAN eggNOG ENOG410XQGR http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XQGR eggNOG KOG3645 http://eggnogapi.embl.de/nog_data/html/tree/KOG3645 epestfind swissprot:ACHA7_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ACHA7_HUMAN garnier swissprot:ACHA7_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ACHA7_HUMAN helixturnhelix swissprot:ACHA7_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ACHA7_HUMAN hmoment swissprot:ACHA7_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ACHA7_HUMAN iep swissprot:ACHA7_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ACHA7_HUMAN inforesidue swissprot:ACHA7_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ACHA7_HUMAN neXtProt NX_P36544 http://www.nextprot.org/db/entry/NX_P36544 octanol swissprot:ACHA7_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ACHA7_HUMAN pepcoil swissprot:ACHA7_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ACHA7_HUMAN pepdigest swissprot:ACHA7_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ACHA7_HUMAN pepinfo swissprot:ACHA7_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ACHA7_HUMAN pepnet swissprot:ACHA7_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ACHA7_HUMAN pepstats swissprot:ACHA7_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ACHA7_HUMAN pepwheel swissprot:ACHA7_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ACHA7_HUMAN pepwindow swissprot:ACHA7_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ACHA7_HUMAN sigcleave swissprot:ACHA7_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ACHA7_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS TRPM2_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; Synonyms=TRPM2-L; IsoId=O94759-1; Sequence=Displayed; Name=2; IsoId=O94759-2; Sequence=VSP_006574, VSP_006575; Name=3; Synonyms=TRPM2-S; IsoId=O94759-3; Sequence=VSP_013018; # AltName Estrogen-responsive element-associated gene 1 protein {ECO 0000303|Ref.9} # AltName Long transient receptor potential channel 2 {ECO:0000303|PubMed 11960981} # AltName Transient receptor potential channel 7 {ECO:0000303|PubMed 9806837} # AltName Transient receptor potential melastatin 2 {ECO:0000303|PubMed 27383051} # CAUTION TRPM2_HUMAN The isolated nudix hydrolase domain was shown to have low catalytic activity with ADP-ribose upon heterologous expression (PubMed 11385575). However, a more recent publication demonstrates that the nudix hydrolase domain lacks enzyme activity and suggests that spontaneous degradation of the substrate underlies the previously reported low activity (PubMed 27383051). {ECO 0000269|PubMed 11385575, ECO 0000269|PubMed 27383051}. # CCDS CCDS13710 -. [O94759-1] # DOMAIN TRPM2_HUMAN The cytosolic nudix box binds ADP-ribose and is required for channel activation by ADP-ribose (PubMed 15561722, PubMed 16601673). {ECO 0000269|PubMed 15561722, ECO 0000269|PubMed 16601673}. # ENZYME REGULATION TRPM2_HUMAN Inactivated by exposure to extracellular pH between 4.0 and 6.5; irreversibly inactivated when open channels are exposed to extracellular pH between 4.0 and 6.5, while pre- exposure of closed channels to extracellular pH 5.5 gives rise to currents that rapidly inactivate, but protects against irreversible inactivation (PubMed 20660597). Inactivated by intracellular ATP (PubMed 11509734). Activated by arachidonic acid (PubMed 11804595). {ECO 0000269|PubMed 11509734, ECO 0000269|PubMed 11804595, ECO 0000269|PubMed 20660597}. # Ensembl ENST00000300481 ENSP00000300481; ENSG00000142185. [O94759-2] # Ensembl ENST00000300482 ENSP00000300482; ENSG00000142185. [O94759-1] # Ensembl ENST00000397928 ENSP00000381023; ENSG00000142185. [O94759-1] # ExpressionAtlas O94759 baseline and differential # FUNCTION TRPM2_HUMAN Isoform 1 Nonselective, voltage-independent cation channel that mediates Na(+) and Ca(2+) influx, leading to increased cytoplasmic Ca(2+) levels (PubMed 11960981, PubMed 12594222, PubMed 11385575, PubMed 11509734, PubMed 11804595, PubMed 15561722, PubMed 16601673, PubMed 19171771, PubMed 20660597, PubMed 27383051, PubMed 27068538). Extracellular calcium passes through the channel and increases channel activity by binding to the cytoplasmic domain and stabilizing the channel in an open conformation (PubMed 19171771). Also contributes to Ca(2+) release from intracellular stores in response to ADP-ribose (PubMed 19454650). Plays a role in numerous processes that involve signaling via intracellular Ca(2+) levels (Probable). Besides, mediates the release of lysosomal Zn(2+) stores in response to reactive oxygen species, leading to increased cytosolic Zn(2+) levels (PubMed 25562606, PubMed 27068538). Activated by moderate heat (35 to 40 degrees Celsius) (PubMed 16601673). Activated by intracellular ADP-ribose, beta-NAD (NAD(+)) and similar compounds, and by oxidative stress caused by reactive oxygen or nitrogen species (PubMed 11960981, PubMed 11385575, PubMed 11509734, PubMed 11804595, PubMed 15561722, PubMed 16601673, PubMed 19171771, PubMed 27383051, PubMed 27068538). The precise physiological activators are under debate; the true, physiological activators may be ADP-ribose and ADP-ribose-2'-phosphate (PubMed 20650899, PubMed 25918360). Activation by ADP-ribose and beta-NAD is strongly increased by moderate heat (35 to 40 degrees Celsius) (PubMed 16601673). Likewise, reactive oxygen species lower the threshold for activation by moderate heat (37 degrees Celsius) (PubMed 22493272). Plays a role in mediating behavorial and physiological responses to moderate heat and thereby contributes to body temperature homeostasis. Plays a role in insulin secretion, a process that requires increased cytoplasmic Ca(2+) levels (By similarity). Required for normal IFNG and cytokine secretion and normal innate immune immunity in response to bacterial infection. Required for normal phagocytosis and cytokine release by macrophages exposed to zymosan (in vitro). Plays a role in dendritic cell differentiation and maturation, and in dendritic cell chemotaxis via its role in regulating cytoplasmic Ca(2+) levels (By similarity). Plays a role in the regulation of the reorganization of the actin cytoskeleton and filopodia formation in response to reactive oxygen species via its role in increasing cytoplasmic Ca(2+) and Zn(2+) levels (PubMed 27068538). Confers susceptibility to cell death following oxidative stress (PubMed 12594222, PubMed 25562606). {ECO 0000250|UniProtKB Q91YD4, ECO 0000269|PubMed 11385575, ECO 0000269|PubMed 11509734, ECO 0000269|PubMed 11804595, ECO 0000269|PubMed 11960981, ECO 0000269|PubMed 12594222, ECO 0000269|PubMed 15561722, ECO 0000269|PubMed 16601673, ECO 0000269|PubMed 19171771, ECO 0000269|PubMed 19454650, ECO 0000269|PubMed 20650899, ECO 0000269|PubMed 20660597, ECO 0000269|PubMed 22493272, ECO 0000269|PubMed 25562606, ECO 0000269|PubMed 25918360, ECO 0000269|PubMed 27068538, ECO 0000269|PubMed 27383051, ECO 0000305}. # FUNCTION TRPM2_HUMAN Isoform 2 Lacks cation channel activity. Does not mediate cation transport in response to oxidative stress or ADP- ribose. {ECO 0000269|PubMed 11960981}. # FUNCTION TRPM2_HUMAN Isoform 3 Lacks cation channel activity and negatively regulates the channel activity of isoform 1. Negatively regulates susceptibility to cell death in reposponse to oxidative stress. {ECO 0000269|PubMed 12594222}. # GO_component GO:0005764 lysosome; IDA:UniProtKB. # GO_component GO:0005765 lysosomal membrane; ISS:UniProtKB. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IMP:UniProtKB. # GO_component GO:0030659 cytoplasmic vesicle membrane; ISS:UniProtKB. # GO_component GO:0043005 neuron projection; IEA:Ensembl. # GO_component GO:0043204 perikaryon; IEA:UniProtKB-SubCell. # GO_function GO:0005261 cation channel activity; IMP:UniProtKB. # GO_function GO:0005262 calcium channel activity; TAS:Reactome. # GO_function GO:0005272 sodium channel activity; IEA:UniProtKB-KW. # GO_function GO:0005509 calcium ion binding; IMP:UniProtKB. # GO_function GO:0015278 calcium-release channel activity; IMP:UniProtKB. # GO_function GO:0099604 ligand-gated calcium channel activity; IDA:UniProtKB. # GO_process GO:0001659 temperature homeostasis; ISS:UniProtKB. # GO_process GO:0002407 dendritic cell chemotaxis; ISS:UniProtKB. # GO_process GO:0006816 calcium ion transport; TAS:ProtInc. # GO_process GO:0014074 response to purine-containing compound; IMP:UniProtKB. # GO_process GO:0032024 positive regulation of insulin secretion; IEA:Ensembl. # GO_process GO:0035584 calcium-mediated signaling using intracellular calcium source; ISS:UniProtKB. # GO_process GO:0044849 estrous cycle; IEA:Ensembl. # GO_process GO:0051209 release of sequestered calcium ion into cytosol; IMP:UniProtKB. # GO_process GO:0051489 regulation of filopodium assembly; IMP:UniProtKB. # GO_process GO:0070301 cellular response to hydrogen peroxide; IDA:UniProtKB. # GO_process GO:0070588 calcium ion transmembrane transport; TAS:Reactome. # GO_process GO:0071277 cellular response to calcium ion; IMP:UniProtKB. # GO_process GO:0071415 cellular response to purine-containing compound; ISS:UniProtKB. # GO_process GO:0071502 cellular response to temperature stimulus; ISS:UniProtKB. # GO_process GO:0071577 zinc II ion transmembrane transport; IMP:UniProtKB. # GO_process GO:0097028 dendritic cell differentiation; ISS:UniProtKB. # GO_process GO:0097553 calcium ion transmembrane import into cytosol; IMP:UniProtKB. # GO_process GO:0098703 calcium ion import across plasma membrane; ISS:UniProtKB. # GO_process GO:1903223 positive regulation of oxidative stress-induced neuron death; IEA:Ensembl. # GO_process GO:2000249 regulation of actin cytoskeleton reorganization; IMP:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005764 lysosome # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0002376 immune system process # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0030154 cell differentiation # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0048870 cell motility # GOslim_process GO:0055085 transmembrane transport # Gene3D 3.90.79.10 -; 1. # Genevisible O94759 HS # HGNC HGNC:12339 TRPM2 # InterPro IPR000086 NUDIX_hydrolase_dom # InterPro IPR005821 Ion_trans_dom # InterPro IPR015797 NUDIX_hydrolase_dom-like # InterPro IPR029594 TRPM2 # KEGG_Brite ko04040 Ion channels # MIM 603749 gene # Organism TRPM2_HUMAN Homo sapiens (Human) # PANTHER PTHR13800:SF2 PTHR13800:SF2 # PROSITE PS51462 NUDIX # Pfam PF00520 Ion_trans # Proteomes UP000005640 Chromosome 21 # Reactome R-HSA-3295583 TRP channels # Reactome R-HSA-6798695 Neutrophil degranulation # RecName TRPM2_HUMAN Transient receptor potential cation channel subfamily M member 2 # RefSeq NP_001307279 NM_001320350.1 # RefSeq NP_001307280 NM_001320351.1 # RefSeq NP_003298 NM_003307.3 # RefSeq XP_005261228 XM_005261171.3. [O94759-1] # SEQUENCE CAUTION Sequence=BAB64300.1; Type=Frameshift; Positions=1227, 1237; Evidence={ECO 0000305}; # SIMILARITY Belongs to the transient receptor (TC 1.A.4) family. LTrpC subfamily. TRPM2 sub-subfamily. {ECO 0000305}. # SIMILARITY Contains 1 nudix hydrolase domain. {ECO:0000255|PROSITE-ProRule PRU00794}. # SUBCELLULAR LOCATION TRPM2_HUMAN Cell membrane {ECO 0000269|PubMed 11385575, ECO 0000269|PubMed 11509734, ECO 0000269|PubMed 11804595, ECO 0000269|PubMed 12594222, ECO 0000269|PubMed 15561722, ECO 0000269|PubMed 16601673, ECO 0000269|PubMed 19171771, ECO 0000269|PubMed 20650899, ECO 0000269|PubMed 20660597, ECO 0000269|PubMed 22493272, ECO 0000269|PubMed 25918360, ECO 0000269|PubMed 27068538, ECO 0000269|PubMed 27383051}; Multi- pass membrane protein {ECO 0000255}. Perikaryon {ECO 0000250|UniProtKB E9PTA2}. Cell projection {ECO 0000250|UniProtKB E9PTA2}. Cytoplasmic vesicle {ECO 0000250|UniProtKB E9PTA2}. Lysosome {ECO 0000269|PubMed 27068538}. Note=Detected at the cell membrane and in intracellular vesicles in cortical neurons. Detected on neuronal cell bodies and neurites (By similarity). Detected on the cell membrane in polymorphonuclear neutrophils. Detected on cytoplasmic vesicles and lysosomes in immature bone marrow dendritic cells (By similarity). {ECO 0000250|UniProtKB E9PTA2, ECO 0000250|UniProtKB Q91YD4}. # SUBCELLULAR LOCATION TRPM2_HUMAN Isoform 1 Cell membrane {ECO 0000269|PubMed 11960981, ECO 0000269|PubMed 12594222}; Multi- pass membrane protein {ECO 0000255}. # SUBCELLULAR LOCATION TRPM2_HUMAN Isoform 2 Cell membrane {ECO 0000269|PubMed 11960981}; Multi-pass membrane protein {ECO 0000255}. # SUBCELLULAR LOCATION TRPM2_HUMAN Isoform 3 Cell membrane {ECO 0000269|PubMed 12594222}; Multi-pass membrane protein {ECO 0000255}. # SUBUNIT Isoform 1 can interact with isoform 3. This interaction decreases calcium influx through isoform 1 and suppresses susceptibility to oxidative stress-induced cell death. {ECO:0000269|PubMed 12594222}. # SUPFAM SSF55811 SSF55811 # TCDB 1.A.4.5 the transient receptor potential ca(2+) channel (trp-cc) family # TISSUE SPECIFICITY TRPM2_HUMAN Highly expressed in brain and peripheral blood cells, such as neutrophils. Also detected in bone marrow, spleen, heart, liver and lung. Isoform 2 is found in neutrophil granulocytes. {ECO 0000269|PubMed 11385575, ECO 0000269|PubMed 11509734}. # UCSC uc002zet human. [O94759-1] # WEB RESOURCE TRPM2_HUMAN Name=NIEHS-SNPs; URL="http //egp.gs.washington.edu/data/trpm2/"; # eggNOG ENOG410XR5B LUCA # eggNOG KOG3614 Eukaryota # eggNOG KOG4195 Eukaryota BLAST swissprot:TRPM2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:TRPM2_HUMAN BioCyc ZFISH:HS06903-MONOMER http://biocyc.org/getid?id=ZFISH:HS06903-MONOMER COXPRESdb 7226 http://coxpresdb.jp/data/gene/7226.shtml CleanEx HS_TRPC7 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_TRPC7 CleanEx HS_TRPM2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_TRPM2 DOI 10.1006/geno.1998.5551 http://dx.doi.org/10.1006/geno.1998.5551 DOI 10.1016/S1097-2765(01)00438-5 http://dx.doi.org/10.1016/S1097-2765(01)00438-5 DOI 10.1016/j.bbrc.2005.01.086 http://dx.doi.org/10.1016/j.bbrc.2005.01.086 DOI 10.1038/35012518 http://dx.doi.org/10.1038/35012518 DOI 10.1038/35079100 http://dx.doi.org/10.1038/35079100 DOI 10.1038/sj.emboj.7601083 http://dx.doi.org/10.1038/sj.emboj.7601083 DOI 10.1042/BJ20140747 http://dx.doi.org/10.1042/BJ20140747 DOI 10.1073/pnas.1114193109 http://dx.doi.org/10.1073/pnas.1114193109 DOI 10.1074/jbc.M109.066464 http://dx.doi.org/10.1074/jbc.M109.066464 DOI 10.1074/jbc.M110.139774 http://dx.doi.org/10.1074/jbc.M110.139774 DOI 10.1074/jbc.M112096200 http://dx.doi.org/10.1074/jbc.M112096200 DOI 10.1074/jbc.M300298200 http://dx.doi.org/10.1074/jbc.M300298200 DOI 10.1074/jbc.M411446200 http://dx.doi.org/10.1074/jbc.M411446200 DOI 10.1085/jgp.200810109 http://dx.doi.org/10.1085/jgp.200810109 DOI 10.1085/jgp.201511377 http://dx.doi.org/10.1085/jgp.201511377 DOI 10.1126/science.1062473 http://dx.doi.org/10.1126/science.1062473 DOI 10.1126/scisignal.2000278 http://dx.doi.org/10.1126/scisignal.2000278 DOI 10.1242/jcs.179796 http://dx.doi.org/10.1242/jcs.179796 DOI 10.7554/eLife.17600 http://dx.doi.org/10.7554/eLife.17600 EMBL AB001535 http://www.ebi.ac.uk/ena/data/view/AB001535 EMBL AB017549 http://www.ebi.ac.uk/ena/data/view/AB017549 EMBL AB166745 http://www.ebi.ac.uk/ena/data/view/AB166745 EMBL AJ417076 http://www.ebi.ac.uk/ena/data/view/AJ417076 EMBL AJ878416 http://www.ebi.ac.uk/ena/data/view/AJ878416 EMBL AP001754 http://www.ebi.ac.uk/ena/data/view/AP001754 EMBL AY603182 http://www.ebi.ac.uk/ena/data/view/AY603182 EMBL CH471079 http://www.ebi.ac.uk/ena/data/view/CH471079 EMBL CH471079 http://www.ebi.ac.uk/ena/data/view/CH471079 EMBL DQ012935 http://www.ebi.ac.uk/ena/data/view/DQ012935 Ensembl ENST00000300481 http://www.ensembl.org/id/ENST00000300481 Ensembl ENST00000300482 http://www.ensembl.org/id/ENST00000300482 Ensembl ENST00000397928 http://www.ensembl.org/id/ENST00000397928 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005764 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005764 GO_component GO:0005765 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005765 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0030659 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030659 GO_component GO:0043005 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043005 GO_component GO:0043204 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043204 GO_function GO:0005261 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005261 GO_function GO:0005262 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005262 GO_function GO:0005272 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005272 GO_function GO:0005509 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005509 GO_function GO:0015278 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015278 GO_function GO:0099604 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0099604 GO_process GO:0001659 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001659 GO_process GO:0002407 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002407 GO_process GO:0006816 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006816 GO_process GO:0014074 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014074 GO_process GO:0032024 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032024 GO_process GO:0035584 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035584 GO_process GO:0044849 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044849 GO_process GO:0051209 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051209 GO_process GO:0051489 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051489 GO_process GO:0070301 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070301 GO_process GO:0070588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070588 GO_process GO:0071277 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071277 GO_process GO:0071415 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071415 GO_process GO:0071502 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071502 GO_process GO:0071577 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071577 GO_process GO:0097028 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097028 GO_process GO:0097553 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097553 GO_process GO:0098703 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0098703 GO_process GO:1903223 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903223 GO_process GO:2000249 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000249 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005764 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005764 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0002376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002376 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0030154 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030154 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0048870 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048870 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 3.90.79.10 http://www.cathdb.info/version/latest/superfamily/3.90.79.10 GeneCards TRPM2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=TRPM2 GeneID 7226 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=7226 GeneTree ENSGT00760000119127 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119127 HGNC HGNC:12339 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:12339 HOGENOM HOG000236350 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000236350&db=HOGENOM6 HOVERGEN HBG055825 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG055825&db=HOVERGEN HPA HPA030976 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA030976 HPA HPA035260 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA035260 InParanoid O94759 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O94759 InterPro IPR000086 http://www.ebi.ac.uk/interpro/entry/IPR000086 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR015797 http://www.ebi.ac.uk/interpro/entry/IPR015797 InterPro IPR029594 http://www.ebi.ac.uk/interpro/entry/IPR029594 Jabion 7226 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=7226 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:7226 http://www.genome.jp/dbget-bin/www_bget?hsa:7226 KEGG_Orthology KO:K04977 http://www.genome.jp/dbget-bin/www_bget?KO:K04977 MIM 603749 http://www.ncbi.nlm.nih.gov/omim/603749 PANTHER PTHR13800:SF2 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR13800:SF2 PROSITE PS51462 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51462 PSORT swissprot:TRPM2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:TRPM2_HUMAN PSORT-B swissprot:TRPM2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:TRPM2_HUMAN PSORT2 swissprot:TRPM2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:TRPM2_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 PharmGKB PA37012 http://www.pharmgkb.org/do/serve?objId=PA37012&objCls=Gene Phobius swissprot:TRPM2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:TRPM2_HUMAN PhylomeDB O94759 http://phylomedb.org/?seqid=O94759 ProteinModelPortal O94759 http://www.proteinmodelportal.org/query/uniprot/O94759 PubMed 10830953 http://www.ncbi.nlm.nih.gov/pubmed/10830953 PubMed 11385575 http://www.ncbi.nlm.nih.gov/pubmed/11385575 PubMed 11509734 http://www.ncbi.nlm.nih.gov/pubmed/11509734 PubMed 11804595 http://www.ncbi.nlm.nih.gov/pubmed/11804595 PubMed 11960981 http://www.ncbi.nlm.nih.gov/pubmed/11960981 PubMed 12594222 http://www.ncbi.nlm.nih.gov/pubmed/12594222 PubMed 15561722 http://www.ncbi.nlm.nih.gov/pubmed/15561722 PubMed 15708008 http://www.ncbi.nlm.nih.gov/pubmed/15708008 PubMed 16601673 http://www.ncbi.nlm.nih.gov/pubmed/16601673 PubMed 19171771 http://www.ncbi.nlm.nih.gov/pubmed/19171771 PubMed 19454650 http://www.ncbi.nlm.nih.gov/pubmed/19454650 PubMed 20650899 http://www.ncbi.nlm.nih.gov/pubmed/20650899 PubMed 20660597 http://www.ncbi.nlm.nih.gov/pubmed/20660597 PubMed 22493272 http://www.ncbi.nlm.nih.gov/pubmed/22493272 PubMed 25562606 http://www.ncbi.nlm.nih.gov/pubmed/25562606 PubMed 25918360 http://www.ncbi.nlm.nih.gov/pubmed/25918360 PubMed 27068538 http://www.ncbi.nlm.nih.gov/pubmed/27068538 PubMed 27383051 http://www.ncbi.nlm.nih.gov/pubmed/27383051 PubMed 9806837 http://www.ncbi.nlm.nih.gov/pubmed/9806837 Reactome R-HSA-3295583 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-3295583 Reactome R-HSA-6798695 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6798695 RefSeq NP_001307279 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001307279 RefSeq NP_001307280 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001307280 RefSeq NP_003298 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_003298 RefSeq XP_005261228 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005261228 SMR O94759 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=O94759 STRING 9606.ENSP00000300482 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000300482&targetmode=cogs SUPFAM SSF55811 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF55811 TCDB 1.A.4.5 http://www.tcdb.org/search/result.php?tc=1.A.4.5 UCSC uc002zet http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002zet&org=rat UniGene Hs.369759 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.369759 UniProtKB TRPM2_HUMAN http://www.uniprot.org/uniprot/TRPM2_HUMAN UniProtKB-AC O94759 http://www.uniprot.org/uniprot/O94759 charge swissprot:TRPM2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:TRPM2_HUMAN eggNOG ENOG410XR5B http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XR5B eggNOG KOG3614 http://eggnogapi.embl.de/nog_data/html/tree/KOG3614 eggNOG KOG4195 http://eggnogapi.embl.de/nog_data/html/tree/KOG4195 epestfind swissprot:TRPM2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:TRPM2_HUMAN garnier swissprot:TRPM2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:TRPM2_HUMAN helixturnhelix swissprot:TRPM2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:TRPM2_HUMAN hmoment swissprot:TRPM2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:TRPM2_HUMAN iep swissprot:TRPM2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:TRPM2_HUMAN inforesidue swissprot:TRPM2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:TRPM2_HUMAN neXtProt NX_O94759 http://www.nextprot.org/db/entry/NX_O94759 octanol swissprot:TRPM2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:TRPM2_HUMAN pepcoil swissprot:TRPM2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:TRPM2_HUMAN pepdigest swissprot:TRPM2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:TRPM2_HUMAN pepinfo swissprot:TRPM2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:TRPM2_HUMAN pepnet swissprot:TRPM2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:TRPM2_HUMAN pepstats swissprot:TRPM2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:TRPM2_HUMAN pepwheel swissprot:TRPM2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:TRPM2_HUMAN pepwindow swissprot:TRPM2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:TRPM2_HUMAN sigcleave swissprot:TRPM2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:TRPM2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS VGLU1_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9P2U7-1; Sequence=Displayed; Name=2; IsoId=Q9P2U7-2; Sequence=VSP_056110; Note=No experimental confirmation available.; Name=3; IsoId=Q9P2U7-3; Sequence=VSP_056111; Note=No experimental confirmation available.; # AltName VGLU1_HUMAN Brain-specific Na(+)-dependent inorganic phosphate cotransporter # AltName VGLU1_HUMAN Solute carrier family 17 member 7 # CCDS CCDS12764 -. [Q9P2U7-1] # CDD cd06174 MFS # ChiTaRS SLC17A7 human # Ensembl ENST00000221485 ENSP00000221485; ENSG00000104888. [Q9P2U7-1] # Ensembl ENST00000600601 ENSP00000470338; ENSG00000104888. [Q9P2U7-2] # ExpressionAtlas Q9P2U7 baseline and differential # FUNCTION VGLU1_HUMAN Mediates the uptake of glutamate into synaptic vesicles at presynaptic nerve terminals of excitatory neural cells. May also mediate the transport of inorganic phosphate. {ECO 0000269|PubMed 10820226}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0016021 integral component of membrane; IDA:MGI. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0030672 synaptic vesicle membrane; IBA:GO_Central. # GO_component GO:0044300 cerebellar mossy fiber; IEA:Ensembl. # GO_component GO:0048786 presynaptic active zone; IEA:Ensembl. # GO_component GO:0060076 excitatory synapse; IEA:Ensembl. # GO_component GO:0060203 clathrin-sculpted glutamate transport vesicle membrane; TAS:Reactome. # GO_component GO:0098794 postsynapse; IEA:GOC. # GO_function GO:0005313 L-glutamate transmembrane transporter activity; TAS:Reactome. # GO_function GO:0005315 inorganic phosphate transmembrane transporter activity; IEA:Ensembl. # GO_function GO:0008068 extracellular-glutamate-gated chloride channel activity; IEA:Ensembl. # GO_function GO:0015321 sodium-dependent phosphate transmembrane transporter activity; TAS:ProtInc. # GO_function VGLU1_HUMAN GO 0015319 sodium inorganic phosphate symporter activity; IDA MGI. # GO_process GO:0003407 neural retina development; IEA:Ensembl. # GO_process GO:0006811 ion transport; TAS:Reactome. # GO_process GO:0006817 phosphate ion transport; TAS:ProtInc. # GO_process GO:0006836 neurotransmitter transport; IEA:UniProtKB-KW. # GO_process GO:0007420 brain development; IEA:Ensembl. # GO_process GO:0007616 long-term memory; IEA:Ensembl. # GO_process GO:0014047 glutamate secretion; TAS:Reactome. # GO_process GO:0035249 synaptic transmission, glutamatergic; IEA:Ensembl. # GO_process GO:0042137 sequestering of neurotransmitter; IEA:Ensembl. # GO_process GO:0051938 L-glutamate import; IEA:Ensembl. # GO_process GO:0060079 excitatory postsynaptic potential; IEA:Ensembl. # GO_process GO:0097401 synaptic vesicle lumen acidification; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0050877 neurological system process # Genevisible Q9P2U7 HS # HGNC HGNC:16704 SLC17A7 # InterPro IPR011701 MFS # InterPro IPR020846 MFS_dom # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02000 Transporters # KEGG_Brite ko02001 Solute carrier family # KEGG_Pathway ko04721 Synaptic vesicle cycle # KEGG_Pathway ko04723 Retrograde endocannabinoid signaling # KEGG_Pathway ko04724 Glutamatergic synapse # KEGG_Pathway ko05033 Nicotine addiction # MIM 605208 gene # Organism VGLU1_HUMAN Homo sapiens (Human) # PROSITE PS50850 MFS # Pfam PF07690 MFS_1 # Proteomes UP000005640 Chromosome 19 # Reactome R-HSA-210500 Glutamate Neurotransmitter Release Cycle # Reactome R-HSA-428643 Organic anion transporters # RecName VGLU1_HUMAN Vesicular glutamate transporter 1 # RefSeq NP_064705 NM_020309.3. [Q9P2U7-1] # SIMILARITY Belongs to the major facilitator superfamily. Sodium/anion cotransporter family. VGLUT subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION VGLU1_HUMAN Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO 0000250|UniProtKB Q3TXX4}. Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. Cell junction, synapse, synaptosome {ECO 0000250|UniProtKB Q3TXX4}. # SUBUNIT Interacts with SHANK3. {ECO 0000250}. # SUPFAM SSF103473 SSF103473 # TCDB 2.A.1.14.30 the major facilitator superfamily (mfs) # TISSUE SPECIFICITY Expressed in several regions of the brain including amygdala, cerebellum, cerebral cortex, hippocampus, frontal lobe, medulla, occipital lobe, putamen and temporal lobe. {ECO:0000269|PubMed 10820226}. # TopDownProteomics Q9P2U7-1 -. [Q9P2U7-1] # UCSC uc002pnp human. [Q9P2U7-1] # eggNOG ENOG410XPWC LUCA # eggNOG KOG2532 Eukaryota BLAST swissprot:VGLU1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:VGLU1_HUMAN BioCyc ZFISH:ENSG00000104888-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000104888-MONOMER COXPRESdb 57030 http://coxpresdb.jp/data/gene/57030.shtml CleanEx HS_SLC17A7 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC17A7 DOI 10.1038/nature02399 http://dx.doi.org/10.1038/nature02399 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1046/j.1471-4159.2000.0742622.x http://dx.doi.org/10.1046/j.1471-4159.2000.0742622.x DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AB032436 http://www.ebi.ac.uk/ena/data/view/AB032436 EMBL AC010619 http://www.ebi.ac.uk/ena/data/view/AC010619 EMBL AK294226 http://www.ebi.ac.uk/ena/data/view/AK294226 EMBL AK294405 http://www.ebi.ac.uk/ena/data/view/AK294405 EMBL BC059379 http://www.ebi.ac.uk/ena/data/view/BC059379 EMBL CH471177 http://www.ebi.ac.uk/ena/data/view/CH471177 Ensembl ENST00000221485 http://www.ensembl.org/id/ENST00000221485 Ensembl ENST00000600601 http://www.ensembl.org/id/ENST00000600601 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0030672 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030672 GO_component GO:0044300 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044300 GO_component GO:0048786 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048786 GO_component GO:0060076 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060076 GO_component GO:0060203 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060203 GO_component GO:0098794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0098794 GO_function GO:0005313 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005313 GO_function GO:0005315 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005315 GO_function GO:0008068 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008068 GO_function GO:0015319 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015319 GO_function GO:0015321 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015321 GO_process GO:0003407 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003407 GO_process GO:0006811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006811 GO_process GO:0006817 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006817 GO_process GO:0006836 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006836 GO_process GO:0007420 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007420 GO_process GO:0007616 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007616 GO_process GO:0014047 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014047 GO_process GO:0035249 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035249 GO_process GO:0042137 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042137 GO_process GO:0051938 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051938 GO_process GO:0060079 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060079 GO_process GO:0097401 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097401 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GeneCards SLC17A7 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC17A7 GeneID 57030 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=57030 GeneTree ENSGT00760000119079 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119079 HGNC HGNC:16704 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:16704 HOGENOM HOG000230812 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000230812&db=HOGENOM6 HOVERGEN HBG008834 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG008834&db=HOVERGEN HPA CAB037183 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB037183 HPA HPA050458 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA050458 HPA HPA063679 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA063679 InParanoid Q9P2U7 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9P2U7 InterPro IPR011701 http://www.ebi.ac.uk/interpro/entry/IPR011701 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 57030 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=57030 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:57030 http://www.genome.jp/dbget-bin/www_bget?hsa:57030 KEGG_Orthology KO:K12302 http://www.genome.jp/dbget-bin/www_bget?KO:K12302 KEGG_Pathway ko04721 http://www.genome.jp/kegg-bin/show_pathway?ko04721 KEGG_Pathway ko04723 http://www.genome.jp/kegg-bin/show_pathway?ko04723 KEGG_Pathway ko04724 http://www.genome.jp/kegg-bin/show_pathway?ko04724 KEGG_Pathway ko05033 http://www.genome.jp/kegg-bin/show_pathway?ko05033 MIM 605208 http://www.ncbi.nlm.nih.gov/omim/605208 OMA DKSEEYV http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=DKSEEYV OrthoDB EOG091G06DG http://cegg.unige.ch/orthodb/results?searchtext=EOG091G06DG PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PSORT swissprot:VGLU1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:VGLU1_HUMAN PSORT-B swissprot:VGLU1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:VGLU1_HUMAN PSORT2 swissprot:VGLU1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:VGLU1_HUMAN Pfam PF07690 http://pfam.xfam.org/family/PF07690 PharmGKB PA423 http://www.pharmgkb.org/do/serve?objId=PA423&objCls=Gene Phobius swissprot:VGLU1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:VGLU1_HUMAN PhylomeDB Q9P2U7 http://phylomedb.org/?seqid=Q9P2U7 ProteinModelPortal Q9P2U7 http://www.proteinmodelportal.org/query/uniprot/Q9P2U7 PubMed 10820226 http://www.ncbi.nlm.nih.gov/pubmed/10820226 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15057824 http://www.ncbi.nlm.nih.gov/pubmed/15057824 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 Reactome R-HSA-210500 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-210500 Reactome R-HSA-428643 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-428643 RefSeq NP_064705 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_064705 STRING 9606.ENSP00000221485 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000221485&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.1.14.30 http://www.tcdb.org/search/result.php?tc=2.A.1.14.30 UCSC uc002pnp http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002pnp&org=rat UniGene Hs.375616 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.375616 UniProtKB VGLU1_HUMAN http://www.uniprot.org/uniprot/VGLU1_HUMAN UniProtKB-AC Q9P2U7 http://www.uniprot.org/uniprot/Q9P2U7 charge swissprot:VGLU1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:VGLU1_HUMAN eggNOG ENOG410XPWC http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XPWC eggNOG KOG2532 http://eggnogapi.embl.de/nog_data/html/tree/KOG2532 epestfind swissprot:VGLU1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:VGLU1_HUMAN garnier swissprot:VGLU1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:VGLU1_HUMAN helixturnhelix swissprot:VGLU1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:VGLU1_HUMAN hmoment swissprot:VGLU1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:VGLU1_HUMAN iep swissprot:VGLU1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:VGLU1_HUMAN inforesidue swissprot:VGLU1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:VGLU1_HUMAN neXtProt NX_Q9P2U7 http://www.nextprot.org/db/entry/NX_Q9P2U7 octanol swissprot:VGLU1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:VGLU1_HUMAN pepcoil swissprot:VGLU1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:VGLU1_HUMAN pepdigest swissprot:VGLU1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:VGLU1_HUMAN pepinfo swissprot:VGLU1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:VGLU1_HUMAN pepnet swissprot:VGLU1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:VGLU1_HUMAN pepstats swissprot:VGLU1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:VGLU1_HUMAN pepwheel swissprot:VGLU1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:VGLU1_HUMAN pepwindow swissprot:VGLU1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:VGLU1_HUMAN sigcleave swissprot:VGLU1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:VGLU1_HUMAN ## Database ID URL or Descriptions # AltName COX6C_HUMAN Cytochrome c oxidase polypeptide VIc # BioGrid 107738 22 # CDD cd00927 Cyt_c_Oxidase_VIc # ChiTaRS COX6C human # DrugBank DB02659 Cholic Acid # Ensembl ENST00000297564 ENSP00000297564; ENSG00000164919 # Ensembl ENST00000517682 ENSP00000429714; ENSG00000164919 # Ensembl ENST00000518171 ENSP00000429755; ENSG00000164919 # Ensembl ENST00000520271 ENSP00000428150; ENSG00000164919 # Ensembl ENST00000520468 ENSP00000428895; ENSG00000164919 # Ensembl ENST00000520517 ENSP00000429991; ENSG00000164919 # Ensembl ENST00000522934 ENSP00000428702; ENSG00000164919 # Ensembl ENST00000522940 ENSP00000428965; ENSG00000164919 # Ensembl ENST00000523016 ENSP00000429707; ENSG00000164919 # Ensembl ENST00000524245 ENSP00000429410; ENSG00000164919 # ExpressionAtlas P09669 baseline and differential # FUNCTION COX6C_HUMAN This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport. # GO_component GO:0005739 mitochondrion; IDA:HPA. # GO_component GO:0005743 mitochondrial inner membrane; TAS:Reactome. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0004129 cytochrome-c oxidase activity; IEA:InterPro. # GO_process GO:0006091 generation of precursor metabolites and energy; TAS:ProtInc. # GO_process GO:0006123 mitochondrial electron transport, cytochrome c to oxygen; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005739 mitochondrion # GOslim_function GO:0016491 oxidoreductase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006091 generation of precursor metabolites and energy # Gene3D 4.10.93.10 -; 1. # Genevisible P09669 HS # HGNC HGNC:2285 COX6C # IntAct P09669 25 # InterPro IPR004204 COX6C # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Pathway ko00190 Oxidative phosphorylation # KEGG_Pathway ko04260 Cardiac muscle contraction # KEGG_Pathway ko05010 Alzheimer's disease # KEGG_Pathway ko05012 Parkinson's disease # KEGG_Pathway ko05016 Huntington's disease # MIM 124090 gene # Organism COX6C_HUMAN Homo sapiens (Human) # PANTHER PTHR12916 PTHR12916 # PIR S01960 OGHU6C # ProDom PD015032 Cyt_c_oxidase_su6c # Proteomes UP000005640 Chromosome 8 # Reactome R-HSA-5628897 TP53 Regulates Metabolic Genes # Reactome R-HSA-611105 Respiratory electron transport # RecName COX6C_HUMAN Cytochrome c oxidase subunit 6C # RefSeq NP_004365 NM_004374.3 # RefSeq XP_016868509 XM_017013020.1 # SIMILARITY Belongs to the cytochrome c oxidase subunit 6c family. {ECO 0000305}. # SUBCELLULAR LOCATION COX6C_HUMAN Mitochondrion inner membrane. # UCSC uc003yiy human # WEB RESOURCE COX6C_HUMAN Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http //atlasgeneticsoncology.org/Genes/COX6CID251.html"; # eggNOG ENOG410J83U Eukaryota # eggNOG ENOG41124VH LUCA BLAST swissprot:COX6C_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:COX6C_HUMAN BioCyc ZFISH:HS09158-MONOMER http://biocyc.org/getid?id=ZFISH:HS09158-MONOMER COXPRESdb 1345 http://coxpresdb.jp/data/gene/1345.shtml CleanEx HS_COX6C http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_COX6C DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.0908958106 http://dx.doi.org/10.1073/pnas.0908958106 DOI 10.1073/pnas.1210303109 http://dx.doi.org/10.1073/pnas.1210303109 DOI 10.1093/nar/16.22.10916 http://dx.doi.org/10.1093/nar/16.22.10916 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DrugBank DB02659 http://www.drugbank.ca/drugs/DB02659 EMBL AF067636 http://www.ebi.ac.uk/ena/data/view/AF067636 EMBL AF067637 http://www.ebi.ac.uk/ena/data/view/AF067637 EMBL AK311791 http://www.ebi.ac.uk/ena/data/view/AK311791 EMBL BC000187 http://www.ebi.ac.uk/ena/data/view/BC000187 EMBL BT007007 http://www.ebi.ac.uk/ena/data/view/BT007007 EMBL CH471060 http://www.ebi.ac.uk/ena/data/view/CH471060 EMBL X13238 http://www.ebi.ac.uk/ena/data/view/X13238 Ensembl ENST00000297564 http://www.ensembl.org/id/ENST00000297564 Ensembl ENST00000517682 http://www.ensembl.org/id/ENST00000517682 Ensembl ENST00000518171 http://www.ensembl.org/id/ENST00000518171 Ensembl ENST00000520271 http://www.ensembl.org/id/ENST00000520271 Ensembl ENST00000520468 http://www.ensembl.org/id/ENST00000520468 Ensembl ENST00000520517 http://www.ensembl.org/id/ENST00000520517 Ensembl ENST00000522934 http://www.ensembl.org/id/ENST00000522934 Ensembl ENST00000522940 http://www.ensembl.org/id/ENST00000522940 Ensembl ENST00000523016 http://www.ensembl.org/id/ENST00000523016 Ensembl ENST00000524245 http://www.ensembl.org/id/ENST00000524245 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0004129 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004129 GO_process GO:0006091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006091 GO_process GO:0006123 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006123 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_function GO:0016491 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016491 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006091 Gene3D 4.10.93.10 http://www.cathdb.info/version/latest/superfamily/4.10.93.10 GeneCards COX6C http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=COX6C GeneID 1345 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=1345 GeneTree ENSGT00390000004573 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000004573 HGNC HGNC:2285 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:2285 HOGENOM HOG000039249 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000039249&db=HOGENOM6 HOVERGEN HBG051091 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG051091&db=HOVERGEN HPA CAB016244 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB016244 HPA HPA014295 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA014295 InParanoid P09669 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P09669 IntAct P09669 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P09669* InterPro IPR004204 http://www.ebi.ac.uk/interpro/entry/IPR004204 Jabion 1345 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=1345 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00002 http://www.genome.jp/dbget-bin/www_bget?ko00002 KEGG_Gene hsa:1345 http://www.genome.jp/dbget-bin/www_bget?hsa:1345 KEGG_Orthology KO:K02268 http://www.genome.jp/dbget-bin/www_bget?KO:K02268 KEGG_Pathway ko00190 http://www.genome.jp/kegg-bin/show_pathway?ko00190 KEGG_Pathway ko04260 http://www.genome.jp/kegg-bin/show_pathway?ko04260 KEGG_Pathway ko05010 http://www.genome.jp/kegg-bin/show_pathway?ko05010 KEGG_Pathway ko05012 http://www.genome.jp/kegg-bin/show_pathway?ko05012 KEGG_Pathway ko05016 http://www.genome.jp/kegg-bin/show_pathway?ko05016 MIM 124090 http://www.ncbi.nlm.nih.gov/omim/124090 OMA KPVMRGL http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=KPVMRGL OrthoDB EOG091G10KX http://cegg.unige.ch/orthodb/results?searchtext=EOG091G10KX PANTHER PTHR12916 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12916 PSORT swissprot:COX6C_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:COX6C_HUMAN PSORT-B swissprot:COX6C_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:COX6C_HUMAN PSORT2 swissprot:COX6C_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:COX6C_HUMAN PharmGKB PA26802 http://www.pharmgkb.org/do/serve?objId=PA26802&objCls=Gene Phobius swissprot:COX6C_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:COX6C_HUMAN PhylomeDB P09669 http://phylomedb.org/?seqid=P09669 ProteinModelPortal P09669 http://www.proteinmodelportal.org/query/uniprot/P09669 PubMed 10072584 http://www.ncbi.nlm.nih.gov/pubmed/10072584 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 19892738 http://www.ncbi.nlm.nih.gov/pubmed/19892738 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 22814378 http://www.ncbi.nlm.nih.gov/pubmed/22814378 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 2849755 http://www.ncbi.nlm.nih.gov/pubmed/2849755 Reactome R-HSA-5628897 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5628897 Reactome R-HSA-611105 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-611105 RefSeq NP_004365 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004365 RefSeq XP_016868509 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016868509 SMR P09669 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P09669 STRING 9606.ENSP00000297564 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000297564&targetmode=cogs UCSC uc003yiy http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003yiy&org=rat UniGene Hs.351875 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.351875 UniProtKB COX6C_HUMAN http://www.uniprot.org/uniprot/COX6C_HUMAN UniProtKB-AC P09669 http://www.uniprot.org/uniprot/P09669 charge swissprot:COX6C_HUMAN http://rest.g-language.org/emboss/charge/swissprot:COX6C_HUMAN eggNOG ENOG410J83U http://eggnogapi.embl.de/nog_data/html/tree/ENOG410J83U eggNOG ENOG41124VH http://eggnogapi.embl.de/nog_data/html/tree/ENOG41124VH epestfind swissprot:COX6C_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:COX6C_HUMAN garnier swissprot:COX6C_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:COX6C_HUMAN helixturnhelix swissprot:COX6C_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:COX6C_HUMAN hmoment swissprot:COX6C_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:COX6C_HUMAN iep swissprot:COX6C_HUMAN http://rest.g-language.org/emboss/iep/swissprot:COX6C_HUMAN inforesidue swissprot:COX6C_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:COX6C_HUMAN neXtProt NX_P09669 http://www.nextprot.org/db/entry/NX_P09669 octanol swissprot:COX6C_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:COX6C_HUMAN pepcoil swissprot:COX6C_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:COX6C_HUMAN pepdigest swissprot:COX6C_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:COX6C_HUMAN pepinfo swissprot:COX6C_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:COX6C_HUMAN pepnet swissprot:COX6C_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:COX6C_HUMAN pepstats swissprot:COX6C_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:COX6C_HUMAN pepwheel swissprot:COX6C_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:COX6C_HUMAN pepwindow swissprot:COX6C_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:COX6C_HUMAN sigcleave swissprot:COX6C_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:COX6C_HUMAN ## Database ID URL or Descriptions # AltName PKDRE_HUMAN PKD and REJ homolog # BioGrid 115625 3 # Ensembl ENST00000253255 ENSP00000253255; ENSG00000130943 # FUNCTION PKDRE_HUMAN May have a central role in fertilization. May generate a Ca(2+) transporting channel directly involved in initiating the acrosome reaction of the sperm. # GO_component GO:0016020 membrane; TAS:ProtInc. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0005262 calcium channel activity; IBA:GO_Central. # GO_function GO:0005509 calcium ion binding; IEA:InterPro. # GO_process GO:0007340 acrosome reaction; TAS:ProtInc. # GO_process GO:0050982 detection of mechanical stimulus; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0008150 biological_process # Gene3D 2.60.60.20 -; 1. # Genevisible Q9NTG1 HS # HGNC HGNC:9015 PKDREJ # InterPro IPR000203 GPS # InterPro IPR001024 PLAT/LH2_dom # InterPro IPR002859 PKD/REJ-like # InterPro IPR003915 PKD_2 # InterPro IPR013122 PKD1_2_channel # InterPro IPR014010 REJ_dom # MIM 604670 gene # Organism PKDRE_HUMAN Homo sapiens (Human) # PIR T46355 T46355 # PRINTS PR01433 POLYCYSTIN2 # PROSITE PS50095 PLAT # PROSITE PS51111 REJ # Pfam PF01477 PLAT # Pfam PF02010 REJ # Pfam PF08016 PKD_channel # Proteomes UP000005640 Chromosome 22 # RecName PKDRE_HUMAN Polycystic kidney disease and receptor for egg jelly-related protein # RefSeq NP_006062 NM_006071.1 # SIMILARITY Belongs to the polycystin family. {ECO 0000305}. # SIMILARITY Contains 1 PLAT domain. {ECO:0000255|PROSITE- ProRule PRU00152}. # SIMILARITY Contains 1 REJ domain. {ECO:0000255|PROSITE- ProRule PRU00511}. # SMART SM00303 GPS # SMART SM00308 LH2 # SUBCELLULAR LOCATION PKDRE_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # SUBUNIT PKDRE_HUMAN May form homomultimers or heteromultimers in combination with an as yet unidentified subunits. # SUPFAM SSF49723 SSF49723 # TISSUE SPECIFICITY PKDRE_HUMAN Exclusively expressed in testis. # UCSC uc003bhh human # eggNOG ENOG410IQ5F Eukaryota # eggNOG ENOG410ZBZ7 LUCA BLAST swissprot:PKDRE_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:PKDRE_HUMAN BioCyc ZFISH:ENSG00000130943-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000130943-MONOMER COXPRESdb 10343 http://coxpresdb.jp/data/gene/10343.shtml CleanEx HS_PKDREJ http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_PKDREJ DOI 10.1016/S0165-6147(00)01832-0 http://dx.doi.org/10.1016/S0165-6147(00)01832-0 DOI 10.1038/990031 http://dx.doi.org/10.1038/990031 DOI 10.1093/hmg/8.3.543 http://dx.doi.org/10.1093/hmg/8.3.543 DOI 10.1126/science.1133427 http://dx.doi.org/10.1126/science.1133427 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 EMBL AF116458 http://www.ebi.ac.uk/ena/data/view/AF116458 EMBL AL031034 http://www.ebi.ac.uk/ena/data/view/AL031034 EMBL AL031034 http://www.ebi.ac.uk/ena/data/view/AL031034 EMBL AL078611 http://www.ebi.ac.uk/ena/data/view/AL078611 EMBL AL078611 http://www.ebi.ac.uk/ena/data/view/AL078611 EMBL AL137288 http://www.ebi.ac.uk/ena/data/view/AL137288 EMBL CH471138 http://www.ebi.ac.uk/ena/data/view/CH471138 EMBL Z93024 http://www.ebi.ac.uk/ena/data/view/Z93024 EMBL Z93024 http://www.ebi.ac.uk/ena/data/view/Z93024 Ensembl ENST00000253255 http://www.ensembl.org/id/ENST00000253255 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005262 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005262 GO_function GO:0005509 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005509 GO_process GO:0007340 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007340 GO_process GO:0050982 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050982 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 Gene3D 2.60.60.20 http://www.cathdb.info/version/latest/superfamily/2.60.60.20 GeneCards PKDREJ http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=PKDREJ GeneID 10343 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=10343 GeneTree ENSGT00700000104221 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00700000104221 HGNC HGNC:9015 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:9015 HOVERGEN HBG053603 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG053603&db=HOVERGEN HPA HPA034587 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA034587 InParanoid Q9NTG1 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9NTG1 IntAct Q9NTG1 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9NTG1* InterPro IPR000203 http://www.ebi.ac.uk/interpro/entry/IPR000203 InterPro IPR001024 http://www.ebi.ac.uk/interpro/entry/IPR001024 InterPro IPR002859 http://www.ebi.ac.uk/interpro/entry/IPR002859 InterPro IPR003915 http://www.ebi.ac.uk/interpro/entry/IPR003915 InterPro IPR013122 http://www.ebi.ac.uk/interpro/entry/IPR013122 InterPro IPR014010 http://www.ebi.ac.uk/interpro/entry/IPR014010 Jabion 10343 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=10343 KEGG_Gene hsa:10343 http://www.genome.jp/dbget-bin/www_bget?hsa:10343 MIM 604670 http://www.ncbi.nlm.nih.gov/omim/604670 OMA CRNCFYP http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=CRNCFYP OrthoDB EOG091G004D http://cegg.unige.ch/orthodb/results?searchtext=EOG091G004D PRINTS PR01433 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01433 PROSITE PS50095 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50095 PROSITE PS51111 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51111 PSORT swissprot:PKDRE_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:PKDRE_HUMAN PSORT-B swissprot:PKDRE_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:PKDRE_HUMAN PSORT2 swissprot:PKDRE_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:PKDRE_HUMAN Pfam PF01477 http://pfam.xfam.org/family/PF01477 Pfam PF02010 http://pfam.xfam.org/family/PF02010 Pfam PF08016 http://pfam.xfam.org/family/PF08016 PharmGKB PA33347 http://www.pharmgkb.org/do/serve?objId=PA33347&objCls=Gene Phobius swissprot:PKDRE_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:PKDRE_HUMAN PhylomeDB Q9NTG1 http://phylomedb.org/?seqid=Q9NTG1 ProteinModelPortal Q9NTG1 http://www.proteinmodelportal.org/query/uniprot/Q9NTG1 PubMed 10591208 http://www.ncbi.nlm.nih.gov/pubmed/10591208 PubMed 11698076 http://www.ncbi.nlm.nih.gov/pubmed/11698076 PubMed 16959974 http://www.ncbi.nlm.nih.gov/pubmed/16959974 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 PubMed 9949214 http://www.ncbi.nlm.nih.gov/pubmed/9949214 RefSeq NP_006062 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_006062 SMART SM00303 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00303 SMART SM00308 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00308 SMR Q9NTG1 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9NTG1 STRING 9606.ENSP00000253255 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000253255&targetmode=cogs SUPFAM SSF49723 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF49723 UCSC uc003bhh http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003bhh&org=rat UniGene Hs.241383 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.241383 UniProtKB PKDRE_HUMAN http://www.uniprot.org/uniprot/PKDRE_HUMAN UniProtKB-AC Q9NTG1 http://www.uniprot.org/uniprot/Q9NTG1 charge swissprot:PKDRE_HUMAN http://rest.g-language.org/emboss/charge/swissprot:PKDRE_HUMAN eggNOG ENOG410IQ5F http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IQ5F eggNOG ENOG410ZBZ7 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410ZBZ7 epestfind swissprot:PKDRE_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:PKDRE_HUMAN garnier swissprot:PKDRE_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:PKDRE_HUMAN helixturnhelix swissprot:PKDRE_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:PKDRE_HUMAN hmoment swissprot:PKDRE_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:PKDRE_HUMAN iep swissprot:PKDRE_HUMAN http://rest.g-language.org/emboss/iep/swissprot:PKDRE_HUMAN inforesidue swissprot:PKDRE_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:PKDRE_HUMAN neXtProt NX_Q9NTG1 http://www.nextprot.org/db/entry/NX_Q9NTG1 octanol swissprot:PKDRE_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:PKDRE_HUMAN pepcoil swissprot:PKDRE_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:PKDRE_HUMAN pepdigest swissprot:PKDRE_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:PKDRE_HUMAN pepinfo swissprot:PKDRE_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:PKDRE_HUMAN pepnet swissprot:PKDRE_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:PKDRE_HUMAN pepstats swissprot:PKDRE_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:PKDRE_HUMAN pepwheel swissprot:PKDRE_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:PKDRE_HUMAN pepwindow swissprot:PKDRE_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:PKDRE_HUMAN sigcleave swissprot:PKDRE_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:PKDRE_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS CLCKB_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P51801-1; Sequence=Displayed; Name=2; IsoId=P51801-2; Sequence=VSP_045965, VSP_045966, VSP_045967; Note=No experimental confirmation available.; # AltName CLCKB_HUMAN ClC-K2 # CCDS CCDS168 -. [P51801-1] # CCDS CCDS57974 -. [P51801-2] # ChiTaRS CLCNKB human # DISEASE CLCKB_HUMAN Bartter syndrome 3 (BARTS3) [MIM 607364] A form of Bartter syndrome, an autosomal recessive disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. {ECO 0000269|PubMed 9326936}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE CLCKB_HUMAN Bartter syndrome 4B, neonatal, with sensorineural deafness (BARTS4B) [MIM 613090] A digenic form of Bartter syndrome, an autosomal recessive disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. BARTS4B is associated with sensorineural deafness. {ECO 0000269|PubMed 15044642, ECO 0000269|PubMed 18310267}. Note=The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry. Loss-of-function of both CLCNKA and CLCNKB results in the disease phenotype (PubMed 18310267). {ECO 0000269|PubMed 18310267}. # Ensembl ENST00000375667 ENSP00000364819; ENSG00000184908. [P51801-2] # Ensembl ENST00000375679 ENSP00000364831; ENSG00000184908. [P51801-1] # ExpressionAtlas P51801 baseline and differential # FUNCTION CLCKB_HUMAN Voltage-gated chloride channel. Chloride channels have several functions including the regulation of cell volume; membrane potential stabilization, signal transduction and transepithelial transport. May be important in urinary concentrating mechanisms. {ECO 0000269|PubMed 11734858}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0034707 chloride channel complex; IEA:UniProtKB-KW. # GO_function GO:0005247 voltage-gated chloride channel activity; TAS:Reactome. # GO_function GO:0031404 chloride ion binding; IBA:GO_Central. # GO_function GO:0046872 metal ion binding; IEA:UniProtKB-KW. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0007588 excretion; TAS:ProtInc. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:1902476 chloride transmembrane transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.10.3080.10 -; 2. # Genevisible P51801 HS # HGNC HGNC:2027 CLCNKB # InterPro IPR000644 CBS_dom # InterPro IPR001807 Cl-channel_volt-gated # InterPro IPR002250 Cl_channel-K # InterPro IPR014743 Cl-channel_core # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00239 [Endocrine disease; Urinary system disease] Bartter syndrome # KEGG_Pathway ko04966 Collecting duct acid secretion # MIM 602023 gene # MIM 607364 phenotype # MIM 613090 phenotype # MISCELLANEOUS CLCKB_HUMAN Compared with CLCNKA/BSND, CLCNKB/BSND is more sensitive to pH and less responsive to Ca(2+). # Organism CLCKB_HUMAN Homo sapiens (Human) # Orphanet 358 Gitelman syndrome # Orphanet 89938 Infantile Bartter syndrome with sensorineural deafness # Orphanet 93605 Classic Bartter syndrome # PIR D57713 D57713 # PRINTS PR00762 CLCHANNEL # PRINTS PR01119 CLCHANNELKDY # PROSITE PS51371 CBS; 2 # Pfam PF00571 CBS # Pfam PF00654 Voltage_CLC # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-2672351 Stimuli-sensing channels # RecName CLCKB_HUMAN Chloride channel protein ClC-Kb # RefSeq NP_000076 NM_000085.4. [P51801-1] # RefSeq NP_001159417 NM_001165945.2. [P51801-2] # SIMILARITY Belongs to the chloride channel (TC 2.A.49) family. CLCNKB subfamily. {ECO 0000305}. # SIMILARITY Contains 2 CBS domains. {ECO:0000255|PROSITE- ProRule PRU00703}. # SMART SM00116 CBS; 2 # SUBCELLULAR LOCATION CLCKB_HUMAN Cell membrane; Multi-pass membrane protein. # SUBUNIT Interacts with BSND. Forms heteromers with BSND in the thick ascending limb of Henle and more distal segments (By similarity). {ECO 0000250}. # SUPFAM SSF81340 SSF81340; 2 # TISSUE SPECIFICITY Expressed predominantly in the kidney. {ECO:0000269|PubMed 11734858}. # UCSC uc001axx human. [P51801-1] # eggNOG COG0038 LUCA # eggNOG KOG0476 Eukaryota BLAST swissprot:CLCKB_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CLCKB_HUMAN BioCyc ZFISH:G66-32518-MONOMER http://biocyc.org/getid?id=ZFISH:G66-32518-MONOMER COXPRESdb 1188 http://coxpresdb.jp/data/gene/1188.shtml CleanEx HS_CLCNKB http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CLCNKB DOI 10.1038/35107099 http://dx.doi.org/10.1038/35107099 DOI 10.1038/ki.1995.439 http://dx.doi.org/10.1038/ki.1995.439 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1038/ng1097-171 http://dx.doi.org/10.1038/ng1097-171 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1056/NEJMoa032843 http://dx.doi.org/10.1056/NEJMoa032843 DOI 10.1073/pnas.91.15.6943 http://dx.doi.org/10.1073/pnas.91.15.6943 DOI 10.1136/jmg.2007.052944 http://dx.doi.org/10.1136/jmg.2007.052944 EMBL AK098217 http://www.ebi.ac.uk/ena/data/view/AK098217 EMBL AL355994 http://www.ebi.ac.uk/ena/data/view/AL355994 EMBL AL355994 http://www.ebi.ac.uk/ena/data/view/AL355994 EMBL S80315 http://www.ebi.ac.uk/ena/data/view/S80315 EMBL U93879 http://www.ebi.ac.uk/ena/data/view/U93879 EMBL Z30644 http://www.ebi.ac.uk/ena/data/view/Z30644 Ensembl ENST00000375667 http://www.ensembl.org/id/ENST00000375667 Ensembl ENST00000375679 http://www.ensembl.org/id/ENST00000375679 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0034707 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034707 GO_function GO:0005247 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005247 GO_function GO:0031404 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031404 GO_function GO:0046872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046872 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0007588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007588 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:1902476 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902476 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.10.3080.10 http://www.cathdb.info/version/latest/superfamily/1.10.3080.10 GeneCards CLCNKB http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CLCNKB GeneID 1188 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=1188 GeneTree ENSGT00760000119109 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119109 H-InvDB HIX0020336 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0020336 HGNC HGNC:2027 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:2027 HOGENOM HOG000231297 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231297&db=HOGENOM6 HOVERGEN HBG005332 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG005332&db=HOVERGEN HPA HPA057717 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA057717 InParanoid P51801 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P51801 IntAct P51801 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P51801* InterPro IPR000644 http://www.ebi.ac.uk/interpro/entry/IPR000644 InterPro IPR001807 http://www.ebi.ac.uk/interpro/entry/IPR001807 InterPro IPR002250 http://www.ebi.ac.uk/interpro/entry/IPR002250 InterPro IPR014743 http://www.ebi.ac.uk/interpro/entry/IPR014743 Jabion 1188 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=1188 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00239 http://www.genome.jp/dbget-bin/www_bget?H00239 KEGG_Gene hsa:1188 http://www.genome.jp/dbget-bin/www_bget?hsa:1188 KEGG_Orthology KO:K05018 http://www.genome.jp/dbget-bin/www_bget?KO:K05018 KEGG_Pathway ko04966 http://www.genome.jp/kegg-bin/show_pathway?ko04966 MIM 602023 http://www.ncbi.nlm.nih.gov/omim/602023 MIM 607364 http://www.ncbi.nlm.nih.gov/omim/607364 MIM 613090 http://www.ncbi.nlm.nih.gov/omim/613090 MINT MINT-7969230 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-7969230 OMA CQRIFFG http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=CQRIFFG Orphanet 358 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=358 Orphanet 89938 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=89938 Orphanet 93605 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=93605 OrthoDB EOG091G01RJ http://cegg.unige.ch/orthodb/results?searchtext=EOG091G01RJ PRINTS PR00762 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00762 PRINTS PR01119 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01119 PROSITE PS51371 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51371 PSORT swissprot:CLCKB_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CLCKB_HUMAN PSORT-B swissprot:CLCKB_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CLCKB_HUMAN PSORT2 swissprot:CLCKB_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CLCKB_HUMAN Pfam PF00571 http://pfam.xfam.org/family/PF00571 Pfam PF00654 http://pfam.xfam.org/family/PF00654 PharmGKB PA26554 http://www.pharmgkb.org/do/serve?objId=PA26554&objCls=Gene Phobius swissprot:CLCKB_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CLCKB_HUMAN PhylomeDB P51801 http://phylomedb.org/?seqid=P51801 ProteinModelPortal P51801 http://www.proteinmodelportal.org/query/uniprot/P51801 PubMed 11734858 http://www.ncbi.nlm.nih.gov/pubmed/11734858 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15044642 http://www.ncbi.nlm.nih.gov/pubmed/15044642 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 18310267 http://www.ncbi.nlm.nih.gov/pubmed/18310267 PubMed 8041726 http://www.ncbi.nlm.nih.gov/pubmed/8041726 PubMed 8544406 http://www.ncbi.nlm.nih.gov/pubmed/8544406 PubMed 9326936 http://www.ncbi.nlm.nih.gov/pubmed/9326936 Reactome R-HSA-2672351 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2672351 RefSeq NP_000076 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000076 RefSeq NP_001159417 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001159417 SMART SM00116 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00116 SMR P51801 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P51801 STRING 9606.ENSP00000364831 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000364831&targetmode=cogs SUPFAM SSF81340 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81340 UCSC uc001axx http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001axx&org=rat UniGene Hs.352243 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.352243 UniProtKB CLCKB_HUMAN http://www.uniprot.org/uniprot/CLCKB_HUMAN UniProtKB-AC P51801 http://www.uniprot.org/uniprot/P51801 charge swissprot:CLCKB_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CLCKB_HUMAN eggNOG COG0038 http://eggnogapi.embl.de/nog_data/html/tree/COG0038 eggNOG KOG0476 http://eggnogapi.embl.de/nog_data/html/tree/KOG0476 epestfind swissprot:CLCKB_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CLCKB_HUMAN garnier swissprot:CLCKB_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CLCKB_HUMAN helixturnhelix swissprot:CLCKB_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CLCKB_HUMAN hmoment swissprot:CLCKB_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CLCKB_HUMAN iep swissprot:CLCKB_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CLCKB_HUMAN inforesidue swissprot:CLCKB_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CLCKB_HUMAN neXtProt NX_P51801 http://www.nextprot.org/db/entry/NX_P51801 octanol swissprot:CLCKB_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CLCKB_HUMAN pepcoil swissprot:CLCKB_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CLCKB_HUMAN pepdigest swissprot:CLCKB_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CLCKB_HUMAN pepinfo swissprot:CLCKB_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CLCKB_HUMAN pepnet swissprot:CLCKB_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CLCKB_HUMAN pepstats swissprot:CLCKB_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CLCKB_HUMAN pepwheel swissprot:CLCKB_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CLCKB_HUMAN pepwindow swissprot:CLCKB_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CLCKB_HUMAN sigcleave swissprot:CLCKB_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CLCKB_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS KCMB3_HUMAN Event=Alternative splicing; Named isoforms=5; Name=1; Synonyms=3d; IsoId=Q9NPA1-1; Sequence=Displayed; Name=2; Synonyms=3a; IsoId=Q9NPA1-2; Sequence=VSP_009827; Name=3; Synonyms=3c; IsoId=Q9NPA1-3; Sequence=VSP_009828; Name=4; Synonyms=3b; IsoId=Q9NPA1-4; Sequence=VSP_009829, VSP_009830; Name=5; IsoId=Q9NPA1-5; Sequence=VSP_009827, VSP_046090, VSP_046091; Note=No experimental confirmation available.; # AltName KCMB3_HUMAN BK channel subunit beta-3 # AltName KCMB3_HUMAN Calcium-activated potassium channel, subfamily M subunit beta-3 # AltName KCMB3_HUMAN Charybdotoxin receptor subunit beta-3 # AltName KCMB3_HUMAN K(VCA)beta-3 # AltName KCMB3_HUMAN Maxi K channel subunit beta-3 # AltName KCMB3_HUMAN Slo-beta-3 # CCDS CCDS3225 -. [Q9NPA1-2] # CCDS CCDS3226 -. [Q9NPA1-1] # CCDS CCDS43172 -. [Q9NPA1-4] # CCDS CCDS43173 -. [Q9NPA1-3] # CCDS CCDS54683 -. [Q9NPA1-5] # DOMAIN KCMB3_HUMAN Isoform 4 cytoplasmic N-terminal domain participates in the partial inactivation of KCNMA1, possibly by binding to a receptor site. # DOMAIN KCMB3_HUMAN The extracellular domain forms gates to block ion permeation, providing a mechanism by which current can be rapidly diminished upon cellular repolarization. # DrugBank DB00721 Procaine # DrugBank DB01110 Miconazole # Ensembl ENST00000314235 ENSP00000319370; ENSG00000171121. [Q9NPA1-1] # Ensembl ENST00000349697 ENSP00000327866; ENSG00000171121. [Q9NPA1-2] # Ensembl ENST00000392685 ENSP00000376451; ENSG00000171121. [Q9NPA1-3] # Ensembl ENST00000392686 ENSP00000376452; ENSG00000171121. [Q9NPA1-4] # Ensembl ENST00000485523 ENSP00000418536; ENSG00000171121. [Q9NPA1-4] # Ensembl ENST00000497599 ENSP00000417091; ENSG00000171121. [Q9NPA1-5] # ExpressionAtlas Q9NPA1 baseline and differential # FUNCTION KCMB3_HUMAN Regulatory subunit of the calcium activated potassium KCNMA1 (maxiK) channel. Modulates the calcium sensitivity and gating kinetics of KCNMA1, thereby contributing to KCNMA1 channel diversity. Alters the functional properties of the current expressed by the KCNMA1 channel. Isoform 2, isoform 3 and isoform 4 partially inactivate the current of KCNBMA. Isoform 4 induces a fast and incomplete inactivation of KCNMA1 channel that is detectable only at large depolarizations. In contrast, isoform 1 does not induce detectable inactivation of KCNMA1. Two or more subunits of KCNMB3 are required to block the KCNMA1 tetramer. {ECO 0000269|PubMed 10766764, ECO 0000269|PubMed 10864947}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IDA:UniProtKB. # GO_component GO:0008076 voltage-gated potassium channel complex; IDA:UniProtKB. # GO_function GO:0015269 calcium-activated potassium channel activity; IDA:UniProtKB. # GO_function GO:0015459 potassium channel regulator activity; NAS:UniProtKB. # GO_process GO:0001508 action potential; IDA:UniProtKB. # GO_process GO:0005513 detection of calcium ion; IDA:UniProtKB. # GO_process GO:0006813 potassium ion transport; IDA:UniProtKB. # GO_process GO:0007268 chemical synaptic transmission; IBA:GO_Central. # GO_process GO:0019228 neuronal action potential; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # Genevisible Q9NPA1 HS # HGNC HGNC:6287 KCNMB3 # InterPro IPR003930 K_chnl_Ca-activ_BK_bsu # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04270 Vascular smooth muscle contraction # MIM 605222 gene # Organism KCMB3_HUMAN Homo sapiens (Human) # PANTHER PTHR10258 PTHR10258 # PTM KCMB3_HUMAN N-glycosylated. {ECO 0000269|PubMed 10792058}. # PTM KCMB3_HUMAN The extracellular domain contains disulfide bond essential for the gating mechanism. # Pfam PF03185 CaKB # Proteomes UP000005640 Chromosome 3 # Reactome R-HSA-1296052 Ca2+ activated K+ channels # Reactome R-HSA-418457 cGMP effects # RecName KCMB3_HUMAN Calcium-activated potassium channel subunit beta-3 # RefSeq NP_001157149 NM_001163677.1. [Q9NPA1-5] # RefSeq NP_055222 NM_014407.3. [Q9NPA1-1] # RefSeq NP_741979 NM_171828.2. [Q9NPA1-2] # RefSeq NP_741980 NM_171829.2. [Q9NPA1-4] # RefSeq NP_741981 NM_171830.1. [Q9NPA1-3] # SIMILARITY Belongs to the KCNMB (TC 8.A.14.1) family. KCNMB3 subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION KCMB3_HUMAN Membrane; Multi-pass membrane protein. # SUBUNIT Interacts with KCNMA1 tetramer. There are probably 4 molecules of KCMNB3 per KCNMA1 tetramer. {ECO:0000269|PubMed 10692449}. # TCDB 8.A.14.1 the ca(2+)-activated k(+) channel auxiliary subunit slowpoke-Beta (sloBeta) family # TISSUE SPECIFICITY KCMB3_HUMAN Isoform 1, isoform 3 and isoform 4 are widely expressed. Isoform 2 is expressed placenta, pancreas, kidney and heart. Isoform 1 and isoform 3 are highly expressed in pancreas and testis. {ECO 0000269|PubMed 10585773, ECO 0000269|PubMed 10692449, ECO 0000269|PubMed 10766764}. # UCSC uc003fjm human. [Q9NPA1-1] # eggNOG ENOG410IF7H Eukaryota # eggNOG ENOG410YQCT LUCA BLAST swissprot:KCMB3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCMB3_HUMAN COXPRESdb 27094 http://coxpresdb.jp/data/gene/27094.shtml CleanEx HS_KCNMB2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNMB2 CleanEx HS_KCNMB3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNMB3 DOI 10.1006/geno.1999.5975 http://dx.doi.org/10.1006/geno.1999.5975 DOI 10.1016/S0014-5793(00)01584-2 http://dx.doi.org/10.1016/S0014-5793(00)01584-2 DOI 10.1038/nature04728 http://dx.doi.org/10.1038/nature04728 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1038/nsb932 http://dx.doi.org/10.1038/nsb932 DOI 10.1073/pnas.100118597 http://dx.doi.org/10.1073/pnas.100118597 DOI 10.1074/jbc.275.9.6453 http://dx.doi.org/10.1074/jbc.275.9.6453 DOI 10.1074/jbc.M910187199 http://dx.doi.org/10.1074/jbc.M910187199 DOI 10.1085/jgp.117.6.583 http://dx.doi.org/10.1085/jgp.117.6.583 DOI 10.1085/jgp.117.6.607 http://dx.doi.org/10.1085/jgp.117.6.607 DOI 10.1152/nips.01387.2002 http://dx.doi.org/10.1152/nips.01387.2002 DOI 10.1152/physiolgenomics.00110.2003 http://dx.doi.org/10.1152/physiolgenomics.00110.2003 DrugBank DB00721 http://www.drugbank.ca/drugs/DB00721 DrugBank DB01110 http://www.drugbank.ca/drugs/DB01110 EMBL AC007823 http://www.ebi.ac.uk/ena/data/view/AC007823 EMBL AC076966 http://www.ebi.ac.uk/ena/data/view/AC076966 EMBL AF139471 http://www.ebi.ac.uk/ena/data/view/AF139471 EMBL AF160968 http://www.ebi.ac.uk/ena/data/view/AF160968 EMBL AF170916 http://www.ebi.ac.uk/ena/data/view/AF170916 EMBL AF204159 http://www.ebi.ac.uk/ena/data/view/AF204159 EMBL AF204160 http://www.ebi.ac.uk/ena/data/view/AF204160 EMBL AF204161 http://www.ebi.ac.uk/ena/data/view/AF204161 EMBL AF204162 http://www.ebi.ac.uk/ena/data/view/AF204162 EMBL AF214561 http://www.ebi.ac.uk/ena/data/view/AF214561 EMBL AK304837 http://www.ebi.ac.uk/ena/data/view/AK304837 EMBL CH471052 http://www.ebi.ac.uk/ena/data/view/CH471052 EMBL CH471052 http://www.ebi.ac.uk/ena/data/view/CH471052 Ensembl ENST00000314235 http://www.ensembl.org/id/ENST00000314235 Ensembl ENST00000349697 http://www.ensembl.org/id/ENST00000349697 Ensembl ENST00000392685 http://www.ensembl.org/id/ENST00000392685 Ensembl ENST00000392686 http://www.ensembl.org/id/ENST00000392686 Ensembl ENST00000485523 http://www.ensembl.org/id/ENST00000485523 Ensembl ENST00000497599 http://www.ensembl.org/id/ENST00000497599 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0008076 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008076 GO_function GO:0015269 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015269 GO_function GO:0015459 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015459 GO_process GO:0001508 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001508 GO_process GO:0005513 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005513 GO_process GO:0006813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006813 GO_process GO:0007268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007268 GO_process GO:0019228 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019228 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GeneCards KCNMB3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNMB3 GeneID 27094 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=27094 GeneTree ENSGT00390000015997 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000015997 HGNC HGNC:6287 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6287 HOGENOM HOG000290180 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000290180&db=HOGENOM6 HOVERGEN HBG108059 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG108059&db=HOVERGEN HPA HPA015665 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA015665 HPA HPA019185 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA019185 InParanoid Q9NPA1 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9NPA1 InterPro IPR003930 http://www.ebi.ac.uk/interpro/entry/IPR003930 Jabion 27094 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=27094 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:27094 http://www.genome.jp/dbget-bin/www_bget?hsa:27094 KEGG_Orthology KO:K04939 http://www.genome.jp/dbget-bin/www_bget?KO:K04939 KEGG_Pathway ko04270 http://www.genome.jp/kegg-bin/show_pathway?ko04270 MIM 605222 http://www.ncbi.nlm.nih.gov/omim/605222 OMA KPFMLST http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=KPFMLST OrthoDB EOG091G0MVO http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0MVO PANTHER PTHR10258 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10258 PSORT swissprot:KCMB3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCMB3_HUMAN PSORT-B swissprot:KCMB3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCMB3_HUMAN PSORT2 swissprot:KCMB3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCMB3_HUMAN Pfam PF03185 http://pfam.xfam.org/family/PF03185 PharmGKB PA30067 http://www.pharmgkb.org/do/serve?objId=PA30067&objCls=Gene Phobius swissprot:KCMB3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCMB3_HUMAN PhylomeDB Q9NPA1 http://phylomedb.org/?seqid=Q9NPA1 ProteinModelPortal Q9NPA1 http://www.proteinmodelportal.org/query/uniprot/Q9NPA1 PubMed 10585773 http://www.ncbi.nlm.nih.gov/pubmed/10585773 PubMed 10692449 http://www.ncbi.nlm.nih.gov/pubmed/10692449 PubMed 10766764 http://www.ncbi.nlm.nih.gov/pubmed/10766764 PubMed 10792058 http://www.ncbi.nlm.nih.gov/pubmed/10792058 PubMed 10828459 http://www.ncbi.nlm.nih.gov/pubmed/10828459 PubMed 10864947 http://www.ncbi.nlm.nih.gov/pubmed/10864947 PubMed 11382808 http://www.ncbi.nlm.nih.gov/pubmed/11382808 PubMed 11382809 http://www.ncbi.nlm.nih.gov/pubmed/11382809 PubMed 12136044 http://www.ncbi.nlm.nih.gov/pubmed/12136044 PubMed 12740608 http://www.ncbi.nlm.nih.gov/pubmed/12740608 PubMed 14612589 http://www.ncbi.nlm.nih.gov/pubmed/14612589 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 16641997 http://www.ncbi.nlm.nih.gov/pubmed/16641997 Reactome R-HSA-1296052 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1296052 Reactome R-HSA-418457 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-418457 RefSeq NP_001157149 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001157149 RefSeq NP_055222 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_055222 RefSeq NP_741979 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_741979 RefSeq NP_741980 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_741980 RefSeq NP_741981 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_741981 SMR Q9NPA1 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9NPA1 STRING 9606.ENSP00000319370 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000319370&targetmode=cogs TCDB 8.A.14.1 http://www.tcdb.org/search/result.php?tc=8.A.14.1 UCSC uc003fjm http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003fjm&org=rat UniGene Hs.591285 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.591285 UniProtKB KCMB3_HUMAN http://www.uniprot.org/uniprot/KCMB3_HUMAN UniProtKB-AC Q9NPA1 http://www.uniprot.org/uniprot/Q9NPA1 charge swissprot:KCMB3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCMB3_HUMAN eggNOG ENOG410IF7H http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IF7H eggNOG ENOG410YQCT http://eggnogapi.embl.de/nog_data/html/tree/ENOG410YQCT epestfind swissprot:KCMB3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCMB3_HUMAN garnier swissprot:KCMB3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCMB3_HUMAN helixturnhelix swissprot:KCMB3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCMB3_HUMAN hmoment swissprot:KCMB3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCMB3_HUMAN iep swissprot:KCMB3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCMB3_HUMAN inforesidue swissprot:KCMB3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCMB3_HUMAN neXtProt NX_Q9NPA1 http://www.nextprot.org/db/entry/NX_Q9NPA1 octanol swissprot:KCMB3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCMB3_HUMAN pepcoil swissprot:KCMB3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCMB3_HUMAN pepdigest swissprot:KCMB3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCMB3_HUMAN pepinfo swissprot:KCMB3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCMB3_HUMAN pepnet swissprot:KCMB3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCMB3_HUMAN pepstats swissprot:KCMB3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCMB3_HUMAN pepwheel swissprot:KCMB3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCMB3_HUMAN pepwindow swissprot:KCMB3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCMB3_HUMAN sigcleave swissprot:KCMB3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCMB3_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS AT134_HUMAN Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q4VNC1-1; Sequence=Displayed; Name=2; IsoId=Q4VNC1-2; Sequence=VSP_031261; Note=Dubious isoform lacking mature mRNA evidence.; Name=3; IsoId=Q4VNC1-3; Sequence=VSP_031259, VSP_031260; Note=No experimental confirmation available.; Name=4; IsoId=Q4VNC1-4; Sequence=VSP_031258; Note=No experimental confirmation available.; # AltName AT134_HUMAN P5-ATPase isoform 4 # CATALYTIC ACTIVITY AT134_HUMAN ATP + H(2)O = ADP + phosphate. # CCDS CCDS3304 -. [Q4VNC1-1] # DISEASE AT134_HUMAN Note=A chromosomal aberration involving ATP13A4 is found in 2 patients with specific language impairment (SLI) disorders. Paracentric inversion inv(3)(q25;q29). The inversion produces a disruption of the protein. {ECO 0000269|PubMed 15925480}. # Ensembl ENST00000295548 ENSP00000295548; ENSG00000127249. [Q4VNC1-3] # Ensembl ENST00000342695 ENSP00000339182; ENSG00000127249. [Q4VNC1-1] # Ensembl ENST00000400270 ENSP00000383129; ENSG00000127249. [Q4VNC1-4] # ExpressionAtlas Q4VNC1 baseline and differential # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0043231 intracellular membrane-bounded organelle; IBA:GO_Central. # GO_function GO:0005524 ATP binding; IEA:UniProtKB-KW. # GO_function GO:0019829 cation-transporting ATPase activity; IBA:GO_Central. # GO_function GO:0046872 metal ion binding; IEA:UniProtKB-KW. # GO_process GO:0006874 cellular calcium ion homeostasis; IBA:GO_Central. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 2.70.150.10 -; 1. # Gene3D 3.40.1110.10 -; 1. # Gene3D 3.40.50.1000 -; 2. # Genevisible Q4VNC1 HS # HGNC HGNC:25422 ATP13A4 # INDUCTION Decreased by half in the SLI patient lymphoblasts. {ECO:0000269|PubMed 15925480}. # InterPro IPR001757 P_typ_ATPase # InterPro IPR004014 ATPase_P-typ_cation-transptr_N # InterPro IPR006544 P-type_TPase_V # InterPro IPR008250 ATPase_P-typ_transduc_dom_A # InterPro IPR018303 ATPase_P-typ_P_site # InterPro IPR023214 HAD-like_dom # InterPro IPR023299 ATPase_P-typ_cyto_domN # KEGG_Brite ko01000 Enzymes # MIM 609556 gene # Organism AT134_HUMAN Homo sapiens (Human) # PROSITE PS00154 ATPASE_E1_E2 # Pfam PF00122 E1-E2_ATPase # Pfam PF00690 Cation_ATPase_N # Pfam PF12409 P5-ATPase # Proteomes UP000005640 Chromosome 3 # Reactome R-HSA-936837 Ion transport by P-type ATPases # RecName AT134_HUMAN Probable cation-transporting ATPase 13A4 # RefSeq NP_115655 NM_032279.3. [Q4VNC1-1] # SEQUENCE CAUTION Sequence=CAC21667.2; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type V subfamily. {ECO 0000305}. # SMART SM00831 Cation_ATPase_N # SUBCELLULAR LOCATION AT134_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # SUPFAM SSF56784 SSF56784; 3 # SUPFAM SSF81660 SSF81660 # TIGRFAMs TIGR01494 ATPase_P-type; 3 # TIGRFAMs TIGR01657 P-ATPase-V # TISSUE SPECIFICITY Expressed in heart, placenta, liver, skeletal muscles, and pancreas. Lower levels of expression are also detected in brain, lung and kidney. Weakly expressed in the adult brain. Expression in fetal brain is higher than in adult brain, with levels similar to several other fetal tissues including spleen and skeletal muscle. In adult brain expressed at low levels in all tissues examined, including the temporal lobe and putamen. {ECO:0000269|PubMed 15925480}. # UCSC uc003ftd human. [Q4VNC1-1] # eggNOG ENOG410XRCA LUCA # eggNOG KOG0208 Eukaryota BLAST swissprot:AT134_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:AT134_HUMAN COXPRESdb 84239 http://coxpresdb.jp/data/gene/84239.shtml CleanEx HS_ATP13A4 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ATP13A4 DOI 10.1016/j.ygeno.2005.04.002 http://dx.doi.org/10.1016/j.ygeno.2005.04.002 DOI 10.1038/nature04728 http://dx.doi.org/10.1038/nature04728 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.1293003 http://dx.doi.org/10.1101/gr.1293003 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 EC_number EC:3.6.3.- http://www.genome.jp/dbget-bin/www_bget?EC:3.6.3.- EMBL AC048351 http://www.ebi.ac.uk/ena/data/view/AC048351 EMBL AC092942 http://www.ebi.ac.uk/ena/data/view/AC092942 EMBL AC105057 http://www.ebi.ac.uk/ena/data/view/AC105057 EMBL AK095277 http://www.ebi.ac.uk/ena/data/view/AK095277 EMBL AL512736 http://www.ebi.ac.uk/ena/data/view/AL512736 EMBL AY358110 http://www.ebi.ac.uk/ena/data/view/AY358110 EMBL AY823162 http://www.ebi.ac.uk/ena/data/view/AY823162 EMBL BC101496 http://www.ebi.ac.uk/ena/data/view/BC101496 ENZYME 3.6.3.- http://enzyme.expasy.org/EC/3.6.3.- Ensembl ENST00000295548 http://www.ensembl.org/id/ENST00000295548 Ensembl ENST00000342695 http://www.ensembl.org/id/ENST00000342695 Ensembl ENST00000400270 http://www.ensembl.org/id/ENST00000400270 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0043231 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043231 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0019829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019829 GO_function GO:0046872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046872 GO_process GO:0006874 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006874 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 2.70.150.10 http://www.cathdb.info/version/latest/superfamily/2.70.150.10 Gene3D 3.40.1110.10 http://www.cathdb.info/version/latest/superfamily/3.40.1110.10 Gene3D 3.40.50.1000 http://www.cathdb.info/version/latest/superfamily/3.40.50.1000 GeneCards ATP13A4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ATP13A4 GeneID 84239 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=84239 GeneTree ENSGT00530000063001 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000063001 HGNC HGNC:25422 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:25422 HOGENOM HOG000171813 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000171813&db=HOGENOM6 HOVERGEN HBG065757 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG065757&db=HOVERGEN HPA HPA051932 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA051932 InParanoid Q4VNC1 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q4VNC1 IntAct Q4VNC1 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q4VNC1* IntEnz 3.6.3 http://www.ebi.ac.uk/intenz/query?cmd=Search&q=3.6.3 InterPro IPR001757 http://www.ebi.ac.uk/interpro/entry/IPR001757 InterPro IPR004014 http://www.ebi.ac.uk/interpro/entry/IPR004014 InterPro IPR006544 http://www.ebi.ac.uk/interpro/entry/IPR006544 InterPro IPR008250 http://www.ebi.ac.uk/interpro/entry/IPR008250 InterPro IPR018303 http://www.ebi.ac.uk/interpro/entry/IPR018303 InterPro IPR023214 http://www.ebi.ac.uk/interpro/entry/IPR023214 InterPro IPR023299 http://www.ebi.ac.uk/interpro/entry/IPR023299 Jabion 84239 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=84239 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Gene hsa:84239 http://www.genome.jp/dbget-bin/www_bget?hsa:84239 KEGG_Orthology KO:K14951 http://www.genome.jp/dbget-bin/www_bget?KO:K14951 MIM 609556 http://www.ncbi.nlm.nih.gov/omim/609556 OMA GALEDHH http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=GALEDHH OrthoDB EOG091G01IL http://cegg.unige.ch/orthodb/results?searchtext=EOG091G01IL PROSITE PS00154 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00154 PSORT swissprot:AT134_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:AT134_HUMAN PSORT-B swissprot:AT134_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:AT134_HUMAN PSORT2 swissprot:AT134_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:AT134_HUMAN Pfam PF00122 http://pfam.xfam.org/family/PF00122 Pfam PF00690 http://pfam.xfam.org/family/PF00690 Pfam PF12409 http://pfam.xfam.org/family/PF12409 PharmGKB PA134979581 http://www.pharmgkb.org/do/serve?objId=PA134979581&objCls=Gene Phobius swissprot:AT134_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:AT134_HUMAN PhylomeDB Q4VNC1 http://phylomedb.org/?seqid=Q4VNC1 ProteinModelPortal Q4VNC1 http://www.proteinmodelportal.org/query/uniprot/Q4VNC1 PubMed 12975309 http://www.ncbi.nlm.nih.gov/pubmed/12975309 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15925480 http://www.ncbi.nlm.nih.gov/pubmed/15925480 PubMed 16641997 http://www.ncbi.nlm.nih.gov/pubmed/16641997 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 Reactome R-HSA-936837 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-936837 RefSeq NP_115655 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_115655 SMART SM00831 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00831 STRING 9606.ENSP00000339182 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000339182&targetmode=cogs SUPFAM SSF56784 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF56784 SUPFAM SSF81660 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81660 TIGRFAMs TIGR01494 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01494 TIGRFAMs TIGR01657 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01657 UCSC uc003ftd http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003ftd&org=rat UniGene Hs.674423 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.674423 UniProtKB AT134_HUMAN http://www.uniprot.org/uniprot/AT134_HUMAN UniProtKB-AC Q4VNC1 http://www.uniprot.org/uniprot/Q4VNC1 charge swissprot:AT134_HUMAN http://rest.g-language.org/emboss/charge/swissprot:AT134_HUMAN eggNOG ENOG410XRCA http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XRCA eggNOG KOG0208 http://eggnogapi.embl.de/nog_data/html/tree/KOG0208 epestfind swissprot:AT134_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:AT134_HUMAN garnier swissprot:AT134_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:AT134_HUMAN helixturnhelix swissprot:AT134_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:AT134_HUMAN hmoment swissprot:AT134_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:AT134_HUMAN iep swissprot:AT134_HUMAN http://rest.g-language.org/emboss/iep/swissprot:AT134_HUMAN inforesidue swissprot:AT134_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:AT134_HUMAN neXtProt NX_Q4VNC1 http://www.nextprot.org/db/entry/NX_Q4VNC1 octanol swissprot:AT134_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:AT134_HUMAN pepcoil swissprot:AT134_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:AT134_HUMAN pepdigest swissprot:AT134_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:AT134_HUMAN pepinfo swissprot:AT134_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:AT134_HUMAN pepnet swissprot:AT134_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:AT134_HUMAN pepstats swissprot:AT134_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:AT134_HUMAN pepwheel swissprot:AT134_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:AT134_HUMAN pepwindow swissprot:AT134_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:AT134_HUMAN sigcleave swissprot:AT134_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:AT134_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS XPO2_HUMAN Event=Alternative splicing; Named isoforms=4; Name=1; Synonyms=A; IsoId=P55060-1; Sequence=Displayed; Name=2; IsoId=P55060-2; Sequence=VSP_001222, VSP_001223; Name=3; IsoId=P55060-3; Sequence=VSP_001224, VSP_001225; Name=4; IsoId=P55060-4; Sequence=VSP_047203; Note=No experimental confirmation available.; # AltName XPO2_HUMAN Cellular apoptosis susceptibility protein # AltName XPO2_HUMAN Chromosome segregation 1-like protein # AltName XPO2_HUMAN Importin-alpha re-exporter # BioGrid 107821 109 # CCDS CCDS13412 -. [P55060-1] # CCDS CCDS58773 -. [P55060-4] # ChiTaRS CSE1L human # Ensembl ENST00000262982 ENSP00000262982; ENSG00000124207. [P55060-1] # Ensembl ENST00000396192 ENSP00000379495; ENSG00000124207. [P55060-4] # FUNCTION XPO2_HUMAN Export receptor for importin-alpha. Mediates importin- alpha re-export from the nucleus to the cytoplasm after import substrates (cargos) have been released into the nucleoplasm. In the nucleus binds cooperatively to importin-alpha and to the GTPase Ran in its active GTP-bound form. Docking of this trimeric complex to the nuclear pore complex (NPC) is mediated through binding to nucleoporins. Upon transit of a nuclear export complex into the cytoplasm, disassembling of the complex and hydrolysis of Ran-GTP to Ran-GDP (induced by RANBP1 and RANGAP1, respectively) cause release of the importin-alpha from the export receptor. CSE1L/XPO2 then return to the nuclear compartment and mediate another round of transport. The directionality of nuclear export is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. {ECO 0000269|PubMed 9323134}. # GO_component GO:0005634 nucleus; TAS:ProtInc. # GO_component GO:0005635 nuclear envelope; IBA:GO_Central. # GO_component GO:0005654 nucleoplasm; IDA:HPA. # GO_component GO:0005737 cytoplasm; IDA:HPA. # GO_component GO:0005829 cytosol; IBA:GO_Central. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0005049 nuclear export signal receptor activity; TAS:ProtInc. # GO_process GO:0006606 protein import into nucleus; IBA:GO_Central. # GO_process GO:0006915 apoptotic process; TAS:ProtInc. # GO_process GO:0008283 cell proliferation; TAS:ProtInc. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005635 nuclear envelope # GOslim_component GO:0005654 nucleoplasm # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005829 cytosol # GOslim_component GO:0043226 organelle # GOslim_function GO:0008565 protein transporter activity # GOslim_process GO:0006913 nucleocytoplasmic transport # GOslim_process GO:0008219 cell death # GOslim_process GO:0008283 cell proliferation # Gene3D 1.25.10.10 -; 2. # Genevisible P55060 HS # HGNC HGNC:2431 CSE1L # INTERACTION XPO2_HUMAN P04637 TP53; NbExp=5; IntAct=EBI-286709, EBI-366083; # IntAct P55060 36 # InterPro IPR001494 Importin-beta_N # InterPro IPR005043 CAS_CSE1_C # InterPro IPR011989 ARM-like # InterPro IPR013713 Cse1 # InterPro IPR016024 ARM-type_fold # MIM 601342 gene # Organism XPO2_HUMAN Homo sapiens (Human) # PIR I39166 I39166 # PROSITE PS50166 IMPORTIN_B_NT # Pfam PF03378 CAS_CSE1 # Pfam PF03810 IBN_N # Pfam PF08506 Cse1 # Proteomes UP000005640 Chromosome 20 # RecName XPO2_HUMAN Exportin-2 # RefSeq NP_001243064 NM_001256135.1. [P55060-4] # RefSeq NP_001307 NM_001316.3. [P55060-1] # RefSeq XP_011526901 XM_011528599.2. [P55060-3] # SIMILARITY Belongs to the XPO2/CSE1 family. {ECO 0000305}. # SIMILARITY Contains 1 importin N-terminal domain. {ECO:0000255|PROSITE-ProRule PRU00115}. # SMART SM00913 IBN_N # SUBCELLULAR LOCATION XPO2_HUMAN Cytoplasm. Nucleus. Note=Shuttles between the nucleus and the cytoplasm. # SUBUNIT Found in a complex with CSE1L/XPO2, Ran and KPNA2. Binds with high affinity to importin-alpha only in the presence of RanGTP. The complex is dissociated by the combined action of RanBP1 and RanGAP1. {ECO:0000269|PubMed 9323134}. # SUPFAM SSF48371 SSF48371 # TCDB 1.I.1.1 the nuclear pore complex (npc) family # TISSUE SPECIFICITY XPO2_HUMAN Highly expressed in proliferating cells. # UCSC uc002xty human. [P55060-1] # WEB RESOURCE XPO2_HUMAN Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http //atlasgeneticsoncology.org/Genes/CSE1LID40159ch20q13.html"; # eggNOG COG5657 LUCA # eggNOG KOG1992 Eukaryota BLAST swissprot:XPO2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:XPO2_HUMAN BioCyc ZFISH:ENSG00000124207-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000124207-MONOMER COXPRESdb 1434 http://coxpresdb.jp/data/gene/1434.shtml CleanEx HS_CSE1L http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CSE1L DIP DIP-32573N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-32573N DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1006/geno.1998.5700 http://dx.doi.org/10.1006/geno.1998.5700 DOI 10.1006/mcbr.2001.0303 http://dx.doi.org/10.1006/mcbr.2001.0303 DOI 10.1016/S0092-8674(00)80372-4 http://dx.doi.org/10.1016/S0092-8674(00)80372-4 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/ac9004309 http://dx.doi.org/10.1021/ac9004309 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/414865a http://dx.doi.org/10.1038/414865a DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.1210303109 http://dx.doi.org/10.1073/pnas.1210303109 DOI 10.1073/pnas.92.22.10427 http://dx.doi.org/10.1073/pnas.92.22.10427 DOI 10.1074/mcp.M111.015131 http://dx.doi.org/10.1074/mcp.M111.015131 DOI 10.1083/jcb.143.2.309 http://dx.doi.org/10.1083/jcb.143.2.309 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1133427 http://dx.doi.org/10.1126/science.1133427 DOI 10.1126/science.1175371 http://dx.doi.org/10.1126/science.1175371 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AF053640 http://www.ebi.ac.uk/ena/data/view/AF053640 EMBL AF053641 http://www.ebi.ac.uk/ena/data/view/AF053641 EMBL AF053642 http://www.ebi.ac.uk/ena/data/view/AF053642 EMBL AF053644 http://www.ebi.ac.uk/ena/data/view/AF053644 EMBL AF053645 http://www.ebi.ac.uk/ena/data/view/AF053645 EMBL AF053646 http://www.ebi.ac.uk/ena/data/view/AF053646 EMBL AF053647 http://www.ebi.ac.uk/ena/data/view/AF053647 EMBL AF053648 http://www.ebi.ac.uk/ena/data/view/AF053648 EMBL AF053649 http://www.ebi.ac.uk/ena/data/view/AF053649 EMBL AF053650 http://www.ebi.ac.uk/ena/data/view/AF053650 EMBL AF053651 http://www.ebi.ac.uk/ena/data/view/AF053651 EMBL AK312306 http://www.ebi.ac.uk/ena/data/view/AK312306 EMBL AL121903 http://www.ebi.ac.uk/ena/data/view/AL121903 EMBL AL121903 http://www.ebi.ac.uk/ena/data/view/AL121903 EMBL AL133174 http://www.ebi.ac.uk/ena/data/view/AL133174 EMBL AL133174 http://www.ebi.ac.uk/ena/data/view/AL133174 EMBL BC108309 http://www.ebi.ac.uk/ena/data/view/BC108309 EMBL BC109313 http://www.ebi.ac.uk/ena/data/view/BC109313 EMBL BC109314 http://www.ebi.ac.uk/ena/data/view/BC109314 EMBL CH471077 http://www.ebi.ac.uk/ena/data/view/CH471077 EMBL CH471077 http://www.ebi.ac.uk/ena/data/view/CH471077 EMBL EF426455 http://www.ebi.ac.uk/ena/data/view/EF426455 EMBL U33286 http://www.ebi.ac.uk/ena/data/view/U33286 Ensembl ENST00000262982 http://www.ensembl.org/id/ENST00000262982 Ensembl ENST00000396192 http://www.ensembl.org/id/ENST00000396192 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005635 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005635 GO_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0005049 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005049 GO_process GO:0006606 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006606 GO_process GO:0006915 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006915 GO_process GO:0008283 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008283 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_component GO:0005635 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005635 GOslim_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_process GO:0006913 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006913 GOslim_process GO:0008219 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008219 GOslim_process GO:0008283 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008283 Gene3D 1.25.10.10 http://www.cathdb.info/version/latest/superfamily/1.25.10.10 GeneCards CSE1L http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CSE1L GeneID 1434 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=1434 GeneTree ENSGT00550000074884 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074884 HGNC HGNC:2431 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:2431 HOVERGEN HBG080050 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG080050&db=HOVERGEN HPA CAB002140 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB002140 HPA HPA038059 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA038059 HPA HPA038060 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA038060 InParanoid P55060 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P55060 IntAct P55060 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P55060* InterPro IPR001494 http://www.ebi.ac.uk/interpro/entry/IPR001494 InterPro IPR005043 http://www.ebi.ac.uk/interpro/entry/IPR005043 InterPro IPR011989 http://www.ebi.ac.uk/interpro/entry/IPR011989 InterPro IPR013713 http://www.ebi.ac.uk/interpro/entry/IPR013713 InterPro IPR016024 http://www.ebi.ac.uk/interpro/entry/IPR016024 Jabion 1434 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=1434 KEGG_Gene hsa:1434 http://www.genome.jp/dbget-bin/www_bget?hsa:1434 MIM 601342 http://www.ncbi.nlm.nih.gov/omim/601342 MINT MINT-5001090 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-5001090 OMA SGQVEKK http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=SGQVEKK OrthoDB EOG091G01TH http://cegg.unige.ch/orthodb/results?searchtext=EOG091G01TH PROSITE PS50166 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50166 PSORT swissprot:XPO2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:XPO2_HUMAN PSORT-B swissprot:XPO2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:XPO2_HUMAN PSORT2 swissprot:XPO2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:XPO2_HUMAN Pfam PF03378 http://pfam.xfam.org/family/PF03378 Pfam PF03810 http://pfam.xfam.org/family/PF03810 Pfam PF08506 http://pfam.xfam.org/family/PF08506 PharmGKB PA26933 http://www.pharmgkb.org/do/serve?objId=PA26933&objCls=Gene Phobius swissprot:XPO2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:XPO2_HUMAN PhylomeDB P55060 http://phylomedb.org/?seqid=P55060 ProteinModelPortal P55060 http://www.proteinmodelportal.org/query/uniprot/P55060 PubMed 10331944 http://www.ncbi.nlm.nih.gov/pubmed/10331944 PubMed 11703094 http://www.ncbi.nlm.nih.gov/pubmed/11703094 PubMed 11780052 http://www.ncbi.nlm.nih.gov/pubmed/11780052 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16959974 http://www.ncbi.nlm.nih.gov/pubmed/16959974 PubMed 19413330 http://www.ncbi.nlm.nih.gov/pubmed/19413330 PubMed 19608861 http://www.ncbi.nlm.nih.gov/pubmed/19608861 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 22223895 http://www.ncbi.nlm.nih.gov/pubmed/22223895 PubMed 22814378 http://www.ncbi.nlm.nih.gov/pubmed/22814378 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 7479798 http://www.ncbi.nlm.nih.gov/pubmed/7479798 PubMed 9323134 http://www.ncbi.nlm.nih.gov/pubmed/9323134 PubMed 9786944 http://www.ncbi.nlm.nih.gov/pubmed/9786944 RefSeq NP_001243064 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001243064 RefSeq NP_001307 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001307 RefSeq XP_011526901 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011526901 SMART SM00913 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00913 SMR P55060 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P55060 STRING 9606.ENSP00000262982 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000262982&targetmode=cogs SUPFAM SSF48371 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48371 TCDB 1.I.1.1 http://www.tcdb.org/search/result.php?tc=1.I.1.1 UCSC uc002xty http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002xty&org=rat UniGene Hs.90073 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.90073 UniProtKB XPO2_HUMAN http://www.uniprot.org/uniprot/XPO2_HUMAN UniProtKB-AC P55060 http://www.uniprot.org/uniprot/P55060 charge swissprot:XPO2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:XPO2_HUMAN eggNOG COG5657 http://eggnogapi.embl.de/nog_data/html/tree/COG5657 eggNOG KOG1992 http://eggnogapi.embl.de/nog_data/html/tree/KOG1992 epestfind swissprot:XPO2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:XPO2_HUMAN garnier swissprot:XPO2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:XPO2_HUMAN helixturnhelix swissprot:XPO2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:XPO2_HUMAN hmoment swissprot:XPO2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:XPO2_HUMAN iep swissprot:XPO2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:XPO2_HUMAN inforesidue swissprot:XPO2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:XPO2_HUMAN neXtProt NX_P55060 http://www.nextprot.org/db/entry/NX_P55060 octanol swissprot:XPO2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:XPO2_HUMAN pepcoil swissprot:XPO2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:XPO2_HUMAN pepdigest swissprot:XPO2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:XPO2_HUMAN pepinfo swissprot:XPO2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:XPO2_HUMAN pepnet swissprot:XPO2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:XPO2_HUMAN pepstats swissprot:XPO2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:XPO2_HUMAN pepwheel swissprot:XPO2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:XPO2_HUMAN pepwindow swissprot:XPO2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:XPO2_HUMAN sigcleave swissprot:XPO2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:XPO2_HUMAN ## Database ID URL or Descriptions # AltName XPO1_HUMAN Chromosome region maintenance 1 protein homolog # BioGrid 113348 1229 # ChiTaRS XPO1 human # Ensembl ENST00000401558 ENSP00000384863; ENSG00000082898 # Ensembl ENST00000404992 ENSP00000385942; ENSG00000082898 # Ensembl ENST00000406957 ENSP00000385559; ENSG00000082898 # ExpressionAtlas O14980 baseline and differential # FUNCTION XPO1_HUMAN Mediates the nuclear export of cellular proteins (cargos) bearing a leucine-rich nuclear export signal (NES) and of RNAs. In the nucleus, in association with RANBP3, binds cooperatively to the NES on its target protein and to the GTPase RAN in its active GTP-bound form (Ran-GTP). Docking of this complex to the nuclear pore complex (NPC) is mediated through binding to nucleoporins. Upon transit of a nuclear export complex into the cytoplasm, disassembling of the complex and hydrolysis of Ran-GTP to Ran-GDP (induced by RANBP1 and RANGAP1, respectively) cause release of the cargo from the export receptor. The directionality of nuclear export is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. Involved in U3 snoRNA transport from Cajal bodies to nucleoli. Binds to late precursor U3 snoRNA bearing a TMG cap. Several viruses, among them HIV-1, HTLV-1 and influenza A use it to export their unspliced or incompletely spliced RNAs out of the nucleus. Interacts with, and mediates the nuclear export of HIV-1 Rev and HTLV-1 Rex proteins. Involved in HTLV-1 Rex multimerization. {ECO 0000269|PubMed 14612415, ECO 0000269|PubMed 15574332, ECO 0000269|PubMed 20921223, ECO 0000269|PubMed 9311922, ECO 0000269|PubMed 9323133, ECO 0000269|PubMed 9837918}. # GO_component GO:0000776 kinetochore; IDA:UniProtKB. # GO_component GO:0005634 nucleus; IDA:HPA. # GO_component GO:0005635 nuclear envelope; TAS:ProtInc. # GO_component GO:0005642 annulate lamellae; IDA:UniProtKB. # GO_component GO:0005654 nucleoplasm; TAS:Reactome. # GO_component GO:0005730 nucleolus; IEA:UniProtKB-SubCell. # GO_component GO:0005737 cytoplasm; IDA:HPA. # GO_component GO:0005829 cytosol; TAS:Reactome. # GO_component GO:0015030 Cajal body; IEA:UniProtKB-SubCell. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0030529 intracellular ribonucleoprotein complex; IDA:MGI. # GO_component GO:0031965 nuclear membrane; IDA:HPA. # GO_component GO:0043231 intracellular membrane-bounded organelle; IDA:HPA. # GO_function GO:0003723 RNA binding; IEA:UniProtKB-KW. # GO_function GO:0005049 nuclear export signal receptor activity; IBA:GO_Central. # GO_function GO:0005215 transporter activity; TAS:Reactome. # GO_function GO:0005487 nucleocytoplasmic transporter activity; IMP:ParkinsonsUK-UCL. # GO_process GO:0000055 ribosomal large subunit export from nucleus; IMP:ParkinsonsUK-UCL. # GO_process GO:0000056 ribosomal small subunit export from nucleus; IMP:ParkinsonsUK-UCL. # GO_process GO:0000122 negative regulation of transcription from RNA polymerase II promoter; IEA:Ensembl. # GO_process GO:0006611 protein export from nucleus; IDA:GO_Central. # GO_process GO:0007062 sister chromatid cohesion; TAS:Reactome. # GO_process GO:0010824 regulation of centrosome duplication; IEA:Ensembl. # GO_process GO:0016032 viral process; TAS:Reactome. # GO_process GO:0034504 protein localization to nucleus; IEA:Ensembl. # GO_process GO:0042176 regulation of protein catabolic process; IEA:Ensembl. # GO_process GO:0042493 response to drug; IEA:Ensembl. # GO_process GO:0043488 regulation of mRNA stability; TAS:Reactome. # GO_process GO:0046825 regulation of protein export from nucleus; IBA:GO_Central. # GO_process GO:0051028 mRNA transport; IEA:UniProtKB-KW. # GO_process GO:0075733 intracellular transport of virus; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005635 nuclear envelope # GOslim_component GO:0005654 nucleoplasm # GOslim_component GO:0005730 nucleolus # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005829 cytosol # GOslim_component GO:0043226 organelle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0003723 RNA binding # GOslim_function GO:0008565 protein transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0006913 nucleocytoplasmic transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0044403 symbiosis, encompassing mutualism through parasitism # GOslim_process GO:0051276 chromosome organization # Gene3D 1.25.10.10 -; 3. # Genevisible O14980 HS # HGNC HGNC:12825 XPO1 # INTERACTION XPO1_HUMAN Q9WMX2 - (xeno); NbExp=3; IntAct=EBI-355867, EBI-710918; O15392 BIRC5; NbExp=2; IntAct=EBI-355867, EBI-518823; P04626 ERBB2; NbExp=2; IntAct=EBI-355867, EBI-641062; P35232 PHB; NbExp=2; IntAct=EBI-355867, EBI-354213; P61925 PKIA; NbExp=2; IntAct=EBI-355867, EBI-2682139; P63104 YWHAZ; NbExp=2; IntAct=EBI-355867, EBI-347088; # IntAct O14980 56 # InterPro IPR001494 Importin-beta_N # InterPro IPR011989 ARM-like # InterPro IPR013598 Exportin-1/Importin-b-like # InterPro IPR014877 CRM1_C_dom # InterPro IPR016024 ARM-type_fold # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko03009 Ribosome biogenesis # KEGG_Brite ko03016 Transfer RNA biogenesis # KEGG_Brite ko03036 Chromosome # KEGG_Pathway ko03008 Ribosome biogenesis in eukaryotes # KEGG_Pathway ko03013 RNA transport # KEGG_Pathway ko05164 Influenza A # KEGG_Pathway ko05166 HTLV-I infection # KEGG_Pathway ko05169 Epstein-Barr virus infection # MIM 602559 gene # MISCELLANEOUS XPO1_HUMAN Cellular target of leptomycin B (LMB), a XPO1/CRM1 nuclear export inhibitor. # Organism XPO1_HUMAN Homo sapiens (Human) # PDB 1W9C X-ray; 2.30 A; A/B=707-1027 # PDB 2L1L NMR; -; B=504-630 # PDB 3GB8 X-ray; 2.90 A; A=1-1071 # PDB 4BSM X-ray; 4.50 A; A=1-1032 # PDB 4BSN X-ray; 4.10 A; A=1-1032 # PDB 5DIS X-ray; 2.85 A; A=5-1048 # PROSITE PS50166 IMPORTIN_B_NT # Pfam PF03810 IBN_N # Pfam PF08389 Xpo1 # Pfam PF08767 CRM1_C # Proteomes UP000005640 Chromosome 2 # Reactome R-HSA-165054 Rev-mediated nuclear export of HIV RNA # Reactome R-HSA-168333 NEP/NS2 Interacts with the Cellular Export Machinery # Reactome R-HSA-2173788 Downregulation of TGF-beta receptor signaling # Reactome R-HSA-2467813 Separation of Sister Chromatids # Reactome R-HSA-2500257 Resolution of Sister Chromatid Cohesion # Reactome R-HSA-3769402 Deactivation of the beta-catenin transactivating complex # Reactome R-HSA-450520 HuR (ELAVL1) binds and stabilizes mRNA # Reactome R-HSA-5663220 RHO GTPases Activate Formins # Reactome R-HSA-5687128 MAPK6/MAPK4 signaling # Reactome R-HSA-68877 Mitotic Prometaphase # Reactome R-HSA-69273 Cyclin A/B1 associated events during G2/M transition # RecName XPO1_HUMAN Exportin-1 # RefSeq NP_003391 NM_003400.3 # RefSeq XP_006712157 XM_006712094.2 # RefSeq XP_011531399 XM_011533097.1 # SIMILARITY Belongs to the exportin family. {ECO 0000305}. # SIMILARITY Contains 1 importin N-terminal domain. {ECO:0000255|PROSITE-ProRule PRU00115}. # SIMILARITY Contains 10 HEAT repeats. {ECO 0000305}. # SMART SM00913 IBN_N # SMART SM01102 CRM1_C # SUBCELLULAR LOCATION XPO1_HUMAN Cytoplasm. Nucleus, nucleoplasm. Nucleus, Cajal body. Nucleus, nucleolus. Note=Located in the nucleoplasm, Cajal bodies and nucleoli. Shuttles between the nucleus/nucleolus and the cytoplasm. # SUBUNIT XPO1_HUMAN Found in a U snRNA export complex with PHAX/RNUXA, NCBP1/CBP80, NCBP2/CBP20, RAN, XPO1 and m7G-capped RNA (By similarity). Component of a nuclear export receptor complex composed of KPNB1, RAN, SNUPN and XPO1. Found in a trimeric export complex with SNUPN, RAN and XPO1. Found in a nuclear export complex with RANBP3 and RAN. Found in a 60S ribosomal subunit export complex with NMD3, RAN, XPO1. Interacts with DDX3X, NMD3, NUPL2, NUP88, NUP214, RANBP3 and TERT. Also found in complex with several viral proteins involved in RNAs' nuclear export like HIV-1 Rev and HTLV-1 Rex. Interacts presumably with influenza A nucleoprotein. Interacts with Epstein-Barr virus BMLF1. Interacts with NEMF (via its N-terminus). Interacts with the monomeric form of BIRC5/survivin deacetylated at 'Lys-129'. Interacts with DTNBP1 and SERTAD2; the interactions translocate DTNBP1 and SERTAD2 out of the nucleus. Interacts with ATF2. Interacts with SLC35G1 and STIM1. Interacts with DCAF8. Interacts with CPEB3 (PubMed 22730302). Interacts with HAX1 (PubMed 23164465). Interacts with BOK; translocates to the cytoplasm (PubMed 16302269). {ECO 0000250|UniProtKB Q6P5F9, ECO 0000269|PubMed 10209022, ECO 0000269|PubMed 10358091, ECO 0000269|PubMed 10400785, ECO 0000269|PubMed 11119609, ECO 0000269|PubMed 11425870, ECO 0000269|PubMed 11571268, ECO 0000269|PubMed 11932251, ECO 0000269|PubMed 12134013, ECO 0000269|PubMed 12724356, ECO 0000269|PubMed 12808100, ECO 0000269|PubMed 14612415, ECO 0000269|PubMed 15507209, ECO 0000269|PubMed 15574331, ECO 0000269|PubMed 15632073, ECO 0000269|PubMed 16103875, ECO 0000269|PubMed 16302269, ECO 0000269|PubMed 18316374, ECO 0000269|PubMed 20826784, ECO 0000269|PubMed 20921223, ECO 0000269|PubMed 22084111, ECO 0000269|PubMed 22275354, ECO 0000269|PubMed 22500989, ECO 0000269|PubMed 22730302, ECO 0000269|PubMed 23164465, ECO 0000269|PubMed 9049309, ECO 0000269|PubMed 9323133, ECO 0000269|PubMed 9837918}. # SUPFAM SSF48371 SSF48371; 4 # TCDB 1.I.1.1 the nuclear pore complex (npc) family # TISSUE SPECIFICITY XPO1_HUMAN Expressed in heart, brain, placenta, lung, liver, skeletal muscle, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon and peripheral blood leukocytes. Not expressed in the kidney. {ECO 0000269|PubMed 9049309, ECO 0000269|PubMed 9368044}. # UCSC uc002sbj human # WEB RESOURCE XPO1_HUMAN Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http //atlasgeneticsoncology.org/Genes/XPO1ID44168ch2p15.html"; # eggNOG COG5101 LUCA # eggNOG KOG2020 Eukaryota BLAST swissprot:XPO1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:XPO1_HUMAN BioCyc ZFISH:ENSG00000082898-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000082898-MONOMER COXPRESdb 7514 http://coxpresdb.jp/data/gene/7514.shtml CleanEx HS_XPO1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_XPO1 DIP DIP-33678N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-33678N DOI 10.1002/mc.20156 http://dx.doi.org/10.1002/mc.20156 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1016/S0092-8674(00)80371-2 http://dx.doi.org/10.1016/S0092-8674(00)80371-2 DOI 10.1016/j.cell.2004.09.029 http://dx.doi.org/10.1016/j.cell.2004.09.029 DOI 10.1016/j.febslet.2012.02.053 http://dx.doi.org/10.1016/j.febslet.2012.02.053 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1016/j.molcel.2004.11.013 http://dx.doi.org/10.1016/j.molcel.2004.11.013 DOI 10.1016/j.molcel.2004.11.018 http://dx.doi.org/10.1016/j.molcel.2004.11.018 DOI 10.1016/j.molcel.2008.07.007 http://dx.doi.org/10.1016/j.molcel.2008.07.007 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1038/nbt1240 http://dx.doi.org/10.1038/nbt1240 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1038/sj.onc.1208962 http://dx.doi.org/10.1038/sj.onc.1208962 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1073/pnas.1117231108 http://dx.doi.org/10.1073/pnas.1117231108 DOI 10.1073/pnas.96.16.9112 http://dx.doi.org/10.1073/pnas.96.16.9112 DOI 10.1074/jbc.272.47.29742 http://dx.doi.org/10.1074/jbc.272.47.29742 DOI 10.1074/jbc.273.50.33414 http://dx.doi.org/10.1074/jbc.273.50.33414 DOI 10.1074/jbc.274.24.17309 http://dx.doi.org/10.1074/jbc.274.24.17309 DOI 10.1074/jbc.C100620200 http://dx.doi.org/10.1074/jbc.C100620200 DOI 10.1074/jbc.M110.107912 http://dx.doi.org/10.1074/jbc.M110.107912 DOI 10.1074/jbc.M110.152777 http://dx.doi.org/10.1074/jbc.M110.152777 DOI 10.1074/jbc.M111.294272 http://dx.doi.org/10.1074/jbc.M111.294272 DOI 10.1074/jbc.M708365200 http://dx.doi.org/10.1074/jbc.M708365200 DOI 10.1083/jcb.145.2.255 http://dx.doi.org/10.1083/jcb.145.2.255 DOI 10.1083/jcb.153.7.1391 http://dx.doi.org/10.1083/jcb.153.7.1391 DOI 10.1093/embo-reports/kve200 http://dx.doi.org/10.1093/embo-reports/kve200 DOI 10.1093/emboj/16.4.807 http://dx.doi.org/10.1093/emboj/16.4.807 DOI 10.1093/nar/gks598 http://dx.doi.org/10.1093/nar/gks598 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/febs.12066 http://dx.doi.org/10.1111/febs.12066 DOI 10.1126/science.1175371 http://dx.doi.org/10.1126/science.1175371 DOI 10.1126/science.278.5335.141 http://dx.doi.org/10.1126/science.278.5335.141 DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 DOI 10.1128/JVI.75.1.408-419.2001 http://dx.doi.org/10.1128/JVI.75.1.408-419.2001 DOI 10.1128/JVI.76.16.8079-8089.2002 http://dx.doi.org/10.1128/JVI.76.16.8079-8089.2002 DOI 10.1128/MCB.23.13.4598-4610.2003 http://dx.doi.org/10.1128/MCB.23.13.4598-4610.2003 DOI 10.1128/MCB.23.23.8751-8761.2003 http://dx.doi.org/10.1128/MCB.23.23.8751-8761.2003 DOI 10.1128/MCB.25.2.728-739.2005 http://dx.doi.org/10.1128/MCB.25.2.728-739.2005 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DOI 10.1242/jcs.00464 http://dx.doi.org/10.1242/jcs.00464 EMBL AC016727 http://www.ebi.ac.uk/ena/data/view/AC016727 EMBL AK289920 http://www.ebi.ac.uk/ena/data/view/AK289920 EMBL BC032847 http://www.ebi.ac.uk/ena/data/view/BC032847 EMBL BX647758 http://www.ebi.ac.uk/ena/data/view/BX647758 EMBL CH471053 http://www.ebi.ac.uk/ena/data/view/CH471053 EMBL CH471053 http://www.ebi.ac.uk/ena/data/view/CH471053 EMBL CR749840 http://www.ebi.ac.uk/ena/data/view/CR749840 EMBL D89729 http://www.ebi.ac.uk/ena/data/view/D89729 EMBL Y08614 http://www.ebi.ac.uk/ena/data/view/Y08614 Ensembl ENST00000401558 http://www.ensembl.org/id/ENST00000401558 Ensembl ENST00000404992 http://www.ensembl.org/id/ENST00000404992 Ensembl ENST00000406957 http://www.ensembl.org/id/ENST00000406957 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000776 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000776 GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005635 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005635 GO_component GO:0005642 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005642 GO_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GO_component GO:0005730 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005730 GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0015030 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015030 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0030529 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030529 GO_component GO:0031965 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031965 GO_component GO:0043231 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043231 GO_function GO:0003723 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003723 GO_function GO:0005049 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005049 GO_function GO:0005215 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005215 GO_function GO:0005487 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005487 GO_process GO:0000055 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000055 GO_process GO:0000056 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000056 GO_process GO:0000122 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000122 GO_process GO:0006611 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006611 GO_process GO:0007062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007062 GO_process GO:0010824 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010824 GO_process GO:0016032 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016032 GO_process GO:0034504 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034504 GO_process GO:0042176 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042176 GO_process GO:0042493 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042493 GO_process GO:0043488 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043488 GO_process GO:0046825 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046825 GO_process GO:0051028 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051028 GO_process GO:0075733 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0075733 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_component GO:0005635 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005635 GOslim_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GOslim_component GO:0005730 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005730 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0003723 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003723 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006913 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006913 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0044403 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044403 GOslim_process GO:0051276 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051276 Gene3D 1.25.10.10 http://www.cathdb.info/version/latest/superfamily/1.25.10.10 GeneCards XPO1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=XPO1 GeneID 7514 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=7514 GeneTree ENSGT00390000000572 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000000572 HGNC HGNC:12825 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:12825 HOVERGEN HBG052817 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052817&db=HOVERGEN HPA CAB010184 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB010184 HPA HPA042933 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA042933 InParanoid O14980 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O14980 IntAct O14980 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O14980* InterPro IPR001494 http://www.ebi.ac.uk/interpro/entry/IPR001494 InterPro IPR011989 http://www.ebi.ac.uk/interpro/entry/IPR011989 InterPro IPR013598 http://www.ebi.ac.uk/interpro/entry/IPR013598 InterPro IPR014877 http://www.ebi.ac.uk/interpro/entry/IPR014877 InterPro IPR016024 http://www.ebi.ac.uk/interpro/entry/IPR016024 Jabion 7514 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=7514 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko03009 http://www.genome.jp/dbget-bin/www_bget?ko03009 KEGG_Brite ko03016 http://www.genome.jp/dbget-bin/www_bget?ko03016 KEGG_Brite ko03036 http://www.genome.jp/dbget-bin/www_bget?ko03036 KEGG_Gene hsa:7514 http://www.genome.jp/dbget-bin/www_bget?hsa:7514 KEGG_Orthology KO:K14290 http://www.genome.jp/dbget-bin/www_bget?KO:K14290 KEGG_Pathway ko03008 http://www.genome.jp/kegg-bin/show_pathway?ko03008 KEGG_Pathway ko03013 http://www.genome.jp/kegg-bin/show_pathway?ko03013 KEGG_Pathway ko05164 http://www.genome.jp/kegg-bin/show_pathway?ko05164 KEGG_Pathway ko05166 http://www.genome.jp/kegg-bin/show_pathway?ko05166 KEGG_Pathway ko05169 http://www.genome.jp/kegg-bin/show_pathway?ko05169 MIM 602559 http://www.ncbi.nlm.nih.gov/omim/602559 MINT MINT-5002192 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-5002192 OMA TFIKIAL http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=TFIKIAL OrthoDB EOG091G013G http://cegg.unige.ch/orthodb/results?searchtext=EOG091G013G PDB 1W9C http://www.ebi.ac.uk/pdbe-srv/view/entry/1W9C PDB 2L1L http://www.ebi.ac.uk/pdbe-srv/view/entry/2L1L PDB 3GB8 http://www.ebi.ac.uk/pdbe-srv/view/entry/3GB8 PDB 4BSM http://www.ebi.ac.uk/pdbe-srv/view/entry/4BSM PDB 4BSN http://www.ebi.ac.uk/pdbe-srv/view/entry/4BSN PDB 5DIS http://www.ebi.ac.uk/pdbe-srv/view/entry/5DIS PDBsum 1W9C http://www.ebi.ac.uk/pdbsum/1W9C PDBsum 2L1L http://www.ebi.ac.uk/pdbsum/2L1L PDBsum 3GB8 http://www.ebi.ac.uk/pdbsum/3GB8 PDBsum 4BSM http://www.ebi.ac.uk/pdbsum/4BSM PDBsum 4BSN http://www.ebi.ac.uk/pdbsum/4BSN PDBsum 5DIS http://www.ebi.ac.uk/pdbsum/5DIS PROSITE PS50166 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50166 PSORT swissprot:XPO1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:XPO1_HUMAN PSORT-B swissprot:XPO1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:XPO1_HUMAN PSORT2 swissprot:XPO1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:XPO1_HUMAN Pfam PF03810 http://pfam.xfam.org/family/PF03810 Pfam PF08389 http://pfam.xfam.org/family/PF08389 Pfam PF08767 http://pfam.xfam.org/family/PF08767 PharmGKB PA37418 http://www.pharmgkb.org/do/serve?objId=PA37418&objCls=Gene Phobius swissprot:XPO1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:XPO1_HUMAN PhylomeDB O14980 http://phylomedb.org/?seqid=O14980 ProteinModelPortal O14980 http://www.proteinmodelportal.org/query/uniprot/O14980 PubMed 10209022 http://www.ncbi.nlm.nih.gov/pubmed/10209022 PubMed 10358091 http://www.ncbi.nlm.nih.gov/pubmed/10358091 PubMed 10400785 http://www.ncbi.nlm.nih.gov/pubmed/10400785 PubMed 10430904 http://www.ncbi.nlm.nih.gov/pubmed/10430904 PubMed 11119609 http://www.ncbi.nlm.nih.gov/pubmed/11119609 PubMed 11425870 http://www.ncbi.nlm.nih.gov/pubmed/11425870 PubMed 11571268 http://www.ncbi.nlm.nih.gov/pubmed/11571268 PubMed 11932251 http://www.ncbi.nlm.nih.gov/pubmed/11932251 PubMed 12134013 http://www.ncbi.nlm.nih.gov/pubmed/12134013 PubMed 12724356 http://www.ncbi.nlm.nih.gov/pubmed/12724356 PubMed 12808100 http://www.ncbi.nlm.nih.gov/pubmed/12808100 PubMed 14612415 http://www.ncbi.nlm.nih.gov/pubmed/14612415 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15507209 http://www.ncbi.nlm.nih.gov/pubmed/15507209 PubMed 15574331 http://www.ncbi.nlm.nih.gov/pubmed/15574331 PubMed 15574332 http://www.ncbi.nlm.nih.gov/pubmed/15574332 PubMed 15632073 http://www.ncbi.nlm.nih.gov/pubmed/15632073 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 PubMed 16103875 http://www.ncbi.nlm.nih.gov/pubmed/16103875 PubMed 16302269 http://www.ncbi.nlm.nih.gov/pubmed/16302269 PubMed 16964243 http://www.ncbi.nlm.nih.gov/pubmed/16964243 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 PubMed 18316374 http://www.ncbi.nlm.nih.gov/pubmed/18316374 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 18691976 http://www.ncbi.nlm.nih.gov/pubmed/18691976 PubMed 19608861 http://www.ncbi.nlm.nih.gov/pubmed/19608861 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 20826784 http://www.ncbi.nlm.nih.gov/pubmed/20826784 PubMed 20921223 http://www.ncbi.nlm.nih.gov/pubmed/20921223 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 22084111 http://www.ncbi.nlm.nih.gov/pubmed/22084111 PubMed 22275354 http://www.ncbi.nlm.nih.gov/pubmed/22275354 PubMed 22500989 http://www.ncbi.nlm.nih.gov/pubmed/22500989 PubMed 22730302 http://www.ncbi.nlm.nih.gov/pubmed/22730302 PubMed 23164465 http://www.ncbi.nlm.nih.gov/pubmed/23164465 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 9049309 http://www.ncbi.nlm.nih.gov/pubmed/9049309 PubMed 9311922 http://www.ncbi.nlm.nih.gov/pubmed/9311922 PubMed 9323133 http://www.ncbi.nlm.nih.gov/pubmed/9323133 PubMed 9368044 http://www.ncbi.nlm.nih.gov/pubmed/9368044 PubMed 9837918 http://www.ncbi.nlm.nih.gov/pubmed/9837918 Reactome R-HSA-165054 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-165054 Reactome R-HSA-168333 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-168333 Reactome R-HSA-2173788 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2173788 Reactome R-HSA-2467813 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2467813 Reactome R-HSA-2500257 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2500257 Reactome R-HSA-3769402 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-3769402 Reactome R-HSA-450520 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-450520 Reactome R-HSA-5663220 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5663220 Reactome R-HSA-5687128 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5687128 Reactome R-HSA-68877 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-68877 Reactome R-HSA-69273 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-69273 RefSeq NP_003391 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_003391 RefSeq XP_006712157 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006712157 RefSeq XP_011531399 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011531399 SMART SM00913 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00913 SMART SM01102 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM01102 SMR O14980 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=O14980 STRING 9606.ENSP00000384863 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000384863&targetmode=cogs SUPFAM SSF48371 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48371 TCDB 1.I.1.1 http://www.tcdb.org/search/result.php?tc=1.I.1.1 UCSC uc002sbj http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002sbj&org=rat UniGene Hs.370770 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.370770 UniProtKB XPO1_HUMAN http://www.uniprot.org/uniprot/XPO1_HUMAN UniProtKB-AC O14980 http://www.uniprot.org/uniprot/O14980 charge swissprot:XPO1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:XPO1_HUMAN eggNOG COG5101 http://eggnogapi.embl.de/nog_data/html/tree/COG5101 eggNOG KOG2020 http://eggnogapi.embl.de/nog_data/html/tree/KOG2020 epestfind swissprot:XPO1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:XPO1_HUMAN garnier swissprot:XPO1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:XPO1_HUMAN helixturnhelix swissprot:XPO1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:XPO1_HUMAN hmoment swissprot:XPO1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:XPO1_HUMAN iep swissprot:XPO1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:XPO1_HUMAN inforesidue swissprot:XPO1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:XPO1_HUMAN neXtProt NX_O14980 http://www.nextprot.org/db/entry/NX_O14980 octanol swissprot:XPO1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:XPO1_HUMAN pepcoil swissprot:XPO1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:XPO1_HUMAN pepdigest swissprot:XPO1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:XPO1_HUMAN pepinfo swissprot:XPO1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:XPO1_HUMAN pepnet swissprot:XPO1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:XPO1_HUMAN pepstats swissprot:XPO1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:XPO1_HUMAN pepwheel swissprot:XPO1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:XPO1_HUMAN pepwindow swissprot:XPO1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:XPO1_HUMAN sigcleave swissprot:XPO1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:XPO1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS AP1G1_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O43747-1; Sequence=Displayed; Name=2; IsoId=O43747-2; Sequence=VSP_040133; # AltName AP1G1_HUMAN Adaptor protein complex AP-1 subunit gamma-1 # AltName AP1G1_HUMAN Adaptor-related protein complex 1 subunit gamma-1 # AltName AP1G1_HUMAN Clathrin assembly protein complex 1 gamma-1 large chain # AltName AP1G1_HUMAN Gamma1-adaptin # AltName AP1G1_HUMAN Golgi adaptor HA1/AP1 adaptin subunit gamma-1 # BioGrid 106673 50 # CCDS CCDS32480 -. [O43747-1] # CCDS CCDS45522 -. [O43747-2] # ChiTaRS AP1G1 human # Ensembl ENST00000299980 ENSP00000299980; ENSG00000166747. [O43747-1] # Ensembl ENST00000393512 ENSP00000377148; ENSG00000166747. [O43747-2] # Ensembl ENST00000569748 ENSP00000454523; ENSG00000166747. [O43747-1] # ExpressionAtlas O43747 baseline and differential # FUNCTION AP1G1_HUMAN Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. # GO_component GO:0000139 Golgi membrane; TAS:Reactome. # GO_component GO:0005737 cytoplasm; IDA:HPA. # GO_component GO:0005765 lysosomal membrane; TAS:Reactome. # GO_component GO:0005794 Golgi apparatus; IDA:UniProtKB. # GO_component GO:0005829 cytosol; TAS:Reactome. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0030119 AP-type membrane coat adaptor complex; TAS:ProtInc. # GO_component GO:0030131 clathrin adaptor complex; IEA:InterPro. # GO_component GO:0030136 clathrin-coated vesicle; IDA:MGI. # GO_component GO:0030659 cytoplasmic vesicle membrane; TAS:Reactome. # GO_component GO:0030665 clathrin-coated vesicle membrane; ISS:BHF-UCL. # GO_component GO:0030669 clathrin-coated endocytic vesicle membrane; TAS:Reactome. # GO_component GO:0032588 trans-Golgi network membrane; TAS:Reactome. # GO_component GO:0043231 intracellular membrane-bounded organelle; IDA:HPA. # GO_component GO:0055037 recycling endosome; IDA:UniProtKB. # GO_function GO:0005215 transporter activity; TAS:ProtInc. # GO_function GO:0008565 protein transporter activity; IEA:InterPro. # GO_function GO:0017137 Rab GTPase binding; IPI:ParkinsonsUK-UCL. # GO_function GO:0019894 kinesin binding; IPI:UniProtKB. # GO_function GO:0030742 GTP-dependent protein binding; IPI:ParkinsonsUK-UCL. # GO_process GO:0006886 intracellular protein transport; TAS:ProtInc. # GO_process GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II; TAS:Reactome. # GO_process GO:0032438 melanosome organization; IC:ParkinsonsUK-UCL. # GO_process GO:0035646 endosome to melanosome transport; IMP:ParkinsonsUK-UCL. # GO_process GO:0043323 positive regulation of natural killer cell degranulation; IMP:UniProtKB. # GO_process GO:0045954 positive regulation of natural killer cell mediated cytotoxicity; IMP:UniProtKB. # GO_process GO:0050690 regulation of defense response to virus by virus; TAS:Reactome. # GO_process GO:0090160 Golgi to lysosome transport; IMP:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005768 endosome # GOslim_component GO:0005794 Golgi apparatus # GOslim_component GO:0005829 cytosol # GOslim_component GO:0031410 cytoplasmic vesicle # GOslim_component GO:0043226 organelle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0008092 cytoskeletal protein binding # GOslim_function GO:0008565 protein transporter activity # GOslim_function GO:0019899 enzyme binding # GOslim_process GO:0002376 immune system process # GOslim_process GO:0006810 transport # GOslim_process GO:0007034 vacuolar transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0016192 vesicle-mediated transport # Gene3D 1.25.10.10 -; 1. # Gene3D 2.60.40.1230 -; 2. # Genevisible O43747 HS # HGNC HGNC:555 AP1G1 # INTERACTION AP1G1_HUMAN P56377 AP1S2; NbExp=5; IntAct=EBI-10185819, EBI-1054374; Q15276 RABEP1; NbExp=2; IntAct=EBI-447609, EBI-447043; Q96S82 UBL7; NbExp=5; IntAct=EBI-10185819, EBI-348604; # IntAct O43747 28 # InterPro IPR002553 Clathrin/coatomer_adapt-like_N # InterPro IPR008152 Clathrin_a/b/g-adaptin_app_Ig # InterPro IPR008153 Clathrin_g-adaptin_app # InterPro IPR011989 ARM-like # InterPro IPR013041 Coatomer/clathrin_app_Ig-like # InterPro IPR016024 ARM-type_fold # InterPro IPR017107 AP1_complex_gsu # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Pathway ko04142 Lysosome # MIM 603533 gene # Organism AP1G1_HUMAN Homo sapiens (Human) # PDB 1IU1 X-ray; 1.80 A; A/B=677-822 # PIRSF PIRSF037094 AP1_complex_gamma # PROSITE PS50180 GAE # Pfam PF01602 Adaptin_N # Pfam PF02883 Alpha_adaptinC2 # Proteomes UP000005640 Chromosome 16 # Reactome R-HSA-164940 Nef mediated downregulation of MHC class I complex cell surface expression # Reactome R-HSA-2132295 MHC class II antigen presentation # Reactome R-HSA-432720 Lysosome Vesicle Biogenesis # Reactome R-HSA-432722 Golgi Associated Vesicle Biogenesis # RecName AP1G1_HUMAN AP-1 complex subunit gamma-1 # RefSeq NP_001025178 NM_001030007.1. [O43747-2] # RefSeq NP_001119 NM_001128.5. [O43747-1] # SIMILARITY Belongs to the adaptor complexes large subunit family. {ECO 0000305}. # SIMILARITY Contains 1 GAE domain. {ECO:0000255|PROSITE- ProRule PRU00093}. # SMART SM00809 Alpha_adaptinC2 # SUBCELLULAR LOCATION AP1G1_HUMAN Golgi apparatus {ECO 0000269|PubMed 12773381}. Cytoplasmic vesicle, clathrin- coated vesicle membrane {ECO 0000269|PubMed 12773381}; Peripheral membrane protein {ECO 0000269|PubMed 12773381}; Cytoplasmic side {ECO 0000269|PubMed 12773381}. Note=Component of the coat surrounding the cytoplasmic face of coated vesicles located at the Golgi complex. # SUBUNIT AP1G1_HUMAN Adaptor protein complex 1 (AP-1) is a heterotetramer composed of two large adaptins (gamma-type subunit AP1G1 and beta- type subunit AP1B1), a medium adaptin (mu-type subunit AP1M1 or AP1M2) and a small adaptin (sigma-type subunit AP1S1 or AP1S2 or AP1S3). Binds RABEP1 and SYNRG. Interacts (via GAE domain) with AP1AR (via coiled-coil domain). {ECO 0000269|PubMed 12042876, ECO 0000269|PubMed 12773381, ECO 0000269|PubMed 15775984}. # SUPFAM SSF48371 SSF48371 # SUPFAM SSF49348 SSF49348 # TISSUE SPECIFICITY AP1G1_HUMAN Widely expressed. # UCSC uc010cgg human. [O43747-1] # eggNOG ENOG410XPKK LUCA # eggNOG KOG1062 Eukaryota BLAST swissprot:AP1G1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:AP1G1_HUMAN BioCyc ZFISH:ENSG00000166747-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000166747-MONOMER COXPRESdb 164 http://coxpresdb.jp/data/gene/164.shtml CleanEx HS_AP1G1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_AP1G1 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1006/geno.1998.5289 http://dx.doi.org/10.1006/geno.1998.5289 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1038/nature03187 http://dx.doi.org/10.1038/nature03187 DOI 10.1038/nsb808 http://dx.doi.org/10.1038/nsb808 DOI 10.1038/sj.emboj.7600600 http://dx.doi.org/10.1038/sj.emboj.7600600 DOI 10.1074/jbc.273.38.24693 http://dx.doi.org/10.1074/jbc.273.38.24693 DOI 10.1093/emboj/cdg257 http://dx.doi.org/10.1093/emboj/cdg257 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AB015317 http://www.ebi.ac.uk/ena/data/view/AB015317 EMBL AC009097 http://www.ebi.ac.uk/ena/data/view/AC009097 EMBL AC010653 http://www.ebi.ac.uk/ena/data/view/AC010653 EMBL AJ224112 http://www.ebi.ac.uk/ena/data/view/AJ224112 EMBL AJ224113 http://www.ebi.ac.uk/ena/data/view/AJ224113 EMBL AJ224114 http://www.ebi.ac.uk/ena/data/view/AJ224114 EMBL AL050025 http://www.ebi.ac.uk/ena/data/view/AL050025 EMBL AL110198 http://www.ebi.ac.uk/ena/data/view/AL110198 EMBL Y12226 http://www.ebi.ac.uk/ena/data/view/Y12226 Ensembl ENST00000299980 http://www.ensembl.org/id/ENST00000299980 Ensembl ENST00000393512 http://www.ensembl.org/id/ENST00000393512 Ensembl ENST00000569748 http://www.ensembl.org/id/ENST00000569748 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000139 GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005765 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005765 GO_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0030119 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030119 GO_component GO:0030131 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030131 GO_component GO:0030136 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030136 GO_component GO:0030659 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030659 GO_component GO:0030665 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030665 GO_component GO:0030669 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030669 GO_component GO:0032588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032588 GO_component GO:0043231 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043231 GO_component GO:0055037 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055037 GO_function GO:0005215 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005215 GO_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GO_function GO:0017137 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0017137 GO_function GO:0019894 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019894 GO_function GO:0030742 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030742 GO_process GO:0006886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006886 GO_process GO:0019886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019886 GO_process GO:0032438 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032438 GO_process GO:0035646 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035646 GO_process GO:0043323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043323 GO_process GO:0045954 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045954 GO_process GO:0050690 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050690 GO_process GO:0090160 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090160 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GOslim_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0031410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0008092 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008092 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_function GO:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GOslim_process GO:0002376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002376 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007034 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007034 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0016192 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016192 Gene3D 1.25.10.10 http://www.cathdb.info/version/latest/superfamily/1.25.10.10 Gene3D 2.60.40.1230 http://www.cathdb.info/version/latest/superfamily/2.60.40.1230 GeneCards AP1G1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=AP1G1 GeneID 164 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=164 GeneTree ENSGT00390000012618 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000012618 HGNC HGNC:555 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:555 HOGENOM HOG000210271 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000210271&db=HOGENOM6 HOVERGEN HBG067473 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG067473&db=HOVERGEN HPA CAB009049 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB009049 HPA HPA041224 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA041224 InParanoid O43747 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O43747 IntAct O43747 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O43747* InterPro IPR002553 http://www.ebi.ac.uk/interpro/entry/IPR002553 InterPro IPR008152 http://www.ebi.ac.uk/interpro/entry/IPR008152 InterPro IPR008153 http://www.ebi.ac.uk/interpro/entry/IPR008153 InterPro IPR011989 http://www.ebi.ac.uk/interpro/entry/IPR011989 InterPro IPR013041 http://www.ebi.ac.uk/interpro/entry/IPR013041 InterPro IPR016024 http://www.ebi.ac.uk/interpro/entry/IPR016024 InterPro IPR017107 http://www.ebi.ac.uk/interpro/entry/IPR017107 Jabion 164 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=164 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Gene hsa:164 http://www.genome.jp/dbget-bin/www_bget?hsa:164 KEGG_Orthology KO:K12391 http://www.genome.jp/dbget-bin/www_bget?KO:K12391 KEGG_Pathway ko04142 http://www.genome.jp/kegg-bin/show_pathway?ko04142 MIM 603533 http://www.ncbi.nlm.nih.gov/omim/603533 MINT MINT-3369703 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-3369703 OMA FKSECAS http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=FKSECAS OrthoDB EOG091G01RV http://cegg.unige.ch/orthodb/results?searchtext=EOG091G01RV PDB 1IU1 http://www.ebi.ac.uk/pdbe-srv/view/entry/1IU1 PDBsum 1IU1 http://www.ebi.ac.uk/pdbsum/1IU1 PROSITE PS50180 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50180 PSORT swissprot:AP1G1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:AP1G1_HUMAN PSORT-B swissprot:AP1G1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:AP1G1_HUMAN PSORT2 swissprot:AP1G1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:AP1G1_HUMAN Pfam PF01602 http://pfam.xfam.org/family/PF01602 Pfam PF02883 http://pfam.xfam.org/family/PF02883 PharmGKB PA24845 http://www.pharmgkb.org/do/serve?objId=PA24845&objCls=Gene Phobius swissprot:AP1G1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:AP1G1_HUMAN PhylomeDB O43747 http://phylomedb.org/?seqid=O43747 ProteinModelPortal O43747 http://www.proteinmodelportal.org/query/uniprot/O43747 PubMed 12042876 http://www.ncbi.nlm.nih.gov/pubmed/12042876 PubMed 12773381 http://www.ncbi.nlm.nih.gov/pubmed/12773381 PubMed 15616553 http://www.ncbi.nlm.nih.gov/pubmed/15616553 PubMed 15775984 http://www.ncbi.nlm.nih.gov/pubmed/15775984 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 9653655 http://www.ncbi.nlm.nih.gov/pubmed/9653655 PubMed 9733768 http://www.ncbi.nlm.nih.gov/pubmed/9733768 Reactome R-HSA-164940 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-164940 Reactome R-HSA-2132295 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2132295 Reactome R-HSA-432720 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-432720 Reactome R-HSA-432722 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-432722 RefSeq NP_001025178 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001025178 RefSeq NP_001119 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001119 SMART SM00809 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00809 SMR O43747 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=O43747 STRING 9606.ENSP00000377148 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000377148&targetmode=cogs SUPFAM SSF48371 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48371 SUPFAM SSF49348 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF49348 UCSC uc010cgg http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc010cgg&org=rat UniGene Hs.461253 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.461253 UniProtKB AP1G1_HUMAN http://www.uniprot.org/uniprot/AP1G1_HUMAN UniProtKB-AC O43747 http://www.uniprot.org/uniprot/O43747 charge swissprot:AP1G1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:AP1G1_HUMAN eggNOG ENOG410XPKK http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XPKK eggNOG KOG1062 http://eggnogapi.embl.de/nog_data/html/tree/KOG1062 epestfind swissprot:AP1G1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:AP1G1_HUMAN garnier swissprot:AP1G1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:AP1G1_HUMAN helixturnhelix swissprot:AP1G1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:AP1G1_HUMAN hmoment swissprot:AP1G1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:AP1G1_HUMAN iep swissprot:AP1G1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:AP1G1_HUMAN inforesidue swissprot:AP1G1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:AP1G1_HUMAN neXtProt NX_O43747 http://www.nextprot.org/db/entry/NX_O43747 octanol swissprot:AP1G1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:AP1G1_HUMAN pepcoil swissprot:AP1G1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:AP1G1_HUMAN pepdigest swissprot:AP1G1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:AP1G1_HUMAN pepinfo swissprot:AP1G1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:AP1G1_HUMAN pepnet swissprot:AP1G1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:AP1G1_HUMAN pepstats swissprot:AP1G1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:AP1G1_HUMAN pepwheel swissprot:AP1G1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:AP1G1_HUMAN pepwindow swissprot:AP1G1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:AP1G1_HUMAN sigcleave swissprot:AP1G1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:AP1G1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS LAT3_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1 {ECO 0000269|PubMed 9722952}; Synonyms=2.3kb {ECO 0000303|PubMed 9722952}; IsoId=O75387-1; Sequence=Displayed; Name=2 {ECO 0000269|PubMed 9722952}; Synonyms=5kb {ECO 0000303|PubMed 9722952}; IsoId=O75387-2; Sequence=VSP_051620; # AltName LAT3_HUMAN L-type amino acid transporter 3 # AltName LAT3_HUMAN Prostate cancer overexpressed gene 1 protein # AltName LAT3_HUMAN Solute carrier family 43 member 1 # BioGrid 114073 3 # CCDS CCDS7958 -. [O75387-1] # CDD cd06174 MFS # ChiTaRS SLC43A1 human # Ensembl ENST00000278426 ENSP00000278426; ENSG00000149150. [O75387-1] # Ensembl ENST00000528450 ENSP00000435673; ENSG00000149150. [O75387-1] # ExpressionAtlas O75387 baseline and differential # FUNCTION LAT3_HUMAN Sodium-independent, high affinity transport of large neutral amino acids. Has narrower substrate selectivity compared to SLC7A5 and SLC7A8 and mainly transports branched-chain amino acids and phenylalanine. Plays a role in the development of human prostate cancer, from prostatic intraepithelial neoplasia to invasive prostate cancer. {ECO 0000269|PubMed 11956097, ECO 0000269|PubMed 12930836, ECO 0000269|PubMed 9255310, ECO 0000269|PubMed 9722952}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:UniProtKB. # GO_function GO:0015171 amino acid transmembrane transporter activity; TAS:Reactome. # GO_function GO:0015175 neutral amino acid transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0015179 L-amino acid transmembrane transporter activity; IBA:GO_Central. # GO_process GO:0006865 amino acid transport; TAS:Reactome. # GO_process GO:0015804 neutral amino acid transport; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # Genevisible O75387 HS # HGNC HGNC:9225 SLC43A1 # IntAct O75387 2 # InterPro IPR011701 MFS # InterPro IPR020846 MFS_dom # KEGG_Brite ko02000 Transporters # KEGG_Brite ko02001 Solute carrier family # MIM 603733 gene # MISCELLANEOUS LAT3_HUMAN Up-regulated in early prostate cancer development with highest expression level in seminomas of testicular germ cell tumors. {ECO 0000269|PubMed 11956097, ECO 0000269|PubMed 9255310}. # Organism LAT3_HUMAN Homo sapiens (Human) # Pfam PF07690 MFS_1 # Proteomes UP000005640 Chromosome 11 # Reactome R-HSA-352230 Amino acid transport across the plasma membrane # RecName LAT3_HUMAN Large neutral amino acids transporter small subunit 3 # RefSeq NP_001185739 NM_001198810.1. [O75387-1] # RefSeq NP_003618 NM_003627.5. [O75387-1] # RefSeq XP_016873940 XM_017018451.1. [O75387-1] # SIMILARITY Belongs to the SLC43A transporter (TC 2.A.1.44) family. {ECO 0000305}. # SUBCELLULAR LOCATION LAT3_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # SUPFAM SSF103473 SSF103473; 3 # TCDB 2.A.1.44 the major facilitator superfamily (mfs) # TISSUE SPECIFICITY LAT3_HUMAN In adults, found in all tissues examined with highest expression in pancreas. In fetus, highest expression in liver and lower levels in kidney, and lung. High levels found in prostate cancer cells. {ECO 0000269|PubMed 11956097, ECO 0000269|PubMed 12930836, ECO 0000269|PubMed 9255310, ECO 0000269|PubMed 9722952}. # UCSC uc001nkk human. [O75387-1] # eggNOG ENOG410IHH0 Eukaryota # eggNOG ENOG410Y95V LUCA BLAST swissprot:LAT3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:LAT3_HUMAN BioCyc ZFISH:ENSG00000149150-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000149150-MONOMER COXPRESdb 8501 http://coxpresdb.jp/data/gene/8501.shtml CleanEx HS_SLC43A1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC43A1 DIP DIP-47272N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-47272N DOI 10.1006/geno.1998.5359 http://dx.doi.org/10.1006/geno.1998.5359 DOI 10.1016/S0090-4295(97)00194-5 http://dx.doi.org/10.1016/S0090-4295(97)00194-5 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1074/jbc.M305221200 http://dx.doi.org/10.1074/jbc.M305221200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AB103033 http://www.ebi.ac.uk/ena/data/view/AB103033 EMBL AF045584 http://www.ebi.ac.uk/ena/data/view/AF045584 EMBL BC001639 http://www.ebi.ac.uk/ena/data/view/BC001639 Ensembl ENST00000278426 http://www.ensembl.org/id/ENST00000278426 Ensembl ENST00000528450 http://www.ensembl.org/id/ENST00000528450 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0015171 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015171 GO_function GO:0015175 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015175 GO_function GO:0015179 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015179 GO_process GO:0006865 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006865 GO_process GO:0015804 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015804 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GeneCards SLC43A1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC43A1 GeneID 8501 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=8501 GeneTree ENSGT00530000063043 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000063043 HGNC HGNC:9225 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:9225 HOGENOM HOG000231937 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231937&db=HOGENOM6 HOVERGEN HBG072879 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG072879&db=HOVERGEN HPA HPA018813 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA018813 HPA HPA018826 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA018826 InParanoid O75387 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O75387 IntAct O75387 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O75387* InterPro IPR011701 http://www.ebi.ac.uk/interpro/entry/IPR011701 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 8501 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=8501 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:8501 http://www.genome.jp/dbget-bin/www_bget?hsa:8501 KEGG_Orthology KO:K08228 http://www.genome.jp/dbget-bin/www_bget?KO:K08228 MIM 603733 http://www.ncbi.nlm.nih.gov/omim/603733 OMA PRFIRIG http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=PRFIRIG OrthoDB EOG091G0407 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0407 PSORT swissprot:LAT3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:LAT3_HUMAN PSORT-B swissprot:LAT3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:LAT3_HUMAN PSORT2 swissprot:LAT3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:LAT3_HUMAN Pfam PF07690 http://pfam.xfam.org/family/PF07690 PharmGKB PA33549 http://www.pharmgkb.org/do/serve?objId=PA33549&objCls=Gene Phobius swissprot:LAT3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:LAT3_HUMAN PhylomeDB O75387 http://phylomedb.org/?seqid=O75387 ProteinModelPortal O75387 http://www.proteinmodelportal.org/query/uniprot/O75387 PubMed 11956097 http://www.ncbi.nlm.nih.gov/pubmed/11956097 PubMed 12930836 http://www.ncbi.nlm.nih.gov/pubmed/12930836 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 9255310 http://www.ncbi.nlm.nih.gov/pubmed/9255310 PubMed 9722952 http://www.ncbi.nlm.nih.gov/pubmed/9722952 Reactome R-HSA-352230 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-352230 RefSeq NP_001185739 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001185739 RefSeq NP_003618 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_003618 RefSeq XP_016873940 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016873940 STRING 9606.ENSP00000278426 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000278426&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.1.44 http://www.tcdb.org/search/result.php?tc=2.A.1.44 UCSC uc001nkk http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001nkk&org=rat UniGene Hs.591952 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.591952 UniGene Hs.735724 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.735724 UniProtKB LAT3_HUMAN http://www.uniprot.org/uniprot/LAT3_HUMAN UniProtKB-AC O75387 http://www.uniprot.org/uniprot/O75387 charge swissprot:LAT3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:LAT3_HUMAN eggNOG ENOG410IHH0 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IHH0 eggNOG ENOG410Y95V http://eggnogapi.embl.de/nog_data/html/tree/ENOG410Y95V epestfind swissprot:LAT3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:LAT3_HUMAN garnier swissprot:LAT3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:LAT3_HUMAN helixturnhelix swissprot:LAT3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:LAT3_HUMAN hmoment swissprot:LAT3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:LAT3_HUMAN iep swissprot:LAT3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:LAT3_HUMAN inforesidue swissprot:LAT3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:LAT3_HUMAN neXtProt NX_O75387 http://www.nextprot.org/db/entry/NX_O75387 octanol swissprot:LAT3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:LAT3_HUMAN pepcoil swissprot:LAT3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:LAT3_HUMAN pepdigest swissprot:LAT3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:LAT3_HUMAN pepinfo swissprot:LAT3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:LAT3_HUMAN pepnet swissprot:LAT3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:LAT3_HUMAN pepstats swissprot:LAT3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:LAT3_HUMAN pepwheel swissprot:LAT3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:LAT3_HUMAN pepwindow swissprot:LAT3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:LAT3_HUMAN sigcleave swissprot:LAT3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:LAT3_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS SERC2_HUMAN Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q96SA4-1; Sequence=Displayed; Name=2; IsoId=Q96SA4-2; Sequence=VSP_042464; Name=3; IsoId=Q96SA4-3; Sequence=VSP_042463; Name=4; IsoId=Q96SA4-4; Sequence=VSP_046840; Note=No experimental confirmation available. Gene prediction based on cDNA data.; # AltName SERC2_HUMAN Tumor differentially expressed protein 2-like # BioGrid 131485 8 # CCDS CCDS30662 -. [Q96SA4-1] # CCDS CCDS55583 -. [Q96SA4-4] # CCDS CCDS55584 -. [Q96SA4-3] # CCDS CCDS55585 -. [Q96SA4-2] # ChiTaRS SERINC2 human # Ensembl ENST00000373709 ENSP00000362813; ENSG00000168528. [Q96SA4-1] # Ensembl ENST00000373710 ENSP00000362814; ENSG00000168528. [Q96SA4-4] # Ensembl ENST00000536384 ENSP00000439048; ENSG00000168528. [Q96SA4-2] # Ensembl ENST00000536859 ENSP00000444307; ENSG00000168528. [Q96SA4-3] # GO_component GO:0016021 integral component of membrane; IBA:GO_Central. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0015194 L-serine transmembrane transporter activity; IBA:GO_Central. # GO_process GO:0006658 phosphatidylserine metabolic process; IEA:Ensembl. # GO_process GO:0006665 sphingolipid metabolic process; IEA:InterPro. # GO_process GO:1904219 positive regulation of CDP-diacylglycerol-serine O-phosphatidyltransferase activity; IEA:Ensembl. # GO_process GO:1904222 positive regulation of serine C-palmitoyltransferase activity; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0043226 organelle # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006629 lipid metabolic process # GOslim_process GO:0008150 biological_process # Genevisible Q96SA4 HS # HGNC HGNC:23231 SERINC2 # InterPro IPR005016 TDE1/TMS # InterPro IPR029554 SERINC2 # MIM 614549 gene # Organism SERC2_HUMAN Homo sapiens (Human) # PANTHER PTHR10383 PTHR10383 # PANTHER PTHR10383:SF22 PTHR10383:SF22 # Pfam PF03348 Serinc # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-977347 Serine biosynthesis # RecName SERC2_HUMAN Serine incorporator 2 # RefSeq NP_001185966 NM_001199037.1. [Q96SA4-3] # RefSeq NP_001185967 NM_001199038.1. [Q96SA4-4] # RefSeq NP_001185968 NM_001199039.1 # RefSeq NP_061035 NM_018565.3. [Q96SA4-2] # RefSeq NP_849196 NM_178865.4. [Q96SA4-1] # SIMILARITY Belongs to the TDE1 family. {ECO 0000305}. # SUBCELLULAR LOCATION SERC2_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # UCSC uc001bst human. [Q96SA4-1] # eggNOG ENOG410XP7K LUCA # eggNOG KOG2592 Eukaryota BLAST swissprot:SERC2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SERC2_HUMAN BioCyc ZFISH:ENSG00000168528-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000168528-MONOMER COXPRESdb 347735 http://coxpresdb.jp/data/gene/347735.shtml DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.1293003 http://dx.doi.org/10.1101/gr.1293003 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AC114494 http://www.ebi.ac.uk/ena/data/view/AC114494 EMBL AF352325 http://www.ebi.ac.uk/ena/data/view/AF352325 EMBL AK296118 http://www.ebi.ac.uk/ena/data/view/AK296118 EMBL AK298512 http://www.ebi.ac.uk/ena/data/view/AK298512 EMBL AK316357 http://www.ebi.ac.uk/ena/data/view/AK316357 EMBL AY094595 http://www.ebi.ac.uk/ena/data/view/AY094595 EMBL AY358560 http://www.ebi.ac.uk/ena/data/view/AY358560 EMBL BC084580 http://www.ebi.ac.uk/ena/data/view/BC084580 EMBL BC126283 http://www.ebi.ac.uk/ena/data/view/BC126283 EMBL BC126285 http://www.ebi.ac.uk/ena/data/view/BC126285 Ensembl ENST00000373709 http://www.ensembl.org/id/ENST00000373709 Ensembl ENST00000373710 http://www.ensembl.org/id/ENST00000373710 Ensembl ENST00000536384 http://www.ensembl.org/id/ENST00000536384 Ensembl ENST00000536859 http://www.ensembl.org/id/ENST00000536859 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0015194 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015194 GO_process GO:0006658 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006658 GO_process GO:0006665 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006665 GO_process GO:1904219 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1904219 GO_process GO:1904222 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1904222 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006629 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006629 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GeneCards SERINC2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SERINC2 GeneID 347735 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=347735 GeneTree ENSGT00550000074522 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074522 H-InvDB HIX0000354 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0000354 HGNC HGNC:23231 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:23231 HOGENOM HOG000165463 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000165463&db=HOGENOM6 HOVERGEN HBG025699 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG025699&db=HOVERGEN HPA HPA005974 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA005974 InParanoid Q96SA4 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q96SA4 InterPro IPR005016 http://www.ebi.ac.uk/interpro/entry/IPR005016 InterPro IPR029554 http://www.ebi.ac.uk/interpro/entry/IPR029554 Jabion 347735 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=347735 KEGG_Gene hsa:347735 http://www.genome.jp/dbget-bin/www_bget?hsa:347735 MIM 614549 http://www.ncbi.nlm.nih.gov/omim/614549 OMA PEQKCNP http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=PEQKCNP OrthoDB EOG091G07WS http://cegg.unige.ch/orthodb/results?searchtext=EOG091G07WS PANTHER PTHR10383 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10383 PANTHER PTHR10383:SF22 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10383:SF22 PSORT swissprot:SERC2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SERC2_HUMAN PSORT-B swissprot:SERC2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SERC2_HUMAN PSORT2 swissprot:SERC2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SERC2_HUMAN Pfam PF03348 http://pfam.xfam.org/family/PF03348 PharmGKB PA134933002 http://www.pharmgkb.org/do/serve?objId=PA134933002&objCls=Gene Phobius swissprot:SERC2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SERC2_HUMAN ProteinModelPortal Q96SA4 http://www.proteinmodelportal.org/query/uniprot/Q96SA4 PubMed 12975309 http://www.ncbi.nlm.nih.gov/pubmed/12975309 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 Reactome R-HSA-977347 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-977347 RefSeq NP_001185966 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001185966 RefSeq NP_001185967 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001185967 RefSeq NP_001185968 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001185968 RefSeq NP_061035 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_061035 RefSeq NP_849196 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_849196 STRING 9606.ENSP00000362814 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000362814&targetmode=cogs UCSC uc001bst http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001bst&org=rat UniGene Hs.270655 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.270655 UniProtKB SERC2_HUMAN http://www.uniprot.org/uniprot/SERC2_HUMAN UniProtKB-AC Q96SA4 http://www.uniprot.org/uniprot/Q96SA4 charge swissprot:SERC2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SERC2_HUMAN eggNOG ENOG410XP7K http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XP7K eggNOG KOG2592 http://eggnogapi.embl.de/nog_data/html/tree/KOG2592 epestfind swissprot:SERC2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SERC2_HUMAN garnier swissprot:SERC2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SERC2_HUMAN helixturnhelix swissprot:SERC2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SERC2_HUMAN hmoment swissprot:SERC2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SERC2_HUMAN iep swissprot:SERC2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SERC2_HUMAN inforesidue swissprot:SERC2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SERC2_HUMAN neXtProt NX_Q96SA4 http://www.nextprot.org/db/entry/NX_Q96SA4 octanol swissprot:SERC2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SERC2_HUMAN pepcoil swissprot:SERC2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SERC2_HUMAN pepdigest swissprot:SERC2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SERC2_HUMAN pepinfo swissprot:SERC2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SERC2_HUMAN pepnet swissprot:SERC2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SERC2_HUMAN pepstats swissprot:SERC2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SERC2_HUMAN pepwheel swissprot:SERC2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SERC2_HUMAN pepwindow swissprot:SERC2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SERC2_HUMAN sigcleave swissprot:SERC2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SERC2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS CA2D3_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q8IZS8-1; Sequence=Displayed; Name=2; IsoId=Q8IZS8-2; Sequence=VSP_028064; Name=3; IsoId=Q8IZS8-3; Sequence=VSP_028064, VSP_028065, VSP_028066, VSP_028067; # AltName CA2D3_HUMAN Voltage-gated calcium channel subunit alpha-2/delta-3 # AltName CA2D3_HUMAN Voltage-gated calcium channel subunit alpha-2/delta-3 # CCDS CCDS54598 -. [Q8IZS8-1] # ChiTaRS CACNA2D3 human # DOMAIN CA2D3_HUMAN The MIDAS-like motif in the VWFA domain binds divalent metal cations and is required to promote trafficking of the alpha- 1 (CACNA1) subunit to the plasma membrane by an integrin-like switch. {ECO 0000250}. # DrugBank DB00381 Amlodipine # DrugBank DB00421 Spironolactone # DrugBank DB06712 Nilvadipine # Ensembl ENST00000288197 ENSP00000288197; ENSG00000157445. [Q8IZS8-1] # Ensembl ENST00000415676 ENSP00000389506; ENSG00000157445. [Q8IZS8-1] # Ensembl ENST00000471363 ENSP00000418228; ENSG00000157445. [Q8IZS8-3] # Ensembl ENST00000474759 ENSP00000419101; ENSG00000157445. [Q8IZS8-1] # Ensembl ENST00000490478 ENSP00000417279; ENSG00000157445. [Q8IZS8-2] # Ensembl ENST00000620722 ENSP00000478969; ENSG00000157445. [Q8IZS8-3] # ExpressionAtlas Q8IZS8 baseline and differential # FUNCTION CA2D3_HUMAN The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel. Acts as a regulatory subunit for P/Q-type calcium channel (CACNA1A), N-type (CACNA1B), L-type (CACNA1C OR CACNA1D) but not T-type (CACNA1G) (By similarity). {ECO 0000250}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005891 voltage-gated calcium channel complex; IBA:GO_Central. # GO_function GO:0005244 voltage-gated ion channel activity; IEA:UniProtKB-KW. # GO_function GO:0005246 calcium channel regulator activity; IBA:GO_Central. # GO_function GO:0005262 calcium channel activity; IEA:UniProtKB-KW. # GO_function GO:0046872 metal ion binding; IEA:UniProtKB-KW. # GO_process GO:0051924 regulation of calcium ion transport; IBA:GO_Central. # GO_process GO:0061337 cardiac conduction; TAS:Reactome. # GO_process GO:0070588 calcium ion transmembrane transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0008150 biological_process # GOslim_process GO:0055085 transmembrane transport # Gene3D 3.40.50.410 -; 1. # Genevisible Q8IZS8 HS # HGNC HGNC:15460 CACNA2D3 # InterPro IPR002035 VWF_A # InterPro IPR013608 VWA_N # InterPro IPR013680 VDCC_a2/dsu # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04010 MAPK signaling pathway # KEGG_Pathway ko04260 Cardiac muscle contraction # KEGG_Pathway ko05410 Hypertrophic cardiomyopathy (HCM) # KEGG_Pathway ko05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC) # KEGG_Pathway ko05414 Dilated cardiomyopathy # MIM 606399 gene # MISCELLANEOUS CA2D3_HUMAN In contrast to CACNA2D1 and CACNA2D2, it does not bind gabapentin, an antiepileptic drug. # Organism CA2D3_HUMAN Homo sapiens (Human) # PROSITE PS50234 VWFA # PTM CA2D3_HUMAN May be proteolytically processed into subunits alpha-2-3 and delta-3 that are disulfide-linked. It is however unclear whether such cleavage really takes place in vivo and has a functional role (By similarity). {ECO 0000250}. # PTM CA2D3_HUMAN N-glycosylated. {ECO 0000250}. # Pfam PF08399 VWA_N # Pfam PF08473 VGCC_alpha2 # Pfam PF13768 VWA_3 # Proteomes UP000005640 Chromosome 3 # Reactome R-HSA-112308 Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels # Reactome R-HSA-5576892 Phase 0 - rapid depolarisation # Reactome R-HSA-5576893 Phase 2 - plateau phase # Reactome R-HSA-5576894 Phase 1 - inactivation of fast Na+ channels # RecName CA2D3_HUMAN Voltage-dependent calcium channel subunit alpha-2-3 # RecName CA2D3_HUMAN Voltage-dependent calcium channel subunit alpha-2-3 # RecName CA2D3_HUMAN Voltage-dependent calcium channel subunit alpha-2/delta-3 # RecName CA2D3_HUMAN Voltage-dependent calcium channel subunit delta-3 # RefSeq NP_060868 NM_018398.2. [Q8IZS8-1] # SIMILARITY Belongs to the calcium channel subunit alpha-2/delta family. {ECO 0000305}. # SIMILARITY Contains 1 VWFA domain. {ECO:0000255|PROSITE- ProRule PRU00219}. # SIMILARITY Contains 1 cache domain. {ECO 0000305}. # SMART SM00327 VWA # SUBCELLULAR LOCATION CA2D3_HUMAN Membrane {ECO 0000305}; Single-pass type I membrane protein {ECO 0000305}. # SUBUNIT CA2D3_HUMAN Dimer formed of alpha-2-2 and delta-2 chains; disulfide- linked. Voltage-dependent calcium channels are multisubunit complexes, consisting of alpha-1 (CACNA1), alpha-2 (CACNA2D), beta (CACNB) and delta (CACNA2D) subunits in a 1 1 1 1 ratio (By similarity). {ECO 0000250}. # SUPFAM SSF53300 SSF53300 # TCDB 8.A.18.3 the ca(2+) channel auxiliary subunit Alpha2Delta types 1-4 (cca-Alpha2Delta) family # TISSUE SPECIFICITY CA2D3_HUMAN Only detected in brain. Not present in lung, testis, aorta, spleen, jejunum, ventricular muscle and kidney (at protein level). According to PubMed 11687876, it is brain- specific, while according to PubMed 11245980, it is widely expressed. {ECO 0000269|PubMed 11687876}. # UCSC uc003dhf human. [Q8IZS8-1] # eggNOG ENOG410XPDX LUCA # eggNOG KOG2353 Eukaryota BLAST swissprot:CA2D3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CA2D3_HUMAN COXPRESdb 55799 http://coxpresdb.jp/data/gene/55799.shtml CleanEx HS_CACNA2D3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CACNA2D3 DOI 10.1007/s00232-001-0072-7 http://dx.doi.org/10.1007/s00232-001-0072-7 DOI 10.1016/S0378-1119(00)00600-4 http://dx.doi.org/10.1016/S0378-1119(00)00600-4 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1124/mol.62.3.485 http://dx.doi.org/10.1124/mol.62.3.485 DrugBank DB00381 http://www.drugbank.ca/drugs/DB00381 DrugBank DB00421 http://www.drugbank.ca/drugs/DB00421 DrugBank DB06712 http://www.drugbank.ca/drugs/DB06712 EMBL AF516696 http://www.ebi.ac.uk/ena/data/view/AF516696 EMBL AJ272213 http://www.ebi.ac.uk/ena/data/view/AJ272213 EMBL AJ272268 http://www.ebi.ac.uk/ena/data/view/AJ272268 EMBL BC137502 http://www.ebi.ac.uk/ena/data/view/BC137502 EMBL BC137505 http://www.ebi.ac.uk/ena/data/view/BC137505 Ensembl ENST00000288197 http://www.ensembl.org/id/ENST00000288197 Ensembl ENST00000415676 http://www.ensembl.org/id/ENST00000415676 Ensembl ENST00000471363 http://www.ensembl.org/id/ENST00000471363 Ensembl ENST00000474759 http://www.ensembl.org/id/ENST00000474759 Ensembl ENST00000490478 http://www.ensembl.org/id/ENST00000490478 Ensembl ENST00000620722 http://www.ensembl.org/id/ENST00000620722 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005891 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005891 GO_function GO:0005244 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005244 GO_function GO:0005246 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005246 GO_function GO:0005262 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005262 GO_function GO:0046872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046872 GO_process GO:0051924 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051924 GO_process GO:0061337 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061337 GO_process GO:0070588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070588 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 3.40.50.410 http://www.cathdb.info/version/latest/superfamily/3.40.50.410 GeneCards CACNA2D3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CACNA2D3 GeneID 55799 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=55799 GeneTree ENSGT00530000062904 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000062904 HGNC HGNC:15460 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:15460 HOGENOM HOG000010247 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000010247&db=HOGENOM6 HOVERGEN HBG107124 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG107124&db=HOVERGEN HPA HPA030849 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA030849 HPA HPA030850 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA030850 InParanoid Q8IZS8 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8IZS8 InterPro IPR002035 http://www.ebi.ac.uk/interpro/entry/IPR002035 InterPro IPR013608 http://www.ebi.ac.uk/interpro/entry/IPR013608 InterPro IPR013680 http://www.ebi.ac.uk/interpro/entry/IPR013680 Jabion 55799 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=55799 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:55799 http://www.genome.jp/dbget-bin/www_bget?hsa:55799 KEGG_Orthology KO:K04860 http://www.genome.jp/dbget-bin/www_bget?KO:K04860 KEGG_Pathway ko04010 http://www.genome.jp/kegg-bin/show_pathway?ko04010 KEGG_Pathway ko04260 http://www.genome.jp/kegg-bin/show_pathway?ko04260 KEGG_Pathway ko05410 http://www.genome.jp/kegg-bin/show_pathway?ko05410 KEGG_Pathway ko05412 http://www.genome.jp/kegg-bin/show_pathway?ko05412 KEGG_Pathway ko05414 http://www.genome.jp/kegg-bin/show_pathway?ko05414 MIM 606399 http://www.ncbi.nlm.nih.gov/omim/606399 OMA AALDGKC http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=AALDGKC OrthoDB EOG091G00UY http://cegg.unige.ch/orthodb/results?searchtext=EOG091G00UY PROSITE PS50234 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50234 PSORT swissprot:CA2D3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CA2D3_HUMAN PSORT-B swissprot:CA2D3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CA2D3_HUMAN PSORT2 swissprot:CA2D3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CA2D3_HUMAN Pfam PF08399 http://pfam.xfam.org/family/PF08399 Pfam PF08473 http://pfam.xfam.org/family/PF08473 Pfam PF13768 http://pfam.xfam.org/family/PF13768 PharmGKB PA26013 http://www.pharmgkb.org/do/serve?objId=PA26013&objCls=Gene Phobius swissprot:CA2D3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CA2D3_HUMAN PhylomeDB Q8IZS8 http://phylomedb.org/?seqid=Q8IZS8 ProteinModelPortal Q8IZS8 http://www.proteinmodelportal.org/query/uniprot/Q8IZS8 PubMed 11245980 http://www.ncbi.nlm.nih.gov/pubmed/11245980 PubMed 11687876 http://www.ncbi.nlm.nih.gov/pubmed/11687876 PubMed 12181424 http://www.ncbi.nlm.nih.gov/pubmed/12181424 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 Reactome R-HSA-112308 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-112308 Reactome R-HSA-5576892 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576892 Reactome R-HSA-5576893 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576893 Reactome R-HSA-5576894 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576894 RefSeq NP_060868 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_060868 SMART SM00327 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00327 STRING 9606.ENSP00000419101 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000419101&targetmode=cogs SUPFAM SSF53300 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF53300 TCDB 8.A.18.3 http://www.tcdb.org/search/result.php?tc=8.A.18.3 UCSC uc003dhf http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003dhf&org=rat UniGene Hs.656687 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.656687 UniProtKB CA2D3_HUMAN http://www.uniprot.org/uniprot/CA2D3_HUMAN UniProtKB-AC Q8IZS8 http://www.uniprot.org/uniprot/Q8IZS8 charge swissprot:CA2D3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CA2D3_HUMAN eggNOG ENOG410XPDX http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XPDX eggNOG KOG2353 http://eggnogapi.embl.de/nog_data/html/tree/KOG2353 epestfind swissprot:CA2D3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CA2D3_HUMAN garnier swissprot:CA2D3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CA2D3_HUMAN helixturnhelix swissprot:CA2D3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CA2D3_HUMAN hmoment swissprot:CA2D3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CA2D3_HUMAN iep swissprot:CA2D3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CA2D3_HUMAN inforesidue swissprot:CA2D3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CA2D3_HUMAN neXtProt NX_Q8IZS8 http://www.nextprot.org/db/entry/NX_Q8IZS8 octanol swissprot:CA2D3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CA2D3_HUMAN pepcoil swissprot:CA2D3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CA2D3_HUMAN pepdigest swissprot:CA2D3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CA2D3_HUMAN pepinfo swissprot:CA2D3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CA2D3_HUMAN pepnet swissprot:CA2D3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CA2D3_HUMAN pepstats swissprot:CA2D3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CA2D3_HUMAN pepwheel swissprot:CA2D3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CA2D3_HUMAN pepwindow swissprot:CA2D3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CA2D3_HUMAN sigcleave swissprot:CA2D3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CA2D3_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S6A13_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9NSD5-1; Sequence=Displayed; Name=2; IsoId=Q9NSD5-2; Sequence=VSP_043070; Note=No experimental confirmation available.; Name=3; IsoId=Q9NSD5-3; Sequence=VSP_044887, VSP_044888; # AltName S6A13_HUMAN Solute carrier family 6 member 13 # BIOPHYSICOCHEMICAL PROPERTIES S6A13_HUMAN Kinetic parameters KM=3.7 uM for GABA {ECO 0000269|PubMed 17502375}; KM=20.2 uM for beta-alanine {ECO 0000269|PubMed 17502375}; # CCDS CCDS53729 -. [Q9NSD5-2] # CCDS CCDS58198 -. [Q9NSD5-3] # CCDS CCDS8502 -. [Q9NSD5-1] # Ensembl ENST00000343164 ENSP00000339260; ENSG00000010379. [Q9NSD5-1] # Ensembl ENST00000436453 ENSP00000389316; ENSG00000010379. [Q9NSD5-3] # Ensembl ENST00000445055 ENSP00000407104; ENSG00000010379. [Q9NSD5-2] # ExpressionAtlas Q9NSD5 baseline and differential # FUNCTION S6A13_HUMAN Sodium-dependent GABA and taurine transporter. In presynaptic terminals, regulates GABA signaling termination through GABA uptake. May also be involved in beta-alanine transport. {ECO 0000269|PubMed 17502375, ECO 0000269|PubMed 22932902}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0043005 neuron projection; IBA:GO_Central. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function S6A13_HUMAN GO 0005328 neurotransmitter sodium symporter activity; IEA InterPro. # GO_function S6A13_HUMAN GO 0005332 gamma-aminobutyric acid sodium symporter activity; IBA GO_Central. # GO_process GO:0006836 neurotransmitter transport; IBA:GO_Central. # GO_process GO:0007268 chemical synaptic transmission; IBA:GO_Central. # GO_process GO:0015812 gamma-aminobutyric acid transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007267 cell-cell signaling # Genevisible Q9NSD5 HS # HGNC HGNC:11046 SLC6A13 # InterPro IPR000175 Na/ntran_symport # InterPro IPR002981 Na/ntran_symport_GABA_GAT2 # KEGG_Brite ko02001 Solute carrier family # KEGG_Brite ko04040 Ion channels # MIM 615097 gene # Organism S6A13_HUMAN Homo sapiens (Human) # PANTHER PTHR11616 PTHR11616 # PRINTS PR00176 NANEUSMPORT # PRINTS PR01196 GAT2TRNSPORT # PROSITE PS00610 NA_NEUROTRAN_SYMP_1 # PROSITE PS00754 NA_NEUROTRAN_SYMP_2 # PROSITE PS50267 NA_NEUROTRAN_SYMP_3 # Pfam PF00209 SNF # Proteomes UP000005640 Chromosome 12 # Reactome R-HSA-442660 Na+/Cl- dependent neurotransmitter transporters # Reactome R-HSA-888593 Reuptake of GABA # RecName S6A13_HUMAN Sodium- and chloride-dependent GABA transporter 2 # RefSeq NP_001177926 NM_001190997.2. [Q9NSD5-2] # RefSeq NP_001230321 NM_001243392.1. [Q9NSD5-3] # RefSeq NP_057699 NM_016615.4. [Q9NSD5-1] # SEQUENCE CAUTION Sequence=AAF64247.1; Type=Frameshift; Positions=542; Evidence={ECO 0000305}; # SIMILARITY Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A13 subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION S6A13_HUMAN Cell membrane {ECO 0000269|PubMed 22932902}; Multi-pass membrane protein {ECO 0000269|PubMed 22932902}. # TCDB 2.A.22.3.10:the neurotransmitter sodium symporter (nss) family # TISSUE SPECIFICITY S6A13_HUMAN Expressed in brain, kidney, lung, liver and testis. {ECO 0000269|PubMed 11824941, ECO 0000269|PubMed 17502375}. # UCSC uc001qic human. [Q9NSD5-1] # eggNOG COG0733 LUCA # eggNOG KOG3659 Eukaryota BLAST swissprot:S6A13_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S6A13_HUMAN BioCyc ZFISH:ENSG00000010379-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000010379-MONOMER COXPRESdb 6540 http://coxpresdb.jp/data/gene/6540.shtml CleanEx HS_SLC6A13 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC6A13 DOI 10.1038/nature04569 http://dx.doi.org/10.1038/nature04569 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.M112.388157 http://dx.doi.org/10.1074/jbc.M112.388157 DOI 10.1074/jbc.M702111200 http://dx.doi.org/10.1074/jbc.M702111200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1139/y01-082 http://dx.doi.org/10.1139/y01-082 EMBL AC007406 http://www.ebi.ac.uk/ena/data/view/AC007406 EMBL AF462445 http://www.ebi.ac.uk/ena/data/view/AF462445 EMBL AK296127 http://www.ebi.ac.uk/ena/data/view/AK296127 EMBL AK313511 http://www.ebi.ac.uk/ena/data/view/AK313511 EMBL BC020867 http://www.ebi.ac.uk/ena/data/view/BC020867 EMBL BC022392 http://www.ebi.ac.uk/ena/data/view/BC022392 EMBL CH471116 http://www.ebi.ac.uk/ena/data/view/CH471116 EMBL U76343 http://www.ebi.ac.uk/ena/data/view/U76343 Ensembl ENST00000343164 http://www.ensembl.org/id/ENST00000343164 Ensembl ENST00000436453 http://www.ensembl.org/id/ENST00000436453 Ensembl ENST00000445055 http://www.ensembl.org/id/ENST00000445055 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0043005 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043005 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0005328 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005328 GO_function GO:0005332 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005332 GO_process GO:0006836 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006836 GO_process GO:0007268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007268 GO_process GO:0015812 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015812 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GeneCards SLC6A13 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC6A13 GeneID 6540 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6540 GeneTree ENSGT00760000118857 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118857 HGNC HGNC:11046 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11046 HOGENOM HOG000150680 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000150680&db=HOGENOM6 HOVERGEN HBG071421 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG071421&db=HOVERGEN HPA HPA052726 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA052726 InParanoid Q9NSD5 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9NSD5 IntAct Q9NSD5 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9NSD5* InterPro IPR000175 http://www.ebi.ac.uk/interpro/entry/IPR000175 InterPro IPR002981 http://www.ebi.ac.uk/interpro/entry/IPR002981 Jabion 6540 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6540 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:6540 http://www.genome.jp/dbget-bin/www_bget?hsa:6540 KEGG_Orthology KO:K05039 http://www.genome.jp/dbget-bin/www_bget?KO:K05039 MIM 615097 http://www.ncbi.nlm.nih.gov/omim/615097 OMA GGCHHEW http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=GGCHHEW OrthoDB EOG091G08PX http://cegg.unige.ch/orthodb/results?searchtext=EOG091G08PX PANTHER PTHR11616 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11616 PRINTS PR00176 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00176 PRINTS PR01196 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01196 PROSITE PS00610 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00610 PROSITE PS00754 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00754 PROSITE PS50267 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50267 PSORT swissprot:S6A13_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S6A13_HUMAN PSORT-B swissprot:S6A13_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S6A13_HUMAN PSORT2 swissprot:S6A13_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S6A13_HUMAN Pfam PF00209 http://pfam.xfam.org/family/PF00209 PharmGKB PA35909 http://www.pharmgkb.org/do/serve?objId=PA35909&objCls=Gene Phobius swissprot:S6A13_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S6A13_HUMAN PhylomeDB Q9NSD5 http://phylomedb.org/?seqid=Q9NSD5 ProteinModelPortal Q9NSD5 http://www.proteinmodelportal.org/query/uniprot/Q9NSD5 PubMed 11824941 http://www.ncbi.nlm.nih.gov/pubmed/11824941 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16541075 http://www.ncbi.nlm.nih.gov/pubmed/16541075 PubMed 17502375 http://www.ncbi.nlm.nih.gov/pubmed/17502375 PubMed 22932902 http://www.ncbi.nlm.nih.gov/pubmed/22932902 Reactome R-HSA-442660 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-442660 Reactome R-HSA-888593 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-888593 RefSeq NP_001177926 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001177926 RefSeq NP_001230321 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001230321 RefSeq NP_057699 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_057699 SMR Q9NSD5 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9NSD5 STRING 9606.ENSP00000339260 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000339260&targetmode=cogs TCDB 2.A.22.3.10 http://www.tcdb.org/search/result.php?tc=2.A.22.3.10 UCSC uc001qic http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001qic&org=rat UniGene Hs.504398 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.504398 UniGene Hs.733878 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.733878 UniProtKB S6A13_HUMAN http://www.uniprot.org/uniprot/S6A13_HUMAN UniProtKB-AC Q9NSD5 http://www.uniprot.org/uniprot/Q9NSD5 charge swissprot:S6A13_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S6A13_HUMAN eggNOG COG0733 http://eggnogapi.embl.de/nog_data/html/tree/COG0733 eggNOG KOG3659 http://eggnogapi.embl.de/nog_data/html/tree/KOG3659 epestfind swissprot:S6A13_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S6A13_HUMAN garnier swissprot:S6A13_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S6A13_HUMAN helixturnhelix swissprot:S6A13_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S6A13_HUMAN hmoment swissprot:S6A13_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S6A13_HUMAN iep swissprot:S6A13_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S6A13_HUMAN inforesidue swissprot:S6A13_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S6A13_HUMAN neXtProt NX_Q9NSD5 http://www.nextprot.org/db/entry/NX_Q9NSD5 octanol swissprot:S6A13_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S6A13_HUMAN pepcoil swissprot:S6A13_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S6A13_HUMAN pepdigest swissprot:S6A13_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S6A13_HUMAN pepinfo swissprot:S6A13_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S6A13_HUMAN pepnet swissprot:S6A13_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S6A13_HUMAN pepstats swissprot:S6A13_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S6A13_HUMAN pepwheel swissprot:S6A13_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S6A13_HUMAN pepwindow swissprot:S6A13_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S6A13_HUMAN sigcleave swissprot:S6A13_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S6A13_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS CHMP7_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8WUX9-1; Sequence=Displayed; Name=2; IsoId=Q8WUX9-2; Sequence=VSP_056945, VSP_056946; Note=No experimental confirmation available.; # AltName CHMP7_HUMAN Chromatin-modifying protein 7 # BioGrid 124879 11 # CCDS CCDS6040 -. [Q8WUX9-1] # ChiTaRS CHMP7 human # Ensembl ENST00000313219 ENSP00000324491; ENSG00000147457. [Q8WUX9-1] # Ensembl ENST00000397677 ENSP00000380794; ENSG00000147457. [Q8WUX9-1] # Ensembl ENST00000519503 ENSP00000427948; ENSG00000147457. [Q8WUX9-2] # ExpressionAtlas Q8WUX9 baseline and differential # FUNCTION CHMP7_HUMAN ESCRT-III-like protein required to recruit the ESCRT-III complex to the nuclear envelope during late anaphase (PubMed 26040712). Together with SPAST, the ESCRT-III complex promotes nuclear envelope sealing and mitotic spindle disassembly during late anaphase (PubMed 26040712). Plays a role in the endosomal sorting pathway (PubMed 16856878). {ECO 0000269|PubMed 16856878, ECO 0000269|PubMed 26040712}. # GO_component GO:0000815 ESCRT III complex; IDA:UniProtKB. # GO_component GO:0005635 nuclear envelope; IDA:UniProtKB. # GO_component GO:0005829 cytosol; TAS:Reactome. # GO_function GO:0008565 protein transporter activity; IMP:UniProtKB. # GO_process GO:0000920 cell separation after cytokinesis; IMP:UniProtKB. # GO_process GO:0006997 nucleus organization; IMP:UniProtKB. # GO_process GO:0007080 mitotic metaphase plate congression; IMP:UniProtKB. # GO_process GO:0010458 exit from mitosis; IMP:UniProtKB. # GO_process GO:0016197 endosomal transport; TAS:Reactome. # GO_process GO:0019058 viral life cycle; TAS:Reactome. # GO_process GO:0031468 nuclear envelope reassembly; IMP:UniProtKB. # GO_process GO:0036258 multivesicular body assembly; NAS:ParkinsonsUK-UCL. # GO_process GO:0039702 viral budding via host ESCRT complex; NAS:ParkinsonsUK-UCL. # GO_process GO:0045324 late endosome to vacuole transport; IMP:UniProtKB. # GO_process GO:1904903 ESCRT III complex disassembly; NAS:ParkinsonsUK-UCL. # GOslim_component GO:0005635 nuclear envelope # GOslim_component GO:0005829 cytosol # GOslim_component GO:0043234 protein complex # GOslim_function GO:0008565 protein transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007034 vacuolar transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0022607 cellular component assembly # GOslim_process GO:0044403 symbiosis, encompassing mutualism through parasitism # GOslim_process GO:0061024 membrane organization # Genevisible Q8WUX9 HS # HGNC HGNC:28439 CHMP7 # INTERACTION CHMP7_HUMAN Q9H444 CHMP4B; NbExp=3; IntAct=EBI-749253, EBI-749627; # IntAct Q8WUX9 6 # InterPro IPR005024 Snf7_fam # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Pathway ko04144 Endocytosis # MIM 611130 gene # Organism CHMP7_HUMAN Homo sapiens (Human) # Pfam PF03357 Snf7 # Proteomes UP000005640 Chromosome 8 # Reactome R-HSA-162588 Budding and maturation of HIV virion # Reactome R-HSA-1632852 Macroautophagy # Reactome R-HSA-917729 Endosomal Sorting Complex Required For Transport (ESCRT) # RecName CHMP7_HUMAN Charged multivesicular body protein 7 # RefSeq NP_689485 NM_152272.4. [Q8WUX9-1] # SIMILARITY Belongs to the SNF7 family. {ECO 0000305}. # SUBCELLULAR LOCATION CHMP7_HUMAN Cytoplasm {ECO 0000269|PubMed 16856878}. Nucleus envelope {ECO 0000269|PubMed 26040712}. Note=Diffused localization, with some punctate distribution, especially in the perinuclear area (PubMed 16856878). Localizes to the nucleus envelope during late anaphase (PubMed 26040712). {ECO 0000269|PubMed 16856878, ECO 0000269|PubMed 26040712}. # SUBUNIT Interacts with CHMP4B, but not with VPS25. {ECO:0000269|PubMed 16856878}. # UCSC uc003xdc human. [Q8WUX9-1] # eggNOG ENOG4110IXB LUCA # eggNOG KOG2911 Eukaryota BLAST swissprot:CHMP7_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CHMP7_HUMAN BioCyc ZFISH:ENSG00000147457-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000147457-MONOMER COXPRESdb 91782 http://coxpresdb.jp/data/gene/91782.shtml CleanEx HS_CHMP7 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CHMP7 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature04406 http://dx.doi.org/10.1038/nature04406 DOI 10.1038/nature14408 http://dx.doi.org/10.1038/nature14408 DOI 10.1038/nbt1240 http://dx.doi.org/10.1038/nbt1240 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1042/BJ20060897 http://dx.doi.org/10.1042/BJ20060897 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/scisignal.2000007 http://dx.doi.org/10.1126/scisignal.2000007 DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 DOI 10.1126/scisignal.2001570 http://dx.doi.org/10.1126/scisignal.2001570 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AC100861 http://www.ebi.ac.uk/ena/data/view/AC100861 EMBL AK296592 http://www.ebi.ac.uk/ena/data/view/AK296592 EMBL AK315664 http://www.ebi.ac.uk/ena/data/view/AK315664 EMBL AL833843 http://www.ebi.ac.uk/ena/data/view/AL833843 EMBL BC004344 http://www.ebi.ac.uk/ena/data/view/BC004344 EMBL BC019110 http://www.ebi.ac.uk/ena/data/view/BC019110 EMBL BC042050 http://www.ebi.ac.uk/ena/data/view/BC042050 EMBL CH471080 http://www.ebi.ac.uk/ena/data/view/CH471080 EMBL CH471080 http://www.ebi.ac.uk/ena/data/view/CH471080 Ensembl ENST00000313219 http://www.ensembl.org/id/ENST00000313219 Ensembl ENST00000397677 http://www.ensembl.org/id/ENST00000397677 Ensembl ENST00000519503 http://www.ensembl.org/id/ENST00000519503 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000815 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000815 GO_component GO:0005635 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005635 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GO_process GO:0000920 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000920 GO_process GO:0006997 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006997 GO_process GO:0007080 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007080 GO_process GO:0010458 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010458 GO_process GO:0016197 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016197 GO_process GO:0019058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019058 GO_process GO:0031468 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031468 GO_process GO:0036258 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0036258 GO_process GO:0039702 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0039702 GO_process GO:0045324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045324 GO_process GO:1904903 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1904903 GOslim_component GO:0005635 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005635 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007034 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007034 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0022607 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022607 GOslim_process GO:0044403 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044403 GOslim_process GO:0061024 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061024 GeneCards CHMP7 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CHMP7 GeneID 91782 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=91782 GeneTree ENSGT00720000108860 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00720000108860 HGNC HGNC:28439 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:28439 HOGENOM HOG000290682 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000290682&db=HOGENOM6 HOVERGEN HBG081151 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG081151&db=HOVERGEN HPA HPA036119 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA036119 InParanoid Q8WUX9 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8WUX9 IntAct Q8WUX9 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q8WUX9* InterPro IPR005024 http://www.ebi.ac.uk/interpro/entry/IPR005024 Jabion 91782 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=91782 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00002 http://www.genome.jp/dbget-bin/www_bget?ko00002 KEGG_Gene hsa:91782 http://www.genome.jp/dbget-bin/www_bget?hsa:91782 KEGG_Orthology KO:K15053 http://www.genome.jp/dbget-bin/www_bget?KO:K15053 KEGG_Pathway ko04144 http://www.genome.jp/kegg-bin/show_pathway?ko04144 MIM 611130 http://www.ncbi.nlm.nih.gov/omim/611130 MINT MINT-1460844 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1460844 OMA MAKTYLR http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=MAKTYLR OrthoDB EOG091G09H0 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G09H0 PSORT swissprot:CHMP7_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CHMP7_HUMAN PSORT-B swissprot:CHMP7_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CHMP7_HUMAN PSORT2 swissprot:CHMP7_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CHMP7_HUMAN Pfam PF03357 http://pfam.xfam.org/family/PF03357 PharmGKB PA142672115 http://www.pharmgkb.org/do/serve?objId=PA142672115&objCls=Gene Phobius swissprot:CHMP7_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CHMP7_HUMAN PhylomeDB Q8WUX9 http://phylomedb.org/?seqid=Q8WUX9 ProteinModelPortal Q8WUX9 http://www.proteinmodelportal.org/query/uniprot/Q8WUX9 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16421571 http://www.ncbi.nlm.nih.gov/pubmed/16421571 PubMed 16856878 http://www.ncbi.nlm.nih.gov/pubmed/16856878 PubMed 16964243 http://www.ncbi.nlm.nih.gov/pubmed/16964243 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 19690332 http://www.ncbi.nlm.nih.gov/pubmed/19690332 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 21406692 http://www.ncbi.nlm.nih.gov/pubmed/21406692 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 26040712 http://www.ncbi.nlm.nih.gov/pubmed/26040712 Reactome R-HSA-162588 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-162588 Reactome R-HSA-1632852 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1632852 Reactome R-HSA-917729 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-917729 RefSeq NP_689485 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_689485 SMR Q8WUX9 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q8WUX9 STRING 9606.ENSP00000324491 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000324491&targetmode=cogs UCSC uc003xdc http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003xdc&org=rat UniGene Hs.5019 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.5019 UniProtKB CHMP7_HUMAN http://www.uniprot.org/uniprot/CHMP7_HUMAN UniProtKB-AC Q8WUX9 http://www.uniprot.org/uniprot/Q8WUX9 charge swissprot:CHMP7_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CHMP7_HUMAN eggNOG ENOG4110IXB http://eggnogapi.embl.de/nog_data/html/tree/ENOG4110IXB eggNOG KOG2911 http://eggnogapi.embl.de/nog_data/html/tree/KOG2911 epestfind swissprot:CHMP7_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CHMP7_HUMAN garnier swissprot:CHMP7_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CHMP7_HUMAN helixturnhelix swissprot:CHMP7_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CHMP7_HUMAN hmoment swissprot:CHMP7_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CHMP7_HUMAN iep swissprot:CHMP7_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CHMP7_HUMAN inforesidue swissprot:CHMP7_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CHMP7_HUMAN neXtProt NX_Q8WUX9 http://www.nextprot.org/db/entry/NX_Q8WUX9 octanol swissprot:CHMP7_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CHMP7_HUMAN pepcoil swissprot:CHMP7_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CHMP7_HUMAN pepdigest swissprot:CHMP7_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CHMP7_HUMAN pepinfo swissprot:CHMP7_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CHMP7_HUMAN pepnet swissprot:CHMP7_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CHMP7_HUMAN pepstats swissprot:CHMP7_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CHMP7_HUMAN pepwheel swissprot:CHMP7_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CHMP7_HUMAN pepwindow swissprot:CHMP7_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CHMP7_HUMAN sigcleave swissprot:CHMP7_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CHMP7_HUMAN ## Database ID URL or Descriptions # AltName ABCD4_HUMAN PMP70-related protein # AltName ABCD4_HUMAN Peroxisomal membrane protein 1-like # AltName ABCD4_HUMAN Peroxisomal membrane protein 69 # BioGrid 111784 13 # ChiTaRS ABCD4 human # DISEASE ABCD4_HUMAN Methylmalonic aciduria and homocystinuria type cblJ (MAHCJ) [MIM 614857] A disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). Clinical features include feeding difficulties, poor growth, hypotonia, lethargy, anemia, and developmental delay. {ECO 0000269|PubMed 22922874}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000356924 ENSP00000349396; ENSG00000119688 # ExpressionAtlas O14678 baseline and differential # FUNCTION ABCD4_HUMAN May be involved in intracellular processing of vitamin B12 (cobalamin). Could play a role in the lysosomal release of vitamin B12 into the cytoplasm. {ECO 0000269|PubMed 22922874}. # GO_component GO:0005765 lysosomal membrane; TAS:Reactome. # GO_component GO:0005777 peroxisome; IDA:UniProtKB. # GO_component GO:0005778 peroxisomal membrane; IEA:UniProtKB-SubCell. # GO_component GO:0005789 endoplasmic reticulum membrane; IEA:Ensembl. # GO_component GO:0016021 integral component of membrane; NAS:UniProtKB. # GO_component GO:0043190 ATP-binding cassette (ABC) transporter complex; NAS:UniProtKB. # GO_function GO:0005524 ATP binding; NAS:UniProtKB. # GO_function GO:0042626 ATPase activity, coupled to transmembrane movement of substances; NAS:UniProtKB. # GO_process GO:0009235 cobalamin metabolic process; IMP:UniProtKB. # GO_process GO:0055085 transmembrane transport; NAS:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005777 peroxisome # GOslim_component GO:0043226 organelle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0044281 small molecule metabolic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 3.40.50.300 -; 2. # Genevisible O14678 HS # HGNC HGNC:68 ABCD4 # IntAct O14678 4 # InterPro IPR003439 ABC_transporter-like # InterPro IPR003593 AAA+_ATPase # InterPro IPR011527 ABC1_TM_dom # InterPro IPR017871 ABC_transporter_CS # InterPro IPR027417 P-loop_NTPase # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02000 Transporters # KEGG_Disease H00174 [Inherited metabolic disease; Nervous system disease] Methylmalonic aciduria (MMA) # KEGG_Pathway ko02010 ABC transporters # KEGG_Pathway ko04146 Peroxisome # MIM 603214 gene # MIM 614857 phenotype # Organism ABCD4_HUMAN Homo sapiens (Human) # Orphanet 369955 Methylmalonic acidemia with homocystinuria, type cblJ # PIR JC5604 JC5604 # PROSITE PS00211 ABC_TRANSPORTER_1 # PROSITE PS50893 ABC_TRANSPORTER_2 # PROSITE PS50929 ABC_TM1F # Pfam PF00005 ABC_tran # Pfam PF06472 ABC_membrane_2 # Proteomes UP000005640 Chromosome 14 # Reactome R-HSA-196741 Cobalamin (Cbl, vitamin B12) transport and metabolism # RecName ABCD4_HUMAN ATP-binding cassette sub-family D member 4 # RefSeq NP_005041 NM_005050.3 # SIMILARITY Belongs to the ABC transporter superfamily. ABCD family. Peroxisomal fatty acyl CoA transporter (TC 3.A.1.203) subfamily. {ECO 0000305}. # SIMILARITY Contains 1 ABC transmembrane type-1 domain. {ECO:0000255|PROSITE-ProRule PRU00441}. # SIMILARITY Contains 1 ABC transporter domain. {ECO:0000255|PROSITE-ProRule PRU00434}. # SMART SM00382 AAA # SUBCELLULAR LOCATION ABCD4_HUMAN Peroxisome membrane; Multi-pass membrane protein. # SUBUNIT Homodimer or heterodimer. {ECO 0000305}. # SUPFAM SSF52540 SSF52540 # SUPFAM SSF90123 SSF90123 # TCDB 3.A.1.203 the atp-binding cassette (abc) superfamily # TISSUE SPECIFICITY ABCD4_HUMAN Ubiquitous. # UCSC uc001xpr human # WEB RESOURCE ABCD4_HUMAN Name=ABCMdb; Note=Database for mutations in ABC proteins; URL="http //abcmutations.hegelab.org/proteinDetails?uniprot_id=O14678"; # eggNOG COG4178 LUCA # eggNOG KOG0060 Eukaryota BLAST swissprot:ABCD4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ABCD4_HUMAN BioCyc ZFISH:ENSG00000119688-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000119688-MONOMER COXPRESdb 5826 http://coxpresdb.jp/data/gene/5826.shtml CleanEx HS_ABCD4 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ABCD4 DOI 10.1006/bbrc.1997.7102 http://dx.doi.org/10.1006/bbrc.1997.7102 DOI 10.1007/s100380200041 http://dx.doi.org/10.1007/s100380200041 DOI 10.1016/S0014-5793(98)00354-8 http://dx.doi.org/10.1016/S0014-5793(98)00354-8 DOI 10.1038/ng.2386 http://dx.doi.org/10.1038/ng.2386 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1093/hmg/6.11.1925 http://dx.doi.org/10.1093/hmg/6.11.1925 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AF009746 http://www.ebi.ac.uk/ena/data/view/AF009746 EMBL AK291332 http://www.ebi.ac.uk/ena/data/view/AK291332 EMBL BC012815 http://www.ebi.ac.uk/ena/data/view/BC012815 EMBL BT007412 http://www.ebi.ac.uk/ena/data/view/BT007412 EMBL CR457104 http://www.ebi.ac.uk/ena/data/view/CR457104 EMBL Y14318 http://www.ebi.ac.uk/ena/data/view/Y14318 EMBL Y14319 http://www.ebi.ac.uk/ena/data/view/Y14319 EMBL Y14320 http://www.ebi.ac.uk/ena/data/view/Y14320 EMBL Y14321 http://www.ebi.ac.uk/ena/data/view/Y14321 EMBL Y14322 http://www.ebi.ac.uk/ena/data/view/Y14322 EMBL Y14323 http://www.ebi.ac.uk/ena/data/view/Y14323 Ensembl ENST00000356924 http://www.ensembl.org/id/ENST00000356924 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005765 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005765 GO_component GO:0005777 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005777 GO_component GO:0005778 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005778 GO_component GO:0005789 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005789 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0043190 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043190 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0042626 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042626 GO_process GO:0009235 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009235 GO_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005777 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005777 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 3.40.50.300 http://www.cathdb.info/version/latest/superfamily/3.40.50.300 GeneCards ABCD4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ABCD4 GeneID 5826 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=5826 GeneTree ENSGT00390000003950 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000003950 HGNC HGNC:68 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:68 HOGENOM HOG000007546 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000007546&db=HOGENOM6 HOVERGEN HBG106060 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG106060&db=HOVERGEN HPA HPA003396 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA003396 InParanoid O14678 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O14678 IntAct O14678 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O14678* InterPro IPR003439 http://www.ebi.ac.uk/interpro/entry/IPR003439 InterPro IPR003593 http://www.ebi.ac.uk/interpro/entry/IPR003593 InterPro IPR011527 http://www.ebi.ac.uk/interpro/entry/IPR011527 InterPro IPR017871 http://www.ebi.ac.uk/interpro/entry/IPR017871 InterPro IPR027417 http://www.ebi.ac.uk/interpro/entry/IPR027417 Jabion 5826 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=5826 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Disease H00174 http://www.genome.jp/dbget-bin/www_bget?H00174 KEGG_Gene hsa:5826 http://www.genome.jp/dbget-bin/www_bget?hsa:5826 KEGG_Orthology KO:K05678 http://www.genome.jp/dbget-bin/www_bget?KO:K05678 KEGG_Pathway ko02010 http://www.genome.jp/kegg-bin/show_pathway?ko02010 KEGG_Pathway ko04146 http://www.genome.jp/kegg-bin/show_pathway?ko04146 MIM 603214 http://www.ncbi.nlm.nih.gov/omim/603214 MIM 614857 http://www.ncbi.nlm.nih.gov/omim/614857 OMA FRARVYY http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=FRARVYY Orphanet 369955 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=369955 OrthoDB EOG091G03HJ http://cegg.unige.ch/orthodb/results?searchtext=EOG091G03HJ PROSITE PS00211 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00211 PROSITE PS50893 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50893 PROSITE PS50929 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50929 PSORT swissprot:ABCD4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ABCD4_HUMAN PSORT-B swissprot:ABCD4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ABCD4_HUMAN PSORT2 swissprot:ABCD4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ABCD4_HUMAN Pfam PF00005 http://pfam.xfam.org/family/PF00005 Pfam PF06472 http://pfam.xfam.org/family/PF06472 PharmGKB PA24403 http://www.pharmgkb.org/do/serve?objId=PA24403&objCls=Gene Phobius swissprot:ABCD4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ABCD4_HUMAN PhylomeDB O14678 http://phylomedb.org/?seqid=O14678 ProteinModelPortal O14678 http://www.proteinmodelportal.org/query/uniprot/O14678 PubMed 12111378 http://www.ncbi.nlm.nih.gov/pubmed/12111378 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 22922874 http://www.ncbi.nlm.nih.gov/pubmed/22922874 PubMed 9266848 http://www.ncbi.nlm.nih.gov/pubmed/9266848 PubMed 9302272 http://www.ncbi.nlm.nih.gov/pubmed/9302272 PubMed 9599016 http://www.ncbi.nlm.nih.gov/pubmed/9599016 Reactome R-HSA-196741 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-196741 RefSeq NP_005041 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_005041 SMART SM00382 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00382 STRING 9606.ENSP00000349396 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000349396&targetmode=cogs SUPFAM SSF52540 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52540 SUPFAM SSF90123 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF90123 TCDB 3.A.1.203 http://www.tcdb.org/search/result.php?tc=3.A.1.203 UCSC uc001xpr http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001xpr&org=rat UniGene Hs.94395 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.94395 UniProtKB ABCD4_HUMAN http://www.uniprot.org/uniprot/ABCD4_HUMAN UniProtKB-AC O14678 http://www.uniprot.org/uniprot/O14678 charge swissprot:ABCD4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ABCD4_HUMAN eggNOG COG4178 http://eggnogapi.embl.de/nog_data/html/tree/COG4178 eggNOG KOG0060 http://eggnogapi.embl.de/nog_data/html/tree/KOG0060 epestfind swissprot:ABCD4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ABCD4_HUMAN garnier swissprot:ABCD4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ABCD4_HUMAN helixturnhelix swissprot:ABCD4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ABCD4_HUMAN hmoment swissprot:ABCD4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ABCD4_HUMAN iep swissprot:ABCD4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ABCD4_HUMAN inforesidue swissprot:ABCD4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ABCD4_HUMAN neXtProt NX_O14678 http://www.nextprot.org/db/entry/NX_O14678 octanol swissprot:ABCD4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ABCD4_HUMAN pepcoil swissprot:ABCD4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ABCD4_HUMAN pepdigest swissprot:ABCD4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ABCD4_HUMAN pepinfo swissprot:ABCD4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ABCD4_HUMAN pepnet swissprot:ABCD4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ABCD4_HUMAN pepstats swissprot:ABCD4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ABCD4_HUMAN pepwheel swissprot:ABCD4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ABCD4_HUMAN pepwindow swissprot:ABCD4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ABCD4_HUMAN sigcleave swissprot:ABCD4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ABCD4_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS GTR2_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P11168-1; Sequence=Displayed; Name=2; IsoId=P11168-2; Sequence=VSP_054835; # AltName GTR2_HUMAN Glucose transporter type 2, liver # BioGrid 112405 4 # CCDS CCDS3215 -. [P11168-1] # CDD cd06174 MFS # DISEASE GTR2_HUMAN Fanconi-Bickel syndrome (FBS) [MIM 227810] Rare, well- defined clinical entity, inherited in an autosomal recessive mode and characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose. {ECO 0000269|PubMed 10987651, ECO 0000269|PubMed 11044475}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DrugBank DB00428 Streptozocin # Ensembl ENST00000314251 ENSP00000323568; ENSG00000163581. [P11168-1] # ExpressionAtlas P11168 baseline and differential # FUNCTION GTR2_HUMAN Facilitative glucose transporter. This isoform likely mediates the bidirectional transfer of glucose across the plasma membrane of hepatocytes and is responsible for uptake of glucose by the beta cells; may comprise part of the glucose-sensing mechanism of the beta cell. May also participate with the Na(+)/glucose cotransporter in the transcellular transport of glucose in the small intestine and kidney. # GO_component GO:0005737 cytoplasm; IEA:Ensembl. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0005903 brush border; IEA:Ensembl. # GO_component GO:0005911 cell-cell junction; IEA:Ensembl. # GO_component GO:0016020 membrane; TAS:ProtInc. # GO_component GO:0016324 apical plasma membrane; IEA:Ensembl. # GO_function GO:0005355 glucose transmembrane transporter activity; EXP:Reactome. # GO_function GO:0015149 hexose transmembrane transporter activity; TAS:Reactome. # GO_function GO:0033300 dehydroascorbic acid transporter activity; IEA:Ensembl. # GO_function GO:0055056 D-glucose transmembrane transporter activity; TAS:Reactome. # GO_process GO:0005975 carbohydrate metabolic process; TAS:ProtInc. # GO_process GO:0008645 hexose transport; TAS:Reactome. # GO_process GO:0015758 glucose transport; TAS:Reactome. # GO_process GO:0050796 regulation of insulin secretion; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0005975 carbohydrate metabolic process # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # Genevisible P11168 HS # HGNC HGNC:11006 SLC2A2 # InterPro IPR002440 Glc_transpt_2 # InterPro IPR003663 Sugar/inositol_transpt # InterPro IPR005828 MFS_sugar_transport-like # InterPro IPR005829 Sugar_transporter_CS # InterPro IPR020846 MFS_dom # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02000 Transporters # KEGG_Brite ko02001 Solute carrier family # KEGG_Disease H00069 [Inherited metabolic disease] Glycogen synthase deficiency (GSD type 0) # KEGG_Pathway ko04930 Type II diabetes mellitus # KEGG_Pathway ko04950 Maturity onset diabetes of the young # KEGG_Pathway ko04973 Carbohydrate digestion and absorption # MIM 138160 gene # MIM 227810 phenotype # Organism GTR2_HUMAN Homo sapiens (Human) # Orphanet 2088 Glycogen storage disease due to GLUT2 deficiency # PIR A31318 A31318 # PRINTS PR00171 SUGRTRNSPORT # PRINTS PR01191 GLUCTRSPORT2 # PROSITE PS00216 SUGAR_TRANSPORT_1 # PROSITE PS00217 SUGAR_TRANSPORT_2 # PROSITE PS50850 MFS # PTM GTR2_HUMAN N-glycosylated; required for stability and retention at the cell surface of pancreatic beta cells. {ECO 0000250}. # Pfam PF00083 Sugar_tr # Proteomes UP000005640 Chromosome 3 # Reactome R-HSA-189200 Hexose transport # Reactome R-HSA-210745 Regulation of gene expression in beta cells # Reactome R-HSA-422356 Regulation of insulin secretion # Reactome R-HSA-428790 Facilitative Na+-independent glucose transporters # Reactome R-HSA-70153 Glucose transport # RecName GTR2_HUMAN Solute carrier family 2, facilitated glucose transporter member 2 # RefSeq NP_000331 NM_000340.1. [P11168-1] # RefSeq NP_001265587 NM_001278658.1. [P11168-2] # RefSeq NP_001265588 NM_001278659.1 # SIMILARITY Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION GTR2_HUMAN Membrane; Multi-pass membrane protein. # SUPFAM SSF103473 SSF103473; 3 # TCDB 2.A.1.1.29 the major facilitator superfamily (mfs) # TIGRFAMs TIGR00879 SP # TISSUE SPECIFICITY GTR2_HUMAN Liver, insulin-producing beta cell, small intestine and kidney. # UCSC uc003fhe human. [P11168-1] # WEB RESOURCE GTR2_HUMAN Name=Wikipedia; Note=GLUT2 entry; URL="https //en.wikipedia.org/wiki/GLUT2"; # eggNOG COG0477 LUCA # eggNOG KOG0569 Eukaryota BLAST swissprot:GTR2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:GTR2_HUMAN BioCyc ZFISH:ENSG00000163581-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000163581-MONOMER COXPRESdb 6514 http://coxpresdb.jp/data/gene/6514.shtml CleanEx HS_SLC2A2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC2A2 DOI 10.1007/BF00408481 http://dx.doi.org/10.1007/BF00408481 DOI 10.1007/s004390051095 http://dx.doi.org/10.1007/s004390051095 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1038/nature04728 http://dx.doi.org/10.1038/nature04728 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.85.15.5434 http://dx.doi.org/10.1073/pnas.85.15.5434 DOI 10.1203/00006450-200011000-00005 http://dx.doi.org/10.1203/00006450-200011000-00005 DOI 10.1210/jc.80.11.3131 http://dx.doi.org/10.1210/jc.80.11.3131 DrugBank DB00428 http://www.drugbank.ca/drugs/DB00428 EMBL AC061708 http://www.ebi.ac.uk/ena/data/view/AC061708 EMBL AC092918 http://www.ebi.ac.uk/ena/data/view/AC092918 EMBL AK290846 http://www.ebi.ac.uk/ena/data/view/AK290846 EMBL AK298418 http://www.ebi.ac.uk/ena/data/view/AK298418 EMBL AK313622 http://www.ebi.ac.uk/ena/data/view/AK313622 EMBL CH471052 http://www.ebi.ac.uk/ena/data/view/CH471052 EMBL J03810 http://www.ebi.ac.uk/ena/data/view/J03810 Ensembl ENST00000314251 http://www.ensembl.org/id/ENST00000314251 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0005903 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005903 GO_component GO:0005911 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005911 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_function GO:0005355 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005355 GO_function GO:0015149 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015149 GO_function GO:0033300 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033300 GO_function GO:0055056 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055056 GO_process GO:0005975 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005975 GO_process GO:0008645 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008645 GO_process GO:0015758 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015758 GO_process GO:0050796 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050796 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0005975 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005975 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GeneCards SLC2A2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC2A2 GeneID 6514 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6514 GeneTree ENSGT00760000119022 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119022 HGNC HGNC:11006 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11006 HOGENOM HOG000202871 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000202871&db=HOGENOM6 HOVERGEN HBG014816 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG014816&db=HOVERGEN HPA CAB010444 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB010444 HPA HPA028997 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA028997 InParanoid P11168 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P11168 InterPro IPR002440 http://www.ebi.ac.uk/interpro/entry/IPR002440 InterPro IPR003663 http://www.ebi.ac.uk/interpro/entry/IPR003663 InterPro IPR005828 http://www.ebi.ac.uk/interpro/entry/IPR005828 InterPro IPR005829 http://www.ebi.ac.uk/interpro/entry/IPR005829 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 6514 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6514 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Disease H00069 http://www.genome.jp/dbget-bin/www_bget?H00069 KEGG_Gene hsa:6514 http://www.genome.jp/dbget-bin/www_bget?hsa:6514 KEGG_Orthology KO:K07593 http://www.genome.jp/dbget-bin/www_bget?KO:K07593 KEGG_Pathway ko04930 http://www.genome.jp/kegg-bin/show_pathway?ko04930 KEGG_Pathway ko04950 http://www.genome.jp/kegg-bin/show_pathway?ko04950 KEGG_Pathway ko04973 http://www.genome.jp/kegg-bin/show_pathway?ko04973 MIM 138160 http://www.ncbi.nlm.nih.gov/omim/138160 MIM 227810 http://www.ncbi.nlm.nih.gov/omim/227810 OMA YDLWHIL http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=YDLWHIL Orphanet 2088 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=2088 OrthoDB EOG091G0A9K http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0A9K PRINTS PR00171 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00171 PRINTS PR01191 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01191 PROSITE PS00216 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00216 PROSITE PS00217 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00217 PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PSORT swissprot:GTR2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:GTR2_HUMAN PSORT-B swissprot:GTR2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:GTR2_HUMAN PSORT2 swissprot:GTR2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:GTR2_HUMAN Pfam PF00083 http://pfam.xfam.org/family/PF00083 PharmGKB PA35876 http://www.pharmgkb.org/do/serve?objId=PA35876&objCls=Gene Phobius swissprot:GTR2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:GTR2_HUMAN PhylomeDB P11168 http://phylomedb.org/?seqid=P11168 ProteinModelPortal P11168 http://www.proteinmodelportal.org/query/uniprot/P11168 PubMed 10987651 http://www.ncbi.nlm.nih.gov/pubmed/10987651 PubMed 11044475 http://www.ncbi.nlm.nih.gov/pubmed/11044475 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 16641997 http://www.ncbi.nlm.nih.gov/pubmed/16641997 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 3399500 http://www.ncbi.nlm.nih.gov/pubmed/3399500 PubMed 7593414 http://www.ncbi.nlm.nih.gov/pubmed/7593414 PubMed 8027028 http://www.ncbi.nlm.nih.gov/pubmed/8027028 PubMed 8063045 http://www.ncbi.nlm.nih.gov/pubmed/8063045 Reactome R-HSA-189200 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-189200 Reactome R-HSA-210745 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-210745 Reactome R-HSA-422356 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-422356 Reactome R-HSA-428790 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-428790 Reactome R-HSA-70153 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-70153 RefSeq NP_000331 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000331 RefSeq NP_001265587 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001265587 RefSeq NP_001265588 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001265588 STRING 9606.ENSP00000323568 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000323568&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.1.1.29 http://www.tcdb.org/search/result.php?tc=2.A.1.1.29 TIGRFAMs TIGR00879 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00879 UCSC uc003fhe http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003fhe&org=rat UniGene Hs.167584 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.167584 UniProtKB GTR2_HUMAN http://www.uniprot.org/uniprot/GTR2_HUMAN UniProtKB-AC P11168 http://www.uniprot.org/uniprot/P11168 charge swissprot:GTR2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:GTR2_HUMAN eggNOG COG0477 http://eggnogapi.embl.de/nog_data/html/tree/COG0477 eggNOG KOG0569 http://eggnogapi.embl.de/nog_data/html/tree/KOG0569 epestfind swissprot:GTR2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:GTR2_HUMAN garnier swissprot:GTR2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:GTR2_HUMAN helixturnhelix swissprot:GTR2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:GTR2_HUMAN hmoment swissprot:GTR2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:GTR2_HUMAN iep swissprot:GTR2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:GTR2_HUMAN inforesidue swissprot:GTR2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:GTR2_HUMAN neXtProt NX_P11168 http://www.nextprot.org/db/entry/NX_P11168 octanol swissprot:GTR2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:GTR2_HUMAN pepcoil swissprot:GTR2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:GTR2_HUMAN pepdigest swissprot:GTR2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:GTR2_HUMAN pepinfo swissprot:GTR2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:GTR2_HUMAN pepnet swissprot:GTR2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:GTR2_HUMAN pepstats swissprot:GTR2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:GTR2_HUMAN pepwheel swissprot:GTR2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:GTR2_HUMAN pepwindow swissprot:GTR2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:GTR2_HUMAN sigcleave swissprot:GTR2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:GTR2_HUMAN ## Database ID URL or Descriptions # AltName MOT7_HUMAN Monocarboxylate transporter 6 # AltName MOT7_HUMAN Solute carrier family 16 member 6 # BioGrid 114568 6 # CDD cd06174 MFS # DrugBank DB00119 Pyruvic acid # Ensembl ENST00000327268 ENSP00000319991; ENSG00000108932 # Ensembl ENST00000580666 ENSP00000462985; ENSG00000108932 # ExpressionAtlas O15403 baseline and differential # FUNCTION MOT7_HUMAN Proton-linked monocarboxylate transporter. Catalyzes the rapid transport across the plasma membrane of many monocarboxylates such as lactate, pyruvate, branched-chain oxo acids derived from leucine, valine and isoleucine, and the ketone bodies acetoacetate, beta-hydroxybutyrate and acetate (By similarity). {ECO 0000250}. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0016020 membrane; TAS:ProtInc. # GO_function GO:0008028 monocarboxylic acid transmembrane transporter activity; TAS:ProtInc. # GO_function GO:0015129 lactate transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015293 symporter activity; IEA:UniProtKB-KW. # GO_process GO:0015718 monocarboxylic acid transport; TAS:ProtInc. # GO_process GO:0035879 plasma membrane lactate transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0055085 transmembrane transport # Genevisible O15403 HS # HGNC HGNC:10927 SLC16A6 # IntAct O15403 5 # InterPro IPR011701 MFS # InterPro IPR020846 MFS_dom # InterPro IPR030766 MCT7 # KEGG_Brite ko02000 Transporters # KEGG_Brite ko02001 Solute carrier family # MIM 603880 gene # Organism MOT7_HUMAN Homo sapiens (Human) # PANTHER PTHR11360:SF20 PTHR11360:SF20 # PROSITE PS50850 MFS # Pfam PF07690 MFS_1 # Proteomes UP000005640 Chromosome 17 # RecName MOT7_HUMAN Monocarboxylate transporter 7 # RefSeq NP_001167637 NM_001174166.1 # RefSeq NP_004685 NM_004694.4 # RefSeq XP_011523763 XM_011525461.2 # RefSeq XP_016880780 XM_017025291.1 # RefSeq XP_016880781 XM_017025292.1 # SEQUENCE CAUTION Sequence=AAC52014.1; Type=Frameshift; Positions=401, 416; Evidence={ECO 0000305}; # SIMILARITY Belongs to the major facilitator superfamily. Monocarboxylate porter (TC 2.A.1.13) family. {ECO 0000305}. # SUBCELLULAR LOCATION MOT7_HUMAN Cell membrane; Multi-pass membrane protein. # SUPFAM SSF103473 SSF103473; 2 # TCDB 2.A.1.13.15 the major facilitator superfamily (mfs) # UCSC uc002jgz human # eggNOG COG0477 LUCA # eggNOG KOG2504 Eukaryota BLAST swissprot:MOT7_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:MOT7_HUMAN BioCyc ZFISH:ENSG00000108932-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000108932-MONOMER COXPRESdb 9120 http://coxpresdb.jp/data/gene/9120.shtml CleanEx HS_SLC16A6 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC16A6 DOI 10.1016/j.cell.2006.09.026 http://dx.doi.org/10.1016/j.cell.2006.09.026 DOI 10.1016/j.molcel.2008.07.007 http://dx.doi.org/10.1016/j.molcel.2008.07.007 DOI 10.1042/bj3290321 http://dx.doi.org/10.1042/bj3290321 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DrugBank DB00119 http://www.drugbank.ca/drugs/DB00119 EMBL BC064832 http://www.ebi.ac.uk/ena/data/view/BC064832 EMBL CH471099 http://www.ebi.ac.uk/ena/data/view/CH471099 EMBL U79745 http://www.ebi.ac.uk/ena/data/view/U79745 Ensembl ENST00000327268 http://www.ensembl.org/id/ENST00000327268 Ensembl ENST00000580666 http://www.ensembl.org/id/ENST00000580666 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_function GO:0008028 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008028 GO_function GO:0015129 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015129 GO_function GO:0015293 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015293 GO_process GO:0015718 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015718 GO_process GO:0035879 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035879 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC16A6 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC16A6 GeneID 9120 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=9120 GeneTree ENSGT00760000118926 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118926 H-InvDB HIX0039198 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0039198 HGNC HGNC:10927 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10927 HOGENOM HOG000049166 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000049166&db=HOGENOM6 HOVERGEN HBG006386 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG006386&db=HOVERGEN HPA HPA054459 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA054459 InParanoid O15403 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O15403 IntAct O15403 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O15403* InterPro IPR011701 http://www.ebi.ac.uk/interpro/entry/IPR011701 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 InterPro IPR030766 http://www.ebi.ac.uk/interpro/entry/IPR030766 Jabion 9120 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=9120 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:9120 http://www.genome.jp/dbget-bin/www_bget?hsa:9120 KEGG_Orthology KO:K08183 http://www.genome.jp/dbget-bin/www_bget?KO:K08183 MIM 603880 http://www.ncbi.nlm.nih.gov/omim/603880 OMA AFAPAIM http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=AFAPAIM OrthoDB EOG091G04FE http://cegg.unige.ch/orthodb/results?searchtext=EOG091G04FE PANTHER PTHR11360:SF20 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11360:SF20 PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PSORT swissprot:MOT7_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:MOT7_HUMAN PSORT-B swissprot:MOT7_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:MOT7_HUMAN PSORT2 swissprot:MOT7_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:MOT7_HUMAN Pfam PF07690 http://pfam.xfam.org/family/PF07690 PharmGKB PA35818 http://www.pharmgkb.org/do/serve?objId=PA35818&objCls=Gene Phobius swissprot:MOT7_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:MOT7_HUMAN PhylomeDB O15403 http://phylomedb.org/?seqid=O15403 ProteinModelPortal O15403 http://www.proteinmodelportal.org/query/uniprot/O15403 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 17081983 http://www.ncbi.nlm.nih.gov/pubmed/17081983 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 18691976 http://www.ncbi.nlm.nih.gov/pubmed/18691976 PubMed 9425115 http://www.ncbi.nlm.nih.gov/pubmed/9425115 RefSeq NP_001167637 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001167637 RefSeq NP_004685 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004685 RefSeq XP_011523763 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011523763 RefSeq XP_016880780 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016880780 RefSeq XP_016880781 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016880781 STRING 9606.ENSP00000319991 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000319991&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.1.13.15 http://www.tcdb.org/search/result.php?tc=2.A.1.13.15 UCSC uc002jgz http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002jgz&org=rat UniGene Hs.42645 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.42645 UniProtKB MOT7_HUMAN http://www.uniprot.org/uniprot/MOT7_HUMAN UniProtKB-AC O15403 http://www.uniprot.org/uniprot/O15403 charge swissprot:MOT7_HUMAN http://rest.g-language.org/emboss/charge/swissprot:MOT7_HUMAN eggNOG COG0477 http://eggnogapi.embl.de/nog_data/html/tree/COG0477 eggNOG KOG2504 http://eggnogapi.embl.de/nog_data/html/tree/KOG2504 epestfind swissprot:MOT7_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:MOT7_HUMAN garnier swissprot:MOT7_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:MOT7_HUMAN helixturnhelix swissprot:MOT7_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:MOT7_HUMAN hmoment swissprot:MOT7_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:MOT7_HUMAN iep swissprot:MOT7_HUMAN http://rest.g-language.org/emboss/iep/swissprot:MOT7_HUMAN inforesidue swissprot:MOT7_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:MOT7_HUMAN neXtProt NX_O15403 http://www.nextprot.org/db/entry/NX_O15403 octanol swissprot:MOT7_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:MOT7_HUMAN pepcoil swissprot:MOT7_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:MOT7_HUMAN pepdigest swissprot:MOT7_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:MOT7_HUMAN pepinfo swissprot:MOT7_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:MOT7_HUMAN pepnet swissprot:MOT7_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:MOT7_HUMAN pepstats swissprot:MOT7_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:MOT7_HUMAN pepwheel swissprot:MOT7_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:MOT7_HUMAN pepwindow swissprot:MOT7_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:MOT7_HUMAN sigcleave swissprot:MOT7_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:MOT7_HUMAN ## Database ID URL or Descriptions # AltName ZNT9_HUMAN Human embryonic lung protein # AltName ZNT9_HUMAN Solute carrier family 30 member 9 # BioGrid 115726 12 # ChiTaRS SLC30A9 human # Ensembl ENST00000264451 ENSP00000264451; ENSG00000014824 # ExpressionAtlas Q6PML9 baseline and differential # FUNCTION ZNT9_HUMAN Plays a role in the p160 coactivator signaling pathway that mediates transcriptional activation by nuclear receptors. Plays a role in transcriptional activation of Wnt-responsive genes. {ECO 0000250, ECO 0000269|PubMed 10409434}. # GO_component GO:0005634 nucleus; IDA:UniProtKB. # GO_component GO:0005856 cytoskeleton; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0003682 chromatin binding; IEA:Ensembl. # GO_function GO:0003700 transcription factor activity, sequence-specific DNA binding; NAS:UniProtKB. # GO_function GO:0008324 cation transmembrane transporter activity; IEA:InterPro. # GO_function GO:0030374 ligand-dependent nuclear receptor transcription coactivator activity; IEA:Ensembl. # GO_process GO:0006289 nucleotide-excision repair; TAS:BHF-UCL. # GO_process GO:0006351 transcription, DNA-templated; IEA:UniProtKB-KW. # GO_process GO:0006829 zinc II ion transport; IEA:UniProtKB-KW. # GO_process GO:0045944 positive regulation of transcription from RNA polymerase II promoter; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005856 cytoskeleton # GOslim_function GO:0000988 transcription factor activity, protein binding # GOslim_function GO:0001071 nucleic acid binding transcription factor activity # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006259 DNA metabolic process # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0008150 biological_process # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # Gene3D 1.20.1510.10 -; 1. # Gene3D 3.90.530.10 -; 1. # Genevisible Q6PML9 HS # HGNC HGNC:1329 SLC30A9 # IntAct Q6PML9 5 # InterPro IPR002524 Cation_efflux # InterPro IPR009061 DNA-bd_dom_put # InterPro IPR022656 XPA_C # InterPro IPR027469 Cation_efflux_TMD # KEGG_Brite ko02001 Solute carrier family # MIM 604604 gene # Organism ZNT9_HUMAN Homo sapiens (Human) # PDB 2ENK NMR; -; A=124-217 # Pfam PF01545 Cation_efflux # Proteomes UP000005640 Chromosome 4 # RecName ZNT9_HUMAN Zinc transporter 9 # RefSeq NP_006336 NM_006345.3 # SEQUENCE CAUTION Sequence=AAP83846.1; Type=Miscellaneous discrepancy; Note=Unlikely isoform. Aberrant splice sites.; Evidence={ECO:0000305}; Sequence=AAY40966.1; Type=Erroneous gene model prediction; Evidence={ECO 0000305}; # SIMILARITY Belongs to the cation diffusion facilitator (CDF) transporter (TC 2.A.4) family. SLC30A subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION ZNT9_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. Nucleus {ECO 0000269|PubMed 10409434}. # SUBUNIT Interacts with GRIP1, ESR1 and AR. {ECO 0000250}. # SUPFAM SSF46955 SSF46955 # TCDB 2.A.4.6 the cation diffusion facilitator (cdf) family # TIGRFAMs TIGR01297 CDF # TISSUE SPECIFICITY Ubiquitously expressed in fetal and adult tissues and cancer cell lines. {ECO:0000269|PubMed 10409434}. # UCSC uc003gwl human # eggNOG COG0053 LUCA # eggNOG KOG2802 Eukaryota BLAST swissprot:ZNT9_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ZNT9_HUMAN COXPRESdb 10463 http://coxpresdb.jp/data/gene/10463.shtml CleanEx HS_SLC30A9 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC30A9 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1006/geno.1999.5856 http://dx.doi.org/10.1006/geno.1999.5856 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AC113151 http://www.ebi.ac.uk/ena/data/view/AC113151 EMBL AF006621 http://www.ebi.ac.uk/ena/data/view/AF006621 EMBL AY319413 http://www.ebi.ac.uk/ena/data/view/AY319413 EMBL AY594282 http://www.ebi.ac.uk/ena/data/view/AY594282 EMBL BC007732 http://www.ebi.ac.uk/ena/data/view/BC007732 EMBL BC016949 http://www.ebi.ac.uk/ena/data/view/BC016949 EMBL BC022981 http://www.ebi.ac.uk/ena/data/view/BC022981 Ensembl ENST00000264451 http://www.ensembl.org/id/ENST00000264451 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005856 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0003682 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003682 GO_function GO:0003700 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003700 GO_function GO:0008324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008324 GO_function GO:0030374 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030374 GO_process GO:0006289 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006289 GO_process GO:0006351 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006351 GO_process GO:0006829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006829 GO_process GO:0045944 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045944 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_component GO:0005856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005856 GOslim_function GO:0000988 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000988 GOslim_function GO:0001071 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001071 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006259 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006259 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 Gene3D 1.20.1510.10 http://www.cathdb.info/version/latest/superfamily/1.20.1510.10 Gene3D 3.90.530.10 http://www.cathdb.info/version/latest/superfamily/3.90.530.10 GeneCards SLC30A9 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC30A9 GeneID 10463 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=10463 GeneTree ENSGT00390000008346 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000008346 H-InvDB HIX0004181 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0004181 HGNC HGNC:1329 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:1329 HOGENOM HOG000242618 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000242618&db=HOGENOM6 HOVERGEN HBG104893 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG104893&db=HOVERGEN HPA HPA004014 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA004014 InParanoid Q6PML9 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q6PML9 IntAct Q6PML9 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q6PML9* InterPro IPR002524 http://www.ebi.ac.uk/interpro/entry/IPR002524 InterPro IPR009061 http://www.ebi.ac.uk/interpro/entry/IPR009061 InterPro IPR022656 http://www.ebi.ac.uk/interpro/entry/IPR022656 InterPro IPR027469 http://www.ebi.ac.uk/interpro/entry/IPR027469 Jabion 10463 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=10463 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:10463 http://www.genome.jp/dbget-bin/www_bget?hsa:10463 KEGG_Orthology KO:K14696 http://www.genome.jp/dbget-bin/www_bget?KO:K14696 MIM 604604 http://www.ncbi.nlm.nih.gov/omim/604604 OMA GSHSMFA http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=GSHSMFA OrthoDB EOG091G05KM http://cegg.unige.ch/orthodb/results?searchtext=EOG091G05KM PDB 2ENK http://www.ebi.ac.uk/pdbe-srv/view/entry/2ENK PDBsum 2ENK http://www.ebi.ac.uk/pdbsum/2ENK PSORT swissprot:ZNT9_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ZNT9_HUMAN PSORT-B swissprot:ZNT9_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ZNT9_HUMAN PSORT2 swissprot:ZNT9_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ZNT9_HUMAN Pfam PF01545 http://pfam.xfam.org/family/PF01545 PharmGKB PA25909 http://www.pharmgkb.org/do/serve?objId=PA25909&objCls=Gene Phobius swissprot:ZNT9_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ZNT9_HUMAN PhylomeDB Q6PML9 http://phylomedb.org/?seqid=Q6PML9 ProteinModelPortal Q6PML9 http://www.proteinmodelportal.org/query/uniprot/Q6PML9 PubMed 10409434 http://www.ncbi.nlm.nih.gov/pubmed/10409434 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 RefSeq NP_006336 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_006336 SMR Q6PML9 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q6PML9 STRING 9606.ENSP00000264451 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000264451&targetmode=cogs SUPFAM SSF46955 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF46955 TCDB 2.A.4.6 http://www.tcdb.org/search/result.php?tc=2.A.4.6 TIGRFAMs TIGR01297 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01297 UCSC uc003gwl http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003gwl&org=rat UniGene Hs.479634 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.479634 UniProtKB ZNT9_HUMAN http://www.uniprot.org/uniprot/ZNT9_HUMAN UniProtKB-AC Q6PML9 http://www.uniprot.org/uniprot/Q6PML9 charge swissprot:ZNT9_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ZNT9_HUMAN eggNOG COG0053 http://eggnogapi.embl.de/nog_data/html/tree/COG0053 eggNOG KOG2802 http://eggnogapi.embl.de/nog_data/html/tree/KOG2802 epestfind swissprot:ZNT9_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ZNT9_HUMAN garnier swissprot:ZNT9_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ZNT9_HUMAN helixturnhelix swissprot:ZNT9_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ZNT9_HUMAN hmoment swissprot:ZNT9_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ZNT9_HUMAN iep swissprot:ZNT9_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ZNT9_HUMAN inforesidue swissprot:ZNT9_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ZNT9_HUMAN neXtProt NX_Q6PML9 http://www.nextprot.org/db/entry/NX_Q6PML9 octanol swissprot:ZNT9_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ZNT9_HUMAN pepcoil swissprot:ZNT9_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ZNT9_HUMAN pepdigest swissprot:ZNT9_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ZNT9_HUMAN pepinfo swissprot:ZNT9_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ZNT9_HUMAN pepnet swissprot:ZNT9_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ZNT9_HUMAN pepstats swissprot:ZNT9_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ZNT9_HUMAN pepwheel swissprot:ZNT9_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ZNT9_HUMAN pepwindow swissprot:ZNT9_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ZNT9_HUMAN sigcleave swissprot:ZNT9_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ZNT9_HUMAN ## Database ID URL or Descriptions # AltName VA0E1_HUMAN V-ATPase 9.2 kDa membrane accessory protein # AltName VA0E1_HUMAN V-ATPase M9.2 subunit # AltName VA0E1_HUMAN Vacuolar proton pump subunit e 1 # BioGrid 114473 10 # ChiTaRS ATP6V0E1 human # Ensembl ENST00000517669 ENSP00000427941; ENSG00000113732 # Ensembl ENST00000519374 ENSP00000429690; ENSG00000113732 # ExpressionAtlas O15342 baseline and differential # FUNCTION VA0E1_HUMAN Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. # GO_component GO:0010008 endosome membrane; TAS:Reactome. # GO_component GO:0016020 membrane; TAS:ProtInc. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0030670 phagocytic vesicle membrane; TAS:Reactome. # GO_component GO:0033179 proton-transporting V-type ATPase, V0 domain; IEA:InterPro. # GO_function GO:0005215 transporter activity; NAS:ProtInc. # GO_function GO:0042625 ATPase coupled ion transmembrane transporter activity; ISS:UniProtKB. # GO_function GO:0046961 proton-transporting ATPase activity, rotational mechanism; TAS:ProtInc. # GO_process GO:0007035 vacuolar acidification; ISS:UniProtKB. # GO_process GO:0008286 insulin receptor signaling pathway; TAS:Reactome. # GO_process GO:0015991 ATP hydrolysis coupled proton transport; IEA:InterPro. # GO_process GO:0015992 proton transport; TAS:ProtInc. # GO_process GO:0016049 cell growth; IGI:UniProtKB. # GO_process GO:0016241 regulation of macroautophagy; NAS:ParkinsonsUK-UCL. # GO_process GO:0033572 transferrin transport; TAS:Reactome. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0090383 phagosome acidification; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0040007 growth # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Genevisible O15342 HS # HGNC HGNC:863 ATP6V0E1 # InterPro IPR008389 ATPase_V0-cplx_e1/e2_su # InterPro IPR017385 ATPase_V0-cplx_e1/e2_su_met # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Brite ko01000 Enzymes # KEGG_Pathway ko00190 Oxidative phosphorylation # KEGG_Pathway ko04145 Phagosome # KEGG_Pathway ko04721 Synaptic vesicle cycle # KEGG_Pathway ko04966 Collecting duct acid secretion # KEGG_Pathway ko05110 Vibrio cholerae infection # KEGG_Pathway ko05120 Epithelial cell signaling in Helicobacter pylori infection # KEGG_Pathway ko05323 Rheumatoid arthritis # MIM 603931 gene # Organism VA0E1_HUMAN Homo sapiens (Human) # PANTHER PTHR12263 PTHR12263 # PIRSF PIRSF038097 V-ATP_synth_e1/e2 # Pfam PF05493 ATP_synt_H # Proteomes UP000005640 Chromosome 5 # Reactome R-HSA-1222556 ROS, RNS production in response to bacteria # Reactome R-HSA-77387 Insulin receptor recycling # Reactome R-HSA-917977 Transferrin endocytosis and recycling # Reactome R-HSA-983712 Ion channel transport # RecName VA0E1_HUMAN V-type proton ATPase subunit e 1 # RefSeq NP_003936 NM_003945.3 # SEQUENCE CAUTION Sequence=CAA75571.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the V-ATPase e1/e2 subunit family. {ECO 0000305}. # SUBCELLULAR LOCATION VA0E1_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # SUBUNIT VA0E1_HUMAN Composed of at least 10 subunits. # TISSUE SPECIFICITY Ubiquitous. {ECO:0000269|PubMed 17350184}. # UCSC uc003mcd human # eggNOG ENOG41121M0 LUCA # eggNOG KOG3500 Eukaryota BLAST swissprot:VA0E1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:VA0E1_HUMAN BioCyc MetaCyc:HS03712-MONOMER http://biocyc.org/getid?id=MetaCyc:HS03712-MONOMER BioCyc ZFISH:HS03712-MONOMER http://biocyc.org/getid?id=ZFISH:HS03712-MONOMER COXPRESdb 8992 http://coxpresdb.jp/data/gene/8992.shtml CleanEx HS_ATP6V0E1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ATP6V0E1 DOI 10.1016/j.gene.2007.01.020 http://dx.doi.org/10.1016/j.gene.2007.01.020 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.273.18.10939 http://dx.doi.org/10.1074/jbc.273.18.10939 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AK312068 http://www.ebi.ac.uk/ena/data/view/AK312068 EMBL BC119714 http://www.ebi.ac.uk/ena/data/view/BC119714 EMBL BC119715 http://www.ebi.ac.uk/ena/data/view/BC119715 EMBL CH471062 http://www.ebi.ac.uk/ena/data/view/CH471062 EMBL CH471062 http://www.ebi.ac.uk/ena/data/view/CH471062 EMBL CR456856 http://www.ebi.ac.uk/ena/data/view/CR456856 EMBL CR542131 http://www.ebi.ac.uk/ena/data/view/CR542131 EMBL Y15286 http://www.ebi.ac.uk/ena/data/view/Y15286 Ensembl ENST00000517669 http://www.ensembl.org/id/ENST00000517669 Ensembl ENST00000519374 http://www.ensembl.org/id/ENST00000519374 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0010008 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010008 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0030670 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030670 GO_component GO:0033179 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033179 GO_function GO:0005215 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005215 GO_function GO:0042625 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042625 GO_function GO:0046961 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046961 GO_process GO:0007035 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007035 GO_process GO:0008286 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008286 GO_process GO:0015991 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015991 GO_process GO:0015992 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015992 GO_process GO:0016049 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016049 GO_process GO:0016241 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016241 GO_process GO:0033572 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033572 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0090383 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090383 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0040007 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0040007 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards ATP6V0E1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ATP6V0E1 GeneID 8992 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=8992 GeneTree ENSGT00390000000728 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000000728 HGNC HGNC:863 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:863 HOGENOM HOG000265078 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000265078&db=HOGENOM6 HOVERGEN HBG003974 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG003974&db=HOVERGEN InParanoid O15342 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O15342 InterPro IPR008389 http://www.ebi.ac.uk/interpro/entry/IPR008389 InterPro IPR017385 http://www.ebi.ac.uk/interpro/entry/IPR017385 Jabion 8992 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=8992 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00002 http://www.genome.jp/dbget-bin/www_bget?ko00002 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Gene hsa:8992 http://www.genome.jp/dbget-bin/www_bget?hsa:8992 KEGG_Orthology KO:K02153 http://www.genome.jp/dbget-bin/www_bget?KO:K02153 KEGG_Pathway ko00190 http://www.genome.jp/kegg-bin/show_pathway?ko00190 KEGG_Pathway ko04145 http://www.genome.jp/kegg-bin/show_pathway?ko04145 KEGG_Pathway ko04721 http://www.genome.jp/kegg-bin/show_pathway?ko04721 KEGG_Pathway ko04966 http://www.genome.jp/kegg-bin/show_pathway?ko04966 KEGG_Pathway ko05110 http://www.genome.jp/kegg-bin/show_pathway?ko05110 KEGG_Pathway ko05120 http://www.genome.jp/kegg-bin/show_pathway?ko05120 KEGG_Pathway ko05323 http://www.genome.jp/kegg-bin/show_pathway?ko05323 MIM 603931 http://www.ncbi.nlm.nih.gov/omim/603931 OMA GVVPWFI http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=GVVPWFI OrthoDB EOG091G113P http://cegg.unige.ch/orthodb/results?searchtext=EOG091G113P PANTHER PTHR12263 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12263 PSORT swissprot:VA0E1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:VA0E1_HUMAN PSORT-B swissprot:VA0E1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:VA0E1_HUMAN PSORT2 swissprot:VA0E1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:VA0E1_HUMAN Pfam PF05493 http://pfam.xfam.org/family/PF05493 PharmGKB PA25151 http://www.pharmgkb.org/do/serve?objId=PA25151&objCls=Gene Phobius swissprot:VA0E1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:VA0E1_HUMAN PhylomeDB O15342 http://phylomedb.org/?seqid=O15342 ProteinModelPortal O15342 http://www.proteinmodelportal.org/query/uniprot/O15342 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 17350184 http://www.ncbi.nlm.nih.gov/pubmed/17350184 PubMed 9556572 http://www.ncbi.nlm.nih.gov/pubmed/9556572 Reactome R-HSA-1222556 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1222556 Reactome R-HSA-77387 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-77387 Reactome R-HSA-917977 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-917977 Reactome R-HSA-983712 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-983712 RefSeq NP_003936 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_003936 STRING 9606.ENSP00000427941 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000427941&targetmode=cogs UCSC uc003mcd http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003mcd&org=rat UniGene Hs.484188 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.484188 UniProtKB VA0E1_HUMAN http://www.uniprot.org/uniprot/VA0E1_HUMAN UniProtKB-AC O15342 http://www.uniprot.org/uniprot/O15342 charge swissprot:VA0E1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:VA0E1_HUMAN eggNOG ENOG41121M0 http://eggnogapi.embl.de/nog_data/html/tree/ENOG41121M0 eggNOG KOG3500 http://eggnogapi.embl.de/nog_data/html/tree/KOG3500 epestfind swissprot:VA0E1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:VA0E1_HUMAN garnier swissprot:VA0E1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:VA0E1_HUMAN helixturnhelix swissprot:VA0E1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:VA0E1_HUMAN hmoment swissprot:VA0E1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:VA0E1_HUMAN iep swissprot:VA0E1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:VA0E1_HUMAN inforesidue swissprot:VA0E1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:VA0E1_HUMAN neXtProt NX_O15342 http://www.nextprot.org/db/entry/NX_O15342 octanol swissprot:VA0E1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:VA0E1_HUMAN pepcoil swissprot:VA0E1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:VA0E1_HUMAN pepdigest swissprot:VA0E1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:VA0E1_HUMAN pepinfo swissprot:VA0E1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:VA0E1_HUMAN pepnet swissprot:VA0E1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:VA0E1_HUMAN pepstats swissprot:VA0E1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:VA0E1_HUMAN pepwheel swissprot:VA0E1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:VA0E1_HUMAN pepwindow swissprot:VA0E1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:VA0E1_HUMAN sigcleave swissprot:VA0E1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:VA0E1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS Event=Alternative splicing; Named isoforms=5; Name=2; Synonyms=Non-IRE, DMT1B; IsoId=P49281-1; Sequence=Displayed; Name=1; Synonyms=IRE; IsoId=P49281-2; Sequence=VSP_003595; Name=3; Synonyms=1A-IRE; IsoId=P49281-3; Sequence=VSP_038144, VSP_003595; Name=4; Synonyms=1A-Non-IRE; IsoId=P49281-4; Sequence=VSP_038144; Note=No experimental confirmation available.; Name=5; IsoId=P49281-5; Sequence=VSP_046058, VSP_003595; Note=No experimental confirmation available. Ref.6 (BAG59096/BAH14878) sequences are in conflict in position: 6 Y->S. {ECO:0000305}; # AltName NRAM2_HUMAN Divalent cation transporter 1 # AltName NRAM2_HUMAN Divalent metal transporter 1 # AltName NRAM2_HUMAN Solute carrier family 11 member 2 # BIOPHYSICOCHEMICAL PROPERTIES pH dependence: Optimum pH is 5.5-6.5 for Fe(2+) uptake. {ECO 0000269|PubMed:17293870}; # BioGrid 110950 7 # CCDS CCDS53791 -. [P49281-5] # CCDS CCDS53792 -. [P49281-1] # CCDS CCDS53793 -. [P49281-3] # CCDS CCDS8805 -. [P49281-2] # ChiTaRS SLC11A2 human # DISEASE NRAM2_HUMAN Anemia, hypochromic microcytic, with iron overload 1 (AHMIO1) [MIM 206100] A hematologic disease characterized by abnormal hemoglobin content in the erythrocytes which are reduced in size. The disorder is due to an error of iron metabolism that results in high serum iron, massive hepatic iron deposition, and absence of sideroblasts and stainable bone marrow iron store. Despite adequate transferrin-iron complex, delivery of iron to the erythroid bone marrow is apparently insufficient for the demands of hemoglobin synthesis. {ECO 0000269|PubMed 15459009, ECO 0000269|PubMed 16160008, ECO 0000269|PubMed 16439678}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000262051 ENSP00000262051; ENSG00000110911. [P49281-1] # Ensembl ENST00000262052 ENSP00000262052; ENSG00000110911. [P49281-2] # Ensembl ENST00000394904 ENSP00000378364; ENSG00000110911. [P49281-3] # Ensembl ENST00000541174 ENSP00000444542; ENSG00000110911. [P49281-2] # Ensembl ENST00000545993 ENSP00000442810; ENSG00000110911. [P49281-5] # Ensembl ENST00000546636 ENSP00000449008; ENSG00000110911. [P49281-1] # Ensembl ENST00000547198 ENSP00000446769; ENSG00000110911. [P49281-1] # Ensembl ENST00000547688 ENSP00000449200; ENSG00000110911. [P49281-3] # ExpressionAtlas P49281 baseline and differential # FUNCTION NRAM2_HUMAN Important in metal transport, in particular iron. Can also transport manganese, cobalt, cadmium, nickel, vanadium and lead. Involved in apical iron uptake into duodenal enterocytes. Involved in iron transport from acidified endosomes into the cytoplasm of erythroid precursor cells. May play an important role in hepatic iron accumulation and tissue iron distribution. May serve to import iron into the mitochondria. {ECO 0000269|PubMed 17109629, ECO 0000269|PubMed 24448823, ECO 0000269|PubMed 25326704, ECO 0000269|PubMed 25491917}. # GO_component GO:0005634 nucleus; IDA:UniProtKB. # GO_component GO:0005737 cytoplasm; IDA:BHF-UCL. # GO_component GO:0005741 mitochondrial outer membrane; IEA:UniProtKB-SubCell. # GO_component GO:0005764 lysosome; IDA:UniProtKB. # GO_component GO:0005765 lysosomal membrane; IDA:UniProtKB. # GO_component GO:0005769 early endosome; IDA:UniProtKB. # GO_component GO:0005770 late endosome; IDA:UniProtKB. # GO_component GO:0005773 vacuole; IMP:BHF-UCL. # GO_component GO:0005802 trans-Golgi network; IDA:UniProtKB. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0005887 integral component of plasma membrane; IDA:UniProtKB. # GO_component GO:0009986 cell surface; IDA:UniProtKB. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0016324 apical plasma membrane; IDA:UniProtKB. # GO_component GO:0031410 cytoplasmic vesicle; IDA:UniProtKB. # GO_component GO:0031526 brush border membrane; ISS:BHF-UCL. # GO_component GO:0031902 late endosome membrane; IDA:BHF-UCL. # GO_component GO:0045177 apical part of cell; IDA:UniProtKB. # GO_component GO:0045178 basal part of cell; IDA:UniProtKB. # GO_component GO:0048471 perinuclear region of cytoplasm; IDA:BHF-UCL. # GO_component GO:0055037 recycling endosome; IDA:UniProtKB. # GO_component GO:0070826 paraferritin complex; IDA:UniProtKB. # GO_function GO:0005375 copper ion transmembrane transporter activity; IDA:BHF-UCL. # GO_function GO:0005381 iron ion transmembrane transporter activity; TAS:Reactome. # GO_function GO:0005384 manganese ion transmembrane transporter activity; IDA:BHF-UCL. # GO_function GO:0005385 zinc ion transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0015078 hydrogen ion transmembrane transporter activity; IEA:Ensembl. # GO_function GO:0015086 cadmium ion transmembrane transporter activity; IDA:BHF-UCL. # GO_function GO:0015087 cobalt ion transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0015093 ferrous iron transmembrane transporter activity; IDA:BHF-UCL. # GO_function GO:0015094 lead ion transmembrane transporter activity; IDA:BHF-UCL. # GO_function GO:0015099 nickel cation transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0015100 vanadium ion transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0015639 ferrous iron uptake transmembrane transporter activity; IMP:UniProtKB. # GO_function GO:0022890 inorganic cation transmembrane transporter activity; IGI:UniProtKB. # GO_function GO:0046870 cadmium ion binding; IDA:UniProtKB. # GO_function GO:0046915 transition metal ion transmembrane transporter activity; IDA:UniProtKB. # GO_function NRAM2_HUMAN GO 0015295 solute proton symporter activity; IDA UniProtKB. # GO_process GO:0001666 response to hypoxia; IEP:UniProtKB. # GO_process GO:0003032 detection of oxygen; IEP:UniProtKB. # GO_process GO:0006783 heme biosynthetic process; IEA:Ensembl. # GO_process GO:0006824 cobalt ion transport; IDA:UniProtKB. # GO_process GO:0006825 copper ion transport; IDA:BHF-UCL. # GO_process GO:0006828 manganese ion transport; IDA:BHF-UCL. # GO_process GO:0006879 cellular iron ion homeostasis; TAS:Reactome. # GO_process GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process; IDA:UniProtKB. # GO_process GO:0007611 learning or memory; IEA:Ensembl. # GO_process GO:0010039 response to iron ion; IEP:UniProtKB. # GO_process GO:0015675 nickel cation transport; IDA:UniProtKB. # GO_process GO:0015676 vanadium ion transport; IDA:UniProtKB. # GO_process GO:0015684 ferrous iron transport; IDA:BHF-UCL. # GO_process GO:0015692 lead ion transport; IDA:BHF-UCL. # GO_process GO:0034599 cellular response to oxidative stress; IDA:UniProtKB. # GO_process GO:0048813 dendrite morphogenesis; IEA:Ensembl. # GO_process GO:0048821 erythrocyte development; IEA:Ensembl. # GO_process GO:0060586 multicellular organismal iron ion homeostasis; IMP:BHF-UCL. # GO_process GO:0070574 cadmium ion transmembrane transport; IDA:UniProtKB. # GO_process GO:0070627 ferrous iron import; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005764 lysosome # GOslim_component GO:0005768 endosome # GOslim_component GO:0005773 vacuole # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0031410 cytoplasmic vesicle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0008150 biological_process # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0050877 neurological system process # GOslim_process GO:0051186 cofactor metabolic process # GOslim_process GO:0055085 transmembrane transport # Genevisible P49281 HS # HAMAP MF_00221 NRAMP # HGNC HGNC:10908 SLC11A2 # INTERACTION NRAM2_HUMAN P00403 MT-CO2; NbExp=2; IntAct=EBI-10828817, EBI-2105756; # IntAct P49281 4 # InterPro IPR001046 NRAMP_fam # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02001 Solute carrier family # KEGG_Disease H01196 [Hematologic disease] Hypochromic microcytic anemia # KEGG_Pathway ko04142 Lysosome # KEGG_Pathway ko04978 Mineral absorption # MIM 206100 phenotype # MIM 600523 gene # MISCELLANEOUS NRAM2_HUMAN NRAMP2-mediated iron uptake is markedly stimulated by nifedipine in a concentration-dependent manner. # Organism NRAM2_HUMAN Homo sapiens (Human) # Orphanet 83642 Microcytic anemia with liver iron overload # PIR I57022 I57022 # PRINTS PR00447 NATRESASSCMP # PTM NRAM2_HUMAN N-glycosylated. {ECO 0000269|PubMed 25491917}. # PTM NRAM2_HUMAN Ubiquitinated by WWP2. {ECO 0000250}. # Pfam PF01566 Nramp # Proteomes UP000005640 Chromosome 12 # Reactome R-HSA-425410 Metal ion SLC transporters # Reactome R-HSA-917937 Iron uptake and transport # RecName NRAM2_HUMAN Natural resistance-associated macrophage protein 2 # RefSeq NP_000608 NM_000617.2. [P49281-2] # RefSeq NP_001167596 NM_001174125.1. [P49281-3] # RefSeq NP_001167597 NM_001174126.1. [P49281-1] # RefSeq NP_001167598 NM_001174127.1. [P49281-1] # RefSeq NP_001167599 NM_001174128.1. [P49281-2] # RefSeq NP_001167600 NM_001174129.1. [P49281-2] # RefSeq NP_001167601 NM_001174130.1. [P49281-5] # RefSeq XP_005268968 XM_005268911.3. [P49281-4] # RefSeq XP_011536706 XM_011538404.2. [P49281-1] # RefSeq XP_011536707 XM_011538405.2. [P49281-1] # RefSeq XP_016874844 XM_017019355.1. [P49281-1] # SEQUENCE CAUTION Sequence=AAH02592.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA34374.1; Type=Erroneous gene model prediction; Evidence={ECO 0000305}; # SIMILARITY Belongs to the NRAMP family. {ECO 0000305}. # SUBCELLULAR LOCATION NRAM2_HUMAN Endosome membrane {ECO 0000269|PubMed 12475959, ECO 0000269|PubMed 18776082, ECO 0000269|PubMed 25491917}; Multi-pass membrane protein {ECO 0000269|PubMed 18776082}. Mitochondrion outer membrane {ECO 0000269|PubMed 24448823}; Multi-pass membrane protein. Cell membrane {ECO 0000269|PubMed 12475959, ECO 0000269|PubMed 25326704, ECO 0000269|PubMed 25491917}; Multi- pass membrane protein {ECO 0000305}. # SUBCELLULAR LOCATION NRAM2_HUMAN Isoform 2 Cell membrane {ECO 0000269|PubMed 12475959, ECO 0000269|PubMed 25491917}; Multi- pass membrane protein {ECO 0000305}. Early endosome {ECO 0000269|PubMed 12475959}. # SUBUNIT NRAM2_HUMAN Forms a complex with NDFIP1 and NEDD4L, in cortical neurons, in response to iron and colbalt exposure; this interaction leads to ubiquitination by NEDD4L and proteasome- dependent degradation. Interacts with NDFIP2. Interacts with COX2 and TOM6 at the outer mitochondrion membrane. {ECO 0000269|PubMed 18776082, ECO 0000269|PubMed 19706893, ECO 0000269|PubMed 24448823}. # TCDB 2.A.55.2 the metal ion (mn(2+)-iron) transporter (nramp) family # TIGRFAMs TIGR01197 nramp # TISSUE SPECIFICITY NRAM2_HUMAN Ubiquitously expressed. Isoform 1 is highly expressed in brain. Isoform 2 is highly expressed in spleen, thymus and pancreas. Isoform 3 and isoform 4 are abundantly expressed in duodenum and kidney. {ECO 0000269|PubMed 12209011, ECO 0000269|PubMed 9642100}. # UCSC uc001rxc human. [P49281-1] # eggNOG COG1914 LUCA # eggNOG KOG1291 Eukaryota BLAST swissprot:NRAM2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:NRAM2_HUMAN BioCyc ZFISH:ENSG00000110911-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000110911-MONOMER COXPRESdb 4891 http://coxpresdb.jp/data/gene/4891.shtml CleanEx HS_SLC11A2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC11A2 DIP DIP-48957N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-48957N DOI 10.1002/cbin.10403 http://dx.doi.org/10.1002/cbin.10403 DOI 10.1006/bbrc.1998.9415 http://dx.doi.org/10.1006/bbrc.1998.9415 DOI 10.1006/bcmd.1998.0186 http://dx.doi.org/10.1006/bcmd.1998.0186 DOI 10.1007/BF00352405 http://dx.doi.org/10.1007/BF00352405 DOI 10.1016/S0161-5890(97)00110-7 http://dx.doi.org/10.1016/S0161-5890(97)00110-7 DOI 10.1038/nature04569 http://dx.doi.org/10.1038/nature04569 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1038/nm1542 http://dx.doi.org/10.1038/nm1542 DOI 10.1038/nsmb.2904 http://dx.doi.org/10.1038/nsmb.2904 DOI 10.1042/BJ20061290 http://dx.doi.org/10.1042/BJ20061290 DOI 10.1073/pnas.0904880106 http://dx.doi.org/10.1073/pnas.0904880106 DOI 10.1073/pnas.192423399 http://dx.doi.org/10.1073/pnas.192423399 DOI 10.1091/mbc.E02-03-0165 http://dx.doi.org/10.1091/mbc.E02-03-0165 DOI 10.1096/fj.13-240564 http://dx.doi.org/10.1096/fj.13-240564 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1133427 http://dx.doi.org/10.1126/science.1133427 DOI 10.1182/blood-2004-07-2966 http://dx.doi.org/10.1182/blood-2004-07-2966 DOI 10.1182/blood-2005-06-2477 http://dx.doi.org/10.1182/blood-2005-06-2477 DOI 10.1182/blood-2005-10-4269 http://dx.doi.org/10.1182/blood-2005-10-4269 DOI 10.1182/blood-2008-04-150953 http://dx.doi.org/10.1182/blood-2008-04-150953 EMBL AB004857 http://www.ebi.ac.uk/ena/data/view/AB004857 EMBL AB015355 http://www.ebi.ac.uk/ena/data/view/AB015355 EMBL AB062284 http://www.ebi.ac.uk/ena/data/view/AB062284 EMBL AC087884 http://www.ebi.ac.uk/ena/data/view/AC087884 EMBL AF046997 http://www.ebi.ac.uk/ena/data/view/AF046997 EMBL AF064476 http://www.ebi.ac.uk/ena/data/view/AF064476 EMBL AF064476 http://www.ebi.ac.uk/ena/data/view/AF064476 EMBL AF064477 http://www.ebi.ac.uk/ena/data/view/AF064477 EMBL AF064477 http://www.ebi.ac.uk/ena/data/view/AF064477 EMBL AF064478 http://www.ebi.ac.uk/ena/data/view/AF064478 EMBL AF064478 http://www.ebi.ac.uk/ena/data/view/AF064478 EMBL AF064479 http://www.ebi.ac.uk/ena/data/view/AF064479 EMBL AF064479 http://www.ebi.ac.uk/ena/data/view/AF064479 EMBL AF064480 http://www.ebi.ac.uk/ena/data/view/AF064480 EMBL AF064480 http://www.ebi.ac.uk/ena/data/view/AF064480 EMBL AF064481 http://www.ebi.ac.uk/ena/data/view/AF064481 EMBL AF064481 http://www.ebi.ac.uk/ena/data/view/AF064481 EMBL AF064482 http://www.ebi.ac.uk/ena/data/view/AF064482 EMBL AF064482 http://www.ebi.ac.uk/ena/data/view/AF064482 EMBL AF064483 http://www.ebi.ac.uk/ena/data/view/AF064483 EMBL AF064484 http://www.ebi.ac.uk/ena/data/view/AF064484 EMBL AJ493662 http://www.ebi.ac.uk/ena/data/view/AJ493662 EMBL AK094735 http://www.ebi.ac.uk/ena/data/view/AK094735 EMBL AK296445 http://www.ebi.ac.uk/ena/data/view/AK296445 EMBL AK316507 http://www.ebi.ac.uk/ena/data/view/AK316507 EMBL BC002592 http://www.ebi.ac.uk/ena/data/view/BC002592 EMBL BC100014 http://www.ebi.ac.uk/ena/data/view/BC100014 EMBL CH471111 http://www.ebi.ac.uk/ena/data/view/CH471111 EMBL L37347 http://www.ebi.ac.uk/ena/data/view/L37347 Ensembl ENST00000262051 http://www.ensembl.org/id/ENST00000262051 Ensembl ENST00000262052 http://www.ensembl.org/id/ENST00000262052 Ensembl ENST00000394904 http://www.ensembl.org/id/ENST00000394904 Ensembl ENST00000541174 http://www.ensembl.org/id/ENST00000541174 Ensembl ENST00000545993 http://www.ensembl.org/id/ENST00000545993 Ensembl ENST00000546636 http://www.ensembl.org/id/ENST00000546636 Ensembl ENST00000547198 http://www.ensembl.org/id/ENST00000547198 Ensembl ENST00000547688 http://www.ensembl.org/id/ENST00000547688 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005741 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005741 GO_component GO:0005764 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005764 GO_component GO:0005765 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005765 GO_component GO:0005769 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005769 GO_component GO:0005770 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005770 GO_component GO:0005773 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005773 GO_component GO:0005802 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005802 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0009986 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009986 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:0031410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410 GO_component GO:0031526 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031526 GO_component GO:0031902 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031902 GO_component GO:0045177 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045177 GO_component GO:0045178 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045178 GO_component GO:0048471 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048471 GO_component GO:0055037 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055037 GO_component GO:0070826 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070826 GO_function GO:0005375 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005375 GO_function GO:0005381 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005381 GO_function GO:0005384 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005384 GO_function GO:0005385 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005385 GO_function GO:0015078 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015078 GO_function GO:0015086 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015086 GO_function GO:0015087 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015087 GO_function GO:0015093 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015093 GO_function GO:0015094 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015094 GO_function GO:0015099 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015099 GO_function GO:0015100 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015100 GO_function GO:0015295 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015295 GO_function GO:0015639 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015639 GO_function GO:0022890 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022890 GO_function GO:0046870 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046870 GO_function GO:0046915 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046915 GO_process GO:0001666 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001666 GO_process GO:0003032 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003032 GO_process GO:0006783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006783 GO_process GO:0006824 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006824 GO_process GO:0006825 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006825 GO_process GO:0006828 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006828 GO_process GO:0006879 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006879 GO_process GO:0006919 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006919 GO_process GO:0007611 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007611 GO_process GO:0010039 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010039 GO_process GO:0015675 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015675 GO_process GO:0015676 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015676 GO_process GO:0015684 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015684 GO_process GO:0015692 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015692 GO_process GO:0034599 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034599 GO_process GO:0048813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048813 GO_process GO:0048821 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048821 GO_process GO:0060586 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060586 GO_process GO:0070574 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070574 GO_process GO:0070627 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070627 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005764 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005764 GOslim_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GOslim_component GO:0005773 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005773 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0031410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GOslim_process GO:0051186 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051186 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC11A2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC11A2 GeneID 4891 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=4891 GeneTree ENSGT00390000006526 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000006526 HAMAP MF_00221 http://hamap.expasy.org/unirule/MF_00221 HGNC HGNC:10908 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10908 HOVERGEN HBG052665 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052665&db=HOVERGEN HPA HPA032139 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA032139 HPA HPA032140 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA032140 InParanoid P49281 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P49281 IntAct P49281 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P49281* InterPro IPR001046 http://www.ebi.ac.uk/interpro/entry/IPR001046 Jabion 4891 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=4891 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Disease H01196 http://www.genome.jp/dbget-bin/www_bget?H01196 KEGG_Gene hsa:4891 http://www.genome.jp/dbget-bin/www_bget?hsa:4891 KEGG_Orthology KO:K12347 http://www.genome.jp/dbget-bin/www_bget?KO:K12347 KEGG_Pathway ko04142 http://www.genome.jp/kegg-bin/show_pathway?ko04142 KEGG_Pathway ko04978 http://www.genome.jp/kegg-bin/show_pathway?ko04978 MIM 206100 http://www.ncbi.nlm.nih.gov/omim/206100 MIM 600523 http://www.ncbi.nlm.nih.gov/omim/600523 OMA ERYSATK http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=ERYSATK Orphanet 83642 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=83642 OrthoDB EOG091G05M9 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G05M9 PRINTS PR00447 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00447 PSORT swissprot:NRAM2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:NRAM2_HUMAN PSORT-B swissprot:NRAM2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:NRAM2_HUMAN PSORT2 swissprot:NRAM2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:NRAM2_HUMAN Pfam PF01566 http://pfam.xfam.org/family/PF01566 PharmGKB PA259 http://www.pharmgkb.org/do/serve?objId=PA259&objCls=Gene Phobius swissprot:NRAM2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:NRAM2_HUMAN PhylomeDB P49281 http://phylomedb.org/?seqid=P49281 ProteinModelPortal P49281 http://www.proteinmodelportal.org/query/uniprot/P49281 PubMed 12209011 http://www.ncbi.nlm.nih.gov/pubmed/12209011 PubMed 12475959 http://www.ncbi.nlm.nih.gov/pubmed/12475959 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15459009 http://www.ncbi.nlm.nih.gov/pubmed/15459009 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16160008 http://www.ncbi.nlm.nih.gov/pubmed/16160008 PubMed 16439678 http://www.ncbi.nlm.nih.gov/pubmed/16439678 PubMed 16541075 http://www.ncbi.nlm.nih.gov/pubmed/16541075 PubMed 16959974 http://www.ncbi.nlm.nih.gov/pubmed/16959974 PubMed 17109629 http://www.ncbi.nlm.nih.gov/pubmed/17109629 PubMed 17293870 http://www.ncbi.nlm.nih.gov/pubmed/17293870 PubMed 18776082 http://www.ncbi.nlm.nih.gov/pubmed/18776082 PubMed 19706893 http://www.ncbi.nlm.nih.gov/pubmed/19706893 PubMed 24448823 http://www.ncbi.nlm.nih.gov/pubmed/24448823 PubMed 25326704 http://www.ncbi.nlm.nih.gov/pubmed/25326704 PubMed 25491917 http://www.ncbi.nlm.nih.gov/pubmed/25491917 PubMed 7613023 http://www.ncbi.nlm.nih.gov/pubmed/7613023 PubMed 9464519 http://www.ncbi.nlm.nih.gov/pubmed/9464519 PubMed 9642100 http://www.ncbi.nlm.nih.gov/pubmed/9642100 PubMed 9790986 http://www.ncbi.nlm.nih.gov/pubmed/9790986 Reactome R-HSA-425410 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-425410 Reactome R-HSA-917937 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-917937 RefSeq NP_000608 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000608 RefSeq NP_001167596 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001167596 RefSeq NP_001167597 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001167597 RefSeq NP_001167598 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001167598 RefSeq NP_001167599 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001167599 RefSeq NP_001167600 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001167600 RefSeq NP_001167601 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001167601 RefSeq XP_005268968 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005268968 RefSeq XP_011536706 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011536706 RefSeq XP_011536707 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011536707 RefSeq XP_016874844 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016874844 STRING 9606.ENSP00000378364 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000378364&targetmode=cogs TCDB 2.A.55.2 http://www.tcdb.org/search/result.php?tc=2.A.55.2 TIGRFAMs TIGR01197 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01197 UCSC uc001rxc http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001rxc&org=rat UniGene Hs.505545 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.505545 UniProtKB NRAM2_HUMAN http://www.uniprot.org/uniprot/NRAM2_HUMAN UniProtKB-AC P49281 http://www.uniprot.org/uniprot/P49281 charge swissprot:NRAM2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:NRAM2_HUMAN eggNOG COG1914 http://eggnogapi.embl.de/nog_data/html/tree/COG1914 eggNOG KOG1291 http://eggnogapi.embl.de/nog_data/html/tree/KOG1291 epestfind swissprot:NRAM2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:NRAM2_HUMAN garnier swissprot:NRAM2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:NRAM2_HUMAN helixturnhelix swissprot:NRAM2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:NRAM2_HUMAN hmoment swissprot:NRAM2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:NRAM2_HUMAN iep swissprot:NRAM2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:NRAM2_HUMAN inforesidue swissprot:NRAM2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:NRAM2_HUMAN neXtProt NX_P49281 http://www.nextprot.org/db/entry/NX_P49281 octanol swissprot:NRAM2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:NRAM2_HUMAN pepcoil swissprot:NRAM2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:NRAM2_HUMAN pepdigest swissprot:NRAM2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:NRAM2_HUMAN pepinfo swissprot:NRAM2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:NRAM2_HUMAN pepnet swissprot:NRAM2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:NRAM2_HUMAN pepstats swissprot:NRAM2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:NRAM2_HUMAN pepwheel swissprot:NRAM2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:NRAM2_HUMAN pepwindow swissprot:NRAM2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:NRAM2_HUMAN sigcleave swissprot:NRAM2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:NRAM2_HUMAN ## Database ID URL or Descriptions # AltName ACH10_HUMAN Nicotinic acetylcholine receptor subunit alpha-10 # DrugBank DB00184 Nicotine # DrugBank DB00202 Succinylcholine # DrugBank DB00333 Methadone # DrugBank DB00674 Galantamine # DrugBank DB00898 Ethanol # DrugBank DB01090 Pentolinium # DrugBank DB01116 Trimethaphan # DrugBank DB01161 Chloroprocaine # Ensembl ENST00000250699 ENSP00000250699; ENSG00000129749 # ExpressionAtlas Q9GZZ6 baseline and differential # FUNCTION ACH10_HUMAN Ionotropic receptor with a probable role in the modulation of auditory stimuli. Agonist binding may induce an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. The channel is permeable to a range of divalent cations including calcium, the influx of which may activate a potassium current which hyperpolarizes the cell membrane. In the ear, this may lead to a reduction in basilar membrane motion, altering the activity of auditory nerve fibers and reducing the range of dynamic hearing. This may protect against acoustic trauma. {ECO 0000269|PubMed 11752216}. # GO_component GO:0005892 acetylcholine-gated channel complex; IBA:GO_Central. # GO_component GO:0016020 membrane; TAS:UniProtKB. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0030424 axon; IEA:Ensembl. # GO_component GO:0043204 perikaryon; IEA:Ensembl. # GO_component GO:0045211 postsynaptic membrane; IEA:UniProtKB-SubCell. # GO_function GO:0004889 acetylcholine-activated cation-selective channel activity; IEA:Ensembl. # GO_function GO:0005102 receptor binding; TAS:UniProtKB. # GO_function GO:0005262 calcium channel activity; IEA:UniProtKB-KW. # GO_function GO:0042166 acetylcholine binding; IBA:GO_Central. # GO_process GO:0007165 signal transduction; IEA:GOC. # GO_process GO:0007204 positive regulation of cytosolic calcium ion concentration; IGI:MGI. # GO_process GO:0007271 synaptic transmission, cholinergic; TAS:UniProtKB. # GO_process GO:0042127 regulation of cell proliferation; TAS:UniProtKB. # GO_process GO:0042472 inner ear morphogenesis; IEA:Ensembl. # GO_process GO:0050910 detection of mechanical stimulus involved in sensory perception of sound; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0050877 neurological system process # Gene3D 1.20.120.370 -; 2. # Gene3D 2.70.170.10 -; 1. # Genevisible Q9GZZ6 HS # HGNC HGNC:13800 CHRNA10 # InterPro IPR002394 Nicotinic_acetylcholine_rcpt # InterPro IPR006029 Neurotrans-gated_channel_TM # InterPro IPR006201 Neur_channel # InterPro IPR006202 Neur_chan_lig-bd # InterPro IPR018000 Neurotransmitter_ion_chnl_CS # InterPro IPR027361 Acetylcholine_rcpt_TM # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04080 Neuroactive ligand-receptor interaction # MIM 606372 gene # MISCELLANEOUS ACH10_HUMAN The heterooligomeric receptor composed of CHRNA9 and CHRNA10 has an atypical pharmacological profile, binding several non-nicotinic ligands including strychnine (a glycine receptor antagonist) and atropine (a muscarinic acetylcholine receptor antagonist). # Organism ACH10_HUMAN Homo sapiens (Human) # PANTHER PTHR18945 PTHR18945 # PRINTS PR00252 NRIONCHANNEL # PRINTS PR00254 NICOTINICR # PROSITE PS00236 NEUROTR_ION_CHANNEL # Pfam PF02931 Neur_chan_LBD # Pfam PF02932 Neur_chan_memb; 2 # Proteomes UP000005640 Chromosome 11 # RecName ACH10_HUMAN Neuronal acetylcholine receptor subunit alpha-10 # RefSeq NP_001289963 NM_001303034.1 # RefSeq NP_001289964 NM_001303035.1 # RefSeq NP_065135 NM_020402.3 # SIMILARITY Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Alpha- 10/CHRNA10 sub-subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION ACH10_HUMAN Cell junction, synapse, postsynaptic cell membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. Cell membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # SUBUNIT ACH10_HUMAN Forms heterooligomeric channels in conjunction with CHRNA9. The native outer hair cell receptor may be composed of CHRNA9-CHRNA10 heterooligomers. # SUPFAM SSF63712 SSF63712 # SUPFAM SSF90112 SSF90112 # TIGRFAMs TIGR00860 LIC # TISSUE SPECIFICITY ACH10_HUMAN Expressed in inner-ear tissue, tonsil, immortalized B-cells, cultured T-cells and peripheral blood lymphocytes. {ECO 0000269|PubMed 11752216, ECO 0000269|PubMed 15531379}. # UCSC uc001lyf human # eggNOG ENOG410XQGR LUCA # eggNOG KOG3645 Eukaryota BLAST swissprot:ACH10_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ACH10_HUMAN BioCyc ZFISH:ENSG00000129749-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000129749-MONOMER COXPRESdb 57053 http://coxpresdb.jp/data/gene/57053.shtml CleanEx HS_CHRNA10 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CHRNA10 DOI 10.1006/geno.2000.6503 http://dx.doi.org/10.1006/geno.2000.6503 DOI 10.1016/j.lfs.2004.05.031 http://dx.doi.org/10.1016/j.lfs.2004.05.031 DOI 10.1124/mol.61.1.150 http://dx.doi.org/10.1124/mol.61.1.150 DrugBank DB00184 http://www.drugbank.ca/drugs/DB00184 DrugBank DB00202 http://www.drugbank.ca/drugs/DB00202 DrugBank DB00333 http://www.drugbank.ca/drugs/DB00333 DrugBank DB00674 http://www.drugbank.ca/drugs/DB00674 DrugBank DB00898 http://www.drugbank.ca/drugs/DB00898 DrugBank DB01090 http://www.drugbank.ca/drugs/DB01090 DrugBank DB01116 http://www.drugbank.ca/drugs/DB01116 DrugBank DB01161 http://www.drugbank.ca/drugs/DB01161 EMBL AF199235 http://www.ebi.ac.uk/ena/data/view/AF199235 EMBL AF327367 http://www.ebi.ac.uk/ena/data/view/AF327367 EMBL AJ278118 http://www.ebi.ac.uk/ena/data/view/AJ278118 EMBL AJ295237 http://www.ebi.ac.uk/ena/data/view/AJ295237 Ensembl ENST00000250699 http://www.ensembl.org/id/ENST00000250699 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005892 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005892 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0030424 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030424 GO_component GO:0043204 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043204 GO_component GO:0045211 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045211 GO_function GO:0004889 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004889 GO_function GO:0005102 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005102 GO_function GO:0005262 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005262 GO_function GO:0042166 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042166 GO_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GO_process GO:0007204 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007204 GO_process GO:0007271 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007271 GO_process GO:0042127 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042127 GO_process GO:0042472 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042472 GO_process GO:0050910 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050910 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 Gene3D 1.20.120.370 http://www.cathdb.info/version/latest/superfamily/1.20.120.370 Gene3D 2.70.170.10 http://www.cathdb.info/version/latest/superfamily/2.70.170.10 GeneCards CHRNA10 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CHRNA10 GeneID 57053 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=57053 GeneTree ENSGT00790000122957 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00790000122957 HGNC HGNC:13800 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:13800 HOGENOM HOG000006756 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000006756&db=HOGENOM6 HOVERGEN HBG003756 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG003756&db=HOVERGEN InParanoid Q9GZZ6 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9GZZ6 InterPro IPR002394 http://www.ebi.ac.uk/interpro/entry/IPR002394 InterPro IPR006029 http://www.ebi.ac.uk/interpro/entry/IPR006029 InterPro IPR006201 http://www.ebi.ac.uk/interpro/entry/IPR006201 InterPro IPR006202 http://www.ebi.ac.uk/interpro/entry/IPR006202 InterPro IPR018000 http://www.ebi.ac.uk/interpro/entry/IPR018000 InterPro IPR027361 http://www.ebi.ac.uk/interpro/entry/IPR027361 Jabion 57053 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=57053 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:57053 http://www.genome.jp/dbget-bin/www_bget?hsa:57053 KEGG_Orthology KO:K04811 http://www.genome.jp/dbget-bin/www_bget?KO:K04811 KEGG_Pathway ko04080 http://www.genome.jp/kegg-bin/show_pathway?ko04080 MIM 606372 http://www.ncbi.nlm.nih.gov/omim/606372 OMA AQRCHED http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=AQRCHED OrthoDB EOG091G0R20 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0R20 PANTHER PTHR18945 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR18945 PRINTS PR00252 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00252 PRINTS PR00254 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00254 PROSITE PS00236 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00236 PSORT swissprot:ACH10_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ACH10_HUMAN PSORT-B swissprot:ACH10_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ACH10_HUMAN PSORT2 swissprot:ACH10_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ACH10_HUMAN Pfam PF02931 http://pfam.xfam.org/family/PF02931 Pfam PF02932 http://pfam.xfam.org/family/PF02932 PharmGKB PA26488 http://www.pharmgkb.org/do/serve?objId=PA26488&objCls=Gene Phobius swissprot:ACH10_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ACH10_HUMAN PhylomeDB Q9GZZ6 http://phylomedb.org/?seqid=Q9GZZ6 ProteinModelPortal Q9GZZ6 http://www.proteinmodelportal.org/query/uniprot/Q9GZZ6 PubMed 11350119 http://www.ncbi.nlm.nih.gov/pubmed/11350119 PubMed 11752216 http://www.ncbi.nlm.nih.gov/pubmed/11752216 PubMed 15531379 http://www.ncbi.nlm.nih.gov/pubmed/15531379 RefSeq NP_001289963 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001289963 RefSeq NP_001289964 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001289964 RefSeq NP_065135 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_065135 STRING 9606.ENSP00000250699 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000250699&targetmode=cogs SUPFAM SSF63712 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF63712 SUPFAM SSF90112 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF90112 TIGRFAMs TIGR00860 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00860 UCSC uc001lyf http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001lyf&org=rat UniGene Hs.732806 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.732806 UniProtKB ACH10_HUMAN http://www.uniprot.org/uniprot/ACH10_HUMAN UniProtKB-AC Q9GZZ6 http://www.uniprot.org/uniprot/Q9GZZ6 charge swissprot:ACH10_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ACH10_HUMAN eggNOG ENOG410XQGR http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XQGR eggNOG KOG3645 http://eggnogapi.embl.de/nog_data/html/tree/KOG3645 epestfind swissprot:ACH10_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ACH10_HUMAN garnier swissprot:ACH10_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ACH10_HUMAN helixturnhelix swissprot:ACH10_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ACH10_HUMAN hmoment swissprot:ACH10_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ACH10_HUMAN iep swissprot:ACH10_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ACH10_HUMAN inforesidue swissprot:ACH10_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ACH10_HUMAN neXtProt NX_Q9GZZ6 http://www.nextprot.org/db/entry/NX_Q9GZZ6 octanol swissprot:ACH10_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ACH10_HUMAN pepcoil swissprot:ACH10_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ACH10_HUMAN pepdigest swissprot:ACH10_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ACH10_HUMAN pepinfo swissprot:ACH10_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ACH10_HUMAN pepnet swissprot:ACH10_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ACH10_HUMAN pepstats swissprot:ACH10_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ACH10_HUMAN pepwheel swissprot:ACH10_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ACH10_HUMAN pepwindow swissprot:ACH10_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ACH10_HUMAN sigcleave swissprot:ACH10_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ACH10_HUMAN ## Database ID URL or Descriptions # AltName Solute carrier family 25 member 7 {ECO:0000303|PubMed 23266187} # AltName Thermogenin {ECO:0000250|UniProtKB P04575} # BioGrid 113197 3 # ENZYME REGULATION Has no constitutive proton transporter activity and has to be activated by long-chain fatty acids/LCFAs. Inhibited by purine nucleotides. Both purine nucleotides and LCFAs bind the cytosolic side of the transporter and directly compete to activate or inhibit it. Activated by noradrenaline and reactive oxygen species. {ECO:0000250|UniProtKB P12242}. # Ensembl ENST00000262999 ENSP00000262999; ENSG00000109424 # FUNCTION UCP1_HUMAN Mitochondrial protein responsible for thermogenic respiration, a specialized capacity of brown adipose tissue and beige fat that participates to non-shivering adaptive thermogenesis to temperature and diet variations and more generally to the regulation of energy balance (By similarity). Functions as a long-chain fatty acid/LCFA and proton symporter, simultaneously transporting one LCFA and one proton through the inner mitochondrial membrane (PubMed 24196960). However, LCFAs remaining associated with the transporter via their hydrophobic tails, it results in an apparent transport of protons activated by LCFAs. Thereby, dissipates the mitochondrial proton gradient and converts the energy of substrate oxydation into heat instead of ATP. Regulates the production of reactive oxygen species/ROS by mitochondria (By similarity). {ECO 0000250|UniProtKB P12242, ECO 0000269|PubMed 24196960}. # GO_component GO:0005739 mitochondrion; IDA:MGI. # GO_component GO:0005743 mitochondrial inner membrane; ISS:UniProtKB. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0017077 oxidative phosphorylation uncoupler activity; ISS:UniProtKB. # GO_function GO:0022857 transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0032555 purine ribonucleotide binding; ISS:UniProtKB. # GO_function GO:0036041 long-chain fatty acid binding; ISS:UniProtKB. # GO_function GO:1901612 cardiolipin binding; ISS:UniProtKB. # GO_process GO:0006357 regulation of transcription from RNA polymerase II promoter; IEA:Ensembl. # GO_process GO:0009266 response to temperature stimulus; ISS:UniProtKB. # GO_process GO:0015992 proton transport; IDA:UniProtKB. # GO_process GO:0031667 response to nutrient levels; ISS:UniProtKB. # GO_process GO:0032870 cellular response to hormone stimulus; ISS:UniProtKB. # GO_process GO:0034614 cellular response to reactive oxygen species; ISS:UniProtKB. # GO_process GO:0050873 brown fat cell differentiation; ISS:HGNC. # GO_process GO:0071398 cellular response to fatty acid; ISS:UniProtKB. # GO_process GO:1903426 regulation of reactive oxygen species biosynthetic process; ISS:UniProtKB. # GO_process GO:1990542 mitochondrial transmembrane transport; ISS:UniProtKB. # GO_process GO:1990845 adaptive thermogenesis; ISS:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005739 mitochondrion # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0008289 lipid binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0008150 biological_process # GOslim_process GO:0030154 cell differentiation # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.50.40.10 -; 1. # Genevisible P25874 HS # HGNC HGNC:12517 UCP1 # InterPro IPR002030 Mit_uncoupling # InterPro IPR018108 Mitochondrial_sb/sol_carrier # InterPro IPR023395 Mt_carrier_dom # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02001 Solute carrier family # KEGG_Pathway ko03320 PPAR signaling pathway # KEGG_Pathway ko05016 Huntington's disease # MIM 113730 gene # Organism UCP1_HUMAN Homo sapiens (Human) # PIR G01858 G01858 # PRINTS PR00784 MTUNCOUPLING # PROSITE PS50920 SOLCAR; 3 # PTM UCP1_HUMAN May undergo sulfenylation upon cold exposure. May increase the sensitivity of UCP1 thermogenic function to the activation by noradrenaline probably through structural effects. {ECO 0000250|UniProtKB P12242}. # PTM UCP1_HUMAN May undergo ubiquitin-mediated proteasomal degradation. {ECO 0000250|UniProtKB P04633}. # Pfam PF00153 Mito_carr; 3 # Proteomes UP000005640 Chromosome 4 # Reactome R-HSA-167826 The fatty acid cycling model # Reactome R-HSA-167827 The proton buffering model # RecName Mitochondrial brown fat uncoupling protein 1 {ECO 0000305} # RefSeq NP_068605 NM_021833.4 # SIMILARITY Belongs to the mitochondrial carrier (TC 2.A.29) family. {ECO 0000305}. # SIMILARITY Contains 3 Solcar repeats. {ECO:0000255|PROSITE- ProRule PRU00282}. # SUBCELLULAR LOCATION UCP1_HUMAN Mitochondrion inner membrane {ECO 0000250|UniProtKB P12242}; Multi-pass membrane protein {ECO 0000250|UniProtKB P04633}. # SUBUNIT UCP1_HUMAN Most probably functions as a monomer. Binds one purine nucleotide per monomer (By similarity). However, has also been suggested to function as a homodimer or a homotetramer (PubMed 24196960). Tightly associates with cardiolipin in the mitochondrion inner membrane; may stabilize and regulate its activity (PubMed 24196960). {ECO 0000250|UniProtKB W5PSH7, ECO 0000269|PubMed 24196960}. # SUPFAM SSF103506 SSF103506 # TCDB 2.A.29.3 the mitochondrial carrier (mc) family # TISSUE SPECIFICITY Brown adipose tissue. {ECO:0000269|PubMed 3165741}. # UCSC uc011chj human # eggNOG ENOG410XRV1 LUCA # eggNOG KOG0753 Eukaryota BLAST swissprot:UCP1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:UCP1_HUMAN BioCyc ZFISH:ENSG00000109424-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000109424-MONOMER COXPRESdb 7350 http://coxpresdb.jp/data/gene/7350.shtml CleanEx HS_UCP1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_UCP1 DOI 10.1002/jcb.240430306 http://dx.doi.org/10.1002/jcb.240430306 DOI 10.1007/s00109-003-0431-1 http://dx.doi.org/10.1007/s00109-003-0431-1 DOI 10.1007/s001250051629 http://dx.doi.org/10.1007/s001250051629 DOI 10.1016/j.mam.2012.05.005 http://dx.doi.org/10.1016/j.mam.2012.05.005 DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1042/cs0750021 http://dx.doi.org/10.1042/cs0750021 DOI 10.1074/jbc.M113.509935 http://dx.doi.org/10.1074/jbc.M113.509935 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AC108019 http://www.ebi.ac.uk/ena/data/view/AC108019 EMBL BC069556 http://www.ebi.ac.uk/ena/data/view/BC069556 EMBL BC098168 http://www.ebi.ac.uk/ena/data/view/BC098168 EMBL BC098258 http://www.ebi.ac.uk/ena/data/view/BC098258 EMBL U28480 http://www.ebi.ac.uk/ena/data/view/U28480 EMBL X51952 http://www.ebi.ac.uk/ena/data/view/X51952 EMBL X51953 http://www.ebi.ac.uk/ena/data/view/X51953 EMBL X51954 http://www.ebi.ac.uk/ena/data/view/X51954 EMBL X51955 http://www.ebi.ac.uk/ena/data/view/X51955 Ensembl ENST00000262999 http://www.ensembl.org/id/ENST00000262999 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0017077 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0017077 GO_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GO_function GO:0032555 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032555 GO_function GO:0036041 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0036041 GO_function GO:1901612 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1901612 GO_process GO:0006357 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006357 GO_process GO:0009266 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009266 GO_process GO:0015992 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015992 GO_process GO:0031667 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031667 GO_process GO:0032870 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032870 GO_process GO:0034614 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034614 GO_process GO:0050873 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050873 GO_process GO:0071398 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071398 GO_process GO:1903426 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903426 GO_process GO:1990542 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1990542 GO_process GO:1990845 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1990845 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0008289 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008289 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0030154 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030154 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.50.40.10 http://www.cathdb.info/version/latest/superfamily/1.50.40.10 GeneCards UCP1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=UCP1 GeneID 7350 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=7350 GeneTree ENSGT00760000119170 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119170 HGNC HGNC:12517 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:12517 HOGENOM HOG000165140 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000165140&db=HOGENOM6 HOVERGEN HBG009528 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG009528&db=HOVERGEN HPA CAB037199 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB037199 InParanoid P25874 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P25874 InterPro IPR002030 http://www.ebi.ac.uk/interpro/entry/IPR002030 InterPro IPR018108 http://www.ebi.ac.uk/interpro/entry/IPR018108 InterPro IPR023395 http://www.ebi.ac.uk/interpro/entry/IPR023395 Jabion 7350 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=7350 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:7350 http://www.genome.jp/dbget-bin/www_bget?hsa:7350 KEGG_Orthology KO:K08769 http://www.genome.jp/dbget-bin/www_bget?KO:K08769 KEGG_Pathway ko03320 http://www.genome.jp/kegg-bin/show_pathway?ko03320 KEGG_Pathway ko05016 http://www.genome.jp/kegg-bin/show_pathway?ko05016 MIM 113730 http://www.ncbi.nlm.nih.gov/omim/113730 OMA KMFTNEG http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=KMFTNEG OrthoDB EOG091G0BQ7 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0BQ7 PRINTS PR00784 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00784 PROSITE PS50920 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50920 PSORT swissprot:UCP1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:UCP1_HUMAN PSORT-B swissprot:UCP1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:UCP1_HUMAN PSORT2 swissprot:UCP1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:UCP1_HUMAN Pfam PF00153 http://pfam.xfam.org/family/PF00153 PharmGKB PA37164 http://www.pharmgkb.org/do/serve?objId=PA37164&objCls=Gene Phobius swissprot:UCP1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:UCP1_HUMAN PhylomeDB P25874 http://phylomedb.org/?seqid=P25874 ProteinModelPortal P25874 http://www.proteinmodelportal.org/query/uniprot/P25874 PubMed 11317671 http://www.ncbi.nlm.nih.gov/pubmed/11317671 PubMed 12756473 http://www.ncbi.nlm.nih.gov/pubmed/12756473 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 PubMed 23266187 http://www.ncbi.nlm.nih.gov/pubmed/23266187 PubMed 2380264 http://www.ncbi.nlm.nih.gov/pubmed/2380264 PubMed 24196960 http://www.ncbi.nlm.nih.gov/pubmed/24196960 PubMed 3165741 http://www.ncbi.nlm.nih.gov/pubmed/3165741 Reactome R-HSA-167826 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-167826 Reactome R-HSA-167827 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-167827 RefSeq NP_068605 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_068605 STRING 9606.ENSP00000262999 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000262999&targetmode=cogs SUPFAM SSF103506 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103506 TCDB 2.A.29.3 http://www.tcdb.org/search/result.php?tc=2.A.29.3 UCSC uc011chj http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc011chj&org=rat UniGene Hs.249211 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.249211 UniProtKB UCP1_HUMAN http://www.uniprot.org/uniprot/UCP1_HUMAN UniProtKB-AC P25874 http://www.uniprot.org/uniprot/P25874 charge swissprot:UCP1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:UCP1_HUMAN eggNOG ENOG410XRV1 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XRV1 eggNOG KOG0753 http://eggnogapi.embl.de/nog_data/html/tree/KOG0753 epestfind swissprot:UCP1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:UCP1_HUMAN garnier swissprot:UCP1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:UCP1_HUMAN helixturnhelix swissprot:UCP1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:UCP1_HUMAN hmoment swissprot:UCP1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:UCP1_HUMAN iep swissprot:UCP1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:UCP1_HUMAN inforesidue swissprot:UCP1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:UCP1_HUMAN neXtProt NX_P25874 http://www.nextprot.org/db/entry/NX_P25874 octanol swissprot:UCP1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:UCP1_HUMAN pepcoil swissprot:UCP1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:UCP1_HUMAN pepdigest swissprot:UCP1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:UCP1_HUMAN pepinfo swissprot:UCP1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:UCP1_HUMAN pepnet swissprot:UCP1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:UCP1_HUMAN pepstats swissprot:UCP1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:UCP1_HUMAN pepwheel swissprot:UCP1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:UCP1_HUMAN pepwindow swissprot:UCP1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:UCP1_HUMAN sigcleave swissprot:UCP1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:UCP1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS SL9B1_HUMAN Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q4ZJI4-1; Sequence=Displayed; Name=2; IsoId=Q4ZJI4-2; Sequence=VSP_030175, VSP_030180; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=3; IsoId=Q4ZJI4-3; Sequence=VSP_030180; Name=4; IsoId=Q4ZJI4-5; Sequence=VSP_030176, VSP_030177; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; # AltName SL9B1_HUMAN Na(+)/H(+) exchanger-like domain-containing protein 1 # AltName SL9B1_HUMAN Sodium/hydrogen exchanger-like domain-containing protein 1 # AltName SL9B1_HUMAN Solute carrier family 9 subfamily B member 1 # CCDS CCDS34041 -. [Q4ZJI4-1] # CCDS CCDS47119 -. [Q4ZJI4-3] # ChiTaRS SLC9B1 human # Ensembl ENST00000296422 ENSP00000296422; ENSG00000164037. [Q4ZJI4-1] # Ensembl ENST00000394789 ENSP00000378269; ENSG00000164037. [Q4ZJI4-3] # Ensembl ENST00000503584 ENSP00000426926; ENSG00000164037. [Q4ZJI4-5] # Ensembl ENST00000510243 ENSP00000425913; ENSG00000164037. [Q4ZJI4-5] # ExpressionAtlas Q4ZJI4 baseline and differential # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function SL9B1_HUMAN GO 0015385 sodium proton antiporter activity; TAS Reactome. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0055085 transmembrane transport # Genevisible Q4ZJI4 HS # HGNC HGNC:24244 SLC9B1 # InterPro IPR006153 Cation/H_exchanger # MIM 611527 gene # Organism SL9B1_HUMAN Homo sapiens (Human) # Pfam PF00999 Na_H_Exchanger # Proteomes UP000005640 Chromosome 4 # Reactome R-HSA-2672351 Stimuli-sensing channels # RecName SL9B1_HUMAN Sodium/hydrogen exchanger 9B1 # RefSeq NP_001094344 NM_001100874.2 # RefSeq NP_631912 NM_139173.3 # RefSeq XP_006714156 XM_006714093.3. [Q4ZJI4-1] # RefSeq XP_011529924 XM_011531622.1. [Q4ZJI4-1] # RefSeq XP_011529925 XM_011531623.1. [Q4ZJI4-1] # SEQUENCE CAUTION Sequence=AAM22868.1; Type=Frameshift; Positions=219, 298, 381; Evidence={ECO 0000305}; # SIMILARITY Belongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family. {ECO 0000305}. # SUBCELLULAR LOCATION SL9B1_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # TCDB 2.A.36.2:the monovalent cation proton antiporter-1 (cpa1) family # TISSUE SPECIFICITY Expressed only in the testis. {ECO:0000269|PubMed 16850186}. # UCSC uc003hwu human. [Q4ZJI4-1] # eggNOG COG0025 LUCA # eggNOG KOG3826 Eukaryota BLAST swissprot:SL9B1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SL9B1_HUMAN BioCyc ZFISH:G66-31690-MONOMER http://biocyc.org/getid?id=ZFISH:G66-31690-MONOMER COXPRESdb 150159 http://coxpresdb.jp/data/gene/150159.shtml CleanEx HS_NHEDC1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_NHEDC1 DOI 10.1007/s11033-006-0010-y http://dx.doi.org/10.1007/s11033-006-0010-y DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AC018797 http://www.ebi.ac.uk/ena/data/view/AC018797 EMBL AC083826 http://www.ebi.ac.uk/ena/data/view/AC083826 EMBL AF447585 http://www.ebi.ac.uk/ena/data/view/AF447585 EMBL AY461581 http://www.ebi.ac.uk/ena/data/view/AY461581 EMBL BC022079 http://www.ebi.ac.uk/ena/data/view/BC022079 EMBL BC046636 http://www.ebi.ac.uk/ena/data/view/BC046636 EMBL BC110794 http://www.ebi.ac.uk/ena/data/view/BC110794 EMBL BC132712 http://www.ebi.ac.uk/ena/data/view/BC132712 EMBL BC136966 http://www.ebi.ac.uk/ena/data/view/BC136966 EMBL CH471057 http://www.ebi.ac.uk/ena/data/view/CH471057 EMBL DQ003059 http://www.ebi.ac.uk/ena/data/view/DQ003059 Ensembl ENST00000296422 http://www.ensembl.org/id/ENST00000296422 Ensembl ENST00000394789 http://www.ensembl.org/id/ENST00000394789 Ensembl ENST00000503584 http://www.ensembl.org/id/ENST00000503584 Ensembl ENST00000510243 http://www.ensembl.org/id/ENST00000510243 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0015385 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015385 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC9B1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC9B1 GeneID 150159 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=150159 GeneTree ENSGT00390000013285 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000013285 HGNC HGNC:24244 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:24244 HOVERGEN HBG108184 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG108184&db=HOVERGEN HPA HPA035435 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA035435 InParanoid Q4ZJI4 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q4ZJI4 InterPro IPR006153 http://www.ebi.ac.uk/interpro/entry/IPR006153 Jabion 150159 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=150159 KEGG_Gene hsa:150159 http://www.genome.jp/dbget-bin/www_bget?hsa:150159 MIM 611527 http://www.ncbi.nlm.nih.gov/omim/611527 OMA PCLMEAC http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=PCLMEAC OrthoDB EOG091G06PH http://cegg.unige.ch/orthodb/results?searchtext=EOG091G06PH PSORT swissprot:SL9B1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SL9B1_HUMAN PSORT-B swissprot:SL9B1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SL9B1_HUMAN PSORT2 swissprot:SL9B1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SL9B1_HUMAN Pfam PF00999 http://pfam.xfam.org/family/PF00999 PharmGKB PA162397486 http://www.pharmgkb.org/do/serve?objId=PA162397486&objCls=Gene Phobius swissprot:SL9B1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SL9B1_HUMAN PhylomeDB Q4ZJI4 http://phylomedb.org/?seqid=Q4ZJI4 ProteinModelPortal Q4ZJI4 http://www.proteinmodelportal.org/query/uniprot/Q4ZJI4 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 PubMed 16850186 http://www.ncbi.nlm.nih.gov/pubmed/16850186 Reactome R-HSA-2672351 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2672351 RefSeq NP_001094344 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001094344 RefSeq NP_631912 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_631912 RefSeq XP_006714156 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006714156 RefSeq XP_011529924 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011529924 RefSeq XP_011529925 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011529925 SMR Q4ZJI4 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q4ZJI4 STRING 9606.ENSP00000296422 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000296422&targetmode=cogs TCDB 2.A.36.2 http://www.tcdb.org/search/result.php?tc=2.A.36.2 UCSC uc003hwu http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003hwu&org=rat UniGene Hs.666728 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.666728 UniProtKB SL9B1_HUMAN http://www.uniprot.org/uniprot/SL9B1_HUMAN UniProtKB-AC Q4ZJI4 http://www.uniprot.org/uniprot/Q4ZJI4 charge swissprot:SL9B1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SL9B1_HUMAN eggNOG COG0025 http://eggnogapi.embl.de/nog_data/html/tree/COG0025 eggNOG KOG3826 http://eggnogapi.embl.de/nog_data/html/tree/KOG3826 epestfind swissprot:SL9B1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SL9B1_HUMAN garnier swissprot:SL9B1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SL9B1_HUMAN helixturnhelix swissprot:SL9B1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SL9B1_HUMAN hmoment swissprot:SL9B1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SL9B1_HUMAN iep swissprot:SL9B1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SL9B1_HUMAN inforesidue swissprot:SL9B1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SL9B1_HUMAN neXtProt NX_Q4ZJI4 http://www.nextprot.org/db/entry/NX_Q4ZJI4 octanol swissprot:SL9B1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SL9B1_HUMAN pepcoil swissprot:SL9B1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SL9B1_HUMAN pepdigest swissprot:SL9B1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SL9B1_HUMAN pepinfo swissprot:SL9B1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SL9B1_HUMAN pepnet swissprot:SL9B1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SL9B1_HUMAN pepstats swissprot:SL9B1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SL9B1_HUMAN pepwheel swissprot:SL9B1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SL9B1_HUMAN pepwindow swissprot:SL9B1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SL9B1_HUMAN sigcleave swissprot:SL9B1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SL9B1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS KCIP1_HUMAN Event=Alternative splicing; Named isoforms=5; Name=1; Synonyms=KCHIP1b; IsoId=Q9NZI2-1; Sequence=Displayed; Name=2; Synonyms=KCHIP1a; IsoId=Q9NZI2-2; Sequence=VSP_015044, VSP_047686; Name=3; IsoId=Q9NZI2-3; Sequence=VSP_015043; Name=4; IsoId=Q9NZI2-4; Sequence=VSP_041511; Name=5; IsoId=Q9NZI2-5; Sequence=VSP_015044, VSP_047687; # AltName KCIP1_HUMAN A-type potassium channel modulatory protein 1 # AltName KCIP1_HUMAN Potassium channel-interacting protein 1 # AltName KCIP1_HUMAN Vesicle APC-binding protein # BioGrid 119044 5 # CCDS CCDS34285 -. [Q9NZI2-4] # CCDS CCDS34286 -. [Q9NZI2-1] # CCDS CCDS64312 -. [Q9NZI2-5] # CCDS CCDS64313 -. [Q9NZI2-3] # CDD cd00051 EFh; 2 # ChiTaRS KCNIP1 human # Ensembl ENST00000377360 ENSP00000366577; ENSG00000182132. [Q9NZI2-4] # Ensembl ENST00000411494 ENSP00000395323; ENSG00000182132. [Q9NZI2-1] # Ensembl ENST00000434108 ENSP00000414886; ENSG00000182132. [Q9NZI2-5] # Ensembl ENST00000520740 ENSP00000431102; ENSG00000182132. [Q9NZI2-3] # ExpressionAtlas Q9NZI2 baseline and differential # FUNCTION KCIP1_HUMAN Regulatory subunit of Kv4/D (Shal)-type voltage-gated rapidly inactivating A-type potassium channels. Regulates channel density, inactivation kinetics and rate of recovery from inactivation in a calcium-dependent and isoform-specific manner. In vitro, modulates KCND1/Kv4.1 and KCND2/Kv4.2 currents. Increases the presence of KCND2 at the cell surface. {ECO 0000269|PubMed 10676964, ECO 0000269|PubMed 11423117, ECO 0000269|PubMed 12829703, ECO 0000269|PubMed 17187064}. # GO_component GO:0005737 cytoplasm; IDA:UniProtKB. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0008076 voltage-gated potassium channel complex; IDA:UniProtKB. # GO_component GO:0030425 dendrite; IEA:UniProtKB-SubCell. # GO_component GO:0031234 extrinsic component of cytoplasmic side of plasma membrane; IDA:UniProtKB. # GO_function GO:0005244 voltage-gated ion channel activity; IEA:UniProtKB-KW. # GO_function GO:0005267 potassium channel activity; IEA:UniProtKB-KW. # GO_function GO:0005509 calcium ion binding; IDA:UniProtKB. # GO_function GO:0015459 potassium channel regulator activity; IDA:UniProtKB. # GO_process GO:0061337 cardiac conduction; TAS:Reactome. # GO_process GO:1901379 regulation of potassium ion transmembrane transport; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0008150 biological_process # Gene3D 1.10.238.10 -; 3. # Genevisible Q9NZI2 HS # HGNC HGNC:15521 KCNIP1 # INTERACTION KCIP1_HUMAN Q9NZV8 KCND2; NbExp=4; IntAct=EBI-2120635, EBI-1646745; Q9UK17 KCND3; NbExp=3; IntAct=EBI-2120635, EBI-9825212; Q9NS61-3 KCNIP2; NbExp=4; IntAct=EBI-2120635, EBI-1053010; # IntAct Q9NZI2 3 # InterPro IPR002048 EF_hand_dom # InterPro IPR011992 EF-hand-dom_pair # InterPro IPR018247 EF_Hand_1_Ca_BS # InterPro IPR028846 Recoverin # MIM 604660 gene # Organism KCIP1_HUMAN Homo sapiens (Human) # PANTHER PTHR23055 PTHR23055 # PDB 1S1E X-ray; 2.30 A; A=1-227 # PDB 2I2R X-ray; 3.35 A; E/F/G/H/M/N/O/P=48-227 # PDB 2NZ0 X-ray; 3.20 A; A/C=49-227 # PROSITE PS00018 EF_HAND_1; 2 # PROSITE PS50222 EF_HAND_2; 3 # Pfam PF13499 EF-hand_7 # Pfam PF13833 EF-hand_8 # Proteomes UP000005640 Chromosome 5 # Reactome R-HSA-5576894 Phase 1 - inactivation of fast Na+ channels # RecName KCIP1_HUMAN Kv channel-interacting protein 1 # RefSeq NP_001030009 NM_001034837.2. [Q9NZI2-1] # RefSeq NP_001030010 NM_001034838.2. [Q9NZI2-4] # RefSeq NP_001265268 NM_001278339.1. [Q9NZI2-5] # RefSeq NP_001265269 NM_001278340.1. [Q9NZI2-3] # RefSeq NP_055407 NM_014592.3 # RefSeq XP_016864896 XM_017009407.1. [Q9NZI2-4] # SIMILARITY Belongs to the recoverin family. {ECO 0000305}. # SIMILARITY Contains 4 EF-hand domains. {ECO:0000255|PROSITE- ProRule PRU00448}. # SMART SM00054 EFh; 3 # SUBCELLULAR LOCATION KCIP1_HUMAN Cell membrane {ECO 0000269|PubMed 10676964}; Peripheral membrane protein {ECO 0000305|PubMed 10676964}. Cytoplasm {ECO 0000269|PubMed 10676964}. Cell projection, dendrite {ECO 0000250|UniProtKB Q8R426}. # SUBUNIT KCIP1_HUMAN Component of heteromultimeric potassium channels. Identified in potassium channel complexes containing KCND1, KCND2, KCND3, KCNIP1, KCNIP2, KCNIP3, KCNIP4, DPP6 and DPP10 (By similarity). Part of a heterooctamer composed of the tetrameric channel and four KCNIP1 chains. Interacts with KCND3 and the N- terminal domain of KCND2. Probably part of a complex consisting of KCNIP1, KCNIP2 isoform 3 and KCND2. Self-associates to form homodimers and homotetramers. Interacts with KCNIP2 isoform 3 in a calcium-dependent manner. Interacts with Naja atra venom CTX3. {ECO 0000250|UniProtKB Q9JJ57, ECO 0000269|PubMed 10676964, ECO 0000269|PubMed 14980207, ECO 0000269|PubMed 15184042, ECO 0000269|PubMed 15358149, ECO 0000269|PubMed 17057713, ECO 0000269|PubMed 17187064}. # SUPFAM SSF47473 SSF47473 # TISSUE SPECIFICITY KCIP1_HUMAN Isoform 1 and isoform 2 are expressed in brain and kidney. Isoform 1 is also expressed in liver, pancreas, skeletal muscle, small intestine and testis. Isoform 2 is also expressed in lung, pancreas, leukocytes, prostate and thymus. # UCSC uc003map human. [Q9NZI2-1] # eggNOG COG5126 LUCA # eggNOG KOG0044 Eukaryota BLAST swissprot:KCIP1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCIP1_HUMAN BioCyc ZFISH:G66-33457-MONOMER http://biocyc.org/getid?id=ZFISH:G66-33457-MONOMER COXPRESdb 30820 http://coxpresdb.jp/data/gene/30820.shtml CleanEx HS_KCNIP1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNIP1 DIP DIP-29246N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-29246N DOI 10.1016/S0014-5793(01)02560-1 http://dx.doi.org/10.1016/S0014-5793(01)02560-1 DOI 10.1016/S0896-6273(04)00049-2 http://dx.doi.org/10.1016/S0896-6273(04)00049-2 DOI 10.1016/S1044-7431(03)00174-X http://dx.doi.org/10.1016/S1044-7431(03)00174-X DOI 10.1016/j.bbrc.2004.05.064 http://dx.doi.org/10.1016/j.bbrc.2004.05.064 DOI 10.1016/j.bbrc.2004.07.006 http://dx.doi.org/10.1016/j.bbrc.2004.07.006 DOI 10.1016/j.ygeno.2005.07.001 http://dx.doi.org/10.1016/j.ygeno.2005.07.001 DOI 10.1038/35000592 http://dx.doi.org/10.1038/35000592 DOI 10.1038/nature02919 http://dx.doi.org/10.1038/nature02919 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1038/nn1822 http://dx.doi.org/10.1038/nn1822 DOI 10.1038/nsmb1164 http://dx.doi.org/10.1038/nsmb1164 DOI 10.1074/jbc.M306142200 http://dx.doi.org/10.1074/jbc.M306142200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AC008619 http://www.ebi.ac.uk/ena/data/view/AC008619 EMBL AC008719 http://www.ebi.ac.uk/ena/data/view/AC008719 EMBL AC027306 http://www.ebi.ac.uk/ena/data/view/AC027306 EMBL AC027312 http://www.ebi.ac.uk/ena/data/view/AC027312 EMBL AC034199 http://www.ebi.ac.uk/ena/data/view/AC034199 EMBL AC113432 http://www.ebi.ac.uk/ena/data/view/AC113432 EMBL AC134820 http://www.ebi.ac.uk/ena/data/view/AC134820 EMBL AF199597 http://www.ebi.ac.uk/ena/data/view/AF199597 EMBL AK301775 http://www.ebi.ac.uk/ena/data/view/AK301775 EMBL AY170821 http://www.ebi.ac.uk/ena/data/view/AY170821 EMBL AY780424 http://www.ebi.ac.uk/ena/data/view/AY780424 EMBL BC050375 http://www.ebi.ac.uk/ena/data/view/BC050375 EMBL CH471062 http://www.ebi.ac.uk/ena/data/view/CH471062 EMBL DQ148476 http://www.ebi.ac.uk/ena/data/view/DQ148476 EMBL DQ148477 http://www.ebi.ac.uk/ena/data/view/DQ148477 EMBL DQ148478 http://www.ebi.ac.uk/ena/data/view/DQ148478 EMBL DQ148479 http://www.ebi.ac.uk/ena/data/view/DQ148479 Ensembl ENST00000377360 http://www.ensembl.org/id/ENST00000377360 Ensembl ENST00000411494 http://www.ensembl.org/id/ENST00000411494 Ensembl ENST00000434108 http://www.ensembl.org/id/ENST00000434108 Ensembl ENST00000520740 http://www.ensembl.org/id/ENST00000520740 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0008076 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008076 GO_component GO:0030425 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030425 GO_component GO:0031234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031234 GO_function GO:0005244 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005244 GO_function GO:0005267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005267 GO_function GO:0005509 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005509 GO_function GO:0015459 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015459 GO_process GO:0061337 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061337 GO_process GO:1901379 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1901379 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 Gene3D 1.10.238.10 http://www.cathdb.info/version/latest/superfamily/1.10.238.10 GeneCards KCNIP1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNIP1 GeneID 30820 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=30820 GeneTree ENSGT00760000118820 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118820 HGNC HGNC:15521 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:15521 HOGENOM HOG000233019 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000233019&db=HOGENOM6 HOVERGEN HBG108179 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG108179&db=HOVERGEN HPA HPA022864 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA022864 InParanoid Q9NZI2 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9NZI2 IntAct Q9NZI2 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9NZI2* InterPro IPR002048 http://www.ebi.ac.uk/interpro/entry/IPR002048 InterPro IPR011992 http://www.ebi.ac.uk/interpro/entry/IPR011992 InterPro IPR018247 http://www.ebi.ac.uk/interpro/entry/IPR018247 InterPro IPR028846 http://www.ebi.ac.uk/interpro/entry/IPR028846 Jabion 30820 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=30820 KEGG_Gene hsa:30820 http://www.genome.jp/dbget-bin/www_bget?hsa:30820 MIM 604660 http://www.ncbi.nlm.nih.gov/omim/604660 OMA TDAPKQH http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=TDAPKQH OrthoDB EOG091G11T4 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G11T4 PANTHER PTHR23055 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR23055 PDB 1S1E http://www.ebi.ac.uk/pdbe-srv/view/entry/1S1E PDB 2I2R http://www.ebi.ac.uk/pdbe-srv/view/entry/2I2R PDB 2NZ0 http://www.ebi.ac.uk/pdbe-srv/view/entry/2NZ0 PDBsum 1S1E http://www.ebi.ac.uk/pdbsum/1S1E PDBsum 2I2R http://www.ebi.ac.uk/pdbsum/2I2R PDBsum 2NZ0 http://www.ebi.ac.uk/pdbsum/2NZ0 PROSITE PS00018 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00018 PROSITE PS50222 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50222 PSORT swissprot:KCIP1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCIP1_HUMAN PSORT-B swissprot:KCIP1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCIP1_HUMAN PSORT2 swissprot:KCIP1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCIP1_HUMAN Pfam PF13499 http://pfam.xfam.org/family/PF13499 Pfam PF13833 http://pfam.xfam.org/family/PF13833 PharmGKB PA30041 http://www.pharmgkb.org/do/serve?objId=PA30041&objCls=Gene Phobius swissprot:KCIP1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCIP1_HUMAN PhylomeDB Q9NZI2 http://phylomedb.org/?seqid=Q9NZI2 ProteinModelPortal Q9NZI2 http://www.proteinmodelportal.org/query/uniprot/Q9NZI2 PubMed 10676964 http://www.ncbi.nlm.nih.gov/pubmed/10676964 PubMed 11423117 http://www.ncbi.nlm.nih.gov/pubmed/11423117 PubMed 12829703 http://www.ncbi.nlm.nih.gov/pubmed/12829703 PubMed 14572458 http://www.ncbi.nlm.nih.gov/pubmed/14572458 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 14980207 http://www.ncbi.nlm.nih.gov/pubmed/14980207 PubMed 15184042 http://www.ncbi.nlm.nih.gov/pubmed/15184042 PubMed 15358149 http://www.ncbi.nlm.nih.gov/pubmed/15358149 PubMed 15372022 http://www.ncbi.nlm.nih.gov/pubmed/15372022 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16112838 http://www.ncbi.nlm.nih.gov/pubmed/16112838 PubMed 17057713 http://www.ncbi.nlm.nih.gov/pubmed/17057713 PubMed 17187064 http://www.ncbi.nlm.nih.gov/pubmed/17187064 Reactome R-HSA-5576894 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576894 RefSeq NP_001030009 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001030009 RefSeq NP_001030010 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001030010 RefSeq NP_001265268 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001265268 RefSeq NP_001265269 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001265269 RefSeq NP_055407 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_055407 RefSeq XP_016864896 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016864896 SMART SM00054 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00054 SMR Q9NZI2 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9NZI2 STRING 9606.ENSP00000395323 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000395323&targetmode=cogs SUPFAM SSF47473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF47473 UCSC uc003map http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003map&org=rat UniGene Hs.484111 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.484111 UniProtKB KCIP1_HUMAN http://www.uniprot.org/uniprot/KCIP1_HUMAN UniProtKB-AC Q9NZI2 http://www.uniprot.org/uniprot/Q9NZI2 charge swissprot:KCIP1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCIP1_HUMAN eggNOG COG5126 http://eggnogapi.embl.de/nog_data/html/tree/COG5126 eggNOG KOG0044 http://eggnogapi.embl.de/nog_data/html/tree/KOG0044 epestfind swissprot:KCIP1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCIP1_HUMAN garnier swissprot:KCIP1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCIP1_HUMAN helixturnhelix swissprot:KCIP1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCIP1_HUMAN hmoment swissprot:KCIP1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCIP1_HUMAN iep swissprot:KCIP1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCIP1_HUMAN inforesidue swissprot:KCIP1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCIP1_HUMAN neXtProt NX_Q9NZI2 http://www.nextprot.org/db/entry/NX_Q9NZI2 octanol swissprot:KCIP1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCIP1_HUMAN pepcoil swissprot:KCIP1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCIP1_HUMAN pepdigest swissprot:KCIP1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCIP1_HUMAN pepinfo swissprot:KCIP1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCIP1_HUMAN pepnet swissprot:KCIP1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCIP1_HUMAN pepstats swissprot:KCIP1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCIP1_HUMAN pepwheel swissprot:KCIP1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCIP1_HUMAN pepwindow swissprot:KCIP1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCIP1_HUMAN sigcleave swissprot:KCIP1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCIP1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS KCNKA_HUMAN Event=Alternative splicing; Named isoforms=3; Name=A; Synonyms=TREK-2a; IsoId=P57789-1; Sequence=Displayed; Name=B; Synonyms=TREK-2b; IsoId=P57789-4; Sequence=VSP_006697; Name=C; Synonyms=TREK-2c; IsoId=P57789-3; Sequence=VSP_006698; # AltName KCNKA_HUMAN Outward rectifying potassium channel protein TREK-2 # AltName KCNKA_HUMAN TREK-2 K(+) channel subunit # CCDS CCDS9880 -. [P57789-1] # CCDS CCDS9881 -. [P57789-3] # CCDS CCDS9882 -. [P57789-4] # ChiTaRS KCNK10 human # Ensembl ENST00000312350 ENSP00000310568; ENSG00000100433. [P57789-4] # Ensembl ENST00000319231 ENSP00000312811; ENSG00000100433. [P57789-3] # Ensembl ENST00000340700 ENSP00000343104; ENSG00000100433. [P57789-1] # ExpressionAtlas P57789 baseline and differential # FUNCTION KCNKA_HUMAN Outward rectifying potassium channel. Produces rapidly activating and non-inactivating outward rectifier K(+) currents. Activated by arachidonic acid and other naturally occurring unsaturated free fatty acids. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_function GO:0005244 voltage-gated ion channel activity; IEA:UniProtKB-KW. # GO_function GO:0005267 potassium channel activity; TAS:ProtInc. # GO_function GO:0022841 potassium ion leak channel activity; IBA:GO_Central. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0007165 signal transduction; NAS:ProtInc. # GO_process GO:0007613 memory; IEA:Ensembl. # GO_process GO:0030322 stabilization of membrane potential; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0050877 neurological system process # Genevisible P57789 HS # HGNC HGNC:6273 KCNK10 # IntAct P57789 2 # InterPro IPR003280 2pore_dom_K_chnl # InterPro IPR003976 2pore_dom_K_chnl_TREK # InterPro IPR013099 K_chnl_dom # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04971 Gastric acid secretion # MIM 605873 gene # Organism KCNKA_HUMAN Homo sapiens (Human) # PDB 4BW5 X-ray; 3.20 A; A/B/C/D=62-335 # PDB 4XDJ X-ray; 3.80 A; A/B/C/D=62-335 # PDB 4XDK X-ray; 3.60 A; A/B/C/D=62-335 # PDB 4XDL X-ray; 3.50 A; A/B/C/D=62-335 # PRINTS PR01333 2POREKCHANEL # PRINTS PR01499 TREKCHANNEL # Pfam PF07885 Ion_trans_2; 2 # Proteomes UP000005640 Chromosome 14 # Reactome R-HSA-1299503 TWIK related potassium channel (TREK) # Reactome R-HSA-5576886 Phase 4 - resting membrane potential # RecName KCNKA_HUMAN Potassium channel subfamily K member 10 # RefSeq NP_066984 NM_021161.4. [P57789-1] # RefSeq NP_612190 NM_138317.2. [P57789-3] # RefSeq NP_612191 NM_138318.2. [P57789-4] # SIMILARITY Belongs to the two pore domain potassium channel (TC 1.A.1.8) family. {ECO 0000305}. # SUBCELLULAR LOCATION KCNKA_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # TISSUE SPECIFICITY KCNKA_HUMAN Abundantly expressed in pancreas and kidney and to a lower level in brain, testis, colon, and small intestine. Isoform b is strongly expressed in kidney (primarily in the proximal tubule) and pancreas, whereas isoform c is abundantly expressed in brain. # UCSC uc001xwm human. [P57789-1] # eggNOG COG1226 LUCA # eggNOG KOG1418 Eukaryota BLAST swissprot:KCNKA_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCNKA_HUMAN BioCyc ZFISH:ENSG00000100433-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000100433-MONOMER COXPRESdb 54207 http://coxpresdb.jp/data/gene/54207.shtml CleanEx HS_KCNK10 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNK10 DIP DIP-44050N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-44050N DOI 10.1038/bjp.2008.213 http://dx.doi.org/10.1038/bjp.2008.213 DOI 10.1038/nature01348 http://dx.doi.org/10.1038/nature01348 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.M002822200 http://dx.doi.org/10.1074/jbc.M002822200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1113/jphysiol.2001.013432 http://dx.doi.org/10.1113/jphysiol.2001.013432 EMBL AF279890 http://www.ebi.ac.uk/ena/data/view/AF279890 EMBL AF385399 http://www.ebi.ac.uk/ena/data/view/AF385399 EMBL AF385400 http://www.ebi.ac.uk/ena/data/view/AF385400 EMBL AK313499 http://www.ebi.ac.uk/ena/data/view/AK313499 EMBL AK315263 http://www.ebi.ac.uk/ena/data/view/AK315263 EMBL AL049834 http://www.ebi.ac.uk/ena/data/view/AL049834 EMBL AL133279 http://www.ebi.ac.uk/ena/data/view/AL133279 EMBL BC075021 http://www.ebi.ac.uk/ena/data/view/BC075021 EMBL BC075022 http://www.ebi.ac.uk/ena/data/view/BC075022 EMBL CH471061 http://www.ebi.ac.uk/ena/data/view/CH471061 EMBL CH471061 http://www.ebi.ac.uk/ena/data/view/CH471061 EMBL CH471061 http://www.ebi.ac.uk/ena/data/view/CH471061 EMBL EU978938 http://www.ebi.ac.uk/ena/data/view/EU978938 EMBL EU978939 http://www.ebi.ac.uk/ena/data/view/EU978939 EMBL EU978940 http://www.ebi.ac.uk/ena/data/view/EU978940 EMBL EU978941 http://www.ebi.ac.uk/ena/data/view/EU978941 Ensembl ENST00000312350 http://www.ensembl.org/id/ENST00000312350 Ensembl ENST00000319231 http://www.ensembl.org/id/ENST00000319231 Ensembl ENST00000340700 http://www.ensembl.org/id/ENST00000340700 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0005244 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005244 GO_function GO:0005267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005267 GO_function GO:0022841 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022841 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GO_process GO:0007613 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007613 GO_process GO:0030322 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030322 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GeneCards KCNK10 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNK10 GeneID 54207 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=54207 GeneTree ENSGT00760000118858 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118858 HGNC HGNC:6273 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6273 HOGENOM HOG000013106 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000013106&db=HOGENOM6 HOVERGEN HBG052234 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052234&db=HOVERGEN HPA HPA030462 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA030462 InParanoid P57789 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P57789 IntAct P57789 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P57789* InterPro IPR003280 http://www.ebi.ac.uk/interpro/entry/IPR003280 InterPro IPR003976 http://www.ebi.ac.uk/interpro/entry/IPR003976 InterPro IPR013099 http://www.ebi.ac.uk/interpro/entry/IPR013099 Jabion 54207 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=54207 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:54207 http://www.genome.jp/dbget-bin/www_bget?hsa:54207 KEGG_Orthology KO:K04920 http://www.genome.jp/dbget-bin/www_bget?KO:K04920 KEGG_Pathway ko04971 http://www.genome.jp/kegg-bin/show_pathway?ko04971 MIM 605873 http://www.ncbi.nlm.nih.gov/omim/605873 MINT MINT-4050532 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-4050532 OMA KQVNWDP http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=KQVNWDP OrthoDB EOG091G0E3R http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0E3R PDB 4BW5 http://www.ebi.ac.uk/pdbe-srv/view/entry/4BW5 PDB 4XDJ http://www.ebi.ac.uk/pdbe-srv/view/entry/4XDJ PDB 4XDK http://www.ebi.ac.uk/pdbe-srv/view/entry/4XDK PDB 4XDL http://www.ebi.ac.uk/pdbe-srv/view/entry/4XDL PDBsum 4BW5 http://www.ebi.ac.uk/pdbsum/4BW5 PDBsum 4XDJ http://www.ebi.ac.uk/pdbsum/4XDJ PDBsum 4XDK http://www.ebi.ac.uk/pdbsum/4XDK PDBsum 4XDL http://www.ebi.ac.uk/pdbsum/4XDL PRINTS PR01333 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01333 PRINTS PR01499 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01499 PSORT swissprot:KCNKA_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCNKA_HUMAN PSORT-B swissprot:KCNKA_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCNKA_HUMAN PSORT2 swissprot:KCNKA_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCNKA_HUMAN Pfam PF07885 http://pfam.xfam.org/family/PF07885 PharmGKB PA30053 http://www.pharmgkb.org/do/serve?objId=PA30053&objCls=Gene Phobius swissprot:KCNKA_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCNKA_HUMAN PhylomeDB P57789 http://phylomedb.org/?seqid=P57789 ProteinModelPortal P57789 http://www.proteinmodelportal.org/query/uniprot/P57789 PubMed 10880510 http://www.ncbi.nlm.nih.gov/pubmed/10880510 PubMed 11897838 http://www.ncbi.nlm.nih.gov/pubmed/11897838 PubMed 12508121 http://www.ncbi.nlm.nih.gov/pubmed/12508121 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 18516069 http://www.ncbi.nlm.nih.gov/pubmed/18516069 Reactome R-HSA-1299503 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1299503 Reactome R-HSA-5576886 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576886 RefSeq NP_066984 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_066984 RefSeq NP_612190 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_612190 RefSeq NP_612191 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_612191 SMR P57789 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P57789 STRING 9606.ENSP00000310568 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000310568&targetmode=cogs UCSC uc001xwm http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001xwm&org=rat UniGene Hs.560255 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.560255 UniProtKB KCNKA_HUMAN http://www.uniprot.org/uniprot/KCNKA_HUMAN UniProtKB-AC P57789 http://www.uniprot.org/uniprot/P57789 charge swissprot:KCNKA_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCNKA_HUMAN eggNOG COG1226 http://eggnogapi.embl.de/nog_data/html/tree/COG1226 eggNOG KOG1418 http://eggnogapi.embl.de/nog_data/html/tree/KOG1418 epestfind swissprot:KCNKA_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCNKA_HUMAN garnier swissprot:KCNKA_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCNKA_HUMAN helixturnhelix swissprot:KCNKA_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCNKA_HUMAN hmoment swissprot:KCNKA_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCNKA_HUMAN iep swissprot:KCNKA_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCNKA_HUMAN inforesidue swissprot:KCNKA_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCNKA_HUMAN neXtProt NX_P57789 http://www.nextprot.org/db/entry/NX_P57789 octanol swissprot:KCNKA_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCNKA_HUMAN pepcoil swissprot:KCNKA_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCNKA_HUMAN pepdigest swissprot:KCNKA_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCNKA_HUMAN pepinfo swissprot:KCNKA_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCNKA_HUMAN pepnet swissprot:KCNKA_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCNKA_HUMAN pepstats swissprot:KCNKA_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCNKA_HUMAN pepwheel swissprot:KCNKA_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCNKA_HUMAN pepwindow swissprot:KCNKA_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCNKA_HUMAN sigcleave swissprot:KCNKA_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCNKA_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS ABCG5_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9H222-1; Sequence=Displayed; Name=2; IsoId=Q9H222-2; Sequence=VSP_055770; Note=No experimental confirmation available.; # AltName ABCG5_HUMAN Sterolin-1 # BioGrid 122124 2 # CCDS CCDS1814 -. [Q9H222-1] # DISEASE ABCG5_HUMAN Sitosterolemia (STSL) [MIM 210250] Rare autosomal recessive disorder characterized by increased intestinal absorption of all sterols including cholesterol, plant and shellfish sterols, and decreased biliary excretion of dietary sterols into bile. Sitosterolemia patients have hypercholesterolemia, very high levels of plant sterols in the plasma, and frequently develop tendon and tuberous xanthomas, accelerated atherosclerosis and premature coronary artery disease. {ECO 0000269|PubMed 11138003, ECO 0000269|PubMed 11452359, ECO 0000269|PubMed 11668628}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DrugBank DB00973 Ezetimibe # Ensembl ENST00000260645 ENSP00000260645; ENSG00000138075. [Q9H222-1] # ExpressionAtlas Q9H222 baseline and differential # FUNCTION ABCG5_HUMAN Transporter that appears to play an indispensable role in the selective transport of the dietary cholesterol in and out of the enterocytes and in the selective sterol excretion by the liver into bile. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0016324 apical plasma membrane; IMP:BHF-UCL. # GO_component GO:0043190 ATP-binding cassette (ABC) transporter complex; IDA:BHF-UCL. # GO_component GO:0043235 receptor complex; IDA:BHF-UCL. # GO_function GO:0005524 ATP binding; IEA:UniProtKB-KW. # GO_function GO:0017127 cholesterol transporter activity; IEA:Ensembl. # GO_function GO:0042626 ATPase activity, coupled to transmembrane movement of substances; IBA:GO_Central. # GO_function GO:0046982 protein heterodimerization activity; IPI:BHF-UCL. # GO_process GO:0007584 response to nutrient; IEA:Ensembl. # GO_process GO:0007588 excretion; IGI:BHF-UCL. # GO_process GO:0010212 response to ionizing radiation; IEA:Ensembl. # GO_process GO:0010949 negative regulation of intestinal phytosterol absorption; IMP:BHF-UCL. # GO_process GO:0015918 sterol transport; TAS:Reactome. # GO_process GO:0030299 intestinal cholesterol absorption; IC:BHF-UCL. # GO_process GO:0033344 cholesterol efflux; IGI:BHF-UCL. # GO_process GO:0042493 response to drug; IEA:Ensembl. # GO_process GO:0042632 cholesterol homeostasis; IMP:BHF-UCL. # GO_process GO:0045796 negative regulation of intestinal cholesterol absorption; IMP:BHF-UCL. # GO_process GO:0055085 transmembrane transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 3.40.50.300 -; 1. # Genevisible Q9H222 HS # HGNC HGNC:13886 ABCG5 # INTERACTION ABCG5_HUMAN Q9H221 ABCG8; NbExp=2; IntAct=EBI-1761423, EBI-3908684; P16333 NCK1; NbExp=2; IntAct=EBI-1761423, EBI-389883; # IntAct Q9H222 5 # InterPro IPR003439 ABC_transporter-like # InterPro IPR003593 AAA+_ATPase # InterPro IPR013525 ABC_2_trans # InterPro IPR027417 P-loop_NTPase # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02000 Transporters # KEGG_Disease H00152 [Inherited metabolic disease; Cardiovascular disease] Sitosterolemia # KEGG_Pathway ko02010 ABC transporters # KEGG_Pathway ko04975 Fat digestion and absorption # KEGG_Pathway ko04976 Bile secretion # MIM 210250 phenotype # MIM 605459 gene # Organism ABCG5_HUMAN Homo sapiens (Human) # Orphanet 2882 Sitosterolemia # PDB 5DO7 X-ray; 3.93 A; A/C=1-651 # PROSITE PS50893 ABC_TRANSPORTER_2 # Pfam PF00005 ABC_tran # Pfam PF01061 ABC2_membrane # Proteomes UP000005640 Chromosome 2 # Reactome R-HSA-1369062 ABC transporters in lipid homeostasis # Reactome R-HSA-265473 Trafficking of dietary sterols # RecName ABCG5_HUMAN ATP-binding cassette sub-family G member 5 # RefSeq NP_071881 NM_022436.2. [Q9H222-1] # SIMILARITY Belongs to the ABC transporter superfamily. ABCG family. Eye pigment precursor importer (TC 3.A.1.204) subfamily. {ECO 0000305}. # SIMILARITY Contains 1 ABC transmembrane type-2 domain. {ECO 0000305}. # SIMILARITY Contains 1 ABC transporter domain. {ECO:0000255|PROSITE-ProRule PRU00434}. # SMART SM00382 AAA # SUBCELLULAR LOCATION ABCG5_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # SUBUNIT ABCG5_HUMAN May form heterodimers with ABCG8 or be tightly coupled to ABCG8 along a pathway regulating diatery-sterol absorption and excretion. # SUPFAM SSF52540 SSF52540 # TCDB 3.A.1.204 the atp-binding cassette (abc) superfamily # TISSUE SPECIFICITY ABCG5_HUMAN Strongly expressed in the liver, lower levels in the small intestine and colon. # UCSC uc002rtn human. [Q9H222-1] # WEB RESOURCE ABCG5_HUMAN Name=ABCMdb; Note=Database for mutations in ABC proteins; URL="http //abcmutations.hegelab.org/proteinDetails?uniprot_id=Q9H222"; # eggNOG COG1131 LUCA # eggNOG KOG0061 Eukaryota BLAST swissprot:ABCG5_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ABCG5_HUMAN BioCyc ZFISH:ENSG00000138075-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000138075-MONOMER COXPRESdb 64240 http://coxpresdb.jp/data/gene/64240.shtml CleanEx HS_ABCG5 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ABCG5 DIP DIP-42630N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-42630N DOI 10.1002/humu.1206 http://dx.doi.org/10.1002/humu.1206 DOI 10.1038/83799 http://dx.doi.org/10.1038/83799 DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1086/321294 http://dx.doi.org/10.1086/321294 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.290.5497.1771 http://dx.doi.org/10.1126/science.290.5497.1771 DrugBank DB00973 http://www.drugbank.ca/drugs/DB00973 EMBL AC011242 http://www.ebi.ac.uk/ena/data/view/AC011242 EMBL AC108476 http://www.ebi.ac.uk/ena/data/view/AC108476 EMBL AF312715 http://www.ebi.ac.uk/ena/data/view/AF312715 EMBL AF320293 http://www.ebi.ac.uk/ena/data/view/AF320293 EMBL AF404106 http://www.ebi.ac.uk/ena/data/view/AF404106 EMBL AF404107 http://www.ebi.ac.uk/ena/data/view/AF404107 EMBL BC111541 http://www.ebi.ac.uk/ena/data/view/BC111541 EMBL CH471053 http://www.ebi.ac.uk/ena/data/view/CH471053 Ensembl ENST00000260645 http://www.ensembl.org/id/ENST00000260645 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:0043190 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043190 GO_component GO:0043235 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043235 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0017127 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0017127 GO_function GO:0042626 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042626 GO_function GO:0046982 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046982 GO_process GO:0007584 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007584 GO_process GO:0007588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007588 GO_process GO:0010212 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010212 GO_process GO:0010949 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010949 GO_process GO:0015918 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015918 GO_process GO:0030299 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030299 GO_process GO:0033344 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033344 GO_process GO:0042493 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042493 GO_process GO:0042632 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042632 GO_process GO:0045796 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045796 GO_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 3.40.50.300 http://www.cathdb.info/version/latest/superfamily/3.40.50.300 GeneCards ABCG5 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ABCG5 GeneID 64240 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=64240 GeneTree ENSGT00740000114855 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00740000114855 HGNC HGNC:13886 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:13886 HOGENOM HOG000033763 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000033763&db=HOGENOM6 HOVERGEN HBG050443 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050443&db=HOVERGEN HPA HPA016514 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA016514 InParanoid Q9H222 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9H222 IntAct Q9H222 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9H222* InterPro IPR003439 http://www.ebi.ac.uk/interpro/entry/IPR003439 InterPro IPR003593 http://www.ebi.ac.uk/interpro/entry/IPR003593 InterPro IPR013525 http://www.ebi.ac.uk/interpro/entry/IPR013525 InterPro IPR027417 http://www.ebi.ac.uk/interpro/entry/IPR027417 Jabion 64240 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=64240 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Disease H00152 http://www.genome.jp/dbget-bin/www_bget?H00152 KEGG_Gene hsa:64240 http://www.genome.jp/dbget-bin/www_bget?hsa:64240 KEGG_Orthology KO:K05683 http://www.genome.jp/dbget-bin/www_bget?KO:K05683 KEGG_Pathway ko02010 http://www.genome.jp/kegg-bin/show_pathway?ko02010 KEGG_Pathway ko04975 http://www.genome.jp/kegg-bin/show_pathway?ko04975 KEGG_Pathway ko04976 http://www.genome.jp/kegg-bin/show_pathway?ko04976 MIM 210250 http://www.ncbi.nlm.nih.gov/omim/210250 MIM 605459 http://www.ncbi.nlm.nih.gov/omim/605459 MINT MINT-2840498 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-2840498 OMA ICHKTLE http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=ICHKTLE Orphanet 2882 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=2882 OrthoDB EOG091G0FOJ http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0FOJ PDB 5DO7 http://www.ebi.ac.uk/pdbe-srv/view/entry/5DO7 PDBsum 5DO7 http://www.ebi.ac.uk/pdbsum/5DO7 PROSITE PS50893 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50893 PSORT swissprot:ABCG5_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ABCG5_HUMAN PSORT-B swissprot:ABCG5_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ABCG5_HUMAN PSORT2 swissprot:ABCG5_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ABCG5_HUMAN Pfam PF00005 http://pfam.xfam.org/family/PF00005 Pfam PF01061 http://pfam.xfam.org/family/PF01061 PharmGKB PA24411 http://www.pharmgkb.org/do/serve?objId=PA24411&objCls=Gene Phobius swissprot:ABCG5_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ABCG5_HUMAN PhylomeDB Q9H222 http://phylomedb.org/?seqid=Q9H222 ProteinModelPortal Q9H222 http://www.proteinmodelportal.org/query/uniprot/Q9H222 PubMed 11099417 http://www.ncbi.nlm.nih.gov/pubmed/11099417 PubMed 11138003 http://www.ncbi.nlm.nih.gov/pubmed/11138003 PubMed 11452359 http://www.ncbi.nlm.nih.gov/pubmed/11452359 PubMed 11590207 http://www.ncbi.nlm.nih.gov/pubmed/11590207 PubMed 11668628 http://www.ncbi.nlm.nih.gov/pubmed/11668628 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 Reactome R-HSA-1369062 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1369062 Reactome R-HSA-265473 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-265473 RefSeq NP_071881 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_071881 SMART SM00382 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00382 SMR Q9H222 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9H222 STRING 9606.ENSP00000260645 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000260645&targetmode=cogs SUPFAM SSF52540 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52540 TCDB 3.A.1.204 http://www.tcdb.org/search/result.php?tc=3.A.1.204 UCSC uc002rtn http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002rtn&org=rat UniGene Hs.132992 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.132992 UniProtKB ABCG5_HUMAN http://www.uniprot.org/uniprot/ABCG5_HUMAN UniProtKB-AC Q9H222 http://www.uniprot.org/uniprot/Q9H222 charge swissprot:ABCG5_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ABCG5_HUMAN eggNOG COG1131 http://eggnogapi.embl.de/nog_data/html/tree/COG1131 eggNOG KOG0061 http://eggnogapi.embl.de/nog_data/html/tree/KOG0061 epestfind swissprot:ABCG5_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ABCG5_HUMAN garnier swissprot:ABCG5_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ABCG5_HUMAN helixturnhelix swissprot:ABCG5_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ABCG5_HUMAN hmoment swissprot:ABCG5_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ABCG5_HUMAN iep swissprot:ABCG5_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ABCG5_HUMAN inforesidue swissprot:ABCG5_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ABCG5_HUMAN neXtProt NX_Q9H222 http://www.nextprot.org/db/entry/NX_Q9H222 octanol swissprot:ABCG5_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ABCG5_HUMAN pepcoil swissprot:ABCG5_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ABCG5_HUMAN pepdigest swissprot:ABCG5_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ABCG5_HUMAN pepinfo swissprot:ABCG5_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ABCG5_HUMAN pepnet swissprot:ABCG5_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ABCG5_HUMAN pepstats swissprot:ABCG5_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ABCG5_HUMAN pepwheel swissprot:ABCG5_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ABCG5_HUMAN pepwindow swissprot:ABCG5_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ABCG5_HUMAN sigcleave swissprot:ABCG5_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ABCG5_HUMAN ## Database ID URL or Descriptions # AltName ABCBA_HUMAN ATP-binding cassette transporter 10 # AltName ABCBA_HUMAN Mitochondrial ATP-binding cassette 2 # BRENDA 3.6.3.43 2681 # BioGrid 117020 25 # Ensembl ENST00000344517 ENSP00000355637; ENSG00000135776 # FUNCTION ABCBA_HUMAN May mediate critical mitochondrial transport functions related to heme biosynthesis. {ECO 0000250}. # GO_component GO:0005743 mitochondrial inner membrane; IEA:UniProtKB-SubCell. # GO_component GO:0032592 integral component of mitochondrial membrane; IDA:UniProtKB. # GO_function GO:0005215 transporter activity; NAS:UniProtKB. # GO_function GO:0005524 ATP binding; IEA:UniProtKB-KW. # GO_function GO:0042626 ATPase activity, coupled to transmembrane movement of substances; IBA:GO_Central. # GO_process GO:0006810 transport; NAS:UniProtKB. # GO_process GO:0055085 transmembrane transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0055085 transmembrane transport # Gene3D 3.40.50.300 -; 1. # Genevisible Q9NRK6 HS # HGNC HGNC:41 ABCB10 # IntAct Q9NRK6 2 # InterPro IPR003439 ABC_transporter-like # InterPro IPR003593 AAA+_ATPase # InterPro IPR011527 ABC1_TM_dom # InterPro IPR017871 ABC_transporter_CS # InterPro IPR027417 P-loop_NTPase # InterPro IPR030260 ABCB10 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02000 Transporters # KEGG_Pathway ko02010 ABC transporters # MIM 605454 gene # Organism ABCBA_HUMAN Homo sapiens (Human) # PANTHER PTHR24221:SF121 PTHR24221:SF121 # PDB 3ZDQ X-ray; 2.85 A; A=152-738 # PDB 4AYT X-ray; 2.85 A; A=152-738 # PDB 4AYW X-ray; 3.30 A; A=1-738 # PDB 4AYX X-ray; 2.90 A; A=152-738 # PROSITE PS00211 ABC_TRANSPORTER_1 # PROSITE PS50893 ABC_TRANSPORTER_2 # PROSITE PS50929 ABC_TM1F # Pfam PF00005 ABC_tran # Pfam PF00664 ABC_membrane # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-1369007 Mitochondrial ABC transporters # RecName ABCBA_HUMAN ATP-binding cassette sub-family B member 10, mitochondrial # RefSeq NP_036221 NM_012089.2 # SIMILARITY Belongs to the ABC transporter superfamily. ABCB family. Mitochondrial peptide exporter (TC 3.A.1.212) subfamily. {ECO 0000305}. # SIMILARITY Contains 1 ABC transmembrane type-1 domain. {ECO:0000255|PROSITE-ProRule PRU00441}. # SIMILARITY Contains 1 ABC transporter domain. {ECO:0000255|PROSITE-ProRule PRU00434}. # SMART SM00382 AAA # SUBCELLULAR LOCATION ABCBA_HUMAN Mitochondrion inner membrane; Multi-pass membrane protein. # SUBUNIT Homodimer or homooligomer. {ECO:0000269|PubMed 23716676}. # SUPFAM SSF52540 SSF52540 # SUPFAM SSF90123 SSF90123 # TCDB 3.A.1.201.17 the atp-binding cassette (abc) superfamily # TISSUE SPECIFICITY ABCBA_HUMAN Ubiquitous. Highly expressed in bone marrow, expressed at intermediate to high levels in skeletal muscle, small intestine, thyroid, heart, brain, placenta, liver, pancreas, prostate, testis, ovary, leukocyte, stomach, spinal cord, lymph node, trachea and adrenal gland, and low levels are found in lung, kidney, spleen, thymus and colon. # UCSC uc001htp human # WEB RESOURCE ABCBA_HUMAN Name=ABCMdb; Note=Database for mutations in ABC proteins; URL="http //abcmutations.hegelab.org/proteinDetails?uniprot_id=Q9NRK6"; # eggNOG COG1132 LUCA # eggNOG KOG0058 Eukaryota BLAST swissprot:ABCBA_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ABCBA_HUMAN BioCyc ZFISH:ENSG00000135776-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000135776-MONOMER COXPRESdb 23456 http://coxpresdb.jp/data/gene/23456.shtml CleanEx HS_ABCB10 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ABCB10 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1007/BF00303254 http://dx.doi.org/10.1007/BF00303254 DOI 10.1007/s10038-002-8653-6 http://dx.doi.org/10.1007/s10038-002-8653-6 DOI 10.1016/S0014-5793(00)01823-8 http://dx.doi.org/10.1016/S0014-5793(00)01823-8 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1073/pnas.1217042110 http://dx.doi.org/10.1073/pnas.1217042110 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1133427 http://dx.doi.org/10.1126/science.1133427 DOI 10.1126/science.1175371 http://dx.doi.org/10.1126/science.1175371 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AB013380 http://www.ebi.ac.uk/ena/data/view/AB013380 EMBL AF216833 http://www.ebi.ac.uk/ena/data/view/AF216833 EMBL AL121990 http://www.ebi.ac.uk/ena/data/view/AL121990 EMBL BC064930 http://www.ebi.ac.uk/ena/data/view/BC064930 EMBL CH471098 http://www.ebi.ac.uk/ena/data/view/CH471098 EMBL U18237 http://www.ebi.ac.uk/ena/data/view/U18237 Ensembl ENST00000344517 http://www.ensembl.org/id/ENST00000344517 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0032592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032592 GO_function GO:0005215 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005215 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0042626 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042626 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 3.40.50.300 http://www.cathdb.info/version/latest/superfamily/3.40.50.300 GeneCards ABCB10 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ABCB10 GeneID 23456 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=23456 GeneTree ENSGT00550000074497 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074497 H-InvDB HIX0028493 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0028493 HGNC HGNC:41 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:41 HOVERGEN HBG008358 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG008358&db=HOVERGEN HPA CAB044063 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB044063 HPA CAB044065 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB044065 HPA HPA055175 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA055175 InParanoid Q9NRK6 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9NRK6 IntAct Q9NRK6 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9NRK6* InterPro IPR003439 http://www.ebi.ac.uk/interpro/entry/IPR003439 InterPro IPR003593 http://www.ebi.ac.uk/interpro/entry/IPR003593 InterPro IPR011527 http://www.ebi.ac.uk/interpro/entry/IPR011527 InterPro IPR017871 http://www.ebi.ac.uk/interpro/entry/IPR017871 InterPro IPR027417 http://www.ebi.ac.uk/interpro/entry/IPR027417 InterPro IPR030260 http://www.ebi.ac.uk/interpro/entry/IPR030260 Jabion 23456 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=23456 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Gene hsa:23456 http://www.genome.jp/dbget-bin/www_bget?hsa:23456 KEGG_Orthology KO:K05657 http://www.genome.jp/dbget-bin/www_bget?KO:K05657 KEGG_Pathway ko02010 http://www.genome.jp/kegg-bin/show_pathway?ko02010 MIM 605454 http://www.ncbi.nlm.nih.gov/omim/605454 OMA WAGDEAW http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=WAGDEAW OrthoDB EOG091G0HVA http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0HVA PANTHER PTHR24221:SF121 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24221:SF121 PDB 3ZDQ http://www.ebi.ac.uk/pdbe-srv/view/entry/3ZDQ PDB 4AYT http://www.ebi.ac.uk/pdbe-srv/view/entry/4AYT PDB 4AYW http://www.ebi.ac.uk/pdbe-srv/view/entry/4AYW PDB 4AYX http://www.ebi.ac.uk/pdbe-srv/view/entry/4AYX PDBsum 3ZDQ http://www.ebi.ac.uk/pdbsum/3ZDQ PDBsum 4AYT http://www.ebi.ac.uk/pdbsum/4AYT PDBsum 4AYW http://www.ebi.ac.uk/pdbsum/4AYW PDBsum 4AYX http://www.ebi.ac.uk/pdbsum/4AYX PROSITE PS00211 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00211 PROSITE PS50893 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50893 PROSITE PS50929 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50929 PSORT swissprot:ABCBA_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ABCBA_HUMAN PSORT-B swissprot:ABCBA_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ABCBA_HUMAN PSORT2 swissprot:ABCBA_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ABCBA_HUMAN Pfam PF00005 http://pfam.xfam.org/family/PF00005 Pfam PF00664 http://pfam.xfam.org/family/PF00664 PharmGKB PA24385 http://www.pharmgkb.org/do/serve?objId=PA24385&objCls=Gene Phobius swissprot:ABCBA_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ABCBA_HUMAN PhylomeDB Q9NRK6 http://phylomedb.org/?seqid=Q9NRK6 ProteinModelPortal Q9NRK6 http://www.proteinmodelportal.org/query/uniprot/Q9NRK6 PubMed 10922475 http://www.ncbi.nlm.nih.gov/pubmed/10922475 PubMed 11829140 http://www.ncbi.nlm.nih.gov/pubmed/11829140 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 16959974 http://www.ncbi.nlm.nih.gov/pubmed/16959974 PubMed 19608861 http://www.ncbi.nlm.nih.gov/pubmed/19608861 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 23716676 http://www.ncbi.nlm.nih.gov/pubmed/23716676 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 7766993 http://www.ncbi.nlm.nih.gov/pubmed/7766993 Reactome R-HSA-1369007 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1369007 RefSeq NP_036221 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_036221 SMART SM00382 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00382 SMR Q9NRK6 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9NRK6 STRING 9606.ENSP00000355637 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000355637&targetmode=cogs SUPFAM SSF52540 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52540 SUPFAM SSF90123 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF90123 TCDB 3.A.1.201.17 http://www.tcdb.org/search/result.php?tc=3.A.1.201.17 UCSC uc001htp http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001htp&org=rat UniGene Hs.17614 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.17614 UniProtKB ABCBA_HUMAN http://www.uniprot.org/uniprot/ABCBA_HUMAN UniProtKB-AC Q9NRK6 http://www.uniprot.org/uniprot/Q9NRK6 charge swissprot:ABCBA_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ABCBA_HUMAN eggNOG COG1132 http://eggnogapi.embl.de/nog_data/html/tree/COG1132 eggNOG KOG0058 http://eggnogapi.embl.de/nog_data/html/tree/KOG0058 epestfind swissprot:ABCBA_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ABCBA_HUMAN garnier swissprot:ABCBA_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ABCBA_HUMAN helixturnhelix swissprot:ABCBA_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ABCBA_HUMAN hmoment swissprot:ABCBA_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ABCBA_HUMAN iep swissprot:ABCBA_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ABCBA_HUMAN inforesidue swissprot:ABCBA_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ABCBA_HUMAN neXtProt NX_Q9NRK6 http://www.nextprot.org/db/entry/NX_Q9NRK6 octanol swissprot:ABCBA_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ABCBA_HUMAN pepcoil swissprot:ABCBA_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ABCBA_HUMAN pepdigest swissprot:ABCBA_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ABCBA_HUMAN pepinfo swissprot:ABCBA_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ABCBA_HUMAN pepnet swissprot:ABCBA_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ABCBA_HUMAN pepstats swissprot:ABCBA_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ABCBA_HUMAN pepwheel swissprot:ABCBA_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ABCBA_HUMAN pepwindow swissprot:ABCBA_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ABCBA_HUMAN sigcleave swissprot:ABCBA_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ABCBA_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS KCNN3_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9UGI6-1; Sequence=Displayed; Name=2; IsoId=Q9UGI6-2; Sequence=VSP_039461, VSP_039462; Name=3; Synonyms=SK3-1B; IsoId=Q9UGI6-3; Sequence=VSP_047641; Note=Do not produce functional channels, but selectively suppresses endogenous SK3 currents, in a dominant-negative fashion. This dominant inhibitory effect extends to other members of the SK subfamily. Widely distributed in human tissues and is present at 20-60% of SK3 in the brain.; # AltName KCNN3_HUMAN KCa2.3 # BioGrid 109983 5 # CCDS CCDS1072 -. [Q9UGI6-2] # ChiTaRS KCNN3 human # DrugBank DB00721 Procaine # DrugBank DB01110 Miconazole # Ensembl ENST00000358505 ENSP00000351295; ENSG00000143603. [Q9UGI6-3] # Ensembl ENST00000361147 ENSP00000354764; ENSG00000143603. [Q9UGI6-2] # ExpressionAtlas Q9UGI6 baseline and differential # FUNCTION KCNN3_HUMAN Forms a voltage-independent potassium channel activated by intracellular calcium. Activation is followed by membrane hyperpolarization. Thought to regulate neuronal excitability by contributing to the slow component of synaptic afterhyperpolarization. The channel is blocked by apamin. # GO_component GO:0005886 plasma membrane; IBA:GO_Central. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0043025 neuronal cell body; IBA:GO_Central. # GO_function GO:0005516 calmodulin binding; IBA:GO_Central. # GO_function GO:0016286 small conductance calcium-activated potassium channel activity; IBA:GO_Central. # GO_process GO:1903955 positive regulation of protein targeting to mitochondrion; IMP:ParkinsonsUK-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0008150 biological_process # Genevisible Q9UGI6 HS # HGNC HGNC:6292 KCNN3 # InterPro IPR004178 CaM-bd_dom # InterPro IPR013099 K_chnl_dom # InterPro IPR015449 K_chnl_Ca-activ_SK # KEGG_Brite ko04040 Ion channels # MIM 602983 gene # Organism KCNN3_HUMAN Homo sapiens (Human) # PANTHER PTHR10153 PTHR10153 # POLYMORPHISM The second poly-Gln region of KCNN3 is highly polymorphic and the number of Gln varies from 12 to 28 in the population. {ECO:0000269|PubMed 9491810}. # PRINTS PR01451 SKCHANNEL # Pfam PF02888 CaMBD # Pfam PF03530 SK_channel # Pfam PF07885 Ion_trans_2 # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-1296052 Ca2+ activated K+ channels # RecName KCNN3_HUMAN Small conductance calcium-activated potassium channel protein 3 # RefSeq NP_001191016 NM_001204087.1 # RefSeq NP_002240 NM_002249.5 # RefSeq NP_740752 NM_170782.2. [Q9UGI6-2] # SIMILARITY Belongs to the potassium channel KCNN family. KCa2.3/KCNN3 subfamily. {ECO 0000305}. # SMART SM01053 CaMBD # SUBCELLULAR LOCATION KCNN3_HUMAN Membrane; Multi-pass membrane protein. # SUBUNIT Heterooligomer. The complex is composed of 4 channel subunits each of which binds to a calmodulin subunit which regulates the channel activity through calcium-binding (By similarity). {ECO 0000250}. # SUPFAM SSF81327 SSF81327 # UCSC uc001ffo human. [Q9UGI6-1] # eggNOG ENOG410XT9D LUCA # eggNOG KOG3684 Eukaryota BLAST swissprot:KCNN3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCNN3_HUMAN BioCyc ZFISH:ENSG00000143603-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000143603-MONOMER COXPRESdb 3782 http://coxpresdb.jp/data/gene/3782.shtml CleanEx HS_KCNN3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNN3 DOI 10.1007/s100380170046 http://dx.doi.org/10.1007/s100380170046 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1038/sj.mp.4000353 http://dx.doi.org/10.1038/sj.mp.4000353 DOI 10.1038/sj.mp.4001271 http://dx.doi.org/10.1038/sj.mp.4001271 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DrugBank DB00721 http://www.drugbank.ca/drugs/DB00721 DrugBank DB01110 http://www.drugbank.ca/drugs/DB01110 EMBL AF031815 http://www.ebi.ac.uk/ena/data/view/AF031815 EMBL AF336797 http://www.ebi.ac.uk/ena/data/view/AF336797 EMBL AF438203 http://www.ebi.ac.uk/ena/data/view/AF438203 EMBL AJ251016 http://www.ebi.ac.uk/ena/data/view/AJ251016 EMBL AL390204 http://www.ebi.ac.uk/ena/data/view/AL390204 EMBL AL390204 http://www.ebi.ac.uk/ena/data/view/AL390204 EMBL AL390204 http://www.ebi.ac.uk/ena/data/view/AL390204 EMBL AL390204 http://www.ebi.ac.uk/ena/data/view/AL390204 EMBL AL390204 http://www.ebi.ac.uk/ena/data/view/AL390204 EMBL AL390204 http://www.ebi.ac.uk/ena/data/view/AL390204 EMBL AL606500 http://www.ebi.ac.uk/ena/data/view/AL606500 EMBL AL606500 http://www.ebi.ac.uk/ena/data/view/AL606500 EMBL AL606500 http://www.ebi.ac.uk/ena/data/view/AL606500 EMBL AL606500 http://www.ebi.ac.uk/ena/data/view/AL606500 EMBL AL606500 http://www.ebi.ac.uk/ena/data/view/AL606500 EMBL AL606500 http://www.ebi.ac.uk/ena/data/view/AL606500 EMBL AL954342 http://www.ebi.ac.uk/ena/data/view/AL954342 EMBL AL954342 http://www.ebi.ac.uk/ena/data/view/AL954342 EMBL AL954342 http://www.ebi.ac.uk/ena/data/view/AL954342 EMBL AL954342 http://www.ebi.ac.uk/ena/data/view/AL954342 EMBL AL954342 http://www.ebi.ac.uk/ena/data/view/AL954342 EMBL AL954342 http://www.ebi.ac.uk/ena/data/view/AL954342 EMBL AY138900 http://www.ebi.ac.uk/ena/data/view/AY138900 EMBL BC042147 http://www.ebi.ac.uk/ena/data/view/BC042147 EMBL CH471121 http://www.ebi.ac.uk/ena/data/view/CH471121 EMBL CH471121 http://www.ebi.ac.uk/ena/data/view/CH471121 Ensembl ENST00000358505 http://www.ensembl.org/id/ENST00000358505 Ensembl ENST00000361147 http://www.ensembl.org/id/ENST00000361147 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0043025 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043025 GO_function GO:0005516 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005516 GO_function GO:0016286 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016286 GO_process GO:1903955 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903955 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GeneCards KCNN3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNN3 GeneID 3782 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=3782 GeneTree ENSGT00500000044784 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00500000044784 H-InvDB HIX0023527 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0023527 HGNC HGNC:6292 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6292 HOGENOM HOG000276908 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000276908&db=HOGENOM6 HOVERGEN HBG052241 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052241&db=HOVERGEN HPA HPA017990 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA017990 HPA HPA057127 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA057127 InParanoid Q9UGI6 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9UGI6 InterPro IPR004178 http://www.ebi.ac.uk/interpro/entry/IPR004178 InterPro IPR013099 http://www.ebi.ac.uk/interpro/entry/IPR013099 InterPro IPR015449 http://www.ebi.ac.uk/interpro/entry/IPR015449 Jabion 3782 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=3782 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:3782 http://www.genome.jp/dbget-bin/www_bget?hsa:3782 KEGG_Orthology KO:K04944 http://www.genome.jp/dbget-bin/www_bget?KO:K04944 MIM 602983 http://www.ncbi.nlm.nih.gov/omim/602983 PANTHER PTHR10153 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10153 PRINTS PR01451 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01451 PSORT swissprot:KCNN3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCNN3_HUMAN PSORT-B swissprot:KCNN3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCNN3_HUMAN PSORT2 swissprot:KCNN3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCNN3_HUMAN Pfam PF02888 http://pfam.xfam.org/family/PF02888 Pfam PF03530 http://pfam.xfam.org/family/PF03530 Pfam PF07885 http://pfam.xfam.org/family/PF07885 PharmGKB PA30072 http://www.pharmgkb.org/do/serve?objId=PA30072&objCls=Gene Phobius swissprot:KCNN3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCNN3_HUMAN PhylomeDB Q9UGI6 http://phylomedb.org/?seqid=Q9UGI6 ProteinModelPortal Q9UGI6 http://www.proteinmodelportal.org/query/uniprot/Q9UGI6 PubMed 11501944 http://www.ncbi.nlm.nih.gov/pubmed/11501944 PubMed 12808432 http://www.ncbi.nlm.nih.gov/pubmed/12808432 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 9491810 http://www.ncbi.nlm.nih.gov/pubmed/9491810 Reactome R-HSA-1296052 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1296052 RefSeq NP_001191016 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001191016 RefSeq NP_002240 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_002240 RefSeq NP_740752 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_740752 SMART SM01053 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM01053 SMR Q9UGI6 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9UGI6 STRING 9606.ENSP00000271915 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000271915&targetmode=cogs SUPFAM SSF81327 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81327 UCSC uc001ffo http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001ffo&org=rat UniGene Hs.490765 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.490765 UniProtKB KCNN3_HUMAN http://www.uniprot.org/uniprot/KCNN3_HUMAN UniProtKB-AC Q9UGI6 http://www.uniprot.org/uniprot/Q9UGI6 charge swissprot:KCNN3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCNN3_HUMAN eggNOG ENOG410XT9D http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XT9D eggNOG KOG3684 http://eggnogapi.embl.de/nog_data/html/tree/KOG3684 epestfind swissprot:KCNN3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCNN3_HUMAN garnier swissprot:KCNN3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCNN3_HUMAN helixturnhelix swissprot:KCNN3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCNN3_HUMAN hmoment swissprot:KCNN3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCNN3_HUMAN iep swissprot:KCNN3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCNN3_HUMAN inforesidue swissprot:KCNN3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCNN3_HUMAN neXtProt NX_Q9UGI6 http://www.nextprot.org/db/entry/NX_Q9UGI6 octanol swissprot:KCNN3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCNN3_HUMAN pepcoil swissprot:KCNN3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCNN3_HUMAN pepdigest swissprot:KCNN3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCNN3_HUMAN pepinfo swissprot:KCNN3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCNN3_HUMAN pepnet swissprot:KCNN3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCNN3_HUMAN pepstats swissprot:KCNN3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCNN3_HUMAN pepwheel swissprot:KCNN3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCNN3_HUMAN pepwindow swissprot:KCNN3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCNN3_HUMAN sigcleave swissprot:KCNN3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCNN3_HUMAN ## Database ID URL or Descriptions # AltName QCR8_HUMAN Complex III subunit 8 # AltName QCR8_HUMAN Complex III subunit VIII # AltName QCR8_HUMAN Ubiquinol-cytochrome c reductase complex 9.5 kDa protein # AltName QCR8_HUMAN Ubiquinol-cytochrome c reductase complex ubiquinone-binding protein QP-C # BioGrid 117991 82 # ChiTaRS UQCRQ human # DISEASE QCR8_HUMAN Mitochondrial complex III deficiency, nuclear 4 (MC3DN4) [MIM 615159] A disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. Clinical features include mitochondrial encephalopathy, psychomotor retardation, ataxia, severe failure to thrive, liver dysfunction, renal tubulopathy, muscle weakness and exercise intolerance. {ECO 0000269|PubMed 18439546}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000378665 ENSP00000367934; ENSG00000164405 # Ensembl ENST00000378667 ENSP00000367936; ENSG00000164405 # Ensembl ENST00000378670 ENSP00000367939; ENSG00000164405 # FUNCTION QCR8_HUMAN This is a component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex), which is part of the mitochondrial respiratory chain. This subunit, together with cytochrome b, binds to ubiquinone. # GO_component GO:0005739 mitochondrion; IDA:HPA. # GO_component GO:0005743 mitochondrial inner membrane; TAS:Reactome. # GO_component GO:0005750 mitochondrial respiratory chain complex III; IBA:GO_Central. # GO_function GO:0008121 ubiquinol-cytochrome-c reductase activity; IEA:InterPro. # GO_process GO:0006122 mitochondrial electron transport, ubiquinol to cytochrome c; IBA:GO_Central. # GO_process GO:0021539 subthalamus development; IEA:Ensembl. # GO_process GO:0021548 pons development; IEA:Ensembl. # GO_process GO:0021680 cerebellar Purkinje cell layer development; IEA:Ensembl. # GO_process GO:0021766 hippocampus development; IEA:Ensembl. # GO_process GO:0021794 thalamus development; IEA:Ensembl. # GO_process GO:0021854 hypothalamus development; IEA:Ensembl. # GO_process GO:0021860 pyramidal neuron development; IEA:Ensembl. # GO_process GO:0030901 midbrain development; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005739 mitochondrion # GOslim_component GO:0043234 protein complex # GOslim_function GO:0016491 oxidoreductase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006091 generation of precursor metabolites and energy # GOslim_process GO:0048856 anatomical structure development # Gene3D 1.20.5.210 -; 1. # Genevisible O14949 HS # HGNC HGNC:29594 UQCRQ # IntAct O14949 14 # InterPro IPR004205 Cyt_bc1_su8 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Disease H00473 [Inherited metabolic disease; Mitochondrial disease] GRACILE Syndrome # KEGG_Pathway ko00190 Oxidative phosphorylation # KEGG_Pathway ko04260 Cardiac muscle contraction # KEGG_Pathway ko05010 Alzheimer's disease # KEGG_Pathway ko05012 Parkinson's disease # KEGG_Pathway ko05016 Huntington's disease # MIM 612080 gene # MIM 615159 phenotype # Organism QCR8_HUMAN Homo sapiens (Human) # Orphanet 1460 Isolated CoQ-cytochrome C reductase deficiency # PANTHER PTHR12119 PTHR12119 # Pfam PF02939 UcrQ # ProDom PD331499 UcrQ # Proteomes UP000005640 Chromosome 5 # Reactome R-HSA-611105 Respiratory electron transport # RecName QCR8_HUMAN Cytochrome b-c1 complex subunit 8 # RefSeq NP_055217 NM_014402.4 # SIMILARITY Belongs to the UQCRQ/QCR8 family. {ECO 0000305}. # SUBCELLULAR LOCATION QCR8_HUMAN Mitochondrion inner membrane. # SUBUNIT The bc1 complex contains 11 subunits 3 respiratory subunits (cytochrome b, cytochrome c1 and Rieske/UQCRFS1), 2 core proteins (UQCRC1/QCR1 and UQCRC2/QCR2) and 6 low-molecular weight proteins (UQCRH/QCR6, UQCRB/QCR7, UQCRQ/QCR8, UQCR10/QCR9, UQCR11/QCR10 and a cleavage product of Rieske/UQCRFS1). # SUPFAM SSF81508 SSF81508 # UCSC uc003kya human # eggNOG ENOG41123BH LUCA # eggNOG KOG4116 Eukaryota BLAST swissprot:QCR8_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:QCR8_HUMAN BioCyc ZFISH:HS09077-MONOMER http://biocyc.org/getid?id=ZFISH:HS09077-MONOMER COXPRESdb 27089 http://coxpresdb.jp/data/gene/27089.shtml CleanEx HS_UQCRQ http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_UQCRQ DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1016/0076-6879(95)60132-5 http://dx.doi.org/10.1016/0076-6879(95)60132-5 DOI 10.1016/j.ajhg.2008.03.020 http://dx.doi.org/10.1016/j.ajhg.2008.03.020 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL BC001390 http://www.ebi.ac.uk/ena/data/view/BC001390 EMBL BC090048 http://www.ebi.ac.uk/ena/data/view/BC090048 EMBL D50369 http://www.ebi.ac.uk/ena/data/view/D50369 Ensembl ENST00000378665 http://www.ensembl.org/id/ENST00000378665 Ensembl ENST00000378667 http://www.ensembl.org/id/ENST00000378667 Ensembl ENST00000378670 http://www.ensembl.org/id/ENST00000378670 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0005750 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005750 GO_function GO:0008121 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008121 GO_process GO:0006122 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006122 GO_process GO:0021539 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021539 GO_process GO:0021548 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021548 GO_process GO:0021680 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021680 GO_process GO:0021766 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021766 GO_process GO:0021794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021794 GO_process GO:0021854 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021854 GO_process GO:0021860 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021860 GO_process GO:0030901 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030901 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0016491 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016491 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006091 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 Gene3D 1.20.5.210 http://www.cathdb.info/version/latest/superfamily/1.20.5.210 GeneCards UQCRQ http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=UQCRQ GeneID 27089 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=27089 GeneTree ENSGT00390000004029 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000004029 HGNC HGNC:29594 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:29594 HOGENOM HOG000205681 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000205681&db=HOGENOM6 HOVERGEN HBG001468 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG001468&db=HOVERGEN HPA HPA046693 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA046693 HPA HPA053323 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA053323 InParanoid O14949 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O14949 IntAct O14949 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O14949* InterPro IPR004205 http://www.ebi.ac.uk/interpro/entry/IPR004205 Jabion 27089 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=27089 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00002 http://www.genome.jp/dbget-bin/www_bget?ko00002 KEGG_Disease H00473 http://www.genome.jp/dbget-bin/www_bget?H00473 KEGG_Gene hsa:27089 http://www.genome.jp/dbget-bin/www_bget?hsa:27089 KEGG_Orthology KO:K00418 http://www.genome.jp/dbget-bin/www_bget?KO:K00418 KEGG_Pathway ko00190 http://www.genome.jp/kegg-bin/show_pathway?ko00190 KEGG_Pathway ko04260 http://www.genome.jp/kegg-bin/show_pathway?ko04260 KEGG_Pathway ko05010 http://www.genome.jp/kegg-bin/show_pathway?ko05010 KEGG_Pathway ko05012 http://www.genome.jp/kegg-bin/show_pathway?ko05012 KEGG_Pathway ko05016 http://www.genome.jp/kegg-bin/show_pathway?ko05016 MIM 612080 http://www.ncbi.nlm.nih.gov/omim/612080 MIM 615159 http://www.ncbi.nlm.nih.gov/omim/615159 MINT MINT-1417930 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1417930 OMA ILNGAHF http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=ILNGAHF Orphanet 1460 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1460 OrthoDB EOG091G13Z0 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G13Z0 PANTHER PTHR12119 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12119 PSORT swissprot:QCR8_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:QCR8_HUMAN PSORT-B swissprot:QCR8_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:QCR8_HUMAN PSORT2 swissprot:QCR8_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:QCR8_HUMAN Pfam PF02939 http://pfam.xfam.org/family/PF02939 PharmGKB PA142670637 http://www.pharmgkb.org/do/serve?objId=PA142670637&objCls=Gene Phobius swissprot:QCR8_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:QCR8_HUMAN PhylomeDB O14949 http://phylomedb.org/?seqid=O14949 ProteinModelPortal O14949 http://www.proteinmodelportal.org/query/uniprot/O14949 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 18439546 http://www.ncbi.nlm.nih.gov/pubmed/18439546 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 8592474 http://www.ncbi.nlm.nih.gov/pubmed/8592474 Reactome R-HSA-611105 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-611105 RefSeq NP_055217 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_055217 SMR O14949 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=O14949 STRING 9606.ENSP00000367934 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000367934&targetmode=cogs SUPFAM SSF81508 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81508 UCSC uc003kya http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003kya&org=rat UniGene Hs.146602 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.146602 UniProtKB QCR8_HUMAN http://www.uniprot.org/uniprot/QCR8_HUMAN UniProtKB-AC O14949 http://www.uniprot.org/uniprot/O14949 charge swissprot:QCR8_HUMAN http://rest.g-language.org/emboss/charge/swissprot:QCR8_HUMAN eggNOG ENOG41123BH http://eggnogapi.embl.de/nog_data/html/tree/ENOG41123BH eggNOG KOG4116 http://eggnogapi.embl.de/nog_data/html/tree/KOG4116 epestfind swissprot:QCR8_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:QCR8_HUMAN garnier swissprot:QCR8_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:QCR8_HUMAN helixturnhelix swissprot:QCR8_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:QCR8_HUMAN hmoment swissprot:QCR8_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:QCR8_HUMAN iep swissprot:QCR8_HUMAN http://rest.g-language.org/emboss/iep/swissprot:QCR8_HUMAN inforesidue swissprot:QCR8_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:QCR8_HUMAN neXtProt NX_O14949 http://www.nextprot.org/db/entry/NX_O14949 octanol swissprot:QCR8_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:QCR8_HUMAN pepcoil swissprot:QCR8_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:QCR8_HUMAN pepdigest swissprot:QCR8_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:QCR8_HUMAN pepinfo swissprot:QCR8_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:QCR8_HUMAN pepnet swissprot:QCR8_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:QCR8_HUMAN pepstats swissprot:QCR8_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:QCR8_HUMAN pepwheel swissprot:QCR8_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:QCR8_HUMAN pepwindow swissprot:QCR8_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:QCR8_HUMAN sigcleave swissprot:QCR8_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:QCR8_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS AQP7_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O14520-1; Sequence=Displayed; Name=2; IsoId=O14520-2; Sequence=VSP_056249, VSP_056250; # AltName AQP7_HUMAN Aquaglyceroporin-7 # AltName AQP7_HUMAN Aquaporin adipose # AltName AQP7_HUMAN Aquaporin-7-like # CCDS CCDS6541 -. [O14520-1] # CDD cd00333 MIP # DOMAIN AQP7_HUMAN Aquaporins contain two tandem repeats each containing three membrane-spanning domains and a pore-forming loop with the signature motif Asn-Pro/Ala-Ala/Ser (NPA). # Ensembl ENST00000297988 ENSP00000297988; ENSG00000165269. [O14520-1] # Ensembl ENST00000447660 ENSP00000412868; ENSG00000165269. [O14520-2] # ExpressionAtlas O14520 baseline and differential # FUNCTION AQP7_HUMAN Forms a channel for water and glycerol. # GO_component GO:0005737 cytoplasm; IDA:UniProtKB. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0005911 cell-cell junction; IDA:UniProtKB. # GO_function GO:0015204 urea transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015250 water channel activity; EXP:Reactome. # GO_function GO:0015254 glycerol channel activity; EXP:Reactome. # GO_process GO:0006091 generation of precursor metabolites and energy; TAS:ProtInc. # GO_process GO:0006833 water transport; TAS:Reactome. # GO_process GO:0007588 excretion; TAS:ProtInc. # GO_process GO:0009992 cellular water homeostasis; IBA:GO_Central. # GO_process GO:0015793 glycerol transport; TAS:Reactome. # GO_process GO:0034220 ion transmembrane transport; IBA:GO_Central. # GO_process GO:0071918 urea transmembrane transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006091 generation of precursor metabolites and energy # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.20.1080.10 -; 1. # Genevisible O14520 HS # HGNC HGNC:640 AQP7 # InterPro IPR000425 MIP # InterPro IPR015686 Aquaporin_7 # InterPro IPR023271 Aquaporin-like # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko03320 PPAR signaling pathway # MIM 602974 gene # MIM 614411 phenotype # Organism AQP7_HUMAN Homo sapiens (Human) # PANTHER PTHR19139 PTHR19139 # PANTHER PTHR19139:SF16 PTHR19139:SF16 # PIR JC5791 JC5791 # POLYMORPHISM Genetic variations in AQP7 are responsible for changes in glycerol release during exercise and define the glycerol quantitative trait locus (GLYCQTL) [MIM 614411]. # PRINTS PR00783 MINTRINSICP # Pfam PF00230 MIP # Proteomes UP000005640 Chromosome 9 # Reactome R-HSA-432030 Transport of glycerol from adipocytes to the liver by Aquaporins # Reactome R-HSA-432047 Passive transport by Aquaporins # RecName AQP7_HUMAN Aquaporin-7 # RefSeq NP_001161 NM_001170.2. [O14520-1] # RefSeq NP_001305086 NM_001318157.1 # RefSeq NP_001305087 NM_001318158.1 # RefSeq XP_005251510 XM_005251453.3. [O14520-1] # RefSeq XP_011516168 XM_011517866.2. [O14520-1] # SIMILARITY Belongs to the MIP/aquaporin (TC 1.A.8) family. {ECO 0000305}. # SUBCELLULAR LOCATION AQP7_HUMAN Membrane; Multi-pass membrane protein. # SUPFAM SSF81338 SSF81338 # TCDB 1.A.8.9 the major intrinsic protein (mip) family # TIGRFAMs TIGR00861 MIP # UCSC uc003zst human. [O14520-1] # eggNOG COG0580 LUCA # eggNOG KOG0224 Eukaryota BLAST swissprot:AQP7_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:AQP7_HUMAN BioCyc ZFISH:ENSG00000165269-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000165269-MONOMER COXPRESdb 364 http://coxpresdb.jp/data/gene/364.shtml CleanEx HS_AQP7 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_AQP7 CleanEx HS_AQP9 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_AQP9 DOI 10.1006/bbrc.1997.7769 http://dx.doi.org/10.1006/bbrc.1997.7769 DOI 10.1038/nature02465 http://dx.doi.org/10.1038/nature02465 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1046/j.1432-1033.2002.02821.x http://dx.doi.org/10.1046/j.1432-1033.2002.02821.x DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1210/jc.2007-0531 http://dx.doi.org/10.1210/jc.2007-0531 EMBL AB006190 http://www.ebi.ac.uk/ena/data/view/AB006190 EMBL AB052626 http://www.ebi.ac.uk/ena/data/view/AB052626 EMBL AK300716 http://www.ebi.ac.uk/ena/data/view/AK300716 EMBL AK315879 http://www.ebi.ac.uk/ena/data/view/AK315879 EMBL AL356218 http://www.ebi.ac.uk/ena/data/view/AL356218 EMBL BC119672 http://www.ebi.ac.uk/ena/data/view/BC119672 EMBL BC119673 http://www.ebi.ac.uk/ena/data/view/BC119673 Ensembl ENST00000297988 http://www.ensembl.org/id/ENST00000297988 Ensembl ENST00000447660 http://www.ensembl.org/id/ENST00000447660 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0005911 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005911 GO_function GO:0015204 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015204 GO_function GO:0015250 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015250 GO_function GO:0015254 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015254 GO_process GO:0006091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006091 GO_process GO:0006833 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006833 GO_process GO:0007588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007588 GO_process GO:0009992 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009992 GO_process GO:0015793 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015793 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0071918 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071918 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006091 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.20.1080.10 http://www.cathdb.info/version/latest/superfamily/1.20.1080.10 GeneCards AQP7 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=AQP7 GeneID 364 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=364 GeneTree ENSGT00510000046311 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00510000046311 H-InvDB HIX0008072 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0008072 H-InvDB HIX0034850 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0034850 H-InvDB HIX0034865 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0034865 HGNC HGNC:640 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:640 HOVERGEN HBG106057 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG106057&db=HOVERGEN InParanoid O14520 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O14520 InterPro IPR000425 http://www.ebi.ac.uk/interpro/entry/IPR000425 InterPro IPR015686 http://www.ebi.ac.uk/interpro/entry/IPR015686 InterPro IPR023271 http://www.ebi.ac.uk/interpro/entry/IPR023271 Jabion 364 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=364 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:364 http://www.genome.jp/dbget-bin/www_bget?hsa:364 KEGG_Orthology KO:K08771 http://www.genome.jp/dbget-bin/www_bget?KO:K08771 KEGG_Pathway ko03320 http://www.genome.jp/kegg-bin/show_pathway?ko03320 MIM 602974 http://www.ncbi.nlm.nih.gov/omim/602974 MIM 614411 http://www.ncbi.nlm.nih.gov/omim/614411 OMA YLGAIIY http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=YLGAIIY OrthoDB EOG091G0FMS http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0FMS PANTHER PTHR19139 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR19139 PANTHER PTHR19139:SF16 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR19139:SF16 PRINTS PR00783 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00783 PSORT swissprot:AQP7_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:AQP7_HUMAN PSORT-B swissprot:AQP7_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:AQP7_HUMAN PSORT2 swissprot:AQP7_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:AQP7_HUMAN Pfam PF00230 http://pfam.xfam.org/family/PF00230 PharmGKB PA24925 http://www.pharmgkb.org/do/serve?objId=PA24925&objCls=Gene Phobius swissprot:AQP7_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:AQP7_HUMAN PhylomeDB O14520 http://phylomedb.org/?seqid=O14520 ProteinModelPortal O14520 http://www.proteinmodelportal.org/query/uniprot/O14520 PubMed 11952783 http://www.ncbi.nlm.nih.gov/pubmed/11952783 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15164053 http://www.ncbi.nlm.nih.gov/pubmed/15164053 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 17566090 http://www.ncbi.nlm.nih.gov/pubmed/17566090 PubMed 9405233 http://www.ncbi.nlm.nih.gov/pubmed/9405233 Reactome R-HSA-432030 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-432030 Reactome R-HSA-432047 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-432047 RefSeq NP_001161 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001161 RefSeq NP_001305086 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001305086 RefSeq NP_001305087 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001305087 RefSeq XP_005251510 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005251510 RefSeq XP_011516168 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011516168 STRING 9606.ENSP00000297988 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000297988&targetmode=cogs SUPFAM SSF81338 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81338 TCDB 1.A.8.9 http://www.tcdb.org/search/result.php?tc=1.A.8.9 TIGRFAMs TIGR00861 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00861 UCSC uc003zst http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003zst&org=rat UniGene Hs.455323 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.455323 UniProtKB AQP7_HUMAN http://www.uniprot.org/uniprot/AQP7_HUMAN UniProtKB-AC O14520 http://www.uniprot.org/uniprot/O14520 charge swissprot:AQP7_HUMAN http://rest.g-language.org/emboss/charge/swissprot:AQP7_HUMAN eggNOG COG0580 http://eggnogapi.embl.de/nog_data/html/tree/COG0580 eggNOG KOG0224 http://eggnogapi.embl.de/nog_data/html/tree/KOG0224 epestfind swissprot:AQP7_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:AQP7_HUMAN garnier swissprot:AQP7_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:AQP7_HUMAN helixturnhelix swissprot:AQP7_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:AQP7_HUMAN hmoment swissprot:AQP7_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:AQP7_HUMAN iep swissprot:AQP7_HUMAN http://rest.g-language.org/emboss/iep/swissprot:AQP7_HUMAN inforesidue swissprot:AQP7_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:AQP7_HUMAN neXtProt NX_O14520 http://www.nextprot.org/db/entry/NX_O14520 octanol swissprot:AQP7_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:AQP7_HUMAN pepcoil swissprot:AQP7_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:AQP7_HUMAN pepdigest swissprot:AQP7_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:AQP7_HUMAN pepinfo swissprot:AQP7_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:AQP7_HUMAN pepnet swissprot:AQP7_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:AQP7_HUMAN pepstats swissprot:AQP7_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:AQP7_HUMAN pepwheel swissprot:AQP7_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:AQP7_HUMAN pepwindow swissprot:AQP7_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:AQP7_HUMAN sigcleave swissprot:AQP7_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:AQP7_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS RHCE_HUMAN Event=Alternative splicing; Named isoforms=14; Name=RHI; IsoId=P18577-1; Sequence=Displayed; Name=RHIV; Synonyms=1e; IsoId=P18577-2; Sequence=VSP_005703, VSP_005704; Name=RHVI; Synonyms=7c; IsoId=P18577-3; Sequence=VSP_005702, VSP_005705; Name=RHVIII; IsoId=P18577-4; Sequence=VSP_005701; Name=1c; IsoId=P18577-5; Sequence=VSP_005705; Name=1d; IsoId=P18577-6; Sequence=VSP_037514; Name=1h; IsoId=P18577-7; Sequence=VSP_037513; Name=2e; IsoId=P18577-8; Sequence=VSP_037510, VSP_037512; Name=4g; Synonyms=RhPI-Beta; IsoId=P18577-9; Sequence=VSP_037509; Name=7a; IsoId=P18577-10; Sequence=VSP_005702; Name=8a; IsoId=P18577-11; Sequence=VSP_037506, VSP_037511; Name=8e; IsoId=P18577-12; Sequence=VSP_037507, VSP_037508; Name=8h; IsoId=P18577-13; Sequence=VSP_037505; Name=RhPI-Alpha; IsoId=P18577-14; Sequence=VSP_038405, VSP_038406; # AltName RHCE_HUMAN CD240CE # AltName RHCE_HUMAN Rh polypeptide 1 # AltName RHCE_HUMAN Rh30A # AltName RHCE_HUMAN RhIXB # AltName RHCE_HUMAN Rhesus C/E antigens # CCDS CCDS30634 -. [P18577-4] # CCDS CCDS30635 -. [P18577-1] # CCDS CCDS30636 -. [P18577-3] # CCDS CCDS30637 -. [P18577-2] # CCDS CCDS81283 -. [P18577-5] # Ensembl ENST00000294413 ENSP00000294413; ENSG00000188672 # ExpressionAtlas P18577 baseline and differential # FUNCTION RHCE_HUMAN May be part of an oligomeric complex which is likely to have a transport or channel function in the erythrocyte membrane. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_function GO:0008519 ammonium transmembrane transporter activity; IBA:GO_Central. # GO_process GO:0015695 organic cation transport; IBA:GO_Central. # GO_process GO:0019740 nitrogen utilization; IBA:GO_Central. # GO_process GO:0072488 ammonium transmembrane transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.10.3430.10 -; 1. # Genevisible P18577 HS # HGNC HGNC:10008 RHCE # InterPro IPR001905 Ammonium_transpt # InterPro IPR002229 RhesusRHD # InterPro IPR024041 NH4_transpt_AmtB-like_dom # InterPro IPR029020 Ammonium/urea_transptr # KEGG_Brite ko02000 Transporters # KEGG_Brite ko04090 Cellular antigens # MIM 111690 phenotype # MIM 111700 gene+phenotype # Organism RHCE_HUMAN Homo sapiens (Human) # Orphanet 71275 Rh deficiency syndrome # PANTHER PTHR11730 PTHR11730 # PIR A30405 A30405 # PIR I54193 I54193 # PIR PC2032 PC2032 # PIR PC2033 PC2033 # PIR S78478 S78478 # PIR S78479 S78479 # PIR S78480 S78480 # POLYMORPHISM RHCE_HUMAN RhCE and RhD are responsible for the RH blood group system. The molecular basis of the E=Rh3/e=Rh5 blood group antigens is a single variation in position 226; Pro-226 corresponds to Rh3 and Ala-226 to Rh5. The molecular basis of the C=Rh2/c=Rh4 blood group antigens is a single variation in position 102; Ser-103 corresponds to Rh2 and Pro-103 to Rh4. # PRINTS PR00342 RHESUSRHD # Pfam PF00909 Ammonium_transp # Proteomes UP000005640 Chromosome 1 # RecName RHCE_HUMAN Blood group Rh(CE) polypeptide # RefSeq NP_001317359 NM_001330430.1 # RefSeq NP_065231 NM_020485.4 # RefSeq NP_619522 NM_138616.3. [P18577-4] # RefSeq NP_619523 NM_138617.3. [P18577-3] # RefSeq NP_619524 NM_138618.3 # SIMILARITY Belongs to the ammonium transporter (TC 2.A.49) family. Rh subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION RHCE_HUMAN Membrane; Multi-pass membrane protein. # SUPFAM SSF111352 SSF111352 # TCDB 1.A.11.4 the ammonium transporter channel (amt) family # TISSUE SPECIFICITY Restricted to tissues or cell lines expressing erythroid characters. Isoform 4g and isoform RhPI-Alpha are expressed in immature erythroblasts but not in mature erythroblasts. {ECO:0000269|PubMed 8117271}. # UCSC uc001bkf human. [P18577-1] # WEB RESOURCE RHCE_HUMAN Name=dbRBC/BGMUT; Note=Blood group antigen gene mutation database; URL="https //www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/systems_info&system=rh"; # eggNOG ENOG410XTF8 LUCA # eggNOG KOG3796 Eukaryota BLAST swissprot:RHCE_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:RHCE_HUMAN COXPRESdb 6006 http://coxpresdb.jp/data/gene/6006.shtml CleanEx HS_RHCE http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_RHCE DOI 10.1006/bbrc.1994.1161 http://dx.doi.org/10.1006/bbrc.1994.1161 DOI 10.1006/geno.1994.1014 http://dx.doi.org/10.1006/geno.1994.1014 DOI 10.1007/BF00209483 http://dx.doi.org/10.1007/BF00209483 DOI 10.1007/BF00222717 http://dx.doi.org/10.1007/BF00222717 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1038/ng0993-62 http://dx.doi.org/10.1038/ng0993-62 DOI 10.1042/bj2561043 http://dx.doi.org/10.1042/bj2561043 DOI 10.1042/bj2710821 http://dx.doi.org/10.1042/bj2710821 DOI 10.1046/j.1365-2141.2001.02803.x http://dx.doi.org/10.1046/j.1365-2141.2001.02803.x DOI 10.1046/j.1537-2995.2001.41111408.x http://dx.doi.org/10.1046/j.1537-2995.2001.41111408.x DOI 10.1073/pnas.87.16.6243 http://dx.doi.org/10.1073/pnas.87.16.6243 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1182/blood-2001-12-0153 http://dx.doi.org/10.1182/blood-2001-12-0153 DOI 10.1182/blood-2002-01-0229 http://dx.doi.org/10.1182/blood-2002-01-0229 EMBL AB018644 http://www.ebi.ac.uk/ena/data/view/AB018644 EMBL AB018645 http://www.ebi.ac.uk/ena/data/view/AB018645 EMBL AB030388 http://www.ebi.ac.uk/ena/data/view/AB030388 EMBL AB049753 http://www.ebi.ac.uk/ena/data/view/AB049753 EMBL AF510065 http://www.ebi.ac.uk/ena/data/view/AF510065 EMBL AF510066 http://www.ebi.ac.uk/ena/data/view/AF510066 EMBL AF510067 http://www.ebi.ac.uk/ena/data/view/AF510067 EMBL AF510068 http://www.ebi.ac.uk/ena/data/view/AF510068 EMBL AL031284 http://www.ebi.ac.uk/ena/data/view/AL031284 EMBL AL031284 http://www.ebi.ac.uk/ena/data/view/AL031284 EMBL AL928711 http://www.ebi.ac.uk/ena/data/view/AL928711 EMBL AL928711 http://www.ebi.ac.uk/ena/data/view/AL928711 EMBL AM398146 http://www.ebi.ac.uk/ena/data/view/AM398146 EMBL AY603478 http://www.ebi.ac.uk/ena/data/view/AY603478 EMBL BC075081 http://www.ebi.ac.uk/ena/data/view/BC075081 EMBL BC139905 http://www.ebi.ac.uk/ena/data/view/BC139905 EMBL BN000065 http://www.ebi.ac.uk/ena/data/view/BN000065 EMBL DQ178642 http://www.ebi.ac.uk/ena/data/view/DQ178642 EMBL DQ266353 http://www.ebi.ac.uk/ena/data/view/DQ266353 EMBL DQ266400 http://www.ebi.ac.uk/ena/data/view/DQ266400 EMBL DQ322275 http://www.ebi.ac.uk/ena/data/view/DQ322275 EMBL FJ486155 http://www.ebi.ac.uk/ena/data/view/FJ486155 EMBL FJ486156 http://www.ebi.ac.uk/ena/data/view/FJ486156 EMBL FJ486157 http://www.ebi.ac.uk/ena/data/view/FJ486157 EMBL FJ486158 http://www.ebi.ac.uk/ena/data/view/FJ486158 EMBL FJ486159 http://www.ebi.ac.uk/ena/data/view/FJ486159 EMBL FJ486160 http://www.ebi.ac.uk/ena/data/view/FJ486160 EMBL FJ486161 http://www.ebi.ac.uk/ena/data/view/FJ486161 EMBL FJ486162 http://www.ebi.ac.uk/ena/data/view/FJ486162 EMBL FJ486163 http://www.ebi.ac.uk/ena/data/view/FJ486163 EMBL FJ486164 http://www.ebi.ac.uk/ena/data/view/FJ486164 EMBL FJ486165 http://www.ebi.ac.uk/ena/data/view/FJ486165 EMBL M34015 http://www.ebi.ac.uk/ena/data/view/M34015 EMBL S57967 http://www.ebi.ac.uk/ena/data/view/S57967 EMBL S70456 http://www.ebi.ac.uk/ena/data/view/S70456 EMBL X54534 http://www.ebi.ac.uk/ena/data/view/X54534 EMBL X63095 http://www.ebi.ac.uk/ena/data/view/X63095 EMBL X63096 http://www.ebi.ac.uk/ena/data/view/X63096 EMBL X63098 http://www.ebi.ac.uk/ena/data/view/X63098 Ensembl ENST00000294413 http://www.ensembl.org/id/ENST00000294413 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0008519 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008519 GO_process GO:0015695 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015695 GO_process GO:0019740 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019740 GO_process GO:0072488 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0072488 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.10.3430.10 http://www.cathdb.info/version/latest/superfamily/1.10.3430.10 GeneCards RHCE http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=RHCE GeneID 6006 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6006 H-InvDB HIX0023511 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0023511 HGNC HGNC:10008 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10008 HOVERGEN HBG004374 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG004374&db=HOVERGEN InParanoid P18577 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P18577 InterPro IPR001905 http://www.ebi.ac.uk/interpro/entry/IPR001905 InterPro IPR002229 http://www.ebi.ac.uk/interpro/entry/IPR002229 InterPro IPR024041 http://www.ebi.ac.uk/interpro/entry/IPR024041 InterPro IPR029020 http://www.ebi.ac.uk/interpro/entry/IPR029020 Jabion 6006 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6006 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Brite ko04090 http://www.genome.jp/dbget-bin/www_bget?ko04090 KEGG_Gene hsa:6006 http://www.genome.jp/dbget-bin/www_bget?hsa:6006 KEGG_Orthology KO:K06579 http://www.genome.jp/dbget-bin/www_bget?KO:K06579 MIM 111690 http://www.ncbi.nlm.nih.gov/omim/111690 MIM 111700 http://www.ncbi.nlm.nih.gov/omim/111700 Orphanet 71275 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=71275 OrthoDB EOG091G06KX http://cegg.unige.ch/orthodb/results?searchtext=EOG091G06KX PANTHER PTHR11730 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11730 PRINTS PR00342 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00342 PSORT swissprot:RHCE_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:RHCE_HUMAN PSORT-B swissprot:RHCE_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:RHCE_HUMAN PSORT2 swissprot:RHCE_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:RHCE_HUMAN Pfam PF00909 http://pfam.xfam.org/family/PF00909 PharmGKB PA34386 http://www.pharmgkb.org/do/serve?objId=PA34386&objCls=Gene Phobius swissprot:RHCE_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:RHCE_HUMAN PhylomeDB P18577 http://phylomedb.org/?seqid=P18577 ProteinModelPortal P18577 http://www.proteinmodelportal.org/query/uniprot/P18577 PubMed 11380456 http://www.ncbi.nlm.nih.gov/pubmed/11380456 PubMed 11724987 http://www.ncbi.nlm.nih.gov/pubmed/11724987 PubMed 11902138 http://www.ncbi.nlm.nih.gov/pubmed/11902138 PubMed 12393640 http://www.ncbi.nlm.nih.gov/pubmed/12393640 PubMed 1379850 http://www.ncbi.nlm.nih.gov/pubmed/1379850 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 1696722 http://www.ncbi.nlm.nih.gov/pubmed/1696722 PubMed 1898705 http://www.ncbi.nlm.nih.gov/pubmed/1898705 PubMed 2123099 http://www.ncbi.nlm.nih.gov/pubmed/2123099 PubMed 3135863 http://www.ncbi.nlm.nih.gov/pubmed/3135863 PubMed 3146980 http://www.ncbi.nlm.nih.gov/pubmed/3146980 PubMed 7789951 http://www.ncbi.nlm.nih.gov/pubmed/7789951 PubMed 7916743 http://www.ncbi.nlm.nih.gov/pubmed/7916743 PubMed 8117271 http://www.ncbi.nlm.nih.gov/pubmed/8117271 PubMed 8188244 http://www.ncbi.nlm.nih.gov/pubmed/8188244 PubMed 8220426 http://www.ncbi.nlm.nih.gov/pubmed/8220426 RefSeq NP_001317359 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001317359 RefSeq NP_065231 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_065231 RefSeq NP_619522 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_619522 RefSeq NP_619523 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_619523 RefSeq NP_619524 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_619524 STRING 9606.ENSP00000294413 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000294413&targetmode=cogs SUPFAM SSF111352 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF111352 TCDB 1.A.11.4 http://www.tcdb.org/search/result.php?tc=1.A.11.4 UCSC uc001bkf http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001bkf&org=rat UniGene Hs.449968 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.449968 UniGene Hs.523054 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.523054 UniProtKB RHCE_HUMAN http://www.uniprot.org/uniprot/RHCE_HUMAN UniProtKB-AC P18577 http://www.uniprot.org/uniprot/P18577 charge swissprot:RHCE_HUMAN http://rest.g-language.org/emboss/charge/swissprot:RHCE_HUMAN eggNOG ENOG410XTF8 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XTF8 eggNOG KOG3796 http://eggnogapi.embl.de/nog_data/html/tree/KOG3796 epestfind swissprot:RHCE_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:RHCE_HUMAN garnier swissprot:RHCE_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:RHCE_HUMAN helixturnhelix swissprot:RHCE_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:RHCE_HUMAN hmoment swissprot:RHCE_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:RHCE_HUMAN iep swissprot:RHCE_HUMAN http://rest.g-language.org/emboss/iep/swissprot:RHCE_HUMAN inforesidue swissprot:RHCE_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:RHCE_HUMAN neXtProt NX_P18577 http://www.nextprot.org/db/entry/NX_P18577 octanol swissprot:RHCE_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:RHCE_HUMAN pepcoil swissprot:RHCE_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:RHCE_HUMAN pepdigest swissprot:RHCE_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:RHCE_HUMAN pepinfo swissprot:RHCE_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:RHCE_HUMAN pepnet swissprot:RHCE_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:RHCE_HUMAN pepstats swissprot:RHCE_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:RHCE_HUMAN pepwheel swissprot:RHCE_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:RHCE_HUMAN pepwindow swissprot:RHCE_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:RHCE_HUMAN sigcleave swissprot:RHCE_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:RHCE_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S39A2_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NP94-1; Sequence=Displayed; Name=2; IsoId=Q9NP94-2; Sequence=VSP_046889, VSP_046890; Note=Gene prediction based on EST data.; # AltName S39A2_HUMAN 6A1 # AltName S39A2_HUMAN Eti-1 # AltName S39A2_HUMAN Solute carrier family 39 member 2 # AltName S39A2_HUMAN Zrt- and Irt-like protein 2 # CCDS CCDS58303 -. [Q9NP94-2] # CCDS CCDS9563 -. [Q9NP94-1] # Ensembl ENST00000298681 ENSP00000298681; ENSG00000165794. [Q9NP94-1] # Ensembl ENST00000554422 ENSP00000452568; ENSG00000165794. [Q9NP94-2] # FUNCTION S39A2_HUMAN Mediates zinc uptake. Zinc uptake may be mediated by a Zn(2+)-HCO(3)(-) symport mechanism and can function in the presence of albumin. May also transport other divalent cations. May be important in contact inhibition of normal epithelial cells and loss of its expression may play a role in tumorigenesis. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0016023 cytoplasmic, membrane-bounded vesicle; IDA:UniProtKB. # GO_function GO:0005385 zinc ion transmembrane transporter activity; IMP:UniProtKB. # GO_process GO:0006829 zinc II ion transport; TAS:ProtInc. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # Genevisible Q9NP94 HS # HGNC HGNC:17127 SLC39A2 # INDUCTION S39A2_HUMAN Shows a dramatic induction in normal epithelial cells contact inhibition. # InterPro IPR003689 ZIP # KEGG_Brite ko02001 Solute carrier family # MIM 612166 gene # MISCELLANEOUS S39A2_HUMAN Zinc uptake is inhibited at pH levels below 7.0 and is stimulated at higher pH and is significantly inhibited by Cu(2+), Co(2+) and Mn(2+) ions. Not inhibited by Fe(2+). # Organism S39A2_HUMAN Homo sapiens (Human) # Pfam PF02535 Zip # Proteomes UP000005640 Chromosome 14 # Reactome R-HSA-442380 Zinc influx into cells by the SLC39 gene family # RecName S39A2_HUMAN Zinc transporter ZIP2 # RefSeq NP_001243517 NM_001256588.1. [Q9NP94-2] # RefSeq NP_055394 NM_014579.3. [Q9NP94-1] # SIMILARITY Belongs to the ZIP transporter (TC 2.A.5) family. {ECO 0000305}. # SUBCELLULAR LOCATION S39A2_HUMAN Cell membrane; Multi-pass membrane protein. # TCDB 2.A.5.3 the zinc (zn(2+))-iron (fe(2+)) permease (zip) family # TISSUE SPECIFICITY S39A2_HUMAN Expressed only in prostate and uterine epithelial cells. # UCSC uc001vyr human. [Q9NP94-1] # eggNOG ENOG4111GP2 LUCA # eggNOG KOG1558 Eukaryota BLAST swissprot:S39A2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S39A2_HUMAN BioCyc ZFISH:ENSG00000165794-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000165794-MONOMER COXPRESdb 29986 http://coxpresdb.jp/data/gene/29986.shtml CleanEx HS_SLC39A2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC39A2 DOI 10.1038/nature01348 http://dx.doi.org/10.1038/nature01348 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.275.8.5560 http://dx.doi.org/10.1074/jbc.275.8.5560 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AF186081 http://www.ebi.ac.uk/ena/data/view/AF186081 EMBL AK314974 http://www.ebi.ac.uk/ena/data/view/AK314974 EMBL AL161668 http://www.ebi.ac.uk/ena/data/view/AL161668 EMBL AL355922 http://www.ebi.ac.uk/ena/data/view/AL355922 EMBL AY029483 http://www.ebi.ac.uk/ena/data/view/AY029483 EMBL BC096723 http://www.ebi.ac.uk/ena/data/view/BC096723 EMBL BC098254 http://www.ebi.ac.uk/ena/data/view/BC098254 EMBL BC110057 http://www.ebi.ac.uk/ena/data/view/BC110057 EMBL D83039 http://www.ebi.ac.uk/ena/data/view/D83039 Ensembl ENST00000298681 http://www.ensembl.org/id/ENST00000298681 Ensembl ENST00000554422 http://www.ensembl.org/id/ENST00000554422 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016023 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016023 GO_function GO:0005385 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005385 GO_process GO:0006829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006829 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GeneCards SLC39A2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC39A2 GeneID 29986 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=29986 GeneTree ENSGT00530000063242 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000063242 H-InvDB HIX0202098 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0202098 HGNC HGNC:17127 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:17127 HOGENOM HOG000236331 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000236331&db=HOGENOM6 HOVERGEN HBG015174 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG015174&db=HOVERGEN HPA HPA030489 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA030489 InParanoid Q9NP94 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9NP94 InterPro IPR003689 http://www.ebi.ac.uk/interpro/entry/IPR003689 Jabion 29986 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=29986 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:29986 http://www.genome.jp/dbget-bin/www_bget?hsa:29986 KEGG_Orthology KO:K14709 http://www.genome.jp/dbget-bin/www_bget?KO:K14709 MIM 612166 http://www.ncbi.nlm.nih.gov/omim/612166 OMA QDEEWGG http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=QDEEWGG OrthoDB EOG091G0DW2 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0DW2 PSORT swissprot:S39A2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S39A2_HUMAN PSORT-B swissprot:S39A2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S39A2_HUMAN PSORT2 swissprot:S39A2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S39A2_HUMAN Pfam PF02535 http://pfam.xfam.org/family/PF02535 PharmGKB PA38202 http://www.pharmgkb.org/do/serve?objId=PA38202&objCls=Gene Phobius swissprot:S39A2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S39A2_HUMAN PhylomeDB Q9NP94 http://phylomedb.org/?seqid=Q9NP94 ProteinModelPortal Q9NP94 http://www.proteinmodelportal.org/query/uniprot/Q9NP94 PubMed 10681536 http://www.ncbi.nlm.nih.gov/pubmed/10681536 PubMed 12508121 http://www.ncbi.nlm.nih.gov/pubmed/12508121 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 7751801 http://www.ncbi.nlm.nih.gov/pubmed/7751801 Reactome R-HSA-442380 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-442380 RefSeq NP_001243517 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001243517 RefSeq NP_055394 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_055394 STRING 9606.ENSP00000298681 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000298681&targetmode=cogs TCDB 2.A.5.3 http://www.tcdb.org/search/result.php?tc=2.A.5.3 UCSC uc001vyr http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001vyr&org=rat UniGene Hs.175783 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.175783 UniProtKB S39A2_HUMAN http://www.uniprot.org/uniprot/S39A2_HUMAN UniProtKB-AC Q9NP94 http://www.uniprot.org/uniprot/Q9NP94 charge swissprot:S39A2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S39A2_HUMAN eggNOG ENOG4111GP2 http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111GP2 eggNOG KOG1558 http://eggnogapi.embl.de/nog_data/html/tree/KOG1558 epestfind swissprot:S39A2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S39A2_HUMAN garnier swissprot:S39A2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S39A2_HUMAN helixturnhelix swissprot:S39A2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S39A2_HUMAN hmoment swissprot:S39A2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S39A2_HUMAN iep swissprot:S39A2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S39A2_HUMAN inforesidue swissprot:S39A2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S39A2_HUMAN neXtProt NX_Q9NP94 http://www.nextprot.org/db/entry/NX_Q9NP94 octanol swissprot:S39A2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S39A2_HUMAN pepcoil swissprot:S39A2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S39A2_HUMAN pepdigest swissprot:S39A2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S39A2_HUMAN pepinfo swissprot:S39A2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S39A2_HUMAN pepnet swissprot:S39A2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S39A2_HUMAN pepstats swissprot:S39A2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S39A2_HUMAN pepwheel swissprot:S39A2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S39A2_HUMAN pepwindow swissprot:S39A2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S39A2_HUMAN sigcleave swissprot:S39A2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S39A2_HUMAN ## Database ID URL or Descriptions # BioGrid 123891 2 # ChiTaRS SLC41A2 human # Ensembl ENST00000258538 ENSP00000258538; ENSG00000136052 # ExpressionAtlas Q96JW4 baseline and differential # FUNCTION S41A2_HUMAN Acts as a plasma-membrane magnesium transporter. {ECO 0000269|PubMed 16984228}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0015095 magnesium ion transmembrane transporter activity; TAS:Reactome. # GO_process GO:0055085 transmembrane transport; IBA:GO_Central. # GO_process GO:0070838 divalent metal ion transport; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.10.357.20 -; 2. # Genevisible Q96JW4 HS # HGNC HGNC:31045 SLC41A2 # INTERACTION S41A2_HUMAN Q8N6L0 CCDC155; NbExp=5; IntAct=EBI-10290130, EBI-749265; # IntAct Q96JW4 4 # InterPro IPR006667 SLC41_membr_dom # KEGG_Brite ko02001 Solute carrier family # MIM 610802 gene # Organism S41A2_HUMAN Homo sapiens (Human) # Pfam PF01769 MgtE; 2 # Proteomes UP000005640 Chromosome 12 # Reactome R-HSA-425410 Metal ion SLC transporters # RecName S41A2_HUMAN Solute carrier family 41 member 2 # RefSeq NP_115524 NM_032148.3 # RefSeq XP_005269233 XM_005269176.1 # RefSeq XP_005269235 XM_005269178.1 # RefSeq XP_005269236 XM_005269179.1 # RefSeq XP_006719693 XM_006719630.2 # RefSeq XP_011537109 XM_011538807.2 # RefSeq XP_011537110 XM_011538808.1 # RefSeq XP_011537111 XM_011538809.1 # RefSeq XP_011537112 XM_011538810.2 # RefSeq XP_011537113 XM_011538811.2 # RefSeq XP_016875502 XM_017020013.1 # SEQUENCE CAUTION S41A2_HUMAN Sequence=AAH36734.1; Type=Erroneous initiation; Evidence={ECO 0000305}; Sequence=AAI06872.2; Type=Erroneous initiation; Evidence={ECO 0000305}; Sequence=AAI06873.2; Type=Erroneous initiation; Evidence={ECO 0000305}; Sequence=BAB55402.1; Type=Frameshift; Positions=69, 101, 103; Evidence={ECO 0000305}; Sequence=CAB66762.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the SLC41A transporter family. {ECO 0000305}. # SUBCELLULAR LOCATION S41A2_HUMAN Cell membrane {ECO 0000269|PubMed 16984228}; Multi-pass membrane protein {ECO 0000269|PubMed 16984228}. # TCDB 1.A.26.2 the mg(2+) transporter-e (mgte) family # UCSC uc001tla human # eggNOG ENOG410XSTG LUCA # eggNOG KOG3788 Eukaryota BLAST swissprot:S41A2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S41A2_HUMAN BioCyc ZFISH:ENSG00000136052-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000136052-MONOMER COXPRESdb 84102 http://coxpresdb.jp/data/gene/84102.shtml CleanEx HS_SLC41A2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC41A2 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1042/BJ20060673 http://dx.doi.org/10.1042/BJ20060673 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1101/gr.GR1547R http://dx.doi.org/10.1101/gr.GR1547R EMBL AK027838 http://www.ebi.ac.uk/ena/data/view/AK027838 EMBL AL136828 http://www.ebi.ac.uk/ena/data/view/AL136828 EMBL BC036734 http://www.ebi.ac.uk/ena/data/view/BC036734 EMBL BC106871 http://www.ebi.ac.uk/ena/data/view/BC106871 EMBL BC106872 http://www.ebi.ac.uk/ena/data/view/BC106872 Ensembl ENST00000258538 http://www.ensembl.org/id/ENST00000258538 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0015095 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015095 GO_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GO_process GO:0070838 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070838 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.10.357.20 http://www.cathdb.info/version/latest/superfamily/1.10.357.20 GeneCards SLC41A2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC41A2 GeneID 84102 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=84102 GeneTree ENSGT00390000016816 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000016816 HGNC HGNC:31045 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:31045 HOGENOM HOG000007017 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000007017&db=HOGENOM6 HOVERGEN HBG057187 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG057187&db=HOVERGEN HPA HPA038658 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA038658 InParanoid Q96JW4 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q96JW4 IntAct Q96JW4 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q96JW4* InterPro IPR006667 http://www.ebi.ac.uk/interpro/entry/IPR006667 Jabion 84102 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=84102 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:84102 http://www.genome.jp/dbget-bin/www_bget?hsa:84102 KEGG_Orthology KO:K15122 http://www.genome.jp/dbget-bin/www_bget?KO:K15122 MIM 610802 http://www.ncbi.nlm.nih.gov/omim/610802 MINT MINT-4722037 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-4722037 OMA YCDGREA http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=YCDGREA OrthoDB EOG091G08MB http://cegg.unige.ch/orthodb/results?searchtext=EOG091G08MB PSORT swissprot:S41A2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S41A2_HUMAN PSORT-B swissprot:S41A2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S41A2_HUMAN PSORT2 swissprot:S41A2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S41A2_HUMAN Pfam PF01769 http://pfam.xfam.org/family/PF01769 PharmGKB PA134931432 http://www.pharmgkb.org/do/serve?objId=PA134931432&objCls=Gene Phobius swissprot:S41A2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S41A2_HUMAN PhylomeDB Q96JW4 http://phylomedb.org/?seqid=Q96JW4 ProteinModelPortal Q96JW4 http://www.proteinmodelportal.org/query/uniprot/Q96JW4 PubMed 11230166 http://www.ncbi.nlm.nih.gov/pubmed/11230166 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16984228 http://www.ncbi.nlm.nih.gov/pubmed/16984228 Reactome R-HSA-425410 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-425410 RefSeq NP_115524 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_115524 RefSeq XP_005269233 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005269233 RefSeq XP_005269235 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005269235 RefSeq XP_005269236 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005269236 RefSeq XP_006719693 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006719693 RefSeq XP_011537109 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011537109 RefSeq XP_011537110 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011537110 RefSeq XP_011537111 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011537111 RefSeq XP_011537112 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011537112 RefSeq XP_011537113 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011537113 RefSeq XP_016875502 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016875502 STRING 9606.ENSP00000258538 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000258538&targetmode=cogs TCDB 1.A.26.2 http://www.tcdb.org/search/result.php?tc=1.A.26.2 UCSC uc001tla http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001tla&org=rat UniGene Hs.577463 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.577463 UniProtKB S41A2_HUMAN http://www.uniprot.org/uniprot/S41A2_HUMAN UniProtKB-AC Q96JW4 http://www.uniprot.org/uniprot/Q96JW4 charge swissprot:S41A2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S41A2_HUMAN eggNOG ENOG410XSTG http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XSTG eggNOG KOG3788 http://eggnogapi.embl.de/nog_data/html/tree/KOG3788 epestfind swissprot:S41A2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S41A2_HUMAN garnier swissprot:S41A2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S41A2_HUMAN helixturnhelix swissprot:S41A2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S41A2_HUMAN hmoment swissprot:S41A2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S41A2_HUMAN iep swissprot:S41A2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S41A2_HUMAN inforesidue swissprot:S41A2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S41A2_HUMAN neXtProt NX_Q96JW4 http://www.nextprot.org/db/entry/NX_Q96JW4 octanol swissprot:S41A2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S41A2_HUMAN pepcoil swissprot:S41A2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S41A2_HUMAN pepdigest swissprot:S41A2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S41A2_HUMAN pepinfo swissprot:S41A2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S41A2_HUMAN pepnet swissprot:S41A2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S41A2_HUMAN pepstats swissprot:S41A2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S41A2_HUMAN pepwheel swissprot:S41A2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S41A2_HUMAN pepwindow swissprot:S41A2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S41A2_HUMAN sigcleave swissprot:S41A2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S41A2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS GTR6_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9UGQ3-1; Sequence=Displayed; Name=2; IsoId=Q9UGQ3-2; Sequence=VSP_041402; # AltName GTR6_HUMAN Glucose transporter type 6 # AltName GTR6_HUMAN Glucose transporter type 9 # BioGrid 116352 3 # CAUTION Has been described as GLUT9 in literature, but this gene name has already been used for SLC2A9. {ECO 0000305}. # CCDS CCDS48052 -. [Q9UGQ3-2] # CCDS CCDS6975 -. [Q9UGQ3-1] # CDD cd06174 MFS # ChiTaRS SLC2A6 human # Ensembl ENST00000371897 ENSP00000360964; ENSG00000160326. [Q9UGQ3-2] # Ensembl ENST00000371899 ENSP00000360966; ENSG00000160326. [Q9UGQ3-1] # Ensembl ENST00000625425 ENSP00000486637; ENSG00000281165. [Q9UGQ3-2] # Ensembl ENST00000626271 ENSP00000487067; ENSG00000281165. [Q9UGQ3-1] # ExpressionAtlas Q9UGQ3 baseline and differential # FUNCTION GTR6_HUMAN Facilitative glucose transporter; binds cytochalasin B with low affinity. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0016020 membrane; NAS:UniProtKB. # GO_function GO:0005355 glucose transmembrane transporter activity; NAS:UniProtKB. # GO_function GO:0055056 D-glucose transmembrane transporter activity; TAS:Reactome. # GO_function GTR6_HUMAN GO 0005351 sugar proton symporter activity; IBA GO_Central. # GO_process GO:0046323 glucose import; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # Genevisible Q9UGQ3 HS # HGNC HGNC:11011 SLC2A6 # InterPro IPR003663 Sugar/inositol_transpt # InterPro IPR005828 MFS_sugar_transport-like # InterPro IPR005829 Sugar_transporter_CS # InterPro IPR020846 MFS_dom # KEGG_Brite ko02000 Transporters # KEGG_Brite ko02001 Solute carrier family # MIM 606813 gene # Organism GTR6_HUMAN Homo sapiens (Human) # PRINTS PR00171 SUGRTRNSPORT # PROSITE PS00216 SUGAR_TRANSPORT_1 # PROSITE PS00217 SUGAR_TRANSPORT_2 # PROSITE PS50850 MFS # Pfam PF00083 Sugar_tr # Proteomes UP000005640 Chromosome 9 # Reactome R-HSA-428790 Facilitative Na+-independent glucose transporters # RecName GTR6_HUMAN Solute carrier family 2, facilitated glucose transporter member 6 # RefSeq NP_001138571 NM_001145099.1. [Q9UGQ3-2] # RefSeq NP_060055 NM_017585.3. [Q9UGQ3-1] # SIMILARITY Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION GTR6_HUMAN Cell membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. Note=The dileucine internalization motif is critical for intracellular sequestration. {ECO 0000250}. # SUPFAM SSF103473 SSF103473; 2 # TCDB 2.A.1.1.88 the major facilitator superfamily (mfs) # TIGRFAMs TIGR00879 SP # TISSUE SPECIFICITY GTR6_HUMAN Highly expressed in brain, spleen and peripheral blood leukocytes. # UCSC uc004cee human. [Q9UGQ3-1] # eggNOG ENOG410XNQK LUCA # eggNOG KOG0254 Eukaryota BLAST swissprot:GTR6_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:GTR6_HUMAN BioCyc ZFISH:ENSG00000160326-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000160326-MONOMER COXPRESdb 11182 http://coxpresdb.jp/data/gene/11182.shtml CleanEx HS_SLC2A6 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC2A6 DOI 10.1016/j.molcel.2008.07.007 http://dx.doi.org/10.1016/j.molcel.2008.07.007 DOI 10.1038/nature02465 http://dx.doi.org/10.1038/nature02465 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1042/bj3500771 http://dx.doi.org/10.1042/bj3500771 DOI 10.1073/pnas.1210303109 http://dx.doi.org/10.1073/pnas.1210303109 DOI 10.1093/dnares/12.2.117 http://dx.doi.org/10.1093/dnares/12.2.117 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AJ011372 http://www.ebi.ac.uk/ena/data/view/AJ011372 EMBL AK074836 http://www.ebi.ac.uk/ena/data/view/AK074836 EMBL AK074927 http://www.ebi.ac.uk/ena/data/view/AK074927 EMBL AK222919 http://www.ebi.ac.uk/ena/data/view/AK222919 EMBL AL593848 http://www.ebi.ac.uk/ena/data/view/AL593848 EMBL BC013740 http://www.ebi.ac.uk/ena/data/view/BC013740 EMBL CH471090 http://www.ebi.ac.uk/ena/data/view/CH471090 EMBL CH471090 http://www.ebi.ac.uk/ena/data/view/CH471090 EMBL Y17803 http://www.ebi.ac.uk/ena/data/view/Y17803 Ensembl ENST00000371897 http://www.ensembl.org/id/ENST00000371897 Ensembl ENST00000371899 http://www.ensembl.org/id/ENST00000371899 Ensembl ENST00000625425 http://www.ensembl.org/id/ENST00000625425 Ensembl ENST00000626271 http://www.ensembl.org/id/ENST00000626271 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_function GO:0005351 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005351 GO_function GO:0005355 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005355 GO_function GO:0055056 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055056 GO_process GO:0046323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046323 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GeneCards SLC2A6 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC2A6 GeneID 11182 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=11182 GeneTree ENSGT00850000132274 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00850000132274 H-InvDB HIX0008509 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0008509 HGNC HGNC:11011 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11011 HOGENOM HOG000202868 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000202868&db=HOGENOM6 HOVERGEN HBG104335 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG104335&db=HOVERGEN HPA CAB017800 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB017800 HPA CAB046014 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB046014 HPA HPA042272 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA042272 InParanoid Q9UGQ3 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9UGQ3 InterPro IPR003663 http://www.ebi.ac.uk/interpro/entry/IPR003663 InterPro IPR005828 http://www.ebi.ac.uk/interpro/entry/IPR005828 InterPro IPR005829 http://www.ebi.ac.uk/interpro/entry/IPR005829 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 11182 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=11182 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:11182 http://www.genome.jp/dbget-bin/www_bget?hsa:11182 KEGG_Orthology KO:K08144 http://www.genome.jp/dbget-bin/www_bget?KO:K08144 MIM 606813 http://www.ncbi.nlm.nih.gov/omim/606813 OMA KSQASWF http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=KSQASWF OrthoDB EOG091G1600 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G1600 PRINTS PR00171 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00171 PROSITE PS00216 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00216 PROSITE PS00217 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00217 PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PSORT swissprot:GTR6_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:GTR6_HUMAN PSORT-B swissprot:GTR6_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:GTR6_HUMAN PSORT2 swissprot:GTR6_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:GTR6_HUMAN Pfam PF00083 http://pfam.xfam.org/family/PF00083 PharmGKB PA35881 http://www.pharmgkb.org/do/serve?objId=PA35881&objCls=Gene Phobius swissprot:GTR6_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:GTR6_HUMAN PhylomeDB Q9UGQ3 http://phylomedb.org/?seqid=Q9UGQ3 ProteinModelPortal Q9UGQ3 http://www.proteinmodelportal.org/query/uniprot/Q9UGQ3 PubMed 10970791 http://www.ncbi.nlm.nih.gov/pubmed/10970791 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15164053 http://www.ncbi.nlm.nih.gov/pubmed/15164053 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16303743 http://www.ncbi.nlm.nih.gov/pubmed/16303743 PubMed 18691976 http://www.ncbi.nlm.nih.gov/pubmed/18691976 PubMed 22814378 http://www.ncbi.nlm.nih.gov/pubmed/22814378 Reactome R-HSA-428790 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-428790 RefSeq NP_001138571 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001138571 RefSeq NP_060055 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_060055 STRING 9606.ENSP00000360966 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000360966&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.1.1.88 http://www.tcdb.org/search/result.php?tc=2.A.1.1.88 TIGRFAMs TIGR00879 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00879 UCSC uc004cee http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc004cee&org=rat UniGene Hs.244378 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.244378 UniProtKB GTR6_HUMAN http://www.uniprot.org/uniprot/GTR6_HUMAN UniProtKB-AC Q9UGQ3 http://www.uniprot.org/uniprot/Q9UGQ3 charge swissprot:GTR6_HUMAN http://rest.g-language.org/emboss/charge/swissprot:GTR6_HUMAN eggNOG ENOG410XNQK http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XNQK eggNOG KOG0254 http://eggnogapi.embl.de/nog_data/html/tree/KOG0254 epestfind swissprot:GTR6_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:GTR6_HUMAN garnier swissprot:GTR6_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:GTR6_HUMAN helixturnhelix swissprot:GTR6_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:GTR6_HUMAN hmoment swissprot:GTR6_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:GTR6_HUMAN iep swissprot:GTR6_HUMAN http://rest.g-language.org/emboss/iep/swissprot:GTR6_HUMAN inforesidue swissprot:GTR6_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:GTR6_HUMAN neXtProt NX_Q9UGQ3 http://www.nextprot.org/db/entry/NX_Q9UGQ3 octanol swissprot:GTR6_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:GTR6_HUMAN pepcoil swissprot:GTR6_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:GTR6_HUMAN pepdigest swissprot:GTR6_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:GTR6_HUMAN pepinfo swissprot:GTR6_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:GTR6_HUMAN pepnet swissprot:GTR6_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:GTR6_HUMAN pepstats swissprot:GTR6_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:GTR6_HUMAN pepwheel swissprot:GTR6_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:GTR6_HUMAN pepwindow swissprot:GTR6_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:GTR6_HUMAN sigcleave swissprot:GTR6_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:GTR6_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS NRAM1_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P49279-1; Sequence=Displayed; Name=2; IsoId=P49279-2; Sequence=VSP_047875, VSP_047876; Note=No experimental confirmation available.; # AltName NRAM1_HUMAN Solute carrier family 11 member 1 # CCDS CCDS2415 -. [P49279-1] # ChiTaRS SLC11A1 human # Ensembl ENST00000233202 ENSP00000233202; ENSG00000018280. [P49279-1] # ExpressionAtlas P49279 baseline and differential # FUNCTION NRAM1_HUMAN Divalent transition metal (iron and manganese) transporter involved in iron metabolism and host resistance to certain pathogens. Macrophage-specific membrane transport function. Controls natural resistance to infection with intracellular parasites. Pathogen resistance involves sequestration of Fe(2+) and Mn(2+), cofactors of both prokaryotic and eukaryotic catalases and superoxide dismutases, not only to protect the macrophage against its own generation of reactive oxygen species, but to deny the cations to the pathogen for synthesis of its protective enzymes. # GO_component GO:0005764 lysosome; ISS:BHF-UCL. # GO_component GO:0005770 late endosome; ISS:BHF-UCL. # GO_component GO:0005886 plasma membrane; IMP:BHF-UCL. # GO_component GO:0005887 integral component of plasma membrane; NAS:UniProtKB. # GO_component GO:0009279 cell outer membrane; IEA:Ensembl. # GO_component GO:0030670 phagocytic vesicle membrane; IDA:BHF-UCL. # GO_component GO:0031902 late endosome membrane; TAS:Reactome. # GO_component GO:0070821 tertiary granule membrane; IDA:BHF-UCL. # GO_function GO:0005384 manganese ion transmembrane transporter activity; ISS:BHF-UCL. # GO_function GO:0042803 protein homodimerization activity; IDA:UniProtKB. # GO_function GO:0046915 transition metal ion transmembrane transporter activity; IGI:BHF-UCL. # GO_function NRAM1_HUMAN GO 0051139 metal ion proton antiporter activity; IGI BHF-UCL. # GO_process GO:0000060 protein import into nucleus, translocation; IEA:Ensembl. # GO_process GO:0001818 negative regulation of cytokine production; ISS:BHF-UCL. # GO_process GO:0001819 positive regulation of cytokine production; ISS:BHF-UCL. # GO_process GO:0002309 T cell proliferation involved in immune response; ISS:BHF-UCL. # GO_process GO:0002369 T cell cytokine production; ISS:BHF-UCL. # GO_process GO:0002606 positive regulation of dendritic cell antigen processing and presentation; ISS:BHF-UCL. # GO_process GO:0002827 positive regulation of T-helper 1 type immune response; ISS:BHF-UCL. # GO_process GO:0006826 iron ion transport; IMP:BHF-UCL. # GO_process GO:0006828 manganese ion transport; ISS:BHF-UCL. # GO_process GO:0006876 cellular cadmium ion homeostasis; IGI:BHF-UCL. # GO_process GO:0006879 cellular iron ion homeostasis; IMP:BHF-UCL. # GO_process GO:0006909 phagocytosis; ISS:BHF-UCL. # GO_process GO:0006954 inflammatory response; ISS:BHF-UCL. # GO_process GO:0007035 vacuolar acidification; ISS:BHF-UCL. # GO_process GO:0009617 response to bacterium; IDA:UniProtKB. # GO_process GO:0010628 positive regulation of gene expression; ISS:BHF-UCL. # GO_process GO:0015707 nitrite transport; ISS:BHF-UCL. # GO_process GO:0032147 activation of protein kinase activity; ISS:BHF-UCL. # GO_process GO:0032496 response to lipopolysaccharide; ISS:BHF-UCL. # GO_process GO:0032623 interleukin-2 production; ISS:BHF-UCL. # GO_process GO:0032632 interleukin-3 production; ISS:BHF-UCL. # GO_process GO:0032729 positive regulation of interferon-gamma production; ISS:BHF-UCL. # GO_process GO:0034341 response to interferon-gamma; ISS:BHF-UCL. # GO_process GO:0042060 wound healing; ISS:BHF-UCL. # GO_process GO:0042116 macrophage activation; ISS:BHF-UCL. # GO_process GO:0042742 defense response to bacterium; ISS:BHF-UCL. # GO_process GO:0042832 defense response to protozoan; ISS:BHF-UCL. # GO_process GO:0043091 L-arginine import; ISS:BHF-UCL. # GO_process GO:0045342 MHC class II biosynthetic process; ISS:BHF-UCL. # GO_process GO:0045454 cell redox homeostasis; TAS:Reactome. # GO_process GO:0045730 respiratory burst; ISS:BHF-UCL. # GO_process GO:0045944 positive regulation of transcription from RNA polymerase II promoter; ISS:BHF-UCL. # GO_process GO:0048002 antigen processing and presentation of peptide antigen; ISS:BHF-UCL. # GO_process GO:0048255 mRNA stabilization; ISS:BHF-UCL. # GO_process GO:0050766 positive regulation of phagocytosis; ISS:BHF-UCL. # GO_process GO:0050829 defense response to Gram-negative bacterium; ISS:BHF-UCL. # GO_process GO:0055072 iron ion homeostasis; ISS:BHF-UCL. # GO_process GO:0060586 multicellular organismal iron ion homeostasis; ISS:BHF-UCL. # GO_process GO:0070574 cadmium ion transmembrane transport; IGI:BHF-UCL. # GO_process GO:0070839 divalent metal ion export; ISS:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005764 lysosome # GOslim_component GO:0005768 endosome # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0002376 immune system process # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007155 cell adhesion # GOslim_process GO:0008150 biological_process # GOslim_process GO:0008283 cell proliferation # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0016192 vesicle-mediated transport # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Genevisible P49279 HS # HAMAP MF_00221 NRAMP # HGNC HGNC:10907 SLC11A1 # INDUCTION NRAM1_HUMAN In response to lymphokine or bacterial products. # InterPro IPR001046 NRAMP_fam # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02001 Solute carrier family # KEGG_Disease H00342 [Infectious disease] Tuberculosis # KEGG_Pathway ko04142 Lysosome # KEGG_Pathway ko04978 Mineral absorption # MIM 600266 gene # MIM 607948 phenotype # MIM 610446 phenotype # Organism NRAM1_HUMAN Homo sapiens (Human) # Orphanet 3389 Tuberculosis # PANTHER PTHR11706 PTHR11706 # PIR I55679 I55679 # PIR JC4095 JC4095 # POLYMORPHISM Genetic variation in SLC11A1 is associated with susceptibility to infection with Mycobacterium ulcerans [MIM 610446]. # POLYMORPHISM Genetic variations in SLC11A1 determine Mycobacterium tuberculosis susceptibility [MIM 607948]. # PRINTS PR00447 NATRESASSCMP # Pfam PF01566 Nramp # Proteomes UP000005640 Chromosome 2 # Reactome R-HSA-1222556 ROS, RNS production in response to bacteria # Reactome R-HSA-425410 Metal ion SLC transporters # Reactome R-HSA-6798695 Neutrophil degranulation # Reactome R-HSA-6803544 Ion influx/efflux at host-pathogen interface # RecName NRAM1_HUMAN Natural resistance-associated macrophage protein 1 # RefSeq NP_000569 NM_000578.3. [P49279-1] # RefSeq XP_005246850 XM_005246793.3 # RefSeq XP_005246851 XM_005246794.3 # RefSeq XP_006712772 XM_006712709.3. [P49279-2] # RefSeq XP_006712773 XM_006712710.3. [P49279-2] # RefSeq XP_016860255 XM_017004766.1 # SIMILARITY Belongs to the NRAMP family. {ECO 0000305}. # SUBCELLULAR LOCATION NRAM1_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # TCDB 2.A.55.2 the metal ion (mn(2+)-iron) transporter (nramp) family # TIGRFAMs TIGR01197 nramp # TISSUE SPECIFICITY NRAM1_HUMAN Macrophages; peripheral blood leukocytes, lung, spleen and liver. # UCSC uc002vhv human. [P49279-1] # eggNOG COG1914 LUCA # eggNOG KOG1291 Eukaryota BLAST swissprot:NRAM1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:NRAM1_HUMAN BioCyc ZFISH:ENSG00000018280-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000018280-MONOMER COXPRESdb 6556 http://coxpresdb.jp/data/gene/6556.shtml CleanEx HS_SLC11A1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC11A1 DOI 10.1006/bbrc.1994.2572 http://dx.doi.org/10.1006/bbrc.1994.2572 DOI 10.1007/s003350010151 http://dx.doi.org/10.1007/s003350010151 DOI 10.1016/0165-2478(95)00070-L http://dx.doi.org/10.1016/0165-2478(95)00070-L DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1038/sj.gene.6364281 http://dx.doi.org/10.1038/sj.gene.6364281 DOI 10.1073/pnas.0503368102 http://dx.doi.org/10.1073/pnas.0503368102 DOI 10.1084/jem.180.5.1741 http://dx.doi.org/10.1084/jem.180.5.1741 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AC021016 http://www.ebi.ac.uk/ena/data/view/AC021016 EMBL AF229163 http://www.ebi.ac.uk/ena/data/view/AF229163 EMBL BC071165 http://www.ebi.ac.uk/ena/data/view/BC071165 EMBL CH471063 http://www.ebi.ac.uk/ena/data/view/CH471063 EMBL D38171 http://www.ebi.ac.uk/ena/data/view/D38171 EMBL D50402 http://www.ebi.ac.uk/ena/data/view/D50402 EMBL D50403 http://www.ebi.ac.uk/ena/data/view/D50403 EMBL L32185 http://www.ebi.ac.uk/ena/data/view/L32185 EMBL L38592 http://www.ebi.ac.uk/ena/data/view/L38592 EMBL L38593 http://www.ebi.ac.uk/ena/data/view/L38593 EMBL X82015 http://www.ebi.ac.uk/ena/data/view/X82015 Ensembl ENST00000233202 http://www.ensembl.org/id/ENST00000233202 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005764 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005764 GO_component GO:0005770 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005770 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0009279 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009279 GO_component GO:0030670 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030670 GO_component GO:0031902 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031902 GO_component GO:0070821 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070821 GO_function GO:0005384 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005384 GO_function GO:0042803 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042803 GO_function GO:0046915 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046915 GO_function GO:0051139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051139 GO_process GO:0000060 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000060 GO_process GO:0001818 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001818 GO_process GO:0001819 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001819 GO_process GO:0002309 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002309 GO_process GO:0002369 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002369 GO_process GO:0002606 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002606 GO_process GO:0002827 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002827 GO_process GO:0006826 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006826 GO_process GO:0006828 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006828 GO_process GO:0006876 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006876 GO_process GO:0006879 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006879 GO_process GO:0006909 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006909 GO_process GO:0006954 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006954 GO_process GO:0007035 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007035 GO_process GO:0009617 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009617 GO_process GO:0010628 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010628 GO_process GO:0015707 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015707 GO_process GO:0032147 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032147 GO_process GO:0032496 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032496 GO_process GO:0032623 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032623 GO_process GO:0032632 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032632 GO_process GO:0032729 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032729 GO_process GO:0034341 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034341 GO_process GO:0042060 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042060 GO_process GO:0042116 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042116 GO_process GO:0042742 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042742 GO_process GO:0042832 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042832 GO_process GO:0043091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043091 GO_process GO:0045342 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045342 GO_process GO:0045454 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045454 GO_process GO:0045730 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045730 GO_process GO:0045944 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045944 GO_process GO:0048002 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048002 GO_process GO:0048255 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048255 GO_process GO:0050766 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050766 GO_process GO:0050829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050829 GO_process GO:0055072 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055072 GO_process GO:0060586 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060586 GO_process GO:0070574 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070574 GO_process GO:0070839 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070839 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005764 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005764 GOslim_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0002376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002376 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007155 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007155 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0008283 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008283 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0016192 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016192 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC11A1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC11A1 GeneID 6556 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6556 GeneTree ENSGT00390000006526 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000006526 HAMAP MF_00221 http://hamap.expasy.org/unirule/MF_00221 HGNC HGNC:10907 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10907 HOGENOM HOG000152203 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000152203&db=HOGENOM6 HOVERGEN HBG052665 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052665&db=HOVERGEN HPA HPA029590 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA029590 InParanoid P49279 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P49279 InterPro IPR001046 http://www.ebi.ac.uk/interpro/entry/IPR001046 Jabion 6556 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6556 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Disease H00342 http://www.genome.jp/dbget-bin/www_bget?H00342 KEGG_Gene hsa:6556 http://www.genome.jp/dbget-bin/www_bget?hsa:6556 KEGG_Orthology KO:K12347 http://www.genome.jp/dbget-bin/www_bget?KO:K12347 KEGG_Pathway ko04142 http://www.genome.jp/kegg-bin/show_pathway?ko04142 KEGG_Pathway ko04978 http://www.genome.jp/kegg-bin/show_pathway?ko04978 MIM 600266 http://www.ncbi.nlm.nih.gov/omim/600266 MIM 607948 http://www.ncbi.nlm.nih.gov/omim/607948 MIM 610446 http://www.ncbi.nlm.nih.gov/omim/610446 OMA HQRFLYG http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=HQRFLYG Orphanet 3389 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=3389 OrthoDB EOG091G05M9 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G05M9 PANTHER PTHR11706 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11706 PRINTS PR00447 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00447 PSORT swissprot:NRAM1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:NRAM1_HUMAN PSORT-B swissprot:NRAM1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:NRAM1_HUMAN PSORT2 swissprot:NRAM1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:NRAM1_HUMAN Pfam PF01566 http://pfam.xfam.org/family/PF01566 PharmGKB PA319 http://www.pharmgkb.org/do/serve?objId=PA319&objCls=Gene Phobius swissprot:NRAM1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:NRAM1_HUMAN PhylomeDB P49279 http://phylomedb.org/?seqid=P49279 ProteinModelPortal P49279 http://www.proteinmodelportal.org/query/uniprot/P49279 PubMed 10967134 http://www.ncbi.nlm.nih.gov/pubmed/10967134 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 PubMed 16103355 http://www.ncbi.nlm.nih.gov/pubmed/16103355 PubMed 16395392 http://www.ncbi.nlm.nih.gov/pubmed/16395392 PubMed 7717395 http://www.ncbi.nlm.nih.gov/pubmed/7717395 PubMed 7964458 http://www.ncbi.nlm.nih.gov/pubmed/7964458 PubMed 7980580 http://www.ncbi.nlm.nih.gov/pubmed/7980580 PubMed 8529098 http://www.ncbi.nlm.nih.gov/pubmed/8529098 PubMed 8537108 http://www.ncbi.nlm.nih.gov/pubmed/8537108 Reactome R-HSA-1222556 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1222556 Reactome R-HSA-425410 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-425410 Reactome R-HSA-6798695 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6798695 Reactome R-HSA-6803544 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6803544 RefSeq NP_000569 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000569 RefSeq XP_005246850 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005246850 RefSeq XP_005246851 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005246851 RefSeq XP_006712772 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006712772 RefSeq XP_006712773 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006712773 RefSeq XP_016860255 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016860255 STRING 9606.ENSP00000233202 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000233202&targetmode=cogs TCDB 2.A.55.2 http://www.tcdb.org/search/result.php?tc=2.A.55.2 TIGRFAMs TIGR01197 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01197 UCSC uc002vhv http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002vhv&org=rat UniGene Hs.591607 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.591607 UniProtKB NRAM1_HUMAN http://www.uniprot.org/uniprot/NRAM1_HUMAN UniProtKB-AC P49279 http://www.uniprot.org/uniprot/P49279 charge swissprot:NRAM1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:NRAM1_HUMAN eggNOG COG1914 http://eggnogapi.embl.de/nog_data/html/tree/COG1914 eggNOG KOG1291 http://eggnogapi.embl.de/nog_data/html/tree/KOG1291 epestfind swissprot:NRAM1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:NRAM1_HUMAN garnier swissprot:NRAM1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:NRAM1_HUMAN helixturnhelix swissprot:NRAM1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:NRAM1_HUMAN hmoment swissprot:NRAM1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:NRAM1_HUMAN iep swissprot:NRAM1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:NRAM1_HUMAN inforesidue swissprot:NRAM1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:NRAM1_HUMAN neXtProt NX_P49279 http://www.nextprot.org/db/entry/NX_P49279 octanol swissprot:NRAM1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:NRAM1_HUMAN pepcoil swissprot:NRAM1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:NRAM1_HUMAN pepdigest swissprot:NRAM1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:NRAM1_HUMAN pepinfo swissprot:NRAM1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:NRAM1_HUMAN pepnet swissprot:NRAM1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:NRAM1_HUMAN pepstats swissprot:NRAM1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:NRAM1_HUMAN pepwheel swissprot:NRAM1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:NRAM1_HUMAN pepwindow swissprot:NRAM1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:NRAM1_HUMAN sigcleave swissprot:NRAM1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:NRAM1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS KCNT2_HUMAN Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q6UVM3-1; Sequence=Displayed; Name=2; IsoId=Q6UVM3-2; Sequence=VSP_029855; Name=3; IsoId=Q6UVM3-3; Sequence=VSP_029854, VSP_029855, VSP_029856; Name=4; IsoId=Q6UVM3-4; Sequence=VSP_029852, VSP_029853, VSP_029855, VSP_029856, VSP_029857; # AltName KCNT2_HUMAN Sequence like an intermediate conductance potassium channel subunit # AltName KCNT2_HUMAN Sodium and chloride-activated ATP-sensitive potassium channel Slo2.1 # BioGrid 131252 8 # CCDS CCDS1384 -. [Q6UVM3-1] # CCDS CCDS72994 -. [Q6UVM3-3] # CCDS CCDS72995 -. [Q6UVM3-2] # ChiTaRS KCNT2 human # Ensembl ENST00000294725 ENSP00000294725; ENSG00000162687. [Q6UVM3-1] # Ensembl ENST00000367433 ENSP00000356403; ENSG00000162687. [Q6UVM3-2] # Ensembl ENST00000609185 ENSP00000476657; ENSG00000162687. [Q6UVM3-3] # ExpressionAtlas Q6UVM3 baseline and differential # FUNCTION KCNT2_HUMAN Outward rectifying potassium channel. Produces rapidly activating outward rectifier K(+) currents. Activated by high intracellular sodium and chloride levels. Channel activity is inhibited by ATP and by inhalation anesthetics, such as isoflurane (By similarity). Inhibited upon stimulation of G-protein coupled receptors, such as CHRM1 and GRIA1. {ECO 0000250, ECO 0000269|PubMed 14684870, ECO 0000269|PubMed 16687497}. # GO_component GO:0008076 voltage-gated potassium channel complex; IBA:GO_Central. # GO_function GO:0005249 voltage-gated potassium channel activity; IBA:GO_Central. # GO_function GO:0005524 ATP binding; IEA:UniProtKB-KW. # GO_function GO:0015269 calcium-activated potassium channel activity; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # Gene3D 3.40.50.720 -; 2. # Genevisible Q6UVM3 HS # HGNC HGNC:18866 KCNT2 # InterPro IPR003929 K_chnl_Ca-activ_BK_asu # InterPro IPR013099 K_chnl_dom # InterPro IPR016040 NAD(P)-bd_dom # KEGG_Brite ko04040 Ion channels # MIM 610044 gene # Organism KCNT2_HUMAN Homo sapiens (Human) # PTM KCNT2_HUMAN Phosphorylated by protein kinase C. Phosphorylation of the C- terminal domain inhibits channel activity. {ECO 0000269|PubMed 16687497}. # Pfam PF03493 BK_channel_a # Pfam PF07885 Ion_trans_2 # Proteomes UP000005640 Chromosome 1 # RecName KCNT2_HUMAN Potassium channel subfamily T member 2 # RefSeq NP_001274748 NM_001287819.1. [Q6UVM3-2] # RefSeq NP_001274749 NM_001287820.1. [Q6UVM3-3] # RefSeq NP_940905 NM_198503.3. [Q6UVM3-1] # SIMILARITY Belongs to the potassium channel family. Calcium- activated (TC 1.A.1.3) subfamily. KCa4.2/KCNT2 sub-subfamily. {ECO 0000305}. # SIMILARITY Contains 1 RCK N-terminal domain. {ECO 0000305}. # SUBCELLULAR LOCATION KCNT2_HUMAN Cell membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. # SUPFAM SSF51735 SSF51735 # TCDB 1.A.1.3 the voltage-gated ion channel (vic) superfamily # UCSC uc001gtd human. [Q6UVM3-1] # eggNOG ENOG410XSMA LUCA # eggNOG KOG3193 Eukaryota BLAST swissprot:KCNT2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCNT2_HUMAN COXPRESdb 343450 http://coxpresdb.jp/data/gene/343450.shtml CleanEx HS_KCNT2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNT2 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1133427 http://dx.doi.org/10.1126/science.1133427 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 DOI 10.1523/JNEUROSCI.3372-05.2006 http://dx.doi.org/10.1523/JNEUROSCI.3372-05.2006 EMBL AK131498 http://www.ebi.ac.uk/ena/data/view/AK131498 EMBL AL138931 http://www.ebi.ac.uk/ena/data/view/AL138931 EMBL AL138931 http://www.ebi.ac.uk/ena/data/view/AL138931 EMBL AL138931 http://www.ebi.ac.uk/ena/data/view/AL138931 EMBL AL138931 http://www.ebi.ac.uk/ena/data/view/AL138931 EMBL AL138931 http://www.ebi.ac.uk/ena/data/view/AL138931 EMBL AL138931 http://www.ebi.ac.uk/ena/data/view/AL138931 EMBL AL138931 http://www.ebi.ac.uk/ena/data/view/AL138931 EMBL AL138931 http://www.ebi.ac.uk/ena/data/view/AL138931 EMBL AL139137 http://www.ebi.ac.uk/ena/data/view/AL139137 EMBL AL139137 http://www.ebi.ac.uk/ena/data/view/AL139137 EMBL AL139137 http://www.ebi.ac.uk/ena/data/view/AL139137 EMBL AL139137 http://www.ebi.ac.uk/ena/data/view/AL139137 EMBL AL139137 http://www.ebi.ac.uk/ena/data/view/AL139137 EMBL AL139137 http://www.ebi.ac.uk/ena/data/view/AL139137 EMBL AL139137 http://www.ebi.ac.uk/ena/data/view/AL139137 EMBL AL139137 http://www.ebi.ac.uk/ena/data/view/AL139137 EMBL AL358853 http://www.ebi.ac.uk/ena/data/view/AL358853 EMBL AL358853 http://www.ebi.ac.uk/ena/data/view/AL358853 EMBL AL358853 http://www.ebi.ac.uk/ena/data/view/AL358853 EMBL AL358853 http://www.ebi.ac.uk/ena/data/view/AL358853 EMBL AL358853 http://www.ebi.ac.uk/ena/data/view/AL358853 EMBL AL358853 http://www.ebi.ac.uk/ena/data/view/AL358853 EMBL AL358853 http://www.ebi.ac.uk/ena/data/view/AL358853 EMBL AL358853 http://www.ebi.ac.uk/ena/data/view/AL358853 EMBL AL591604 http://www.ebi.ac.uk/ena/data/view/AL591604 EMBL AL591604 http://www.ebi.ac.uk/ena/data/view/AL591604 EMBL AL591604 http://www.ebi.ac.uk/ena/data/view/AL591604 EMBL AL591604 http://www.ebi.ac.uk/ena/data/view/AL591604 EMBL AL591604 http://www.ebi.ac.uk/ena/data/view/AL591604 EMBL AL591604 http://www.ebi.ac.uk/ena/data/view/AL591604 EMBL AL591604 http://www.ebi.ac.uk/ena/data/view/AL591604 EMBL AL591604 http://www.ebi.ac.uk/ena/data/view/AL591604 EMBL AY359444 http://www.ebi.ac.uk/ena/data/view/AY359444 EMBL BC103948 http://www.ebi.ac.uk/ena/data/view/BC103948 EMBL BC103949 http://www.ebi.ac.uk/ena/data/view/BC103949 EMBL BC103950 http://www.ebi.ac.uk/ena/data/view/BC103950 EMBL BX647852 http://www.ebi.ac.uk/ena/data/view/BX647852 Ensembl ENST00000294725 http://www.ensembl.org/id/ENST00000294725 Ensembl ENST00000367433 http://www.ensembl.org/id/ENST00000367433 Ensembl ENST00000609185 http://www.ensembl.org/id/ENST00000609185 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0008076 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008076 GO_function GO:0005249 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005249 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0015269 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015269 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 Gene3D 3.40.50.720 http://www.cathdb.info/version/latest/superfamily/3.40.50.720 GeneCards KCNT2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNT2 GeneID 343450 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=343450 GeneTree ENSGT00530000063026 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000063026 HGNC HGNC:18866 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:18866 HOGENOM HOG000231460 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231460&db=HOGENOM6 HOVERGEN HBG055190 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG055190&db=HOVERGEN HPA HPA051218 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA051218 InParanoid Q6UVM3 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q6UVM3 InterPro IPR003929 http://www.ebi.ac.uk/interpro/entry/IPR003929 InterPro IPR013099 http://www.ebi.ac.uk/interpro/entry/IPR013099 InterPro IPR016040 http://www.ebi.ac.uk/interpro/entry/IPR016040 Jabion 343450 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=343450 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:343450 http://www.genome.jp/dbget-bin/www_bget?hsa:343450 KEGG_Orthology KO:K04947 http://www.genome.jp/dbget-bin/www_bget?KO:K04947 MIM 610044 http://www.ncbi.nlm.nih.gov/omim/610044 OMA GPRYIMS http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=GPRYIMS OrthoDB EOG091G011O http://cegg.unige.ch/orthodb/results?searchtext=EOG091G011O PSORT swissprot:KCNT2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCNT2_HUMAN PSORT-B swissprot:KCNT2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCNT2_HUMAN PSORT2 swissprot:KCNT2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCNT2_HUMAN Pfam PF03493 http://pfam.xfam.org/family/PF03493 Pfam PF07885 http://pfam.xfam.org/family/PF07885 PharmGKB PA38726 http://www.pharmgkb.org/do/serve?objId=PA38726&objCls=Gene Phobius swissprot:KCNT2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCNT2_HUMAN PhylomeDB Q6UVM3 http://phylomedb.org/?seqid=Q6UVM3 ProteinModelPortal Q6UVM3 http://www.proteinmodelportal.org/query/uniprot/Q6UVM3 PubMed 14684870 http://www.ncbi.nlm.nih.gov/pubmed/14684870 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16687497 http://www.ncbi.nlm.nih.gov/pubmed/16687497 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 16959974 http://www.ncbi.nlm.nih.gov/pubmed/16959974 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 RefSeq NP_001274748 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001274748 RefSeq NP_001274749 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001274749 RefSeq NP_940905 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_940905 STRING 9606.ENSP00000294725 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000294725&targetmode=cogs SUPFAM SSF51735 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF51735 TCDB 1.A.1.3 http://www.tcdb.org/search/result.php?tc=1.A.1.3 UCSC uc001gtd http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001gtd&org=rat UniGene Hs.657046 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.657046 UniProtKB KCNT2_HUMAN http://www.uniprot.org/uniprot/KCNT2_HUMAN UniProtKB-AC Q6UVM3 http://www.uniprot.org/uniprot/Q6UVM3 charge swissprot:KCNT2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCNT2_HUMAN eggNOG ENOG410XSMA http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XSMA eggNOG KOG3193 http://eggnogapi.embl.de/nog_data/html/tree/KOG3193 epestfind swissprot:KCNT2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCNT2_HUMAN garnier swissprot:KCNT2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCNT2_HUMAN helixturnhelix swissprot:KCNT2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCNT2_HUMAN hmoment swissprot:KCNT2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCNT2_HUMAN iep swissprot:KCNT2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCNT2_HUMAN inforesidue swissprot:KCNT2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCNT2_HUMAN neXtProt NX_Q6UVM3 http://www.nextprot.org/db/entry/NX_Q6UVM3 octanol swissprot:KCNT2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCNT2_HUMAN pepcoil swissprot:KCNT2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCNT2_HUMAN pepdigest swissprot:KCNT2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCNT2_HUMAN pepinfo swissprot:KCNT2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCNT2_HUMAN pepnet swissprot:KCNT2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCNT2_HUMAN pepstats swissprot:KCNT2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCNT2_HUMAN pepwheel swissprot:KCNT2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCNT2_HUMAN pepwindow swissprot:KCNT2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCNT2_HUMAN sigcleave swissprot:KCNT2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCNT2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS KCNQ4_HUMAN Event=Alternative splicing; Named isoforms=2; Comment=Additional isoforms seem to exist.; Name=1; IsoId=P56696-1; Sequence=Displayed; Name=2; IsoId=P56696-2; Sequence=VSP_001013; # AltName KCNQ4_HUMAN KQT-like 4 # AltName KCNQ4_HUMAN Potassium channel subunit alpha KvLQT4 # AltName KCNQ4_HUMAN Voltage-gated potassium channel subunit Kv7.4 # BioGrid 114580 6 # CCDS CCDS456 -. [P56696-1] # ChiTaRS KCNQ4 human # DISEASE KCNQ4_HUMAN Deafness, autosomal dominant, 2A (DFNA2A) [MIM 600101] A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO 0000269|PubMed 10025409, ECO 0000269|PubMed 10369879, ECO 0000269|PubMed 10571947, ECO 0000269|PubMed 10925378, ECO 0000269|PubMed 21242547}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DOMAIN KCNQ4_HUMAN The A-domain tail carries the major determinants of channel assembly specificity. Its coiled-coil region is Four- stranded. {ECO 0000269|PubMed 17329207}. # DOMAIN KCNQ4_HUMAN The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position. {ECO 0000250}. # DrugBank DB04953 Ezogabine # Ensembl ENST00000347132 ENSP00000262916; ENSG00000117013. [P56696-1] # Ensembl ENST00000509682 ENSP00000423756; ENSG00000117013. [P56696-2] # ExpressionAtlas P56696 baseline and differential # FUNCTION KCNQ4_HUMAN Probably important in the regulation of neuronal excitability. May underlie a potassium current involved in regulating the excitability of sensory cells of the cochlea. KCNQ4 channels are blocked by linopirdin, XE991 and bepridil, whereas clofilium is without significant effect. Muscarinic agonist oxotremorine-M strongly suppress KCNQ4 current in CHO cells in which cloned KCNQ4 channels were coexpressed with M1 muscarinic receptors. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0008076 voltage-gated potassium channel complex; IEA:InterPro. # GO_component GO:0009925 basal plasma membrane; IEA:UniProtKB-SubCell. # GO_component GO:0016021 integral component of membrane; IBA:GO_Central. # GO_function GO:0005251 delayed rectifier potassium channel activity; IBA:GO_Central. # GO_function GO:0005267 potassium channel activity; TAS:ProtInc. # GO_process GO:0006813 potassium ion transport; TAS:ProtInc. # GO_process GO:0007605 sensory perception of sound; TAS:ProtInc. # GO_process GO:0042472 inner ear morphogenesis; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0050877 neurological system process # Genevisible P56696 HS # HGNC HGNC:6298 KCNQ4 # InterPro IPR003937 K_chnl_volt-dep_KCNQ # InterPro IPR005821 Ion_trans_dom # InterPro IPR013821 K_chnl_volt-dep_KCNQ_C # InterPro IPR015573 KCQN4 # InterPro IPR028325 VG_K_chnl # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00604 [Nervous system disease; Nervous system disease] Deafness, autosomal dominant # KEGG_Pathway ko04725 Cholinergic synapse # MIM 600101 phenotype # MIM 603537 gene # MISCELLANEOUS Mutagenesis experiments were carried out by expressing in Xenopus oocytes KCNQ4 mutants either individually (homomultimers) or in combination with wild-type KCNQ4 (mut/wt homomultimers) in a ratio of 1 1, to mimic the situation in a heterozygous DFNA2 patient. # Organism KCNQ4_HUMAN Homo sapiens (Human) # Orphanet 90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA # PANTHER PTHR11537 PTHR11537; 3 # PANTHER PTHR11537:SF4 PTHR11537:SF4; 3 # PDB 2OVC X-ray; 2.07 A; A=610-640 # PDB 4GOW X-ray; 2.60 A; A=522-593 # PRINTS PR00169 KCHANNEL # PRINTS PR01459 KCNQCHANNEL # Pfam PF00520 Ion_trans # Pfam PF03520 KCNQ_channel # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-1296072 Voltage gated Potassium channels # RecName KCNQ4_HUMAN Potassium voltage-gated channel subfamily KQT member 4 # RefSeq NP_004691 NM_004700.3. [P56696-1] # RefSeq NP_751895 NM_172163.2. [P56696-2] # SIMILARITY Belongs to the potassium channel family. KQT (TC 1.A.1.15) subfamily. Kv7.4/KCNQ4 sub-subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION KCNQ4_HUMAN Basal cell membrane; Multi-pass membrane protein. Note=Situated at the basal membrane of cochlear outer hair cells. {ECO 0000250}. # SUBUNIT Homotetramer. May form heteromultimers with KCNQ3. {ECO:0000269|PubMed 17329207}. # TCDB 1.A.1.15 the voltage-gated ion channel (vic) superfamily # TISSUE SPECIFICITY KCNQ4_HUMAN Expressed in the outer, but not the inner, sensory hair cells of the cochlea. Slightly expressed in heart, brain and skeletal muscle. # UCSC uc001cgh human. [P56696-1] # WEB RESOURCE KCNQ4_HUMAN Name=Hereditary hearing loss homepage; Note=Gene page; URL="http //hereditaryhearingloss.org/main.aspx?c=.HHH&n=86162"; # eggNOG COG1226 LUCA # eggNOG KOG1419 Eukaryota BLAST swissprot:KCNQ4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCNQ4_HUMAN BioCyc ZFISH:ENSG00000117013-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000117013-MONOMER COXPRESdb 9132 http://coxpresdb.jp/data/gene/9132.shtml CleanEx HS_KCNQ4 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNQ4 DOI 10.1001/archoto.2010.234 http://dx.doi.org/10.1001/archoto.2010.234 DOI 10.1002/(SICI)1098-1004(199912)14:6<493::AID-HUMU8>3.0.CO http://dx.doi.org/10.1002/(SICI)1098-1004(199912)14:6<493::AID-HUMU8>3.0.CO DOI 10.1002/1096-8628(20000731)93:3<184::AID-AJMG4>3.0.CO http://dx.doi.org/10.1002/1096-8628(20000731)93:3<184::AID-AJMG4>3.0.CO DOI 10.1016/S0092-8674(00)80556-5 http://dx.doi.org/10.1016/S0092-8674(00)80556-5 DOI 10.1016/j.neuron.2007.02.010 http://dx.doi.org/10.1016/j.neuron.2007.02.010 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1093/hmg/8.7.1321 http://dx.doi.org/10.1093/hmg/8.7.1321 DOI 10.1111/j.1469-7793.2000.t01-2-00349.x http://dx.doi.org/10.1111/j.1469-7793.2000.t01-2-00349.x DrugBank DB04953 http://www.drugbank.ca/drugs/DB04953 EMBL AC119677 http://www.ebi.ac.uk/ena/data/view/AC119677 EMBL AF105202 http://www.ebi.ac.uk/ena/data/view/AF105202 EMBL AF105203 http://www.ebi.ac.uk/ena/data/view/AF105203 EMBL AF105204 http://www.ebi.ac.uk/ena/data/view/AF105204 EMBL AF105205 http://www.ebi.ac.uk/ena/data/view/AF105205 EMBL AF105206 http://www.ebi.ac.uk/ena/data/view/AF105206 EMBL AF105207 http://www.ebi.ac.uk/ena/data/view/AF105207 EMBL AF105208 http://www.ebi.ac.uk/ena/data/view/AF105208 EMBL AF105209 http://www.ebi.ac.uk/ena/data/view/AF105209 EMBL AF105210 http://www.ebi.ac.uk/ena/data/view/AF105210 EMBL AF105211 http://www.ebi.ac.uk/ena/data/view/AF105211 EMBL AF105212 http://www.ebi.ac.uk/ena/data/view/AF105212 EMBL AF105213 http://www.ebi.ac.uk/ena/data/view/AF105213 EMBL AF105214 http://www.ebi.ac.uk/ena/data/view/AF105214 EMBL AF105215 http://www.ebi.ac.uk/ena/data/view/AF105215 EMBL AF105216 http://www.ebi.ac.uk/ena/data/view/AF105216 Ensembl ENST00000347132 http://www.ensembl.org/id/ENST00000347132 Ensembl ENST00000509682 http://www.ensembl.org/id/ENST00000509682 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0008076 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008076 GO_component GO:0009925 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009925 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005251 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005251 GO_function GO:0005267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005267 GO_process GO:0006813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006813 GO_process GO:0007605 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007605 GO_process GO:0042472 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042472 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GeneCards KCNQ4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNQ4 GeneID 9132 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=9132 GeneTree ENSGT00550000074513 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074513 H-InvDB HIX0200020 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0200020 HGNC HGNC:6298 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6298 HOGENOM HOG000220839 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000220839&db=HOGENOM6 HOVERGEN HBG059014 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG059014&db=HOVERGEN HPA HPA018305 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA018305 InParanoid P56696 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P56696 InterPro IPR003937 http://www.ebi.ac.uk/interpro/entry/IPR003937 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR013821 http://www.ebi.ac.uk/interpro/entry/IPR013821 InterPro IPR015573 http://www.ebi.ac.uk/interpro/entry/IPR015573 InterPro IPR028325 http://www.ebi.ac.uk/interpro/entry/IPR028325 Jabion 9132 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=9132 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00604 http://www.genome.jp/dbget-bin/www_bget?H00604 KEGG_Gene hsa:9132 http://www.genome.jp/dbget-bin/www_bget?hsa:9132 KEGG_Orthology KO:K04929 http://www.genome.jp/dbget-bin/www_bget?KO:K04929 KEGG_Pathway ko04725 http://www.genome.jp/kegg-bin/show_pathway?ko04725 MIM 600101 http://www.ncbi.nlm.nih.gov/omim/600101 MIM 603537 http://www.ncbi.nlm.nih.gov/omim/603537 OMA WAFVYHV http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=WAFVYHV Orphanet 90635 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=90635 OrthoDB EOG091G02ZT http://cegg.unige.ch/orthodb/results?searchtext=EOG091G02ZT PANTHER PTHR11537 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11537 PANTHER PTHR11537:SF4 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11537:SF4 PDB 2OVC http://www.ebi.ac.uk/pdbe-srv/view/entry/2OVC PDB 4GOW http://www.ebi.ac.uk/pdbe-srv/view/entry/4GOW PDBsum 2OVC http://www.ebi.ac.uk/pdbsum/2OVC PDBsum 4GOW http://www.ebi.ac.uk/pdbsum/4GOW PRINTS PR00169 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00169 PRINTS PR01459 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01459 PSORT swissprot:KCNQ4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCNQ4_HUMAN PSORT-B swissprot:KCNQ4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCNQ4_HUMAN PSORT2 swissprot:KCNQ4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCNQ4_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF03520 http://pfam.xfam.org/family/PF03520 PharmGKB PA30076 http://www.pharmgkb.org/do/serve?objId=PA30076&objCls=Gene Phobius swissprot:KCNQ4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCNQ4_HUMAN PhylomeDB P56696 http://phylomedb.org/?seqid=P56696 ProteinModelPortal P56696 http://www.proteinmodelportal.org/query/uniprot/P56696 PubMed 10025409 http://www.ncbi.nlm.nih.gov/pubmed/10025409 PubMed 10369879 http://www.ncbi.nlm.nih.gov/pubmed/10369879 PubMed 10571947 http://www.ncbi.nlm.nih.gov/pubmed/10571947 PubMed 10713961 http://www.ncbi.nlm.nih.gov/pubmed/10713961 PubMed 10925378 http://www.ncbi.nlm.nih.gov/pubmed/10925378 PubMed 11245603 http://www.ncbi.nlm.nih.gov/pubmed/11245603 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 17329207 http://www.ncbi.nlm.nih.gov/pubmed/17329207 PubMed 21242547 http://www.ncbi.nlm.nih.gov/pubmed/21242547 Reactome R-HSA-1296072 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1296072 RefSeq NP_004691 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004691 RefSeq NP_751895 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_751895 SMR P56696 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P56696 STRING 9606.ENSP00000262916 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000262916&targetmode=cogs TCDB 1.A.1.15 http://www.tcdb.org/search/result.php?tc=1.A.1.15 UCSC uc001cgh http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001cgh&org=rat UniGene Hs.473058 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.473058 UniProtKB KCNQ4_HUMAN http://www.uniprot.org/uniprot/KCNQ4_HUMAN UniProtKB-AC P56696 http://www.uniprot.org/uniprot/P56696 charge swissprot:KCNQ4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCNQ4_HUMAN eggNOG COG1226 http://eggnogapi.embl.de/nog_data/html/tree/COG1226 eggNOG KOG1419 http://eggnogapi.embl.de/nog_data/html/tree/KOG1419 epestfind swissprot:KCNQ4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCNQ4_HUMAN garnier swissprot:KCNQ4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCNQ4_HUMAN helixturnhelix swissprot:KCNQ4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCNQ4_HUMAN hmoment swissprot:KCNQ4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCNQ4_HUMAN iep swissprot:KCNQ4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCNQ4_HUMAN inforesidue swissprot:KCNQ4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCNQ4_HUMAN neXtProt NX_P56696 http://www.nextprot.org/db/entry/NX_P56696 octanol swissprot:KCNQ4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCNQ4_HUMAN pepcoil swissprot:KCNQ4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCNQ4_HUMAN pepdigest swissprot:KCNQ4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCNQ4_HUMAN pepinfo swissprot:KCNQ4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCNQ4_HUMAN pepnet swissprot:KCNQ4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCNQ4_HUMAN pepstats swissprot:KCNQ4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCNQ4_HUMAN pepwheel swissprot:KCNQ4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCNQ4_HUMAN pepwindow swissprot:KCNQ4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCNQ4_HUMAN sigcleave swissprot:KCNQ4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCNQ4_HUMAN ## Database ID URL or Descriptions # AltName SO4C1_HUMAN OATP-H # AltName SO4C1_HUMAN Organic anion transporter M1 # AltName SO4C1_HUMAN Solute carrier family 21 member 20 # BIOPHYSICOCHEMICAL PROPERTIES SO4C1_HUMAN Kinetic parameters KM=7.8 uM for digoxin {ECO 0000269|PubMed 14993604}; KM=0.38 uM for ouabain {ECO 0000269|PubMed 14993604}; KM=5.9 uM for thyroxine {ECO 0000269|PubMed 14993604}; # BioGrid 131662 2 # CDD cd06174 MFS # DrugBank DB00279 Liothyronine # DrugBank DB00390 Digoxin # DrugBank DB00451 Levothyroxine # DrugBank DB00509 Dextrothyroxine # DrugBank DB00563 Methotrexate # DrugBank DB01092 Ouabain # DrugBank DB01396 Digitoxin # DrugBank DB01583 Liotrix # DrugBank DB06335 Saxagliptin # Ensembl ENST00000310954 ENSP00000309741; ENSG00000173930 # FUNCTION SO4C1_HUMAN Organic anion transporter, capable of transporting pharmacological substances such as digoxin, ouabain, thyroxine, methotrexate and cAMP. May participate in the regulation of membrane transport of ouabain. Involved in the uptake of the dipeptidyl peptidase-4 inhibitor sitagliptin and hence may play a role in its transport into and out of renal proximal tubule cells. May be involved in the first step of the transport pathway of digoxin and various compounds into the urine in the kidney. May be involved in sperm maturation by enabling directed movement of organic anions and compounds within or between cells. This ion- transporting process is important to maintain the strict epididymal homeostasis necessary for sperm maturation. May have a role in secretory functions since seminal vesicle epithelial cells are assumed to secrete proteins involved in decapacitation by modifying surface proteins to facilitate the acquisition of the ability to fertilize the egg. {ECO 0000250|UniProtKB Q8BGD4, ECO 0000269|PubMed 14993604, ECO 0000269|PubMed 17314201}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0016323 basolateral plasma membrane; IEA:UniProtKB-SubCell. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0015347 sodium-independent organic anion transmembrane transporter activity; IBA:GO_Central. # GO_process GO:0007275 multicellular organism development; IEA:UniProtKB-KW. # GO_process GO:0007283 spermatogenesis; IEA:UniProtKB-KW. # GO_process GO:0030154 cell differentiation; IEA:UniProtKB-KW. # GO_process GO:0043252 sodium-independent organic anion transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0030154 cell differentiation # GOslim_process GO:0048856 anatomical structure development # Genevisible Q6ZQN7 HS # HGNC HGNC:23612 SLCO4C1 # InterPro IPR002350 Kazal_dom # InterPro IPR004156 OA_transporter # InterPro IPR020846 MFS_dom # KEGG_Brite ko02001 Solute carrier family # MIM 609013 gene # MISCELLANEOUS SLCO4C1-mediated digoxin uptake is inhibited by digoxin itself and related compounds such as ouabain, digitoxin and digoxigenin. {ECO:0000269|PubMed 14993604}. # Organism SO4C1_HUMAN Homo sapiens (Human) # PANTHER PTHR11388 PTHR11388 # PROSITE PS50850 MFS # PROSITE PS51465 KAZAL_2 # Pfam PF03137 OATP # Pfam PF07648 Kazal_2 # Proteomes UP000005640 Chromosome 5 # Reactome R-HSA-6798695 Neutrophil degranulation # Reactome R-HSA-879518 Transport of organic anions # RecName SO4C1_HUMAN Solute carrier organic anion transporter family member 4C1 # RefSeq NP_851322 NM_180991.4 # SIMILARITY Belongs to the organo anion transporter (TC 2.A.60) family. {ECO 0000255}. # SIMILARITY Contains 1 Kazal-like domain. {ECO:0000255|PROSITE- ProRule PRU00798}. # SUBCELLULAR LOCATION SO4C1_HUMAN Basolateral cell membrane {ECO 0000250|UniProtKB Q71MB6}; Multi-pass membrane protein {ECO 0000250|UniProtKB Q71MB6}. Note=Detected at the basolateral membrane of the proximal tubule cell in the kidney. {ECO 0000250|UniProtKB Q71MB6}. # SUPFAM SSF103473 SSF103473; 3 # TCDB 2.A.60.1.11 the organo anion transporter (oat) family # TIGRFAMs TIGR00805 oat # TISSUE SPECIFICITY Predominantly expressed in kidney but also weakly expressed in both fetal liver and kidney. {ECO:0000269|PubMed 14993604}. # UCSC uc003knm human # eggNOG ENOG410XRSF LUCA # eggNOG KOG3626 Eukaryota BLAST swissprot:SO4C1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SO4C1_HUMAN COXPRESdb 353189 http://coxpresdb.jp/data/gene/353189.shtml CleanEx HS_SLCO4C1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLCO4C1 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.0304987101 http://dx.doi.org/10.1073/pnas.0304987101 DOI 10.1124/jpet.106.116517 http://dx.doi.org/10.1124/jpet.106.116517 DrugBank DB00279 http://www.drugbank.ca/drugs/DB00279 DrugBank DB00390 http://www.drugbank.ca/drugs/DB00390 DrugBank DB00451 http://www.drugbank.ca/drugs/DB00451 DrugBank DB00509 http://www.drugbank.ca/drugs/DB00509 DrugBank DB00563 http://www.drugbank.ca/drugs/DB00563 DrugBank DB01092 http://www.drugbank.ca/drugs/DB01092 DrugBank DB01396 http://www.drugbank.ca/drugs/DB01396 DrugBank DB01583 http://www.drugbank.ca/drugs/DB01583 DrugBank DB06335 http://www.drugbank.ca/drugs/DB06335 EMBL AF401643 http://www.ebi.ac.uk/ena/data/view/AF401643 EMBL AK128854 http://www.ebi.ac.uk/ena/data/view/AK128854 EMBL AY273896 http://www.ebi.ac.uk/ena/data/view/AY273896 EMBL CH471086 http://www.ebi.ac.uk/ena/data/view/CH471086 Ensembl ENST00000310954 http://www.ensembl.org/id/ENST00000310954 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016323 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0015347 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015347 GO_process GO:0007275 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007275 GO_process GO:0007283 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007283 GO_process GO:0030154 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030154 GO_process GO:0043252 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043252 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0030154 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030154 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GeneCards SLCO4C1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLCO4C1 GeneID 353189 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=353189 GeneTree ENSGT00760000119014 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119014 H-InvDB HIX0024798 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0024798 HGNC HGNC:23612 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:23612 HOGENOM HOG000231270 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231270&db=HOGENOM6 HOVERGEN HBG100565 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG100565&db=HOVERGEN HPA HPA036516 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA036516 InParanoid Q6ZQN7 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q6ZQN7 IntAct Q6ZQN7 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q6ZQN7* InterPro IPR002350 http://www.ebi.ac.uk/interpro/entry/IPR002350 InterPro IPR004156 http://www.ebi.ac.uk/interpro/entry/IPR004156 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 353189 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=353189 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:353189 http://www.genome.jp/dbget-bin/www_bget?hsa:353189 KEGG_Orthology KO:K14355 http://www.genome.jp/dbget-bin/www_bget?KO:K14355 MIM 609013 http://www.ncbi.nlm.nih.gov/omim/609013 OMA VFTFMAG http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=VFTFMAG OrthoDB EOG091G02FX http://cegg.unige.ch/orthodb/results?searchtext=EOG091G02FX PANTHER PTHR11388 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11388 PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PROSITE PS51465 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51465 PSORT swissprot:SO4C1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SO4C1_HUMAN PSORT-B swissprot:SO4C1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SO4C1_HUMAN PSORT2 swissprot:SO4C1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SO4C1_HUMAN Pfam PF03137 http://pfam.xfam.org/family/PF03137 Pfam PF07648 http://pfam.xfam.org/family/PF07648 PharmGKB PA134892408 http://www.pharmgkb.org/do/serve?objId=PA134892408&objCls=Gene Phobius swissprot:SO4C1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SO4C1_HUMAN PhylomeDB Q6ZQN7 http://phylomedb.org/?seqid=Q6ZQN7 ProteinModelPortal Q6ZQN7 http://www.proteinmodelportal.org/query/uniprot/Q6ZQN7 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 14993604 http://www.ncbi.nlm.nih.gov/pubmed/14993604 PubMed 17314201 http://www.ncbi.nlm.nih.gov/pubmed/17314201 Reactome R-HSA-6798695 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6798695 Reactome R-HSA-879518 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-879518 RefSeq NP_851322 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_851322 STRING 9606.ENSP00000309741 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000309741&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.60.1.11 http://www.tcdb.org/search/result.php?tc=2.A.60.1.11 TIGRFAMs TIGR00805 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00805 UCSC uc003knm http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003knm&org=rat UniGene Hs.127648 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.127648 UniProtKB SO4C1_HUMAN http://www.uniprot.org/uniprot/SO4C1_HUMAN UniProtKB-AC Q6ZQN7 http://www.uniprot.org/uniprot/Q6ZQN7 charge swissprot:SO4C1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SO4C1_HUMAN eggNOG ENOG410XRSF http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XRSF eggNOG KOG3626 http://eggnogapi.embl.de/nog_data/html/tree/KOG3626 epestfind swissprot:SO4C1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SO4C1_HUMAN garnier swissprot:SO4C1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SO4C1_HUMAN helixturnhelix swissprot:SO4C1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SO4C1_HUMAN hmoment swissprot:SO4C1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SO4C1_HUMAN iep swissprot:SO4C1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SO4C1_HUMAN inforesidue swissprot:SO4C1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SO4C1_HUMAN neXtProt NX_Q6ZQN7 http://www.nextprot.org/db/entry/NX_Q6ZQN7 octanol swissprot:SO4C1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SO4C1_HUMAN pepcoil swissprot:SO4C1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SO4C1_HUMAN pepdigest swissprot:SO4C1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SO4C1_HUMAN pepinfo swissprot:SO4C1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SO4C1_HUMAN pepnet swissprot:SO4C1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SO4C1_HUMAN pepstats swissprot:SO4C1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SO4C1_HUMAN pepwheel swissprot:SO4C1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SO4C1_HUMAN pepwindow swissprot:SO4C1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SO4C1_HUMAN sigcleave swissprot:SO4C1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SO4C1_HUMAN ## Database ID URL or Descriptions # AltName SC5A7_HUMAN Hemicholinium-3-sensitive choline transporter # AltName SC5A7_HUMAN Solute carrier family 5 member 7 # BioGrid 121915 2 # DISEASE SC5A7_HUMAN Neuronopathy, distal hereditary motor, 7A (HMN7A) [MIM 158580] A neuromuscular disorder. Distal hereditary motor neuronopathies constitute a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs. HMN7A is characterized by onset in the second decade of progressive distal muscle wasting and weakness affecting the upper and lower limbs and resulting in walking difficulties and hand grip. There is significant muscle atrophy of the hands and lower limbs. The disorder is associated with vocal cord paresis due to involvement of the tenth cranial nerve. {ECO 0000269|PubMed 23141292}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DrugBank DB00122 Choline # Ensembl ENST00000264047 ENSP00000264047; ENSG00000115665 # Ensembl ENST00000409059 ENSP00000387346; ENSG00000115665 # FUNCTION SC5A7_HUMAN Imports choline from the extracellular space to the neuron with high affinity. Choline uptake is the rate-limiting step in acetylcholine synthesis. Sodium ion- and chloride ion- dependent. {ECO 0000269|PubMed 11027560}. # GO_component GO:0005886 plasma membrane; IDA:MGI. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0016021 integral component of membrane; IDA:UniProtKB. # GO_component GO:0030424 axon; IBA:GO_Central. # GO_component GO:0030425 dendrite; IBA:GO_Central. # GO_component GO:0043204 perikaryon; IBA:GO_Central. # GO_component GO:0045202 synapse; IBA:GO_Central. # GO_component GO:0098793 presynapse; IEA:GOC. # GO_function GO:0015220 choline transmembrane transporter activity; IMP:UniProtKB. # GO_function GO:0033265 choline binding; IBA:GO_Central. # GO_function SC5A7_HUMAN GO 0005307 choline sodium symporter activity; IMP MGI. # GO_process GO:0007269 neurotransmitter secretion; TAS:Reactome. # GO_process GO:0007271 synaptic transmission, cholinergic; IBA:GO_Central. # GO_process GO:0007274 neuromuscular synaptic transmission; IBA:GO_Central. # GO_process GO:0008292 acetylcholine biosynthetic process; IMP:UniProtKB. # GO_process GO:0055085 transmembrane transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0055085 transmembrane transport # Genevisible Q9GZV3 HS # HGNC HGNC:14025 SLC5A7 # InterPro IPR001734 Na/solute_symporter # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02001 Solute carrier family # KEGG_Pathway ko04725 Cholinergic synapse # MIM 158580 phenotype # MIM 608761 gene # MISCELLANEOUS SC5A7_HUMAN Specifically inhibited by nanomolar concentrations of hemicholinium 3. # Organism SC5A7_HUMAN Homo sapiens (Human) # Orphanet 139589 Distal hereditary motor neuropathy type 7 # PANTHER PTHR11819 PTHR11819 # PIR JC7502 JC7502 # PROSITE PS50283 NA_SOLUT_SYMP_3 # PTM SC5A7_HUMAN Phosphorylated. {ECO 0000250}. # Pfam PF00474 SSF # Proteomes UP000005640 Chromosome 2 # Reactome R-HSA-264642 Acetylcholine Neurotransmitter Release Cycle # Reactome R-HSA-425366 Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds # RecName SC5A7_HUMAN High affinity choline transporter 1 # RefSeq NP_001291934 NM_001305005.2 # RefSeq NP_068587 NM_021815.4 # SIMILARITY Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family. {ECO 0000305}. # SUBCELLULAR LOCATION SC5A7_HUMAN Membrane {ECO 0000269|PubMed 11027560}; Multi-pass membrane protein {ECO 0000269|PubMed 11027560}. # SUBUNIT SC5A7_HUMAN Homooligomerizes at cell surface (PubMed 23132865). Interacts with SEC14L1; may regulate SLC5A7 (PubMed 17092608). {ECO 0000269|PubMed 17092608, ECO 0000269|PubMed 23132865}. # TCDB 2.A.21.8:the solute sodium symporter (sss) family # TISSUE SPECIFICITY SC5A7_HUMAN Expressed in putamen, spinal cord and medulla. Specific for cholinergic neurons. # UCSC uc002tdv human # eggNOG COG0591 LUCA # eggNOG KOG3761 Eukaryota BLAST swissprot:SC5A7_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SC5A7_HUMAN BioCyc ZFISH:ENSG00000115665-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000115665-MONOMER COXPRESdb 60482 http://coxpresdb.jp/data/gene/60482.shtml CleanEx HS_SLC5A7 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC5A7 DOI 10.1006/bbrc.2000.3561 http://dx.doi.org/10.1006/bbrc.2000.3561 DOI 10.1016/S0014-5793(00)02134-7 http://dx.doi.org/10.1016/S0014-5793(00)02134-7 DOI 10.1016/j.ajhg.2012.09.019 http://dx.doi.org/10.1016/j.ajhg.2012.09.019 DOI 10.1016/j.neuint.2006.09.010 http://dx.doi.org/10.1016/j.neuint.2006.09.010 DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1074/jbc.M112.405027 http://dx.doi.org/10.1074/jbc.M112.405027 DOI 10.1074/jbc.M207742200 http://dx.doi.org/10.1074/jbc.M207742200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DrugBank DB00122 http://www.drugbank.ca/drugs/DB00122 EMBL AB043997 http://www.ebi.ac.uk/ena/data/view/AB043997 EMBL AC009963 http://www.ebi.ac.uk/ena/data/view/AC009963 EMBL AF276871 http://www.ebi.ac.uk/ena/data/view/AF276871 EMBL AJ308378 http://www.ebi.ac.uk/ena/data/view/AJ308378 EMBL AJ308379 http://www.ebi.ac.uk/ena/data/view/AJ308379 EMBL AJ308380 http://www.ebi.ac.uk/ena/data/view/AJ308380 EMBL AJ308381 http://www.ebi.ac.uk/ena/data/view/AJ308381 EMBL AJ308382 http://www.ebi.ac.uk/ena/data/view/AJ308382 EMBL AJ308383 http://www.ebi.ac.uk/ena/data/view/AJ308383 EMBL AJ308384 http://www.ebi.ac.uk/ena/data/view/AJ308384 EMBL AJ401466 http://www.ebi.ac.uk/ena/data/view/AJ401466 EMBL BC111525 http://www.ebi.ac.uk/ena/data/view/BC111525 Ensembl ENST00000264047 http://www.ensembl.org/id/ENST00000264047 Ensembl ENST00000409059 http://www.ensembl.org/id/ENST00000409059 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0030424 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030424 GO_component GO:0030425 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030425 GO_component GO:0043204 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043204 GO_component GO:0045202 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045202 GO_component GO:0098793 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0098793 GO_function GO:0005307 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005307 GO_function GO:0015220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015220 GO_function GO:0033265 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033265 GO_process GO:0007269 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007269 GO_process GO:0007271 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007271 GO_process GO:0007274 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007274 GO_process GO:0008292 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008292 GO_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC5A7 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC5A7 GeneID 60482 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=60482 GeneTree ENSGT00690000101915 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00690000101915 HGNC HGNC:14025 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:14025 HOGENOM HOG000016386 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000016386&db=HOGENOM6 HOVERGEN HBG054160 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG054160&db=HOVERGEN HPA HPA046105 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA046105 InParanoid Q9GZV3 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9GZV3 InterPro IPR001734 http://www.ebi.ac.uk/interpro/entry/IPR001734 Jabion 60482 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=60482 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:60482 http://www.genome.jp/dbget-bin/www_bget?hsa:60482 KEGG_Orthology KO:K14387 http://www.genome.jp/dbget-bin/www_bget?KO:K14387 KEGG_Pathway ko04725 http://www.genome.jp/kegg-bin/show_pathway?ko04725 MIM 158580 http://www.ncbi.nlm.nih.gov/omim/158580 MIM 608761 http://www.ncbi.nlm.nih.gov/omim/608761 OMA HAKYQKP http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=HAKYQKP Orphanet 139589 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=139589 OrthoDB EOG091G050W http://cegg.unige.ch/orthodb/results?searchtext=EOG091G050W PANTHER PTHR11819 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11819 PROSITE PS50283 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50283 PSORT swissprot:SC5A7_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SC5A7_HUMAN PSORT-B swissprot:SC5A7_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SC5A7_HUMAN PSORT2 swissprot:SC5A7_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SC5A7_HUMAN Pfam PF00474 http://pfam.xfam.org/family/PF00474 PharmGKB PA37838 http://www.pharmgkb.org/do/serve?objId=PA37838&objCls=Gene Phobius swissprot:SC5A7_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SC5A7_HUMAN PhylomeDB Q9GZV3 http://phylomedb.org/?seqid=Q9GZV3 ProteinModelPortal Q9GZV3 http://www.proteinmodelportal.org/query/uniprot/Q9GZV3 PubMed 11027560 http://www.ncbi.nlm.nih.gov/pubmed/11027560 PubMed 11068039 http://www.ncbi.nlm.nih.gov/pubmed/11068039 PubMed 12237312 http://www.ncbi.nlm.nih.gov/pubmed/12237312 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 PubMed 17092608 http://www.ncbi.nlm.nih.gov/pubmed/17092608 PubMed 23132865 http://www.ncbi.nlm.nih.gov/pubmed/23132865 PubMed 23141292 http://www.ncbi.nlm.nih.gov/pubmed/23141292 Reactome R-HSA-264642 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-264642 Reactome R-HSA-425366 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-425366 RefSeq NP_001291934 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001291934 RefSeq NP_068587 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_068587 STRING 9606.ENSP00000264047 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000264047&targetmode=cogs TCDB 2.A.21.8 http://www.tcdb.org/search/result.php?tc=2.A.21.8 UCSC uc002tdv http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002tdv&org=rat UniGene Hs.287758 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.287758 UniProtKB SC5A7_HUMAN http://www.uniprot.org/uniprot/SC5A7_HUMAN UniProtKB-AC Q9GZV3 http://www.uniprot.org/uniprot/Q9GZV3 charge swissprot:SC5A7_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SC5A7_HUMAN eggNOG COG0591 http://eggnogapi.embl.de/nog_data/html/tree/COG0591 eggNOG KOG3761 http://eggnogapi.embl.de/nog_data/html/tree/KOG3761 epestfind swissprot:SC5A7_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SC5A7_HUMAN garnier swissprot:SC5A7_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SC5A7_HUMAN helixturnhelix swissprot:SC5A7_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SC5A7_HUMAN hmoment swissprot:SC5A7_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SC5A7_HUMAN iep swissprot:SC5A7_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SC5A7_HUMAN inforesidue swissprot:SC5A7_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SC5A7_HUMAN neXtProt NX_Q9GZV3 http://www.nextprot.org/db/entry/NX_Q9GZV3 octanol swissprot:SC5A7_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SC5A7_HUMAN pepcoil swissprot:SC5A7_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SC5A7_HUMAN pepdigest swissprot:SC5A7_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SC5A7_HUMAN pepinfo swissprot:SC5A7_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SC5A7_HUMAN pepnet swissprot:SC5A7_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SC5A7_HUMAN pepstats swissprot:SC5A7_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SC5A7_HUMAN pepwheel swissprot:SC5A7_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SC5A7_HUMAN pepwindow swissprot:SC5A7_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SC5A7_HUMAN sigcleave swissprot:SC5A7_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SC5A7_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS KCNA5_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P22460-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=P22460-2; Sequence=VSP_037110; # AltName KCNA5_HUMAN HPCN1 # AltName KCNA5_HUMAN Voltage-gated potassium channel HK2 # AltName KCNA5_HUMAN Voltage-gated potassium channel subunit Kv1.5 # BioGrid 109943 55 # CCDS CCDS8536 -. [P22460-1] # DISEASE KCNA5_HUMAN Atrial fibrillation, familial, 7 (ATFB7) [MIM 612240] A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. {ECO 0000269|PubMed 16772329}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DOMAIN KCNA5_HUMAN The amino terminus may be important in determining the rate of inactivation of the channel while the C-terminal PDZ- binding motif may play a role in modulation of channel activity and/or targeting of the channel to specific subcellular compartments. # DOMAIN KCNA5_HUMAN The transmembrane segment S4 functions as voltage-sensor and is characterized by a series of positively charged amino acids at every third position. Channel opening and closing is effected by a conformation change that affects the position and orientation of the voltage-sensor paddle formed by S3 and S4 within the membrane. A transmembrane electric field that is positive inside would push the positively charged S4 segment outwards, thereby opening the pore, while a field that is negative inside would pull the S4 segment inwards and close the pore. Changes in the position and orientation of S4 are then transmitted to the activation gate formed by the inner helix bundle via the S4-S5 linker region. {ECO 0000250|UniProtKB P63142}. # DrugBank DB06637 Dalfampridine # Ensembl ENST00000252321 ENSP00000252321; ENSG00000130037. [P22460-1] # FUNCTION KCNA5_HUMAN Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes. Forms tetrameric potassium-selective channels through which potassium ions pass in accordance with their electrochemical gradient. The channel alternates between opened and closed conformations in response to the voltage difference across the membrane. Can form functional homotetrameric channels and heterotetrameric channels that contain variable proportions of KCNA1, KCNA2, KCNA4, KCNA5, and possibly other family members as well; channel properties depend on the type of alpha subunits that are part of the channel (PubMed 12130714). Channel properties are modulated by cytoplasmic beta subunits that regulate the subcellular location of the alpha subunits and promote rapid inactivation (PubMed 12130714). Homotetrameric channels display rapid activation and slow inactivation (PubMed 8505626, PubMed 12130714). May play a role in regulating the secretion of insulin in normal pancreatic islets. Isoform 2 exhibits a voltage-dependent recovery from inactivation and an excessive cumulative inactivation (PubMed 11524461). {ECO 0000269|PubMed 11524461, ECO 0000269|PubMed 12130714, ECO 0000269|PubMed 8505626}. # GO_component GO:0005783 endoplasmic reticulum; IEA:Ensembl. # GO_component GO:0005794 Golgi apparatus; IDA:UniProtKB. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0005887 integral component of plasma membrane; IDA:UniProtKB. # GO_component GO:0008076 voltage-gated potassium channel complex; IDA:BHF-UCL. # GO_component GO:0014704 intercalated disc; IDA:BHF-UCL. # GO_component GO:0030018 Z disc; IEA:Ensembl. # GO_component GO:0034705 potassium channel complex; IDA:UniProtKB. # GO_component GO:0045121 membrane raft; IDA:BHF-UCL. # GO_component GO:0046691 intracellular canaliculus; IEA:Ensembl. # GO_component GO:0048471 perinuclear region of cytoplasm; IEA:Ensembl. # GO_function GO:0005251 delayed rectifier potassium channel activity; IDA:UniProtKB. # GO_function GO:0015271 outward rectifier potassium channel activity; IDA:BHF-UCL. # GO_function GO:0019870 potassium channel inhibitor activity; IEA:Ensembl. # GO_function GO:0019901 protein kinase binding; IPI:BHF-UCL. # GO_function GO:0051393 alpha-actinin binding; IPI:BHF-UCL. # GO_function GO:0086087 voltage-gated potassium channel activity involved in bundle of His cell action potential repolarization; IMP:BHF-UCL. # GO_function GO:0086089 voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization; IMP:BHF-UCL. # GO_function GO:0086090 voltage-gated potassium channel activity involved in SA node cell action potential repolarization; IMP:BHF-UCL. # GO_function GO:0097110 scaffold protein binding; IPI:BHF-UCL. # GO_process GO:0001666 response to hypoxia; IEA:Ensembl. # GO_process GO:0006813 potassium ion transport; IDA:MGI. # GO_process GO:0007219 Notch signaling pathway; IEA:Ensembl. # GO_process GO:0009612 response to mechanical stimulus; IEA:Ensembl. # GO_process GO:0010033 response to organic substance; IEA:Ensembl. # GO_process GO:0019229 regulation of vasoconstriction; IEA:Ensembl. # GO_process GO:0042391 regulation of membrane potential; IDA:BHF-UCL. # GO_process GO:0042542 response to hydrogen peroxide; IEA:Ensembl. # GO_process GO:0043266 regulation of potassium ion transport; IMP:BHF-UCL. # GO_process GO:0043267 negative regulation of potassium ion transport; IEA:Ensembl. # GO_process GO:0050796 regulation of insulin secretion; TAS:BHF-UCL. # GO_process GO:0051260 protein homooligomerization; IEA:InterPro. # GO_process GO:0051481 negative regulation of cytosolic calcium ion concentration; IEA:Ensembl. # GO_process GO:0055075 potassium ion homeostasis; IEA:Ensembl. # GO_process GO:0055093 response to hyperoxia; IEA:Ensembl. # GO_process GO:0060081 membrane hyperpolarization; IMP:BHF-UCL. # GO_process GO:0060372 regulation of atrial cardiac muscle cell membrane repolarization; IMP:BHF-UCL. # GO_process GO:0071435 potassium ion export; IDA:BHF-UCL. # GO_process GO:0071805 potassium ion transmembrane transport; IDA:UniProtKB. # GO_process GO:0086014 atrial cardiac muscle cell action potential; IMP:BHF-UCL. # GO_process GO:0086050 membrane repolarization during bundle of His cell action potential; IMP:BHF-UCL. # GO_process GO:0086052 membrane repolarization during SA node cell action potential; IMP:BHF-UCL. # GO_process GO:0086091 regulation of heart rate by cardiac conduction; IMP:BHF-UCL. # GO_process GO:1900087 positive regulation of G1/S transition of mitotic cell cycle; IEA:Ensembl. # GO_process GO:2000288 positive regulation of myoblast proliferation; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_component GO:0005794 Golgi apparatus # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0008092 cytoskeletal protein binding # GOslim_function GO:0019899 enzyme binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0003013 circulatory system process # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.20.120.350 -; 1. # Genevisible P22460 HS # HGNC HGNC:6224 KCNA5 # INTERACTION KCNA5_HUMAN P35609 ACTN2; NbExp=6; IntAct=EBI-6426121, EBI-77797; # IntAct P22460 2 # InterPro IPR000210 BTB/POZ_dom # InterPro IPR003131 T1-type_BTB # InterPro IPR003968 K_chnl_volt-dep_Kv # InterPro IPR003972 K_chnl_volt-dep_Kv1 # InterPro IPR004052 K_chnl_volt-dep_Kv1.5 # InterPro IPR005821 Ion_trans_dom # InterPro IPR011333 SKP1/BTB/POZ # InterPro IPR027359 Channel_four-helix_dom # InterPro IPR028325 VG_K_chnl # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00731 [Cardiovascular disease] Atrial fibrillation # MIM 176267 gene # MIM 612240 phenotype # Organism KCNA5_HUMAN Homo sapiens (Human) # Orphanet 334 Familial atrial fibrillation # PANTHER PTHR11537 PTHR11537; 2 # PANTHER PTHR11537:SF25 PTHR11537:SF25; 2 # PIR A56031 A56031 # PRINTS PR00169 KCHANNEL # PRINTS PR01491 KVCHANNEL # PRINTS PR01496 SHAKERCHANEL # PRINTS PR01512 KV15CHANNEL # PTM KCNA5_HUMAN Sumoylated on Lys-221, and Lys-536, preferentially with SUMO3. Sumoylation regulates the voltage sensitivity of the channel. {ECO 0000269|PubMed 17261810}. # Pfam PF00520 Ion_trans # Pfam PF02214 BTB_2 # Proteomes UP000005640 Chromosome 12 # Reactome R-HSA-1296072 Voltage gated Potassium channels # RecName KCNA5_HUMAN Potassium voltage-gated channel subfamily A member 5 # RefSeq NP_002225 NM_002234.3. [P22460-1] # SEQUENCE CAUTION Sequence=AAA60146.1; Type=Frameshift; Positions=579; Evidence={ECO 0000305}; # SIMILARITY Belongs to the potassium channel family. A (Shaker) (TC 1.A.1.2) subfamily. Kv1.5/KCNA5 sub-subfamily. {ECO 0000305}. # SMART SM00225 BTB # SUBCELLULAR LOCATION KCNA5_HUMAN Cell membrane {ECO 0000269|PubMed 12130714, ECO 0000269|PubMed 8505626}; Multi-pass membrane protein {ECO 0000305}. # SUBUNIT KCNA5_HUMAN Homotetramer and heterotetramer of potassium channel proteins. Interacts with DLG1, which enhances channel currents. Forms a ternary complex with DLG1 and CAV3 (By similarity). Interacts with KCNAB1 (PubMed 12130714). Interacts with UBE2I (PubMed 17261810). {ECO 0000250|UniProtKB P19024, ECO 0000269|PubMed 11524461, ECO 0000269|PubMed 12130714, ECO 0000269|PubMed 16466689, ECO 0000269|PubMed 17261810, ECO 0000269|PubMed 8505626}. # SUPFAM SSF54695 SSF54695 # TCDB 1.A.1.2 the voltage-gated ion channel (vic) superfamily # TISSUE SPECIFICITY KCNA5_HUMAN Pancreatic islets and insulinoma. # UCSC uc001qni human. [P22460-1] # eggNOG COG1226 LUCA # eggNOG KOG1545 Eukaryota BLAST swissprot:KCNA5_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCNA5_HUMAN BioCyc ZFISH:ENSG00000130037-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000130037-MONOMER COXPRESdb 3741 http://coxpresdb.jp/data/gene/3741.shtml CleanEx HS_KCNA5 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNA5 DIP DIP-42010N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-42010N DOI 10.1016/0888-7543(92)90302-9 http://dx.doi.org/10.1016/0888-7543(92)90302-9 DOI 10.1016/j.bbrc.2006.01.110 http://dx.doi.org/10.1016/j.bbrc.2006.01.110 DOI 10.1073/pnas.0606702104 http://dx.doi.org/10.1073/pnas.0606702104 DOI 10.1073/pnas.88.1.53 http://dx.doi.org/10.1073/pnas.88.1.53 DOI 10.1085/jgp.101.4.513 http://dx.doi.org/10.1085/jgp.101.4.513 DOI 10.1085/jgp.118.3.315 http://dx.doi.org/10.1085/jgp.118.3.315 DOI 10.1093/hmg/ddl143 http://dx.doi.org/10.1093/hmg/ddl143 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1124/jpet.102.033357 http://dx.doi.org/10.1124/jpet.102.033357 DOI 10.1126/science.1133427 http://dx.doi.org/10.1126/science.1133427 DrugBank DB06637 http://www.drugbank.ca/drugs/DB06637 EMBL BC096357 http://www.ebi.ac.uk/ena/data/view/BC096357 EMBL BC096358 http://www.ebi.ac.uk/ena/data/view/BC096358 EMBL BC099665 http://www.ebi.ac.uk/ena/data/view/BC099665 EMBL BC099666 http://www.ebi.ac.uk/ena/data/view/BC099666 EMBL M55513 http://www.ebi.ac.uk/ena/data/view/M55513 EMBL M60451 http://www.ebi.ac.uk/ena/data/view/M60451 EMBL M83254 http://www.ebi.ac.uk/ena/data/view/M83254 Ensembl ENST00000252321 http://www.ensembl.org/id/ENST00000252321 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GO_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0008076 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008076 GO_component GO:0014704 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014704 GO_component GO:0030018 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030018 GO_component GO:0034705 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034705 GO_component GO:0045121 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045121 GO_component GO:0046691 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046691 GO_component GO:0048471 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048471 GO_function GO:0005251 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005251 GO_function GO:0015271 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015271 GO_function GO:0019870 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019870 GO_function GO:0019901 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019901 GO_function GO:0051393 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051393 GO_function GO:0086087 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086087 GO_function GO:0086089 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086089 GO_function GO:0086090 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086090 GO_function GO:0097110 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097110 GO_process GO:0001666 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001666 GO_process GO:0006813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006813 GO_process GO:0007219 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007219 GO_process GO:0009612 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009612 GO_process GO:0010033 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010033 GO_process GO:0019229 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019229 GO_process GO:0042391 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042391 GO_process GO:0042542 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042542 GO_process GO:0043266 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043266 GO_process GO:0043267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043267 GO_process GO:0050796 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050796 GO_process GO:0051260 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051260 GO_process GO:0051481 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051481 GO_process GO:0055075 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055075 GO_process GO:0055093 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055093 GO_process GO:0060081 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060081 GO_process GO:0060372 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060372 GO_process GO:0071435 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071435 GO_process GO:0071805 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071805 GO_process GO:0086014 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086014 GO_process GO:0086050 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086050 GO_process GO:0086052 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086052 GO_process GO:0086091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086091 GO_process GO:1900087 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1900087 GO_process GO:2000288 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000288 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0008092 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008092 GOslim_function GO:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0003013 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003013 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.20.120.350 http://www.cathdb.info/version/latest/superfamily/1.20.120.350 GeneCards KCNA5 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNA5 GeneID 3741 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=3741 GeneTree ENSGT00760000118846 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118846 HGNC HGNC:6224 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6224 HOGENOM HOG000231015 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231015&db=HOGENOM6 HOVERGEN HBG052230 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052230&db=HOVERGEN HPA CAB022562 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB022562 HPA HPA021516 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA021516 InParanoid P22460 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P22460 IntAct P22460 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P22460* InterPro IPR000210 http://www.ebi.ac.uk/interpro/entry/IPR000210 InterPro IPR003131 http://www.ebi.ac.uk/interpro/entry/IPR003131 InterPro IPR003968 http://www.ebi.ac.uk/interpro/entry/IPR003968 InterPro IPR003972 http://www.ebi.ac.uk/interpro/entry/IPR003972 InterPro IPR004052 http://www.ebi.ac.uk/interpro/entry/IPR004052 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR011333 http://www.ebi.ac.uk/interpro/entry/IPR011333 InterPro IPR027359 http://www.ebi.ac.uk/interpro/entry/IPR027359 InterPro IPR028325 http://www.ebi.ac.uk/interpro/entry/IPR028325 Jabion 3741 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=3741 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00731 http://www.genome.jp/dbget-bin/www_bget?H00731 KEGG_Gene hsa:3741 http://www.genome.jp/dbget-bin/www_bget?hsa:3741 KEGG_Orthology KO:K04878 http://www.genome.jp/dbget-bin/www_bget?KO:K04878 MIM 176267 http://www.ncbi.nlm.nih.gov/omim/176267 MIM 612240 http://www.ncbi.nlm.nih.gov/omim/612240 MINT MINT-200758 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-200758 OMA GGELQCP http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=GGELQCP Orphanet 334 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=334 OrthoDB EOG091G10NU http://cegg.unige.ch/orthodb/results?searchtext=EOG091G10NU PANTHER PTHR11537 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11537 PANTHER PTHR11537:SF25 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11537:SF25 PRINTS PR00169 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00169 PRINTS PR01491 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01491 PRINTS PR01496 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01496 PRINTS PR01512 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01512 PSORT swissprot:KCNA5_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCNA5_HUMAN PSORT-B swissprot:KCNA5_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCNA5_HUMAN PSORT2 swissprot:KCNA5_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCNA5_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF02214 http://pfam.xfam.org/family/PF02214 PharmGKB PA208 http://www.pharmgkb.org/do/serve?objId=PA208&objCls=Gene Phobius swissprot:KCNA5_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCNA5_HUMAN PhylomeDB P22460 http://phylomedb.org/?seqid=P22460 ProteinModelPortal P22460 http://www.proteinmodelportal.org/query/uniprot/P22460 PubMed 11524461 http://www.ncbi.nlm.nih.gov/pubmed/11524461 PubMed 12130714 http://www.ncbi.nlm.nih.gov/pubmed/12130714 PubMed 1349297 http://www.ncbi.nlm.nih.gov/pubmed/1349297 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16466689 http://www.ncbi.nlm.nih.gov/pubmed/16466689 PubMed 16772329 http://www.ncbi.nlm.nih.gov/pubmed/16772329 PubMed 16959974 http://www.ncbi.nlm.nih.gov/pubmed/16959974 PubMed 17261810 http://www.ncbi.nlm.nih.gov/pubmed/17261810 PubMed 1986382 http://www.ncbi.nlm.nih.gov/pubmed/1986382 PubMed 2001794 http://www.ncbi.nlm.nih.gov/pubmed/2001794 PubMed 8505626 http://www.ncbi.nlm.nih.gov/pubmed/8505626 Reactome R-HSA-1296072 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1296072 RefSeq NP_002225 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_002225 SMART SM00225 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00225 SMR P22460 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P22460 STRING 9606.ENSP00000252321 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000252321&targetmode=cogs SUPFAM SSF54695 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF54695 TCDB 1.A.1.2 http://www.tcdb.org/search/result.php?tc=1.A.1.2 UCSC uc001qni http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001qni&org=rat UniGene Hs.150208 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.150208 UniGene Hs.741439 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.741439 UniProtKB KCNA5_HUMAN http://www.uniprot.org/uniprot/KCNA5_HUMAN UniProtKB-AC P22460 http://www.uniprot.org/uniprot/P22460 charge swissprot:KCNA5_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCNA5_HUMAN eggNOG COG1226 http://eggnogapi.embl.de/nog_data/html/tree/COG1226 eggNOG KOG1545 http://eggnogapi.embl.de/nog_data/html/tree/KOG1545 epestfind swissprot:KCNA5_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCNA5_HUMAN garnier swissprot:KCNA5_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCNA5_HUMAN helixturnhelix swissprot:KCNA5_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCNA5_HUMAN hmoment swissprot:KCNA5_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCNA5_HUMAN iep swissprot:KCNA5_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCNA5_HUMAN inforesidue swissprot:KCNA5_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCNA5_HUMAN neXtProt NX_P22460 http://www.nextprot.org/db/entry/NX_P22460 octanol swissprot:KCNA5_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCNA5_HUMAN pepcoil swissprot:KCNA5_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCNA5_HUMAN pepdigest swissprot:KCNA5_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCNA5_HUMAN pepinfo swissprot:KCNA5_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCNA5_HUMAN pepnet swissprot:KCNA5_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCNA5_HUMAN pepstats swissprot:KCNA5_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCNA5_HUMAN pepwheel swissprot:KCNA5_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCNA5_HUMAN pepwindow swissprot:KCNA5_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCNA5_HUMAN sigcleave swissprot:KCNA5_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCNA5_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS LAT2_HUMAN Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q9UHI5-1; Sequence=Displayed; Name=2; IsoId=Q9UHI5-2; Sequence=VSP_046946; Note=No experimental confirmation available.; Name=3; IsoId=Q9UHI5-3; Sequence=VSP_046945; Note=No experimental confirmation available.; Name=4; IsoId=Q9UHI5-4; Sequence=VSP_046947; Note=No experimental confirmation available.; # AltName LAT2_HUMAN L-type amino acid transporter 2 # AltName LAT2_HUMAN Solute carrier family 7 member 8 # BIOPHYSICOCHEMICAL PROPERTIES LAT2_HUMAN Kinetic parameters KM=221 uM for L-leucine {ECO 0000269|PubMed 10391915, ECO 0000269|PubMed 12117417, ECO 0000269|PubMed 15081149, ECO 0000269|PubMed 15918515}; KM=64 uM for MeHg-L-cysteine {ECO 0000269|PubMed 10391915, ECO 0000269|PubMed 12117417, ECO 0000269|PubMed 15081149, ECO 0000269|PubMed 15918515}; KM=161 uM for methionine {ECO 0000269|PubMed 10391915, ECO 0000269|PubMed 12117417, ECO 0000269|PubMed 15081149, ECO 0000269|PubMed 15918515}; KM=978 uM for L-alanine {ECO 0000269|PubMed 10391915, ECO 0000269|PubMed 12117417, ECO 0000269|PubMed 15081149, ECO 0000269|PubMed 15918515}; KM=89.35 uM for L-phenylalanine {ECO 0000269|PubMed 10391915, ECO 0000269|PubMed 12117417, ECO 0000269|PubMed 15081149, ECO 0000269|PubMed 15918515}; KM=57.3 uM for L-tryptophan {ECO 0000269|PubMed 10391915, ECO 0000269|PubMed 12117417, ECO 0000269|PubMed 15081149, ECO 0000269|PubMed 15918515}; KM=48.8 uM for L-tyrosine {ECO 0000269|PubMed 10391915, ECO 0000269|PubMed 12117417, ECO 0000269|PubMed 15081149, ECO 0000269|PubMed 15918515}; # CCDS CCDS41924 -. [Q9UHI5-2] # CCDS CCDS58304 -. [Q9UHI5-3] # CCDS CCDS58305 -. [Q9UHI5-4] # CCDS CCDS9590 -. [Q9UHI5-1] # ChiTaRS SLC7A8 human # DrugBank DB00120 L-Phenylalanine # DrugBank DB00130 L-Glutamine # DrugBank DB00160 L-Alanine # DrugBank DB01235 Levodopa # Ensembl ENST00000316902 ENSP00000320378; ENSG00000092068. [Q9UHI5-1] # Ensembl ENST00000422941 ENSP00000416398; ENSG00000092068. [Q9UHI5-3] # Ensembl ENST00000453702 ENSP00000391577; ENSG00000092068. [Q9UHI5-2] # Ensembl ENST00000529705 ENSP00000434345; ENSG00000092068. [Q9UHI5-4] # ExpressionAtlas Q9UHI5 baseline and differential # FUNCTION LAT2_HUMAN Sodium-independent, high-affinity transport of small and large neutral amino acids such as alanine, serine, threonine, cysteine, phenylalanine, tyrosine, leucine, arginine and tryptophan, when associated with SLC3A2/4F2hc. Acts as an amino acid exchanger. Has higher affinity for L-phenylalanine than LAT1 but lower affinity for glutamine and serine. L-alanine is transported at physiological concentrations. Plays a role in basolateral (re)absorption of neutral amino acids. Involved in the uptake of methylmercury (MeHg) when administered as the L-cysteine or D,L-homocysteine complexes, and hence plays a role in metal ion homeostasis and toxicity. Involved in the cellular activity of small molecular weight nitrosothiols, via the stereoselective transport of L-nitrosocysteine (L-CNSO) across the transmembrane. Plays an essential role in the reabsorption of neutral amino acids from the epithelial cells to the bloodstream in the kidney. {ECO 0000269|PubMed 10391915, ECO 0000269|PubMed 10574970, ECO 0000269|PubMed 11311135, ECO 0000269|PubMed 12117417, ECO 0000269|PubMed 12716892, ECO 0000269|PubMed 15081149, ECO 0000269|PubMed 15769744, ECO 0000269|PubMed 15918515}. # GO_component GO:0005737 cytoplasm; IEA:UniProtKB-SubCell. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0016323 basolateral plasma membrane; IEA:UniProtKB-SubCell. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0015101 organic cation transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0015171 amino acid transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0015175 neutral amino acid transmembrane transporter activity; TAS:ProtInc. # GO_function GO:0015179 L-amino acid transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015297 antiporter activity; IBA:GO_Central. # GO_function GO:0019534 toxin transporter activity; IDA:UniProtKB. # GO_function GO:0042605 peptide antigen binding; ISS:UniProtKB. # GO_process GO:0006520 cellular amino acid metabolic process; TAS:ProtInc. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0006865 amino acid transport; IDA:UniProtKB. # GO_process GO:0009636 response to toxic substance; NAS:UniProtKB. # GO_process GO:0015804 neutral amino acid transport; ISS:UniProtKB. # GO_process GO:0050900 leukocyte migration; TAS:Reactome. # GO_process GO:0055065 metal ion homeostasis; NAS:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0002376 immune system process # GOslim_process GO:0006520 cellular amino acid metabolic process # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0048870 cell motility # Genevisible Q9UHI5 HS # HGNC HGNC:11066 SLC7A8 # INDUCTION Activity in polarized intestinal cells is regulated by the association between SLC3A2/4F2 (in the SLC3A2/4F2-LAT2 heterodimer) and ICAM1. {ECO:0000269|PubMed 12716892}. # InterPro IPR002293 AA/rel_permease1 # InterPro IPR004760 L_AA_transporter # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02001 Solute carrier family # KEGG_Pathway ko04974 Protein digestion and absorption # MIM 604235 gene # MISCELLANEOUS LAT2_HUMAN L-leucine transport activity inhibited by small zwitterionic amino acids (i.e. glycine, alanine, serine, threonine asparginine, glutamine, methionine, leucine, isoleucine, valine, phenylalanine, tyrosine, tryptophan, histidine and cysteine) and by glutamine and asparginine. Methionine uptake was inhibited by the L-system substrates L-leucine, 2-amino-bicyclo-(2,2,1)- heptane-2-carboxylate (BCH), L-cysteine and by the MeHg-L-cysteine complex and structurally related S-ethyl-L-cysteine. MeHg-L- cysteine uptake is inhibited by L-methionine, L-leucine, BCH and S-ethyl-L-cysteine. L-leucine uptake was inhibited by L-CNSO. # Organism LAT2_HUMAN Homo sapiens (Human) # PANTHER PTHR11785 PTHR11785 # PIRSF PIRSF006060 AA_transporter # Pfam PF13520 AA_permease_2 # Proteomes UP000005640 Chromosome 14 # Reactome R-HSA-210991 Basigin interactions # Reactome R-HSA-352230 Amino acid transport across the plasma membrane # RecName LAT2_HUMAN Large neutral amino acids transporter small subunit 2 # RefSeq NP_001253965 NM_001267036.1. [Q9UHI5-4] # RefSeq NP_001253966 NM_001267037.1. [Q9UHI5-3] # RefSeq NP_036376 NM_012244.3. [Q9UHI5-1] # RefSeq NP_877392 NM_182728.2. [Q9UHI5-2] # SEQUENCE CAUTION Sequence=CAD62616.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the amino acid-polyamine-organocation (APC) superfamily. L-type amino acid transporter (LAT) (TC 2.A.3.8) family. {ECO 0000305}. # SUBCELLULAR LOCATION LAT2_HUMAN Cytoplasm. Basolateral cell membrane; Multi- pass membrane protein. Note=Localized to the cytoplasm when expressed alone but when coexpressed with SLC3A2/4F2hc, is localized to the plasma membrane. Colocalized with SLC3A2/4F2hc at the basolateral membrane of kidney cortex proximal tubules and small intestine epithelia of the villi. # SUBUNIT LAT2_HUMAN Disulfide-linked heterodimer with the amino acid transport protein SLC3A2/4F2hc. {ECO 0000269|PubMed 10391915, ECO 0000269|PubMed 10574970, ECO 0000269|PubMed 11311135, ECO 0000269|PubMed 12716892, ECO 0000269|PubMed 15769744, ECO 0000269|PubMed 15918515}. # TCDB 2.A.3.8.20 the amino acid-polyamine-organocation (apc) family # TIGRFAMs TIGR00911 2A0308 # TISSUE SPECIFICITY LAT2_HUMAN Strongest expression is observed in kidney and moderate expression in placenta and brain, followed by liver, prostate, testis, ovary, lymph node, thymus, spleen, skeletal muscle and heart. Also expressed in fetal liver as well as in the retinal pigment epithelial cell line ARPE-19 and the intestinal epithelial cell line Caco-2. {ECO 0000269|PubMed 10391915, ECO 0000269|PubMed 15081149, ECO 0000269|PubMed 15918515, ECO 0000269|PubMed 16027961}. # UCSC uc001wix human. [Q9UHI5-1] # eggNOG COG0531 LUCA # eggNOG KOG1287 Eukaryota BLAST swissprot:LAT2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:LAT2_HUMAN BioCyc MetaCyc:ENSG00000092068-MONOMER http://biocyc.org/getid?id=MetaCyc:ENSG00000092068-MONOMER BioCyc ZFISH:ENSG00000092068-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000092068-MONOMER COXPRESdb 23428 http://coxpresdb.jp/data/gene/23428.shtml CleanEx HS_LAT2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_LAT2 CleanEx HS_SLC7A8 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC7A8 DOI 10.1007/BF02977671 http://dx.doi.org/10.1007/BF02977671 DOI 10.1007/s00726-005-0221-x http://dx.doi.org/10.1007/s00726-005-0221-x DOI 10.1016/j.ijpharm.2004.01.035 http://dx.doi.org/10.1016/j.ijpharm.2004.01.035 DOI 10.1038/6815 http://dx.doi.org/10.1038/6815 DOI 10.1038/nature01348 http://dx.doi.org/10.1038/nature01348 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1042/BJ20020841 http://dx.doi.org/10.1042/BJ20020841 DOI 10.1074/jbc.274.28.19738 http://dx.doi.org/10.1074/jbc.274.28.19738 DOI 10.1074/jbc.274.49.34948 http://dx.doi.org/10.1074/jbc.274.49.34948 DOI 10.1074/jbc.M302777200 http://dx.doi.org/10.1074/jbc.M302777200 DOI 10.1074/jbc.M413164200 http://dx.doi.org/10.1074/jbc.M413164200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DrugBank DB00120 http://www.drugbank.ca/drugs/DB00120 DrugBank DB00130 http://www.drugbank.ca/drugs/DB00130 DrugBank DB00160 http://www.drugbank.ca/drugs/DB00160 DrugBank DB01235 http://www.drugbank.ca/drugs/DB01235 EMBL AB037669 http://www.ebi.ac.uk/ena/data/view/AB037669 EMBL AF135828 http://www.ebi.ac.uk/ena/data/view/AF135828 EMBL AF135829 http://www.ebi.ac.uk/ena/data/view/AF135829 EMBL AF135830 http://www.ebi.ac.uk/ena/data/view/AF135830 EMBL AF171669 http://www.ebi.ac.uk/ena/data/view/AF171669 EMBL AK296702 http://www.ebi.ac.uk/ena/data/view/AK296702 EMBL AK300384 http://www.ebi.ac.uk/ena/data/view/AK300384 EMBL AK313465 http://www.ebi.ac.uk/ena/data/view/AK313465 EMBL AL117258 http://www.ebi.ac.uk/ena/data/view/AL117258 EMBL BC052250 http://www.ebi.ac.uk/ena/data/view/BC052250 EMBL BX248288 http://www.ebi.ac.uk/ena/data/view/BX248288 EMBL CH471078 http://www.ebi.ac.uk/ena/data/view/CH471078 EMBL CH471078 http://www.ebi.ac.uk/ena/data/view/CH471078 EMBL Y18483 http://www.ebi.ac.uk/ena/data/view/Y18483 Ensembl ENST00000316902 http://www.ensembl.org/id/ENST00000316902 Ensembl ENST00000422941 http://www.ensembl.org/id/ENST00000422941 Ensembl ENST00000453702 http://www.ensembl.org/id/ENST00000453702 Ensembl ENST00000529705 http://www.ensembl.org/id/ENST00000529705 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016323 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0015101 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015101 GO_function GO:0015171 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015171 GO_function GO:0015175 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015175 GO_function GO:0015179 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015179 GO_function GO:0015297 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015297 GO_function GO:0019534 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019534 GO_function GO:0042605 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042605 GO_process GO:0006520 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006520 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0006865 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006865 GO_process GO:0009636 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009636 GO_process GO:0015804 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015804 GO_process GO:0050900 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050900 GO_process GO:0055065 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055065 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0002376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002376 GOslim_process GO:0006520 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006520 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0048870 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048870 GeneCards SLC7A8 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC7A8 GeneID 23428 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=23428 GeneTree ENSGT00760000119037 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119037 HGNC HGNC:11066 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11066 HOGENOM HOG000098892 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000098892&db=HOGENOM6 HOVERGEN HBG000476 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG000476&db=HOVERGEN HPA CAB046015 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB046015 HPA HPA051950 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA051950 HPA HPA060672 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA060672 InParanoid Q9UHI5 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9UHI5 InterPro IPR002293 http://www.ebi.ac.uk/interpro/entry/IPR002293 InterPro IPR004760 http://www.ebi.ac.uk/interpro/entry/IPR004760 Jabion 23428 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=23428 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:23428 http://www.genome.jp/dbget-bin/www_bget?hsa:23428 KEGG_Orthology KO:K13781 http://www.genome.jp/dbget-bin/www_bget?KO:K13781 KEGG_Pathway ko04974 http://www.genome.jp/kegg-bin/show_pathway?ko04974 MIM 604235 http://www.ncbi.nlm.nih.gov/omim/604235 OMA PALYIVM http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=PALYIVM OrthoDB EOG091G07EM http://cegg.unige.ch/orthodb/results?searchtext=EOG091G07EM PANTHER PTHR11785 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11785 PSORT swissprot:LAT2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:LAT2_HUMAN PSORT-B swissprot:LAT2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:LAT2_HUMAN PSORT2 swissprot:LAT2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:LAT2_HUMAN Pfam PF13520 http://pfam.xfam.org/family/PF13520 PharmGKB PA35926 http://www.pharmgkb.org/do/serve?objId=PA35926&objCls=Gene Phobius swissprot:LAT2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:LAT2_HUMAN PhylomeDB Q9UHI5 http://phylomedb.org/?seqid=Q9UHI5 ProteinModelPortal Q9UHI5 http://www.proteinmodelportal.org/query/uniprot/Q9UHI5 PubMed 10080183 http://www.ncbi.nlm.nih.gov/pubmed/10080183 PubMed 10391915 http://www.ncbi.nlm.nih.gov/pubmed/10391915 PubMed 10574970 http://www.ncbi.nlm.nih.gov/pubmed/10574970 PubMed 11311135 http://www.ncbi.nlm.nih.gov/pubmed/11311135 PubMed 12117417 http://www.ncbi.nlm.nih.gov/pubmed/12117417 PubMed 12508121 http://www.ncbi.nlm.nih.gov/pubmed/12508121 PubMed 12716892 http://www.ncbi.nlm.nih.gov/pubmed/12716892 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15081149 http://www.ncbi.nlm.nih.gov/pubmed/15081149 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15769744 http://www.ncbi.nlm.nih.gov/pubmed/15769744 PubMed 15918515 http://www.ncbi.nlm.nih.gov/pubmed/15918515 PubMed 16027961 http://www.ncbi.nlm.nih.gov/pubmed/16027961 Reactome R-HSA-210991 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-210991 Reactome R-HSA-352230 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-352230 RefSeq NP_001253965 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001253965 RefSeq NP_001253966 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001253966 RefSeq NP_036376 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_036376 RefSeq NP_877392 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_877392 STRING 9606.ENSP00000320378 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000320378&targetmode=cogs TCDB 2.A.3.8.20 http://www.tcdb.org/search/result.php?tc=2.A.3.8.20 TIGRFAMs TIGR00911 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00911 UCSC uc001wix http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001wix&org=rat UniGene Hs.596643 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.596643 UniProtKB LAT2_HUMAN http://www.uniprot.org/uniprot/LAT2_HUMAN UniProtKB-AC Q9UHI5 http://www.uniprot.org/uniprot/Q9UHI5 charge swissprot:LAT2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:LAT2_HUMAN eggNOG COG0531 http://eggnogapi.embl.de/nog_data/html/tree/COG0531 eggNOG KOG1287 http://eggnogapi.embl.de/nog_data/html/tree/KOG1287 epestfind swissprot:LAT2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:LAT2_HUMAN garnier swissprot:LAT2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:LAT2_HUMAN helixturnhelix swissprot:LAT2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:LAT2_HUMAN hmoment swissprot:LAT2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:LAT2_HUMAN iep swissprot:LAT2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:LAT2_HUMAN inforesidue swissprot:LAT2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:LAT2_HUMAN neXtProt NX_Q9UHI5 http://www.nextprot.org/db/entry/NX_Q9UHI5 octanol swissprot:LAT2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:LAT2_HUMAN pepcoil swissprot:LAT2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:LAT2_HUMAN pepdigest swissprot:LAT2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:LAT2_HUMAN pepinfo swissprot:LAT2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:LAT2_HUMAN pepnet swissprot:LAT2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:LAT2_HUMAN pepstats swissprot:LAT2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:LAT2_HUMAN pepwheel swissprot:LAT2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:LAT2_HUMAN pepwindow swissprot:LAT2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:LAT2_HUMAN sigcleave swissprot:LAT2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:LAT2_HUMAN ## Database ID URL or Descriptions # AltName SERC1_HUMAN Tumor differentially expressed protein 1-like # AltName SERC1_HUMAN Tumor differentially expressed protein 2 # BioGrid 121579 33 # ChiTaRS SERINC1 human # Ensembl ENST00000339697 ENSP00000342962; ENSG00000111897 # FUNCTION SERC1_HUMAN Enhances the incorporation of serine into phosphatidylserine and sphingolipids. {ECO 0000250|UniProtKB Q7TNK0}. # GO_component GO:0005789 endoplasmic reticulum membrane; ISS:HGNC. # GO_component GO:0005886 plasma membrane; ISS:HGNC. # GO_component GO:0016021 integral component of membrane; IBA:GO_Central. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0015194 L-serine transmembrane transporter activity; ISS:HGNC. # GO_process GO:0006658 phosphatidylserine metabolic process; ISS:HGNC. # GO_process GO:0006665 sphingolipid metabolic process; ISS:HGNC. # GO_process GO:0008654 phospholipid biosynthetic process; IEA:UniProtKB-KW. # GO_process GO:0015825 L-serine transport; ISS:HGNC. # GO_process GO:1904219 positive regulation of CDP-diacylglycerol-serine O-phosphatidyltransferase activity; ISS:BHF-UCL. # GO_process GO:1904222 positive regulation of serine C-palmitoyltransferase activity; ISS:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006629 lipid metabolic process # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0009058 biosynthetic process # Genevisible Q9NRX5 HS # HGNC HGNC:13464 SERINC1 # INTERACTION SERC1_HUMAN Q06710 PAX8; NbExp=2; IntAct=EBI-2683145, EBI-2683132; # IntAct Q9NRX5 14 # InterPro IPR005016 TDE1/TMS # InterPro IPR029552 SERINC1 # MIM 614548 gene # Organism SERC1_HUMAN Homo sapiens (Human) # PANTHER PTHR10383 PTHR10383 # PANTHER PTHR10383:SF15 PTHR10383:SF15 # Pfam PF03348 Serinc # Proteomes UP000005640 Chromosome 6 # Reactome R-HSA-977347 Serine biosynthesis # RecName SERC1_HUMAN Serine incorporator 1 # RefSeq NP_065806 NM_020755.3 # SEQUENCE CAUTION Sequence=BAA86567.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the TDE1 family. {ECO 0000305}. # SUBCELLULAR LOCATION SERC1_HUMAN Endoplasmic reticulum membrane {ECO 0000250|UniProtKB Q7TNK0}; Multi-pass membrane protein {ECO 0000250|UniProtKB Q7TNK0}. # SUBUNIT Interacts with SPTLC1. {ECO:0000250|UniProtKB Q7TNK0}. # UCSC uc003pyy human # eggNOG ENOG410XP7K LUCA # eggNOG KOG2592 Eukaryota BLAST swissprot:SERC1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SERC1_HUMAN BioCyc ZFISH:ENSG00000111897-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000111897-MONOMER COXPRESdb 57515 http://coxpresdb.jp/data/gene/57515.shtml CleanEx HS_SERINC1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SERINC1 DOI 10.1002/pmic.200900783 http://dx.doi.org/10.1002/pmic.200900783 DOI 10.1016/j.cell.2006.09.026 http://dx.doi.org/10.1016/j.cell.2006.09.026 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1021/pr8008012 http://dx.doi.org/10.1021/pr8008012 DOI 10.1038/nature02055 http://dx.doi.org/10.1038/nature02055 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1073/pnas.160270997 http://dx.doi.org/10.1073/pnas.160270997 DOI 10.1093/dnares/6.5.337 http://dx.doi.org/10.1093/dnares/6.5.337 DOI 10.1101/gr.1293003 http://dx.doi.org/10.1101/gr.1293003 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/scisignal.2000007 http://dx.doi.org/10.1126/scisignal.2000007 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 EMBL AB033079 http://www.ebi.ac.uk/ena/data/view/AB033079 EMBL AF087902 http://www.ebi.ac.uk/ena/data/view/AF087902 EMBL AF092436 http://www.ebi.ac.uk/ena/data/view/AF092436 EMBL AF164794 http://www.ebi.ac.uk/ena/data/view/AF164794 EMBL AK128781 http://www.ebi.ac.uk/ena/data/view/AK128781 EMBL AL137261 http://www.ebi.ac.uk/ena/data/view/AL137261 EMBL AY358429 http://www.ebi.ac.uk/ena/data/view/AY358429 EMBL BC028607 http://www.ebi.ac.uk/ena/data/view/BC028607 EMBL BC033029 http://www.ebi.ac.uk/ena/data/view/BC033029 EMBL CH471051 http://www.ebi.ac.uk/ena/data/view/CH471051 EMBL CH471051 http://www.ebi.ac.uk/ena/data/view/CH471051 EMBL Z99129 http://www.ebi.ac.uk/ena/data/view/Z99129 Ensembl ENST00000339697 http://www.ensembl.org/id/ENST00000339697 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005789 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005789 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0015194 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015194 GO_process GO:0006658 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006658 GO_process GO:0006665 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006665 GO_process GO:0008654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008654 GO_process GO:0015825 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015825 GO_process GO:1904219 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1904219 GO_process GO:1904222 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1904222 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006629 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006629 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GeneCards SERINC1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SERINC1 GeneID 57515 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=57515 GeneTree ENSGT00550000074522 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074522 HGNC HGNC:13464 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:13464 HOVERGEN HBG025699 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG025699&db=HOVERGEN HPA HPA035738 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA035738 HPA HPA035739 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA035739 InParanoid Q9NRX5 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9NRX5 IntAct Q9NRX5 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9NRX5* InterPro IPR005016 http://www.ebi.ac.uk/interpro/entry/IPR005016 InterPro IPR029552 http://www.ebi.ac.uk/interpro/entry/IPR029552 Jabion 57515 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=57515 KEGG_Gene hsa:57515 http://www.genome.jp/dbget-bin/www_bget?hsa:57515 MIM 614548 http://www.ncbi.nlm.nih.gov/omim/614548 MINT MINT-5005668 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-5005668 OMA SSSWICI http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=SSSWICI OrthoDB EOG091G07WS http://cegg.unige.ch/orthodb/results?searchtext=EOG091G07WS PANTHER PTHR10383 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10383 PANTHER PTHR10383:SF15 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10383:SF15 PSORT swissprot:SERC1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SERC1_HUMAN PSORT-B swissprot:SERC1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SERC1_HUMAN PSORT2 swissprot:SERC1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SERC1_HUMAN Pfam PF03348 http://pfam.xfam.org/family/PF03348 PharmGKB PA134973249 http://www.pharmgkb.org/do/serve?objId=PA134973249&objCls=Gene Phobius swissprot:SERC1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SERC1_HUMAN PhylomeDB Q9NRX5 http://phylomedb.org/?seqid=Q9NRX5 ProteinModelPortal Q9NRX5 http://www.proteinmodelportal.org/query/uniprot/Q9NRX5 PubMed 10574462 http://www.ncbi.nlm.nih.gov/pubmed/10574462 PubMed 10931946 http://www.ncbi.nlm.nih.gov/pubmed/10931946 PubMed 12975309 http://www.ncbi.nlm.nih.gov/pubmed/12975309 PubMed 14574404 http://www.ncbi.nlm.nih.gov/pubmed/14574404 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 17081983 http://www.ncbi.nlm.nih.gov/pubmed/17081983 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 19159218 http://www.ncbi.nlm.nih.gov/pubmed/19159218 PubMed 19690332 http://www.ncbi.nlm.nih.gov/pubmed/19690332 PubMed 20213681 http://www.ncbi.nlm.nih.gov/pubmed/20213681 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 Reactome R-HSA-977347 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-977347 RefSeq NP_065806 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_065806 STRING 9606.ENSP00000342962 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000342962&targetmode=cogs UCSC uc003pyy http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003pyy&org=rat UniGene Hs.146668 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.146668 UniProtKB SERC1_HUMAN http://www.uniprot.org/uniprot/SERC1_HUMAN UniProtKB-AC Q9NRX5 http://www.uniprot.org/uniprot/Q9NRX5 charge swissprot:SERC1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SERC1_HUMAN eggNOG ENOG410XP7K http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XP7K eggNOG KOG2592 http://eggnogapi.embl.de/nog_data/html/tree/KOG2592 epestfind swissprot:SERC1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SERC1_HUMAN garnier swissprot:SERC1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SERC1_HUMAN helixturnhelix swissprot:SERC1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SERC1_HUMAN hmoment swissprot:SERC1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SERC1_HUMAN iep swissprot:SERC1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SERC1_HUMAN inforesidue swissprot:SERC1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SERC1_HUMAN neXtProt NX_Q9NRX5 http://www.nextprot.org/db/entry/NX_Q9NRX5 octanol swissprot:SERC1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SERC1_HUMAN pepcoil swissprot:SERC1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SERC1_HUMAN pepdigest swissprot:SERC1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SERC1_HUMAN pepinfo swissprot:SERC1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SERC1_HUMAN pepnet swissprot:SERC1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SERC1_HUMAN pepstats swissprot:SERC1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SERC1_HUMAN pepwheel swissprot:SERC1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SERC1_HUMAN pepwindow swissprot:SERC1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SERC1_HUMAN sigcleave swissprot:SERC1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SERC1_HUMAN ## Database ID URL or Descriptions # AltName CXD2_HUMAN Connexin-36 # AltName CXD2_HUMAN Gap junction alpha-9 protein # Ensembl ENST00000290374 ENSP00000290374; ENSG00000159248 # FUNCTION CXD2_HUMAN One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005922 connexin complex; IEA:InterPro. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0005243 gap junction channel activity; TAS:Reactome. # GO_process GO:0001508 action potential; IEA:Ensembl. # GO_process GO:0007268 chemical synaptic transmission; IEA:Ensembl. # GO_process GO:0007601 visual perception; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043234 protein complex # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # GOslim_process GO:0050877 neurological system process # Genevisible Q9UKL4 HS # HGNC HGNC:19154 GJD2 # InterPro IPR000500 Connexin # InterPro IPR002260 Connexin36 # InterPro IPR013092 Connexin_N # InterPro IPR017990 Connexin_CS # InterPro IPR019570 Connexin_CCC # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Pathway ko04540 Gap junction # MIM 607058 gene # Organism CXD2_HUMAN Homo sapiens (Human) # PANTHER PTHR11984 PTHR11984; 2 # PDB 2N6A NMR; -; A=276-292 # PRINTS PR00206 CONNEXIN # PRINTS PR01131 CONNEXIN36 # PROSITE PS00407 CONNEXINS_1 # PROSITE PS00408 CONNEXINS_2 # Pfam PF00029 Connexin # Proteomes UP000005640 Chromosome 15 # Reactome R-HSA-112303 Electric Transmission Across Gap Junctions # Reactome R-HSA-190861 Gap junction assembly # RecName CXD2_HUMAN Gap junction delta-2 protein # RefSeq NP_065711 NM_020660.2 # SIMILARITY Belongs to the connexin family. Delta-type subfamily. {ECO 0000305}. # SMART SM00037 CNX # SMART SM01089 Connexin_CCC # SUBCELLULAR LOCATION CXD2_HUMAN Cell membrane; Multi-pass membrane protein. Cell junction, gap junction. # SUBUNIT CXD2_HUMAN A connexon is composed of a hexamer of connexins. # TISSUE SPECIFICITY CXD2_HUMAN Highly expressed in neurons. # UCSC uc001zis human # eggNOG ENOG410IJ31 Eukaryota # eggNOG ENOG410YRD5 LUCA BLAST swissprot:CXD2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CXD2_HUMAN COXPRESdb 57369 http://coxpresdb.jp/data/gene/57369.shtml CleanEx HS_GJA9 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_GJA9 CleanEx HS_GJD2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_GJD2 DOI 10.1002/(SICI)1097-4547(19990901)57:5<740::AID-JNR16>3.0.CO http://dx.doi.org/10.1002/(SICI)1097-4547(19990901)57:5<740::AID-JNR16>3.0.CO DOI 10.1093/molbev/msh100 http://dx.doi.org/10.1093/molbev/msh100 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AB037509 http://www.ebi.ac.uk/ena/data/view/AB037509 EMBL AF153047 http://www.ebi.ac.uk/ena/data/view/AF153047 EMBL BC069339 http://www.ebi.ac.uk/ena/data/view/BC069339 EMBL BC112110 http://www.ebi.ac.uk/ena/data/view/BC112110 EMBL BC112114 http://www.ebi.ac.uk/ena/data/view/BC112114 Ensembl ENST00000290374 http://www.ensembl.org/id/ENST00000290374 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005922 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005922 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005243 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005243 GO_process GO:0001508 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001508 GO_process GO:0007268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007268 GO_process GO:0007601 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007601 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GeneCards GJD2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=GJD2 GeneID 57369 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=57369 GeneTree ENSGT00840000129674 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00840000129674 HGNC HGNC:19154 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:19154 HOGENOM HOG000231127 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231127&db=HOGENOM6 HOVERGEN HBG009576 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG009576&db=HOVERGEN HPA HPA014355 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA014355 InParanoid Q9UKL4 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9UKL4 InterPro IPR000500 http://www.ebi.ac.uk/interpro/entry/IPR000500 InterPro IPR002260 http://www.ebi.ac.uk/interpro/entry/IPR002260 InterPro IPR013092 http://www.ebi.ac.uk/interpro/entry/IPR013092 InterPro IPR017990 http://www.ebi.ac.uk/interpro/entry/IPR017990 InterPro IPR019570 http://www.ebi.ac.uk/interpro/entry/IPR019570 Jabion 57369 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=57369 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Gene hsa:57369 http://www.genome.jp/dbget-bin/www_bget?hsa:57369 KEGG_Orthology KO:K07373 http://www.genome.jp/dbget-bin/www_bget?KO:K07373 KEGG_Pathway ko04540 http://www.genome.jp/kegg-bin/show_pathway?ko04540 MIM 607058 http://www.ncbi.nlm.nih.gov/omim/607058 OMA NKETEPD http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=NKETEPD OrthoDB EOG091G0FB1 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0FB1 PANTHER PTHR11984 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11984 PDB 2N6A http://www.ebi.ac.uk/pdbe-srv/view/entry/2N6A PDBsum 2N6A http://www.ebi.ac.uk/pdbsum/2N6A PRINTS PR00206 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00206 PRINTS PR01131 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01131 PROSITE PS00407 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00407 PROSITE PS00408 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00408 PSORT swissprot:CXD2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CXD2_HUMAN PSORT-B swissprot:CXD2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CXD2_HUMAN PSORT2 swissprot:CXD2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CXD2_HUMAN Pfam PF00029 http://pfam.xfam.org/family/PF00029 PharmGKB PA162389706 http://www.pharmgkb.org/do/serve?objId=PA162389706&objCls=Gene Phobius swissprot:CXD2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CXD2_HUMAN PhylomeDB Q9UKL4 http://phylomedb.org/?seqid=Q9UKL4 ProteinModelPortal Q9UKL4 http://www.proteinmodelportal.org/query/uniprot/Q9UKL4 PubMed 10462698 http://www.ncbi.nlm.nih.gov/pubmed/10462698 PubMed 15014171 http://www.ncbi.nlm.nih.gov/pubmed/15014171 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 Reactome R-HSA-112303 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-112303 Reactome R-HSA-190861 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-190861 RefSeq NP_065711 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_065711 SMART SM00037 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00037 SMART SM01089 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM01089 SMR Q9UKL4 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9UKL4 STRING 9606.ENSP00000290374 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000290374&targetmode=cogs UCSC uc001zis http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001zis&org=rat UniGene Hs.283816 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.283816 UniProtKB CXD2_HUMAN http://www.uniprot.org/uniprot/CXD2_HUMAN UniProtKB-AC Q9UKL4 http://www.uniprot.org/uniprot/Q9UKL4 charge swissprot:CXD2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CXD2_HUMAN eggNOG ENOG410IJ31 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IJ31 eggNOG ENOG410YRD5 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410YRD5 epestfind swissprot:CXD2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CXD2_HUMAN garnier swissprot:CXD2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CXD2_HUMAN helixturnhelix swissprot:CXD2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CXD2_HUMAN hmoment swissprot:CXD2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CXD2_HUMAN iep swissprot:CXD2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CXD2_HUMAN inforesidue swissprot:CXD2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CXD2_HUMAN neXtProt NX_Q9UKL4 http://www.nextprot.org/db/entry/NX_Q9UKL4 octanol swissprot:CXD2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CXD2_HUMAN pepcoil swissprot:CXD2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CXD2_HUMAN pepdigest swissprot:CXD2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CXD2_HUMAN pepinfo swissprot:CXD2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CXD2_HUMAN pepnet swissprot:CXD2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CXD2_HUMAN pepstats swissprot:CXD2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CXD2_HUMAN pepwheel swissprot:CXD2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CXD2_HUMAN pepwindow swissprot:CXD2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CXD2_HUMAN sigcleave swissprot:CXD2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CXD2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS SCN9A_HUMAN Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q15858-1; Sequence=Displayed; Name=2; IsoId=Q15858-2; Sequence=VSP_012028; Name=3; IsoId=Q15858-3; Sequence=VSP_012029; Name=4; IsoId=Q15858-4; Sequence=VSP_012028, VSP_012029; # AltName Neuroendocrine sodium channel {ECO:0000303|PubMed 7720699} # AltName SCN9A_HUMAN Peripheral sodium channel 1 # AltName SCN9A_HUMAN Sodium channel protein type IX subunit alpha # AltName SCN9A_HUMAN Voltage-gated sodium channel subunit alpha Nav1.7 # CCDS CCDS46441 -. [Q15858-3] # DISEASE SCN9A_HUMAN Febrile seizures, familial, 3B (FEB3B) [MIM 613863] Seizures associated with febrile episodes in childhood without any evidence of intracranial infection or defined pathologic or traumatic cause. It is a common condition, affecting 2-5% of children aged 3 months to 5 years. The majority are simple febrile seizures (generally defined as generalized onset, single seizures with a duration of less than 30 minutes). Complex febrile seizures are characterized by focal onset, duration greater than 30 minutes, and/or more than one seizure in a 24 hour period. The likelihood of developing epilepsy following simple febrile seizures is low. Complex febrile seizures are associated with a moderately increased incidence of epilepsy. {ECO 0000269|PubMed 19763161}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE SCN9A_HUMAN Generalized epilepsy with febrile seizures plus 7 (GEFS+7) [MIM 613863] A rare autosomal dominant, familial condition with incomplete penetrance and large intrafamilial variability. Patients display febrile seizures persisting sometimes beyond the age of 6 years and/or a variety of afebrile seizure types. This disease combines febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity. {ECO 0000269|PubMed 19763161}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE SCN9A_HUMAN Indifference to pain, congenital, autosomal recessive (CIP) [MIM 243000] A disorder characterized by congenital inability to perceive any form of pain, in any part of the body. All other sensory modalities are preserved and the peripheral and central nervous systems are apparently intact. Patients perceive the sensations of touch, warm and cold temperature, proprioception, tickle and pressure, but not painful stimuli. There is no evidence of a motor or sensory neuropathy, either axonal or demyelinating. {ECO 0000269|PubMed 20635406}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE SCN9A_HUMAN Paroxysmal extreme pain disorder (PEPD) [MIM 167400] Autosomal dominant paroxysmal disorder of pain and autonomic dysfunction. The distinctive features are paroxysmal episodes of burning pain in the rectal, ocular, and mandibular areas accompanied by autonomic manifestations such as skin flushing. {ECO 0000269|PubMed 17145499, ECO 0000269|PubMed 18945915, ECO 0000269|PubMed 25285947}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE SCN9A_HUMAN Primary erythermalgia (PERYTHM) [MIM 133020] Autosomal dominant disease characterized by recurrent episodes of severe pain associated with redness and warmth in the feet or hands. {ECO 0000269|PubMed 14985375, ECO 0000269|PubMed 15955112, ECO 0000269|PubMed 15958509, ECO 0000269|PubMed 16216943, ECO 0000269|PubMed 16392115, ECO 0000269|PubMed 18945915, ECO 0000269|PubMed 19369487, ECO 0000269|PubMed 24311784}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DOMAIN SCN9A_HUMAN The sequence contains 4 internal repeats, each with 5 hydrophobic segments (S1,S2,S3,S5,S6) and one positively charged segment (S4). Segments S4 are probably the voltage-sensors and are characterized by a series of positively charged amino acids at every third position. {ECO 0000305|PubMed 26680203}. # DrugBank DB00243 Ranolazine # DrugBank DB00281 Lidocaine # DrugBank DB00313 Valproic Acid # DrugBank DB00909 Zonisamide # DrugBank DB06201 Rufinamide # DrugBank DB06218 Lacosamide # Ensembl ENST00000303354 ENSP00000304748; ENSG00000169432. [Q15858-1] # Ensembl ENST00000409435 ENSP00000386330; ENSG00000169432. [Q15858-1] # Ensembl ENST00000409672 ENSP00000386306; ENSG00000169432. [Q15858-3] # ExpressionAtlas Q15858 baseline and differential # FUNCTION SCN9A_HUMAN Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient (PubMed 7720699, PubMed 17167479, PubMed 25240195, PubMed 26680203, PubMed 15385606, PubMed 16988069, PubMed 17145499, PubMed 19369487, PubMed 24311784). It is a tetrodotoxin-sensitive Na(+) channel isoform (PubMed 7720699). Plays a role in pain mechanisms, especially in the development of inflammatory pain (PubMed 17167479, PubMed 17145499, PubMed 19369487, PubMed 24311784). {ECO 0000269|PubMed 15178348, ECO 0000269|PubMed 15385606, ECO 0000269|PubMed 16988069, ECO 0000269|PubMed 17145499, ECO 0000269|PubMed 17167479, ECO 0000269|PubMed 19369487, ECO 0000269|PubMed 24311784, ECO 0000269|PubMed 25240195, ECO 0000269|PubMed 26680203, ECO 0000269|PubMed 7720699}. # GO_component GO:0001518 voltage-gated sodium channel complex; IEA:Ensembl. # GO_component GO:0005887 integral component of plasma membrane; IMP:UniProtKB. # GO_component GO:0042995 cell projection; IEA:UniProtKB-SubCell. # GO_function GO:0005248 voltage-gated sodium channel activity; IDA:UniProtKB. # GO_function GO:0031402 sodium ion binding; IEA:Ensembl. # GO_process GO:0006814 sodium ion transport; TAS:ProtInc. # GO_process GO:0006954 inflammatory response; IEA:Ensembl. # GO_process GO:0009636 response to toxic substance; IEA:Ensembl. # GO_process GO:0009791 post-embryonic development; IEA:Ensembl. # GO_process GO:0019228 neuronal action potential; IBA:GO_Central. # GO_process GO:0019233 sensory perception of pain; IMP:UniProtKB. # GO_process GO:0035725 sodium ion transmembrane transport; IDA:UniProtKB. # GO_process GO:0048266 behavioral response to pain; IEA:Ensembl. # GO_process GO:0086010 membrane depolarization during action potential; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0008150 biological_process # GOslim_process GO:0050877 neurological system process # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.20.120.350 -; 4. # Genevisible Q15858 HS # HGNC HGNC:10597 SCN9A # IntAct Q15858 2 # InterPro IPR000048 IQ_motif_EF-hand-BS # InterPro IPR001696 Na_channel_asu # InterPro IPR005821 Ion_trans_dom # InterPro IPR010526 Na_trans_assoc # InterPro IPR024583 Na_trans_cytopl # InterPro IPR027359 Channel_four-helix_dom # InterPro IPR028803 SCN9A # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00265 [Nervous system disease] Congenital pain insensitivity with anhidrosis (CIPA/HSAN4) # KEGG_Disease H00771 [Cardiovascular disease; Inherited metabolic disease] Primary erythromelalgia # KEGG_Disease H00772 [Nervous system disease] Paroxysmal extreme pain disorder (PEPD) # KEGG_Disease H00774 [Nervous system disease] Nav1.7-associated congenital insensitivity to pain (CIP) # KEGG_Disease H00783 [Nervous system disease; Epilepsy] Dravet syndrome/ Severe myoclonic epilepsy in infancy (SMEI) # MIM 133020 phenotype # MIM 167400 phenotype # MIM 243000 phenotype # MIM 603415 gene # MIM 613863 phenotype # Organism SCN9A_HUMAN Homo sapiens (Human) # Orphanet 1956 Erythromelalgia # Orphanet 306577 Sodium channelopathy-related small fiber neuropathy # Orphanet 33069 Dravet syndrome # Orphanet 36387 Generalized epilepsy with febrile seizures-plus # Orphanet 46348 Paroxysmal extreme pain disorder # Orphanet 88642 Channelopathy-associated congenital insensitivity to pain # Orphanet 90026 Primary erythermalgia # Orphanet 970 Hereditary sensory and autonomic neuropathy type 2 # PANTHER PTHR10037:SF221 PTHR10037:SF221; 2 # PDB 5EK0 X-ray; 3.53 A; A/B/C/D=1527-1559, A/B/C/D=1581-1622 # PIR S54771 S54771 # PRINTS PR00170 NACHANNEL # PTM SCN9A_HUMAN Phosphorylation at Ser-1490 by PKC in a highly conserved cytoplasmic loop increases peak sodium currents. {ECO 0000269|PubMed 25240195}. # PTM SCN9A_HUMAN Ubiquitinated by NEDD4L; which may promote its endocytosis. Does not seem to be ubiquitinated by NEDD4. {ECO 0000250|UniProtKB Q62205}. # Pfam PF00520 Ion_trans; 4 # Pfam PF06512 Na_trans_assoc # Pfam PF11933 Na_trans_cytopl # Proteomes UP000005640 Chromosome 2 # Reactome R-HSA-445095 Interaction between L1 and Ankyrins # Reactome R-HSA-5576892 Phase 0 - rapid depolarisation # RecName Sodium channel protein type 9 subunit alpha {ECO 0000305} # RefSeq NP_002968 NM_002977.3 # RefSeq XP_005246814 XM_005246757.2. [Q15858-1] # RefSeq XP_011509918 XM_011511616.2. [Q15858-1] # RefSeq XP_011509919 XM_011511617.2. [Q15858-2] # RefSeq XP_011509920 XM_011511618.2. [Q15858-4] # SIMILARITY Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.7/SCN9A subfamily. {ECO 0000305}. # SIMILARITY Contains 1 IQ domain. {ECO 0000305}. # SMART SM00015 IQ # SUBCELLULAR LOCATION SCN9A_HUMAN Cell membrane {ECO 0000269|PubMed 15385606, ECO 0000269|PubMed 17167479, ECO 0000269|PubMed 19369487, ECO 0000269|PubMed 24311784, ECO 0000269|PubMed 25240195, ECO 0000269|PubMed 26680203, ECO 0000269|PubMed 7720699}; Multi- pass membrane protein {ECO 0000305}. Cell projection {ECO 0000250|UniProtKB O08562}. Note=In neurite terminals. {ECO 0000250|UniProtKB O08562}. # SUBUNIT SCN9A_HUMAN The sodium channel complex consists of a large, channel- forming alpha subunit and 2-3 smaller, ancillary beta subunits (PubMed 7720699, PubMed 17167479, PubMed 25240195). Interacts with NEDD4 and NEDD4L (By similarity). {ECO 0000250|UniProtKB Q62205, ECO 0000269|PubMed 17167479, ECO 0000269|PubMed 25240195, ECO 0000269|PubMed 7720699}. # TCDB 1.A.1.10 the voltage-gated ion channel (vic) superfamily # TISSUE SPECIFICITY SCN9A_HUMAN Expressed strongly in dorsal root ganglion, with only minor levels elsewhere in the body, smooth muscle cells, MTC cell line and C-cell carcinoma. Isoform 1 is expressed preferentially in the central and peripheral nervous system. Isoform 2 is expressed preferentially in the dorsal root ganglion. {ECO 0000269|PubMed 15178348, ECO 0000269|PubMed 15302875, ECO 0000269|PubMed 7720699, ECO 0000269|PubMed 9169448}. # UCSC uc002udr human. [Q15858-1] # WEB RESOURCE SCN9A_HUMAN Name=Protein Spotlight; Note=Silent pain - Issue 102 of February 2009; URL="http //web.expasy.org/spotlight/back_issues/102"; # WEB RESOURCE SCN9A_HUMAN Name=Wikipedia; Note=SCN9A entry; URL="https //en.wikipedia.org/wiki/SCN9A"; # eggNOG ENOG410XNP6 LUCA # eggNOG KOG2301 Eukaryota BLAST swissprot:SCN9A_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SCN9A_HUMAN BioCyc ZFISH:ENSG00000169432-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000169432-MONOMER COXPRESdb 6335 http://coxpresdb.jp/data/gene/6335.shtml CleanEx HS_SCN9A http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SCN9A DOI 10.1001/archneur.62.10.1587 http://dx.doi.org/10.1001/archneur.62.10.1587 DOI 10.1002/ana.20776 http://dx.doi.org/10.1002/ana.20776 DOI 10.1002/humu.21325 http://dx.doi.org/10.1002/humu.21325 DOI 10.1016/j.febslet.2004.04.092 http://dx.doi.org/10.1016/j.febslet.2004.04.092 DOI 10.1016/j.febslet.2014.09.011 http://dx.doi.org/10.1016/j.febslet.2014.09.011 DOI 10.1016/j.neuron.2006.10.006 http://dx.doi.org/10.1016/j.neuron.2006.10.006 DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1038/nature05413 http://dx.doi.org/10.1038/nature05413 DOI 10.1073/pnas.0602813103 http://dx.doi.org/10.1073/pnas.0602813103 DOI 10.1074/jbc.272.23.14805 http://dx.doi.org/10.1074/jbc.272.23.14805 DOI 10.1074/jbc.M113.502211 http://dx.doi.org/10.1074/jbc.M113.502211 DOI 10.1074/jbc.M406387200 http://dx.doi.org/10.1074/jbc.M406387200 DOI 10.1093/brain/awh514 http://dx.doi.org/10.1093/brain/awh514 DOI 10.1093/brain/awp078 http://dx.doi.org/10.1093/brain/awp078 DOI 10.1097/ALN.0000000000000476 http://dx.doi.org/10.1097/ALN.0000000000000476 DOI 10.1111/j.0022-202X.2005.23737.x http://dx.doi.org/10.1111/j.0022-202X.2005.23737.x DOI 10.1126/science.aac5464 http://dx.doi.org/10.1126/science.aac5464 DOI 10.1136/jmg.2003.012153 http://dx.doi.org/10.1136/jmg.2003.012153 DOI 10.1212/01.wnl.0000231514.33603.1e http://dx.doi.org/10.1212/01.wnl.0000231514.33603.1e DOI 10.1371/journal.pgen.1000649 http://dx.doi.org/10.1371/journal.pgen.1000649 DOI 10.1523/JNEUROSCI.2695-04.2004 http://dx.doi.org/10.1523/JNEUROSCI.2695-04.2004 DOI 10.1523/JNEUROSCI.3443-08.2008 http://dx.doi.org/10.1523/JNEUROSCI.3443-08.2008 DrugBank DB00243 http://www.drugbank.ca/drugs/DB00243 DrugBank DB00281 http://www.drugbank.ca/drugs/DB00281 DrugBank DB00313 http://www.drugbank.ca/drugs/DB00313 DrugBank DB00909 http://www.drugbank.ca/drugs/DB00909 DrugBank DB06201 http://www.drugbank.ca/drugs/DB06201 DrugBank DB06218 http://www.drugbank.ca/drugs/DB06218 EMBL AC074101 http://www.ebi.ac.uk/ena/data/view/AC074101 EMBL AC107082 http://www.ebi.ac.uk/ena/data/view/AC107082 EMBL AC108146 http://www.ebi.ac.uk/ena/data/view/AC108146 EMBL AJ310882 http://www.ebi.ac.uk/ena/data/view/AJ310882 EMBL AJ310883 http://www.ebi.ac.uk/ena/data/view/AJ310883 EMBL AJ310897 http://www.ebi.ac.uk/ena/data/view/AJ310897 EMBL AJ580918 http://www.ebi.ac.uk/ena/data/view/AJ580918 EMBL AJ580919 http://www.ebi.ac.uk/ena/data/view/AJ580919 EMBL AY682084 http://www.ebi.ac.uk/ena/data/view/AY682084 EMBL AY682085 http://www.ebi.ac.uk/ena/data/view/AY682085 EMBL AY682086 http://www.ebi.ac.uk/ena/data/view/AY682086 EMBL DQ857292 http://www.ebi.ac.uk/ena/data/view/DQ857292 EMBL X82835 http://www.ebi.ac.uk/ena/data/view/X82835 Ensembl ENST00000303354 http://www.ensembl.org/id/ENST00000303354 Ensembl ENST00000409435 http://www.ensembl.org/id/ENST00000409435 Ensembl ENST00000409672 http://www.ensembl.org/id/ENST00000409672 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0001518 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001518 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0042995 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042995 GO_function GO:0005248 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005248 GO_function GO:0031402 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031402 GO_process GO:0006814 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006814 GO_process GO:0006954 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006954 GO_process GO:0009636 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009636 GO_process GO:0009791 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009791 GO_process GO:0019228 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019228 GO_process GO:0019233 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019233 GO_process GO:0035725 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035725 GO_process GO:0048266 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048266 GO_process GO:0086010 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086010 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.20.120.350 http://www.cathdb.info/version/latest/superfamily/1.20.120.350 GeneCards SCN9A http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SCN9A GeneID 6335 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6335 GeneTree ENSGT00830000128242 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00830000128242 HGNC HGNC:10597 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10597 HOVERGEN HBG053100 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG053100&db=HOVERGEN HPA CAB013679 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB013679 HPA HPA061843 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA061843 InParanoid Q15858 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q15858 IntAct Q15858 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q15858* InterPro IPR000048 http://www.ebi.ac.uk/interpro/entry/IPR000048 InterPro IPR001696 http://www.ebi.ac.uk/interpro/entry/IPR001696 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR010526 http://www.ebi.ac.uk/interpro/entry/IPR010526 InterPro IPR024583 http://www.ebi.ac.uk/interpro/entry/IPR024583 InterPro IPR027359 http://www.ebi.ac.uk/interpro/entry/IPR027359 InterPro IPR028803 http://www.ebi.ac.uk/interpro/entry/IPR028803 Jabion 6335 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6335 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00265 http://www.genome.jp/dbget-bin/www_bget?H00265 KEGG_Disease H00771 http://www.genome.jp/dbget-bin/www_bget?H00771 KEGG_Disease H00772 http://www.genome.jp/dbget-bin/www_bget?H00772 KEGG_Disease H00774 http://www.genome.jp/dbget-bin/www_bget?H00774 KEGG_Disease H00783 http://www.genome.jp/dbget-bin/www_bget?H00783 KEGG_Gene hsa:6335 http://www.genome.jp/dbget-bin/www_bget?hsa:6335 KEGG_Orthology KO:K04841 http://www.genome.jp/dbget-bin/www_bget?KO:K04841 MIM 133020 http://www.ncbi.nlm.nih.gov/omim/133020 MIM 167400 http://www.ncbi.nlm.nih.gov/omim/167400 MIM 243000 http://www.ncbi.nlm.nih.gov/omim/243000 MIM 603415 http://www.ncbi.nlm.nih.gov/omim/603415 MIM 613863 http://www.ncbi.nlm.nih.gov/omim/613863 OMA VSQNVRW http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=VSQNVRW Orphanet 1956 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1956 Orphanet 306577 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=306577 Orphanet 33069 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=33069 Orphanet 36387 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=36387 Orphanet 46348 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=46348 Orphanet 88642 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=88642 Orphanet 90026 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=90026 Orphanet 970 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=970 OrthoDB EOG091G00FK http://cegg.unige.ch/orthodb/results?searchtext=EOG091G00FK PANTHER PTHR10037:SF221 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10037:SF221 PDB 5EK0 http://www.ebi.ac.uk/pdbe-srv/view/entry/5EK0 PDBsum 5EK0 http://www.ebi.ac.uk/pdbsum/5EK0 PRINTS PR00170 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00170 PSORT swissprot:SCN9A_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SCN9A_HUMAN PSORT-B swissprot:SCN9A_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SCN9A_HUMAN PSORT2 swissprot:SCN9A_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SCN9A_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF06512 http://pfam.xfam.org/family/PF06512 Pfam PF11933 http://pfam.xfam.org/family/PF11933 PharmGKB PA35010 http://www.pharmgkb.org/do/serve?objId=PA35010&objCls=Gene Phobius swissprot:SCN9A_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SCN9A_HUMAN PhylomeDB Q15858 http://phylomedb.org/?seqid=Q15858 ProteinModelPortal Q15858 http://www.proteinmodelportal.org/query/uniprot/Q15858 PubMed 14985375 http://www.ncbi.nlm.nih.gov/pubmed/14985375 PubMed 15178348 http://www.ncbi.nlm.nih.gov/pubmed/15178348 PubMed 15302875 http://www.ncbi.nlm.nih.gov/pubmed/15302875 PubMed 15385606 http://www.ncbi.nlm.nih.gov/pubmed/15385606 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 PubMed 15955112 http://www.ncbi.nlm.nih.gov/pubmed/15955112 PubMed 15958509 http://www.ncbi.nlm.nih.gov/pubmed/15958509 PubMed 16216943 http://www.ncbi.nlm.nih.gov/pubmed/16216943 PubMed 16392115 http://www.ncbi.nlm.nih.gov/pubmed/16392115 PubMed 16702558 http://www.ncbi.nlm.nih.gov/pubmed/16702558 PubMed 16988069 http://www.ncbi.nlm.nih.gov/pubmed/16988069 PubMed 17145499 http://www.ncbi.nlm.nih.gov/pubmed/17145499 PubMed 17167479 http://www.ncbi.nlm.nih.gov/pubmed/17167479 PubMed 18945915 http://www.ncbi.nlm.nih.gov/pubmed/18945915 PubMed 19369487 http://www.ncbi.nlm.nih.gov/pubmed/19369487 PubMed 19763161 http://www.ncbi.nlm.nih.gov/pubmed/19763161 PubMed 20635406 http://www.ncbi.nlm.nih.gov/pubmed/20635406 PubMed 24311784 http://www.ncbi.nlm.nih.gov/pubmed/24311784 PubMed 25240195 http://www.ncbi.nlm.nih.gov/pubmed/25240195 PubMed 25285947 http://www.ncbi.nlm.nih.gov/pubmed/25285947 PubMed 26680203 http://www.ncbi.nlm.nih.gov/pubmed/26680203 PubMed 7720699 http://www.ncbi.nlm.nih.gov/pubmed/7720699 PubMed 9169448 http://www.ncbi.nlm.nih.gov/pubmed/9169448 Reactome R-HSA-445095 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-445095 Reactome R-HSA-5576892 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576892 RefSeq NP_002968 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_002968 RefSeq XP_005246814 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005246814 RefSeq XP_011509918 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011509918 RefSeq XP_011509919 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011509919 RefSeq XP_011509920 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011509920 SMART SM00015 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00015 SMR Q15858 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q15858 STRING 9606.ENSP00000386306 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000386306&targetmode=cogs TCDB 1.A.1.10 http://www.tcdb.org/search/result.php?tc=1.A.1.10 UCSC uc002udr http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002udr&org=rat UniGene Hs.439145 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.439145 UniProtKB SCN9A_HUMAN http://www.uniprot.org/uniprot/SCN9A_HUMAN UniProtKB-AC Q15858 http://www.uniprot.org/uniprot/Q15858 charge swissprot:SCN9A_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SCN9A_HUMAN eggNOG ENOG410XNP6 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XNP6 eggNOG KOG2301 http://eggnogapi.embl.de/nog_data/html/tree/KOG2301 epestfind swissprot:SCN9A_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SCN9A_HUMAN garnier swissprot:SCN9A_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SCN9A_HUMAN helixturnhelix swissprot:SCN9A_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SCN9A_HUMAN hmoment swissprot:SCN9A_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SCN9A_HUMAN iep swissprot:SCN9A_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SCN9A_HUMAN inforesidue swissprot:SCN9A_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SCN9A_HUMAN neXtProt NX_Q15858 http://www.nextprot.org/db/entry/NX_Q15858 octanol swissprot:SCN9A_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SCN9A_HUMAN pepcoil swissprot:SCN9A_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SCN9A_HUMAN pepdigest swissprot:SCN9A_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SCN9A_HUMAN pepinfo swissprot:SCN9A_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SCN9A_HUMAN pepnet swissprot:SCN9A_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SCN9A_HUMAN pepstats swissprot:SCN9A_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SCN9A_HUMAN pepwheel swissprot:SCN9A_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SCN9A_HUMAN pepwindow swissprot:SCN9A_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SCN9A_HUMAN sigcleave swissprot:SCN9A_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SCN9A_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS AT132_HUMAN Event=Alternative splicing; Named isoforms=3; Name=A; IsoId=Q9NQ11-1; Sequence=Displayed; Name=B; IsoId=Q9NQ11-2; Sequence=VSP_007310, VSP_007311, VSP_007312; Name=3; IsoId=Q9NQ11-3; Sequence=VSP_007310; # BioGrid 116973 71 # CATALYTIC ACTIVITY AT132_HUMAN ATP + H(2)O = ADP + phosphate. # CCDS CCDS175 -. [Q9NQ11-1] # CCDS CCDS44072 -. [Q9NQ11-2] # CCDS CCDS44073 -. [Q9NQ11-3] # ChiTaRS ATP13A2 human # DISEASE AT132_HUMAN Ceroid lipofuscinosis, neuronal, 12 (CLN12) [MIM 606693] A form of neuronal ceroid lipofuscinosis characterized by rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy. Cognitive decline may also occur. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material. {ECO 0000269|PubMed 22388936}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE AT132_HUMAN Kufor-Rakeb syndrome (KRS) [MIM 606693] A rare form of autosomal recessive juvenile or early-onset, levodopa-responsive parkinsonism. In addition to typical parkinsonian signs, clinical manifestations of Kufor-Rakeb syndrome include behavioral problems, facial tremor, pyramidal tract dysfunction, supranuclear gaze palsy, and dementia. {ECO 0000269|PubMed 16964263, ECO 0000269|PubMed 17485642, ECO 0000269|PubMed 18413573, ECO 0000269|PubMed 20683840, ECO 0000269|PubMed 20853184, ECO 0000269|PubMed 21542062}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000326735 ENSP00000327214; ENSG00000159363. [Q9NQ11-1] # Ensembl ENST00000341676 ENSP00000341115; ENSG00000159363. [Q9NQ11-2] # Ensembl ENST00000452699 ENSP00000413307; ENSG00000159363. [Q9NQ11-3] # ExpressionAtlas Q9NQ11 baseline and differential # FUNCTION AT132_HUMAN May play a role in intracellular cation homeostasis and the maintenance of neuronal integrity. {ECO 0000269|PubMed 22186024}. # GO_component GO:0005764 lysosome; IDA:UniProtKB. # GO_component GO:0005765 lysosomal membrane; IDA:UniProtKB. # GO_component GO:0005770 late endosome; IDA:ParkinsonsUK-UCL. # GO_component GO:0005771 multivesicular body; IDA:ParkinsonsUK-UCL. # GO_component GO:0005776 autophagosome; IDA:ParkinsonsUK-UCL. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0012506 vesicle membrane; IEA:Ensembl. # GO_component GO:0016021 integral component of membrane; NAS:ParkinsonsUK-UCL. # GO_component GO:0030133 transport vesicle; IDA:ParkinsonsUK-UCL. # GO_component GO:0031982 vesicle; IDA:ParkinsonsUK-UCL. # GO_component GO:0032585 multivesicular body membrane; NAS:ParkinsonsUK-UCL. # GO_component GO:0043005 neuron projection; IDA:ParkinsonsUK-UCL. # GO_component GO:0043025 neuronal cell body; IDA:ParkinsonsUK-UCL. # GO_component GO:0043202 lysosomal lumen; TAS:Reactome. # GO_component GO:1905103 integral component of lysosomal membrane; IDA:ParkinsonsUK-UCL. # GO_function GO:0005524 ATP binding; IEA:UniProtKB-KW. # GO_function GO:0008270 zinc ion binding; ISS:ParkinsonsUK-UCL. # GO_function GO:0016887 ATPase activity; NAS:ParkinsonsUK-UCL. # GO_function GO:0019829 cation-transporting ATPase activity; IBA:GO_Central. # GO_function GO:0030145 manganese ion binding; ISS:ParkinsonsUK-UCL. # GO_function GO:0070300 phosphatidic acid binding; IDA:ParkinsonsUK-UCL. # GO_function GO:0080025 phosphatidylinositol-3,5-bisphosphate binding; IDA:ParkinsonsUK-UCL. # GO_function GO:1903135 cupric ion binding; ISS:ParkinsonsUK-UCL. # GO_process GO:0006874 cellular calcium ion homeostasis; IDA:ParkinsonsUK-UCL. # GO_process GO:0006879 cellular iron ion homeostasis; IMP:ParkinsonsUK-UCL. # GO_process GO:0006882 cellular zinc ion homeostasis; IMP:ParkinsonsUK-UCL. # GO_process GO:0010821 regulation of mitochondrion organization; IDA:ParkinsonsUK-UCL. # GO_process GO:0016241 regulation of macroautophagy; IMP:ParkinsonsUK-UCL. # GO_process GO:0016243 regulation of autophagosome size; IDA:ParkinsonsUK-UCL. # GO_process GO:0030003 cellular cation homeostasis; TAS:ParkinsonsUK-UCL. # GO_process GO:0033157 regulation of intracellular protein transport; NAS:ParkinsonsUK-UCL. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0034599 cellular response to oxidative stress; IMP:ParkinsonsUK-UCL. # GO_process GO:0046777 protein autophosphorylation; TAS:ParkinsonsUK-UCL. # GO_process GO:0050714 positive regulation of protein secretion; IMP:ParkinsonsUK-UCL. # GO_process GO:0052548 regulation of endopeptidase activity; IMP:ParkinsonsUK-UCL. # GO_process GO:0055069 zinc ion homeostasis; IMP:ParkinsonsUK-UCL. # GO_process GO:0071287 cellular response to manganese ion; IMP:ParkinsonsUK-UCL. # GO_process GO:0071294 cellular response to zinc ion; TAS:ParkinsonsUK-UCL. # GO_process GO:1901215 negative regulation of neuron death; ISS:ParkinsonsUK-UCL. # GO_process GO:1903146 regulation of mitophagy; TAS:ParkinsonsUK-UCL. # GO_process GO:1903543 positive regulation of exosomal secretion; IDA:ParkinsonsUK-UCL. # GO_process GO:1904714 regulation of chaperone-mediated autophagy; TAS:ParkinsonsUK-UCL. # GO_process GO:1905037 autophagosome organization; IDA:ParkinsonsUK-UCL. # GO_process GO:1905122 polyamine import; IDA:ParkinsonsUK-UCL. # GO_process GO:1905123 regulation of glucosylceramidase activity; IEA:Ensembl. # GO_process GO:1905165 regulation of lysosomal protein catabolic process; IMP:ParkinsonsUK-UCL. # GO_process GO:1905166 negative regulation of lysosomal protein catabolic process; TAS:ParkinsonsUK-UCL. # GO_process GO:1990938 peptidyl-aspartic acid autophosphorylation; IMP:ParkinsonsUK-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005764 lysosome # GOslim_component GO:0005768 endosome # GOslim_component GO:0005773 vacuole # GOslim_component GO:0031410 cytoplasmic vesicle # GOslim_component GO:0043226 organelle # GOslim_function GO:0008289 lipid binding # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006464 cellular protein modification process # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 2.70.150.10 -; 1. # Gene3D 3.40.1110.10 -; 2. # Gene3D 3.40.50.1000 -; 2. # Genevisible Q9NQ11 HS # HGNC HGNC:30213 ATP13A2 # INTERACTION AT132_HUMAN Q2M2I8 AAK1; NbExp=2; IntAct=EBI-6308763, EBI-1383433; O60238 BNIP3L; NbExp=2; IntAct=EBI-6308763, EBI-849893; O14976 GAK; NbExp=2; IntAct=EBI-6308763, EBI-714707; Q9UBN7 HDAC6; NbExp=2; IntAct=EBI-6308763, EBI-301697; P11142 HSPA8; NbExp=2; IntAct=EBI-6308763, EBI-351896; Q9BT88 SYT11; NbExp=2; IntAct=EBI-6308763, EBI-751770; O95070 YIF1A; NbExp=2; IntAct=EBI-6308763, EBI-2799703; # IntAct Q9NQ11 49 # InterPro IPR001757 P_typ_ATPase # InterPro IPR006544 P-type_TPase_V # InterPro IPR008250 ATPase_P-typ_transduc_dom_A # InterPro IPR018303 ATPase_P-typ_P_site # InterPro IPR023214 HAD-like_dom # InterPro IPR023299 ATPase_P-typ_cyto_domN # KEGG_Brite ko01000 Enzymes # KEGG_Disease H00057 [Neurodegenerative disease] Parkinson's disease (PD) # KEGG_Disease H00833 [Nervous system disease] Aceruloplasminemia # KEGG_Disease H01600 [Neurodegenerative disease] Parkinsonian syndrome # MIM 606693 phenotype # MIM 610513 gene # Organism AT132_HUMAN Homo sapiens (Human) # Orphanet 306674 Kufor-Rakeb syndrome # Orphanet 314632 Parkinsonim due to ATP13A2 deficiency # PROSITE PS00154 ATPASE_E1_E2 # Pfam PF00122 E1-E2_ATPase # Pfam PF12409 P5-ATPase # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-936837 Ion transport by P-type ATPases # RecName AT132_HUMAN Probable cation-transporting ATPase 13A2 # RefSeq NP_001135445 NM_001141973.2. [Q9NQ11-3] # RefSeq NP_001135446 NM_001141974.2. [Q9NQ11-2] # RefSeq NP_071372 NM_022089.3. [Q9NQ11-1] # SEQUENCE CAUTION Sequence=CAA08912.1; Type=Frameshift; Positions=1054; Evidence={ECO 0000305}; # SIMILARITY Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type V subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION AT132_HUMAN Membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. Lysosome {ECO 0000269|PubMed 21542062, ECO 0000269|PubMed 22186024}. # SUPFAM SSF56784 SSF56784; 3 # SUPFAM SSF81660 SSF81660; 2 # TCDB 3.A.3.10 the p-type atpase (p-atpase) superfamily # TIGRFAMs TIGR01494 ATPase_P-type; 2 # TIGRFAMs TIGR01657 P-ATPase-V # TISSUE SPECIFICITY Expressed in brain; protein levels are markedly increased in brain from subjects with Parkinson disease and subjects with dementia with Lewy bodies. Detected in pyramidal neurons located throughout the cingulate cortex (at protein level). In the substantia nigra, it is found in neuromelanin- positive dopaminergic neurons (at protein level). {ECO:0000269|PubMed 22186024}. # UCSC uc001baa human. [Q9NQ11-1] # eggNOG ENOG410XRCA LUCA # eggNOG KOG0208 Eukaryota BLAST swissprot:AT132_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:AT132_HUMAN BioCyc ZFISH:ENSG00000159363-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000159363-MONOMER COXPRESdb 23400 http://coxpresdb.jp/data/gene/23400.shtml CleanEx HS_ATP13A2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ATP13A2 DOI 10.1002/humu.20877 http://dx.doi.org/10.1002/humu.20877 DOI 10.1002/humu.21527 http://dx.doi.org/10.1002/humu.21527 DOI 10.1002/mds.22996 http://dx.doi.org/10.1002/mds.22996 DOI 10.1007/s10048-010-0259-0 http://dx.doi.org/10.1007/s10048-010-0259-0 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1038/ng1884 http://dx.doi.org/10.1038/ng1884 DOI 10.1093/hmg/ddr606 http://dx.doi.org/10.1093/hmg/ddr606 DOI 10.1093/hmg/dds089 http://dx.doi.org/10.1093/hmg/dds089 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 DOI 10.1212/01.wnl.0000260963.08711.08 http://dx.doi.org/10.1212/01.wnl.0000260963.08711.08 DOI 10.1212/01.wnl.0000310427.72236.68 http://dx.doi.org/10.1212/01.wnl.0000310427.72236.68 DOI 10.1212/01.wnl.0000335167.72412.68 http://dx.doi.org/10.1212/01.wnl.0000335167.72412.68 EC_number EC:3.6.3.- http://www.genome.jp/dbget-bin/www_bget?EC:3.6.3.- EMBL AJ009947 http://www.ebi.ac.uk/ena/data/view/AJ009947 EMBL AK290210 http://www.ebi.ac.uk/ena/data/view/AK290210 EMBL AL049569 http://www.ebi.ac.uk/ena/data/view/AL049569 EMBL AL354615 http://www.ebi.ac.uk/ena/data/view/AL354615 EMBL AL833966 http://www.ebi.ac.uk/ena/data/view/AL833966 EMBL AY461712 http://www.ebi.ac.uk/ena/data/view/AY461712 EMBL BC030267 http://www.ebi.ac.uk/ena/data/view/BC030267 EMBL CH471134 http://www.ebi.ac.uk/ena/data/view/CH471134 EMBL CH471134 http://www.ebi.ac.uk/ena/data/view/CH471134 ENZYME 3.6.3.- http://enzyme.expasy.org/EC/3.6.3.- Ensembl ENST00000326735 http://www.ensembl.org/id/ENST00000326735 Ensembl ENST00000341676 http://www.ensembl.org/id/ENST00000341676 Ensembl ENST00000452699 http://www.ensembl.org/id/ENST00000452699 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005764 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005764 GO_component GO:0005765 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005765 GO_component GO:0005770 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005770 GO_component GO:0005771 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005771 GO_component GO:0005776 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005776 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0012506 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0012506 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0030133 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030133 GO_component GO:0031982 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031982 GO_component GO:0032585 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032585 GO_component GO:0043005 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043005 GO_component GO:0043025 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043025 GO_component GO:0043202 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043202 GO_component GO:1905103 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1905103 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0008270 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008270 GO_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GO_function GO:0019829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019829 GO_function GO:0030145 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030145 GO_function GO:0070300 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070300 GO_function GO:0080025 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0080025 GO_function GO:1903135 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903135 GO_process GO:0006874 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006874 GO_process GO:0006879 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006879 GO_process GO:0006882 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006882 GO_process GO:0010821 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010821 GO_process GO:0016241 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016241 GO_process GO:0016243 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016243 GO_process GO:0030003 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030003 GO_process GO:0033157 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033157 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0034599 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034599 GO_process GO:0046777 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046777 GO_process GO:0050714 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050714 GO_process GO:0052548 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0052548 GO_process GO:0055069 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055069 GO_process GO:0071287 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071287 GO_process GO:0071294 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071294 GO_process GO:1901215 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1901215 GO_process GO:1903146 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903146 GO_process GO:1903543 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903543 GO_process GO:1904714 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1904714 GO_process GO:1905037 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1905037 GO_process GO:1905122 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1905122 GO_process GO:1905123 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1905123 GO_process GO:1905165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1905165 GO_process GO:1905166 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1905166 GO_process GO:1990938 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1990938 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005764 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005764 GOslim_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GOslim_component GO:0005773 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005773 GOslim_component GO:0031410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0008289 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008289 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006464 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006464 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 2.70.150.10 http://www.cathdb.info/version/latest/superfamily/2.70.150.10 Gene3D 3.40.1110.10 http://www.cathdb.info/version/latest/superfamily/3.40.1110.10 Gene3D 3.40.50.1000 http://www.cathdb.info/version/latest/superfamily/3.40.50.1000 GeneCards ATP13A2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ATP13A2 GeneID 23400 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=23400 GeneTree ENSGT00530000063001 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000063001 HGNC HGNC:30213 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:30213 HOGENOM HOG000171813 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000171813&db=HOGENOM6 HOVERGEN HBG065757 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG065757&db=HOVERGEN HPA CAB037038 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB037038 HPA CAB037111 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB037111 HPA HPA050910 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA050910 HPA HPA054717 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA054717 InParanoid Q9NQ11 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9NQ11 IntAct Q9NQ11 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9NQ11* IntEnz 3.6.3 http://www.ebi.ac.uk/intenz/query?cmd=Search&q=3.6.3 InterPro IPR001757 http://www.ebi.ac.uk/interpro/entry/IPR001757 InterPro IPR006544 http://www.ebi.ac.uk/interpro/entry/IPR006544 InterPro IPR008250 http://www.ebi.ac.uk/interpro/entry/IPR008250 InterPro IPR018303 http://www.ebi.ac.uk/interpro/entry/IPR018303 InterPro IPR023214 http://www.ebi.ac.uk/interpro/entry/IPR023214 InterPro IPR023299 http://www.ebi.ac.uk/interpro/entry/IPR023299 Jabion 23400 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=23400 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Disease H00057 http://www.genome.jp/dbget-bin/www_bget?H00057 KEGG_Disease H00833 http://www.genome.jp/dbget-bin/www_bget?H00833 KEGG_Disease H01600 http://www.genome.jp/dbget-bin/www_bget?H01600 KEGG_Gene hsa:23400 http://www.genome.jp/dbget-bin/www_bget?hsa:23400 KEGG_Orthology KO:K13526 http://www.genome.jp/dbget-bin/www_bget?KO:K13526 MIM 606693 http://www.ncbi.nlm.nih.gov/omim/606693 MIM 610513 http://www.ncbi.nlm.nih.gov/omim/610513 MINT MINT-4781194 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-4781194 OMA PPLWEPQ http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=PPLWEPQ Orphanet 306674 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=306674 Orphanet 314632 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=314632 OrthoDB EOG091G01IL http://cegg.unige.ch/orthodb/results?searchtext=EOG091G01IL PROSITE PS00154 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00154 PSORT swissprot:AT132_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:AT132_HUMAN PSORT-B swissprot:AT132_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:AT132_HUMAN PSORT2 swissprot:AT132_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:AT132_HUMAN Pfam PF00122 http://pfam.xfam.org/family/PF00122 Pfam PF12409 http://pfam.xfam.org/family/PF12409 PharmGKB PA134897221 http://www.pharmgkb.org/do/serve?objId=PA134897221&objCls=Gene Phobius swissprot:AT132_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:AT132_HUMAN PhylomeDB Q9NQ11 http://phylomedb.org/?seqid=Q9NQ11 ProteinModelPortal Q9NQ11 http://www.proteinmodelportal.org/query/uniprot/Q9NQ11 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 16964263 http://www.ncbi.nlm.nih.gov/pubmed/16964263 PubMed 17485642 http://www.ncbi.nlm.nih.gov/pubmed/17485642 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 PubMed 18413573 http://www.ncbi.nlm.nih.gov/pubmed/18413573 PubMed 19015489 http://www.ncbi.nlm.nih.gov/pubmed/19015489 PubMed 19085912 http://www.ncbi.nlm.nih.gov/pubmed/19085912 PubMed 20683840 http://www.ncbi.nlm.nih.gov/pubmed/20683840 PubMed 20853184 http://www.ncbi.nlm.nih.gov/pubmed/20853184 PubMed 21542062 http://www.ncbi.nlm.nih.gov/pubmed/21542062 PubMed 22186024 http://www.ncbi.nlm.nih.gov/pubmed/22186024 PubMed 22388936 http://www.ncbi.nlm.nih.gov/pubmed/22388936 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 Reactome R-HSA-936837 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-936837 RefSeq NP_001135445 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001135445 RefSeq NP_001135446 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001135446 RefSeq NP_071372 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_071372 STRING 9606.ENSP00000327214 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000327214&targetmode=cogs SUPFAM SSF56784 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF56784 SUPFAM SSF81660 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81660 TCDB 3.A.3.10 http://www.tcdb.org/search/result.php?tc=3.A.3.10 TIGRFAMs TIGR01494 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01494 TIGRFAMs TIGR01657 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01657 UCSC uc001baa http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001baa&org=rat UniGene Hs.128866 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.128866 UniProtKB AT132_HUMAN http://www.uniprot.org/uniprot/AT132_HUMAN UniProtKB-AC Q9NQ11 http://www.uniprot.org/uniprot/Q9NQ11 charge swissprot:AT132_HUMAN http://rest.g-language.org/emboss/charge/swissprot:AT132_HUMAN eggNOG ENOG410XRCA http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XRCA eggNOG KOG0208 http://eggnogapi.embl.de/nog_data/html/tree/KOG0208 epestfind swissprot:AT132_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:AT132_HUMAN garnier swissprot:AT132_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:AT132_HUMAN helixturnhelix swissprot:AT132_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:AT132_HUMAN hmoment swissprot:AT132_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:AT132_HUMAN iep swissprot:AT132_HUMAN http://rest.g-language.org/emboss/iep/swissprot:AT132_HUMAN inforesidue swissprot:AT132_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:AT132_HUMAN neXtProt NX_Q9NQ11 http://www.nextprot.org/db/entry/NX_Q9NQ11 octanol swissprot:AT132_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:AT132_HUMAN pepcoil swissprot:AT132_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:AT132_HUMAN pepdigest swissprot:AT132_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:AT132_HUMAN pepinfo swissprot:AT132_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:AT132_HUMAN pepnet swissprot:AT132_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:AT132_HUMAN pepstats swissprot:AT132_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:AT132_HUMAN pepwheel swissprot:AT132_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:AT132_HUMAN pepwindow swissprot:AT132_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:AT132_HUMAN sigcleave swissprot:AT132_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:AT132_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S6A16_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9GZN6-1; Sequence=Displayed; Name=2; IsoId=Q9GZN6-2; Sequence=VSP_056317; Note=No experimental confirmation available.; # AltName S6A16_HUMAN Solute carrier family 6 member 16 # CCDS CCDS42590 -. [Q9GZN6-1] # Ensembl ENST00000335875 ENSP00000338627; ENSG00000063127. [Q9GZN6-1] # Ensembl ENST00000454748 ENSP00000404022; ENSG00000063127. [Q9GZN6-2] # ExpressionAtlas Q9GZN6 baseline and differential # GO_component GO:0005622 intracellular; NAS:UniProtKB. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_function GO:0005326 neurotransmitter transporter activity; NAS:UniProtKB. # GO_function GO:0015171 amino acid transmembrane transporter activity; IBA:GO_Central. # GO_function S6A16_HUMAN GO 0005328 neurotransmitter sodium symporter activity; IEA InterPro. # GO_process GO:0006836 neurotransmitter transport; NAS:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005622 intracellular # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # Genevisible Q9GZN6 HS # HGNC HGNC:13622 SLC6A16 # InterPro IPR000175 Na/ntran_symport # KEGG_Brite ko02001 Solute carrier family # KEGG_Brite ko04040 Ion channels # MIM 607972 gene # Organism S6A16_HUMAN Homo sapiens (Human) # PANTHER PTHR11616 PTHR11616; 2 # PRINTS PR00176 NANEUSMPORT # PROSITE PS00610 NA_NEUROTRAN_SYMP_1 # PROSITE PS00754 NA_NEUROTRAN_SYMP_2 # PROSITE PS50267 NA_NEUROTRAN_SYMP_3 # Pfam PF00209 SNF # Proteomes UP000005640 Chromosome 19 # RecName S6A16_HUMAN Orphan sodium- and chloride-dependent neurotransmitter transporter NTT5 # RefSeq NP_054756 NM_014037.2. [Q9GZN6-1] # RefSeq XP_005258877 XM_005258820.2. [Q9GZN6-1] # RefSeq XP_006723231 XM_006723168.3. [Q9GZN6-1] # SIMILARITY Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A16 subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION S6A16_HUMAN Membrane; Multi-pass membrane protein. # TCDB 2.A.22.6:the neurotransmitter sodium symporter (nss) family # TISSUE SPECIFICITY S6A16_HUMAN Highly expressed in peripheral tissues, particularly in testis, pancreas, and prostate. # UCSC uc002pmz human. [Q9GZN6-1] # eggNOG COG0733 LUCA # eggNOG KOG3659 Eukaryota BLAST swissprot:S6A16_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S6A16_HUMAN BioCyc ZFISH:ENSG00000063127-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000063127-MONOMER COXPRESdb 28968 http://coxpresdb.jp/data/gene/28968.shtml CleanEx HS_SLC6A16 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC6A16 DOI 10.1006/geno.2000.6387 http://dx.doi.org/10.1006/geno.2000.6387 DOI 10.1038/nature02399 http://dx.doi.org/10.1038/nature02399 DOI 10.1038/nature09639 http://dx.doi.org/10.1038/nature09639 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1101/gr.GR1547R http://dx.doi.org/10.1101/gr.GR1547R EMBL AC011450 http://www.ebi.ac.uk/ena/data/view/AC011450 EMBL AF151977 http://www.ebi.ac.uk/ena/data/view/AF151977 EMBL AF265578 http://www.ebi.ac.uk/ena/data/view/AF265578 EMBL AL136856 http://www.ebi.ac.uk/ena/data/view/AL136856 EMBL BC034948 http://www.ebi.ac.uk/ena/data/view/BC034948 Ensembl ENST00000335875 http://www.ensembl.org/id/ENST00000335875 Ensembl ENST00000454748 http://www.ensembl.org/id/ENST00000454748 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005622 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005622 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0005326 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005326 GO_function GO:0005328 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005328 GO_function GO:0015171 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015171 GO_process GO:0006836 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006836 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005622 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005622 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GeneCards SLC6A16 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC6A16 GeneID 28968 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=28968 GeneTree ENSGT00760000119044 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119044 HGNC HGNC:13622 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:13622 HOGENOM HOG000116406 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000116406&db=HOGENOM6 HOVERGEN HBG098140 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG098140&db=HOVERGEN InParanoid Q9GZN6 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9GZN6 InterPro IPR000175 http://www.ebi.ac.uk/interpro/entry/IPR000175 Jabion 28968 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=28968 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:28968 http://www.genome.jp/dbget-bin/www_bget?hsa:28968 KEGG_Orthology KO:K05048 http://www.genome.jp/dbget-bin/www_bget?KO:K05048 MIM 607972 http://www.ncbi.nlm.nih.gov/omim/607972 OMA FFTRPSG http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=FFTRPSG OrthoDB EOG091G05DI http://cegg.unige.ch/orthodb/results?searchtext=EOG091G05DI PANTHER PTHR11616 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11616 PRINTS PR00176 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00176 PROSITE PS00610 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00610 PROSITE PS00754 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00754 PROSITE PS50267 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50267 PSORT swissprot:S6A16_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S6A16_HUMAN PSORT-B swissprot:S6A16_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S6A16_HUMAN PSORT2 swissprot:S6A16_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S6A16_HUMAN Pfam PF00209 http://pfam.xfam.org/family/PF00209 PharmGKB PA37800 http://www.pharmgkb.org/do/serve?objId=PA37800&objCls=Gene Phobius swissprot:S6A16_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S6A16_HUMAN PhylomeDB Q9GZN6 http://phylomedb.org/?seqid=Q9GZN6 ProteinModelPortal Q9GZN6 http://www.proteinmodelportal.org/query/uniprot/Q9GZN6 PubMed 11112352 http://www.ncbi.nlm.nih.gov/pubmed/11112352 PubMed 11230166 http://www.ncbi.nlm.nih.gov/pubmed/11230166 PubMed 15057824 http://www.ncbi.nlm.nih.gov/pubmed/15057824 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 21248752 http://www.ncbi.nlm.nih.gov/pubmed/21248752 RefSeq NP_054756 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_054756 RefSeq XP_005258877 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005258877 RefSeq XP_006723231 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006723231 STRING 9606.ENSP00000338627 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000338627&targetmode=cogs TCDB 2.A.22.6 http://www.tcdb.org/search/result.php?tc=2.A.22.6 UCSC uc002pmz http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002pmz&org=rat UniGene Hs.130949 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.130949 UniProtKB S6A16_HUMAN http://www.uniprot.org/uniprot/S6A16_HUMAN UniProtKB-AC Q9GZN6 http://www.uniprot.org/uniprot/Q9GZN6 charge swissprot:S6A16_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S6A16_HUMAN eggNOG COG0733 http://eggnogapi.embl.de/nog_data/html/tree/COG0733 eggNOG KOG3659 http://eggnogapi.embl.de/nog_data/html/tree/KOG3659 epestfind swissprot:S6A16_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S6A16_HUMAN garnier swissprot:S6A16_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S6A16_HUMAN helixturnhelix swissprot:S6A16_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S6A16_HUMAN hmoment swissprot:S6A16_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S6A16_HUMAN iep swissprot:S6A16_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S6A16_HUMAN inforesidue swissprot:S6A16_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S6A16_HUMAN neXtProt NX_Q9GZN6 http://www.nextprot.org/db/entry/NX_Q9GZN6 octanol swissprot:S6A16_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S6A16_HUMAN pepcoil swissprot:S6A16_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S6A16_HUMAN pepdigest swissprot:S6A16_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S6A16_HUMAN pepinfo swissprot:S6A16_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S6A16_HUMAN pepnet swissprot:S6A16_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S6A16_HUMAN pepstats swissprot:S6A16_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S6A16_HUMAN pepwheel swissprot:S6A16_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S6A16_HUMAN pepwindow swissprot:S6A16_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S6A16_HUMAN sigcleave swissprot:S6A16_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S6A16_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS SO1B3_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NPD5-1; Sequence=Displayed; Name=2; IsoId=Q9NPD5-2; Sequence=VSP_056615, VSP_056616, VSP_056617; # AltName SO1B3_HUMAN Liver-specific organic anion transporter 2 # AltName SO1B3_HUMAN Organic anion transporter 8 # AltName SO1B3_HUMAN Organic anion-transporting polypeptide 8 # AltName SO1B3_HUMAN Solute carrier family 21 member 8 # CCDS CCDS8684 -. [Q9NPD5-1] # CDD cd06174 MFS # DISEASE SO1B3_HUMAN Hyperbilirubinemia, Rotor type (HBLRR) [MIM 237450] An autosomal recessive form of primary conjugated hyperbilirubinemia. Affected individuals develop mild jaundice not associated with hemolysis shortly after birth or in childhood. They have delayed plasma clearance of the unconjugated anionic dye bromsulphthalein and prominent urinary excretion of coproporphyrin I. Hepatic pigmentation is normal. {ECO 0000269|PubMed 22232210}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DrugBank DB00175 Pravastatin # DrugBank DB00177 Valsartan # DrugBank DB00275 Olmesartan # DrugBank DB00279 Liothyronine # DrugBank DB00286 Conjugated Estrogens # DrugBank DB00390 Digoxin # DrugBank DB00451 Levothyroxine # DrugBank DB00520 Caspofungin # DrugBank DB00563 Methotrexate # DrugBank DB00688 Mycophenolate mofetil # DrugBank DB00783 Estradiol # DrugBank DB00950 Fexofenadine # DrugBank DB01045 Rifampicin # DrugBank DB01076 Atorvastatin # DrugBank DB01092 Ouabain # DrugBank DB01095 Fluvastatin # DrugBank DB01098 Rosuvastatin # DrugBank DB01132 Pioglitazone # DrugBank DB01211 Clarithromycin # DrugBank DB01229 Paclitaxel # DrugBank DB01248 Docetaxel # DrugBank DB01583 Liotrix # DrugBank DB02659 Cholic Acid # DrugBank DB05239 Cobimetinib # DrugBank DB06176 Romidepsin # DrugBank DB06403 Ambrisentan # DrugBank DB06772 Cabazitaxel # DrugBank DB08860 Pitavastatin # DrugBank DB08862 Cholecystokinin # DrugBank DB08864 Rilpivirine # DrugBank DB08884 Gadoxetate # DrugBank DB08912 Dabrafenib # DrugBank DB09054 Idelalisib # DrugBank DB09102 Daclatasvir # DrugBank DB09292 Sacubitril # DrugBank DB11362 Selexipag # Ensembl ENST00000261196 ENSP00000261196; ENSG00000111700. [Q9NPD5-1] # Ensembl ENST00000381545 ENSP00000370956; ENSG00000111700. [Q9NPD5-1] # ExpressionAtlas Q9NPD5 baseline and differential # FUNCTION SO1B3_HUMAN Mediates the Na(+)-independent uptake of organic anions such as 17-beta-glucuronosyl estradiol, taurocholate, triiodothyronine (T3), leukotriene C4, dehydroepiandrosterone sulfate (DHEAS), methotrexate and sulfobromophthalein (BSP). Involved in the clearance of bile acids and organic anions from the liver. {ECO 0000269|PubMed 22232210}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0016323 basolateral plasma membrane; IEA:UniProtKB-SubCell. # GO_function GO:0008514 organic anion transmembrane transporter activity; TAS:ProtInc. # GO_function GO:0015125 bile acid transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015347 sodium-independent organic anion transmembrane transporter activity; IBA:GO_Central. # GO_process GO:0008206 bile acid metabolic process; IBA:GO_Central. # GO_process GO:0015711 organic anion transport; TAS:ProtInc. # GO_process GO:0015721 bile acid and bile salt transport; TAS:Reactome. # GO_process GO:0043252 sodium-independent organic anion transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006629 lipid metabolic process # GOslim_process GO:0006810 transport # GOslim_process GO:0044281 small molecule metabolic process # Genevisible Q9NPD5 HS # HGNC HGNC:10961 SLCO1B3 # InterPro IPR002350 Kazal_dom # InterPro IPR004156 OA_transporter # InterPro IPR020846 MFS_dom # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02001 Solute carrier family # KEGG_Pathway ko04976 Bile secretion # MIM 237450 phenotype # MIM 605495 gene # Organism SO1B3_HUMAN Homo sapiens (Human) # Orphanet 3111 Rotor syndrome # PANTHER PTHR11388 PTHR11388 # PROSITE PS50850 MFS # PROSITE PS51465 KAZAL_2 # PTM SO1B3_HUMAN N-glycosylated. {ECO 0000269|PubMed 10779507}. # Pfam PF03137 OATP # Pfam PF07648 Kazal_2 # Proteomes UP000005640 Chromosome 12 # Reactome R-HSA-159418 Recycling of bile acids and salts # Reactome R-HSA-879518 Transport of organic anions # RecName SO1B3_HUMAN Solute carrier organic anion transporter family member 1B3 # RefSeq NP_062818 NM_019844.3. [Q9NPD5-1] # SIMILARITY Belongs to the organo anion transporter (TC 2.A.60) family. {ECO 0000305}. # SIMILARITY Contains 1 Kazal-like domain. {ECO:0000255|PROSITE- ProRule PRU00798}. # SUBCELLULAR LOCATION SO1B3_HUMAN Basolateral cell membrane; Multi-pass membrane protein. # SUPFAM SSF103473 SSF103473; 5 # TCDB 2.A.60.1.12 the organo anion transporter (oat) family # TIGRFAMs TIGR00805 oat # TISSUE SPECIFICITY SO1B3_HUMAN Highly expressed in liver, in particular at the basolateral membrane of hepatocytes near the central vein. Not detected in other tissues. Highly expressed in some cancer cell lines derived from colon, pancreas, liver and gall bladder. # UCSC uc001rel human. [Q9NPD5-1] # eggNOG ENOG410XRSF LUCA # eggNOG KOG3626 Eukaryota BLAST swissprot:SO1B3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SO1B3_HUMAN BioCyc ZFISH:ENSG00000111700-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000111700-MONOMER COXPRESdb 28234 http://coxpresdb.jp/data/gene/28234.shtml CleanEx HS_SLCO1B3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLCO1B3 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1038/nature04569 http://dx.doi.org/10.1038/nature04569 DOI 10.1053/gast.2001.24804 http://dx.doi.org/10.1053/gast.2001.24804 DOI 10.1074/jbc.M001448200 http://dx.doi.org/10.1074/jbc.M001448200 DOI 10.1126/science.1133427 http://dx.doi.org/10.1126/science.1133427 DOI 10.1172/JCI59526 http://dx.doi.org/10.1172/JCI59526 DrugBank DB00175 http://www.drugbank.ca/drugs/DB00175 DrugBank DB00177 http://www.drugbank.ca/drugs/DB00177 DrugBank DB00275 http://www.drugbank.ca/drugs/DB00275 DrugBank DB00279 http://www.drugbank.ca/drugs/DB00279 DrugBank DB00286 http://www.drugbank.ca/drugs/DB00286 DrugBank DB00390 http://www.drugbank.ca/drugs/DB00390 DrugBank DB00451 http://www.drugbank.ca/drugs/DB00451 DrugBank DB00520 http://www.drugbank.ca/drugs/DB00520 DrugBank DB00563 http://www.drugbank.ca/drugs/DB00563 DrugBank DB00688 http://www.drugbank.ca/drugs/DB00688 DrugBank DB00783 http://www.drugbank.ca/drugs/DB00783 DrugBank DB00950 http://www.drugbank.ca/drugs/DB00950 DrugBank DB01045 http://www.drugbank.ca/drugs/DB01045 DrugBank DB01076 http://www.drugbank.ca/drugs/DB01076 DrugBank DB01092 http://www.drugbank.ca/drugs/DB01092 DrugBank DB01095 http://www.drugbank.ca/drugs/DB01095 DrugBank DB01098 http://www.drugbank.ca/drugs/DB01098 DrugBank DB01132 http://www.drugbank.ca/drugs/DB01132 DrugBank DB01211 http://www.drugbank.ca/drugs/DB01211 DrugBank DB01229 http://www.drugbank.ca/drugs/DB01229 DrugBank DB01248 http://www.drugbank.ca/drugs/DB01248 DrugBank DB01583 http://www.drugbank.ca/drugs/DB01583 DrugBank DB02659 http://www.drugbank.ca/drugs/DB02659 DrugBank DB05239 http://www.drugbank.ca/drugs/DB05239 DrugBank DB06176 http://www.drugbank.ca/drugs/DB06176 DrugBank DB06403 http://www.drugbank.ca/drugs/DB06403 DrugBank DB06772 http://www.drugbank.ca/drugs/DB06772 DrugBank DB08860 http://www.drugbank.ca/drugs/DB08860 DrugBank DB08862 http://www.drugbank.ca/drugs/DB08862 DrugBank DB08864 http://www.drugbank.ca/drugs/DB08864 DrugBank DB08884 http://www.drugbank.ca/drugs/DB08884 DrugBank DB08912 http://www.drugbank.ca/drugs/DB08912 DrugBank DB09054 http://www.drugbank.ca/drugs/DB09054 DrugBank DB09102 http://www.drugbank.ca/drugs/DB09102 DrugBank DB09292 http://www.drugbank.ca/drugs/DB09292 DrugBank DB11362 http://www.drugbank.ca/drugs/DB11362 EMBL AC011604 http://www.ebi.ac.uk/ena/data/view/AC011604 EMBL AC087309 http://www.ebi.ac.uk/ena/data/view/AC087309 EMBL AF187815 http://www.ebi.ac.uk/ena/data/view/AF187815 EMBL AJ251506 http://www.ebi.ac.uk/ena/data/view/AJ251506 EMBL AJ400763 http://www.ebi.ac.uk/ena/data/view/AJ400763 EMBL AJ400764 http://www.ebi.ac.uk/ena/data/view/AJ400764 EMBL AJ400765 http://www.ebi.ac.uk/ena/data/view/AJ400765 EMBL AJ400766 http://www.ebi.ac.uk/ena/data/view/AJ400766 EMBL AJ400767 http://www.ebi.ac.uk/ena/data/view/AJ400767 EMBL AJ400768 http://www.ebi.ac.uk/ena/data/view/AJ400768 EMBL AJ400769 http://www.ebi.ac.uk/ena/data/view/AJ400769 EMBL AJ400770 http://www.ebi.ac.uk/ena/data/view/AJ400770 EMBL AJ400771 http://www.ebi.ac.uk/ena/data/view/AJ400771 EMBL AJ400772 http://www.ebi.ac.uk/ena/data/view/AJ400772 EMBL AJ400773 http://www.ebi.ac.uk/ena/data/view/AJ400773 EMBL AJ400774 http://www.ebi.ac.uk/ena/data/view/AJ400774 EMBL AJ400775 http://www.ebi.ac.uk/ena/data/view/AJ400775 EMBL AJ400776 http://www.ebi.ac.uk/ena/data/view/AJ400776 EMBL AY257471 http://www.ebi.ac.uk/ena/data/view/AY257471 EMBL AY442326 http://www.ebi.ac.uk/ena/data/view/AY442326 Ensembl ENST00000261196 http://www.ensembl.org/id/ENST00000261196 Ensembl ENST00000381545 http://www.ensembl.org/id/ENST00000381545 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016323 GO_function GO:0008514 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008514 GO_function GO:0015125 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015125 GO_function GO:0015347 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015347 GO_process GO:0008206 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008206 GO_process GO:0015711 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015711 GO_process GO:0015721 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015721 GO_process GO:0043252 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043252 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006629 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006629 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GeneCards SLCO1B3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLCO1B3 GeneID 28234 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=28234 GeneTree ENSGT00760000119014 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119014 HGNC HGNC:10961 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10961 HOGENOM HOG000231269 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231269&db=HOGENOM6 HOVERGEN HBG063896 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG063896&db=HOVERGEN HPA HPA004943 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA004943 HPA HPA050892 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA050892 InParanoid Q9NPD5 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9NPD5 InterPro IPR002350 http://www.ebi.ac.uk/interpro/entry/IPR002350 InterPro IPR004156 http://www.ebi.ac.uk/interpro/entry/IPR004156 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 28234 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=28234 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:28234 http://www.genome.jp/dbget-bin/www_bget?hsa:28234 KEGG_Orthology KO:K05043 http://www.genome.jp/dbget-bin/www_bget?KO:K05043 KEGG_Pathway ko04976 http://www.genome.jp/kegg-bin/show_pathway?ko04976 MIM 237450 http://www.ncbi.nlm.nih.gov/omim/237450 MIM 605495 http://www.ncbi.nlm.nih.gov/omim/605495 OMA FLNNGEH http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=FLNNGEH Orphanet 3111 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=3111 OrthoDB EOG091G08QD http://cegg.unige.ch/orthodb/results?searchtext=EOG091G08QD PANTHER PTHR11388 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11388 PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PROSITE PS51465 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51465 PSORT swissprot:SO1B3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SO1B3_HUMAN PSORT-B swissprot:SO1B3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SO1B3_HUMAN PSORT2 swissprot:SO1B3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SO1B3_HUMAN Pfam PF03137 http://pfam.xfam.org/family/PF03137 Pfam PF07648 http://pfam.xfam.org/family/PF07648 PharmGKB PA35844 http://www.pharmgkb.org/do/serve?objId=PA35844&objCls=Gene Phobius swissprot:SO1B3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SO1B3_HUMAN PhylomeDB Q9NPD5 http://phylomedb.org/?seqid=Q9NPD5 ProteinModelPortal Q9NPD5 http://www.proteinmodelportal.org/query/uniprot/Q9NPD5 PubMed 10779507 http://www.ncbi.nlm.nih.gov/pubmed/10779507 PubMed 11375950 http://www.ncbi.nlm.nih.gov/pubmed/11375950 PubMed 16541075 http://www.ncbi.nlm.nih.gov/pubmed/16541075 PubMed 16959974 http://www.ncbi.nlm.nih.gov/pubmed/16959974 PubMed 22232210 http://www.ncbi.nlm.nih.gov/pubmed/22232210 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 Reactome R-HSA-159418 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-159418 Reactome R-HSA-879518 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-879518 RefSeq NP_062818 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_062818 STRING 9606.ENSP00000261196 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000261196&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.60.1.12 http://www.tcdb.org/search/result.php?tc=2.A.60.1.12 TIGRFAMs TIGR00805 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00805 UCSC uc001rel http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001rel&org=rat UniGene Hs.504966 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.504966 UniProtKB SO1B3_HUMAN http://www.uniprot.org/uniprot/SO1B3_HUMAN UniProtKB-AC Q9NPD5 http://www.uniprot.org/uniprot/Q9NPD5 charge swissprot:SO1B3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SO1B3_HUMAN eggNOG ENOG410XRSF http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XRSF eggNOG KOG3626 http://eggnogapi.embl.de/nog_data/html/tree/KOG3626 epestfind swissprot:SO1B3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SO1B3_HUMAN garnier swissprot:SO1B3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SO1B3_HUMAN helixturnhelix swissprot:SO1B3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SO1B3_HUMAN hmoment swissprot:SO1B3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SO1B3_HUMAN iep swissprot:SO1B3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SO1B3_HUMAN inforesidue swissprot:SO1B3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SO1B3_HUMAN neXtProt NX_Q9NPD5 http://www.nextprot.org/db/entry/NX_Q9NPD5 octanol swissprot:SO1B3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SO1B3_HUMAN pepcoil swissprot:SO1B3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SO1B3_HUMAN pepdigest swissprot:SO1B3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SO1B3_HUMAN pepinfo swissprot:SO1B3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SO1B3_HUMAN pepnet swissprot:SO1B3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SO1B3_HUMAN pepstats swissprot:SO1B3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SO1B3_HUMAN pepwheel swissprot:SO1B3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SO1B3_HUMAN pepwindow swissprot:SO1B3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SO1B3_HUMAN sigcleave swissprot:SO1B3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SO1B3_HUMAN ## Database ID URL or Descriptions # BioGrid 120701 2 # CDD cd06174 MFS # ChiTaRS SVOP human # Ensembl ENST00000610966 ENSP00000479104; ENSG00000166111 # ExpressionAtlas Q8N4V2 baseline and differential # GO_component GO:0008021 synaptic vesicle; ISS:HGNC. # GO_component GO:0016021 integral component of membrane; IBA:GO_Central. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0030672 synaptic vesicle membrane; IEA:UniProtKB-SubCell. # GO_function GO:0022891 substrate-specific transmembrane transporter activity; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0031410 cytoplasmic vesicle # GOslim_function GO:0022857 transmembrane transporter activity # Genevisible Q8N4V2 HS # HGNC HGNC:25417 SVOP # InterPro IPR004749 Orgcat_transp/SVOP # InterPro IPR005828 MFS_sugar_transport-like # InterPro IPR011701 MFS # InterPro IPR020846 MFS_dom # MIM 611699 gene # Organism SVOP_HUMAN Homo sapiens (Human) # PIR T50622 T50622 # PROSITE PS50850 MFS # Pfam PF00083 Sugar_tr # Pfam PF07690 MFS_1 # Proteomes UP000005640 Chromosome 12 # RecName SVOP_HUMAN Synaptic vesicle 2-related protein # RefSeq NP_061181 NM_018711.4 # SIMILARITY Belongs to the major facilitator superfamily. {ECO 0000305}. # SUBCELLULAR LOCATION SVOP_HUMAN Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. # SUPFAM SSF103473 SSF103473 # TIGRFAMs TIGR00898 2A0119 # UCSC uc031zmo human # eggNOG ENOG410ZVDQ LUCA # eggNOG KOG0253 Eukaryota # eggNOG KOG0255 Eukaryota BLAST swissprot:SVOP_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SVOP_HUMAN COXPRESdb 55530 http://coxpresdb.jp/data/gene/55530.shtml CleanEx HS_SVOP http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SVOP DOI 10.1016/j.ygeno.2007.03.017 http://dx.doi.org/10.1016/j.ygeno.2007.03.017 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 EMBL AL359592 http://www.ebi.ac.uk/ena/data/view/AL359592 EMBL BC033587 http://www.ebi.ac.uk/ena/data/view/BC033587 EMBL BC094722 http://www.ebi.ac.uk/ena/data/view/BC094722 Ensembl ENST00000610966 http://www.ensembl.org/id/ENST00000610966 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0008021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008021 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0030672 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030672 GO_function GO:0022891 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022891 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0031410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GeneCards SVOP http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SVOP GeneID 55530 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=55530 GeneTree ENSGT00550000074384 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074384 H-InvDB HIX0021720 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0021720 HGNC HGNC:25417 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:25417 HOGENOM HOG000114543 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000114543&db=HOGENOM6 HOVERGEN HBG057057 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG057057&db=HOVERGEN HPA HPA016573 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA016573 InParanoid Q8N4V2 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8N4V2 InterPro IPR004749 http://www.ebi.ac.uk/interpro/entry/IPR004749 InterPro IPR005828 http://www.ebi.ac.uk/interpro/entry/IPR005828 InterPro IPR011701 http://www.ebi.ac.uk/interpro/entry/IPR011701 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 55530 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=55530 KEGG_Gene hsa:55530 http://www.genome.jp/dbget-bin/www_bget?hsa:55530 MIM 611699 http://www.ncbi.nlm.nih.gov/omim/611699 OMA KEDYMDL http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=KEDYMDL OrthoDB EOG091G04VD http://cegg.unige.ch/orthodb/results?searchtext=EOG091G04VD PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PSORT swissprot:SVOP_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SVOP_HUMAN PSORT-B swissprot:SVOP_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SVOP_HUMAN PSORT2 swissprot:SVOP_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SVOP_HUMAN Pfam PF00083 http://pfam.xfam.org/family/PF00083 Pfam PF07690 http://pfam.xfam.org/family/PF07690 PharmGKB PA142670848 http://www.pharmgkb.org/do/serve?objId=PA142670848&objCls=Gene Phobius swissprot:SVOP_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SVOP_HUMAN PhylomeDB Q8N4V2 http://phylomedb.org/?seqid=Q8N4V2 ProteinModelPortal Q8N4V2 http://www.proteinmodelportal.org/query/uniprot/Q8N4V2 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 17714910 http://www.ncbi.nlm.nih.gov/pubmed/17714910 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 RefSeq NP_061181 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_061181 STRING 9606.ENSP00000299134 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000299134&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TIGRFAMs TIGR00898 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00898 UCSC uc031zmo http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc031zmo&org=rat UniGene Hs.27226 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.27226 UniGene Hs.4221 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.4221 UniGene Hs.595078 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.595078 UniProtKB SVOP_HUMAN http://www.uniprot.org/uniprot/SVOP_HUMAN UniProtKB-AC Q8N4V2 http://www.uniprot.org/uniprot/Q8N4V2 charge swissprot:SVOP_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SVOP_HUMAN eggNOG ENOG410ZVDQ http://eggnogapi.embl.de/nog_data/html/tree/ENOG410ZVDQ eggNOG KOG0253 http://eggnogapi.embl.de/nog_data/html/tree/KOG0253 eggNOG KOG0255 http://eggnogapi.embl.de/nog_data/html/tree/KOG0255 epestfind swissprot:SVOP_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SVOP_HUMAN garnier swissprot:SVOP_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SVOP_HUMAN helixturnhelix swissprot:SVOP_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SVOP_HUMAN hmoment swissprot:SVOP_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SVOP_HUMAN iep swissprot:SVOP_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SVOP_HUMAN inforesidue swissprot:SVOP_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SVOP_HUMAN neXtProt NX_Q8N4V2 http://www.nextprot.org/db/entry/NX_Q8N4V2 octanol swissprot:SVOP_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SVOP_HUMAN pepcoil swissprot:SVOP_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SVOP_HUMAN pepdigest swissprot:SVOP_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SVOP_HUMAN pepinfo swissprot:SVOP_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SVOP_HUMAN pepnet swissprot:SVOP_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SVOP_HUMAN pepstats swissprot:SVOP_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SVOP_HUMAN pepwheel swissprot:SVOP_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SVOP_HUMAN pepwindow swissprot:SVOP_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SVOP_HUMAN sigcleave swissprot:SVOP_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SVOP_HUMAN ## Database ID URL or Descriptions # AltName PEX3_HUMAN Peroxin-3 # AltName PEX3_HUMAN Peroxisomal assembly protein PEX3 # BioGrid 114076 8 # DISEASE PEX3_HUMAN Peroxisome biogenesis disorder 10A (PBD10A) [MIM 614882] A fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum and clinically characterized by severe neurologic dysfunction with profound psychomotor retardation, severe hypotonia and neonatal seizures, craniofacial abnormalities, liver dysfunction, and biochemically by the absence of peroxisomes. Additional features include cardiovascular and skeletal defects, renal cysts, ocular abnormalities, and hearing impairment. Most severely affected individuals with the classic form of the disease (classic Zellweger syndrome) die within the first year of life. {ECO 0000269|PubMed 10848631, ECO 0000269|PubMed 10958759}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE PEX3_HUMAN Peroxisome biogenesis disorder complementation group 12 (PBD-CG12) [MIM 614882] A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS). {ECO 0000269|PubMed 10958759}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000367591 ENSP00000356563; ENSG00000034693 # ExpressionAtlas P56589 baseline and differential # FUNCTION PEX3_HUMAN Involved in peroxisome biosynthesis and integrity. Assembles membrane vesicles before the matrix proteins are translocated. As a docking factor for PEX19, is necessary for the import of peroxisomal membrane proteins in the peroxisomes. {ECO 0000269|PubMed 10848631, ECO 0000269|PubMed 15007061}. # GO_component GO:0005654 nucleoplasm; IDA:HPA. # GO_component GO:0005777 peroxisome; IMP:UniProtKB. # GO_component GO:0005778 peroxisomal membrane; IDA:UniProtKB. # GO_component GO:0005779 integral component of peroxisomal membrane; IDA:UniProtKB. # GO_component GO:0005783 endoplasmic reticulum; IDA:UniProtKB. # GO_component GO:0005829 cytosol; IEA:Ensembl. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0032994 protein-lipid complex; IDA:UniProtKB. # GO_component GO:0043231 intracellular membrane-bounded organelle; IDA:HPA. # GO_component GO:0043234 protein complex; IDA:UniProtKB. # GO_function GO:0008289 lipid binding; IDA:UniProtKB. # GO_function GO:0015171 amino acid transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0046983 protein dimerization activity; IDA:UniProtKB. # GO_process GO:0003333 amino acid transmembrane transport; IBA:GO_Central. # GO_process GO:0007031 peroxisome organization; IMP:UniProtKB. # GO_process GO:0016557 peroxisome membrane biogenesis; IEA:Ensembl. # GO_process GO:0045046 protein import into peroxisome membrane; IMP:UniProtKB. # GO_process GO:0055085 transmembrane transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005654 nucleoplasm # GOslim_component GO:0005777 peroxisome # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_component GO:0005829 cytosol # GOslim_component GO:0043226 organelle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0008289 lipid binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006605 protein targeting # GOslim_process GO:0008150 biological_process # GOslim_process GO:0055085 transmembrane transport # GOslim_process GO:0061024 membrane organization # Genevisible P56589 HS # HGNC HGNC:8858 PEX3 # INTERACTION PEX3_HUMAN P40855 PEX19; NbExp=27; IntAct=EBI-594885, EBI-594747; # IntAct P56589 4 # InterPro IPR006966 Peroxin-3 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Disease H00205:[Inherited metabolic disease; Nervous system disease; Liver disease; Peroxisomal disease] Rhizomelic chondrodysplasia punctata (RCDP1) [DS H00207] # KEGG_Disease H01342 [Inherited metabolic disease; Nervous system disease; Liver disease; Peroxisomal disease] Zellweger syndrome (ZS) # KEGG_Pathway ko04146 Peroxisome # MIM 603164 gene # MIM 614882 phenotype # Organism PEX3_HUMAN Homo sapiens (Human) # Orphanet 44 Neonatal adrenoleukodystrophy # Orphanet 772 Infantile Refsum disease # Orphanet 912 Zellweger syndrome # PDB 3AJB X-ray; 2.50 A; A=49-373 # PDB 3MK4 X-ray; 2.42 A; A=41-373 # Pfam PF04882 Peroxin-3; 2 # Proteomes UP000005640 Chromosome 6 # Reactome R-HSA-1369062 ABC transporters in lipid homeostasis # RecName PEX3_HUMAN Peroxisomal biogenesis factor 3 # RefSeq NP_003621 NM_003630.2 # SIMILARITY Belongs to the peroxin-3 family. {ECO 0000305}. # SUBCELLULAR LOCATION PEX3_HUMAN Peroxisome membrane {ECO 0000269|PubMed 11390669}; Multi-pass membrane protein {ECO 0000269|PubMed 11390669}. # SUBUNIT PEX3_HUMAN Interacts with PEX19. {ECO 0000269|PubMed 10704444, ECO 0000269|PubMed 11390669, ECO 0000269|PubMed 20554521, ECO 0000269|PubMed 21102411}. # TCDB 9.A.17.1 the integral membrane peroxisomal protein importer-2 (ppi2) family # TISSUE SPECIFICITY PEX3_HUMAN Found in all examined tissues. # UCSC uc003qjl human # eggNOG ENOG41101IY LUCA # eggNOG KOG4444 Eukaryota BLAST swissprot:PEX3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:PEX3_HUMAN BioCyc ZFISH:ENSG00000034693-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000034693-MONOMER COXPRESdb 8504 http://coxpresdb.jp/data/gene/8504.shtml CleanEx HS_PEX3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_PEX3 DOI 10.1006/bbrc.2000.2193 http://dx.doi.org/10.1006/bbrc.2000.2193 DOI 10.1016/S0014-5793(98)00557-2 http://dx.doi.org/10.1016/S0014-5793(98)00557-2 DOI 10.1038/emboj.2010.293 http://dx.doi.org/10.1038/emboj.2010.293 DOI 10.1038/nature02055 http://dx.doi.org/10.1038/nature02055 DOI 10.1074/jbc.M110.138503 http://dx.doi.org/10.1074/jbc.M110.138503 DOI 10.1083/jcb.148.5.931 http://dx.doi.org/10.1083/jcb.148.5.931 DOI 10.1083/jcb.200311131 http://dx.doi.org/10.1083/jcb.200311131 DOI 10.1086/303071 http://dx.doi.org/10.1086/303071 DOI 10.1091/mbc.11.6.2085 http://dx.doi.org/10.1091/mbc.11.6.2085 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1128/MCB.21.13.4413-4424.2001 http://dx.doi.org/10.1128/MCB.21.13.4413-4424.2001 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AB035307 http://www.ebi.ac.uk/ena/data/view/AB035307 EMBL AJ001625 http://www.ebi.ac.uk/ena/data/view/AJ001625 EMBL AJ009866 http://www.ebi.ac.uk/ena/data/view/AJ009866 EMBL AJ009867 http://www.ebi.ac.uk/ena/data/view/AJ009867 EMBL AJ009868 http://www.ebi.ac.uk/ena/data/view/AJ009868 EMBL AJ009869 http://www.ebi.ac.uk/ena/data/view/AJ009869 EMBL AJ009870 http://www.ebi.ac.uk/ena/data/view/AJ009870 EMBL AJ009871 http://www.ebi.ac.uk/ena/data/view/AJ009871 EMBL AJ009872 http://www.ebi.ac.uk/ena/data/view/AJ009872 EMBL AJ009873 http://www.ebi.ac.uk/ena/data/view/AJ009873 EMBL AJ009874 http://www.ebi.ac.uk/ena/data/view/AJ009874 EMBL AJ131389 http://www.ebi.ac.uk/ena/data/view/AJ131389 EMBL AL031320 http://www.ebi.ac.uk/ena/data/view/AL031320 EMBL AY277600 http://www.ebi.ac.uk/ena/data/view/AY277600 EMBL BC014551 http://www.ebi.ac.uk/ena/data/view/BC014551 EMBL BC015506 http://www.ebi.ac.uk/ena/data/view/BC015506 EMBL CH471051 http://www.ebi.ac.uk/ena/data/view/CH471051 EMBL CR542062 http://www.ebi.ac.uk/ena/data/view/CR542062 Ensembl ENST00000367591 http://www.ensembl.org/id/ENST00000367591 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GO_component GO:0005777 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005777 GO_component GO:0005778 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005778 GO_component GO:0005779 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005779 GO_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0032994 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032994 GO_component GO:0043231 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043231 GO_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GO_function GO:0008289 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008289 GO_function GO:0015171 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015171 GO_function GO:0046983 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046983 GO_process GO:0003333 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003333 GO_process GO:0007031 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007031 GO_process GO:0016557 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016557 GO_process GO:0045046 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045046 GO_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GOslim_component GO:0005777 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005777 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0008289 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008289 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006605 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006605 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GOslim_process GO:0061024 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061024 GeneCards PEX3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=PEX3 GeneID 8504 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=8504 GeneTree ENSGT00390000008481 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000008481 HGNC HGNC:8858 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:8858 HOGENOM HOG000007212 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000007212&db=HOGENOM6 HOVERGEN HBG000467 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG000467&db=HOVERGEN HPA HPA042830 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA042830 HPA HPA058006 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA058006 InParanoid P56589 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P56589 IntAct P56589 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P56589* InterPro IPR006966 http://www.ebi.ac.uk/interpro/entry/IPR006966 Jabion 8504 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=8504 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Disease H00205 http://www.genome.jp/dbget-bin/www_bget?H00205 KEGG_Disease H01342 http://www.genome.jp/dbget-bin/www_bget?H01342 KEGG_Gene hsa:8504 http://www.genome.jp/dbget-bin/www_bget?hsa:8504 KEGG_Orthology KO:K13336 http://www.genome.jp/dbget-bin/www_bget?KO:K13336 KEGG_Pathway ko04146 http://www.genome.jp/kegg-bin/show_pathway?ko04146 MIM 603164 http://www.ncbi.nlm.nih.gov/omim/603164 MIM 614882 http://www.ncbi.nlm.nih.gov/omim/614882 MINT MINT-241504 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-241504 OMA ARRQFHF http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=ARRQFHF Orphanet 44 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=44 Orphanet 772 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=772 Orphanet 912 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=912 OrthoDB EOG091G1027 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G1027 PDB 3AJB http://www.ebi.ac.uk/pdbe-srv/view/entry/3AJB PDB 3MK4 http://www.ebi.ac.uk/pdbe-srv/view/entry/3MK4 PDBsum 3AJB http://www.ebi.ac.uk/pdbsum/3AJB PDBsum 3MK4 http://www.ebi.ac.uk/pdbsum/3MK4 PSORT swissprot:PEX3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:PEX3_HUMAN PSORT-B swissprot:PEX3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:PEX3_HUMAN PSORT2 swissprot:PEX3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:PEX3_HUMAN Pfam PF04882 http://pfam.xfam.org/family/PF04882 PharmGKB PA33200 http://www.pharmgkb.org/do/serve?objId=PA33200&objCls=Gene Phobius swissprot:PEX3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:PEX3_HUMAN PhylomeDB P56589 http://phylomedb.org/?seqid=P56589 ProteinModelPortal P56589 http://www.proteinmodelportal.org/query/uniprot/P56589 PubMed 10430017 http://www.ncbi.nlm.nih.gov/pubmed/10430017 PubMed 10679269 http://www.ncbi.nlm.nih.gov/pubmed/10679269 PubMed 10704444 http://www.ncbi.nlm.nih.gov/pubmed/10704444 PubMed 10848631 http://www.ncbi.nlm.nih.gov/pubmed/10848631 PubMed 10958759 http://www.ncbi.nlm.nih.gov/pubmed/10958759 PubMed 11390669 http://www.ncbi.nlm.nih.gov/pubmed/11390669 PubMed 14574404 http://www.ncbi.nlm.nih.gov/pubmed/14574404 PubMed 15007061 http://www.ncbi.nlm.nih.gov/pubmed/15007061 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 20554521 http://www.ncbi.nlm.nih.gov/pubmed/20554521 PubMed 21102411 http://www.ncbi.nlm.nih.gov/pubmed/21102411 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 9657383 http://www.ncbi.nlm.nih.gov/pubmed/9657383 Reactome R-HSA-1369062 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1369062 RefSeq NP_003621 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_003621 SMR P56589 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P56589 STRING 9606.ENSP00000356563 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000356563&targetmode=cogs TCDB 9.A.17.1 http://www.tcdb.org/search/result.php?tc=9.A.17.1 UCSC uc003qjl http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003qjl&org=rat UniGene Hs.592832 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.592832 UniGene Hs.7277 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.7277 UniProtKB PEX3_HUMAN http://www.uniprot.org/uniprot/PEX3_HUMAN UniProtKB-AC P56589 http://www.uniprot.org/uniprot/P56589 charge swissprot:PEX3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:PEX3_HUMAN eggNOG ENOG41101IY http://eggnogapi.embl.de/nog_data/html/tree/ENOG41101IY eggNOG KOG4444 http://eggnogapi.embl.de/nog_data/html/tree/KOG4444 epestfind swissprot:PEX3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:PEX3_HUMAN garnier swissprot:PEX3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:PEX3_HUMAN helixturnhelix swissprot:PEX3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:PEX3_HUMAN hmoment swissprot:PEX3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:PEX3_HUMAN iep swissprot:PEX3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:PEX3_HUMAN inforesidue swissprot:PEX3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:PEX3_HUMAN neXtProt NX_P56589 http://www.nextprot.org/db/entry/NX_P56589 octanol swissprot:PEX3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:PEX3_HUMAN pepcoil swissprot:PEX3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:PEX3_HUMAN pepdigest swissprot:PEX3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:PEX3_HUMAN pepinfo swissprot:PEX3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:PEX3_HUMAN pepnet swissprot:PEX3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:PEX3_HUMAN pepstats swissprot:PEX3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:PEX3_HUMAN pepwheel swissprot:PEX3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:PEX3_HUMAN pepwindow swissprot:PEX3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:PEX3_HUMAN sigcleave swissprot:PEX3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:PEX3_HUMAN ## Database ID URL or Descriptions # AltName CLCA1_HUMAN Calcium-activated chloride channel family member 1 # AltName CLCA1_HUMAN Calcium-activated chloride channel protein 1 # BioGrid 107593 2 # DOMAIN CLCA1_HUMAN The metalloprotease region is responsible for autoproteolytic processing. It can also cross-cleave other CLCA Substrates. {ECO 0000269|PubMed 23112050}. # Ensembl ENST00000234701 ENSP00000234701; ENSG00000016490 # Ensembl ENST00000394711 ENSP00000378200; ENSG00000016490 # FUNCTION CLCA1_HUMAN May be involved in mediating calcium-activated chloride conductance. May play critical roles in goblet cell metaplasia, mucus hypersecretion, cystic fibrosis and AHR. May be involved in the regulation of mucus production and/or secretion by goblet cells. Involved in the regulation of tissue inflammation in the innate immune response. May play a role as a tumor suppressor. Induces MUC5AC. {ECO 0000269|PubMed 11445004, ECO 0000269|PubMed 11842292, ECO 0000269|PubMed 11956057, ECO 0000269|PubMed 23112050, ECO 0000269|PubMed 9828122}. # GO_component GO:0005615 extracellular space; IEA:UniProtKB-SubCell. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0005902 microvillus; IEA:Ensembl. # GO_component GO:0042589 zymogen granule membrane; IEA:Ensembl. # GO_function GO:0004222 metalloendopeptidase activity; TAS:Reactome. # GO_function GO:0005229 intracellular calcium activated chloride channel activity; IEA:InterPro. # GO_function GO:0005254 chloride channel activity; TAS:ProtInc. # GO_function GO:0046872 metal ion binding; IEA:UniProtKB-KW. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0006816 calcium ion transport; IEA:UniProtKB-KW. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0071456 cellular response to hypoxia; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005615 extracellular space # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0008233 peptidase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0055085 transmembrane transport # Gene3D 3.40.50.410 -; 1. # Genevisible A8K7I4 HS # HGNC HGNC:2015 CLCA1 # INDUCTION CLCA1_HUMAN By IL13/interleukin-13 in tracheobronchial epithelial cells. Up-regulated by histamine in a dose-dependent manner. Significantly down-regulated in colorectal cancer. Significantly up-regulated in the IL9-responsive mucus-producing epithelium of asthmatic patients. Significantly decreased in nasal polyp. Significantly increased by TNF in upper airway mucosa. {ECO 0000269|PubMed 11445004, ECO 0000269|PubMed 11842292, ECO 0000269|PubMed 11956057, ECO 0000269|PubMed 15696080, ECO 0000269|PubMed 16012037, ECO 0000269|PubMed 16151054, ECO 0000269|PubMed 17622767}. # InterPro IPR002035 VWF_A # InterPro IPR004727 CLCA_chordata # InterPro IPR013642 CLCA # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04740 Olfactory transduction # KEGG_Pathway ko04972 Pancreatic secretion # MIM 603906 gene # Organism CLCA1_HUMAN Homo sapiens (Human) # PROSITE PS50234 VWFA # PTM CLCA1_HUMAN Glycosylated. {ECO 0000269|PubMed 9828122}. # PTM CLCA1_HUMAN The 125-kDa product is autoproteolytically processed by the metalloprotease domain and yields to two cell-surface-associated subunits, a 90-kDa protein and a group of 37-to 41-kDa proteins. The cleavage is necessary for calcium-activated chloride channel (CaCC) activation activity. {ECO 0000269|PubMed 23112050, ECO 0000269|PubMed 9828122}. # Pfam PF08434 CLCA # Pfam PF13519 VWA_2 # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-2672351 Stimuli-sensing channels # RecName CLCA1_HUMAN Calcium-activated chloride channel regulator 1 # RefSeq NP_001276 NM_001285.3 # SIMILARITY Belongs to the CLCR family. {ECO 0000305}. # SIMILARITY Contains 1 VWFA domain. {ECO:0000255|PROSITE- ProRule PRU00219}. # SMART SM00327 VWA # SUBCELLULAR LOCATION CLCA1_HUMAN Secreted, extracellular space {ECO 0000269|PubMed 15919655}. Cell membrane {ECO 0000269|PubMed 15919655}; Peripheral membrane protein {ECO 0000269|PubMed 15919655}; Extracellular side {ECO 0000269|PubMed 15919655}. Note=Protein that remains attached to the plasma membrane appeared to be predominantly localized to microvilli. # SUPFAM SSF53300 SSF53300 # TCDB 1.A.13.1 the epithelial chloride channel (e-clc) family # TIGRFAMs TIGR00868 hCaCC # TISSUE SPECIFICITY CLCA1_HUMAN Highly expressed in small intestine and colon namely in intestinal basal crypt epithelia and goblet cells, and appendix. Weakly expressed in uterus, testis and kidney. Expressed in the airways epithelium of both asthmatic and healthy patients. Expressed in the bronchial epithelium, especially in mucus- producing goblet cells. Expressed in normal turbinate mucosa and nasal polyp. Expressed in. {ECO 0000269|PubMed 10437792, ECO 0000269|PubMed 11842292, ECO 0000269|PubMed 11956057, ECO 0000269|PubMed 16012037, ECO 0000269|PubMed 9828122}. # UCSC uc001dlt human # eggNOG ENOG410IEPS Eukaryota # eggNOG ENOG410XPSZ LUCA BLAST swissprot:CLCA1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CLCA1_HUMAN COXPRESdb 1179 http://coxpresdb.jp/data/gene/1179.shtml CleanEx HS_CLCA1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CLCA1 DOI 10.1006/geno.1998.5562 http://dx.doi.org/10.1006/geno.1998.5562 DOI 10.1016/S0014-5793(99)00891-1 http://dx.doi.org/10.1016/S0014-5793(99)00891-1 DOI 10.1016/j.jaci.2004.09.039 http://dx.doi.org/10.1016/j.jaci.2004.09.039 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1067/mai.2002.121555 http://dx.doi.org/10.1067/mai.2002.121555 DOI 10.1074/jbc.M112.410282 http://dx.doi.org/10.1074/jbc.M112.410282 DOI 10.1074/jbc.M504654200 http://dx.doi.org/10.1074/jbc.M504654200 DOI 10.1080/00016480510028519 http://dx.doi.org/10.1080/00016480510028519 DOI 10.1089/10445490152122442 http://dx.doi.org/10.1089/10445490152122442 DOI 10.1159/000104419 http://dx.doi.org/10.1159/000104419 DOI 10.1164/ajrccm.165.8.2107068 http://dx.doi.org/10.1164/ajrccm.165.8.2107068 DOI 10.1165/rcmb.2004-0220RC http://dx.doi.org/10.1165/rcmb.2004-0220RC EC_number EC:3.4.-.- {ECO:0000269|PubMed:23112050} http://www.genome.jp/dbget-bin/www_bget?EC:3.4.-.- {ECO:0000269|PubMed:23112050} EMBL AF039400 http://www.ebi.ac.uk/ena/data/view/AF039400 EMBL AF039401 http://www.ebi.ac.uk/ena/data/view/AF039401 EMBL AF127036 http://www.ebi.ac.uk/ena/data/view/AF127036 EMBL AK291999 http://www.ebi.ac.uk/ena/data/view/AK291999 EMBL AK314375 http://www.ebi.ac.uk/ena/data/view/AK314375 EMBL AL122002 http://www.ebi.ac.uk/ena/data/view/AL122002 EMBL CH471097 http://www.ebi.ac.uk/ena/data/view/CH471097 ENZYME 3.4.-.- {ECO:0000269|PubMed:23112050} http://enzyme.expasy.org/EC/3.4.-.- {ECO:0000269|PubMed:23112050} Ensembl ENST00000234701 http://www.ensembl.org/id/ENST00000234701 Ensembl ENST00000394711 http://www.ensembl.org/id/ENST00000394711 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005615 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005615 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0005902 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005902 GO_component GO:0042589 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042589 GO_function GO:0004222 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004222 GO_function GO:0005229 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005229 GO_function GO:0005254 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005254 GO_function GO:0046872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046872 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0006816 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006816 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0071456 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071456 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005615 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005615 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0008233 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008233 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 3.40.50.410 http://www.cathdb.info/version/latest/superfamily/3.40.50.410 GeneCards CLCA1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CLCA1 GeneID 1179 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=1179 GeneTree ENSGT00390000004810 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000004810 HGNC HGNC:2015 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:2015 HOGENOM HOG000015107 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000015107&db=HOGENOM6 HOVERGEN HBG005560 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG005560&db=HOVERGEN HPA HPA052787 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA052787 HPA HPA059301 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA059301 InParanoid A8K7I4 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=A8K7I4 IntAct A8K7I4 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=A8K7I4* IntEnz 3.4.-.- {ECO:0000269|PubMed:23112050} http://www.ebi.ac.uk/intenz/query?cmd=Search&q=3.4.-.- {ECO:0000269|PubMed:23112050} InterPro IPR002035 http://www.ebi.ac.uk/interpro/entry/IPR002035 InterPro IPR004727 http://www.ebi.ac.uk/interpro/entry/IPR004727 InterPro IPR013642 http://www.ebi.ac.uk/interpro/entry/IPR013642 Jabion 1179 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=1179 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:1179 http://www.genome.jp/dbget-bin/www_bget?hsa:1179 KEGG_Orthology KO:K05027 http://www.genome.jp/dbget-bin/www_bget?KO:K05027 KEGG_Pathway ko04740 http://www.genome.jp/kegg-bin/show_pathway?ko04740 KEGG_Pathway ko04972 http://www.genome.jp/kegg-bin/show_pathway?ko04972 MIM 603906 http://www.ncbi.nlm.nih.gov/omim/603906 OMA KNTKMAY http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=KNTKMAY OrthoDB EOG091G09E6 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G09E6 PROSITE PS50234 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50234 PSORT swissprot:CLCA1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CLCA1_HUMAN PSORT-B swissprot:CLCA1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CLCA1_HUMAN PSORT2 swissprot:CLCA1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CLCA1_HUMAN Pfam PF08434 http://pfam.xfam.org/family/PF08434 Pfam PF13519 http://pfam.xfam.org/family/PF13519 PharmGKB PA26542 http://www.pharmgkb.org/do/serve?objId=PA26542&objCls=Gene Phobius swissprot:CLCA1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CLCA1_HUMAN PhylomeDB A8K7I4 http://phylomedb.org/?seqid=A8K7I4 ProteinModelPortal A8K7I4 http://www.proteinmodelportal.org/query/uniprot/A8K7I4 PubMed 10437792 http://www.ncbi.nlm.nih.gov/pubmed/10437792 PubMed 11445004 http://www.ncbi.nlm.nih.gov/pubmed/11445004 PubMed 11842292 http://www.ncbi.nlm.nih.gov/pubmed/11842292 PubMed 11956057 http://www.ncbi.nlm.nih.gov/pubmed/11956057 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15696080 http://www.ncbi.nlm.nih.gov/pubmed/15696080 PubMed 15919655 http://www.ncbi.nlm.nih.gov/pubmed/15919655 PubMed 16012037 http://www.ncbi.nlm.nih.gov/pubmed/16012037 PubMed 16151054 http://www.ncbi.nlm.nih.gov/pubmed/16151054 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 17622767 http://www.ncbi.nlm.nih.gov/pubmed/17622767 PubMed 23112050 http://www.ncbi.nlm.nih.gov/pubmed/23112050 PubMed 9828122 http://www.ncbi.nlm.nih.gov/pubmed/9828122 Reactome R-HSA-2672351 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2672351 RefSeq NP_001276 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001276 SMART SM00327 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00327 SMR A8K7I4 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=A8K7I4 STRING 9606.ENSP00000234701 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000234701&targetmode=cogs SUPFAM SSF53300 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF53300 TCDB 1.A.13.1 http://www.tcdb.org/search/result.php?tc=1.A.13.1 TIGRFAMs TIGR00868 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00868 UCSC uc001dlt http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001dlt&org=rat UniGene Hs.194659 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.194659 UniProtKB CLCA1_HUMAN http://www.uniprot.org/uniprot/CLCA1_HUMAN UniProtKB-AC A8K7I4 http://www.uniprot.org/uniprot/A8K7I4 charge swissprot:CLCA1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CLCA1_HUMAN eggNOG ENOG410IEPS http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IEPS eggNOG ENOG410XPSZ http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XPSZ epestfind swissprot:CLCA1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CLCA1_HUMAN garnier swissprot:CLCA1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CLCA1_HUMAN helixturnhelix swissprot:CLCA1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CLCA1_HUMAN hmoment swissprot:CLCA1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CLCA1_HUMAN iep swissprot:CLCA1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CLCA1_HUMAN inforesidue swissprot:CLCA1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CLCA1_HUMAN neXtProt NX_A8K7I4 http://www.nextprot.org/db/entry/NX_A8K7I4 octanol swissprot:CLCA1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CLCA1_HUMAN pepcoil swissprot:CLCA1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CLCA1_HUMAN pepdigest swissprot:CLCA1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CLCA1_HUMAN pepinfo swissprot:CLCA1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CLCA1_HUMAN pepnet swissprot:CLCA1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CLCA1_HUMAN pepstats swissprot:CLCA1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CLCA1_HUMAN pepwheel swissprot:CLCA1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CLCA1_HUMAN pepwindow swissprot:CLCA1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CLCA1_HUMAN sigcleave swissprot:CLCA1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CLCA1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS LASP1_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q14847-1; Sequence=Displayed; Name=2; IsoId=Q14847-2; Sequence=VSP_016554; Note=No experimental confirmation available.; Name=3; IsoId=Q14847-3; Sequence=VSP_054611; Note=No experimental confirmation available.; # AltName LASP1_HUMAN Metastatic lymph node gene 50 protein # BioGrid 110120 64 # CCDS CCDS11331 -. [Q14847-1] # CCDS CCDS62164 -. [Q14847-3] # ChiTaRS LASP1 human # Ensembl ENST00000318008 ENSP00000325240; ENSG00000002834. [Q14847-1] # Ensembl ENST00000433206 ENSP00000401048; ENSG00000002834. [Q14847-3] # Ensembl ENST00000435347 ENSP00000392853; ENSG00000002834. [Q14847-1] # ExpressionAtlas Q14847 baseline and differential # FUNCTION LASP1_HUMAN Plays an important role in the regulation of dynamic actin-based, cytoskeletal activities. Agonist-dependent changes in LASP1 phosphorylation may also serve to regulate actin-associated ion transport activities, not only in the parietal cell but also in certain other F-actin-rich secretory epithelial cell types (By similarity). {ECO 0000250}. # GO_component GO:0005737 cytoplasm; IDA:BHF-UCL. # GO_component GO:0005913 cell-cell adherens junction; IDA:BHF-UCL. # GO_component GO:0005925 focal adhesion; IDA:UniProtKB. # GO_component GO:0030864 cortical actin cytoskeleton; ISS:UniProtKB. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0005070 SH3/SH2 adaptor activity; TAS:ProtInc. # GO_function GO:0008270 zinc ion binding; IEA:InterPro. # GO_function GO:0015075 ion transmembrane transporter activity; ISS:UniProtKB. # GO_function GO:0098641 cadherin binding involved in cell-cell adhesion; IDA:BHF-UCL. # GO_process GO:0006811 ion transport; ISS:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005856 cytoskeleton # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0030674 protein binding, bridging # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # Gene3D 2.10.110.10 -; 1. # Genevisible Q14847 HS # HGNC HGNC:6513 LASP1 # INTERACTION LASP1_HUMAN D3DTR7 ARHGEF15; NbExp=3; IntAct=EBI-742828, EBI-10176602; P51116 FXR2; NbExp=3; IntAct=EBI-742828, EBI-740459; Q08379 GOLGA2; NbExp=3; IntAct=EBI-742828, EBI-618309; Q9BYR5 KRTAP4-2; NbExp=3; IntAct=EBI-742828, EBI-10172511; Q93052 LPP; NbExp=3; IntAct=EBI-742828, EBI-718388; Q9BRK4 LZTS2; NbExp=3; IntAct=EBI-742828, EBI-741037; Q99750 MDFI; NbExp=3; IntAct=EBI-742828, EBI-724076; P25788 PSMA3; NbExp=3; IntAct=EBI-742828, EBI-348380; Q93062-3 RBPMS; NbExp=4; IntAct=EBI-9088686, EBI-740343; Q04864 REL; NbExp=3; IntAct=EBI-742828, EBI-307352; Q9BQY4 RHOXF2; NbExp=3; IntAct=EBI-742828, EBI-372094; Q9UH03 SEPT3; NbExp=3; IntAct=EBI-742828, EBI-727037; Q9NP31 SH2D2A; NbExp=2; IntAct=EBI-742828, EBI-490630; O43597 SPRY2; NbExp=3; IntAct=EBI-742828, EBI-742487; P15884 TCF4; NbExp=3; IntAct=EBI-742828, EBI-533224; Q9NVV9 THAP1; NbExp=3; IntAct=EBI-742828, EBI-741515; Q9UDY2 TJP2; NbExp=9; IntAct=EBI-742828, EBI-1042602; P14373 TRIM27; NbExp=3; IntAct=EBI-742828, EBI-719493; Q15645 TRIP13; NbExp=7; IntAct=EBI-742828, EBI-358993; Q96C00 ZBTB9; NbExp=3; IntAct=EBI-742828, EBI-395708; Q96GY0 ZC2HC1A; NbExp=3; IntAct=EBI-742828, EBI-5458880; Q8IUH5 ZDHHC17; NbExp=3; IntAct=EBI-9088686, EBI-524753; Q15942 ZYX; NbExp=5; IntAct=EBI-742828, EBI-444225; # IntAct Q14847 50 # InterPro IPR000900 Nebulin_repeat # InterPro IPR001452 SH3_domain # InterPro IPR001781 Znf_LIM # MIM 602920 gene # Organism LASP1_HUMAN Homo sapiens (Human) # PDB 3I35 X-ray; 1.40 A; A=202-261 # PIR S68234 S68234 # PRINTS PR00452 SH3DOMAIN # PROSITE PS00478 LIM_DOMAIN_1 # PROSITE PS50002 SH3 # PROSITE PS50023 LIM_DOMAIN_2 # PROSITE PS51216 NEBULIN; 2 # Pfam PF00412 LIM # Pfam PF00880 Nebulin; 2 # Pfam PF14604 SH3_9 # Proteomes UP000005640 Chromosome 17 # RecName LASP1_HUMAN LIM and SH3 domain protein 1 # RefSeq NP_001258537 NM_001271608.1. [Q14847-3] # RefSeq NP_006139 NM_006148.3. [Q14847-1] # SIMILARITY Contains 1 LIM zinc-binding domain. {ECO:0000255|PROSITE-ProRule PRU00125}. # SIMILARITY Contains 1 SH3 domain. {ECO:0000255|PROSITE- ProRule PRU00192}. # SIMILARITY Contains 2 nebulin repeats. {ECO:0000255|PROSITE- ProRule PRU00563}. # SMART SM00132 LIM # SMART SM00227 NEBU; 2 # SMART SM00326 SH3 # SUBCELLULAR LOCATION LASP1_HUMAN Cytoplasm, cell cortex {ECO 0000250}. Cytoplasm, cytoskeleton {ECO 0000250}. Note=Associated with the F- actin rich cortical cytoskeleton. {ECO 0000250}. # SUBUNIT Interacts with F-actin (By similarity). Interacts with ANKRD54 (By similarity). Interacts with KBTBD10. {ECO:0000250, ECO 0000269|PubMed:19726686}. # SUPFAM SSF50044 SSF50044 # UCSC uc002hra human. [Q14847-1] # WEB RESOURCE LASP1_HUMAN Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http //atlasgeneticsoncology.org/Genes/Lasp1ID203.html"; # eggNOG ENOG4111GQ8 LUCA # eggNOG KOG1702 Eukaryota BLAST swissprot:LASP1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:LASP1_HUMAN BioCyc ZFISH:ENSG00000002834-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000002834-MONOMER COXPRESdb 3927 http://coxpresdb.jp/data/gene/3927.shtml CleanEx HS_LASP1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_LASP1 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1006/geno.1995.1163 http://dx.doi.org/10.1006/geno.1995.1163 DOI 10.1016/0014-5793(95)01040-L http://dx.doi.org/10.1016/0014-5793(95)01040-L DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/pr070152u http://dx.doi.org/10.1021/pr070152u DOI 10.1021/pr0704130 http://dx.doi.org/10.1021/pr0704130 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature04689 http://dx.doi.org/10.1038/nature04689 DOI 10.1038/nbt810 http://dx.doi.org/10.1038/nbt810 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1074/jbc.M109.023259 http://dx.doi.org/10.1074/jbc.M109.023259 DOI 10.1074/mcp.O113.027870 http://dx.doi.org/10.1074/mcp.O113.027870 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1175371 http://dx.doi.org/10.1126/science.1175371 DOI 10.1126/scisignal.2000007 http://dx.doi.org/10.1126/scisignal.2000007 DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AC006441 http://www.ebi.ac.uk/ena/data/view/AC006441 EMBL AC110749 http://www.ebi.ac.uk/ena/data/view/AC110749 EMBL AK294704 http://www.ebi.ac.uk/ena/data/view/AK294704 EMBL BC007560 http://www.ebi.ac.uk/ena/data/view/BC007560 EMBL BC012460 http://www.ebi.ac.uk/ena/data/view/BC012460 EMBL X82456 http://www.ebi.ac.uk/ena/data/view/X82456 Ensembl ENST00000318008 http://www.ensembl.org/id/ENST00000318008 Ensembl ENST00000433206 http://www.ensembl.org/id/ENST00000433206 Ensembl ENST00000435347 http://www.ensembl.org/id/ENST00000435347 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005913 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005913 GO_component GO:0005925 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005925 GO_component GO:0030864 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030864 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0005070 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005070 GO_function GO:0008270 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008270 GO_function GO:0015075 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015075 GO_function GO:0098641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0098641 GO_process GO:0006811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006811 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005856 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0030674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030674 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 Gene3D 2.10.110.10 http://www.cathdb.info/version/latest/superfamily/2.10.110.10 GeneCards LASP1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=LASP1 GeneID 3927 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=3927 GeneTree ENSGT00530000062924 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000062924 HGNC HGNC:6513 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6513 HOGENOM HOG000006616 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000006616&db=HOGENOM6 HOVERGEN HBG054636 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG054636&db=HOVERGEN HPA CAB022049 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB022049 HPA HPA012072 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA012072 InParanoid Q14847 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q14847 IntAct Q14847 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q14847* InterPro IPR000900 http://www.ebi.ac.uk/interpro/entry/IPR000900 InterPro IPR001452 http://www.ebi.ac.uk/interpro/entry/IPR001452 InterPro IPR001781 http://www.ebi.ac.uk/interpro/entry/IPR001781 Jabion 3927 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=3927 KEGG_Gene hsa:3927 http://www.genome.jp/dbget-bin/www_bget?hsa:3927 MIM 602920 http://www.ncbi.nlm.nih.gov/omim/602920 MINT MINT-5001286 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-5001286 OMA YGYKEPA http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=YGYKEPA OrthoDB EOG091G0U2O http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0U2O PDB 3I35 http://www.ebi.ac.uk/pdbe-srv/view/entry/3I35 PDBsum 3I35 http://www.ebi.ac.uk/pdbsum/3I35 PRINTS PR00452 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00452 PROSITE PS00478 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00478 PROSITE PS50002 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50002 PROSITE PS50023 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50023 PROSITE PS51216 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51216 PSORT swissprot:LASP1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:LASP1_HUMAN PSORT-B swissprot:LASP1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:LASP1_HUMAN PSORT2 swissprot:LASP1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:LASP1_HUMAN Pfam PF00412 http://pfam.xfam.org/family/PF00412 Pfam PF00880 http://pfam.xfam.org/family/PF00880 Pfam PF14604 http://pfam.xfam.org/family/PF14604 PharmGKB PA30298 http://www.pharmgkb.org/do/serve?objId=PA30298&objCls=Gene Phobius swissprot:LASP1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:LASP1_HUMAN PhylomeDB Q14847 http://phylomedb.org/?seqid=Q14847 ProteinModelPortal Q14847 http://www.proteinmodelportal.org/query/uniprot/Q14847 PubMed 12665801 http://www.ncbi.nlm.nih.gov/pubmed/12665801 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16625196 http://www.ncbi.nlm.nih.gov/pubmed/16625196 PubMed 17924679 http://www.ncbi.nlm.nih.gov/pubmed/17924679 PubMed 18088087 http://www.ncbi.nlm.nih.gov/pubmed/18088087 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 19608861 http://www.ncbi.nlm.nih.gov/pubmed/19608861 PubMed 19690332 http://www.ncbi.nlm.nih.gov/pubmed/19690332 PubMed 19726686 http://www.ncbi.nlm.nih.gov/pubmed/19726686 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 24129315 http://www.ncbi.nlm.nih.gov/pubmed/24129315 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 7490069 http://www.ncbi.nlm.nih.gov/pubmed/7490069 PubMed 7589475 http://www.ncbi.nlm.nih.gov/pubmed/7589475 RefSeq NP_001258537 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001258537 RefSeq NP_006139 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_006139 SMART SM00132 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00132 SMART SM00227 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00227 SMART SM00326 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00326 SMR Q14847 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q14847 STRING 9606.ENSP00000325240 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000325240&targetmode=cogs SUPFAM SSF50044 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF50044 SWISS-2DPAGE Q14847 http://world-2dpage.expasy.org/swiss-2dpage/protein/ac=Q14847 UCSC uc002hra http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002hra&org=rat UniGene Hs.741156 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.741156 UniProtKB LASP1_HUMAN http://www.uniprot.org/uniprot/LASP1_HUMAN UniProtKB-AC Q14847 http://www.uniprot.org/uniprot/Q14847 charge swissprot:LASP1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:LASP1_HUMAN eggNOG ENOG4111GQ8 http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111GQ8 eggNOG KOG1702 http://eggnogapi.embl.de/nog_data/html/tree/KOG1702 epestfind swissprot:LASP1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:LASP1_HUMAN garnier swissprot:LASP1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:LASP1_HUMAN helixturnhelix swissprot:LASP1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:LASP1_HUMAN hmoment swissprot:LASP1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:LASP1_HUMAN iep swissprot:LASP1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:LASP1_HUMAN inforesidue swissprot:LASP1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:LASP1_HUMAN neXtProt NX_Q14847 http://www.nextprot.org/db/entry/NX_Q14847 octanol swissprot:LASP1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:LASP1_HUMAN pepcoil swissprot:LASP1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:LASP1_HUMAN pepdigest swissprot:LASP1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:LASP1_HUMAN pepinfo swissprot:LASP1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:LASP1_HUMAN pepnet swissprot:LASP1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:LASP1_HUMAN pepstats swissprot:LASP1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:LASP1_HUMAN pepwheel swissprot:LASP1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:LASP1_HUMAN pepwindow swissprot:LASP1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:LASP1_HUMAN sigcleave swissprot:LASP1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:LASP1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS Event=Alternative splicing; Named isoforms=5; Name=1; IsoId=Q9NW15-1; Sequence=Displayed; Name=2; IsoId=Q9NW15-2; Sequence=VSP_026033; Note=No experimental confirmation available.; Name=3; IsoId=Q9NW15-3; Sequence=VSP_038212; Note=No experimental confirmation available.; Name=4; IsoId=Q9NW15-4; Sequence=VSP_038211; Note=No experimental confirmation available.; Name=5; IsoId=Q9NW15-5; Sequence=VSP_045885; Note=No experimental confirmation available. Ref.1 (BAG60264) sequence is in conflict in position: 607 S->P. {ECO:0000305}; # AltName ANO10_HUMAN Transmembrane protein 16K # BioGrid 120435 3 # CCDS CCDS2710 -. [Q9NW15-1] # CCDS CCDS56247 -. [Q9NW15-4] # CCDS CCDS56248 -. [Q9NW15-3] # CCDS CCDS56249 -. [Q9NW15-2] # CCDS CCDS56250 -. [Q9NW15-5] # ChiTaRS ANO10 human # DISEASE ANO10_HUMAN Spinocerebellar ataxia, autosomal recessive, 10 (SCAR10) [MIM 613728] Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR10 is characterized by onset in the teenage or young adult years of gait and limb ataxia, dysarthria, and nystagmus associated with marked cerebellar atrophy on brain imaging. {ECO 0000269|PubMed 21092923}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000292246 ENSP00000292246; ENSG00000160746. [Q9NW15-1] # Ensembl ENST00000350459 ENSP00000327767; ENSG00000160746. [Q9NW15-2] # Ensembl ENST00000396091 ENSP00000379398; ENSG00000160746. [Q9NW15-3] # Ensembl ENST00000414522 ENSP00000396990; ENSG00000160746. [Q9NW15-5] # Ensembl ENST00000451430 ENSP00000394119; ENSG00000160746. [Q9NW15-4] # ExpressionAtlas Q9NW15 baseline and differential # FUNCTION ANO10_HUMAN Does not exhibit calcium-activated chloride channel (CaCC) activity. Can inhibit the activity of ANO1. {ECO 0000269|PubMed 20056604, ECO 0000269|PubMed 22946059}. # GO_component GO:0005622 intracellular; IDA:UniProtKB. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0005227 calcium activated cation channel activity; IDA:UniProtKB. # GO_function GO:0005229 intracellular calcium activated chloride channel activity; IDA:UniProtKB. # GO_process GO:0006812 cation transport; IDA:UniProtKB. # GO_process GO:0006821 chloride transport; IDA:UniProtKB. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005622 intracellular # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0055085 transmembrane transport # Genevisible Q9NW15 HS # HGNC HGNC:25519 ANO10 # IntAct Q9NW15 3 # InterPro IPR007632 Anoctamin # InterPro IPR031291 Anoctamin-10 # KEGG_Disease H00063 [Neurodegenerative disease] Spinocerebellar ataxia (SCA) # MIM 613726 gene # MIM 613728 phenotype # MISCELLANEOUS ANO10_HUMAN The term 'anoctamin' was coined because these channels are anion selective and have eight (OCT) transmembrane segments. There is some dissatisfaction in the field with the Ano nomenclature because it is not certain that all the members of this family are anion channels or have the 8-transmembrane topology. # Organism ANO10_HUMAN Homo sapiens (Human) # Orphanet 284289 Adult-onset autosomal recessive cerebellar ataxia # PANTHER PTHR12308 PTHR12308 # PANTHER PTHR12308:SF40 PTHR12308:SF40 # Pfam PF04547 Anoctamin # Proteomes UP000005640 Chromosome 3 # Reactome R-HSA-2672351 Stimuli-sensing channels # RecName ANO10_HUMAN Anoctamin-10 # RefSeq NP_001191760 NM_001204831.1. [Q9NW15-5] # RefSeq NP_001191761 NM_001204832.1. [Q9NW15-3] # RefSeq NP_001191762 NM_001204833.1. [Q9NW15-4] # RefSeq NP_001191763 NM_001204834.1. [Q9NW15-2] # RefSeq NP_060545 NM_018075.3. [Q9NW15-1] # RefSeq XP_016862210 XM_017006721.1. [Q9NW15-3] # RefSeq XP_016862211 XM_017006722.1. [Q9NW15-3] # SEQUENCE CAUTION Sequence=BAA91573.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence.; Evidence={ECO:0000305}; Sequence=BC038855; Type=Frameshift; Positions=42; Evidence={ECO 0000305}; # SIMILARITY Belongs to the anoctamin family. {ECO 0000305}. # SUBCELLULAR LOCATION ANO10_HUMAN Cell membrane {ECO 0000269|PubMed 20056604, ECO 0000269|PubMed 22075693, ECO 0000269|PubMed 22946059}; Multi- pass membrane protein {ECO 0000269|PubMed 20056604, ECO 0000269|PubMed 22075693, ECO 0000269|PubMed 22946059}. Note=Shows predominantly an intracellular localization with a weak expression in the cell membrane. # TISSUE SPECIFICITY Highly expressed in the brain. Intermediate levels in the retina and heart and low levels in the placenta, liver, lung, duodenum, kidney, testis and spleen. In brain areas, highest expression in the frontal and occipital cortices and in the cerebellum. Lower expression in the fetal brain than in the adult brain. {ECO:0000269|PubMed 21092923}. # UCSC uc003cmv human. [Q9NW15-1] # eggNOG ENOG410XPYE LUCA # eggNOG KOG2513 Eukaryota BLAST swissprot:ANO10_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ANO10_HUMAN BioCyc ZFISH:ENSG00000160746-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000160746-MONOMER COXPRESdb 55129 http://coxpresdb.jp/data/gene/55129.shtml CleanEx HS_ANO10 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ANO10 DOI 10.1007/s00424-011-0975-9 http://dx.doi.org/10.1007/s00424-011-0975-9 DOI 10.1016/j.ajhg.2010.10.015 http://dx.doi.org/10.1016/j.ajhg.2010.10.015 DOI 10.1038/aps.2011.48 http://dx.doi.org/10.1038/aps.2011.48 DOI 10.1038/nature04728 http://dx.doi.org/10.1038/nature04728 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.M109.065367 http://dx.doi.org/10.1074/jbc.M109.065367 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1113/expphysiol.2011.058198 http://dx.doi.org/10.1113/expphysiol.2011.058198 DOI 10.1113/expphysiol.2011.058214 http://dx.doi.org/10.1113/expphysiol.2011.058214 DOI 10.1152/ajpcell.00140.2011 http://dx.doi.org/10.1152/ajpcell.00140.2011 DOI 10.1242/jcs.109553 http://dx.doi.org/10.1242/jcs.109553 EMBL AC097638 http://www.ebi.ac.uk/ena/data/view/AC097638 EMBL AC104184 http://www.ebi.ac.uk/ena/data/view/AC104184 EMBL AC105903 http://www.ebi.ac.uk/ena/data/view/AC105903 EMBL AC135852 http://www.ebi.ac.uk/ena/data/view/AC135852 EMBL AK001237 http://www.ebi.ac.uk/ena/data/view/AK001237 EMBL AK096302 http://www.ebi.ac.uk/ena/data/view/AK096302 EMBL AK131223 http://www.ebi.ac.uk/ena/data/view/AK131223 EMBL AK292368 http://www.ebi.ac.uk/ena/data/view/AK292368 EMBL AK295969 http://www.ebi.ac.uk/ena/data/view/AK295969 EMBL AK297949 http://www.ebi.ac.uk/ena/data/view/AK297949 EMBL BC038855 http://www.ebi.ac.uk/ena/data/view/BC038855 EMBL CH471055 http://www.ebi.ac.uk/ena/data/view/CH471055 EMBL CH471055 http://www.ebi.ac.uk/ena/data/view/CH471055 Ensembl ENST00000292246 http://www.ensembl.org/id/ENST00000292246 Ensembl ENST00000350459 http://www.ensembl.org/id/ENST00000350459 Ensembl ENST00000396091 http://www.ensembl.org/id/ENST00000396091 Ensembl ENST00000414522 http://www.ensembl.org/id/ENST00000414522 Ensembl ENST00000451430 http://www.ensembl.org/id/ENST00000451430 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005622 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005622 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005227 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005227 GO_function GO:0005229 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005229 GO_process GO:0006812 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006812 GO_process GO:0006821 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006821 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005622 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005622 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards ANO10 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ANO10 GeneID 55129 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=55129 GeneTree ENSGT00760000119015 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119015 HGNC HGNC:25519 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:25519 HOGENOM HOG000007605 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000007605&db=HOGENOM6 HOVERGEN HBG071385 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG071385&db=HOVERGEN HPA HPA051569 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA051569 InParanoid Q9NW15 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9NW15 IntAct Q9NW15 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9NW15* InterPro IPR007632 http://www.ebi.ac.uk/interpro/entry/IPR007632 InterPro IPR031291 http://www.ebi.ac.uk/interpro/entry/IPR031291 Jabion 55129 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=55129 KEGG_Disease H00063 http://www.genome.jp/dbget-bin/www_bget?H00063 KEGG_Gene hsa:55129 http://www.genome.jp/dbget-bin/www_bget?hsa:55129 MIM 613726 http://www.ncbi.nlm.nih.gov/omim/613726 MIM 613728 http://www.ncbi.nlm.nih.gov/omim/613728 OMA LENQNLY http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=LENQNLY Orphanet 284289 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=284289 OrthoDB EOG091G06A3 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G06A3 PANTHER PTHR12308 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12308 PANTHER PTHR12308:SF40 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12308:SF40 PSORT swissprot:ANO10_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ANO10_HUMAN PSORT-B swissprot:ANO10_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ANO10_HUMAN PSORT2 swissprot:ANO10_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ANO10_HUMAN Pfam PF04547 http://pfam.xfam.org/family/PF04547 PharmGKB PA164715433 http://www.pharmgkb.org/do/serve?objId=PA164715433&objCls=Gene Phobius swissprot:ANO10_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ANO10_HUMAN PhylomeDB Q9NW15 http://phylomedb.org/?seqid=Q9NW15 ProteinModelPortal Q9NW15 http://www.proteinmodelportal.org/query/uniprot/Q9NW15 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16641997 http://www.ncbi.nlm.nih.gov/pubmed/16641997 PubMed 20056604 http://www.ncbi.nlm.nih.gov/pubmed/20056604 PubMed 21092923 http://www.ncbi.nlm.nih.gov/pubmed/21092923 PubMed 21607626 http://www.ncbi.nlm.nih.gov/pubmed/21607626 PubMed 21642943 http://www.ncbi.nlm.nih.gov/pubmed/21642943 PubMed 21984732 http://www.ncbi.nlm.nih.gov/pubmed/21984732 PubMed 22075693 http://www.ncbi.nlm.nih.gov/pubmed/22075693 PubMed 22302790 http://www.ncbi.nlm.nih.gov/pubmed/22302790 PubMed 22946059 http://www.ncbi.nlm.nih.gov/pubmed/22946059 Reactome R-HSA-2672351 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2672351 RefSeq NP_001191760 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001191760 RefSeq NP_001191761 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001191761 RefSeq NP_001191762 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001191762 RefSeq NP_001191763 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001191763 RefSeq NP_060545 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_060545 RefSeq XP_016862210 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016862210 RefSeq XP_016862211 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016862211 STRING 9606.ENSP00000292246 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000292246&targetmode=cogs UCSC uc003cmv http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003cmv&org=rat UniGene Hs.656657 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.656657 UniProtKB ANO10_HUMAN http://www.uniprot.org/uniprot/ANO10_HUMAN UniProtKB-AC Q9NW15 http://www.uniprot.org/uniprot/Q9NW15 charge swissprot:ANO10_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ANO10_HUMAN eggNOG ENOG410XPYE http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XPYE eggNOG KOG2513 http://eggnogapi.embl.de/nog_data/html/tree/KOG2513 epestfind swissprot:ANO10_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ANO10_HUMAN garnier swissprot:ANO10_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ANO10_HUMAN helixturnhelix swissprot:ANO10_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ANO10_HUMAN hmoment swissprot:ANO10_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ANO10_HUMAN iep swissprot:ANO10_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ANO10_HUMAN inforesidue swissprot:ANO10_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ANO10_HUMAN neXtProt NX_Q9NW15 http://www.nextprot.org/db/entry/NX_Q9NW15 octanol swissprot:ANO10_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ANO10_HUMAN pepcoil swissprot:ANO10_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ANO10_HUMAN pepdigest swissprot:ANO10_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ANO10_HUMAN pepinfo swissprot:ANO10_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ANO10_HUMAN pepnet swissprot:ANO10_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ANO10_HUMAN pepstats swissprot:ANO10_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ANO10_HUMAN pepwheel swissprot:ANO10_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ANO10_HUMAN pepwindow swissprot:ANO10_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ANO10_HUMAN sigcleave swissprot:ANO10_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ANO10_HUMAN ## Database ID URL or Descriptions # AltName VA0D1_HUMAN 32 kDa accessory protein # AltName VA0D1_HUMAN V-ATPase 40 kDa accessory protein # AltName VA0D1_HUMAN V-ATPase AC39 subunit # AltName VA0D1_HUMAN Vacuolar proton pump subunit d 1 # BioGrid 114564 118 # ChiTaRS ATP6V0D1 human # Ensembl ENST00000290949 ENSP00000290949; ENSG00000159720 # ExpressionAtlas P61421 baseline and differential # FUNCTION VA0D1_HUMAN Subunit of the integral membrane V0 complex of vacuolar ATPase. Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells, thus providing most of the energy required for transport processes in the vacuolar system. May play a role in coupling of proton transport and ATP hydrolysis (By similarity). May play a role in cilium biogenesis through regulation of the transport and the localization of proteins to the cilium (By similarity). {ECO 0000250}. # GO_component GO:0005765 lysosomal membrane; IDA:UniProtKB. # GO_component GO:0005769 early endosome; IBA:GO_Central. # GO_component GO:0008021 synaptic vesicle; IEA:Ensembl. # GO_component GO:0010008 endosome membrane; TAS:Reactome. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0016324 apical plasma membrane; IEA:Ensembl. # GO_component GO:0016471 vacuolar proton-transporting V-type ATPase complex; IDA:UniProtKB. # GO_component GO:0030670 phagocytic vesicle membrane; TAS:Reactome. # GO_component GO:0033179 proton-transporting V-type ATPase, V0 domain; IEA:InterPro. # GO_component GO:0033181 plasma membrane proton-transporting V-type ATPase complex; IBA:GO_Central. # GO_component GO:0043679 axon terminus; IEA:Ensembl. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0008553 hydrogen-exporting ATPase activity, phosphorylative mechanism; IBA:GO_Central. # GO_function GO:0046961 proton-transporting ATPase activity, rotational mechanism; IBA:GO_Central. # GO_process GO:0007034 vacuolar transport; IBA:GO_Central. # GO_process GO:0007035 vacuolar acidification; IBA:GO_Central. # GO_process GO:0007420 brain development; IEA:Ensembl. # GO_process GO:0008286 insulin receptor signaling pathway; TAS:Reactome. # GO_process GO:0015991 ATP hydrolysis coupled proton transport; IEA:InterPro. # GO_process GO:0015992 proton transport; NAS:UniProtKB. # GO_process GO:0016241 regulation of macroautophagy; NAS:ParkinsonsUK-UCL. # GO_process GO:0033572 transferrin transport; TAS:Reactome. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0036498 IRE1-mediated unfolded protein response; TAS:Reactome. # GO_process GO:0042384 cilium assembly; ISS:UniProtKB. # GO_process GO:0090383 phagosome acidification; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005768 endosome # GOslim_component GO:0031410 cytoplasmic vesicle # GOslim_component GO:0043226 organelle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007034 vacuolar transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0055085 transmembrane transport # Genevisible P61421 HS # HGNC HGNC:13724 ATP6V0D1 # IntAct P61421 38 # InterPro IPR002843 ATPase_V0-cplx_csu/dsu # InterPro IPR016727 ATPase_V0-cplx_dsu # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Brite ko01000 Enzymes # KEGG_Pathway ko00190 Oxidative phosphorylation # KEGG_Pathway ko04142 Lysosome # KEGG_Pathway ko04145 Phagosome # KEGG_Pathway ko04721 Synaptic vesicle cycle # KEGG_Pathway ko04966 Collecting duct acid secretion # KEGG_Pathway ko05110 Vibrio cholerae infection # KEGG_Pathway ko05120 Epithelial cell signaling in Helicobacter pylori infection # KEGG_Pathway ko05152 Tuberculosis # KEGG_Pathway ko05203 Viral carcinogenesis # KEGG_Pathway ko05323 Rheumatoid arthritis # MIM 607028 gene # Organism VA0D1_HUMAN Homo sapiens (Human) # PANTHER PTHR11028 PTHR11028 # PIRSF PIRSF018497 V-ATP_synth_D # Pfam PF01992 vATP-synt_AC39 # Proteomes UP000005640 Chromosome 16 # Reactome R-HSA-1222556 ROS, RNS production in response to bacteria # Reactome R-HSA-381038 XBP1(S) activates chaperone genes # Reactome R-HSA-77387 Insulin receptor recycling # Reactome R-HSA-917977 Transferrin endocytosis and recycling # Reactome R-HSA-983712 Ion channel transport # RecName VA0D1_HUMAN V-type proton ATPase subunit d 1 # RefSeq NP_004682 NM_004691.4 # SEQUENCE CAUTION Sequence=CAA50591.1; Type=Frameshift; Positions=22, 25, 64, 66; Evidence={ECO 0000305}; # SIMILARITY Belongs to the V-ATPase V0D/AC39 subunit family. {ECO 0000305}. # SUBCELLULAR LOCATION VA0D1_HUMAN Membrane {ECO 0000305|PubMed 21844891}; Peripheral membrane protein {ECO 0000305|PubMed 21844891}; Cytoplasmic side {ECO 0000305|PubMed 21844891}. Note=Localizes to centrosome and the base of the cilium. # SUBUNIT V-ATPase is a heteromultimeric enzyme composed of a peripheral catalytic V1 complex (components A to H) attached to an integral membrane V0 proton pore complex (components a, c, c', c'' and d). # SUPFAM SSF103486 SSF103486 # TCDB 3.A.2.2 the h(+)- or na(+)-translocating f-type, v-type and a-type atpase (f-atpase) superfamily # TISSUE SPECIFICITY VA0D1_HUMAN Ubiquitous. {ECO 0000269|PubMed 12384298, ECO 0000269|PubMed 8250920}. # UCSC uc002ete human # eggNOG COG1527 LUCA # eggNOG KOG2957 Eukaryota BLAST swissprot:VA0D1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:VA0D1_HUMAN BioCyc MetaCyc:HS08417-MONOMER http://biocyc.org/getid?id=MetaCyc:HS08417-MONOMER BioCyc ZFISH:HS08417-MONOMER http://biocyc.org/getid?id=ZFISH:HS08417-MONOMER COG COG1527 http://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=COG1527 COXPRESdb 9114 http://coxpresdb.jp/data/gene/9114.shtml CleanEx HS_ATP6V0D1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ATP6V0D1 DIP DIP-47435N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-47435N DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1006/bbrc.1993.2434 http://dx.doi.org/10.1006/bbrc.1993.2434 DOI 10.1006/bbrc.2000.4003 http://dx.doi.org/10.1006/bbrc.2000.4003 DOI 10.1016/S0378-1119(02)00884-3 http://dx.doi.org/10.1016/S0378-1119(02)00884-3 DOI 10.1038/cr.2011.134 http://dx.doi.org/10.1038/cr.2011.134 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL BC008861 http://www.ebi.ac.uk/ena/data/view/BC008861 EMBL L05087 http://www.ebi.ac.uk/ena/data/view/L05087 EMBL X71490 http://www.ebi.ac.uk/ena/data/view/X71490 Ensembl ENST00000290949 http://www.ensembl.org/id/ENST00000290949 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005765 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005765 GO_component GO:0005769 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005769 GO_component GO:0008021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008021 GO_component GO:0010008 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010008 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:0016471 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016471 GO_component GO:0030670 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030670 GO_component GO:0033179 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033179 GO_component GO:0033181 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033181 GO_component GO:0043679 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043679 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0008553 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008553 GO_function GO:0046961 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046961 GO_process GO:0007034 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007034 GO_process GO:0007035 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007035 GO_process GO:0007420 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007420 GO_process GO:0008286 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008286 GO_process GO:0015991 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015991 GO_process GO:0015992 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015992 GO_process GO:0016241 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016241 GO_process GO:0033572 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033572 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0036498 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0036498 GO_process GO:0042384 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042384 GO_process GO:0090383 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090383 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GOslim_component GO:0031410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007034 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007034 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards ATP6V0D1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ATP6V0D1 GeneID 9114 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=9114 GeneTree ENSGT00390000002200 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000002200 HGNC HGNC:13724 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:13724 HOGENOM HOG000199065 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000199065&db=HOGENOM6 HOVERGEN HBG018065 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG018065&db=HOVERGEN HPA HPA016938 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA016938 InParanoid P61421 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P61421 IntAct P61421 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P61421* InterPro IPR002843 http://www.ebi.ac.uk/interpro/entry/IPR002843 InterPro IPR016727 http://www.ebi.ac.uk/interpro/entry/IPR016727 Jabion 9114 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=9114 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00002 http://www.genome.jp/dbget-bin/www_bget?ko00002 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Gene hsa:9114 http://www.genome.jp/dbget-bin/www_bget?hsa:9114 KEGG_Orthology KO:K02146 http://www.genome.jp/dbget-bin/www_bget?KO:K02146 KEGG_Pathway ko00190 http://www.genome.jp/kegg-bin/show_pathway?ko00190 KEGG_Pathway ko04142 http://www.genome.jp/kegg-bin/show_pathway?ko04142 KEGG_Pathway ko04145 http://www.genome.jp/kegg-bin/show_pathway?ko04145 KEGG_Pathway ko04721 http://www.genome.jp/kegg-bin/show_pathway?ko04721 KEGG_Pathway ko04966 http://www.genome.jp/kegg-bin/show_pathway?ko04966 KEGG_Pathway ko05110 http://www.genome.jp/kegg-bin/show_pathway?ko05110 KEGG_Pathway ko05120 http://www.genome.jp/kegg-bin/show_pathway?ko05120 KEGG_Pathway ko05152 http://www.genome.jp/kegg-bin/show_pathway?ko05152 KEGG_Pathway ko05203 http://www.genome.jp/kegg-bin/show_pathway?ko05203 KEGG_Pathway ko05323 http://www.genome.jp/kegg-bin/show_pathway?ko05323 MIM 607028 http://www.ncbi.nlm.nih.gov/omim/607028 MINT MINT-5006032 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-5006032 PANTHER PTHR11028 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11028 PSORT swissprot:VA0D1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:VA0D1_HUMAN PSORT-B swissprot:VA0D1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:VA0D1_HUMAN PSORT2 swissprot:VA0D1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:VA0D1_HUMAN Pfam PF01992 http://pfam.xfam.org/family/PF01992 PharmGKB PA25150 http://www.pharmgkb.org/do/serve?objId=PA25150&objCls=Gene Phobius swissprot:VA0D1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:VA0D1_HUMAN PhylomeDB P61421 http://phylomedb.org/?seqid=P61421 ProteinModelPortal P61421 http://www.proteinmodelportal.org/query/uniprot/P61421 PubMed 11118322 http://www.ncbi.nlm.nih.gov/pubmed/11118322 PubMed 12384298 http://www.ncbi.nlm.nih.gov/pubmed/12384298 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 21844891 http://www.ncbi.nlm.nih.gov/pubmed/21844891 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 8250920 http://www.ncbi.nlm.nih.gov/pubmed/8250920 Reactome R-HSA-1222556 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1222556 Reactome R-HSA-381038 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-381038 Reactome R-HSA-77387 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-77387 Reactome R-HSA-917977 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-917977 Reactome R-HSA-983712 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-983712 RefSeq NP_004682 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004682 STRING 9606.ENSP00000290949 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000290949&targetmode=cogs STRING COG1527 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=COG1527&targetmode=cogs SUPFAM SSF103486 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103486 TCDB 3.A.2.2 http://www.tcdb.org/search/result.php?tc=3.A.2.2 UCSC uc002ete http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002ete&org=rat UniGene Hs.106876 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.106876 UniProtKB VA0D1_HUMAN http://www.uniprot.org/uniprot/VA0D1_HUMAN UniProtKB-AC P61421 http://www.uniprot.org/uniprot/P61421 charge swissprot:VA0D1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:VA0D1_HUMAN eggNOG COG1527 http://eggnogapi.embl.de/nog_data/html/tree/COG1527 eggNOG KOG2957 http://eggnogapi.embl.de/nog_data/html/tree/KOG2957 epestfind swissprot:VA0D1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:VA0D1_HUMAN garnier swissprot:VA0D1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:VA0D1_HUMAN helixturnhelix swissprot:VA0D1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:VA0D1_HUMAN hmoment swissprot:VA0D1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:VA0D1_HUMAN iep swissprot:VA0D1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:VA0D1_HUMAN inforesidue swissprot:VA0D1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:VA0D1_HUMAN neXtProt NX_P61421 http://www.nextprot.org/db/entry/NX_P61421 octanol swissprot:VA0D1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:VA0D1_HUMAN pepcoil swissprot:VA0D1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:VA0D1_HUMAN pepdigest swissprot:VA0D1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:VA0D1_HUMAN pepinfo swissprot:VA0D1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:VA0D1_HUMAN pepnet swissprot:VA0D1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:VA0D1_HUMAN pepstats swissprot:VA0D1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:VA0D1_HUMAN pepwheel swissprot:VA0D1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:VA0D1_HUMAN pepwindow swissprot:VA0D1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:VA0D1_HUMAN sigcleave swissprot:VA0D1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:VA0D1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS SCMC1_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q6NUK1-1; Sequence=Displayed; Name=2; IsoId=Q6NUK1-2; Sequence=VSP_031066; # AltName SCMC1_HUMAN Mitochondrial ATP-Mg/Pi carrier protein 1 # AltName SCMC1_HUMAN Mitochondrial Ca(2+)-dependent solute carrier protein 1 # AltName SCMC1_HUMAN Small calcium-binding mitochondrial carrier protein 1 # AltName SCMC1_HUMAN Solute carrier family 25 member 24 # BIOPHYSICOCHEMICAL PROPERTIES SCMC1_HUMAN Kinetic parameters KM=0.97 mM for AMP {ECO 0000269|PubMed 15123600}; KM=0.3 mM for ADP {ECO 0000269|PubMed 15123600}; KM=0.33 mM for ATP {ECO 0000269|PubMed 15123600}; KM=0.2 mM for ATP-Mg {ECO 0000269|PubMed 15123600}; KM=1.64 mM for Pi {ECO 0000269|PubMed 15123600}; Vmax=337 umol/min/g enzyme with AMP as substrate {ECO 0000269|PubMed 15123600}; Vmax=345 umol/min/g enzyme with ADP as substrate {ECO 0000269|PubMed 15123600}; Vmax=320 umol/min/g enzyme with ATP as substrate {ECO 0000269|PubMed 15123600}; Vmax=365 umol/min/g enzyme with ATP-Mg as substrate {ECO 0000269|PubMed 15123600}; Vmax=380 umol/min/g enzyme with Pi as substrate {ECO 0000269|PubMed 15123600}; # BioGrid 118993 29 # CCDS CCDS41361 -. [Q6NUK1-1] # CCDS CCDS786 -. [Q6NUK1-2] # CDD cd00051 EFh; 2 # ChiTaRS SLC25A24 human # DOMAIN SCMC1_HUMAN The N-terminal domain can bind calcium and regulates the ATP carrier activity of the transmembrane domain. The apo form of the N-terminal domain is intrinsically disordered and binds to the transmembrane domain, leading to inhibition of the ATP carrier activity. Calcium binding leads to a major conformation change and abolishes the interaction with the transmembrane domain and the inhibition of the ATP carrier activity (PubMed 24332718). {ECO 0000269|PubMed 24332718}. # Ensembl ENST00000370041 ENSP00000359058; ENSG00000085491. [Q6NUK1-2] # Ensembl ENST00000565488 ENSP00000457733; ENSG00000085491. [Q6NUK1-1] # ExpressionAtlas Q6NUK1 baseline and differential # FUNCTION SCMC1_HUMAN Calcium-dependent mitochondrial solute carrier. Mediates the reversible, electroneutral exchange of Mg-ATP or Mg-ADP against phosphate ions, catalyzing the net uptake or efflux of adenine nucleotides across the mitochondrial inner membrane. Nucleotide transport is inactive when cytosolic calcium levels are low, and is activated by an increase in cytosolic calcium levels. May play a role in protecting cells against oxidative stress- induced cell death, probably by promoting the formation of calcium-phosphate precipitates in the mitochondrial matrix, and thereby buffering calcium levels in the mitochondrial matrix. {ECO 0000269|PubMed 15123600, ECO 0000269|PubMed 22015608}. # GO_component GO:0005739 mitochondrion; IDA:UniProtKB. # GO_component GO:0005743 mitochondrial inner membrane; IEA:UniProtKB-SubCell. # GO_component GO:0016021 integral component of membrane; IDA:UniProtKB. # GO_function GO:0005347 ATP transmembrane transporter activity; IMP:UniProtKB. # GO_function GO:0005509 calcium ion binding; IDA:UniProtKB. # GO_process GO:0006839 mitochondrial transport; IMP:UniProtKB. # GO_process GO:0010941 regulation of cell death; IMP:UniProtKB. # GO_process GO:0015867 ATP transport; IMP:UniProtKB. # GO_process GO:0034599 cellular response to oxidative stress; IMP:UniProtKB. # GO_process GO:0071277 cellular response to calcium ion; IMP:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005739 mitochondrion # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0008150 biological_process # Gene3D 1.10.238.10 -; 1. # Gene3D 1.50.40.10 -; 1. # Genevisible Q6NUK1 HS # HGNC HGNC:20662 SLC25A24 # IntAct Q6NUK1 5 # InterPro IPR002048 EF_hand_dom # InterPro IPR002067 Mit_carrier # InterPro IPR002167 Graves_DC # InterPro IPR011992 EF-hand-dom_pair # InterPro IPR018108 Mitochondrial_sb/sol_carrier # InterPro IPR018247 EF_Hand_1_Ca_BS # InterPro IPR023395 Mt_carrier_dom # KEGG_Brite ko02001 Solute carrier family # MIM 608744 gene # Organism SCMC1_HUMAN Homo sapiens (Human) # PDB 4N5X X-ray; 2.10 A; A=1-193 # PDB 4ZCU X-ray; 2.10 A; A/B/C=14-174 # PDB 4ZCV X-ray; 2.80 A; A/B/C/D=14-174 # PRINTS PR00926 MITOCARRIER # PRINTS PR00928 GRAVESDC # PROSITE PS00018 EF_HAND_1; 3 # PROSITE PS50222 EF_HAND_2; 4 # PROSITE PS50920 SOLCAR; 3 # Pfam PF00153 Mito_carr; 3 # Pfam PF13499 EF-hand_7; 2 # Proteomes UP000005640 Chromosome 1 # RecName SCMC1_HUMAN Calcium-binding mitochondrial carrier protein SCaMC-1 # RefSeq NP_037518 NM_013386.4. [Q6NUK1-1] # RefSeq NP_998816 NM_213651.2. [Q6NUK1-2] # SEQUENCE CAUTION Sequence=AAF28888.1; Type=Frameshift; Positions=418, 464; Evidence={ECO:0000305}; Sequence=CAI13622.1; Type=Erroneous gene model prediction; Evidence={ECO 0000305}; Sequence=CAI14512.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; # SIMILARITY Belongs to the mitochondrial carrier (TC 2.A.29) family. {ECO 0000305}. # SIMILARITY Contains 3 Solcar repeats. {ECO:0000255|PROSITE- ProRule PRU00282}. # SIMILARITY Contains 4 EF-hand domains. {ECO:0000255|PROSITE- ProRule PRU00448}. # SMART SM00054 EFh; 3 # SUBCELLULAR LOCATION SCMC1_HUMAN Mitochondrion inner membrane {ECO 0000269|PubMed 15054102, ECO 0000269|PubMed 15123600, ECO 0000269|PubMed 22015608}; Multi-pass membrane protein {ECO 0000269|PubMed 15054102, ECO 0000269|PubMed 15123600, ECO 0000269|PubMed 22015608}. # SUPFAM SSF103506 SSF103506 # SUPFAM SSF47473 SSF47473 # TCDB 2.A.29.23 the mitochondrial carrier (mc) family # TISSUE SPECIFICITY SCMC1_HUMAN Present in various cell lines (at protein level). Expressed in all tissues tested. Highly expressed in testis, expressed at intermediate level in small intestine and pancreas, and weakly expressed in kidney, spleen, liver, skeletal muscle and heart. {ECO 0000269|PubMed 15054102, ECO 0000269|PubMed 15123600}. # TopDownProteomics Q6NUK1-1 -. [Q6NUK1-1] # TopDownProteomics Q6NUK1-2 -. [Q6NUK1-2] # UCSC uc001dvm human. [Q6NUK1-1] # eggNOG ENOG410XQ4P LUCA # eggNOG KOG0036 Eukaryota BLAST swissprot:SCMC1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SCMC1_HUMAN COXPRESdb 29957 http://coxpresdb.jp/data/gene/29957.shtml CleanEx HS_SLC25A24 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC25A24 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1016/j.str.2013.10.018 http://dx.doi.org/10.1016/j.str.2013.10.018 DOI 10.1038/cdd.2011.139 http://dx.doi.org/10.1038/cdd.2011.139 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.M400445200 http://dx.doi.org/10.1074/jbc.M400445200 DOI 10.1074/jbc.M401417200 http://dx.doi.org/10.1074/jbc.M401417200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1175371 http://dx.doi.org/10.1126/science.1175371 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AF123303 http://www.ebi.ac.uk/ena/data/view/AF123303 EMBL AJ619961 http://www.ebi.ac.uk/ena/data/view/AJ619961 EMBL AJ619987 http://www.ebi.ac.uk/ena/data/view/AJ619987 EMBL AK292567 http://www.ebi.ac.uk/ena/data/view/AK292567 EMBL AK316304 http://www.ebi.ac.uk/ena/data/view/AK316304 EMBL AL359258 http://www.ebi.ac.uk/ena/data/view/AL359258 EMBL AL359258 http://www.ebi.ac.uk/ena/data/view/AL359258 EMBL AL359258 http://www.ebi.ac.uk/ena/data/view/AL359258 EMBL AL359258 http://www.ebi.ac.uk/ena/data/view/AL359258 EMBL AL390036 http://www.ebi.ac.uk/ena/data/view/AL390036 EMBL AL390036 http://www.ebi.ac.uk/ena/data/view/AL390036 EMBL AL390036 http://www.ebi.ac.uk/ena/data/view/AL390036 EMBL AL390036 http://www.ebi.ac.uk/ena/data/view/AL390036 EMBL BC014519 http://www.ebi.ac.uk/ena/data/view/BC014519 EMBL BC068561 http://www.ebi.ac.uk/ena/data/view/BC068561 EMBL CH471156 http://www.ebi.ac.uk/ena/data/view/CH471156 EMBL CH471156 http://www.ebi.ac.uk/ena/data/view/CH471156 Ensembl ENST00000370041 http://www.ensembl.org/id/ENST00000370041 Ensembl ENST00000565488 http://www.ensembl.org/id/ENST00000565488 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005347 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005347 GO_function GO:0005509 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005509 GO_process GO:0006839 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006839 GO_process GO:0010941 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010941 GO_process GO:0015867 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015867 GO_process GO:0034599 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034599 GO_process GO:0071277 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071277 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 Gene3D 1.10.238.10 http://www.cathdb.info/version/latest/superfamily/1.10.238.10 Gene3D 1.50.40.10 http://www.cathdb.info/version/latest/superfamily/1.50.40.10 GeneCards SLC25A24 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC25A24 GeneID 29957 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=29957 GeneTree ENSGT00760000119245 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119245 H-InvDB HIX0000832 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0000832 H-InvDB HIX0023826 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0023826 HGNC HGNC:20662 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:20662 HOVERGEN HBG108464 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG108464&db=HOVERGEN HPA HPA028519 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA028519 HPA HPA063636 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA063636 InParanoid Q6NUK1 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q6NUK1 IntAct Q6NUK1 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q6NUK1* InterPro IPR002048 http://www.ebi.ac.uk/interpro/entry/IPR002048 InterPro IPR002067 http://www.ebi.ac.uk/interpro/entry/IPR002067 InterPro IPR002167 http://www.ebi.ac.uk/interpro/entry/IPR002167 InterPro IPR011992 http://www.ebi.ac.uk/interpro/entry/IPR011992 InterPro IPR018108 http://www.ebi.ac.uk/interpro/entry/IPR018108 InterPro IPR018247 http://www.ebi.ac.uk/interpro/entry/IPR018247 InterPro IPR023395 http://www.ebi.ac.uk/interpro/entry/IPR023395 Jabion 29957 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=29957 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:29957 http://www.genome.jp/dbget-bin/www_bget?hsa:29957 KEGG_Orthology KO:K14684 http://www.genome.jp/dbget-bin/www_bget?KO:K14684 MIM 608744 http://www.ncbi.nlm.nih.gov/omim/608744 MINT MINT-4905805 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-4905805 OMA TTWLEHY http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=TTWLEHY OrthoDB EOG091G0C8S http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0C8S PDB 4N5X http://www.ebi.ac.uk/pdbe-srv/view/entry/4N5X PDB 4ZCU http://www.ebi.ac.uk/pdbe-srv/view/entry/4ZCU PDB 4ZCV http://www.ebi.ac.uk/pdbe-srv/view/entry/4ZCV PDBsum 4N5X http://www.ebi.ac.uk/pdbsum/4N5X PDBsum 4ZCU http://www.ebi.ac.uk/pdbsum/4ZCU PDBsum 4ZCV http://www.ebi.ac.uk/pdbsum/4ZCV PRINTS PR00926 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00926 PRINTS PR00928 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00928 PROSITE PS00018 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00018 PROSITE PS50222 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50222 PROSITE PS50920 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50920 PSORT swissprot:SCMC1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SCMC1_HUMAN PSORT-B swissprot:SCMC1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SCMC1_HUMAN PSORT2 swissprot:SCMC1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SCMC1_HUMAN Pfam PF00153 http://pfam.xfam.org/family/PF00153 Pfam PF13499 http://pfam.xfam.org/family/PF13499 PharmGKB PA134978257 http://www.pharmgkb.org/do/serve?objId=PA134978257&objCls=Gene Phobius swissprot:SCMC1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SCMC1_HUMAN PhylomeDB Q6NUK1 http://phylomedb.org/?seqid=Q6NUK1 ProteinModelPortal Q6NUK1 http://www.proteinmodelportal.org/query/uniprot/Q6NUK1 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15054102 http://www.ncbi.nlm.nih.gov/pubmed/15054102 PubMed 15123600 http://www.ncbi.nlm.nih.gov/pubmed/15123600 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 19608861 http://www.ncbi.nlm.nih.gov/pubmed/19608861 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 22015608 http://www.ncbi.nlm.nih.gov/pubmed/22015608 PubMed 24332718 http://www.ncbi.nlm.nih.gov/pubmed/24332718 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 RefSeq NP_037518 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_037518 RefSeq NP_998816 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_998816 SMART SM00054 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00054 SMR Q6NUK1 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q6NUK1 STRING 9606.ENSP00000457733 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000457733&targetmode=cogs SUPFAM SSF103506 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103506 SUPFAM SSF47473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF47473 TCDB 2.A.29.23 http://www.tcdb.org/search/result.php?tc=2.A.29.23 UCSC uc001dvm http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001dvm&org=rat UniGene Hs.656870 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.656870 UniProtKB SCMC1_HUMAN http://www.uniprot.org/uniprot/SCMC1_HUMAN UniProtKB-AC Q6NUK1 http://www.uniprot.org/uniprot/Q6NUK1 charge swissprot:SCMC1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SCMC1_HUMAN eggNOG ENOG410XQ4P http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XQ4P eggNOG KOG0036 http://eggnogapi.embl.de/nog_data/html/tree/KOG0036 epestfind swissprot:SCMC1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SCMC1_HUMAN garnier swissprot:SCMC1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SCMC1_HUMAN helixturnhelix swissprot:SCMC1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SCMC1_HUMAN hmoment swissprot:SCMC1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SCMC1_HUMAN iep swissprot:SCMC1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SCMC1_HUMAN inforesidue swissprot:SCMC1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SCMC1_HUMAN neXtProt NX_Q6NUK1 http://www.nextprot.org/db/entry/NX_Q6NUK1 octanol swissprot:SCMC1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SCMC1_HUMAN pepcoil swissprot:SCMC1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SCMC1_HUMAN pepdigest swissprot:SCMC1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SCMC1_HUMAN pepinfo swissprot:SCMC1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SCMC1_HUMAN pepnet swissprot:SCMC1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SCMC1_HUMAN pepstats swissprot:SCMC1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SCMC1_HUMAN pepwheel swissprot:SCMC1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SCMC1_HUMAN pepwindow swissprot:SCMC1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SCMC1_HUMAN sigcleave swissprot:SCMC1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SCMC1_HUMAN ## Database ID URL or Descriptions # AltName ORNT1_HUMAN Solute carrier family 25 member 15 # BioGrid 115468 14 # ChiTaRS SLC25A15 human # DISEASE ORNT1_HUMAN Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) [MIM 238970] Autosomal recessive disorder resulting in various neurologic symptoms, including mental retardation, spastic paraparesis with pyramidal signs, cerebellar ataxia, and episodic disturbance of consciousness or coma caused by hyperammonemia. It causes a functional impairment of the urea cycle. {ECO 0000269|PubMed 10369256, ECO 0000269|PubMed 10805333, ECO 0000269|PubMed 11552031, ECO 0000269|PubMed 11668643, ECO 0000269|PubMed 11814739, ECO 0000269|PubMed 16601889, ECO 0000269|PubMed 19242930}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DrugBank DB00129 L-Ornithine # Ensembl ENST00000338625 ENSP00000342267; ENSG00000102743 # ExpressionAtlas Q9Y619 baseline and differential # FUNCTION ORNT1_HUMAN Ornithine transport across inner mitochondrial membrane, from the cytoplasm to the matrix. # GO_component GO:0005743 mitochondrial inner membrane; TAS:Reactome. # GO_component GO:0016021 integral component of membrane; TAS:ProtInc. # GO_function GO:0000064 L-ornithine transmembrane transporter activity; EXP:Reactome. # GO_process GO:0000050 urea cycle; TAS:Reactome. # GO_process GO:0000066 mitochondrial ornithine transport; TAS:ProtInc. # GO_process GO:0006520 cellular amino acid metabolic process; TAS:ProtInc. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006520 cellular amino acid metabolic process # GOslim_process GO:0006810 transport # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0044281 small molecule metabolic process # GOslim_process GO:0071941 nitrogen cycle metabolic process # Gene3D 1.50.40.10 -; 1. # Genevisible Q9Y619 HS # HGNC HGNC:10985 SLC25A15 # InterPro IPR018108 Mitochondrial_sb/sol_carrier # InterPro IPR023395 Mt_carrier_dom # KEGG_Brite ko02001 Solute carrier family # KEGG_Disease H01268 [Inherited metabolic disease] HHH syndrome # KEGG_Disease H01398:[Inherited metabolic disease] Citrullinemia type II [DS H00185] # MIM 238970 phenotype # MIM 603861 gene # Organism ORNT1_HUMAN Homo sapiens (Human) # Orphanet 415 Hyperornithinemia-hyperammonemia-homocitrullinuria # PROSITE PS50920 SOLCAR; 3 # Pfam PF00153 Mito_carr; 3 # Proteomes UP000005640 Chromosome 13 # Reactome R-HSA-70635 Urea cycle # RecName ORNT1_HUMAN Mitochondrial ornithine transporter 1 # RefSeq NP_055067 NM_014252.3 # SIMILARITY Belongs to the mitochondrial carrier (TC 2.A.29) family. {ECO 0000305}. # SIMILARITY Contains 3 Solcar repeats. {ECO:0000255|PROSITE- ProRule PRU00282}. # SUBCELLULAR LOCATION ORNT1_HUMAN Mitochondrion inner membrane; Multi-pass membrane protein. # SUPFAM SSF103506 SSF103506 # TCDB 2.A.29.19 the mitochondrial carrier (mc) family # UCSC uc001uxn human # eggNOG ENOG410XNVH LUCA # eggNOG KOG0763 Eukaryota BLAST swissprot:ORNT1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ORNT1_HUMAN BioCyc ZFISH:ENSG00000102743-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000102743-MONOMER COXPRESdb 10166 http://coxpresdb.jp/data/gene/10166.shtml CleanEx HS_SLC25A15 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC25A15 DOI 10.1002/1531-8249(200005)47:5<625::AID-ANA10>3.3.CO http://dx.doi.org/10.1002/1531-8249(200005)47:5<625::AID-ANA10>3.3.CO DOI 10.1002/humu.1221 http://dx.doi.org/10.1002/humu.1221 DOI 10.1002/humu.20930 http://dx.doi.org/10.1002/humu.20930 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1007/s10545-006-0120-7 http://dx.doi.org/10.1007/s10545-006-0120-7 DOI 10.1016/S0887-8994(01)00335-6 http://dx.doi.org/10.1016/S0887-8994(01)00335-6 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1038/9658 http://dx.doi.org/10.1038/9658 DOI 10.1038/nature02379 http://dx.doi.org/10.1038/nature02379 DOI 10.1073/pnas.0404089101 http://dx.doi.org/10.1073/pnas.0404089101 DOI 10.1074/jbc.M302317200 http://dx.doi.org/10.1074/jbc.M302317200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1212/WNL.57.5.911 http://dx.doi.org/10.1212/WNL.57.5.911 DrugBank DB00129 http://www.drugbank.ca/drugs/DB00129 EMBL AF112968 http://www.ebi.ac.uk/ena/data/view/AF112968 EMBL AF177333 http://www.ebi.ac.uk/ena/data/view/AF177333 EMBL AJ309943 http://www.ebi.ac.uk/ena/data/view/AJ309943 EMBL AL161614 http://www.ebi.ac.uk/ena/data/view/AL161614 EMBL BC002702 http://www.ebi.ac.uk/ena/data/view/BC002702 EMBL CH471075 http://www.ebi.ac.uk/ena/data/view/CH471075 Ensembl ENST00000338625 http://www.ensembl.org/id/ENST00000338625 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0000064 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000064 GO_process GO:0000050 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000050 GO_process GO:0000066 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000066 GO_process GO:0006520 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006520 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006520 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006520 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GOslim_process GO:0071941 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071941 Gene3D 1.50.40.10 http://www.cathdb.info/version/latest/superfamily/1.50.40.10 GeneCards SLC25A15 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC25A15 GeneID 10166 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=10166 GeneTree ENSGT00730000110966 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00730000110966 H-InvDB HIX0011260 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0011260 HGNC HGNC:10985 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10985 HOGENOM HOG000168307 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000168307&db=HOGENOM6 HOVERGEN HBG062630 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG062630&db=HOVERGEN HPA HPA042146 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA042146 InParanoid Q9Y619 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9Y619 InterPro IPR018108 http://www.ebi.ac.uk/interpro/entry/IPR018108 InterPro IPR023395 http://www.ebi.ac.uk/interpro/entry/IPR023395 Jabion 10166 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=10166 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Disease H01268 http://www.genome.jp/dbget-bin/www_bget?H01268 KEGG_Disease H01398 http://www.genome.jp/dbget-bin/www_bget?H01398 KEGG_Gene hsa:10166 http://www.genome.jp/dbget-bin/www_bget?hsa:10166 KEGG_Orthology KO:K15101 http://www.genome.jp/dbget-bin/www_bget?KO:K15101 MIM 238970 http://www.ncbi.nlm.nih.gov/omim/238970 MIM 603861 http://www.ncbi.nlm.nih.gov/omim/603861 OMA DMYKGIV http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=DMYKGIV Orphanet 415 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=415 OrthoDB EOG091G0HVE http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0HVE PROSITE PS50920 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50920 PSORT swissprot:ORNT1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ORNT1_HUMAN PSORT-B swissprot:ORNT1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ORNT1_HUMAN PSORT2 swissprot:ORNT1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ORNT1_HUMAN Pfam PF00153 http://pfam.xfam.org/family/PF00153 PharmGKB PA35861 http://www.pharmgkb.org/do/serve?objId=PA35861&objCls=Gene Phobius swissprot:ORNT1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ORNT1_HUMAN PhylomeDB Q9Y619 http://phylomedb.org/?seqid=Q9Y619 ProteinModelPortal Q9Y619 http://www.proteinmodelportal.org/query/uniprot/Q9Y619 PubMed 10369256 http://www.ncbi.nlm.nih.gov/pubmed/10369256 PubMed 10805333 http://www.ncbi.nlm.nih.gov/pubmed/10805333 PubMed 11552031 http://www.ncbi.nlm.nih.gov/pubmed/11552031 PubMed 11668643 http://www.ncbi.nlm.nih.gov/pubmed/11668643 PubMed 11814739 http://www.ncbi.nlm.nih.gov/pubmed/11814739 PubMed 12807890 http://www.ncbi.nlm.nih.gov/pubmed/12807890 PubMed 15057823 http://www.ncbi.nlm.nih.gov/pubmed/15057823 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15498874 http://www.ncbi.nlm.nih.gov/pubmed/15498874 PubMed 16601889 http://www.ncbi.nlm.nih.gov/pubmed/16601889 PubMed 19242930 http://www.ncbi.nlm.nih.gov/pubmed/19242930 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 Reactome R-HSA-70635 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-70635 RefSeq NP_055067 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_055067 STRING 9606.ENSP00000342267 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000342267&targetmode=cogs SUPFAM SSF103506 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103506 TCDB 2.A.29.19 http://www.tcdb.org/search/result.php?tc=2.A.29.19 UCSC uc001uxn http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001uxn&org=rat UniGene Hs.646645 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.646645 UniProtKB ORNT1_HUMAN http://www.uniprot.org/uniprot/ORNT1_HUMAN UniProtKB-AC Q9Y619 http://www.uniprot.org/uniprot/Q9Y619 charge swissprot:ORNT1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ORNT1_HUMAN eggNOG ENOG410XNVH http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XNVH eggNOG KOG0763 http://eggnogapi.embl.de/nog_data/html/tree/KOG0763 epestfind swissprot:ORNT1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ORNT1_HUMAN garnier swissprot:ORNT1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ORNT1_HUMAN helixturnhelix swissprot:ORNT1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ORNT1_HUMAN hmoment swissprot:ORNT1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ORNT1_HUMAN iep swissprot:ORNT1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ORNT1_HUMAN inforesidue swissprot:ORNT1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ORNT1_HUMAN neXtProt NX_Q9Y619 http://www.nextprot.org/db/entry/NX_Q9Y619 octanol swissprot:ORNT1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ORNT1_HUMAN pepcoil swissprot:ORNT1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ORNT1_HUMAN pepdigest swissprot:ORNT1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ORNT1_HUMAN pepinfo swissprot:ORNT1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ORNT1_HUMAN pepnet swissprot:ORNT1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ORNT1_HUMAN pepstats swissprot:ORNT1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ORNT1_HUMAN pepwheel swissprot:ORNT1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ORNT1_HUMAN pepwindow swissprot:ORNT1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ORNT1_HUMAN sigcleave swissprot:ORNT1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ORNT1_HUMAN ## Database ID URL or Descriptions # AltName TRFE_HUMAN Beta-1 metal-binding globulin # AltName TRFE_HUMAN Siderophilin # BioGrid 112876 38 # ChiTaRS TF human # DISEASE TRFE_HUMAN Atransferrinemia (ATRAF) [MIM 209300] A rare autosomal recessive disorder characterized by abnormal synthesis of transferrin leading to iron overload and microcytic hypochromic anemia. {ECO 0000269|PubMed 11110675, ECO 0000269|PubMed 15466165}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DrugBank DB00893 Iron Dextran # DrugBank DB01294 Bismuth Subsalicylate # DrugBank DB01370 Aluminium # DrugBank DB05260 Gallium nitrate # Ensembl ENST00000402696 ENSP00000385834; ENSG00000091513 # ExpressionAtlas P02787 baseline and differential # FUNCTION TRFE_HUMAN Transferrins are iron binding transport proteins which can bind two Fe(3+) ions in association with the binding of an anion, usually bicarbonate. It is responsible for the transport of iron from sites of absorption and heme degradation to those of storage and utilization. Serum transferrin may also have a further role in stimulating cell proliferation. # GO_component GO:0005576 extracellular region; NAS:UniProtKB. # GO_component GO:0005615 extracellular space; IDA:UniProtKB. # GO_component GO:0005769 early endosome; IDA:UniProtKB. # GO_component GO:0005770 late endosome; IDA:UniProtKB. # GO_component GO:0005905 clathrin-coated pit; IDA:UniProtKB. # GO_component GO:0009925 basal plasma membrane; IDA:UniProtKB. # GO_component GO:0009986 cell surface; IDA:UniProtKB. # GO_component GO:0010008 endosome membrane; TAS:Reactome. # GO_component GO:0016023 cytoplasmic, membrane-bounded vesicle; IDA:UniProtKB. # GO_component GO:0016324 apical plasma membrane; IDA:UniProtKB. # GO_component GO:0030139 endocytic vesicle; IDA:MGI. # GO_component GO:0031232 extrinsic component of external side of plasma membrane; IGI:BHF-UCL. # GO_component GO:0031982 vesicle; IDA:UniProtKB. # GO_component GO:0034774 secretory granule lumen; TAS:Reactome. # GO_component GO:0045178 basal part of cell; IDA:UniProtKB. # GO_component GO:0048471 perinuclear region of cytoplasm; IDA:UniProtKB. # GO_component GO:0055037 recycling endosome; IDA:UniProtKB. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_component GO:0072562 blood microparticle; IDA:UniProtKB. # GO_component GO:1990712 HFE-transferrin receptor complex; IDA:BHF-UCL. # GO_function GO:0008198 ferrous iron binding; IDA:BHF-UCL. # GO_function GO:0008199 ferric iron binding; IEA:InterPro. # GO_function GO:0015091 ferric iron transmembrane transporter activity; IEA:InterPro. # GO_function GO:1990459 transferrin receptor binding; IPI:BHF-UCL. # GO_process GO:0001895 retina homeostasis; IEP:UniProtKB. # GO_process GO:0002576 platelet degranulation; TAS:Reactome. # GO_process GO:0006879 cellular iron ion homeostasis; TAS:Reactome. # GO_process GO:0031647 regulation of protein stability; TAS:BHF-UCL. # GO_process GO:0033572 transferrin transport; TAS:Reactome. # GO_process GO:0048260 positive regulation of receptor-mediated endocytosis; IDA:BHF-UCL. # GO_process GO:0055072 iron ion homeostasis; IC:BHF-UCL. # GO_process GO:0071281 cellular response to iron ion; IGI:BHF-UCL. # GO_process GO:0097460 ferrous iron import into cell; IGI:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005576 extracellular region # GOslim_component GO:0005615 extracellular space # GOslim_component GO:0005768 endosome # GOslim_component GO:0031410 cytoplasmic vesicle # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0016192 vesicle-mediated transport # GOslim_process GO:0042592 homeostatic process # Genevisible P02787 HS # HGNC HGNC:11740 TF # INTERACTION TRFE_HUMAN P01350 GAST; NbExp=5; IntAct=EBI-714319, EBI-3436637; # IntAct P02787 33 # InterPro IPR001156 Transferrin-like_dom # InterPro IPR016357 Transferrin # InterPro IPR018195 Transferrin_Fe_BS # InterPro IPR030685 Serotransferrin_mammal # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Disease H01145 [Inherited metabolic disease; Hematologic disease] Congenital hypotransferrinemia # KEGG_Pathway ko04066 HIF-1 signaling pathway # KEGG_Pathway ko04978 Mineral absorption # MIM 190000 gene # MIM 209300 phenotype # Organism TRFE_HUMAN Homo sapiens (Human) # Orphanet 1195 Congenital atransferrinemia # PDB 1A8E X-ray; 1.60 A; A=22-350 # PDB 1A8F X-ray; 1.80 A; A=22-350 # PDB 1B3E X-ray; 2.50 A; A=23-352 # PDB 1BP5 X-ray; 2.20 A; A/B/C/D=20-356 # PDB 1BTJ X-ray; 3.20 A; A/B=20-356 # PDB 1D3K X-ray; 1.80 A; A=22-350 # PDB 1D4N X-ray; 2.00 A; A=22-350 # PDB 1DTG X-ray; 2.40 A; A=20-353 # PDB 1FQE X-ray; 1.80 A; A=20-350 # PDB 1FQF X-ray; 2.10 A; A=20-350 # PDB 1JQF X-ray; 1.85 A; A=20-353 # PDB 1N7W X-ray; 2.20 A; A=22-350 # PDB 1N7X X-ray; 2.10 A; A=20-350 # PDB 1N84 X-ray; 2.05 A; A=20-350 # PDB 1OQG X-ray; 1.90 A; A=20-354 # PDB 1OQH X-ray; 2.40 A; A=20-354 # PDB 1RYO X-ray; 1.20 A; A=20-346 # PDB 1SUV EM; 7.50 A; C/D=22-350 # PDB 2HAU X-ray; 2.70 A; A/B=23-698 # PDB 2HAV X-ray; 2.70 A; A/B=23-698 # PDB 2O7U X-ray; 2.80 A; A/B/C/D/E/F/G/H/I=20-356 # PDB 2O84 X-ray; 2.60 A; X=20-356 # PDB 3FGS X-ray; 1.80 A; A=20-356 # PDB 3QYT X-ray; 2.80 A; A=20-698 # PDB 3S9L X-ray; 3.22 A; C/D=20-698 # PDB 3S9M X-ray; 3.32 A; C/D=20-698 # PDB 3S9N X-ray; 3.25 A; C/D=20-698 # PDB 3SKP X-ray; 1.70 A; A=358-698 # PDB 3V83 X-ray; 2.10 A; A/B/C/D/E/F=1-698 # PDB 3V89 X-ray; 3.10 A; B=356-698 # PDB 3V8X X-ray; 2.60 A; B=1-698 # PDB 3VE1 X-ray; 2.96 A; B/D=20-698 # PDB 4H0W X-ray; 2.40 A; A=20-698 # PDB 4X1B X-ray; 2.45 A; A=20-698 # PDB 4X1D X-ray; 2.80 A; A/B=20-698 # PDB 5DYH X-ray; 2.68 A; A/B=1-698 # PIR A20981 TFHUP # PIRSF PIRSF002549 Transferrin # PIRSF PIRSF500682 Serotransferrin # POLYMORPHISM TRFE_HUMAN Different polymorphic variants of transferrin are known. The sequence shown is the predominant electrophoretic variant (C1 or TF*C1). # PRINTS PR00422 TRANSFERRIN # PROSITE PS00205 TRANSFERRIN_LIKE_1 # PROSITE PS00206 TRANSFERRIN_LIKE_2; 2 # PROSITE PS00207 TRANSFERRIN_LIKE_3; 2 # PROSITE PS51408 TRANSFERRIN_LIKE_4; 2 # Pfam PF00405 Transferrin; 2 # Proteomes UP000005640 Chromosome 3 # Reactome R-HSA-114608 Platelet degranulation # Reactome R-HSA-8856825 Cargo recognition for clathrin-mediated endocytosis # Reactome R-HSA-8856828 Clathrin-mediated endocytosis # Reactome R-HSA-917937 Iron uptake and transport # Reactome R-HSA-917977 Transferrin endocytosis and recycling # RecName TRFE_HUMAN Serotransferrin # RefSeq NP_001054 NM_001063.3 # RefSeq XP_016862578 XM_017007089.1 # RefSeq XP_016862579 XM_017007090.1 # SEQUENCE CAUTION Sequence=AAF22007.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the transferrin family. {ECO:0000255|PROSITE-ProRule PRU00741}. # SIMILARITY Contains 2 transferrin-like domains. {ECO:0000255|PROSITE-ProRule PRU00741}. # SMART SM00094 TR_FER; 2 # SUBCELLULAR LOCATION TRFE_HUMAN Secreted. # SUBUNIT TRFE_HUMAN Monomer. # TISSUE SPECIFICITY TRFE_HUMAN Expressed by the liver and secreted in plasma. # UCSC uc003epv human # WEB RESOURCE TRFE_HUMAN Name=SeattleSNPs; URL="http //pga.gs.washington.edu/data/tf/"; # WEB RESOURCE TRFE_HUMAN Name=Wikipedia; Note=Transferrin entry; URL="https //en.wikipedia.org/wiki/Transferrin"; # eggNOG ENOG410IEAI Eukaryota # eggNOG ENOG410XQ36 LUCA BLAST swissprot:TRFE_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:TRFE_HUMAN BioCyc ZFISH:ENSG00000091513-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000091513-MONOMER COXPRESdb 7018 http://coxpresdb.jp/data/gene/7018.shtml CleanEx HS_TF http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_TF DIP DIP-2738N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-2738N DOI 10.1002/1097-4547(20000815)61:4<388::AID-JNR5>3.0.CO http://dx.doi.org/10.1002/1097-4547(20000815)61:4<388::AID-JNR5>3.0.CO DOI 10.1002/elps.11501601192 http://dx.doi.org/10.1002/elps.11501601192 DOI 10.1002/pmic.200300556 http://dx.doi.org/10.1002/pmic.200300556 DOI 10.1002/rcm.1718 http://dx.doi.org/10.1002/rcm.1718 DOI 10.1007/s004390050533 http://dx.doi.org/10.1007/s004390050533 DOI 10.1007/s004390100599 http://dx.doi.org/10.1007/s004390100599 DOI 10.1016/0006-291X(84)91648-6 http://dx.doi.org/10.1016/0006-291X(84)91648-6 DOI 10.1016/0378-1119(86)90277-5 http://dx.doi.org/10.1016/0378-1119(86)90277-5 DOI 10.1016/0378-1119(87)90163-6 http://dx.doi.org/10.1016/0378-1119(87)90163-6 DOI 10.1016/S0378-1119(97)00356-9 http://dx.doi.org/10.1016/S0378-1119(97)00356-9 DOI 10.1016/j.cell.2015.05.028 http://dx.doi.org/10.1016/j.cell.2015.05.028 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/bi00109a002 http://dx.doi.org/10.1021/bi00109a002 DOI 10.1021/bi980355j http://dx.doi.org/10.1021/bi980355j DOI 10.1021/bi9812064 http://dx.doi.org/10.1021/bi9812064 DOI 10.1021/bi9824543 http://dx.doi.org/10.1021/bi9824543 DOI 10.1021/pr0502065 http://dx.doi.org/10.1021/pr0502065 DOI 10.1021/pr050492k http://dx.doi.org/10.1021/pr050492k DOI 10.1021/pr300539b http://dx.doi.org/10.1021/pr300539b DOI 10.1021/pr8008012 http://dx.doi.org/10.1021/pr8008012 DOI 10.1038/nature04728 http://dx.doi.org/10.1038/nature04728 DOI 10.1038/nmeth.1392 http://dx.doi.org/10.1038/nmeth.1392 DOI 10.1046/j.1365-2141.2001.03096.x http://dx.doi.org/10.1046/j.1365-2141.2001.03096.x DOI 10.1046/j.1469-1809.1998.6230271.x http://dx.doi.org/10.1046/j.1469-1809.1998.6230271.x DOI 10.1073/pnas.79.8.2504 http://dx.doi.org/10.1073/pnas.79.8.2504 DOI 10.1073/pnas.81.9.2752 http://dx.doi.org/10.1073/pnas.81.9.2752 DOI 10.1073/pnas.82.10.3149 http://dx.doi.org/10.1073/pnas.82.10.3149 DOI 10.1073/pnas.86.18.7260 http://dx.doi.org/10.1073/pnas.86.18.7260 DOI 10.1074/mcp.M400015-MCP200 http://dx.doi.org/10.1074/mcp.M400015-MCP200 DOI 10.1074/mcp.M800504-MCP200 http://dx.doi.org/10.1074/mcp.M800504-MCP200 DOI 10.1093/nar/14.21.8692 http://dx.doi.org/10.1093/nar/14.21.8692 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1749-6632.1991.tb18573.x http://dx.doi.org/10.1111/j.1749-6632.1991.tb18573.x DOI 10.1182/blood-2004-05-1751 http://dx.doi.org/10.1182/blood-2004-05-1751 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DrugBank DB00893 http://www.drugbank.ca/drugs/DB00893 DrugBank DB01294 http://www.drugbank.ca/drugs/DB01294 DrugBank DB01370 http://www.drugbank.ca/drugs/DB01370 DrugBank DB05260 http://www.drugbank.ca/drugs/DB05260 EMBL AC080128 http://www.ebi.ac.uk/ena/data/view/AC080128 EMBL AC083905 http://www.ebi.ac.uk/ena/data/view/AC083905 EMBL AF058327 http://www.ebi.ac.uk/ena/data/view/AF058327 EMBL AF118063 http://www.ebi.ac.uk/ena/data/view/AF118063 EMBL AF288139 http://www.ebi.ac.uk/ena/data/view/AF288139 EMBL AF288140 http://www.ebi.ac.uk/ena/data/view/AF288140 EMBL AF288141 http://www.ebi.ac.uk/ena/data/view/AF288141 EMBL AF288142 http://www.ebi.ac.uk/ena/data/view/AF288142 EMBL AF288143 http://www.ebi.ac.uk/ena/data/view/AF288143 EMBL AF288144 http://www.ebi.ac.uk/ena/data/view/AF288144 EMBL AF294270 http://www.ebi.ac.uk/ena/data/view/AF294270 EMBL AF294271 http://www.ebi.ac.uk/ena/data/view/AF294271 EMBL AJ252279 http://www.ebi.ac.uk/ena/data/view/AJ252279 EMBL AY308797 http://www.ebi.ac.uk/ena/data/view/AY308797 EMBL BC059367 http://www.ebi.ac.uk/ena/data/view/BC059367 EMBL CH471052 http://www.ebi.ac.uk/ena/data/view/CH471052 EMBL DQ525716 http://www.ebi.ac.uk/ena/data/view/DQ525716 EMBL M11361 http://www.ebi.ac.uk/ena/data/view/M11361 EMBL M11362 http://www.ebi.ac.uk/ena/data/view/M11362 EMBL M11363 http://www.ebi.ac.uk/ena/data/view/M11363 EMBL M11364 http://www.ebi.ac.uk/ena/data/view/M11364 EMBL M11365 http://www.ebi.ac.uk/ena/data/view/M11365 EMBL M11366 http://www.ebi.ac.uk/ena/data/view/M11366 EMBL M11367 http://www.ebi.ac.uk/ena/data/view/M11367 EMBL M11368 http://www.ebi.ac.uk/ena/data/view/M11368 EMBL M11369 http://www.ebi.ac.uk/ena/data/view/M11369 EMBL M11370 http://www.ebi.ac.uk/ena/data/view/M11370 EMBL M11371 http://www.ebi.ac.uk/ena/data/view/M11371 EMBL M11372 http://www.ebi.ac.uk/ena/data/view/M11372 EMBL M12525 http://www.ebi.ac.uk/ena/data/view/M12525 EMBL M12530 http://www.ebi.ac.uk/ena/data/view/M12530 EMBL M15673 http://www.ebi.ac.uk/ena/data/view/M15673 EMBL M17610 http://www.ebi.ac.uk/ena/data/view/M17610 EMBL M17611 http://www.ebi.ac.uk/ena/data/view/M17611 EMBL M17612 http://www.ebi.ac.uk/ena/data/view/M17612 EMBL M17613 http://www.ebi.ac.uk/ena/data/view/M17613 EMBL M17614 http://www.ebi.ac.uk/ena/data/view/M17614 EMBL M21569 http://www.ebi.ac.uk/ena/data/view/M21569 EMBL M21570 http://www.ebi.ac.uk/ena/data/view/M21570 EMBL M26641 http://www.ebi.ac.uk/ena/data/view/M26641 EMBL S95936 http://www.ebi.ac.uk/ena/data/view/S95936 EMBL U88581 http://www.ebi.ac.uk/ena/data/view/U88581 EMBL X04600 http://www.ebi.ac.uk/ena/data/view/X04600 Ensembl ENST00000402696 http://www.ensembl.org/id/ENST00000402696 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005576 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005576 GO_component GO:0005615 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005615 GO_component GO:0005769 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005769 GO_component GO:0005770 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005770 GO_component GO:0005905 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005905 GO_component GO:0009925 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009925 GO_component GO:0009986 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009986 GO_component GO:0010008 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010008 GO_component GO:0016023 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016023 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:0030139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030139 GO_component GO:0031232 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031232 GO_component GO:0031982 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031982 GO_component GO:0034774 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034774 GO_component GO:0045178 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045178 GO_component GO:0048471 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048471 GO_component GO:0055037 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055037 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_component GO:0072562 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0072562 GO_component GO:1990712 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1990712 GO_function GO:0008198 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008198 GO_function GO:0008199 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008199 GO_function GO:0015091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015091 GO_function GO:1990459 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1990459 GO_process GO:0001895 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001895 GO_process GO:0002576 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002576 GO_process GO:0006879 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006879 GO_process GO:0031647 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031647 GO_process GO:0033572 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033572 GO_process GO:0048260 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048260 GO_process GO:0055072 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055072 GO_process GO:0071281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071281 GO_process GO:0097460 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097460 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005576 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005576 GOslim_component GO:0005615 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005615 GOslim_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GOslim_component GO:0031410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0016192 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016192 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GeneCards TF http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=TF GeneID 7018 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=7018 GeneTree ENSGT00390000001619 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000001619 HGNC HGNC:11740 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11740 HOGENOM HOG000252723 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000252723&db=HOGENOM6 HOVERGEN HBG000055 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG000055&db=HOVERGEN HPA CAB009538 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB009538 HPA HPA001527 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA001527 HPA HPA005692 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA005692 InParanoid P02787 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P02787 IntAct P02787 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P02787* InterPro IPR001156 http://www.ebi.ac.uk/interpro/entry/IPR001156 InterPro IPR016357 http://www.ebi.ac.uk/interpro/entry/IPR016357 InterPro IPR018195 http://www.ebi.ac.uk/interpro/entry/IPR018195 InterPro IPR030685 http://www.ebi.ac.uk/interpro/entry/IPR030685 Jabion 7018 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=7018 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Disease H01145 http://www.genome.jp/dbget-bin/www_bget?H01145 KEGG_Gene hsa:7018 http://www.genome.jp/dbget-bin/www_bget?hsa:7018 KEGG_Orthology KO:K14736 http://www.genome.jp/dbget-bin/www_bget?KO:K14736 KEGG_Pathway ko04066 http://www.genome.jp/kegg-bin/show_pathway?ko04066 KEGG_Pathway ko04978 http://www.genome.jp/kegg-bin/show_pathway?ko04978 MIM 190000 http://www.ncbi.nlm.nih.gov/omim/190000 MIM 209300 http://www.ncbi.nlm.nih.gov/omim/209300 MINT MINT-1400694 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1400694 OMA IGLLYCD http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=IGLLYCD Orphanet 1195 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1195 OrthoDB EOG091G0242 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0242 PDB 1A8E http://www.ebi.ac.uk/pdbe-srv/view/entry/1A8E PDB 1A8F http://www.ebi.ac.uk/pdbe-srv/view/entry/1A8F PDB 1B3E http://www.ebi.ac.uk/pdbe-srv/view/entry/1B3E PDB 1BP5 http://www.ebi.ac.uk/pdbe-srv/view/entry/1BP5 PDB 1BTJ http://www.ebi.ac.uk/pdbe-srv/view/entry/1BTJ PDB 1D3K http://www.ebi.ac.uk/pdbe-srv/view/entry/1D3K PDB 1D4N http://www.ebi.ac.uk/pdbe-srv/view/entry/1D4N PDB 1DTG http://www.ebi.ac.uk/pdbe-srv/view/entry/1DTG PDB 1FQE http://www.ebi.ac.uk/pdbe-srv/view/entry/1FQE PDB 1FQF http://www.ebi.ac.uk/pdbe-srv/view/entry/1FQF PDB 1JQF http://www.ebi.ac.uk/pdbe-srv/view/entry/1JQF PDB 1N7W http://www.ebi.ac.uk/pdbe-srv/view/entry/1N7W PDB 1N7X http://www.ebi.ac.uk/pdbe-srv/view/entry/1N7X PDB 1N84 http://www.ebi.ac.uk/pdbe-srv/view/entry/1N84 PDB 1OQG http://www.ebi.ac.uk/pdbe-srv/view/entry/1OQG PDB 1OQH http://www.ebi.ac.uk/pdbe-srv/view/entry/1OQH PDB 1RYO http://www.ebi.ac.uk/pdbe-srv/view/entry/1RYO PDB 1SUV http://www.ebi.ac.uk/pdbe-srv/view/entry/1SUV PDB 2HAU http://www.ebi.ac.uk/pdbe-srv/view/entry/2HAU PDB 2HAV http://www.ebi.ac.uk/pdbe-srv/view/entry/2HAV PDB 2O7U http://www.ebi.ac.uk/pdbe-srv/view/entry/2O7U PDB 2O84 http://www.ebi.ac.uk/pdbe-srv/view/entry/2O84 PDB 3FGS http://www.ebi.ac.uk/pdbe-srv/view/entry/3FGS PDB 3QYT http://www.ebi.ac.uk/pdbe-srv/view/entry/3QYT PDB 3S9L http://www.ebi.ac.uk/pdbe-srv/view/entry/3S9L PDB 3S9M http://www.ebi.ac.uk/pdbe-srv/view/entry/3S9M PDB 3S9N http://www.ebi.ac.uk/pdbe-srv/view/entry/3S9N PDB 3SKP http://www.ebi.ac.uk/pdbe-srv/view/entry/3SKP PDB 3V83 http://www.ebi.ac.uk/pdbe-srv/view/entry/3V83 PDB 3V89 http://www.ebi.ac.uk/pdbe-srv/view/entry/3V89 PDB 3V8X http://www.ebi.ac.uk/pdbe-srv/view/entry/3V8X PDB 3VE1 http://www.ebi.ac.uk/pdbe-srv/view/entry/3VE1 PDB 4H0W http://www.ebi.ac.uk/pdbe-srv/view/entry/4H0W PDB 4X1B http://www.ebi.ac.uk/pdbe-srv/view/entry/4X1B PDB 4X1D http://www.ebi.ac.uk/pdbe-srv/view/entry/4X1D PDB 5DYH http://www.ebi.ac.uk/pdbe-srv/view/entry/5DYH PDBsum 1A8E http://www.ebi.ac.uk/pdbsum/1A8E PDBsum 1A8F http://www.ebi.ac.uk/pdbsum/1A8F PDBsum 1B3E http://www.ebi.ac.uk/pdbsum/1B3E PDBsum 1BP5 http://www.ebi.ac.uk/pdbsum/1BP5 PDBsum 1BTJ http://www.ebi.ac.uk/pdbsum/1BTJ PDBsum 1D3K http://www.ebi.ac.uk/pdbsum/1D3K PDBsum 1D4N http://www.ebi.ac.uk/pdbsum/1D4N PDBsum 1DTG http://www.ebi.ac.uk/pdbsum/1DTG PDBsum 1FQE http://www.ebi.ac.uk/pdbsum/1FQE PDBsum 1FQF http://www.ebi.ac.uk/pdbsum/1FQF PDBsum 1JQF http://www.ebi.ac.uk/pdbsum/1JQF PDBsum 1N7W http://www.ebi.ac.uk/pdbsum/1N7W PDBsum 1N7X http://www.ebi.ac.uk/pdbsum/1N7X PDBsum 1N84 http://www.ebi.ac.uk/pdbsum/1N84 PDBsum 1OQG http://www.ebi.ac.uk/pdbsum/1OQG PDBsum 1OQH http://www.ebi.ac.uk/pdbsum/1OQH PDBsum 1RYO http://www.ebi.ac.uk/pdbsum/1RYO PDBsum 1SUV http://www.ebi.ac.uk/pdbsum/1SUV PDBsum 2HAU http://www.ebi.ac.uk/pdbsum/2HAU PDBsum 2HAV http://www.ebi.ac.uk/pdbsum/2HAV PDBsum 2O7U http://www.ebi.ac.uk/pdbsum/2O7U PDBsum 2O84 http://www.ebi.ac.uk/pdbsum/2O84 PDBsum 3FGS http://www.ebi.ac.uk/pdbsum/3FGS PDBsum 3QYT http://www.ebi.ac.uk/pdbsum/3QYT PDBsum 3S9L http://www.ebi.ac.uk/pdbsum/3S9L PDBsum 3S9M http://www.ebi.ac.uk/pdbsum/3S9M PDBsum 3S9N http://www.ebi.ac.uk/pdbsum/3S9N PDBsum 3SKP http://www.ebi.ac.uk/pdbsum/3SKP PDBsum 3V83 http://www.ebi.ac.uk/pdbsum/3V83 PDBsum 3V89 http://www.ebi.ac.uk/pdbsum/3V89 PDBsum 3V8X http://www.ebi.ac.uk/pdbsum/3V8X PDBsum 3VE1 http://www.ebi.ac.uk/pdbsum/3VE1 PDBsum 4H0W http://www.ebi.ac.uk/pdbsum/4H0W PDBsum 4X1B http://www.ebi.ac.uk/pdbsum/4X1B PDBsum 4X1D http://www.ebi.ac.uk/pdbsum/4X1D PDBsum 5DYH http://www.ebi.ac.uk/pdbsum/5DYH PRINTS PR00422 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00422 PROSITE PS00205 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00205 PROSITE PS00206 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00206 PROSITE PS00207 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00207 PROSITE PS51408 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51408 PSORT swissprot:TRFE_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:TRFE_HUMAN PSORT-B swissprot:TRFE_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:TRFE_HUMAN PSORT2 swissprot:TRFE_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:TRFE_HUMAN Pfam PF00405 http://pfam.xfam.org/family/PF00405 PharmGKB PA36457 http://www.pharmgkb.org/do/serve?objId=PA36457&objCls=Gene Phobius swissprot:TRFE_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:TRFE_HUMAN PhylomeDB P02787 http://phylomedb.org/?seqid=P02787 ProteinModelPortal P02787 http://www.proteinmodelportal.org/query/uniprot/P02787 PubMed 10029548 http://www.ncbi.nlm.nih.gov/pubmed/10029548 PubMed 10931525 http://www.ncbi.nlm.nih.gov/pubmed/10931525 PubMed 11110675 http://www.ncbi.nlm.nih.gov/pubmed/11110675 PubMed 11702220 http://www.ncbi.nlm.nih.gov/pubmed/11702220 PubMed 11703331 http://www.ncbi.nlm.nih.gov/pubmed/11703331 PubMed 14760718 http://www.ncbi.nlm.nih.gov/pubmed/14760718 PubMed 15084671 http://www.ncbi.nlm.nih.gov/pubmed/15084671 PubMed 15466165 http://www.ncbi.nlm.nih.gov/pubmed/15466165 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15536627 http://www.ncbi.nlm.nih.gov/pubmed/15536627 PubMed 16335952 http://www.ncbi.nlm.nih.gov/pubmed/16335952 PubMed 16641997 http://www.ncbi.nlm.nih.gov/pubmed/16641997 PubMed 16740002 http://www.ncbi.nlm.nih.gov/pubmed/16740002 PubMed 1809186 http://www.ncbi.nlm.nih.gov/pubmed/1809186 PubMed 19139490 http://www.ncbi.nlm.nih.gov/pubmed/19139490 PubMed 19159218 http://www.ncbi.nlm.nih.gov/pubmed/19159218 PubMed 1932003 http://www.ncbi.nlm.nih.gov/pubmed/1932003 PubMed 19838169 http://www.ncbi.nlm.nih.gov/pubmed/19838169 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 22905912 http://www.ncbi.nlm.nih.gov/pubmed/22905912 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 26091039 http://www.ncbi.nlm.nih.gov/pubmed/26091039 PubMed 2780570 http://www.ncbi.nlm.nih.gov/pubmed/2780570 PubMed 3106157 http://www.ncbi.nlm.nih.gov/pubmed/3106157 PubMed 3678832 http://www.ncbi.nlm.nih.gov/pubmed/3678832 PubMed 3786138 http://www.ncbi.nlm.nih.gov/pubmed/3786138 PubMed 3858812 http://www.ncbi.nlm.nih.gov/pubmed/3858812 PubMed 6322780 http://www.ncbi.nlm.nih.gov/pubmed/6322780 PubMed 6585826 http://www.ncbi.nlm.nih.gov/pubmed/6585826 PubMed 6833213 http://www.ncbi.nlm.nih.gov/pubmed/6833213 PubMed 6953407 http://www.ncbi.nlm.nih.gov/pubmed/6953407 PubMed 7498159 http://www.ncbi.nlm.nih.gov/pubmed/7498159 PubMed 9272172 http://www.ncbi.nlm.nih.gov/pubmed/9272172 PubMed 9358047 http://www.ncbi.nlm.nih.gov/pubmed/9358047 PubMed 9609685 http://www.ncbi.nlm.nih.gov/pubmed/9609685 PubMed 9760232 http://www.ncbi.nlm.nih.gov/pubmed/9760232 PubMed 9803271 http://www.ncbi.nlm.nih.gov/pubmed/9803271 Reactome R-HSA-114608 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-114608 Reactome R-HSA-8856825 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-8856825 Reactome R-HSA-8856828 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-8856828 Reactome R-HSA-917937 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-917937 Reactome R-HSA-917977 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-917977 RefSeq NP_001054 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001054 RefSeq XP_016862578 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016862578 RefSeq XP_016862579 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016862579 SMART SM00094 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00094 SMR P02787 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P02787 STRING 9606.ENSP00000385834 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000385834&targetmode=cogs SWISS-2DPAGE P02787 http://world-2dpage.expasy.org/swiss-2dpage/protein/ac=P02787 UCSC uc003epv http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003epv&org=rat UniGene Hs.518267 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.518267 UniProtKB TRFE_HUMAN http://www.uniprot.org/uniprot/TRFE_HUMAN UniProtKB-AC P02787 http://www.uniprot.org/uniprot/P02787 charge swissprot:TRFE_HUMAN http://rest.g-language.org/emboss/charge/swissprot:TRFE_HUMAN eggNOG ENOG410IEAI http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IEAI eggNOG ENOG410XQ36 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XQ36 epestfind swissprot:TRFE_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:TRFE_HUMAN garnier swissprot:TRFE_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:TRFE_HUMAN helixturnhelix swissprot:TRFE_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:TRFE_HUMAN hmoment swissprot:TRFE_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:TRFE_HUMAN iep swissprot:TRFE_HUMAN http://rest.g-language.org/emboss/iep/swissprot:TRFE_HUMAN inforesidue swissprot:TRFE_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:TRFE_HUMAN neXtProt NX_P02787 http://www.nextprot.org/db/entry/NX_P02787 octanol swissprot:TRFE_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:TRFE_HUMAN pepcoil swissprot:TRFE_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:TRFE_HUMAN pepdigest swissprot:TRFE_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:TRFE_HUMAN pepinfo swissprot:TRFE_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:TRFE_HUMAN pepnet swissprot:TRFE_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:TRFE_HUMAN pepstats swissprot:TRFE_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:TRFE_HUMAN pepwheel swissprot:TRFE_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:TRFE_HUMAN pepwindow swissprot:TRFE_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:TRFE_HUMAN sigcleave swissprot:TRFE_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:TRFE_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS ABCAA_HUMAN Event=Alternative splicing; Named isoforms=5; Name=1; IsoId=Q8WWZ4-1; Sequence=Displayed; Name=2; Synonyms=ABCA10delta+82; IsoId=Q8WWZ4-2; Sequence=VSP_021061; Name=3; Synonyms=ABCA10delta-104; IsoId=Q8WWZ4-3; Sequence=VSP_021062, VSP_021063; Name=4; Synonyms=ABCA10delta-176; IsoId=Q8WWZ4-4; Sequence=VSP_021065, VSP_021066; Name=5; IsoId=Q8WWZ4-5; Sequence=VSP_021064, VSP_021067; Note=No experimental confirmation available.; # BioGrid 115630 2 # CCDS CCDS11684 -. [Q8WWZ4-1] # ChiTaRS ABCA10 human # Ensembl ENST00000269081 ENSP00000269081; ENSG00000154263. [Q8WWZ4-1] # Ensembl ENST00000522406 ENSP00000429853; ENSG00000154263. [Q8WWZ4-5] # Ensembl ENST00000523512 ENSP00000429945; ENSG00000154263. [Q8WWZ4-3] # ExpressionAtlas Q8WWZ4 baseline and differential # FUNCTION ABCAA_HUMAN Probable transporter which may play a role in macrophage lipid homeostasis. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0043231 intracellular membrane-bounded organelle; IBA:GO_Central. # GO_function GO:0005524 ATP binding; IEA:UniProtKB-KW. # GO_function GO:0042626 ATPase activity, coupled to transmembrane movement of substances; IBA:GO_Central. # GO_process GO:0006869 lipid transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0043226 organelle # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # Gene3D 3.40.50.300 -; 2. # HGNC HGNC:30 ABCA10 # INDUCTION Down-regulated by cholesterol loading of macrophages. {ECO:0000269|PubMed 12821155}. # InterPro IPR003439 ABC_transporter-like # InterPro IPR003593 AAA+_ATPase # InterPro IPR017871 ABC_transporter_CS # InterPro IPR026082 ABC_A # InterPro IPR027417 P-loop_NTPase # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02000 Transporters # KEGG_Pathway ko02010 ABC transporters # MIM 612508 gene # Organism ABCAA_HUMAN Homo sapiens (Human) # PANTHER PTHR19229 PTHR19229 # PROSITE PS00211 ABC_TRANSPORTER_1 # PROSITE PS50893 ABC_TRANSPORTER_2; 2 # Pfam PF00005 ABC_tran; 2 # Proteomes UP000005640 Chromosome 17 # Reactome R-HSA-1369062 ABC transporters in lipid homeostasis # RecName ABCAA_HUMAN ATP-binding cassette sub-family A member 10 # RefSeq NP_525021 NM_080282.3. [Q8WWZ4-1] # SIMILARITY Belongs to the ABC transporter superfamily. ABCA family. {ECO 0000305}. # SIMILARITY Contains 2 ABC transporter domains. {ECO:0000255|PROSITE-ProRule PRU00434}. # SMART SM00382 AAA; 2 # SUBCELLULAR LOCATION ABCAA_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # SUPFAM SSF52540 SSF52540; 2 # TCDB 3.A.1.211.17 the atp-binding cassette (abc) superfamily # TISSUE SPECIFICITY Widely expressed. Highly expressed in skeletal muscle, heart, brain and gastrointestinal tract. {ECO:0000269|PubMed 12821155, ECO:0000269|Ref.1}. # UCSC uc010dfa human. [Q8WWZ4-1] # WEB RESOURCE ABCAA_HUMAN Name=ABCMdb; Note=Database for mutations in ABC proteins; URL="http //abcmutations.hegelab.org/proteinDetails?uniprot_id=Q8WWZ4"; # eggNOG COG1131 LUCA # eggNOG KOG0059 Eukaryota BLAST swissprot:ABCAA_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ABCAA_HUMAN BioCyc ZFISH:ENSG00000154263-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000154263-MONOMER COXPRESdb 10349 http://coxpresdb.jp/data/gene/10349.shtml CleanEx HS_ABCA10 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ABCA10 DOI 10.1016/S0006-291X(03)01097-0 http://dx.doi.org/10.1016/S0006-291X(03)01097-0 DOI 10.1038/nature04689 http://dx.doi.org/10.1038/nature04689 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 EMBL AC005495 http://www.ebi.ac.uk/ena/data/view/AC005495 EMBL AL832004 http://www.ebi.ac.uk/ena/data/view/AL832004 EMBL AY028900 http://www.ebi.ac.uk/ena/data/view/AY028900 EMBL AY247065 http://www.ebi.ac.uk/ena/data/view/AY247065 EMBL AY247069 http://www.ebi.ac.uk/ena/data/view/AY247069 EMBL AY247070 http://www.ebi.ac.uk/ena/data/view/AY247070 EMBL AY247071 http://www.ebi.ac.uk/ena/data/view/AY247071 EMBL AY247072 http://www.ebi.ac.uk/ena/data/view/AY247072 EMBL AY247073 http://www.ebi.ac.uk/ena/data/view/AY247073 EMBL AY247074 http://www.ebi.ac.uk/ena/data/view/AY247074 EMBL AY247075 http://www.ebi.ac.uk/ena/data/view/AY247075 EMBL AY247076 http://www.ebi.ac.uk/ena/data/view/AY247076 EMBL AY247077 http://www.ebi.ac.uk/ena/data/view/AY247077 EMBL AY247078 http://www.ebi.ac.uk/ena/data/view/AY247078 EMBL AY247079 http://www.ebi.ac.uk/ena/data/view/AY247079 EMBL AY247080 http://www.ebi.ac.uk/ena/data/view/AY247080 EMBL AY247081 http://www.ebi.ac.uk/ena/data/view/AY247081 EMBL AY247082 http://www.ebi.ac.uk/ena/data/view/AY247082 EMBL AY247083 http://www.ebi.ac.uk/ena/data/view/AY247083 EMBL AY247084 http://www.ebi.ac.uk/ena/data/view/AY247084 EMBL AY247085 http://www.ebi.ac.uk/ena/data/view/AY247085 EMBL AY247086 http://www.ebi.ac.uk/ena/data/view/AY247086 EMBL AY247087 http://www.ebi.ac.uk/ena/data/view/AY247087 EMBL AY247088 http://www.ebi.ac.uk/ena/data/view/AY247088 EMBL AY247089 http://www.ebi.ac.uk/ena/data/view/AY247089 EMBL AY247090 http://www.ebi.ac.uk/ena/data/view/AY247090 EMBL AY247091 http://www.ebi.ac.uk/ena/data/view/AY247091 EMBL AY247092 http://www.ebi.ac.uk/ena/data/view/AY247092 EMBL AY247093 http://www.ebi.ac.uk/ena/data/view/AY247093 EMBL AY247094 http://www.ebi.ac.uk/ena/data/view/AY247094 EMBL AY247095 http://www.ebi.ac.uk/ena/data/view/AY247095 EMBL AY247096 http://www.ebi.ac.uk/ena/data/view/AY247096 EMBL AY247097 http://www.ebi.ac.uk/ena/data/view/AY247097 EMBL AY247098 http://www.ebi.ac.uk/ena/data/view/AY247098 EMBL AY247099 http://www.ebi.ac.uk/ena/data/view/AY247099 EMBL AY247100 http://www.ebi.ac.uk/ena/data/view/AY247100 EMBL AY247101 http://www.ebi.ac.uk/ena/data/view/AY247101 EMBL AY247102 http://www.ebi.ac.uk/ena/data/view/AY247102 EMBL AY247103 http://www.ebi.ac.uk/ena/data/view/AY247103 EMBL AY247104 http://www.ebi.ac.uk/ena/data/view/AY247104 EMBL AY247105 http://www.ebi.ac.uk/ena/data/view/AY247105 EMBL BC031026 http://www.ebi.ac.uk/ena/data/view/BC031026 EMBL BC051320 http://www.ebi.ac.uk/ena/data/view/BC051320 Ensembl ENST00000269081 http://www.ensembl.org/id/ENST00000269081 Ensembl ENST00000522406 http://www.ensembl.org/id/ENST00000522406 Ensembl ENST00000523512 http://www.ensembl.org/id/ENST00000523512 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0043231 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043231 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0042626 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042626 GO_process GO:0006869 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006869 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 Gene3D 3.40.50.300 http://www.cathdb.info/version/latest/superfamily/3.40.50.300 GeneCards ABCA10 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ABCA10 GeneID 10349 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=10349 GeneTree ENSGT00760000118965 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118965 HGNC HGNC:30 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:30 HOVERGEN HBG079884 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG079884&db=HOVERGEN HPA HPA014535 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA014535 InParanoid Q8WWZ4 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8WWZ4 InterPro IPR003439 http://www.ebi.ac.uk/interpro/entry/IPR003439 InterPro IPR003593 http://www.ebi.ac.uk/interpro/entry/IPR003593 InterPro IPR017871 http://www.ebi.ac.uk/interpro/entry/IPR017871 InterPro IPR026082 http://www.ebi.ac.uk/interpro/entry/IPR026082 InterPro IPR027417 http://www.ebi.ac.uk/interpro/entry/IPR027417 Jabion 10349 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=10349 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Gene hsa:10349 http://www.genome.jp/dbget-bin/www_bget?hsa:10349 KEGG_Orthology KO:K05652 http://www.genome.jp/dbget-bin/www_bget?KO:K05652 KEGG_Pathway ko02010 http://www.genome.jp/kegg-bin/show_pathway?ko02010 MIM 612508 http://www.ncbi.nlm.nih.gov/omim/612508 OMA EWFIFIC http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=EWFIFIC OrthoDB EOG091G00AG http://cegg.unige.ch/orthodb/results?searchtext=EOG091G00AG PANTHER PTHR19229 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR19229 PROSITE PS00211 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00211 PROSITE PS50893 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50893 PSORT swissprot:ABCAA_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ABCAA_HUMAN PSORT-B swissprot:ABCAA_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ABCAA_HUMAN PSORT2 swissprot:ABCAA_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ABCAA_HUMAN Pfam PF00005 http://pfam.xfam.org/family/PF00005 PharmGKB PA24374 http://www.pharmgkb.org/do/serve?objId=PA24374&objCls=Gene Phobius swissprot:ABCAA_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ABCAA_HUMAN PhylomeDB Q8WWZ4 http://phylomedb.org/?seqid=Q8WWZ4 ProteinModelPortal Q8WWZ4 http://www.proteinmodelportal.org/query/uniprot/Q8WWZ4 PubMed 12821155 http://www.ncbi.nlm.nih.gov/pubmed/12821155 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16625196 http://www.ncbi.nlm.nih.gov/pubmed/16625196 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 Reactome R-HSA-1369062 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1369062 RefSeq NP_525021 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_525021 SMART SM00382 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00382 SMR Q8WWZ4 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q8WWZ4 STRING 9606.ENSP00000269081 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000269081&targetmode=cogs SUPFAM SSF52540 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52540 TCDB 3.A.1.211.17 http://www.tcdb.org/search/result.php?tc=3.A.1.211.17 UCSC uc010dfa http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc010dfa&org=rat UniGene Hs.25377 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.25377 UniProtKB ABCAA_HUMAN http://www.uniprot.org/uniprot/ABCAA_HUMAN UniProtKB-AC Q8WWZ4 http://www.uniprot.org/uniprot/Q8WWZ4 charge swissprot:ABCAA_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ABCAA_HUMAN eggNOG COG1131 http://eggnogapi.embl.de/nog_data/html/tree/COG1131 eggNOG KOG0059 http://eggnogapi.embl.de/nog_data/html/tree/KOG0059 epestfind swissprot:ABCAA_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ABCAA_HUMAN garnier swissprot:ABCAA_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ABCAA_HUMAN helixturnhelix swissprot:ABCAA_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ABCAA_HUMAN hmoment swissprot:ABCAA_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ABCAA_HUMAN iep swissprot:ABCAA_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ABCAA_HUMAN inforesidue swissprot:ABCAA_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ABCAA_HUMAN neXtProt NX_Q8WWZ4 http://www.nextprot.org/db/entry/NX_Q8WWZ4 octanol swissprot:ABCAA_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ABCAA_HUMAN pepcoil swissprot:ABCAA_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ABCAA_HUMAN pepdigest swissprot:ABCAA_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ABCAA_HUMAN pepinfo swissprot:ABCAA_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ABCAA_HUMAN pepnet swissprot:ABCAA_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ABCAA_HUMAN pepstats swissprot:ABCAA_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ABCAA_HUMAN pepwheel swissprot:ABCAA_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ABCAA_HUMAN pepwindow swissprot:ABCAA_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ABCAA_HUMAN sigcleave swissprot:ABCAA_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ABCAA_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS MLC1_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q15049-1; Sequence=Displayed; Name=2; IsoId=Q15049-2; Sequence=VSP_055494; Note=No experimental confirmation available.; # BioGrid 116816 15 # CCDS CCDS14083 -. [Q15049-1] # ChiTaRS MLC1 human # DISEASE MLC1_HUMAN Leukoencephalopathy, megalencephalic, with subcortical cysts, 1 (MLC1) [MIM 604004] A syndrome of cerebral leukoencephalopathy and megalencephaly characterized by ataxia, spasticity, seizures, delay in motor development and mild mental retardation. The brain appears swollen on magnetic resonance imaging, with diffuse white-matter abnormalities and the invariable presence of subcortical cysts in frontal and temporal lobes. {ECO 0000269|PubMed 11254442, ECO 0000269|PubMed 11935341, ECO 0000269|PubMed 12189496, ECO 0000269|PubMed 16652334}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000311597 ENSP00000310375; ENSG00000100427. [Q15049-1] # Ensembl ENST00000395876 ENSP00000379216; ENSG00000100427. [Q15049-1] # ExpressionAtlas Q15049 baseline and differential # FUNCTION MLC1_HUMAN Regulates the response of astrocytes to hypo-osmosis by promoting calcium influx. {ECO 0000269|PubMed 22328087}. # GO_component GO:0005737 cytoplasm; IDA:UniProtKB. # GO_component GO:0005764 lysosome; ISS:UniProtKB. # GO_component GO:0005768 endosome; IDA:UniProtKB. # GO_component GO:0005769 early endosome; ISS:UniProtKB. # GO_component GO:0005783 endoplasmic reticulum; IDA:UniProtKB. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0005901 caveola; ISS:UniProtKB. # GO_component GO:0005911 cell-cell junction; IEA:Ensembl. # GO_component GO:0016021 integral component of membrane; IDA:UniProtKB. # GO_component GO:0016323 basolateral plasma membrane; IDA:UniProtKB. # GO_component GO:0016324 apical plasma membrane; IEA:Ensembl. # GO_component GO:0031410 cytoplasmic vesicle; IDA:UniProtKB. # GO_component GO:0045121 membrane raft; ISS:UniProtKB. # GO_component GO:0048471 perinuclear region of cytoplasm; IDA:UniProtKB. # GO_component GO:0055037 recycling endosome; ISS:UniProtKB. # GO_function GO:0005215 transporter activity; NAS:UniProtKB. # GO_function GO:0008565 protein transporter activity; ISS:UniProtKB. # GO_function GO:0032403 protein complex binding; IDA:UniProtKB. # GO_process GO:0006810 transport; NAS:UniProtKB. # GO_process GO:0006811 ion transport; IEA:UniProtKB-KW. # GO_process GO:0016192 vesicle-mediated transport; ISS:UniProtKB. # GO_process GO:0032388 positive regulation of intracellular transport; IDA:UniProtKB. # GO_process GO:0047484 regulation of response to osmotic stress; IMP:UniProtKB. # GO_process GO:0051259 protein oligomerization; IDA:UniProtKB. # GO_process GO:0071397 cellular response to cholesterol; ISS:UniProtKB. # GO_process GO:0072584 caveolin-mediated endocytosis; ISS:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005764 lysosome # GOslim_component GO:0005768 endosome # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0031410 cytoplasmic vesicle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0008565 protein transporter activity # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0016192 vesicle-mediated transport # Genevisible Q15049 HS # HGNC HGNC:17082 MLC1 # IntAct Q15049 5 # InterPro IPR033280 Membrane_MLC1 # KEGG_Disease H00875 [Nervous system disease] Megalencephalic leukoencephalopathy with subcortical cysts (MLC) # MIM 604004 phenotype # MIM 605908 gene # Organism MLC1_HUMAN Homo sapiens (Human) # Orphanet 2478 Megalencephalic leukoencephalopathy with subcortical cysts # PANTHER PTHR17597 PTHR17597 # ProDom PD492528 PD492528 # Proteomes UP000005640 Chromosome 22 # RecName MLC1_HUMAN Membrane protein MLC1 # RefSeq NP_055981 NM_015166.3. [Q15049-1] # RefSeq NP_631941 NM_139202.2. [Q15049-1] # RefSeq XP_016884160 XM_017028671.1. [Q15049-1] # SEQUENCE CAUTION Sequence=BAA04947.3; Type=Erroneous initiation; Evidence={ECO 0000305}; # SUBCELLULAR LOCATION MLC1_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. Cell membrane {ECO 0000269|PubMed 22328087}. Cytoplasm, perinuclear region {ECO 0000269|PubMed 22328087}. Endoplasmic reticulum {ECO 0000269|PubMed 22328087}. # SUBUNIT Interacts with ATP1B1. Part of a complex containing ATP1B1, TRPV4, AQP4 and HEPACAM. {ECO:0000269|PubMed 22328087}. # TCDB 9.B.129.1 the membrane protein mlc1 family # TISSUE SPECIFICITY Expressed in the brain, with highest levels found in the amygdala, nucleus caudatus, thalamus and hippocampus. {ECO:0000269|PubMed 11326298}. # UCSC uc003bjg human. [Q15049-1] # WEB RESOURCE MLC1_HUMAN Name=Mendelian genes megalencephalic leukoencephalopathy with subcortical cysts 1 (MLC1); Note=Leiden Open Variation Database (LOVD); URL="http //www.lovd.nl/MLC1"; # eggNOG ENOG410IGRJ Eukaryota # eggNOG ENOG410YAP9 LUCA BLAST swissprot:MLC1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:MLC1_HUMAN BioCyc ZFISH:ENSG00000100427-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000100427-MONOMER COXPRESdb 23209 http://coxpresdb.jp/data/gene/23209.shtml CleanEx HS_MLC1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_MLC1 DOI 10.1002/humu.20332 http://dx.doi.org/10.1002/humu.20332 DOI 10.1007/s00439-002-0682-x http://dx.doi.org/10.1007/s00439-002-0682-x DOI 10.1007/s00439-002-0770-y http://dx.doi.org/10.1007/s00439-002-0770-y DOI 10.1038/990031 http://dx.doi.org/10.1038/990031 DOI 10.1038/nbt810 http://dx.doi.org/10.1038/nbt810 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1038/sj.mp.4000869 http://dx.doi.org/10.1038/sj.mp.4000869 DOI 10.1086/319519 http://dx.doi.org/10.1086/319519 DOI 10.1093/dnares/1.1.27 http://dx.doi.org/10.1093/dnares/1.1.27 DOI 10.1093/dnares/9.3.99 http://dx.doi.org/10.1093/dnares/9.3.99 DOI 10.1093/hmg/dds032 http://dx.doi.org/10.1093/hmg/dds032 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/gb-2004-5-10-r84 http://dx.doi.org/10.1186/gb-2004-5-10-r84 EMBL AF319633 http://www.ebi.ac.uk/ena/data/view/AF319633 EMBL AK124264 http://www.ebi.ac.uk/ena/data/view/AK124264 EMBL AK299841 http://www.ebi.ac.uk/ena/data/view/AK299841 EMBL AL022327 http://www.ebi.ac.uk/ena/data/view/AL022327 EMBL BC028425 http://www.ebi.ac.uk/ena/data/view/BC028425 EMBL CH471138 http://www.ebi.ac.uk/ena/data/view/CH471138 EMBL CR456460 http://www.ebi.ac.uk/ena/data/view/CR456460 EMBL D25217 http://www.ebi.ac.uk/ena/data/view/D25217 Ensembl ENST00000311597 http://www.ensembl.org/id/ENST00000311597 Ensembl ENST00000395876 http://www.ensembl.org/id/ENST00000395876 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005764 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005764 GO_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GO_component GO:0005769 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005769 GO_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005901 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005901 GO_component GO:0005911 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005911 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0016323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016323 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:0031410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410 GO_component GO:0045121 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045121 GO_component GO:0048471 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048471 GO_component GO:0055037 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055037 GO_function GO:0005215 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005215 GO_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GO_function GO:0032403 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032403 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0006811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006811 GO_process GO:0016192 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016192 GO_process GO:0032388 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032388 GO_process GO:0047484 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0047484 GO_process GO:0051259 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051259 GO_process GO:0071397 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071397 GO_process GO:0072584 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0072584 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005764 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005764 GOslim_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0031410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0016192 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016192 GeneCards MLC1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=MLC1 GeneID 23209 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=23209 GeneTree ENSGT00390000015442 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000015442 HGNC HGNC:17082 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:17082 HOGENOM HOG000065767 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000065767&db=HOGENOM6 HOVERGEN HBG049239 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG049239&db=HOVERGEN HPA HPA003040 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA003040 HPA HPA067533 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA067533 InParanoid Q15049 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q15049 IntAct Q15049 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q15049* InterPro IPR033280 http://www.ebi.ac.uk/interpro/entry/IPR033280 Jabion 23209 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=23209 KEGG_Disease H00875 http://www.genome.jp/dbget-bin/www_bget?H00875 KEGG_Gene hsa:23209 http://www.genome.jp/dbget-bin/www_bget?hsa:23209 MIM 604004 http://www.ncbi.nlm.nih.gov/omim/604004 MIM 605908 http://www.ncbi.nlm.nih.gov/omim/605908 MINT MINT-8417695 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-8417695 OMA FKDYPPA http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=FKDYPPA Orphanet 2478 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=2478 OrthoDB EOG091G0AUD http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0AUD PANTHER PTHR17597 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR17597 PSORT swissprot:MLC1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:MLC1_HUMAN PSORT-B swissprot:MLC1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:MLC1_HUMAN PSORT2 swissprot:MLC1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:MLC1_HUMAN PharmGKB PA38199 http://www.pharmgkb.org/do/serve?objId=PA38199&objCls=Gene Phobius swissprot:MLC1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:MLC1_HUMAN PhylomeDB Q15049 http://phylomedb.org/?seqid=Q15049 ProteinModelPortal Q15049 http://www.proteinmodelportal.org/query/uniprot/Q15049 PubMed 10591208 http://www.ncbi.nlm.nih.gov/pubmed/10591208 PubMed 11254442 http://www.ncbi.nlm.nih.gov/pubmed/11254442 PubMed 11326298 http://www.ncbi.nlm.nih.gov/pubmed/11326298 PubMed 11935341 http://www.ncbi.nlm.nih.gov/pubmed/11935341 PubMed 12168954 http://www.ncbi.nlm.nih.gov/pubmed/12168954 PubMed 12189496 http://www.ncbi.nlm.nih.gov/pubmed/12189496 PubMed 12665801 http://www.ncbi.nlm.nih.gov/pubmed/12665801 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15461802 http://www.ncbi.nlm.nih.gov/pubmed/15461802 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16652334 http://www.ncbi.nlm.nih.gov/pubmed/16652334 PubMed 22328087 http://www.ncbi.nlm.nih.gov/pubmed/22328087 PubMed 7584026 http://www.ncbi.nlm.nih.gov/pubmed/7584026 RefSeq NP_055981 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_055981 RefSeq NP_631941 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_631941 RefSeq XP_016884160 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016884160 STRING 9606.ENSP00000310375 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000310375&targetmode=cogs TCDB 9.B.129.1 http://www.tcdb.org/search/result.php?tc=9.B.129.1 UCSC uc003bjg http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003bjg&org=rat UniGene Hs.517729 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.517729 UniProtKB MLC1_HUMAN http://www.uniprot.org/uniprot/MLC1_HUMAN UniProtKB-AC Q15049 http://www.uniprot.org/uniprot/Q15049 charge swissprot:MLC1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:MLC1_HUMAN eggNOG ENOG410IGRJ http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IGRJ eggNOG ENOG410YAP9 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410YAP9 epestfind swissprot:MLC1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:MLC1_HUMAN garnier swissprot:MLC1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:MLC1_HUMAN helixturnhelix swissprot:MLC1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:MLC1_HUMAN hmoment swissprot:MLC1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:MLC1_HUMAN iep swissprot:MLC1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:MLC1_HUMAN inforesidue swissprot:MLC1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:MLC1_HUMAN neXtProt NX_Q15049 http://www.nextprot.org/db/entry/NX_Q15049 octanol swissprot:MLC1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:MLC1_HUMAN pepcoil swissprot:MLC1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:MLC1_HUMAN pepdigest swissprot:MLC1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:MLC1_HUMAN pepinfo swissprot:MLC1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:MLC1_HUMAN pepnet swissprot:MLC1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:MLC1_HUMAN pepstats swissprot:MLC1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:MLC1_HUMAN pepwheel swissprot:MLC1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:MLC1_HUMAN pepwindow swissprot:MLC1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:MLC1_HUMAN sigcleave swissprot:MLC1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:MLC1_HUMAN ## Database ID URL or Descriptions # AltName SCN7A_HUMAN Putative voltage-gated sodium channel subunit alpha Nax # AltName SCN7A_HUMAN Sodium channel protein cardiac and skeletal muscle subunit alpha # AltName SCN7A_HUMAN Sodium channel protein type VII subunit alpha # DOMAIN SCN7A_HUMAN The sequence contains 4 internal repeats, each with 5 hydrophobic segments (S1,S2,S3,S5,S6) and one positively charged segment (S4). Segments S4 are probably the voltage-sensors and are characterized by a series of positively charged amino acids at every third position. {ECO 0000305}. # DrugBank DB00313 Valproic Acid # Ensembl ENST00000409855 ENSP00000386796; ENSG00000136546 # Ensembl ENST00000619410 ENSP00000478562; ENSG00000136546 # Ensembl ENST00000621965 ENSP00000481734; ENSG00000136546 # ExpressionAtlas Q01118 baseline and differential # FUNCTION SCN7A_HUMAN Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient. {ECO 0000305}. # GO_component GO:0001518 voltage-gated sodium channel complex; IEA:InterPro. # GO_component GO:0005886 plasma membrane; IBA:GO_Central. # GO_component GO:0097386 glial cell projection; IEA:Ensembl. # GO_function GO:0005248 voltage-gated sodium channel activity; TAS:ProtInc. # GO_process GO:0006814 sodium ion transport; TAS:ProtInc. # GO_process GO:0006936 muscle contraction; TAS:ProtInc. # GO_process GO:0019228 neuronal action potential; IBA:GO_Central. # GO_process GO:0055078 sodium ion homeostasis; IEA:Ensembl. # GO_process GO:0086010 membrane depolarization during action potential; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # Gene3D 1.20.120.350 -; 4. # Genevisible Q01118 HS # HGNC HGNC:10594 SCN7A # InterPro IPR001696 Na_channel_asu # InterPro IPR005821 Ion_trans_dom # InterPro IPR010526 Na_trans_assoc # InterPro IPR027359 Channel_four-helix_dom # InterPro IPR028812 Na_channel_a7su # KEGG_Brite ko04040 Ion channels # MIM 182392 gene # Organism SCN7A_HUMAN Homo sapiens (Human) # PANTHER PTHR10037:SF14 PTHR10037:SF14 # PIR A45380 A45380 # PRINTS PR00170 NACHANNEL # Pfam PF00520 Ion_trans; 4 # Pfam PF06512 Na_trans_assoc # Proteomes UP000005640 Chromosome 2 # Reactome R-HSA-445095 Interaction between L1 and Ankyrins # Reactome R-HSA-5576892 Phase 0 - rapid depolarisation # RecName SCN7A_HUMAN Sodium channel protein type 7 subunit alpha # RefSeq NP_002967 NM_002976.3 # RefSeq XP_006712743 XM_006712680.2 # RefSeq XP_006712744 XM_006712681.3 # RefSeq XP_006712745 XM_006712682.3 # RefSeq XP_011509917 XM_011511615.2 # RefSeq XP_016860156 XM_017004667.1 # SIMILARITY Belongs to the sodium channel (TC 1.A.1.10) family. SCN7A subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION SCN7A_HUMAN Cell membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # TISSUE SPECIFICITY Heart and uterus. {ECO:0000269|PubMed 1317577}. # UCSC uc002udu human # eggNOG ENOG410INF4 Eukaryota # eggNOG ENOG410Y1Z2 LUCA BLAST swissprot:SCN7A_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SCN7A_HUMAN BioCyc ZFISH:ENSG00000136546-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000136546-MONOMER COXPRESdb 6332 http://coxpresdb.jp/data/gene/6332.shtml CleanEx HS_SCN7A http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SCN7A DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1073/pnas.89.11.4893 http://dx.doi.org/10.1073/pnas.89.11.4893 DrugBank DB00313 http://www.drugbank.ca/drugs/DB00313 EMBL AC074101 http://www.ebi.ac.uk/ena/data/view/AC074101 EMBL AC092583 http://www.ebi.ac.uk/ena/data/view/AC092583 EMBL M91556 http://www.ebi.ac.uk/ena/data/view/M91556 Ensembl ENST00000409855 http://www.ensembl.org/id/ENST00000409855 Ensembl ENST00000619410 http://www.ensembl.org/id/ENST00000619410 Ensembl ENST00000621965 http://www.ensembl.org/id/ENST00000621965 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0001518 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001518 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0097386 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097386 GO_function GO:0005248 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005248 GO_process GO:0006814 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006814 GO_process GO:0006936 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006936 GO_process GO:0019228 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019228 GO_process GO:0055078 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055078 GO_process GO:0086010 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086010 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 Gene3D 1.20.120.350 http://www.cathdb.info/version/latest/superfamily/1.20.120.350 GeneCards SCN7A http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SCN7A GeneID 6332 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6332 GeneTree ENSGT00830000128242 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00830000128242 HGNC HGNC:10594 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10594 HOGENOM HOG000231755 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231755&db=HOGENOM6 HOVERGEN HBG053100 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG053100&db=HOVERGEN HPA HPA004879 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA004879 InParanoid Q01118 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q01118 InterPro IPR001696 http://www.ebi.ac.uk/interpro/entry/IPR001696 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR010526 http://www.ebi.ac.uk/interpro/entry/IPR010526 InterPro IPR027359 http://www.ebi.ac.uk/interpro/entry/IPR027359 InterPro IPR028812 http://www.ebi.ac.uk/interpro/entry/IPR028812 Jabion 6332 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6332 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:6332 http://www.genome.jp/dbget-bin/www_bget?hsa:6332 KEGG_Orthology KO:K04839 http://www.genome.jp/dbget-bin/www_bget?KO:K04839 MIM 182392 http://www.ncbi.nlm.nih.gov/omim/182392 OMA LEYADMI http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=LEYADMI OrthoDB EOG091G00FK http://cegg.unige.ch/orthodb/results?searchtext=EOG091G00FK PANTHER PTHR10037:SF14 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10037:SF14 PRINTS PR00170 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00170 PSORT swissprot:SCN7A_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SCN7A_HUMAN PSORT-B swissprot:SCN7A_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SCN7A_HUMAN PSORT2 swissprot:SCN7A_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SCN7A_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF06512 http://pfam.xfam.org/family/PF06512 PharmGKB PA35008 http://www.pharmgkb.org/do/serve?objId=PA35008&objCls=Gene Phobius swissprot:SCN7A_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SCN7A_HUMAN PhylomeDB Q01118 http://phylomedb.org/?seqid=Q01118 ProteinModelPortal Q01118 http://www.proteinmodelportal.org/query/uniprot/Q01118 PubMed 1317577 http://www.ncbi.nlm.nih.gov/pubmed/1317577 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 Reactome R-HSA-445095 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-445095 Reactome R-HSA-5576892 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576892 RefSeq NP_002967 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_002967 RefSeq XP_006712743 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006712743 RefSeq XP_006712744 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006712744 RefSeq XP_006712745 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006712745 RefSeq XP_011509917 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011509917 RefSeq XP_016860156 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016860156 STRING 9606.ENSP00000386796 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000386796&targetmode=cogs UCSC uc002udu http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002udu&org=rat UniGene Hs.596087 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.596087 UniGene Hs.644853 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.644853 UniProtKB SCN7A_HUMAN http://www.uniprot.org/uniprot/SCN7A_HUMAN UniProtKB-AC Q01118 http://www.uniprot.org/uniprot/Q01118 charge swissprot:SCN7A_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SCN7A_HUMAN eggNOG ENOG410INF4 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410INF4 eggNOG ENOG410Y1Z2 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410Y1Z2 epestfind swissprot:SCN7A_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SCN7A_HUMAN garnier swissprot:SCN7A_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SCN7A_HUMAN helixturnhelix swissprot:SCN7A_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SCN7A_HUMAN hmoment swissprot:SCN7A_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SCN7A_HUMAN iep swissprot:SCN7A_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SCN7A_HUMAN inforesidue swissprot:SCN7A_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SCN7A_HUMAN neXtProt NX_Q01118 http://www.nextprot.org/db/entry/NX_Q01118 octanol swissprot:SCN7A_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SCN7A_HUMAN pepcoil swissprot:SCN7A_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SCN7A_HUMAN pepdigest swissprot:SCN7A_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SCN7A_HUMAN pepinfo swissprot:SCN7A_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SCN7A_HUMAN pepnet swissprot:SCN7A_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SCN7A_HUMAN pepstats swissprot:SCN7A_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SCN7A_HUMAN pepwheel swissprot:SCN7A_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SCN7A_HUMAN pepwindow swissprot:SCN7A_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SCN7A_HUMAN sigcleave swissprot:SCN7A_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SCN7A_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS B2LA1_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q16548-1; Sequence=Displayed; Name=2; IsoId=Q16548-2; Sequence=VSP_043106; # AltName B2LA1_HUMAN Bcl-2-like protein 5 # AltName B2LA1_HUMAN Hemopoietic-specific early response protein # AltName B2LA1_HUMAN Protein BFL-1 # AltName B2LA1_HUMAN Protein GRS # BioGrid 107069 16 # CCDS CCDS10312 -. [Q16548-1] # CCDS CCDS45322 -. [Q16548-2] # ChiTaRS BCL2A1 human # Ensembl ENST00000267953 ENSP00000267953; ENSG00000140379. [Q16548-1] # Ensembl ENST00000335661 ENSP00000335250; ENSG00000140379. [Q16548-2] # FUNCTION B2LA1_HUMAN Retards apoptosis induced by IL-3 deprivation. May function in the response of hemopoietic cells to external signals and in maintaining endothelial survival during infection (By similarity). Can inhibit apoptosis induced by serum starvation in the mammary epithelial cell line HC11 (By similarity). {ECO 0000250, ECO 0000250|UniProtKB Q07440}. # GO_component GO:0005741 mitochondrial outer membrane; IBA:GO_Central. # GO_function GO:0015267 channel activity; IBA:GO_Central. # GO_function GO:0042803 protein homodimerization activity; IBA:GO_Central. # GO_function GO:0046982 protein heterodimerization activity; IBA:GO_Central. # GO_process GO:0001836 release of cytochrome c from mitochondria; IBA:GO_Central. # GO_process GO:0007568 aging; IEA:Ensembl. # GO_process GO:0008053 mitochondrial fusion; IBA:GO_Central. # GO_process GO:0008630 intrinsic apoptotic signaling pathway in response to DNA damage; IBA:GO_Central. # GO_process GO:0021987 cerebral cortex development; IEA:Ensembl. # GO_process GO:0043065 positive regulation of apoptotic process; IBA:GO_Central. # GO_process GO:0043066 negative regulation of apoptotic process; ISS:UniProtKB. # GO_process GO:0097192 extrinsic apoptotic signaling pathway in absence of ligand; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007005 mitochondrion organization # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0007568 aging # GOslim_process GO:0008150 biological_process # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0061024 membrane organization # Genevisible Q16548 HS # HGNC HGNC:991 BCL2A1 # INDUCTION B2LA1_HUMAN By phorbol ester and inflammatory cytokines, such as TNF or IL1B/interleukin-1 beta, but not by growth factors. # INTERACTION B2LA1_HUMAN Q16611 BAK1; NbExp=5; IntAct=EBI-1003550, EBI-519866; Q13323 BIK; NbExp=5; IntAct=EBI-1003550, EBI-700794; Q8IZU0 FAM9B; NbExp=3; IntAct=EBI-1003550, EBI-10175124; # IntAct Q16548 10 # InterPro IPR002475 Bcl2-like # InterPro IPR013282 Bcl2A1 # InterPro IPR020717 Bcl2_BH1_motif_CS # InterPro IPR020726 Bcl2_BH2_motif_CS # InterPro IPR026298 Blc2_fam # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Pathway ko04064 NF-kappa B signaling pathway # KEGG_Pathway ko05202 Transcriptional misregulation in cancer # MIM 601056 gene # Organism B2LA1_HUMAN Homo sapiens (Human) # PANTHER PTHR11256 PTHR11256 # PANTHER PTHR11256:SF10 PTHR11256:SF10 # PDB 2VM6 X-ray; 2.20 A; A=1-149 # PDB 3I1H X-ray; 2.20 A; A=1-151 # PDB 3MQP X-ray; 2.24 A; A=1-151 # PDB 4ZEQ X-ray; 1.80 A; A=1-151 # PIR I39055 I39055 # PRINTS PR01862 BCL2FAMILY # PRINTS PR01867 BCL2RLATEDA1 # PROSITE PS01080 BH1 # PROSITE PS01258 BH2 # PROSITE PS50062 BCL2_FAMILY # Pfam PF00452 Bcl-2 # Proteomes UP000005640 Chromosome 15 # RecName B2LA1_HUMAN Bcl-2-related protein A1 # RefSeq NP_001108207 NM_001114735.1. [Q16548-2] # RefSeq NP_004040 NM_004049.3. [Q16548-1] # SIMILARITY Belongs to the Bcl-2 family. {ECO 0000305}. # SUBCELLULAR LOCATION B2LA1_HUMAN Cytoplasm. # SUBUNIT B2LA1_HUMAN Interacts directly with BAK1, BID, BMF and BBC3 (By similarity). Interacts directly with BCL2L11/BIM. Interacts with BAX isoform Sigma. Interacts directly with PMAIP1. Interacts with BOP/C22orf29. Interacts with ING4 (By similarity). {ECO 0000250|UniProtKB Q07440, ECO 0000269|PubMed 10772918, ECO 0000269|PubMed 18812174, ECO 0000269|PubMed 23055042, ECO 0000269|Ref.13, ECO 0000269|Ref.14}. # TISSUE SPECIFICITY B2LA1_HUMAN Seems to be restricted to the hematopoietic compartment. Expressed in peripheral blood, spleen, and bone marrow, at moderate levels in lung, small intestine and testis, at a minimal levels in other tissues. Also found in vascular smooth muscle cells and hematopoietic malignancies. # UCSC uc002bfc human. [Q16548-1] # eggNOG ENOG41123S0 LUCA # eggNOG KOG4728 Eukaryota BLAST swissprot:B2LA1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:B2LA1_HUMAN BioCyc ZFISH:ENSG00000140379-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000140379-MONOMER COXPRESdb 597 http://coxpresdb.jp/data/gene/597.shtml CleanEx HS_BCL2A1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_BCL2A1 DOI 10.1006/bbrc.2000.2537 http://dx.doi.org/10.1006/bbrc.2000.2537 DOI 10.1007/s13238-012-2069-7 http://dx.doi.org/10.1007/s13238-012-2069-7 DOI 10.1016/j.febslet.2008.09.028 http://dx.doi.org/10.1016/j.febslet.2008.09.028 DOI 10.1038/nature04601 http://dx.doi.org/10.1038/nature04601 DOI 10.1038/sj.onc.1200898 http://dx.doi.org/10.1038/sj.onc.1200898 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AC015871 http://www.ebi.ac.uk/ena/data/view/AC015871 EMBL AY234180 http://www.ebi.ac.uk/ena/data/view/AY234180 EMBL BC016281 http://www.ebi.ac.uk/ena/data/view/BC016281 EMBL BT007103 http://www.ebi.ac.uk/ena/data/view/BT007103 EMBL CH471136 http://www.ebi.ac.uk/ena/data/view/CH471136 EMBL CR541937 http://www.ebi.ac.uk/ena/data/view/CR541937 EMBL CR541962 http://www.ebi.ac.uk/ena/data/view/CR541962 EMBL U27467 http://www.ebi.ac.uk/ena/data/view/U27467 EMBL U29680 http://www.ebi.ac.uk/ena/data/view/U29680 EMBL Y09397 http://www.ebi.ac.uk/ena/data/view/Y09397 Ensembl ENST00000267953 http://www.ensembl.org/id/ENST00000267953 Ensembl ENST00000335661 http://www.ensembl.org/id/ENST00000335661 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005741 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005741 GO_function GO:0015267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015267 GO_function GO:0042803 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042803 GO_function GO:0046982 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046982 GO_process GO:0001836 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001836 GO_process GO:0007568 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007568 GO_process GO:0008053 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008053 GO_process GO:0008630 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008630 GO_process GO:0021987 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021987 GO_process GO:0043065 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043065 GO_process GO:0043066 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043066 GO_process GO:0097192 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097192 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007005 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007005 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0007568 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007568 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0061024 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061024 GeneCards BCL2A1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=BCL2A1 GeneID 597 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=597 GeneTree ENSGT00510000048456 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00510000048456 HGNC HGNC:991 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:991 HOGENOM HOG000059278 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000059278&db=HOGENOM6 HOVERGEN HBG004840 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG004840&db=HOVERGEN InParanoid Q16548 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q16548 IntAct Q16548 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q16548* InterPro IPR002475 http://www.ebi.ac.uk/interpro/entry/IPR002475 InterPro IPR013282 http://www.ebi.ac.uk/interpro/entry/IPR013282 InterPro IPR020717 http://www.ebi.ac.uk/interpro/entry/IPR020717 InterPro IPR020726 http://www.ebi.ac.uk/interpro/entry/IPR020726 InterPro IPR026298 http://www.ebi.ac.uk/interpro/entry/IPR026298 Jabion 597 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=597 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Gene hsa:597 http://www.genome.jp/dbget-bin/www_bget?hsa:597 KEGG_Orthology KO:K02162 http://www.genome.jp/dbget-bin/www_bget?KO:K02162 KEGG_Pathway ko04064 http://www.genome.jp/kegg-bin/show_pathway?ko04064 KEGG_Pathway ko05202 http://www.genome.jp/kegg-bin/show_pathway?ko05202 MIM 601056 http://www.ncbi.nlm.nih.gov/omim/601056 MINT MINT-89617 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-89617 OMA ENTAEWI http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=ENTAEWI OrthoDB EOG091G0N5N http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0N5N PANTHER PTHR11256 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11256 PANTHER PTHR11256:SF10 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11256:SF10 PDB 2VM6 http://www.ebi.ac.uk/pdbe-srv/view/entry/2VM6 PDB 3I1H http://www.ebi.ac.uk/pdbe-srv/view/entry/3I1H PDB 3MQP http://www.ebi.ac.uk/pdbe-srv/view/entry/3MQP PDB 4ZEQ http://www.ebi.ac.uk/pdbe-srv/view/entry/4ZEQ PDBsum 2VM6 http://www.ebi.ac.uk/pdbsum/2VM6 PDBsum 3I1H http://www.ebi.ac.uk/pdbsum/3I1H PDBsum 3MQP http://www.ebi.ac.uk/pdbsum/3MQP PDBsum 4ZEQ http://www.ebi.ac.uk/pdbsum/4ZEQ PRINTS PR01862 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01862 PRINTS PR01867 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01867 PROSITE PS01080 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS01080 PROSITE PS01258 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS01258 PROSITE PS50062 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50062 PSORT swissprot:B2LA1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:B2LA1_HUMAN PSORT-B swissprot:B2LA1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:B2LA1_HUMAN PSORT2 swissprot:B2LA1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:B2LA1_HUMAN Pfam PF00452 http://pfam.xfam.org/family/PF00452 PharmGKB PA25303 http://www.pharmgkb.org/do/serve?objId=PA25303&objCls=Gene Phobius swissprot:B2LA1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:B2LA1_HUMAN PhylomeDB Q16548 http://phylomedb.org/?seqid=Q16548 ProteinModelPortal Q16548 http://www.proteinmodelportal.org/query/uniprot/Q16548 PubMed 10772918 http://www.ncbi.nlm.nih.gov/pubmed/10772918 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16572171 http://www.ncbi.nlm.nih.gov/pubmed/16572171 PubMed 18812174 http://www.ncbi.nlm.nih.gov/pubmed/18812174 PubMed 23055042 http://www.ncbi.nlm.nih.gov/pubmed/23055042 PubMed 7478596 http://www.ncbi.nlm.nih.gov/pubmed/7478596 PubMed 8605321 http://www.ncbi.nlm.nih.gov/pubmed/8605321 PubMed 9050999 http://www.ncbi.nlm.nih.gov/pubmed/9050999 RefSeq NP_001108207 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001108207 RefSeq NP_004040 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004040 SMR Q16548 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q16548 STRING 9606.ENSP00000267953 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000267953&targetmode=cogs UCSC uc002bfc http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002bfc&org=rat UniGene Hs.227817 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.227817 UniProtKB B2LA1_HUMAN http://www.uniprot.org/uniprot/B2LA1_HUMAN UniProtKB-AC Q16548 http://www.uniprot.org/uniprot/Q16548 charge swissprot:B2LA1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:B2LA1_HUMAN eggNOG ENOG41123S0 http://eggnogapi.embl.de/nog_data/html/tree/ENOG41123S0 eggNOG KOG4728 http://eggnogapi.embl.de/nog_data/html/tree/KOG4728 epestfind swissprot:B2LA1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:B2LA1_HUMAN garnier swissprot:B2LA1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:B2LA1_HUMAN helixturnhelix swissprot:B2LA1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:B2LA1_HUMAN hmoment swissprot:B2LA1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:B2LA1_HUMAN iep swissprot:B2LA1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:B2LA1_HUMAN inforesidue swissprot:B2LA1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:B2LA1_HUMAN neXtProt NX_Q16548 http://www.nextprot.org/db/entry/NX_Q16548 octanol swissprot:B2LA1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:B2LA1_HUMAN pepcoil swissprot:B2LA1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:B2LA1_HUMAN pepdigest swissprot:B2LA1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:B2LA1_HUMAN pepinfo swissprot:B2LA1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:B2LA1_HUMAN pepnet swissprot:B2LA1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:B2LA1_HUMAN pepstats swissprot:B2LA1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:B2LA1_HUMAN pepwheel swissprot:B2LA1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:B2LA1_HUMAN pepwindow swissprot:B2LA1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:B2LA1_HUMAN sigcleave swissprot:B2LA1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:B2LA1_HUMAN ## Database ID URL or Descriptions # BioGrid 106858 8 # CDD cd00333 MIP # DISEASE AQP5_HUMAN Keratoderma, palmoplantar, Bothnian type (PPKB) [MIM 600231] A dermatological disorder characterized by diffuse non-epidermolytic hyperkeratosis of the skin of palms and soles. PPKB is frequently complicated by fungal infections. {ECO 0000269|PubMed 23830519}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DOMAIN AQP5_HUMAN Aquaporins contain two tandem repeats each containing three membrane-spanning domains and a pore-forming loop with the signature motif Asn-Pro-Ala (NPA). # Ensembl ENST00000293599 ENSP00000293599; ENSG00000161798 # FUNCTION AQP5_HUMAN Forms a water-specific channel. Implicated in the generation of saliva, tears, and pulmonary secretions. Required for TRPV4 activation by hypotonicity (PubMed 16571723). Together with TRPV4, controls regulatory volume decrease in salivary epithelial cells (PubMed 16571723). {ECO 0000269|PubMed 16571723}. # GO_component GO:0005783 endoplasmic reticulum; IEA:Ensembl. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0005902 microvillus; IEA:Ensembl. # GO_component GO:0009925 basal plasma membrane; IEA:Ensembl. # GO_component GO:0016324 apical plasma membrane; IDA:UniProtKB. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0015250 water channel activity; IDA:UniProtKB. # GO_function GO:0015254 glycerol channel activity; IBA:GO_Central. # GO_process GO:0006833 water transport; TAS:Reactome. # GO_process GO:0007588 excretion; TAS:ProtInc. # GO_process GO:0009992 cellular water homeostasis; IBA:GO_Central. # GO_process GO:0015670 carbon dioxide transport; IDA:UniProtKB. # GO_process GO:0030157 pancreatic juice secretion; IEP:UniProtKB. # GO_process GO:0034220 ion transmembrane transport; IBA:GO_Central. # GO_process GO:0042476 odontogenesis; IEP:UniProtKB. # GO_process GO:0046541 saliva secretion; IEA:Ensembl. # GO_process GO:0048593 camera-type eye morphogenesis; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.20.1080.10 -; 1. # Genevisible P55064 HS # HGNC HGNC:638 AQP5 # INTERACTION AQP5_HUMAN Q6IBN1 HNRPK; NbExp=3; IntAct=EBI-746103, EBI-3440248; Q15323 KRT31; NbExp=3; IntAct=EBI-746103, EBI-948001; Q6A162 KRT40; NbExp=3; IntAct=EBI-746103, EBI-10171697; Q99750 MDFI; NbExp=3; IntAct=EBI-746103, EBI-724076; Q7Z3S9 NOTCH2NL; NbExp=3; IntAct=EBI-746103, EBI-945833; # IntAct P55064 8 # InterPro IPR000425 MIP # InterPro IPR022357 MIP_CS # InterPro IPR023271 Aquaporin-like # InterPro IPR023276 Aquaporin_5 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Disease H01673 [Skin and connective tissue disease] Palmoplantar keratoderma # KEGG_Pathway ko04970 Salivary secretion # MIM 600231 phenotype # MIM 600442 gene # Organism AQP5_HUMAN Homo sapiens (Human) # Orphanet 2337 Non-epidermolytic palmoplantar keratoderma # PANTHER PTHR19139 PTHR19139 # PDB 3D9S X-ray; 2.00 A; A/B/C/D=2-265 # PDB 5C5X X-ray; 2.60 A; A/B/C/D/E/F/G/H=1-245 # PDB 5DYE X-ray; 3.50 A; A/B/C/D=1-265 # PRINTS PR00783 MINTRINSICP # PRINTS PR02017 AQUAPORIN5 # PROSITE PS00221 MIP # Pfam PF00230 MIP # Proteomes UP000005640 Chromosome 12 # Reactome R-HSA-432047 Passive transport by Aquaporins # RecName AQP5_HUMAN Aquaporin-5 # RefSeq NP_001642 NM_001651.3 # SIMILARITY Belongs to the MIP/aquaporin (TC 1.A.8) family. {ECO 0000305}. # SUBCELLULAR LOCATION AQP5_HUMAN Apical cell membrane {ECO 0000250|UniProtKB Q9WTY4}; Multi-pass membrane protein {ECO 0000255}. # SUBUNIT Interacts with TRPV4; the interaction is probably indirect and regulates TRPV4 activation by hypotonicity. {ECO:0000269|PubMed 16571723}. # SUPFAM SSF81338 SSF81338 # TCDB 1.A.8.8 the major intrinsic protein (mip) family # TIGRFAMs TIGR00861 MIP # UCSC uc001rvo human # eggNOG COG0580 LUCA # eggNOG KOG0223 Eukaryota BLAST swissprot:AQP5_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:AQP5_HUMAN BioCyc ZFISH:ENSG00000161798-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000161798-MONOMER COXPRESdb 362 http://coxpresdb.jp/data/gene/362.shtml CleanEx HS_AQP5 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_AQP5 DIP DIP-46292N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-46292N DOI 10.1016/j.ajhg.2013.06.008 http://dx.doi.org/10.1016/j.ajhg.2013.06.008 DOI 10.1074/jbc.271.15.8599 http://dx.doi.org/10.1074/jbc.271.15.8599 DOI 10.1074/jbc.M600549200 http://dx.doi.org/10.1074/jbc.M600549200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL BC032946 http://www.ebi.ac.uk/ena/data/view/BC032946 EMBL CR541989 http://www.ebi.ac.uk/ena/data/view/CR541989 EMBL CR542022 http://www.ebi.ac.uk/ena/data/view/CR542022 EMBL U46566 http://www.ebi.ac.uk/ena/data/view/U46566 EMBL U46567 http://www.ebi.ac.uk/ena/data/view/U46567 EMBL U46568 http://www.ebi.ac.uk/ena/data/view/U46568 EMBL U46569 http://www.ebi.ac.uk/ena/data/view/U46569 Ensembl ENST00000293599 http://www.ensembl.org/id/ENST00000293599 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0005902 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005902 GO_component GO:0009925 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009925 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0015250 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015250 GO_function GO:0015254 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015254 GO_process GO:0006833 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006833 GO_process GO:0007588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007588 GO_process GO:0009992 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009992 GO_process GO:0015670 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015670 GO_process GO:0030157 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030157 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0042476 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042476 GO_process GO:0046541 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046541 GO_process GO:0048593 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048593 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.20.1080.10 http://www.cathdb.info/version/latest/superfamily/1.20.1080.10 GeneCards AQP5 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=AQP5 GeneID 362 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=362 GeneTree ENSGT00760000119223 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119223 HGNC HGNC:638 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:638 HOGENOM HOG000288286 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000288286&db=HOGENOM6 HOVERGEN HBG000312 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG000312&db=HOVERGEN HPA HPA065008 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA065008 InParanoid P55064 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P55064 IntAct P55064 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P55064* InterPro IPR000425 http://www.ebi.ac.uk/interpro/entry/IPR000425 InterPro IPR022357 http://www.ebi.ac.uk/interpro/entry/IPR022357 InterPro IPR023271 http://www.ebi.ac.uk/interpro/entry/IPR023271 InterPro IPR023276 http://www.ebi.ac.uk/interpro/entry/IPR023276 Jabion 362 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=362 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H01673 http://www.genome.jp/dbget-bin/www_bget?H01673 KEGG_Gene hsa:362 http://www.genome.jp/dbget-bin/www_bget?hsa:362 KEGG_Orthology KO:K09867 http://www.genome.jp/dbget-bin/www_bget?KO:K09867 KEGG_Pathway ko04970 http://www.genome.jp/kegg-bin/show_pathway?ko04970 MIM 600231 http://www.ncbi.nlm.nih.gov/omim/600231 MIM 600442 http://www.ncbi.nlm.nih.gov/omim/600442 MINT MINT-1442891 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1442891 OMA NISGCHV http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=NISGCHV Orphanet 2337 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=2337 OrthoDB EOG091G166T http://cegg.unige.ch/orthodb/results?searchtext=EOG091G166T PANTHER PTHR19139 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR19139 PDB 3D9S http://www.ebi.ac.uk/pdbe-srv/view/entry/3D9S PDB 5C5X http://www.ebi.ac.uk/pdbe-srv/view/entry/5C5X PDB 5DYE http://www.ebi.ac.uk/pdbe-srv/view/entry/5DYE PDBsum 3D9S http://www.ebi.ac.uk/pdbsum/3D9S PDBsum 5C5X http://www.ebi.ac.uk/pdbsum/5C5X PDBsum 5DYE http://www.ebi.ac.uk/pdbsum/5DYE PRINTS PR00783 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00783 PRINTS PR02017 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR02017 PROSITE PS00221 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00221 PSORT swissprot:AQP5_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:AQP5_HUMAN PSORT-B swissprot:AQP5_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:AQP5_HUMAN PSORT2 swissprot:AQP5_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:AQP5_HUMAN Pfam PF00230 http://pfam.xfam.org/family/PF00230 PharmGKB PA24923 http://www.pharmgkb.org/do/serve?objId=PA24923&objCls=Gene Phobius swissprot:AQP5_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:AQP5_HUMAN PhylomeDB P55064 http://phylomedb.org/?seqid=P55064 ProteinModelPortal P55064 http://www.proteinmodelportal.org/query/uniprot/P55064 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16571723 http://www.ncbi.nlm.nih.gov/pubmed/16571723 PubMed 23830519 http://www.ncbi.nlm.nih.gov/pubmed/23830519 PubMed 8621489 http://www.ncbi.nlm.nih.gov/pubmed/8621489 Reactome R-HSA-432047 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-432047 RefSeq NP_001642 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001642 SMR P55064 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P55064 STRING 9606.ENSP00000293599 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000293599&targetmode=cogs SUPFAM SSF81338 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81338 TCDB 1.A.8.8 http://www.tcdb.org/search/result.php?tc=1.A.8.8 TIGRFAMs TIGR00861 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00861 UCSC uc001rvo http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001rvo&org=rat UniGene Hs.298023 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.298023 UniProtKB AQP5_HUMAN http://www.uniprot.org/uniprot/AQP5_HUMAN UniProtKB-AC P55064 http://www.uniprot.org/uniprot/P55064 charge swissprot:AQP5_HUMAN http://rest.g-language.org/emboss/charge/swissprot:AQP5_HUMAN eggNOG COG0580 http://eggnogapi.embl.de/nog_data/html/tree/COG0580 eggNOG KOG0223 http://eggnogapi.embl.de/nog_data/html/tree/KOG0223 epestfind swissprot:AQP5_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:AQP5_HUMAN garnier swissprot:AQP5_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:AQP5_HUMAN helixturnhelix swissprot:AQP5_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:AQP5_HUMAN hmoment swissprot:AQP5_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:AQP5_HUMAN iep swissprot:AQP5_HUMAN http://rest.g-language.org/emboss/iep/swissprot:AQP5_HUMAN inforesidue swissprot:AQP5_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:AQP5_HUMAN neXtProt NX_P55064 http://www.nextprot.org/db/entry/NX_P55064 octanol swissprot:AQP5_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:AQP5_HUMAN pepcoil swissprot:AQP5_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:AQP5_HUMAN pepdigest swissprot:AQP5_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:AQP5_HUMAN pepinfo swissprot:AQP5_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:AQP5_HUMAN pepnet swissprot:AQP5_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:AQP5_HUMAN pepstats swissprot:AQP5_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:AQP5_HUMAN pepwheel swissprot:AQP5_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:AQP5_HUMAN pepwindow swissprot:AQP5_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:AQP5_HUMAN sigcleave swissprot:AQP5_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:AQP5_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S39AD_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96H72-1; Sequence=Displayed; Name=2; IsoId=Q96H72-2; Sequence=VSP_029819; # AltName S39AD_HUMAN LIV-1 subfamily of ZIP zinc transporter 9 # AltName S39AD_HUMAN Solute carrier family 39 member 13 # AltName S39AD_HUMAN Zrt- and Irt-like protein 13 # BioGrid 124808 4 # CCDS CCDS44592 -. [Q96H72-1] # CCDS CCDS7934 -. [Q96H72-2] # ChiTaRS SLC39A13 human # DISEASE S39AD_HUMAN Ehlers-Danlos syndrome-like spondylocheirodysplasia (SCD- EDS) [MIM 612350] Spondylocheiro dysplastic form of Ehlers-Danlos syndrome. The syndrome consists of a generalized skeletal dysplasia involving mainly the spine (spondylo) and striking clinical abnormalities of the hands (cheiro) in addition to the EDS-like features. Clinical features included postnatal growth retardation, moderate short stature, protuberant eyes with bluish sclerae, hands with finely wrinkled palms, atrophy of the thenar muscles, and tapering fingers. Patients have thin, hyperelastic skin and hypermobile small joints consistent with an Ehlers- Danlos-like phenotype. Radiologic features included mild to moderate platyspondyly, mild to moderate osteopenia of the spine, small ileum, flat proximal femoral epiphyses, short, wide femoral necks, and broad metaphyses (elbows, knees, wrists, and interphalangeal joints). {ECO 0000269|PubMed 18513683}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000354884 ENSP00000346956; ENSG00000165915. [Q96H72-2] # Ensembl ENST00000362021 ENSP00000354689; ENSG00000165915. [Q96H72-1] # ExpressionAtlas Q96H72 baseline and differential # FUNCTION S39AD_HUMAN Acts as a zinc-influx transporter. {ECO 0000269|PubMed 21917916}. # GO_component GO:0005794 Golgi apparatus; IDA:BHF-UCL. # GO_component GO:0016021 integral component of membrane; IDA:BHF-UCL. # GO_component GO:0030173 integral component of Golgi membrane; IC:BHF-UCL. # GO_component GO:0048471 perinuclear region of cytoplasm; ISS:BHF-UCL. # GO_function GO:0005385 zinc ion transmembrane transporter activity; IDA:BHF-UCL. # GO_function GO:0042803 protein homodimerization activity; IPI:BHF-UCL. # GO_process GO:0006882 cellular zinc ion homeostasis; IDA:BHF-UCL. # GO_process GO:0061448 connective tissue development; IMP:BHF-UCL. # GO_process GO:0071577 zinc II ion transmembrane transport; IDA:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005794 Golgi apparatus # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0055085 transmembrane transport # Genevisible Q96H72 HS # HGNC HGNC:20859 SLC39A13 # INTERACTION S39AD_HUMAN Q04864 REL; NbExp=3; IntAct=EBI-10287091, EBI-307352; P15884 TCF4; NbExp=3; IntAct=EBI-10287091, EBI-533224; # IntAct Q96H72 3 # InterPro IPR003689 ZIP # KEGG_Brite ko02001 Solute carrier family # KEGG_Disease H00802 [Inherited metabolic disease; Connective tissue disease] EDS-like spondylocheiro dysplasia (SCD-EDS) # MIM 608735 gene # MIM 612350 phenotype # Organism S39AD_HUMAN Homo sapiens (Human) # Orphanet 157965 Ehlers-Danlos syndrome, spondylocheirodysplastic type # Pfam PF02535 Zip; 2 # Proteomes UP000005640 Chromosome 11 # RecName S39AD_HUMAN Zinc transporter ZIP13 # RefSeq NP_001121697 NM_001128225.2 # RefSeq NP_001317174 NM_001330245.1 # RefSeq NP_689477 NM_152264.4 # RefSeq XP_011518769 XM_011520467.1. [Q96H72-1] # RefSeq XP_011518770 XM_011520468.2. [Q96H72-1] # RefSeq XP_016874029 XM_017018540.1. [Q96H72-2] # SEQUENCE CAUTION Sequence=BAC05365.1; Type=Frameshift; Positions=314; Evidence={ECO 0000305}; # SIMILARITY Belongs to the ZIP transporter (TC 2.A.5) family. {ECO 0000305}. # SUBCELLULAR LOCATION S39AD_HUMAN Golgi apparatus membrane {ECO 0000269|PubMed 21917916}; Multi-pass membrane protein {ECO 0000269|PubMed 21917916}. # SUBUNIT Homodimer. {ECO:0000305|PubMed 21917916}. # TCDB 2.A.5.4.12 the zinc (zn(2+))-iron (fe(2+)) permease (zip) family # UCSC uc001nff human. [Q96H72-1] # eggNOG COG0428 LUCA # eggNOG KOG2694 Eukaryota BLAST swissprot:S39AD_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S39AD_HUMAN COXPRESdb 91252 http://coxpresdb.jp/data/gene/91252.shtml CleanEx HS_SLC39A13 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC39A13 DOI 10.1016/j.ajhg.2008.05.001 http://dx.doi.org/10.1016/j.ajhg.2008.05.001 DOI 10.1038/nature04632 http://dx.doi.org/10.1038/nature04632 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.M111.256784 http://dx.doi.org/10.1074/jbc.M111.256784 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 EMBL AC090559 http://www.ebi.ac.uk/ena/data/view/AC090559 EMBL AK098651 http://www.ebi.ac.uk/ena/data/view/AK098651 EMBL AL133581 http://www.ebi.ac.uk/ena/data/view/AL133581 EMBL BC008853 http://www.ebi.ac.uk/ena/data/view/BC008853 EMBL BC019016 http://www.ebi.ac.uk/ena/data/view/BC019016 EMBL CH471064 http://www.ebi.ac.uk/ena/data/view/CH471064 EMBL CH471064 http://www.ebi.ac.uk/ena/data/view/CH471064 EMBL CH471064 http://www.ebi.ac.uk/ena/data/view/CH471064 EMBL CH471064 http://www.ebi.ac.uk/ena/data/view/CH471064 EMBL CH471064 http://www.ebi.ac.uk/ena/data/view/CH471064 EMBL CH471064 http://www.ebi.ac.uk/ena/data/view/CH471064 Ensembl ENST00000354884 http://www.ensembl.org/id/ENST00000354884 Ensembl ENST00000362021 http://www.ensembl.org/id/ENST00000362021 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0030173 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030173 GO_component GO:0048471 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048471 GO_function GO:0005385 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005385 GO_function GO:0042803 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042803 GO_process GO:0006882 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006882 GO_process GO:0061448 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061448 GO_process GO:0071577 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071577 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC39A13 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC39A13 GeneID 91252 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=91252 GeneTree ENSGT00760000119115 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119115 H-InvDB HIX0009615 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0009615 HGNC HGNC:20859 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:20859 HOGENOM HOG000185308 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000185308&db=HOGENOM6 HOVERGEN HBG001037 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG001037&db=HOVERGEN HPA HPA043971 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA043971 InParanoid Q96H72 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q96H72 IntAct Q96H72 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q96H72* InterPro IPR003689 http://www.ebi.ac.uk/interpro/entry/IPR003689 Jabion 91252 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=91252 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Disease H00802 http://www.genome.jp/dbget-bin/www_bget?H00802 KEGG_Gene hsa:91252 http://www.genome.jp/dbget-bin/www_bget?hsa:91252 KEGG_Orthology KO:K14719 http://www.genome.jp/dbget-bin/www_bget?KO:K14719 MIM 608735 http://www.ncbi.nlm.nih.gov/omim/608735 MIM 612350 http://www.ncbi.nlm.nih.gov/omim/612350 OMA EEDDPWH http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=EEDDPWH Orphanet 157965 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=157965 OrthoDB EOG091G0GD1 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0GD1 PSORT swissprot:S39AD_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S39AD_HUMAN PSORT-B swissprot:S39AD_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S39AD_HUMAN PSORT2 swissprot:S39AD_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S39AD_HUMAN Pfam PF02535 http://pfam.xfam.org/family/PF02535 PharmGKB PA134948414 http://www.pharmgkb.org/do/serve?objId=PA134948414&objCls=Gene Phobius swissprot:S39AD_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S39AD_HUMAN PhylomeDB Q96H72 http://phylomedb.org/?seqid=Q96H72 ProteinModelPortal Q96H72 http://www.proteinmodelportal.org/query/uniprot/Q96H72 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16554811 http://www.ncbi.nlm.nih.gov/pubmed/16554811 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 PubMed 18513683 http://www.ncbi.nlm.nih.gov/pubmed/18513683 PubMed 21917916 http://www.ncbi.nlm.nih.gov/pubmed/21917916 RefSeq NP_001121697 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001121697 RefSeq NP_001317174 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001317174 RefSeq NP_689477 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_689477 RefSeq XP_011518769 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011518769 RefSeq XP_011518770 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011518770 RefSeq XP_016874029 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016874029 STRING 9606.ENSP00000354689 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000354689&targetmode=cogs TCDB 2.A.5.4.12 http://www.tcdb.org/search/result.php?tc=2.A.5.4.12 UCSC uc001nff http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001nff&org=rat UniGene Hs.523664 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.523664 UniProtKB S39AD_HUMAN http://www.uniprot.org/uniprot/S39AD_HUMAN UniProtKB-AC Q96H72 http://www.uniprot.org/uniprot/Q96H72 charge swissprot:S39AD_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S39AD_HUMAN eggNOG COG0428 http://eggnogapi.embl.de/nog_data/html/tree/COG0428 eggNOG KOG2694 http://eggnogapi.embl.de/nog_data/html/tree/KOG2694 epestfind swissprot:S39AD_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S39AD_HUMAN garnier swissprot:S39AD_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S39AD_HUMAN helixturnhelix swissprot:S39AD_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S39AD_HUMAN hmoment swissprot:S39AD_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S39AD_HUMAN iep swissprot:S39AD_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S39AD_HUMAN inforesidue swissprot:S39AD_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S39AD_HUMAN neXtProt NX_Q96H72 http://www.nextprot.org/db/entry/NX_Q96H72 octanol swissprot:S39AD_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S39AD_HUMAN pepcoil swissprot:S39AD_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S39AD_HUMAN pepdigest swissprot:S39AD_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S39AD_HUMAN pepinfo swissprot:S39AD_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S39AD_HUMAN pepnet swissprot:S39AD_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S39AD_HUMAN pepstats swissprot:S39AD_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S39AD_HUMAN pepwheel swissprot:S39AD_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S39AD_HUMAN pepwindow swissprot:S39AD_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S39AD_HUMAN sigcleave swissprot:S39AD_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S39AD_HUMAN ## Database ID URL or Descriptions # AltName COX5B_HUMAN Cytochrome c oxidase polypeptide Vb # BioGrid 107722 39 # CDD cd00924 Cyt_c_Oxidase_Vb # ChiTaRS COX5B human # DrugBank DB02659 Cholic Acid # Ensembl ENST00000258424 ENSP00000258424; ENSG00000135940 # FUNCTION COX5B_HUMAN This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport. # GO_component GO:0005739 mitochondrion; IDA:HPA. # GO_component GO:0005743 mitochondrial inner membrane; TAS:Reactome. # GO_component GO:0005751 mitochondrial respiratory chain complex IV; IBA:GO_Central. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0004129 cytochrome-c oxidase activity; TAS:ProtInc. # GO_function GO:0046872 metal ion binding; IEA:UniProtKB-KW. # GO_process GO:0006123 mitochondrial electron transport, cytochrome c to oxygen; IBA:GO_Central. # GO_process GO:0007585 respiratory gaseous exchange; TAS:ProtInc. # GO_process GO:0042776 mitochondrial ATP synthesis coupled proton transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005739 mitochondrion # GOslim_component GO:0043226 organelle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0016491 oxidoreductase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006091 generation of precursor metabolites and energy # GOslim_process GO:0008150 biological_process # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0044281 small molecule metabolic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 2.60.11.10 -; 1. # Genevisible P10606 HS # HGNC HGNC:2269 COX5B # INTERACTION COX5B_HUMAN O14503 BHLHE40; NbExp=3; IntAct=EBI-1053725, EBI-711810; Q8IYA8 CCDC36; NbExp=4; IntAct=EBI-1053725, EBI-8638439; Q01850 CDR2; NbExp=5; IntAct=EBI-1053725, EBI-1181367; P19012 KRT15; NbExp=3; IntAct=EBI-1053725, EBI-739566; Q15323 KRT31; NbExp=3; IntAct=EBI-1053725, EBI-948001; Q8ND90 PNMA1; NbExp=3; IntAct=EBI-1053725, EBI-302345; Q9UBB9 TFIP11; NbExp=3; IntAct=EBI-1053725, EBI-1105213; Q13077 TRAF1; NbExp=3; IntAct=EBI-1053725, EBI-359224; P36406 TRIM23; NbExp=4; IntAct=EBI-1053725, EBI-740098; # IntAct P10606 28 # InterPro IPR002124 Cyt_c_oxidase_su5b # InterPro IPR020893 Cyt_c_oxidase_su5b_Zn_BS # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Pathway ko00190 Oxidative phosphorylation # KEGG_Pathway ko04260 Cardiac muscle contraction # KEGG_Pathway ko05010 Alzheimer's disease # KEGG_Pathway ko05012 Parkinson's disease # KEGG_Pathway ko05016 Huntington's disease # MIM 123866 gene # Organism COX5B_HUMAN Homo sapiens (Human) # PANTHER PTHR10122 PTHR10122 # PIR JT0324 OTHU5B # PROSITE PS00848 COX5B_1 # PROSITE PS51359 COX5B_2 # Pfam PF01215 COX5B # ProDom PD007270 Cyt_c_oxidase_su5b # Proteomes UP000005640 Chromosome 2 # Reactome R-HSA-5628897 TP53 Regulates Metabolic Genes # Reactome R-HSA-611105 Respiratory electron transport # RecName COX5B_HUMAN Cytochrome c oxidase subunit 5B, mitochondrial # RefSeq NP_001853 NM_001862.2 # SIMILARITY Belongs to the cytochrome c oxidase subunit 5B family. {ECO 0000305}. # SUBCELLULAR LOCATION COX5B_HUMAN Mitochondrion inner membrane. # TCDB 3.D.4.11 the proton-translocating cytochrome oxidase (cox) superfamily # UCSC uc002sya human # eggNOG ENOG4111XEM LUCA # eggNOG KOG3352 Eukaryota BLAST swissprot:COX5B_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:COX5B_HUMAN BioCyc ZFISH:HS06090-MONOMER http://biocyc.org/getid?id=ZFISH:HS06090-MONOMER COXPRESdb 1329 http://coxpresdb.jp/data/gene/1329.shtml CleanEx HS_COX5B http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_COX5B DOI 10.1002/elps.11501401181 http://dx.doi.org/10.1002/elps.11501401181 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1006/abbi.1996.0376 http://dx.doi.org/10.1006/abbi.1996.0376 DOI 10.1016/0378-1119(88)90411-8 http://dx.doi.org/10.1016/0378-1119(88)90411-8 DOI 10.1016/0888-7543(91)90476-U http://dx.doi.org/10.1016/0888-7543(91)90476-U DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DrugBank DB02659 http://www.drugbank.ca/drugs/DB02659 EMBL AC017099 http://www.ebi.ac.uk/ena/data/view/AC017099 EMBL BC006229 http://www.ebi.ac.uk/ena/data/view/BC006229 EMBL BT006742 http://www.ebi.ac.uk/ena/data/view/BT006742 EMBL M19961 http://www.ebi.ac.uk/ena/data/view/M19961 EMBL M59250 http://www.ebi.ac.uk/ena/data/view/M59250 EMBL U41284 http://www.ebi.ac.uk/ena/data/view/U41284 Ensembl ENST00000258424 http://www.ensembl.org/id/ENST00000258424 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0005751 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005751 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0004129 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004129 GO_function GO:0046872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046872 GO_process GO:0006123 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006123 GO_process GO:0007585 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007585 GO_process GO:0042776 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042776 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0016491 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016491 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006091 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 2.60.11.10 http://www.cathdb.info/version/latest/superfamily/2.60.11.10 GeneCards COX5B http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=COX5B GeneID 1329 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=1329 GeneTree ENSGT00390000011010 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000011010 HGNC HGNC:2269 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:2269 HOGENOM HOG000184129 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000184129&db=HOGENOM6 HOVERGEN HBG051089 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG051089&db=HOVERGEN HPA HPA034517 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA034517 InParanoid P10606 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P10606 IntAct P10606 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P10606* InterPro IPR002124 http://www.ebi.ac.uk/interpro/entry/IPR002124 InterPro IPR020893 http://www.ebi.ac.uk/interpro/entry/IPR020893 Jabion 1329 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=1329 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00002 http://www.genome.jp/dbget-bin/www_bget?ko00002 KEGG_Gene hsa:1329 http://www.genome.jp/dbget-bin/www_bget?hsa:1329 KEGG_Orthology KO:K02265 http://www.genome.jp/dbget-bin/www_bget?KO:K02265 KEGG_Pathway ko00190 http://www.genome.jp/kegg-bin/show_pathway?ko00190 KEGG_Pathway ko04260 http://www.genome.jp/kegg-bin/show_pathway?ko04260 KEGG_Pathway ko05010 http://www.genome.jp/kegg-bin/show_pathway?ko05010 KEGG_Pathway ko05012 http://www.genome.jp/kegg-bin/show_pathway?ko05012 KEGG_Pathway ko05016 http://www.genome.jp/kegg-bin/show_pathway?ko05016 MIM 123866 http://www.ncbi.nlm.nih.gov/omim/123866 MINT MINT-3007350 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-3007350 OMA PYNMLPP http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=PYNMLPP OrthoDB EOG091G0S9L http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0S9L PANTHER PTHR10122 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10122 PROSITE PS00848 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00848 PROSITE PS51359 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51359 PSORT swissprot:COX5B_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:COX5B_HUMAN PSORT-B swissprot:COX5B_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:COX5B_HUMAN PSORT2 swissprot:COX5B_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:COX5B_HUMAN Pfam PF01215 http://pfam.xfam.org/family/PF01215 PharmGKB PA26786 http://www.pharmgkb.org/do/serve?objId=PA26786&objCls=Gene Phobius swissprot:COX5B_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:COX5B_HUMAN PhylomeDB P10606 http://phylomedb.org/?seqid=P10606 ProteinModelPortal P10606 http://www.proteinmodelportal.org/query/uniprot/P10606 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 PubMed 1646156 http://www.ncbi.nlm.nih.gov/pubmed/1646156 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 2840351 http://www.ncbi.nlm.nih.gov/pubmed/2840351 PubMed 8313870 http://www.ncbi.nlm.nih.gov/pubmed/8313870 PubMed 8806766 http://www.ncbi.nlm.nih.gov/pubmed/8806766 Reactome R-HSA-5628897 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5628897 Reactome R-HSA-611105 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-611105 RefSeq NP_001853 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001853 SMR P10606 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P10606 STRING 9606.ENSP00000258424 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000258424&targetmode=cogs SWISS-2DPAGE P10606 http://world-2dpage.expasy.org/swiss-2dpage/protein/ac=P10606 TCDB 3.D.4.11 http://www.tcdb.org/search/result.php?tc=3.D.4.11 UCSC uc002sya http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002sya&org=rat UniGene Hs.1342 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.1342 UniProtKB COX5B_HUMAN http://www.uniprot.org/uniprot/COX5B_HUMAN UniProtKB-AC P10606 http://www.uniprot.org/uniprot/P10606 charge swissprot:COX5B_HUMAN http://rest.g-language.org/emboss/charge/swissprot:COX5B_HUMAN eggNOG ENOG4111XEM http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111XEM eggNOG KOG3352 http://eggnogapi.embl.de/nog_data/html/tree/KOG3352 epestfind swissprot:COX5B_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:COX5B_HUMAN garnier swissprot:COX5B_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:COX5B_HUMAN helixturnhelix swissprot:COX5B_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:COX5B_HUMAN hmoment swissprot:COX5B_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:COX5B_HUMAN iep swissprot:COX5B_HUMAN http://rest.g-language.org/emboss/iep/swissprot:COX5B_HUMAN inforesidue swissprot:COX5B_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:COX5B_HUMAN neXtProt NX_P10606 http://www.nextprot.org/db/entry/NX_P10606 octanol swissprot:COX5B_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:COX5B_HUMAN pepcoil swissprot:COX5B_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:COX5B_HUMAN pepdigest swissprot:COX5B_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:COX5B_HUMAN pepinfo swissprot:COX5B_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:COX5B_HUMAN pepnet swissprot:COX5B_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:COX5B_HUMAN pepstats swissprot:COX5B_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:COX5B_HUMAN pepwheel swissprot:COX5B_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:COX5B_HUMAN pepwindow swissprot:COX5B_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:COX5B_HUMAN sigcleave swissprot:COX5B_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:COX5B_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS ANXA6_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P08133-1; Sequence=Displayed; Name=2; IsoId=P08133-2; Sequence=VSP_045480; Note=No experimental confirmation available.; # AltName ANXA6_HUMAN 67 kDa calelectrin # AltName ANXA6_HUMAN Annexin VI # AltName ANXA6_HUMAN Annexin-6 # AltName ANXA6_HUMAN Calphobindin-II # AltName ANXA6_HUMAN Chromobindin-20 # AltName ANXA6_HUMAN Lipocortin VI # AltName ANXA6_HUMAN Protein III # AltName ANXA6_HUMAN p68 # AltName ANXA6_HUMAN p70 # BioGrid 106806 36 # CCDS CCDS47315 -. [P08133-1] # CCDS CCDS54941 -. [P08133-2] # ChiTaRS ANXA6 human # DOMAIN ANXA6_HUMAN A pair of annexin repeats may form one binding site for calcium and phospholipid. # Ensembl ENST00000354546 ENSP00000346550; ENSG00000197043. [P08133-1] # Ensembl ENST00000523714 ENSP00000430517; ENSG00000197043. [P08133-2] # ExpressionAtlas P08133 baseline and differential # FUNCTION ANXA6_HUMAN May associate with CD21. May regulate the release of Ca(2+) from intracellular stores. # GO_component GO:0005739 mitochondrion; IEA:GOC. # GO_component GO:0005765 lysosomal membrane; IDA:UniProtKB. # GO_component GO:0005925 focal adhesion; IDA:UniProtKB. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0031902 late endosome membrane; IDA:UniProtKB. # GO_component GO:0042470 melanosome; IEA:UniProtKB-SubCell. # GO_component GO:0048471 perinuclear region of cytoplasm; IEA:Ensembl. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0005509 calcium ion binding; IEA:InterPro. # GO_function GO:0005525 GTP binding; IMP:UniProtKB. # GO_function GO:0005544 calcium-dependent phospholipid binding; IDA:UniProtKB. # GO_function GO:0008289 lipid binding; IMP:UniProtKB. # GO_function GO:0015276 ligand-gated ion channel activity; IMP:UniProtKB. # GO_function GO:0015485 cholesterol binding; IDA:UniProtKB. # GO_function GO:0042803 protein homodimerization activity; IMP:UniProtKB. # GO_function GO:0048306 calcium-dependent protein binding; IPI:AgBase. # GO_process GO:0006816 calcium ion transport; IEA:Ensembl. # GO_process GO:0006937 regulation of muscle contraction; IEA:Ensembl. # GO_process GO:0034220 ion transmembrane transport; IMP:UniProtKB. # GO_process GO:0051260 protein homooligomerization; IMP:UniProtKB. # GO_process GO:0051560 mitochondrial calcium ion homeostasis; IEA:Ensembl. # GO_process GO:0097190 apoptotic signaling pathway; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005739 mitochondrion # GOslim_component GO:0031410 cytoplasmic vesicle # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0008289 lipid binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.10.220.10 -; 8. # Genevisible P08133 HS # HGNC HGNC:544 ANXA6 # INDUCTION ANXA6_HUMAN By Epstein-Barr virus (EBV). # IntAct P08133 14 # InterPro IPR001464 Annexin # InterPro IPR002393 AnnexinVI # InterPro IPR018252 Annexin_repeat_CS # InterPro IPR018502 Annexin_repeat # MIM 114070 gene # MISCELLANEOUS ANXA6_HUMAN Seems to bind one calcium ion with high affinity. # Organism ANXA6_HUMAN Homo sapiens (Human) # PANTHER PTHR10502:SF19 PTHR10502:SF19 # PDB 1M9I X-ray; 2.65 A; A=2-673 # PIR JU0032 AQHU68 # PRINTS PR00196 ANNEXIN # PRINTS PR00202 ANNEXINVI # PROSITE PS00223 ANNEXIN; 8 # PTM ANXA6_HUMAN Phosphorylated in response to growth factor stimulation. # Pfam PF00191 Annexin; 8 # Proteomes UP000005640 Chromosome 5 # Reactome R-HSA-445355 Smooth Muscle Contraction # RecName ANXA6_HUMAN Annexin A6 # RefSeq NP_001146 NM_001155.4. [P08133-1] # RefSeq NP_001180473 NM_001193544.1. [P08133-2] # SIMILARITY Belongs to the annexin family. {ECO 0000305}. # SIMILARITY Contains 8 annexin repeats. {ECO 0000305}. # SMART SM00335 ANX; 8 # SUBCELLULAR LOCATION ANXA6_HUMAN Cytoplasm {ECO 0000250}. Melanosome {ECO 0000269|PubMed 17081065}. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. # TCDB 1.A.31.1 the annexin (annexin) family # UCSC uc003ltl human. [P08133-1] # eggNOG ENOG410XPUN LUCA # eggNOG KOG0819 Eukaryota BLAST swissprot:ANXA6_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ANXA6_HUMAN COXPRESdb 309 http://coxpresdb.jp/data/gene/309.shtml CleanEx HS_ANXA6 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ANXA6 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1006/jmbi.1996.0426 http://dx.doi.org/10.1006/jmbi.1996.0426 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/pr060363j http://dx.doi.org/10.1021/pr060363j DOI 10.1038/nature02919 http://dx.doi.org/10.1038/nature02919 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1042/BJ20040647 http://dx.doi.org/10.1042/BJ20040647 DOI 10.1073/pnas.1210303109 http://dx.doi.org/10.1073/pnas.1210303109 DOI 10.1073/pnas.85.3.664 http://dx.doi.org/10.1073/pnas.85.3.664 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1175371 http://dx.doi.org/10.1126/science.1175371 DOI 10.1126/scisignal.2000007 http://dx.doi.org/10.1126/scisignal.2000007 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AC008641 http://www.ebi.ac.uk/ena/data/view/AC008641 EMBL AK126836 http://www.ebi.ac.uk/ena/data/view/AK126836 EMBL AK303078 http://www.ebi.ac.uk/ena/data/view/AK303078 EMBL BC017046 http://www.ebi.ac.uk/ena/data/view/BC017046 EMBL CH471062 http://www.ebi.ac.uk/ena/data/view/CH471062 EMBL CH471062 http://www.ebi.ac.uk/ena/data/view/CH471062 EMBL D00510 http://www.ebi.ac.uk/ena/data/view/D00510 EMBL J03578 http://www.ebi.ac.uk/ena/data/view/J03578 EMBL Y00097 http://www.ebi.ac.uk/ena/data/view/Y00097 Ensembl ENST00000354546 http://www.ensembl.org/id/ENST00000354546 Ensembl ENST00000523714 http://www.ensembl.org/id/ENST00000523714 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005765 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005765 GO_component GO:0005925 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005925 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0031902 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031902 GO_component GO:0042470 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042470 GO_component GO:0048471 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048471 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0005509 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005509 GO_function GO:0005525 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005525 GO_function GO:0005544 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005544 GO_function GO:0008289 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008289 GO_function GO:0015276 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015276 GO_function GO:0015485 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015485 GO_function GO:0042803 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042803 GO_function GO:0048306 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048306 GO_process GO:0006816 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006816 GO_process GO:0006937 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006937 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0051260 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051260 GO_process GO:0051560 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051560 GO_process GO:0097190 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097190 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_component GO:0031410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0008289 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008289 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.10.220.10 http://www.cathdb.info/version/latest/superfamily/1.10.220.10 GeneCards ANXA6 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ANXA6 GeneID 309 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=309 GeneTree ENSGT00760000118972 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118972 HGNC HGNC:544 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:544 HOGENOM HOG000158803 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000158803&db=HOGENOM6 HOVERGEN HBG061815 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG061815&db=HOVERGEN HPA CAB005077 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB005077 HPA HPA002462 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA002462 HPA HPA009650 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA009650 InParanoid P08133 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P08133 IntAct P08133 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P08133* InterPro IPR001464 http://www.ebi.ac.uk/interpro/entry/IPR001464 InterPro IPR002393 http://www.ebi.ac.uk/interpro/entry/IPR002393 InterPro IPR018252 http://www.ebi.ac.uk/interpro/entry/IPR018252 InterPro IPR018502 http://www.ebi.ac.uk/interpro/entry/IPR018502 Jabion 309 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=309 KEGG_Gene hsa:309 http://www.genome.jp/dbget-bin/www_bget?hsa:309 MIM 114070 http://www.ncbi.nlm.nih.gov/omim/114070 MINT MINT-4999263 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-4999263 OMA QRQEICQ http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=QRQEICQ OrthoDB EOG091G0H6H http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0H6H PANTHER PTHR10502:SF19 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10502:SF19 PDB 1M9I http://www.ebi.ac.uk/pdbe-srv/view/entry/1M9I PDBsum 1M9I http://www.ebi.ac.uk/pdbsum/1M9I PRINTS PR00196 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00196 PRINTS PR00202 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00202 PROSITE PS00223 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00223 PSORT swissprot:ANXA6_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ANXA6_HUMAN PSORT-B swissprot:ANXA6_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ANXA6_HUMAN PSORT2 swissprot:ANXA6_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ANXA6_HUMAN Pfam PF00191 http://pfam.xfam.org/family/PF00191 PharmGKB PA24834 http://www.pharmgkb.org/do/serve?objId=PA24834&objCls=Gene Phobius swissprot:ANXA6_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ANXA6_HUMAN PhylomeDB P08133 http://phylomedb.org/?seqid=P08133 ProteinModelPortal P08133 http://www.proteinmodelportal.org/query/uniprot/P08133 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15242332 http://www.ncbi.nlm.nih.gov/pubmed/15242332 PubMed 15372022 http://www.ncbi.nlm.nih.gov/pubmed/15372022 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 17081065 http://www.ncbi.nlm.nih.gov/pubmed/17081065 PubMed 19608861 http://www.ncbi.nlm.nih.gov/pubmed/19608861 PubMed 19690332 http://www.ncbi.nlm.nih.gov/pubmed/19690332 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 2139657 http://www.ncbi.nlm.nih.gov/pubmed/2139657 PubMed 22814378 http://www.ncbi.nlm.nih.gov/pubmed/22814378 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 2528541 http://www.ncbi.nlm.nih.gov/pubmed/2528541 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 2963335 http://www.ncbi.nlm.nih.gov/pubmed/2963335 PubMed 3258820 http://www.ncbi.nlm.nih.gov/pubmed/3258820 PubMed 8709144 http://www.ncbi.nlm.nih.gov/pubmed/8709144 Reactome R-HSA-445355 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-445355 RefSeq NP_001146 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001146 RefSeq NP_001180473 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001180473 SMART SM00335 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00335 SMR P08133 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P08133 STRING 9606.ENSP00000346550 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000346550&targetmode=cogs TCDB 1.A.31.1 http://www.tcdb.org/search/result.php?tc=1.A.31.1 UCSC uc003ltl http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003ltl&org=rat UniGene Hs.412117 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.412117 UniProtKB ANXA6_HUMAN http://www.uniprot.org/uniprot/ANXA6_HUMAN UniProtKB-AC P08133 http://www.uniprot.org/uniprot/P08133 charge swissprot:ANXA6_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ANXA6_HUMAN eggNOG ENOG410XPUN http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XPUN eggNOG KOG0819 http://eggnogapi.embl.de/nog_data/html/tree/KOG0819 epestfind swissprot:ANXA6_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ANXA6_HUMAN garnier swissprot:ANXA6_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ANXA6_HUMAN helixturnhelix swissprot:ANXA6_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ANXA6_HUMAN hmoment swissprot:ANXA6_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ANXA6_HUMAN iep swissprot:ANXA6_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ANXA6_HUMAN inforesidue swissprot:ANXA6_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ANXA6_HUMAN neXtProt NX_P08133 http://www.nextprot.org/db/entry/NX_P08133 octanol swissprot:ANXA6_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ANXA6_HUMAN pepcoil swissprot:ANXA6_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ANXA6_HUMAN pepdigest swissprot:ANXA6_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ANXA6_HUMAN pepinfo swissprot:ANXA6_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ANXA6_HUMAN pepnet swissprot:ANXA6_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ANXA6_HUMAN pepstats swissprot:ANXA6_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ANXA6_HUMAN pepwheel swissprot:ANXA6_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ANXA6_HUMAN pepwindow swissprot:ANXA6_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ANXA6_HUMAN sigcleave swissprot:ANXA6_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ANXA6_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS SIDT1_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NXL6-1; Sequence=Displayed; Name=2; IsoId=Q9NXL6-2; Sequence=VSP_039174; Note=No experimental confirmation available.; # CCDS CCDS2974 -. [Q9NXL6-1] # CCDS CCDS77790 -. [Q9NXL6-2] # ChiTaRS SIDT1 human # Ensembl ENST00000264852 ENSP00000264852; ENSG00000072858. [Q9NXL6-1] # Ensembl ENST00000393830 ENSP00000377416; ENSG00000072858. [Q9NXL6-2] # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0051033 RNA transmembrane transporter activity; IEA:InterPro. # GO_process GO:0033227 dsRNA transport; IEA:InterPro. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # Genevisible Q9NXL6 HS # HGNC HGNC:25967 SIDT1 # InterPro IPR025958 SID1_TM_fam # MIM 606816 gene # Organism SIDT1_HUMAN Homo sapiens (Human) # Pfam PF13965 SID-1_RNA_chan # Proteomes UP000005640 Chromosome 3 # RecName SIDT1_HUMAN SID1 transmembrane family member 1 # RefSeq NP_001295279 NM_001308350.1. [Q9NXL6-2] # RefSeq NP_060169 NM_017699.2. [Q9NXL6-1] # SIMILARITY Belongs to the SID1 family. {ECO 0000305}. # SUBCELLULAR LOCATION SIDT1_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # TCDB 1.A.79.1 the cholesterol uptake protein (chup) or double stranded rna uptake family # UCSC uc003eak human. [Q9NXL6-1] # eggNOG ENOG410IF6Z Eukaryota # eggNOG ENOG410XPBN LUCA BLAST swissprot:SIDT1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SIDT1_HUMAN BioCyc ZFISH:ENSG00000072858-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000072858-MONOMER COXPRESdb 54847 http://coxpresdb.jp/data/gene/54847.shtml CleanEx HS_SIDT1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SIDT1 DOI 10.1038/nature04728 http://dx.doi.org/10.1038/nature04728 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AC055740 http://www.ebi.ac.uk/ena/data/view/AC055740 EMBL AC112128 http://www.ebi.ac.uk/ena/data/view/AC112128 EMBL AK000181 http://www.ebi.ac.uk/ena/data/view/AK000181 EMBL BC117222 http://www.ebi.ac.uk/ena/data/view/BC117222 Ensembl ENST00000264852 http://www.ensembl.org/id/ENST00000264852 Ensembl ENST00000393830 http://www.ensembl.org/id/ENST00000393830 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0051033 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051033 GO_process GO:0033227 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033227 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GeneCards SIDT1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SIDT1 GeneID 54847 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=54847 GeneTree ENSGT00390000010091 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000010091 HGNC HGNC:25967 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:25967 HOGENOM HOG000020635 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000020635&db=HOGENOM6 HOVERGEN HBG079188 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG079188&db=HOVERGEN HPA HPA035862 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA035862 InParanoid Q9NXL6 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9NXL6 IntAct Q9NXL6 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9NXL6* InterPro IPR025958 http://www.ebi.ac.uk/interpro/entry/IPR025958 Jabion 54847 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=54847 KEGG_Gene hsa:54847 http://www.genome.jp/dbget-bin/www_bget?hsa:54847 MIM 606816 http://www.ncbi.nlm.nih.gov/omim/606816 OMA FFIQEKE http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=FFIQEKE OrthoDB EOG091G01Q2 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G01Q2 PSORT swissprot:SIDT1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SIDT1_HUMAN PSORT-B swissprot:SIDT1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SIDT1_HUMAN PSORT2 swissprot:SIDT1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SIDT1_HUMAN Pfam PF13965 http://pfam.xfam.org/family/PF13965 PharmGKB PA134923837 http://www.pharmgkb.org/do/serve?objId=PA134923837&objCls=Gene Phobius swissprot:SIDT1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SIDT1_HUMAN PhylomeDB Q9NXL6 http://phylomedb.org/?seqid=Q9NXL6 ProteinModelPortal Q9NXL6 http://www.proteinmodelportal.org/query/uniprot/Q9NXL6 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16641997 http://www.ncbi.nlm.nih.gov/pubmed/16641997 RefSeq NP_001295279 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001295279 RefSeq NP_060169 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_060169 STRING 9606.ENSP00000264852 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000264852&targetmode=cogs TCDB 1.A.79.1 http://www.tcdb.org/search/result.php?tc=1.A.79.1 UCSC uc003eak http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003eak&org=rat UniGene Hs.591291 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.591291 UniProtKB SIDT1_HUMAN http://www.uniprot.org/uniprot/SIDT1_HUMAN UniProtKB-AC Q9NXL6 http://www.uniprot.org/uniprot/Q9NXL6 charge swissprot:SIDT1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SIDT1_HUMAN eggNOG ENOG410IF6Z http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IF6Z eggNOG ENOG410XPBN http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XPBN epestfind swissprot:SIDT1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SIDT1_HUMAN garnier swissprot:SIDT1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SIDT1_HUMAN helixturnhelix swissprot:SIDT1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SIDT1_HUMAN hmoment swissprot:SIDT1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SIDT1_HUMAN iep swissprot:SIDT1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SIDT1_HUMAN inforesidue swissprot:SIDT1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SIDT1_HUMAN neXtProt NX_Q9NXL6 http://www.nextprot.org/db/entry/NX_Q9NXL6 octanol swissprot:SIDT1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SIDT1_HUMAN pepcoil swissprot:SIDT1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SIDT1_HUMAN pepdigest swissprot:SIDT1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SIDT1_HUMAN pepinfo swissprot:SIDT1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SIDT1_HUMAN pepnet swissprot:SIDT1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SIDT1_HUMAN pepstats swissprot:SIDT1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SIDT1_HUMAN pepwheel swissprot:SIDT1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SIDT1_HUMAN pepwindow swissprot:SIDT1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SIDT1_HUMAN sigcleave swissprot:SIDT1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SIDT1_HUMAN ## Database ID URL or Descriptions # AltName NCKX3_HUMAN Na(+)/K(+)/Ca(2+)-exchange protein 3 # AltName NCKX3_HUMAN Solute carrier family 24 member 3 # ChiTaRS SLC24A3 human # Ensembl ENST00000328041 ENSP00000333519; ENSG00000185052 # Ensembl ENST00000613834 ENSP00000482967; ENSG00000185052 # FUNCTION NCKX3_HUMAN Transports 1 Ca(2+) and 1 K(+) in exchange for 4 Na(+). {ECO 0000250}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_function GO:0005262 calcium channel activity; IBA:GO_Central. # GO_function GO:0005509 calcium ion binding; IBA:GO_Central. # GO_function GO:0015293 symporter activity; IEA:UniProtKB-KW. # GO_function GO:0030955 potassium ion binding; IBA:GO_Central. # GO_function GO:0031402 sodium ion binding; IBA:GO_Central. # GO_function NCKX3_HUMAN GO 0008273 calcium, potassium sodium antiporter activity; IBA GO_Central. # GO_process GO:0006811 ion transport; TAS:Reactome. # GO_process GO:0006874 cellular calcium ion homeostasis; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0042592 homeostatic process # Genevisible Q9HC58 HS # HGNC HGNC:10977 SLC24A3 # InterPro IPR004481 K/Na/Ca-exchanger # InterPro IPR004837 NaCa_Exmemb # InterPro IPR030248 SLC24A3 # KEGG_Brite ko02001 Solute carrier family # MIM 609839 gene # Organism NCKX3_HUMAN Homo sapiens (Human) # PANTHER PTHR10846 PTHR10846 # PANTHER PTHR10846:SF22 PTHR10846:SF22 # Pfam PF01699 Na_Ca_ex; 2 # Proteomes UP000005640 Chromosome 20 # Reactome R-HSA-425561 Sodium/Calcium exchangers # RecName NCKX3_HUMAN Sodium/potassium/calcium exchanger 3 # RefSeq NP_065740 NM_020689.3 # SIMILARITY Belongs to the Ca(2+):cation antiporter (CaCA) (TC 2.A.19) family. SLC24A subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION NCKX3_HUMAN Membrane; Multi-pass membrane protein. # TCDB 2.A.19.4.10:the ca(2+) cation antiporter (caca) family # TIGRFAMs TIGR00367 TIGR00367 # TISSUE SPECIFICITY NCKX3_HUMAN Abundant in the brain. Expressed at low levels in the aorta, uterus and intestine. # UCSC uc002wrl human # eggNOG ENOG410Y9YY LUCA # eggNOG KOG1307 Eukaryota BLAST swissprot:NCKX3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:NCKX3_HUMAN BioCyc ZFISH:G66-30813-MONOMER http://biocyc.org/getid?id=ZFISH:G66-30813-MONOMER COXPRESdb 57419 http://coxpresdb.jp/data/gene/57419.shtml CleanEx HS_SLC24A3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC24A3 DOI 10.1038/414865a http://dx.doi.org/10.1038/414865a DOI 10.1074/jbc.M102314200 http://dx.doi.org/10.1074/jbc.M102314200 EMBL AF169257 http://www.ebi.ac.uk/ena/data/view/AF169257 EMBL AF288087 http://www.ebi.ac.uk/ena/data/view/AF288087 EMBL AL034425 http://www.ebi.ac.uk/ena/data/view/AL034425 EMBL AL034425 http://www.ebi.ac.uk/ena/data/view/AL034425 EMBL AL034425 http://www.ebi.ac.uk/ena/data/view/AL034425 EMBL AL034425 http://www.ebi.ac.uk/ena/data/view/AL034425 EMBL AL034425 http://www.ebi.ac.uk/ena/data/view/AL034425 EMBL AL034425 http://www.ebi.ac.uk/ena/data/view/AL034425 EMBL AL049647 http://www.ebi.ac.uk/ena/data/view/AL049647 EMBL AL049647 http://www.ebi.ac.uk/ena/data/view/AL049647 EMBL AL049647 http://www.ebi.ac.uk/ena/data/view/AL049647 EMBL AL049647 http://www.ebi.ac.uk/ena/data/view/AL049647 EMBL AL049647 http://www.ebi.ac.uk/ena/data/view/AL049647 EMBL AL049647 http://www.ebi.ac.uk/ena/data/view/AL049647 EMBL AL121761 http://www.ebi.ac.uk/ena/data/view/AL121761 EMBL AL121761 http://www.ebi.ac.uk/ena/data/view/AL121761 EMBL AL121761 http://www.ebi.ac.uk/ena/data/view/AL121761 EMBL AL121761 http://www.ebi.ac.uk/ena/data/view/AL121761 EMBL AL121761 http://www.ebi.ac.uk/ena/data/view/AL121761 EMBL AL121761 http://www.ebi.ac.uk/ena/data/view/AL121761 EMBL AL121830 http://www.ebi.ac.uk/ena/data/view/AL121830 EMBL AL121830 http://www.ebi.ac.uk/ena/data/view/AL121830 EMBL AL121830 http://www.ebi.ac.uk/ena/data/view/AL121830 EMBL AL121830 http://www.ebi.ac.uk/ena/data/view/AL121830 EMBL AL121830 http://www.ebi.ac.uk/ena/data/view/AL121830 EMBL AL121830 http://www.ebi.ac.uk/ena/data/view/AL121830 EMBL AL136090 http://www.ebi.ac.uk/ena/data/view/AL136090 EMBL AL136090 http://www.ebi.ac.uk/ena/data/view/AL136090 EMBL AL136090 http://www.ebi.ac.uk/ena/data/view/AL136090 EMBL AL136090 http://www.ebi.ac.uk/ena/data/view/AL136090 EMBL AL136090 http://www.ebi.ac.uk/ena/data/view/AL136090 EMBL AL136090 http://www.ebi.ac.uk/ena/data/view/AL136090 EMBL AL139429 http://www.ebi.ac.uk/ena/data/view/AL139429 EMBL AL139429 http://www.ebi.ac.uk/ena/data/view/AL139429 EMBL AL139429 http://www.ebi.ac.uk/ena/data/view/AL139429 EMBL AL139429 http://www.ebi.ac.uk/ena/data/view/AL139429 EMBL AL139429 http://www.ebi.ac.uk/ena/data/view/AL139429 EMBL AL139429 http://www.ebi.ac.uk/ena/data/view/AL139429 Ensembl ENST00000328041 http://www.ensembl.org/id/ENST00000328041 Ensembl ENST00000613834 http://www.ensembl.org/id/ENST00000613834 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0005262 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005262 GO_function GO:0005509 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005509 GO_function GO:0008273 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008273 GO_function GO:0015293 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015293 GO_function GO:0030955 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030955 GO_function GO:0031402 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031402 GO_process GO:0006811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006811 GO_process GO:0006874 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006874 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GeneCards SLC24A3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC24A3 GeneID 57419 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=57419 GeneTree ENSGT00760000119209 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119209 H-InvDB HIX0040511 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0040511 HGNC HGNC:10977 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10977 HOGENOM HOG000231933 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231933&db=HOGENOM6 HOVERGEN HBG054881 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG054881&db=HOVERGEN HPA HPA043400 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA043400 HPA HPA045497 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA045497 InParanoid Q9HC58 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9HC58 InterPro IPR004481 http://www.ebi.ac.uk/interpro/entry/IPR004481 InterPro IPR004837 http://www.ebi.ac.uk/interpro/entry/IPR004837 InterPro IPR030248 http://www.ebi.ac.uk/interpro/entry/IPR030248 Jabion 57419 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=57419 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:57419 http://www.genome.jp/dbget-bin/www_bget?hsa:57419 KEGG_Orthology KO:K13751 http://www.genome.jp/dbget-bin/www_bget?KO:K13751 MIM 609839 http://www.ncbi.nlm.nih.gov/omim/609839 OMA LGCGCLF http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=LGCGCLF OrthoDB EOG091G0M5C http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0M5C PANTHER PTHR10846 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10846 PANTHER PTHR10846:SF22 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10846:SF22 PSORT swissprot:NCKX3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:NCKX3_HUMAN PSORT-B swissprot:NCKX3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:NCKX3_HUMAN PSORT2 swissprot:NCKX3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:NCKX3_HUMAN Pfam PF01699 http://pfam.xfam.org/family/PF01699 PharmGKB PA35853 http://www.pharmgkb.org/do/serve?objId=PA35853&objCls=Gene Phobius swissprot:NCKX3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:NCKX3_HUMAN PhylomeDB Q9HC58 http://phylomedb.org/?seqid=Q9HC58 ProteinModelPortal Q9HC58 http://www.proteinmodelportal.org/query/uniprot/Q9HC58 PubMed 11294880 http://www.ncbi.nlm.nih.gov/pubmed/11294880 PubMed 11780052 http://www.ncbi.nlm.nih.gov/pubmed/11780052 Reactome R-HSA-425561 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-425561 RefSeq NP_065740 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_065740 STRING 9606.ENSP00000333519 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000333519&targetmode=cogs TCDB 2.A.19.4.10 http://www.tcdb.org/search/result.php?tc=2.A.19.4.10 TIGRFAMs TIGR00367 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00367 UCSC uc002wrl http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002wrl&org=rat UniGene Hs.654790 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.654790 UniProtKB NCKX3_HUMAN http://www.uniprot.org/uniprot/NCKX3_HUMAN UniProtKB-AC Q9HC58 http://www.uniprot.org/uniprot/Q9HC58 charge swissprot:NCKX3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:NCKX3_HUMAN eggNOG ENOG410Y9YY http://eggnogapi.embl.de/nog_data/html/tree/ENOG410Y9YY eggNOG KOG1307 http://eggnogapi.embl.de/nog_data/html/tree/KOG1307 epestfind swissprot:NCKX3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:NCKX3_HUMAN garnier swissprot:NCKX3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:NCKX3_HUMAN helixturnhelix swissprot:NCKX3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:NCKX3_HUMAN hmoment swissprot:NCKX3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:NCKX3_HUMAN iep swissprot:NCKX3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:NCKX3_HUMAN inforesidue swissprot:NCKX3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:NCKX3_HUMAN neXtProt NX_Q9HC58 http://www.nextprot.org/db/entry/NX_Q9HC58 octanol swissprot:NCKX3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:NCKX3_HUMAN pepcoil swissprot:NCKX3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:NCKX3_HUMAN pepdigest swissprot:NCKX3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:NCKX3_HUMAN pepinfo swissprot:NCKX3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:NCKX3_HUMAN pepnet swissprot:NCKX3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:NCKX3_HUMAN pepstats swissprot:NCKX3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:NCKX3_HUMAN pepwheel swissprot:NCKX3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:NCKX3_HUMAN pepwindow swissprot:NCKX3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:NCKX3_HUMAN sigcleave swissprot:NCKX3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:NCKX3_HUMAN ## Database ID URL or Descriptions # AltName VAS1_HUMAN Protein XAP-3 # AltName VAS1_HUMAN V-ATPase Ac45 subunit # AltName VAS1_HUMAN V-ATPase S1 accessory protein # AltName VAS1_HUMAN Vacuolar proton pump subunit S1 # BioGrid 107019 33 # ChiTaRS ATP6AP1 human # Ensembl ENST00000369762 ENSP00000358777; ENSG00000071553 # ExpressionAtlas Q15904 baseline and differential # FUNCTION VAS1_HUMAN Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. {ECO 0000250}. # GO_component GO:0010008 endosome membrane; TAS:Reactome. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0016469 proton-transporting two-sector ATPase complex; TAS:ProtInc. # GO_component GO:0033180 proton-transporting V-type ATPase, V1 domain; IEA:InterPro. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0005215 transporter activity; TAS:ProtInc. # GO_function GO:0005524 ATP binding; IEA:UniProtKB-KW. # GO_function GO:0017137 Rab GTPase binding; ISS:UniProtKB. # GO_function GO:0046933 proton-transporting ATP synthase activity, rotational mechanism; IEA:InterPro. # GO_function GO:0046961 proton-transporting ATPase activity, rotational mechanism; IEA:InterPro. # GO_process GO:0008286 insulin receptor signaling pathway; TAS:Reactome. # GO_process GO:0015991 ATP hydrolysis coupled proton transport; IEA:InterPro. # GO_process GO:0015992 proton transport; TAS:ProtInc. # GO_process GO:0033572 transferrin transport; TAS:Reactome. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0045669 positive regulation of osteoblast differentiation; ISS:UniProtKB. # GO_process GO:0045780 positive regulation of bone resorption; ISS:UniProtKB. # GO_process GO:0045851 pH reduction; ISS:UniProtKB. # GO_process GO:0045921 positive regulation of exocytosis; ISS:UniProtKB. # GO_process GO:0051656 establishment of organelle localization; ISS:UniProtKB. # GO_process GO:0070374 positive regulation of ERK1 and ERK2 cascade; ISS:UniProtKB. # GO_process GO:2001206 positive regulation of osteoclast development; ISS:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0043226 organelle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0019899 enzyme binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Genevisible Q15904 HS # HGNC HGNC:868 ATP6AP1 # IntAct Q15904 23 # InterPro IPR008388 ATPase_V1-cplx_s1su # InterPro IPR024722 ATPase_V1_suS1_fam # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Brite ko01000 Enzymes # KEGG_Pathway ko00190 Oxidative phosphorylation # KEGG_Pathway ko04142 Lysosome # KEGG_Pathway ko04145 Phagosome # KEGG_Pathway ko05110 Vibrio cholerae infection # KEGG_Pathway ko05120 Epithelial cell signaling in Helicobacter pylori infection # KEGG_Pathway ko05152 Tuberculosis # KEGG_Pathway ko05161 Hepatitis B # KEGG_Pathway ko05323 Rheumatoid arthritis # MIM 300197 gene # Organism VAS1_HUMAN Homo sapiens (Human) # PANTHER PTHR12471 PTHR12471 # Pfam PF05827 ATP-synt_S1 # Proteomes UP000005640 Chromosome X # Reactome R-HSA-77387 Insulin receptor recycling # Reactome R-HSA-917977 Transferrin endocytosis and recycling # Reactome R-HSA-983712 Ion channel transport # RecName VAS1_HUMAN V-type proton ATPase subunit S1 # RefSeq NP_001174 NM_001183.5 # RefSeq XP_011529481 XM_011531179.1 # SEQUENCE CAUTION Sequence=BAA03938.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAB66785.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the vacuolar ATPase subunit S1 family. {ECO 0000305}. # SUBCELLULAR LOCATION VAS1_HUMAN Vacuole membrane {ECO 0000250}; Single-pass membrane protein {ECO 0000250}. # SUBUNIT VAS1_HUMAN Composed of at least 10 subunits. # TISSUE SPECIFICITY VAS1_HUMAN Ubiquitous. # UCSC uc004flf human # eggNOG ENOG410XTHY LUCA # eggNOG KOG3868 Eukaryota BLAST swissprot:VAS1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:VAS1_HUMAN BioCyc MetaCyc:HS01034-MONOMER http://biocyc.org/getid?id=MetaCyc:HS01034-MONOMER BioCyc ZFISH:HS01034-MONOMER http://biocyc.org/getid?id=ZFISH:HS01034-MONOMER COXPRESdb 537 http://coxpresdb.jp/data/gene/537.shtml CleanEx HS_ATP6AP1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ATP6AP1 DOI 10.1006/geno.1994.1194 http://dx.doi.org/10.1006/geno.1994.1194 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1021/pr8008012 http://dx.doi.org/10.1021/pr8008012 DOI 10.1038/nature03440 http://dx.doi.org/10.1038/nature03440 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1093/dnares/12.2.117 http://dx.doi.org/10.1093/dnares/12.2.117 DOI 10.1093/hmg/5.5.659 http://dx.doi.org/10.1093/hmg/5.5.659 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1101/gr.GR1547R http://dx.doi.org/10.1101/gr.GR1547R DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AK026519 http://www.ebi.ac.uk/ena/data/view/AK026519 EMBL AK075284 http://www.ebi.ac.uk/ena/data/view/AK075284 EMBL AK289452 http://www.ebi.ac.uk/ena/data/view/AK289452 EMBL AL136851 http://www.ebi.ac.uk/ena/data/view/AL136851 EMBL BC000724 http://www.ebi.ac.uk/ena/data/view/BC000724 EMBL BX936347 http://www.ebi.ac.uk/ena/data/view/BX936347 EMBL BX936347 http://www.ebi.ac.uk/ena/data/view/BX936347 EMBL BX936385 http://www.ebi.ac.uk/ena/data/view/BX936385 EMBL BX936385 http://www.ebi.ac.uk/ena/data/view/BX936385 EMBL CH471172 http://www.ebi.ac.uk/ena/data/view/CH471172 EMBL D16469 http://www.ebi.ac.uk/ena/data/view/D16469 EMBL L44140 http://www.ebi.ac.uk/ena/data/view/L44140 Ensembl ENST00000369762 http://www.ensembl.org/id/ENST00000369762 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0010008 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010008 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0016469 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016469 GO_component GO:0033180 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033180 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0005215 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005215 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0017137 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0017137 GO_function GO:0046933 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046933 GO_function GO:0046961 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046961 GO_process GO:0008286 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008286 GO_process GO:0015991 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015991 GO_process GO:0015992 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015992 GO_process GO:0033572 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033572 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0045669 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045669 GO_process GO:0045780 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045780 GO_process GO:0045851 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045851 GO_process GO:0045921 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045921 GO_process GO:0051656 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051656 GO_process GO:0070374 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070374 GO_process GO:2001206 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2001206 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards ATP6AP1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ATP6AP1 GeneID 537 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=537 GeneTree ENSGT00530000063584 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000063584 HGNC HGNC:868 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:868 HOGENOM HOG000000706 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000000706&db=HOGENOM6 HOVERGEN HBG001090 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG001090&db=HOVERGEN HPA CAB015218 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB015218 InParanoid Q15904 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q15904 IntAct Q15904 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q15904* InterPro IPR008388 http://www.ebi.ac.uk/interpro/entry/IPR008388 InterPro IPR024722 http://www.ebi.ac.uk/interpro/entry/IPR024722 Jabion 537 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=537 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00002 http://www.genome.jp/dbget-bin/www_bget?ko00002 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Gene hsa:537 http://www.genome.jp/dbget-bin/www_bget?hsa:537 KEGG_Orthology KO:K03662 http://www.genome.jp/dbget-bin/www_bget?KO:K03662 KEGG_Pathway ko00190 http://www.genome.jp/kegg-bin/show_pathway?ko00190 KEGG_Pathway ko04142 http://www.genome.jp/kegg-bin/show_pathway?ko04142 KEGG_Pathway ko04145 http://www.genome.jp/kegg-bin/show_pathway?ko04145 KEGG_Pathway ko05110 http://www.genome.jp/kegg-bin/show_pathway?ko05110 KEGG_Pathway ko05120 http://www.genome.jp/kegg-bin/show_pathway?ko05120 KEGG_Pathway ko05152 http://www.genome.jp/kegg-bin/show_pathway?ko05152 KEGG_Pathway ko05161 http://www.genome.jp/kegg-bin/show_pathway?ko05161 KEGG_Pathway ko05323 http://www.genome.jp/kegg-bin/show_pathway?ko05323 MIM 300197 http://www.ncbi.nlm.nih.gov/omim/300197 MINT MINT-4722342 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-4722342 OMA GHITSDM http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=GHITSDM OrthoDB EOG091G0772 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0772 PANTHER PTHR12471 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12471 PSORT swissprot:VAS1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:VAS1_HUMAN PSORT-B swissprot:VAS1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:VAS1_HUMAN PSORT2 swissprot:VAS1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:VAS1_HUMAN Pfam PF05827 http://pfam.xfam.org/family/PF05827 PharmGKB PA25145 http://www.pharmgkb.org/do/serve?objId=PA25145&objCls=Gene Phobius swissprot:VAS1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:VAS1_HUMAN PhylomeDB Q15904 http://phylomedb.org/?seqid=Q15904 ProteinModelPortal Q15904 http://www.proteinmodelportal.org/query/uniprot/Q15904 PubMed 11230166 http://www.ncbi.nlm.nih.gov/pubmed/11230166 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15772651 http://www.ncbi.nlm.nih.gov/pubmed/15772651 PubMed 16303743 http://www.ncbi.nlm.nih.gov/pubmed/16303743 PubMed 19159218 http://www.ncbi.nlm.nih.gov/pubmed/19159218 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 8034313 http://www.ncbi.nlm.nih.gov/pubmed/8034313 PubMed 8733135 http://www.ncbi.nlm.nih.gov/pubmed/8733135 Reactome R-HSA-77387 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-77387 Reactome R-HSA-917977 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-917977 Reactome R-HSA-983712 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-983712 RefSeq NP_001174 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001174 RefSeq XP_011529481 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011529481 STRING 9606.ENSP00000358777 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000358777&targetmode=cogs UCSC uc004flf http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc004flf&org=rat UniGene Hs.633817 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.633817 UniGene Hs.6551 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.6551 UniProtKB VAS1_HUMAN http://www.uniprot.org/uniprot/VAS1_HUMAN UniProtKB-AC Q15904 http://www.uniprot.org/uniprot/Q15904 charge swissprot:VAS1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:VAS1_HUMAN eggNOG ENOG410XTHY http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XTHY eggNOG KOG3868 http://eggnogapi.embl.de/nog_data/html/tree/KOG3868 epestfind swissprot:VAS1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:VAS1_HUMAN garnier swissprot:VAS1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:VAS1_HUMAN helixturnhelix swissprot:VAS1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:VAS1_HUMAN hmoment swissprot:VAS1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:VAS1_HUMAN iep swissprot:VAS1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:VAS1_HUMAN inforesidue swissprot:VAS1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:VAS1_HUMAN neXtProt NX_Q15904 http://www.nextprot.org/db/entry/NX_Q15904 octanol swissprot:VAS1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:VAS1_HUMAN pepcoil swissprot:VAS1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:VAS1_HUMAN pepdigest swissprot:VAS1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:VAS1_HUMAN pepinfo swissprot:VAS1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:VAS1_HUMAN pepnet swissprot:VAS1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:VAS1_HUMAN pepstats swissprot:VAS1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:VAS1_HUMAN pepwheel swissprot:VAS1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:VAS1_HUMAN pepwindow swissprot:VAS1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:VAS1_HUMAN sigcleave swissprot:VAS1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:VAS1_HUMAN ## Database ID URL or Descriptions # AltName KCNS3_HUMAN Delayed-rectifier K(+) channel alpha subunit 3 # AltName KCNS3_HUMAN Voltage-gated potassium channel subunit Kv9.3 # BioGrid 109991 34 # DOMAIN KCNS3_HUMAN The transmembrane segment S4 functions as voltage-sensor and is characterized by a series of positively charged amino acids at every third position. Channel opening and closing is effected by a conformation change that affects the position and orientation of the voltage-sensor paddle formed by S3 and S4 within the membrane. A transmembrane electric field that is positive inside would push the positively charged S4 segment outwards, thereby opening the pore, while a field that is negative inside would pull the S4 segment inwards and close the pore. Changes in the position and orientation of S4 are then transmitted to the activation gate formed by the inner helix bundle via the S4-S5 linker region. {ECO 0000250|UniProtKB P63142}. # Ensembl ENST00000304101 ENSP00000305824; ENSG00000170745 # Ensembl ENST00000403915 ENSP00000385968; ENSG00000170745 # ExpressionAtlas Q9BQ31 baseline and differential # FUNCTION KCNS3_HUMAN Potassium channel subunit that does not form functional channels by itself. Can form functional heterotetrameric channels with KCNB1; modulates the delayed rectifier voltage-gated potassium channel activation and deactivation rates of KCNB1 (PubMed 10484328). Heterotetrameric channel activity formed with KCNB1 show increased current amplitude with the threshold for action potential activation shifted towards more negative values in hypoxic-treated pulmonary artery smooth muscle cells (By similarity). {ECO 0000250|UniProtKB O88759, ECO 0000269|PubMed 10484328}. # GO_component GO:0005737 cytoplasm; IDA:HPA. # GO_component GO:0005794 Golgi apparatus; IDA:HPA. # GO_component GO:0005886 plasma membrane; IDA:HPA. # GO_component GO:0008076 voltage-gated potassium channel complex; IEA:InterPro. # GO_component GO:0016021 integral component of membrane; IBA:GO_Central. # GO_function GO:0005251 delayed rectifier potassium channel activity; TAS:ProtInc. # GO_function GO:0015459 potassium channel regulator activity; TAS:ProtInc. # GO_process GO:0006813 potassium ion transport; TAS:ProtInc. # GO_process GO:0050796 regulation of insulin secretion; TAS:Reactome. # GO_process GO:0051260 protein homooligomerization; IEA:InterPro. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005794 Golgi apparatus # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # Gene3D 1.20.120.350 -; 1. # Genevisible Q9BQ31 HS # HGNC HGNC:6302 KCNS3 # InterPro IPR000210 BTB/POZ_dom # InterPro IPR003131 T1-type_BTB # InterPro IPR003968 K_chnl_volt-dep_Kv # InterPro IPR003971 K_chnl_volt-dep_Kv9 # InterPro IPR005821 Ion_trans_dom # InterPro IPR011333 SKP1/BTB/POZ # InterPro IPR027359 Channel_four-helix_dom # InterPro IPR028325 VG_K_chnl # KEGG_Brite ko04040 Ion channels # MIM 603888 gene # Organism KCNS3_HUMAN Homo sapiens (Human) # PANTHER PTHR11537 PTHR11537 # PRINTS PR00169 KCHANNEL # PRINTS PR01491 KVCHANNEL # PRINTS PR01494 KV9CHANNEL # Pfam PF00520 Ion_trans # Pfam PF02214 BTB_2 # Proteomes UP000005640 Chromosome 2 # Reactome R-HSA-1296072 Voltage gated Potassium channels # Reactome R-HSA-381676 Glucagon-like Peptide-1 (GLP1) regulates insulin secretion # RecName KCNS3_HUMAN Potassium voltage-gated channel subfamily S member 3 # RefSeq NP_001269357 NM_001282428.1 # RefSeq NP_002243 NM_002252.4 # RefSeq XP_011531127 XM_011532825.1 # RefSeq XP_016859548 XM_017004059.1 # SIMILARITY Belongs to the potassium channel family. S (TC 1.A.1.2) subfamily. Kv9.3/KCNS3 sub-subfamily. {ECO 0000305}. # SMART SM00225 BTB # SUBCELLULAR LOCATION KCNS3_HUMAN Cell membrane {ECO 0000269|PubMed 10484328}; Multi-pass membrane protein {ECO 0000305}. Note=May not reach the plasma membrane but remain in an intracellular compartment in the absence of KCNB1 (PubMed 10484328). {ECO 0000269|PubMed 10484328}. # SUBUNIT KCNS3_HUMAN Heterotetramer with KCNB1 (PubMed 10484328). Does not form homomultimers (PubMed 10484328). {ECO 0000269|PubMed 10484328}. # SUPFAM SSF54695 SSF54695 # TCDB 1.A.1.2.15 the voltage-gated ion channel (vic) superfamily # TISSUE SPECIFICITY KCNS3_HUMAN Detected in whole normal term placental and placental chorionic plate arteries and veins. Detected in syncytiotrophoblast and in blood vessel endothelium within intermediate villi and chorionic plate (at protein level) (PubMed 22943705). Detected in most tissues, but not in peripheral blood lymphocytes. The highest levels of expression are in lung (PubMed 10484328). {ECO 0000269|PubMed 10484328, ECO 0000269|PubMed 22943705}. # UCSC uc002rcv human # eggNOG COG1226 LUCA # eggNOG KOG3713 Eukaryota BLAST swissprot:KCNS3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCNS3_HUMAN BioCyc ZFISH:ENSG00000170745-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000170745-MONOMER COXPRESdb 3790 http://coxpresdb.jp/data/gene/3790.shtml CleanEx HS_KCNS3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNS3 DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.3109/01443615.2012.709288 http://dx.doi.org/10.3109/01443615.2012.709288 EMBL AC093731 http://www.ebi.ac.uk/ena/data/view/AC093731 EMBL AF043472 http://www.ebi.ac.uk/ena/data/view/AF043472 EMBL AK314451 http://www.ebi.ac.uk/ena/data/view/AK314451 EMBL BC004148 http://www.ebi.ac.uk/ena/data/view/BC004148 EMBL BC004987 http://www.ebi.ac.uk/ena/data/view/BC004987 EMBL BC015947 http://www.ebi.ac.uk/ena/data/view/BC015947 EMBL CH471053 http://www.ebi.ac.uk/ena/data/view/CH471053 EMBL CH471053 http://www.ebi.ac.uk/ena/data/view/CH471053 Ensembl ENST00000304101 http://www.ensembl.org/id/ENST00000304101 Ensembl ENST00000403915 http://www.ensembl.org/id/ENST00000403915 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0008076 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008076 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005251 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005251 GO_function GO:0015459 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015459 GO_process GO:0006813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006813 GO_process GO:0050796 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050796 GO_process GO:0051260 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051260 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 Gene3D 1.20.120.350 http://www.cathdb.info/version/latest/superfamily/1.20.120.350 GeneCards KCNS3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNS3 GeneID 3790 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=3790 GeneTree ENSGT00760000118981 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118981 H-InvDB HIX0001848 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0001848 HGNC HGNC:6302 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6302 HOGENOM HOG000231016 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231016&db=HOGENOM6 HOVERGEN HBG052230 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052230&db=HOVERGEN HPA HPA014864 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA014864 InParanoid Q9BQ31 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9BQ31 IntAct Q9BQ31 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9BQ31* InterPro IPR000210 http://www.ebi.ac.uk/interpro/entry/IPR000210 InterPro IPR003131 http://www.ebi.ac.uk/interpro/entry/IPR003131 InterPro IPR003968 http://www.ebi.ac.uk/interpro/entry/IPR003968 InterPro IPR003971 http://www.ebi.ac.uk/interpro/entry/IPR003971 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR011333 http://www.ebi.ac.uk/interpro/entry/IPR011333 InterPro IPR027359 http://www.ebi.ac.uk/interpro/entry/IPR027359 InterPro IPR028325 http://www.ebi.ac.uk/interpro/entry/IPR028325 Jabion 3790 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=3790 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:3790 http://www.genome.jp/dbget-bin/www_bget?hsa:3790 KEGG_Orthology KO:K04933 http://www.genome.jp/dbget-bin/www_bget?KO:K04933 MIM 603888 http://www.ncbi.nlm.nih.gov/omim/603888 OMA FTWVENV http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=FTWVENV OrthoDB EOG091G0FP3 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0FP3 PANTHER PTHR11537 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11537 PRINTS PR00169 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00169 PRINTS PR01491 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01491 PRINTS PR01494 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01494 PSORT swissprot:KCNS3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCNS3_HUMAN PSORT-B swissprot:KCNS3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCNS3_HUMAN PSORT2 swissprot:KCNS3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCNS3_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF02214 http://pfam.xfam.org/family/PF02214 PharmGKB PA30080 http://www.pharmgkb.org/do/serve?objId=PA30080&objCls=Gene Phobius swissprot:KCNS3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCNS3_HUMAN PhylomeDB Q9BQ31 http://phylomedb.org/?seqid=Q9BQ31 ProteinModelPortal Q9BQ31 http://www.proteinmodelportal.org/query/uniprot/Q9BQ31 PubMed 10484328 http://www.ncbi.nlm.nih.gov/pubmed/10484328 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 PubMed 22943705 http://www.ncbi.nlm.nih.gov/pubmed/22943705 Reactome R-HSA-1296072 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1296072 Reactome R-HSA-381676 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-381676 RefSeq NP_001269357 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001269357 RefSeq NP_002243 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_002243 RefSeq XP_011531127 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011531127 RefSeq XP_016859548 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016859548 SMART SM00225 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00225 SMR Q9BQ31 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9BQ31 STRING 9606.ENSP00000305824 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000305824&targetmode=cogs SUPFAM SSF54695 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF54695 TCDB 1.A.1.2.15 http://www.tcdb.org/search/result.php?tc=1.A.1.2.15 UCSC uc002rcv http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002rcv&org=rat UniGene Hs.414489 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.414489 UniProtKB KCNS3_HUMAN http://www.uniprot.org/uniprot/KCNS3_HUMAN UniProtKB-AC Q9BQ31 http://www.uniprot.org/uniprot/Q9BQ31 charge swissprot:KCNS3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCNS3_HUMAN eggNOG COG1226 http://eggnogapi.embl.de/nog_data/html/tree/COG1226 eggNOG KOG3713 http://eggnogapi.embl.de/nog_data/html/tree/KOG3713 epestfind swissprot:KCNS3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCNS3_HUMAN garnier swissprot:KCNS3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCNS3_HUMAN helixturnhelix swissprot:KCNS3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCNS3_HUMAN hmoment swissprot:KCNS3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCNS3_HUMAN iep swissprot:KCNS3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCNS3_HUMAN inforesidue swissprot:KCNS3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCNS3_HUMAN neXtProt NX_Q9BQ31 http://www.nextprot.org/db/entry/NX_Q9BQ31 octanol swissprot:KCNS3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCNS3_HUMAN pepcoil swissprot:KCNS3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCNS3_HUMAN pepdigest swissprot:KCNS3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCNS3_HUMAN pepinfo swissprot:KCNS3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCNS3_HUMAN pepnet swissprot:KCNS3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCNS3_HUMAN pepstats swissprot:KCNS3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCNS3_HUMAN pepwheel swissprot:KCNS3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCNS3_HUMAN pepwindow swissprot:KCNS3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCNS3_HUMAN sigcleave swissprot:KCNS3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCNS3_HUMAN ## Database ID URL or Descriptions # BioGrid 107040 19 # CAUTION It is uncertain whether Met-1 or Met-4 is the initiator. {ECO 0000305}. # ChiTaRS AZGP1 human # Ensembl ENST00000292401 ENSP00000292401; ENSG00000160862 # ExpressionAtlas P25311 baseline and differential # FUNCTION ZA2G_HUMAN Stimulates lipid degradation in adipocytes and causes the extensive fat losses associated with some advanced cancers. May bind polyunsaturated fatty acids. # GO_component GO:0005576 extracellular region; NAS:UniProtKB. # GO_component GO:0005615 extracellular space; IDA:UniProtKB. # GO_component GO:0005634 nucleus; IDA:UniProtKB. # GO_component GO:0005886 plasma membrane; IBA:GO_Central. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0001948 glycoprotein binding; IPI:UniProtKB. # GO_function GO:0003823 antigen binding; IBA:GO_Central. # GO_function GO:0004540 ribonuclease activity; NAS:UniProtKB. # GO_function GO:0008320 protein transmembrane transporter activity; NAS:UniProtKB. # GO_process GO:0001580 detection of chemical stimulus involved in sensory perception of bitter taste; IDA:UniProtKB. # GO_process GO:0001895 retina homeostasis; IEP:UniProtKB. # GO_process GO:0007155 cell adhesion; IDA:UniProtKB. # GO_process GO:0008285 negative regulation of cell proliferation; NAS:UniProtKB. # GO_process GO:0019882 antigen processing and presentation; IBA:GO_Central. # GO_process GO:0055085 transmembrane transport; TAS:Reactome. # GOslim_component GO:0005576 extracellular region # GOslim_component GO:0005615 extracellular space # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0004518 nuclease activity # GOslim_function GO:0008565 protein transporter activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0002376 immune system process # GOslim_process GO:0007155 cell adhesion # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 2.60.40.10 -; 1. # Gene3D 3.30.500.10 -; 1. # Genevisible P25311 HS # HGNC HGNC:910 AZGP1 # IntAct P25311 14 # InterPro IPR001039 MHC_I_a_a1/a2 # InterPro IPR003006 Ig/MHC_CS # InterPro IPR003597 Ig_C1-set # InterPro IPR007110 Ig-like_dom # InterPro IPR011161 MHC_I-like_Ag-recog # InterPro IPR011162 MHC_I/II-like_Ag-recog # InterPro IPR013783 Ig-like_fold # MIM 194460 gene # Organism ZA2G_HUMAN Homo sapiens (Human) # PDB 1T7V X-ray; 1.95 A; A=21-298 # PDB 1T7W X-ray; 2.70 A; A=21-298 # PDB 1T7X X-ray; 3.10 A; A=21-298 # PDB 1T7Y X-ray; 2.80 A; A=21-298 # PDB 1T7Z X-ray; 3.00 A; A=21-298 # PDB 1T80 X-ray; 2.10 A; A=21-298 # PDB 1ZAG X-ray; 2.80 A; A/B/C/D=25-298 # PDB 3ES6 X-ray; 3.23 A; A=21-298 # PIR A54175 A54175 # PRINTS PR01638 MHCCLASSI # PROSITE PS00290 IG_MHC # PROSITE PS50835 IG_LIKE # PTM ZA2G_HUMAN N-glycosylated. N-glycan at Asn-128 Hex5HexNAc4. {ECO 0000269|PubMed 10206894, ECO 0000269|PubMed 14760718, ECO 0000269|PubMed 15084671, ECO 0000269|PubMed 15477100, ECO 0000269|PubMed 16335952, ECO 0000269|PubMed 16740002, ECO 0000269|PubMed 18780401, ECO 0000269|PubMed 18930737, ECO 0000269|PubMed 19139490, ECO 0000269|PubMed 19159218, ECO 0000269|PubMed 22171320}. # Pfam PF00129 MHC_I # Pfam PF07654 C1-set # Proteomes UP000005640 Chromosome 7 # Reactome R-HSA-5223345 Miscellaneous transport and binding events # RecName ZA2G_HUMAN Zinc-alpha-2-glycoprotein # RefSeq NP_001176 NM_001185.3 # SEQUENCE CAUTION ZA2G_HUMAN Sequence=AAA61311.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO 0000305}; Sequence=BAA03123.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; Sequence=BAA14417.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; Sequence=CAA42438.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the MHC class I family. {ECO 0000305}. # SIMILARITY Contains 1 Ig-like C1-type (immunoglobulin-like) domain. {ECO 0000305}. # SMART SM00407 IGc1 # SUBCELLULAR LOCATION ZA2G_HUMAN Secreted. # SUBUNIT Interacts with PIP. {ECO:0000269|PubMed 18930737}. # SUPFAM SSF48726 SSF48726 # SUPFAM SSF54452 SSF54452 # TISSUE SPECIFICITY ZA2G_HUMAN Blood plasma, seminal plasma, urine, saliva, sweat, epithelial cells of various human glands, liver. # UCSC uc003ush human # eggNOG ENOG410J9FR Eukaryota # eggNOG ENOG4111CJX LUCA BLAST swissprot:ZA2G_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ZA2G_HUMAN BioCyc ZFISH:ENSG00000160862-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000160862-MONOMER COXPRESdb 563 http://coxpresdb.jp/data/gene/563.shtml CleanEx HS_AZGP1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_AZGP1 DOI 10.1002/pmic.200300556 http://dx.doi.org/10.1002/pmic.200300556 DOI 10.1002/pmic.200701057 http://dx.doi.org/10.1002/pmic.200701057 DOI 10.1016/0006-291X(91)91844-3 http://dx.doi.org/10.1016/0006-291X(91)91844-3 DOI 10.1016/0014-5793(91)81271-9 http://dx.doi.org/10.1016/0014-5793(91)81271-9 DOI 10.1016/S0888-7543(05)80359-3 http://dx.doi.org/10.1016/S0888-7543(05)80359-3 DOI 10.1016/j.jmb.2008.09.072 http://dx.doi.org/10.1016/j.jmb.2008.09.072 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1016/j.jsb.2004.04.009 http://dx.doi.org/10.1016/j.jsb.2004.04.009 DOI 10.1021/bi00211a004 http://dx.doi.org/10.1021/bi00211a004 DOI 10.1021/pr0502065 http://dx.doi.org/10.1021/pr0502065 DOI 10.1021/pr050492k http://dx.doi.org/10.1021/pr050492k DOI 10.1021/pr8008012 http://dx.doi.org/10.1021/pr8008012 DOI 10.1038/nature01782 http://dx.doi.org/10.1038/nature01782 DOI 10.1073/pnas.85.3.679 http://dx.doi.org/10.1073/pnas.85.3.679 DOI 10.1073/pnas.94.9.4626 http://dx.doi.org/10.1073/pnas.94.9.4626 DOI 10.1074/jbc.C100301200 http://dx.doi.org/10.1074/jbc.C100301200 DOI 10.1074/mcp.M111.013649 http://dx.doi.org/10.1074/mcp.M111.013649 DOI 10.1074/mcp.M400015-MCP200 http://dx.doi.org/10.1074/mcp.M400015-MCP200 DOI 10.1074/mcp.M800504-MCP200 http://dx.doi.org/10.1074/mcp.M800504-MCP200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1110/ps.04682504 http://dx.doi.org/10.1110/ps.04682504 DOI 10.1126/science.1083423 http://dx.doi.org/10.1126/science.1083423 DOI 10.1126/science.283.5409.1914 http://dx.doi.org/10.1126/science.283.5409.1914 EMBL AC004522 http://www.ebi.ac.uk/ena/data/view/AC004522 EMBL BC005306 http://www.ebi.ac.uk/ena/data/view/BC005306 EMBL BC033830 http://www.ebi.ac.uk/ena/data/view/BC033830 EMBL CH236956 http://www.ebi.ac.uk/ena/data/view/CH236956 EMBL CH471091 http://www.ebi.ac.uk/ena/data/view/CH471091 EMBL CH471091 http://www.ebi.ac.uk/ena/data/view/CH471091 EMBL D14034 http://www.ebi.ac.uk/ena/data/view/D14034 EMBL D90427 http://www.ebi.ac.uk/ena/data/view/D90427 EMBL M76707 http://www.ebi.ac.uk/ena/data/view/M76707 EMBL X59766 http://www.ebi.ac.uk/ena/data/view/X59766 EMBL X69953 http://www.ebi.ac.uk/ena/data/view/X69953 Ensembl ENST00000292401 http://www.ensembl.org/id/ENST00000292401 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005576 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005576 GO_component GO:0005615 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005615 GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0001948 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001948 GO_function GO:0003823 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003823 GO_function GO:0004540 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004540 GO_function GO:0008320 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008320 GO_process GO:0001580 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001580 GO_process GO:0001895 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001895 GO_process GO:0007155 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007155 GO_process GO:0008285 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008285 GO_process GO:0019882 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019882 GO_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GOslim_component GO:0005576 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005576 GOslim_component GO:0005615 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005615 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0004518 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004518 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0002376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002376 GOslim_process GO:0007155 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007155 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 2.60.40.10 http://www.cathdb.info/version/latest/superfamily/2.60.40.10 Gene3D 3.30.500.10 http://www.cathdb.info/version/latest/superfamily/3.30.500.10 GeneCards AZGP1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=AZGP1 GeneID 563 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=563 GeneTree ENSGT00760000118960 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118960 HGNC HGNC:910 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:910 HOGENOM HOG000296917 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000296917&db=HOGENOM6 HOVERGEN HBG016709 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG016709&db=HOVERGEN HPA CAB016087 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB016087 HPA CAB032276 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB032276 HPA HPA012582 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA012582 InParanoid P25311 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P25311 IntAct P25311 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P25311* InterPro IPR001039 http://www.ebi.ac.uk/interpro/entry/IPR001039 InterPro IPR003006 http://www.ebi.ac.uk/interpro/entry/IPR003006 InterPro IPR003597 http://www.ebi.ac.uk/interpro/entry/IPR003597 InterPro IPR007110 http://www.ebi.ac.uk/interpro/entry/IPR007110 InterPro IPR011161 http://www.ebi.ac.uk/interpro/entry/IPR011161 InterPro IPR011162 http://www.ebi.ac.uk/interpro/entry/IPR011162 InterPro IPR013783 http://www.ebi.ac.uk/interpro/entry/IPR013783 Jabion 563 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=563 KEGG_Gene hsa:563 http://www.genome.jp/dbget-bin/www_bget?hsa:563 MIM 194460 http://www.ncbi.nlm.nih.gov/omim/194460 OMA IFMVTLK http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=IFMVTLK OrthoDB EOG091G0K1X http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0K1X PDB 1T7V http://www.ebi.ac.uk/pdbe-srv/view/entry/1T7V PDB 1T7W http://www.ebi.ac.uk/pdbe-srv/view/entry/1T7W PDB 1T7X http://www.ebi.ac.uk/pdbe-srv/view/entry/1T7X PDB 1T7Y http://www.ebi.ac.uk/pdbe-srv/view/entry/1T7Y PDB 1T7Z http://www.ebi.ac.uk/pdbe-srv/view/entry/1T7Z PDB 1T80 http://www.ebi.ac.uk/pdbe-srv/view/entry/1T80 PDB 1ZAG http://www.ebi.ac.uk/pdbe-srv/view/entry/1ZAG PDB 3ES6 http://www.ebi.ac.uk/pdbe-srv/view/entry/3ES6 PDBsum 1T7V http://www.ebi.ac.uk/pdbsum/1T7V PDBsum 1T7W http://www.ebi.ac.uk/pdbsum/1T7W PDBsum 1T7X http://www.ebi.ac.uk/pdbsum/1T7X PDBsum 1T7Y http://www.ebi.ac.uk/pdbsum/1T7Y PDBsum 1T7Z http://www.ebi.ac.uk/pdbsum/1T7Z PDBsum 1T80 http://www.ebi.ac.uk/pdbsum/1T80 PDBsum 1ZAG http://www.ebi.ac.uk/pdbsum/1ZAG PDBsum 3ES6 http://www.ebi.ac.uk/pdbsum/3ES6 PRINTS PR01638 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01638 PROSITE PS00290 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00290 PROSITE PS50835 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50835 PSORT swissprot:ZA2G_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ZA2G_HUMAN PSORT-B swissprot:ZA2G_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ZA2G_HUMAN PSORT2 swissprot:ZA2G_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ZA2G_HUMAN Pfam PF00129 http://pfam.xfam.org/family/PF00129 Pfam PF07654 http://pfam.xfam.org/family/PF07654 PharmGKB PA25203 http://www.pharmgkb.org/do/serve?objId=PA25203&objCls=Gene Phobius swissprot:ZA2G_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ZA2G_HUMAN PhylomeDB P25311 http://phylomedb.org/?seqid=P25311 ProteinModelPortal P25311 http://www.proteinmodelportal.org/query/uniprot/P25311 PubMed 10206894 http://www.ncbi.nlm.nih.gov/pubmed/10206894 PubMed 11425849 http://www.ncbi.nlm.nih.gov/pubmed/11425849 PubMed 12690205 http://www.ncbi.nlm.nih.gov/pubmed/12690205 PubMed 12853948 http://www.ncbi.nlm.nih.gov/pubmed/12853948 PubMed 14760718 http://www.ncbi.nlm.nih.gov/pubmed/14760718 PubMed 15084671 http://www.ncbi.nlm.nih.gov/pubmed/15084671 PubMed 15340161 http://www.ncbi.nlm.nih.gov/pubmed/15340161 PubMed 15477100 http://www.ncbi.nlm.nih.gov/pubmed/15477100 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16335952 http://www.ncbi.nlm.nih.gov/pubmed/16335952 PubMed 16740002 http://www.ncbi.nlm.nih.gov/pubmed/16740002 PubMed 18780401 http://www.ncbi.nlm.nih.gov/pubmed/18780401 PubMed 18930737 http://www.ncbi.nlm.nih.gov/pubmed/18930737 PubMed 19139490 http://www.ncbi.nlm.nih.gov/pubmed/19139490 PubMed 1915885 http://www.ncbi.nlm.nih.gov/pubmed/1915885 PubMed 19159218 http://www.ncbi.nlm.nih.gov/pubmed/19159218 PubMed 2049092 http://www.ncbi.nlm.nih.gov/pubmed/2049092 PubMed 22171320 http://www.ncbi.nlm.nih.gov/pubmed/22171320 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 3422450 http://www.ncbi.nlm.nih.gov/pubmed/3422450 PubMed 8241150 http://www.ncbi.nlm.nih.gov/pubmed/8241150 PubMed 8307568 http://www.ncbi.nlm.nih.gov/pubmed/8307568 PubMed 9114041 http://www.ncbi.nlm.nih.gov/pubmed/9114041 Reactome R-HSA-5223345 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5223345 RefSeq NP_001176 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001176 SMART SM00407 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00407 SMR P25311 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P25311 STRING 9606.ENSP00000292401 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000292401&targetmode=cogs SUPFAM SSF48726 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48726 SUPFAM SSF54452 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF54452 SWISS-2DPAGE P25311 http://world-2dpage.expasy.org/swiss-2dpage/protein/ac=P25311 UCSC uc003ush http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003ush&org=rat UniGene Hs.546239 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.546239 UniProtKB ZA2G_HUMAN http://www.uniprot.org/uniprot/ZA2G_HUMAN UniProtKB-AC P25311 http://www.uniprot.org/uniprot/P25311 charge swissprot:ZA2G_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ZA2G_HUMAN eggNOG ENOG410J9FR http://eggnogapi.embl.de/nog_data/html/tree/ENOG410J9FR eggNOG ENOG4111CJX http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111CJX epestfind swissprot:ZA2G_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ZA2G_HUMAN garnier swissprot:ZA2G_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ZA2G_HUMAN helixturnhelix swissprot:ZA2G_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ZA2G_HUMAN hmoment swissprot:ZA2G_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ZA2G_HUMAN iep swissprot:ZA2G_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ZA2G_HUMAN inforesidue swissprot:ZA2G_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ZA2G_HUMAN neXtProt NX_P25311 http://www.nextprot.org/db/entry/NX_P25311 octanol swissprot:ZA2G_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ZA2G_HUMAN pepcoil swissprot:ZA2G_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ZA2G_HUMAN pepdigest swissprot:ZA2G_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ZA2G_HUMAN pepinfo swissprot:ZA2G_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ZA2G_HUMAN pepnet swissprot:ZA2G_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ZA2G_HUMAN pepstats swissprot:ZA2G_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ZA2G_HUMAN pepwheel swissprot:ZA2G_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ZA2G_HUMAN pepwindow swissprot:ZA2G_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ZA2G_HUMAN sigcleave swissprot:ZA2G_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ZA2G_HUMAN ## Database ID URL or Descriptions # BioGrid 121691 3 # ChiTaRS HCN3 human # DOMAIN HCN3_HUMAN The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position. # ENZYME REGULATION Inhibited by Cs(1+) and ZD7288. Is apparently not activated by cAMP. {ECO:0000269|PubMed 16043489}. # Ensembl ENST00000368358 ENSP00000357342; ENSG00000143630 # Ensembl ENST00000575670 ENSP00000458364; ENSG00000263324 # FUNCTION HCN3_HUMAN Hyperpolarization-activated potassium channel. May also facilitate the permeation of sodium ions. {ECO 0000269|PubMed 16043489}. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0030425 dendrite; IEA:Ensembl. # GO_component GO:0043025 neuronal cell body; IEA:Ensembl. # GO_component GO:0044316 cone cell pedicle; IEA:Ensembl. # GO_component GO:0045202 synapse; IEA:Ensembl. # GO_function GO:0005248 voltage-gated sodium channel activity; IMP:UniProtKB. # GO_function GO:0005249 voltage-gated potassium channel activity; IMP:UniProtKB. # GO_function GO:0030552 cAMP binding; IEA:UniProtKB-KW. # GO_process GO:0035725 sodium ion transmembrane transport; IMP:UniProtKB. # GO_process GO:0042391 regulation of membrane potential; IMP:UniProtKB. # GO_process GO:0071805 potassium ion transmembrane transport; IMP:UniProtKB. # GO_process GO:0072718 response to cisplatin; IEA:Ensembl. # GO_process GO:1903351 cellular response to dopamine; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0008150 biological_process # GOslim_process GO:0055085 transmembrane transport # Gene3D 2.60.120.10 -; 1. # Genevisible Q9P1Z3 HS # HGNC HGNC:19183 HCN3 # InterPro IPR000595 cNMP-bd_dom # InterPro IPR003938 K_chnl_volt-dep_EAG/ELK/ERG # InterPro IPR005821 Ion_trans_dom # InterPro IPR013621 Ion_trans_N # InterPro IPR014710 RmlC-like_jellyroll # InterPro IPR018490 cNMP-bd-like # KEGG_Brite ko04040 Ion channels # MIM 609973 gene # Organism HCN3_HUMAN Homo sapiens (Human) # PRINTS PR01463 EAGCHANLFMLY # PROSITE PS50042 CNMP_BINDING_3 # Pfam PF00027 cNMP_binding # Pfam PF00520 Ion_trans # Pfam PF08412 Ion_trans_N # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-1296061 HCN channels # RecName HCN3_HUMAN Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 3 # RefSeq NP_065948 NM_020897.2 # SEQUENCE CAUTION Sequence=AAH28024.2; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the potassium channel HCN family. {ECO 0000305}. # SIMILARITY Contains 1 cyclic nucleotide-binding domain. {ECO:0000255|PROSITE-ProRule PRU00060}. # SMART SM00100 cNMP # SUBCELLULAR LOCATION HCN3_HUMAN Cell membrane {ECO 0000269|PubMed 16043489}; Multi-pass membrane protein {ECO 0000269|PubMed 16043489}. # SUBUNIT Homotetramer. The potassium channel is probably composed of a homo- or heterotetrameric complex of pore-forming subunits (By similarity). {ECO 0000250}. # SUPFAM SSF51206 SSF51206 # TISSUE SPECIFICITY Detected in brain. {ECO:0000269|PubMed 16043489}. # UCSC uc001fjz human # eggNOG ENOG410XPSE LUCA # eggNOG KOG0498 Eukaryota BLAST swissprot:HCN3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:HCN3_HUMAN BioCyc ZFISH:ENSG00000143630-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000143630-MONOMER COXPRESdb 57657 http://coxpresdb.jp/data/gene/57657.shtml CleanEx HS_HCN3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_HCN3 DIP DIP-62039N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-62039N DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1074/jbc.M502508200 http://dx.doi.org/10.1074/jbc.M502508200 DOI 10.1093/dnares/7.2.143 http://dx.doi.org/10.1093/dnares/7.2.143 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AB040968 http://www.ebi.ac.uk/ena/data/view/AB040968 EMBL AL713999 http://www.ebi.ac.uk/ena/data/view/AL713999 EMBL BC000066 http://www.ebi.ac.uk/ena/data/view/BC000066 EMBL BC028024 http://www.ebi.ac.uk/ena/data/view/BC028024 EMBL CH471121 http://www.ebi.ac.uk/ena/data/view/CH471121 EMBL CH471121 http://www.ebi.ac.uk/ena/data/view/CH471121 Ensembl ENST00000368358 http://www.ensembl.org/id/ENST00000368358 Ensembl ENST00000575670 http://www.ensembl.org/id/ENST00000575670 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0030425 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030425 GO_component GO:0043025 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043025 GO_component GO:0044316 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044316 GO_component GO:0045202 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045202 GO_function GO:0005248 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005248 GO_function GO:0005249 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005249 GO_function GO:0030552 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030552 GO_process GO:0035725 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035725 GO_process GO:0042391 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042391 GO_process GO:0071805 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071805 GO_process GO:0072718 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0072718 GO_process GO:1903351 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903351 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 2.60.120.10 http://www.cathdb.info/version/latest/superfamily/2.60.120.10 GeneCards HCN3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=HCN3 GeneID 57657 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=57657 GeneTree ENSGT00760000118772 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118772 H-InvDB HIX0001125 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0001125 HGNC HGNC:19183 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:19183 HOGENOM HOG000230717 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000230717&db=HOGENOM6 HOVERGEN HBG039489 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG039489&db=HOVERGEN HPA HPA026584 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA026584 InParanoid Q9P1Z3 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9P1Z3 InterPro IPR000595 http://www.ebi.ac.uk/interpro/entry/IPR000595 InterPro IPR003938 http://www.ebi.ac.uk/interpro/entry/IPR003938 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR013621 http://www.ebi.ac.uk/interpro/entry/IPR013621 InterPro IPR014710 http://www.ebi.ac.uk/interpro/entry/IPR014710 InterPro IPR018490 http://www.ebi.ac.uk/interpro/entry/IPR018490 Jabion 57657 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=57657 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:57657 http://www.genome.jp/dbget-bin/www_bget?hsa:57657 KEGG_Orthology KO:K04956 http://www.genome.jp/dbget-bin/www_bget?KO:K04956 MIM 609973 http://www.ncbi.nlm.nih.gov/omim/609973 OMA VMEQHLV http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=VMEQHLV OrthoDB EOG091G0JQU http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0JQU PRINTS PR01463 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01463 PROSITE PS50042 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50042 PSORT swissprot:HCN3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:HCN3_HUMAN PSORT-B swissprot:HCN3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:HCN3_HUMAN PSORT2 swissprot:HCN3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:HCN3_HUMAN Pfam PF00027 http://pfam.xfam.org/family/PF00027 Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF08412 http://pfam.xfam.org/family/PF08412 PharmGKB PA38821 http://www.pharmgkb.org/do/serve?objId=PA38821&objCls=Gene Phobius swissprot:HCN3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:HCN3_HUMAN PhylomeDB Q9P1Z3 http://phylomedb.org/?seqid=Q9P1Z3 ProteinModelPortal Q9P1Z3 http://www.proteinmodelportal.org/query/uniprot/Q9P1Z3 PubMed 10819331 http://www.ncbi.nlm.nih.gov/pubmed/10819331 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16043489 http://www.ncbi.nlm.nih.gov/pubmed/16043489 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 Reactome R-HSA-1296061 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1296061 RefSeq NP_065948 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_065948 SMART SM00100 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00100 SMR Q9P1Z3 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9P1Z3 STRING 9606.ENSP00000357342 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000357342&targetmode=cogs SUPFAM SSF51206 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF51206 UCSC uc001fjz http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001fjz&org=rat UniGene Hs.706960 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.706960 UniProtKB HCN3_HUMAN http://www.uniprot.org/uniprot/HCN3_HUMAN UniProtKB-AC Q9P1Z3 http://www.uniprot.org/uniprot/Q9P1Z3 charge swissprot:HCN3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:HCN3_HUMAN eggNOG ENOG410XPSE http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XPSE eggNOG KOG0498 http://eggnogapi.embl.de/nog_data/html/tree/KOG0498 epestfind swissprot:HCN3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:HCN3_HUMAN garnier swissprot:HCN3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:HCN3_HUMAN helixturnhelix swissprot:HCN3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:HCN3_HUMAN hmoment swissprot:HCN3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:HCN3_HUMAN iep swissprot:HCN3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:HCN3_HUMAN inforesidue swissprot:HCN3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:HCN3_HUMAN neXtProt NX_Q9P1Z3 http://www.nextprot.org/db/entry/NX_Q9P1Z3 octanol swissprot:HCN3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:HCN3_HUMAN pepcoil swissprot:HCN3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:HCN3_HUMAN pepdigest swissprot:HCN3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:HCN3_HUMAN pepinfo swissprot:HCN3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:HCN3_HUMAN pepnet swissprot:HCN3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:HCN3_HUMAN pepstats swissprot:HCN3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:HCN3_HUMAN pepwheel swissprot:HCN3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:HCN3_HUMAN pepwindow swissprot:HCN3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:HCN3_HUMAN sigcleave swissprot:HCN3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:HCN3_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS AT2B3_HUMAN Event=Alternative splicing; Named isoforms=8; Comment=There is a combination of two alternatively spliced domains at N-terminal site A (X and Z) and at C-terminal site C (A, B, E and G). The splice sites have mostly been studied independently. Full isoforms so far detected are isoform XA and isoform XB. Experimental confirmation may be lacking for some isoforms.; Name=XB; Synonyms=AIICI; IsoId=Q16720-1; Sequence=Displayed; Name=XA; Synonyms=AIICII; IsoId=Q16720-2; Sequence=VSP_000393; Name=ZA; Synonyms=AICII; IsoId=Q16720-3; Sequence=VSP_000392, VSP_000393; Name=ZB; Synonyms=AICI; IsoId=Q16720-4; Sequence=VSP_000392; Name=XE; Synonyms=AIICV; IsoId=Q16720-5; Sequence=VSP_000394; Name=ZE; Synonyms=AICV; IsoId=Q16720-6; Sequence=VSP_000392, VSP_000394; Name=XG; Synonyms=AIICVII; IsoId=Q16720-7; Sequence=VSP_000395; Name=ZG; Synonyms=AICVII; IsoId=Q16720-8; Sequence=VSP_000392, VSP_000395; # AltName AT2B3_HUMAN Plasma membrane calcium ATPase isoform 3 # AltName AT2B3_HUMAN Plasma membrane calcium pump isoform 3 # BRENDA 3.6.3 2681 # BioGrid 106982 34 # CATALYTIC ACTIVITY AT2B3_HUMAN ATP + H(2)O + Ca(2+)(Side 1) = ADP + phosphate + Ca(2+)(Side 2). # CCDS CCDS14722 -. [Q16720-2] # CCDS CCDS35440 -. [Q16720-1] # ChiTaRS ATP2B3 human # DISEASE AT2B3_HUMAN Spinocerebellar ataxia, X-linked 1 (SCAX1) [MIM 302500] Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAX1 is characterized by hypotonia at birth, delayed motor development, gait ataxia, difficulty standing, dysarthria, and slow eye movements. Brain MRI shows cerebellar ataxia. {ECO 0000269|PubMed 22912398}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000263519 ENSP00000263519; ENSG00000067842. [Q16720-1] # Ensembl ENST00000349466 ENSP00000343886; ENSG00000067842. [Q16720-1] # Ensembl ENST00000359149 ENSP00000352062; ENSG00000067842. [Q16720-2] # Ensembl ENST00000370186 ENSP00000359205; ENSG00000067842. [Q16720-3] # Ensembl ENST00000393842 ENSP00000377425; ENSG00000067842. [Q16720-6] # FUNCTION AT2B3_HUMAN This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium out of the cell. # GO_component GO:0005794 Golgi apparatus; IDA:HPA. # GO_component GO:0005886 plasma membrane; IDA:HPA. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0043231 intracellular membrane-bounded organelle; IBA:GO_Central. # GO_component GO:1903561 extracellular vesicle; IDA:UniProtKB. # GO_function GO:0005388 calcium-transporting ATPase activity; TAS:Reactome. # GO_function GO:0005524 ATP binding; IEA:UniProtKB-KW. # GO_function GO:0030165 PDZ domain binding; IBA:GO_Central. # GO_function GO:0046872 metal ion binding; IEA:UniProtKB-KW. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0006874 cellular calcium ion homeostasis; IBA:GO_Central. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:1903779 regulation of cardiac conduction; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005794 Golgi apparatus # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.20.1110.10 -; 3. # Genevisible Q16720 HS # HGNC HGNC:816 ATP2B3 # IntAct Q16720 2 # InterPro IPR001757 P_typ_ATPase # InterPro IPR004014 ATPase_P-typ_cation-transptr_N # InterPro IPR006068 ATPase_P-typ_cation-transptr_C # InterPro IPR006408 P-type_ATPase_IIB # InterPro IPR008250 ATPase_P-typ_transduc_dom_A # InterPro IPR018303 ATPase_P-typ_P_site # InterPro IPR022141 ATP_Ca_trans_C # InterPro IPR023214 HAD-like_dom # InterPro IPR023298 ATPase_P-typ_TM_dom # InterPro IPR023299 ATPase_P-typ_cyto_domN # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko01000 Enzymes # KEGG_Disease H01603 [Endocrine disease] Primary aldosteronism # KEGG_Pathway ko04020 Calcium signaling pathway # KEGG_Pathway ko04970 Salivary secretion # KEGG_Pathway ko04972 Pancreatic secretion # MIM 300014 gene # MIM 302500 phenotype # Organism AT2B3_HUMAN Homo sapiens (Human) # Orphanet 314978 X-linked non progressive cerebellar ataxia # Orphanet 85142 Aldosterone-producing adenoma # PROSITE PS00154 ATPASE_E1_E2 # Pfam PF00122 E1-E2_ATPase; 2 # Pfam PF00689 Cation_ATPase_C # Pfam PF00690 Cation_ATPase_N # Pfam PF08282 Hydrolase_3 # Pfam PF12424 ATP_Ca_trans_C # Proteomes UP000005640 Chromosome X # Reactome R-HSA-418359 Reduction of cytosolic Ca++ levels # Reactome R-HSA-5578775 Ion homeostasis # Reactome R-HSA-936837 Ion transport by P-type ATPases # RecName AT2B3_HUMAN Plasma membrane calcium-transporting ATPase 3 # RefSeq NP_001001344 NM_001001344.2. [Q16720-1] # RefSeq NP_068768 NM_021949.3. [Q16720-2] # RefSeq XP_005274747 XM_005274690.3. [Q16720-1] # RefSeq XP_005274748 XM_005274691.3. [Q16720-4] # RefSeq XP_005274749 XM_005274692.3. [Q16720-2] # SIMILARITY Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIB subfamily. {ECO 0000305}. # SMART SM00831 Cation_ATPase_N # SUBCELLULAR LOCATION AT2B3_HUMAN Cell membrane; Multi-pass membrane protein. # SUBUNIT Interacts with PDZD11. {ECO:0000269|PubMed 12763866}. # SUPFAM SSF56784 SSF56784; 2 # SUPFAM SSF81660 SSF81660 # TIGRFAMs TIGR01494 ATPase_P-type; 3 # TIGRFAMs TIGR01517 ATPase-IIB_Ca # TISSUE SPECIFICITY Highly expressed in the cerebellum, particulary in the presynaptic terminals of parallel fibers- Purkinje neurons. Isoform XE and isoform XB are the most abundant isoforms and are detected at low levels in brain and fetal skeletal muscle. The other isoforms are only found at lower levels and not in fetal tissues. {ECO:0000269|PubMed 22912398}. # UCSC uc004fhs human. [Q16720-1] # eggNOG ENOG410XNNC LUCA # eggNOG KOG0204 Eukaryota BLAST swissprot:AT2B3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:AT2B3_HUMAN BioCyc ZFISH:HS00921-MONOMER http://biocyc.org/getid?id=ZFISH:HS00921-MONOMER COXPRESdb 492 http://coxpresdb.jp/data/gene/492.shtml CleanEx HS_ATP2B3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ATP2B3 DOI 10.1016/0005-2736(96)00108-3 http://dx.doi.org/10.1016/0005-2736(96)00108-3 DOI 10.1038/nature03440 http://dx.doi.org/10.1038/nature03440 DOI 10.1073/pnas.1207488109 http://dx.doi.org/10.1073/pnas.1207488109 DOI 10.1101/gr.10.6.758 http://dx.doi.org/10.1101/gr.10.6.758 DOI 10.1111/j.1749-6632.2003.tb07230.x http://dx.doi.org/10.1111/j.1749-6632.2003.tb07230.x EC_number EC:3.6.3.8 http://www.genome.jp/dbget-bin/www_bget?EC:3.6.3.8 EMBL AH006061 http://www.ebi.ac.uk/ena/data/view/AH006061 EMBL CH471172 http://www.ebi.ac.uk/ena/data/view/CH471172 EMBL U15689 http://www.ebi.ac.uk/ena/data/view/U15689 EMBL U15690 http://www.ebi.ac.uk/ena/data/view/U15690 EMBL U57971 http://www.ebi.ac.uk/ena/data/view/U57971 EMBL U60414 http://www.ebi.ac.uk/ena/data/view/U60414 EMBL U82695 http://www.ebi.ac.uk/ena/data/view/U82695 ENZYME 3.6.3.8 http://enzyme.expasy.org/EC/3.6.3.8 Ensembl ENST00000263519 http://www.ensembl.org/id/ENST00000263519 Ensembl ENST00000349466 http://www.ensembl.org/id/ENST00000349466 Ensembl ENST00000359149 http://www.ensembl.org/id/ENST00000359149 Ensembl ENST00000370186 http://www.ensembl.org/id/ENST00000370186 Ensembl ENST00000393842 http://www.ensembl.org/id/ENST00000393842 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0043231 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043231 GO_component GO:1903561 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903561 GO_function GO:0005388 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005388 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0030165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030165 GO_function GO:0046872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046872 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0006874 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006874 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:1903779 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903779 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.20.1110.10 http://www.cathdb.info/version/latest/superfamily/1.20.1110.10 GeneCards ATP2B3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ATP2B3 GeneID 492 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=492 GeneTree ENSGT00510000046331 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00510000046331 H-InvDB HIX0017131 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0017131 HGNC HGNC:816 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:816 HOGENOM HOG000265623 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000265623&db=HOGENOM6 HOVERGEN HBG061286 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG061286&db=HOVERGEN HPA HPA001583 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA001583 InParanoid Q16720 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q16720 IntAct Q16720 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q16720* IntEnz 3.6.3.8 http://www.ebi.ac.uk/intenz/query?cmd=Search&q=3.6.3.8 InterPro IPR001757 http://www.ebi.ac.uk/interpro/entry/IPR001757 InterPro IPR004014 http://www.ebi.ac.uk/interpro/entry/IPR004014 InterPro IPR006068 http://www.ebi.ac.uk/interpro/entry/IPR006068 InterPro IPR006408 http://www.ebi.ac.uk/interpro/entry/IPR006408 InterPro IPR008250 http://www.ebi.ac.uk/interpro/entry/IPR008250 InterPro IPR018303 http://www.ebi.ac.uk/interpro/entry/IPR018303 InterPro IPR022141 http://www.ebi.ac.uk/interpro/entry/IPR022141 InterPro IPR023214 http://www.ebi.ac.uk/interpro/entry/IPR023214 InterPro IPR023298 http://www.ebi.ac.uk/interpro/entry/IPR023298 InterPro IPR023299 http://www.ebi.ac.uk/interpro/entry/IPR023299 Jabion 492 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=492 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Disease H01603 http://www.genome.jp/dbget-bin/www_bget?H01603 KEGG_Gene hsa:492 http://www.genome.jp/dbget-bin/www_bget?hsa:492 KEGG_Orthology KO:K05850 http://www.genome.jp/dbget-bin/www_bget?KO:K05850 KEGG_Pathway ko04020 http://www.genome.jp/kegg-bin/show_pathway?ko04020 KEGG_Pathway ko04970 http://www.genome.jp/kegg-bin/show_pathway?ko04970 KEGG_Pathway ko04972 http://www.genome.jp/kegg-bin/show_pathway?ko04972 MIM 300014 http://www.ncbi.nlm.nih.gov/omim/300014 MIM 302500 http://www.ncbi.nlm.nih.gov/omim/302500 MINT MINT-2807671 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-2807671 OMA GNPIFCT http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=GNPIFCT Orphanet 314978 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=314978 Orphanet 85142 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=85142 OrthoDB EOG091G057D http://cegg.unige.ch/orthodb/results?searchtext=EOG091G057D PROSITE PS00154 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00154 PSORT swissprot:AT2B3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:AT2B3_HUMAN PSORT-B swissprot:AT2B3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:AT2B3_HUMAN PSORT2 swissprot:AT2B3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:AT2B3_HUMAN Pfam PF00122 http://pfam.xfam.org/family/PF00122 Pfam PF00689 http://pfam.xfam.org/family/PF00689 Pfam PF00690 http://pfam.xfam.org/family/PF00690 Pfam PF08282 http://pfam.xfam.org/family/PF08282 Pfam PF12424 http://pfam.xfam.org/family/PF12424 PharmGKB PA25109 http://www.pharmgkb.org/do/serve?objId=PA25109&objCls=Gene Phobius swissprot:AT2B3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:AT2B3_HUMAN PhylomeDB Q16720 http://phylomedb.org/?seqid=Q16720 ProteinModelPortal Q16720 http://www.proteinmodelportal.org/query/uniprot/Q16720 PubMed 10854409 http://www.ncbi.nlm.nih.gov/pubmed/10854409 PubMed 12763866 http://www.ncbi.nlm.nih.gov/pubmed/12763866 PubMed 15772651 http://www.ncbi.nlm.nih.gov/pubmed/15772651 PubMed 22912398 http://www.ncbi.nlm.nih.gov/pubmed/22912398 PubMed 7989379 http://www.ncbi.nlm.nih.gov/pubmed/7989379 PubMed 8187550 http://www.ncbi.nlm.nih.gov/pubmed/8187550 PubMed 8245032 http://www.ncbi.nlm.nih.gov/pubmed/8245032 PubMed 8765088 http://www.ncbi.nlm.nih.gov/pubmed/8765088 Reactome R-HSA-418359 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-418359 Reactome R-HSA-5578775 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5578775 Reactome R-HSA-936837 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-936837 RefSeq NP_001001344 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001001344 RefSeq NP_068768 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_068768 RefSeq XP_005274747 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005274747 RefSeq XP_005274748 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005274748 RefSeq XP_005274749 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005274749 SMART SM00831 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00831 STRING 9606.ENSP00000263519 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000263519&targetmode=cogs SUPFAM SSF56784 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF56784 SUPFAM SSF81660 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81660 TIGRFAMs TIGR01494 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01494 TIGRFAMs TIGR01517 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01517 UCSC uc004fhs http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc004fhs&org=rat UniGene Hs.533956 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.533956 UniGene Hs.658008 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.658008 UniProtKB AT2B3_HUMAN http://www.uniprot.org/uniprot/AT2B3_HUMAN UniProtKB-AC Q16720 http://www.uniprot.org/uniprot/Q16720 charge swissprot:AT2B3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:AT2B3_HUMAN eggNOG ENOG410XNNC http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XNNC eggNOG KOG0204 http://eggnogapi.embl.de/nog_data/html/tree/KOG0204 epestfind swissprot:AT2B3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:AT2B3_HUMAN garnier swissprot:AT2B3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:AT2B3_HUMAN helixturnhelix swissprot:AT2B3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:AT2B3_HUMAN hmoment swissprot:AT2B3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:AT2B3_HUMAN iep swissprot:AT2B3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:AT2B3_HUMAN inforesidue swissprot:AT2B3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:AT2B3_HUMAN neXtProt NX_Q16720 http://www.nextprot.org/db/entry/NX_Q16720 octanol swissprot:AT2B3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:AT2B3_HUMAN pepcoil swissprot:AT2B3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:AT2B3_HUMAN pepdigest swissprot:AT2B3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:AT2B3_HUMAN pepinfo swissprot:AT2B3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:AT2B3_HUMAN pepnet swissprot:AT2B3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:AT2B3_HUMAN pepstats swissprot:AT2B3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:AT2B3_HUMAN pepwheel swissprot:AT2B3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:AT2B3_HUMAN pepwindow swissprot:AT2B3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:AT2B3_HUMAN sigcleave swissprot:AT2B3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:AT2B3_HUMAN ## Database ID URL or Descriptions # AltName EAA3_HUMAN Excitatory amino-acid carrier 1 # AltName EAA3_HUMAN Neuronal and epithelial glutamate transporter # AltName EAA3_HUMAN Sodium-dependent glutamate/aspartate transporter 3 # AltName EAA3_HUMAN Solute carrier family 1 member 1 # BioGrid 112396 33 # ChiTaRS SLC1A1 human # DISEASE EAA3_HUMAN Dicarboxylic aminoaciduria (DCBXA) [MIM 222730] An autosomal recessive disorder characterized by abnormal excretion of urinary glutamate and aspartate, resulting from the incomplete reabsorption of anionic amino acids from the glomerular filtrate in the kidney. It can be associated with mental retardation. {ECO 0000269|PubMed 21123949}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE EAA3_HUMAN Schizophrenia 18 (SCZD18) [MIM 615232] A complex, multifactorial psychotic disorder or group of disorders characterized by disturbances in the form and content of thought (e.g. delusions, hallucinations), in mood (e.g. inappropriate affect), in sense of self and relationship to the external world (e.g. loss of ego boundaries, withdrawal), and in behavior (e.g bizarre or apparently purposeless behavior). Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. Some patients manifest schizophrenic as well as bipolar disorder symptoms and are often given the diagnosis of schizoaffective disorder. {ECO 0000269|PubMed 21982423, ECO 0000269|PubMed 23341099}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. A deletion at the chromosome 9p24.2 locus, including SLC1A1, has been identified in patients with psychotic disorders (PubMed 21982423). This 84 kb deletion is immediately upstream of the SLC1A1 gene in a regulatory region that contains the full native promoter sequence, extends through exon 1 of the SLC1A1 mRNA, co-segregates with disease in an extended 5-generation pedigree and increases disease risk more than 18-fold for family members (PubMed 23341099). {ECO 0000269|PubMed 21982423, ECO 0000269|PubMed 23341099}. # DrugBank DB00128 L-Aspartic Acid # DrugBank DB00230 Pregabalin # Ensembl ENST00000262352 ENSP00000262352; ENSG00000106688 # ExpressionAtlas P43005 baseline and differential # FUNCTION EAA3_HUMAN Transports L-glutamate, L- and D-aspartate and L-cystein (PubMed 21123949). Essential for terminating the postsynaptic action of glutamate by rapidly removing released glutamate from the synaptic cleft. Acts as a symport by cotransporting sodium. Negatively regulated by ARL6IP5 (By similarity). {ECO 0000250|UniProtKB P51906, ECO 0000250|UniProtKB P51907, ECO 0000269|PubMed 21123949}. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0016020 membrane; TAS:ProtInc. # GO_component GO:0016324 apical plasma membrane; IDA:UniProtKB. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function EAA3_HUMAN GO 0015501 glutamate sodium symporter activity; IEA Ensembl. # GO_function GO:0005313 L-glutamate transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0005314 high-affinity glutamate transmembrane transporter activity; TAS:Reactome. # GO_function GO:0015171 amino acid transmembrane transporter activity; TAS:Reactome. # GO_function GO:0016595 glutamate binding; IEA:Ensembl. # GO_function GO:0033229 cysteine transmembrane transporter activity; IDA:UniProtKB. # GO_process GO:0006811 ion transport; TAS:Reactome. # GO_process GO:0007268 chemical synaptic transmission; TAS:ProtInc. # GO_process GO:0010460 positive regulation of heart rate; IEA:Ensembl. # GO_process GO:0014047 glutamate secretion; TAS:Reactome. # GO_process GO:0042883 cysteine transport; IDA:UniProtKB. # GO_process GO:0051260 protein homooligomerization; IEA:Ensembl. # GO_process GO:0051938 L-glutamate import; IDA:UniProtKB. # GO_process GO:0070779 D-aspartate import; IDA:UniProtKB. # GO_process GO:0089711 L-glutamate transmembrane transport; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.10.3860.10 -; 2. # Genevisible P43005 HS # HGNC HGNC:10939 SLC1A1 # INTERACTION EAA3_HUMAN Q5T700 LDLRAD1; NbExp=3; IntAct=EBI-745376, EBI-10173166; Q99942 RNF5; NbExp=3; IntAct=EBI-745376, EBI-348482; # IntAct P43005 3 # InterPro IPR001991 Na-dicarboxylate_symporter # InterPro IPR018107 Na-dicarboxylate_symporter_CS # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02001 Solute carrier family # KEGG_Disease H00911 [Urinary system disease; Kidney disease; Inherited metabolic disease] Dicarboxylic aminoaciduria # KEGG_Disease H01450 [Mental and behavioural disorders] Obsessive-compulsive disorder (OCD) # KEGG_Pathway ko04724 Glutamatergic synapse # KEGG_Pathway ko04974 Protein digestion and absorption # MIM 133550 gene # MIM 222730 phenotype # MIM 615232 phenotype # Organism EAA3_HUMAN Homo sapiens (Human) # Orphanet 2195 Dicarboxylic aminoaciduria # Orphanet 3140 Schizophrenia # PANTHER PTHR11958 PTHR11958 # PIR A54856 A54856 # PIR I38433 I38433 # PIR I38560 I38560 # PRINTS PR00173 EDTRNSPORT # PROSITE PS00713 NA_DICARBOXYL_SYMP_1 # PROSITE PS00714 NA_DICARBOXYL_SYMP_2 # PTM EAA3_HUMAN Glycosylated. # Pfam PF00375 SDF # Proteomes UP000005640 Chromosome 9 # Reactome R-HSA-210500 Glutamate Neurotransmitter Release Cycle # Reactome R-HSA-425393 Transport of inorganic cations/anions and amino acids/oligopeptides # RecName EAA3_HUMAN Excitatory amino acid transporter 3 # RefSeq NP_004161 NM_004170.5 # SIMILARITY Belongs to the dicarboxylate/amino acid:cation symporter (DAACS) (TC 2.A.23) family. SLC1A1 subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION EAA3_HUMAN Cell membrane {ECO 0000269|PubMed 21123949}; Multi-pass membrane protein. Apical cell membrane {ECO 0000269|PubMed 21123949}; Multi-pass membrane protein. Membrane; Multi-pass membrane protein. # SUBUNIT Interacts with ARL6IP5. {ECO:0000250|UniProtKB P51906}. # SUPFAM SSF118215 SSF118215; 2 # TCDB 2.A.23.2:the dicarboxylate/amino acid cation (na(+) or h(+)) symporter (daacs) family # TISSUE SPECIFICITY EAA3_HUMAN Expressed in all tissues tested including liver, muscle, testis, ovary, retinoblastoma cell line, neurons and brain (in which there was dense expression in substantia nigra, red nucleus, hippocampus and in cerebral cortical layers). {ECO 0000269|PubMed 7521911, ECO 0000269|PubMed 7859077, ECO 0000269|PubMed 7914198}. # UCSC uc003zij human # eggNOG COG1301 LUCA # eggNOG KOG3787 Eukaryota BLAST swissprot:EAA3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:EAA3_HUMAN BioCyc ZFISH:ENSG00000106688-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000106688-MONOMER COXPRESdb 6505 http://coxpresdb.jp/data/gene/6505.shtml CleanEx HS_SLC1A1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC1A1 DOI 10.1002/ajmg.b.32125 http://dx.doi.org/10.1002/ajmg.b.32125 DOI 10.1016/0006-8993(94)90819-2 http://dx.doi.org/10.1016/0006-8993(94)90819-2 DOI 10.1016/j.biopsych.2011.08.009 http://dx.doi.org/10.1016/j.biopsych.2011.08.009 DOI 10.1038/nature02465 http://dx.doi.org/10.1038/nature02465 DOI 10.1038/sj.mp.4000806 http://dx.doi.org/10.1038/sj.mp.4000806 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1172/JCI44474 http://dx.doi.org/10.1172/JCI44474 DrugBank DB00128 http://www.drugbank.ca/drugs/DB00128 DrugBank DB00230 http://www.drugbank.ca/drugs/DB00230 EMBL AB008536 http://www.ebi.ac.uk/ena/data/view/AB008536 EMBL AF037982 http://www.ebi.ac.uk/ena/data/view/AF037982 EMBL AF074903 http://www.ebi.ac.uk/ena/data/view/AF074903 EMBL AF074904 http://www.ebi.ac.uk/ena/data/view/AF074904 EMBL AF074905 http://www.ebi.ac.uk/ena/data/view/AF074905 EMBL AF074906 http://www.ebi.ac.uk/ena/data/view/AF074906 EMBL AF074907 http://www.ebi.ac.uk/ena/data/view/AF074907 EMBL AF074908 http://www.ebi.ac.uk/ena/data/view/AF074908 EMBL AF074909 http://www.ebi.ac.uk/ena/data/view/AF074909 EMBL AF074910 http://www.ebi.ac.uk/ena/data/view/AF074910 EMBL AF074911 http://www.ebi.ac.uk/ena/data/view/AF074911 EMBL AF143773 http://www.ebi.ac.uk/ena/data/view/AF143773 EMBL AL136231 http://www.ebi.ac.uk/ena/data/view/AL136231 EMBL AL136231 http://www.ebi.ac.uk/ena/data/view/AL136231 EMBL AL162587 http://www.ebi.ac.uk/ena/data/view/AL162587 EMBL AL162587 http://www.ebi.ac.uk/ena/data/view/AL162587 EMBL BC033040 http://www.ebi.ac.uk/ena/data/view/BC033040 EMBL U03506 http://www.ebi.ac.uk/ena/data/view/U03506 EMBL U06469 http://www.ebi.ac.uk/ena/data/view/U06469 EMBL U08989 http://www.ebi.ac.uk/ena/data/view/U08989 Ensembl ENST00000262352 http://www.ensembl.org/id/ENST00000262352 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0005313 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005313 GO_function GO:0005314 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005314 GO_function GO:0015171 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015171 GO_function GO:0015501 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015501 GO_function GO:0016595 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016595 GO_function GO:0033229 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033229 GO_process GO:0006811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006811 GO_process GO:0007268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007268 GO_process GO:0010460 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010460 GO_process GO:0014047 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014047 GO_process GO:0042883 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042883 GO_process GO:0051260 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051260 GO_process GO:0051938 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051938 GO_process GO:0070779 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070779 GO_process GO:0089711 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0089711 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.10.3860.10 http://www.cathdb.info/version/latest/superfamily/1.10.3860.10 GeneCards SLC1A1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC1A1 GeneID 6505 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6505 GeneTree ENSGT00760000119117 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119117 HGNC HGNC:10939 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10939 HOGENOM HOG000208776 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000208776&db=HOGENOM6 HOVERGEN HBG000080 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG000080&db=HOVERGEN HPA CAB015466 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB015466 HPA HPA020086 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA020086 InParanoid P43005 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P43005 IntAct P43005 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P43005* InterPro IPR001991 http://www.ebi.ac.uk/interpro/entry/IPR001991 InterPro IPR018107 http://www.ebi.ac.uk/interpro/entry/IPR018107 Jabion 6505 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6505 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Disease H00911 http://www.genome.jp/dbget-bin/www_bget?H00911 KEGG_Disease H01450 http://www.genome.jp/dbget-bin/www_bget?H01450 KEGG_Gene hsa:6505 http://www.genome.jp/dbget-bin/www_bget?hsa:6505 KEGG_Orthology KO:K05612 http://www.genome.jp/dbget-bin/www_bget?KO:K05612 KEGG_Pathway ko04724 http://www.genome.jp/kegg-bin/show_pathway?ko04724 KEGG_Pathway ko04974 http://www.genome.jp/kegg-bin/show_pathway?ko04974 MIM 133550 http://www.ncbi.nlm.nih.gov/omim/133550 MIM 222730 http://www.ncbi.nlm.nih.gov/omim/222730 MIM 615232 http://www.ncbi.nlm.nih.gov/omim/615232 OMA CEKKSYV http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=CEKKSYV Orphanet 2195 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=2195 Orphanet 3140 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=3140 OrthoDB EOG091G0UCE http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0UCE PANTHER PTHR11958 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11958 PRINTS PR00173 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00173 PROSITE PS00713 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00713 PROSITE PS00714 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00714 PSORT swissprot:EAA3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:EAA3_HUMAN PSORT-B swissprot:EAA3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:EAA3_HUMAN PSORT2 swissprot:EAA3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:EAA3_HUMAN Pfam PF00375 http://pfam.xfam.org/family/PF00375 PharmGKB PA35826 http://www.pharmgkb.org/do/serve?objId=PA35826&objCls=Gene Phobius swissprot:EAA3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:EAA3_HUMAN PhylomeDB P43005 http://phylomedb.org/?seqid=P43005 ProteinModelPortal P43005 http://www.proteinmodelportal.org/query/uniprot/P43005 PubMed 11317217 http://www.ncbi.nlm.nih.gov/pubmed/11317217 PubMed 15164053 http://www.ncbi.nlm.nih.gov/pubmed/15164053 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 21123949 http://www.ncbi.nlm.nih.gov/pubmed/21123949 PubMed 21982423 http://www.ncbi.nlm.nih.gov/pubmed/21982423 PubMed 23341099 http://www.ncbi.nlm.nih.gov/pubmed/23341099 PubMed 7521911 http://www.ncbi.nlm.nih.gov/pubmed/7521911 PubMed 7859077 http://www.ncbi.nlm.nih.gov/pubmed/7859077 PubMed 7914198 http://www.ncbi.nlm.nih.gov/pubmed/7914198 Reactome R-HSA-210500 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-210500 Reactome R-HSA-425393 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-425393 RefSeq NP_004161 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004161 STRING 9606.ENSP00000262352 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000262352&targetmode=cogs SUPFAM SSF118215 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF118215 TCDB 2.A.23.2 http://www.tcdb.org/search/result.php?tc=2.A.23.2 UCSC uc003zij http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003zij&org=rat UniGene Hs.444915 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.444915 UniProtKB EAA3_HUMAN http://www.uniprot.org/uniprot/EAA3_HUMAN UniProtKB-AC P43005 http://www.uniprot.org/uniprot/P43005 charge swissprot:EAA3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:EAA3_HUMAN eggNOG COG1301 http://eggnogapi.embl.de/nog_data/html/tree/COG1301 eggNOG KOG3787 http://eggnogapi.embl.de/nog_data/html/tree/KOG3787 epestfind swissprot:EAA3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:EAA3_HUMAN garnier swissprot:EAA3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:EAA3_HUMAN helixturnhelix swissprot:EAA3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:EAA3_HUMAN hmoment swissprot:EAA3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:EAA3_HUMAN iep swissprot:EAA3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:EAA3_HUMAN inforesidue swissprot:EAA3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:EAA3_HUMAN neXtProt NX_P43005 http://www.nextprot.org/db/entry/NX_P43005 octanol swissprot:EAA3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:EAA3_HUMAN pepcoil swissprot:EAA3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:EAA3_HUMAN pepdigest swissprot:EAA3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:EAA3_HUMAN pepinfo swissprot:EAA3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:EAA3_HUMAN pepnet swissprot:EAA3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:EAA3_HUMAN pepstats swissprot:EAA3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:EAA3_HUMAN pepwheel swissprot:EAA3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:EAA3_HUMAN pepwindow swissprot:EAA3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:EAA3_HUMAN sigcleave swissprot:EAA3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:EAA3_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS ABCA8_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=O94911-1; Sequence=Displayed; Name=2; IsoId=O94911-2; Sequence=VSP_020703; Note=No experimental confirmation available.; Name=3; IsoId=O94911-3; Sequence=VSP_053440; Note=No experimental confirmation available.; # BIOPHYSICOCHEMICAL PROPERTIES ABCA8_HUMAN Kinetic parameters KM=30.4 uM for estradiol-beta-glucuronide {ECO 0000269|PubMed 12379217}; KM=0.1 uM for LTC4 {ECO 0000269|PubMed 12379217}; KM=10.3 uM for taurochlorate {ECO 0000269|PubMed 12379217}; KM=5.0 uM for PAH {ECO 0000269|PubMed 12379217}; KM=0.5 uM for estrone sulfate {ECO 0000269|PubMed 12379217}; KM=0.4 uM for ochratoxin A {ECO 0000269|PubMed 12379217}; # CCDS CCDS11680 -. [O94911-1] # CCDS CCDS74139 -. [O94911-3] # ChiTaRS ABCA8 human # Ensembl ENST00000269080 ENSP00000269080; ENSG00000141338. [O94911-1] # Ensembl ENST00000586539 ENSP00000467271; ENSG00000141338. [O94911-3] # ExpressionAtlas O94911 baseline and differential # FUNCTION ABCA8_HUMAN ATP-dependent lipophilic drug transporter. {ECO 0000269|PubMed 12379217}. # GO_component GO:0005743 mitochondrial inner membrane; IBA:GO_Central. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0005524 ATP binding; IEA:UniProtKB-KW. # GO_function GO:0008559 xenobiotic-transporting ATPase activity; TAS:Reactome. # GO_function GO:0042626 ATPase activity, coupled to transmembrane movement of substances; IDA:MGI. # GO_process GO:0006810 transport; IDA:MGI. # GO_process GO:0006869 lipid transport; IBA:GO_Central. # GO_process GO:0055085 transmembrane transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0055085 transmembrane transport # Gene3D 3.40.50.300 -; 3. # Genevisible O94911 HS # HGNC HGNC:38 ABCA8 # InterPro IPR003439 ABC_transporter-like # InterPro IPR003593 AAA+_ATPase # InterPro IPR026082 ABC_A # InterPro IPR027417 P-loop_NTPase # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02000 Transporters # KEGG_Pathway ko02010 ABC transporters # MIM 612505 gene # Organism ABCA8_HUMAN Homo sapiens (Human) # PANTHER PTHR19229 PTHR19229 # PROSITE PS50893 ABC_TRANSPORTER_2; 2 # Pfam PF00005 ABC_tran; 2 # Proteomes UP000005640 Chromosome 17 # Reactome R-HSA-382556 ABC-family proteins mediated transport # RecName ABCA8_HUMAN ATP-binding cassette sub-family A member 8 # RefSeq NP_001275914 NM_001288985.1. [O94911-3] # RefSeq NP_001275915 NM_001288986.1 # RefSeq NP_009099 NM_007168.3. [O94911-1] # RefSeq XP_005256995 XM_005256938.2. [O94911-3] # SEQUENCE CAUTION Sequence=BAA74845.2; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the ABC transporter superfamily. ABCA family. {ECO 0000305}. # SIMILARITY Contains 2 ABC transporter domains. {ECO:0000255|PROSITE-ProRule PRU00434}. # SMART SM00382 AAA; 2 # SUBCELLULAR LOCATION ABCA8_HUMAN Cell membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # SUPFAM SSF52540 SSF52540; 2 # TCDB 3.A.1.211 the atp-binding cassette (abc) superfamily # TISSUE SPECIFICITY Widely expressed with higher expression in heart, skeletal muscle and liver. {ECO:0000269|PubMed 12379217}. # UCSC uc002jhp human. [O94911-1] # WEB RESOURCE ABCA8_HUMAN Name=ABCMdb; Note=Database for mutations in ABC proteins; URL="http //abcmutations.hegelab.org/proteinDetails?uniprot_id=O94911"; # eggNOG COG1131 LUCA # eggNOG KOG0059 Eukaryota BLAST swissprot:ABCA8_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ABCA8_HUMAN BioCyc ZFISH:ENSG00000141338-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000141338-MONOMER COXPRESdb 10351 http://coxpresdb.jp/data/gene/10351.shtml CleanEx HS_ABCA8 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ABCA8 DOI 10.1007/s100380200041 http://dx.doi.org/10.1007/s100380200041 DOI 10.1016/S0006-291X(02)02389-6 http://dx.doi.org/10.1016/S0006-291X(02)02389-6 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/pr8008012 http://dx.doi.org/10.1021/pr8008012 DOI 10.1038/nature04689 http://dx.doi.org/10.1038/nature04689 DOI 10.1093/dnares/5.6.355 http://dx.doi.org/10.1093/dnares/5.6.355 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AB020629 http://www.ebi.ac.uk/ena/data/view/AB020629 EMBL AC005922 http://www.ebi.ac.uk/ena/data/view/AC005922 EMBL AC015844 http://www.ebi.ac.uk/ena/data/view/AC015844 EMBL BC024003 http://www.ebi.ac.uk/ena/data/view/BC024003 EMBL BC047765 http://www.ebi.ac.uk/ena/data/view/BC047765 EMBL BC094689 http://www.ebi.ac.uk/ena/data/view/BC094689 EMBL BC130280 http://www.ebi.ac.uk/ena/data/view/BC130280 Ensembl ENST00000269080 http://www.ensembl.org/id/ENST00000269080 Ensembl ENST00000586539 http://www.ensembl.org/id/ENST00000586539 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0008559 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008559 GO_function GO:0042626 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042626 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0006869 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006869 GO_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 3.40.50.300 http://www.cathdb.info/version/latest/superfamily/3.40.50.300 GeneCards ABCA8 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ABCA8 GeneID 10351 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=10351 GeneTree ENSGT00760000118965 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118965 H-InvDB HIX0014119 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0014119 H-InvDB HIX0173681 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0173681 HGNC HGNC:38 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:38 HOGENOM HOG000231057 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231057&db=HOGENOM6 HOVERGEN HBG079884 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG079884&db=HOVERGEN HPA HPA044914 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA044914 InParanoid O94911 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O94911 InterPro IPR003439 http://www.ebi.ac.uk/interpro/entry/IPR003439 InterPro IPR003593 http://www.ebi.ac.uk/interpro/entry/IPR003593 InterPro IPR026082 http://www.ebi.ac.uk/interpro/entry/IPR026082 InterPro IPR027417 http://www.ebi.ac.uk/interpro/entry/IPR027417 Jabion 10351 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=10351 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Gene hsa:10351 http://www.genome.jp/dbget-bin/www_bget?hsa:10351 KEGG_Orthology KO:K05650 http://www.genome.jp/dbget-bin/www_bget?KO:K05650 KEGG_Pathway ko02010 http://www.genome.jp/kegg-bin/show_pathway?ko02010 MIM 612505 http://www.ncbi.nlm.nih.gov/omim/612505 OMA FTANYPE http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=FTANYPE OrthoDB EOG091G00AG http://cegg.unige.ch/orthodb/results?searchtext=EOG091G00AG PANTHER PTHR19229 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR19229 PROSITE PS50893 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50893 PSORT swissprot:ABCA8_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ABCA8_HUMAN PSORT-B swissprot:ABCA8_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ABCA8_HUMAN PSORT2 swissprot:ABCA8_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ABCA8_HUMAN Pfam PF00005 http://pfam.xfam.org/family/PF00005 PharmGKB PA24383 http://www.pharmgkb.org/do/serve?objId=PA24383&objCls=Gene Phobius swissprot:ABCA8_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ABCA8_HUMAN PhylomeDB O94911 http://phylomedb.org/?seqid=O94911 ProteinModelPortal O94911 http://www.proteinmodelportal.org/query/uniprot/O94911 PubMed 10048485 http://www.ncbi.nlm.nih.gov/pubmed/10048485 PubMed 12111378 http://www.ncbi.nlm.nih.gov/pubmed/12111378 PubMed 12379217 http://www.ncbi.nlm.nih.gov/pubmed/12379217 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16625196 http://www.ncbi.nlm.nih.gov/pubmed/16625196 PubMed 19159218 http://www.ncbi.nlm.nih.gov/pubmed/19159218 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 Reactome R-HSA-382556 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-382556 RefSeq NP_001275914 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001275914 RefSeq NP_001275915 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001275915 RefSeq NP_009099 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_009099 RefSeq XP_005256995 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005256995 SMART SM00382 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00382 STRING 9606.ENSP00000269080 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000269080&targetmode=cogs SUPFAM SSF52540 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52540 TCDB 3.A.1.211 http://www.tcdb.org/search/result.php?tc=3.A.1.211 UCSC uc002jhp http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002jhp&org=rat UniGene Hs.58351 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.58351 UniProtKB ABCA8_HUMAN http://www.uniprot.org/uniprot/ABCA8_HUMAN UniProtKB-AC O94911 http://www.uniprot.org/uniprot/O94911 charge swissprot:ABCA8_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ABCA8_HUMAN eggNOG COG1131 http://eggnogapi.embl.de/nog_data/html/tree/COG1131 eggNOG KOG0059 http://eggnogapi.embl.de/nog_data/html/tree/KOG0059 epestfind swissprot:ABCA8_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ABCA8_HUMAN garnier swissprot:ABCA8_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ABCA8_HUMAN helixturnhelix swissprot:ABCA8_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ABCA8_HUMAN hmoment swissprot:ABCA8_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ABCA8_HUMAN iep swissprot:ABCA8_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ABCA8_HUMAN inforesidue swissprot:ABCA8_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ABCA8_HUMAN neXtProt NX_O94911 http://www.nextprot.org/db/entry/NX_O94911 octanol swissprot:ABCA8_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ABCA8_HUMAN pepcoil swissprot:ABCA8_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ABCA8_HUMAN pepdigest swissprot:ABCA8_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ABCA8_HUMAN pepinfo swissprot:ABCA8_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ABCA8_HUMAN pepnet swissprot:ABCA8_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ABCA8_HUMAN pepstats swissprot:ABCA8_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ABCA8_HUMAN pepwheel swissprot:ABCA8_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ABCA8_HUMAN pepwindow swissprot:ABCA8_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ABCA8_HUMAN sigcleave swissprot:ABCA8_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ABCA8_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S35A3_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9Y2D2-1; Sequence=Displayed; Name=2; IsoId=Q9Y2D2-2; Sequence=VSP_012786; Note=No experimental confirmation available.; Name=3; IsoId=Q9Y2D2-3; Sequence=VSP_054232, VSP_054233; Note=No experimental confirmation available.; # AltName S35A3_HUMAN Golgi UDP-GlcNAc transporter # AltName S35A3_HUMAN Solute carrier family 35 member A3 # BioGrid 117010 2 # CCDS CCDS60204 -. [Q9Y2D2-2] # CCDS CCDS60205 -. [Q9Y2D2-3] # CCDS CCDS762 -. [Q9Y2D2-1] # ChiTaRS SLC35A3 human # DISEASE S35A3_HUMAN Arthrogryposis, mental retardation, and seizures (AMRS) [MIM 615553] A disease characterized by arthrogryposis, mental retardation, autism spectrum disorder, and epilepsy. Additional features include limb malformations, distal joint involvement, microcephaly, retromicrognathia, and general muscle hypotonia. {ECO 0000269|PubMed 24031089}. Note=The disease is caused by mutations affecting the gene represented in this entry. In Golgi vesicles isolated from patient fibroblasts the transport of the respective nucleotide sugar is significantly reduced causing a massive decrease in the content of cell surface expressed highly branched N-glycans and a concomitant sharp increase of lower branched glycoforms. # Ensembl ENST00000370153 ENSP00000359172; ENSG00000117620. [Q9Y2D2-2] # Ensembl ENST00000427993 ENSP00000414947; ENSG00000117620. [Q9Y2D2-1] # Ensembl ENST00000465289 ENSP00000418527; ENSG00000117620. [Q9Y2D2-3] # Ensembl ENST00000533028 ENSP00000433849; ENSG00000117620. [Q9Y2D2-1] # ExpressionAtlas Q9Y2D2 baseline and differential # FUNCTION S35A3_HUMAN Uridine diphosphate-N-acetylglucosamine (UDP-GlcNAc) transporter in the Golgi apparatus. May supply UDP-GlcNAc as substrate for Golgi-resident glycosyltransferases that generate branching of diantennary oligosaccharides. {ECO 0000269|PubMed 10393322}. # GO_component GO:0000139 Golgi membrane; TAS:Reactome. # GO_component GO:0005794 Golgi apparatus; TAS:ProtInc. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0005462 UDP-N-acetylglucosamine transmembrane transporter activity; TAS:Reactome. # GO_function S35A3_HUMAN GO 0005351 sugar proton symporter activity; IEA InterPro. # GO_process GO:0006047 UDP-N-acetylglucosamine metabolic process; TAS:ProtInc. # GO_process GO:0015788 UDP-N-acetylglucosamine transport; IMP:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005794 Golgi apparatus # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # Genevisible Q9Y2D2 HS # HGNC HGNC:11023 SLC35A3 # INTERACTION S35A3_HUMAN P78381-1 SLC35A2; NbExp=3; IntAct=EBI-3917581, EBI-8101118; P78381-2 SLC35A2; NbExp=2; IntAct=EBI-3917581, EBI-8101093; # IntAct Q9Y2D2 3 # InterPro IPR007271 Nuc_sug_transpt # KEGG_Brite ko02001 Solute carrier family # KEGG_Disease H01392 [Skeletal dysplasia; Epilepsy] Arthrogryposis, mental retardation, and seizures (AMRS) # MIM 605632 gene # MIM 615553 phenotype # Organism S35A3_HUMAN Homo sapiens (Human) # Orphanet 370943 Autism spectrum disorder-epilepsy-arthrogryposis syndrome # PANTHER PTHR10231 PTHR10231 # PIRSF PIRSF005799 UDP-gal_transpt # Pfam PF04142 Nuc_sug_transp # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-727802 Transport of nucleotide sugars # RecName S35A3_HUMAN UDP-N-acetylglucosamine transporter # RefSeq NP_001258613 NM_001271684.1. [Q9Y2D2-3] # RefSeq NP_001258614 NM_001271685.1. [Q9Y2D2-2] # RefSeq NP_036375 NM_012243.2. [Q9Y2D2-1] # RefSeq XP_005270748 XM_005270691.4. [Q9Y2D2-1] # RefSeq XP_011539438 XM_011541136.2. [Q9Y2D2-1] # SIMILARITY Belongs to the nucleotide-sugar transporter family. SLC35A subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION S35A3_HUMAN Golgi apparatus membrane {ECO 0000269|PubMed 10393322}; Multi-pass membrane protein {ECO 0000269|PubMed 10393322}. # SUBUNIT Interacts with SLC35A2. {ECO:0000269|PubMed 23089177}. # TCDB 2.A.7.12 the drug/metabolite transporter (dmt) superfamily # TopDownProteomics Q9Y2D2-1 -. [Q9Y2D2-1] # UCSC uc001dsp human. [Q9Y2D2-1] # eggNOG COG0697 LUCA # eggNOG KOG2234 Eukaryota BLAST swissprot:S35A3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S35A3_HUMAN BioCyc ZFISH:ENSG00000117620-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000117620-MONOMER COXPRESdb 23443 http://coxpresdb.jp/data/gene/23443.shtml CleanEx HS_SLC35A3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC35A3 DOI 10.1016/j.febslet.2012.10.016 http://dx.doi.org/10.1016/j.febslet.2012.10.016 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1093/oxfordjournals.jbchem.a022437 http://dx.doi.org/10.1093/oxfordjournals.jbchem.a022437 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1136/jmedgenet-2013-101753 http://dx.doi.org/10.1136/jmedgenet-2013-101753 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 EMBL AB021981 http://www.ebi.ac.uk/ena/data/view/AB021981 EMBL AC118553 http://www.ebi.ac.uk/ena/data/view/AC118553 EMBL AK290573 http://www.ebi.ac.uk/ena/data/view/AK290573 EMBL BC005136 http://www.ebi.ac.uk/ena/data/view/BC005136 EMBL CH471097 http://www.ebi.ac.uk/ena/data/view/CH471097 EMBL CH471097 http://www.ebi.ac.uk/ena/data/view/CH471097 EMBL CH471097 http://www.ebi.ac.uk/ena/data/view/CH471097 EMBL CR749816 http://www.ebi.ac.uk/ena/data/view/CR749816 Ensembl ENST00000370153 http://www.ensembl.org/id/ENST00000370153 Ensembl ENST00000427993 http://www.ensembl.org/id/ENST00000427993 Ensembl ENST00000465289 http://www.ensembl.org/id/ENST00000465289 Ensembl ENST00000533028 http://www.ensembl.org/id/ENST00000533028 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000139 GO_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005351 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005351 GO_function GO:0005462 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005462 GO_process GO:0006047 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006047 GO_process GO:0015788 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015788 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GeneCards SLC35A3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC35A3 GeneID 23443 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=23443 GeneTree ENSGT00550000074563 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074563 HGNC HGNC:11023 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11023 HOGENOM HOG000216649 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000216649&db=HOGENOM6 HOVERGEN HBG054025 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG054025&db=HOVERGEN HPA HPA015253 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA015253 InParanoid Q9Y2D2 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9Y2D2 IntAct Q9Y2D2 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9Y2D2* InterPro IPR007271 http://www.ebi.ac.uk/interpro/entry/IPR007271 Jabion 23443 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=23443 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Disease H01392 http://www.genome.jp/dbget-bin/www_bget?H01392 KEGG_Gene hsa:23443 http://www.genome.jp/dbget-bin/www_bget?hsa:23443 KEGG_Orthology KO:K15272 http://www.genome.jp/dbget-bin/www_bget?KO:K15272 MIM 605632 http://www.ncbi.nlm.nih.gov/omim/605632 MIM 615553 http://www.ncbi.nlm.nih.gov/omim/615553 MINT MINT-4781806 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-4781806 OMA NWAVWST http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=NWAVWST Orphanet 370943 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=370943 OrthoDB EOG091G0CHS http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0CHS PANTHER PTHR10231 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10231 PSORT swissprot:S35A3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S35A3_HUMAN PSORT-B swissprot:S35A3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S35A3_HUMAN PSORT2 swissprot:S35A3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S35A3_HUMAN Pfam PF04142 http://pfam.xfam.org/family/PF04142 PharmGKB PA35891 http://www.pharmgkb.org/do/serve?objId=PA35891&objCls=Gene Phobius swissprot:S35A3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S35A3_HUMAN PhylomeDB Q9Y2D2 http://phylomedb.org/?seqid=Q9Y2D2 ProteinModelPortal Q9Y2D2 http://www.proteinmodelportal.org/query/uniprot/Q9Y2D2 PubMed 10393322 http://www.ncbi.nlm.nih.gov/pubmed/10393322 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 PubMed 23089177 http://www.ncbi.nlm.nih.gov/pubmed/23089177 PubMed 24031089 http://www.ncbi.nlm.nih.gov/pubmed/24031089 Reactome R-HSA-727802 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-727802 RefSeq NP_001258613 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001258613 RefSeq NP_001258614 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001258614 RefSeq NP_036375 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_036375 RefSeq XP_005270748 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005270748 RefSeq XP_011539438 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011539438 STRING 9606.ENSP00000359174 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000359174&targetmode=cogs TCDB 2.A.7.12 http://www.tcdb.org/search/result.php?tc=2.A.7.12 UCSC uc001dsp http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001dsp&org=rat UniGene Hs.448979 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.448979 UniGene Hs.534953 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.534953 UniProtKB S35A3_HUMAN http://www.uniprot.org/uniprot/S35A3_HUMAN UniProtKB-AC Q9Y2D2 http://www.uniprot.org/uniprot/Q9Y2D2 charge swissprot:S35A3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S35A3_HUMAN eggNOG COG0697 http://eggnogapi.embl.de/nog_data/html/tree/COG0697 eggNOG KOG2234 http://eggnogapi.embl.de/nog_data/html/tree/KOG2234 epestfind swissprot:S35A3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S35A3_HUMAN garnier swissprot:S35A3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S35A3_HUMAN helixturnhelix swissprot:S35A3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S35A3_HUMAN hmoment swissprot:S35A3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S35A3_HUMAN iep swissprot:S35A3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S35A3_HUMAN inforesidue swissprot:S35A3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S35A3_HUMAN neXtProt NX_Q9Y2D2 http://www.nextprot.org/db/entry/NX_Q9Y2D2 octanol swissprot:S35A3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S35A3_HUMAN pepcoil swissprot:S35A3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S35A3_HUMAN pepdigest swissprot:S35A3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S35A3_HUMAN pepinfo swissprot:S35A3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S35A3_HUMAN pepnet swissprot:S35A3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S35A3_HUMAN pepstats swissprot:S35A3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S35A3_HUMAN pepwheel swissprot:S35A3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S35A3_HUMAN pepwindow swissprot:S35A3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S35A3_HUMAN sigcleave swissprot:S35A3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S35A3_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS ACHA2_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q15822-1; Sequence=Displayed; Name=2; IsoId=Q15822-2; Sequence=VSP_055156; Note=No experimental confirmation available.; # CCDS CCDS6059 -. [Q15822-1] # CCDS CCDS64856 -. [Q15822-2] # ChiTaRS CHRNA2 human # DISEASE ACHA2_HUMAN Epilepsy, nocturnal frontal lobe, 4 (ENFL4) [MIM 610353] An autosomal dominant focal epilepsy characterized by nocturnal seizures associated with fear sensation, tongue movements, and nocturnal wandering, closely resembling nightmares and sleep walking. {ECO 0000269|PubMed 16826524}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DrugBank DB00184 Nicotine # DrugBank DB00411 Carbachol # DrugBank DB00483 Gallamine Triethiodide # DrugBank DB00514 Dextromethorphan # DrugBank DB00565 Cisatracurium besylate # DrugBank DB00657 Mecamylamine # DrugBank DB00674 Galantamine # DrugBank DB00721 Procaine # DrugBank DB00728 Rocuronium # DrugBank DB00732 Atracurium besylate # DrugBank DB00810 Biperiden # DrugBank DB00898 Ethanol # DrugBank DB01135 Doxacurium chloride # DrugBank DB01199 Tubocurarine # DrugBank DB01226 Mivacurium # DrugBank DB01245 Decamethonium # DrugBank DB01336 Metocurine # DrugBank DB01337 Pancuronium # DrugBank DB01338 Pipecuronium # DrugBank DB01339 Vecuronium # Ensembl ENST00000240132 ENSP00000240132; ENSG00000120903. [Q15822-2] # Ensembl ENST00000407991 ENSP00000385026; ENSG00000120903. [Q15822-1] # ExpressionAtlas Q15822 baseline and differential # FUNCTION ACHA2_HUMAN After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005892 acetylcholine-gated channel complex; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; NAS:UniProtKB. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0045211 postsynaptic membrane; IEA:UniProtKB-SubCell. # GO_function GO:0004889 acetylcholine-activated cation-selective channel activity; IDA:UniProtKB. # GO_function GO:0008144 drug binding; IEA:Ensembl. # GO_function GO:0015276 ligand-gated ion channel activity; TAS:Reactome. # GO_function GO:0015464 acetylcholine receptor activity; IDA:UniProtKB. # GO_function GO:0042166 acetylcholine binding; IEA:Ensembl. # GO_process GO:0006811 ion transport; NAS:UniProtKB. # GO_process GO:0007165 signal transduction; IDA:UniProtKB. # GO_process GO:0007271 synaptic transmission, cholinergic; IBA:GO_Central. # GO_process GO:0007274 neuromuscular synaptic transmission; IBA:GO_Central. # GO_process GO:0035094 response to nicotine; IBA:GO_Central. # GO_process GO:0051291 protein heterooligomerization; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # Gene3D 1.20.120.370 -; 2. # Gene3D 2.70.170.10 -; 1. # Genevisible Q15822 HS # HGNC HGNC:1956 CHRNA2 # InterPro IPR002394 Nicotinic_acetylcholine_rcpt # InterPro IPR006029 Neurotrans-gated_channel_TM # InterPro IPR006201 Neur_channel # InterPro IPR006202 Neur_chan_lig-bd # InterPro IPR018000 Neurotransmitter_ion_chnl_CS # InterPro IPR027361 Acetylcholine_rcpt_TM # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00807 [Nervous system disease] Nocturnal frontal lobe epilepsy (NFLE) # KEGG_Pathway ko04080 Neuroactive ligand-receptor interaction # MIM 118502 gene # MIM 610353 phenotype # Organism ACHA2_HUMAN Homo sapiens (Human) # Orphanet 98784 Autosomal dominant nocturnal frontal lobe epilepsy # PANTHER PTHR18945 PTHR18945; 2 # PDB 5FJV X-ray; 3.20 A; A/B/C/D/E=59-265 # PRINTS PR00252 NRIONCHANNEL # PRINTS PR00254 NICOTINICR # PROSITE PS00236 NEUROTR_ION_CHANNEL # Pfam PF02931 Neur_chan_LBD # Pfam PF02932 Neur_chan_memb # Proteomes UP000005640 Chromosome 8 # Reactome R-HSA-629594 Highly calcium permeable postsynaptic nicotinic acetylcholine receptors # Reactome R-HSA-629597 Highly calcium permeable nicotinic acetylcholine receptors # RecName ACHA2_HUMAN Neuronal acetylcholine receptor subunit alpha-2 # RefSeq NP_000733 NM_000742.3. [Q15822-1] # RefSeq NP_001269384 NM_001282455.1. [Q15822-2] # RefSeq XP_006716345 XM_006716282.1. [Q15822-1] # RefSeq XP_011542690 XM_011544388.1. [Q15822-1] # SIMILARITY Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Alpha- 2/CHRNA2 sub-subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION ACHA2_HUMAN Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. # SUBUNIT Neuronal AChR seems to be composed of two different types of subunits alpha and non-alpha (beta). Alpha-2 subunit can be combined to beta-2 or beta-4 to give rise to functional receptors. # SUPFAM SSF63712 SSF63712 # SUPFAM SSF90112 SSF90112 # TIGRFAMs TIGR00860 LIC # UCSC uc010lur human. [Q15822-1] # eggNOG ENOG410XQGR LUCA # eggNOG KOG3645 Eukaryota BLAST swissprot:ACHA2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ACHA2_HUMAN BioCyc ZFISH:ENSG00000120903-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000120903-MONOMER COXPRESdb 1135 http://coxpresdb.jp/data/gene/1135.shtml CleanEx HS_CHRNA2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CHRNA2 DOI 10.1007/BF02736842 http://dx.doi.org/10.1007/BF02736842 DOI 10.1038/nature04406 http://dx.doi.org/10.1038/nature04406 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1086/506459 http://dx.doi.org/10.1086/506459 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/epi.12967 http://dx.doi.org/10.1111/epi.12967 DrugBank DB00184 http://www.drugbank.ca/drugs/DB00184 DrugBank DB00411 http://www.drugbank.ca/drugs/DB00411 DrugBank DB00483 http://www.drugbank.ca/drugs/DB00483 DrugBank DB00514 http://www.drugbank.ca/drugs/DB00514 DrugBank DB00565 http://www.drugbank.ca/drugs/DB00565 DrugBank DB00657 http://www.drugbank.ca/drugs/DB00657 DrugBank DB00674 http://www.drugbank.ca/drugs/DB00674 DrugBank DB00721 http://www.drugbank.ca/drugs/DB00721 DrugBank DB00728 http://www.drugbank.ca/drugs/DB00728 DrugBank DB00732 http://www.drugbank.ca/drugs/DB00732 DrugBank DB00810 http://www.drugbank.ca/drugs/DB00810 DrugBank DB00898 http://www.drugbank.ca/drugs/DB00898 DrugBank DB01135 http://www.drugbank.ca/drugs/DB01135 DrugBank DB01199 http://www.drugbank.ca/drugs/DB01199 DrugBank DB01226 http://www.drugbank.ca/drugs/DB01226 DrugBank DB01245 http://www.drugbank.ca/drugs/DB01245 DrugBank DB01336 http://www.drugbank.ca/drugs/DB01336 DrugBank DB01337 http://www.drugbank.ca/drugs/DB01337 DrugBank DB01338 http://www.drugbank.ca/drugs/DB01338 DrugBank DB01339 http://www.drugbank.ca/drugs/DB01339 EMBL AF311103 http://www.ebi.ac.uk/ena/data/view/AF311103 EMBL AK296348 http://www.ebi.ac.uk/ena/data/view/AK296348 EMBL BC153866 http://www.ebi.ac.uk/ena/data/view/BC153866 EMBL U62431 http://www.ebi.ac.uk/ena/data/view/U62431 EMBL Y16281 http://www.ebi.ac.uk/ena/data/view/Y16281 Ensembl ENST00000240132 http://www.ensembl.org/id/ENST00000240132 Ensembl ENST00000407991 http://www.ensembl.org/id/ENST00000407991 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005892 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005892 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0045211 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045211 GO_function GO:0004889 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004889 GO_function GO:0008144 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008144 GO_function GO:0015276 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015276 GO_function GO:0015464 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015464 GO_function GO:0042166 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042166 GO_process GO:0006811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006811 GO_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GO_process GO:0007271 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007271 GO_process GO:0007274 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007274 GO_process GO:0035094 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035094 GO_process GO:0051291 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051291 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 Gene3D 1.20.120.370 http://www.cathdb.info/version/latest/superfamily/1.20.120.370 Gene3D 2.70.170.10 http://www.cathdb.info/version/latest/superfamily/2.70.170.10 GeneCards CHRNA2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CHRNA2 GeneID 1135 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=1135 GeneTree ENSGT00760000118930 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118930 H-InvDB HIX0034372 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0034372 HGNC HGNC:1956 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:1956 HOGENOM HOG000006756 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000006756&db=HOGENOM6 HOVERGEN HBG003756 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG003756&db=HOVERGEN InParanoid Q15822 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q15822 InterPro IPR002394 http://www.ebi.ac.uk/interpro/entry/IPR002394 InterPro IPR006029 http://www.ebi.ac.uk/interpro/entry/IPR006029 InterPro IPR006201 http://www.ebi.ac.uk/interpro/entry/IPR006201 InterPro IPR006202 http://www.ebi.ac.uk/interpro/entry/IPR006202 InterPro IPR018000 http://www.ebi.ac.uk/interpro/entry/IPR018000 InterPro IPR027361 http://www.ebi.ac.uk/interpro/entry/IPR027361 Jabion 1135 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=1135 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00807 http://www.genome.jp/dbget-bin/www_bget?H00807 KEGG_Gene hsa:1135 http://www.genome.jp/dbget-bin/www_bget?hsa:1135 KEGG_Orthology KO:K04804 http://www.genome.jp/dbget-bin/www_bget?KO:K04804 KEGG_Pathway ko04080 http://www.genome.jp/kegg-bin/show_pathway?ko04080 MIM 118502 http://www.ncbi.nlm.nih.gov/omim/118502 MIM 610353 http://www.ncbi.nlm.nih.gov/omim/610353 OMA HIETIWI http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=HIETIWI Orphanet 98784 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=98784 OrthoDB EOG091G0R20 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0R20 PANTHER PTHR18945 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR18945 PDB 5FJV http://www.ebi.ac.uk/pdbe-srv/view/entry/5FJV PDBsum 5FJV http://www.ebi.ac.uk/pdbsum/5FJV PRINTS PR00252 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00252 PRINTS PR00254 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00254 PROSITE PS00236 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00236 PSORT swissprot:ACHA2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ACHA2_HUMAN PSORT-B swissprot:ACHA2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ACHA2_HUMAN PSORT2 swissprot:ACHA2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ACHA2_HUMAN Pfam PF02931 http://pfam.xfam.org/family/PF02931 Pfam PF02932 http://pfam.xfam.org/family/PF02932 PharmGKB PA26489 http://www.pharmgkb.org/do/serve?objId=PA26489&objCls=Gene Phobius swissprot:ACHA2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ACHA2_HUMAN PhylomeDB Q15822 http://phylomedb.org/?seqid=Q15822 ProteinModelPortal Q15822 http://www.proteinmodelportal.org/query/uniprot/Q15822 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16421571 http://www.ncbi.nlm.nih.gov/pubmed/16421571 PubMed 16826524 http://www.ncbi.nlm.nih.gov/pubmed/16826524 PubMed 25847220 http://www.ncbi.nlm.nih.gov/pubmed/25847220 PubMed 8906617 http://www.ncbi.nlm.nih.gov/pubmed/8906617 Reactome R-HSA-629594 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-629594 Reactome R-HSA-629597 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-629597 RefSeq NP_000733 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000733 RefSeq NP_001269384 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001269384 RefSeq XP_006716345 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006716345 RefSeq XP_011542690 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011542690 SMR Q15822 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q15822 STRING 9606.ENSP00000385026 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000385026&targetmode=cogs SUPFAM SSF63712 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF63712 SUPFAM SSF90112 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF90112 TIGRFAMs TIGR00860 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00860 UCSC uc010lur http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc010lur&org=rat UniGene Hs.57718 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.57718 UniProtKB ACHA2_HUMAN http://www.uniprot.org/uniprot/ACHA2_HUMAN UniProtKB-AC Q15822 http://www.uniprot.org/uniprot/Q15822 charge swissprot:ACHA2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ACHA2_HUMAN eggNOG ENOG410XQGR http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XQGR eggNOG KOG3645 http://eggnogapi.embl.de/nog_data/html/tree/KOG3645 epestfind swissprot:ACHA2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ACHA2_HUMAN garnier swissprot:ACHA2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ACHA2_HUMAN helixturnhelix swissprot:ACHA2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ACHA2_HUMAN hmoment swissprot:ACHA2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ACHA2_HUMAN iep swissprot:ACHA2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ACHA2_HUMAN inforesidue swissprot:ACHA2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ACHA2_HUMAN neXtProt NX_Q15822 http://www.nextprot.org/db/entry/NX_Q15822 octanol swissprot:ACHA2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ACHA2_HUMAN pepcoil swissprot:ACHA2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ACHA2_HUMAN pepdigest swissprot:ACHA2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ACHA2_HUMAN pepinfo swissprot:ACHA2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ACHA2_HUMAN pepnet swissprot:ACHA2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ACHA2_HUMAN pepstats swissprot:ACHA2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ACHA2_HUMAN pepwheel swissprot:ACHA2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ACHA2_HUMAN pepwindow swissprot:ACHA2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ACHA2_HUMAN sigcleave swissprot:ACHA2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ACHA2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS AP2B1_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=P63010-1; Sequence=Displayed; Name=2; IsoId=P63010-2; Sequence=VSP_011490; Name=3; Synonyms=Ap2beta-NY; IsoId=P63010-3; Sequence=VSP_047805; Note=Highly expressed in the testis, spleen, thymus, prostate, ovary, blood leukocyte and brain, but not in the heart, placenta, lung, liver, skeletal muscle, kidney and pancreas. Testis expression is restricted to germ cells and is about 3-fold higher in adults than in embryos.; # AltName AP2B1_HUMAN AP105B # AltName AP2B1_HUMAN Adaptor protein complex AP-2 subunit beta # AltName AP2B1_HUMAN Adaptor-related protein complex 2 subunit beta # AltName AP2B1_HUMAN Beta-2-adaptin # AltName AP2B1_HUMAN Beta-adaptin # AltName AP2B1_HUMAN Clathrin assembly protein complex 2 beta large chain # AltName AP2B1_HUMAN Plasma membrane adaptor HA2/AP2 adaptin beta subunit # BioGrid 106672 110 # CCDS CCDS32621 -. [P63010-2] # CCDS CCDS32622 -. [P63010-1] # ChiTaRS AP2B1 human # Ensembl ENST00000610402 ENSP00000483185; ENSG00000006125. [P63010-2] # Ensembl ENST00000618940 ENSP00000482835; ENSG00000006125. [P63010-2] # Ensembl ENST00000621914 ENSP00000482315; ENSG00000006125. [P63010-1] # ExpressionAtlas P63010 baseline and differential # FUNCTION AP2B1_HUMAN Component of the adaptor protein complex 2 (AP-2). Adaptor protein complexes function in protein transport via transport vesicles in different membrane traffic pathways. Adaptor protein complexes are vesicle coat components and appear to be involved in cargo selection and vesicle formation. AP-2 is involved in clathrin-dependent endocytosis in which cargo proteins are incorporated into vesicles surrounded by clathrin (clathrin- coated vesicles, CCVs) which are destined for fusion with the early endosome. The clathrin lattice serves as a mechanical scaffold but is itself unable to bind directly to membrane components. Clathrin-associated adaptor protein (AP) complexes which can bind directly to both the clathrin lattice and to the lipid and protein components of membranes are considered to be the major clathrin adaptors contributing the CCV formation. AP-2 also serves as a cargo receptor to selectively sort the membrane proteins involved in receptor-mediated endocytosis. AP-2 seems to play a role in the recycling of synaptic vesicle membranes from the presynaptic surface. AP-2 recognizes Y-X-X-[FILMV] (Y-X-X-Phi) and [ED]-X-X-X-L-[LI] endocytosis signal motifs within the cytosolic tails of transmembrane cargo molecules. AP-2 may also play a role in maintaining normal post-endocytic trafficking through the ARF6-regulated, non-clathrin pathway. The AP-2 beta subunit acts via its C-terminal appendage domain as a scaffolding platform for endocytic accessory proteins; at least some clathrin- associated sorting proteins (CLASPs) are recognized by their [DE]- X(1,2)-F-X-X-[FL]-X-X-X-R motif. The AP-2 beta subunit binds to clathrin heavy chain, promoting clathrin lattice assembly; clathrin displaces at least some CLASPs from AP2B1 which probably then can be positioned for further coat assembly. {ECO 0000269|PubMed 14745134, ECO 0000269|PubMed 14985334, ECO 0000269|PubMed 15473838, ECO 0000269|PubMed 19033387}. # GO_component GO:0005802 trans-Golgi network; IEA:Ensembl. # GO_component GO:0005829 cytosol; TAS:Reactome. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0030122 AP-2 adaptor complex; TAS:BHF-UCL. # GO_component GO:0030666 endocytic vesicle membrane; TAS:Reactome. # GO_component GO:0030669 clathrin-coated endocytic vesicle membrane; TAS:Reactome. # GO_component GO:0036020 endolysosome membrane; TAS:Reactome. # GO_component GO:0043231 intracellular membrane-bounded organelle; IDA:HPA. # GO_function GO:0005048 signal sequence binding; TAS:BHF-UCL. # GO_function GO:0008565 protein transporter activity; IEA:InterPro. # GO_function GO:0030276 clathrin binding; IPI:UniProtKB. # GO_process GO:0003281 ventricular septum development; IEA:Ensembl. # GO_process GO:0006886 intracellular protein transport; IEA:InterPro. # GO_process GO:0007018 microtubule-based movement; TAS:Reactome. # GO_process GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II; TAS:Reactome. # GO_process GO:0035904 aorta development; IEA:Ensembl. # GO_process GO:0042059 negative regulation of epidermal growth factor receptor signaling pathway; TAS:Reactome. # GO_process GO:0048013 ephrin receptor signaling pathway; TAS:Reactome. # GO_process GO:0048268 clathrin coat assembly; IEA:Ensembl. # GO_process GO:0050690 regulation of defense response to virus by virus; TAS:Reactome. # GO_process GO:0060071 Wnt signaling pathway, planar cell polarity pathway; TAS:Reactome. # GO_process GO:0060976 coronary vasculature development; IEA:Ensembl. # GO_process GO:0072583 clathrin-dependent endocytosis; TAS:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005829 cytosol # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0008565 protein transporter activity # GOslim_process GO:0002376 immune system process # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0016192 vesicle-mediated transport # GOslim_process GO:0048856 anatomical structure development # Gene3D 1.25.10.10 -; 1. # Gene3D 2.60.40.1150 -; 1. # Gene3D 3.30.310.10 -; 1. # Genevisible P63010 HS # HGNC HGNC:563 AP2B1 # INTERACTION AP2B1_HUMAN Q9UHB7 AFF4; NbExp=3; IntAct=EBI-432924, EBI-395282; Q9UHB7-2 AFF4; NbExp=3; IntAct=EBI-432924, EBI-10261324; Q9Y6Q5 AP1M2; NbExp=4; IntAct=EBI-432924, EBI-752250; P84092 Ap2m1 (xeno); NbExp=2; IntAct=EBI-432924, EBI-297693; Q6NVW7 KPNA2; NbExp=3; IntAct=EBI-432924, EBI-9377406; Q5SW96 LDLRAP1; NbExp=4; IntAct=EBI-432924, EBI-747813; Q16626 MEA1; NbExp=2; IntAct=EBI-432924, EBI-744921; P40692 MLH1; NbExp=4; IntAct=EBI-11529439, EBI-744248; Q8WWR8-2 NEU4; NbExp=3; IntAct=EBI-432924, EBI-10277551; P12236 SLC25A6; NbExp=3; IntAct=EBI-432924, EBI-356254; Q9NVV9 THAP1; NbExp=4; IntAct=EBI-432924, EBI-741515; Q99757 TXN2; NbExp=3; IntAct=EBI-432924, EBI-2932492; Q01081 U2AF1; NbExp=3; IntAct=EBI-432924, EBI-632461; Q8N4L5 XRCC6BP1; NbExp=3; IntAct=EBI-432924, EBI-10265517; # IntAct P63010 90 # InterPro IPR000225 Armadillo # InterPro IPR002553 Clathrin/coatomer_adapt-like_N # InterPro IPR008152 Clathrin_a/b/g-adaptin_app_Ig # InterPro IPR009028 Coatomer/calthrin_app_sub_C # InterPro IPR011989 ARM-like # InterPro IPR012295 Beta2_adaptin/TBP_C_dom # InterPro IPR013037 Clathrin_b-adaptin_app_Ig-like # InterPro IPR013041 Coatomer/clathrin_app_Ig-like # InterPro IPR015151 B-adaptin_app_sub_C # InterPro IPR016024 ARM-type_fold # InterPro IPR016342 AP_complex_bsu_1_2_4 # InterPro IPR026739 AP_beta # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Pathway ko04144 Endocytosis # KEGG_Pathway ko04721 Synaptic vesicle cycle # KEGG_Pathway ko04961 Endocrine and other factor-regulated calcium reabsorption # KEGG_Pathway ko05016 Huntington's disease # MIM 601025 gene # Organism AP2B1_HUMAN Homo sapiens (Human) # PANTHER PTHR11134 PTHR11134 # PDB 1E42 X-ray; 1.70 A; A/B=701-937 # PDB 2G30 X-ray; 1.60 A; A=701-937 # PDB 2IV8 X-ray; 2.80 A; A=700-937 # PDB 2IV9 X-ray; 1.90 A; A/B=700-937 # PDB 2JKR X-ray; 2.98 A; B/E=1-591 # PDB 2JKT X-ray; 3.40 A; B/E=1-591 # PDB 2VGL X-ray; 2.59 A; B=1-591 # PDB 2XA7 X-ray; 3.10 A; B=1-592 # PDB 4UQI X-ray; 2.79 A; B=1-651 # PIR A35553 A35553 # PIRSF PIRSF002291 AP_complex_beta # PTM AP2B1_HUMAN Phosphorylation at Tyr-737 by SRC occurs at the plasma membrane in clathrin-coated vesicles (CCVs). {ECO 0000269|PubMed 17456551, ECO 0000269|PubMed 18938240}. # Pfam PF01602 Adaptin_N # Pfam PF02883 Alpha_adaptinC2 # Pfam PF09066 B2-adapt-app_C # Proteomes UP000005640 Chromosome 17 # Reactome R-HSA-167590 Nef Mediated CD4 Down-regulation # Reactome R-HSA-171052 LDL-mediated lipid transport # Reactome R-HSA-177504 Retrograde neurotrophin signalling # Reactome R-HSA-182218 Nef Mediated CD8 Down-regulation # Reactome R-HSA-2132295 MHC class II antigen presentation # Reactome R-HSA-3928665 EPH-ephrin mediated repulsion of cells # Reactome R-HSA-416993 Trafficking of GluR2-containing AMPA receptors # Reactome R-HSA-437239 Recycling pathway of L1 # Reactome R-HSA-5099900 WNT5A-dependent internalization of FZD4 # Reactome R-HSA-5140745 WNT5A-dependent internalization of FZD2, FZD5 and ROR2 # Reactome R-HSA-8856825 Cargo recognition for clathrin-mediated endocytosis # Reactome R-HSA-8856828 Clathrin-mediated endocytosis # Reactome R-HSA-8866427 VLDLR internalisation and degradation # RecName AP2B1_HUMAN AP-2 complex subunit beta # RefSeq NP_001025177 NM_001030006.1. [P63010-2] # RefSeq NP_001273 NM_001282.2. [P63010-1] # RefSeq XP_005257994 XM_005257937.3. [P63010-2] # RefSeq XP_005257995 XM_005257938.2. [P63010-2] # RefSeq XP_011522757 XM_011524455.2. [P63010-3] # RefSeq XP_016879773 XM_017024284.1. [P63010-1] # RefSeq XP_016879775 XM_017024286.1. [P63010-3] # SIMILARITY Belongs to the adaptor complexes large subunit family. {ECO 0000305}. # SMART SM00185 ARM; 2 # SMART SM00809 Alpha_adaptinC2 # SMART SM01020 B2-adapt-app_C # SUBCELLULAR LOCATION AP2B1_HUMAN Cell membrane {ECO 0000269|PubMed 14530274}. Membrane, coated pit {ECO 0000269|PubMed 14530274}; Peripheral membrane protein {ECO 0000269|PubMed 14530274}; Cytoplasmic side {ECO 0000269|PubMed 14530274}. Note=AP-2 appears to be excluded from internalizing CCVs and to disengage from sites of endocytosis seconds before internalization of the nascent CCV. # SUBUNIT AP2B1_HUMAN Adaptor protein complex 2 (AP-2) is a heterotetramer composed of two large adaptins (alpha-type subunit AP2A1 or AP2A2 and beta-type subunit AP2B1), a medium adaptin (mu-type subunit AP2M1) and a small adaptin (sigma-type subunit AP2S1). Interacts with EPN1. Interacts with EPS15; clathrin competes with EPS15. Interacts with SNAP91; clathrin competes with SNAP91. Interacts with CLTC; clathrin competes with EPS15, SNAP91 and PIP5K1C. Interacts with LDLRAP1. Interacts with AMPH and BIN1. Interacts with ARF6 (GDP-bound). Interacts (dephosphorylated at Tyr-737) with ARRB1; phosphorylation of AP2B1 at Tyr-737 disrupts the interaction. Interacts with SLC2A8. Interacts with SCYL1 and SCYL2. Interacts with TGFBR1 and TGFBR2. Interacts with PIP5K1C; clathrin competes with PIP5K1C (By similarity). Interacts with DENND1B, but not with DENND1A, nor DENND1C. Interacts with FCHO1. {ECO 0000250, ECO 0000269|PubMed 10944104, ECO 0000269|PubMed 11777907, ECO 0000269|PubMed 12086608, ECO 0000269|PubMed 12429842, ECO 0000269|PubMed 15728179, ECO 0000269|PubMed 16516836, ECO 0000269|PubMed 16723738, ECO 0000269|PubMed 16903783, ECO 0000269|PubMed 17456551, ECO 0000269|PubMed 17719203, ECO 0000269|PubMed 19140243, ECO 0000269|PubMed 20154091, ECO 0000269|PubMed 22484487}. # SUPFAM SSF48371 SSF48371 # SUPFAM SSF49348 SSF49348 # SUPFAM SSF55711 SSF55711 # UCSC uc002hjq human. [P63010-1] # eggNOG COG5096 LUCA # eggNOG KOG1061 Eukaryota BLAST swissprot:AP2B1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:AP2B1_HUMAN BioCyc ZFISH:ENSG00000006125-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000006125-MONOMER COXPRESdb 163 http://coxpresdb.jp/data/gene/163.shtml CleanEx HS_AP2B1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_AP2B1 DIP DIP-33098N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-33098N DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1016/S0092-8674(02)00735-3 http://dx.doi.org/10.1016/S0092-8674(02)00735-3 DOI 10.1016/j.cellsig.2007.07.015 http://dx.doi.org/10.1016/j.cellsig.2007.07.015 DOI 10.1016/j.cellsig.2008.09.013 http://dx.doi.org/10.1016/j.cellsig.2008.09.013 DOI 10.1016/j.devcel.2006.01.016 http://dx.doi.org/10.1016/j.devcel.2006.01.016 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1016/j.molcel.2008.07.007 http://dx.doi.org/10.1016/j.molcel.2008.07.007 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature04689 http://dx.doi.org/10.1038/nature04689 DOI 10.1038/nature07422 http://dx.doi.org/10.1038/nature07422 DOI 10.1038/ncb2473 http://dx.doi.org/10.1038/ncb2473 DOI 10.1073/pnas.1210303109 http://dx.doi.org/10.1073/pnas.1210303109 DOI 10.1074/jbc.C300390200 http://dx.doi.org/10.1074/jbc.C300390200 DOI 10.1074/jbc.C400046200 http://dx.doi.org/10.1074/jbc.C400046200 DOI 10.1074/jbc.M108490200 http://dx.doi.org/10.1074/jbc.M108490200 DOI 10.1074/jbc.M109.050930 http://dx.doi.org/10.1074/jbc.M109.050930 DOI 10.1074/jbc.M501029200 http://dx.doi.org/10.1074/jbc.M501029200 DOI 10.1091/mbc.02-07-0104 http://dx.doi.org/10.1091/mbc.02-07-0104 DOI 10.1093/emboj/19.16.4216 http://dx.doi.org/10.1093/emboj/19.16.4216 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1745-7262.2005.00025.x http://dx.doi.org/10.1111/j.1745-7262.2005.00025.x DOI 10.1126/science.1175371 http://dx.doi.org/10.1126/science.1175371 DOI 10.1146/annurev.cellbio.20.010403.104543 http://dx.doi.org/10.1146/annurev.cellbio.20.010403.104543 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DOI 10.1242/jcs.02943 http://dx.doi.org/10.1242/jcs.02943 DOI 10.1242/jcs.033522 http://dx.doi.org/10.1242/jcs.033522 DOI 10.1242/jcs.03444 http://dx.doi.org/10.1242/jcs.03444 DOI 10.1247/csf.28.419 http://dx.doi.org/10.1247/csf.28.419 DOI 10.1371/journal.pbio.0040262 http://dx.doi.org/10.1371/journal.pbio.0040262 EMBL AC004134 http://www.ebi.ac.uk/ena/data/view/AC004134 EMBL AC006237 http://www.ebi.ac.uk/ena/data/view/AC006237 EMBL AC015911 http://www.ebi.ac.uk/ena/data/view/AC015911 EMBL AY341427 http://www.ebi.ac.uk/ena/data/view/AY341427 EMBL BC006201 http://www.ebi.ac.uk/ena/data/view/BC006201 EMBL CH471147 http://www.ebi.ac.uk/ena/data/view/CH471147 EMBL CH471147 http://www.ebi.ac.uk/ena/data/view/CH471147 EMBL M34175 http://www.ebi.ac.uk/ena/data/view/M34175 Ensembl ENST00000610402 http://www.ensembl.org/id/ENST00000610402 Ensembl ENST00000618940 http://www.ensembl.org/id/ENST00000618940 Ensembl ENST00000621914 http://www.ensembl.org/id/ENST00000621914 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005802 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005802 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0030122 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030122 GO_component GO:0030666 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030666 GO_component GO:0030669 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030669 GO_component GO:0036020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0036020 GO_component GO:0043231 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043231 GO_function GO:0005048 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005048 GO_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GO_function GO:0030276 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030276 GO_process GO:0003281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003281 GO_process GO:0006886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006886 GO_process GO:0007018 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007018 GO_process GO:0019886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019886 GO_process GO:0035904 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035904 GO_process GO:0042059 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042059 GO_process GO:0048013 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048013 GO_process GO:0048268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048268 GO_process GO:0050690 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050690 GO_process GO:0060071 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060071 GO_process GO:0060976 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060976 GO_process GO:0072583 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0072583 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_process GO:0002376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002376 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0016192 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016192 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 Gene3D 1.25.10.10 http://www.cathdb.info/version/latest/superfamily/1.25.10.10 Gene3D 2.60.40.1150 http://www.cathdb.info/version/latest/superfamily/2.60.40.1150 Gene3D 3.30.310.10 http://www.cathdb.info/version/latest/superfamily/3.30.310.10 GeneCards AP2B1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=AP2B1 GeneID 163 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=163 GeneTree ENSGT00530000063138 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000063138 HGNC HGNC:563 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:563 HOGENOM HOG000163270 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000163270&db=HOGENOM6 HOVERGEN HBG050515 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050515&db=HOVERGEN HPA CAB017631 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB017631 HPA HPA056733 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA056733 InParanoid P63010 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P63010 IntAct P63010 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P63010* InterPro IPR000225 http://www.ebi.ac.uk/interpro/entry/IPR000225 InterPro IPR002553 http://www.ebi.ac.uk/interpro/entry/IPR002553 InterPro IPR008152 http://www.ebi.ac.uk/interpro/entry/IPR008152 InterPro IPR009028 http://www.ebi.ac.uk/interpro/entry/IPR009028 InterPro IPR011989 http://www.ebi.ac.uk/interpro/entry/IPR011989 InterPro IPR012295 http://www.ebi.ac.uk/interpro/entry/IPR012295 InterPro IPR013037 http://www.ebi.ac.uk/interpro/entry/IPR013037 InterPro IPR013041 http://www.ebi.ac.uk/interpro/entry/IPR013041 InterPro IPR015151 http://www.ebi.ac.uk/interpro/entry/IPR015151 InterPro IPR016024 http://www.ebi.ac.uk/interpro/entry/IPR016024 InterPro IPR016342 http://www.ebi.ac.uk/interpro/entry/IPR016342 InterPro IPR026739 http://www.ebi.ac.uk/interpro/entry/IPR026739 Jabion 163 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=163 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Gene hsa:163 http://www.genome.jp/dbget-bin/www_bget?hsa:163 KEGG_Orthology KO:K11825 http://www.genome.jp/dbget-bin/www_bget?KO:K11825 KEGG_Pathway ko04144 http://www.genome.jp/kegg-bin/show_pathway?ko04144 KEGG_Pathway ko04721 http://www.genome.jp/kegg-bin/show_pathway?ko04721 KEGG_Pathway ko04961 http://www.genome.jp/kegg-bin/show_pathway?ko04961 KEGG_Pathway ko05016 http://www.genome.jp/kegg-bin/show_pathway?ko05016 MIM 601025 http://www.ncbi.nlm.nih.gov/omim/601025 MINT MINT-256705 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-256705 OMA CHLNADA http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=CHLNADA OrthoDB EOG091G019U http://cegg.unige.ch/orthodb/results?searchtext=EOG091G019U PANTHER PTHR11134 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11134 PDB 1E42 http://www.ebi.ac.uk/pdbe-srv/view/entry/1E42 PDB 2G30 http://www.ebi.ac.uk/pdbe-srv/view/entry/2G30 PDB 2IV8 http://www.ebi.ac.uk/pdbe-srv/view/entry/2IV8 PDB 2IV9 http://www.ebi.ac.uk/pdbe-srv/view/entry/2IV9 PDB 2JKR http://www.ebi.ac.uk/pdbe-srv/view/entry/2JKR PDB 2JKT http://www.ebi.ac.uk/pdbe-srv/view/entry/2JKT PDB 2VGL http://www.ebi.ac.uk/pdbe-srv/view/entry/2VGL PDB 2XA7 http://www.ebi.ac.uk/pdbe-srv/view/entry/2XA7 PDB 4UQI http://www.ebi.ac.uk/pdbe-srv/view/entry/4UQI PDBsum 1E42 http://www.ebi.ac.uk/pdbsum/1E42 PDBsum 2G30 http://www.ebi.ac.uk/pdbsum/2G30 PDBsum 2IV8 http://www.ebi.ac.uk/pdbsum/2IV8 PDBsum 2IV9 http://www.ebi.ac.uk/pdbsum/2IV9 PDBsum 2JKR http://www.ebi.ac.uk/pdbsum/2JKR PDBsum 2JKT http://www.ebi.ac.uk/pdbsum/2JKT PDBsum 2VGL http://www.ebi.ac.uk/pdbsum/2VGL PDBsum 2XA7 http://www.ebi.ac.uk/pdbsum/2XA7 PDBsum 4UQI http://www.ebi.ac.uk/pdbsum/4UQI PSORT swissprot:AP2B1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:AP2B1_HUMAN PSORT-B swissprot:AP2B1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:AP2B1_HUMAN PSORT2 swissprot:AP2B1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:AP2B1_HUMAN Pfam PF01602 http://pfam.xfam.org/family/PF01602 Pfam PF02883 http://pfam.xfam.org/family/PF02883 Pfam PF09066 http://pfam.xfam.org/family/PF09066 PharmGKB PA24854 http://www.pharmgkb.org/do/serve?objId=PA24854&objCls=Gene Phobius swissprot:AP2B1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:AP2B1_HUMAN PhylomeDB P63010 http://phylomedb.org/?seqid=P63010 ProteinModelPortal P63010 http://www.proteinmodelportal.org/query/uniprot/P63010 PubMed 10944104 http://www.ncbi.nlm.nih.gov/pubmed/10944104 PubMed 11777907 http://www.ncbi.nlm.nih.gov/pubmed/11777907 PubMed 12086608 http://www.ncbi.nlm.nih.gov/pubmed/12086608 PubMed 12429842 http://www.ncbi.nlm.nih.gov/pubmed/12429842 PubMed 14530274 http://www.ncbi.nlm.nih.gov/pubmed/14530274 PubMed 14745134 http://www.ncbi.nlm.nih.gov/pubmed/14745134 PubMed 14985334 http://www.ncbi.nlm.nih.gov/pubmed/14985334 PubMed 15473838 http://www.ncbi.nlm.nih.gov/pubmed/15473838 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15728179 http://www.ncbi.nlm.nih.gov/pubmed/15728179 PubMed 15897975 http://www.ncbi.nlm.nih.gov/pubmed/15897975 PubMed 16516836 http://www.ncbi.nlm.nih.gov/pubmed/16516836 PubMed 16625196 http://www.ncbi.nlm.nih.gov/pubmed/16625196 PubMed 16723738 http://www.ncbi.nlm.nih.gov/pubmed/16723738 PubMed 16903783 http://www.ncbi.nlm.nih.gov/pubmed/16903783 PubMed 17456551 http://www.ncbi.nlm.nih.gov/pubmed/17456551 PubMed 17719203 http://www.ncbi.nlm.nih.gov/pubmed/17719203 PubMed 18691976 http://www.ncbi.nlm.nih.gov/pubmed/18691976 PubMed 18938240 http://www.ncbi.nlm.nih.gov/pubmed/18938240 PubMed 19033387 http://www.ncbi.nlm.nih.gov/pubmed/19033387 PubMed 19140243 http://www.ncbi.nlm.nih.gov/pubmed/19140243 PubMed 19608861 http://www.ncbi.nlm.nih.gov/pubmed/19608861 PubMed 1969413 http://www.ncbi.nlm.nih.gov/pubmed/1969413 PubMed 20154091 http://www.ncbi.nlm.nih.gov/pubmed/20154091 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 22484487 http://www.ncbi.nlm.nih.gov/pubmed/22484487 PubMed 22814378 http://www.ncbi.nlm.nih.gov/pubmed/22814378 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 Reactome R-HSA-167590 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-167590 Reactome R-HSA-171052 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-171052 Reactome R-HSA-177504 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-177504 Reactome R-HSA-182218 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-182218 Reactome R-HSA-2132295 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2132295 Reactome R-HSA-3928665 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-3928665 Reactome R-HSA-416993 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-416993 Reactome R-HSA-437239 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-437239 Reactome R-HSA-5099900 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5099900 Reactome R-HSA-5140745 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5140745 Reactome R-HSA-8856825 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-8856825 Reactome R-HSA-8856828 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-8856828 Reactome R-HSA-8866427 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-8866427 RefSeq NP_001025177 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001025177 RefSeq NP_001273 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001273 RefSeq XP_005257994 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005257994 RefSeq XP_005257995 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005257995 RefSeq XP_011522757 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011522757 RefSeq XP_016879773 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016879773 RefSeq XP_016879775 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016879775 SMART SM00185 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00185 SMART SM00809 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00809 SMART SM01020 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM01020 SMR P63010 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P63010 STRING 9606.ENSP00000314414 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000314414&targetmode=cogs SUPFAM SSF48371 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48371 SUPFAM SSF49348 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF49348 SUPFAM SSF55711 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF55711 UCSC uc002hjq http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002hjq&org=rat UniGene Hs.514819 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.514819 UniProtKB AP2B1_HUMAN http://www.uniprot.org/uniprot/AP2B1_HUMAN UniProtKB-AC P63010 http://www.uniprot.org/uniprot/P63010 charge swissprot:AP2B1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:AP2B1_HUMAN eggNOG COG5096 http://eggnogapi.embl.de/nog_data/html/tree/COG5096 eggNOG KOG1061 http://eggnogapi.embl.de/nog_data/html/tree/KOG1061 epestfind swissprot:AP2B1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:AP2B1_HUMAN garnier swissprot:AP2B1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:AP2B1_HUMAN helixturnhelix swissprot:AP2B1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:AP2B1_HUMAN hmoment swissprot:AP2B1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:AP2B1_HUMAN iep swissprot:AP2B1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:AP2B1_HUMAN inforesidue swissprot:AP2B1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:AP2B1_HUMAN neXtProt NX_P63010 http://www.nextprot.org/db/entry/NX_P63010 octanol swissprot:AP2B1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:AP2B1_HUMAN pepcoil swissprot:AP2B1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:AP2B1_HUMAN pepdigest swissprot:AP2B1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:AP2B1_HUMAN pepinfo swissprot:AP2B1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:AP2B1_HUMAN pepnet swissprot:AP2B1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:AP2B1_HUMAN pepstats swissprot:AP2B1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:AP2B1_HUMAN pepwheel swissprot:AP2B1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:AP2B1_HUMAN pepwindow swissprot:AP2B1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:AP2B1_HUMAN sigcleave swissprot:AP2B1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:AP2B1_HUMAN ## Database ID URL or Descriptions # AltName VATB2_HUMAN Endomembrane proton pump 58 kDa subunit # AltName VATB2_HUMAN HO57 # AltName VATB2_HUMAN Vacuolar proton pump subunit B 2 # BioGrid 107009 114 # ChiTaRS ATP6V1B2 human # DISEASE VATB2_HUMAN Zimmermann-Laband syndrome 2 (ZLS2) [MIM 616455] A disorder characterized by gingival fibromatosis, dysplastic or absent nails, finger abnormalities, hepatosplenomegaly, and abnormalities of the cartilage of the nose and/or ears. {ECO 0000269|PubMed 24913193, ECO 0000269|PubMed 25915598}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DrugBank DB05260 Gallium nitrate # Ensembl ENST00000276390 ENSP00000276390; ENSG00000147416 # ExpressionAtlas P21281 baseline and differential # FUNCTION VATB2_HUMAN Non-catalytic subunit of the peripheral V1 complex of vacuolar ATPase. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. # GO_component GO:0001726 ruffle; IEA:Ensembl. # GO_component GO:0005765 lysosomal membrane; IDA:UniProtKB. # GO_component GO:0005829 cytosol; ISS:UniProtKB. # GO_component GO:0005886 plasma membrane; ISS:UniProtKB. # GO_component GO:0005902 microvillus; IEA:Ensembl. # GO_component GO:0012505 endomembrane system; IEA:UniProtKB-SubCell. # GO_component GO:0016021 integral component of membrane; IEA:Ensembl. # GO_component GO:0033180 proton-transporting V-type ATPase, V1 domain; IEA:InterPro. # GO_component GO:0042470 melanosome; IEA:UniProtKB-SubCell. # GO_component GO:0043209 myelin sheath; IEA:Ensembl. # GO_component GO:0043231 intracellular membrane-bounded organelle; IDA:HPA. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0005524 ATP binding; IEA:InterPro. # GO_function GO:0015078 hydrogen ion transmembrane transporter activity; TAS:ProtInc. # GO_function GO:0046961 proton-transporting ATPase activity, rotational mechanism; TAS:ProtInc. # GO_process GO:0008286 insulin receptor signaling pathway; TAS:Reactome. # GO_process GO:0015991 ATP hydrolysis coupled proton transport; IEA:InterPro. # GO_process GO:0015992 proton transport; TAS:ProtInc. # GO_process GO:0016241 regulation of macroautophagy; NAS:ParkinsonsUK-UCL. # GO_process GO:0033572 transferrin transport; TAS:Reactome. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0046034 ATP metabolic process; IEA:InterPro. # GO_process GO:0090383 phagosome acidification; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005829 cytosol # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0031410 cytoplasmic vesicle # GOslim_component GO:0043226 organelle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0044281 small molecule metabolic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 3.40.50.300 -; 1. # Genevisible P21281 HS # HAMAP MF_00310 ATP_synth_B_arch # HGNC HGNC:854 ATP6V1B2 # INTERACTION VATB2_HUMAN P15884 TCF4; NbExp=3; IntAct=EBI-4290814, EBI-533224; # IntAct P21281 36 # InterPro IPR000194 ATPase_F1/V1/A1_a/bsu_nucl-bd # InterPro IPR004100 ATPase_F1/V1/A1_a/bsu_N # InterPro IPR005723 ATPase_V1-cplx_bsu # InterPro IPR020003 ATPase_a/bsu_AS # InterPro IPR022879 V-ATPase_su_B/beta # InterPro IPR027417 P-loop_NTPase # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Brite ko01000 Enzymes # KEGG_Disease H01573 [Skeletal dysplasia; Developmental disorder] Zimmermann-Laband syndrome (ZLS) # KEGG_Pathway ko00190 Oxidative phosphorylation # KEGG_Pathway ko04145 Phagosome # KEGG_Pathway ko04721 Synaptic vesicle cycle # KEGG_Pathway ko04966 Collecting duct acid secretion # KEGG_Pathway ko05110 Vibrio cholerae infection # KEGG_Pathway ko05120 Epithelial cell signaling in Helicobacter pylori infection # KEGG_Pathway ko05323 Rheumatoid arthritis # MIM 606939 gene # MIM 616455 phenotype # Organism VATB2_HUMAN Homo sapiens (Human) # Orphanet 79499 Autosomal dominant deafness-onychodystrophy syndrome # PIR B44138 B44138 # PIR I39208 I39208 # PIRSF PIRSF039114 V-ATPsynth_beta/V-ATPase_B # PROSITE PS00152 ATPASE_ALPHA_BETA # Pfam PF00006 ATP-synt_ab # Pfam PF02874 ATP-synt_ab_N # Proteomes UP000005640 Chromosome 8 # Reactome R-HSA-1222556 ROS, RNS production in response to bacteria # Reactome R-HSA-77387 Insulin receptor recycling # Reactome R-HSA-917977 Transferrin endocytosis and recycling # Reactome R-HSA-983712 Ion channel transport # RecName VATB2_HUMAN V-type proton ATPase subunit B, brain isoform # RefSeq NP_001684 NM_001693.3 # SIMILARITY Belongs to the ATPase alpha/beta chains family. {ECO 0000305}. # SUBCELLULAR LOCATION VATB2_HUMAN Endomembrane system; Peripheral membrane protein. Melanosome. Note=Endomembrane. Identified by mass spectrometry in melanosome fractions from stage I to stage IV. # SUBUNIT V-ATPase is a heteromultimeric enzyme composed of a peripheral catalytic V1 complex (main components: subunits A, B, C, D, E, and F) attached to an integral membrane V0 proton pore complex (main component the proteolipid protein). # SUPFAM SSF52540 SSF52540 # TCDB 3.A.2.2 the h(+)- or na(+)-translocating f-type, v-type and a-type atpase (f-atpase) superfamily # TIGRFAMs TIGR01040 V-ATPase_V1_B # UCSC uc003wzp human # eggNOG COG1156 LUCA # eggNOG KOG1351 Eukaryota BLAST swissprot:VATB2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:VATB2_HUMAN BioCyc MetaCyc:HS07429-MONOMER http://biocyc.org/getid?id=MetaCyc:HS07429-MONOMER BioCyc ZFISH:HS07429-MONOMER http://biocyc.org/getid?id=ZFISH:HS07429-MONOMER COG COG1156 http://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=COG1156 COXPRESdb 526 http://coxpresdb.jp/data/gene/526.shtml CleanEx HS_ATP6V1B2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ATP6V1B2 DIP DIP-47433N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-47433N DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1021/pr025562r http://dx.doi.org/10.1021/pr025562r DOI 10.1021/pr060363j http://dx.doi.org/10.1021/pr060363j DOI 10.1038/cr.2014.77 http://dx.doi.org/10.1038/cr.2014.77 DOI 10.1038/ng.3282 http://dx.doi.org/10.1038/ng.3282 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.89.8.3541 http://dx.doi.org/10.1073/pnas.89.8.3541 DOI 10.1074/jbc.270.13.7320 http://dx.doi.org/10.1074/jbc.270.13.7320 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DrugBank DB05260 http://www.drugbank.ca/drugs/DB05260 EMBL AK312372 http://www.ebi.ac.uk/ena/data/view/AK312372 EMBL BC003100 http://www.ebi.ac.uk/ena/data/view/BC003100 EMBL BC007309 http://www.ebi.ac.uk/ena/data/view/BC007309 EMBL BC030640 http://www.ebi.ac.uk/ena/data/view/BC030640 EMBL CH471080 http://www.ebi.ac.uk/ena/data/view/CH471080 EMBL CH471080 http://www.ebi.ac.uk/ena/data/view/CH471080 EMBL L35249 http://www.ebi.ac.uk/ena/data/view/L35249 EMBL M60346 http://www.ebi.ac.uk/ena/data/view/M60346 EMBL X62949 http://www.ebi.ac.uk/ena/data/view/X62949 EMBL Z37165 http://www.ebi.ac.uk/ena/data/view/Z37165 Ensembl ENST00000276390 http://www.ensembl.org/id/ENST00000276390 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0001726 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001726 GO_component GO:0005765 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005765 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005902 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005902 GO_component GO:0012505 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0012505 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0033180 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033180 GO_component GO:0042470 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042470 GO_component GO:0043209 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043209 GO_component GO:0043231 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043231 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0015078 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015078 GO_function GO:0046961 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046961 GO_process GO:0008286 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008286 GO_process GO:0015991 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015991 GO_process GO:0015992 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015992 GO_process GO:0016241 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016241 GO_process GO:0033572 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033572 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0046034 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046034 GO_process GO:0090383 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090383 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0031410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 3.40.50.300 http://www.cathdb.info/version/latest/superfamily/3.40.50.300 GeneCards ATP6V1B2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ATP6V1B2 GeneID 526 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=526 GeneTree ENSGT00550000074724 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074724 HAMAP MF_00310 http://hamap.expasy.org/unirule/MF_00310 HGNC HGNC:854 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:854 HOGENOM HOG000165320 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000165320&db=HOGENOM6 HOVERGEN HBG002176 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG002176&db=HOVERGEN HPA HPA008147 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA008147 InParanoid P21281 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P21281 IntAct P21281 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P21281* InterPro IPR000194 http://www.ebi.ac.uk/interpro/entry/IPR000194 InterPro IPR004100 http://www.ebi.ac.uk/interpro/entry/IPR004100 InterPro IPR005723 http://www.ebi.ac.uk/interpro/entry/IPR005723 InterPro IPR020003 http://www.ebi.ac.uk/interpro/entry/IPR020003 InterPro IPR022879 http://www.ebi.ac.uk/interpro/entry/IPR022879 InterPro IPR027417 http://www.ebi.ac.uk/interpro/entry/IPR027417 Jabion 526 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=526 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00002 http://www.genome.jp/dbget-bin/www_bget?ko00002 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Disease H01573 http://www.genome.jp/dbget-bin/www_bget?H01573 KEGG_Gene hsa:526 http://www.genome.jp/dbget-bin/www_bget?hsa:526 KEGG_Orthology KO:K02147 http://www.genome.jp/dbget-bin/www_bget?KO:K02147 KEGG_Pathway ko00190 http://www.genome.jp/kegg-bin/show_pathway?ko00190 KEGG_Pathway ko04145 http://www.genome.jp/kegg-bin/show_pathway?ko04145 KEGG_Pathway ko04721 http://www.genome.jp/kegg-bin/show_pathway?ko04721 KEGG_Pathway ko04966 http://www.genome.jp/kegg-bin/show_pathway?ko04966 KEGG_Pathway ko05110 http://www.genome.jp/kegg-bin/show_pathway?ko05110 KEGG_Pathway ko05120 http://www.genome.jp/kegg-bin/show_pathway?ko05120 KEGG_Pathway ko05323 http://www.genome.jp/kegg-bin/show_pathway?ko05323 MIM 606939 http://www.ncbi.nlm.nih.gov/omim/606939 MIM 616455 http://www.ncbi.nlm.nih.gov/omim/616455 MINT MINT-5004128 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-5004128 OMA WRERRYL http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=WRERRYL Orphanet 79499 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=79499 OrthoDB EOG091G04TR http://cegg.unige.ch/orthodb/results?searchtext=EOG091G04TR PROSITE PS00152 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00152 PSORT swissprot:VATB2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:VATB2_HUMAN PSORT-B swissprot:VATB2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:VATB2_HUMAN PSORT2 swissprot:VATB2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:VATB2_HUMAN Pfam PF00006 http://pfam.xfam.org/family/PF00006 Pfam PF02874 http://pfam.xfam.org/family/PF02874 PharmGKB PA25155 http://www.pharmgkb.org/do/serve?objId=PA25155&objCls=Gene Phobius swissprot:VATB2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:VATB2_HUMAN PhylomeDB P21281 http://phylomedb.org/?seqid=P21281 ProteinModelPortal P21281 http://www.proteinmodelportal.org/query/uniprot/P21281 PubMed 12643545 http://www.ncbi.nlm.nih.gov/pubmed/12643545 PubMed 1373501 http://www.ncbi.nlm.nih.gov/pubmed/1373501 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 17081065 http://www.ncbi.nlm.nih.gov/pubmed/17081065 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 2145275 http://www.ncbi.nlm.nih.gov/pubmed/2145275 PubMed 24913193 http://www.ncbi.nlm.nih.gov/pubmed/24913193 PubMed 25915598 http://www.ncbi.nlm.nih.gov/pubmed/25915598 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 7706273 http://www.ncbi.nlm.nih.gov/pubmed/7706273 PubMed 7945239 http://www.ncbi.nlm.nih.gov/pubmed/7945239 Reactome R-HSA-1222556 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1222556 Reactome R-HSA-77387 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-77387 Reactome R-HSA-917977 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-917977 Reactome R-HSA-983712 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-983712 RefSeq NP_001684 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001684 SMR P21281 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P21281 STRING 9606.ENSP00000276390 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000276390&targetmode=cogs STRING COG1156 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=COG1156&targetmode=cogs SUPFAM SSF52540 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52540 TCDB 3.A.2.2 http://www.tcdb.org/search/result.php?tc=3.A.2.2 TIGRFAMs TIGR01040 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01040 UCSC uc003wzp http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003wzp&org=rat UniGene Hs.295917 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.295917 UniProtKB VATB2_HUMAN http://www.uniprot.org/uniprot/VATB2_HUMAN UniProtKB-AC P21281 http://www.uniprot.org/uniprot/P21281 charge swissprot:VATB2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:VATB2_HUMAN eggNOG COG1156 http://eggnogapi.embl.de/nog_data/html/tree/COG1156 eggNOG KOG1351 http://eggnogapi.embl.de/nog_data/html/tree/KOG1351 epestfind swissprot:VATB2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:VATB2_HUMAN garnier swissprot:VATB2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:VATB2_HUMAN helixturnhelix swissprot:VATB2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:VATB2_HUMAN hmoment swissprot:VATB2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:VATB2_HUMAN iep swissprot:VATB2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:VATB2_HUMAN inforesidue swissprot:VATB2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:VATB2_HUMAN neXtProt NX_P21281 http://www.nextprot.org/db/entry/NX_P21281 octanol swissprot:VATB2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:VATB2_HUMAN pepcoil swissprot:VATB2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:VATB2_HUMAN pepdigest swissprot:VATB2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:VATB2_HUMAN pepinfo swissprot:VATB2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:VATB2_HUMAN pepnet swissprot:VATB2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:VATB2_HUMAN pepstats swissprot:VATB2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:VATB2_HUMAN pepwheel swissprot:VATB2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:VATB2_HUMAN pepwindow swissprot:VATB2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:VATB2_HUMAN sigcleave swissprot:VATB2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:VATB2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS CLCN3_HUMAN Event=Alternative splicing; Named isoforms=4; Name=1; Synonyms=ClC-3A; IsoId=P51790-1; Sequence=Displayed; Name=2; Synonyms=ClC-3B; IsoId=P51790-2; Sequence=VSP_016073; Name=3; IsoId=P51790-4; Sequence=VSP_045105; Name=4; IsoId=P51790-5; Sequence=VSP_054415; Note=No experimental confirmation available.; # AltName CLCN3_HUMAN Chloride channel protein 3 # AltName CLCN3_HUMAN Chloride transporter ClC-3 # BioGrid 107596 13 # CCDS CCDS34100 -. [P51790-2] # CCDS CCDS34101 -. [P51790-1] # CCDS CCDS58932 -. [P51790-4] # ChiTaRS CLCN3 human # DOMAIN CLCN3_HUMAN Isoform 2 contains a C-terminal PDZ-binding motif mediating the interaction with GOPC. {ECO 0000269|PubMed 11967229}. # Ensembl ENST00000347613 ENSP00000261514; ENSG00000109572. [P51790-2] # Ensembl ENST00000360642 ENSP00000353857; ENSG00000109572. [P51790-4] # Ensembl ENST00000513761 ENSP00000424603; ENSG00000109572. [P51790-1] # ExpressionAtlas P51790 baseline and differential # FUNCTION CLCN3_HUMAN Mediates the exchange of chloride ions against protons. Functions as antiporter and contributes to the acidification of the endosome and synaptic vesicle lumen, and may thereby affect vesicle trafficking and exocytosis. May play an important role in neuronal cell function through regulation of membrane excitability by protein kinase C. It could help neuronal cells to establish short-term memory. {ECO 0000269|PubMed 11967229}. # GO_component GO:0000139 Golgi membrane; IEA:UniProtKB-SubCell. # GO_component GO:0005769 early endosome; IDA:UniProtKB. # GO_component GO:0005770 late endosome; IDA:UniProtKB. # GO_component GO:0005794 Golgi apparatus; IDA:UniProtKB. # GO_component GO:0005886 plasma membrane; IDA:GO_Central. # GO_component GO:0008021 synaptic vesicle; IDA:GO_Central. # GO_component GO:0009897 external side of plasma membrane; IDA:GO_Central. # GO_component GO:0009986 cell surface; NAS:UniProtKB. # GO_component GO:0012506 vesicle membrane; IDA:UniProtKB. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; TAS:UniProtKB. # GO_component GO:0030141 secretory granule; IDA:GO_Central. # GO_component GO:0030658 transport vesicle membrane; IEA:UniProtKB-SubCell. # GO_component GO:0031410 cytoplasmic vesicle; IDA:GO_Central. # GO_component GO:0031901 early endosome membrane; IEA:UniProtKB-SubCell. # GO_component GO:0031902 late endosome membrane; IEA:UniProtKB-SubCell. # GO_component GO:0042581 specific granule; IDA:GO_Central. # GO_component GO:0045335 phagocytic vesicle; IDA:GO_Central. # GO_function GO:0005247 voltage-gated chloride channel activity; TAS:ProtInc. # GO_function GO:0005254 chloride channel activity; TAS:UniProtKB. # GO_function GO:0005524 ATP binding; IEA:UniProtKB-KW. # GO_function GO:0015297 antiporter activity; IEA:UniProtKB-KW. # GO_function GO:0030165 PDZ domain binding; IDA:UniProtKB. # GO_function GO:0031404 chloride ion binding; IBA:GO_Central. # GO_function GO:0042803 protein homodimerization activity; NAS:UniProtKB. # GO_function GO:0046982 protein heterodimerization activity; IDA:UniProtKB. # GO_function GO:0072320 volume-sensitive chloride channel activity; IMP:GO_Central. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0006885 regulation of pH; TAS:UniProtKB. # GO_process GO:0045794 negative regulation of cell volume; IMP:GO_Central. # GO_process GO:0048388 endosomal lumen acidification; TAS:UniProtKB. # GO_process GO:1902476 chloride transmembrane transport; IDA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005768 endosome # GOslim_component GO:0005794 Golgi apparatus # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0031410 cytoplasmic vesicle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.10.3080.10 -; 3. # Genevisible P51790 HS # HGNC HGNC:2021 CLCN3 # IntAct P51790 6 # InterPro IPR000644 CBS_dom # InterPro IPR001807 Cl-channel_volt-gated # InterPro IPR002245 Cl_channel-3 # InterPro IPR014743 Cl-channel_core # KEGG_Brite ko04040 Ion channels # MIM 600580 gene # MISCELLANEOUS The CLC channel family contains both chloride channels and proton-coupled anion transporters that exchange chloride or another anion for protons. The presence of conserved gating glutamate residues is typical for family members that function as antiporters (By similarity). {ECO 0000250}. # Organism CLCN3_HUMAN Homo sapiens (Human) # PIR I37240 I37240 # PRINTS PR00762 CLCHANNEL # PRINTS PR01114 CLCHANNEL3 # PROSITE PS51371 CBS; 2 # PTM CLCN3_HUMAN N-glycosylated. {ECO 0000269|PubMed 11274166, ECO 0000269|PubMed 12471024}. # Pfam PF00571 CBS; 2 # Pfam PF00654 Voltage_CLC # Proteomes UP000005640 Chromosome 4 # Reactome R-HSA-2672351 Stimuli-sensing channels # RecName CLCN3_HUMAN H(+)/Cl(-) exchange transporter 3 # RefSeq NP_001230301 NM_001243372.1. [P51790-4] # RefSeq NP_001230303 NM_001243374.1 # RefSeq NP_001820 NM_001829.3. [P51790-1] # RefSeq NP_776297 NM_173872.3. [P51790-2] # SEQUENCE CAUTION Sequence=BAC54560.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAA55281.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the chloride channel (TC 2.A.49) family. ClC-3/CLCN3 subfamily. {ECO 0000305}. # SIMILARITY Contains 2 CBS domains. {ECO:0000255|PROSITE- ProRule PRU00703}. # SMART SM00116 CBS; 2 # SUBCELLULAR LOCATION CLCN3_HUMAN Isoform 1 Early endosome membrane {ECO 0000269|PubMed 12471024}; Multi-pass membrane protein {ECO 0000255}. Late endosome membrane {ECO 0000269|PubMed 12471024}; Multi-pass membrane protein {ECO 0000255}. Cytoplasmic vesicle, secretory vesicle membrane {ECO 0000250|UniProtKB P51791}; Multi-pass membrane protein {ECO 0000255}. Note=Isoform 1 is localized mainly in late endosomes. {ECO 0000269|PubMed 12471024}. # SUBCELLULAR LOCATION CLCN3_HUMAN Isoform 2 Golgi apparatus membrane {ECO 0000269|PubMed 12471024}; Multi-pass membrane protein {ECO 0000255}. Note=Isoform 2 is mainly enriched in the Golgi. {ECO 0000269|PubMed 12471024}. # SUBUNIT CLCN3_HUMAN Homo- or heterodimer. Isoform 2 interacts with GOPC, PDZK1 and SLC9A3R1/EBP50. {ECO 0000269|PubMed 11967229, ECO 0000269|PubMed 12471024}. # SUPFAM SSF81340 SSF81340; 3 # TISSUE SPECIFICITY CLCN3_HUMAN Expressed primarily in tissues derived from neuroectoderm. Within the brain, its expression is particularly evident in the hippocampus, olfactory cortex, and olfactory bulb. Highly expressed in aortic and coronary vascular smooth muscle cells, and aortic endothelial cells. Also expressed in tracheal and alveolar epithelial cells, and intima and media of the pulmonary vessels. Expressed in bronchus and colon (at protein level). {ECO 0000269|PubMed 10198195, ECO 0000269|PubMed 11967229, ECO 0000269|PubMed 12471024}. # UCSC uc003ish human. [P51790-1] # eggNOG COG0038 LUCA # eggNOG KOG0475 Eukaryota BLAST swissprot:CLCN3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CLCN3_HUMAN BioCyc ZFISH:ENSG00000109572-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000109572-MONOMER COXPRESdb 1182 http://coxpresdb.jp/data/gene/1182.shtml CleanEx HS_CLCN3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CLCN3 DOI 10.1006/geno.1995.1015 http://dx.doi.org/10.1006/geno.1995.1015 DOI 10.1006/jmcc.1998.0901 http://dx.doi.org/10.1006/jmcc.1998.0901 DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.M009376200 http://dx.doi.org/10.1074/jbc.M009376200 DOI 10.1074/jbc.M211050200 http://dx.doi.org/10.1074/jbc.M211050200 DOI 10.1076/ceyr.17.7.708.5162 http://dx.doi.org/10.1076/ceyr.17.7.708.5162 DOI 10.1096/fj.01-0845fje http://dx.doi.org/10.1096/fj.01-0845fje DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 EMBL AB019542 http://www.ebi.ac.uk/ena/data/view/AB019542 EMBL AC084724 http://www.ebi.ac.uk/ena/data/view/AC084724 EMBL AC106878 http://www.ebi.ac.uk/ena/data/view/AC106878 EMBL AF029346 http://www.ebi.ac.uk/ena/data/view/AF029346 EMBL AF172729 http://www.ebi.ac.uk/ena/data/view/AF172729 EMBL AK304362 http://www.ebi.ac.uk/ena/data/view/AK304362 EMBL BC136510 http://www.ebi.ac.uk/ena/data/view/BC136510 EMBL BX647119 http://www.ebi.ac.uk/ena/data/view/BX647119 EMBL CH471056 http://www.ebi.ac.uk/ena/data/view/CH471056 EMBL CH471056 http://www.ebi.ac.uk/ena/data/view/CH471056 EMBL X78520 http://www.ebi.ac.uk/ena/data/view/X78520 EMBL X78520 http://www.ebi.ac.uk/ena/data/view/X78520 Ensembl ENST00000347613 http://www.ensembl.org/id/ENST00000347613 Ensembl ENST00000360642 http://www.ensembl.org/id/ENST00000360642 Ensembl ENST00000513761 http://www.ensembl.org/id/ENST00000513761 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000139 GO_component GO:0005769 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005769 GO_component GO:0005770 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005770 GO_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0008021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008021 GO_component GO:0009897 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009897 GO_component GO:0009986 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009986 GO_component GO:0012506 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0012506 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0030141 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030141 GO_component GO:0030658 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030658 GO_component GO:0031410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410 GO_component GO:0031901 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031901 GO_component GO:0031902 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031902 GO_component GO:0042581 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042581 GO_component GO:0045335 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045335 GO_function GO:0005247 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005247 GO_function GO:0005254 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005254 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0015297 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015297 GO_function GO:0030165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030165 GO_function GO:0031404 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031404 GO_function GO:0042803 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042803 GO_function GO:0046982 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046982 GO_function GO:0072320 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0072320 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0006885 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006885 GO_process GO:0045794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045794 GO_process GO:0048388 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048388 GO_process GO:1902476 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902476 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GOslim_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0031410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.10.3080.10 http://www.cathdb.info/version/latest/superfamily/1.10.3080.10 GeneCards CLCN3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CLCN3 GeneID 1182 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=1182 GeneTree ENSGT00760000119109 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119109 H-InvDB HIX0024545 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0024545 HGNC HGNC:2021 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:2021 HOGENOM HOG000164493 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000164493&db=HOGENOM6 HPA HPA044723 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA044723 InParanoid P51790 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P51790 IntAct P51790 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P51790* InterPro IPR000644 http://www.ebi.ac.uk/interpro/entry/IPR000644 InterPro IPR001807 http://www.ebi.ac.uk/interpro/entry/IPR001807 InterPro IPR002245 http://www.ebi.ac.uk/interpro/entry/IPR002245 InterPro IPR014743 http://www.ebi.ac.uk/interpro/entry/IPR014743 Jabion 1182 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=1182 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:1182 http://www.genome.jp/dbget-bin/www_bget?hsa:1182 KEGG_Orthology KO:K05012 http://www.genome.jp/dbget-bin/www_bget?KO:K05012 MIM 600580 http://www.ncbi.nlm.nih.gov/omim/600580 MINT MINT-1783418 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1783418 OMA SSQLCQY http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=SSQLCQY OrthoDB EOG091G01YH http://cegg.unige.ch/orthodb/results?searchtext=EOG091G01YH PRINTS PR00762 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00762 PRINTS PR01114 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01114 PROSITE PS51371 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51371 PSORT swissprot:CLCN3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CLCN3_HUMAN PSORT-B swissprot:CLCN3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CLCN3_HUMAN PSORT2 swissprot:CLCN3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CLCN3_HUMAN Pfam PF00571 http://pfam.xfam.org/family/PF00571 Pfam PF00654 http://pfam.xfam.org/family/PF00654 PharmGKB PA26548 http://www.pharmgkb.org/do/serve?objId=PA26548&objCls=Gene Phobius swissprot:CLCN3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CLCN3_HUMAN PhylomeDB P51790 http://phylomedb.org/?seqid=P51790 ProteinModelPortal P51790 http://www.proteinmodelportal.org/query/uniprot/P51790 PubMed 10198195 http://www.ncbi.nlm.nih.gov/pubmed/10198195 PubMed 11274166 http://www.ncbi.nlm.nih.gov/pubmed/11274166 PubMed 11967229 http://www.ncbi.nlm.nih.gov/pubmed/11967229 PubMed 12471024 http://www.ncbi.nlm.nih.gov/pubmed/12471024 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 PubMed 7665160 http://www.ncbi.nlm.nih.gov/pubmed/7665160 PubMed 9678416 http://www.ncbi.nlm.nih.gov/pubmed/9678416 Reactome R-HSA-2672351 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2672351 RefSeq NP_001230301 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001230301 RefSeq NP_001230303 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001230303 RefSeq NP_001820 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001820 RefSeq NP_776297 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_776297 SMART SM00116 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00116 SMR P51790 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P51790 STRING 9606.ENSP00000261514 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000261514&targetmode=cogs SUPFAM SSF81340 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81340 UCSC uc003ish http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003ish&org=rat UniGene Hs.481186 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.481186 UniGene Hs.736017 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.736017 UniProtKB CLCN3_HUMAN http://www.uniprot.org/uniprot/CLCN3_HUMAN UniProtKB-AC P51790 http://www.uniprot.org/uniprot/P51790 charge swissprot:CLCN3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CLCN3_HUMAN eggNOG COG0038 http://eggnogapi.embl.de/nog_data/html/tree/COG0038 eggNOG KOG0475 http://eggnogapi.embl.de/nog_data/html/tree/KOG0475 epestfind swissprot:CLCN3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CLCN3_HUMAN garnier swissprot:CLCN3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CLCN3_HUMAN helixturnhelix swissprot:CLCN3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CLCN3_HUMAN hmoment swissprot:CLCN3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CLCN3_HUMAN iep swissprot:CLCN3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CLCN3_HUMAN inforesidue swissprot:CLCN3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CLCN3_HUMAN neXtProt NX_P51790 http://www.nextprot.org/db/entry/NX_P51790 octanol swissprot:CLCN3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CLCN3_HUMAN pepcoil swissprot:CLCN3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CLCN3_HUMAN pepdigest swissprot:CLCN3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CLCN3_HUMAN pepinfo swissprot:CLCN3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CLCN3_HUMAN pepnet swissprot:CLCN3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CLCN3_HUMAN pepstats swissprot:CLCN3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CLCN3_HUMAN pepwheel swissprot:CLCN3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CLCN3_HUMAN pepwindow swissprot:CLCN3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CLCN3_HUMAN sigcleave swissprot:CLCN3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CLCN3_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS ANO4_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q32M45-1; Sequence=Displayed; Name=2; IsoId=Q32M45-2; Sequence=VSP_025742; Name=3; IsoId=Q32M45-3; Sequence=VSP_025741, VSP_025743; Note=No experimental confirmation available.; # AltName ANO4_HUMAN Transmembrane protein 16D # CCDS CCDS31884 -. [Q32M45-2] # CCDS CCDS66445 -. [Q32M45-1] # ChiTaRS ANO4 human # Ensembl ENST00000392977 ENSP00000376703; ENSG00000151572. [Q32M45-1] # Ensembl ENST00000392979 ENSP00000376705; ENSG00000151572. [Q32M45-2] # Ensembl ENST00000550015 ENSP00000450192; ENSG00000151572. [Q32M45-3] # Ensembl ENST00000570509 ENSP00000471431; ENSG00000262139 # Ensembl ENST00000573650 ENSP00000469449; ENSG00000262139 # Ensembl ENST00000575847 ENSP00000470039; ENSG00000262139 # Ensembl ENST00000594618 ENSP00000471210; ENSG00000262139 # ExpressionAtlas Q32M45 baseline and differential # FUNCTION ANO4_HUMAN Has calcium-dependent phospholipid scramblase activity; scrambles phosphatidylserine, phosphatidylcholine and galactosylceramide. Does not exhibit calcium-activated chloride channel (CaCC) activity. {ECO 0000250|UniProtKB Q8C5H1}. # GO_component GO:0005622 intracellular; ISS:UniProtKB. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0005229 intracellular calcium activated chloride channel activity; IDA:UniProtKB. # GO_function GO:0017128 phospholipid scramblase activity; IEA:Ensembl. # GO_process GO:0006821 chloride transport; IDA:UniProtKB. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0061589 calcium activated phosphatidylserine scrambling; IEA:Ensembl. # GO_process GO:0061590 calcium activated phosphatidylcholine scrambling; IEA:Ensembl. # GO_process GO:0061591 calcium activated galactosylceramide scrambling; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005622 intracellular # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007009 plasma membrane organization # GOslim_process GO:0055085 transmembrane transport # Genevisible Q32M45 HS # HGNC HGNC:23837 ANO4 # InterPro IPR007632 Anoctamin # InterPro IPR031293 Anoctamin-4 # InterPro IPR032394 Anoct_dimer # MIM 610111 gene # MISCELLANEOUS ANO4_HUMAN The term 'anoctamin' was coined because these channels are anion selective and have eight (OCT) transmembrane segments. There is some dissatisfaction in the field with the Ano nomenclature because it is not certain that all the members of this family are anion channels or have the 8-transmembrane topology. # Organism ANO4_HUMAN Homo sapiens (Human) # PANTHER PTHR12308 PTHR12308 # PANTHER PTHR12308:SF28 PTHR12308:SF28 # Pfam PF04547 Anoctamin # Pfam PF16178 Anoct_dimer # Proteomes UP000005640 Chromosome 12 # Reactome R-HSA-2672351 Stimuli-sensing channels # RecName ANO4_HUMAN Anoctamin-4 # RefSeq NP_001273544 NM_001286615.1. [Q32M45-1] # RefSeq NP_001273545 NM_001286616.1. [Q32M45-1] # RefSeq NP_849148 NM_178826.3. [Q32M45-2] # RefSeq XP_011536216 XM_011537914.2. [Q32M45-2] # RefSeq XP_016874297 XM_017018808.1. [Q32M45-2] # RefSeq XP_016874298 XM_017018809.1. [Q32M45-1] # RefSeq XP_016874299 XM_017018810.1. [Q32M45-2] # SEQUENCE CAUTION Sequence=BAC03688.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the anoctamin family. {ECO 0000305}. # SUBCELLULAR LOCATION ANO4_HUMAN Cell membrane {ECO 0000269|PubMed 22946059}; Multi-pass membrane protein {ECO 0000269|PubMed 22946059}. Note=Shows an intracellular localization. {ECO 0000250|UniProtKB Q8C5H1}. # UCSC uc001thw human. [Q32M45-1] # eggNOG ENOG410XS4S LUCA # eggNOG KOG2514 Eukaryota BLAST swissprot:ANO4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ANO4_HUMAN COXPRESdb 121601 http://coxpresdb.jp/data/gene/121601.shtml CleanEx HS_ANO4 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ANO4 DOI 10.1007/s00424-011-0975-9 http://dx.doi.org/10.1007/s00424-011-0975-9 DOI 10.1038/aps.2011.48 http://dx.doi.org/10.1038/aps.2011.48 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1113/expphysiol.2011.058214 http://dx.doi.org/10.1113/expphysiol.2011.058214 DOI 10.1242/jcs.109553 http://dx.doi.org/10.1242/jcs.109553 EMBL AK091540 http://www.ebi.ac.uk/ena/data/view/AK091540 EMBL AK091591 http://www.ebi.ac.uk/ena/data/view/AK091591 EMBL AK092596 http://www.ebi.ac.uk/ena/data/view/AK092596 EMBL BC109308 http://www.ebi.ac.uk/ena/data/view/BC109308 Ensembl ENST00000392977 http://www.ensembl.org/id/ENST00000392977 Ensembl ENST00000392979 http://www.ensembl.org/id/ENST00000392979 Ensembl ENST00000550015 http://www.ensembl.org/id/ENST00000550015 Ensembl ENST00000570509 http://www.ensembl.org/id/ENST00000570509 Ensembl ENST00000573650 http://www.ensembl.org/id/ENST00000573650 Ensembl ENST00000575847 http://www.ensembl.org/id/ENST00000575847 Ensembl ENST00000594618 http://www.ensembl.org/id/ENST00000594618 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005622 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005622 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005229 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005229 GO_function GO:0017128 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0017128 GO_process GO:0006821 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006821 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0061589 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061589 GO_process GO:0061590 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061590 GO_process GO:0061591 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061591 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005622 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005622 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007009 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007009 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards ANO4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ANO4 GeneID 121601 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=121601 GeneTree ENSGT00760000119015 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119015 HGNC HGNC:23837 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:23837 HOGENOM HOG000006509 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000006509&db=HOGENOM6 HOVERGEN HBG069519 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG069519&db=HOVERGEN HPA HPA053412 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA053412 InParanoid Q32M45 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q32M45 InterPro IPR007632 http://www.ebi.ac.uk/interpro/entry/IPR007632 InterPro IPR031293 http://www.ebi.ac.uk/interpro/entry/IPR031293 InterPro IPR032394 http://www.ebi.ac.uk/interpro/entry/IPR032394 Jabion 121601 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=121601 KEGG_Gene hsa:121601 http://www.genome.jp/dbget-bin/www_bget?hsa:121601 MIM 610111 http://www.ncbi.nlm.nih.gov/omim/610111 OMA HHILQRV http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=HHILQRV OrthoDB EOG091G01JF http://cegg.unige.ch/orthodb/results?searchtext=EOG091G01JF PANTHER PTHR12308 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12308 PANTHER PTHR12308:SF28 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12308:SF28 PSORT swissprot:ANO4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ANO4_HUMAN PSORT-B swissprot:ANO4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ANO4_HUMAN PSORT2 swissprot:ANO4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ANO4_HUMAN Pfam PF04547 http://pfam.xfam.org/family/PF04547 Pfam PF16178 http://pfam.xfam.org/family/PF16178 PharmGKB PA164715582 http://www.pharmgkb.org/do/serve?objId=PA164715582&objCls=Gene Phobius swissprot:ANO4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ANO4_HUMAN PhylomeDB Q32M45 http://phylomedb.org/?seqid=Q32M45 ProteinModelPortal Q32M45 http://www.proteinmodelportal.org/query/uniprot/Q32M45 PubMed 12739008 http://www.ncbi.nlm.nih.gov/pubmed/12739008 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 21607626 http://www.ncbi.nlm.nih.gov/pubmed/21607626 PubMed 21642943 http://www.ncbi.nlm.nih.gov/pubmed/21642943 PubMed 22302790 http://www.ncbi.nlm.nih.gov/pubmed/22302790 PubMed 22946059 http://www.ncbi.nlm.nih.gov/pubmed/22946059 Reactome R-HSA-2672351 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2672351 RefSeq NP_001273544 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001273544 RefSeq NP_001273545 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001273545 RefSeq NP_849148 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_849148 RefSeq XP_011536216 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011536216 RefSeq XP_016874297 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016874297 RefSeq XP_016874298 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016874298 RefSeq XP_016874299 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016874299 SMR Q32M45 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q32M45 STRING 9606.ENSP00000376705 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000376705&targetmode=cogs UCSC uc001thw http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001thw&org=rat UniGene Hs.58785 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.58785 UniProtKB ANO4_HUMAN http://www.uniprot.org/uniprot/ANO4_HUMAN UniProtKB-AC Q32M45 http://www.uniprot.org/uniprot/Q32M45 charge swissprot:ANO4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ANO4_HUMAN eggNOG ENOG410XS4S http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XS4S eggNOG KOG2514 http://eggnogapi.embl.de/nog_data/html/tree/KOG2514 epestfind swissprot:ANO4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ANO4_HUMAN garnier swissprot:ANO4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ANO4_HUMAN helixturnhelix swissprot:ANO4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ANO4_HUMAN hmoment swissprot:ANO4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ANO4_HUMAN iep swissprot:ANO4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ANO4_HUMAN inforesidue swissprot:ANO4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ANO4_HUMAN neXtProt NX_Q32M45 http://www.nextprot.org/db/entry/NX_Q32M45 octanol swissprot:ANO4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ANO4_HUMAN pepcoil swissprot:ANO4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ANO4_HUMAN pepdigest swissprot:ANO4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ANO4_HUMAN pepinfo swissprot:ANO4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ANO4_HUMAN pepnet swissprot:ANO4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ANO4_HUMAN pepstats swissprot:ANO4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ANO4_HUMAN pepwheel swissprot:ANO4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ANO4_HUMAN pepwindow swissprot:ANO4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ANO4_HUMAN sigcleave swissprot:ANO4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ANO4_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS ANO9_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=A1A5B4-1; Sequence=Displayed; Name=2; IsoId=A1A5B4-2; Sequence=VSP_036489, VSP_036492; Name=3; IsoId=A1A5B4-3; Sequence=VSP_036490, VSP_036491; # AltName ANO9_HUMAN Transmembrane protein 16J # AltName ANO9_HUMAN Tumor protein p53-inducible protein 5 # AltName ANO9_HUMAN p53-induced gene 5 protein # CCDS CCDS31326 -. [A1A5B4-1] # ChiTaRS ANO9 human # Ensembl ENST00000332826 ENSP00000332788; ENSG00000185101. [A1A5B4-1] # FUNCTION ANO9_HUMAN Has calcium-dependent phospholipid scramblase activity; scrambles phosphatidylserine, phosphatidylcholine and galactosylceramide (By similarity). Does not exhibit calcium- activated chloride channel (CaCC) activity. Can inhibit the activity of ANO1. {ECO 0000250|UniProtKB P86044, ECO 0000269|PubMed 20056604, ECO 0000269|PubMed 22946059}. # GO_component GO:0005622 intracellular; IEA:Ensembl. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0005229 intracellular calcium activated chloride channel activity; IMP:UniProtKB. # GO_function GO:0017128 phospholipid scramblase activity; IEA:Ensembl. # GO_process GO:0006821 chloride transport; IMP:UniProtKB. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0061589 calcium activated phosphatidylserine scrambling; IEA:Ensembl. # GO_process GO:0061590 calcium activated phosphatidylcholine scrambling; IEA:Ensembl. # GO_process GO:0061591 calcium activated galactosylceramide scrambling; IEA:Ensembl. # GO_process GO:1902939 negative regulation of intracellular calcium activated chloride channel activity; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005622 intracellular # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007009 plasma membrane organization # GOslim_process GO:0008150 biological_process # GOslim_process GO:0055085 transmembrane transport # Genevisible A1A5B4 HS # HGNC HGNC:20679 ANO9 # InterPro IPR007632 Anoctamin # InterPro IPR031290 Anoctamin-9 # MISCELLANEOUS ANO9_HUMAN The term 'anoctamin' was coined because these channels are anion selective and have eight (OCT) transmembrane segments. There is some dissatisfaction in the field with the Ano nomenclature because it is not certain that all the members of this family are anion channels or have the 8-transmembrane topology. # Organism ANO9_HUMAN Homo sapiens (Human) # PANTHER PTHR12308 PTHR12308 # PANTHER PTHR12308:SF37 PTHR12308:SF37 # Pfam PF04547 Anoctamin # Proteomes UP000005640 Chromosome 11 # Reactome R-HSA-2672351 Stimuli-sensing channels # RecName ANO9_HUMAN Anoctamin-9 # RefSeq NP_001012302 NM_001012302.2. [A1A5B4-1] # RefSeq XP_011518355 XM_011520053.2. [A1A5B4-2] # SEQUENCE CAUTION Sequence=BAB84914.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the anoctamin family. {ECO 0000305}. # SUBCELLULAR LOCATION ANO9_HUMAN Cell membrane {ECO 0000269|PubMed 20056604, ECO 0000269|PubMed 22946059}; Multi-pass membrane protein {ECO 0000269|PubMed 20056604, ECO 0000269|PubMed 22946059}. Note=Shows predominantly an intracellular localization with a weak expression in the cell membrane. # TCDB 1.A.17.1 the calcium-dependent chloride channel (ca-clc) family # UCSC uc001lpi human. [A1A5B4-1] # eggNOG ENOG410XS4S LUCA # eggNOG KOG2514 Eukaryota BLAST swissprot:ANO9_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ANO9_HUMAN COXPRESdb 338440 http://coxpresdb.jp/data/gene/338440.shtml CleanEx HS_ANO9 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ANO9 DOI 10.1007/s00424-011-0975-9 http://dx.doi.org/10.1007/s00424-011-0975-9 DOI 10.1038/aps.2011.48 http://dx.doi.org/10.1038/aps.2011.48 DOI 10.1038/nature04632 http://dx.doi.org/10.1038/nature04632 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.M109.065367 http://dx.doi.org/10.1074/jbc.M109.065367 DOI 10.1093/dnares/10.1.49 http://dx.doi.org/10.1093/dnares/10.1.49 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1113/expphysiol.2011.058198 http://dx.doi.org/10.1113/expphysiol.2011.058198 DOI 10.1113/expphysiol.2011.058214 http://dx.doi.org/10.1113/expphysiol.2011.058214 DOI 10.1159/000335765 http://dx.doi.org/10.1159/000335765 DOI 10.1242/jcs.109553 http://dx.doi.org/10.1242/jcs.109553 EMBL AC138230 http://www.ebi.ac.uk/ena/data/view/AC138230 EMBL AK074088 http://www.ebi.ac.uk/ena/data/view/AK074088 EMBL AK096874 http://www.ebi.ac.uk/ena/data/view/AK096874 EMBL AK303642 http://www.ebi.ac.uk/ena/data/view/AK303642 EMBL BC128557 http://www.ebi.ac.uk/ena/data/view/BC128557 Ensembl ENST00000332826 http://www.ensembl.org/id/ENST00000332826 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005622 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005622 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005229 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005229 GO_function GO:0017128 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0017128 GO_process GO:0006821 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006821 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0061589 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061589 GO_process GO:0061590 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061590 GO_process GO:0061591 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061591 GO_process GO:1902939 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902939 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005622 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005622 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007009 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007009 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards ANO9 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ANO9 GeneID 338440 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=338440 GeneTree ENSGT00760000119015 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119015 HGNC HGNC:20679 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:20679 HOGENOM HOG000006509 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000006509&db=HOGENOM6 HOVERGEN HBG100444 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG100444&db=HOVERGEN HPA HPA039948 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA039948 InParanoid A1A5B4 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=A1A5B4 IntAct A1A5B4 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=A1A5B4* InterPro IPR007632 http://www.ebi.ac.uk/interpro/entry/IPR007632 InterPro IPR031290 http://www.ebi.ac.uk/interpro/entry/IPR031290 Jabion 338440 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=338440 KEGG_Gene hsa:338440 http://www.genome.jp/dbget-bin/www_bget?hsa:338440 OMA KYHYGPC http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=KYHYGPC OrthoDB EOG091G02JM http://cegg.unige.ch/orthodb/results?searchtext=EOG091G02JM PANTHER PTHR12308 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12308 PANTHER PTHR12308:SF37 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12308:SF37 PSORT swissprot:ANO9_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ANO9_HUMAN PSORT-B swissprot:ANO9_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ANO9_HUMAN PSORT2 swissprot:ANO9_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ANO9_HUMAN Pfam PF04547 http://pfam.xfam.org/family/PF04547 PharmGKB PA164715791 http://www.pharmgkb.org/do/serve?objId=PA164715791&objCls=Gene Phobius swissprot:ANO9_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ANO9_HUMAN ProteinModelPortal A1A5B4 http://www.proteinmodelportal.org/query/uniprot/A1A5B4 PubMed 12693554 http://www.ncbi.nlm.nih.gov/pubmed/12693554 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16554811 http://www.ncbi.nlm.nih.gov/pubmed/16554811 PubMed 20056604 http://www.ncbi.nlm.nih.gov/pubmed/20056604 PubMed 21607626 http://www.ncbi.nlm.nih.gov/pubmed/21607626 PubMed 21642943 http://www.ncbi.nlm.nih.gov/pubmed/21642943 PubMed 21984732 http://www.ncbi.nlm.nih.gov/pubmed/21984732 PubMed 22178883 http://www.ncbi.nlm.nih.gov/pubmed/22178883 PubMed 22302790 http://www.ncbi.nlm.nih.gov/pubmed/22302790 PubMed 22946059 http://www.ncbi.nlm.nih.gov/pubmed/22946059 Reactome R-HSA-2672351 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2672351 RefSeq NP_001012302 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001012302 RefSeq XP_011518355 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011518355 STRING 9606.ENSP00000332788 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000332788&targetmode=cogs TCDB 1.A.17.1 http://www.tcdb.org/search/result.php?tc=1.A.17.1 UCSC uc001lpi http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001lpi&org=rat UniGene Hs.501622 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.501622 UniProtKB ANO9_HUMAN http://www.uniprot.org/uniprot/ANO9_HUMAN UniProtKB-AC A1A5B4 http://www.uniprot.org/uniprot/A1A5B4 charge swissprot:ANO9_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ANO9_HUMAN eggNOG ENOG410XS4S http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XS4S eggNOG KOG2514 http://eggnogapi.embl.de/nog_data/html/tree/KOG2514 epestfind swissprot:ANO9_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ANO9_HUMAN garnier swissprot:ANO9_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ANO9_HUMAN helixturnhelix swissprot:ANO9_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ANO9_HUMAN hmoment swissprot:ANO9_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ANO9_HUMAN iep swissprot:ANO9_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ANO9_HUMAN inforesidue swissprot:ANO9_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ANO9_HUMAN neXtProt NX_A1A5B4 http://www.nextprot.org/db/entry/NX_A1A5B4 octanol swissprot:ANO9_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ANO9_HUMAN pepcoil swissprot:ANO9_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ANO9_HUMAN pepdigest swissprot:ANO9_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ANO9_HUMAN pepinfo swissprot:ANO9_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ANO9_HUMAN pepnet swissprot:ANO9_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ANO9_HUMAN pepstats swissprot:ANO9_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ANO9_HUMAN pepwheel swissprot:ANO9_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ANO9_HUMAN pepwindow swissprot:ANO9_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ANO9_HUMAN sigcleave swissprot:ANO9_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ANO9_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S22AF_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8IZD6-1; Sequence=Displayed; Name=2; IsoId=Q8IZD6-2; Sequence=VSP_034059, VSP_034060; # AltName S22AF_HUMAN Fly-like putative transporter 1 # CCDS CCDS44198 -. [Q8IZD6-1] # CDD cd06174 MFS # DEVELOPMENTAL STAGE Expressed at low levels at 20-25 weeks of gestation in fetal brain, lung, liver and kidney. {ECO:0000269|PubMed 12372408}. # Ensembl ENST00000369502 ENSP00000358514; ENSG00000163393. [Q8IZD6-2] # Ensembl ENST00000369503 ENSP00000358515; ENSG00000163393. [Q8IZD6-1] # FUNCTION S22AF_HUMAN Probably transports organic cations (By similarity). Appears not to be the agmatine transporter. {ECO 0000250, ECO 0000269|PubMed 15028572}. # GO_component GO:0016021 integral component of membrane; IBA:GO_Central. # GO_function GO:0022891 substrate-specific transmembrane transporter activity; IBA:GO_Central. # GO_process GO:0006811 ion transport; IEA:UniProtKB-KW. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # Genevisible Q8IZD6 HS # HGNC HGNC:20301 SLC22A15 # InterPro IPR005828 MFS_sugar_transport-like # InterPro IPR020846 MFS_dom # KEGG_Brite ko02000 Transporters # KEGG_Brite ko02001 Solute carrier family # MIM 608275 gene # Organism S22AF_HUMAN Homo sapiens (Human) # PIR T48683 T48683 # PROSITE PS50850 MFS # Pfam PF00083 Sugar_tr # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-549127 Organic cation transport # RecName S22AF_HUMAN Solute carrier family 22 member 15 # RefSeq NP_060890 NM_018420.2. [Q8IZD6-1] # SEQUENCE CAUTION Sequence=AAH26358.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH26358.1; Type=Frameshift; Positions=7; Evidence={ECO 0000305}; # SIMILARITY Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family. {ECO 0000305}. # SUBCELLULAR LOCATION S22AF_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # SUPFAM SSF103473 SSF103473 # TCDB 2.A.1.19.32 the major facilitator superfamily (mfs) # TISSUE SPECIFICITY S22AF_HUMAN Expressed at highest levels in kidney and brain. Expressed at high levels in skeletal muscle, heart, liver, placenta and white blood cells. Expressed at moderate levels in lung and spleen. Expressed at low levels in thymus, small intestine and colon. Expressed in several intestinal tumor cell lines. {ECO 0000269|PubMed 12372408, ECO 0000269|PubMed 15028572}. # UCSC uc001ega human. [Q8IZD6-1] # eggNOG ENOG410IRI2 Eukaryota # eggNOG ENOG4110YHH LUCA BLAST swissprot:S22AF_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S22AF_HUMAN COXPRESdb 55356 http://coxpresdb.jp/data/gene/55356.shtml CleanEx HS_SLC22A15 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC22A15 DOI 10.1016/S0006-291X(02)02343-4 http://dx.doi.org/10.1016/S0006-291X(02)02343-4 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1101/gr.1293003 http://dx.doi.org/10.1101/gr.1293003 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 DOI 10.1196/annals.1304.008 http://dx.doi.org/10.1196/annals.1304.008 EMBL AL353933 http://www.ebi.ac.uk/ena/data/view/AL353933 EMBL AL357137 http://www.ebi.ac.uk/ena/data/view/AL357137 EMBL AL357137 http://www.ebi.ac.uk/ena/data/view/AL357137 EMBL AL357137 http://www.ebi.ac.uk/ena/data/view/AL357137 EMBL AL357137 http://www.ebi.ac.uk/ena/data/view/AL357137 EMBL AL365318 http://www.ebi.ac.uk/ena/data/view/AL365318 EMBL AL365318 http://www.ebi.ac.uk/ena/data/view/AL365318 EMBL AL365318 http://www.ebi.ac.uk/ena/data/view/AL365318 EMBL AL365318 http://www.ebi.ac.uk/ena/data/view/AL365318 EMBL AY145501 http://www.ebi.ac.uk/ena/data/view/AY145501 EMBL AY358258 http://www.ebi.ac.uk/ena/data/view/AY358258 EMBL BC026358 http://www.ebi.ac.uk/ena/data/view/BC026358 EMBL CH471122 http://www.ebi.ac.uk/ena/data/view/CH471122 Ensembl ENST00000369502 http://www.ensembl.org/id/ENST00000369502 Ensembl ENST00000369503 http://www.ensembl.org/id/ENST00000369503 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0022891 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022891 GO_process GO:0006811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006811 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GeneCards SLC22A15 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC22A15 GeneID 55356 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=55356 GeneTree ENSGT00860000133730 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00860000133730 HGNC HGNC:20301 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:20301 HOGENOM HOG000234568 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000234568&db=HOGENOM6 HOVERGEN HBG108435 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG108435&db=HOVERGEN HPA HPA019785 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA019785 InParanoid Q8IZD6 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8IZD6 InterPro IPR005828 http://www.ebi.ac.uk/interpro/entry/IPR005828 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 55356 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=55356 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:55356 http://www.genome.jp/dbget-bin/www_bget?hsa:55356 KEGG_Orthology KO:K08211 http://www.genome.jp/dbget-bin/www_bget?KO:K08211 MIM 608275 http://www.ncbi.nlm.nih.gov/omim/608275 OMA FATFEAT http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=FATFEAT OrthoDB EOG091G05DV http://cegg.unige.ch/orthodb/results?searchtext=EOG091G05DV PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PSORT swissprot:S22AF_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S22AF_HUMAN PSORT-B swissprot:S22AF_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S22AF_HUMAN PSORT2 swissprot:S22AF_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S22AF_HUMAN Pfam PF00083 http://pfam.xfam.org/family/PF00083 PharmGKB PA134870374 http://www.pharmgkb.org/do/serve?objId=PA134870374&objCls=Gene Phobius swissprot:S22AF_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S22AF_HUMAN PhylomeDB Q8IZD6 http://phylomedb.org/?seqid=Q8IZD6 ProteinModelPortal Q8IZD6 http://www.proteinmodelportal.org/query/uniprot/Q8IZD6 PubMed 12372408 http://www.ncbi.nlm.nih.gov/pubmed/12372408 PubMed 12975309 http://www.ncbi.nlm.nih.gov/pubmed/12975309 PubMed 15028572 http://www.ncbi.nlm.nih.gov/pubmed/15028572 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 Reactome R-HSA-549127 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-549127 RefSeq NP_060890 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_060890 STRING 9606.ENSP00000358515 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000358515&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.1.19.32 http://www.tcdb.org/search/result.php?tc=2.A.1.19.32 UCSC uc001ega http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001ega&org=rat UniGene Hs.125482 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.125482 UniProtKB S22AF_HUMAN http://www.uniprot.org/uniprot/S22AF_HUMAN UniProtKB-AC Q8IZD6 http://www.uniprot.org/uniprot/Q8IZD6 charge swissprot:S22AF_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S22AF_HUMAN eggNOG ENOG410IRI2 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IRI2 eggNOG ENOG4110YHH http://eggnogapi.embl.de/nog_data/html/tree/ENOG4110YHH epestfind swissprot:S22AF_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S22AF_HUMAN garnier swissprot:S22AF_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S22AF_HUMAN helixturnhelix swissprot:S22AF_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S22AF_HUMAN hmoment swissprot:S22AF_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S22AF_HUMAN iep swissprot:S22AF_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S22AF_HUMAN inforesidue swissprot:S22AF_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S22AF_HUMAN neXtProt NX_Q8IZD6 http://www.nextprot.org/db/entry/NX_Q8IZD6 octanol swissprot:S22AF_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S22AF_HUMAN pepcoil swissprot:S22AF_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S22AF_HUMAN pepdigest swissprot:S22AF_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S22AF_HUMAN pepinfo swissprot:S22AF_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S22AF_HUMAN pepnet swissprot:S22AF_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S22AF_HUMAN pepstats swissprot:S22AF_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S22AF_HUMAN pepwheel swissprot:S22AF_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S22AF_HUMAN pepwindow swissprot:S22AF_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S22AF_HUMAN sigcleave swissprot:S22AF_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S22AF_HUMAN ## Database ID URL or Descriptions # AltName SL9A9_HUMAN Na(+)/H(+) exchanger 9 # AltName SL9A9_HUMAN Solute carrier family 9 member 9 # ChiTaRS SLC9A9 human # DISEASE SL9A9_HUMAN Autism 16 (AUTS16) [MIM 613410] A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate mental retardation. AUTS16 can be associated with epilepsy. {ECO 0000269|PubMed 18621663}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. # DISEASE SL9A9_HUMAN Note=A chromosomal aberration involving SLC9A9 has been found in a family with early-onset behavioral/developmental disorder with features of attention deficit-hyperactivity disorder and intellectual disability. Inversion inv(3)(p14 q21). The inversion disrupts DOCK3 and SLC9A9. # Ensembl ENST00000316549 ENSP00000320246; ENSG00000181804 # ExpressionAtlas Q8IVB4 baseline and differential # FUNCTION SL9A9_HUMAN May act in electroneutral exchange of protons for Na(+) across membranes. Involved in the effusion of Golgi luminal H(+) in exchange for cytosolic cations. Involved in organelle ion homeostasis by contributing to the maintenance of the unique acidic pH values of the Golgi and post-Golgi compartments in the cell. {ECO 0000269|PubMed 15522866}. # GO_component GO:0005886 plasma membrane; IBA:GO_Central. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0031902 late endosome membrane; TAS:Reactome. # GO_component GO:0055037 recycling endosome; IDA:UniProtKB. # GO_function SL9A9_HUMAN GO 0015385 sodium proton antiporter activity; IBA GO_Central. # GO_function SL9A9_HUMAN GO 0015386 potassium proton antiporter activity; IBA GO_Central. # GO_process GO:0006811 ion transport; TAS:Reactome. # GO_process GO:0051453 regulation of intracellular pH; IBA:GO_Central. # GO_process GO:0071805 potassium ion transmembrane transport; IBA:GO_Central. # GO_process GO:0098719 sodium ion import across plasma membrane; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005768 endosome # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Genevisible Q8IVB4 HS # HGNC HGNC:20653 SLC9A9 # INTERACTION SL9A9_HUMAN Q8IUH5 ZDHHC17; NbExp=2; IntAct=EBI-9092184, EBI-524753; # InterPro IPR002090 Na/H_exchanger_6 # InterPro IPR004709 NaH_exchanger # InterPro IPR006153 Cation/H_exchanger # InterPro IPR018416 Na/H_exchanger_9 # InterPro IPR018422 Cation/H_exchanger_CPA1 # KEGG_Brite ko02001 Solute carrier family # MIM 608396 gene # MIM 613410 phenotype # Organism SL9A9_HUMAN Homo sapiens (Human) # Orphanet 106 Autism # PANTHER PTHR10110 PTHR10110; 2 # PANTHER PTHR10110:SF61 PTHR10110:SF61; 2 # PRINTS PR01084 NAHEXCHNGR # PRINTS PR01088 NAHEXCHNGR6 # Pfam PF00999 Na_H_Exchanger # Proteomes UP000005640 Chromosome 3 # Reactome R-HSA-425986 Sodium/Proton exchangers # RecName SL9A9_HUMAN Sodium/hydrogen exchanger 9 # RefSeq NP_775924 NM_173653.3 # SEQUENCE CAUTION Sequence=BAC04005.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family. {ECO 0000305}. # SUBCELLULAR LOCATION SL9A9_HUMAN Late endosome membrane {ECO 0000269|PubMed 15522866}; Multi-pass membrane protein {ECO 0000269|PubMed 15522866}. # TCDB 2.A.36.1.19:the monovalent cation proton antiporter-1 (cpa1) family # TIGRFAMs TIGR00840 b_cpa1 # TISSUE SPECIFICITY SL9A9_HUMAN Ubiquitously expressed in all tissues tested. Expressed at highest levels in heart and skeletal muscle, followed by placenta, kidney, and liver. Expressed in the brain, in the medulla and spinal cord. {ECO 0000269|PubMed 14569117, ECO 0000269|PubMed 15522866}. # UCSC uc003evn human # eggNOG COG0025 LUCA # eggNOG KOG1965 Eukaryota BLAST swissprot:SL9A9_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SL9A9_HUMAN COXPRESdb 285195 http://coxpresdb.jp/data/gene/285195.shtml CleanEx HS_SLC9A9 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC9A9 DOI 10.1016/S0304-3835(03)00085-5 http://dx.doi.org/10.1016/S0304-3835(03)00085-5 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/pr8008012 http://dx.doi.org/10.1021/pr8008012 DOI 10.1038/nature04728 http://dx.doi.org/10.1038/nature04728 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.M410041200 http://dx.doi.org/10.1074/jbc.M410041200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1157657 http://dx.doi.org/10.1126/science.1157657 DOI 10.1136/jmg.40.10.733 http://dx.doi.org/10.1136/jmg.40.10.733 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 EMBL AB075486 http://www.ebi.ac.uk/ena/data/view/AB075486 EMBL AB089794 http://www.ebi.ac.uk/ena/data/view/AB089794 EMBL AC131210 http://www.ebi.ac.uk/ena/data/view/AC131210 EMBL AK092932 http://www.ebi.ac.uk/ena/data/view/AK092932 EMBL AL832304 http://www.ebi.ac.uk/ena/data/view/AL832304 EMBL AY254100 http://www.ebi.ac.uk/ena/data/view/AY254100 EMBL BC035779 http://www.ebi.ac.uk/ena/data/view/BC035779 Ensembl ENST00000316549 http://www.ensembl.org/id/ENST00000316549 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0031902 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031902 GO_component GO:0055037 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055037 GO_function GO:0015385 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015385 GO_function GO:0015386 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015386 GO_process GO:0006811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006811 GO_process GO:0051453 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051453 GO_process GO:0071805 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071805 GO_process GO:0098719 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0098719 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC9A9 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC9A9 GeneID 285195 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=285195 GeneTree ENSGT00760000119074 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119074 HGNC HGNC:20653 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:20653 HOGENOM HOG000172307 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000172307&db=HOGENOM6 HOVERGEN HBG055575 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG055575&db=HOVERGEN HPA HPA058234 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA058234 InParanoid Q8IVB4 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8IVB4 IntAct Q8IVB4 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q8IVB4* InterPro IPR002090 http://www.ebi.ac.uk/interpro/entry/IPR002090 InterPro IPR004709 http://www.ebi.ac.uk/interpro/entry/IPR004709 InterPro IPR006153 http://www.ebi.ac.uk/interpro/entry/IPR006153 InterPro IPR018416 http://www.ebi.ac.uk/interpro/entry/IPR018416 InterPro IPR018422 http://www.ebi.ac.uk/interpro/entry/IPR018422 Jabion 285195 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=285195 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:285195 http://www.genome.jp/dbget-bin/www_bget?hsa:285195 KEGG_Orthology KO:K14725 http://www.genome.jp/dbget-bin/www_bget?KO:K14725 MIM 608396 http://www.ncbi.nlm.nih.gov/omim/608396 MIM 613410 http://www.ncbi.nlm.nih.gov/omim/613410 OMA NPHQGNA http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=NPHQGNA Orphanet 106 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=106 OrthoDB EOG091G0HN5 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0HN5 PANTHER PTHR10110 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10110 PANTHER PTHR10110:SF61 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10110:SF61 PRINTS PR01084 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01084 PRINTS PR01088 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01088 PSORT swissprot:SL9A9_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SL9A9_HUMAN PSORT-B swissprot:SL9A9_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SL9A9_HUMAN PSORT2 swissprot:SL9A9_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SL9A9_HUMAN Pfam PF00999 http://pfam.xfam.org/family/PF00999 PharmGKB PA134889062 http://www.pharmgkb.org/do/serve?objId=PA134889062&objCls=Gene Phobius swissprot:SL9A9_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SL9A9_HUMAN PhylomeDB Q8IVB4 http://phylomedb.org/?seqid=Q8IVB4 ProteinModelPortal Q8IVB4 http://www.proteinmodelportal.org/query/uniprot/Q8IVB4 PubMed 12880961 http://www.ncbi.nlm.nih.gov/pubmed/12880961 PubMed 14569117 http://www.ncbi.nlm.nih.gov/pubmed/14569117 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15522866 http://www.ncbi.nlm.nih.gov/pubmed/15522866 PubMed 16641997 http://www.ncbi.nlm.nih.gov/pubmed/16641997 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 PubMed 18621663 http://www.ncbi.nlm.nih.gov/pubmed/18621663 PubMed 19159218 http://www.ncbi.nlm.nih.gov/pubmed/19159218 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 Reactome R-HSA-425986 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-425986 RefSeq NP_775924 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_775924 SMR Q8IVB4 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q8IVB4 STRING 9606.ENSP00000320246 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000320246&targetmode=cogs TCDB 2.A.36.1.19 http://www.tcdb.org/search/result.php?tc=2.A.36.1.19 TIGRFAMs TIGR00840 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00840 UCSC uc003evn http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003evn&org=rat UniGene Hs.302257 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.302257 UniProtKB SL9A9_HUMAN http://www.uniprot.org/uniprot/SL9A9_HUMAN UniProtKB-AC Q8IVB4 http://www.uniprot.org/uniprot/Q8IVB4 charge swissprot:SL9A9_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SL9A9_HUMAN eggNOG COG0025 http://eggnogapi.embl.de/nog_data/html/tree/COG0025 eggNOG KOG1965 http://eggnogapi.embl.de/nog_data/html/tree/KOG1965 epestfind swissprot:SL9A9_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SL9A9_HUMAN garnier swissprot:SL9A9_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SL9A9_HUMAN helixturnhelix swissprot:SL9A9_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SL9A9_HUMAN hmoment swissprot:SL9A9_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SL9A9_HUMAN iep swissprot:SL9A9_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SL9A9_HUMAN inforesidue swissprot:SL9A9_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SL9A9_HUMAN neXtProt NX_Q8IVB4 http://www.nextprot.org/db/entry/NX_Q8IVB4 octanol swissprot:SL9A9_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SL9A9_HUMAN pepcoil swissprot:SL9A9_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SL9A9_HUMAN pepdigest swissprot:SL9A9_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SL9A9_HUMAN pepinfo swissprot:SL9A9_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SL9A9_HUMAN pepnet swissprot:SL9A9_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SL9A9_HUMAN pepstats swissprot:SL9A9_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SL9A9_HUMAN pepwheel swissprot:SL9A9_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SL9A9_HUMAN pepwindow swissprot:SL9A9_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SL9A9_HUMAN sigcleave swissprot:SL9A9_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SL9A9_HUMAN ## Database ID URL or Descriptions # CAUTION Could be the product of a pseudogene. {ECO 0000305}. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0005216 ion channel activity; IEA:InterPro. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # HGNC HGNC:31124 FXYD6P3 # InterPro IPR000272 Ion-transport_regulator_FXYD # Organism FXYD8_HUMAN Homo sapiens (Human) # PROSITE PS01310 FXYD # Pfam PF02038 ATP1G1_PLM_MAT8 # ProDom PD005989 PD005989 # Proteomes UP000005640 Unplaced # RecName FXYD8_HUMAN Putative FXYD domain-containing ion transport regulator 8 # SIMILARITY Belongs to the FXYD family. {ECO 0000305}. # SUBCELLULAR LOCATION FXYD8_HUMAN Membrane {ECO 0000305}; Single-pass type I membrane protein {ECO 0000305}. BLAST swissprot:FXYD8_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:FXYD8_HUMAN BioCyc ZFISH:G66-30904-MONOMER http://biocyc.org/getid?id=ZFISH:G66-30904-MONOMER DOI 10.1038/nature03440 http://dx.doi.org/10.1038/nature03440 EMBL AL353804 http://www.ebi.ac.uk/ena/data/view/AL353804 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005216 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005216 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GeneCards FXYD6P3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=FXYD6P3 HGNC HGNC:31124 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:31124 HOVERGEN HBG008212 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG008212&db=HOVERGEN HPA HPA041334 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA041334 InParanoid P58550 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P58550 InterPro IPR000272 http://www.ebi.ac.uk/interpro/entry/IPR000272 PROSITE PS01310 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS01310 PSORT swissprot:FXYD8_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:FXYD8_HUMAN PSORT-B swissprot:FXYD8_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:FXYD8_HUMAN PSORT2 swissprot:FXYD8_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:FXYD8_HUMAN Pfam PF02038 http://pfam.xfam.org/family/PF02038 Phobius swissprot:FXYD8_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:FXYD8_HUMAN PhylomeDB P58550 http://phylomedb.org/?seqid=P58550 ProteinModelPortal P58550 http://www.proteinmodelportal.org/query/uniprot/P58550 PubMed 15772651 http://www.ncbi.nlm.nih.gov/pubmed/15772651 SMR P58550 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P58550 UniProtKB FXYD8_HUMAN http://www.uniprot.org/uniprot/FXYD8_HUMAN UniProtKB-AC P58550 http://www.uniprot.org/uniprot/P58550 charge swissprot:FXYD8_HUMAN http://rest.g-language.org/emboss/charge/swissprot:FXYD8_HUMAN epestfind swissprot:FXYD8_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:FXYD8_HUMAN garnier swissprot:FXYD8_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:FXYD8_HUMAN helixturnhelix swissprot:FXYD8_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:FXYD8_HUMAN hmoment swissprot:FXYD8_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:FXYD8_HUMAN iep swissprot:FXYD8_HUMAN http://rest.g-language.org/emboss/iep/swissprot:FXYD8_HUMAN inforesidue swissprot:FXYD8_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:FXYD8_HUMAN neXtProt NX_P58550 http://www.nextprot.org/db/entry/NX_P58550 octanol swissprot:FXYD8_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:FXYD8_HUMAN pepcoil swissprot:FXYD8_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:FXYD8_HUMAN pepdigest swissprot:FXYD8_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:FXYD8_HUMAN pepinfo swissprot:FXYD8_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:FXYD8_HUMAN pepnet swissprot:FXYD8_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:FXYD8_HUMAN pepstats swissprot:FXYD8_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:FXYD8_HUMAN pepwheel swissprot:FXYD8_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:FXYD8_HUMAN pepwindow swissprot:FXYD8_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:FXYD8_HUMAN sigcleave swissprot:FXYD8_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:FXYD8_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS AT2A1_HUMAN Event=Alternative splicing; Named isoforms=3; Name=SERCA1B; Synonyms=ATP2A1B, Neonatal; IsoId=O14983-1; Sequence=Displayed; Name=SERCA1A; Synonyms=ATP2A1A, Adult; IsoId=O14983-2; Sequence=VSP_000355; Name=3; IsoId=O14983-3; Sequence=VSP_054770, VSP_000355; Note=No experimental confirmation available.; # AltName AT2A1_HUMAN Calcium pump 1 # AltName AT2A1_HUMAN Calcium-transporting ATPase sarcoplasmic reticulum type, fast twitch skeletal muscle isoform # AltName AT2A1_HUMAN Endoplasmic reticulum class 1/2 Ca(2+) ATPase # BioGrid 106977 17 # CATALYTIC ACTIVITY AT2A1_HUMAN ATP + H(2)O + Ca(2+)(Side 1) = ADP + phosphate + Ca(2+)(Side 2). # CCDS CCDS10643 -. [O14983-1] # CCDS CCDS42139 -. [O14983-2] # CCDS CCDS66997 -. [O14983-3] # DEVELOPMENTAL STAGE Isoform SERCA1A accounts for more than 99% of SERCA1 isoforms expressed in adult skeletal muscle, while isoform SERCA1B predominates in neo-natal skeletal muscle. {ECO:0000269|PubMed 8825625}. # DISEASE AT2A1_HUMAN Brody myopathy (BRM) [MIM 601003] A disorder of muscle function that is characterized by painless muscle cramping and exercise-induced impairment of muscle relaxation. {ECO 0000269|PubMed 10914677}. Note=The disease is caused by mutations affecting the gene represented in this entry. # ENZYME REGULATION AT2A1_HUMAN Inhibited by sarcolipin (SLN), phospholamban (PLN) and myoregulin (MRLN) (By similarity). Reversibly inhibited by phospholamban (PLN) at low calcium concentrations (By similarity). Dephosphorylated PLN decreases the apparent affinity of the ATPase for calcium. This inhibition is regulated by the phosphorylation of PLN (By similarity). Enhanced by DWORF; DWORF increases activity by displacing sarcolipin (SLN), phospholamban (PLN) and myoregulin (MRLN) (By similarity). {ECO 0000250|UniProtKB P04191, ECO 0000250|UniProtKB Q8R429}. # Ensembl ENST00000357084 ENSP00000349595; ENSG00000196296. [O14983-1] # Ensembl ENST00000395503 ENSP00000378879; ENSG00000196296. [O14983-2] # Ensembl ENST00000536376 ENSP00000443101; ENSG00000196296. [O14983-3] # ExpressionAtlas O14983 baseline and differential # FUNCTION AT2A1_HUMAN Key regulator of striated muscle performance by acting as the major Ca(2+) ATPase responsible for the reuptake of cytosolic Ca(2+) into the sarcoplasmic reticulum. Catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen. Contributes to calcium sequestration involved in muscular excitation/contraction. {ECO 0000250|UniProtKB Q8R429}. # GO_component GO:0005739 mitochondrion; IEA:GOC. # GO_component GO:0005789 endoplasmic reticulum membrane; IDA:UniProtKB. # GO_component GO:0005793 endoplasmic reticulum-Golgi intermediate compartment; ISS:UniProtKB. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0016020 membrane; ISS:UniProtKB. # GO_component GO:0016021 integral component of membrane; NAS:UniProtKB. # GO_component GO:0016529 sarcoplasmic reticulum; ISS:UniProtKB. # GO_component GO:0031095 platelet dense tubular network membrane; TAS:Reactome. # GO_component GO:0031673 H zone; IDA:UniProtKB. # GO_component GO:0031674 I band; IDA:UniProtKB. # GO_component GO:0033017 sarcoplasmic reticulum membrane; ISS:UniProtKB. # GO_component GO:0034704 calcium channel complex; IC:BHF-UCL. # GO_component GO:0048471 perinuclear region of cytoplasm; ISS:UniProtKB. # GO_function GO:0005388 calcium-transporting ATPase activity; IDA:UniProtKB. # GO_function GO:0005509 calcium ion binding; IMP:UniProtKB. # GO_function GO:0005524 ATP binding; ISS:UniProtKB. # GO_function GO:0042803 protein homodimerization activity; IPI:BHF-UCL. # GO_process GO:0006816 calcium ion transport; IDA:UniProtKB. # GO_process GO:0006942 regulation of striated muscle contraction; IMP:UniProtKB. # GO_process GO:0008637 apoptotic mitochondrial changes; IMP:BHF-UCL. # GO_process GO:0031448 positive regulation of fast-twitch skeletal muscle fiber contraction; IDA:UniProtKB. # GO_process GO:0032470 positive regulation of endoplasmic reticulum calcium ion concentration; IMP:BHF-UCL. # GO_process GO:0032471 negative regulation of endoplasmic reticulum calcium ion concentration; IMP:BHF-UCL. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0034976 response to endoplasmic reticulum stress; IMP:BHF-UCL. # GO_process GO:0045988 negative regulation of striated muscle contraction; IMP:UniProtKB. # GO_process GO:0051561 positive regulation of mitochondrial calcium ion concentration; IMP:BHF-UCL. # GO_process GO:0051659 maintenance of mitochondrion location; IMP:BHF-UCL. # GO_process GO:0070059 intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress; IMP:BHF-UCL. # GO_process GO:0070509 calcium ion import; IMP:BHF-UCL. # GO_process GO:0090076 relaxation of skeletal muscle; IDA:BHF-UCL. # GO_process GO:1903779 regulation of cardiac conduction; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005739 mitochondrion # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007005 mitochondrion organization # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.20.1110.10 -; 2. # Gene3D 2.70.150.10 -; 2. # Gene3D 3.40.1110.10 -; 1. # Genevisible O14983 HS # HGNC HGNC:811 ATP2A1 # INDUCTION Increased contractile activity leads to a decrease in SERCA1 expression, while decreased contractile activity leads to an increase in SERCA1 expression. {ECO:0000269|PubMed 8825625}. # IntAct O14983 5 # InterPro IPR001757 P_typ_ATPase # InterPro IPR004014 ATPase_P-typ_cation-transptr_N # InterPro IPR005782 P-type_ATPase_IIA # InterPro IPR006068 ATPase_P-typ_cation-transptr_C # InterPro IPR008250 ATPase_P-typ_transduc_dom_A # InterPro IPR018303 ATPase_P-typ_P_site # InterPro IPR023214 HAD-like_dom # InterPro IPR023298 ATPase_P-typ_TM_dom # InterPro IPR023299 ATPase_P-typ_cyto_domN # InterPro IPR030332 SERCA1 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko01000 Enzymes # KEGG_Disease H01129 [Musculoskeletal disease; Nervous system disease] Brody myopathy # KEGG_Pathway ko04020 Calcium signaling pathway # KEGG_Pathway ko04972 Pancreatic secretion # KEGG_Pathway ko05010 Alzheimer's disease # MIM 108730 gene # MIM 601003 phenotype # Organism AT2A1_HUMAN Homo sapiens (Human) # Orphanet 53347 Brody myopathy # PANTHER PTHR24093:SF335 PTHR24093:SF335; 2 # PRINTS PR00120 HATPASE # PROSITE PS00154 ATPASE_E1_E2 # Pfam PF00122 E1-E2_ATPase # Pfam PF00689 Cation_ATPase_C # Pfam PF00690 Cation_ATPase_N # Pfam PF08282 Hydrolase_3 # Proteomes UP000005640 Chromosome 16 # Reactome R-HSA-1912420 Pre-NOTCH Processing in Golgi # Reactome R-HSA-418359 Reduction of cytosolic Ca++ levels # Reactome R-HSA-5578775 Ion homeostasis # Reactome R-HSA-936837 Ion transport by P-type ATPases # RecName AT2A1_HUMAN Sarcoplasmic/endoplasmic reticulum calcium ATPase 1 # RefSeq NP_001273004 NM_001286075.1. [O14983-3] # RefSeq NP_004311 NM_004320.4. [O14983-2] # RefSeq NP_775293 NM_173201.3. [O14983-1] # SIMILARITY Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIA subfamily. {ECO 0000305}. # SMART SM00831 Cation_ATPase_N # SUBCELLULAR LOCATION AT2A1_HUMAN Endoplasmic reticulum membrane {ECO 0000250|UniProtKB P04191}; Multi-pass membrane protein {ECO 0000255}. Sarcoplasmic reticulum membrane {ECO 0000250|UniProtKB P04191}; Multi-pass membrane protein {ECO 0000255}. # SUBUNIT Interacts with sarcolipin (SLN) (By similarity). Interacts with phospholamban (PLN) (By similarity). Interacts with myoregulin (MRLN). Interacts with DWORF (By similarity). {ECO:0000250|UniProtKB Q8R429}. # SUPFAM SSF56784 SSF56784 # SUPFAM SSF81660 SSF81660 # TIGRFAMs TIGR01116 ATPase-IIA1_Ca # TIGRFAMs TIGR01494 ATPase_P-type; 2 # TISSUE SPECIFICITY Skeletal muscle, fast twitch muscle (type II) fibers. {ECO:0000269|PubMed 8825625}. # UCSC uc002drn human. [O14983-1] # eggNOG COG0474 LUCA # eggNOG KOG0202 Eukaryota BLAST swissprot:AT2A1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:AT2A1_HUMAN BioCyc ZFISH:HS11229-MONOMER http://biocyc.org/getid?id=ZFISH:HS11229-MONOMER COXPRESdb 487 http://coxpresdb.jp/data/gene/487.shtml CleanEx HS_ATP2A1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ATP2A1 DOI 10.1006/geno.1995.1259 http://dx.doi.org/10.1006/geno.1995.1259 DOI 10.1007/s004390000297 http://dx.doi.org/10.1007/s004390000297 DOI 10.1038/nature03187 http://dx.doi.org/10.1038/nature03187 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.M101229200 http://dx.doi.org/10.1074/jbc.M101229200 EC_number EC:3.6.3.8 http://www.genome.jp/dbget-bin/www_bget?EC:3.6.3.8 EMBL AC109460 http://www.ebi.ac.uk/ena/data/view/AC109460 EMBL AC133550 http://www.ebi.ac.uk/ena/data/view/AC133550 EMBL AK128456 http://www.ebi.ac.uk/ena/data/view/AK128456 EMBL AK291314 http://www.ebi.ac.uk/ena/data/view/AK291314 EMBL U96773 http://www.ebi.ac.uk/ena/data/view/U96773 EMBL U96773 http://www.ebi.ac.uk/ena/data/view/U96773 EMBL U96774 http://www.ebi.ac.uk/ena/data/view/U96774 EMBL U96774 http://www.ebi.ac.uk/ena/data/view/U96774 EMBL U96775 http://www.ebi.ac.uk/ena/data/view/U96775 EMBL U96775 http://www.ebi.ac.uk/ena/data/view/U96775 EMBL U96776 http://www.ebi.ac.uk/ena/data/view/U96776 EMBL U96776 http://www.ebi.ac.uk/ena/data/view/U96776 EMBL U96777 http://www.ebi.ac.uk/ena/data/view/U96777 EMBL U96777 http://www.ebi.ac.uk/ena/data/view/U96777 EMBL U96778 http://www.ebi.ac.uk/ena/data/view/U96778 EMBL U96778 http://www.ebi.ac.uk/ena/data/view/U96778 EMBL U96779 http://www.ebi.ac.uk/ena/data/view/U96779 EMBL U96779 http://www.ebi.ac.uk/ena/data/view/U96779 EMBL U96780 http://www.ebi.ac.uk/ena/data/view/U96780 EMBL U96780 http://www.ebi.ac.uk/ena/data/view/U96780 EMBL U96781 http://www.ebi.ac.uk/ena/data/view/U96781 EMBL U96781 http://www.ebi.ac.uk/ena/data/view/U96781 ENZYME 3.6.3.8 http://enzyme.expasy.org/EC/3.6.3.8 Ensembl ENST00000357084 http://www.ensembl.org/id/ENST00000357084 Ensembl ENST00000395503 http://www.ensembl.org/id/ENST00000395503 Ensembl ENST00000536376 http://www.ensembl.org/id/ENST00000536376 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005789 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005789 GO_component GO:0005793 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005793 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0016529 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016529 GO_component GO:0031095 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031095 GO_component GO:0031673 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031673 GO_component GO:0031674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031674 GO_component GO:0033017 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033017 GO_component GO:0034704 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034704 GO_component GO:0048471 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048471 GO_function GO:0005388 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005388 GO_function GO:0005509 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005509 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0042803 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042803 GO_process GO:0006816 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006816 GO_process GO:0006942 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006942 GO_process GO:0008637 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008637 GO_process GO:0031448 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031448 GO_process GO:0032470 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032470 GO_process GO:0032471 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032471 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0034976 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034976 GO_process GO:0045988 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045988 GO_process GO:0051561 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051561 GO_process GO:0051659 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051659 GO_process GO:0070059 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070059 GO_process GO:0070509 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070509 GO_process GO:0090076 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090076 GO_process GO:1903779 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903779 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007005 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007005 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.20.1110.10 http://www.cathdb.info/version/latest/superfamily/1.20.1110.10 Gene3D 2.70.150.10 http://www.cathdb.info/version/latest/superfamily/2.70.150.10 Gene3D 3.40.1110.10 http://www.cathdb.info/version/latest/superfamily/3.40.1110.10 GeneCards ATP2A1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ATP2A1 GeneID 487 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=487 GeneTree ENSGT00850000132256 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00850000132256 HGNC HGNC:811 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:811 HOGENOM HOG000265621 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000265621&db=HOGENOM6 HOVERGEN HBG105648 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG105648&db=HOVERGEN HPA CAB002310 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB002310 HPA CAB032706 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB032706 InParanoid O14983 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O14983 IntAct O14983 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O14983* IntEnz 3.6.3.8 http://www.ebi.ac.uk/intenz/query?cmd=Search&q=3.6.3.8 InterPro IPR001757 http://www.ebi.ac.uk/interpro/entry/IPR001757 InterPro IPR004014 http://www.ebi.ac.uk/interpro/entry/IPR004014 InterPro IPR005782 http://www.ebi.ac.uk/interpro/entry/IPR005782 InterPro IPR006068 http://www.ebi.ac.uk/interpro/entry/IPR006068 InterPro IPR008250 http://www.ebi.ac.uk/interpro/entry/IPR008250 InterPro IPR018303 http://www.ebi.ac.uk/interpro/entry/IPR018303 InterPro IPR023214 http://www.ebi.ac.uk/interpro/entry/IPR023214 InterPro IPR023298 http://www.ebi.ac.uk/interpro/entry/IPR023298 InterPro IPR023299 http://www.ebi.ac.uk/interpro/entry/IPR023299 InterPro IPR030332 http://www.ebi.ac.uk/interpro/entry/IPR030332 Jabion 487 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=487 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Disease H01129 http://www.genome.jp/dbget-bin/www_bget?H01129 KEGG_Gene hsa:487 http://www.genome.jp/dbget-bin/www_bget?hsa:487 KEGG_Orthology KO:K05853 http://www.genome.jp/dbget-bin/www_bget?KO:K05853 KEGG_Pathway ko04020 http://www.genome.jp/kegg-bin/show_pathway?ko04020 KEGG_Pathway ko04972 http://www.genome.jp/kegg-bin/show_pathway?ko04972 KEGG_Pathway ko05010 http://www.genome.jp/kegg-bin/show_pathway?ko05010 MIM 108730 http://www.ncbi.nlm.nih.gov/omim/108730 MIM 601003 http://www.ncbi.nlm.nih.gov/omim/601003 MINT MINT-1158140 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1158140 OMA LAHWLMV http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=LAHWLMV Orphanet 53347 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=53347 OrthoDB EOG091G01LE http://cegg.unige.ch/orthodb/results?searchtext=EOG091G01LE PANTHER PTHR24093:SF335 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24093:SF335 PRINTS PR00120 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00120 PROSITE PS00154 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00154 PSORT swissprot:AT2A1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:AT2A1_HUMAN PSORT-B swissprot:AT2A1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:AT2A1_HUMAN PSORT2 swissprot:AT2A1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:AT2A1_HUMAN Pfam PF00122 http://pfam.xfam.org/family/PF00122 Pfam PF00689 http://pfam.xfam.org/family/PF00689 Pfam PF00690 http://pfam.xfam.org/family/PF00690 Pfam PF08282 http://pfam.xfam.org/family/PF08282 PharmGKB PA25105 http://www.pharmgkb.org/do/serve?objId=PA25105&objCls=Gene Phobius swissprot:AT2A1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:AT2A1_HUMAN PhylomeDB O14983 http://phylomedb.org/?seqid=O14983 ProteinModelPortal O14983 http://www.proteinmodelportal.org/query/uniprot/O14983 PubMed 10914677 http://www.ncbi.nlm.nih.gov/pubmed/10914677 PubMed 11438520 http://www.ncbi.nlm.nih.gov/pubmed/11438520 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15616553 http://www.ncbi.nlm.nih.gov/pubmed/15616553 PubMed 8825625 http://www.ncbi.nlm.nih.gov/pubmed/8825625 Reactome R-HSA-1912420 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1912420 Reactome R-HSA-418359 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-418359 Reactome R-HSA-5578775 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5578775 Reactome R-HSA-936837 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-936837 RefSeq NP_001273004 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001273004 RefSeq NP_004311 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004311 RefSeq NP_775293 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_775293 SMART SM00831 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00831 SMR O14983 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=O14983 STRING 9606.ENSP00000349595 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000349595&targetmode=cogs SUPFAM SSF56784 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF56784 SUPFAM SSF81660 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81660 TIGRFAMs TIGR01116 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01116 TIGRFAMs TIGR01494 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01494 UCSC uc002drn http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002drn&org=rat UniGene Hs.657344 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.657344 UniProtKB AT2A1_HUMAN http://www.uniprot.org/uniprot/AT2A1_HUMAN UniProtKB-AC O14983 http://www.uniprot.org/uniprot/O14983 charge swissprot:AT2A1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:AT2A1_HUMAN eggNOG COG0474 http://eggnogapi.embl.de/nog_data/html/tree/COG0474 eggNOG KOG0202 http://eggnogapi.embl.de/nog_data/html/tree/KOG0202 epestfind swissprot:AT2A1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:AT2A1_HUMAN garnier swissprot:AT2A1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:AT2A1_HUMAN helixturnhelix swissprot:AT2A1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:AT2A1_HUMAN hmoment swissprot:AT2A1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:AT2A1_HUMAN iep swissprot:AT2A1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:AT2A1_HUMAN inforesidue swissprot:AT2A1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:AT2A1_HUMAN neXtProt NX_O14983 http://www.nextprot.org/db/entry/NX_O14983 octanol swissprot:AT2A1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:AT2A1_HUMAN pepcoil swissprot:AT2A1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:AT2A1_HUMAN pepdigest swissprot:AT2A1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:AT2A1_HUMAN pepinfo swissprot:AT2A1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:AT2A1_HUMAN pepnet swissprot:AT2A1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:AT2A1_HUMAN pepstats swissprot:AT2A1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:AT2A1_HUMAN pepwheel swissprot:AT2A1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:AT2A1_HUMAN pepwindow swissprot:AT2A1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:AT2A1_HUMAN sigcleave swissprot:AT2A1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:AT2A1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS USO1_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O60763-1; Sequence=Displayed; Name=2; IsoId=O60763-2; Sequence=VSP_039120, VSP_039121; # AltName USO1_HUMAN Protein USO1 homolog # AltName USO1_HUMAN Transcytosis-associated protein # AltName USO1_HUMAN Vesicle-docking protein # BioGrid 114173 67 # CCDS CCDS75144 -. [O60763-1] # CCDS CCDS77929 -. [O60763-2] # ChiTaRS USO1 human # DOMAIN USO1_HUMAN Composed of a globular head, an elongated tail (coiled- coil) and a highly acidic C-terminal domain. {ECO 0000269|PubMed 19247479}. # Ensembl ENST00000264904 ENSP00000264904; ENSG00000138768. [O60763-2] # Ensembl ENST00000514213 ENSP00000444850; ENSG00000138768. [O60763-1] # ExpressionAtlas O60763 baseline and differential # FUNCTION USO1_HUMAN General vesicular transport factor required for intercisternal transport in the Golgi stack; it is required for transcytotic fusion and/or subsequent binding of the vesicles to the target membrane. May well act as a vesicular anchor by interacting with the target membrane and holding the vesicular and target membranes in proximity. {ECO 0000250|UniProtKB P41542}. # GO_component GO:0000139 Golgi membrane; TAS:Reactome. # GO_component GO:0005730 nucleolus; IDA:HPA. # GO_component GO:0005783 endoplasmic reticulum; IBA:GO_Central. # GO_component GO:0005794 Golgi apparatus; IDA:HPA. # GO_component GO:0005795 Golgi stack; IBA:GO_Central. # GO_component GO:0005829 cytosol; TAS:Reactome. # GO_component GO:0005913 cell-cell adherens junction; IDA:BHF-UCL. # GO_component GO:0012507 ER to Golgi transport vesicle membrane; IBA:GO_Central. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0030133 transport vesicle; TAS:Reactome. # GO_component GO:0048471 perinuclear region of cytoplasm; IEA:Ensembl. # GO_function GO:0008565 protein transporter activity; IBA:GO_Central. # GO_function GO:0044822 poly(A) RNA binding; IDA:UniProtKB. # GO_function GO:0098641 cadherin binding involved in cell-cell adhesion; IDA:BHF-UCL. # GO_process GO:0006886 intracellular protein transport; IBA:GO_Central. # GO_process GO:0006888 ER to Golgi vesicle-mediated transport; ISS:UniProtKB. # GO_process GO:0007030 Golgi organization; IEA:Ensembl. # GO_process GO:0045056 transcytosis; IBA:GO_Central. # GO_process GO:0048208 COPII vesicle coating; TAS:Reactome. # GO_process GO:0048211 Golgi vesicle docking; IBA:GO_Central. # GO_process GO:0048280 vesicle fusion with Golgi apparatus; IEA:InterPro. # GO_process GO:0061025 membrane fusion; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005730 nucleolus # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_component GO:0005794 Golgi apparatus # GOslim_component GO:0005829 cytosol # GOslim_component GO:0031410 cytoplasmic vesicle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0003723 RNA binding # GOslim_function GO:0008565 protein transporter activity # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0016192 vesicle-mediated transport # GOslim_process GO:0061024 membrane organization # Genevisible O60763 HS # HGNC HGNC:30904 USO1 # INTERACTION USO1_HUMAN Q99996-2 AKAP9; NbExp=3; IntAct=EBI-356164, EBI-9641546; Q9UNI6 DUSP12; NbExp=3; IntAct=EBI-356164, EBI-715161; Q8IUZ5 PHYKPL; NbExp=3; IntAct=EBI-356164, EBI-751947; Q9UIA9 XPO7; NbExp=3; IntAct=EBI-356164, EBI-286668; # IntAct O60763 25 # InterPro IPR000225 Armadillo # InterPro IPR006953 Vesicle_Uso1_P115_head # InterPro IPR006955 Uso1_p115_C # InterPro IPR016024 ARM-type_fold # InterPro IPR024095 Vesicle_P115-like # MIM 603344 gene # Organism USO1_HUMAN Homo sapiens (Human) # PANTHER PTHR10013 PTHR10013 # PDB 2W3C X-ray; 2.22 A; A=53-629 # PROSITE PS50176 ARM_REPEAT # PTM USO1_HUMAN Phosphorylated in a cell cycle-specific manner; phosphorylated in interphase but not in mitotic cells. Dephosphorylated protein associates with the Golgi membrane; phosphorylation promotes dissociation. {ECO 0000269|PubMed 9478999}. # Pfam PF04869 Uso1_p115_head # Pfam PF04871 Uso1_p115_C # Proteomes UP000005640 Chromosome 4 # Reactome R-HSA-162658 Golgi Cisternae Pericentriolar Stack Reorganization # Reactome R-HSA-204005 COPII (Coat Protein 2) Mediated Vesicle Transport # Reactome R-HSA-6807878 COPI-mediated anterograde transport # RecName USO1_HUMAN General vesicular transport factor p115 # RefSeq NP_001276978 NM_001290049.1. [O60763-2] # RefSeq NP_003706 NM_003715.3. [O60763-1] # SEQUENCE CAUTION Sequence=AAH06398.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the VDP/USO1/EDE1 family. {ECO 0000305}. # SIMILARITY Contains 12 ARM repeats. {ECO:0000255|PROSITE- ProRule PRU00259}. # SMART SM00185 ARM; 3 # SUBCELLULAR LOCATION USO1_HUMAN Cytoplasm, cytosol {ECO 0000269|PubMed 19454686, ECO 0000269|PubMed 9478999}. Golgi apparatus membrane {ECO 0000269|PubMed 19454686, ECO 0000269|PubMed 9478999}; Peripheral membrane protein {ECO 0000269|PubMed 19454686, ECO 0000269|PubMed 9478999}. Note=Recycles between the cytosol and the Golgi apparatus during interphase. During interphase, the phosphorylated form is found exclusively in cytosol; the unphosphorylated form is associated with Golgi apparatus membranes. {ECO 0000269|PubMed 19454686, ECO 0000269|PubMed 9478999}. # SUBUNIT USO1_HUMAN Homodimer. Dimerizes by parallel association of the tails, resulting in an elongated structure with two globular head domains side by side, and a long rod-like tail structure (Probable). Interacts with MIF. {ECO 0000269|PubMed 19247479, ECO 0000269|PubMed 19454686, ECO 0000305}. # SUPFAM SSF48371 SSF48371 # UCSC uc003hiv human. [O60763-1] BLAST swissprot:USO1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:USO1_HUMAN BioCyc ZFISH:ENSG00000138768-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000138768-MONOMER COXPRESdb 8615 http://coxpresdb.jp/data/gene/8615.shtml CleanEx HS_USO1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_USO1 DOI 10.1002/pmic.200700884 http://dx.doi.org/10.1002/pmic.200700884 DOI 10.1016/j.cell.2006.09.026 http://dx.doi.org/10.1016/j.cell.2006.09.026 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/ac9004309 http://dx.doi.org/10.1021/ac9004309 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1074/jbc.273.9.5385 http://dx.doi.org/10.1074/jbc.273.9.5385 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1175371 http://dx.doi.org/10.1126/science.1175371 DOI 10.1126/scisignal.2000007 http://dx.doi.org/10.1126/scisignal.2000007 DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 DOI 10.1126/scisignal.2001570 http://dx.doi.org/10.1126/scisignal.2001570 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DOI 10.1371/journal.pone.0004656 http://dx.doi.org/10.1371/journal.pone.0004656 DOI 10.4049/jimmunol.0803710 http://dx.doi.org/10.4049/jimmunol.0803710 EMBL AC104828 http://www.ebi.ac.uk/ena/data/view/AC104828 EMBL AC110615 http://www.ebi.ac.uk/ena/data/view/AC110615 EMBL AK314289 http://www.ebi.ac.uk/ena/data/view/AK314289 EMBL AL832010 http://www.ebi.ac.uk/ena/data/view/AL832010 EMBL BC006398 http://www.ebi.ac.uk/ena/data/view/BC006398 EMBL BC032654 http://www.ebi.ac.uk/ena/data/view/BC032654 EMBL D86326 http://www.ebi.ac.uk/ena/data/view/D86326 Ensembl ENST00000264904 http://www.ensembl.org/id/ENST00000264904 Ensembl ENST00000514213 http://www.ensembl.org/id/ENST00000514213 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000139 GO_component GO:0005730 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005730 GO_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GO_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GO_component GO:0005795 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005795 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0005913 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005913 GO_component GO:0012507 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0012507 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0030133 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030133 GO_component GO:0048471 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048471 GO_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GO_function GO:0044822 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044822 GO_function GO:0098641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0098641 GO_process GO:0006886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006886 GO_process GO:0006888 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006888 GO_process GO:0007030 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007030 GO_process GO:0045056 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045056 GO_process GO:0048208 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048208 GO_process GO:0048211 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048211 GO_process GO:0048280 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048280 GO_process GO:0061025 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061025 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005730 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005730 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0031410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0003723 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003723 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0016192 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016192 GOslim_process GO:0061024 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061024 GeneCards USO1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=USO1 GeneID 8615 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=8615 GeneTree ENSGT00390000017018 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000017018 HGNC HGNC:30904 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:30904 HOGENOM HOG000016409 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000016409&db=HOGENOM6 HOVERGEN HBG018067 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG018067&db=HOVERGEN HPA CAB010108 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB010108 HPA HPA038282 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA038282 HPA HPA038283 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA038283 InParanoid O60763 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O60763 IntAct O60763 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O60763* InterPro IPR000225 http://www.ebi.ac.uk/interpro/entry/IPR000225 InterPro IPR006953 http://www.ebi.ac.uk/interpro/entry/IPR006953 InterPro IPR006955 http://www.ebi.ac.uk/interpro/entry/IPR006955 InterPro IPR016024 http://www.ebi.ac.uk/interpro/entry/IPR016024 InterPro IPR024095 http://www.ebi.ac.uk/interpro/entry/IPR024095 Jabion 8615 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=8615 KEGG_Gene hsa:8615 http://www.genome.jp/dbget-bin/www_bget?hsa:8615 MIM 603344 http://www.ncbi.nlm.nih.gov/omim/603344 MINT MINT-1136055 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1136055 OMA GYQVNQD http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=GYQVNQD OrthoDB EOG091G046H http://cegg.unige.ch/orthodb/results?searchtext=EOG091G046H PANTHER PTHR10013 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10013 PDB 2W3C http://www.ebi.ac.uk/pdbe-srv/view/entry/2W3C PDBsum 2W3C http://www.ebi.ac.uk/pdbsum/2W3C PROSITE PS50176 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50176 PSORT swissprot:USO1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:USO1_HUMAN PSORT-B swissprot:USO1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:USO1_HUMAN PSORT2 swissprot:USO1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:USO1_HUMAN Pfam PF04869 http://pfam.xfam.org/family/PF04869 Pfam PF04871 http://pfam.xfam.org/family/PF04871 PharmGKB PA162408713 http://www.pharmgkb.org/do/serve?objId=PA162408713&objCls=Gene Phobius swissprot:USO1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:USO1_HUMAN PhylomeDB O60763 http://phylomedb.org/?seqid=O60763 ProteinModelPortal O60763 http://www.proteinmodelportal.org/query/uniprot/O60763 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 PubMed 17081983 http://www.ncbi.nlm.nih.gov/pubmed/17081983 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 PubMed 18318008 http://www.ncbi.nlm.nih.gov/pubmed/18318008 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 19247479 http://www.ncbi.nlm.nih.gov/pubmed/19247479 PubMed 19413330 http://www.ncbi.nlm.nih.gov/pubmed/19413330 PubMed 19454686 http://www.ncbi.nlm.nih.gov/pubmed/19454686 PubMed 19608861 http://www.ncbi.nlm.nih.gov/pubmed/19608861 PubMed 19690332 http://www.ncbi.nlm.nih.gov/pubmed/19690332 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 21406692 http://www.ncbi.nlm.nih.gov/pubmed/21406692 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 9478999 http://www.ncbi.nlm.nih.gov/pubmed/9478999 Reactome R-HSA-162658 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-162658 Reactome R-HSA-204005 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-204005 Reactome R-HSA-6807878 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6807878 RefSeq NP_001276978 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001276978 RefSeq NP_003706 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_003706 SMART SM00185 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00185 SMR O60763 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=O60763 SUPFAM SSF48371 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48371 UCSC uc003hiv http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003hiv&org=rat UniGene Hs.744877 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.744877 UniProtKB USO1_HUMAN http://www.uniprot.org/uniprot/USO1_HUMAN UniProtKB-AC O60763 http://www.uniprot.org/uniprot/O60763 charge swissprot:USO1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:USO1_HUMAN epestfind swissprot:USO1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:USO1_HUMAN garnier swissprot:USO1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:USO1_HUMAN helixturnhelix swissprot:USO1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:USO1_HUMAN hmoment swissprot:USO1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:USO1_HUMAN iep swissprot:USO1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:USO1_HUMAN inforesidue swissprot:USO1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:USO1_HUMAN neXtProt NX_O60763 http://www.nextprot.org/db/entry/NX_O60763 octanol swissprot:USO1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:USO1_HUMAN pepcoil swissprot:USO1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:USO1_HUMAN pepdigest swissprot:USO1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:USO1_HUMAN pepinfo swissprot:USO1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:USO1_HUMAN pepnet swissprot:USO1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:USO1_HUMAN pepstats swissprot:USO1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:USO1_HUMAN pepwheel swissprot:USO1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:USO1_HUMAN pepwindow swissprot:USO1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:USO1_HUMAN sigcleave swissprot:USO1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:USO1_HUMAN ## Database ID URL or Descriptions # AltName S19A3_HUMAN Solute carrier family 19 member 3 # BioGrid 123266 5 # ChiTaRS SLC19A3 human # DISEASE S19A3_HUMAN Thiamine metabolism dysfunction syndrome 2, biotin- or thiamine-responsive type (THMD2) [MIM 607483] An autosomal recessive metabolic disorder characterized by episodic encephalopathy, often triggered by febrile illness, presenting as confusion, seizures, external ophthalmoplegia, dysphagia, and sometimes coma and death. If untreated, encephalopathies can result in permanent dystonia. Brain imaging may show characteristic bilateral lesions of the basal ganglia. {ECO 0000269|PubMed 15871139}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DrugBank DB00151 L-Cysteine # Ensembl ENST00000258403 ENSP00000258403; ENSG00000135917 # Ensembl ENST00000425817 ENSP00000397393; ENSG00000135917 # ExpressionAtlas Q9BZV2 baseline and differential # FUNCTION S19A3_HUMAN Mediates high affinity thiamine uptake, probably via a proton anti-port mechanism. Has no folate transport activity. {ECO 0000269|PubMed 11731220}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0016021 integral component of membrane; NAS:UniProtKB. # GO_function GO:0015234 thiamine transmembrane transporter activity; TAS:Reactome. # GO_function GO:0015403 thiamine uptake transmembrane transporter activity; ISS:BHF-UCL. # GO_process GO:0042723 thiamine-containing compound metabolic process; TAS:Reactome. # GO_process GO:0071934 thiamine transmembrane transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006790 sulfur compound metabolic process # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0044281 small molecule metabolic process # GOslim_process GO:0055085 transmembrane transport # Genevisible Q9BZV2 HS # HGNC HGNC:16266 SLC19A3 # IntAct Q9BZV2 4 # InterPro IPR002666 Folate_carrier # InterPro IPR020846 MFS_dom # InterPro IPR028337 ThTr-2 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02001 Solute carrier family # KEGG_Disease H01231 [Inherited metabolic disease] Biotin-responsive basal ganglia disease (BBGD) # KEGG_Pathway ko04977 Vitamin digestion and absorption # MIM 606152 gene # MIM 607483 phenotype # Organism S19A3_HUMAN Homo sapiens (Human) # Orphanet 199348 Thiamine-responsive encephalopathy # Orphanet 255241 Leigh syndrome with leukodystrophy # Orphanet 263410 Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease # Orphanet 65284 Biotin-responsive basal ganglia disease # PANTHER PTHR10686 PTHR10686 # PIRSF PIRSF028739 Folate_carrier # PIRSF PIRSF500795 Thiamine_transporter_2 # Pfam PF01770 Folate_carrier # Proteomes UP000005640 Chromosome 2 # Reactome R-HSA-196819 Vitamin B1 (thiamin) metabolism # RecName S19A3_HUMAN Thiamine transporter 2 # RefSeq NP_079519 NM_025243.3 # RefSeq XP_011510234 XM_011511932.1 # RefSeq XP_011510235 XM_011511933.1 # SIMILARITY Belongs to the reduced folate carrier (RFC) transporter (TC 2.A.48) family. {ECO 0000305}. # SUBCELLULAR LOCATION S19A3_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # SUPFAM SSF103473 SSF103473; 2 # TCDB 2.A.48.1 the reduced folate carrier (rfc) family # TIGRFAMs TIGR00806 rfc # TISSUE SPECIFICITY S19A3_HUMAN Widely expressed but most abundant in placenta, kidney and liver. {ECO 0000269|PubMed 11136550, ECO 0000269|PubMed 15871139}. # UCSC uc002vpi human # eggNOG ENOG410XT34 LUCA # eggNOG KOG3810 Eukaryota BLAST swissprot:S19A3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S19A3_HUMAN BioCyc ZFISH:ENSG00000135917-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000135917-MONOMER COXPRESdb 80704 http://coxpresdb.jp/data/gene/80704.shtml CleanEx HS_SLC19A3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC19A3 DOI 10.1006/mgme.2000.3112 http://dx.doi.org/10.1006/mgme.2000.3112 DOI 10.1007/s00424-003-1068-1 http://dx.doi.org/10.1007/s00424-003-1068-1 DOI 10.1016/S0925-4439(01)00073-4 http://dx.doi.org/10.1016/S0925-4439(01)00073-4 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/pr8008012 http://dx.doi.org/10.1021/pr8008012 DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1086/431216 http://dx.doi.org/10.1086/431216 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DrugBank DB00151 http://www.drugbank.ca/drugs/DB00151 EMBL AC064853 http://www.ebi.ac.uk/ena/data/view/AC064853 EMBL AF271633 http://www.ebi.ac.uk/ena/data/view/AF271633 EMBL AF283317 http://www.ebi.ac.uk/ena/data/view/AF283317 EMBL BC032014 http://www.ebi.ac.uk/ena/data/view/BC032014 Ensembl ENST00000258403 http://www.ensembl.org/id/ENST00000258403 Ensembl ENST00000425817 http://www.ensembl.org/id/ENST00000425817 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0015234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015234 GO_function GO:0015403 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015403 GO_process GO:0042723 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042723 GO_process GO:0071934 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071934 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006790 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006790 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC19A3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC19A3 GeneID 80704 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=80704 GeneTree ENSGT00510000046382 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00510000046382 HGNC HGNC:16266 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:16266 HOGENOM HOG000001583 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000001583&db=HOGENOM6 HOVERGEN HBG054198 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG054198&db=HOVERGEN HPA HPA038898 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA038898 InParanoid Q9BZV2 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9BZV2 IntAct Q9BZV2 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9BZV2* InterPro IPR002666 http://www.ebi.ac.uk/interpro/entry/IPR002666 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 InterPro IPR028337 http://www.ebi.ac.uk/interpro/entry/IPR028337 Jabion 80704 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=80704 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Disease H01231 http://www.genome.jp/dbget-bin/www_bget?H01231 KEGG_Gene hsa:80704 http://www.genome.jp/dbget-bin/www_bget?hsa:80704 KEGG_Orthology KO:K14610 http://www.genome.jp/dbget-bin/www_bget?KO:K14610 KEGG_Pathway ko04977 http://www.genome.jp/kegg-bin/show_pathway?ko04977 MIM 606152 http://www.ncbi.nlm.nih.gov/omim/606152 MIM 607483 http://www.ncbi.nlm.nih.gov/omim/607483 MINT MINT-5006585 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-5006585 OMA MYIIYST http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=MYIIYST Orphanet 199348 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=199348 Orphanet 255241 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=255241 Orphanet 263410 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=263410 Orphanet 65284 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=65284 OrthoDB EOG091G0BSJ http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0BSJ PANTHER PTHR10686 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10686 PSORT swissprot:S19A3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S19A3_HUMAN PSORT-B swissprot:S19A3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S19A3_HUMAN PSORT2 swissprot:S19A3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S19A3_HUMAN Pfam PF01770 http://pfam.xfam.org/family/PF01770 PharmGKB PA38397 http://www.pharmgkb.org/do/serve?objId=PA38397&objCls=Gene Phobius swissprot:S19A3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S19A3_HUMAN PhylomeDB Q9BZV2 http://phylomedb.org/?seqid=Q9BZV2 ProteinModelPortal Q9BZV2 http://www.proteinmodelportal.org/query/uniprot/Q9BZV2 PubMed 11136550 http://www.ncbi.nlm.nih.gov/pubmed/11136550 PubMed 11731220 http://www.ncbi.nlm.nih.gov/pubmed/11731220 PubMed 14770311 http://www.ncbi.nlm.nih.gov/pubmed/14770311 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 PubMed 15871139 http://www.ncbi.nlm.nih.gov/pubmed/15871139 PubMed 19159218 http://www.ncbi.nlm.nih.gov/pubmed/19159218 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 Reactome R-HSA-196819 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-196819 RefSeq NP_079519 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_079519 RefSeq XP_011510234 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011510234 RefSeq XP_011510235 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011510235 STRING 9606.ENSP00000258403 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000258403&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.48.1 http://www.tcdb.org/search/result.php?tc=2.A.48.1 TIGRFAMs TIGR00806 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00806 UCSC uc002vpi http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002vpi&org=rat UniGene Hs.221597 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.221597 UniProtKB S19A3_HUMAN http://www.uniprot.org/uniprot/S19A3_HUMAN UniProtKB-AC Q9BZV2 http://www.uniprot.org/uniprot/Q9BZV2 charge swissprot:S19A3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S19A3_HUMAN eggNOG ENOG410XT34 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XT34 eggNOG KOG3810 http://eggnogapi.embl.de/nog_data/html/tree/KOG3810 epestfind swissprot:S19A3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S19A3_HUMAN garnier swissprot:S19A3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S19A3_HUMAN helixturnhelix swissprot:S19A3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S19A3_HUMAN hmoment swissprot:S19A3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S19A3_HUMAN iep swissprot:S19A3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S19A3_HUMAN inforesidue swissprot:S19A3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S19A3_HUMAN neXtProt NX_Q9BZV2 http://www.nextprot.org/db/entry/NX_Q9BZV2 octanol swissprot:S19A3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S19A3_HUMAN pepcoil swissprot:S19A3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S19A3_HUMAN pepdigest swissprot:S19A3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S19A3_HUMAN pepinfo swissprot:S19A3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S19A3_HUMAN pepnet swissprot:S19A3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S19A3_HUMAN pepstats swissprot:S19A3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S19A3_HUMAN pepwheel swissprot:S19A3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S19A3_HUMAN pepwindow swissprot:S19A3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S19A3_HUMAN sigcleave swissprot:S19A3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S19A3_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS XPO6_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96QU8-1; Sequence=Displayed; Name=2; IsoId=Q96QU8-2; Sequence=VSP_055756; # AltName XPO6_HUMAN Ran-binding protein 20 # BioGrid 116821 39 # CCDS CCDS42135 -. [Q96QU8-1] # CCDS CCDS59266 -. [Q96QU8-2] # ChiTaRS XPO6 human # Ensembl ENST00000304658 ENSP00000302790; ENSG00000169180. [Q96QU8-1] # Ensembl ENST00000565698 ENSP00000457341; ENSG00000169180. [Q96QU8-2] # ExpressionAtlas Q96QU8 baseline and differential # FUNCTION XPO6_HUMAN Mediates the nuclear export of actin and profilin-actin complexes in somatic cells. {ECO 0000269|PubMed 14592989}. # GO_component GO:0005634 nucleus; IC:UniProtKB. # GO_component GO:0005730 nucleolus; IDA:HPA. # GO_component GO:0005737 cytoplasm; IC:UniProtKB. # GO_component GO:0005886 plasma membrane; IDA:HPA. # GO_function GO:0008565 protein transporter activity; IDA:UniProtKB. # GO_process GO:0006611 protein export from nucleus; IDA:UniProtKB. # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005730 nucleolus # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0008565 protein transporter activity # GOslim_process GO:0006913 nucleocytoplasmic transport # Gene3D 1.25.10.10 -; 6. # Genevisible Q96QU8 HS # HGNC HGNC:19733 XPO6 # INTERACTION XPO6_HUMAN P37198 NUP62; NbExp=3; IntAct=EBI-10293124, EBI-347978; # IntAct Q96QU8 4 # InterPro IPR001494 Importin-beta_N # InterPro IPR011989 ARM-like # InterPro IPR013598 Exportin-1/Importin-b-like # InterPro IPR016024 ARM-type_fold # MIM 608411 gene # Organism XPO6_HUMAN Homo sapiens (Human) # PROSITE PS50166 IMPORTIN_B_NT # Pfam PF03810 IBN_N # Pfam PF08389 Xpo1 # Proteomes UP000005640 Chromosome 16 # RecName XPO6_HUMAN Exportin-6 # RefSeq NP_001257869 NM_001270940.1. [Q96QU8-2] # RefSeq NP_055986 NM_015171.3. [Q96QU8-1] # SEQUENCE CAUTION Sequence=BAA20825.3; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the exportin family. {ECO 0000305}. # SIMILARITY Contains 1 importin N-terminal domain. {ECO:0000255|PROSITE-ProRule PRU00115}. # SMART SM00913 IBN_N # SUBCELLULAR LOCATION XPO6_HUMAN Nucleus. Cytoplasm. Note=Shuttles between the nucleus and the cytoplasm. # SUBUNIT Found in a complex with XPO6, Ran, ACTB and PFN1. Interacts with ACTB. Interacts with ACTB in a RanGTP-dependent manner. {ECO:0000269|PubMed 14592989}. # SUPFAM SSF48371 SSF48371; 6 # UCSC uc002dpa human. [Q96QU8-1] # eggNOG COG5101 LUCA # eggNOG KOG2020 Eukaryota BLAST swissprot:XPO6_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:XPO6_HUMAN COXPRESdb 23214 http://coxpresdb.jp/data/gene/23214.shtml CleanEx HS_XPO6 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_XPO6 DOI 10.1016/j.molcel.2008.07.007 http://dx.doi.org/10.1016/j.molcel.2008.07.007 DOI 10.1021/ac9004309 http://dx.doi.org/10.1021/ac9004309 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature03187 http://dx.doi.org/10.1038/nature03187 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1073/pnas.1210303109 http://dx.doi.org/10.1073/pnas.1210303109 DOI 10.1074/mcp.M111.015131 http://dx.doi.org/10.1074/mcp.M111.015131 DOI 10.1093/dnares/4.2.141 http://dx.doi.org/10.1093/dnares/4.2.141 DOI 10.1093/dnares/9.3.99 http://dx.doi.org/10.1093/dnares/9.3.99 DOI 10.1093/emboj/cdg565 http://dx.doi.org/10.1093/emboj/cdg565 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/scisignal.2000007 http://dx.doi.org/10.1126/scisignal.2000007 DOI 10.1126/scisignal.2001570 http://dx.doi.org/10.1126/scisignal.2001570 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AB002368 http://www.ebi.ac.uk/ena/data/view/AB002368 EMBL AC136611 http://www.ebi.ac.uk/ena/data/view/AC136611 EMBL AK123846 http://www.ebi.ac.uk/ena/data/view/AK123846 EMBL AK223043 http://www.ebi.ac.uk/ena/data/view/AK223043 EMBL AY026388 http://www.ebi.ac.uk/ena/data/view/AY026388 EMBL BC004403 http://www.ebi.ac.uk/ena/data/view/BC004403 EMBL BC014071 http://www.ebi.ac.uk/ena/data/view/BC014071 EMBL BC078674 http://www.ebi.ac.uk/ena/data/view/BC078674 EMBL BC108286 http://www.ebi.ac.uk/ena/data/view/BC108286 EMBL BC130304 http://www.ebi.ac.uk/ena/data/view/BC130304 EMBL CH471145 http://www.ebi.ac.uk/ena/data/view/CH471145 EMBL CH471145 http://www.ebi.ac.uk/ena/data/view/CH471145 EMBL CH471145 http://www.ebi.ac.uk/ena/data/view/CH471145 Ensembl ENST00000304658 http://www.ensembl.org/id/ENST00000304658 Ensembl ENST00000565698 http://www.ensembl.org/id/ENST00000565698 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005730 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005730 GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GO_process GO:0006611 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006611 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_component GO:0005730 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005730 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_process GO:0006913 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006913 Gene3D 1.25.10.10 http://www.cathdb.info/version/latest/superfamily/1.25.10.10 GeneCards XPO6 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=XPO6 GeneID 23214 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=23214 GeneTree ENSGT00390000002810 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000002810 HGNC HGNC:19733 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:19733 HOVERGEN HBG054104 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG054104&db=HOVERGEN HPA HPA038246 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA038246 InParanoid Q96QU8 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q96QU8 IntAct Q96QU8 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q96QU8* InterPro IPR001494 http://www.ebi.ac.uk/interpro/entry/IPR001494 InterPro IPR011989 http://www.ebi.ac.uk/interpro/entry/IPR011989 InterPro IPR013598 http://www.ebi.ac.uk/interpro/entry/IPR013598 InterPro IPR016024 http://www.ebi.ac.uk/interpro/entry/IPR016024 Jabion 23214 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=23214 KEGG_Gene hsa:23214 http://www.genome.jp/dbget-bin/www_bget?hsa:23214 MIM 608411 http://www.ncbi.nlm.nih.gov/omim/608411 MINT MINT-1452541 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1452541 OMA EYVMMYS http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=EYVMMYS OrthoDB EOG091G040W http://cegg.unige.ch/orthodb/results?searchtext=EOG091G040W PROSITE PS50166 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50166 PSORT swissprot:XPO6_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:XPO6_HUMAN PSORT-B swissprot:XPO6_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:XPO6_HUMAN PSORT2 swissprot:XPO6_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:XPO6_HUMAN Pfam PF03810 http://pfam.xfam.org/family/PF03810 Pfam PF08389 http://pfam.xfam.org/family/PF08389 PharmGKB PA134989996 http://www.pharmgkb.org/do/serve?objId=PA134989996&objCls=Gene Phobius swissprot:XPO6_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:XPO6_HUMAN PhylomeDB Q96QU8 http://phylomedb.org/?seqid=Q96QU8 ProteinModelPortal Q96QU8 http://www.proteinmodelportal.org/query/uniprot/Q96QU8 PubMed 12168954 http://www.ncbi.nlm.nih.gov/pubmed/12168954 PubMed 14592989 http://www.ncbi.nlm.nih.gov/pubmed/14592989 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15616553 http://www.ncbi.nlm.nih.gov/pubmed/15616553 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 18691976 http://www.ncbi.nlm.nih.gov/pubmed/18691976 PubMed 19413330 http://www.ncbi.nlm.nih.gov/pubmed/19413330 PubMed 19690332 http://www.ncbi.nlm.nih.gov/pubmed/19690332 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 21406692 http://www.ncbi.nlm.nih.gov/pubmed/21406692 PubMed 22223895 http://www.ncbi.nlm.nih.gov/pubmed/22223895 PubMed 22814378 http://www.ncbi.nlm.nih.gov/pubmed/22814378 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 9205841 http://www.ncbi.nlm.nih.gov/pubmed/9205841 RefSeq NP_001257869 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001257869 RefSeq NP_055986 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_055986 SMART SM00913 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00913 STRING 9606.ENSP00000302790 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000302790&targetmode=cogs SUPFAM SSF48371 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48371 UCSC uc002dpa http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002dpa&org=rat UniGene Hs.460468 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.460468 UniProtKB XPO6_HUMAN http://www.uniprot.org/uniprot/XPO6_HUMAN UniProtKB-AC Q96QU8 http://www.uniprot.org/uniprot/Q96QU8 charge swissprot:XPO6_HUMAN http://rest.g-language.org/emboss/charge/swissprot:XPO6_HUMAN eggNOG COG5101 http://eggnogapi.embl.de/nog_data/html/tree/COG5101 eggNOG KOG2020 http://eggnogapi.embl.de/nog_data/html/tree/KOG2020 epestfind swissprot:XPO6_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:XPO6_HUMAN garnier swissprot:XPO6_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:XPO6_HUMAN helixturnhelix swissprot:XPO6_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:XPO6_HUMAN hmoment swissprot:XPO6_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:XPO6_HUMAN iep swissprot:XPO6_HUMAN http://rest.g-language.org/emboss/iep/swissprot:XPO6_HUMAN inforesidue swissprot:XPO6_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:XPO6_HUMAN neXtProt NX_Q96QU8 http://www.nextprot.org/db/entry/NX_Q96QU8 octanol swissprot:XPO6_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:XPO6_HUMAN pepcoil swissprot:XPO6_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:XPO6_HUMAN pepdigest swissprot:XPO6_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:XPO6_HUMAN pepinfo swissprot:XPO6_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:XPO6_HUMAN pepnet swissprot:XPO6_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:XPO6_HUMAN pepstats swissprot:XPO6_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:XPO6_HUMAN pepwheel swissprot:XPO6_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:XPO6_HUMAN pepwindow swissprot:XPO6_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:XPO6_HUMAN sigcleave swissprot:XPO6_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:XPO6_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS FLOWR_HUMAN Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q9UGQ2-1; Sequence=Displayed; Name=2; IsoId=Q9UGQ2-2; Sequence=VSP_012997; Name=3; IsoId=Q9UGQ2-3; Sequence=VSP_012997, VSP_042522; Note=No experimental confirmation available.; Name=4; IsoId=Q9UGQ2-4; Sequence=VSP_042522; Note=No experimental confirmation available.; # AltName FLOWR_HUMAN Calcium channel flower domain-containing protein 1 # BioGrid 116275 2 # CCDS CCDS48051 -. [Q9UGQ2-2] # CCDS CCDS56591 -. [Q9UGQ2-4] # CCDS CCDS56592 -. [Q9UGQ2-3] # CCDS CCDS6974 -. [Q9UGQ2-1] # Ensembl ENST00000291722 ENSP00000291722; ENSG00000160325. [Q9UGQ2-2] # Ensembl ENST00000316948 ENSP00000317121; ENSG00000160325. [Q9UGQ2-1] # Ensembl ENST00000540581 ENSP00000440832; ENSG00000160325. [Q9UGQ2-4] # Ensembl ENST00000542192 ENSP00000444328; ENSG00000160325. [Q9UGQ2-3] # Ensembl ENST00000625979 ENSP00000486098; ENSG00000280479. [Q9UGQ2-2] # Ensembl ENST00000627083 ENSP00000486812; ENSG00000280479. [Q9UGQ2-3] # Ensembl ENST00000629431 ENSP00000486696; ENSG00000280479. [Q9UGQ2-1] # Ensembl ENST00000630997 ENSP00000485922; ENSG00000280479. [Q9UGQ2-4] # ExpressionAtlas Q9UGQ2 baseline and differential # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0005262 calcium channel activity; TAS:Reactome. # GO_process GO:0016192 vesicle-mediated transport; IBA:GO_Central. # GO_process GO:0051899 membrane depolarization; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0008150 biological_process # GOslim_process GO:0016192 vesicle-mediated transport # Genevisible Q9UGQ2 HS # HGNC HGNC:1365 CACFD1 # INTERACTION FLOWR_HUMAN Q96B96 TMEM159; NbExp=4; IntAct=EBI-8652492, EBI-7055862; # InterPro IPR019365 TVP18/Ca-channel_flower # MIM 613104 gene # Organism FLOWR_HUMAN Homo sapiens (Human) # PANTHER PTHR13314 PTHR13314 # Pfam PF10233 Cg6151-P # Proteomes UP000005640 Chromosome 9 # Reactome R-HSA-112308 Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels # RecName FLOWR_HUMAN Calcium channel flower homolog # RefSeq NP_001129247 NM_001135775.2. [Q9UGQ2-2] # RefSeq NP_001229298 NM_001242369.1. [Q9UGQ2-4] # RefSeq NP_001229299 NM_001242370.1. [Q9UGQ2-3] # RefSeq NP_060056 NM_017586.3. [Q9UGQ2-1] # SIMILARITY Belongs to the calcium channel flower family. {ECO 0000305}. # SMART SM01077 Cg6151-P # SUBCELLULAR LOCATION FLOWR_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # TCDB 1.A.55.1 the synaptic vesicle-associated ca(2+) channel, flower (flower) family # UCSC uc004cec human. [Q9UGQ2-1] BLAST swissprot:FLOWR_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:FLOWR_HUMAN COXPRESdb 11094 http://coxpresdb.jp/data/gene/11094.shtml CleanEx HS_C9orf7 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_C9orf7 DOI 10.1038/nature02465 http://dx.doi.org/10.1038/nature02465 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1093/dnares/12.2.117 http://dx.doi.org/10.1093/dnares/12.2.117 DOI 10.1101/gr.1293003 http://dx.doi.org/10.1101/gr.1293003 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AJ011373 http://www.ebi.ac.uk/ena/data/view/AJ011373 EMBL AK074852 http://www.ebi.ac.uk/ena/data/view/AK074852 EMBL AK075416 http://www.ebi.ac.uk/ena/data/view/AK075416 EMBL AK075548 http://www.ebi.ac.uk/ena/data/view/AK075548 EMBL AK296343 http://www.ebi.ac.uk/ena/data/view/AK296343 EMBL AK298820 http://www.ebi.ac.uk/ena/data/view/AK298820 EMBL AL593848 http://www.ebi.ac.uk/ena/data/view/AL593848 EMBL AY358452 http://www.ebi.ac.uk/ena/data/view/AY358452 EMBL BC030558 http://www.ebi.ac.uk/ena/data/view/BC030558 Ensembl ENST00000291722 http://www.ensembl.org/id/ENST00000291722 Ensembl ENST00000316948 http://www.ensembl.org/id/ENST00000316948 Ensembl ENST00000540581 http://www.ensembl.org/id/ENST00000540581 Ensembl ENST00000542192 http://www.ensembl.org/id/ENST00000542192 Ensembl ENST00000625979 http://www.ensembl.org/id/ENST00000625979 Ensembl ENST00000627083 http://www.ensembl.org/id/ENST00000627083 Ensembl ENST00000629431 http://www.ensembl.org/id/ENST00000629431 Ensembl ENST00000630997 http://www.ensembl.org/id/ENST00000630997 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005262 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005262 GO_process GO:0016192 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016192 GO_process GO:0051899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051899 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0016192 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016192 GeneCards CACFD1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CACFD1 GeneID 11094 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=11094 GeneTree ENSGT00390000000529 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000000529 HGNC HGNC:1365 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:1365 HOGENOM HOG000231809 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231809&db=HOGENOM6 HOVERGEN HBG050956 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050956&db=HOVERGEN HPA HPA015280 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA015280 InParanoid Q9UGQ2 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9UGQ2 IntAct Q9UGQ2 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9UGQ2* InterPro IPR019365 http://www.ebi.ac.uk/interpro/entry/IPR019365 Jabion 11094 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=11094 KEGG_Gene hsa:11094 http://www.genome.jp/dbget-bin/www_bget?hsa:11094 MIM 613104 http://www.ncbi.nlm.nih.gov/omim/613104 OMA CGMAVIP http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=CGMAVIP OrthoDB EOG091G0TAC http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0TAC PANTHER PTHR13314 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR13314 PSORT swissprot:FLOWR_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:FLOWR_HUMAN PSORT-B swissprot:FLOWR_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:FLOWR_HUMAN PSORT2 swissprot:FLOWR_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:FLOWR_HUMAN Pfam PF10233 http://pfam.xfam.org/family/PF10233 PharmGKB PA25982 http://www.pharmgkb.org/do/serve?objId=PA25982&objCls=Gene Phobius swissprot:FLOWR_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:FLOWR_HUMAN PhylomeDB Q9UGQ2 http://phylomedb.org/?seqid=Q9UGQ2 ProteinModelPortal Q9UGQ2 http://www.proteinmodelportal.org/query/uniprot/Q9UGQ2 PubMed 12975309 http://www.ncbi.nlm.nih.gov/pubmed/12975309 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15164053 http://www.ncbi.nlm.nih.gov/pubmed/15164053 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16303743 http://www.ncbi.nlm.nih.gov/pubmed/16303743 Reactome R-HSA-112308 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-112308 RefSeq NP_001129247 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001129247 RefSeq NP_001229298 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001229298 RefSeq NP_001229299 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001229299 RefSeq NP_060056 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_060056 SMART SM01077 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM01077 TCDB 1.A.55.1 http://www.tcdb.org/search/result.php?tc=1.A.55.1 UCSC uc004cec http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc004cec&org=rat UniGene Hs.62003 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.62003 UniProtKB FLOWR_HUMAN http://www.uniprot.org/uniprot/FLOWR_HUMAN UniProtKB-AC Q9UGQ2 http://www.uniprot.org/uniprot/Q9UGQ2 charge swissprot:FLOWR_HUMAN http://rest.g-language.org/emboss/charge/swissprot:FLOWR_HUMAN epestfind swissprot:FLOWR_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:FLOWR_HUMAN garnier swissprot:FLOWR_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:FLOWR_HUMAN helixturnhelix swissprot:FLOWR_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:FLOWR_HUMAN hmoment swissprot:FLOWR_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:FLOWR_HUMAN iep swissprot:FLOWR_HUMAN http://rest.g-language.org/emboss/iep/swissprot:FLOWR_HUMAN inforesidue swissprot:FLOWR_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:FLOWR_HUMAN neXtProt NX_Q9UGQ2 http://www.nextprot.org/db/entry/NX_Q9UGQ2 octanol swissprot:FLOWR_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:FLOWR_HUMAN pepcoil swissprot:FLOWR_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:FLOWR_HUMAN pepdigest swissprot:FLOWR_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:FLOWR_HUMAN pepinfo swissprot:FLOWR_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:FLOWR_HUMAN pepnet swissprot:FLOWR_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:FLOWR_HUMAN pepstats swissprot:FLOWR_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:FLOWR_HUMAN pepwheel swissprot:FLOWR_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:FLOWR_HUMAN pepwindow swissprot:FLOWR_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:FLOWR_HUMAN sigcleave swissprot:FLOWR_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:FLOWR_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS NCKX2_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9UI40-1; Sequence=Displayed; Name=2; IsoId=Q9UI40-2; Sequence=VSP_006164; # AltName NCKX2_HUMAN Na(+)/K(+)/Ca(2+)-exchange protein 2 # AltName NCKX2_HUMAN Retinal cone Na-Ca+K exchanger # AltName NCKX2_HUMAN Solute carrier family 24 member 2 # CCDS CCDS55297 -. [Q9UI40-2] # CCDS CCDS6493 -. [Q9UI40-1] # ChiTaRS SLC24A2 human # Ensembl ENST00000286344 ENSP00000286344; ENSG00000155886. [Q9UI40-2] # Ensembl ENST00000341998 ENSP00000344801; ENSG00000155886. [Q9UI40-1] # FUNCTION NCKX2_HUMAN Critical component of the visual transduction cascade, controlling the calcium concentration of outer segments during light and darkness. Light causes a rapid lowering of cytosolic free calcium in the outer segment of both retinal rod and cone photoreceptors and the light-induced lowering of calcium is caused by extrusion via this protein which plays a key role in the process of light adaptation. Transports 1 Ca(2+) and 1 K(+) in exchange for 4 Na(+). # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_function GO:0005262 calcium channel activity; IBA:GO_Central. # GO_function GO:0005509 calcium ion binding; IBA:GO_Central. # GO_function GO:0015293 symporter activity; IEA:UniProtKB-KW. # GO_function GO:0016151 nickel cation binding; IEA:Ensembl. # GO_function GO:0030145 manganese ion binding; IEA:Ensembl. # GO_function GO:0030955 potassium ion binding; IBA:GO_Central. # GO_function GO:0031402 sodium ion binding; IBA:GO_Central. # GO_function GO:0046870 cadmium ion binding; IEA:Ensembl. # GO_function NCKX2_HUMAN GO 0008273 calcium, potassium sodium antiporter activity; IDA MGI. # GO_process GO:0006811 ion transport; TAS:Reactome. # GO_process GO:0006874 cellular calcium ion homeostasis; IBA:GO_Central. # GO_process GO:0007601 visual perception; IEA:UniProtKB-KW. # GO_process GO:0007612 learning; IEA:Ensembl. # GO_process GO:0007613 memory; IEA:Ensembl. # GO_process GO:0034220 ion transmembrane transport; IDA:MGI. # GO_process GO:0050896 response to stimulus; IEA:UniProtKB-KW. # GO_process GO:0060291 long-term synaptic potentiation; IBA:GO_Central. # GO_process GO:0060292 long term synaptic depression; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0050877 neurological system process # GOslim_process GO:0055085 transmembrane transport # Genevisible Q9UI40 HS # HGNC HGNC:10976 SLC24A2 # InterPro IPR004481 K/Na/Ca-exchanger # InterPro IPR004837 NaCa_Exmemb # KEGG_Brite ko02001 Solute carrier family # MIM 609838 gene # Organism NCKX2_HUMAN Homo sapiens (Human) # PANTHER PTHR10846 PTHR10846 # Pfam PF01699 Na_Ca_ex; 2 # Proteomes UP000005640 Chromosome 9 # Reactome R-HSA-425561 Sodium/Calcium exchangers # RecName NCKX2_HUMAN Sodium/potassium/calcium exchanger 2 # RefSeq NP_001180217 NM_001193288.2. [Q9UI40-2] # RefSeq NP_065077 NM_020344.3. [Q9UI40-1] # RefSeq XP_005251482 XM_005251425.2. [Q9UI40-1] # RefSeq XP_005251483 XM_005251426.4. [Q9UI40-1] # RefSeq XP_006716813 XM_006716750.3. [Q9UI40-2] # RefSeq XP_016870081 XM_017014592.1. [Q9UI40-1] # RefSeq XP_016870082 XM_017014593.1. [Q9UI40-2] # SIMILARITY Belongs to the Ca(2+):cation antiporter (CaCA) (TC 2.A.19) family. SLC24A subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION NCKX2_HUMAN Membrane; Multi-pass membrane protein. # TCDB 2.A.19.4.11:the ca(2+) cation antiporter (caca) family # TIGRFAMs TIGR00367 TIGR00367 # UCSC uc003zoa human. [Q9UI40-1] # eggNOG ENOG410Y9YY LUCA # eggNOG KOG1307 Eukaryota BLAST swissprot:NCKX2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:NCKX2_HUMAN BioCyc ZFISH:ENSG00000155886-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000155886-MONOMER COXPRESdb 25769 http://coxpresdb.jp/data/gene/25769.shtml CleanEx HS_SLC24A2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC24A2 DOI 10.1021/bi0270788 http://dx.doi.org/10.1021/bi0270788 DOI 10.1038/nature02465 http://dx.doi.org/10.1038/nature02465 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AF097366 http://www.ebi.ac.uk/ena/data/view/AF097366 EMBL AF177987 http://www.ebi.ac.uk/ena/data/view/AF177987 EMBL AL133281 http://www.ebi.ac.uk/ena/data/view/AL133281 EMBL AL133281 http://www.ebi.ac.uk/ena/data/view/AL133281 EMBL AL133281 http://www.ebi.ac.uk/ena/data/view/AL133281 EMBL AL133281 http://www.ebi.ac.uk/ena/data/view/AL133281 EMBL AL133281 http://www.ebi.ac.uk/ena/data/view/AL133281 EMBL AL133281 http://www.ebi.ac.uk/ena/data/view/AL133281 EMBL AL158077 http://www.ebi.ac.uk/ena/data/view/AL158077 EMBL AL158077 http://www.ebi.ac.uk/ena/data/view/AL158077 EMBL AL158077 http://www.ebi.ac.uk/ena/data/view/AL158077 EMBL AL158077 http://www.ebi.ac.uk/ena/data/view/AL158077 EMBL AL158077 http://www.ebi.ac.uk/ena/data/view/AL158077 EMBL AL158077 http://www.ebi.ac.uk/ena/data/view/AL158077 EMBL AL158206 http://www.ebi.ac.uk/ena/data/view/AL158206 EMBL AL158206 http://www.ebi.ac.uk/ena/data/view/AL158206 EMBL AL158206 http://www.ebi.ac.uk/ena/data/view/AL158206 EMBL AL158206 http://www.ebi.ac.uk/ena/data/view/AL158206 EMBL AL158206 http://www.ebi.ac.uk/ena/data/view/AL158206 EMBL AL158206 http://www.ebi.ac.uk/ena/data/view/AL158206 EMBL BC069622 http://www.ebi.ac.uk/ena/data/view/BC069622 EMBL BC143889 http://www.ebi.ac.uk/ena/data/view/BC143889 Ensembl ENST00000286344 http://www.ensembl.org/id/ENST00000286344 Ensembl ENST00000341998 http://www.ensembl.org/id/ENST00000341998 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0005262 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005262 GO_function GO:0005509 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005509 GO_function GO:0008273 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008273 GO_function GO:0015293 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015293 GO_function GO:0016151 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016151 GO_function GO:0030145 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030145 GO_function GO:0030955 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030955 GO_function GO:0031402 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031402 GO_function GO:0046870 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046870 GO_process GO:0006811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006811 GO_process GO:0006874 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006874 GO_process GO:0007601 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007601 GO_process GO:0007612 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007612 GO_process GO:0007613 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007613 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0050896 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050896 GO_process GO:0060291 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060291 GO_process GO:0060292 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060292 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC24A2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC24A2 GeneID 25769 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=25769 GeneTree ENSGT00760000119209 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119209 HGNC HGNC:10976 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10976 HOGENOM HOG000231933 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231933&db=HOGENOM6 HOVERGEN HBG054881 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG054881&db=HOVERGEN HPA HPA057278 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA057278 InParanoid Q9UI40 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9UI40 InterPro IPR004481 http://www.ebi.ac.uk/interpro/entry/IPR004481 InterPro IPR004837 http://www.ebi.ac.uk/interpro/entry/IPR004837 Jabion 25769 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=25769 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:25769 http://www.genome.jp/dbget-bin/www_bget?hsa:25769 KEGG_Orthology KO:K13750 http://www.genome.jp/dbget-bin/www_bget?KO:K13750 MIM 609838 http://www.ncbi.nlm.nih.gov/omim/609838 OMA SSNTWCH http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=SSNTWCH OrthoDB EOG091G0M5C http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0M5C PANTHER PTHR10846 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10846 PSORT swissprot:NCKX2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:NCKX2_HUMAN PSORT-B swissprot:NCKX2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:NCKX2_HUMAN PSORT2 swissprot:NCKX2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:NCKX2_HUMAN Pfam PF01699 http://pfam.xfam.org/family/PF01699 PharmGKB PA35852 http://www.pharmgkb.org/do/serve?objId=PA35852&objCls=Gene Phobius swissprot:NCKX2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:NCKX2_HUMAN PhylomeDB Q9UI40 http://phylomedb.org/?seqid=Q9UI40 ProteinModelPortal Q9UI40 http://www.proteinmodelportal.org/query/uniprot/Q9UI40 PubMed 10662833 http://www.ncbi.nlm.nih.gov/pubmed/10662833 PubMed 12600216 http://www.ncbi.nlm.nih.gov/pubmed/12600216 PubMed 15164053 http://www.ncbi.nlm.nih.gov/pubmed/15164053 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 Reactome R-HSA-425561 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-425561 RefSeq NP_001180217 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001180217 RefSeq NP_065077 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_065077 RefSeq XP_005251482 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005251482 RefSeq XP_005251483 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005251483 RefSeq XP_006716813 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006716813 RefSeq XP_016870081 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016870081 RefSeq XP_016870082 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016870082 STRING 9606.ENSP00000344801 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000344801&targetmode=cogs TCDB 2.A.19.4.11 http://www.tcdb.org/search/result.php?tc=2.A.19.4.11 TIGRFAMs TIGR00367 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00367 UCSC uc003zoa http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003zoa&org=rat UniGene Hs.283014 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.283014 UniGene Hs.590750 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.590750 UniGene Hs.738749 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.738749 UniProtKB NCKX2_HUMAN http://www.uniprot.org/uniprot/NCKX2_HUMAN UniProtKB-AC Q9UI40 http://www.uniprot.org/uniprot/Q9UI40 charge swissprot:NCKX2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:NCKX2_HUMAN eggNOG ENOG410Y9YY http://eggnogapi.embl.de/nog_data/html/tree/ENOG410Y9YY eggNOG KOG1307 http://eggnogapi.embl.de/nog_data/html/tree/KOG1307 epestfind swissprot:NCKX2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:NCKX2_HUMAN garnier swissprot:NCKX2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:NCKX2_HUMAN helixturnhelix swissprot:NCKX2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:NCKX2_HUMAN hmoment swissprot:NCKX2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:NCKX2_HUMAN iep swissprot:NCKX2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:NCKX2_HUMAN inforesidue swissprot:NCKX2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:NCKX2_HUMAN neXtProt NX_Q9UI40 http://www.nextprot.org/db/entry/NX_Q9UI40 octanol swissprot:NCKX2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:NCKX2_HUMAN pepcoil swissprot:NCKX2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:NCKX2_HUMAN pepdigest swissprot:NCKX2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:NCKX2_HUMAN pepinfo swissprot:NCKX2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:NCKX2_HUMAN pepnet swissprot:NCKX2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:NCKX2_HUMAN pepstats swissprot:NCKX2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:NCKX2_HUMAN pepwheel swissprot:NCKX2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:NCKX2_HUMAN pepwindow swissprot:NCKX2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:NCKX2_HUMAN sigcleave swissprot:NCKX2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:NCKX2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS PCFT_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96NT5-1; Sequence=Displayed; Name=2; IsoId=Q96NT5-2; Sequence=VSP_016053; Note=Inactive isoform which results in impaired folate absorption, giving rise to hereditary folate malabsorption (HFM).; # AltName PCFT_HUMAN G21 # AltName PCFT_HUMAN Heme carrier protein 1 # AltName PCFT_HUMAN PCFT/HCP1 # AltName PCFT_HUMAN Solute carrier family 46 member 1 # BIOPHYSICOCHEMICAL PROPERTIES PCFT_HUMAN Kinetic parameters KM=1.3 uM for folic acid (at pH 5.5) {ECO 0000269|PubMed 17129779, ECO 0000269|PubMed 17475902}; KM=1.5 uM for folic acid (at pH 6.0) {ECO 0000269|PubMed 17129779, ECO 0000269|PubMed 17475902}; KM=2.7 uM for folic acid (at pH 6.5) {ECO 0000269|PubMed 17129779, ECO 0000269|PubMed 17475902}; KM=6.0 uM for folic acid (at pH 7.0) {ECO 0000269|PubMed 17129779, ECO 0000269|PubMed 17475902}; KM=56.2 uM for folic acid (at pH 7.5) {ECO 0000269|PubMed 17129779, ECO 0000269|PubMed 17475902}; pH dependence Optimum pH is 4.0-5.5. Activity decreases above pH 5.5 and reaches negligible levels at neutral pH and above. {ECO 0000269|PubMed 17129779, ECO 0000269|PubMed 17475902}; # BioGrid 125236 2 # CCDS CCDS74019 -. [Q96NT5-2] # CCDS CCDS74020 -. [Q96NT5-1] # CDD cd06174 MFS # DISEASE PCFT_HUMAN Hereditary folate malabsorption (HFM) [MIM 229050] Rare autosomal recessive disorder characterized by impaired intestinal folate absorption with folate deficiency resulting in anemia, hypoimmunoglobulinemia with recurrent infections, and recurrent or chronic diarrhea. In many patients, neurological abnormalities such as seizures or mental retardation become apparent during early childhood, attributed to impaired transport of folates into the central nervous system. When diagnosed early, the disorder can be treated by administration of folate. If untreated, it can be fatal and, if treatment is delayed, the neurological defects can become permanent. {ECO 0000269|PubMed 17129779, ECO 0000269|PubMed 17446347, ECO 0000269|PubMed 18559978, ECO 0000269|PubMed 20686069, ECO 0000269|PubMed 20805364, ECO 0000269|PubMed 21333572}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DrugBank DB00158 Folic Acid # DrugBank DB00563 Methotrexate # DrugBank DB00795 Sulfasalazine # Ensembl ENST00000612814 ENSP00000480703; ENSG00000076351. [Q96NT5-1] # Ensembl ENST00000618626 ENSP00000483652; ENSG00000076351. [Q96NT5-2] # ExpressionAtlas Q96NT5 baseline and differential # FUNCTION PCFT_HUMAN Has been shown to act both as an intestinal proton- coupled high-affinity folate transporter and as an intestinal heme transporter which mediates heme uptake from the gut lumen into duodenal epithelial cells. The iron is then released from heme and may be transported into the bloodstream. Dietary heme iron is an important nutritional source of iron. Shows a higher affinity for folate than heme. {ECO 0000269|PubMed 17129779, ECO 0000269|PubMed 17156779, ECO 0000269|PubMed 17446347, ECO 0000269|PubMed 17475902}. # GO_component GO:0005737 cytoplasm; ISS:UniProtKB. # GO_component GO:0005886 plasma membrane; IDA:BHF-UCL. # GO_component GO:0009986 cell surface; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0016324 apical plasma membrane; IDA:UniProtKB. # GO_component GO:0031526 brush border membrane; IEA:Ensembl. # GO_function GO:0005542 folic acid binding; IEA:UniProtKB-KW. # GO_function GO:0008517 folic acid transporter activity; IDA:UniProtKB. # GO_function GO:0015078 hydrogen ion transmembrane transporter activity; IDA:BHF-UCL. # GO_function GO:0015232 heme transporter activity; TAS:Reactome. # GO_function GO:0015350 methotrexate transporter activity; IC:BHF-UCL. # GO_process GO:0006879 cellular iron ion homeostasis; TAS:Reactome. # GO_process GO:0015884 folic acid transport; IDA:UniProtKB. # GO_process GO:0046655 folic acid metabolic process; TAS:Reactome. # GO_process GO:0051958 methotrexate transport; IDA:BHF-UCL. # GO_process GO:0098829 intestinal folate absorption; IC:BHF-UCL. # GO_process GO:1902600 hydrogen ion transmembrane transport; IDA:BHF-UCL. # GO_process GO:1904447 folic acid import into cell; IDA:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0044281 small molecule metabolic process # GOslim_process GO:0051186 cofactor metabolic process # GOslim_process GO:0055085 transmembrane transport # Genevisible Q96NT5 HS # HGNC HGNC:30521 SLC46A1 # IntAct Q96NT5 2 # InterPro IPR005829 Sugar_transporter_CS # InterPro IPR011701 MFS # InterPro IPR020846 MFS_dom # KEGG_Brite ko02000 Transporters # KEGG_Brite ko02001 Solute carrier family # KEGG_Disease H01252 [Hematologic disease] Hereditary folate malabsorption (HFM) # MIM 229050 phenotype # MIM 611672 gene # Organism PCFT_HUMAN Homo sapiens (Human) # Orphanet 90045 Hereditary folate malabsorption # PROSITE PS50850 MFS # Pfam PF07690 MFS_1 # Proteomes UP000005640 Chromosome 17 # Reactome R-HSA-196757 Metabolism of folate and pterines # Reactome R-HSA-917937 Iron uptake and transport # RecName PCFT_HUMAN Proton-coupled folate transporter # RefSeq NP_001229295 NM_001242366.2. [Q96NT5-2] # RefSeq NP_542400 NM_080669.5. [Q96NT5-1] # SIMILARITY Belongs to the major facilitator superfamily. SLC46A family. {ECO 0000305}. # SUBCELLULAR LOCATION PCFT_HUMAN Apical cell membrane; Multi-pass membrane protein. Cytoplasm {ECO 0000250}. Note=Localizes to the apical membrane of intestinal cells in iron-deficient cells, while it resides in the cytoplasm in iron-replete cells. {ECO 0000250}. # SUBUNIT Monomer. {ECO:0000269|PubMed 23601781}. # SUPFAM SSF103473 SSF103473 # TCDB 2.A.1.50 the major facilitator superfamily (mfs) # TISSUE SPECIFICITY PCFT_HUMAN Expressed in kidney, liver, placenta, small intestine, spleen, retina and retinal pigment epithelium. Lower levels found in colon and testis. Very low levels in brain, lung, stomach, heart and muscle. In intestine, expressed in duodenum with lower levels in jejunum, ileum, cecum, rectum and segments of the colon. {ECO 0000269|PubMed 17129779, ECO 0000269|PubMed 17335806}. # UCSC uc032ezi human. [Q96NT5-1] # WEB RESOURCE PCFT_HUMAN Name=Mendelian genes solute carrier family 46 (folate transporter), member 1 (SLC46A1); Note=Leiden Open Variation Database (LOVD); URL="http //www.lovd.nl/SLC46A1"; # eggNOG ENOG410ZVCA LUCA # eggNOG KOG2816 Eukaryota BLAST swissprot:PCFT_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:PCFT_HUMAN BioCyc ZFISH:ENSG00000076351-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000076351-MONOMER COXPRESdb 113235 http://coxpresdb.jp/data/gene/113235.shtml CleanEx HS_SLC46A1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC46A1 DOI 10.1016/j.cell.2005.06.025 http://dx.doi.org/10.1016/j.cell.2005.06.025 DOI 10.1016/j.cell.2006.09.041 http://dx.doi.org/10.1016/j.cell.2006.09.041 DOI 10.1016/j.febslet.2006.11.048 http://dx.doi.org/10.1016/j.febslet.2006.11.048 DOI 10.1016/j.molcel.2008.07.007 http://dx.doi.org/10.1016/j.molcel.2008.07.007 DOI 10.1016/j.yexcr.2007.01.019 http://dx.doi.org/10.1016/j.yexcr.2007.01.019 DOI 10.1016/j.ymgme.2011.01.008 http://dx.doi.org/10.1016/j.ymgme.2011.01.008 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1021/pr8008012 http://dx.doi.org/10.1021/pr8008012 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1073/pnas.1210303109 http://dx.doi.org/10.1073/pnas.1210303109 DOI 10.1074/jbc.M114.578252 http://dx.doi.org/10.1074/jbc.M114.578252 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/febs.12293 http://dx.doi.org/10.1111/febs.12293 DOI 10.1124/jpet.107.122606 http://dx.doi.org/10.1124/jpet.107.122606 DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 DOI 10.1152/ajpcell.00113.2010 http://dx.doi.org/10.1152/ajpcell.00113.2010 DOI 10.1182/blood-2007-02-077099 http://dx.doi.org/10.1182/blood-2007-02-077099 DOI 10.1182/blood-2008-04-150276 http://dx.doi.org/10.1182/blood-2008-04-150276 DOI 10.1182/blood-2010-06-291237 http://dx.doi.org/10.1182/blood-2010-06-291237 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 DrugBank DB00158 http://www.drugbank.ca/drugs/DB00158 DrugBank DB00563 http://www.drugbank.ca/drugs/DB00563 DrugBank DB00795 http://www.drugbank.ca/drugs/DB00795 EMBL AK054669 http://www.ebi.ac.uk/ena/data/view/AK054669 EMBL AK074161 http://www.ebi.ac.uk/ena/data/view/AK074161 EMBL AL832613 http://www.ebi.ac.uk/ena/data/view/AL832613 EMBL BC010691 http://www.ebi.ac.uk/ena/data/view/BC010691 EMBL DQ496103 http://www.ebi.ac.uk/ena/data/view/DQ496103 Ensembl ENST00000612814 http://www.ensembl.org/id/ENST00000612814 Ensembl ENST00000618626 http://www.ensembl.org/id/ENST00000618626 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0009986 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009986 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:0031526 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031526 GO_function GO:0005542 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005542 GO_function GO:0008517 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008517 GO_function GO:0015078 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015078 GO_function GO:0015232 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015232 GO_function GO:0015350 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015350 GO_process GO:0006879 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006879 GO_process GO:0015884 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015884 GO_process GO:0046655 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046655 GO_process GO:0051958 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051958 GO_process GO:0098829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0098829 GO_process GO:1902600 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902600 GO_process GO:1904447 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1904447 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GOslim_process GO:0051186 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051186 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC46A1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC46A1 GeneID 113235 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=113235 GeneTree ENSGT00530000063076 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000063076 H-InvDB HIX0022189 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0022189 HGNC HGNC:30521 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:30521 HOGENOM HOG000054191 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000054191&db=HOGENOM6 HOVERGEN HBG055334 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG055334&db=HOVERGEN HPA CAB011614 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB011614 InParanoid Q96NT5 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q96NT5 IntAct Q96NT5 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q96NT5* InterPro IPR005829 http://www.ebi.ac.uk/interpro/entry/IPR005829 InterPro IPR011701 http://www.ebi.ac.uk/interpro/entry/IPR011701 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 113235 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=113235 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Disease H01252 http://www.genome.jp/dbget-bin/www_bget?H01252 KEGG_Gene hsa:113235 http://www.genome.jp/dbget-bin/www_bget?hsa:113235 KEGG_Orthology KO:K14613 http://www.genome.jp/dbget-bin/www_bget?KO:K14613 MIM 229050 http://www.ncbi.nlm.nih.gov/omim/229050 MIM 611672 http://www.ncbi.nlm.nih.gov/omim/611672 OMA FANTHAQ http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=FANTHAQ Orphanet 90045 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=90045 OrthoDB EOG091G08MP http://cegg.unige.ch/orthodb/results?searchtext=EOG091G08MP PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PSORT swissprot:PCFT_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:PCFT_HUMAN PSORT-B swissprot:PCFT_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:PCFT_HUMAN PSORT2 swissprot:PCFT_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:PCFT_HUMAN Pfam PF07690 http://pfam.xfam.org/family/PF07690 PharmGKB PA162403775 http://www.pharmgkb.org/do/serve?objId=PA162403775&objCls=Gene Phobius swissprot:PCFT_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:PCFT_HUMAN PhylomeDB Q96NT5 http://phylomedb.org/?seqid=Q96NT5 ProteinModelPortal Q96NT5 http://www.proteinmodelportal.org/query/uniprot/Q96NT5 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16143108 http://www.ncbi.nlm.nih.gov/pubmed/16143108 PubMed 17129779 http://www.ncbi.nlm.nih.gov/pubmed/17129779 PubMed 17156779 http://www.ncbi.nlm.nih.gov/pubmed/17156779 PubMed 17335806 http://www.ncbi.nlm.nih.gov/pubmed/17335806 PubMed 17446347 http://www.ncbi.nlm.nih.gov/pubmed/17446347 PubMed 17475902 http://www.ncbi.nlm.nih.gov/pubmed/17475902 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 PubMed 18559978 http://www.ncbi.nlm.nih.gov/pubmed/18559978 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 18691976 http://www.ncbi.nlm.nih.gov/pubmed/18691976 PubMed 19159218 http://www.ncbi.nlm.nih.gov/pubmed/19159218 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 20686069 http://www.ncbi.nlm.nih.gov/pubmed/20686069 PubMed 20805364 http://www.ncbi.nlm.nih.gov/pubmed/20805364 PubMed 21333572 http://www.ncbi.nlm.nih.gov/pubmed/21333572 PubMed 22814378 http://www.ncbi.nlm.nih.gov/pubmed/22814378 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 23601781 http://www.ncbi.nlm.nih.gov/pubmed/23601781 PubMed 25053408 http://www.ncbi.nlm.nih.gov/pubmed/25053408 Reactome R-HSA-196757 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-196757 Reactome R-HSA-917937 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-917937 RefSeq NP_001229295 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001229295 RefSeq NP_542400 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_542400 STRING 9606.ENSP00000395653 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000395653&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.1.50 http://www.tcdb.org/search/result.php?tc=2.A.1.50 UCSC uc032ezi http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc032ezi&org=rat UniGene Hs.446689 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.446689 UniProtKB PCFT_HUMAN http://www.uniprot.org/uniprot/PCFT_HUMAN UniProtKB-AC Q96NT5 http://www.uniprot.org/uniprot/Q96NT5 charge swissprot:PCFT_HUMAN http://rest.g-language.org/emboss/charge/swissprot:PCFT_HUMAN eggNOG ENOG410ZVCA http://eggnogapi.embl.de/nog_data/html/tree/ENOG410ZVCA eggNOG KOG2816 http://eggnogapi.embl.de/nog_data/html/tree/KOG2816 epestfind swissprot:PCFT_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:PCFT_HUMAN garnier swissprot:PCFT_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:PCFT_HUMAN helixturnhelix swissprot:PCFT_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:PCFT_HUMAN hmoment swissprot:PCFT_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:PCFT_HUMAN iep swissprot:PCFT_HUMAN http://rest.g-language.org/emboss/iep/swissprot:PCFT_HUMAN inforesidue swissprot:PCFT_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:PCFT_HUMAN neXtProt NX_Q96NT5 http://www.nextprot.org/db/entry/NX_Q96NT5 octanol swissprot:PCFT_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:PCFT_HUMAN pepcoil swissprot:PCFT_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:PCFT_HUMAN pepdigest swissprot:PCFT_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:PCFT_HUMAN pepinfo swissprot:PCFT_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:PCFT_HUMAN pepnet swissprot:PCFT_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:PCFT_HUMAN pepstats swissprot:PCFT_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:PCFT_HUMAN pepwheel swissprot:PCFT_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:PCFT_HUMAN pepwindow swissprot:PCFT_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:PCFT_HUMAN sigcleave swissprot:PCFT_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:PCFT_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS AT2C2_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=O75185-1; Sequence=Displayed; Name=2; IsoId=O75185-2; Sequence=VSP_035989; Note=Ref.2 (BAA31678) sequence is in conflict in position 12 R->I. {ECO 0000305}; Name=3; IsoId=O75185-3; Sequence=VSP_054679; Note=No experimental confirmation available. Ref.4 (CAI46049) sequence is in conflict in position 789 A->G. {ECO 0000305}; # AltName AT2C2_HUMAN Secretory pathway Ca(2+)-ATPase 2 # BRENDA 3.6.3 2681 # CATALYTIC ACTIVITY AT2C2_HUMAN ATP + H(2)O + Ca(2+)(Side 1) = ADP + phosphate + Ca(2+)(Side 2). # CCDS CCDS42207 -. [O75185-1] # CCDS CCDS67088 -. [O75185-3] # ChiTaRS ATP2C2 human # Ensembl ENST00000262429 ENSP00000262429; ENSG00000064270 # ExpressionAtlas O75185 baseline and differential # FUNCTION AT2C2_HUMAN This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium. {ECO 0000250}. # GO_component GO:0000139 Golgi membrane; IBA:GO_Central. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_function GO:0005388 calcium-transporting ATPase activity; IBA:GO_Central. # GO_function GO:0005524 ATP binding; IEA:UniProtKB-KW. # GO_function GO:0015410 manganese-transporting ATPase activity; IBA:GO_Central. # GO_function GO:0046872 metal ion binding; IEA:UniProtKB-KW. # GO_process GO:0006874 cellular calcium ion homeostasis; IBA:GO_Central. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.20.1110.10 -; 3. # Genevisible O75185 HS # HGNC HGNC:29103 ATP2C2 # INTERACTION AT2C2_HUMAN Q96D31 ORAI1; NbExp=10; IntAct=EBI-2939806, EBI-2291476; # InterPro IPR001757 P_typ_ATPase # InterPro IPR004014 ATPase_P-typ_cation-transptr_N # InterPro IPR006068 ATPase_P-typ_cation-transptr_C # InterPro IPR006413 P-type_ATPase_IIA_PMR1 # InterPro IPR008250 ATPase_P-typ_transduc_dom_A # InterPro IPR018303 ATPase_P-typ_P_site # InterPro IPR023214 HAD-like_dom # InterPro IPR023298 ATPase_P-typ_TM_dom # InterPro IPR023299 ATPase_P-typ_cyto_domN # InterPro IPR030334 ATP2C2 # KEGG_Brite ko01000 Enzymes # MIM 613082 gene # Organism AT2C2_HUMAN Homo sapiens (Human) # PANTHER PTHR24093:SF220 PTHR24093:SF220 # PRINTS PR00120 HATPASE # PROSITE PS00154 ATPASE_E1_E2 # Pfam PF00122 E1-E2_ATPase # Pfam PF00689 Cation_ATPase_C # Pfam PF00690 Cation_ATPase_N # Proteomes UP000005640 Chromosome 16 # Reactome R-HSA-936837 Ion transport by P-type ATPases # RecName AT2C2_HUMAN Calcium-transporting ATPase type 2C member 2 # RefSeq NP_001273456 NM_001286527.2 # RefSeq NP_001278383 NM_001291454.1 # RefSeq NP_055676 NM_014861.3 # SEQUENCE CAUTION Sequence=BAA31678.2; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIA subfamily. {ECO 0000305}. # SMART SM00831 Cation_ATPase_N # SUBCELLULAR LOCATION AT2C2_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # SUPFAM SSF56784 SSF56784; 2 # SUPFAM SSF81660 SSF81660 # TCDB 3.A.3.2 the p-type atpase (p-atpase) superfamily # TIGRFAMs TIGR01494 ATPase_P-type; 2 # TIGRFAMs TIGR01522 ATPase-IIA2_Ca # UCSC uc002fhx human. [O75185-1] # eggNOG COG0474 LUCA # eggNOG KOG0202 Eukaryota BLAST swissprot:AT2C2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:AT2C2_HUMAN BioCyc ZFISH:HS00799-MONOMER http://biocyc.org/getid?id=ZFISH:HS00799-MONOMER COG COG0474 http://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=COG0474 COXPRESdb 9914 http://coxpresdb.jp/data/gene/9914.shtml CleanEx HS_ATP2C2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ATP2C2 DOI 10.1038/nature03187 http://dx.doi.org/10.1038/nature03187 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1074/jbc.M501026200 http://dx.doi.org/10.1074/jbc.M501026200 DOI 10.1093/dnares/5.3.169 http://dx.doi.org/10.1093/dnares/5.3.169 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 EC_number EC:3.6.3.8 http://www.genome.jp/dbget-bin/www_bget?EC:3.6.3.8 EMBL AB014603 http://www.ebi.ac.uk/ena/data/view/AB014603 EMBL AC010551 http://www.ebi.ac.uk/ena/data/view/AC010551 EMBL AC022165 http://www.ebi.ac.uk/ena/data/view/AC022165 EMBL AK300526 http://www.ebi.ac.uk/ena/data/view/AK300526 EMBL AY791884 http://www.ebi.ac.uk/ena/data/view/AY791884 EMBL BX648333 http://www.ebi.ac.uk/ena/data/view/BX648333 EMBL CR749829 http://www.ebi.ac.uk/ena/data/view/CR749829 ENZYME 3.6.3.8 http://enzyme.expasy.org/EC/3.6.3.8 Ensembl ENST00000262429 http://www.ensembl.org/id/ENST00000262429 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000139 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0005388 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005388 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0015410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015410 GO_function GO:0046872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046872 GO_process GO:0006874 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006874 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.20.1110.10 http://www.cathdb.info/version/latest/superfamily/1.20.1110.10 GeneCards ATP2C2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ATP2C2 GeneID 9914 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=9914 H-InvDB HIX0013295 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0013295 H-InvDB HIX0013296 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0013296 HGNC HGNC:29103 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:29103 HOGENOM HOG000265621 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000265621&db=HOGENOM6 HOVERGEN HBG106478 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG106478&db=HOVERGEN HPA HPA052262 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA052262 InParanoid O75185 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O75185 IntAct O75185 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O75185* IntEnz 3.6.3.8 http://www.ebi.ac.uk/intenz/query?cmd=Search&q=3.6.3.8 InterPro IPR001757 http://www.ebi.ac.uk/interpro/entry/IPR001757 InterPro IPR004014 http://www.ebi.ac.uk/interpro/entry/IPR004014 InterPro IPR006068 http://www.ebi.ac.uk/interpro/entry/IPR006068 InterPro IPR006413 http://www.ebi.ac.uk/interpro/entry/IPR006413 InterPro IPR008250 http://www.ebi.ac.uk/interpro/entry/IPR008250 InterPro IPR018303 http://www.ebi.ac.uk/interpro/entry/IPR018303 InterPro IPR023214 http://www.ebi.ac.uk/interpro/entry/IPR023214 InterPro IPR023298 http://www.ebi.ac.uk/interpro/entry/IPR023298 InterPro IPR023299 http://www.ebi.ac.uk/interpro/entry/IPR023299 InterPro IPR030334 http://www.ebi.ac.uk/interpro/entry/IPR030334 Jabion 9914 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=9914 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Gene hsa:9914 http://www.genome.jp/dbget-bin/www_bget?hsa:9914 KEGG_Orthology KO:K01537 http://www.genome.jp/dbget-bin/www_bget?KO:K01537 MIM 613082 http://www.ncbi.nlm.nih.gov/omim/613082 PANTHER PTHR24093:SF220 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24093:SF220 PRINTS PR00120 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00120 PROSITE PS00154 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00154 PSORT swissprot:AT2C2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:AT2C2_HUMAN PSORT-B swissprot:AT2C2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:AT2C2_HUMAN PSORT2 swissprot:AT2C2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:AT2C2_HUMAN Pfam PF00122 http://pfam.xfam.org/family/PF00122 Pfam PF00689 http://pfam.xfam.org/family/PF00689 Pfam PF00690 http://pfam.xfam.org/family/PF00690 PharmGKB PA162377204 http://www.pharmgkb.org/do/serve?objId=PA162377204&objCls=Gene Phobius swissprot:AT2C2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:AT2C2_HUMAN PhylomeDB O75185 http://phylomedb.org/?seqid=O75185 ProteinModelPortal O75185 http://www.proteinmodelportal.org/query/uniprot/O75185 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15616553 http://www.ncbi.nlm.nih.gov/pubmed/15616553 PubMed 15831496 http://www.ncbi.nlm.nih.gov/pubmed/15831496 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 9734811 http://www.ncbi.nlm.nih.gov/pubmed/9734811 Reactome R-HSA-936837 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-936837 RefSeq NP_001273456 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001273456 RefSeq NP_001278383 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001278383 RefSeq NP_055676 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_055676 SMART SM00831 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00831 SMR O75185 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=O75185 STRING 9606.ENSP00000262429 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000262429&targetmode=cogs STRING COG0474 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=COG0474&targetmode=cogs SUPFAM SSF56784 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF56784 SUPFAM SSF81660 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81660 TCDB 3.A.3.2 http://www.tcdb.org/search/result.php?tc=3.A.3.2 TIGRFAMs TIGR01494 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01494 TIGRFAMs TIGR01522 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01522 UCSC uc002fhx http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002fhx&org=rat UniGene Hs.6168 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.6168 UniProtKB AT2C2_HUMAN http://www.uniprot.org/uniprot/AT2C2_HUMAN UniProtKB-AC O75185 http://www.uniprot.org/uniprot/O75185 charge swissprot:AT2C2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:AT2C2_HUMAN eggNOG COG0474 http://eggnogapi.embl.de/nog_data/html/tree/COG0474 eggNOG KOG0202 http://eggnogapi.embl.de/nog_data/html/tree/KOG0202 epestfind swissprot:AT2C2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:AT2C2_HUMAN garnier swissprot:AT2C2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:AT2C2_HUMAN helixturnhelix swissprot:AT2C2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:AT2C2_HUMAN hmoment swissprot:AT2C2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:AT2C2_HUMAN iep swissprot:AT2C2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:AT2C2_HUMAN inforesidue swissprot:AT2C2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:AT2C2_HUMAN neXtProt NX_O75185 http://www.nextprot.org/db/entry/NX_O75185 octanol swissprot:AT2C2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:AT2C2_HUMAN pepcoil swissprot:AT2C2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:AT2C2_HUMAN pepdigest swissprot:AT2C2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:AT2C2_HUMAN pepinfo swissprot:AT2C2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:AT2C2_HUMAN pepnet swissprot:AT2C2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:AT2C2_HUMAN pepstats swissprot:AT2C2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:AT2C2_HUMAN pepwheel swissprot:AT2C2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:AT2C2_HUMAN pepwindow swissprot:AT2C2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:AT2C2_HUMAN sigcleave swissprot:AT2C2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:AT2C2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S35B1_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P78383-1; Sequence=Displayed; Name=2; IsoId=P78383-2; Sequence=VSP_054234; Note=No experimental confirmation available. Ref.2 (BAG57035) sequence is in conflict in position 33 S->P. Contains a phosphoserine at position 15. Contains a phosphoserine at position 29. {ECO 0000244|PubMed 20068231, ECO 0000305}; # AltName S35B1_HUMAN UDP-galactose transporter-related protein 1 # BioGrid 115531 3 # CCDS CCDS11552 -. [P78383-2] # DOMAIN S35B1_HUMAN The di-lysine motif confers endoplasmic reticulum localization for type I membrane proteins. {ECO 0000250}. # Ensembl ENST00000240333 ENSP00000240333; ENSG00000121073. [P78383-2] # ExpressionAtlas P78383 baseline and differential # FUNCTION S35B1_HUMAN Probable sugar transporter. {ECO 0000250}. # GO_component GO:0030173 integral component of Golgi membrane; IBA:GO_Central. # GO_component GO:0030176 integral component of endoplasmic reticulum membrane; IBA:GO_Central. # GO_component GO:0043231 intracellular membrane-bounded organelle; TAS:ProtInc. # GO_function GO:0005459 UDP-galactose transmembrane transporter activity; TAS:ProtInc. # GO_process GO:0006810 transport; TAS:ProtInc. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0043226 organelle # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # Genevisible P78383 HS # HGNC HGNC:20798 SLC35B1 # IntAct P78383 2 # InterPro IPR013657 UAA # KEGG_Brite ko02001 Solute carrier family # MIM 610790 gene # Organism S35B1_HUMAN Homo sapiens (Human) # PIR JC5024 JC5024 # Pfam PF08449 UAA # Proteomes UP000005640 Chromosome 17 # RecName S35B1_HUMAN Solute carrier family 35 member B1 # RefSeq NP_005818 NM_005827.2. [P78383-2] # SIMILARITY Belongs to the nucleotide-sugar transporter family. SLC35B subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION S35B1_HUMAN Endoplasmic reticulum membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # TCDB 2.A.7.11 the drug/metabolite transporter (dmt) superfamily # UCSC uc002iph human. [P78383-1] # eggNOG ENOG410IEAU Eukaryota # eggNOG ENOG4111PY2 LUCA BLAST swissprot:S35B1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S35B1_HUMAN BioCyc ZFISH:ENSG00000121073-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000121073-MONOMER COXPRESdb 10237 http://coxpresdb.jp/data/gene/10237.shtml CleanEx HS_SLC35B1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC35B1 DOI 10.1038/nature04689 http://dx.doi.org/10.1038/nature04689 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.1210303109 http://dx.doi.org/10.1073/pnas.1210303109 DOI 10.1093/oxfordjournals.jbchem.a021523 http://dx.doi.org/10.1093/oxfordjournals.jbchem.a021523 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 EMBL AC015795 http://www.ebi.ac.uk/ena/data/view/AC015795 EMBL AK293563 http://www.ebi.ac.uk/ena/data/view/AK293563 EMBL BC011888 http://www.ebi.ac.uk/ena/data/view/BC011888 EMBL CH471109 http://www.ebi.ac.uk/ena/data/view/CH471109 EMBL D87989 http://www.ebi.ac.uk/ena/data/view/D87989 Ensembl ENST00000240333 http://www.ensembl.org/id/ENST00000240333 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0030173 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030173 GO_component GO:0030176 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030176 GO_component GO:0043231 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043231 GO_function GO:0005459 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005459 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GeneCards SLC35B1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC35B1 GeneID 10237 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=10237 GeneTree ENSGT00530000063090 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000063090 HGNC HGNC:20798 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:20798 HOGENOM HOG000091197 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000091197&db=HOGENOM6 HOVERGEN HBG083706 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG083706&db=HOVERGEN HPA HPA057418 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA057418 InParanoid P78383 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P78383 IntAct P78383 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P78383* InterPro IPR013657 http://www.ebi.ac.uk/interpro/entry/IPR013657 Jabion 10237 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=10237 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:10237 http://www.genome.jp/dbget-bin/www_bget?hsa:10237 KEGG_Orthology KO:K15275 http://www.genome.jp/dbget-bin/www_bget?KO:K15275 MIM 610790 http://www.ncbi.nlm.nih.gov/omim/610790 OMA FVCYFYF http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=FVCYFYF OrthoDB EOG091G0LP3 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0LP3 PSORT swissprot:S35B1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S35B1_HUMAN PSORT-B swissprot:S35B1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S35B1_HUMAN PSORT2 swissprot:S35B1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S35B1_HUMAN Pfam PF08449 http://pfam.xfam.org/family/PF08449 PharmGKB PA134864001 http://www.pharmgkb.org/do/serve?objId=PA134864001&objCls=Gene Phobius swissprot:S35B1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S35B1_HUMAN PhylomeDB P78383 http://phylomedb.org/?seqid=P78383 ProteinModelPortal P78383 http://www.proteinmodelportal.org/query/uniprot/P78383 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16625196 http://www.ncbi.nlm.nih.gov/pubmed/16625196 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 22814378 http://www.ncbi.nlm.nih.gov/pubmed/22814378 PubMed 9010752 http://www.ncbi.nlm.nih.gov/pubmed/9010752 RefSeq NP_005818 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_005818 STRING 9606.ENSP00000240333 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000240333&targetmode=cogs TCDB 2.A.7.11 http://www.tcdb.org/search/result.php?tc=2.A.7.11 UCSC uc002iph http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002iph&org=rat UniGene Hs.154073 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.154073 UniProtKB S35B1_HUMAN http://www.uniprot.org/uniprot/S35B1_HUMAN UniProtKB-AC P78383 http://www.uniprot.org/uniprot/P78383 charge swissprot:S35B1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S35B1_HUMAN eggNOG ENOG410IEAU http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IEAU eggNOG ENOG4111PY2 http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111PY2 epestfind swissprot:S35B1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S35B1_HUMAN garnier swissprot:S35B1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S35B1_HUMAN helixturnhelix swissprot:S35B1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S35B1_HUMAN hmoment swissprot:S35B1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S35B1_HUMAN iep swissprot:S35B1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S35B1_HUMAN inforesidue swissprot:S35B1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S35B1_HUMAN neXtProt NX_P78383 http://www.nextprot.org/db/entry/NX_P78383 octanol swissprot:S35B1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S35B1_HUMAN pepcoil swissprot:S35B1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S35B1_HUMAN pepdigest swissprot:S35B1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S35B1_HUMAN pepinfo swissprot:S35B1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S35B1_HUMAN pepnet swissprot:S35B1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S35B1_HUMAN pepstats swissprot:S35B1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S35B1_HUMAN pepwheel swissprot:S35B1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S35B1_HUMAN pepwindow swissprot:S35B1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S35B1_HUMAN sigcleave swissprot:S35B1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S35B1_HUMAN ## Database ID URL or Descriptions # AltName CTSR3_HUMAN Ca(v)-like protein # AltName CTSR3_HUMAN One-repeat calcium channel-like protein # ENZYME REGULATION CTSR3_HUMAN The CatSper calcium channel is indirectly activated by extracellular progesterone and prostaglandins following the sequence progesterone > PGF1-alpha = PGE1 > PGA1 > PGE2 >> PGD2 (PubMed 21412338, PubMed 21412339, PubMed 26989199). The CatSper calcium channel is directly inhibited by endocannabinoid 2-arachidonoylglycerol (2AG) (PubMed 26989199). Indirect activation by progesterone takes place via the following mechanism progesterone binds and activates the acylglycerol lipase ABHD2, which in turn mediates hydrolysis of 2AG inhibitor, relieving inhibition of the CatSper channel (PubMed 26989199). The primary effect of progesterone activation is to shift voltage dependence towards more physiological, negative membrane potentials; it is not mediated by metabotropic receptors and second messengers (PubMed 21412338, PubMed 21412339). Sperm capacitation enhances the effect of progesterone by providing additional negative shift. Also activated by the elevation of intracellular pH (PubMed 21412338, PubMed 21412339). {ECO 0000269|PubMed 21412338, ECO 0000269|PubMed 21412339, ECO 0000269|PubMed 26989199}. # Ensembl ENST00000282611 ENSP00000282611; ENSG00000152705 # FUNCTION CTSR3_HUMAN Voltage-gated calcium channel that plays a central role in calcium-dependent physiological responses essential for successful fertilization, such as sperm hyperactivation, acrosome reaction and chemotaxis towards the oocyte. {ECO 0000269|PubMed 21412338, ECO 0000269|PubMed 21412339}. # GO_component GO:0001669 acrosomal vesicle; IEA:Ensembl. # GO_component GO:0005783 endoplasmic reticulum; IEA:Ensembl. # GO_component GO:0005886 plasma membrane; IBA:GO_Central. # GO_component GO:0031514 motile cilium; IEA:UniProtKB-KW. # GO_component GO:0036128 CatSper complex; ISS:UniProtKB. # GO_function GO:0005245 voltage-gated calcium channel activity; IEA:Ensembl. # GO_function GO:0005261 cation channel activity; IBA:GO_Central. # GO_process GO:0006814 sodium ion transport; IEA:Ensembl. # GO_process GO:0006816 calcium ion transport; IBA:GO_Central. # GO_process GO:0007275 multicellular organism development; IEA:UniProtKB-KW. # GO_process GO:0030317 flagellated sperm motility; IEA:Ensembl. # GO_process GO:0032570 response to progesterone; TAS:Reactome. # GO_process GO:0034220 ion transmembrane transport; IBA:GO_Central. # GO_process GO:0035036 sperm-egg recognition; TAS:Reactome. # GO_process GO:0048240 sperm capacitation; IEA:Ensembl. # GO_process GO:0086010 membrane depolarization during action potential; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0005929 cilium # GOslim_component GO:0031410 cytoplasmic vesicle # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0021700 developmental maturation # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0048870 cell motility # GOslim_process GO:0055085 transmembrane transport # Genevisible Q86XQ3 HS # HGNC HGNC:20819 CATSPER3 # InterPro IPR005821 Ion_trans_dom # MIM 609120 gene # Organism CTSR3_HUMAN Homo sapiens (Human) # Pfam PF00520 Ion_trans # Proteomes UP000005640 Chromosome 5 # Reactome R-HSA-1300642 Sperm Motility And Taxes # RecName CTSR3_HUMAN Cation channel sperm-associated protein 3 # RefSeq NP_821138 NM_178019.2 # SIMILARITY Belongs to the cation channel sperm-associated (TC 1.A.1.19) family. {ECO 0000305}. # SUBCELLULAR LOCATION CTSR3_HUMAN Cell projection, cilium, flagellum membrane; Multi-pass membrane protein. Note=Specifically located in the principal piece of sperm tail. # SUBUNIT Heterotetramer; possibly composed of CATSPER1, CATSPER2, CATSPER3 and CATSPER4 (Potential). Component of the CatSper complex. Interacts with CATSPER1 (By similarity). {ECO:0000250, ECO 0000305}. # TCDB 1.A.1.19 the voltage-gated ion channel (vic) superfamily # TISSUE SPECIFICITY CTSR3_HUMAN Testis-specific. {ECO 0000269|PubMed 12646162, ECO 0000269|PubMed 12932298, ECO 0000269|PubMed 17347248}. # UCSC uc003lag human # eggNOG ENOG410IF9A Eukaryota # eggNOG ENOG4111SVN LUCA BLAST swissprot:CTSR3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CTSR3_HUMAN COXPRESdb 347732 http://coxpresdb.jp/data/gene/347732.shtml CleanEx HS_CATSPER3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CATSPER3 DOI 10.1016/S0006-291X(03)00276-6 http://dx.doi.org/10.1016/S0006-291X(03)00276-6 DOI 10.1038/nature09767 http://dx.doi.org/10.1038/nature09767 DOI 10.1038/nature09769 http://dx.doi.org/10.1038/nature09769 DOI 10.1093/molehr/gam009 http://dx.doi.org/10.1093/molehr/gam009 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.aad6887 http://dx.doi.org/10.1126/science.aad6887 DOI 10.1186/1477-7827-1-53 http://dx.doi.org/10.1186/1477-7827-1-53 EMBL AF432876 http://www.ebi.ac.uk/ena/data/view/AF432876 EMBL AY156951 http://www.ebi.ac.uk/ena/data/view/AY156951 EMBL BC101692 http://www.ebi.ac.uk/ena/data/view/BC101692 EMBL BC110384 http://www.ebi.ac.uk/ena/data/view/BC110384 EMBL BN000272 http://www.ebi.ac.uk/ena/data/view/BN000272 Ensembl ENST00000282611 http://www.ensembl.org/id/ENST00000282611 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0001669 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001669 GO_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0031514 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031514 GO_component GO:0036128 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0036128 GO_function GO:0005245 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005245 GO_function GO:0005261 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005261 GO_process GO:0006814 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006814 GO_process GO:0006816 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006816 GO_process GO:0007275 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007275 GO_process GO:0030317 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030317 GO_process GO:0032570 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032570 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0035036 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035036 GO_process GO:0048240 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048240 GO_process GO:0086010 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086010 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0005929 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005929 GOslim_component GO:0031410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0021700 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021700 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0048870 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048870 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards CATSPER3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CATSPER3 GeneID 347732 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=347732 GeneTree ENSGT00760000119325 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119325 HGNC HGNC:20819 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:20819 HOGENOM HOG000112052 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000112052&db=HOGENOM6 HOVERGEN HBG099875 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG099875&db=HOVERGEN InParanoid Q86XQ3 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q86XQ3 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 Jabion 347732 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=347732 KEGG_Gene hsa:347732 http://www.genome.jp/dbget-bin/www_bget?hsa:347732 MIM 609120 http://www.ncbi.nlm.nih.gov/omim/609120 OMA YWKDGYN http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=YWKDGYN OrthoDB EOG091G0D3H http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0D3H PSORT swissprot:CTSR3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CTSR3_HUMAN PSORT-B swissprot:CTSR3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CTSR3_HUMAN PSORT2 swissprot:CTSR3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CTSR3_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 PharmGKB PA134911185 http://www.pharmgkb.org/do/serve?objId=PA134911185&objCls=Gene Phobius swissprot:CTSR3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CTSR3_HUMAN PhylomeDB Q86XQ3 http://phylomedb.org/?seqid=Q86XQ3 ProteinModelPortal Q86XQ3 http://www.proteinmodelportal.org/query/uniprot/Q86XQ3 PubMed 12646162 http://www.ncbi.nlm.nih.gov/pubmed/12646162 PubMed 12932298 http://www.ncbi.nlm.nih.gov/pubmed/12932298 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 17347248 http://www.ncbi.nlm.nih.gov/pubmed/17347248 PubMed 21412338 http://www.ncbi.nlm.nih.gov/pubmed/21412338 PubMed 21412339 http://www.ncbi.nlm.nih.gov/pubmed/21412339 PubMed 26989199 http://www.ncbi.nlm.nih.gov/pubmed/26989199 Reactome R-HSA-1300642 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1300642 RefSeq NP_821138 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_821138 STRING 9606.ENSP00000282611 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000282611&targetmode=cogs TCDB 1.A.1.19 http://www.tcdb.org/search/result.php?tc=1.A.1.19 UCSC uc003lag http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003lag&org=rat UniGene Hs.631804 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.631804 UniProtKB CTSR3_HUMAN http://www.uniprot.org/uniprot/CTSR3_HUMAN UniProtKB-AC Q86XQ3 http://www.uniprot.org/uniprot/Q86XQ3 charge swissprot:CTSR3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CTSR3_HUMAN eggNOG ENOG410IF9A http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IF9A eggNOG ENOG4111SVN http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111SVN epestfind swissprot:CTSR3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CTSR3_HUMAN garnier swissprot:CTSR3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CTSR3_HUMAN helixturnhelix swissprot:CTSR3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CTSR3_HUMAN hmoment swissprot:CTSR3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CTSR3_HUMAN iep swissprot:CTSR3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CTSR3_HUMAN inforesidue swissprot:CTSR3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CTSR3_HUMAN neXtProt NX_Q86XQ3 http://www.nextprot.org/db/entry/NX_Q86XQ3 octanol swissprot:CTSR3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CTSR3_HUMAN pepcoil swissprot:CTSR3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CTSR3_HUMAN pepdigest swissprot:CTSR3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CTSR3_HUMAN pepinfo swissprot:CTSR3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CTSR3_HUMAN pepnet swissprot:CTSR3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CTSR3_HUMAN pepstats swissprot:CTSR3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CTSR3_HUMAN pepwheel swissprot:CTSR3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CTSR3_HUMAN pepwindow swissprot:CTSR3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CTSR3_HUMAN sigcleave swissprot:CTSR3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CTSR3_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS NPAL2_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9H841-1; Sequence=Displayed; Name=2; IsoId=Q9H841-2; Sequence=VSP_056271; Note=No experimental confirmation available.; # CCDS CCDS6278 -. [Q9H841-1] # CCDS CCDS83310 -. [Q9H841-2] # ChiTaRS NIPAL2 human # Ensembl ENST00000341166 ENSP00000339256; ENSG00000104361. [Q9H841-1] # Ensembl ENST00000430223 ENSP00000407087; ENSG00000104361. [Q9H841-2] # GO_component GO:0016020 membrane; IBA:GO_Central. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0015095 magnesium ion transmembrane transporter activity; IEA:InterPro. # GO_process GO:0015693 magnesium ion transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # Genevisible Q9H841 HS # HGNC HGNC:25854 NIPAL2 # InterPro IPR008521 Mg_trans_NIPA # Organism NPAL2_HUMAN Homo sapiens (Human) # PANTHER PTHR12570 PTHR12570 # Pfam PF05653 Mg_trans_NIPA # Proteomes UP000005640 Chromosome 8 # Reactome R-HSA-5223345 Miscellaneous transport and binding events # RecName NPAL2_HUMAN NIPA-like protein 2 # RefSeq NP_001308564 NM_001321635.1. [Q9H841-2] # RefSeq NP_001308565 NM_001321636.1 # RefSeq NP_079035 NM_024759.2. [Q9H841-1] # SIMILARITY Belongs to the NIPA family. {ECO 0000305}. # SUBCELLULAR LOCATION NPAL2_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # UCSC uc003yil human. [Q9H841-1] # eggNOG ENOG410XNR8 LUCA # eggNOG KOG2922 Eukaryota BLAST swissprot:NPAL2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:NPAL2_HUMAN BioCyc ZFISH:ENSG00000104361-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000104361-MONOMER COXPRESdb 79815 http://coxpresdb.jp/data/gene/79815.shtml CleanEx HS_NPAL2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_NPAL2 DOI 10.1038/nature04406 http://dx.doi.org/10.1038/nature04406 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AK024017 http://www.ebi.ac.uk/ena/data/view/AK024017 EMBL AP003438 http://www.ebi.ac.uk/ena/data/view/AP003438 EMBL AP003439 http://www.ebi.ac.uk/ena/data/view/AP003439 EMBL BC132687 http://www.ebi.ac.uk/ena/data/view/BC132687 EMBL BC144055 http://www.ebi.ac.uk/ena/data/view/BC144055 Ensembl ENST00000341166 http://www.ensembl.org/id/ENST00000341166 Ensembl ENST00000430223 http://www.ensembl.org/id/ENST00000430223 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0015095 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015095 GO_process GO:0015693 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015693 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GeneCards NIPAL2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=NIPAL2 GeneID 79815 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=79815 GeneTree ENSGT00550000074395 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074395 HGNC HGNC:25854 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:25854 HOGENOM HOG000230865 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000230865&db=HOGENOM6 HOVERGEN HBG069791 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG069791&db=HOVERGEN HPA HPA071759 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA071759 InParanoid Q9H841 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9H841 InterPro IPR008521 http://www.ebi.ac.uk/interpro/entry/IPR008521 Jabion 79815 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=79815 KEGG_Gene hsa:79815 http://www.genome.jp/dbget-bin/www_bget?hsa:79815 OMA GNIPGKQ http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=GNIPGKQ OrthoDB EOG091G09Z6 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G09Z6 PANTHER PTHR12570 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12570 PSORT swissprot:NPAL2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:NPAL2_HUMAN PSORT-B swissprot:NPAL2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:NPAL2_HUMAN PSORT2 swissprot:NPAL2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:NPAL2_HUMAN Pfam PF05653 http://pfam.xfam.org/family/PF05653 PharmGKB PA164723926 http://www.pharmgkb.org/do/serve?objId=PA164723926&objCls=Gene Phobius swissprot:NPAL2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:NPAL2_HUMAN PhylomeDB Q9H841 http://phylomedb.org/?seqid=Q9H841 ProteinModelPortal Q9H841 http://www.proteinmodelportal.org/query/uniprot/Q9H841 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16421571 http://www.ncbi.nlm.nih.gov/pubmed/16421571 Reactome R-HSA-5223345 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5223345 RefSeq NP_001308564 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001308564 RefSeq NP_001308565 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001308565 RefSeq NP_079035 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_079035 STRING 9606.ENSP00000339256 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000339256&targetmode=cogs UCSC uc003yil http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003yil&org=rat UniGene Hs.309489 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.309489 UniGene Hs.732714 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.732714 UniProtKB NPAL2_HUMAN http://www.uniprot.org/uniprot/NPAL2_HUMAN UniProtKB-AC Q9H841 http://www.uniprot.org/uniprot/Q9H841 charge swissprot:NPAL2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:NPAL2_HUMAN eggNOG ENOG410XNR8 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XNR8 eggNOG KOG2922 http://eggnogapi.embl.de/nog_data/html/tree/KOG2922 epestfind swissprot:NPAL2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:NPAL2_HUMAN garnier swissprot:NPAL2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:NPAL2_HUMAN helixturnhelix swissprot:NPAL2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:NPAL2_HUMAN hmoment swissprot:NPAL2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:NPAL2_HUMAN iep swissprot:NPAL2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:NPAL2_HUMAN inforesidue swissprot:NPAL2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:NPAL2_HUMAN neXtProt NX_Q9H841 http://www.nextprot.org/db/entry/NX_Q9H841 octanol swissprot:NPAL2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:NPAL2_HUMAN pepcoil swissprot:NPAL2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:NPAL2_HUMAN pepdigest swissprot:NPAL2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:NPAL2_HUMAN pepinfo swissprot:NPAL2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:NPAL2_HUMAN pepnet swissprot:NPAL2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:NPAL2_HUMAN pepstats swissprot:NPAL2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:NPAL2_HUMAN pepwheel swissprot:NPAL2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:NPAL2_HUMAN pepwindow swissprot:NPAL2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:NPAL2_HUMAN sigcleave swissprot:NPAL2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:NPAL2_HUMAN ## Database ID URL or Descriptions # AltName SC5A8_HUMAN Apical iodide transporter # AltName SC5A8_HUMAN Electrogenic sodium monocarboxylate cotransporter # AltName SC5A8_HUMAN Sodium iodide-related cotransporter # AltName SC5A8_HUMAN Solute carrier family 5 member 8 # BIOPHYSICOCHEMICAL PROPERTIES SC5A8_HUMAN Kinetic parameters KM=1442 uM for beta-D-hydroxybutyate {ECO 0000269|PubMed 16805814}; KM=2327 uM for beta-L-hydroxybutyate {ECO 0000269|PubMed 16805814}; KM=1088 uM for D-lactate {ECO 0000269|PubMed 16805814}; KM=184 uM for L-lactate {ECO 0000269|PubMed 16805814}; KM=387 uM for pyruvate {ECO 0000269|PubMed 16805814}; KM=213 uM for acetoacetate {ECO 0000269|PubMed 16805814}; KM=209 uM for alpha-ketoisocaproate {ECO 0000269|PubMed 16805814}; # BioGrid 127763 21 # DrugBank DB00627 Niacin # DrugBank DB08872 gabapentin enacarbil # Ensembl ENST00000536262 ENSP00000445340; ENSG00000256870 # Ensembl ENST00000572861 ENSP00000461697; ENSG00000262217 # FUNCTION SC5A8_HUMAN Acts as an electrogenic sodium (Na(+)) and chloride (Cl-)-dependent sodium-coupled solute transporter, including transport of monocarboxylates (short-chain fatty acids including L-lactate, D-lactate, pyruvate, acetate, propionate, valerate and butyrate), lactate, mocarboxylate drugs (nicotinate, benzoate, salicylate and 5-aminosalicylate) and ketone bodies (beta-D- hydroxybutyrate, acetoacetate and alpha-ketoisocaproate), with a Na(+) substrate stoichiometry of between 4 1 and 2 1. Catalyzes passive carrier mediated diffusion of iodide. Mediates iodide transport from the thyrocyte into the colloid lumen through the apical membrane. May be responsible for the absorption of D- lactate and monocarboxylate drugs from the intestinal tract. Acts as a tumor suppressor, suppressing colony formation in colon cancer, prostate cancer and glioma cell lines. May play a critical role in the entry of L-lactate and ketone bodies into neurons by a process driven by an electrochemical Na(+) gradient and hence contribute to the maintenance of the energy status and function of neurons. {ECO 0000269|PubMed 12107270, ECO 0000269|PubMed 12829793, ECO 0000269|PubMed 14966140, ECO 0000269|PubMed 15090606, ECO 0000269|PubMed 15361710, ECO 0000269|PubMed 15867356, ECO 0000269|PubMed 16729224, ECO 0000269|PubMed 16805814, ECO 0000269|PubMed 17178845, ECO 0000269|PubMed 17245649, ECO 0000269|PubMed 18037591}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0016324 apical plasma membrane; IEA:UniProtKB-SubCell. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0008028 monocarboxylic acid transmembrane transporter activity; TAS:Reactome. # GO_function GO:0015293 symporter activity; IBA:GO_Central. # GO_function GO:0022803 passive transmembrane transporter activity; TAS:Reactome. # GO_process GO:0006811 ion transport; TAS:Reactome. # GO_process GO:0006814 sodium ion transport; IEA:UniProtKB-KW. # GO_process GO:0006915 apoptotic process; IEA:UniProtKB-KW. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008219 cell death # Genevisible Q8N695 HS # HGNC HGNC:19119 SLC5A8 # INDUCTION SC5A8_HUMAN Down-regulated in some primary cancers; due to aberrant methylation in primary colon cancers, astrocytomas and oligodendrogliomas as well as in cancers of the colon, prostate and gastric regions, and glial cell lines. Expression reactivated on treatment with a demethylating drug, 5-azacytidine. {ECO 0000269|PubMed 12829793, ECO 0000269|PubMed 15361710, ECO 0000269|PubMed 15867356, ECO 0000269|PubMed 18037591}. # InterPro IPR001734 Na/solute_symporter # KEGG_Brite ko02001 Solute carrier family # MIM 608044 gene # MISCELLANEOUS SC5A8_HUMAN Increase of iodide influx inhibited by addition of perchlorate (NaClO(4)), a competitive inhibitor of iodide uptake catalyzed by sodium iodide symporter (NIS). Cotransport of monocarboxylates and nicotinate strongly inhibited by probenecid, nonsteroid anti-inflammatory drugs (ibuprofen, fenoprofen, ketprofen, naproxen) in a Na(+)-dependent manner or by prolonged exposure to external concentrations of monocarboxylates. # Organism SC5A8_HUMAN Homo sapiens (Human) # PANTHER PTHR11819 PTHR11819; 2 # PROSITE PS50283 NA_SOLUT_SYMP_3 # Pfam PF00474 SSF # Proteomes UP000005640 Chromosome 12 # Reactome R-HSA-428643 Organic anion transporters # RecName SC5A8_HUMAN Sodium-coupled monocarboxylate transporter 1 # RefSeq NP_666018 NM_145913.3 # SIMILARITY Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family. {ECO 0000255}. # SUBCELLULAR LOCATION SC5A8_HUMAN Apical cell membrane {ECO 0000269|PubMed 12107270, ECO 0000269|PubMed 15001644, ECO 0000269|PubMed 17245649}; Multi-pass membrane protein {ECO 0000269|PubMed 12107270, ECO 0000269|PubMed 15001644, ECO 0000269|PubMed 17245649}. Note=Expressed at the apical membrane of normal tall thyrocytes and of colonic epithelial cells. {ECO 0000269|PubMed 12107270, ECO 0000269|PubMed 15001644, ECO 0000269|PubMed 17245649}. # TCDB 2.A.21.5:the solute sodium symporter (sss) family # TIGRFAMs TIGR00813 sss # TISSUE SPECIFICITY SC5A8_HUMAN Expressed in normal thyroid, localized at the apical pole of thyroid cells facing the colloid lumen, but expression profoundly decreased in thyroid carcinomas. Expressed in normal colon but absent in colon aberrant crypt foci and colon cancers. Present in normal kidney cortex, brain, prostate, gastric mucosa and breast tissue but was significantly down-regulated in primary gliomas, gastric cancer, prostate tumors and breast tumors. {ECO 0000269|PubMed 12107270, ECO 0000269|PubMed 12829793, ECO 0000269|PubMed 14966140, ECO 0000269|PubMed 15001644, ECO 0000269|PubMed 15090606, ECO 0000269|PubMed 15361710, ECO 0000269|PubMed 15867356, ECO 0000269|PubMed 17178845, ECO 0000269|PubMed 17245649, ECO 0000269|PubMed 18037591}. # UCSC uc001thz human # WEB RESOURCE SC5A8_HUMAN Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http //atlasgeneticsoncology.org/Genes/SLC5A8ID44089ch12q23.html"; # eggNOG COG0591 LUCA # eggNOG KOG2349 Eukaryota BLAST swissprot:SC5A8_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SC5A8_HUMAN BioCyc ZFISH:ENSG00000139357-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000139357-MONOMER COXPRESdb 160728 http://coxpresdb.jp/data/gene/160728.shtml CleanEx HS_SLC5A8 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC5A8 DOI 10.1007/s11095-006-0023-1 http://dx.doi.org/10.1007/s11095-006-0023-1 DOI 10.1007/s11095-006-9176-1 http://dx.doi.org/10.1007/s11095-006-9176-1 DOI 10.1016/j.cdp.2007.09.002 http://dx.doi.org/10.1016/j.cdp.2007.09.002 DOI 10.1038/nature04569 http://dx.doi.org/10.1038/nature04569 DOI 10.1073/pnas.1430846100 http://dx.doi.org/10.1073/pnas.1430846100 DOI 10.1074/jbc.C400059200 http://dx.doi.org/10.1074/jbc.C400059200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1471-4159.2006.03878.x http://dx.doi.org/10.1111/j.1471-4159.2006.03878.x DOI 10.1113/jphysiol.2004.063859 http://dx.doi.org/10.1113/jphysiol.2004.063859 DOI 10.1158/0008-5472.CAN-05-0048 http://dx.doi.org/10.1158/0008-5472.CAN-05-0048 DOI 10.1158/0008-5472.CAN-06-1950 http://dx.doi.org/10.1158/0008-5472.CAN-06-1950 DOI 10.1159/000079145 http://dx.doi.org/10.1159/000079145 DOI 10.1210/jc.2003-030542 http://dx.doi.org/10.1210/jc.2003-030542 DOI 10.1210/jcem.87.7.8797 http://dx.doi.org/10.1210/jcem.87.7.8797 DrugBank DB00627 http://www.drugbank.ca/drugs/DB00627 DrugBank DB08872 http://www.drugbank.ca/drugs/DB08872 EMBL AC079953 http://www.ebi.ac.uk/ena/data/view/AC079953 EMBL AF536216 http://www.ebi.ac.uk/ena/data/view/AF536216 EMBL AF536217 http://www.ebi.ac.uk/ena/data/view/AF536217 EMBL AY081220 http://www.ebi.ac.uk/ena/data/view/AY081220 EMBL BC110492 http://www.ebi.ac.uk/ena/data/view/BC110492 EMBL CH471054 http://www.ebi.ac.uk/ena/data/view/CH471054 Ensembl ENST00000536262 http://www.ensembl.org/id/ENST00000536262 Ensembl ENST00000572861 http://www.ensembl.org/id/ENST00000572861 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0008028 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008028 GO_function GO:0015293 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015293 GO_function GO:0022803 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022803 GO_process GO:0006811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006811 GO_process GO:0006814 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006814 GO_process GO:0006915 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006915 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008219 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008219 GeneCards SLC5A8 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC5A8 GeneID 160728 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=160728 GeneTree ENSGT00760000118955 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118955 H-InvDB HIX0036731 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0036731 HGNC HGNC:19119 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:19119 HOGENOM HOG000261662 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000261662&db=HOGENOM6 HOVERGEN HBG057280 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG057280&db=HOVERGEN InParanoid Q8N695 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8N695 IntAct Q8N695 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q8N695* InterPro IPR001734 http://www.ebi.ac.uk/interpro/entry/IPR001734 Jabion 160728 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=160728 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:160728 http://www.genome.jp/dbget-bin/www_bget?hsa:160728 KEGG_Orthology KO:K14388 http://www.genome.jp/dbget-bin/www_bget?KO:K14388 MIM 608044 http://www.ncbi.nlm.nih.gov/omim/608044 OMA DILQDFP http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=DILQDFP OrthoDB EOG091G07OC http://cegg.unige.ch/orthodb/results?searchtext=EOG091G07OC PANTHER PTHR11819 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11819 PROSITE PS50283 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50283 PSORT swissprot:SC5A8_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SC5A8_HUMAN PSORT-B swissprot:SC5A8_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SC5A8_HUMAN PSORT2 swissprot:SC5A8_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SC5A8_HUMAN Pfam PF00474 http://pfam.xfam.org/family/PF00474 PharmGKB PA134989874 http://www.pharmgkb.org/do/serve?objId=PA134989874&objCls=Gene Phobius swissprot:SC5A8_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SC5A8_HUMAN PhylomeDB Q8N695 http://phylomedb.org/?seqid=Q8N695 ProteinModelPortal Q8N695 http://www.proteinmodelportal.org/query/uniprot/Q8N695 PubMed 12107270 http://www.ncbi.nlm.nih.gov/pubmed/12107270 PubMed 12829793 http://www.ncbi.nlm.nih.gov/pubmed/12829793 PubMed 14966140 http://www.ncbi.nlm.nih.gov/pubmed/14966140 PubMed 15001644 http://www.ncbi.nlm.nih.gov/pubmed/15001644 PubMed 15090606 http://www.ncbi.nlm.nih.gov/pubmed/15090606 PubMed 15361710 http://www.ncbi.nlm.nih.gov/pubmed/15361710 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15867356 http://www.ncbi.nlm.nih.gov/pubmed/15867356 PubMed 16541075 http://www.ncbi.nlm.nih.gov/pubmed/16541075 PubMed 16729224 http://www.ncbi.nlm.nih.gov/pubmed/16729224 PubMed 16805814 http://www.ncbi.nlm.nih.gov/pubmed/16805814 PubMed 17178845 http://www.ncbi.nlm.nih.gov/pubmed/17178845 PubMed 17245649 http://www.ncbi.nlm.nih.gov/pubmed/17245649 PubMed 18037591 http://www.ncbi.nlm.nih.gov/pubmed/18037591 Reactome R-HSA-428643 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-428643 RefSeq NP_666018 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_666018 STRING 9606.ENSP00000445340 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000445340&targetmode=cogs TCDB 2.A.21.5 http://www.tcdb.org/search/result.php?tc=2.A.21.5 TIGRFAMs TIGR00813 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00813 UCSC uc001thz http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001thz&org=rat UniGene Hs.444536 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.444536 UniProtKB SC5A8_HUMAN http://www.uniprot.org/uniprot/SC5A8_HUMAN UniProtKB-AC Q8N695 http://www.uniprot.org/uniprot/Q8N695 charge swissprot:SC5A8_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SC5A8_HUMAN eggNOG COG0591 http://eggnogapi.embl.de/nog_data/html/tree/COG0591 eggNOG KOG2349 http://eggnogapi.embl.de/nog_data/html/tree/KOG2349 epestfind swissprot:SC5A8_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SC5A8_HUMAN garnier swissprot:SC5A8_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SC5A8_HUMAN helixturnhelix swissprot:SC5A8_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SC5A8_HUMAN hmoment swissprot:SC5A8_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SC5A8_HUMAN iep swissprot:SC5A8_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SC5A8_HUMAN inforesidue swissprot:SC5A8_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SC5A8_HUMAN neXtProt NX_Q8N695 http://www.nextprot.org/db/entry/NX_Q8N695 octanol swissprot:SC5A8_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SC5A8_HUMAN pepcoil swissprot:SC5A8_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SC5A8_HUMAN pepdigest swissprot:SC5A8_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SC5A8_HUMAN pepinfo swissprot:SC5A8_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SC5A8_HUMAN pepnet swissprot:SC5A8_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SC5A8_HUMAN pepstats swissprot:SC5A8_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SC5A8_HUMAN pepwheel swissprot:SC5A8_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SC5A8_HUMAN pepwindow swissprot:SC5A8_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SC5A8_HUMAN sigcleave swissprot:SC5A8_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SC5A8_HUMAN ## Database ID URL or Descriptions # AltName CXG1_HUMAN Connexin-45 # AltName CXG1_HUMAN Gap junction alpha-7 protein # BioGrid 115363 15 # ChiTaRS GJC1 human # Ensembl ENST00000330514 ENSP00000333193; ENSG00000182963 # Ensembl ENST00000426548 ENSP00000411528; ENSG00000182963 # Ensembl ENST00000590758 ENSP00000466339; ENSG00000182963 # Ensembl ENST00000592524 ENSP00000467201; ENSG00000182963 # ExpressionAtlas P36383 baseline and differential # FUNCTION CXG1_HUMAN One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell. # GO_component GO:0005789 endoplasmic reticulum membrane; TAS:Reactome. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005921 gap junction; TAS:ProtInc. # GO_component GO:0005922 connexin complex; IEA:Ensembl. # GO_component GO:0014704 intercalated disc; TAS:BHF-UCL. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0005216 ion channel activity; IEA:Ensembl. # GO_function GO:0005243 gap junction channel activity; IEA:Ensembl. # GO_process GO:0001570 vasculogenesis; IEA:Ensembl. # GO_process GO:0006810 transport; NAS:ProtInc. # GO_process GO:0006936 muscle contraction; TAS:ProtInc. # GO_process GO:0007043 cell-cell junction assembly; TAS:ProtInc. # GO_process GO:0007268 chemical synaptic transmission; IEA:Ensembl. # GO_process GO:0007601 visual perception; IEA:Ensembl. # GO_process GO:0016264 gap junction assembly; TAS:Reactome. # GO_process GO:0048468 cell development; IEA:Ensembl. # GO_process GO:0048738 cardiac muscle tissue development; IEA:Ensembl. # GO_process GO:0086014 atrial cardiac muscle cell action potential; TAS:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043234 protein complex # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # GOslim_process GO:0022607 cellular component assembly # GOslim_process GO:0030154 cell differentiation # GOslim_process GO:0034330 cell junction organization # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0050877 neurological system process # Genevisible P36383 HS # HGNC HGNC:4280 GJC1 # InterPro IPR000500 Connexin # InterPro IPR002265 Connexin45 # InterPro IPR013092 Connexin_N # InterPro IPR017990 Connexin_CS # InterPro IPR019570 Connexin_CCC # MIM 608655 gene # Organism CXG1_HUMAN Homo sapiens (Human) # PANTHER PTHR11984 PTHR11984; 2 # PDB 3SHW X-ray; 2.90 A; B=387-396 # PIR I38430 I38430 # PRINTS PR00206 CONNEXIN # PRINTS PR01136 CONNEXINA6 # PROSITE PS00407 CONNEXINS_1 # PROSITE PS00408 CONNEXINS_2 # Pfam PF00029 Connexin # Proteomes UP000005640 Chromosome 17 # Reactome R-HSA-112303 Electric Transmission Across Gap Junctions # Reactome R-HSA-190861 Gap junction assembly # RecName CXG1_HUMAN Gap junction gamma-1 protein # RefSeq NP_001073852 NM_001080383.1 # RefSeq NP_005488 NM_005497.3 # RefSeq XP_005256977 XM_005256920.1 # RefSeq XP_005256978 XM_005256921.1 # SIMILARITY Belongs to the connexin family. Gamma-type subfamily. {ECO 0000305}. # SMART SM00037 CNX # SMART SM01089 Connexin_CCC # SUBCELLULAR LOCATION CXG1_HUMAN Cell membrane; Multi-pass membrane protein. Cell junction, gap junction. # SUBUNIT A connexon is composed of a hexamer of connexins. Interacts with CNST (By similarity). {ECO 0000250}. # TCDB 1.A.24.2 the gap junction-forming connexin (connexin) family # UCSC uc002ihj human # eggNOG ENOG410IFK3 Eukaryota # eggNOG ENOG410Z7PN LUCA BLAST swissprot:CXG1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CXG1_HUMAN BioCyc ZFISH:G66-33196-MONOMER http://biocyc.org/getid?id=ZFISH:G66-33196-MONOMER COXPRESdb 10052 http://coxpresdb.jp/data/gene/10052.shtml CleanEx HS_GJC1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_GJC1 DOI 10.1006/jmcc.1994.1103 http://dx.doi.org/10.1006/jmcc.1994.1103 DOI 10.1038/nature04689 http://dx.doi.org/10.1038/nature04689 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AC005180 http://www.ebi.ac.uk/ena/data/view/AC005180 EMBL AK124339 http://www.ebi.ac.uk/ena/data/view/AK124339 EMBL BC096213 http://www.ebi.ac.uk/ena/data/view/BC096213 EMBL BC096214 http://www.ebi.ac.uk/ena/data/view/BC096214 EMBL BC096215 http://www.ebi.ac.uk/ena/data/view/BC096215 EMBL BC096216 http://www.ebi.ac.uk/ena/data/view/BC096216 EMBL U03493 http://www.ebi.ac.uk/ena/data/view/U03493 Ensembl ENST00000330514 http://www.ensembl.org/id/ENST00000330514 Ensembl ENST00000426548 http://www.ensembl.org/id/ENST00000426548 Ensembl ENST00000590758 http://www.ensembl.org/id/ENST00000590758 Ensembl ENST00000592524 http://www.ensembl.org/id/ENST00000592524 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005789 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005789 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005921 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005921 GO_component GO:0005922 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005922 GO_component GO:0014704 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014704 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005216 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005216 GO_function GO:0005243 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005243 GO_process GO:0001570 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001570 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0006936 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006936 GO_process GO:0007043 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007043 GO_process GO:0007268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007268 GO_process GO:0007601 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007601 GO_process GO:0016264 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016264 GO_process GO:0048468 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048468 GO_process GO:0048738 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048738 GO_process GO:0086014 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086014 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0022607 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022607 GOslim_process GO:0030154 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030154 GOslim_process GO:0034330 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034330 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GeneCards GJC1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=GJC1 GeneID 10052 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=10052 GeneTree ENSGT00840000129674 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00840000129674 HGNC HGNC:4280 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:4280 HOGENOM HOG000231126 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231126&db=HOGENOM6 HOVERGEN HBG009576 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG009576&db=HOVERGEN HPA CAB073417 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB073417 InParanoid P36383 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P36383 IntAct P36383 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P36383* InterPro IPR000500 http://www.ebi.ac.uk/interpro/entry/IPR000500 InterPro IPR002265 http://www.ebi.ac.uk/interpro/entry/IPR002265 InterPro IPR013092 http://www.ebi.ac.uk/interpro/entry/IPR013092 InterPro IPR017990 http://www.ebi.ac.uk/interpro/entry/IPR017990 InterPro IPR019570 http://www.ebi.ac.uk/interpro/entry/IPR019570 Jabion 10052 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=10052 KEGG_Gene hsa:10052 http://www.genome.jp/dbget-bin/www_bget?hsa:10052 KEGG_Orthology KO:K07616 http://www.genome.jp/dbget-bin/www_bget?KO:K07616 MIM 608655 http://www.ncbi.nlm.nih.gov/omim/608655 OMA RWKQHRG http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=RWKQHRG OrthoDB EOG091G08B8 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G08B8 PANTHER PTHR11984 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11984 PDB 3SHW http://www.ebi.ac.uk/pdbe-srv/view/entry/3SHW PDBsum 3SHW http://www.ebi.ac.uk/pdbsum/3SHW PRINTS PR00206 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00206 PRINTS PR01136 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01136 PROSITE PS00407 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00407 PROSITE PS00408 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00408 PSORT swissprot:CXG1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CXG1_HUMAN PSORT-B swissprot:CXG1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CXG1_HUMAN PSORT2 swissprot:CXG1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CXG1_HUMAN Pfam PF00029 http://pfam.xfam.org/family/PF00029 PharmGKB PA164741588 http://www.pharmgkb.org/do/serve?objId=PA164741588&objCls=Gene Phobius swissprot:CXG1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CXG1_HUMAN PhylomeDB P36383 http://phylomedb.org/?seqid=P36383 ProteinModelPortal P36383 http://www.proteinmodelportal.org/query/uniprot/P36383 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16625196 http://www.ncbi.nlm.nih.gov/pubmed/16625196 PubMed 7966354 http://www.ncbi.nlm.nih.gov/pubmed/7966354 Reactome R-HSA-112303 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-112303 Reactome R-HSA-190861 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-190861 RefSeq NP_001073852 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001073852 RefSeq NP_005488 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_005488 RefSeq XP_005256977 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005256977 RefSeq XP_005256978 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005256978 SMART SM00037 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00037 SMART SM01089 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM01089 SMR P36383 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P36383 STRING 9606.ENSP00000333193 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000333193&targetmode=cogs TCDB 1.A.24.2 http://www.tcdb.org/search/result.php?tc=1.A.24.2 UCSC uc002ihj http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002ihj&org=rat UniGene Hs.712052 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.712052 UniGene Hs.744748 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.744748 UniProtKB CXG1_HUMAN http://www.uniprot.org/uniprot/CXG1_HUMAN UniProtKB-AC P36383 http://www.uniprot.org/uniprot/P36383 charge swissprot:CXG1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CXG1_HUMAN eggNOG ENOG410IFK3 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IFK3 eggNOG ENOG410Z7PN http://eggnogapi.embl.de/nog_data/html/tree/ENOG410Z7PN epestfind swissprot:CXG1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CXG1_HUMAN garnier swissprot:CXG1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CXG1_HUMAN helixturnhelix swissprot:CXG1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CXG1_HUMAN hmoment swissprot:CXG1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CXG1_HUMAN iep swissprot:CXG1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CXG1_HUMAN inforesidue swissprot:CXG1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CXG1_HUMAN neXtProt NX_P36383 http://www.nextprot.org/db/entry/NX_P36383 octanol swissprot:CXG1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CXG1_HUMAN pepcoil swissprot:CXG1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CXG1_HUMAN pepdigest swissprot:CXG1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CXG1_HUMAN pepinfo swissprot:CXG1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CXG1_HUMAN pepnet swissprot:CXG1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CXG1_HUMAN pepstats swissprot:CXG1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CXG1_HUMAN pepwheel swissprot:CXG1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CXG1_HUMAN pepwindow swissprot:CXG1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CXG1_HUMAN sigcleave swissprot:CXG1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CXG1_HUMAN ## Database ID URL or Descriptions # AltName KCNG2_HUMAN Cardiac potassium channel subunit # AltName KCNG2_HUMAN Voltage-gated potassium channel subunit Kv6.2 # DOMAIN KCNG2_HUMAN The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position. # Ensembl ENST00000316249 ENSP00000315654; ENSG00000178342 # FUNCTION KCNG2_HUMAN Potassium channel subunit. Modulates channel activity by shifting the threshold and the half-maximal activation to more negative values. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0008076 voltage-gated potassium channel complex; TAS:ProtInc. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0005251 delayed rectifier potassium channel activity; TAS:ProtInc. # GO_process GO:0006813 potassium ion transport; TAS:ProtInc. # GO_process GO:0008016 regulation of heart contraction; TAS:ProtInc. # GO_process GO:0050796 regulation of insulin secretion; TAS:Reactome. # GO_process GO:0051260 protein homooligomerization; IEA:InterPro. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # Gene3D 1.20.120.350 -; 1. # Genevisible Q9UJ96 HS # HGNC HGNC:6249 KCNG2 # InterPro IPR000210 BTB/POZ_dom # InterPro IPR003131 T1-type_BTB # InterPro IPR003968 K_chnl_volt-dep_Kv # InterPro IPR003969 K_chnl_volt-dep_Kv6 # InterPro IPR005821 Ion_trans_dom # InterPro IPR011333 SKP1/BTB/POZ # InterPro IPR027359 Channel_four-helix_dom # InterPro IPR028325 VG_K_chnl # KEGG_Brite ko04040 Ion channels # MIM 605696 gene # MISCELLANEOUS KCNG2_HUMAN Heterodimers with KCNB1 are highly sensitive to inhibition by tetraethylammonium (TEA) and propafenone. # Organism KCNG2_HUMAN Homo sapiens (Human) # PANTHER PTHR11537 PTHR11537 # PRINTS PR00169 KCHANNEL # PRINTS PR01491 KVCHANNEL # PRINTS PR01492 KV6CHANNEL # Pfam PF00520 Ion_trans # Pfam PF02214 BTB_2 # Proteomes UP000005640 Chromosome 18 # Reactome R-HSA-1296072 Voltage gated Potassium channels # Reactome R-HSA-381676 Glucagon-like Peptide-1 (GLP1) regulates insulin secretion # RecName KCNG2_HUMAN Potassium voltage-gated channel subfamily G member 2 # RefSeq NP_036415 NM_012283.1 # RefSeq XP_011524220 XM_011525918.2 # RefSeq XP_011524222 XM_011525920.2 # RefSeq XP_016881194 XM_017025705.1 # SIMILARITY Belongs to the potassium channel family. G (TC 1.A.1.2) subfamily. Kv6.2/KCNG2 sub-subfamily. {ECO 0000305}. # SMART SM00225 BTB # SUBCELLULAR LOCATION KCNG2_HUMAN Membrane; Multi-pass membrane protein. # SUBUNIT KCNG2_HUMAN Heterodimer with KCNB1. Does not form homomultimers. # SUPFAM SSF54695 SSF54695 # TISSUE SPECIFICITY KCNG2_HUMAN Highly expressed in heart, liver, skeletal muscle, kidney and pancreas. Detected at low levels in brain, lung and placenta. # UCSC uc010xfl human # eggNOG COG1226 LUCA # eggNOG KOG3713 Eukaryota BLAST swissprot:KCNG2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCNG2_HUMAN BioCyc ZFISH:ENSG00000178342-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000178342-MONOMER COXPRESdb 26251 http://coxpresdb.jp/data/gene/26251.shtml CleanEx HS_KCNG2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNG2 EMBL AJ011021 http://www.ebi.ac.uk/ena/data/view/AJ011021 Ensembl ENST00000316249 http://www.ensembl.org/id/ENST00000316249 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0008076 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008076 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0005251 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005251 GO_process GO:0006813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006813 GO_process GO:0008016 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008016 GO_process GO:0050796 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050796 GO_process GO:0051260 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051260 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 Gene3D 1.20.120.350 http://www.cathdb.info/version/latest/superfamily/1.20.120.350 GeneCards KCNG2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNG2 GeneID 26251 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=26251 GeneTree ENSGT00760000118981 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118981 HGNC HGNC:6249 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6249 HOGENOM HOG000231014 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231014&db=HOGENOM6 HOVERGEN HBG100172 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG100172&db=HOVERGEN HPA HPA048628 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA048628 InParanoid Q9UJ96 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9UJ96 InterPro IPR000210 http://www.ebi.ac.uk/interpro/entry/IPR000210 InterPro IPR003131 http://www.ebi.ac.uk/interpro/entry/IPR003131 InterPro IPR003968 http://www.ebi.ac.uk/interpro/entry/IPR003968 InterPro IPR003969 http://www.ebi.ac.uk/interpro/entry/IPR003969 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR011333 http://www.ebi.ac.uk/interpro/entry/IPR011333 InterPro IPR027359 http://www.ebi.ac.uk/interpro/entry/IPR027359 InterPro IPR028325 http://www.ebi.ac.uk/interpro/entry/IPR028325 Jabion 26251 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=26251 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:26251 http://www.genome.jp/dbget-bin/www_bget?hsa:26251 KEGG_Orthology KO:K04901 http://www.genome.jp/dbget-bin/www_bget?KO:K04901 MIM 605696 http://www.ncbi.nlm.nih.gov/omim/605696 OMA SETTQCA http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=SETTQCA OrthoDB EOG091G0DSU http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0DSU PANTHER PTHR11537 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11537 PRINTS PR00169 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00169 PRINTS PR01491 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01491 PRINTS PR01492 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01492 PSORT swissprot:KCNG2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCNG2_HUMAN PSORT-B swissprot:KCNG2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCNG2_HUMAN PSORT2 swissprot:KCNG2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCNG2_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF02214 http://pfam.xfam.org/family/PF02214 PharmGKB PA30035 http://www.pharmgkb.org/do/serve?objId=PA30035&objCls=Gene Phobius swissprot:KCNG2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCNG2_HUMAN PhylomeDB Q9UJ96 http://phylomedb.org/?seqid=Q9UJ96 ProteinModelPortal Q9UJ96 http://www.proteinmodelportal.org/query/uniprot/Q9UJ96 PubMed 10551266 http://www.ncbi.nlm.nih.gov/pubmed/10551266 Reactome R-HSA-1296072 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1296072 Reactome R-HSA-381676 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-381676 RefSeq NP_036415 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_036415 RefSeq XP_011524220 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011524220 RefSeq XP_011524222 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011524222 RefSeq XP_016881194 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016881194 SMART SM00225 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00225 SMR Q9UJ96 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9UJ96 STRING 9606.ENSP00000315654 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000315654&targetmode=cogs SUPFAM SSF54695 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF54695 UCSC uc010xfl http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc010xfl&org=rat UniGene Hs.247905 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.247905 UniProtKB KCNG2_HUMAN http://www.uniprot.org/uniprot/KCNG2_HUMAN UniProtKB-AC Q9UJ96 http://www.uniprot.org/uniprot/Q9UJ96 charge swissprot:KCNG2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCNG2_HUMAN eggNOG COG1226 http://eggnogapi.embl.de/nog_data/html/tree/COG1226 eggNOG KOG3713 http://eggnogapi.embl.de/nog_data/html/tree/KOG3713 epestfind swissprot:KCNG2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCNG2_HUMAN garnier swissprot:KCNG2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCNG2_HUMAN helixturnhelix swissprot:KCNG2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCNG2_HUMAN hmoment swissprot:KCNG2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCNG2_HUMAN iep swissprot:KCNG2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCNG2_HUMAN inforesidue swissprot:KCNG2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCNG2_HUMAN neXtProt NX_Q9UJ96 http://www.nextprot.org/db/entry/NX_Q9UJ96 octanol swissprot:KCNG2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCNG2_HUMAN pepcoil swissprot:KCNG2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCNG2_HUMAN pepdigest swissprot:KCNG2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCNG2_HUMAN pepinfo swissprot:KCNG2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCNG2_HUMAN pepnet swissprot:KCNG2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCNG2_HUMAN pepstats swissprot:KCNG2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCNG2_HUMAN pepwheel swissprot:KCNG2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCNG2_HUMAN pepwindow swissprot:KCNG2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCNG2_HUMAN sigcleave swissprot:KCNG2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCNG2_HUMAN ## Database ID URL or Descriptions # AltName COX7S_HUMAN Cytochrome c oxidase subunit VIIa 3 # CAUTION Could be the product of a pseudogene. {ECO 0000305}. # CDD cd00928 Cyt_c_Oxidase_VIIa # GO_component GO:0005746 mitochondrial respiratory chain; IEA:InterPro. # GO_function GO:0004129 cytochrome-c oxidase activity; IEA:InterPro. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0016491 oxidoreductase activity # GOslim_function GO:0022857 transmembrane transporter activity # Gene3D 4.10.91.10 -; 1. # HGNC HGNC:2290 COX7A2P2 # InterPro IPR003177 Cyt_c_oxidase_su7a # MIM 123997 gene # Organism COX7S_HUMAN Homo sapiens (Human) # PANTHER PTHR10510 PTHR10510 # Proteomes UP000005640 Unplaced # RecName COX7S_HUMAN Putative cytochrome c oxidase subunit 7A3, mitochondrial # SIMILARITY Belongs to the cytochrome c oxidase VIIa family. {ECO 0000305}. # SUBCELLULAR LOCATION COX7S_HUMAN Mitochondrion inner membrane {ECO 0000250}. # SUPFAM SSF81419 SSF81419 BLAST swissprot:COX7S_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:COX7S_HUMAN BioCyc ZFISH:HS03213-MONOMER http://biocyc.org/getid?id=ZFISH:HS03213-MONOMER DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 EMBL AC004544 http://www.ebi.ac.uk/ena/data/view/AC004544 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005746 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005746 GO_function GO:0004129 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004129 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0016491 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016491 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 Gene3D 4.10.91.10 http://www.cathdb.info/version/latest/superfamily/4.10.91.10 GeneCards COX7A2P2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=COX7A2P2 HGNC HGNC:2290 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:2290 HOVERGEN HBG051095 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG051095&db=HOVERGEN InParanoid O60397 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O60397 InterPro IPR003177 http://www.ebi.ac.uk/interpro/entry/IPR003177 MIM 123997 http://www.ncbi.nlm.nih.gov/omim/123997 PANTHER PTHR10510 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10510 PSORT swissprot:COX7S_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:COX7S_HUMAN PSORT-B swissprot:COX7S_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:COX7S_HUMAN PSORT2 swissprot:COX7S_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:COX7S_HUMAN Phobius swissprot:COX7S_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:COX7S_HUMAN PhylomeDB O60397 http://phylomedb.org/?seqid=O60397 ProteinModelPortal O60397 http://www.proteinmodelportal.org/query/uniprot/O60397 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 SMR O60397 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=O60397 SUPFAM SSF81419 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81419 UniProtKB COX7S_HUMAN http://www.uniprot.org/uniprot/COX7S_HUMAN UniProtKB-AC O60397 http://www.uniprot.org/uniprot/O60397 charge swissprot:COX7S_HUMAN http://rest.g-language.org/emboss/charge/swissprot:COX7S_HUMAN epestfind swissprot:COX7S_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:COX7S_HUMAN garnier swissprot:COX7S_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:COX7S_HUMAN helixturnhelix swissprot:COX7S_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:COX7S_HUMAN hmoment swissprot:COX7S_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:COX7S_HUMAN iep swissprot:COX7S_HUMAN http://rest.g-language.org/emboss/iep/swissprot:COX7S_HUMAN inforesidue swissprot:COX7S_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:COX7S_HUMAN neXtProt NX_O60397 http://www.nextprot.org/db/entry/NX_O60397 octanol swissprot:COX7S_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:COX7S_HUMAN pepcoil swissprot:COX7S_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:COX7S_HUMAN pepdigest swissprot:COX7S_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:COX7S_HUMAN pepinfo swissprot:COX7S_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:COX7S_HUMAN pepnet swissprot:COX7S_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:COX7S_HUMAN pepstats swissprot:COX7S_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:COX7S_HUMAN pepwheel swissprot:COX7S_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:COX7S_HUMAN pepwindow swissprot:COX7S_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:COX7S_HUMAN sigcleave swissprot:COX7S_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:COX7S_HUMAN ## Database ID URL or Descriptions # AltName SC6A5_HUMAN Solute carrier family 6 member 5 # BioGrid 114599 12 # DISEASE SC6A5_HUMAN Hyperekplexia 3 (HKPX3) [MIM 614618] A neurologic disorder characterized by neonatal hypertonia, an exaggerated startle response to tactile or acoustic stimuli, and life- threatening neonatal apnea episodes. Notably, in some cases, symptoms resolved in the first year of life. {ECO 0000269|PubMed 16751771}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DrugBank DB00145 Glycine # Ensembl ENST00000525748 ENSP00000434364; ENSG00000165970 # ExpressionAtlas Q9Y345 baseline and differential # FUNCTION SC6A5_HUMAN Terminates the action of glycine by its high affinity sodium-dependent reuptake into presynaptic terminals. May be responsible for the termination of neurotransmission at strychnine-sensitive glycinergic synapses. {ECO 0000269|PubMed 10381548, ECO 0000269|PubMed 10606742, ECO 0000269|PubMed 9845349}. # GO_component GO:0005886 plasma membrane; IDA:FlyBase. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0016021 integral component of membrane; TAS:ProtInc. # GO_function GO:0046872 metal ion binding; IEA:UniProtKB-KW. # GO_function SC6A5_HUMAN GO 0005328 neurotransmitter sodium symporter activity; IEA InterPro. # GO_function SC6A5_HUMAN GO 0015375 glycine sodium symporter activity; IDA FlyBase. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0007268 chemical synaptic transmission; TAS:ProtInc. # GO_process GO:0036233 glycine import; IDA:FlyBase. # GO_process GO:0060012 synaptic transmission, glycinergic; IMP:FlyBase. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0007267 cell-cell signaling # Genevisible Q9Y345 HS # HGNC HGNC:11051 SLC6A5 # InterPro IPR000175 Na/ntran_symport # KEGG_Brite ko02001 Solute carrier family # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00769 [Nervous system disease] Hyperekplexia # MIM 604159 gene # MIM 614618 phenotype # Organism SC6A5_HUMAN Homo sapiens (Human) # Orphanet 3197 Hereditary hyperekplexia # PANTHER PTHR11616 PTHR11616; 2 # PRINTS PR00176 NANEUSMPORT # PROSITE PS00610 NA_NEUROTRAN_SYMP_1 # PROSITE PS00754 NA_NEUROTRAN_SYMP_2 # PROSITE PS50267 NA_NEUROTRAN_SYMP_3 # Pfam PF00209 SNF # Proteomes UP000005640 Chromosome 11 # Reactome R-HSA-442660 Na+/Cl- dependent neurotransmitter transporters # RecName SC6A5_HUMAN Sodium- and chloride-dependent glycine transporter 2 # RefSeq NP_001305298 NM_001318369.1 # RefSeq NP_004202 NM_004211.4 # SIMILARITY Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A5 subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION SC6A5_HUMAN Cell membrane {ECO 0000269|PubMed 10381548, ECO 0000269|PubMed 10606742, ECO 0000269|PubMed 9845349}; Multi- pass membrane protein {ECO 0000250|UniProtKB Q7K4Y6}. # TCDB 2.A.22.2.10:the neurotransmitter sodium symporter (nss) family # TISSUE SPECIFICITY SC6A5_HUMAN Expressed in medulla, and to a lesser extent in spinal cord and cerebellum. # UCSC uc001mqd human # eggNOG COG0733 LUCA # eggNOG KOG3659 Eukaryota BLAST swissprot:SC6A5_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SC6A5_HUMAN BioCyc ZFISH:ENSG00000165970-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000165970-MONOMER COXPRESdb 9152 http://coxpresdb.jp/data/gene/9152.shtml CleanEx HS_NET1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_NET1 CleanEx HS_SLC6A5 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC6A5 DOI 10.1016/S0014-5793(98)01390-8 http://dx.doi.org/10.1016/S0014-5793(98)01390-8 DOI 10.1016/S0014-5793(99)01636-1 http://dx.doi.org/10.1016/S0014-5793(99)01636-1 DOI 10.1016/S0169-328X(99)00135-7 http://dx.doi.org/10.1016/S0169-328X(99)00135-7 DOI 10.1038/nature04632 http://dx.doi.org/10.1038/nature04632 DOI 10.1038/ng1814 http://dx.doi.org/10.1038/ng1814 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1133427 http://dx.doi.org/10.1126/science.1133427 DrugBank DB00145 http://www.drugbank.ca/drugs/DB00145 EMBL AC090707 http://www.ebi.ac.uk/ena/data/view/AC090707 EMBL AF085412 http://www.ebi.ac.uk/ena/data/view/AF085412 EMBL AF117999 http://www.ebi.ac.uk/ena/data/view/AF117999 EMBL AF142501 http://www.ebi.ac.uk/ena/data/view/AF142501 EMBL AF352733 http://www.ebi.ac.uk/ena/data/view/AF352733 EMBL BC096319 http://www.ebi.ac.uk/ena/data/view/BC096319 Ensembl ENST00000525748 http://www.ensembl.org/id/ENST00000525748 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005328 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005328 GO_function GO:0015375 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015375 GO_function GO:0046872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046872 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0007268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007268 GO_process GO:0036233 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0036233 GO_process GO:0060012 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060012 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GeneCards SLC6A5 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC6A5 GeneID 9152 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=9152 GeneTree ENSGT00760000118857 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118857 H-InvDB HIX0035860 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0035860 HGNC HGNC:11051 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11051 HOGENOM HOG000116406 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000116406&db=HOGENOM6 HOVERGEN HBG071421 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG071421&db=HOVERGEN InParanoid Q9Y345 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9Y345 InterPro IPR000175 http://www.ebi.ac.uk/interpro/entry/IPR000175 Jabion 9152 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=9152 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00769 http://www.genome.jp/dbget-bin/www_bget?H00769 KEGG_Gene hsa:9152 http://www.genome.jp/dbget-bin/www_bget?hsa:9152 KEGG_Orthology KO:K05038 http://www.genome.jp/dbget-bin/www_bget?KO:K05038 MIM 604159 http://www.ncbi.nlm.nih.gov/omim/604159 MIM 614618 http://www.ncbi.nlm.nih.gov/omim/614618 OMA GNALHCK http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=GNALHCK Orphanet 3197 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=3197 OrthoDB EOG091G08PX http://cegg.unige.ch/orthodb/results?searchtext=EOG091G08PX PANTHER PTHR11616 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11616 PRINTS PR00176 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00176 PROSITE PS00610 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00610 PROSITE PS00754 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00754 PROSITE PS50267 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50267 PSORT swissprot:SC6A5_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SC6A5_HUMAN PSORT-B swissprot:SC6A5_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SC6A5_HUMAN PSORT2 swissprot:SC6A5_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SC6A5_HUMAN Pfam PF00209 http://pfam.xfam.org/family/PF00209 PharmGKB PA35911 http://www.pharmgkb.org/do/serve?objId=PA35911&objCls=Gene Phobius swissprot:SC6A5_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SC6A5_HUMAN PhylomeDB Q9Y345 http://phylomedb.org/?seqid=Q9Y345 ProteinModelPortal Q9Y345 http://www.proteinmodelportal.org/query/uniprot/Q9Y345 PubMed 10381548 http://www.ncbi.nlm.nih.gov/pubmed/10381548 PubMed 10606742 http://www.ncbi.nlm.nih.gov/pubmed/10606742 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16554811 http://www.ncbi.nlm.nih.gov/pubmed/16554811 PubMed 16751771 http://www.ncbi.nlm.nih.gov/pubmed/16751771 PubMed 16959974 http://www.ncbi.nlm.nih.gov/pubmed/16959974 PubMed 9845349 http://www.ncbi.nlm.nih.gov/pubmed/9845349 Reactome R-HSA-442660 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-442660 RefSeq NP_001305298 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001305298 RefSeq NP_004202 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004202 STRING 9606.ENSP00000434364 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000434364&targetmode=cogs TCDB 2.A.22.2.10 http://www.tcdb.org/search/result.php?tc=2.A.22.2.10 UCSC uc001mqd http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001mqd&org=rat UniGene Hs.136557 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.136557 UniProtKB SC6A5_HUMAN http://www.uniprot.org/uniprot/SC6A5_HUMAN UniProtKB-AC Q9Y345 http://www.uniprot.org/uniprot/Q9Y345 charge swissprot:SC6A5_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SC6A5_HUMAN eggNOG COG0733 http://eggnogapi.embl.de/nog_data/html/tree/COG0733 eggNOG KOG3659 http://eggnogapi.embl.de/nog_data/html/tree/KOG3659 epestfind swissprot:SC6A5_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SC6A5_HUMAN garnier swissprot:SC6A5_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SC6A5_HUMAN helixturnhelix swissprot:SC6A5_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SC6A5_HUMAN hmoment swissprot:SC6A5_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SC6A5_HUMAN iep swissprot:SC6A5_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SC6A5_HUMAN inforesidue swissprot:SC6A5_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SC6A5_HUMAN neXtProt NX_Q9Y345 http://www.nextprot.org/db/entry/NX_Q9Y345 octanol swissprot:SC6A5_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SC6A5_HUMAN pepcoil swissprot:SC6A5_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SC6A5_HUMAN pepdigest swissprot:SC6A5_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SC6A5_HUMAN pepinfo swissprot:SC6A5_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SC6A5_HUMAN pepnet swissprot:SC6A5_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SC6A5_HUMAN pepstats swissprot:SC6A5_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SC6A5_HUMAN pepwheel swissprot:SC6A5_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SC6A5_HUMAN pepwindow swissprot:SC6A5_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SC6A5_HUMAN sigcleave swissprot:SC6A5_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SC6A5_HUMAN ## Database ID URL or Descriptions # AltName CX7A2_HUMAN Cytochrome c oxidase subunit VIIa-liver/heart # BioGrid 107740 19 # CDD cd00928 Cyt_c_Oxidase_VIIa # ChiTaRS COX7A2 human # Ensembl ENST00000230459 ENSP00000230459; ENSG00000112695 # FUNCTION CX7A2_HUMAN This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport. # GO_component GO:0005746 mitochondrial respiratory chain; IEA:InterPro. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0004129 cytochrome-c oxidase activity; IEA:InterPro. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0043226 organelle # GOslim_function GO:0016491 oxidoreductase activity # GOslim_function GO:0022857 transmembrane transporter activity # Gene3D 4.10.91.10 -; 1. # HGNC HGNC:2288 COX7A2 # IntAct P14406 4 # InterPro IPR003177 Cyt_c_oxidase_su7a # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Pathway ko00190 Oxidative phosphorylation # KEGG_Pathway ko04260 Cardiac muscle contraction # KEGG_Pathway ko05010 Alzheimer's disease # KEGG_Pathway ko05012 Parkinson's disease # KEGG_Pathway ko05016 Huntington's disease # MIM 123996 gene # Organism CX7A2_HUMAN Homo sapiens (Human) # PANTHER PTHR10510 PTHR10510 # PIR S06897 OSHU7L # Proteomes UP000005640 Unplaced # RecName CX7A2_HUMAN Cytochrome c oxidase subunit 7A2, mitochondrial # RefSeq NP_001856 NM_001865.3 # SEQUENCE CAUTION Sequence=CAI19899.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the cytochrome c oxidase VIIa family. {ECO 0000305}. # SUBCELLULAR LOCATION CX7A2_HUMAN Mitochondrion inner membrane. # SUBUNIT Interacts with PET100. {ECO:0000269|PubMed 22356826}. # SUPFAM SSF81419 SSF81419 # TCDB 3.D.4.11 the proton-translocating cytochrome oxidase (cox) superfamily # eggNOG ENOG410IZJ9 Eukaryota # eggNOG ENOG41124EQ LUCA BLAST swissprot:CX7A2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CX7A2_HUMAN BioCyc ZFISH:HS03606-MONOMER http://biocyc.org/getid?id=ZFISH:HS03606-MONOMER COXPRESdb 1347 http://coxpresdb.jp/data/gene/1347.shtml CleanEx HS_COX7A2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_COX7A2 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1038/nature02055 http://dx.doi.org/10.1038/nature02055 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1093/nar/17.17.7107 http://dx.doi.org/10.1093/nar/17.17.7107 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1432-1033.1992.tb19847.x http://dx.doi.org/10.1111/j.1432-1033.1992.tb19847.x DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DOI 10.1186/gb-2012-13-2-r12 http://dx.doi.org/10.1186/gb-2012-13-2-r12 EMBL AF134406 http://www.ebi.ac.uk/ena/data/view/AF134406 EMBL AK312154 http://www.ebi.ac.uk/ena/data/view/AK312154 EMBL AL080250 http://www.ebi.ac.uk/ena/data/view/AL080250 EMBL BC101826 http://www.ebi.ac.uk/ena/data/view/BC101826 EMBL BC101828 http://www.ebi.ac.uk/ena/data/view/BC101828 EMBL CR407646 http://www.ebi.ac.uk/ena/data/view/CR407646 EMBL CR542125 http://www.ebi.ac.uk/ena/data/view/CR542125 EMBL X15822 http://www.ebi.ac.uk/ena/data/view/X15822 Ensembl ENST00000230459 http://www.ensembl.org/id/ENST00000230459 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005746 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005746 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0004129 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004129 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0016491 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016491 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 Gene3D 4.10.91.10 http://www.cathdb.info/version/latest/superfamily/4.10.91.10 GeneCards COX7A2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=COX7A2 GeneID 1347 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=1347 H-InvDB HIX0200919 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0200919 HGNC HGNC:2288 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:2288 HOGENOM HOG000264231 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000264231&db=HOGENOM6 HOVERGEN HBG051095 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG051095&db=HOVERGEN InParanoid P14406 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P14406 IntAct P14406 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P14406* InterPro IPR003177 http://www.ebi.ac.uk/interpro/entry/IPR003177 Jabion 1347 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=1347 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00002 http://www.genome.jp/dbget-bin/www_bget?ko00002 KEGG_Gene hsa:1347 http://www.genome.jp/dbget-bin/www_bget?hsa:1347 KEGG_Orthology KO:K02270 http://www.genome.jp/dbget-bin/www_bget?KO:K02270 KEGG_Pathway ko00190 http://www.genome.jp/kegg-bin/show_pathway?ko00190 KEGG_Pathway ko04260 http://www.genome.jp/kegg-bin/show_pathway?ko04260 KEGG_Pathway ko05010 http://www.genome.jp/kegg-bin/show_pathway?ko05010 KEGG_Pathway ko05012 http://www.genome.jp/kegg-bin/show_pathway?ko05012 KEGG_Pathway ko05016 http://www.genome.jp/kegg-bin/show_pathway?ko05016 MIM 123996 http://www.ncbi.nlm.nih.gov/omim/123996 PANTHER PTHR10510 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10510 PSORT swissprot:CX7A2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CX7A2_HUMAN PSORT-B swissprot:CX7A2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CX7A2_HUMAN PSORT2 swissprot:CX7A2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CX7A2_HUMAN PharmGKB PA26806 http://www.pharmgkb.org/do/serve?objId=PA26806&objCls=Gene Phobius swissprot:CX7A2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CX7A2_HUMAN PhylomeDB P14406 http://phylomedb.org/?seqid=P14406 ProteinModelPortal P14406 http://www.proteinmodelportal.org/query/uniprot/P14406 PubMed 11004498 http://www.ncbi.nlm.nih.gov/pubmed/11004498 PubMed 1309697 http://www.ncbi.nlm.nih.gov/pubmed/1309697 PubMed 14574404 http://www.ncbi.nlm.nih.gov/pubmed/14574404 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 22356826 http://www.ncbi.nlm.nih.gov/pubmed/22356826 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 2550906 http://www.ncbi.nlm.nih.gov/pubmed/2550906 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 RefSeq NP_001856 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001856 SMR P14406 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P14406 STRING 9606.ENSP00000359098 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000359098&targetmode=cogs SUPFAM SSF81419 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81419 TCDB 3.D.4.11 http://www.tcdb.org/search/result.php?tc=3.D.4.11 UniGene Hs.70312 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.70312 UniProtKB CX7A2_HUMAN http://www.uniprot.org/uniprot/CX7A2_HUMAN UniProtKB-AC P14406 http://www.uniprot.org/uniprot/P14406 charge swissprot:CX7A2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CX7A2_HUMAN eggNOG ENOG410IZJ9 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IZJ9 eggNOG ENOG41124EQ http://eggnogapi.embl.de/nog_data/html/tree/ENOG41124EQ epestfind swissprot:CX7A2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CX7A2_HUMAN garnier swissprot:CX7A2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CX7A2_HUMAN helixturnhelix swissprot:CX7A2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CX7A2_HUMAN hmoment swissprot:CX7A2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CX7A2_HUMAN iep swissprot:CX7A2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CX7A2_HUMAN inforesidue swissprot:CX7A2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CX7A2_HUMAN neXtProt NX_P14406 http://www.nextprot.org/db/entry/NX_P14406 octanol swissprot:CX7A2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CX7A2_HUMAN pepcoil swissprot:CX7A2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CX7A2_HUMAN pepdigest swissprot:CX7A2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CX7A2_HUMAN pepinfo swissprot:CX7A2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CX7A2_HUMAN pepnet swissprot:CX7A2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CX7A2_HUMAN pepstats swissprot:CX7A2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CX7A2_HUMAN pepwheel swissprot:CX7A2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CX7A2_HUMAN pepwindow swissprot:CX7A2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CX7A2_HUMAN sigcleave swissprot:CX7A2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CX7A2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S22AA_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q63ZE4-1; Sequence=Displayed; Name=2; IsoId=Q63ZE4-2; Sequence=VSP_056645, VSP_056646, VSP_056647; # AltName S22AA_HUMAN Organic anion transporter 5 # CCDS CCDS41661 -. [Q63ZE4-1] # CDD cd06174 MFS # DrugBank DB00286 Conjugated Estrogens # DrugBank DB00936 Salicylic acid # DrugBank DB01032 Probenecid # Ensembl ENST00000332793 ENSP00000327569; ENSG00000184999. [Q63ZE4-1] # ExpressionAtlas Q63ZE4 baseline and differential # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_function GO:0005452 inorganic anion exchanger activity; IBA:GO_Central. # GO_function GO:0015347 sodium-independent organic anion transmembrane transporter activity; IBA:GO_Central. # GO_process GO:0043252 sodium-independent organic anion transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # HGNC HGNC:18057 SLC22A10 # InterPro IPR005828 MFS_sugar_transport-like # InterPro IPR020846 MFS_dom # KEGG_Brite ko02000 Transporters # KEGG_Brite ko02001 Solute carrier family # MIM 607580 gene # Organism S22AA_HUMAN Homo sapiens (Human) # PROSITE PS50850 MFS # Pfam PF00083 Sugar_tr # Proteomes UP000005640 Chromosome 11 # RecName S22AA_HUMAN Solute carrier family 22 member 10 # RefSeq NP_001034841 NM_001039752.3. [Q63ZE4-1] # RefSeq XP_011543318 XM_011545016.2. [Q63ZE4-1] # SIMILARITY Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family. {ECO 0000305}. # SUBCELLULAR LOCATION S22AA_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # SUPFAM SSF103473 SSF103473 # TCDB 2.A.1.19.27 the major facilitator superfamily (mfs) # TISSUE SPECIFICITY S22AA_HUMAN Detected in fetal and adult liver, and in adult kidney. {ECO 0000269|PubMed 11327718, ECO 0000269|PubMed 12372408}. # UCSC uc009yor human. [Q63ZE4-1] # eggNOG COG0477 LUCA # eggNOG KOG0255 Eukaryota BLAST swissprot:S22AA_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S22AA_HUMAN BioCyc ZFISH:G66-32580-MONOMER http://biocyc.org/getid?id=ZFISH:G66-32580-MONOMER COXPRESdb 387775 http://coxpresdb.jp/data/gene/387775.shtml CleanEx HS_SLC22A10 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC22A10 DOI 10.1006/bbrc.2001.4774 http://dx.doi.org/10.1006/bbrc.2001.4774 DOI 10.1016/S0006-291X(02)02343-4 http://dx.doi.org/10.1016/S0006-291X(02)02343-4 DOI 10.1038/nature04632 http://dx.doi.org/10.1038/nature04632 DOI 10.1038/sj.onc.1207782 http://dx.doi.org/10.1038/sj.onc.1207782 DrugBank DB00286 http://www.drugbank.ca/drugs/DB00286 DrugBank DB00936 http://www.drugbank.ca/drugs/DB00936 DrugBank DB01032 http://www.drugbank.ca/drugs/DB01032 EMBL AB075876 http://www.ebi.ac.uk/ena/data/view/AB075876 EMBL AP001858 http://www.ebi.ac.uk/ena/data/view/AP001858 EMBL AP001880 http://www.ebi.ac.uk/ena/data/view/AP001880 EMBL AP003420 http://www.ebi.ac.uk/ena/data/view/AP003420 EMBL BK001421 http://www.ebi.ac.uk/ena/data/view/BK001421 Ensembl ENST00000332793 http://www.ensembl.org/id/ENST00000332793 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0005452 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005452 GO_function GO:0015347 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015347 GO_process GO:0043252 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043252 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GeneCards SLC22A10 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC22A10 GeneID 387775 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=387775 GeneTree ENSGT00760000118852 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118852 H-InvDB HIX0035825 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0035825 HGNC HGNC:18057 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:18057 HOGENOM HOG000234569 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000234569&db=HOGENOM6 HOVERGEN HBG108433 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG108433&db=HOVERGEN InParanoid Q63ZE4 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q63ZE4 InterPro IPR005828 http://www.ebi.ac.uk/interpro/entry/IPR005828 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 387775 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=387775 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:387775 http://www.genome.jp/dbget-bin/www_bget?hsa:387775 KEGG_Orthology KO:K08206 http://www.genome.jp/dbget-bin/www_bget?KO:K08206 MIM 607580 http://www.ncbi.nlm.nih.gov/omim/607580 OMA SVAVHFI http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=SVAVHFI OrthoDB EOG091G04H6 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G04H6 PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PSORT swissprot:S22AA_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S22AA_HUMAN PSORT-B swissprot:S22AA_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S22AA_HUMAN PSORT2 swissprot:S22AA_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S22AA_HUMAN Pfam PF00083 http://pfam.xfam.org/family/PF00083 PharmGKB PA38283 http://www.pharmgkb.org/do/serve?objId=PA38283&objCls=Gene Phobius swissprot:S22AA_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S22AA_HUMAN PhylomeDB Q63ZE4 http://phylomedb.org/?seqid=Q63ZE4 ProteinModelPortal Q63ZE4 http://www.proteinmodelportal.org/query/uniprot/Q63ZE4 PubMed 11327718 http://www.ncbi.nlm.nih.gov/pubmed/11327718 PubMed 12372408 http://www.ncbi.nlm.nih.gov/pubmed/12372408 PubMed 15221005 http://www.ncbi.nlm.nih.gov/pubmed/15221005 PubMed 16554811 http://www.ncbi.nlm.nih.gov/pubmed/16554811 RefSeq NP_001034841 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001034841 RefSeq XP_011543318 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011543318 STRING 9606.ENSP00000327569 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000327569&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.1.19.27 http://www.tcdb.org/search/result.php?tc=2.A.1.19.27 UCSC uc009yor http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc009yor&org=rat UniGene Hs.188982 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.188982 UniProtKB S22AA_HUMAN http://www.uniprot.org/uniprot/S22AA_HUMAN UniProtKB-AC Q63ZE4 http://www.uniprot.org/uniprot/Q63ZE4 charge swissprot:S22AA_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S22AA_HUMAN eggNOG COG0477 http://eggnogapi.embl.de/nog_data/html/tree/COG0477 eggNOG KOG0255 http://eggnogapi.embl.de/nog_data/html/tree/KOG0255 epestfind swissprot:S22AA_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S22AA_HUMAN garnier swissprot:S22AA_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S22AA_HUMAN helixturnhelix swissprot:S22AA_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S22AA_HUMAN hmoment swissprot:S22AA_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S22AA_HUMAN iep swissprot:S22AA_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S22AA_HUMAN inforesidue swissprot:S22AA_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S22AA_HUMAN neXtProt NX_Q63ZE4 http://www.nextprot.org/db/entry/NX_Q63ZE4 octanol swissprot:S22AA_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S22AA_HUMAN pepcoil swissprot:S22AA_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S22AA_HUMAN pepdigest swissprot:S22AA_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S22AA_HUMAN pepinfo swissprot:S22AA_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S22AA_HUMAN pepnet swissprot:S22AA_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S22AA_HUMAN pepstats swissprot:S22AA_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S22AA_HUMAN pepwheel swissprot:S22AA_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S22AA_HUMAN pepwindow swissprot:S22AA_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S22AA_HUMAN sigcleave swissprot:S22AA_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S22AA_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS SCN4B_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q8IWT1-1; Sequence=Displayed; Name=2; IsoId=Q8IWT1-2; Sequence=VSP_053913; Note=No experimental confirmation available.; Name=3; IsoId=Q8IWT1-3; Sequence=VSP_046971; Note=Gene prediction based on EST data.; # CCDS CCDS44744 -. [Q8IWT1-3] # CCDS CCDS8389 -. [Q8IWT1-1] # ChiTaRS SCN4B human # DISEASE SCN4B_HUMAN Atrial fibrillation, familial, 17 (ATFB17) [MIM 611819] A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. {ECO 0000269|PubMed 23604097}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE SCN4B_HUMAN Long QT syndrome 10 (LQT10) [MIM 611819] A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. {ECO 0000269|PubMed 17592081}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DrugBank DB00313 Valproic Acid # DrugBank DB00909 Zonisamide # Ensembl ENST00000324727 ENSP00000322460; ENSG00000177098. [Q8IWT1-1] # Ensembl ENST00000529878 ENSP00000436343; ENSG00000177098. [Q8IWT1-3] # ExpressionAtlas Q8IWT1 baseline and differential # FUNCTION SCN4B_HUMAN Modulates channel gating kinetics. Causes negative shifts in the voltage dependence of activation of certain alpha sodium channels, but does not affect the voltage dependence of inactivation. Modulates the suceptibility of the sodium channel to inhibition by toxic peptides from spider, scorpion, wasp and sea anemone venom. {ECO 0000269|PubMed 24297919}. # GO_component GO:0001518 voltage-gated sodium channel complex; IDA:UniProtKB. # GO_component GO:0014704 intercalated disc; ISS:BHF-UCL. # GO_component GO:0031226 intrinsic component of plasma membrane; IDA:UniProtKB. # GO_function GO:0005248 voltage-gated sodium channel activity; IDA:UniProtKB. # GO_function GO:0017080 sodium channel regulator activity; IDA:UniProtKB. # GO_function GO:0044325 ion channel binding; IPI:BHF-UCL. # GO_function GO:0086006 voltage-gated sodium channel activity involved in cardiac muscle cell action potential; IMP:BHF-UCL. # GO_process GO:0006814 sodium ion transport; IDA:UniProtKB. # GO_process GO:0010765 positive regulation of sodium ion transport; IDA:BHF-UCL. # GO_process GO:0035725 sodium ion transmembrane transport; IDA:BHF-UCL. # GO_process GO:0060048 cardiac muscle contraction; IMP:BHF-UCL. # GO_process GO:0060307 regulation of ventricular cardiac muscle cell membrane repolarization; IMP:BHF-UCL. # GO_process GO:0086002 cardiac muscle cell action potential involved in contraction; IMP:BHF-UCL. # GO_process GO:0086012 membrane depolarization during cardiac muscle cell action potential; IMP:BHF-UCL. # GO_process GO:0086016 AV node cell action potential; IMP:BHF-UCL. # GO_process GO:0086091 regulation of heart rate by cardiac conduction; IMP:BHF-UCL. # GO_process GO:2000649 regulation of sodium ion transmembrane transporter activity; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0055085 transmembrane transport # Gene3D 2.60.40.10 -; 1. # Genevisible Q8IWT1 HS # HGNC HGNC:10592 SCN4B # InterPro IPR000920 Myelin_P0-rel # InterPro IPR003599 Ig_sub # InterPro IPR007110 Ig-like_dom # InterPro IPR013106 Ig_V-set # InterPro IPR013783 Ig-like_fold # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00720 [Cardiovascular disease] Jervell and Lange-Nielsen syndrome (JLNS) # MIM 608256 gene # MIM 611819 phenotype # Organism SCN4B_HUMAN Homo sapiens (Human) # Orphanet 101016 Romano-Ward syndrome # Orphanet 334 Familial atrial fibrillation # PANTHER PTHR13869 PTHR13869 # PDB 4MZ2 X-ray; 1.72 A; A=32-157 # PDB 4MZ3 X-ray; 1.74 A; A/B=32-157 # PROSITE PS50835 IG_LIKE # PTM SCN4B_HUMAN Contains an interchain disulfide bond with SCN2A. # PTM SCN4B_HUMAN N-glycosylated. {ECO 0000269|PubMed 24297919}. # Pfam PF07686 V-set # Proteomes UP000005640 Chromosome 11 # Reactome R-HSA-445095 Interaction between L1 and Ankyrins # Reactome R-HSA-5576892 Phase 0 - rapid depolarisation # RecName SCN4B_HUMAN Sodium channel subunit beta-4 # RefSeq NP_001135820 NM_001142348.1. [Q8IWT1-3] # RefSeq NP_001135821 NM_001142349.1. [Q8IWT1-2] # RefSeq NP_777594 NM_174934.3. [Q8IWT1-1] # SIMILARITY Belongs to the sodium channel auxiliary subunit SCN4B (TC 8.A.17) family. {ECO 0000305}. # SIMILARITY Contains 1 Ig-like C2-type (immunoglobulin-like) domain. {ECO 0000305}. # SMART SM00409 IG # SUBCELLULAR LOCATION SCN4B_HUMAN Cell membrane {ECO 0000269|PubMed 24297919}; Single-pass type I membrane protein {ECO 0000269|PubMed 24297919}. # SUBUNIT Component of the voltage-sensitive sodium channel complex that consists of an ion-conducting pore-forming alpha subunit and one or more regulatory beta subunits. Heterooligomer with SCN2A; disulfide-linked. {ECO:0000269|PubMed 24297919}. # SUPFAM SSF48726 SSF48726 # TCDB 8.A.17.2 the na(+) channel auxiliary subunit 1-4 (sca-) family # TISSUE SPECIFICITY SCN4B_HUMAN Expressed at a high level in dorsal root ganglia, at a lower level in brain, spinal cord, skeletal muscle and heart. Expressed in the atrium. {ECO 0000269|PubMed 12930796, ECO 0000269|PubMed 21051419}. # UCSC uc001pse human. [Q8IWT1-1] # eggNOG ENOG410IXQZ Eukaryota # eggNOG ENOG4111PJ2 LUCA BLAST swissprot:SCN4B_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SCN4B_HUMAN COXPRESdb 6330 http://coxpresdb.jp/data/gene/6330.shtml CleanEx HS_SCN4B http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SCN4B DOI 10.1038/nature04632 http://dx.doi.org/10.1038/nature04632 DOI 10.1073/pnas.1314557110 http://dx.doi.org/10.1073/pnas.1314557110 DOI 10.1093/cvr/cvq348 http://dx.doi.org/10.1093/cvr/cvq348 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1161/CIRCULATIONAHA.106.659086 http://dx.doi.org/10.1161/CIRCULATIONAHA.106.659086 DOI 10.3892/ijmm.2013.1355 http://dx.doi.org/10.3892/ijmm.2013.1355 DrugBank DB00313 http://www.drugbank.ca/drugs/DB00313 DrugBank DB00909 http://www.drugbank.ca/drugs/DB00909 EMBL AP002800 http://www.ebi.ac.uk/ena/data/view/AP002800 EMBL AY149967 http://www.ebi.ac.uk/ena/data/view/AY149967 EMBL BC035017 http://www.ebi.ac.uk/ena/data/view/BC035017 Ensembl ENST00000324727 http://www.ensembl.org/id/ENST00000324727 Ensembl ENST00000529878 http://www.ensembl.org/id/ENST00000529878 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0001518 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001518 GO_component GO:0014704 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014704 GO_component GO:0031226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031226 GO_function GO:0005248 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005248 GO_function GO:0017080 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0017080 GO_function GO:0044325 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044325 GO_function GO:0086006 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086006 GO_process GO:0006814 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006814 GO_process GO:0010765 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010765 GO_process GO:0035725 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035725 GO_process GO:0060048 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060048 GO_process GO:0060307 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060307 GO_process GO:0086002 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086002 GO_process GO:0086012 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086012 GO_process GO:0086016 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086016 GO_process GO:0086091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086091 GO_process GO:2000649 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000649 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 2.60.40.10 http://www.cathdb.info/version/latest/superfamily/2.60.40.10 GeneCards SCN4B http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SCN4B GeneID 6330 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6330 GeneTree ENSGT00640000091161 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00640000091161 HGNC HGNC:10592 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10592 HOGENOM HOG000048715 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000048715&db=HOGENOM6 HOVERGEN HBG056581 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG056581&db=HOVERGEN HPA HPA017293 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA017293 InParanoid Q8IWT1 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8IWT1 InterPro IPR000920 http://www.ebi.ac.uk/interpro/entry/IPR000920 InterPro IPR003599 http://www.ebi.ac.uk/interpro/entry/IPR003599 InterPro IPR007110 http://www.ebi.ac.uk/interpro/entry/IPR007110 InterPro IPR013106 http://www.ebi.ac.uk/interpro/entry/IPR013106 InterPro IPR013783 http://www.ebi.ac.uk/interpro/entry/IPR013783 Jabion 6330 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6330 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00720 http://www.genome.jp/dbget-bin/www_bget?H00720 KEGG_Gene hsa:6330 http://www.genome.jp/dbget-bin/www_bget?hsa:6330 KEGG_Orthology KO:K04848 http://www.genome.jp/dbget-bin/www_bget?KO:K04848 MIM 608256 http://www.ncbi.nlm.nih.gov/omim/608256 MIM 611819 http://www.ncbi.nlm.nih.gov/omim/611819 OMA REKKKEC http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=REKKKEC Orphanet 101016 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=101016 Orphanet 334 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=334 OrthoDB EOG091G0MQV http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0MQV PANTHER PTHR13869 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR13869 PDB 4MZ2 http://www.ebi.ac.uk/pdbe-srv/view/entry/4MZ2 PDB 4MZ3 http://www.ebi.ac.uk/pdbe-srv/view/entry/4MZ3 PDBsum 4MZ2 http://www.ebi.ac.uk/pdbsum/4MZ2 PDBsum 4MZ3 http://www.ebi.ac.uk/pdbsum/4MZ3 PROSITE PS50835 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50835 PSORT swissprot:SCN4B_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SCN4B_HUMAN PSORT-B swissprot:SCN4B_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SCN4B_HUMAN PSORT2 swissprot:SCN4B_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SCN4B_HUMAN Pfam PF07686 http://pfam.xfam.org/family/PF07686 PharmGKB PA35007 http://www.pharmgkb.org/do/serve?objId=PA35007&objCls=Gene Phobius swissprot:SCN4B_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SCN4B_HUMAN PhylomeDB Q8IWT1 http://phylomedb.org/?seqid=Q8IWT1 ProteinModelPortal Q8IWT1 http://www.proteinmodelportal.org/query/uniprot/Q8IWT1 PubMed 12930796 http://www.ncbi.nlm.nih.gov/pubmed/12930796 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16554811 http://www.ncbi.nlm.nih.gov/pubmed/16554811 PubMed 17592081 http://www.ncbi.nlm.nih.gov/pubmed/17592081 PubMed 21051419 http://www.ncbi.nlm.nih.gov/pubmed/21051419 PubMed 23604097 http://www.ncbi.nlm.nih.gov/pubmed/23604097 PubMed 24297919 http://www.ncbi.nlm.nih.gov/pubmed/24297919 Reactome R-HSA-445095 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-445095 Reactome R-HSA-5576892 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576892 RefSeq NP_001135820 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001135820 RefSeq NP_001135821 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001135821 RefSeq NP_777594 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_777594 SMART SM00409 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00409 SMR Q8IWT1 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q8IWT1 STRING 9606.ENSP00000322460 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000322460&targetmode=cogs SUPFAM SSF48726 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48726 TCDB 8.A.17.2 http://www.tcdb.org/search/result.php?tc=8.A.17.2 UCSC uc001pse http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001pse&org=rat UniGene Hs.65239 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.65239 UniProtKB SCN4B_HUMAN http://www.uniprot.org/uniprot/SCN4B_HUMAN UniProtKB-AC Q8IWT1 http://www.uniprot.org/uniprot/Q8IWT1 charge swissprot:SCN4B_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SCN4B_HUMAN eggNOG ENOG410IXQZ http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IXQZ eggNOG ENOG4111PJ2 http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111PJ2 epestfind swissprot:SCN4B_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SCN4B_HUMAN garnier swissprot:SCN4B_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SCN4B_HUMAN helixturnhelix swissprot:SCN4B_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SCN4B_HUMAN hmoment swissprot:SCN4B_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SCN4B_HUMAN iep swissprot:SCN4B_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SCN4B_HUMAN inforesidue swissprot:SCN4B_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SCN4B_HUMAN neXtProt NX_Q8IWT1 http://www.nextprot.org/db/entry/NX_Q8IWT1 octanol swissprot:SCN4B_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SCN4B_HUMAN pepcoil swissprot:SCN4B_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SCN4B_HUMAN pepdigest swissprot:SCN4B_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SCN4B_HUMAN pepinfo swissprot:SCN4B_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SCN4B_HUMAN pepnet swissprot:SCN4B_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SCN4B_HUMAN pepstats swissprot:SCN4B_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SCN4B_HUMAN pepwheel swissprot:SCN4B_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SCN4B_HUMAN pepwindow swissprot:SCN4B_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SCN4B_HUMAN sigcleave swissprot:SCN4B_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SCN4B_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S36A1_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q7Z2H8-1; Sequence=Displayed; Name=2; IsoId=Q7Z2H8-3; Sequence=VSP_044392; Name=3; IsoId=Q7Z2H8-4; Sequence=VSP_044390, VSP_044391; # AltName S36A1_HUMAN Solute carrier family 36 member 1 # BioGrid 128503 3 # CCDS CCDS4316 -. [Q7Z2H8-1] # CCDS CCDS78073 -. [Q7Z2H8-4] # CCDS CCDS83035 -. [Q7Z2H8-3] # ChiTaRS SLC36A1 human # DrugBank DB00145 Glycine # DrugBank DB00160 L-Alanine # DrugBank DB00659 Acamprosate # DrugBank DB01080 Vigabatrin # DrugBank DB08835 Spaglumic Acid # DrugBank DB08847 Hydroxyproline # Ensembl ENST00000243389 ENSP00000243389; ENSG00000123643. [Q7Z2H8-1] # Ensembl ENST00000429484 ENSP00000395640; ENSG00000123643. [Q7Z2H8-4] # Ensembl ENST00000520701 ENSP00000428140; ENSG00000123643. [Q7Z2H8-1] # Ensembl ENST00000616007 ENSP00000480948; ENSG00000123643. [Q7Z2H8-3] # ExpressionAtlas Q7Z2H8 baseline and differential # FUNCTION S36A1_HUMAN Neutral amino acid/proton symporter. Has a pH-dependent electrogenic transport activity for small amino acids such as glycine, alanine and proline. Besides small apolar L-amino acids, it also recognize their D-enantiomers and selected amino acid derivatives such as gamma-aminobutyric acid (By similarity). {ECO 0000250, ECO 0000269|PubMed 12809675}. # GO_component GO:0005765 lysosomal membrane; IDA:UniProtKB. # GO_component GO:0005783 endoplasmic reticulum; IDA:LIFEdb. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0015078 hydrogen ion transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015171 amino acid transmembrane transporter activity; TAS:Reactome. # GO_function GO:0015180 L-alanine transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015187 glycine transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015193 L-proline transmembrane transporter activity; IBA:GO_Central. # GO_function S36A1_HUMAN GO 0005280 hydrogen amino acid symporter activity; IBA GO_Central. # GO_process GO:0006811 ion transport; TAS:Reactome. # GO_process GO:0006865 amino acid transport; TAS:Reactome. # GO_process GO:0015816 glycine transport; IBA:GO_Central. # GO_process GO:0015824 proline transport; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # Genevisible Q7Z2H8 HS # HGNC HGNC:18761 SLC36A1 # IntAct Q7Z2H8 7 # InterPro IPR013057 AA_transpt_TM # KEGG_Brite ko02001 Solute carrier family # MIM 606561 gene # Organism S36A1_HUMAN Homo sapiens (Human) # Pfam PF01490 Aa_trans # Proteomes UP000005640 Chromosome 5 # Reactome R-HSA-352230 Amino acid transport across the plasma membrane # Reactome R-HSA-428559 Proton-coupled neutral amino acid transporters # RecName S36A1_HUMAN Proton-coupled amino acid transporter 1 # RefSeq NP_001295079 NM_001308150.1. [Q7Z2H8-3] # RefSeq NP_001295080 NM_001308151.1. [Q7Z2H8-4] # RefSeq NP_510968 NM_078483.3. [Q7Z2H8-1] # RefSeq XP_005268443 XM_005268386.1. [Q7Z2H8-1] # RefSeq XP_011535883 XM_011537581.1. [Q7Z2H8-1] # RefSeq XP_011535885 XM_011537583.2. [Q7Z2H8-1] # RefSeq XP_011535886 XM_011537584.2. [Q7Z2H8-1] # RefSeq XP_011535887 XM_011537585.1. [Q7Z2H8-1] # RefSeq XP_011535888 XM_011537586.2. [Q7Z2H8-1] # RefSeq XP_011535889 XM_011537587.2. [Q7Z2H8-1] # RefSeq XP_011535890 XM_011537588.2. [Q7Z2H8-1] # RefSeq XP_011535891 XM_011537589.2. [Q7Z2H8-1] # RefSeq XP_011535892 XM_011537590.1. [Q7Z2H8-1] # RefSeq XP_011535893 XM_011537591.1. [Q7Z2H8-1] # RefSeq XP_011535894 XM_011537592.2. [Q7Z2H8-1] # RefSeq XP_016864705 XM_017009216.1. [Q7Z2H8-1] # RefSeq XP_016864709 XM_017009220.1. [Q7Z2H8-4] # SEQUENCE CAUTION Sequence=BAB71435.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the amino acid/polyamine transporter 2 family. {ECO 0000305}. # SUBCELLULAR LOCATION S36A1_HUMAN Cell membrane {ECO 0000250|UniProtKB Q924A5}; Multi-pass membrane protein {ECO 0000255}. Lysosome membrane {ECO 0000269|PubMed 17897319}; Multi-pass membrane protein {ECO 0000269|PubMed 17897319}. Note=In neurons, colocalizes with the exocyst complex in the axonal processes. {ECO 0000250|UniProtKB Q924A5}. # TCDB 2.A.18.8 the amino acid/auxin permease (aaap) family # TopDownProteomics Q7Z2H8-1 -. [Q7Z2H8-1] # UCSC uc003luc human. [Q7Z2H8-1] # eggNOG COG0814 LUCA # eggNOG KOG1304 Eukaryota BLAST swissprot:S36A1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S36A1_HUMAN COXPRESdb 206358 http://coxpresdb.jp/data/gene/206358.shtml CleanEx HS_SLC36A1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC36A1 DOI 10.1007/s00335-003-2319-3 http://dx.doi.org/10.1007/s00335-003-2319-3 DOI 10.1016/S0888-7543(03)00099-5 http://dx.doi.org/10.1016/S0888-7543(03)00099-5 DOI 10.1038/nature02919 http://dx.doi.org/10.1038/nature02919 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.M109.023713 http://dx.doi.org/10.1074/jbc.M109.023713 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1600-0854.2007.00643.x http://dx.doi.org/10.1111/j.1600-0854.2007.00643.x DOI 10.1113/jphysiol.2002.026500 http://dx.doi.org/10.1113/jphysiol.2002.026500 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 DrugBank DB00145 http://www.drugbank.ca/drugs/DB00145 DrugBank DB00160 http://www.drugbank.ca/drugs/DB00160 DrugBank DB00659 http://www.drugbank.ca/drugs/DB00659 DrugBank DB01080 http://www.drugbank.ca/drugs/DB01080 DrugBank DB08835 http://www.drugbank.ca/drugs/DB08835 DrugBank DB08847 http://www.drugbank.ca/drugs/DB08847 EMBL AC034205 http://www.ebi.ac.uk/ena/data/view/AC034205 EMBL AF516142 http://www.ebi.ac.uk/ena/data/view/AF516142 EMBL AK057340 http://www.ebi.ac.uk/ena/data/view/AK057340 EMBL AY162213 http://www.ebi.ac.uk/ena/data/view/AY162213 EMBL AY227111 http://www.ebi.ac.uk/ena/data/view/AY227111 EMBL AY227112 http://www.ebi.ac.uk/ena/data/view/AY227112 EMBL AY227113 http://www.ebi.ac.uk/ena/data/view/AY227113 EMBL BC136437 http://www.ebi.ac.uk/ena/data/view/BC136437 EMBL BC136438 http://www.ebi.ac.uk/ena/data/view/BC136438 EMBL BK001052 http://www.ebi.ac.uk/ena/data/view/BK001052 EMBL BX537963 http://www.ebi.ac.uk/ena/data/view/BX537963 Ensembl ENST00000243389 http://www.ensembl.org/id/ENST00000243389 Ensembl ENST00000429484 http://www.ensembl.org/id/ENST00000429484 Ensembl ENST00000520701 http://www.ensembl.org/id/ENST00000520701 Ensembl ENST00000616007 http://www.ensembl.org/id/ENST00000616007 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005765 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005765 GO_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005280 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005280 GO_function GO:0015078 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015078 GO_function GO:0015171 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015171 GO_function GO:0015180 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015180 GO_function GO:0015187 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015187 GO_function GO:0015193 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015193 GO_process GO:0006811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006811 GO_process GO:0006865 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006865 GO_process GO:0015816 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015816 GO_process GO:0015824 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015824 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GeneCards SLC36A1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC36A1 GeneID 206358 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=206358 GeneTree ENSGT00390000011245 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000011245 HGNC HGNC:18761 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:18761 HOGENOM HOG000171648 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000171648&db=HOGENOM6 HOVERGEN HBG057183 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG057183&db=HOVERGEN HPA HPA035937 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA035937 InParanoid Q7Z2H8 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q7Z2H8 IntAct Q7Z2H8 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q7Z2H8* InterPro IPR013057 http://www.ebi.ac.uk/interpro/entry/IPR013057 Jabion 206358 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=206358 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:206358 http://www.genome.jp/dbget-bin/www_bget?hsa:206358 KEGG_Orthology KO:K14209 http://www.genome.jp/dbget-bin/www_bget?KO:K14209 MIM 606561 http://www.ncbi.nlm.nih.gov/omim/606561 MINT MINT-4722054 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-4722054 OMA SHWGRRI http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=SHWGRRI OrthoDB EOG091G079T http://cegg.unige.ch/orthodb/results?searchtext=EOG091G079T PSORT swissprot:S36A1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S36A1_HUMAN PSORT-B swissprot:S36A1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S36A1_HUMAN PSORT2 swissprot:S36A1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S36A1_HUMAN Pfam PF01490 http://pfam.xfam.org/family/PF01490 PharmGKB PA134870308 http://www.pharmgkb.org/do/serve?objId=PA134870308&objCls=Gene Phobius swissprot:S36A1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S36A1_HUMAN PhylomeDB Q7Z2H8 http://phylomedb.org/?seqid=Q7Z2H8 ProteinModelPortal Q7Z2H8 http://www.proteinmodelportal.org/query/uniprot/Q7Z2H8 PubMed 12527723 http://www.ncbi.nlm.nih.gov/pubmed/12527723 PubMed 12809675 http://www.ncbi.nlm.nih.gov/pubmed/12809675 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15058382 http://www.ncbi.nlm.nih.gov/pubmed/15058382 PubMed 15372022 http://www.ncbi.nlm.nih.gov/pubmed/15372022 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 17897319 http://www.ncbi.nlm.nih.gov/pubmed/17897319 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 PubMed 19549785 http://www.ncbi.nlm.nih.gov/pubmed/19549785 Reactome R-HSA-352230 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-352230 Reactome R-HSA-428559 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-428559 RefSeq NP_001295079 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001295079 RefSeq NP_001295080 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001295080 RefSeq NP_510968 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_510968 RefSeq XP_005268443 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005268443 RefSeq XP_011535883 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011535883 RefSeq XP_011535885 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011535885 RefSeq XP_011535886 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011535886 RefSeq XP_011535887 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011535887 RefSeq XP_011535888 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011535888 RefSeq XP_011535889 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011535889 RefSeq XP_011535890 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011535890 RefSeq XP_011535891 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011535891 RefSeq XP_011535892 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011535892 RefSeq XP_011535893 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011535893 RefSeq XP_011535894 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011535894 RefSeq XP_016864705 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016864705 RefSeq XP_016864709 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016864709 STRING 9606.ENSP00000243389 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000243389&targetmode=cogs TCDB 2.A.18.8 http://www.tcdb.org/search/result.php?tc=2.A.18.8 UCSC uc003luc http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003luc&org=rat UniGene Hs.269004 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.269004 UniProtKB S36A1_HUMAN http://www.uniprot.org/uniprot/S36A1_HUMAN UniProtKB-AC Q7Z2H8 http://www.uniprot.org/uniprot/Q7Z2H8 charge swissprot:S36A1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S36A1_HUMAN eggNOG COG0814 http://eggnogapi.embl.de/nog_data/html/tree/COG0814 eggNOG KOG1304 http://eggnogapi.embl.de/nog_data/html/tree/KOG1304 epestfind swissprot:S36A1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S36A1_HUMAN garnier swissprot:S36A1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S36A1_HUMAN helixturnhelix swissprot:S36A1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S36A1_HUMAN hmoment swissprot:S36A1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S36A1_HUMAN iep swissprot:S36A1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S36A1_HUMAN inforesidue swissprot:S36A1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S36A1_HUMAN neXtProt NX_Q7Z2H8 http://www.nextprot.org/db/entry/NX_Q7Z2H8 octanol swissprot:S36A1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S36A1_HUMAN pepcoil swissprot:S36A1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S36A1_HUMAN pepdigest swissprot:S36A1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S36A1_HUMAN pepinfo swissprot:S36A1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S36A1_HUMAN pepnet swissprot:S36A1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S36A1_HUMAN pepstats swissprot:S36A1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S36A1_HUMAN pepwheel swissprot:S36A1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S36A1_HUMAN pepwindow swissprot:S36A1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S36A1_HUMAN sigcleave swissprot:S36A1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S36A1_HUMAN ## Database ID URL or Descriptions # AltName XPO7_HUMAN Ran-binding protein 16 # BioGrid 116678 88 # ChiTaRS XPO7 human # Ensembl ENST00000252512 ENSP00000252512; ENSG00000130227 # ExpressionAtlas Q9UIA9 baseline and differential # FUNCTION XPO7_HUMAN Mediates the nuclear export of proteins (cargos) with broad substrate specificity. In the nucleus binds cooperatively to its cargo and to the GTPase Ran in its active GTP-bound form. Docking of this trimeric complex to the nuclear pore complex (NPC) is mediated through binding to nucleoporins. Upon transit of a nuclear export complex into the cytoplasm, disassembling of the complex and hydrolysis of Ran-GTP to Ran-GDP (induced by RANBP1 and RANGAP1, respectively) cause release of the cargo from the export receptor. XPO7 then return to the nuclear compartment and mediate another round of transport. The directionality of nuclear export is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. {ECO 0000269|PubMed 11024021, ECO 0000269|PubMed 15282546}. # GO_component GO:0005634 nucleus; IDA:UniProtKB. # GO_component GO:0005643 nuclear pore; IDA:UniProtKB. # GO_component GO:0005737 cytoplasm; IDA:UniProtKB. # GO_function GO:0005049 nuclear export signal receptor activity; IDA:UniProtKB. # GO_function GO:0008536 Ran GTPase binding; IBA:GO_Central. # GO_process GO:0006611 protein export from nucleus; IDA:UniProtKB. # GO_process GO:0051028 mRNA transport; IEA:UniProtKB-KW. # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0043234 protein complex # GOslim_function GO:0008565 protein transporter activity # GOslim_function GO:0019899 enzyme binding # GOslim_process GO:0006810 transport # GOslim_process GO:0006913 nucleocytoplasmic transport # Genevisible Q9UIA9 HS # HGNC HGNC:14108 XPO7 # INTERACTION XPO7_HUMAN P62826 RAN; NbExp=3; IntAct=EBI-286668, EBI-286642; O60763 USO1; NbExp=3; IntAct=EBI-286668, EBI-356164; # IntAct Q9UIA9 11 # InterPro IPR001494 Importin-beta_N # InterPro IPR016024 ARM-type_fold # MIM 606140 gene # Organism XPO7_HUMAN Homo sapiens (Human) # PROSITE PS50166 IMPORTIN_B_NT # Pfam PF03810 IBN_N # Proteomes UP000005640 Chromosome 8 # RecName XPO7_HUMAN Exportin-7 # RefSeq NP_055839 NM_015024.4 # SEQUENCE CAUTION Sequence=BAA34465.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the exportin family. {ECO 0000305}. # SIMILARITY Contains 1 importin N-terminal domain. {ECO:0000255|PROSITE-ProRule PRU00115}. # SMART SM00913 IBN_N # SUBCELLULAR LOCATION XPO7_HUMAN Cytoplasm. Nucleus {ECO 0000305}. Nucleus, nuclear pore complex {ECO 0000305}. Note=Shuttles between the nucleus and the cytoplasm. {ECO 0000305}. # SUBUNIT XPO7_HUMAN Binds to nucleoporins. Found in a complex with XPO7, EIF4A1, ARHGAP1, VPS26A, VPS29, VPS35 and SFN. Interacts with ARHGAP1 and SFN. Interacts with Ran and cargo proteins in a GTP- dependent manner. {ECO 0000269|PubMed 11024021, ECO 0000269|PubMed 15282546}. # SUPFAM SSF48371 SSF48371; 3 # TCDB 1.I.1.1 the nuclear pore complex (npc) family # TISSUE SPECIFICITY XPO7_HUMAN Strong expression in testis, thyroid and bone marrow, low expression in lung, liver and small intestine, no expression in thymus, and remaining tissues studied have moderate expression. Expressed in red blood cells; overexpressed in red blood cells (cytoplasm) of patients with hereditary non- spherocytic hemolytic anemia of unknown etiology. {ECO 0000269|PubMed 11071879, ECO 0000269|PubMed 22509282}. # UCSC uc003xaa human # eggNOG ENOG410XRPR LUCA # eggNOG KOG1410 Eukaryota BLAST swissprot:XPO7_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:XPO7_HUMAN BioCyc ZFISH:ENSG00000130227-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000130227-MONOMER COXPRESdb 23039 http://coxpresdb.jp/data/gene/23039.shtml CleanEx HS_XPO7 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_XPO7 DOI 10.1006/bbrc.2000.3788 http://dx.doi.org/10.1006/bbrc.2000.3788 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/ac9004309 http://dx.doi.org/10.1021/ac9004309 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/sj.emboj.7600338 http://dx.doi.org/10.1038/sj.emboj.7600338 DOI 10.1074/jbc.M006242200 http://dx.doi.org/10.1074/jbc.M006242200 DOI 10.1093/dnares/5.5.277 http://dx.doi.org/10.1093/dnares/5.5.277 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DOI 10.1371/journal.pone.0034237 http://dx.doi.org/10.1371/journal.pone.0034237 EMBL AB018288 http://www.ebi.ac.uk/ena/data/view/AB018288 EMBL AF064729 http://www.ebi.ac.uk/ena/data/view/AF064729 EMBL BC014219 http://www.ebi.ac.uk/ena/data/view/BC014219 EMBL BC030785 http://www.ebi.ac.uk/ena/data/view/BC030785 Ensembl ENST00000252512 http://www.ensembl.org/id/ENST00000252512 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005643 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005643 GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_function GO:0005049 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005049 GO_function GO:0008536 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008536 GO_process GO:0006611 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006611 GO_process GO:0051028 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051028 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_function GO:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006913 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006913 GeneCards XPO7 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=XPO7 GeneID 23039 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=23039 GeneTree ENSGT00730000110927 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00730000110927 HGNC HGNC:14108 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:14108 HOGENOM HOG000018865 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000018865&db=HOGENOM6 HOVERGEN HBG018869 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG018869&db=HOVERGEN HPA HPA043727 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA043727 HPA HPA048153 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA048153 InParanoid Q9UIA9 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9UIA9 IntAct Q9UIA9 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9UIA9* InterPro IPR001494 http://www.ebi.ac.uk/interpro/entry/IPR001494 InterPro IPR016024 http://www.ebi.ac.uk/interpro/entry/IPR016024 Jabion 23039 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=23039 KEGG_Gene hsa:23039 http://www.genome.jp/dbget-bin/www_bget?hsa:23039 MIM 606140 http://www.ncbi.nlm.nih.gov/omim/606140 MINT MINT-1151570 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1151570 PROSITE PS50166 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50166 PSORT swissprot:XPO7_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:XPO7_HUMAN PSORT-B swissprot:XPO7_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:XPO7_HUMAN PSORT2 swissprot:XPO7_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:XPO7_HUMAN Pfam PF03810 http://pfam.xfam.org/family/PF03810 PharmGKB PA34207 http://www.pharmgkb.org/do/serve?objId=PA34207&objCls=Gene Phobius swissprot:XPO7_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:XPO7_HUMAN PhylomeDB Q9UIA9 http://phylomedb.org/?seqid=Q9UIA9 ProteinModelPortal Q9UIA9 http://www.proteinmodelportal.org/query/uniprot/Q9UIA9 PubMed 11024021 http://www.ncbi.nlm.nih.gov/pubmed/11024021 PubMed 11071879 http://www.ncbi.nlm.nih.gov/pubmed/11071879 PubMed 15282546 http://www.ncbi.nlm.nih.gov/pubmed/15282546 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 19413330 http://www.ncbi.nlm.nih.gov/pubmed/19413330 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 22509282 http://www.ncbi.nlm.nih.gov/pubmed/22509282 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 9872452 http://www.ncbi.nlm.nih.gov/pubmed/9872452 RefSeq NP_055839 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_055839 SMART SM00913 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00913 STRING 9606.ENSP00000252512 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000252512&targetmode=cogs SUPFAM SSF48371 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48371 TCDB 1.I.1.1 http://www.tcdb.org/search/result.php?tc=1.I.1.1 UCSC uc003xaa http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003xaa&org=rat UniGene Hs.172685 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.172685 UniProtKB XPO7_HUMAN http://www.uniprot.org/uniprot/XPO7_HUMAN UniProtKB-AC Q9UIA9 http://www.uniprot.org/uniprot/Q9UIA9 charge swissprot:XPO7_HUMAN http://rest.g-language.org/emboss/charge/swissprot:XPO7_HUMAN eggNOG ENOG410XRPR http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XRPR eggNOG KOG1410 http://eggnogapi.embl.de/nog_data/html/tree/KOG1410 epestfind swissprot:XPO7_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:XPO7_HUMAN garnier swissprot:XPO7_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:XPO7_HUMAN helixturnhelix swissprot:XPO7_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:XPO7_HUMAN hmoment swissprot:XPO7_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:XPO7_HUMAN iep swissprot:XPO7_HUMAN http://rest.g-language.org/emboss/iep/swissprot:XPO7_HUMAN inforesidue swissprot:XPO7_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:XPO7_HUMAN neXtProt NX_Q9UIA9 http://www.nextprot.org/db/entry/NX_Q9UIA9 octanol swissprot:XPO7_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:XPO7_HUMAN pepcoil swissprot:XPO7_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:XPO7_HUMAN pepdigest swissprot:XPO7_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:XPO7_HUMAN pepinfo swissprot:XPO7_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:XPO7_HUMAN pepnet swissprot:XPO7_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:XPO7_HUMAN pepstats swissprot:XPO7_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:XPO7_HUMAN pepwheel swissprot:XPO7_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:XPO7_HUMAN pepwindow swissprot:XPO7_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:XPO7_HUMAN sigcleave swissprot:XPO7_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:XPO7_HUMAN ## Database ID URL or Descriptions # AltName YLAT2_HUMAN Cationic amino acid transporter, y+ system # AltName YLAT2_HUMAN Solute carrier family 7 member 6 # AltName YLAT2_HUMAN y(+)L-type amino acid transporter 2 # BIOPHYSICOCHEMICAL PROPERTIES YLAT2_HUMAN Kinetic parameters KM=295 uM for glutamine (in the presence of NaCl) {ECO 0000269|PubMed 10903140}; KM=236 uM for leucine (in the presence of NaCl) {ECO 0000269|PubMed 10903140}; KM=120 uM for arginine (in the presence of NaCl) {ECO 0000269|PubMed 10903140}; KM=138 uM for arginine (in the absence of NaCl) {ECO 0000269|PubMed 10903140}; # ChiTaRS SLC7A6 human # ENZYME REGULATION YLAT2_HUMAN Arginine transport is strongly inhibited by lysine, glutamate, leucine, glutamine, methionine and histidine, in the presence of Na(+). Also inhibited by protein kinase C (PKC) and treatment with phorbol-12-myristate-13-acetate (PMA). Mutual inhibition is observed when leucine or glutamine is used as substrate. Inhibition of arginine and leucine uptake also occurs when SLC3A2/4F2hc is either truncated at its C-terminus or mutated at critical residues within the terminal 15 amino acids. # Ensembl ENST00000219343 ENSP00000219343; ENSG00000103064 # Ensembl ENST00000566454 ENSP00000455064; ENSG00000103064 # ExpressionAtlas Q92536 baseline and differential # FUNCTION YLAT2_HUMAN Involved in the sodium-independent uptake of dibasic amino acids and sodium-dependent uptake of some neutral amino acids. Requires coexpression with SLC3A2/4F2hc to mediate the uptake of arginine, leucine and glutamine. Also acts as an arginine/glutamine exchanger, following an antiport mechanism for amino acid transport, influencing arginine release in exchange for extracellular amino acids. Plays a role in nitric oxide synthesis in human umbilical vein endothelial cells (HUVECs) via transport of L-arginine. Involved in the transport of L-arginine in monocytes. Reduces uptake of ornithine in retinal pigment epithelial (RPE) cells. {ECO 0000269|PubMed 10903140, ECO 0000269|PubMed 11311135, ECO 0000269|PubMed 14603368, ECO 0000269|PubMed 15280038, ECO 0000269|PubMed 16785209, ECO 0000269|PubMed 17197568, ECO 0000269|PubMed 17329401, ECO 0000269|PubMed 9829974}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0016323 basolateral plasma membrane; IEA:UniProtKB-SubCell. # GO_function GO:0015171 amino acid transmembrane transporter activity; TAS:ProtInc. # GO_function GO:0015179 L-amino acid transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015297 antiporter activity; IBA:GO_Central. # GO_process GO:0006461 protein complex assembly; TAS:ProtInc. # GO_process GO:0006520 cellular amino acid metabolic process; TAS:ProtInc. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0006865 amino acid transport; TAS:Reactome. # GO_process GO:0050900 leukocyte migration; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0002376 immune system process # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006520 cellular amino acid metabolic process # GOslim_process GO:0006810 transport # GOslim_process GO:0048870 cell motility # Genevisible Q92536 HS # HGNC HGNC:11064 SLC7A6 # InterPro IPR002293 AA/rel_permease1 # KEGG_Brite ko02001 Solute carrier family # MIM 605641 gene # Organism YLAT2_HUMAN Homo sapiens (Human) # PANTHER PTHR11785 PTHR11785 # PIRSF PIRSF006060 AA_transporter # Pfam PF13520 AA_permease_2 # Proteomes UP000005640 Chromosome 16 # Reactome R-HSA-210991 Basigin interactions # Reactome R-HSA-352230 Amino acid transport across the plasma membrane # RecName YLAT2_HUMAN Y+L amino acid transporter 2 # RefSeq NP_001070253 NM_001076785.2 # RefSeq NP_003974 NM_003983.5 # RefSeq XP_011521735 XM_011523433.1 # RefSeq XP_011521736 XM_011523434.1 # RefSeq XP_011521740 XM_011523438.1 # SEQUENCE CAUTION Sequence=BAA13376.2; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the amino acid-polyamine-organocation (APC) superfamily. L-type amino acid transporter (LAT) (TC 2.A.3.8) family. {ECO 0000255}. # SUBCELLULAR LOCATION YLAT2_HUMAN Basolateral cell membrane {ECO 0000269|PubMed 15756301, ECO 0000269|PubMed 16785209}; Multi- pass membrane protein {ECO 0000269|PubMed 15756301, ECO 0000269|PubMed 16785209}. # SUBUNIT YLAT2_HUMAN Disulfide-linked heterodimer with the amino acid transport protein SLC3A2/4F2hc. {ECO 0000269|PubMed 11311135, ECO 0000269|PubMed 16785209}. # TCDB 2.A.3.8.23 the amino acid-polyamine-organocation (apc) family # TISSUE SPECIFICITY YLAT2_HUMAN Expressed in normal fibroblasts and those from LPI patients. Also expressed in HUVECs, monocytes, RPE cells, and various carcinoma cell lines. {ECO 0000269|PubMed 11078698, ECO 0000269|PubMed 11742806, ECO 0000269|PubMed 14603368, ECO 0000269|PubMed 15280038, ECO 0000269|PubMed 17197568, ECO 0000269|PubMed 17329401}. # UCSC uc002evt human # eggNOG COG0531 LUCA # eggNOG KOG1287 Eukaryota BLAST swissprot:YLAT2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:YLAT2_HUMAN BioCyc MetaCyc:ENSG00000103064-MONOMER http://biocyc.org/getid?id=MetaCyc:ENSG00000103064-MONOMER BioCyc ZFISH:ENSG00000103064-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000103064-MONOMER COXPRESdb 9057 http://coxpresdb.jp/data/gene/9057.shtml CleanEx HS_SLC7A6 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC7A6 DOI 10.1016/j.febslet.2004.06.086 http://dx.doi.org/10.1016/j.febslet.2004.06.086 DOI 10.1038/sj.ejhg.5201376 http://dx.doi.org/10.1038/sj.ejhg.5201376 DOI 10.1042/bj3490787 http://dx.doi.org/10.1042/bj3490787 DOI 10.1074/jbc.273.49.32437 http://dx.doi.org/10.1074/jbc.273.49.32437 DOI 10.1080/09687860600652968 http://dx.doi.org/10.1080/09687860600652968 DOI 10.1093/dnares/3.5.321 http://dx.doi.org/10.1093/dnares/3.5.321 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1113/eph8802647 http://dx.doi.org/10.1113/eph8802647 DOI 10.1152/ajpcell.00323.2006 http://dx.doi.org/10.1152/ajpcell.00323.2006 DOI 10.1167/iovs.06-0398 http://dx.doi.org/10.1167/iovs.06-0398 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 EMBL BC028216 http://www.ebi.ac.uk/ena/data/view/BC028216 EMBL CH471092 http://www.ebi.ac.uk/ena/data/view/CH471092 EMBL CR749291 http://www.ebi.ac.uk/ena/data/view/CR749291 EMBL D87432 http://www.ebi.ac.uk/ena/data/view/D87432 Ensembl ENST00000219343 http://www.ensembl.org/id/ENST00000219343 Ensembl ENST00000566454 http://www.ensembl.org/id/ENST00000566454 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016323 GO_function GO:0015171 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015171 GO_function GO:0015179 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015179 GO_function GO:0015297 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015297 GO_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GO_process GO:0006520 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006520 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0006865 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006865 GO_process GO:0050900 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050900 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0002376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002376 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006520 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006520 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0048870 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048870 GeneCards SLC7A6 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC7A6 GeneID 9057 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=9057 GeneTree ENSGT00760000119037 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119037 H-InvDB HIX0013172 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0013172 HGNC HGNC:11064 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11064 HOGENOM HOG000098892 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000098892&db=HOGENOM6 HOVERGEN HBG000476 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG000476&db=HOVERGEN HPA HPA050713 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA050713 InParanoid Q92536 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q92536 IntAct Q92536 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q92536* InterPro IPR002293 http://www.ebi.ac.uk/interpro/entry/IPR002293 Jabion 9057 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=9057 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:9057 http://www.genome.jp/dbget-bin/www_bget?hsa:9057 KEGG_Orthology KO:K13872 http://www.genome.jp/dbget-bin/www_bget?KO:K13872 MIM 605641 http://www.ncbi.nlm.nih.gov/omim/605641 OMA GSSWDVG http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=GSSWDVG OrthoDB EOG091G07EM http://cegg.unige.ch/orthodb/results?searchtext=EOG091G07EM PANTHER PTHR11785 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11785 PSORT swissprot:YLAT2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:YLAT2_HUMAN PSORT-B swissprot:YLAT2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:YLAT2_HUMAN PSORT2 swissprot:YLAT2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:YLAT2_HUMAN Pfam PF13520 http://pfam.xfam.org/family/PF13520 PharmGKB PA35924 http://www.pharmgkb.org/do/serve?objId=PA35924&objCls=Gene Phobius swissprot:YLAT2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:YLAT2_HUMAN PhylomeDB Q92536 http://phylomedb.org/?seqid=Q92536 ProteinModelPortal Q92536 http://www.proteinmodelportal.org/query/uniprot/Q92536 PubMed 10903140 http://www.ncbi.nlm.nih.gov/pubmed/10903140 PubMed 11078698 http://www.ncbi.nlm.nih.gov/pubmed/11078698 PubMed 11311135 http://www.ncbi.nlm.nih.gov/pubmed/11311135 PubMed 11742806 http://www.ncbi.nlm.nih.gov/pubmed/11742806 PubMed 14603368 http://www.ncbi.nlm.nih.gov/pubmed/14603368 PubMed 15280038 http://www.ncbi.nlm.nih.gov/pubmed/15280038 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15756301 http://www.ncbi.nlm.nih.gov/pubmed/15756301 PubMed 16785209 http://www.ncbi.nlm.nih.gov/pubmed/16785209 PubMed 17197568 http://www.ncbi.nlm.nih.gov/pubmed/17197568 PubMed 17329401 http://www.ncbi.nlm.nih.gov/pubmed/17329401 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 PubMed 9039502 http://www.ncbi.nlm.nih.gov/pubmed/9039502 PubMed 9829974 http://www.ncbi.nlm.nih.gov/pubmed/9829974 Reactome R-HSA-210991 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-210991 Reactome R-HSA-352230 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-352230 RefSeq NP_001070253 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001070253 RefSeq NP_003974 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_003974 RefSeq XP_011521735 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011521735 RefSeq XP_011521736 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011521736 RefSeq XP_011521740 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011521740 STRING 9606.ENSP00000219343 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000219343&targetmode=cogs TCDB 2.A.3.8.23 http://www.tcdb.org/search/result.php?tc=2.A.3.8.23 UCSC uc002evt http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002evt&org=rat UniGene Hs.679580 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.679580 UniProtKB YLAT2_HUMAN http://www.uniprot.org/uniprot/YLAT2_HUMAN UniProtKB-AC Q92536 http://www.uniprot.org/uniprot/Q92536 charge swissprot:YLAT2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:YLAT2_HUMAN eggNOG COG0531 http://eggnogapi.embl.de/nog_data/html/tree/COG0531 eggNOG KOG1287 http://eggnogapi.embl.de/nog_data/html/tree/KOG1287 epestfind swissprot:YLAT2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:YLAT2_HUMAN garnier swissprot:YLAT2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:YLAT2_HUMAN helixturnhelix swissprot:YLAT2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:YLAT2_HUMAN hmoment swissprot:YLAT2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:YLAT2_HUMAN iep swissprot:YLAT2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:YLAT2_HUMAN inforesidue swissprot:YLAT2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:YLAT2_HUMAN neXtProt NX_Q92536 http://www.nextprot.org/db/entry/NX_Q92536 octanol swissprot:YLAT2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:YLAT2_HUMAN pepcoil swissprot:YLAT2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:YLAT2_HUMAN pepdigest swissprot:YLAT2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:YLAT2_HUMAN pepinfo swissprot:YLAT2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:YLAT2_HUMAN pepnet swissprot:YLAT2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:YLAT2_HUMAN pepstats swissprot:YLAT2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:YLAT2_HUMAN pepwheel swissprot:YLAT2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:YLAT2_HUMAN pepwindow swissprot:YLAT2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:YLAT2_HUMAN sigcleave swissprot:YLAT2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:YLAT2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS ZP3_HUMAN Event=Alternative splicing; Named isoforms=3; Name=ZP3A; IsoId=P21754-1; Sequence=Displayed; Name=ZP3B; IsoId=P21754-2; Sequence=VSP_006949, VSP_006950; Note=Found in a second polymorphic locus which, due to an extra G residue in exon 8, has the potential to encode a truncated protein of 372 amino acids.; Name=3; IsoId=P21754-3; Sequence=VSP_037556; # AltName ZP3_HUMAN Sperm receptor # AltName ZP3_HUMAN ZP3A/ZP3B # AltName ZP3_HUMAN Zona pellucida glycoprotein 3 # AltName ZP3_HUMAN Zona pellucida protein C # AltName ZP3_HUMAN Zona pellucida protein C # BioGrid 113565 7 # CCDS CCDS47618 -. [P21754-1] # CCDS CCDS5586 -. [P21754-3] # DOMAIN ZP3_HUMAN The ZP domain is involved in the polymerization of the ZP proteins to form the zona pellucida. # Ensembl ENST00000336517 ENSP00000337310; ENSG00000188372. [P21754-3] # Ensembl ENST00000394857 ENSP00000378326; ENSG00000188372. [P21754-1] # ExpressionAtlas P21754 baseline and differential # FUNCTION ZP3_HUMAN The mammalian zona pellucida, which mediates species- specific sperm binding, induction of the acrosome reaction and prevents post-fertilization polyspermy, is composed of three to four glycoproteins, ZP1, ZP2, ZP3, and ZP4. ZP3 is essential for sperm binding and zona matrix formation. # GO_component GO:0002081 outer acrosomal membrane; ISS:UniProtKB. # GO_component GO:0005576 extracellular region; TAS:Reactome. # GO_component GO:0005578 proteinaceous extracellular matrix; IEA:UniProtKB-SubCell. # GO_component GO:0005615 extracellular space; IMP:UniProtKB. # GO_component GO:0005737 cytoplasm; IDA:UniProtKB. # GO_component GO:0005771 multivesicular body; ISS:UniProtKB. # GO_component GO:0005783 endoplasmic reticulum; ISS:UniProtKB. # GO_component GO:0005794 Golgi apparatus; ISS:UniProtKB. # GO_component GO:0005886 plasma membrane; ISS:UniProtKB. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0030141 secretory granule; ISS:UniProtKB. # GO_component GO:0031012 extracellular matrix; IDA:UniProtKB. # GO_component GO:0048471 perinuclear region of cytoplasm; ISS:UniProtKB. # GO_function GO:0004871 signal transducer activity; IMP:UniProtKB. # GO_function GO:0005384 manganese ion transmembrane transporter activity; ISS:UniProtKB. # GO_function GO:0015279 store-operated calcium channel activity; IDA:UniProtKB. # GO_function GO:0030246 carbohydrate binding; IDA:UniProtKB. # GO_function GO:0032190 acrosin binding; IPI:UniProtKB. # GO_process GO:0001809 positive regulation of type IV hypersensitivity; ISS:UniProtKB. # GO_process GO:0001825 blastocyst formation; ISS:UniProtKB. # GO_process GO:0002455 humoral immune response mediated by circulating immunoglobulin; ISS:UniProtKB. # GO_process GO:0002687 positive regulation of leukocyte migration; ISS:UniProtKB. # GO_process GO:0002922 positive regulation of humoral immune response; IDA:UniProtKB. # GO_process GO:0006828 manganese ion transport; ISS:UniProtKB. # GO_process GO:0006886 intracellular protein transport; ISS:UniProtKB. # GO_process GO:0007339 binding of sperm to zona pellucida; IDA:UniProtKB. # GO_process GO:0010513 positive regulation of phosphatidylinositol biosynthetic process; ISS:UniProtKB. # GO_process GO:0032729 positive regulation of interferon-gamma production; ISS:UniProtKB. # GO_process GO:0032753 positive regulation of interleukin-4 production; ISS:UniProtKB. # GO_process GO:0035556 intracellular signal transduction; IMP:UniProtKB. # GO_process GO:0035803 egg coat formation; ISS:UniProtKB. # GO_process GO:0042102 positive regulation of T cell proliferation; ISS:UniProtKB. # GO_process GO:0045860 positive regulation of protein kinase activity; IDA:UniProtKB. # GO_process GO:0045892 negative regulation of transcription, DNA-templated; ISS:UniProtKB. # GO_process GO:0045893 positive regulation of transcription, DNA-templated; ISS:UniProtKB. # GO_process GO:0048015 phosphatidylinositol-mediated signaling; ISS:UniProtKB. # GO_process GO:0048599 oocyte development; ISS:UniProtKB. # GO_process GO:0050729 positive regulation of inflammatory response; ISS:UniProtKB. # GO_process GO:0051897 positive regulation of protein kinase B signaling; ISS:UniProtKB. # GO_process GO:0070528 protein kinase C signaling; IMP:UniProtKB. # GO_process GO:0090280 positive regulation of calcium ion import; IDA:UniProtKB. # GO_process GO:2000344 positive regulation of acrosome reaction; IDA:UniProtKB. # GO_process GO:2000360 negative regulation of binding of sperm to zona pellucida; IDA:UniProtKB. # GO_process GO:2000368 positive regulation of acrosomal vesicle exocytosis; IDA:UniProtKB. # GO_process GO:2000386 positive regulation of ovarian follicle development; ISS:UniProtKB. # GO_process GO:2000388 positive regulation of antral ovarian follicle growth; ISS:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005576 extracellular region # GOslim_component GO:0005578 proteinaceous extracellular matrix # GOslim_component GO:0005615 extracellular space # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005768 endosome # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_component GO:0005794 Golgi apparatus # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0031410 cytoplasmic vesicle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0019899 enzyme binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0002376 immune system process # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0048646 anatomical structure formation involved in morphogenesis # GOslim_process GO:0048856 anatomical structure development # Genevisible P21754 HS # HGNC HGNC:13189 ZP3 # InterPro IPR001507 ZP_dom # InterPro IPR017977 ZP_dom_CS # MIM 182889 gene # Organism ZP3_HUMAN Homo sapiens (Human) # PIR A36000 A36000 # PRINTS PR00023 ZPELLUCIDA # PROSITE PS00682 ZP_1 # PROSITE PS51034 ZP_2 # PTM ZP3_HUMAN N-glycosylated. {ECO 0000250}. # PTM ZP3_HUMAN O-glycosylated; removal of O-linked glycans may play an important role in the post-fertilization block to polyspermy. {ECO 0000250}. # PTM ZP3_HUMAN Proteolytically cleaved before the transmembrane segment to yield the secreted ectodomain incorporated in the zona pellucida. {ECO 0000269|PubMed 15379548}. # Pfam PF00100 Zona_pellucida # Proteomes UP000005640 Chromosome 7 # Reactome R-HSA-1300644 Interaction With The Zona Pellucida # RecName ZP3_HUMAN Processed zona pellucida sperm-binding protein 3 # RecName ZP3_HUMAN Zona pellucida sperm-binding protein 3 # RefSeq NP_001103824 NM_001110354.1. [P21754-1] # RefSeq NP_009086 NM_007155.5. [P21754-3] # SIMILARITY Belongs to the ZP domain family. ZPC subfamily. {ECO 0000305}. # SIMILARITY Contains 1 ZP domain. {ECO:0000255|PROSITE- ProRule PRU00375}. # SMART SM00241 ZP # SUBCELLULAR LOCATION ZP3_HUMAN Cell membrane {ECO 0000250|UniProtKB P48833}; Single-pass type I membrane protein {ECO 0000255}. # SUBCELLULAR LOCATION ZP3_HUMAN Processed zona pellucida sperm-binding protein 3 Secreted, extracellular space, extracellular matrix {ECO 0000250|UniProtKB P48833}. Note=The glycoproteinaceous translucent extracellular matrix that surrounds the mammalian oocyte is called zona pellucida. {ECO 0000305}. # SUBUNIT Polymers of ZP2 and ZP3 organized into long filaments cross-linked by ZP1 homodimers. {ECO 0000250}. # TISSUE SPECIFICITY ZP3_HUMAN Oocytes. # UCSC uc003ufc human. [P21754-1] # WEB RESOURCE ZP3_HUMAN Name=Protein Spotlight; Note=Molecular chastity - Issue 93 of April 2008; URL="http //web.expasy.org/spotlight/back_issues/093"; # eggNOG ENOG410II9V Eukaryota # eggNOG ENOG410YXE1 LUCA BLAST swissprot:ZP3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ZP3_HUMAN BioCyc ZFISH:ENSG00000177546-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000177546-MONOMER COXPRESdb 7784 http://coxpresdb.jp/data/gene/7784.shtml CleanEx HS_ZP3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ZP3 DOI 10.1016/S0888-7543(05)80130-2 http://dx.doi.org/10.1016/S0888-7543(05)80130-2 DOI 10.1021/bi048958k http://dx.doi.org/10.1021/bi048958k DOI 10.1038/nature01782 http://dx.doi.org/10.1038/nature01782 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.87.16.6014 http://dx.doi.org/10.1073/pnas.87.16.6014 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AC005522 http://www.ebi.ac.uk/ena/data/view/AC005522 EMBL AK292763 http://www.ebi.ac.uk/ena/data/view/AK292763 EMBL BC113949 http://www.ebi.ac.uk/ena/data/view/BC113949 EMBL M60504 http://www.ebi.ac.uk/ena/data/view/M60504 EMBL X56777 http://www.ebi.ac.uk/ena/data/view/X56777 Ensembl ENST00000336517 http://www.ensembl.org/id/ENST00000336517 Ensembl ENST00000394857 http://www.ensembl.org/id/ENST00000394857 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0002081 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002081 GO_component GO:0005576 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005576 GO_component GO:0005578 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005578 GO_component GO:0005615 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005615 GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005771 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005771 GO_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GO_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0030141 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030141 GO_component GO:0031012 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031012 GO_component GO:0048471 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048471 GO_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GO_function GO:0005384 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005384 GO_function GO:0015279 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015279 GO_function GO:0030246 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030246 GO_function GO:0032190 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032190 GO_process GO:0001809 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001809 GO_process GO:0001825 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001825 GO_process GO:0002455 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002455 GO_process GO:0002687 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002687 GO_process GO:0002922 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002922 GO_process GO:0006828 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006828 GO_process GO:0006886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006886 GO_process GO:0007339 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007339 GO_process GO:0010513 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010513 GO_process GO:0032729 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032729 GO_process GO:0032753 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032753 GO_process GO:0035556 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035556 GO_process GO:0035803 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035803 GO_process GO:0042102 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042102 GO_process GO:0045860 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045860 GO_process GO:0045892 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045892 GO_process GO:0045893 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045893 GO_process GO:0048015 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048015 GO_process GO:0048599 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048599 GO_process GO:0050729 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050729 GO_process GO:0051897 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051897 GO_process GO:0070528 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070528 GO_process GO:0090280 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090280 GO_process GO:2000344 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000344 GO_process GO:2000360 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000360 GO_process GO:2000368 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000368 GO_process GO:2000386 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000386 GO_process GO:2000388 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000388 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005576 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005576 GOslim_component GO:0005578 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005578 GOslim_component GO:0005615 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005615 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0031410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0002376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002376 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0048646 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048646 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GeneCards ZP3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ZP3 GeneID 7784 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=7784 GeneTree ENSGT00530000063482 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000063482 HGNC HGNC:13189 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:13189 HOGENOM HOG000220813 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000220813&db=HOGENOM6 HOVERGEN HBG007985 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG007985&db=HOVERGEN HPA HPA054061 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA054061 InParanoid P21754 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P21754 InterPro IPR001507 http://www.ebi.ac.uk/interpro/entry/IPR001507 InterPro IPR017977 http://www.ebi.ac.uk/interpro/entry/IPR017977 Jabion 7784 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=7784 KEGG_Gene hsa:7784 http://www.genome.jp/dbget-bin/www_bget?hsa:7784 MIM 182889 http://www.ncbi.nlm.nih.gov/omim/182889 OMA NRRHVTE http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=NRRHVTE OrthoDB EOG091G0AQ6 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0AQ6 PRINTS PR00023 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00023 PROSITE PS00682 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00682 PROSITE PS51034 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51034 PSORT swissprot:ZP3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ZP3_HUMAN PSORT-B swissprot:ZP3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ZP3_HUMAN PSORT2 swissprot:ZP3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ZP3_HUMAN Pfam PF00100 http://pfam.xfam.org/family/PF00100 PharmGKB PA37757 http://www.pharmgkb.org/do/serve?objId=PA37757&objCls=Gene Phobius swissprot:ZP3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ZP3_HUMAN PhylomeDB P21754 http://phylomedb.org/?seqid=P21754 ProteinModelPortal P21754 http://www.proteinmodelportal.org/query/uniprot/P21754 PubMed 12853948 http://www.ncbi.nlm.nih.gov/pubmed/12853948 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 1478648 http://www.ncbi.nlm.nih.gov/pubmed/1478648 PubMed 15379548 http://www.ncbi.nlm.nih.gov/pubmed/15379548 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 2385582 http://www.ncbi.nlm.nih.gov/pubmed/2385582 Reactome R-HSA-1300644 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1300644 RefSeq NP_001103824 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001103824 RefSeq NP_009086 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_009086 SMART SM00241 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00241 SMR P21754 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P21754 STRING 9606.ENSP00000378326 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000378326&targetmode=cogs UCSC uc003ufc http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003ufc&org=rat UniGene Hs.656137 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.656137 UniProtKB ZP3_HUMAN http://www.uniprot.org/uniprot/ZP3_HUMAN UniProtKB-AC P21754 http://www.uniprot.org/uniprot/P21754 charge swissprot:ZP3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ZP3_HUMAN eggNOG ENOG410II9V http://eggnogapi.embl.de/nog_data/html/tree/ENOG410II9V eggNOG ENOG410YXE1 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410YXE1 epestfind swissprot:ZP3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ZP3_HUMAN garnier swissprot:ZP3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ZP3_HUMAN helixturnhelix swissprot:ZP3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ZP3_HUMAN hmoment swissprot:ZP3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ZP3_HUMAN iep swissprot:ZP3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ZP3_HUMAN inforesidue swissprot:ZP3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ZP3_HUMAN neXtProt NX_P21754 http://www.nextprot.org/db/entry/NX_P21754 octanol swissprot:ZP3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ZP3_HUMAN pepcoil swissprot:ZP3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ZP3_HUMAN pepdigest swissprot:ZP3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ZP3_HUMAN pepinfo swissprot:ZP3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ZP3_HUMAN pepnet swissprot:ZP3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ZP3_HUMAN pepstats swissprot:ZP3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ZP3_HUMAN pepwheel swissprot:ZP3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ZP3_HUMAN pepwindow swissprot:ZP3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ZP3_HUMAN sigcleave swissprot:ZP3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ZP3_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=A6NK97-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=A6NK97-2; Sequence=VSP_032653, VSP_032654; Note=Variant in position: 244 G->G (in dbSNP:rs514076).; # AltName S22AK_HUMAN Organic anion transporter 6 # CDD cd06174 MFS # FUNCTION S22AK_HUMAN Organic anion transporter that mediates the uptake of estrone sulfate. Inhibited by probenecid, propionate, 2- methylbutyrate, 3-methylbutyrate, benzoate, heptanoate and 2- ethylhaxanoate. May act as an odorant transporter (By similarity). {ECO 0000250}. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_function GO:0005452 inorganic anion exchanger activity; IBA:GO_Central. # GO_function GO:0015347 sodium-independent organic anion transmembrane transporter activity; IBA:GO_Central. # GO_process GO:0043252 sodium-independent organic anion transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # HGNC HGNC:29867 SLC22A20 # InterPro IPR005828 MFS_sugar_transport-like # InterPro IPR020846 MFS_dom # KEGG_Brite ko02000 Transporters # KEGG_Brite ko02001 Solute carrier family # MIM 611696 gene # Organism S22AK_HUMAN Homo sapiens (Human) # PROSITE PS50850 MFS # Pfam PF00083 Sugar_tr # Proteomes UP000005640 Unplaced # RecName S22AK_HUMAN Solute carrier family 22 member 20 # RefSeq NP_001004326 NM_001004326.4 # SEQUENCE CAUTION Sequence=BAD18487.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family. {ECO 0000305}. # SUBCELLULAR LOCATION S22AK_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # SUPFAM SSF103473 SSF103473 # TCDB 2.A.1.19.35 the major facilitator superfamily (mfs) BLAST swissprot:S22AK_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S22AK_HUMAN BioCyc ZFISH:G66-32933-MONOMER http://biocyc.org/getid?id=ZFISH:G66-32933-MONOMER COXPRESdb 440044 http://coxpresdb.jp/data/gene/440044.shtml CleanEx HS_SLC22A20 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC22A20 DOI 10.1038/nature04632 http://dx.doi.org/10.1038/nature04632 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AK131327 http://www.ebi.ac.uk/ena/data/view/AK131327 EMBL AP003068 http://www.ebi.ac.uk/ena/data/view/AP003068 EMBL BC146850 http://www.ebi.ac.uk/ena/data/view/BC146850 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0005452 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005452 GO_function GO:0015347 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015347 GO_process GO:0043252 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043252 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GeneCards SLC22A20 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC22A20 GeneID 440044 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=440044 HGNC HGNC:29867 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:29867 HOGENOM HOG000234569 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000234569&db=HOGENOM6 HOVERGEN HBG108433 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG108433&db=HOVERGEN InParanoid A6NK97 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=A6NK97 IntAct A6NK97 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=A6NK97* InterPro IPR005828 http://www.ebi.ac.uk/interpro/entry/IPR005828 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 440044 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=440044 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:440044 http://www.genome.jp/dbget-bin/www_bget?hsa:440044 KEGG_Orthology KO:K08216 http://www.genome.jp/dbget-bin/www_bget?KO:K08216 MIM 611696 http://www.ncbi.nlm.nih.gov/omim/611696 PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PSORT swissprot:S22AK_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S22AK_HUMAN PSORT-B swissprot:S22AK_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S22AK_HUMAN PSORT2 swissprot:S22AK_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S22AK_HUMAN Pfam PF00083 http://pfam.xfam.org/family/PF00083 PharmGKB PA162403493 http://www.pharmgkb.org/do/serve?objId=PA162403493&objCls=Gene Phobius swissprot:S22AK_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S22AK_HUMAN PhylomeDB A6NK97 http://phylomedb.org/?seqid=A6NK97 ProteinModelPortal A6NK97 http://www.proteinmodelportal.org/query/uniprot/A6NK97 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16554811 http://www.ncbi.nlm.nih.gov/pubmed/16554811 RefSeq NP_001004326 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001004326 SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.1.19.35 http://www.tcdb.org/search/result.php?tc=2.A.1.19.35 UniGene Hs.532372 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.532372 UniProtKB S22AK_HUMAN http://www.uniprot.org/uniprot/S22AK_HUMAN UniProtKB-AC A6NK97 http://www.uniprot.org/uniprot/A6NK97 charge swissprot:S22AK_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S22AK_HUMAN epestfind swissprot:S22AK_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S22AK_HUMAN garnier swissprot:S22AK_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S22AK_HUMAN helixturnhelix swissprot:S22AK_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S22AK_HUMAN hmoment swissprot:S22AK_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S22AK_HUMAN iep swissprot:S22AK_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S22AK_HUMAN inforesidue swissprot:S22AK_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S22AK_HUMAN neXtProt NX_A6NK97 http://www.nextprot.org/db/entry/NX_A6NK97 octanol swissprot:S22AK_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S22AK_HUMAN pepcoil swissprot:S22AK_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S22AK_HUMAN pepdigest swissprot:S22AK_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S22AK_HUMAN pepinfo swissprot:S22AK_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S22AK_HUMAN pepnet swissprot:S22AK_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S22AK_HUMAN pepstats swissprot:S22AK_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S22AK_HUMAN pepwheel swissprot:S22AK_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S22AK_HUMAN pepwindow swissprot:S22AK_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S22AK_HUMAN sigcleave swissprot:S22AK_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S22AK_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS KCNK7_HUMAN Event=Alternative splicing; Named isoforms=3; Name=A; IsoId=Q9Y2U2-1; Sequence=Displayed; Name=B; IsoId=Q9Y2U2-2; Sequence=VSP_006693, VSP_006694; Name=C; IsoId=Q9Y2U2-3; Sequence=VSP_006695, VSP_006696; # CCDS CCDS31608 -. [Q9Y2U2-1] # CCDS CCDS41673 -. [Q9Y2U2-3] # CCDS CCDS8106 -. [Q9Y2U2-2] # Ensembl ENST00000340313 ENSP00000344820; ENSG00000173338. [Q9Y2U2-1] # Ensembl ENST00000342202 ENSP00000343923; ENSG00000173338. [Q9Y2U2-2] # Ensembl ENST00000394216 ENSP00000377764; ENSG00000173338. [Q9Y2U2-3] # Ensembl ENST00000394217 ENSP00000377765; ENSG00000173338. [Q9Y2U2-2] # ExpressionAtlas Q9Y2U2 baseline and differential # FUNCTION KCNK7_HUMAN Probable potassium channel subunit. No channel activity observed in vitro as protein remains in the endoplasmic reticulum. May need to associate with an as yet unknown partner in order to reach the plasma membrane. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_function GO:0005244 voltage-gated ion channel activity; IEA:UniProtKB-KW. # GO_function GO:0005267 potassium channel activity; TAS:Reactome. # GO_function GO:0022841 potassium ion leak channel activity; IBA:GO_Central. # GO_process GO:0006813 potassium ion transport; TAS:ProtInc. # GO_process GO:0030322 stabilization of membrane potential; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # Genevisible Q9Y2U2 HS # HGNC HGNC:6282 KCNK7 # InterPro IPR003092 2pore_dom_K_chnl_TASK # InterPro IPR003280 2pore_dom_K_chnl # InterPro IPR005408 2pore_dom_K_chnl_TWIK # InterPro IPR013099 K_chnl_dom # KEGG_Brite ko04040 Ion channels # MIM 603940 gene # Organism KCNK7_HUMAN Homo sapiens (Human) # PIRSF PIRSF038061 K_channel_subfamily_K_type # PRINTS PR01333 2POREKCHANEL # PRINTS PR01586 TWIKCHANNEL # Pfam PF07885 Ion_trans_2; 2 # Proteomes UP000005640 Chromosome 11 # Reactome R-HSA-1299308 Tandem of pore domain in a weak inwardly rectifying K+ channels (TWIK) # Reactome R-HSA-5576886 Phase 4 - resting membrane potential # RecName KCNK7_HUMAN Potassium channel subfamily K member 7 # RefSeq NP_005705 NM_005714.1. [Q9Y2U2-3] # RefSeq NP_203133 NM_033347.1. [Q9Y2U2-1] # RefSeq NP_203134 NM_033348.1. [Q9Y2U2-2] # RefSeq NP_258416 NM_033455.1. [Q9Y2U2-2] # SIMILARITY Belongs to the two pore domain potassium channel (TC 1.A.1.8) family. {ECO 0000305}. # SUBCELLULAR LOCATION KCNK7_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # SUBUNIT Homodimer. {ECO 0000305}. # UCSC uc001oeq human. [Q9Y2U2-1] # eggNOG COG1226 LUCA # eggNOG KOG1418 Eukaryota BLAST swissprot:KCNK7_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCNK7_HUMAN BioCyc ZFISH:ENSG00000173338-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000173338-MONOMER COXPRESdb 10089 http://coxpresdb.jp/data/gene/10089.shtml CleanEx HS_KCNK7 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNK7 DOI 10.1074/jbc.274.17.11751 http://dx.doi.org/10.1074/jbc.274.17.11751 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AF110522 http://www.ebi.ac.uk/ena/data/view/AF110522 EMBL AF110523 http://www.ebi.ac.uk/ena/data/view/AF110523 EMBL AF110524 http://www.ebi.ac.uk/ena/data/view/AF110524 EMBL BC103809 http://www.ebi.ac.uk/ena/data/view/BC103809 EMBL CH471076 http://www.ebi.ac.uk/ena/data/view/CH471076 Ensembl ENST00000340313 http://www.ensembl.org/id/ENST00000340313 Ensembl ENST00000342202 http://www.ensembl.org/id/ENST00000342202 Ensembl ENST00000394216 http://www.ensembl.org/id/ENST00000394216 Ensembl ENST00000394217 http://www.ensembl.org/id/ENST00000394217 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0005244 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005244 GO_function GO:0005267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005267 GO_function GO:0022841 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022841 GO_process GO:0006813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006813 GO_process GO:0030322 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030322 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GeneCards KCNK7 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNK7 GeneID 10089 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=10089 GeneTree ENSGT00760000118858 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118858 HGNC HGNC:6282 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6282 HOGENOM HOG000286014 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000286014&db=HOGENOM6 HOVERGEN HBG052237 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052237&db=HOVERGEN InParanoid Q9Y2U2 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9Y2U2 InterPro IPR003092 http://www.ebi.ac.uk/interpro/entry/IPR003092 InterPro IPR003280 http://www.ebi.ac.uk/interpro/entry/IPR003280 InterPro IPR005408 http://www.ebi.ac.uk/interpro/entry/IPR005408 InterPro IPR013099 http://www.ebi.ac.uk/interpro/entry/IPR013099 Jabion 10089 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=10089 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:10089 http://www.genome.jp/dbget-bin/www_bget?hsa:10089 KEGG_Orthology KO:K04918 http://www.genome.jp/dbget-bin/www_bget?KO:K04918 MIM 603940 http://www.ncbi.nlm.nih.gov/omim/603940 OMA AWVAVHW http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=AWVAVHW OrthoDB EOG091G0DIX http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0DIX PRINTS PR01333 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01333 PRINTS PR01586 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01586 PSORT swissprot:KCNK7_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCNK7_HUMAN PSORT-B swissprot:KCNK7_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCNK7_HUMAN PSORT2 swissprot:KCNK7_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCNK7_HUMAN Pfam PF07885 http://pfam.xfam.org/family/PF07885 PharmGKB PA30064 http://www.pharmgkb.org/do/serve?objId=PA30064&objCls=Gene Phobius swissprot:KCNK7_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCNK7_HUMAN PhylomeDB Q9Y2U2 http://phylomedb.org/?seqid=Q9Y2U2 ProteinModelPortal Q9Y2U2 http://www.proteinmodelportal.org/query/uniprot/Q9Y2U2 PubMed 10206991 http://www.ncbi.nlm.nih.gov/pubmed/10206991 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 Reactome R-HSA-1299308 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1299308 Reactome R-HSA-5576886 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576886 RefSeq NP_005705 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_005705 RefSeq NP_203133 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_203133 RefSeq NP_203134 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_203134 RefSeq NP_258416 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_258416 SMR Q9Y2U2 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9Y2U2 STRING 9606.ENSP00000344820 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000344820&targetmode=cogs UCSC uc001oeq http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001oeq&org=rat UniGene Hs.175218 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.175218 UniProtKB KCNK7_HUMAN http://www.uniprot.org/uniprot/KCNK7_HUMAN UniProtKB-AC Q9Y2U2 http://www.uniprot.org/uniprot/Q9Y2U2 charge swissprot:KCNK7_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCNK7_HUMAN eggNOG COG1226 http://eggnogapi.embl.de/nog_data/html/tree/COG1226 eggNOG KOG1418 http://eggnogapi.embl.de/nog_data/html/tree/KOG1418 epestfind swissprot:KCNK7_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCNK7_HUMAN garnier swissprot:KCNK7_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCNK7_HUMAN helixturnhelix swissprot:KCNK7_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCNK7_HUMAN hmoment swissprot:KCNK7_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCNK7_HUMAN iep swissprot:KCNK7_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCNK7_HUMAN inforesidue swissprot:KCNK7_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCNK7_HUMAN neXtProt NX_Q9Y2U2 http://www.nextprot.org/db/entry/NX_Q9Y2U2 octanol swissprot:KCNK7_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCNK7_HUMAN pepcoil swissprot:KCNK7_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCNK7_HUMAN pepdigest swissprot:KCNK7_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCNK7_HUMAN pepinfo swissprot:KCNK7_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCNK7_HUMAN pepnet swissprot:KCNK7_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCNK7_HUMAN pepstats swissprot:KCNK7_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCNK7_HUMAN pepwheel swissprot:KCNK7_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCNK7_HUMAN pepwindow swissprot:KCNK7_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCNK7_HUMAN sigcleave swissprot:KCNK7_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCNK7_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS DIC_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9UBX3-1; Sequence=Displayed; Name=2; IsoId=Q9UBX3-2; Sequence=VSP_003267; Note=No experimental confirmation available.; # AltName DIC_HUMAN Solute carrier family 25 member 10 # BioGrid 107850 50 # CCDS CCDS11786 -. [Q9UBX3-1] # CCDS CCDS59301 -. [Q9UBX3-2] # ChiTaRS SLC25A10 human # DrugBank DB00139 Succinic acid # Ensembl ENST00000331531 ENSP00000328403; ENSG00000183048. [Q9UBX3-2] # Ensembl ENST00000350690 ENSP00000345580; ENSG00000183048. [Q9UBX3-1] # ExpressionAtlas Q9UBX3 baseline and differential # FUNCTION DIC_HUMAN Involved in translocation of malonate, malate and succinate in exchange for phosphate, sulfate, sulfite or thiosulfate across mitochondrial inner membrane. # GO_component GO:0005634 nucleus; IDA:UniProtKB. # GO_component GO:0005743 mitochondrial inner membrane; TAS:Reactome. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0005310 dicarboxylic acid transmembrane transporter activity; TAS:Reactome. # GO_process DIC_HUMAN GO 0070221 sulfide oxidation, using sulfide quinone oxidoreductase; TAS Reactome. # GO_process GO:0006094 gluconeogenesis; TAS:Reactome. # GO_process GO:0006811 ion transport; TAS:Reactome. # GO_process GO:0006835 dicarboxylic acid transport; TAS:ProtInc. # GO_process GO:0006839 mitochondrial transport; IEA:InterPro. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005634 nucleus # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0005975 carbohydrate metabolic process # GOslim_process GO:0006790 sulfur compound metabolic process # GOslim_process GO:0006810 transport # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0044281 small molecule metabolic process # Gene3D 1.50.40.10 -; 1. # Genevisible Q9UBX3 HS # HGNC HGNC:10980 SLC25A10 # INTERACTION DIC_HUMAN Q6A162 KRT40; NbExp=3; IntAct=EBI-750394, EBI-10171697; P60410 KRTAP10-8; NbExp=3; IntAct=EBI-750394, EBI-10171774; Q9BYR5 KRTAP4-2; NbExp=3; IntAct=EBI-750394, EBI-10172511; P26371 KRTAP5-9; NbExp=3; IntAct=EBI-750394, EBI-3958099; Q99750 MDFI; NbExp=7; IntAct=EBI-750394, EBI-724076; Q7Z3S9 NOTCH2NL; NbExp=3; IntAct=EBI-750394, EBI-945833; # IntAct Q9UBX3 19 # InterPro IPR002030 Mit_uncoupling # InterPro IPR018108 Mitochondrial_sb/sol_carrier # InterPro IPR023395 Mt_carrier_dom # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02001 Solute carrier family # KEGG_Pathway ko04964 Proximal tubule bicarbonate reclamation # MIM 606794 gene # Organism DIC_HUMAN Homo sapiens (Human) # PRINTS PR00784 MTUNCOUPLING # PROSITE PS50920 SOLCAR; 3 # Pfam PF00153 Mito_carr; 3 # Proteomes UP000005640 Chromosome 17 # Reactome R-HSA-1614517 Sulfide oxidation to sulfate # Reactome R-HSA-428643 Organic anion transporters # Reactome R-HSA-70263 Gluconeogenesis # RecName DIC_HUMAN Mitochondrial dicarboxylate carrier # RefSeq NP_001257817 NM_001270888.1. [Q9UBX3-2] # RefSeq NP_001257882 NM_001270953.1 # RefSeq NP_036272 NM_012140.4. [Q9UBX3-1] # SIMILARITY Belongs to the mitochondrial carrier (TC 2.A.29) family. {ECO 0000305}. # SIMILARITY Contains 3 Solcar repeats. {ECO:0000255|PROSITE- ProRule PRU00282}. # SUBCELLULAR LOCATION DIC_HUMAN Mitochondrion inner membrane; Multi-pass membrane protein. # SUPFAM SSF103506 SSF103506 # TCDB 2.A.29.2 the mitochondrial carrier (mc) family # TISSUE SPECIFICITY Present in high amounts in liver and kidney, and at lower levels in all the other tissues analyzed. {ECO:0000269|PubMed 10585886}. # UCSC uc002kbi human. [Q9UBX3-1] # eggNOG ENOG410XQHU LUCA # eggNOG KOG0759 Eukaryota BLAST swissprot:DIC_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:DIC_HUMAN BioCyc ZFISH:G66-31659-MONOMER http://biocyc.org/getid?id=ZFISH:G66-31659-MONOMER COXPRESdb 1468 http://coxpresdb.jp/data/gene/1468.shtml CleanEx HS_SLC25A10 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC25A10 DOI 10.1042/bj3440953 http://dx.doi.org/10.1042/bj3440953 DOI 10.1093/dnares/12.2.117 http://dx.doi.org/10.1093/dnares/12.2.117 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DrugBank DB00139 http://www.drugbank.ca/drugs/DB00139 EMBL AJ131612 http://www.ebi.ac.uk/ena/data/view/AJ131612 EMBL AJ131613 http://www.ebi.ac.uk/ena/data/view/AJ131613 EMBL AK075249 http://www.ebi.ac.uk/ena/data/view/AK075249 EMBL BC007355 http://www.ebi.ac.uk/ena/data/view/BC007355 EMBL BC015797 http://www.ebi.ac.uk/ena/data/view/BC015797 EMBL CH471099 http://www.ebi.ac.uk/ena/data/view/CH471099 Ensembl ENST00000331531 http://www.ensembl.org/id/ENST00000331531 Ensembl ENST00000350690 http://www.ensembl.org/id/ENST00000350690 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005310 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005310 GO_process GO:0006094 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006094 GO_process GO:0006811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006811 GO_process GO:0006835 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006835 GO_process GO:0006839 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006839 GO_process GO:0070221 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070221 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0005975 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005975 GOslim_process GO:0006790 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006790 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 Gene3D 1.50.40.10 http://www.cathdb.info/version/latest/superfamily/1.50.40.10 GeneCards SLC25A10 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC25A10 GeneID 1468 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=1468 GeneTree ENSGT00760000119170 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119170 HGNC HGNC:10980 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10980 HOGENOM HOG000165139 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000165139&db=HOGENOM6 HOVERGEN HBG009528 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG009528&db=HOVERGEN HPA HPA023048 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA023048 InParanoid Q9UBX3 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9UBX3 IntAct Q9UBX3 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9UBX3* InterPro IPR002030 http://www.ebi.ac.uk/interpro/entry/IPR002030 InterPro IPR018108 http://www.ebi.ac.uk/interpro/entry/IPR018108 InterPro IPR023395 http://www.ebi.ac.uk/interpro/entry/IPR023395 Jabion 1468 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=1468 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:1468 http://www.genome.jp/dbget-bin/www_bget?hsa:1468 KEGG_Orthology KO:K13577 http://www.genome.jp/dbget-bin/www_bget?KO:K13577 KEGG_Pathway ko04964 http://www.genome.jp/kegg-bin/show_pathway?ko04964 MIM 606794 http://www.ncbi.nlm.nih.gov/omim/606794 MINT MINT-1477100 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1477100 OMA MAVHVVK http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=MAVHVVK PRINTS PR00784 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00784 PROSITE PS50920 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50920 PSORT swissprot:DIC_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:DIC_HUMAN PSORT-B swissprot:DIC_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:DIC_HUMAN PSORT2 swissprot:DIC_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:DIC_HUMAN Pfam PF00153 http://pfam.xfam.org/family/PF00153 PharmGKB PA35856 http://www.pharmgkb.org/do/serve?objId=PA35856&objCls=Gene Phobius swissprot:DIC_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:DIC_HUMAN PhylomeDB Q9UBX3 http://phylomedb.org/?seqid=Q9UBX3 ProteinModelPortal Q9UBX3 http://www.proteinmodelportal.org/query/uniprot/Q9UBX3 PubMed 10585886 http://www.ncbi.nlm.nih.gov/pubmed/10585886 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16303743 http://www.ncbi.nlm.nih.gov/pubmed/16303743 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 Reactome R-HSA-1614517 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1614517 Reactome R-HSA-428643 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-428643 Reactome R-HSA-70263 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-70263 RefSeq NP_001257817 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001257817 RefSeq NP_001257882 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001257882 RefSeq NP_036272 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_036272 STRING 9606.ENSP00000345580 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000345580&targetmode=cogs SUPFAM SSF103506 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103506 TCDB 2.A.29.2 http://www.tcdb.org/search/result.php?tc=2.A.29.2 UCSC uc002kbi http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002kbi&org=rat UniGene Hs.548187 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.548187 UniProtKB DIC_HUMAN http://www.uniprot.org/uniprot/DIC_HUMAN UniProtKB-AC Q9UBX3 http://www.uniprot.org/uniprot/Q9UBX3 charge swissprot:DIC_HUMAN http://rest.g-language.org/emboss/charge/swissprot:DIC_HUMAN eggNOG ENOG410XQHU http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XQHU eggNOG KOG0759 http://eggnogapi.embl.de/nog_data/html/tree/KOG0759 epestfind swissprot:DIC_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:DIC_HUMAN garnier swissprot:DIC_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:DIC_HUMAN helixturnhelix swissprot:DIC_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:DIC_HUMAN hmoment swissprot:DIC_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:DIC_HUMAN iep swissprot:DIC_HUMAN http://rest.g-language.org/emboss/iep/swissprot:DIC_HUMAN inforesidue swissprot:DIC_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:DIC_HUMAN neXtProt NX_Q9UBX3 http://www.nextprot.org/db/entry/NX_Q9UBX3 octanol swissprot:DIC_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:DIC_HUMAN pepcoil swissprot:DIC_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:DIC_HUMAN pepdigest swissprot:DIC_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:DIC_HUMAN pepinfo swissprot:DIC_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:DIC_HUMAN pepnet swissprot:DIC_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:DIC_HUMAN pepstats swissprot:DIC_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:DIC_HUMAN pepwheel swissprot:DIC_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:DIC_HUMAN pepwindow swissprot:DIC_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:DIC_HUMAN sigcleave swissprot:DIC_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:DIC_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S35A2_HUMAN Event=Alternative splicing; Named isoforms=5; Name=1; Synonyms=UGT2; IsoId=P78381-1; Sequence=Displayed; Name=2; Synonyms=UGT1; IsoId=P78381-2; Sequence=VSP_003728; Name=3; IsoId=P78381-3; Sequence=VSP_042029; Name=4; IsoId=P78381-4; Sequence=VSP_054335, VSP_003728; Note=No experimental confirmation available.; Name=5; IsoId=P78381-5; Sequence=VSP_055197, VSP_003728; Note=No experimental confirmation available.; # AltName S35A2_HUMAN Solute carrier family 35 member A2 # AltName S35A2_HUMAN UDP-galactose transporter # BioGrid 113202 5 # CCDS CCDS14311 -. [P78381-1] # CCDS CCDS35247 -. [P78381-3] # CCDS CCDS43937 -. [P78381-2] # CCDS CCDS65253 -. [P78381-5] # CCDS CCDS65254 -. [P78381-4] # ChiTaRS SLC35A2 human # DISEASE S35A2_HUMAN Congenital disorder of glycosylation 2M (CDG2M) [MIM 300896] A disorder characterized by developmental delay, hypotonia, ocular anomalies, and brain malformations. Othere more variable clinical features included seizures, hypsarrhythmia, poor feeding, microcephaly, recurrent infections, dysmorphic features, shortened limbs, and coagulation defects. Congenital disorders of glycosylation are caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins and a wide variety of clinical features. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. {ECO 0000269|PubMed 23561849, ECO 0000269|PubMed 24115232}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000247138 ENSP00000247138; ENSG00000102100. [P78381-1] # Ensembl ENST00000376521 ENSP00000365704; ENSG00000102100. [P78381-2] # Ensembl ENST00000445167 ENSP00000402726; ENSG00000102100. [P78381-3] # Ensembl ENST00000452555 ENSP00000416002; ENSG00000102100. [P78381-4] # Ensembl ENST00000635285 ENSP00000489484; ENSG00000102100. [P78381-2] # Ensembl ENST00000635589 ENSP00000489197; ENSG00000102100. [P78381-5] # ExpressionAtlas P78381 baseline and differential # FUNCTION S35A2_HUMAN Transports nucleotide sugars from the cytosol into Golgi vesicles where glycosyltransferases function. # GO_component GO:0000139 Golgi membrane; TAS:Reactome. # GO_component GO:0005634 nucleus; IDA:HPA. # GO_component GO:0005783 endoplasmic reticulum; IDA:CACAO. # GO_component GO:0005794 Golgi apparatus; IDA:CACAO. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0005459 UDP-galactose transmembrane transporter activity; TAS:Reactome. # GO_function S35A2_HUMAN GO 0005351 sugar proton symporter activity; IEA InterPro. # GO_process GO:0006012 galactose metabolic process; TAS:ProtInc. # GO_process GO:0015785 UDP-galactose transport; TAS:ProtInc. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_component GO:0005794 Golgi apparatus # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0005975 carbohydrate metabolic process # GOslim_process GO:0006810 transport # GOslim_process GO:0044281 small molecule metabolic process # Genevisible P78381 HS # HGNC HGNC:11022 SLC35A2 # INTERACTION S35A2_HUMAN Q9Y2D2 SLC35A3; NbExp=3; IntAct=EBI-8101118, EBI-3917581; # IntAct P78381 5 # InterPro IPR007271 Nuc_sug_transpt # KEGG_Brite ko02001 Solute carrier family # KEGG_Disease H00119 [Inherited metabolic disease] Congenital disorders of glycosylation (CDG) type II # KEGG_Disease H00606 [Congenital disorder; Epilepsy] Ohtahara syndrome # MIM 300896 phenotype # MIM 314375 gene # Organism S35A2_HUMAN Homo sapiens (Human) # Orphanet 356961 SLC35A2-CDG # PANTHER PTHR10231 PTHR10231 # PIR JC5022 JC5022 # PIRSF PIRSF005799 UDP-gal_transpt # Pfam PF04142 Nuc_sug_transp # Proteomes UP000005640 Chromosome X # Reactome R-HSA-727802 Transport of nucleotide sugars # RecName S35A2_HUMAN UDP-galactose translocator # RefSeq NP_001027460 NM_001032289.2. [P78381-3] # RefSeq NP_001035963 NM_001042498.2. [P78381-2] # RefSeq NP_001269576 NM_001282647.1 # RefSeq NP_001269577 NM_001282648.1 # RefSeq NP_001269578 NM_001282649.1. [P78381-5] # RefSeq NP_001269579 NM_001282650.1 # RefSeq NP_001269580 NM_001282651.1. [P78381-4] # RefSeq NP_005651 NM_005660.2. [P78381-1] # SIMILARITY Belongs to the nucleotide-sugar transporter family. SLC35A subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION S35A2_HUMAN Golgi apparatus membrane; Multi-pass membrane protein. # SUBUNIT Interacts with SLC35A3. {ECO:0000269|PubMed 23089177}. # TCDB 2.A.7.12 the drug/metabolite transporter (dmt) superfamily # UCSC uc004dlo human. [P78381-1] # eggNOG COG0697 LUCA # eggNOG KOG2234 Eukaryota BLAST swissprot:S35A2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S35A2_HUMAN BioCyc ZFISH:ENSG00000102100-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000102100-MONOMER COXPRESdb 7355 http://coxpresdb.jp/data/gene/7355.shtml CleanEx HS_SLC35A2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC35A2 DOI 10.1002/humu.22446 http://dx.doi.org/10.1002/humu.22446 DOI 10.1007/BF01233383 http://dx.doi.org/10.1007/BF01233383 DOI 10.1016/j.ajhg.2013.03.012 http://dx.doi.org/10.1016/j.ajhg.2013.03.012 DOI 10.1016/j.febslet.2012.10.016 http://dx.doi.org/10.1016/j.febslet.2012.10.016 DOI 10.1038/nature03440 http://dx.doi.org/10.1038/nature03440 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1093/oxfordjournals.jbchem.a021404 http://dx.doi.org/10.1093/oxfordjournals.jbchem.a021404 DOI 10.1093/oxfordjournals.jbchem.a021523 http://dx.doi.org/10.1093/oxfordjournals.jbchem.a021523 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1133427 http://dx.doi.org/10.1126/science.1133427 EMBL AB042425 http://www.ebi.ac.uk/ena/data/view/AB042425 EMBL AB042425 http://www.ebi.ac.uk/ena/data/view/AB042425 EMBL AF207550 http://www.ebi.ac.uk/ena/data/view/AF207550 EMBL AK290284 http://www.ebi.ac.uk/ena/data/view/AK290284 EMBL AK292816 http://www.ebi.ac.uk/ena/data/view/AK292816 EMBL AK293415 http://www.ebi.ac.uk/ena/data/view/AK293415 EMBL AK298484 http://www.ebi.ac.uk/ena/data/view/AK298484 EMBL BC035747 http://www.ebi.ac.uk/ena/data/view/BC035747 EMBL CH471224 http://www.ebi.ac.uk/ena/data/view/CH471224 EMBL CH471224 http://www.ebi.ac.uk/ena/data/view/CH471224 EMBL D84454 http://www.ebi.ac.uk/ena/data/view/D84454 EMBL D88146 http://www.ebi.ac.uk/ena/data/view/D88146 Ensembl ENST00000247138 http://www.ensembl.org/id/ENST00000247138 Ensembl ENST00000376521 http://www.ensembl.org/id/ENST00000376521 Ensembl ENST00000445167 http://www.ensembl.org/id/ENST00000445167 Ensembl ENST00000452555 http://www.ensembl.org/id/ENST00000452555 Ensembl ENST00000635285 http://www.ensembl.org/id/ENST00000635285 Ensembl ENST00000635589 http://www.ensembl.org/id/ENST00000635589 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000139 GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GO_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005351 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005351 GO_function GO:0005459 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005459 GO_process GO:0006012 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006012 GO_process GO:0015785 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015785 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0005975 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005975 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GeneCards SLC35A2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC35A2 GeneID 7355 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=7355 GeneTree ENSGT00550000074563 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074563 HGNC HGNC:11022 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11022 HOGENOM HOG000231358 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231358&db=HOGENOM6 HOVERGEN HBG071267 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG071267&db=HOVERGEN HPA HPA036087 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA036087 InParanoid P78381 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P78381 IntAct P78381 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P78381* InterPro IPR007271 http://www.ebi.ac.uk/interpro/entry/IPR007271 Jabion 7355 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=7355 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Disease H00119 http://www.genome.jp/dbget-bin/www_bget?H00119 KEGG_Disease H00606 http://www.genome.jp/dbget-bin/www_bget?H00606 KEGG_Gene hsa:7355 http://www.genome.jp/dbget-bin/www_bget?hsa:7355 KEGG_Orthology KO:K15272 http://www.genome.jp/dbget-bin/www_bget?KO:K15272 MIM 300896 http://www.ncbi.nlm.nih.gov/omim/300896 MIM 314375 http://www.ncbi.nlm.nih.gov/omim/314375 OMA FAKLITC http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=FAKLITC Orphanet 356961 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=356961 OrthoDB EOG091G0CHS http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0CHS PANTHER PTHR10231 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10231 PSORT swissprot:S35A2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S35A2_HUMAN PSORT-B swissprot:S35A2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S35A2_HUMAN PSORT2 swissprot:S35A2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S35A2_HUMAN Pfam PF04142 http://pfam.xfam.org/family/PF04142 PharmGKB PA35890 http://www.pharmgkb.org/do/serve?objId=PA35890&objCls=Gene Phobius swissprot:S35A2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S35A2_HUMAN PhylomeDB P78381 http://phylomedb.org/?seqid=P78381 ProteinModelPortal P78381 http://www.proteinmodelportal.org/query/uniprot/P78381 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15772651 http://www.ncbi.nlm.nih.gov/pubmed/15772651 PubMed 16959974 http://www.ncbi.nlm.nih.gov/pubmed/16959974 PubMed 23089177 http://www.ncbi.nlm.nih.gov/pubmed/23089177 PubMed 23561849 http://www.ncbi.nlm.nih.gov/pubmed/23561849 PubMed 24115232 http://www.ncbi.nlm.nih.gov/pubmed/24115232 PubMed 8128316 http://www.ncbi.nlm.nih.gov/pubmed/8128316 PubMed 8889805 http://www.ncbi.nlm.nih.gov/pubmed/8889805 PubMed 9010752 http://www.ncbi.nlm.nih.gov/pubmed/9010752 Reactome R-HSA-727802 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-727802 RefSeq NP_001027460 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001027460 RefSeq NP_001035963 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001035963 RefSeq NP_001269576 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001269576 RefSeq NP_001269577 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001269577 RefSeq NP_001269578 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001269578 RefSeq NP_001269579 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001269579 RefSeq NP_001269580 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001269580 RefSeq NP_005651 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_005651 STRING 9606.ENSP00000247138 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000247138&targetmode=cogs TCDB 2.A.7.12 http://www.tcdb.org/search/result.php?tc=2.A.7.12 UCSC uc004dlo http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc004dlo&org=rat UniGene Hs.21899 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.21899 UniProtKB S35A2_HUMAN http://www.uniprot.org/uniprot/S35A2_HUMAN UniProtKB-AC P78381 http://www.uniprot.org/uniprot/P78381 charge swissprot:S35A2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S35A2_HUMAN eggNOG COG0697 http://eggnogapi.embl.de/nog_data/html/tree/COG0697 eggNOG KOG2234 http://eggnogapi.embl.de/nog_data/html/tree/KOG2234 epestfind swissprot:S35A2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S35A2_HUMAN garnier swissprot:S35A2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S35A2_HUMAN helixturnhelix swissprot:S35A2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S35A2_HUMAN hmoment swissprot:S35A2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S35A2_HUMAN iep swissprot:S35A2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S35A2_HUMAN inforesidue swissprot:S35A2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S35A2_HUMAN neXtProt NX_P78381 http://www.nextprot.org/db/entry/NX_P78381 octanol swissprot:S35A2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S35A2_HUMAN pepcoil swissprot:S35A2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S35A2_HUMAN pepdigest swissprot:S35A2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S35A2_HUMAN pepinfo swissprot:S35A2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S35A2_HUMAN pepnet swissprot:S35A2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S35A2_HUMAN pepstats swissprot:S35A2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S35A2_HUMAN pepwheel swissprot:S35A2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S35A2_HUMAN pepwindow swissprot:S35A2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S35A2_HUMAN sigcleave swissprot:S35A2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S35A2_HUMAN ## Database ID URL or Descriptions # AltName TSNAX_HUMAN Translin-associated factor X # BioGrid 113108 99 # ChiTaRS TSNAX human # Ensembl ENST00000366639 ENSP00000355599; ENSG00000116918 # ExpressionAtlas Q99598 baseline and differential # FUNCTION TSNAX_HUMAN Acts in combination with TSN as an endonuclease involved in the activation of the RNA-induced silencing complex (RISC). Possible role in spermatogenesis. {ECO 0000269|PubMed 12036294, ECO 0000269|PubMed 21552258}. # GO_component GO:0005634 nucleus; IBA:GO_Central. # GO_component GO:0005794 Golgi apparatus; IEA:UniProtKB-SubCell. # GO_component GO:0005829 cytosol; TAS:Reactome. # GO_component GO:0048471 perinuclear region of cytoplasm; IEA:UniProtKB-SubCell. # GO_function GO:0003677 DNA binding; TAS:ProtInc. # GO_function GO:0008565 protein transporter activity; TAS:ProtInc. # GO_function GO:0043565 sequence-specific DNA binding; IEA:InterPro. # GO_function GO:0044822 poly(A) RNA binding; IDA:UniProtKB. # GO_function GO:0046872 metal ion binding; IEA:UniProtKB-KW. # GO_process GO:0007275 multicellular organism development; IEA:UniProtKB-KW. # GO_process GO:0007283 spermatogenesis; IEA:UniProtKB-KW. # GO_process GO:0030154 cell differentiation; IEA:UniProtKB-KW. # GO_process GO:0031047 gene silencing by RNA; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005794 Golgi apparatus # GOslim_component GO:0005829 cytosol # GOslim_function GO:0003677 DNA binding # GOslim_function GO:0003723 RNA binding # GOslim_function GO:0008565 protein transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0008150 biological_process # GOslim_process GO:0030154 cell differentiation # GOslim_process GO:0048856 anatomical structure development # Gene3D 1.20.58.190 -; 1. # Gene3D 1.20.58.200 -; 1. # Genevisible Q99598 HS # HGNC HGNC:12380 TSNAX # INTERACTION TSNAX_HUMAN Q12904 AIMP1; NbExp=3; IntAct=EBI-742638, EBI-1045802; Q8TDH9 BLOC1S5; NbExp=3; IntAct=EBI-742638, EBI-465861; Q9H257 CARD9; NbExp=5; IntAct=EBI-742638, EBI-751319; O95257 GADD45G; NbExp=3; IntAct=EBI-742638, EBI-448202; Q6P597 KLC3; NbExp=5; IntAct=EBI-742638, EBI-1643885; Q9BRK4 LZTS2; NbExp=5; IntAct=EBI-742638, EBI-741037; Q99081 TCF12; NbExp=3; IntAct=EBI-742638, EBI-722877; Q15631 TSN; NbExp=5; IntAct=EBI-742638, EBI-1044160; # IntAct Q99598 98 # InterPro IPR002848 Translin_fam # InterPro IPR016068 Translin_N # InterPro IPR016069 Translin_C # MIM 602964 gene # Organism TSNAX_HUMAN Homo sapiens (Human) # PANTHER PTHR10741 PTHR10741 # PDB 3PJA X-ray; 3.00 A; J/K/L=1-290 # PDB 3QB5 X-ray; 2.95 A; K=1-290 # PTM TSNAX_HUMAN Sumoylated with SUMO1. {ECO 0000269|PubMed 15561718}. # Pfam PF01997 Translin # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-426486 Small interfering RNA (siRNA) biogenesis # RecName TSNAX_HUMAN Translin-associated protein X # RefSeq NP_005990 NM_005999.2 # SIMILARITY Belongs to the translin family. {ECO 0000305}. # SUBCELLULAR LOCATION TSNAX_HUMAN Cytoplasm, perinuclear region. Golgi apparatus {ECO 0000250}. Nucleus. Note=Accumulate in the Golgi complex of mid-late pachytene spermatocytes (By similarity). Expressed in the cytoplasm in the presence of TSN. {ECO 0000250}. # SUBUNIT TSNAX_HUMAN Ring-shaped heterooctamer of six TSN and two TSNAX subunits. Interacts with GOLGA3, TSNAXIP1, SUN1 and AKAP9. Interacts with the homodimeric form of C1D following gamma- radiation. Interacts with TSN and C1D in a mutually exclusive manner. {ECO 0000269|PubMed 11801738, ECO 0000269|PubMed 12036294, ECO 0000269|PubMed 15919079, ECO 0000269|PubMed 21552258, ECO 0000269|PubMed 9013868}. # SUPFAM SSF74784 SSF74784 # UCSC uc001huw human # eggNOG COG2178 LUCA # eggNOG KOG3066 Eukaryota BLAST swissprot:TSNAX_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:TSNAX_HUMAN BioCyc ZFISH:ENSG00000116918-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000116918-MONOMER COXPRESdb 7257 http://coxpresdb.jp/data/gene/7257.shtml CleanEx HS_TSNAX http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_TSNAX DIP DIP-29463N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-29463N DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1006/geno.2002.6779 http://dx.doi.org/10.1006/geno.2002.6779 DOI 10.1016/S0014-5793(96)01444-5 http://dx.doi.org/10.1016/S0014-5793(96)01444-5 DOI 10.1016/j.febslet.2005.05.007 http://dx.doi.org/10.1016/j.febslet.2005.05.007 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1038/nsmb.2032 http://dx.doi.org/10.1038/nsmb.2032 DOI 10.1074/jbc.M411718200 http://dx.doi.org/10.1074/jbc.M411718200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1175371 http://dx.doi.org/10.1126/science.1175371 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AF271267 http://www.ebi.ac.uk/ena/data/view/AF271267 EMBL AF271268 http://www.ebi.ac.uk/ena/data/view/AF271268 EMBL AF271269 http://www.ebi.ac.uk/ena/data/view/AF271269 EMBL AK313068 http://www.ebi.ac.uk/ena/data/view/AK313068 EMBL AL445524 http://www.ebi.ac.uk/ena/data/view/AL445524 EMBL AL445524 http://www.ebi.ac.uk/ena/data/view/AL445524 EMBL AL626763 http://www.ebi.ac.uk/ena/data/view/AL626763 EMBL AL626763 http://www.ebi.ac.uk/ena/data/view/AL626763 EMBL BC010376 http://www.ebi.ac.uk/ena/data/view/BC010376 EMBL BC011797 http://www.ebi.ac.uk/ena/data/view/BC011797 EMBL CH471098 http://www.ebi.ac.uk/ena/data/view/CH471098 EMBL X95073 http://www.ebi.ac.uk/ena/data/view/X95073 Ensembl ENST00000366639 http://www.ensembl.org/id/ENST00000366639 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0048471 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048471 GO_function GO:0003677 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003677 GO_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GO_function GO:0043565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043565 GO_function GO:0044822 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044822 GO_function GO:0046872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046872 GO_process GO:0007275 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007275 GO_process GO:0007283 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007283 GO_process GO:0030154 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030154 GO_process GO:0031047 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031047 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_function GO:0003677 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003677 GOslim_function GO:0003723 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003723 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0030154 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030154 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 Gene3D 1.20.58.190 http://www.cathdb.info/version/latest/superfamily/1.20.58.190 Gene3D 1.20.58.200 http://www.cathdb.info/version/latest/superfamily/1.20.58.200 GeneCards TSNAX http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=TSNAX GeneID 7257 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=7257 GeneTree ENSGT00390000014716 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000014716 HGNC HGNC:12380 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:12380 HOGENOM HOG000008075 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000008075&db=HOGENOM6 HOVERGEN HBG059067 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG059067&db=HOVERGEN HPA CAB034263 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB034263 HPA HPA031054 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA031054 HPA HPA031055 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA031055 InParanoid Q99598 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q99598 IntAct Q99598 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q99598* InterPro IPR002848 http://www.ebi.ac.uk/interpro/entry/IPR002848 InterPro IPR016068 http://www.ebi.ac.uk/interpro/entry/IPR016068 InterPro IPR016069 http://www.ebi.ac.uk/interpro/entry/IPR016069 Jabion 7257 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=7257 KEGG_Gene hsa:7257 http://www.genome.jp/dbget-bin/www_bget?hsa:7257 MIM 602964 http://www.ncbi.nlm.nih.gov/omim/602964 MINT MINT-1347706 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1347706 OMA CISSVGN http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=CISSVGN OrthoDB EOG091G0JHU http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0JHU PANTHER PTHR10741 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10741 PDB 3PJA http://www.ebi.ac.uk/pdbe-srv/view/entry/3PJA PDB 3QB5 http://www.ebi.ac.uk/pdbe-srv/view/entry/3QB5 PDBsum 3PJA http://www.ebi.ac.uk/pdbsum/3PJA PDBsum 3QB5 http://www.ebi.ac.uk/pdbsum/3QB5 PSORT swissprot:TSNAX_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:TSNAX_HUMAN PSORT-B swissprot:TSNAX_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:TSNAX_HUMAN PSORT2 swissprot:TSNAX_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:TSNAX_HUMAN Pfam PF01997 http://pfam.xfam.org/family/PF01997 PharmGKB PA37048 http://www.pharmgkb.org/do/serve?objId=PA37048&objCls=Gene Phobius swissprot:TSNAX_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:TSNAX_HUMAN PhylomeDB Q99598 http://phylomedb.org/?seqid=Q99598 ProteinModelPortal Q99598 http://www.proteinmodelportal.org/query/uniprot/Q99598 PubMed 11801738 http://www.ncbi.nlm.nih.gov/pubmed/11801738 PubMed 12036294 http://www.ncbi.nlm.nih.gov/pubmed/12036294 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15561718 http://www.ncbi.nlm.nih.gov/pubmed/15561718 PubMed 15919079 http://www.ncbi.nlm.nih.gov/pubmed/15919079 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 19608861 http://www.ncbi.nlm.nih.gov/pubmed/19608861 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 21552258 http://www.ncbi.nlm.nih.gov/pubmed/21552258 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 9013868 http://www.ncbi.nlm.nih.gov/pubmed/9013868 Reactome R-HSA-426486 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-426486 RefSeq NP_005990 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_005990 SMR Q99598 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q99598 STRING 9606.ENSP00000355599 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000355599&targetmode=cogs SUPFAM SSF74784 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF74784 UCSC uc001huw http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001huw&org=rat UniGene Hs.13318 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.13318 UniProtKB TSNAX_HUMAN http://www.uniprot.org/uniprot/TSNAX_HUMAN UniProtKB-AC Q99598 http://www.uniprot.org/uniprot/Q99598 charge swissprot:TSNAX_HUMAN http://rest.g-language.org/emboss/charge/swissprot:TSNAX_HUMAN eggNOG COG2178 http://eggnogapi.embl.de/nog_data/html/tree/COG2178 eggNOG KOG3066 http://eggnogapi.embl.de/nog_data/html/tree/KOG3066 epestfind swissprot:TSNAX_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:TSNAX_HUMAN garnier swissprot:TSNAX_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:TSNAX_HUMAN helixturnhelix swissprot:TSNAX_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:TSNAX_HUMAN hmoment swissprot:TSNAX_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:TSNAX_HUMAN iep swissprot:TSNAX_HUMAN http://rest.g-language.org/emboss/iep/swissprot:TSNAX_HUMAN inforesidue swissprot:TSNAX_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:TSNAX_HUMAN neXtProt NX_Q99598 http://www.nextprot.org/db/entry/NX_Q99598 octanol swissprot:TSNAX_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:TSNAX_HUMAN pepcoil swissprot:TSNAX_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:TSNAX_HUMAN pepdigest swissprot:TSNAX_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:TSNAX_HUMAN pepinfo swissprot:TSNAX_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:TSNAX_HUMAN pepnet swissprot:TSNAX_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:TSNAX_HUMAN pepstats swissprot:TSNAX_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:TSNAX_HUMAN pepwheel swissprot:TSNAX_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:TSNAX_HUMAN pepwindow swissprot:TSNAX_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:TSNAX_HUMAN sigcleave swissprot:TSNAX_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:TSNAX_HUMAN ## Database ID URL or Descriptions # CDD cd06174 MFS # Ensembl ENST00000326192 ENSP00000321549; ENSG00000197658 # ExpressionAtlas Q8N4F4 baseline and differential # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_function GO:0005452 inorganic anion exchanger activity; IBA:GO_Central. # GO_function GO:0015347 sodium-independent organic anion transmembrane transporter activity; IBA:GO_Central. # GO_process GO:0043252 sodium-independent organic anion transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # Genevisible Q8N4F4 HS # HGNC HGNC:28542 SLC22A24 # InterPro IPR011701 MFS # InterPro IPR020846 MFS_dom # KEGG_Brite ko02000 Transporters # KEGG_Brite ko02001 Solute carrier family # MIM 611698 gene # Organism S22AO_HUMAN Homo sapiens (Human) # PROSITE PS50850 MFS # Pfam PF07690 MFS_1 # Proteomes UP000005640 Chromosome 11 # RecName S22AO_HUMAN Solute carrier family 22 member 24 # RefSeq NP_775857 NM_173586.2 # SIMILARITY Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family. {ECO 0000305}. # SUBCELLULAR LOCATION S22AO_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # SUPFAM SSF103473 SSF103473 # UCSC uc010rmn human # eggNOG COG0477 LUCA # eggNOG KOG0255 Eukaryota BLAST swissprot:S22AO_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S22AO_HUMAN BioCyc ZFISH:ENSG00000176642-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000176642-MONOMER COXPRESdb 283238 http://coxpresdb.jp/data/gene/283238.shtml CleanEx HS_SLC22A24 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC22A24 DOI 10.1016/j.ygeno.2007.03.017 http://dx.doi.org/10.1016/j.ygeno.2007.03.017 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL BC034394 http://www.ebi.ac.uk/ena/data/view/BC034394 Ensembl ENST00000326192 http://www.ensembl.org/id/ENST00000326192 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0005452 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005452 GO_function GO:0015347 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015347 GO_process GO:0043252 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043252 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GeneCards SLC22A24 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC22A24 GeneID 283238 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=283238 H-InvDB HIX0009734 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0009734 HGNC HGNC:28542 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:28542 HOGENOM HOG000234569 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000234569&db=HOGENOM6 HOVERGEN HBG108433 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG108433&db=HOVERGEN HPA HPA045015 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA045015 InParanoid Q8N4F4 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8N4F4 IntAct Q8N4F4 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q8N4F4* InterPro IPR011701 http://www.ebi.ac.uk/interpro/entry/IPR011701 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 283238 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=283238 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:283238 http://www.genome.jp/dbget-bin/www_bget?hsa:283238 KEGG_Orthology KO:K08206 http://www.genome.jp/dbget-bin/www_bget?KO:K08206 MIM 611698 http://www.ncbi.nlm.nih.gov/omim/611698 MINT MINT-1451757 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1451757 PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PSORT swissprot:S22AO_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S22AO_HUMAN PSORT-B swissprot:S22AO_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S22AO_HUMAN PSORT2 swissprot:S22AO_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S22AO_HUMAN Pfam PF07690 http://pfam.xfam.org/family/PF07690 Phobius swissprot:S22AO_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S22AO_HUMAN PhylomeDB Q8N4F4 http://phylomedb.org/?seqid=Q8N4F4 ProteinModelPortal Q8N4F4 http://www.proteinmodelportal.org/query/uniprot/Q8N4F4 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 17714910 http://www.ncbi.nlm.nih.gov/pubmed/17714910 RefSeq NP_775857 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_775857 STRING 9606.ENSP00000396586 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000396586&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 UCSC uc010rmn http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc010rmn&org=rat UniGene Hs.375139 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.375139 UniProtKB S22AO_HUMAN http://www.uniprot.org/uniprot/S22AO_HUMAN UniProtKB-AC Q8N4F4 http://www.uniprot.org/uniprot/Q8N4F4 charge swissprot:S22AO_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S22AO_HUMAN eggNOG COG0477 http://eggnogapi.embl.de/nog_data/html/tree/COG0477 eggNOG KOG0255 http://eggnogapi.embl.de/nog_data/html/tree/KOG0255 epestfind swissprot:S22AO_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S22AO_HUMAN garnier swissprot:S22AO_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S22AO_HUMAN helixturnhelix swissprot:S22AO_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S22AO_HUMAN hmoment swissprot:S22AO_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S22AO_HUMAN iep swissprot:S22AO_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S22AO_HUMAN inforesidue swissprot:S22AO_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S22AO_HUMAN neXtProt NX_Q8N4F4 http://www.nextprot.org/db/entry/NX_Q8N4F4 octanol swissprot:S22AO_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S22AO_HUMAN pepcoil swissprot:S22AO_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S22AO_HUMAN pepdigest swissprot:S22AO_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S22AO_HUMAN pepinfo swissprot:S22AO_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S22AO_HUMAN pepnet swissprot:S22AO_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S22AO_HUMAN pepstats swissprot:S22AO_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S22AO_HUMAN pepwheel swissprot:S22AO_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S22AO_HUMAN pepwindow swissprot:S22AO_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S22AO_HUMAN sigcleave swissprot:S22AO_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S22AO_HUMAN ## Database ID URL or Descriptions # AltName YLAT1_HUMAN Monocyte amino acid permease 2 # AltName YLAT1_HUMAN Solute carrier family 7 member 7 # AltName YLAT1_HUMAN y(+)L-type amino acid transporter 1 # BIOPHYSICOCHEMICAL PROPERTIES YLAT1_HUMAN Kinetic parameters KM=31.7 uM for L-leucine (in the presence of 0.1 M NaCl) {ECO 0000269|PubMed 9878049}; KM=16.2 uM for L-leucine (in the presence of 0.1 M LiCl) {ECO 0000269|PubMed 9878049}; # BioGrid 114518 2 # ChiTaRS SLC7A7 human # DISEASE YLAT1_HUMAN Lysinuric protein intolerance (LPI) [MIM 222700] A metabolic disorder characterized by increased renal excretion of cationic amino acid (CAA), reduced CAA absorption from intestine, and orotic aciduria. On a normal diet, LPI patients present poor feeding, vomiting, diarrhea, episodes of hyperammoniaemic coma and growth retardation. Hepatosplenomegaly, osteoporosis and a life- threatening pulmonary involvement (alveolar proteinosis) are also seen. Biochemically LPI is characterized by defective transport of dibasic amino acids at the basolateral membrane of epithelial cells in kidney and intestine. {ECO 0000269|PubMed 10080182, ECO 0000269|PubMed 10631139, ECO 0000269|PubMed 10655553, ECO 0000269|PubMed 12402335, ECO 0000269|PubMed 15776427, ECO 0000269|PubMed 17764084, ECO 0000269|PubMed 9829974}. Note=The disease is caused by mutations affecting the gene represented in this entry. # ENZYME REGULATION YLAT1_HUMAN Arginine transport is inhibited by protein kinase C (PKC) and treatment with phorbol-12-myristate-13-acetate (PMA). # Ensembl ENST00000285850 ENSP00000285850; ENSG00000155465 # Ensembl ENST00000397528 ENSP00000380662; ENSG00000155465 # Ensembl ENST00000397529 ENSP00000380663; ENSG00000155465 # Ensembl ENST00000397532 ENSP00000380666; ENSG00000155465 # Ensembl ENST00000555702 ENSP00000451881; ENSG00000155465 # ExpressionAtlas Q9UM01 baseline and differential # FUNCTION YLAT1_HUMAN Involved in the sodium-independent uptake of dibasic amino acids and sodium-dependent uptake of some neutral amino acids. Requires coexpression with SLC3A2/4F2hc to mediate the uptake of arginine, leucine and glutamine. Plays a role in nitric oxide synthesis in human umbilical vein endothelial cells (HUVECs) via transport of L-arginine. Involved in the transport of L- arginine in monocytes. {ECO 0000269|PubMed 14603368, ECO 0000269|PubMed 15280038, ECO 0000269|PubMed 17329401, ECO 0000269|PubMed 9829974, ECO 0000269|PubMed 9878049}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0016323 basolateral plasma membrane; IEA:UniProtKB-SubCell. # GO_function GO:0015174 basic amino acid transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015179 L-amino acid transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015297 antiporter activity; IBA:GO_Central. # GO_process GO:0000821 regulation of arginine metabolic process; IBA:GO_Central. # GO_process GO:0006461 protein complex assembly; TAS:ProtInc. # GO_process GO:0006520 cellular amino acid metabolic process; TAS:ProtInc. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0006865 amino acid transport; TAS:Reactome. # GO_process GO:0050900 leukocyte migration; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0002376 immune system process # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006520 cellular amino acid metabolic process # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0048870 cell motility # Genevisible Q9UM01 HS # HGNC HGNC:11065 SLC7A7 # INDUCTION Expression is stimulated and enhanced by IFNG/IFN- gamma. {ECO:0000269|PubMed 15280038}. # InterPro IPR002293 AA/rel_permease1 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02001 Solute carrier family # KEGG_Disease H00899 [Urinary system disease; Inherited metabolic disease] Lysinuric protein intolerance (LPI) # KEGG_Disease H01400:[Inherited metabolic disease] Glutamine synthetase deficiency [DS H00923] # KEGG_Pathway ko04974 Protein digestion and absorption # MIM 222700 phenotype # MIM 603593 gene # Organism YLAT1_HUMAN Homo sapiens (Human) # Orphanet 470 Lysinuric protein intolerance # PANTHER PTHR11785 PTHR11785 # PIRSF PIRSF006060 AA_transporter # Pfam PF13520 AA_permease_2 # Proteomes UP000005640 Chromosome 14 # Reactome R-HSA-210991 Basigin interactions # Reactome R-HSA-352230 Amino acid transport across the plasma membrane # RecName YLAT1_HUMAN Y+L amino acid transporter 1 # RefSeq NP_001119577 NM_001126105.2 # RefSeq NP_001119578 NM_001126106.2 # RefSeq XP_006720365 XM_006720302.1 # RefSeq XP_011535600 XM_011537298.2 # RefSeq XP_011535601 XM_011537299.1 # SEQUENCE CAUTION Sequence=BAA95120.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAD62619.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the amino acid-polyamine-organocation (APC) superfamily. L-type amino acid transporter (LAT) (TC 2.A.3.8) family. {ECO 0000305}. # SUBCELLULAR LOCATION YLAT1_HUMAN Basolateral cell membrane {ECO 0000269|PubMed 15756301}; Multi-pass membrane protein {ECO 0000269|PubMed 15756301}. # SUBUNIT YLAT1_HUMAN Disulfide-linked heterodimer with the amino acid transport protein SLC3A2/4F2hc. {ECO 0000269|PubMed 9829974, ECO 0000269|PubMed 9878049}. # TCDB 2.A.3.8.22 the amino acid-polyamine-organocation (apc) family # TISSUE SPECIFICITY YLAT1_HUMAN Highest expression in kidney and peripheral blood leukocytes. Weaker expression is observed in lung, heart, placenta, spleen, testis and small intestine. Expressed in normal fibroblasts and those from LPI patients. Also expressed in HUVECs, monocytes, retinal pigment epithelial cells, and various carcinoma cell lines, with highest expression in a colon-carcinoma cell line. {ECO 0000269|PubMed 10080183, ECO 0000269|PubMed 11078698, ECO 0000269|PubMed 11742806, ECO 0000269|PubMed 15280038, ECO 0000269|PubMed 17197568, ECO 0000269|PubMed 17329401, ECO 0000269|PubMed 9829974}. # UCSC uc001wgr human # eggNOG COG0531 LUCA # eggNOG KOG1287 Eukaryota BLAST swissprot:YLAT1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:YLAT1_HUMAN BioCyc ZFISH:ENSG00000155465-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000155465-MONOMER COXPRESdb 9056 http://coxpresdb.jp/data/gene/9056.shtml CleanEx HS_SLC7A7 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC7A7 DOI 10.1002/(SICI)1098-1004(200004)15:4<367::AID-HUMU9>3.0.CO http://dx.doi.org/10.1002/(SICI)1098-1004(200004)15:4<367::AID-HUMU9>3.0.CO DOI 10.1002/humu.10140 http://dx.doi.org/10.1002/humu.10140 DOI 10.1002/humu.20589 http://dx.doi.org/10.1002/humu.20589 DOI 10.1002/humu.9323 http://dx.doi.org/10.1002/humu.9323 DOI 10.1016/j.febslet.2004.06.086 http://dx.doi.org/10.1016/j.febslet.2004.06.086 DOI 10.1038/6809 http://dx.doi.org/10.1038/6809 DOI 10.1038/6815 http://dx.doi.org/10.1038/6815 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1038/sj.ejhg.5201376 http://dx.doi.org/10.1038/sj.ejhg.5201376 DOI 10.1074/jbc.273.49.32437 http://dx.doi.org/10.1074/jbc.273.49.32437 DOI 10.1086/302700 http://dx.doi.org/10.1086/302700 DOI 10.1093/emboj/18.1.49 http://dx.doi.org/10.1093/emboj/18.1.49 DOI 10.1093/hmg/9.3.431 http://dx.doi.org/10.1093/hmg/9.3.431 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1113/eph8802647 http://dx.doi.org/10.1113/eph8802647 DOI 10.1126/science.1133427 http://dx.doi.org/10.1126/science.1133427 DOI 10.1152/ajpcell.00323.2006 http://dx.doi.org/10.1152/ajpcell.00323.2006 DOI 10.1167/iovs.06-0398 http://dx.doi.org/10.1167/iovs.06-0398 EMBL AB011263 http://www.ebi.ac.uk/ena/data/view/AB011263 EMBL AB020532 http://www.ebi.ac.uk/ena/data/view/AB020532 EMBL AB031537 http://www.ebi.ac.uk/ena/data/view/AB031537 EMBL AF092032 http://www.ebi.ac.uk/ena/data/view/AF092032 EMBL AJ130718 http://www.ebi.ac.uk/ena/data/view/AJ130718 EMBL AK314351 http://www.ebi.ac.uk/ena/data/view/AK314351 EMBL BC003062 http://www.ebi.ac.uk/ena/data/view/BC003062 EMBL BC010107 http://www.ebi.ac.uk/ena/data/view/BC010107 EMBL BX161519 http://www.ebi.ac.uk/ena/data/view/BX161519 EMBL BX248291 http://www.ebi.ac.uk/ena/data/view/BX248291 EMBL CH471078 http://www.ebi.ac.uk/ena/data/view/CH471078 EMBL CH471078 http://www.ebi.ac.uk/ena/data/view/CH471078 EMBL CH471078 http://www.ebi.ac.uk/ena/data/view/CH471078 EMBL CH471078 http://www.ebi.ac.uk/ena/data/view/CH471078 EMBL Y18474 http://www.ebi.ac.uk/ena/data/view/Y18474 Ensembl ENST00000285850 http://www.ensembl.org/id/ENST00000285850 Ensembl ENST00000397528 http://www.ensembl.org/id/ENST00000397528 Ensembl ENST00000397529 http://www.ensembl.org/id/ENST00000397529 Ensembl ENST00000397532 http://www.ensembl.org/id/ENST00000397532 Ensembl ENST00000555702 http://www.ensembl.org/id/ENST00000555702 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016323 GO_function GO:0015174 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015174 GO_function GO:0015179 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015179 GO_function GO:0015297 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015297 GO_process GO:0000821 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000821 GO_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GO_process GO:0006520 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006520 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0006865 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006865 GO_process GO:0050900 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050900 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0002376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002376 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006520 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006520 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0048870 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048870 GeneCards SLC7A7 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC7A7 GeneID 9056 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=9056 GeneTree ENSGT00760000119037 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119037 HGNC HGNC:11065 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11065 HOVERGEN HBG000476 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG000476&db=HOVERGEN HPA HPA036227 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA036227 InParanoid Q9UM01 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9UM01 IntAct Q9UM01 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9UM01* InterPro IPR002293 http://www.ebi.ac.uk/interpro/entry/IPR002293 Jabion 9056 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=9056 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Disease H00899 http://www.genome.jp/dbget-bin/www_bget?H00899 KEGG_Disease H01400 http://www.genome.jp/dbget-bin/www_bget?H01400 KEGG_Gene hsa:9056 http://www.genome.jp/dbget-bin/www_bget?hsa:9056 KEGG_Orthology KO:K13867 http://www.genome.jp/dbget-bin/www_bget?KO:K13867 KEGG_Pathway ko04974 http://www.genome.jp/kegg-bin/show_pathway?ko04974 MIM 222700 http://www.ncbi.nlm.nih.gov/omim/222700 MIM 603593 http://www.ncbi.nlm.nih.gov/omim/603593 OMA DFLCMIH http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=DFLCMIH Orphanet 470 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=470 OrthoDB EOG091G07EM http://cegg.unige.ch/orthodb/results?searchtext=EOG091G07EM PANTHER PTHR11785 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11785 PSORT swissprot:YLAT1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:YLAT1_HUMAN PSORT-B swissprot:YLAT1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:YLAT1_HUMAN PSORT2 swissprot:YLAT1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:YLAT1_HUMAN Pfam PF13520 http://pfam.xfam.org/family/PF13520 PharmGKB PA35925 http://www.pharmgkb.org/do/serve?objId=PA35925&objCls=Gene Phobius swissprot:YLAT1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:YLAT1_HUMAN PhylomeDB Q9UM01 http://phylomedb.org/?seqid=Q9UM01 ProteinModelPortal Q9UM01 http://www.proteinmodelportal.org/query/uniprot/Q9UM01 PubMed 10080182 http://www.ncbi.nlm.nih.gov/pubmed/10080182 PubMed 10080183 http://www.ncbi.nlm.nih.gov/pubmed/10080183 PubMed 10631139 http://www.ncbi.nlm.nih.gov/pubmed/10631139 PubMed 10655553 http://www.ncbi.nlm.nih.gov/pubmed/10655553 PubMed 10737982 http://www.ncbi.nlm.nih.gov/pubmed/10737982 PubMed 11078698 http://www.ncbi.nlm.nih.gov/pubmed/11078698 PubMed 11742806 http://www.ncbi.nlm.nih.gov/pubmed/11742806 PubMed 12402335 http://www.ncbi.nlm.nih.gov/pubmed/12402335 PubMed 14603368 http://www.ncbi.nlm.nih.gov/pubmed/14603368 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15280038 http://www.ncbi.nlm.nih.gov/pubmed/15280038 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15756301 http://www.ncbi.nlm.nih.gov/pubmed/15756301 PubMed 15776427 http://www.ncbi.nlm.nih.gov/pubmed/15776427 PubMed 16959974 http://www.ncbi.nlm.nih.gov/pubmed/16959974 PubMed 17197568 http://www.ncbi.nlm.nih.gov/pubmed/17197568 PubMed 17329401 http://www.ncbi.nlm.nih.gov/pubmed/17329401 PubMed 17764084 http://www.ncbi.nlm.nih.gov/pubmed/17764084 PubMed 9829974 http://www.ncbi.nlm.nih.gov/pubmed/9829974 PubMed 9878049 http://www.ncbi.nlm.nih.gov/pubmed/9878049 Reactome R-HSA-210991 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-210991 Reactome R-HSA-352230 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-352230 RefSeq NP_001119577 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001119577 RefSeq NP_001119578 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001119578 RefSeq XP_006720365 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006720365 RefSeq XP_011535600 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011535600 RefSeq XP_011535601 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011535601 STRING 9606.ENSP00000285850 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000285850&targetmode=cogs TCDB 2.A.3.8.22 http://www.tcdb.org/search/result.php?tc=2.A.3.8.22 UCSC uc001wgr http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001wgr&org=rat UniGene Hs.513147 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.513147 UniGene Hs.732349 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.732349 UniProtKB YLAT1_HUMAN http://www.uniprot.org/uniprot/YLAT1_HUMAN UniProtKB-AC Q9UM01 http://www.uniprot.org/uniprot/Q9UM01 charge swissprot:YLAT1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:YLAT1_HUMAN eggNOG COG0531 http://eggnogapi.embl.de/nog_data/html/tree/COG0531 eggNOG KOG1287 http://eggnogapi.embl.de/nog_data/html/tree/KOG1287 epestfind swissprot:YLAT1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:YLAT1_HUMAN garnier swissprot:YLAT1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:YLAT1_HUMAN helixturnhelix swissprot:YLAT1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:YLAT1_HUMAN hmoment swissprot:YLAT1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:YLAT1_HUMAN iep swissprot:YLAT1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:YLAT1_HUMAN inforesidue swissprot:YLAT1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:YLAT1_HUMAN neXtProt NX_Q9UM01 http://www.nextprot.org/db/entry/NX_Q9UM01 octanol swissprot:YLAT1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:YLAT1_HUMAN pepcoil swissprot:YLAT1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:YLAT1_HUMAN pepdigest swissprot:YLAT1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:YLAT1_HUMAN pepinfo swissprot:YLAT1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:YLAT1_HUMAN pepnet swissprot:YLAT1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:YLAT1_HUMAN pepstats swissprot:YLAT1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:YLAT1_HUMAN pepwheel swissprot:YLAT1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:YLAT1_HUMAN pepwindow swissprot:YLAT1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:YLAT1_HUMAN sigcleave swissprot:YLAT1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:YLAT1_HUMAN ## Database ID URL or Descriptions # AltName ZNT1_HUMAN Solute carrier family 30 member 1 # BioGrid 113560 20 # Ensembl ENST00000367001 ENSP00000355968; ENSG00000170385 # FUNCTION ZNT1_HUMAN May be involved in zinc transport out of the cell. # GO_component GO:0005737 cytoplasm; IDA:UniProtKB. # GO_component GO:0005783 endoplasmic reticulum; IDA:UniProtKB. # GO_component GO:0005794 Golgi apparatus; IDA:UniProtKB. # GO_component GO:0005886 plasma membrane; IDA:BHF-UCL. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0030315 T-tubule; ISS:BHF-UCL. # GO_component GO:0031965 nuclear membrane; IDA:UniProtKB. # GO_function GO:0005385 zinc ion transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0019855 calcium channel inhibitor activity; ISS:BHF-UCL. # GO_process GO:0001701 in utero embryonic development; IEA:Ensembl. # GO_process GO:0006829 zinc II ion transport; ISS:BHF-UCL. # GO_process GO:0006874 cellular calcium ion homeostasis; ISS:BHF-UCL. # GO_process GO:0006882 cellular zinc ion homeostasis; ISS:BHF-UCL. # GO_process GO:0010043 response to zinc ion; IBA:GO_Central. # GO_process GO:0046929 negative regulation of neurotransmitter secretion; ISS:BHF-UCL. # GO_process GO:0061088 regulation of sequestering of zinc ion; IBA:GO_Central. # GO_process GO:0070509 calcium ion import; IEA:Ensembl. # GO_process GO:0070574 cadmium ion transmembrane transport; ISS:BHF-UCL. # GO_process GO:0071584 negative regulation of zinc ion transmembrane import; ISS:BHF-UCL. # GO_process GO:0071585 detoxification of cadmium ion; IEA:Ensembl. # GO_process GO:0090281 negative regulation of calcium ion import; ISS:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_component GO:0005794 Golgi apparatus # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0009790 embryo development # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.20.1510.10 -; 3. # Genevisible Q9Y6M5 HS # HGNC HGNC:11012 SLC30A1 # IntAct Q9Y6M5 4 # InterPro IPR002524 Cation_efflux # InterPro IPR027469 Cation_efflux_TMD # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02001 Solute carrier family # KEGG_Pathway ko04978 Mineral absorption # MIM 609521 gene # Organism ZNT1_HUMAN Homo sapiens (Human) # PANTHER PTHR11562 PTHR11562; 3 # Pfam PF01545 Cation_efflux # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-435368 Zinc efflux and compartmentalization by the SLC30 family # RecName ZNT1_HUMAN Zinc transporter 1 # RefSeq NP_067017 NM_021194.2 # SIMILARITY Belongs to the cation diffusion facilitator (CDF) transporter (TC 2.A.4) family. SLC30A subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION ZNT1_HUMAN Cell membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # SUBUNIT Multimer. {ECO 0000305}. # TCDB 2.A.4.2 the cation diffusion facilitator (cdf) family # TIGRFAMs TIGR01297 CDF # UCSC uc001hio human # eggNOG COG1230 LUCA # eggNOG KOG1483 Eukaryota BLAST swissprot:ZNT1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ZNT1_HUMAN BioCyc ZFISH:ENSG00000170385-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000170385-MONOMER COG COG1230 http://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=COG1230 COXPRESdb 7779 http://coxpresdb.jp/data/gene/7779.shtml CleanEx HS_SLC30A1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC30A1 DOI 10.1016/j.cell.2006.09.026 http://dx.doi.org/10.1016/j.cell.2006.09.026 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/scisignal.2001570 http://dx.doi.org/10.1126/scisignal.2001570 EMBL AB451467 http://www.ebi.ac.uk/ena/data/view/AB451467 EMBL AF048701 http://www.ebi.ac.uk/ena/data/view/AF048701 EMBL AF323590 http://www.ebi.ac.uk/ena/data/view/AF323590 EMBL BC121015 http://www.ebi.ac.uk/ena/data/view/BC121015 EMBL BC121016 http://www.ebi.ac.uk/ena/data/view/BC121016 EMBL CH471100 http://www.ebi.ac.uk/ena/data/view/CH471100 Ensembl ENST00000367001 http://www.ensembl.org/id/ENST00000367001 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GO_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0030315 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030315 GO_component GO:0031965 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031965 GO_function GO:0005385 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005385 GO_function GO:0019855 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019855 GO_process GO:0001701 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001701 GO_process GO:0006829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006829 GO_process GO:0006874 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006874 GO_process GO:0006882 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006882 GO_process GO:0010043 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010043 GO_process GO:0046929 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046929 GO_process GO:0061088 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061088 GO_process GO:0070509 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070509 GO_process GO:0070574 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070574 GO_process GO:0071584 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071584 GO_process GO:0071585 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071585 GO_process GO:0090281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090281 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0009790 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009790 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.20.1510.10 http://www.cathdb.info/version/latest/superfamily/1.20.1510.10 GeneCards SLC30A1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC30A1 GeneID 7779 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=7779 GeneTree ENSGT00550000074381 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074381 HGNC HGNC:11012 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11012 HOGENOM HOG000166089 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000166089&db=HOGENOM6 HOVERGEN HBG000588 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG000588&db=HOVERGEN HPA HPA015275 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA015275 HPA HPA049000 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA049000 InParanoid Q9Y6M5 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9Y6M5 IntAct Q9Y6M5 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9Y6M5* InterPro IPR002524 http://www.ebi.ac.uk/interpro/entry/IPR002524 InterPro IPR027469 http://www.ebi.ac.uk/interpro/entry/IPR027469 Jabion 7779 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=7779 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:7779 http://www.genome.jp/dbget-bin/www_bget?hsa:7779 KEGG_Orthology KO:K14688 http://www.genome.jp/dbget-bin/www_bget?KO:K14688 KEGG_Pathway ko04978 http://www.genome.jp/kegg-bin/show_pathway?ko04978 MIM 609521 http://www.ncbi.nlm.nih.gov/omim/609521 OMA HHHSGFS http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=HHHSGFS OrthoDB EOG091G08R5 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G08R5 PANTHER PTHR11562 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11562 PSORT swissprot:ZNT1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ZNT1_HUMAN PSORT-B swissprot:ZNT1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ZNT1_HUMAN PSORT2 swissprot:ZNT1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ZNT1_HUMAN Pfam PF01545 http://pfam.xfam.org/family/PF01545 PharmGKB PA35882 http://www.pharmgkb.org/do/serve?objId=PA35882&objCls=Gene Phobius swissprot:ZNT1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ZNT1_HUMAN PhylomeDB Q9Y6M5 http://phylomedb.org/?seqid=Q9Y6M5 ProteinModelPortal Q9Y6M5 http://www.proteinmodelportal.org/query/uniprot/Q9Y6M5 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 17081983 http://www.ncbi.nlm.nih.gov/pubmed/17081983 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 21406692 http://www.ncbi.nlm.nih.gov/pubmed/21406692 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 Reactome R-HSA-435368 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-435368 RefSeq NP_067017 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_067017 STRING 9606.ENSP00000355968 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000355968&targetmode=cogs STRING COG1230 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=COG1230&targetmode=cogs TCDB 2.A.4.2 http://www.tcdb.org/search/result.php?tc=2.A.4.2 TIGRFAMs TIGR01297 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01297 UCSC uc001hio http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001hio&org=rat UniGene Hs.519469 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.519469 UniProtKB ZNT1_HUMAN http://www.uniprot.org/uniprot/ZNT1_HUMAN UniProtKB-AC Q9Y6M5 http://www.uniprot.org/uniprot/Q9Y6M5 charge swissprot:ZNT1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ZNT1_HUMAN eggNOG COG1230 http://eggnogapi.embl.de/nog_data/html/tree/COG1230 eggNOG KOG1483 http://eggnogapi.embl.de/nog_data/html/tree/KOG1483 epestfind swissprot:ZNT1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ZNT1_HUMAN garnier swissprot:ZNT1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ZNT1_HUMAN helixturnhelix swissprot:ZNT1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ZNT1_HUMAN hmoment swissprot:ZNT1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ZNT1_HUMAN iep swissprot:ZNT1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ZNT1_HUMAN inforesidue swissprot:ZNT1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ZNT1_HUMAN neXtProt NX_Q9Y6M5 http://www.nextprot.org/db/entry/NX_Q9Y6M5 octanol swissprot:ZNT1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ZNT1_HUMAN pepcoil swissprot:ZNT1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ZNT1_HUMAN pepdigest swissprot:ZNT1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ZNT1_HUMAN pepinfo swissprot:ZNT1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ZNT1_HUMAN pepnet swissprot:ZNT1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ZNT1_HUMAN pepstats swissprot:ZNT1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ZNT1_HUMAN pepwheel swissprot:ZNT1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ZNT1_HUMAN pepwindow swissprot:ZNT1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ZNT1_HUMAN sigcleave swissprot:ZNT1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ZNT1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS TMC2_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q8TDI7-1; Sequence=Displayed; Name=2; IsoId=Q8TDI7-3; Sequence=VSP_015281, VSP_015282; Note=No experimental confirmation available.; Name=3; IsoId=Q8TDI7-4; Sequence=VSP_015279, VSP_015283, VSP_015284; Note=No experimental confirmation available.; # AltName TMC2_HUMAN Transmembrane cochlear-expressed protein 2 # CCDS CCDS13029 -. [Q8TDI7-1] # Ensembl ENST00000358864 ENSP00000351732; ENSG00000149488. [Q8TDI7-1] # FUNCTION TMC2_HUMAN Probable ion channel required for the normal function of cochlear hair cells. {ECO 0000269|PubMed 11850618}. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0032426 stereocilium tip; IEA:Ensembl. # GO_function GO:0005245 voltage-gated calcium channel activity; IEA:Ensembl. # GO_process GO:0050910 detection of mechanical stimulus involved in sensory perception of sound; IEA:Ensembl. # GO_process GO:0060005 vestibular reflex; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0008150 biological_process # GOslim_process GO:0050877 neurological system process # Genevisible Q8TDI7 HS # HGNC HGNC:16527 TMC2 # InterPro IPR012496 TMC # MIM 606707 gene # Organism TMC2_HUMAN Homo sapiens (Human) # Pfam PF07810 TMC # Proteomes UP000005640 Chromosome 20 # RecName TMC2_HUMAN Transmembrane channel-like protein 2 # RefSeq NP_542789 NM_080751.2. [Q8TDI7-1] # SEQUENCE CAUTION Sequence=AAQ88976.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAC04423.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the TMC family. {ECO 0000305}. # SUBCELLULAR LOCATION TMC2_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # TISSUE SPECIFICITY TMC2_HUMAN Detected in fetal cochlea. # UCSC uc002wgf human. [Q8TDI7-1] # eggNOG ENOG410IF2J Eukaryota # eggNOG ENOG410XTGF LUCA BLAST swissprot:TMC2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:TMC2_HUMAN BioCyc ZFISH:ENSG00000149488-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000149488-MONOMER COXPRESdb 117532 http://coxpresdb.jp/data/gene/117532.shtml DOI 10.1038/414865a http://dx.doi.org/10.1038/414865a DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1038/ng842 http://dx.doi.org/10.1038/ng842 DOI 10.1101/gr.1293003 http://dx.doi.org/10.1101/gr.1293003 EMBL AF417580 http://www.ebi.ac.uk/ena/data/view/AF417580 EMBL AK094789 http://www.ebi.ac.uk/ena/data/view/AK094789 EMBL AK127751 http://www.ebi.ac.uk/ena/data/view/AK127751 EMBL AL049712 http://www.ebi.ac.uk/ena/data/view/AL049712 EMBL AY358613 http://www.ebi.ac.uk/ena/data/view/AY358613 Ensembl ENST00000358864 http://www.ensembl.org/id/ENST00000358864 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0032426 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032426 GO_function GO:0005245 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005245 GO_process GO:0050910 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050910 GO_process GO:0060005 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060005 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GeneCards TMC2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=TMC2 GeneID 117532 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=117532 GeneTree ENSGT00760000119171 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119171 H-InvDB HIX0022417 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0022417 HGNC HGNC:16527 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:16527 HOVERGEN HBG036209 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG036209&db=HOVERGEN HPA HPA046350 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA046350 InParanoid Q8TDI7 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8TDI7 InterPro IPR012496 http://www.ebi.ac.uk/interpro/entry/IPR012496 Jabion 117532 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=117532 KEGG_Gene hsa:117532 http://www.genome.jp/dbget-bin/www_bget?hsa:117532 MIM 606707 http://www.ncbi.nlm.nih.gov/omim/606707 OMA NRMYDVL http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=NRMYDVL OrthoDB EOG091G00X0 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G00X0 PSORT swissprot:TMC2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:TMC2_HUMAN PSORT-B swissprot:TMC2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:TMC2_HUMAN PSORT2 swissprot:TMC2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:TMC2_HUMAN Pfam PF07810 http://pfam.xfam.org/family/PF07810 PharmGKB PA38158 http://www.pharmgkb.org/do/serve?objId=PA38158&objCls=Gene Phobius swissprot:TMC2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:TMC2_HUMAN PhylomeDB Q8TDI7 http://phylomedb.org/?seqid=Q8TDI7 ProteinModelPortal Q8TDI7 http://www.proteinmodelportal.org/query/uniprot/Q8TDI7 PubMed 11780052 http://www.ncbi.nlm.nih.gov/pubmed/11780052 PubMed 11850618 http://www.ncbi.nlm.nih.gov/pubmed/11850618 PubMed 12975309 http://www.ncbi.nlm.nih.gov/pubmed/12975309 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 RefSeq NP_542789 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_542789 UCSC uc002wgf http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002wgf&org=rat UniGene Hs.352626 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.352626 UniProtKB TMC2_HUMAN http://www.uniprot.org/uniprot/TMC2_HUMAN UniProtKB-AC Q8TDI7 http://www.uniprot.org/uniprot/Q8TDI7 charge swissprot:TMC2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:TMC2_HUMAN eggNOG ENOG410IF2J http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IF2J eggNOG ENOG410XTGF http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XTGF epestfind swissprot:TMC2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:TMC2_HUMAN garnier swissprot:TMC2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:TMC2_HUMAN helixturnhelix swissprot:TMC2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:TMC2_HUMAN hmoment swissprot:TMC2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:TMC2_HUMAN iep swissprot:TMC2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:TMC2_HUMAN inforesidue swissprot:TMC2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:TMC2_HUMAN neXtProt NX_Q8TDI7 http://www.nextprot.org/db/entry/NX_Q8TDI7 octanol swissprot:TMC2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:TMC2_HUMAN pepcoil swissprot:TMC2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:TMC2_HUMAN pepdigest swissprot:TMC2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:TMC2_HUMAN pepinfo swissprot:TMC2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:TMC2_HUMAN pepnet swissprot:TMC2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:TMC2_HUMAN pepstats swissprot:TMC2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:TMC2_HUMAN pepwheel swissprot:TMC2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:TMC2_HUMAN pepwindow swissprot:TMC2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:TMC2_HUMAN sigcleave swissprot:TMC2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:TMC2_HUMAN ## Database ID URL or Descriptions # AltName LRC8E_HUMAN Leucine-rich repeat-containing protein 8E # BioGrid 123131 18 # Ensembl ENST00000306708 ENSP00000306524; ENSG00000171017 # Ensembl ENST00000618098 ENSP00000479953; ENSG00000171017 # ExpressionAtlas Q6NSJ5 baseline and differential # FUNCTION LRC8E_HUMAN Non-essential component of the volume-regulated anion channel (VRAC, also named VSOAC channel), an anion channel required to maintain a constant cell volume in response to extracellular or intracellular osmotic changes. The VRAC channel conducts iodide better than chloride and may also conduct organic osmolytes like taurine. Channel activity requires LRRC8A plus at least one other family member (LRRC8B, LRRC8C, LRRC8D or LRRC8E); channel characteristics depend on the precise subunit composition. {ECO 0000269|PubMed 24790029, ECO 0000269|PubMed 26824658}. # GO_component GO:0005737 cytoplasm; IDA:UniProtKB. # GO_component GO:0005789 endoplasmic reticulum membrane; IEA:UniProtKB-SubCell. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0005887 integral component of plasma membrane; IMP:UniProtKB. # GO_function GO:0005225 volume-sensitive anion channel activity; IMP:UniProtKB. # GO_process GO:0098656 anion transmembrane transport; IMP:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0055085 transmembrane transport # Gene3D 3.80.10.10 -; 3. # Genevisible Q6NSJ5 HS # HGNC HGNC:26272 LRRC8E # INTERACTION LRC8E_HUMAN Q9C040 TRIM2; NbExp=3; IntAct=EBI-8647013, EBI-749840; # IntAct Q6NSJ5 4 # InterPro IPR001611 Leu-rich_rpt # InterPro IPR003591 Leu-rich_rpt_typical-subtyp # InterPro IPR021040 LRRC8_Pannexin-like # InterPro IPR032675 L_dom-like # KEGG_Disease H00085 [Primary immunodeficiency] Leucine-rich repeat-containing 8 # MIM 612891 gene # Organism LRC8E_HUMAN Homo sapiens (Human) # PROSITE PS51450 LRR; 8 # Pfam PF12534 Pannexin_like # Pfam PF13855 LRR_8; 2 # Proteomes UP000005640 Chromosome 19 # RecName LRC8E_HUMAN Volume-regulated anion channel subunit LRRC8E # RefSeq NP_001255213 NM_001268284.2 # RefSeq NP_001255214 NM_001268285.2 # RefSeq NP_079337 NM_025061.5 # RefSeq XP_011526621 XM_011528319.2 # SEQUENCE CAUTION Sequence=BAB15648.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB15648.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the LRRC8 family. {ECO 0000305}. # SIMILARITY Contains 11 LRR (leucine-rich) repeats. {ECO 0000305}. # SMART SM00369 LRR_TYP; 7 # SUBCELLULAR LOCATION LRC8E_HUMAN Cell membrane {ECO 0000269|PubMed 24790029}; Multi-pass membrane protein {ECO 0000305}. Endoplasmic reticulum membrane {ECO 0000305|PubMed 24790029}. Note=In the absence of LRRC8A, resides primarily in a cytoplasmic compartment, probably the endoplasmic reticulum. Requires LRRC8A for expression at the cell membrane. {ECO 0000269|PubMed 24790029}. # SUBUNIT LRC8E_HUMAN Heterooligomer; heterooligomerizes with other LRRC8 proteins (LRRC8A, LRRC8C, LRRC8D and/or LRRC8B), possibly to form a heterohexamer (PubMed 24790029, PubMed 26824658). In vivo, the subunit composition may depend primarily on expression levels, and heterooligomeric channels containing various proportions of the different LRRC8 proteins may coexist (Probable). {ECO 0000269|PubMed 24790029, ECO 0000269|PubMed 26824658, ECO 0000305}. # SUPFAM SSF52058 SSF52058 # TCDB 1.A.25.3 the gap junction-forming innexin (innexin) family # UCSC uc002mir human # eggNOG COG4886 LUCA # eggNOG KOG0619 Eukaryota BLAST swissprot:LRC8E_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:LRC8E_HUMAN COXPRESdb 80131 http://coxpresdb.jp/data/gene/80131.shtml CleanEx HS_LRRC8E http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_LRRC8E DIP DIP-61363N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-61363N DOI 10.1002/bies.201100173 http://dx.doi.org/10.1002/bies.201100173 DOI 10.1016/j.cell.2015.12.031 http://dx.doi.org/10.1016/j.cell.2015.12.031 DOI 10.1038/nature02399 http://dx.doi.org/10.1038/nature02399 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1252826 http://dx.doi.org/10.1126/science.1252826 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 EMBL AC010336 http://www.ebi.ac.uk/ena/data/view/AC010336 EMBL AK027073 http://www.ebi.ac.uk/ena/data/view/AK027073 EMBL AK091134 http://www.ebi.ac.uk/ena/data/view/AK091134 EMBL AL834474 http://www.ebi.ac.uk/ena/data/view/AL834474 EMBL BC022216 http://www.ebi.ac.uk/ena/data/view/BC022216 EMBL BC070089 http://www.ebi.ac.uk/ena/data/view/BC070089 EMBL BC108252 http://www.ebi.ac.uk/ena/data/view/BC108252 EMBL BX538180 http://www.ebi.ac.uk/ena/data/view/BX538180 EMBL CH471139 http://www.ebi.ac.uk/ena/data/view/CH471139 Ensembl ENST00000306708 http://www.ensembl.org/id/ENST00000306708 Ensembl ENST00000618098 http://www.ensembl.org/id/ENST00000618098 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005789 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005789 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0005225 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005225 GO_process GO:0098656 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0098656 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 3.80.10.10 http://www.cathdb.info/version/latest/superfamily/3.80.10.10 GeneCards LRRC8E http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=LRRC8E GeneID 80131 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=80131 GeneTree ENSGT00840000129676 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00840000129676 H-InvDB HIX0202737 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0202737 HGNC HGNC:26272 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:26272 HOGENOM HOG000231806 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231806&db=HOGENOM6 HOVERGEN HBG052360 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052360&db=HOVERGEN HPA HPA020466 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA020466 InParanoid Q6NSJ5 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q6NSJ5 IntAct Q6NSJ5 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q6NSJ5* InterPro IPR001611 http://www.ebi.ac.uk/interpro/entry/IPR001611 InterPro IPR003591 http://www.ebi.ac.uk/interpro/entry/IPR003591 InterPro IPR021040 http://www.ebi.ac.uk/interpro/entry/IPR021040 InterPro IPR032675 http://www.ebi.ac.uk/interpro/entry/IPR032675 Jabion 80131 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=80131 KEGG_Disease H00085 http://www.genome.jp/dbget-bin/www_bget?H00085 KEGG_Gene hsa:80131 http://www.genome.jp/dbget-bin/www_bget?hsa:80131 MIM 612891 http://www.ncbi.nlm.nih.gov/omim/612891 OMA FINQLCY http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=FINQLCY OrthoDB EOG091G01ER http://cegg.unige.ch/orthodb/results?searchtext=EOG091G01ER PROSITE PS51450 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51450 PSORT swissprot:LRC8E_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:LRC8E_HUMAN PSORT-B swissprot:LRC8E_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:LRC8E_HUMAN PSORT2 swissprot:LRC8E_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:LRC8E_HUMAN Pfam PF12534 http://pfam.xfam.org/family/PF12534 Pfam PF13855 http://pfam.xfam.org/family/PF13855 PharmGKB PA142671537 http://www.pharmgkb.org/do/serve?objId=PA142671537&objCls=Gene Phobius swissprot:LRC8E_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:LRC8E_HUMAN PhylomeDB Q6NSJ5 http://phylomedb.org/?seqid=Q6NSJ5 ProteinModelPortal Q6NSJ5 http://www.proteinmodelportal.org/query/uniprot/Q6NSJ5 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15057824 http://www.ncbi.nlm.nih.gov/pubmed/15057824 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 PubMed 22532330 http://www.ncbi.nlm.nih.gov/pubmed/22532330 PubMed 24790029 http://www.ncbi.nlm.nih.gov/pubmed/24790029 PubMed 26824658 http://www.ncbi.nlm.nih.gov/pubmed/26824658 RefSeq NP_001255213 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001255213 RefSeq NP_001255214 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001255214 RefSeq NP_079337 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_079337 RefSeq XP_011526621 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011526621 SMART SM00369 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00369 STRING 9606.ENSP00000306524 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000306524&targetmode=cogs SUPFAM SSF52058 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52058 TCDB 1.A.25.3 http://www.tcdb.org/search/result.php?tc=1.A.25.3 UCSC uc002mir http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002mir&org=rat UniGene Hs.501511 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.501511 UniProtKB LRC8E_HUMAN http://www.uniprot.org/uniprot/LRC8E_HUMAN UniProtKB-AC Q6NSJ5 http://www.uniprot.org/uniprot/Q6NSJ5 charge swissprot:LRC8E_HUMAN http://rest.g-language.org/emboss/charge/swissprot:LRC8E_HUMAN eggNOG COG4886 http://eggnogapi.embl.de/nog_data/html/tree/COG4886 eggNOG KOG0619 http://eggnogapi.embl.de/nog_data/html/tree/KOG0619 epestfind swissprot:LRC8E_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:LRC8E_HUMAN garnier swissprot:LRC8E_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:LRC8E_HUMAN helixturnhelix swissprot:LRC8E_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:LRC8E_HUMAN hmoment swissprot:LRC8E_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:LRC8E_HUMAN iep swissprot:LRC8E_HUMAN http://rest.g-language.org/emboss/iep/swissprot:LRC8E_HUMAN inforesidue swissprot:LRC8E_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:LRC8E_HUMAN neXtProt NX_Q6NSJ5 http://www.nextprot.org/db/entry/NX_Q6NSJ5 octanol swissprot:LRC8E_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:LRC8E_HUMAN pepcoil swissprot:LRC8E_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:LRC8E_HUMAN pepdigest swissprot:LRC8E_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:LRC8E_HUMAN pepinfo swissprot:LRC8E_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:LRC8E_HUMAN pepnet swissprot:LRC8E_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:LRC8E_HUMAN pepstats swissprot:LRC8E_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:LRC8E_HUMAN pepwheel swissprot:LRC8E_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:LRC8E_HUMAN pepwindow swissprot:LRC8E_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:LRC8E_HUMAN sigcleave swissprot:LRC8E_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:LRC8E_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS NPT2A_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q06495-1; Sequence=Displayed; Name=2; IsoId=Q06495-2; Sequence=VSP_042311; # AltName NPT2A_HUMAN Na(+)-dependent phosphate cotransporter 2A # AltName NPT2A_HUMAN NaPi-3 # AltName NPT2A_HUMAN Sodium/phosphate cotransporter 2A # AltName NPT2A_HUMAN Solute carrier family 34 member 1 # CCDS CCDS4418 -. [Q06495-1] # CCDS CCDS54953 -. [Q06495-2] # DISEASE NPT2A_HUMAN Fanconi renotubular syndrome 2 (FRTS2) [MIM 613388] A disease due to a generalized dysfunction of the proximal kidney tubule resulting in decreased solute and water reabsorption. Patients have polydipsia and polyuria with phosphaturia, glycosuria and aminoaciduria. They may develop hypophosphatemic rickets or osteomalacia, acidosis and a tendency toward dehydration. Some eventually develop renal insufficiency. {ECO 0000269|PubMed 20335586}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE NPT2A_HUMAN Nephrolithiasis/osteoporosis, hypophosphatemic, 1 (NPHLOP1) [MIM 612286] A disease characterized by decreased renal phosphate absorption, renal phosphate wasting, hypophosphatemia, hyperphosphaturia, hypercalciuria, nephrolithiasis and osteoporosis. {ECO 0000269|PubMed 12324554}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000324417 ENSP00000321424; ENSG00000131183. [Q06495-1] # Ensembl ENST00000512593 ENSP00000423022; ENSG00000131183. [Q06495-2] # ExpressionAtlas Q06495 baseline and differential # FUNCTION NPT2A_HUMAN May be involved in actively transporting phosphate into cells via Na(+) cotransport in the renal brush border membrane. Probably mediates 70-80% of the apical influx. # GO_component GO:0005737 cytoplasm; IBA:GO_Central. # GO_component GO:0005768 endosome; IEA:Ensembl. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; NAS:UniProtKB. # GO_component GO:0005903 brush border; IBA:GO_Central. # GO_component GO:0009986 cell surface; IEA:Ensembl. # GO_component GO:0016324 apical plasma membrane; IBA:GO_Central. # GO_component GO:0031526 brush border membrane; ISS:UniProtKB. # GO_component GO:0031982 vesicle; IBA:GO_Central. # GO_component GO:0045121 membrane raft; IEA:Ensembl. # GO_component GO:0048471 perinuclear region of cytoplasm; IEA:Ensembl. # GO_function GO:0005315 inorganic phosphate transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015321 sodium-dependent phosphate transmembrane transporter activity; IDA:UniProtKB. # GO_function NPT2A_HUMAN GO 0005436 sodium phosphate symporter activity; IBA GO_Central. # GO_process GO:0001503 ossification; IEA:Ensembl. # GO_process GO:0001822 kidney development; IEA:Ensembl. # GO_process GO:0006817 phosphate ion transport; IDA:UniProtKB. # GO_process GO:0009100 glycoprotein metabolic process; IEA:Ensembl. # GO_process GO:0010288 response to lead ion; IDA:UniProtKB. # GO_process GO:0030643 cellular phosphate ion homeostasis; IBA:GO_Central. # GO_process GO:0032026 response to magnesium ion; IEA:Ensembl. # GO_process GO:0032355 response to estradiol; IEA:Ensembl. # GO_process GO:0033189 response to vitamin A; IEA:Ensembl. # GO_process GO:0035864 response to potassium ion; IEA:Ensembl. # GO_process GO:0042431 indole metabolic process; IEA:Ensembl. # GO_process GO:0042493 response to drug; IEA:Ensembl. # GO_process GO:0044267 cellular protein metabolic process; TAS:Reactome. # GO_process GO:0045838 positive regulation of membrane potential; IEA:Ensembl. # GO_process GO:0046686 response to cadmium ion; IDA:UniProtKB. # GO_process GO:0046689 response to mercury ion; IDA:UniProtKB. # GO_process GO:0051260 protein homooligomerization; IEA:Ensembl. # GO_process GO:0055062 phosphate ion homeostasis; IDA:UniProtKB. # GO_process GO:0060416 response to growth hormone; IEA:Ensembl. # GO_process GO:0071248 cellular response to metal ion; IEA:Ensembl. # GO_process GO:0071374 cellular response to parathyroid hormone stimulus; IEA:Ensembl. # GO_process GO:0072350 tricarboxylic acid metabolic process; IEA:Ensembl. # GO_process GO:0072734 cellular response to staurosporine; IEA:Ensembl. # GO_process GO:0097066 response to thyroid hormone; IEA:Ensembl. # GO_process GO:0097187 dentinogenesis; IEA:Ensembl. # GO_process GO:1901128 gentamycin metabolic process; IEA:Ensembl. # GO_process GO:1901684 arsenate ion transmembrane transport; IEA:Ensembl. # GO_process GO:2000120 positive regulation of sodium-dependent phosphate transport; IEA:Ensembl. # GO_process GO:2000187 positive regulation of phosphate transmembrane transport; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005768 endosome # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0044281 small molecule metabolic process # GOslim_process GO:0048646 anatomical structure formation involved in morphogenesis # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0055085 transmembrane transport # Genevisible Q06495 HS # HGNC HGNC:11019 SLC34A1 # InterPro IPR003841 Na/Pi_transpt # InterPro IPR029848 Na/Pi_transpt_2A # KEGG_Brite ko02001 Solute carrier family # KEGG_Disease H00888 [Kidney disease; Skeletal dysplasia] Nephrolithiasis/osteoporosis, hypophosphatemic # KEGG_Disease H01198 [Inherited metabolic disease; Kidney disease] Fanconi renotubular syndrome (FTS) # MIM 182309 gene # MIM 612286 phenotype # MIM 613388 phenotype # Organism NPT2A_HUMAN Homo sapiens (Human) # Orphanet 244305 Dominant hypophosphatemia with nephrolithiasis or osteoporosis # Orphanet 3337 Primary Fanconi syndrome # PANTHER PTHR10010:SF21 PTHR10010:SF21 # PIR B48189 B48189 # Pfam PF02690 Na_Pi_cotrans; 2 # Proteomes UP000005640 Chromosome 5 # Reactome R-HSA-427589 Type II Na+/Pi cotransporters # Reactome R-HSA-5683826 Surfactant metabolism # RecName NPT2A_HUMAN Sodium-dependent phosphate transport protein 2A # RefSeq NP_001161051 NM_001167579.1. [Q06495-2] # RefSeq NP_003043 NM_003052.4. [Q06495-1] # SIMILARITY Belongs to the SLC34A transporter family. {ECO 0000305}. # SUBCELLULAR LOCATION NPT2A_HUMAN Membrane; Multi-pass membrane protein. # SUBUNIT Interacts via its C-terminal region with PDZK2 (By similarity). Interacts with SLC9A3R1. {ECO:0000250, ECO 0000269|PubMed:22506049}. # TCDB 2.A.58.1:the phosphate na(+) symporter (pnas) family # TIGRFAMs TIGR01013 2a58 # TISSUE SPECIFICITY NPT2A_HUMAN Kidney and lung. # UCSC uc003mgk human. [Q06495-1] # eggNOG COG1283 LUCA # eggNOG ENOG410IE8P Eukaryota BLAST swissprot:NPT2A_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:NPT2A_HUMAN BioCyc ZFISH:ENSG00000131183-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000131183-MONOMER COG COG1283 http://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=COG1283 COXPRESdb 6569 http://coxpresdb.jp/data/gene/6569.shtml CleanEx HS_SLC17A2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC17A2 CleanEx HS_SLC34A1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC34A1 DOI 10.1038/nature02919 http://dx.doi.org/10.1038/nature02919 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1056/NEJMoa020028 http://dx.doi.org/10.1056/NEJMoa020028 DOI 10.1056/NEJMoa0905647 http://dx.doi.org/10.1056/NEJMoa0905647 DOI 10.1073/pnas.90.13.5979 http://dx.doi.org/10.1073/pnas.90.13.5979 DOI 10.1371/journal.pone.0034764 http://dx.doi.org/10.1371/journal.pone.0034764 EMBL AC145098 http://www.ebi.ac.uk/ena/data/view/AC145098 EMBL AK298299 http://www.ebi.ac.uk/ena/data/view/AK298299 EMBL L13258 http://www.ebi.ac.uk/ena/data/view/L13258 Ensembl ENST00000324417 http://www.ensembl.org/id/ENST00000324417 Ensembl ENST00000512593 http://www.ensembl.org/id/ENST00000512593 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0005903 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005903 GO_component GO:0009986 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009986 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:0031526 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031526 GO_component GO:0031982 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031982 GO_component GO:0045121 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045121 GO_component GO:0048471 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048471 GO_function GO:0005315 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005315 GO_function GO:0005436 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005436 GO_function GO:0015321 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015321 GO_process GO:0001503 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001503 GO_process GO:0001822 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001822 GO_process GO:0006817 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006817 GO_process GO:0009100 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009100 GO_process GO:0010288 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010288 GO_process GO:0030643 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030643 GO_process GO:0032026 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032026 GO_process GO:0032355 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032355 GO_process GO:0033189 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033189 GO_process GO:0035864 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035864 GO_process GO:0042431 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042431 GO_process GO:0042493 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042493 GO_process GO:0044267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044267 GO_process GO:0045838 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045838 GO_process GO:0046686 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046686 GO_process GO:0046689 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046689 GO_process GO:0051260 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051260 GO_process GO:0055062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055062 GO_process GO:0060416 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060416 GO_process GO:0071248 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071248 GO_process GO:0071374 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071374 GO_process GO:0072350 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0072350 GO_process GO:0072734 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0072734 GO_process GO:0097066 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097066 GO_process GO:0097187 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097187 GO_process GO:1901128 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1901128 GO_process GO:1901684 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1901684 GO_process GO:2000120 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000120 GO_process GO:2000187 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000187 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GOslim_process GO:0048646 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048646 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC34A1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC34A1 GeneID 6569 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6569 GeneTree ENSGT00390000005032 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000005032 HGNC HGNC:11019 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11019 HOGENOM HOG000006550 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000006550&db=HOGENOM6 HOVERGEN HBG079110 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG079110&db=HOVERGEN HPA HPA051255 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA051255 InParanoid Q06495 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q06495 InterPro IPR003841 http://www.ebi.ac.uk/interpro/entry/IPR003841 InterPro IPR029848 http://www.ebi.ac.uk/interpro/entry/IPR029848 Jabion 6569 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6569 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Disease H00888 http://www.genome.jp/dbget-bin/www_bget?H00888 KEGG_Disease H01198 http://www.genome.jp/dbget-bin/www_bget?H01198 KEGG_Gene hsa:6569 http://www.genome.jp/dbget-bin/www_bget?hsa:6569 KEGG_Orthology KO:K14683 http://www.genome.jp/dbget-bin/www_bget?KO:K14683 MIM 182309 http://www.ncbi.nlm.nih.gov/omim/182309 MIM 612286 http://www.ncbi.nlm.nih.gov/omim/612286 MIM 613388 http://www.ncbi.nlm.nih.gov/omim/613388 OMA CPYGEVL http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=CPYGEVL Orphanet 244305 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=244305 Orphanet 3337 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=3337 OrthoDB EOG091G0DR5 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0DR5 PANTHER PTHR10010:SF21 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10010:SF21 PSORT swissprot:NPT2A_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:NPT2A_HUMAN PSORT-B swissprot:NPT2A_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:NPT2A_HUMAN PSORT2 swissprot:NPT2A_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:NPT2A_HUMAN Pfam PF02690 http://pfam.xfam.org/family/PF02690 PharmGKB PA35887 http://www.pharmgkb.org/do/serve?objId=PA35887&objCls=Gene Phobius swissprot:NPT2A_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:NPT2A_HUMAN PhylomeDB Q06495 http://phylomedb.org/?seqid=Q06495 ProteinModelPortal Q06495 http://www.proteinmodelportal.org/query/uniprot/Q06495 PubMed 12324554 http://www.ncbi.nlm.nih.gov/pubmed/12324554 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15372022 http://www.ncbi.nlm.nih.gov/pubmed/15372022 PubMed 20335586 http://www.ncbi.nlm.nih.gov/pubmed/20335586 PubMed 22506049 http://www.ncbi.nlm.nih.gov/pubmed/22506049 PubMed 8327470 http://www.ncbi.nlm.nih.gov/pubmed/8327470 Reactome R-HSA-427589 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-427589 Reactome R-HSA-5683826 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5683826 RefSeq NP_001161051 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001161051 RefSeq NP_003043 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_003043 STRING 9606.ENSP00000321424 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000321424&targetmode=cogs STRING COG1283 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=COG1283&targetmode=cogs TCDB 2.A.58.1 http://www.tcdb.org/search/result.php?tc=2.A.58.1 TIGRFAMs TIGR01013 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01013 UCSC uc003mgk http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003mgk&org=rat UniGene Hs.936 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.936 UniProtKB NPT2A_HUMAN http://www.uniprot.org/uniprot/NPT2A_HUMAN UniProtKB-AC Q06495 http://www.uniprot.org/uniprot/Q06495 charge swissprot:NPT2A_HUMAN http://rest.g-language.org/emboss/charge/swissprot:NPT2A_HUMAN eggNOG COG1283 http://eggnogapi.embl.de/nog_data/html/tree/COG1283 eggNOG ENOG410IE8P http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IE8P epestfind swissprot:NPT2A_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:NPT2A_HUMAN garnier swissprot:NPT2A_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:NPT2A_HUMAN helixturnhelix swissprot:NPT2A_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:NPT2A_HUMAN hmoment swissprot:NPT2A_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:NPT2A_HUMAN iep swissprot:NPT2A_HUMAN http://rest.g-language.org/emboss/iep/swissprot:NPT2A_HUMAN inforesidue swissprot:NPT2A_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:NPT2A_HUMAN neXtProt NX_Q06495 http://www.nextprot.org/db/entry/NX_Q06495 octanol swissprot:NPT2A_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:NPT2A_HUMAN pepcoil swissprot:NPT2A_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:NPT2A_HUMAN pepdigest swissprot:NPT2A_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:NPT2A_HUMAN pepinfo swissprot:NPT2A_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:NPT2A_HUMAN pepnet swissprot:NPT2A_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:NPT2A_HUMAN pepstats swissprot:NPT2A_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:NPT2A_HUMAN pepwheel swissprot:NPT2A_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:NPT2A_HUMAN pepwindow swissprot:NPT2A_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:NPT2A_HUMAN sigcleave swissprot:NPT2A_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:NPT2A_HUMAN ## Database ID URL or Descriptions # AltName RAP1A_HUMAN C21KG # AltName RAP1A_HUMAN G-22K # AltName RAP1A_HUMAN GTP-binding protein smg p21A # AltName RAP1A_HUMAN Ras-related protein Krev-1 # BioGrid 111841 71 # ChiTaRS RAP1A human # ENZYME REGULATION RAP1A_HUMAN Activated by guanine nucleotide-exchange factors (GEF) EPAC and EPAC2 in a cAMP-dependent manner, and GFR. # Ensembl ENST00000356415 ENSP00000348786; ENSG00000116473 # Ensembl ENST00000369709 ENSP00000358723; ENSG00000116473 # ExpressionAtlas P62834 baseline and differential # FUNCTION RAP1A_HUMAN Induces morphological reversion of a cell line transformed by a Ras oncogene. Counteracts the mitogenic function of Ras, at least partly because it can interact with Ras GAPs and RAF in a competitive manner. Together with ITGB1BP1, regulates KRIT1 localization to microtubules and membranes. Plays a role in nerve growth factor (NGF)-induced neurite outgrowth. Plays a role in the regulation of embryonic blood vessel formation. Involved in the establishment of basal endothelial barrier function. May be involved in the regulation of the vascular endothelial growth factor receptor KDR expression at endothelial cell-cell junctions. {ECO 0000269|PubMed 17916086, ECO 0000269|PubMed 21840392}. # GO_component GO:0005737 cytoplasm; IDA:UniProtKB. # GO_component GO:0005769 early endosome; ISS:UniProtKB. # GO_component GO:0005770 late endosome; ISS:UniProtKB. # GO_component GO:0005829 cytosol; TAS:Reactome. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0030054 cell junction; ISS:UniProtKB. # GO_component GO:0032045 guanyl-nucleotide exchange factor complex; IEA:Ensembl. # GO_component GO:0043005 neuron projection; IEA:Ensembl. # GO_component GO:0043209 myelin sheath; IEA:Ensembl. # GO_component GO:0048471 perinuclear region of cytoplasm; IDA:UniProtKB. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0003924 GTPase activity; TAS:ProtInc. # GO_function GO:0005525 GTP binding; IEA:UniProtKB-KW. # GO_function GO:0008565 protein transporter activity; IDA:UniProtKB. # GO_function GO:0017034 Rap guanyl-nucleotide exchange factor activity; ISS:UniProtKB. # GO_function GO:0032403 protein complex binding; IDA:UniProtKB. # GO_process GO:0000186 activation of MAPKK activity; TAS:Reactome. # GO_process GO:0007165 signal transduction; TAS:ProtInc. # GO_process GO:0010976 positive regulation of neuron projection development; ISS:UniProtKB. # GO_process GO:0015031 protein transport; IDA:UniProtKB. # GO_process GO:0032486 Rap protein signal transduction; IMP:UniProtKB. # GO_process GO:0032966 negative regulation of collagen biosynthetic process; IEA:Ensembl. # GO_process GO:0035690 cellular response to drug; IEA:Ensembl. # GO_process GO:0038180 nerve growth factor signaling pathway; ISS:UniProtKB. # GO_process GO:0043547 positive regulation of GTPase activity; ISS:UniProtKB. # GO_process GO:0045860 positive regulation of protein kinase activity; ISS:UniProtKB. # GO_process GO:0046326 positive regulation of glucose import; IEA:Ensembl. # GO_process GO:0050766 positive regulation of phagocytosis; IEA:Ensembl. # GO_process GO:0050796 regulation of insulin secretion; TAS:Reactome. # GO_process GO:0061028 establishment of endothelial barrier; IMP:UniProtKB. # GO_process GO:0070374 positive regulation of ERK1 and ERK2 cascade; ISS:UniProtKB. # GO_process GO:0071320 cellular response to cAMP; IDA:UniProtKB. # GO_process GO:0071333 cellular response to glucose stimulus; IEA:Ensembl. # GO_process GO:0097327 response to antineoplastic agent; IEA:Ensembl. # GO_process GO:0097421 liver regeneration; IEA:Ensembl. # GO_process GO:1901888 regulation of cell junction assembly; IMP:UniProtKB. # GO_process GO:1990090 cellular response to nerve growth factor stimulus; ISS:UniProtKB. # GO_process GO:2000301 negative regulation of synaptic vesicle exocytosis; IEA:Ensembl. # GO_process GO:2001214 positive regulation of vasculogenesis; ISS:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005768 endosome # GOslim_component GO:0005829 cytosol # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0003924 GTPase activity # GOslim_function GO:0008565 protein transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0048856 anatomical structure development # Gene3D 3.40.50.300 -; 1. # Genevisible P62834 HS # HGNC HGNC:9855 RAP1A # INTERACTION RAP1A_HUMAN P04049 RAF1; NbExp=2; IntAct=EBI-491414, EBI-365996; Q8WWW0-2 RASSF5; NbExp=3; IntAct=EBI-491414, EBI-960502; Q5EBH1 Rassf5 (xeno); NbExp=2; IntAct=EBI-491414, EBI-960530; # IntAct P62834 23 # InterPro IPR001806 Small_GTPase # InterPro IPR005225 Small_GTP-bd_dom # InterPro IPR020849 Small_GTPase_Ras # InterPro IPR027417 P-loop_NTPase # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04031 GTP-binding proteins # KEGG_Pathway ko04010 MAPK signaling pathway # KEGG_Pathway ko04062 Chemokine signaling pathway # KEGG_Pathway ko04510 Focal adhesion # KEGG_Pathway ko04670 Leukocyte transendothelial migration # KEGG_Pathway ko04720 Long-term potentiation # KEGG_Pathway ko04722 Neurotrophin signaling pathway # KEGG_Pathway ko04972 Pancreatic secretion # KEGG_Pathway ko05211 Renal cell carcinoma # MIM 179520 gene # Organism RAP1A_HUMAN Homo sapiens (Human) # PANTHER PTHR24070 PTHR24070 # PDB 1C1Y X-ray; 1.90 A; A=1-167 # PDB 1GUA X-ray; 2.00 A; A=1-167 # PDB 3KUC X-ray; 1.92 A; A=1-167 # PDB 4KVG X-ray; 1.65 A; A/C=1-167 # PIR A32342 A32342 # PROSITE PS51421 RAS # Pfam PF00071 Ras # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-170968 Frs2-mediated activation # Reactome R-HSA-170984 ARMS-mediated activation # Reactome R-HSA-354192 Integrin alphaIIb beta3 signaling # Reactome R-HSA-354194:GRB2 SOS provides linkage to MAPK signaling for Integrins # Reactome R-HSA-372708 p130Cas linkage to MAPK signaling for integrins # Reactome R-HSA-381676 Glucagon-like Peptide-1 (GLP1) regulates insulin secretion # Reactome R-HSA-392517 Rap1 signalling # Reactome R-HSA-5674135 MAP2K and MAPK activation # Reactome R-HSA-6798695 Neutrophil degranulation # Reactome R-HSA-6802946 Signaling by moderate kinase activity BRAF mutants # Reactome R-HSA-6802948 Signaling by high-kinase activity BRAF mutants # Reactome R-HSA-6802949 Signaling by RAS mutants # Reactome R-HSA-6802952 Signaling by BRAF and RAF fusions # Reactome R-HSA-6802955 Paradoxical activation of RAF signaling by kinase inactive BRAF # Reactome R-HSA-8875555 MET activates RAP1 and RAC1 # RecName RAP1A_HUMAN Ras-related protein Rap-1A # RefSeq NP_001010935 NM_001010935.2 # RefSeq NP_001278825 NM_001291896.1 # RefSeq NP_002875 NM_002884.3 # RefSeq XP_016857451 XM_017001962.1 # RefSeq XP_016857452 XM_017001963.1 # RefSeq XP_016857453 XM_017001964.1 # SEQUENCE CAUTION Sequence=CAB55685.2; Type=Erroneous gene model prediction; Evidence={ECO 0000305}; # SIMILARITY Belongs to the small GTPase superfamily. Ras family. {ECO 0000305}. # SUBCELLULAR LOCATION RAP1A_HUMAN Cell membrane {ECO 0000269|PubMed 11359771}; Lipid-anchor {ECO 0000269|PubMed 11359771}. Cytoplasm {ECO 0000269|PubMed 11359771}. Cytoplasm, perinuclear region {ECO 0000269|PubMed 11359771}. Cell junction {ECO 0000250}. Early endosome {ECO 0000250}. Note=Recruited from early endosome to late endosome compartment after nerve growth factor (NGF) stimulation. Localized with RAPGEF2 at cell-cell junctions (By similarity). Colocalized with RAPGEF2 in the perinuclear region. {ECO 0000250}. # SUBUNIT RAP1A_HUMAN Found in a complex, at least composed of ITGB1BP1, KRIT1 and RAP1A. Interacts (active GTP-bound form preferentially) with KRIT1 (via C-terminus FERM domain); the interaction does not induce the opening conformation of KRIT1. In its GTP-bound form interacts with PLCE1 and RADIL. Interacts with SGSM1, SGSM2 and SGSM3. Interacts (via GTP-bound active form) with RAPGEF2 (via Ras-associating domain). {ECO 0000269|PubMed 10608844, ECO 0000269|PubMed 11022048, ECO 0000269|PubMed 11359771, ECO 0000269|PubMed 12444546, ECO 0000269|PubMed 17509819, ECO 0000269|PubMed 17704304, ECO 0000269|PubMed 17916086}. # SUPFAM SSF52540 SSF52540 # TIGRFAMs TIGR00231 small_GTP # UCSC uc001ebi human # WEB RESOURCE RAP1A_HUMAN Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http //atlasgeneticsoncology.org/Genes/RAP1AID272.html"; # eggNOG COG1100 LUCA # eggNOG KOG0395 Eukaryota BLAST swissprot:RAP1A_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:RAP1A_HUMAN BioCyc ZFISH:ENSG00000116473-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000116473-MONOMER COXPRESdb 5906 http://coxpresdb.jp/data/gene/5906.shtml CleanEx HS_RAP1A http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_RAP1A DIP DIP-29106N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-29106N DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1016/S0006-291X(88)80302-4 http://dx.doi.org/10.1016/S0006-291X(88)80302-4 DOI 10.1016/j.cellsig.2011.07.022 http://dx.doi.org/10.1016/j.cellsig.2011.07.022 DOI 10.1016/j.ygeno.2007.03.013 http://dx.doi.org/10.1016/j.ygeno.2007.03.013 DOI 10.1038/375554a0 http://dx.doi.org/10.1038/375554a0 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1038/nsb0896-723 http://dx.doi.org/10.1038/nsb0896-723 DOI 10.1038/sj.onc.1206003 http://dx.doi.org/10.1038/sj.onc.1206003 DOI 10.1074/jbc.274.53.37815 http://dx.doi.org/10.1074/jbc.274.53.37815 DOI 10.1074/jbc.M008324200 http://dx.doi.org/10.1074/jbc.M008324200 DOI 10.1074/jbc.M101737200 http://dx.doi.org/10.1074/jbc.M101737200 DOI 10.1101/gad.1561507 http://dx.doi.org/10.1101/gad.1561507 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1742-4658.2007.06068.x http://dx.doi.org/10.1111/j.1742-4658.2007.06068.x DOI 10.1128/MCB.11.3.1523 http://dx.doi.org/10.1128/MCB.11.3.1523 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AF493912 http://www.ebi.ac.uk/ena/data/view/AF493912 EMBL AL049557 http://www.ebi.ac.uk/ena/data/view/AL049557 EMBL BC014086 http://www.ebi.ac.uk/ena/data/view/BC014086 EMBL M22995 http://www.ebi.ac.uk/ena/data/view/M22995 EMBL X12533 http://www.ebi.ac.uk/ena/data/view/X12533 Ensembl ENST00000356415 http://www.ensembl.org/id/ENST00000356415 Ensembl ENST00000369709 http://www.ensembl.org/id/ENST00000369709 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005769 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005769 GO_component GO:0005770 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005770 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0032045 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032045 GO_component GO:0043005 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043005 GO_component GO:0043209 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043209 GO_component GO:0048471 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048471 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0003924 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003924 GO_function GO:0005525 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005525 GO_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GO_function GO:0017034 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0017034 GO_function GO:0032403 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032403 GO_process GO:0000186 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000186 GO_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GO_process GO:0010976 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010976 GO_process GO:0015031 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015031 GO_process GO:0032486 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032486 GO_process GO:0032966 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032966 GO_process GO:0035690 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035690 GO_process GO:0038180 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0038180 GO_process GO:0043547 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043547 GO_process GO:0045860 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045860 GO_process GO:0046326 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046326 GO_process GO:0050766 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050766 GO_process GO:0050796 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050796 GO_process GO:0061028 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061028 GO_process GO:0070374 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070374 GO_process GO:0071320 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071320 GO_process GO:0071333 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071333 GO_process GO:0097327 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097327 GO_process GO:0097421 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097421 GO_process GO:1901888 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1901888 GO_process GO:1990090 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1990090 GO_process GO:2000301 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000301 GO_process GO:2001214 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2001214 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0003924 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003924 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 Gene3D 3.40.50.300 http://www.cathdb.info/version/latest/superfamily/3.40.50.300 GeneCards RAP1A http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=RAP1A GeneID 5906 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=5906 GeneTree ENSGT00860000133678 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00860000133678 HGNC HGNC:9855 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:9855 HOGENOM HOG000233973 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000233973&db=HOGENOM6 HOVERGEN HBG009351 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG009351&db=HOVERGEN HPA CAB018335 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB018335 InParanoid P62834 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P62834 IntAct P62834 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P62834* InterPro IPR001806 http://www.ebi.ac.uk/interpro/entry/IPR001806 InterPro IPR005225 http://www.ebi.ac.uk/interpro/entry/IPR005225 InterPro IPR020849 http://www.ebi.ac.uk/interpro/entry/IPR020849 InterPro IPR027417 http://www.ebi.ac.uk/interpro/entry/IPR027417 Jabion 5906 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=5906 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04031 http://www.genome.jp/dbget-bin/www_bget?ko04031 KEGG_Gene hsa:5906 http://www.genome.jp/dbget-bin/www_bget?hsa:5906 KEGG_Orthology KO:K04353 http://www.genome.jp/dbget-bin/www_bget?KO:K04353 KEGG_Pathway ko04010 http://www.genome.jp/kegg-bin/show_pathway?ko04010 KEGG_Pathway ko04062 http://www.genome.jp/kegg-bin/show_pathway?ko04062 KEGG_Pathway ko04510 http://www.genome.jp/kegg-bin/show_pathway?ko04510 KEGG_Pathway ko04670 http://www.genome.jp/kegg-bin/show_pathway?ko04670 KEGG_Pathway ko04720 http://www.genome.jp/kegg-bin/show_pathway?ko04720 KEGG_Pathway ko04722 http://www.genome.jp/kegg-bin/show_pathway?ko04722 KEGG_Pathway ko04972 http://www.genome.jp/kegg-bin/show_pathway?ko04972 KEGG_Pathway ko05211 http://www.genome.jp/kegg-bin/show_pathway?ko05211 MIM 179520 http://www.ncbi.nlm.nih.gov/omim/179520 MINT MINT-1509313 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1509313 OMA ARSFNSA http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=ARSFNSA OrthoDB EOG091G0OOG http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0OOG PANTHER PTHR24070 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24070 PDB 1C1Y http://www.ebi.ac.uk/pdbe-srv/view/entry/1C1Y PDB 1GUA http://www.ebi.ac.uk/pdbe-srv/view/entry/1GUA PDB 3KUC http://www.ebi.ac.uk/pdbe-srv/view/entry/3KUC PDB 4KVG http://www.ebi.ac.uk/pdbe-srv/view/entry/4KVG PDBsum 1C1Y http://www.ebi.ac.uk/pdbsum/1C1Y PDBsum 1GUA http://www.ebi.ac.uk/pdbsum/1GUA PDBsum 3KUC http://www.ebi.ac.uk/pdbsum/3KUC PDBsum 4KVG http://www.ebi.ac.uk/pdbsum/4KVG PROSITE PS51421 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51421 PSORT swissprot:RAP1A_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:RAP1A_HUMAN PSORT-B swissprot:RAP1A_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:RAP1A_HUMAN PSORT2 swissprot:RAP1A_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:RAP1A_HUMAN Pfam PF00071 http://pfam.xfam.org/family/PF00071 PharmGKB PA34217 http://www.pharmgkb.org/do/serve?objId=PA34217&objCls=Gene Phobius swissprot:RAP1A_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:RAP1A_HUMAN PhylomeDB P62834 http://phylomedb.org/?seqid=P62834 ProteinModelPortal P62834 http://www.proteinmodelportal.org/query/uniprot/P62834 PubMed 10608844 http://www.ncbi.nlm.nih.gov/pubmed/10608844 PubMed 11022048 http://www.ncbi.nlm.nih.gov/pubmed/11022048 PubMed 11359771 http://www.ncbi.nlm.nih.gov/pubmed/11359771 PubMed 12444546 http://www.ncbi.nlm.nih.gov/pubmed/12444546 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 17509819 http://www.ncbi.nlm.nih.gov/pubmed/17509819 PubMed 17704304 http://www.ncbi.nlm.nih.gov/pubmed/17704304 PubMed 17916086 http://www.ncbi.nlm.nih.gov/pubmed/17916086 PubMed 1899909 http://www.ncbi.nlm.nih.gov/pubmed/1899909 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 21840392 http://www.ncbi.nlm.nih.gov/pubmed/21840392 PubMed 2507536 http://www.ncbi.nlm.nih.gov/pubmed/2507536 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 3045729 http://www.ncbi.nlm.nih.gov/pubmed/3045729 PubMed 3141412 http://www.ncbi.nlm.nih.gov/pubmed/3141412 PubMed 3144274 http://www.ncbi.nlm.nih.gov/pubmed/3144274 PubMed 7791872 http://www.ncbi.nlm.nih.gov/pubmed/7791872 PubMed 8756332 http://www.ncbi.nlm.nih.gov/pubmed/8756332 Reactome R-HSA-170968 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-170968 Reactome R-HSA-170984 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-170984 Reactome R-HSA-354192 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-354192 Reactome R-HSA-354194 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-354194 Reactome R-HSA-372708 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-372708 Reactome R-HSA-381676 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-381676 Reactome R-HSA-392517 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-392517 Reactome R-HSA-5674135 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5674135 Reactome R-HSA-6798695 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6798695 Reactome R-HSA-6802946 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6802946 Reactome R-HSA-6802948 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6802948 Reactome R-HSA-6802949 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6802949 Reactome R-HSA-6802952 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6802952 Reactome R-HSA-6802955 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6802955 Reactome R-HSA-8875555 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-8875555 RefSeq NP_001010935 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001010935 RefSeq NP_001278825 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001278825 RefSeq NP_002875 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_002875 RefSeq XP_016857451 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016857451 RefSeq XP_016857452 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016857452 RefSeq XP_016857453 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016857453 SMR P62834 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P62834 STRING 9606.ENSP00000348786 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000348786&targetmode=cogs SUPFAM SSF52540 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52540 TIGRFAMs TIGR00231 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00231 UCSC uc001ebi http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001ebi&org=rat UniGene Hs.190334 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.190334 UniGene Hs.586618 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.586618 UniProtKB RAP1A_HUMAN http://www.uniprot.org/uniprot/RAP1A_HUMAN UniProtKB-AC P62834 http://www.uniprot.org/uniprot/P62834 charge swissprot:RAP1A_HUMAN http://rest.g-language.org/emboss/charge/swissprot:RAP1A_HUMAN eggNOG COG1100 http://eggnogapi.embl.de/nog_data/html/tree/COG1100 eggNOG KOG0395 http://eggnogapi.embl.de/nog_data/html/tree/KOG0395 epestfind swissprot:RAP1A_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:RAP1A_HUMAN garnier swissprot:RAP1A_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:RAP1A_HUMAN helixturnhelix swissprot:RAP1A_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:RAP1A_HUMAN hmoment swissprot:RAP1A_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:RAP1A_HUMAN iep swissprot:RAP1A_HUMAN http://rest.g-language.org/emboss/iep/swissprot:RAP1A_HUMAN inforesidue swissprot:RAP1A_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:RAP1A_HUMAN neXtProt NX_P62834 http://www.nextprot.org/db/entry/NX_P62834 octanol swissprot:RAP1A_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:RAP1A_HUMAN pepcoil swissprot:RAP1A_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:RAP1A_HUMAN pepdigest swissprot:RAP1A_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:RAP1A_HUMAN pepinfo swissprot:RAP1A_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:RAP1A_HUMAN pepnet swissprot:RAP1A_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:RAP1A_HUMAN pepstats swissprot:RAP1A_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:RAP1A_HUMAN pepwheel swissprot:RAP1A_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:RAP1A_HUMAN pepwindow swissprot:RAP1A_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:RAP1A_HUMAN sigcleave swissprot:RAP1A_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:RAP1A_HUMAN ## Database ID URL or Descriptions # AltName KCND2_HUMAN Voltage-gated potassium channel subunit Kv4.2 # BIOPHYSICOCHEMICAL PROPERTIES KCND2_HUMAN Kinetic parameters Note=Homotetrameric channels activate rapidly, i.e within a few msec. After that, they inactivate rapidly, i.e within about 50- 100 msec. The voltage-dependence of activation and inactivation and other channel characteristics vary depending on the experimental conditions, the expression system and the presence or absence of ancillary subunits. Homotetrameric channels have a unitary conductance of about 4 pS when expressed in a heterologous system. For the activation of homotetrameric channels expressed in xenopus oocytes, the voltage at half- maximal amplitude is about -10 mV. The time constant for inactivation is about 20 msec. For inactivation, the voltage at half-maximal amplitude is -62 mV. The time constant for recovery after inactivation is about 70 msec. {ECO 0000305|PubMed 11507158, ECO 0000305|PubMed 17917103}; # BioGrid 109953 18 # ChiTaRS KCND2 human # DISEASE KCND2_HUMAN Note=A KCND2 mutation leading to the production of a C- terminally truncated protein has been identified in a patient with epilepsy. Epilepsy is characterized by paroxysmal transient disturbances of the electrical activity of the brain that may be manifested as episodic impairment or loss of consciousness, abnormal motor phenomena, psychic or sensory disturbances, or perturbation of the autonomic nervous system. {ECO 0000269|PubMed 16934482}. # DISEASE KCND2_HUMAN Note=KNCD2 mutations have been found in a family with autism and epilepsy and may play a role in disease pathogenesis. Autism is a complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Epilepsy is characterized by paroxysmal transient disturbances of the electrical activity of the brain that may be manifested as episodic impairment or loss of consciousness, abnormal motor phenomena, psychic or sensory disturbances, or perturbation of the autonomic nervous system. {ECO 0000269|PubMed 24501278}. # DOMAIN KCND2_HUMAN The C-terminal cytoplasmic region is important for normal expression at the cell membrane and modulates the voltage- dependence of channel activation and inactivation (PubMed 16934482). It is required for interaction with KCNIP2, and probably other family members as well (By similarity). {ECO 0000250|UniProtKB Q63881, ECO 0000269|PubMed 16934482}. # DOMAIN KCND2_HUMAN The N-terminal cytoplasmic region can mediate N-type inactivation by physically blocking the channel (PubMed 14695263). This probably does not happen in vivo, where the N-terminal region mediates interaction with regulatory subunits, such as KCNIP1 and KCNIP2 (PubMed 15358149). The zinc binding sites in the N-terminal domain are important for tetramerization and assembly of a functional channel complex (By similarity). Most likely, the channel undergoes closed-state inactivation, where a subtle conformation change would render the protein less sensitive to activation. {ECO 0000250|UniProtKB Q63881, ECO 0000305|PubMed 11507158, ECO 0000305|PubMed 14695263, ECO 0000305|PubMed 15358149, ECO 0000305|PubMed 18357523}. # DOMAIN KCND2_HUMAN The transmembrane segment S4 functions as voltage-sensor and is characterized by a series of positively charged amino acids at every third position. Channel opening and closing is effected by a conformation change that affects the position and orientation of the voltage-sensor paddle formed by S3 and S4 within the membrane. A transmembrane electric field that is positive inside would push the positively charged S4 segment outwards, thereby opening the pore, while a field that is negative inside would pull the S4 segment inwards and close the pore. Changes in the position and orientation of S4 are then transmitted to the activation gate formed by the inner helix bundle via the S4-S5 linker region. {ECO 0000250|UniProtKB P63142}. # DrugBank DB00280 Disopyramide # DrugBank DB00321 Amitriptyline # DrugBank DB00458 Imipramine # DrugBank DB06637 Dalfampridine # Ensembl ENST00000331113 ENSP00000333496; ENSG00000184408 # ExpressionAtlas Q9NZV8 baseline and differential # FUNCTION KCND2_HUMAN Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes, primarily in the brain. Mediates the major part of the dendritic A-type current I(SA) in brain neurons (By similarity). This current is activated at membrane potentials that are below the threshold for action potentials. It regulates neuronal excitability, prolongs the latency before the first spike in a series of action potentials, regulates the frequency of repetitive action potential firing, shortens the duration of action potentials and regulates the back-propagation of action potentials from the neuronal cell body to the dendrites. Contributes to the regulation of the circadian rhythm of action potential firing in suprachiasmatic nucleus neurons, which regulates the circadian rhythm of locomotor activity (By similarity). Functions downstream of the metabotropic glutamate receptor GRM5 and plays a role in neuronal excitability and in nociception mediated by activation of GRM5 (By similarity). Mediates the transient outward current I(to) in rodent heart left ventricle apex cells, but not in human heart, where this current is mediated by another family member. Forms tetrameric potassium-selective channels through which potassium ions pass in accordance with their electrochemical gradient (PubMed 10551270, PubMed 15454437, PubMed 14695263, PubMed 14623880, PubMed 14980201, PubMed 16934482, PubMed 24811166, PubMed 24501278). The channel alternates between opened and closed conformations in response to the voltage difference across the membrane (PubMed 11507158). Can form functional homotetrameric channels and heterotetrameric channels that contain variable proportions of KCND2 and KCND3; channel properties depend on the type of pore-forming alpha subunits that are part of the channel. In vivo, membranes probably contain a mixture of heteromeric potassium channel complexes. Interaction with specific isoforms of the regulatory subunits KCNIP1, KCNIP2, KCNIP3 or KCNIP4 strongly increases expression at the cell surface and thereby increases channel activity; it modulates the kinetics of channel activation and inactivation, shifts the threshold for channel activation to more negative voltage values, shifts the threshold for inactivation to less negative voltages and accelerates recovery after inactivation (PubMed 15454437, PubMed 14623880, PubMed 14980201, PubMed 19171772, PubMed 24501278, PubMed 24811166). Likewise, interaction with DPP6 or DPP10 promotes expression at the cell membrane and regulates both channel characteristics and activity (By similarity). {ECO 0000250|UniProtKB Q63881, ECO 0000250|UniProtKB Q9Z0V2, ECO 0000269|PubMed 10551270, ECO 0000269|PubMed 10729221, ECO 0000269|PubMed 11507158, ECO 0000269|PubMed 14623880, ECO 0000269|PubMed 14695263, ECO 0000269|PubMed 14980201, ECO 0000269|PubMed 15454437, ECO 0000269|PubMed 16934482, ECO 0000269|PubMed 19171772, ECO 0000269|PubMed 24501278, ECO 0000269|PubMed 24811166}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IDA:UniProtKB. # GO_component GO:0008076 voltage-gated potassium channel complex; IDA:UniProtKB. # GO_component GO:0030054 cell junction; IEA:UniProtKB-SubCell. # GO_component GO:0031226 intrinsic component of plasma membrane; IMP:UniProtKB. # GO_component GO:0032809 neuronal cell body membrane; ISS:UniProtKB. # GO_component GO:0043197 dendritic spine; ISS:UniProtKB. # GO_component GO:0043204 perikaryon; IEA:UniProtKB-SubCell. # GO_component GO:0044853 plasma membrane raft; ISS:UniProtKB. # GO_component GO:0045211 postsynaptic membrane; ISS:UniProtKB. # GO_function GO:0005249 voltage-gated potassium channel activity; IDA:UniProtKB. # GO_function GO:0005250 A-type (transient outward) potassium channel activity; IMP:UniProtKB. # GO_function GO:0046872 metal ion binding; IEA:UniProtKB-KW. # GO_process GO:0001508 action potential; TAS:UniProtKB. # GO_process GO:0007268 chemical synaptic transmission; TAS:UniProtKB. # GO_process GO:0019228 neuronal action potential; IEA:Ensembl. # GO_process GO:0019233 sensory perception of pain; IEA:Ensembl. # GO_process GO:0045475 locomotor rhythm; IEA:Ensembl. # GO_process GO:0051260 protein homooligomerization; IEA:InterPro. # GO_process GO:0061337 cardiac conduction; TAS:Reactome. # GO_process GO:0071456 cellular response to hypoxia; ISS:UniProtKB. # GO_process GO:0071805 potassium ion transmembrane transport; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # GOslim_process GO:0050877 neurological system process # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.20.120.350 -; 1. # Genevisible Q9NZV8 HS # HGNC HGNC:6238 KCND2 # INTERACTION KCND2_HUMAN Q9NZI2 KCNIP1; NbExp=4; IntAct=EBI-1646745, EBI-2120635; Q9NS61 KCNIP2; NbExp=3; IntAct=EBI-1646745, EBI-1052975; Q9NS61-3 KCNIP2; NbExp=3; IntAct=EBI-1646745, EBI-1053010; # IntAct Q9NZV8 2 # InterPro IPR000210 BTB/POZ_dom # InterPro IPR003131 T1-type_BTB # InterPro IPR003968 K_chnl_volt-dep_Kv # InterPro IPR003975 K_chnl_volt-dep_Kv4 # InterPro IPR004055 K_chnl_volt-dep_Kv4.2 # InterPro IPR005821 Ion_trans_dom # InterPro IPR011333 SKP1/BTB/POZ # InterPro IPR021645 Shal-type_N # InterPro IPR024587 K_chnl_volt-dep_Kv4_C # InterPro IPR027359 Channel_four-helix_dom # InterPro IPR028325 VG_K_chnl # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04726 Serotonergic synapse # MIM 605410 gene # MISCELLANEOUS Is specifically and reversibly inhibited by the scorpion toxin Ts8 (AC P69940). {ECO:0000250|UniProtKB Q63881}. # MISCELLANEOUS KCND2_HUMAN The transient neuronal A-type potassium current called I(SA) is triggered at membrane potentials that are below the threshold for action potentials. It inactivates rapidly and recovers rapidly from inactivation. It regulates the firing of action potentials and plays a role in synaptic integration and plasticity. Potassium channels containing KCND2 account for about 80% of the neuronal A-type potassium current. In contrast, the potassium channel responsible for the cardiac I(to) current differs between species; it is mediated by KCND2 in rodents. In human and other non-rodents KCND3 may play an equivalent role. {ECO 0000269|PubMed 10551270, ECO 0000305|PubMed 17917103, ECO 0000305|PubMed 18357523}. # Organism KCND2_HUMAN Homo sapiens (Human) # PANTHER PTHR11537 PTHR11537 # PRINTS PR00169 KCHANNEL # PRINTS PR01491 KVCHANNEL # PRINTS PR01497 SHALCHANNEL # PRINTS PR01517 KV42CHANNEL # PTM KCND2_HUMAN Phosphorylation at Ser-438 in response to MAPK activation is increased in stimulated dendrites. Interaction with KCNIP2 and DPP6 propomtes phosphorylation by PKA at Ser-552. Phosphorylation at Ser-552 has no effect on interaction with KCNIP3, but is required for the regulation of channel activity by KCNIP3. Phosphorylation at Ser-552 leads to KCND2 internalization (By similarity). Phosphorylated by MAPK in response to signaling via the metabotropic glutamate receptor GRM5 (By similarity). Phosphorylation at Ser-616 is required for the down-regulation of neuronal A-type currents in response to signaling via GRM5 (By similarity). {ECO 0000250|UniProtKB Q63881, ECO 0000250|UniProtKB Q9Z0V2}. # Pfam PF00520 Ion_trans # Pfam PF02214 BTB_2 # Pfam PF11601 Shal-type # Pfam PF11879 DUF3399 # Proteomes UP000005640 Chromosome 7 # Reactome R-HSA-1296072 Voltage gated Potassium channels # Reactome R-HSA-5576894 Phase 1 - inactivation of fast Na+ channels # RecName KCND2_HUMAN Potassium voltage-gated channel subfamily D member 2 # RefSeq NP_036413 NM_012281.2 # SEQUENCE CAUTION Sequence=BAA82996.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the potassium channel family. D (Shal) (TC 1.A.1.2) subfamily. Kv4.2/KCND2 sub-subfamily. {ECO 0000305}. # SMART SM00225 BTB # SUBCELLULAR LOCATION KCND2_HUMAN Cell membrane {ECO 0000269|PubMed 11102480, ECO 0000269|PubMed 11507158, ECO 0000269|PubMed 14623880, ECO 0000269|PubMed 14695263, ECO 0000269|PubMed 14980201, ECO 0000269|PubMed 15454437, ECO 0000269|PubMed 16934482, ECO 0000269|PubMed 19171772, ECO 0000269|PubMed 24501278, ECO 0000269|PubMed 24811166}; Multi-pass membrane protein {ECO 0000269|PubMed 11102480, ECO 0000269|PubMed 14980201, ECO 0000305}. Cell projection, dendrite {ECO 0000269|PubMed 11102480}. Cell junction, synapse {ECO 0000250|UniProtKB Q63881}. Perikaryon {ECO 0000250|UniProtKB Q63881}. Cell junction, synapse, postsynaptic cell membrane {ECO 0000250|UniProtKB Q63881}. Cell projection, dendritic spine {ECO 0000250|UniProtKB Q63881}. Cell junction {ECO 0000250|UniProtKB Q63881}. Note=In neurons, primarily detected on dendrites, dendritic spines and on the neuron cell body, but not on axons. Localized preferentially at the dendrites of pyramidal cells in the hippocampus CA1 layer. Detected at GABAergic synapses. Detected at cell junctions that are distinct from synaptic cell contacts. Detected in lipid rafts. Detected primarily at the endoplasmic reticulum or Golgi when expressed by itself (PubMed 15454437). Interaction with KCNIP1, KCNIP2, KCNIP3 or KCNIP4 promotes expression at the cell membrane (PubMed 15454437, PubMed 24811166). Interaction with DPP6 or DPP10 promotes expression at the cell membrane (By similarity). Internalized from the cell membrane by clathrin-dependent endocytosis in response to activation of AMPA-selective glutamate receptors and PKA-mediated phosphorylation at Ser-552. Redistributed from dendritic spines to the main dendritic shaft in response to activation of AMPA-selective glutamate receptors and activation of PKA (By similarity). {ECO 0000250|UniProtKB Q63881, ECO 0000250|UniProtKB Q9Z0V2, ECO 0000269|PubMed 15454437, ECO 0000269|PubMed 24811166}. # SUBUNIT KCND2_HUMAN Homotetramer or heterotetramer with KCND1 or KCND3 (PubMed 14980201, PubMed 16934482, PubMed 24811166). Associates with the regulatory subunits KCNIP1, KCNIP2, KCNIP3 and KCNIP4 (PubMed 10676964, PubMed 11287421, PubMed 11847232, PubMed 12451113, PubMed 15358149, PubMed 14623880, PubMed 14980201, PubMed 14980207, PubMed 24811166). In vivo, probably exists as heteromeric complex containing variable proportions of KCND1, KCND2, KCND3, KCNIP1, KCNIP2, KCNIP3, KCNIP4, DPP6 and DPP10 (PubMed 19171772). The tetrameric channel can associate with up to four regulatory subunits, such as KCNIP2 or KCNIP4 (PubMed 14623880, PubMed 14980201, PubMed 24811166). Interaction with four KCNIP4 chains does not reduce interaction with DPP10 (PubMed 24811166). Interacts with DLG4 and NCS1/FREQ (By similarity). Interacts with DLG1 (PubMed 19213956). Probably part of a complex consisting of KCNIP1, KCNIP2 isoform 3 and KCND2 (PubMed 15358149). Interacts with FLNA, FLNC, DPP6 and DPP10 (PubMed 11102480, PubMed 15454437, PubMed 24811166). {ECO 0000250|UniProtKB Q63881, ECO 0000250|UniProtKB Q9Z0V2, ECO 0000269|PubMed 10676964, ECO 0000269|PubMed 11102480, ECO 0000269|PubMed 11287421, ECO 0000269|PubMed 11847232, ECO 0000269|PubMed 12451113, ECO 0000269|PubMed 14623880, ECO 0000269|PubMed 14980201, ECO 0000269|PubMed 14980207, ECO 0000269|PubMed 15358149, ECO 0000269|PubMed 15454437, ECO 0000269|PubMed 16934482, ECO 0000269|PubMed 19213956, ECO 0000269|PubMed 24811166, ECO 0000305|PubMed 19171772}. # SUPFAM SSF54695 SSF54695 # TCDB 1.A.1.2 the voltage-gated ion channel (vic) superfamily # TISSUE SPECIFICITY KCND2_HUMAN Detected in ovary, in corpus luteum and in granulosa and theca cells in the follicle (at protein level) (PubMed 15991246). Highly expressed throughout the brain (PubMed 10551270, PubMed 10729221). Detected in amygdala, caudate nucleus, cerebellum, hippocampus, substantia nigra and thalamus (PubMed 10551270, PubMed 10729221). Expression is not detectable or very low in heart, kidney, liver, lung, pancreas and skeletal muscle (PubMed 10551270, PubMed 10729221). Not detectable in human heart atrium (PubMed 12395204). {ECO 0000269|PubMed 10551270, ECO 0000269|PubMed 10729221, ECO 0000269|PubMed 12395204, ECO 0000269|PubMed 15991246}. # UCSC uc003vjj human # eggNOG COG1226 LUCA # eggNOG KOG4390 Eukaryota BLAST swissprot:KCND2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCND2_HUMAN BioCyc ZFISH:G66-31146-MONOMER http://biocyc.org/getid?id=ZFISH:G66-31146-MONOMER COXPRESdb 3751 http://coxpresdb.jp/data/gene/3751.shtml CleanEx HS_KCND2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCND2 DOI 10.1002/jcp.20453 http://dx.doi.org/10.1002/jcp.20453 DOI 10.1006/geno.2000.6117 http://dx.doi.org/10.1006/geno.2000.6117 DOI 10.1007/s00395-002-0377-4 http://dx.doi.org/10.1007/s00395-002-0377-4 DOI 10.1007/s11064-008-9650-8 http://dx.doi.org/10.1007/s11064-008-9650-8 DOI 10.1007/s12035-007-8001-0 http://dx.doi.org/10.1007/s12035-007-8001-0 DOI 10.1016/S0006-3495(04)74097-7 http://dx.doi.org/10.1016/S0006-3495(04)74097-7 DOI 10.1016/S0896-6273(04)00049-2 http://dx.doi.org/10.1016/S0896-6273(04)00049-2 DOI 10.1016/S0896-6273(04)00050-9 http://dx.doi.org/10.1016/S0896-6273(04)00050-9 DOI 10.1016/j.bbrc.2004.07.006 http://dx.doi.org/10.1016/j.bbrc.2004.07.006 DOI 10.1016/j.nbd.2006.07.001 http://dx.doi.org/10.1016/j.nbd.2006.07.001 DOI 10.1038/35000592 http://dx.doi.org/10.1038/35000592 DOI 10.1038/nature01782 http://dx.doi.org/10.1038/nature01782 DOI 10.1074/jbc.M101320200 http://dx.doi.org/10.1074/jbc.M101320200 DOI 10.1074/jbc.M114.563452 http://dx.doi.org/10.1074/jbc.M114.563452 DOI 10.1074/jbc.M200897200 http://dx.doi.org/10.1074/jbc.M200897200 DOI 10.1074/jbc.M311332200 http://dx.doi.org/10.1074/jbc.M311332200 DOI 10.1085/jgp.200810073 http://dx.doi.org/10.1085/jgp.200810073 DOI 10.1093/dnares/6.3.197 http://dx.doi.org/10.1093/dnares/6.3.197 DOI 10.1093/hmg/ddu056 http://dx.doi.org/10.1093/hmg/ddu056 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1469-7793.2001.00065.x http://dx.doi.org/10.1111/j.1469-7793.2001.00065.x DOI 10.1161/CIRCRESAHA.108.191007 http://dx.doi.org/10.1161/CIRCRESAHA.108.191007 DOI 10.1529/biophysj.104.042358 http://dx.doi.org/10.1529/biophysj.104.042358 DrugBank DB00280 http://www.drugbank.ca/drugs/DB00280 DrugBank DB00321 http://www.drugbank.ca/drugs/DB00321 DrugBank DB00458 http://www.drugbank.ca/drugs/DB00458 DrugBank DB06637 http://www.drugbank.ca/drugs/DB06637 EMBL AB028967 http://www.ebi.ac.uk/ena/data/view/AB028967 EMBL AC004888 http://www.ebi.ac.uk/ena/data/view/AC004888 EMBL AC004946 http://www.ebi.ac.uk/ena/data/view/AC004946 EMBL AF121104 http://www.ebi.ac.uk/ena/data/view/AF121104 EMBL AF142568 http://www.ebi.ac.uk/ena/data/view/AF142568 EMBL AF166007 http://www.ebi.ac.uk/ena/data/view/AF166007 EMBL AF166008 http://www.ebi.ac.uk/ena/data/view/AF166008 EMBL AJ010969 http://www.ebi.ac.uk/ena/data/view/AJ010969 EMBL BC110449 http://www.ebi.ac.uk/ena/data/view/BC110449 EMBL BC110450 http://www.ebi.ac.uk/ena/data/view/BC110450 Ensembl ENST00000331113 http://www.ensembl.org/id/ENST00000331113 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0008076 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008076 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0031226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031226 GO_component GO:0032809 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032809 GO_component GO:0043197 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043197 GO_component GO:0043204 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043204 GO_component GO:0044853 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044853 GO_component GO:0045211 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045211 GO_function GO:0005249 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005249 GO_function GO:0005250 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005250 GO_function GO:0046872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046872 GO_process GO:0001508 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001508 GO_process GO:0007268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007268 GO_process GO:0019228 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019228 GO_process GO:0019233 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019233 GO_process GO:0045475 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045475 GO_process GO:0051260 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051260 GO_process GO:0061337 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061337 GO_process GO:0071456 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071456 GO_process GO:0071805 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071805 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.20.120.350 http://www.cathdb.info/version/latest/superfamily/1.20.120.350 GeneCards KCND2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCND2 GeneID 3751 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=3751 GeneTree ENSGT00760000118846 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118846 HGNC HGNC:6238 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6238 HOVERGEN HBG106687 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG106687&db=HOVERGEN HPA HPA029068 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA029068 InParanoid Q9NZV8 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9NZV8 IntAct Q9NZV8 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9NZV8* InterPro IPR000210 http://www.ebi.ac.uk/interpro/entry/IPR000210 InterPro IPR003131 http://www.ebi.ac.uk/interpro/entry/IPR003131 InterPro IPR003968 http://www.ebi.ac.uk/interpro/entry/IPR003968 InterPro IPR003975 http://www.ebi.ac.uk/interpro/entry/IPR003975 InterPro IPR004055 http://www.ebi.ac.uk/interpro/entry/IPR004055 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR011333 http://www.ebi.ac.uk/interpro/entry/IPR011333 InterPro IPR021645 http://www.ebi.ac.uk/interpro/entry/IPR021645 InterPro IPR024587 http://www.ebi.ac.uk/interpro/entry/IPR024587 InterPro IPR027359 http://www.ebi.ac.uk/interpro/entry/IPR027359 InterPro IPR028325 http://www.ebi.ac.uk/interpro/entry/IPR028325 Jabion 3751 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=3751 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:3751 http://www.genome.jp/dbget-bin/www_bget?hsa:3751 KEGG_Orthology KO:K04892 http://www.genome.jp/dbget-bin/www_bget?KO:K04892 KEGG_Pathway ko04726 http://www.genome.jp/kegg-bin/show_pathway?ko04726 MIM 605410 http://www.ncbi.nlm.nih.gov/omim/605410 OMA NYTSANQ http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=NYTSANQ OrthoDB EOG091G18X0 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G18X0 PANTHER PTHR11537 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11537 PRINTS PR00169 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00169 PRINTS PR01491 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01491 PRINTS PR01497 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01497 PRINTS PR01517 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01517 PSORT swissprot:KCND2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCND2_HUMAN PSORT-B swissprot:KCND2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCND2_HUMAN PSORT2 swissprot:KCND2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCND2_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF02214 http://pfam.xfam.org/family/PF02214 Pfam PF11601 http://pfam.xfam.org/family/PF11601 Pfam PF11879 http://pfam.xfam.org/family/PF11879 PharmGKB PA30030 http://www.pharmgkb.org/do/serve?objId=PA30030&objCls=Gene Phobius swissprot:KCND2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCND2_HUMAN PhylomeDB Q9NZV8 http://phylomedb.org/?seqid=Q9NZV8 ProteinModelPortal Q9NZV8 http://www.proteinmodelportal.org/query/uniprot/Q9NZV8 PubMed 10470851 http://www.ncbi.nlm.nih.gov/pubmed/10470851 PubMed 10551270 http://www.ncbi.nlm.nih.gov/pubmed/10551270 PubMed 10676964 http://www.ncbi.nlm.nih.gov/pubmed/10676964 PubMed 10729221 http://www.ncbi.nlm.nih.gov/pubmed/10729221 PubMed 11102480 http://www.ncbi.nlm.nih.gov/pubmed/11102480 PubMed 11287421 http://www.ncbi.nlm.nih.gov/pubmed/11287421 PubMed 11507158 http://www.ncbi.nlm.nih.gov/pubmed/11507158 PubMed 11847232 http://www.ncbi.nlm.nih.gov/pubmed/11847232 PubMed 12395204 http://www.ncbi.nlm.nih.gov/pubmed/12395204 PubMed 12451113 http://www.ncbi.nlm.nih.gov/pubmed/12451113 PubMed 12853948 http://www.ncbi.nlm.nih.gov/pubmed/12853948 PubMed 14623880 http://www.ncbi.nlm.nih.gov/pubmed/14623880 PubMed 14695263 http://www.ncbi.nlm.nih.gov/pubmed/14695263 PubMed 14980201 http://www.ncbi.nlm.nih.gov/pubmed/14980201 PubMed 14980207 http://www.ncbi.nlm.nih.gov/pubmed/14980207 PubMed 15358149 http://www.ncbi.nlm.nih.gov/pubmed/15358149 PubMed 15454437 http://www.ncbi.nlm.nih.gov/pubmed/15454437 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15991246 http://www.ncbi.nlm.nih.gov/pubmed/15991246 PubMed 16934482 http://www.ncbi.nlm.nih.gov/pubmed/16934482 PubMed 17917103 http://www.ncbi.nlm.nih.gov/pubmed/17917103 PubMed 18357523 http://www.ncbi.nlm.nih.gov/pubmed/18357523 PubMed 19171772 http://www.ncbi.nlm.nih.gov/pubmed/19171772 PubMed 19213956 http://www.ncbi.nlm.nih.gov/pubmed/19213956 PubMed 24501278 http://www.ncbi.nlm.nih.gov/pubmed/24501278 PubMed 24811166 http://www.ncbi.nlm.nih.gov/pubmed/24811166 PubMed 9843794 http://www.ncbi.nlm.nih.gov/pubmed/9843794 Reactome R-HSA-1296072 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1296072 Reactome R-HSA-5576894 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576894 RefSeq NP_036413 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_036413 SMART SM00225 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00225 SMR Q9NZV8 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9NZV8 STRING 9606.ENSP00000333496 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000333496&targetmode=cogs SUPFAM SSF54695 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF54695 TCDB 1.A.1.2 http://www.tcdb.org/search/result.php?tc=1.A.1.2 UCSC uc003vjj http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003vjj&org=rat UniGene Hs.654739 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.654739 UniProtKB KCND2_HUMAN http://www.uniprot.org/uniprot/KCND2_HUMAN UniProtKB-AC Q9NZV8 http://www.uniprot.org/uniprot/Q9NZV8 charge swissprot:KCND2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCND2_HUMAN eggNOG COG1226 http://eggnogapi.embl.de/nog_data/html/tree/COG1226 eggNOG KOG4390 http://eggnogapi.embl.de/nog_data/html/tree/KOG4390 epestfind swissprot:KCND2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCND2_HUMAN garnier swissprot:KCND2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCND2_HUMAN helixturnhelix swissprot:KCND2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCND2_HUMAN hmoment swissprot:KCND2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCND2_HUMAN iep swissprot:KCND2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCND2_HUMAN inforesidue swissprot:KCND2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCND2_HUMAN neXtProt NX_Q9NZV8 http://www.nextprot.org/db/entry/NX_Q9NZV8 octanol swissprot:KCND2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCND2_HUMAN pepcoil swissprot:KCND2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCND2_HUMAN pepdigest swissprot:KCND2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCND2_HUMAN pepinfo swissprot:KCND2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCND2_HUMAN pepnet swissprot:KCND2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCND2_HUMAN pepstats swissprot:KCND2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCND2_HUMAN pepwheel swissprot:KCND2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCND2_HUMAN pepwindow swissprot:KCND2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCND2_HUMAN sigcleave swissprot:KCND2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCND2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS CTL1_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; Synonyms=A; IsoId=Q8WWI5-1; Sequence=Displayed; Name=2; Synonyms=B; IsoId=Q8WWI5-2; Sequence=VSP_015424, VSP_015425; Name=3; Synonyms=C; IsoId=Q8WWI5-3; Sequence=VSP_015426, VSP_015427; # AltName CTL1_HUMAN CD92 # AltName CTL1_HUMAN CDw92 # AltName CTL1_HUMAN Solute carrier family 44 member 1 # BioGrid 117012 11 # CCDS CCDS6763 -. [Q8WWI5-1] # CCDS CCDS75868 -. [Q8WWI5-3] # CCDS CCDS83390 -. [Q8WWI5-2] # ChiTaRS SLC44A1 human # DrugBank DB00122 Choline # Ensembl ENST00000374720 ENSP00000363852; ENSG00000070214. [Q8WWI5-1] # Ensembl ENST00000374723 ENSP00000363855; ENSG00000070214. [Q8WWI5-3] # Ensembl ENST00000374724 ENSP00000363856; ENSG00000070214. [Q8WWI5-2] # Ensembl ENST00000470972 ENSP00000433072; ENSG00000070214. [Q8WWI5-1] # ExpressionAtlas Q8WWI5 baseline and differential # FUNCTION CTL1_HUMAN Choline transporter. May be involved in membrane synthesis and myelin production. {ECO 0000269|PubMed 19357133}. # GO_component GO:0005654 nucleoplasm; IDA:HPA. # GO_component GO:0005739 mitochondrion; IDA:HPA. # GO_component GO:0005741 mitochondrial outer membrane; TAS:Reactome. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; TAS:UniProtKB. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0015220 choline transmembrane transporter activity; TAS:UniProtKB. # GO_process GO:0006656 phosphatidylcholine biosynthetic process; TAS:Reactome. # GO_process GO:0015871 choline transport; TAS:UniProtKB. # GO_process GO:0042426 choline catabolic process; TAS:Reactome. # GO_process GO:0055085 transmembrane transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005654 nucleoplasm # GOslim_component GO:0005739 mitochondrion # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006629 lipid metabolic process # GOslim_process GO:0006810 transport # GOslim_process GO:0009056 catabolic process # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0055085 transmembrane transport # Genevisible Q8WWI5 HS # HGNC HGNC:18798 SLC44A1 # IntAct Q8WWI5 4 # InterPro IPR007603 Choline_transptr-like # KEGG_Brite ko02001 Solute carrier family # KEGG_Brite ko04090 Cellular antigens # MIM 606105 gene # Organism CTL1_HUMAN Homo sapiens (Human) # PANTHER PTHR12385 PTHR12385 # Pfam PF04515 Choline_transpo # Proteomes UP000005640 Chromosome 9 # Reactome R-HSA-1483191 Synthesis of PC # Reactome R-HSA-425366 Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds # Reactome R-HSA-6798163 Choline catabolism # RecName CTL1_HUMAN Choline transporter-like protein 1 # RefSeq NP_001273659 NM_001286730.1. [Q8WWI5-3] # RefSeq NP_001317660 NM_001330731.1 # RefSeq NP_536856 NM_080546.4. [Q8WWI5-1] # SIMILARITY Belongs to the CTL (choline transporter-like) family. {ECO 0000305}. # SUBCELLULAR LOCATION CTL1_HUMAN Cell membrane {ECO 0000269|PubMed 19357133}; Multi-pass membrane protein {ECO 0000269|PubMed 19357133}. Mitochondrion outer membrane {ECO 0000269|PubMed 19357133}; Multi- pass membrane protein {ECO 0000269|PubMed 19357133}. # TCDB 2.A.92.1 the choline transporter-like (ctl) family # TISSUE SPECIFICITY Expressed in various cells of the hematopoietic system. {ECO:0000269|PubMed 11698453}. # UCSC uc004bcn human. [Q8WWI5-1] # eggNOG ENOG410XS0P LUCA # eggNOG KOG1362 Eukaryota BLAST swissprot:CTL1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CTL1_HUMAN COXPRESdb 23446 http://coxpresdb.jp/data/gene/23446.shtml CleanEx HS_SLC44A1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC44A1 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1038/nature02465 http://dx.doi.org/10.1038/nature02465 DOI 10.1073/pnas.030339697 http://dx.doi.org/10.1073/pnas.030339697 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1074/mcp.M111.015131 http://dx.doi.org/10.1074/mcp.M111.015131 DOI 10.1096/fj.08-121491 http://dx.doi.org/10.1096/fj.08-121491 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1471-4159.2004.02962.x http://dx.doi.org/10.1111/j.1471-4159.2004.02962.x DOI 10.4049/jimmunol.167.10.5795 http://dx.doi.org/10.4049/jimmunol.167.10.5795 DrugBank DB00122 http://www.drugbank.ca/drugs/DB00122 EMBL AJ245620 http://www.ebi.ac.uk/ena/data/view/AJ245620 EMBL AJ272365 http://www.ebi.ac.uk/ena/data/view/AJ272365 EMBL AJ420812 http://www.ebi.ac.uk/ena/data/view/AJ420812 EMBL AL161627 http://www.ebi.ac.uk/ena/data/view/AL161627 EMBL AL161627 http://www.ebi.ac.uk/ena/data/view/AL161627 EMBL AL161627 http://www.ebi.ac.uk/ena/data/view/AL161627 EMBL AL161627 http://www.ebi.ac.uk/ena/data/view/AL161627 EMBL AL161627 http://www.ebi.ac.uk/ena/data/view/AL161627 EMBL AL161627 http://www.ebi.ac.uk/ena/data/view/AL161627 EMBL AL161627 http://www.ebi.ac.uk/ena/data/view/AL161627 EMBL AL161627 http://www.ebi.ac.uk/ena/data/view/AL161627 EMBL AL161627 http://www.ebi.ac.uk/ena/data/view/AL161627 EMBL AL450265 http://www.ebi.ac.uk/ena/data/view/AL450265 EMBL AL450265 http://www.ebi.ac.uk/ena/data/view/AL450265 EMBL AL450265 http://www.ebi.ac.uk/ena/data/view/AL450265 EMBL AL450265 http://www.ebi.ac.uk/ena/data/view/AL450265 EMBL AL450265 http://www.ebi.ac.uk/ena/data/view/AL450265 EMBL AL450265 http://www.ebi.ac.uk/ena/data/view/AL450265 EMBL AL450265 http://www.ebi.ac.uk/ena/data/view/AL450265 EMBL AL450265 http://www.ebi.ac.uk/ena/data/view/AL450265 EMBL AL450265 http://www.ebi.ac.uk/ena/data/view/AL450265 EMBL AL590368 http://www.ebi.ac.uk/ena/data/view/AL590368 EMBL AL590368 http://www.ebi.ac.uk/ena/data/view/AL590368 EMBL AL590368 http://www.ebi.ac.uk/ena/data/view/AL590368 EMBL AL590368 http://www.ebi.ac.uk/ena/data/view/AL590368 EMBL AL590368 http://www.ebi.ac.uk/ena/data/view/AL590368 EMBL AL590368 http://www.ebi.ac.uk/ena/data/view/AL590368 EMBL AL590368 http://www.ebi.ac.uk/ena/data/view/AL590368 EMBL AL590368 http://www.ebi.ac.uk/ena/data/view/AL590368 EMBL AL590368 http://www.ebi.ac.uk/ena/data/view/AL590368 EMBL BC018213 http://www.ebi.ac.uk/ena/data/view/BC018213 EMBL BC049203 http://www.ebi.ac.uk/ena/data/view/BC049203 Ensembl ENST00000374720 http://www.ensembl.org/id/ENST00000374720 Ensembl ENST00000374723 http://www.ensembl.org/id/ENST00000374723 Ensembl ENST00000374724 http://www.ensembl.org/id/ENST00000374724 Ensembl ENST00000470972 http://www.ensembl.org/id/ENST00000470972 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005741 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005741 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0015220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015220 GO_process GO:0006656 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006656 GO_process GO:0015871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015871 GO_process GO:0042426 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042426 GO_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006629 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006629 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0009056 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009056 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC44A1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC44A1 GeneID 23446 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=23446 GeneTree ENSGT00550000074521 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074521 HGNC HGNC:18798 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:18798 HOGENOM HOG000231655 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231655&db=HOGENOM6 HOVERGEN HBG080361 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG080361&db=HOVERGEN HPA HPA064714 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA064714 InParanoid Q8WWI5 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8WWI5 IntAct Q8WWI5 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q8WWI5* InterPro IPR007603 http://www.ebi.ac.uk/interpro/entry/IPR007603 Jabion 23446 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=23446 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Brite ko04090 http://www.genome.jp/dbget-bin/www_bget?ko04090 KEGG_Gene hsa:23446 http://www.genome.jp/dbget-bin/www_bget?hsa:23446 KEGG_Orthology KO:K06515 http://www.genome.jp/dbget-bin/www_bget?KO:K06515 MIM 606105 http://www.ncbi.nlm.nih.gov/omim/606105 MINT MINT-8247377 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-8247377 OMA ICGFTIV http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=ICGFTIV OrthoDB EOG091G0CMQ http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0CMQ PANTHER PTHR12385 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12385 PSORT swissprot:CTL1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CTL1_HUMAN PSORT-B swissprot:CTL1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CTL1_HUMAN PSORT2 swissprot:CTL1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CTL1_HUMAN Pfam PF04515 http://pfam.xfam.org/family/PF04515 PharmGKB PA134958011 http://www.pharmgkb.org/do/serve?objId=PA134958011&objCls=Gene Phobius swissprot:CTL1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CTL1_HUMAN PhylomeDB Q8WWI5 http://phylomedb.org/?seqid=Q8WWI5 ProteinModelPortal Q8WWI5 http://www.proteinmodelportal.org/query/uniprot/Q8WWI5 PubMed 10677542 http://www.ncbi.nlm.nih.gov/pubmed/10677542 PubMed 11698453 http://www.ncbi.nlm.nih.gov/pubmed/11698453 PubMed 15164053 http://www.ncbi.nlm.nih.gov/pubmed/15164053 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15715662 http://www.ncbi.nlm.nih.gov/pubmed/15715662 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 19357133 http://www.ncbi.nlm.nih.gov/pubmed/19357133 PubMed 22223895 http://www.ncbi.nlm.nih.gov/pubmed/22223895 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 Reactome R-HSA-1483191 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1483191 Reactome R-HSA-425366 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-425366 Reactome R-HSA-6798163 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6798163 RefSeq NP_001273659 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001273659 RefSeq NP_001317660 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001317660 RefSeq NP_536856 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_536856 STRING 9606.ENSP00000363852 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000363852&targetmode=cogs TCDB 2.A.92.1 http://www.tcdb.org/search/result.php?tc=2.A.92.1 UCSC uc004bcn http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc004bcn&org=rat UniGene Hs.573495 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.573495 UniProtKB CTL1_HUMAN http://www.uniprot.org/uniprot/CTL1_HUMAN UniProtKB-AC Q8WWI5 http://www.uniprot.org/uniprot/Q8WWI5 charge swissprot:CTL1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CTL1_HUMAN eggNOG ENOG410XS0P http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XS0P eggNOG KOG1362 http://eggnogapi.embl.de/nog_data/html/tree/KOG1362 epestfind swissprot:CTL1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CTL1_HUMAN garnier swissprot:CTL1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CTL1_HUMAN helixturnhelix swissprot:CTL1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CTL1_HUMAN hmoment swissprot:CTL1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CTL1_HUMAN iep swissprot:CTL1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CTL1_HUMAN inforesidue swissprot:CTL1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CTL1_HUMAN neXtProt NX_Q8WWI5 http://www.nextprot.org/db/entry/NX_Q8WWI5 octanol swissprot:CTL1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CTL1_HUMAN pepcoil swissprot:CTL1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CTL1_HUMAN pepdigest swissprot:CTL1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CTL1_HUMAN pepinfo swissprot:CTL1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CTL1_HUMAN pepnet swissprot:CTL1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CTL1_HUMAN pepstats swissprot:CTL1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CTL1_HUMAN pepwheel swissprot:CTL1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CTL1_HUMAN pepwindow swissprot:CTL1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CTL1_HUMAN sigcleave swissprot:CTL1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CTL1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS BAX_HUMAN Event=Alternative splicing; Named isoforms=8; Name=Alpha; IsoId=Q07812-1; Sequence=Displayed; Name=Beta; IsoId=Q07812-2, Q07814-1; Sequence=VSP_031237; Name=Gamma; IsoId=Q07812-3, Q07815-1; Sequence=VSP_031234, VSP_031236; Name=Delta; IsoId=Q07812-4, P55269-1; Sequence=VSP_031235; Name=Epsilon; IsoId=Q07812-5; Sequence=VSP_031240; Name=Zeta; IsoId=Q07812-6; Sequence=VSP_031239; Name=Psi; IsoId=Q07812-7; Sequence=VSP_031238; Name=Sigma; IsoId=Q07812-8; Sequence=VSP_037475; # AltName BAX_HUMAN Bcl-2-like protein 4 # BioGrid 107057 76 # CCDS CCDS12742 -. [Q07812-1] # CCDS CCDS12743 -. [Q07812-4] # CCDS CCDS12744 -. [Q07812-2] # CCDS CCDS12745 -. [Q07812-8] # ChiTaRS BAX human # DOMAIN BAX_HUMAN Intact BH3 motif is required by BIK, BID, BAK, BAD and BAX for their pro-apoptotic activity and for their interaction with anti-apoptotic members of the Bcl-2 family. {ECO 0000250}. # Ensembl ENST00000293288 ENSP00000293288; ENSG00000087088. [Q07812-2] # Ensembl ENST00000345358 ENSP00000263262; ENSG00000087088. [Q07812-1] # Ensembl ENST00000354470 ENSP00000346461; ENSG00000087088. [Q07812-4] # Ensembl ENST00000356483 ENSP00000348871; ENSG00000087088. [Q07812-5] # Ensembl ENST00000415969 ENSP00000389971; ENSG00000087088. [Q07812-8] # Ensembl ENST00000515540 ENSP00000426328; ENSG00000087088. [Q07812-3] # ExpressionAtlas Q07812 baseline and differential # FUNCTION BAX_HUMAN Accelerates programmed cell death by binding to, and antagonizing the apoptosis repressor BCL2 or its adenovirus homolog E1B 19k protein. Under stress conditions, undergoes a conformation change that causes translocation to the mitochondrion membrane, leading to the release of cytochrome c that then triggers apoptosis. Promotes activation of CASP3, and thereby apoptosis. {ECO 0000269|PubMed 10772918, ECO 0000269|PubMed 16113678, ECO 0000269|PubMed 18948948, ECO 0000269|PubMed 21199865, ECO 0000269|PubMed 8358790, ECO 0000269|PubMed 8521816}. # GO_component GO:0005634 nucleus; IMP:UniProtKB. # GO_component GO:0005635 nuclear envelope; IDA:AgBase. # GO_component GO:0005737 cytoplasm; IDA:UniProtKB. # GO_component GO:0005739 mitochondrion; IDA:UniProtKB. # GO_component GO:0005741 mitochondrial outer membrane; IBA:GO_Central. # GO_component GO:0005757 mitochondrial permeability transition pore complex; IDA:HGNC. # GO_component GO:0005783 endoplasmic reticulum; IDA:HGNC. # GO_component GO:0005789 endoplasmic reticulum membrane; IDA:HGNC. # GO_component GO:0005829 cytosol; IDA:UniProtKB. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0046930 pore complex; IDA:BHF-UCL. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_component GO:0097136 Bcl-2 family protein complex; IDA:UniProtKB. # GO_component GO:0097144 BAX complex; IDA:UniProtKB. # GO_function GO:0008289 lipid binding; IDA:HGNC. # GO_function GO:0015267 channel activity; IDA:BHF-UCL. # GO_function GO:0042802 identical protein binding; IPI:IntAct. # GO_function GO:0042803 protein homodimerization activity; IDA:HGNC. # GO_function GO:0046982 protein heterodimerization activity; IPI:HGNC. # GO_function GO:0051434 BH3 domain binding; IDA:UniProtKB. # GO_process GO:0001541 ovarian follicle development; IEA:Ensembl. # GO_process GO:0001764 neuron migration; IEA:Ensembl. # GO_process GO:0001777 T cell homeostatic proliferation; IEA:Ensembl. # GO_process GO:0001782 B cell homeostasis; IEA:Ensembl. # GO_process GO:0001783 B cell apoptotic process; IDA:HGNC. # GO_process GO:0001822 kidney development; IEA:Ensembl. # GO_process GO:0001836 release of cytochrome c from mitochondria; IDA:BHF-UCL. # GO_process GO:0001844 protein insertion into mitochondrial membrane involved in apoptotic signaling pathway; TAS:Reactome. # GO_process GO:0001974 blood vessel remodeling; IEA:Ensembl. # GO_process GO:0002262 myeloid cell homeostasis; IEA:Ensembl. # GO_process GO:0002352 B cell negative selection; IEA:Ensembl. # GO_process GO:0002358 B cell homeostatic proliferation; IEA:Ensembl. # GO_process GO:0002904 positive regulation of B cell apoptotic process; IEA:Ensembl. # GO_process GO:0006687 glycosphingolipid metabolic process; IEA:Ensembl. # GO_process GO:0006808 regulation of nitrogen utilization; IEA:Ensembl. # GO_process GO:0006915 apoptotic process; NAS:UniProtKB. # GO_process GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process; IDA:HGNC. # GO_process GO:0006977 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; TAS:Reactome. # GO_process GO:0006987 activation of signaling protein activity involved in unfolded protein response; TAS:ParkinsonsUK-UCL. # GO_process GO:0007281 germ cell development; IEA:Ensembl. # GO_process GO:0008053 mitochondrial fusion; IDA:HGNC. # GO_process GO:0008625 extrinsic apoptotic signaling pathway via death domain receptors; IC:BHF-UCL. # GO_process GO:0008630 intrinsic apoptotic signaling pathway in response to DNA damage; IBA:GO_Central. # GO_process GO:0008635 activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c; IDA:HGNC. # GO_process GO:0008637 apoptotic mitochondrial changes; IDA:HGNC. # GO_process GO:0009566 fertilization; IEA:Ensembl. # GO_process GO:0009636 response to toxic substance; IDA:HGNC. # GO_process GO:0009651 response to salt stress; IEA:Ensembl. # GO_process GO:0010248 establishment or maintenance of transmembrane electrochemical gradient; IDA:HGNC. # GO_process GO:0010332 response to gamma radiation; IEA:Ensembl. # GO_process GO:0016032 viral process; IEA:UniProtKB-KW. # GO_process GO:0021854 hypothalamus development; IEA:Ensembl. # GO_process GO:0021987 cerebral cortex development; IEA:Ensembl. # GO_process GO:0032091 negative regulation of protein binding; IDA:UniProtKB. # GO_process GO:0032461 positive regulation of protein oligomerization; IDA:UniProtKB. # GO_process GO:0032469 endoplasmic reticulum calcium ion homeostasis; TAS:UniProtKB. # GO_process GO:0032471 negative regulation of endoplasmic reticulum calcium ion concentration; IEA:Ensembl. # GO_process GO:0032976 release of matrix enzymes from mitochondria; IDA:HGNC. # GO_process GO:0033137 negative regulation of peptidyl-serine phosphorylation; IEA:Ensembl. # GO_process GO:0033599 regulation of mammary gland epithelial cell proliferation; IEA:Ensembl. # GO_process GO:0034644 cellular response to UV; IEA:Ensembl. # GO_process GO:0035234 ectopic germ cell programmed cell death; IEA:Ensembl. # GO_process GO:0042475 odontogenesis of dentin-containing tooth; IEA:Ensembl. # GO_process GO:0042981 regulation of apoptotic process; TAS:Reactome. # GO_process GO:0043065 positive regulation of apoptotic process; IMP:UniProtKB. # GO_process GO:0043496 regulation of protein homodimerization activity; IDA:HGNC. # GO_process GO:0043497 regulation of protein heterodimerization activity; IPI:HGNC. # GO_process GO:0043524 negative regulation of neuron apoptotic process; IEA:Ensembl. # GO_process GO:0043525 positive regulation of neuron apoptotic process; IDA:HGNC. # GO_process GO:0043653 mitochondrial fragmentation involved in apoptotic process; IDA:HGNC. # GO_process GO:0045136 development of secondary sexual characteristics; IEA:Ensembl. # GO_process GO:0046666 retinal cell programmed cell death; IEA:Ensembl. # GO_process GO:0048087 positive regulation of developmental pigmentation; IEA:Ensembl. # GO_process GO:0048147 negative regulation of fibroblast proliferation; IEA:Ensembl. # GO_process GO:0048515 spermatid differentiation; IEA:Ensembl. # GO_process GO:0048597 post-embryonic camera-type eye morphogenesis; IEA:Ensembl. # GO_process GO:0048678 response to axon injury; IEA:Ensembl. # GO_process GO:0048873 homeostasis of number of cells within a tissue; IEA:Ensembl. # GO_process GO:0051259 protein oligomerization; IDA:UniProtKB. # GO_process GO:0051260 protein homooligomerization; IDA:UniProtKB. # GO_process GO:0051281 positive regulation of release of sequestered calcium ion into cytosol; IEA:Ensembl. # GO_process GO:0051402 neuron apoptotic process; IEA:Ensembl. # GO_process GO:0051881 regulation of mitochondrial membrane potential; IDA:HGNC. # GO_process GO:0060011 Sertoli cell proliferation; IEA:Ensembl. # GO_process GO:0060041 retina development in camera-type eye; IEA:Ensembl. # GO_process GO:0060058 positive regulation of apoptotic process involved in mammary gland involution; IEA:Ensembl. # GO_process GO:0060068 vagina development; IEA:Ensembl. # GO_process GO:0070059 intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress; IMP:UniProtKB. # GO_process GO:0070242 thymocyte apoptotic process; IEA:Ensembl. # GO_process GO:0070584 mitochondrion morphogenesis; IEA:Ensembl. # GO_process GO:0072332 intrinsic apoptotic signaling pathway by p53 class mediator; IEA:Ensembl. # GO_process GO:0090200 positive regulation of release of cytochrome c from mitochondria; IDA:UniProtKB. # GO_process GO:0097190 apoptotic signaling pathway; IDA:HGNC. # GO_process GO:0097191 extrinsic apoptotic signaling pathway; IDA:BHF-UCL. # GO_process GO:0097192 extrinsic apoptotic signaling pathway in absence of ligand; IBA:GO_Central. # GO_process GO:0097193 intrinsic apoptotic signaling pathway; IDA:HGNC. # GO_process GO:0097296 activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway; IEA:Ensembl. # GO_process GO:1900103 positive regulation of endoplasmic reticulum unfolded protein response; IMP:UniProtKB. # GO_process GO:1901030 positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway; TAS:Reactome. # GO_process GO:1902262 apoptotic process involved in patterning of blood vessels; IEA:Ensembl. # GO_process GO:1902263 apoptotic process involved in embryonic digit morphogenesis; IEA:Ensembl. # GO_process GO:1902445 regulation of mitochondrial membrane permeability involved in programmed necrotic cell death; IEA:Ensembl. # GO_process GO:1902512 positive regulation of apoptotic DNA fragmentation; IMP:BHF-UCL. # GO_process GO:1903896 positive regulation of IRE1-mediated unfolded protein response; TAS:ParkinsonsUK-UCL. # GO_process GO:1990117 B cell receptor apoptotic signaling pathway; IDA:BHF-UCL. # GO_process GO:2001234 negative regulation of apoptotic signaling pathway; IEA:Ensembl. # GO_process GO:2001241 positive regulation of extrinsic apoptotic signaling pathway in absence of ligand; IEA:Ensembl. # GO_process GO:2001244 positive regulation of intrinsic apoptotic signaling pathway; IMP:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005635 nuclear envelope # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005739 mitochondrion # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_component GO:0005829 cytosol # GOslim_component GO:0043226 organelle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0008289 lipid binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0002376 immune system process # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006629 lipid metabolic process # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007005 mitochondrion organization # GOslim_process GO:0007155 cell adhesion # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0008219 cell death # GOslim_process GO:0008283 cell proliferation # GOslim_process GO:0030154 cell differentiation # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0044403 symbiosis, encompassing mutualism through parasitism # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0048870 cell motility # GOslim_process GO:0055085 transmembrane transport # GOslim_process GO:0061024 membrane organization # Genevisible Q07812 HS # HGNC HGNC:959 BAX # INTERACTION BAX_HUMAN Self; NbExp=27; IntAct=EBI-516580, EBI-516580; P26662 - (xeno); NbExp=3; IntAct=EBI-516580, EBI-9099462; Q16611 BAK1; NbExp=5; IntAct=EBI-516580, EBI-519866; P10415 BCL2; NbExp=11; IntAct=EBI-516580, EBI-77694; Q07817 BCL2L1; NbExp=4; IntAct=EBI-516580, EBI-78035; Q07817-1 BCL2L1; NbExp=13; IntAct=EBI-516580, EBI-287195; O43521 BCL2L11; NbExp=19; IntAct=EBI-516580, EBI-526406; Q92843 BCL2L2; NbExp=3; IntAct=EBI-516580, EBI-707714; P55957 BID; NbExp=16; IntAct=EBI-516580, EBI-519672; P70444 Bid (xeno); NbExp=2; IntAct=EBI-516580, EBI-2128640; Q7L3V2 BOP; NbExp=2; IntAct=EBI-516580, EBI-10697720; O75460 ERN1; NbExp=2; IntAct=EBI-516580, EBI-371750; Q07820 MCL1; NbExp=6; IntAct=EBI-516580, EBI-1003422; P97287 Mcl1 (xeno); NbExp=2; IntAct=EBI-516580, EBI-707292; Q9ULZ3 PYCARD; NbExp=7; IntAct=EBI-516580, EBI-751215; Q7Z419 RNF144B; NbExp=5; IntAct=EBI-516580, EBI-2129982; Q9Y371-1 SH3GLB1; NbExp=2; IntAct=EBI-516580, EBI-5291808; P49334 TOM22 (xeno); NbExp=3; IntAct=EBI-516580, EBI-12527; P23644 TOM40 (xeno); NbExp=2; IntAct=EBI-516580, EBI-12539; P24391 tom40 (xeno); NbExp=2; IntAct=EBI-516580, EBI-1791540; P07213 TOM70 (xeno); NbExp=2; IntAct=EBI-516580, EBI-12551; Q9P2Y5 UVRAG; NbExp=6; IntAct=EBI-516580, EBI-2952704; P17361 VACWR028 (xeno); NbExp=3; IntAct=EBI-516580, EBI-7115640; P12956 XRCC6; NbExp=2; IntAct=EBI-516580, EBI-353208; # IntAct Q07812 57 # InterPro IPR002475 Bcl2-like # InterPro IPR020717 Bcl2_BH1_motif_CS # InterPro IPR020726 Bcl2_BH2_motif_CS # InterPro IPR020728 Bcl2_BH3_motif_CS # InterPro IPR026298 Blc2_fam # InterPro IPR026304 BAX # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Disease H00020 [Cancer] Colorectal cancer # KEGG_Pathway ko04115 p53 signaling pathway # KEGG_Pathway ko04141 Protein processing in endoplasmic reticulum # KEGG_Pathway ko04210 Apoptosis # KEGG_Pathway ko04722 Neurotrophin signaling pathway # KEGG_Pathway ko05014 Amyotrophic lateral sclerosis (ALS) # KEGG_Pathway ko05016 Huntington's disease # KEGG_Pathway ko05020 Prion diseases # KEGG_Pathway ko05152 Tuberculosis # KEGG_Pathway ko05161 Hepatitis B # KEGG_Pathway ko05166 HTLV-I infection # KEGG_Pathway ko05200 Pathways in cancer # KEGG_Pathway ko05203 Viral carcinogenesis # KEGG_Pathway ko05210 Colorectal cancer # MIM 600040 gene # Organism BAX_HUMAN Homo sapiens (Human) # PANTHER PTHR11256 PTHR11256 # PANTHER PTHR11256:SF44 PTHR11256:SF44 # PDB 1F16 NMR; -; A=1-192 # PDB 2G5B X-ray; 2.30 A; I/J/K/L=13-19 # PDB 2K7W NMR; -; A=1-192 # PDB 2LR1 NMR; -; A=1-192 # PDB 3PK1 X-ray; 2.49 A; B/D=48-81 # PDB 3PL7 X-ray; 2.61 A; C=48-81 # PDB 4BD2 X-ray; 2.21 A; A=1-171 # PDB 4BD6 X-ray; 2.49 A; A=1-171, C=48-81 # PDB 4BD7 X-ray; 2.80 A; A/B/C/D=1-171 # PDB 4BD8 X-ray; 2.22 A; A/B/C/D=1-171 # PDB 4BDU X-ray; 3.00 A; A/B/C/D=53-128 # PDB 4S0O X-ray; 1.90 A; A/B=1-192 # PDB 4S0P X-ray; 3.25 A; A/B=1-192 # PDB 4UF2 X-ray; 3.00 A; B=50-77 # PDB 4ZIE X-ray; 1.80 A; A=1-166 # PDB 4ZIF X-ray; 2.40 A; A=1-166 # PDB 4ZIG X-ray; 2.20 A; A=1-166 # PDB 4ZIH X-ray; 2.50 A; A=1-164 # PDB 4ZII X-ray; 2.19 A; A=1-170 # PIR A47538 A47538 # PIR B47538 B47538 # PIR C47538 C47538 # PIR I38921 I38921 # PIR JC7255 JC7255 # PRINTS PR01862 BCL2FAMILY # PROSITE PS01080 BH1 # PROSITE PS01258 BH2 # PROSITE PS01259 BH3 # PROSITE PS50062 BCL2_FAMILY # Pfam PF00452 Bcl-2 # Proteomes UP000005640 Chromosome 19 # Reactome R-HSA-114294 Activation, translocation and oligomerization of BAX # Reactome R-HSA-6803204 TP53 Regulates Transcription of Genes Involved in Cytochrome C Release # Reactome R-HSA-6804114 TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest # RecName BAX_HUMAN Apoptosis regulator BAX # RefSeq NP_001278357 NM_001291428.1 # RefSeq NP_001278360 NM_001291431.1. [Q07812-6] # RefSeq NP_004315 NM_004324.3. [Q07812-2] # RefSeq NP_620116 NM_138761.3. [Q07812-1] # RefSeq NP_620118 NM_138763.3. [Q07812-4] # RefSeq NP_620119 NM_138764.4. [Q07812-8] # RefSeq XP_016882566 XM_017027077.1. [Q07812-7] # SIMILARITY Belongs to the Bcl-2 family. {ECO 0000305}. # SUBCELLULAR LOCATION BAX_HUMAN Isoform Alpha Mitochondrion membrane; Single-pass membrane protein. Cytoplasm. Note=Colocalizes with 14- 3-3 proteins in the cytoplasm. Under stress conditions, undergoes a conformation change that causes release from JNK-phosphorylated 14-3-3 proteins and translocation to the mitochondrion membrane. # SUBCELLULAR LOCATION BAX_HUMAN Isoform Beta Cytoplasm. # SUBCELLULAR LOCATION BAX_HUMAN Isoform Delta Cytoplasm {ECO 0000305}. # SUBCELLULAR LOCATION BAX_HUMAN Isoform Gamma Cytoplasm. # SUBUNIT BAX_HUMAN Homodimer. Forms higher oligomers under stress conditions. Interacts with BCL2L11. Interaction with BCL2L11 promotes BAX oligomerization and association with mitochondrial membranes, with subsequent release of cytochrome c. Forms heterodimers with BCL2, E1B 19K protein, BCL2L1 isoform Bcl-X(L), BCL2L2, MCL1 and A1. Interacts with SH3GLB1 and HN. Interacts with SFN and YWHAZ; the interaction occurs in the cytoplasm. Under stress conditions, JNK-mediated phosphorylation of SFN and YWHAZ, releases BAX to mitochondria. Isoform Sigma interacts with BCL2A1 and BCL2L1 isoform Bcl-X(L). Interacts with RNF144B, which regulates the ubiquitin-dependent stability of BAX. Interacts with CLU under stress conditions that cause a conformation change leading to BAX oligomerization and association with mitochondria. Does not interact with CLU in unstressed cells. Interacts with FAIM2/LFG2. Interacts with human cytomegalovirus/HHV-5 protein vMIA/UL37. Interacts with BOP/C22orf29. Interacts (via a C- terminal 33 residues) with NOL3 (via CARD domain); inhibits BAX activation and translocation and consequently cytochrome c release from mitochondria. {ECO 0000269|PubMed 10772918, ECO 0000269|PubMed 11106734, ECO 0000269|PubMed 11259440, ECO 0000269|PubMed 12732850, ECO 0000269|PubMed 15004026, ECO 0000269|PubMed 15004034, ECO 0000269|PubMed 15071501, ECO 0000269|PubMed 16113678, ECO 0000269|PubMed 16946732, ECO 0000269|PubMed 16964429, ECO 0000269|PubMed 18948948, ECO 0000269|PubMed 20300062, ECO 0000269|PubMed 21199865, ECO 0000269|PubMed 23055042, ECO 0000269|PubMed 8358790}. # TCDB 1.A.21.1 the bcl-2 (bcl-2) family # TISSUE SPECIFICITY BAX_HUMAN Expressed in a wide variety of tissues. Isoform Psi is found in glial tumors. Isoform Alpha is expressed in spleen, breast, ovary, testis, colon and brain, and at low levels in skin and lung. Isoform Sigma is expressed in spleen, breast, ovary, testis, lung, colon, brain and at low levels in skin. Isoform Alpha and isoform Sigma are expressed in pro- myelocytic leukemia, histiocytic lymphoma, Burkitt's lymphoma, T- cell lymphoma, lymphoblastic leukemia, breast adenocarcinoma, ovary adenocarcinoma, prostate carcinoma, prostate adenocarcinoma, lung carcinoma, epidermoid carcinoma, small cell lung carcinoma and colon adenocarcinoma cell lines. {ECO 0000269|PubMed 10772918, ECO 0000269|PubMed 11912183}. # TopDownProteomics Q07812-1 -. [Q07812-1] # TopDownProteomics Q07812-2 -. [Q07812-2] # TopDownProteomics Q07812-5 -. [Q07812-5] # TopDownProteomics Q07812-6 -. [Q07812-6] # TopDownProteomics Q07812-8 -. [Q07812-8] # UCSC uc002plf human. [Q07812-1] # WEB RESOURCE BAX_HUMAN Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http //atlasgeneticsoncology.org/Genes/BAXID128ch19q13.html"; # WEB RESOURCE BAX_HUMAN Name=NIEHS-SNPs; URL="http //egp.gs.washington.edu/data/bax/"; # eggNOG ENOG410IWQJ Eukaryota # eggNOG ENOG4112738 LUCA BLAST swissprot:BAX_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:BAX_HUMAN BioCyc ZFISH:ENSG00000087088-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000087088-MONOMER COXPRESdb 581 http://coxpresdb.jp/data/gene/581.shtml CleanEx HS_BAX http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_BAX DIP DIP-232N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-232N DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1006/bbrc.1998.0130 http://dx.doi.org/10.1006/bbrc.1998.0130 DOI 10.1006/bbrc.2000.2537 http://dx.doi.org/10.1006/bbrc.2000.2537 DOI 10.1007/s13238-012-2069-7 http://dx.doi.org/10.1007/s13238-012-2069-7 DOI 10.1016/0092-8674(93)90509-O http://dx.doi.org/10.1016/0092-8674(93)90509-O DOI 10.1016/0888-7543(95)80180-T http://dx.doi.org/10.1016/0888-7543(95)80180-T DOI 10.1016/S0092-8674(00)00167-7 http://dx.doi.org/10.1016/S0092-8674(00)00167-7 DOI 10.1021/ac9004309 http://dx.doi.org/10.1021/ac9004309 DOI 10.1038/emboj.2010.39 http://dx.doi.org/10.1038/emboj.2010.39 DOI 10.1038/nature01627 http://dx.doi.org/10.1038/nature01627 DOI 10.1038/nature07396 http://dx.doi.org/10.1038/nature07396 DOI 10.1038/ncb1291 http://dx.doi.org/10.1038/ncb1291 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1038/sj.cdd.4402025 http://dx.doi.org/10.1038/sj.cdd.4402025 DOI 10.1038/sj.emboj.7600194 http://dx.doi.org/10.1038/sj.emboj.7600194 DOI 10.1074/jbc.M101527200 http://dx.doi.org/10.1074/jbc.M101527200 DOI 10.1074/jbc.M110.161281 http://dx.doi.org/10.1074/jbc.M110.161281 DOI 10.1074/jbc.M308408200 http://dx.doi.org/10.1074/jbc.M308408200 DOI 10.1074/jbc.M400695200 http://dx.doi.org/10.1074/jbc.M400695200 DOI 10.1093/emboj/18.9.2330 http://dx.doi.org/10.1093/emboj/18.9.2330 DOI 10.1093/hmg/11.6.675 http://dx.doi.org/10.1093/hmg/11.6.675 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AF007826 http://www.ebi.ac.uk/ena/data/view/AF007826 EMBL AF247393 http://www.ebi.ac.uk/ena/data/view/AF247393 EMBL AF250190 http://www.ebi.ac.uk/ena/data/view/AF250190 EMBL AJ417988 http://www.ebi.ac.uk/ena/data/view/AJ417988 EMBL AK291076 http://www.ebi.ac.uk/ena/data/view/AK291076 EMBL AY217036 http://www.ebi.ac.uk/ena/data/view/AY217036 EMBL BC014175 http://www.ebi.ac.uk/ena/data/view/BC014175 EMBL CH471177 http://www.ebi.ac.uk/ena/data/view/CH471177 EMBL CH471177 http://www.ebi.ac.uk/ena/data/view/CH471177 EMBL L22473 http://www.ebi.ac.uk/ena/data/view/L22473 EMBL L22474 http://www.ebi.ac.uk/ena/data/view/L22474 EMBL L22475 http://www.ebi.ac.uk/ena/data/view/L22475 EMBL U19599 http://www.ebi.ac.uk/ena/data/view/U19599 Ensembl ENST00000293288 http://www.ensembl.org/id/ENST00000293288 Ensembl ENST00000345358 http://www.ensembl.org/id/ENST00000345358 Ensembl ENST00000354470 http://www.ensembl.org/id/ENST00000354470 Ensembl ENST00000356483 http://www.ensembl.org/id/ENST00000356483 Ensembl ENST00000415969 http://www.ensembl.org/id/ENST00000415969 Ensembl ENST00000515540 http://www.ensembl.org/id/ENST00000515540 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005635 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005635 GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005741 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005741 GO_component GO:0005757 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005757 GO_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GO_component GO:0005789 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005789 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0046930 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046930 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_component GO:0097136 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097136 GO_component GO:0097144 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097144 GO_function GO:0008289 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008289 GO_function GO:0015267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015267 GO_function GO:0042802 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042802 GO_function GO:0042803 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042803 GO_function GO:0046982 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046982 GO_function GO:0051434 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051434 GO_process GO:0001541 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001541 GO_process GO:0001764 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001764 GO_process GO:0001777 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001777 GO_process GO:0001782 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001782 GO_process GO:0001783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001783 GO_process GO:0001822 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001822 GO_process GO:0001836 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001836 GO_process GO:0001844 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001844 GO_process GO:0001974 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001974 GO_process GO:0002262 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002262 GO_process GO:0002352 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002352 GO_process GO:0002358 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002358 GO_process GO:0002904 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002904 GO_process GO:0006687 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006687 GO_process GO:0006808 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006808 GO_process GO:0006915 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006915 GO_process GO:0006919 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006919 GO_process GO:0006977 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006977 GO_process GO:0006987 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006987 GO_process GO:0007281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007281 GO_process GO:0008053 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008053 GO_process GO:0008625 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008625 GO_process GO:0008630 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008630 GO_process GO:0008635 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008635 GO_process GO:0008637 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008637 GO_process GO:0009566 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009566 GO_process GO:0009636 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009636 GO_process GO:0009651 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009651 GO_process GO:0010248 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010248 GO_process GO:0010332 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010332 GO_process GO:0016032 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016032 GO_process GO:0021854 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021854 GO_process GO:0021987 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021987 GO_process GO:0032091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032091 GO_process GO:0032461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032461 GO_process GO:0032469 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032469 GO_process GO:0032471 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032471 GO_process GO:0032976 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032976 GO_process GO:0033137 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033137 GO_process GO:0033599 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033599 GO_process GO:0034644 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034644 GO_process GO:0035234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035234 GO_process GO:0042475 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042475 GO_process GO:0042981 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042981 GO_process GO:0043065 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043065 GO_process GO:0043496 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043496 GO_process GO:0043497 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043497 GO_process GO:0043524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043524 GO_process GO:0043525 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043525 GO_process GO:0043653 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043653 GO_process GO:0045136 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045136 GO_process GO:0046666 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046666 GO_process GO:0048087 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048087 GO_process GO:0048147 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048147 GO_process GO:0048515 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048515 GO_process GO:0048597 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048597 GO_process GO:0048678 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048678 GO_process GO:0048873 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048873 GO_process GO:0051259 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051259 GO_process GO:0051260 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051260 GO_process GO:0051281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051281 GO_process GO:0051402 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051402 GO_process GO:0051881 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051881 GO_process GO:0060011 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060011 GO_process GO:0060041 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060041 GO_process GO:0060058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060058 GO_process GO:0060068 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060068 GO_process GO:0070059 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070059 GO_process GO:0070242 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070242 GO_process GO:0070584 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070584 GO_process GO:0072332 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0072332 GO_process GO:0090200 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090200 GO_process GO:0097190 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097190 GO_process GO:0097191 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097191 GO_process GO:0097192 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097192 GO_process GO:0097193 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097193 GO_process GO:0097296 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097296 GO_process GO:1900103 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1900103 GO_process GO:1901030 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1901030 GO_process GO:1902262 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902262 GO_process GO:1902263 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902263 GO_process GO:1902445 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902445 GO_process GO:1902512 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902512 GO_process GO:1903896 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903896 GO_process GO:1990117 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1990117 GO_process GO:2001234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2001234 GO_process GO:2001241 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2001241 GO_process GO:2001244 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2001244 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_component GO:0005635 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005635 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0008289 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008289 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0002376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002376 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006629 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006629 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007005 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007005 GOslim_process GO:0007155 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007155 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0008219 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008219 GOslim_process GO:0008283 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008283 GOslim_process GO:0030154 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030154 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0044403 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044403 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0048870 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048870 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GOslim_process GO:0061024 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061024 GeneCards BAX http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=BAX GeneID 581 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=581 GeneTree ENSGT00730000111112 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00730000111112 HGNC HGNC:959 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:959 HOVERGEN HBG003606 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG003606&db=HOVERGEN HPA CAB004206 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB004206 HPA HPA027878 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA027878 InParanoid Q07812 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q07812 IntAct Q07812 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q07812* InterPro IPR002475 http://www.ebi.ac.uk/interpro/entry/IPR002475 InterPro IPR020717 http://www.ebi.ac.uk/interpro/entry/IPR020717 InterPro IPR020726 http://www.ebi.ac.uk/interpro/entry/IPR020726 InterPro IPR020728 http://www.ebi.ac.uk/interpro/entry/IPR020728 InterPro IPR026298 http://www.ebi.ac.uk/interpro/entry/IPR026298 InterPro IPR026304 http://www.ebi.ac.uk/interpro/entry/IPR026304 Jabion 581 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=581 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Disease H00020 http://www.genome.jp/dbget-bin/www_bget?H00020 KEGG_Gene hsa:581 http://www.genome.jp/dbget-bin/www_bget?hsa:581 KEGG_Orthology KO:K02159 http://www.genome.jp/dbget-bin/www_bget?KO:K02159 KEGG_Pathway ko04115 http://www.genome.jp/kegg-bin/show_pathway?ko04115 KEGG_Pathway ko04141 http://www.genome.jp/kegg-bin/show_pathway?ko04141 KEGG_Pathway ko04210 http://www.genome.jp/kegg-bin/show_pathway?ko04210 KEGG_Pathway ko04722 http://www.genome.jp/kegg-bin/show_pathway?ko04722 KEGG_Pathway ko05014 http://www.genome.jp/kegg-bin/show_pathway?ko05014 KEGG_Pathway ko05016 http://www.genome.jp/kegg-bin/show_pathway?ko05016 KEGG_Pathway ko05020 http://www.genome.jp/kegg-bin/show_pathway?ko05020 KEGG_Pathway ko05152 http://www.genome.jp/kegg-bin/show_pathway?ko05152 KEGG_Pathway ko05161 http://www.genome.jp/kegg-bin/show_pathway?ko05161 KEGG_Pathway ko05166 http://www.genome.jp/kegg-bin/show_pathway?ko05166 KEGG_Pathway ko05200 http://www.genome.jp/kegg-bin/show_pathway?ko05200 KEGG_Pathway ko05203 http://www.genome.jp/kegg-bin/show_pathway?ko05203 KEGG_Pathway ko05210 http://www.genome.jp/kegg-bin/show_pathway?ko05210 MIM 600040 http://www.ncbi.nlm.nih.gov/omim/600040 MINT MINT-134330 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-134330 OMA TIINWTI http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=TIINWTI OrthoDB EOG091G0YWR http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0YWR PANTHER PTHR11256 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11256 PANTHER PTHR11256:SF44 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11256:SF44 PDB 1F16 http://www.ebi.ac.uk/pdbe-srv/view/entry/1F16 PDB 2G5B http://www.ebi.ac.uk/pdbe-srv/view/entry/2G5B PDB 2K7W http://www.ebi.ac.uk/pdbe-srv/view/entry/2K7W PDB 2LR1 http://www.ebi.ac.uk/pdbe-srv/view/entry/2LR1 PDB 3PK1 http://www.ebi.ac.uk/pdbe-srv/view/entry/3PK1 PDB 3PL7 http://www.ebi.ac.uk/pdbe-srv/view/entry/3PL7 PDB 4BD2 http://www.ebi.ac.uk/pdbe-srv/view/entry/4BD2 PDB 4BD6 http://www.ebi.ac.uk/pdbe-srv/view/entry/4BD6 PDB 4BD7 http://www.ebi.ac.uk/pdbe-srv/view/entry/4BD7 PDB 4BD8 http://www.ebi.ac.uk/pdbe-srv/view/entry/4BD8 PDB 4BDU http://www.ebi.ac.uk/pdbe-srv/view/entry/4BDU PDB 4S0O http://www.ebi.ac.uk/pdbe-srv/view/entry/4S0O PDB 4S0P http://www.ebi.ac.uk/pdbe-srv/view/entry/4S0P PDB 4UF2 http://www.ebi.ac.uk/pdbe-srv/view/entry/4UF2 PDB 4ZIE http://www.ebi.ac.uk/pdbe-srv/view/entry/4ZIE PDB 4ZIF http://www.ebi.ac.uk/pdbe-srv/view/entry/4ZIF PDB 4ZIG http://www.ebi.ac.uk/pdbe-srv/view/entry/4ZIG PDB 4ZIH http://www.ebi.ac.uk/pdbe-srv/view/entry/4ZIH PDB 4ZII http://www.ebi.ac.uk/pdbe-srv/view/entry/4ZII PDBsum 1F16 http://www.ebi.ac.uk/pdbsum/1F16 PDBsum 2G5B http://www.ebi.ac.uk/pdbsum/2G5B PDBsum 2K7W http://www.ebi.ac.uk/pdbsum/2K7W PDBsum 2LR1 http://www.ebi.ac.uk/pdbsum/2LR1 PDBsum 3PK1 http://www.ebi.ac.uk/pdbsum/3PK1 PDBsum 3PL7 http://www.ebi.ac.uk/pdbsum/3PL7 PDBsum 4BD2 http://www.ebi.ac.uk/pdbsum/4BD2 PDBsum 4BD6 http://www.ebi.ac.uk/pdbsum/4BD6 PDBsum 4BD7 http://www.ebi.ac.uk/pdbsum/4BD7 PDBsum 4BD8 http://www.ebi.ac.uk/pdbsum/4BD8 PDBsum 4BDU http://www.ebi.ac.uk/pdbsum/4BDU PDBsum 4S0O http://www.ebi.ac.uk/pdbsum/4S0O PDBsum 4S0P http://www.ebi.ac.uk/pdbsum/4S0P PDBsum 4UF2 http://www.ebi.ac.uk/pdbsum/4UF2 PDBsum 4ZIE http://www.ebi.ac.uk/pdbsum/4ZIE PDBsum 4ZIF http://www.ebi.ac.uk/pdbsum/4ZIF PDBsum 4ZIG http://www.ebi.ac.uk/pdbsum/4ZIG PDBsum 4ZIH http://www.ebi.ac.uk/pdbsum/4ZIH PDBsum 4ZII http://www.ebi.ac.uk/pdbsum/4ZII PRINTS PR01862 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01862 PROSITE PS01080 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS01080 PROSITE PS01258 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS01258 PROSITE PS01259 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS01259 PROSITE PS50062 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50062 PSORT swissprot:BAX_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:BAX_HUMAN PSORT-B swissprot:BAX_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:BAX_HUMAN PSORT2 swissprot:BAX_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:BAX_HUMAN Pfam PF00452 http://pfam.xfam.org/family/PF00452 PharmGKB PA25269 http://www.pharmgkb.org/do/serve?objId=PA25269&objCls=Gene Phobius swissprot:BAX_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:BAX_HUMAN PhylomeDB Q07812 http://phylomedb.org/?seqid=Q07812 ProteinModelPortal Q07812 http://www.proteinmodelportal.org/query/uniprot/Q07812 PubMed 10228148 http://www.ncbi.nlm.nih.gov/pubmed/10228148 PubMed 10772918 http://www.ncbi.nlm.nih.gov/pubmed/10772918 PubMed 11106734 http://www.ncbi.nlm.nih.gov/pubmed/11106734 PubMed 11259440 http://www.ncbi.nlm.nih.gov/pubmed/11259440 PubMed 11912183 http://www.ncbi.nlm.nih.gov/pubmed/11912183 PubMed 12732850 http://www.ncbi.nlm.nih.gov/pubmed/12732850 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15004026 http://www.ncbi.nlm.nih.gov/pubmed/15004026 PubMed 15004034 http://www.ncbi.nlm.nih.gov/pubmed/15004034 PubMed 15071501 http://www.ncbi.nlm.nih.gov/pubmed/15071501 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16113678 http://www.ncbi.nlm.nih.gov/pubmed/16113678 PubMed 16946732 http://www.ncbi.nlm.nih.gov/pubmed/16946732 PubMed 16964429 http://www.ncbi.nlm.nih.gov/pubmed/16964429 PubMed 18948948 http://www.ncbi.nlm.nih.gov/pubmed/18948948 PubMed 19413330 http://www.ncbi.nlm.nih.gov/pubmed/19413330 PubMed 20300062 http://www.ncbi.nlm.nih.gov/pubmed/20300062 PubMed 21199865 http://www.ncbi.nlm.nih.gov/pubmed/21199865 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 23055042 http://www.ncbi.nlm.nih.gov/pubmed/23055042 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 7475270 http://www.ncbi.nlm.nih.gov/pubmed/7475270 PubMed 7607685 http://www.ncbi.nlm.nih.gov/pubmed/7607685 PubMed 8358790 http://www.ncbi.nlm.nih.gov/pubmed/8358790 PubMed 8521816 http://www.ncbi.nlm.nih.gov/pubmed/8521816 PubMed 9531611 http://www.ncbi.nlm.nih.gov/pubmed/9531611 PubMed 9920818 http://www.ncbi.nlm.nih.gov/pubmed/9920818 Reactome R-HSA-114294 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-114294 Reactome R-HSA-6803204 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6803204 Reactome R-HSA-6804114 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6804114 RefSeq NP_001278357 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001278357 RefSeq NP_001278360 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001278360 RefSeq NP_004315 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004315 RefSeq NP_620116 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_620116 RefSeq NP_620118 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_620118 RefSeq NP_620119 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_620119 RefSeq XP_016882566 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016882566 SMR Q07812 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q07812 STRING 9606.ENSP00000293288 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000293288&targetmode=cogs TCDB 1.A.21.1 http://www.tcdb.org/search/result.php?tc=1.A.21.1 UCSC uc002plf http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002plf&org=rat UniGene Hs.624291 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.624291 UniProtKB BAX_HUMAN http://www.uniprot.org/uniprot/BAX_HUMAN UniProtKB-AC Q07812 http://www.uniprot.org/uniprot/Q07812 charge swissprot:BAX_HUMAN http://rest.g-language.org/emboss/charge/swissprot:BAX_HUMAN eggNOG ENOG410IWQJ http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IWQJ eggNOG ENOG4112738 http://eggnogapi.embl.de/nog_data/html/tree/ENOG4112738 epestfind swissprot:BAX_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:BAX_HUMAN garnier swissprot:BAX_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:BAX_HUMAN helixturnhelix swissprot:BAX_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:BAX_HUMAN hmoment swissprot:BAX_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:BAX_HUMAN iep swissprot:BAX_HUMAN http://rest.g-language.org/emboss/iep/swissprot:BAX_HUMAN inforesidue swissprot:BAX_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:BAX_HUMAN neXtProt NX_Q07812 http://www.nextprot.org/db/entry/NX_Q07812 octanol swissprot:BAX_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:BAX_HUMAN pepcoil swissprot:BAX_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:BAX_HUMAN pepdigest swissprot:BAX_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:BAX_HUMAN pepinfo swissprot:BAX_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:BAX_HUMAN pepnet swissprot:BAX_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:BAX_HUMAN pepstats swissprot:BAX_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:BAX_HUMAN pepwheel swissprot:BAX_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:BAX_HUMAN pepwindow swissprot:BAX_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:BAX_HUMAN sigcleave swissprot:BAX_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:BAX_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S35B2_HUMAN Event=Alternative splicing; Named isoforms=5; Name=1; IsoId=Q8TB61-1; Sequence=Displayed; Name=2; IsoId=Q8TB61-2; Sequence=VSP_014084; Name=3; IsoId=Q8TB61-3; Sequence=VSP_026949; Note=No experimental confirmation available.; Name=4; IsoId=Q8TB61-4; Sequence=VSP_054696, VSP_054697; Note=No experimental confirmation available.; Name=5; IsoId=Q8TB61-5; Sequence=VSP_057436; Note=No experimental confirmation available.; # AltName S35B2_HUMAN PAPS transporter 1 # AltName S35B2_HUMAN Putative MAPK-activating protein PM15 # AltName S35B2_HUMAN Putative NF-kappa-B-activating protein 48 # AltName S35B2_HUMAN Solute carrier family 35 member B2 # BIOPHYSICOCHEMICAL PROPERTIES Kinetic parameters: KM=0.8 uM for PAPS {ECO 0000269|PubMed:12716889}; # BioGrid 131484 26 # CCDS CCDS34462 -. [Q8TB61-1] # CCDS CCDS69127 -. [Q8TB61-4] # CCDS CCDS75462 -. [Q8TB61-5] # CCDS CCDS75463 -. [Q8TB61-3] # ChiTaRS SLC35B2 human # Ensembl ENST00000393812 ENSP00000377401; ENSG00000157593. [Q8TB61-1] # Ensembl ENST00000537814 ENSP00000440340; ENSG00000157593. [Q8TB61-5] # Ensembl ENST00000538577 ENSP00000443845; ENSG00000157593. [Q8TB61-4] # Ensembl ENST00000615337 ENSP00000480681; ENSG00000157593. [Q8TB61-3] # Ensembl ENST00000619636 ENSP00000483181; ENSG00000157593. [Q8TB61-3] # ExpressionAtlas Q8TB61 baseline and differential # FUNCTION S35B2_HUMAN Mediates the transport of adenosine 3'-phospho 5'- phosphosulfate (PAPS), from cytosol into Golgi. PAPS is a universal sulfuryl donor for sulfation events that take place in the Golgi. May indirectly participate in activation of the NF- kappa-B and MAPK pathways. {ECO 0000269|PubMed 12716889}. # GO_component GO:0000139 Golgi membrane; TAS:Reactome. # GO_component GO:0005794 Golgi apparatus; IDA:UniProtKB. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; NAS:UniProtKB. # GO_component GO:0030173 integral component of Golgi membrane; IBA:GO_Central. # GO_component GO:0030176 integral component of endoplasmic reticulum membrane; IBA:GO_Central. # GO_function GO:0004871 signal transducer activity; IMP:UniProtKB. # GO_function GO:0046964 3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity; IDA:UniProtKB. # GO_process GO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling; IMP:UniProtKB. # GO_process GO:0046963 3'-phosphoadenosine 5'-phosphosulfate transport; IDA:UniProtKB. # GO_process GO:0050428 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005794 Golgi apparatus # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006790 sulfur compound metabolic process # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0044281 small molecule metabolic process # Genevisible Q8TB61 HS # HGNC HGNC:16872 SLC35B2 # IntAct Q8TB61 7 # InterPro IPR013657 UAA # KEGG_Brite ko02001 Solute carrier family # MIM 610788 gene # Organism S35B2_HUMAN Homo sapiens (Human) # Pfam PF08449 UAA # Proteomes UP000005640 Chromosome 6 # Reactome R-HSA-174362 Transport and synthesis of PAPS # Reactome R-HSA-727802 Transport of nucleotide sugars # RecName S35B2_HUMAN Adenosine 3'-phospho 5'-phosphosulfate transporter 1 # RefSeq NP_001273438 NM_001286509.1 # RefSeq NP_001273439 NM_001286510.1 # RefSeq NP_001273440 NM_001286511.1. [Q8TB61-3] # RefSeq NP_001273441 NM_001286512.1. [Q8TB61-3] # RefSeq NP_001273442 NM_001286513.1. [Q8TB61-4] # RefSeq NP_001273446 NM_001286517.1 # RefSeq NP_001273448 NM_001286519.1. [Q8TB61-5] # RefSeq NP_001273449 NM_001286520.1. [Q8TB61-5] # RefSeq NP_835361 NM_178148.3. [Q8TB61-1] # SEQUENCE CAUTION Sequence=CAI20100.2; Type=Erroneous gene model prediction; Evidence={ECO 0000305}; # SIMILARITY Belongs to the nucleotide-sugar transporter family. SLC35B subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION S35B2_HUMAN Golgi apparatus membrane {ECO 0000269|PubMed 12716889}; Multi-pass membrane protein {ECO 0000269|PubMed 12716889}. # TCDB 2.A.7.11 the drug/metabolite transporter (dmt) superfamily # TISSUE SPECIFICITY Highly expressed in the placenta, pancreas, mammary gland and skeletal muscle. Weakly or not expressed in colon, heart and prostate. {ECO:0000269|PubMed 12716889}. # UCSC uc003oxd human. [Q8TB61-1] # UCSC uc011dvu human # eggNOG COG0697 LUCA # eggNOG KOG1581 Eukaryota BLAST swissprot:S35B2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S35B2_HUMAN BioCyc ZFISH:ENSG00000157593-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000157593-MONOMER COXPRESdb 347734 http://coxpresdb.jp/data/gene/347734.shtml CleanEx HS_SLC35B2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC35B2 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1016/j.molcel.2008.07.007 http://dx.doi.org/10.1016/j.molcel.2008.07.007 DOI 10.1021/ac9004309 http://dx.doi.org/10.1021/ac9004309 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature02055 http://dx.doi.org/10.1038/nature02055 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1038/sj.onc.1206406 http://dx.doi.org/10.1038/sj.onc.1206406 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1074/jbc.M302439200 http://dx.doi.org/10.1074/jbc.M302439200 DOI 10.1093/dnares/12.2.117 http://dx.doi.org/10.1093/dnares/12.2.117 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AB097021 http://www.ebi.ac.uk/ena/data/view/AB097021 EMBL AB097039 http://www.ebi.ac.uk/ena/data/view/AB097039 EMBL AB106538 http://www.ebi.ac.uk/ena/data/view/AB106538 EMBL AK075456 http://www.ebi.ac.uk/ena/data/view/AK075456 EMBL AK223028 http://www.ebi.ac.uk/ena/data/view/AK223028 EMBL AK293251 http://www.ebi.ac.uk/ena/data/view/AK293251 EMBL AK293344 http://www.ebi.ac.uk/ena/data/view/AK293344 EMBL AL139392 http://www.ebi.ac.uk/ena/data/view/AL139392 EMBL AL139392 http://www.ebi.ac.uk/ena/data/view/AL139392 EMBL AY491520 http://www.ebi.ac.uk/ena/data/view/AY491520 EMBL BC016839 http://www.ebi.ac.uk/ena/data/view/BC016839 EMBL BC024288 http://www.ebi.ac.uk/ena/data/view/BC024288 Ensembl ENST00000393812 http://www.ensembl.org/id/ENST00000393812 Ensembl ENST00000537814 http://www.ensembl.org/id/ENST00000537814 Ensembl ENST00000538577 http://www.ensembl.org/id/ENST00000538577 Ensembl ENST00000615337 http://www.ensembl.org/id/ENST00000615337 Ensembl ENST00000619636 http://www.ensembl.org/id/ENST00000619636 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000139 GO_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0030173 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030173 GO_component GO:0030176 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030176 GO_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GO_function GO:0046964 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046964 GO_process GO:0043123 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043123 GO_process GO:0046963 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046963 GO_process GO:0050428 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050428 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006790 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006790 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GeneCards SLC35B2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC35B2 GeneID 347734 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=347734 GeneTree ENSGT00530000063090 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000063090 HGNC HGNC:16872 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:16872 HOVERGEN HBG062347 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG062347&db=HOVERGEN HPA HPA029638 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA029638 IntAct Q8TB61 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q8TB61* InterPro IPR013657 http://www.ebi.ac.uk/interpro/entry/IPR013657 Jabion 347734 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=347734 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:347734 http://www.genome.jp/dbget-bin/www_bget?hsa:347734 KEGG_Orthology KO:K15276 http://www.genome.jp/dbget-bin/www_bget?KO:K15276 MIM 610788 http://www.ncbi.nlm.nih.gov/omim/610788 OMA YEYYEYV http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=YEYYEYV OrthoDB EOG091G07O2 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G07O2 PSORT swissprot:S35B2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S35B2_HUMAN PSORT-B swissprot:S35B2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S35B2_HUMAN PSORT2 swissprot:S35B2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S35B2_HUMAN Pfam PF08449 http://pfam.xfam.org/family/PF08449 PharmGKB PA134927864 http://www.pharmgkb.org/do/serve?objId=PA134927864&objCls=Gene Phobius swissprot:S35B2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S35B2_HUMAN PhylomeDB Q8TB61 http://phylomedb.org/?seqid=Q8TB61 ProteinModelPortal Q8TB61 http://www.proteinmodelportal.org/query/uniprot/Q8TB61 PubMed 12716889 http://www.ncbi.nlm.nih.gov/pubmed/12716889 PubMed 12761501 http://www.ncbi.nlm.nih.gov/pubmed/12761501 PubMed 14574404 http://www.ncbi.nlm.nih.gov/pubmed/14574404 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16303743 http://www.ncbi.nlm.nih.gov/pubmed/16303743 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 18691976 http://www.ncbi.nlm.nih.gov/pubmed/18691976 PubMed 19413330 http://www.ncbi.nlm.nih.gov/pubmed/19413330 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 Reactome R-HSA-174362 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-174362 Reactome R-HSA-727802 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-727802 RefSeq NP_001273438 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001273438 RefSeq NP_001273439 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001273439 RefSeq NP_001273440 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001273440 RefSeq NP_001273441 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001273441 RefSeq NP_001273442 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001273442 RefSeq NP_001273446 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001273446 RefSeq NP_001273448 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001273448 RefSeq NP_001273449 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001273449 RefSeq NP_835361 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_835361 STRING 9606.ENSP00000377401 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000377401&targetmode=cogs TCDB 2.A.7.11 http://www.tcdb.org/search/result.php?tc=2.A.7.11 UCSC uc003oxd http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003oxd&org=rat UCSC uc011dvu http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc011dvu&org=rat UniGene Hs.182885 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.182885 UniProtKB S35B2_HUMAN http://www.uniprot.org/uniprot/S35B2_HUMAN UniProtKB-AC Q8TB61 http://www.uniprot.org/uniprot/Q8TB61 charge swissprot:S35B2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S35B2_HUMAN eggNOG COG0697 http://eggnogapi.embl.de/nog_data/html/tree/COG0697 eggNOG KOG1581 http://eggnogapi.embl.de/nog_data/html/tree/KOG1581 epestfind swissprot:S35B2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S35B2_HUMAN garnier swissprot:S35B2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S35B2_HUMAN helixturnhelix swissprot:S35B2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S35B2_HUMAN hmoment swissprot:S35B2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S35B2_HUMAN iep swissprot:S35B2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S35B2_HUMAN inforesidue swissprot:S35B2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S35B2_HUMAN neXtProt NX_Q8TB61 http://www.nextprot.org/db/entry/NX_Q8TB61 octanol swissprot:S35B2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S35B2_HUMAN pepcoil swissprot:S35B2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S35B2_HUMAN pepdigest swissprot:S35B2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S35B2_HUMAN pepinfo swissprot:S35B2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S35B2_HUMAN pepnet swissprot:S35B2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S35B2_HUMAN pepstats swissprot:S35B2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S35B2_HUMAN pepwheel swissprot:S35B2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S35B2_HUMAN pepwindow swissprot:S35B2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S35B2_HUMAN sigcleave swissprot:S35B2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S35B2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS GPM6A_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=P51674-1; Sequence=Displayed; Name=2; IsoId=P51674-2; Sequence=VSP_045109; Name=3; IsoId=P51674-3; Sequence=VSP_046098; Note=No experimental confirmation available.; # BioGrid 109084 33 # CCDS CCDS3824 -. [P51674-1] # CCDS CCDS54822 -. [P51674-3] # CCDS CCDS58936 -. [P51674-2] # ChiTaRS GPM6A human # Ensembl ENST00000280187 ENSP00000280187; ENSG00000150625. [P51674-1] # Ensembl ENST00000393658 ENSP00000377268; ENSG00000150625. [P51674-1] # Ensembl ENST00000506894 ENSP00000421578; ENSG00000150625. [P51674-3] # Ensembl ENST00000515090 ENSP00000423984; ENSG00000150625. [P51674-2] # ExpressionAtlas P51674 baseline and differential # FUNCTION GPM6A_HUMAN Involved in neuronal differentiation, including differentiation and migration of neuronal stem cells. Plays a role in neuronal plasticity and is involved in neurite and filopodia outgrowth, filopodia motility and probably synapse formation. GPM6A-induced filopodia formation involves mitogen-activated protein kinase (MAPK) and Src signaling pathways. May be involved in neuronal NGF-dependent Ca(2+) influx. May be involved in regulation of endocytosis and intracellular trafficking of G- protein-coupled receptors (GPCRs); enhances internalization and recycling of mu-type opioid receptor. {ECO 0000269|PubMed 19298174}. # GO_component GO:0005886 plasma membrane; ISS:UniProtKB. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0030175 filopodium; ISS:UniProtKB. # GO_component GO:0043005 neuron projection; ISS:UniProtKB. # GO_component GO:0043025 neuronal cell body; ISS:UniProtKB. # GO_component GO:0043197 dendritic spine; IEA:UniProtKB-SubCell. # GO_component GO:0044295 axonal growth cone; ISS:UniProtKB. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_component GO:1903561 extracellular vesicle; IDA:UniProtKB. # GO_function GO:0005262 calcium channel activity; IEA:Ensembl. # GO_process GO:0001764 neuron migration; IDA:UniProtKB. # GO_process GO:0003407 neural retina development; ISS:UniProtKB. # GO_process GO:0007416 synapse assembly; ISS:UniProtKB. # GO_process GO:0048812 neuron projection morphogenesis; ISS:UniProtKB. # GO_process GO:0048863 stem cell differentiation; IDA:UniProtKB. # GO_process GO:0051491 positive regulation of filopodium assembly; ISS:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0008150 biological_process # GOslim_process GO:0022607 cellular component assembly # GOslim_process GO:0030154 cell differentiation # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0048870 cell motility # Genevisible P51674 HS # HGNC HGNC:4460 GPM6A # INTERACTION GPM6A_HUMAN Q8IUH5 ZDHHC17; NbExp=5; IntAct=EBI-7187133, EBI-524753; # IntAct P51674 3 # InterPro IPR001614 Myelin_PLP # InterPro IPR018237 Myelin_PLP_CS # MIM 601275 gene # Organism GPM6A_HUMAN Homo sapiens (Human) # PANTHER PTHR11683 PTHR11683 # PRINTS PR00214 MYELINPLP # PROSITE PS00575 MYELIN_PLP_1 # PROSITE PS01004 MYELIN_PLP_2 # Pfam PF01275 Myelin_PLP # Proteomes UP000005640 Chromosome 4 # RecName GPM6A_HUMAN Neuronal membrane glycoprotein M6-a # RefSeq NP_001248377 NM_001261448.1. [P51674-2] # RefSeq NP_005268 NM_005277.4. [P51674-1] # RefSeq NP_963885 NM_201591.2. [P51674-1] # RefSeq NP_963886 NM_201592.2. [P51674-3] # SIMILARITY Belongs to the myelin proteolipid protein family. {ECO 0000305}. # SMART SM00002 PLP # SUBCELLULAR LOCATION GPM6A_HUMAN Cell membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. Cell projection, axon {ECO 0000250}. Cell projection, dendritic spine {ECO 0000250}. Cell projection, filopodium {ECO 0000250}. Note=Localizes to cholesterol-rich lipid rafts of the plasma membrane of hippocampal neurons. Localized to plasma membrane of cell bodies and neurites of hippocampal neurons. Localized in membrane protrusions (filopodia and spines) of primary hippocampal neurons. Localized to the growth cone edge membrane of elongating axons (By similarity). {ECO 0000250}. # SUBUNIT Interacts with OPRM1. {ECO 0000250}. # UCSC uc003iuf human. [P51674-1] # eggNOG ENOG4110EPW LUCA # eggNOG KOG4800 Eukaryota BLAST swissprot:GPM6A_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:GPM6A_HUMAN BioCyc ZFISH:ENSG00000150625-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000150625-MONOMER COXPRESdb 2823 http://coxpresdb.jp/data/gene/2823.shtml CleanEx HS_GPM6A http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_GPM6A DOI 10.1006/geno.1996.0231 http://dx.doi.org/10.1006/geno.1996.0231 DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/mcp.M111.015131 http://dx.doi.org/10.1074/mcp.M111.015131 DOI 10.1089/scd.2008.0215 http://dx.doi.org/10.1089/scd.2008.0215 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AC093819 http://www.ebi.ac.uk/ena/data/view/AC093819 EMBL AC097537 http://www.ebi.ac.uk/ena/data/view/AC097537 EMBL AC110794 http://www.ebi.ac.uk/ena/data/view/AC110794 EMBL AK226176 http://www.ebi.ac.uk/ena/data/view/AK226176 EMBL AK299788 http://www.ebi.ac.uk/ena/data/view/AK299788 EMBL BC022508 http://www.ebi.ac.uk/ena/data/view/BC022508 EMBL BC022528 http://www.ebi.ac.uk/ena/data/view/BC022528 EMBL D49958 http://www.ebi.ac.uk/ena/data/view/D49958 EMBL U45956 http://www.ebi.ac.uk/ena/data/view/U45956 Ensembl ENST00000280187 http://www.ensembl.org/id/ENST00000280187 Ensembl ENST00000393658 http://www.ensembl.org/id/ENST00000393658 Ensembl ENST00000506894 http://www.ensembl.org/id/ENST00000506894 Ensembl ENST00000515090 http://www.ensembl.org/id/ENST00000515090 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0030175 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030175 GO_component GO:0043005 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043005 GO_component GO:0043025 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043025 GO_component GO:0043197 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043197 GO_component GO:0044295 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044295 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_component GO:1903561 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903561 GO_function GO:0005262 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005262 GO_process GO:0001764 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001764 GO_process GO:0003407 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003407 GO_process GO:0007416 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007416 GO_process GO:0048812 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048812 GO_process GO:0048863 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048863 GO_process GO:0051491 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051491 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0022607 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022607 GOslim_process GO:0030154 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030154 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0048870 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048870 GeneCards GPM6A http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=GPM6A GeneID 2823 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=2823 GeneTree ENSGT00390000006915 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000006915 HGNC HGNC:4460 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:4460 HOGENOM HOG000231338 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231338&db=HOGENOM6 HOVERGEN HBG000096 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG000096&db=HOVERGEN HPA HPA017338 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA017338 InParanoid P51674 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P51674 IntAct P51674 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P51674* InterPro IPR001614 http://www.ebi.ac.uk/interpro/entry/IPR001614 InterPro IPR018237 http://www.ebi.ac.uk/interpro/entry/IPR018237 Jabion 2823 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=2823 KEGG_Gene hsa:2823 http://www.genome.jp/dbget-bin/www_bget?hsa:2823 MIM 601275 http://www.ncbi.nlm.nih.gov/omim/601275 OMA EEKKVCT http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=EEKKVCT OrthoDB EOG091G0IM5 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0IM5 PANTHER PTHR11683 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11683 PRINTS PR00214 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00214 PROSITE PS00575 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00575 PROSITE PS01004 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS01004 PSORT swissprot:GPM6A_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:GPM6A_HUMAN PSORT-B swissprot:GPM6A_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:GPM6A_HUMAN PSORT2 swissprot:GPM6A_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:GPM6A_HUMAN Pfam PF01275 http://pfam.xfam.org/family/PF01275 PharmGKB PA28843 http://www.pharmgkb.org/do/serve?objId=PA28843&objCls=Gene Phobius swissprot:GPM6A_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:GPM6A_HUMAN PhylomeDB P51674 http://phylomedb.org/?seqid=P51674 ProteinModelPortal P51674 http://www.proteinmodelportal.org/query/uniprot/P51674 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 PubMed 19298174 http://www.ncbi.nlm.nih.gov/pubmed/19298174 PubMed 22223895 http://www.ncbi.nlm.nih.gov/pubmed/22223895 PubMed 8661015 http://www.ncbi.nlm.nih.gov/pubmed/8661015 PubMed 8893821 http://www.ncbi.nlm.nih.gov/pubmed/8893821 RefSeq NP_001248377 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001248377 RefSeq NP_005268 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_005268 RefSeq NP_963885 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_963885 RefSeq NP_963886 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_963886 SMART SM00002 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00002 STRING 9606.ENSP00000280187 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000280187&targetmode=cogs UCSC uc003iuf http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003iuf&org=rat UniGene Hs.75819 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.75819 UniProtKB GPM6A_HUMAN http://www.uniprot.org/uniprot/GPM6A_HUMAN UniProtKB-AC P51674 http://www.uniprot.org/uniprot/P51674 charge swissprot:GPM6A_HUMAN http://rest.g-language.org/emboss/charge/swissprot:GPM6A_HUMAN eggNOG ENOG4110EPW http://eggnogapi.embl.de/nog_data/html/tree/ENOG4110EPW eggNOG KOG4800 http://eggnogapi.embl.de/nog_data/html/tree/KOG4800 epestfind swissprot:GPM6A_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:GPM6A_HUMAN garnier swissprot:GPM6A_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:GPM6A_HUMAN helixturnhelix swissprot:GPM6A_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:GPM6A_HUMAN hmoment swissprot:GPM6A_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:GPM6A_HUMAN iep swissprot:GPM6A_HUMAN http://rest.g-language.org/emboss/iep/swissprot:GPM6A_HUMAN inforesidue swissprot:GPM6A_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:GPM6A_HUMAN neXtProt NX_P51674 http://www.nextprot.org/db/entry/NX_P51674 octanol swissprot:GPM6A_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:GPM6A_HUMAN pepcoil swissprot:GPM6A_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:GPM6A_HUMAN pepdigest swissprot:GPM6A_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:GPM6A_HUMAN pepinfo swissprot:GPM6A_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:GPM6A_HUMAN pepnet swissprot:GPM6A_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:GPM6A_HUMAN pepstats swissprot:GPM6A_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:GPM6A_HUMAN pepwheel swissprot:GPM6A_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:GPM6A_HUMAN pepwindow swissprot:GPM6A_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:GPM6A_HUMAN sigcleave swissprot:GPM6A_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:GPM6A_HUMAN ## Database ID URL or Descriptions # AltName ACATN_HUMAN Solute carrier family 33 member 1 # BioGrid 114632 58 # ChiTaRS SLC33A1 human # DISEASE ACATN_HUMAN Congenital cataracts, hearing loss, and neurodegeneration (CCHLND) [MIM 614482] An autosomal recessive disorder characterized by congenital cataracts, severe psychomotor retardation, and hearing loss associated with decreased serum ceruloplasmin and copper. Brain MRI shows cerebral and cerebellar atrophy and hypomyelination. {ECO 0000269|PubMed 22243965}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE ACATN_HUMAN Spastic paraplegia 42, autosomal dominant (SPG42) [MIM 612539] A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. {ECO 0000269|PubMed 19061983, ECO 0000269|PubMed 25402622}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000359479 ENSP00000352456; ENSG00000169359 # Ensembl ENST00000392845 ENSP00000376587; ENSG00000169359 # ExpressionAtlas O00400 baseline and differential # FUNCTION ACATN_HUMAN Probable acetyl-CoA transporter necessary for O- acetylation of gangliosides (PubMed 9096318). Negatively regulates BMP signaling (PubMed 25402622). {ECO 0000269|PubMed 25402622, ECO 0000269|PubMed 9096318}. # GO_component GO:0000139 Golgi membrane; TAS:Reactome. # GO_component GO:0005789 endoplasmic reticulum membrane; TAS:ProtInc. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_function ACATN_HUMAN GO 0015295 solute proton symporter activity; IBA GO_Central. # GO_function GO:0008521 acetyl-CoA transporter activity; TAS:Reactome. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0030509 BMP signaling pathway; IDA:UniProtKB. # GO_process GO:0055085 transmembrane transport; TAS:Reactome. # GO_process GO:0060395 SMAD protein signal transduction; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0055085 transmembrane transport # Genevisible O00400 HS # HGNC HGNC:95 SLC33A1 # IntAct O00400 58 # InterPro IPR004752 AmpG_permease/AT-1 # InterPro IPR020846 MFS_dom # InterPro IPR024371 Acetyl-CoA_trnpstr_1 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko01000 Enzymes # KEGG_Brite ko02000 Transporters # KEGG_Brite ko02001 Solute carrier family # KEGG_Disease H00266 [Nervous system disease; Muscular disease] Hereditary spastic paraplegia (SPG) # KEGG_Pathway ko00604 Glycosphingolipid biosynthesis - ganglio series # MIM 603690 gene # MIM 612539 phenotype # MIM 614482 phenotype # Organism ACATN_HUMAN Homo sapiens (Human) # Orphanet 171863 Autosomal dominant spastic paraplegia type 42 # Orphanet 300313 Congenital cataract-hearing loss-severe developmental delay syndrome # Pfam PF13000 Acatn; 2 # Proteomes UP000005640 Chromosome 3 # Reactome R-HSA-425397 Transport of vitamins, nucleosides, and related molecules # RecName ACATN_HUMAN Acetyl-coenzyme A transporter 1 # RefSeq NP_001177921 NM_001190992.1 # RefSeq NP_004724 NM_004733.3 # SIMILARITY Belongs to the SLC33A transporter family. {ECO 0000305}. # SUBCELLULAR LOCATION ACATN_HUMAN Endoplasmic reticulum membrane {ECO 0000305|PubMed 9096318}; Multi-pass membrane protein {ECO 0000305|PubMed 9096318}. # SUPFAM SSF103473 SSF103473; 2 # TCDB 2.A.1.25 the major facilitator superfamily (mfs) # TIGRFAMs TIGR00901 2A0125 # TISSUE SPECIFICITY Ubiquitous. Detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. With strongest signals in pancreas. {ECO:0000269|PubMed 9096318}. # UCSC uc003fan human # WEB RESOURCE ACATN_HUMAN Name=Mendelian genes solute carrier family 33 (acetyl-CoA transporter), member 1 (SLC33A1); Note=Leiden Open Variation Database (LOVD); URL="http //www.lovd.nl/SLC33A1"; # eggNOG COG0477 LUCA # eggNOG KOG3574 Eukaryota BLAST swissprot:ACATN_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ACATN_HUMAN BioCyc ZFISH:ENSG00000169359-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000169359-MONOMER COXPRESdb 9197 http://coxpresdb.jp/data/gene/9197.shtml CleanEx HS_SLC33A1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC33A1 DOI 10.1002/humu.22732 http://dx.doi.org/10.1002/humu.22732 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1016/j.ajhg.2008.11.003 http://dx.doi.org/10.1016/j.ajhg.2008.11.003 DOI 10.1016/j.ajhg.2011.11.030 http://dx.doi.org/10.1016/j.ajhg.2011.11.030 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.94.7.2897 http://dx.doi.org/10.1073/pnas.94.7.2897 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1133427 http://dx.doi.org/10.1126/science.1133427 EMBL AK312268 http://www.ebi.ac.uk/ena/data/view/AK312268 EMBL BC014416 http://www.ebi.ac.uk/ena/data/view/BC014416 EMBL CH471052 http://www.ebi.ac.uk/ena/data/view/CH471052 EMBL CH471052 http://www.ebi.ac.uk/ena/data/view/CH471052 EMBL D88152 http://www.ebi.ac.uk/ena/data/view/D88152 Ensembl ENST00000359479 http://www.ensembl.org/id/ENST00000359479 Ensembl ENST00000392845 http://www.ensembl.org/id/ENST00000392845 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000139 GO_component GO:0005789 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005789 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_function GO:0008521 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008521 GO_function GO:0015295 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015295 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0030509 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030509 GO_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GO_process GO:0060395 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060395 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC33A1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC33A1 GeneID 9197 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=9197 GeneTree ENSGT00730000111115 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00730000111115 HGNC HGNC:95 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:95 HOGENOM HOG000194770 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000194770&db=HOGENOM6 HOVERGEN HBG052723 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052723&db=HOVERGEN HPA HPA042430 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA042430 HPA HPA060345 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA060345 InParanoid O00400 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O00400 IntAct O00400 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O00400* InterPro IPR004752 http://www.ebi.ac.uk/interpro/entry/IPR004752 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 InterPro IPR024371 http://www.ebi.ac.uk/interpro/entry/IPR024371 Jabion 9197 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=9197 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Disease H00266 http://www.genome.jp/dbget-bin/www_bget?H00266 KEGG_Gene hsa:9197 http://www.genome.jp/dbget-bin/www_bget?hsa:9197 KEGG_Orthology KO:K03372 http://www.genome.jp/dbget-bin/www_bget?KO:K03372 KEGG_Pathway ko00604 http://www.genome.jp/kegg-bin/show_pathway?ko00604 MIM 603690 http://www.ncbi.nlm.nih.gov/omim/603690 MIM 612539 http://www.ncbi.nlm.nih.gov/omim/612539 MIM 614482 http://www.ncbi.nlm.nih.gov/omim/614482 OMA LWFWGIT http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=LWFWGIT Orphanet 171863 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=171863 Orphanet 300313 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=300313 OrthoDB EOG091G06Y7 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G06Y7 PSORT swissprot:ACATN_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ACATN_HUMAN PSORT-B swissprot:ACATN_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ACATN_HUMAN PSORT2 swissprot:ACATN_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ACATN_HUMAN Pfam PF13000 http://pfam.xfam.org/family/PF13000 PharmGKB PA24432 http://www.pharmgkb.org/do/serve?objId=PA24432&objCls=Gene Phobius swissprot:ACATN_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ACATN_HUMAN PhylomeDB O00400 http://phylomedb.org/?seqid=O00400 ProteinModelPortal O00400 http://www.proteinmodelportal.org/query/uniprot/O00400 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16959974 http://www.ncbi.nlm.nih.gov/pubmed/16959974 PubMed 19061983 http://www.ncbi.nlm.nih.gov/pubmed/19061983 PubMed 22243965 http://www.ncbi.nlm.nih.gov/pubmed/22243965 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 25402622 http://www.ncbi.nlm.nih.gov/pubmed/25402622 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 9096318 http://www.ncbi.nlm.nih.gov/pubmed/9096318 Reactome R-HSA-425397 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-425397 RefSeq NP_001177921 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001177921 RefSeq NP_004724 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004724 STRING 9606.ENSP00000352456 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000352456&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.1.25 http://www.tcdb.org/search/result.php?tc=2.A.1.25 TIGRFAMs TIGR00901 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00901 UCSC uc003fan http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003fan&org=rat UniGene Hs.478031 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.478031 UniProtKB ACATN_HUMAN http://www.uniprot.org/uniprot/ACATN_HUMAN UniProtKB-AC O00400 http://www.uniprot.org/uniprot/O00400 charge swissprot:ACATN_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ACATN_HUMAN eggNOG COG0477 http://eggnogapi.embl.de/nog_data/html/tree/COG0477 eggNOG KOG3574 http://eggnogapi.embl.de/nog_data/html/tree/KOG3574 epestfind swissprot:ACATN_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ACATN_HUMAN garnier swissprot:ACATN_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ACATN_HUMAN helixturnhelix swissprot:ACATN_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ACATN_HUMAN hmoment swissprot:ACATN_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ACATN_HUMAN iep swissprot:ACATN_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ACATN_HUMAN inforesidue swissprot:ACATN_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ACATN_HUMAN neXtProt NX_O00400 http://www.nextprot.org/db/entry/NX_O00400 octanol swissprot:ACATN_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ACATN_HUMAN pepcoil swissprot:ACATN_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ACATN_HUMAN pepdigest swissprot:ACATN_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ACATN_HUMAN pepinfo swissprot:ACATN_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ACATN_HUMAN pepnet swissprot:ACATN_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ACATN_HUMAN pepstats swissprot:ACATN_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ACATN_HUMAN pepwheel swissprot:ACATN_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ACATN_HUMAN pepwindow swissprot:ACATN_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ACATN_HUMAN sigcleave swissprot:ACATN_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ACATN_HUMAN ## Database ID URL or Descriptions # AltName KCJ12_HUMAN Inward rectifier K(+) channel Kir2.2 # AltName KCJ12_HUMAN Inward rectifier K(+) channel Kir2.2v # AltName KCJ12_HUMAN Potassium channel, inwardly rectifying subfamily J member 12 # BioGrid 109970 16 # ChiTaRS KCNJ12 human # DOMAIN KCJ12_HUMAN Phosphatidylinositol 4,5-bisphosphate binding to the cytoplasmic side of the channel triggers a conformation change leading to channel opening. {ECO 0000250}. # DrugBank DB00204 Dofetilide # DrugBank DB01392 Yohimbine # Ensembl ENST00000331718 ENSP00000328150; ENSG00000184185 # Ensembl ENST00000583088 ENSP00000463778; ENSG00000184185 # FUNCTION KCJ12_HUMAN Inward rectifying potassium channel that is activated by phosphatidylinositol 4,5-bisphosphate and that probably participates in controlling the resting membrane potential in electrically excitable cells. Probably participates in establishing action potential waveform and excitability of neuronal and muscle tissues. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. {ECO 0000269|PubMed 12417321, ECO 0000269|PubMed 20921230, ECO 0000269|PubMed 7859381, ECO 0000269|PubMed 8647284}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0031224 intrinsic component of membrane; IDA:UniProtKB. # GO_function GO:0005242 inward rectifier potassium channel activity; IDA:UniProtKB. # GO_function GO:0015467 G-protein activated inward rectifier potassium channel activity; TAS:Reactome. # GO_process GO:0006813 potassium ion transport; IDA:UniProtKB. # GO_process GO:0006936 muscle contraction; TAS:ProtInc. # GO_process GO:0008016 regulation of heart contraction; TAS:ProtInc. # GO_process GO:0010107 potassium ion import; IBA:GO_Central. # GO_process GO:0051289 protein homotetramerization; IDA:UniProtKB. # GO_process GO:0061337 cardiac conduction; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0055085 transmembrane transport # Gene3D 2.60.40.1400 -; 1. # Genevisible Q14500 HS # HGNC HGNC:6258 KCNJ12 # InterPro IPR003272 K_chnl_inward-rec_Kir2.2 # InterPro IPR013518 K_chnl_inward-rec_Kir_cyto # InterPro IPR013673 K_chnl_inward-rec_Kir_N # InterPro IPR014756 Ig_E-set # InterPro IPR016449 K_chnl_inward-rec_Kir # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04725 Cholinergic synapse # MIM 602323 gene # Organism KCJ12_HUMAN Homo sapiens (Human) # PANTHER PTHR11767 PTHR11767 # PANTHER PTHR11767:SF14 PTHR11767:SF14 # PIR I52864 I52864 # PIR S71341 S71341 # PRINTS PR01320 KIRCHANNEL # PRINTS PR01325 KIR22CHANNEL # Pfam PF01007 IRK # Pfam PF08466 IRK_N # Proteomes UP000005640 Chromosome 17 # Reactome R-HSA-1296041 Activation of G protein gated Potassium channels # Reactome R-HSA-1296053 Classical Kir channels # Reactome R-HSA-5576886 Phase 4 - resting membrane potential # Reactome R-HSA-997272 Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits # RecName KCJ12_HUMAN ATP-sensitive inward rectifier potassium channel 12 # RefSeq NP_066292 NM_021012.4 # RefSeq XP_005256682 XM_005256625.4 # RefSeq XP_011522133 XM_011523831.2 # SIMILARITY Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ12 subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION KCJ12_HUMAN Membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. # SUBUNIT Association, via its PDZ-recognition domain, with LIN7A, LIN7B, LIN7C, DLG1, CASK and APBA1 plays a key role in its localization and trafficking (By similarity). Homotetramer. Forms heteromer with KCNJ4. {ECO:0000250, ECO 0000269|PubMed:20921230}. # SUPFAM SSF81296 SSF81296 # TCDB 1.A.2.1 inward rectifier k(+) channel (irk-c) family # UCSC uc002gyv human # eggNOG ENOG410XQ62 LUCA # eggNOG KOG3827 Eukaryota BLAST swissprot:KCJ12_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCJ12_HUMAN BioCyc ZFISH:G66-31140-MONOMER http://biocyc.org/getid?id=ZFISH:G66-31140-MONOMER COXPRESdb 3768 http://coxpresdb.jp/data/gene/3768.shtml DOI 10.1016/0014-5793(96)00445-0 http://dx.doi.org/10.1016/0014-5793(96)00445-0 DOI 10.1016/S0014-5793(02)03512-3 http://dx.doi.org/10.1016/S0014-5793(02)03512-3 DOI 10.1073/pnas.102609499 http://dx.doi.org/10.1073/pnas.102609499 DOI 10.1074/jbc.273.3.1339 http://dx.doi.org/10.1074/jbc.273.3.1339 DOI 10.1074/jbc.C110.186692 http://dx.doi.org/10.1074/jbc.C110.186692 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1161/01.RES.76.3.343 http://dx.doi.org/10.1161/01.RES.76.3.343 DrugBank DB00204 http://www.drugbank.ca/drugs/DB00204 DrugBank DB01392 http://www.drugbank.ca/drugs/DB01392 EMBL AB074970 http://www.ebi.ac.uk/ena/data/view/AB074970 EMBL AB182123 http://www.ebi.ac.uk/ena/data/view/AB182123 EMBL AF005214 http://www.ebi.ac.uk/ena/data/view/AF005214 EMBL BC027982 http://www.ebi.ac.uk/ena/data/view/BC027982 EMBL L36069 http://www.ebi.ac.uk/ena/data/view/L36069 EMBL U53143 http://www.ebi.ac.uk/ena/data/view/U53143 Ensembl ENST00000331718 http://www.ensembl.org/id/ENST00000331718 Ensembl ENST00000583088 http://www.ensembl.org/id/ENST00000583088 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0031224 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031224 GO_function GO:0005242 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005242 GO_function GO:0015467 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015467 GO_process GO:0006813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006813 GO_process GO:0006936 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006936 GO_process GO:0008016 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008016 GO_process GO:0010107 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010107 GO_process GO:0051289 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051289 GO_process GO:0061337 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061337 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 2.60.40.1400 http://www.cathdb.info/version/latest/superfamily/2.60.40.1400 GeneCards KCNJ12 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNJ12 GeneID 3768 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=3768 GeneTree ENSGT00760000118842 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118842 HGNC HGNC:6258 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6258 HOGENOM HOG000237325 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000237325&db=HOGENOM6 HOVERGEN HBG006178 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG006178&db=HOVERGEN HPA HPA027021 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA027021 InParanoid Q14500 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q14500 InterPro IPR003272 http://www.ebi.ac.uk/interpro/entry/IPR003272 InterPro IPR013518 http://www.ebi.ac.uk/interpro/entry/IPR013518 InterPro IPR013673 http://www.ebi.ac.uk/interpro/entry/IPR013673 InterPro IPR014756 http://www.ebi.ac.uk/interpro/entry/IPR014756 InterPro IPR016449 http://www.ebi.ac.uk/interpro/entry/IPR016449 Jabion 3768 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=3768 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:3768 http://www.genome.jp/dbget-bin/www_bget?hsa:3768 KEGG_Orthology KO:K05005 http://www.genome.jp/dbget-bin/www_bget?KO:K05005 KEGG_Pathway ko04725 http://www.genome.jp/kegg-bin/show_pathway?ko04725 MIM 602323 http://www.ncbi.nlm.nih.gov/omim/602323 OMA TPCVLQV http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=TPCVLQV OrthoDB EOG091G08HC http://cegg.unige.ch/orthodb/results?searchtext=EOG091G08HC PANTHER PTHR11767 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11767 PANTHER PTHR11767:SF14 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11767:SF14 PRINTS PR01320 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01320 PRINTS PR01325 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01325 PSORT swissprot:KCJ12_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCJ12_HUMAN PSORT-B swissprot:KCJ12_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCJ12_HUMAN PSORT2 swissprot:KCJ12_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCJ12_HUMAN Pfam PF01007 http://pfam.xfam.org/family/PF01007 Pfam PF08466 http://pfam.xfam.org/family/PF08466 PharmGKB PA218 http://www.pharmgkb.org/do/serve?objId=PA218&objCls=Gene Phobius swissprot:KCJ12_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCJ12_HUMAN PhylomeDB Q14500 http://phylomedb.org/?seqid=Q14500 ProteinModelPortal Q14500 http://www.proteinmodelportal.org/query/uniprot/Q14500 PubMed 12032359 http://www.ncbi.nlm.nih.gov/pubmed/12032359 PubMed 12417321 http://www.ncbi.nlm.nih.gov/pubmed/12417321 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 20921230 http://www.ncbi.nlm.nih.gov/pubmed/20921230 PubMed 7859381 http://www.ncbi.nlm.nih.gov/pubmed/7859381 PubMed 8647284 http://www.ncbi.nlm.nih.gov/pubmed/8647284 PubMed 9430667 http://www.ncbi.nlm.nih.gov/pubmed/9430667 Reactome R-HSA-1296041 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1296041 Reactome R-HSA-1296053 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1296053 Reactome R-HSA-5576886 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576886 Reactome R-HSA-997272 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-997272 RefSeq NP_066292 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_066292 RefSeq XP_005256682 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005256682 RefSeq XP_011522133 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011522133 SMR Q14500 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q14500 STRING 9606.ENSP00000328150 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000328150&targetmode=cogs SUPFAM SSF81296 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81296 TCDB 1.A.2.1 http://www.tcdb.org/search/result.php?tc=1.A.2.1 UCSC uc002gyv http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002gyv&org=rat UniGene Hs.200629 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.200629 UniProtKB KCJ12_HUMAN http://www.uniprot.org/uniprot/KCJ12_HUMAN UniProtKB-AC Q14500 http://www.uniprot.org/uniprot/Q14500 charge swissprot:KCJ12_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCJ12_HUMAN eggNOG ENOG410XQ62 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XQ62 eggNOG KOG3827 http://eggnogapi.embl.de/nog_data/html/tree/KOG3827 epestfind swissprot:KCJ12_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCJ12_HUMAN garnier swissprot:KCJ12_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCJ12_HUMAN helixturnhelix swissprot:KCJ12_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCJ12_HUMAN hmoment swissprot:KCJ12_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCJ12_HUMAN iep swissprot:KCJ12_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCJ12_HUMAN inforesidue swissprot:KCJ12_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCJ12_HUMAN neXtProt NX_Q14500 http://www.nextprot.org/db/entry/NX_Q14500 octanol swissprot:KCJ12_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCJ12_HUMAN pepcoil swissprot:KCJ12_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCJ12_HUMAN pepdigest swissprot:KCJ12_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCJ12_HUMAN pepinfo swissprot:KCJ12_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCJ12_HUMAN pepnet swissprot:KCJ12_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCJ12_HUMAN pepstats swissprot:KCJ12_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCJ12_HUMAN pepwheel swissprot:KCJ12_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCJ12_HUMAN pepwindow swissprot:KCJ12_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCJ12_HUMAN sigcleave swissprot:KCJ12_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCJ12_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S13A3_HUMAN Event=Alternative splicing; Named isoforms=6; Name=1; IsoId=Q8WWT9-1; Sequence=Displayed; Name=2; IsoId=Q8WWT9-2; Sequence=VSP_006123, VSP_006124; Note=Gene prediction based on EST data.; Name=3; IsoId=Q8WWT9-3; Sequence=VSP_015291, VSP_015293; Note=No experimental confirmation available.; Name=4; IsoId=Q8WWT9-4; Sequence=VSP_015292, VSP_015294, VSP_015295; Note=No experimental confirmation available. Gene prediction based on EST data.; Name=5; IsoId=Q8WWT9-5; Sequence=VSP_015292; Note=No experimental confirmation available.; Name=6; IsoId=Q8WWT9-6; Sequence=VSP_015291; Note=No experimental confirmation available. Gene prediction based on EST data.; # AltName S13A3_HUMAN Na(+)/dicarboxylate cotransporter 3 # AltName S13A3_HUMAN Sodium-dependent high-affinity dicarboxylate transporter 2 # CCDS CCDS13400 -. [Q8WWT9-1] # CCDS CCDS42886 -. [Q8WWT9-6] # CCDS CCDS54469 -. [Q8WWT9-3] # CCDS CCDS54470 -. [Q8WWT9-5] # ChiTaRS SLC13A3 human # DrugBank DB00139 Succinic acid # Ensembl ENST00000279027 ENSP00000279027; ENSG00000158296. [Q8WWT9-1] # Ensembl ENST00000290317 ENSP00000290317; ENSG00000158296. [Q8WWT9-6] # Ensembl ENST00000413164 ENSP00000415852; ENSG00000158296. [Q8WWT9-5] # Ensembl ENST00000472148 ENSP00000420177; ENSG00000158296. [Q8WWT9-3] # Ensembl ENST00000495082 ENSP00000419621; ENSG00000158296. [Q8WWT9-6] # ExpressionAtlas Q8WWT9 baseline and differential # FUNCTION S13A3_HUMAN High-affinity sodium-dicarboxylate cotransporter that accepts a range of substrates with 4-5 carbon atoms. The stoichiometry is probably 3 Na(+) for 1 divalent succinate. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0015137 citrate transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015141 succinate transmembrane transporter activity; IBA:GO_Central. # GO_function S13A3_HUMAN GO 0015362 high-affinity sodium dicarboxylate symporter activity; TAS Reactome. # GO_function S13A3_HUMAN GO 0017153 sodium dicarboxylate symporter activity; IBA GO_Central. # GO_process GO:0015746 citrate transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # Genevisible Q8WWT9 HS # HGNC HGNC:14430 SLC13A3 # InterPro IPR001898 Na/sul_symport # KEGG_Brite ko02001 Solute carrier family # MIM 606411 gene # Organism S13A3_HUMAN Homo sapiens (Human) # Pfam PF00939 Na_sulph_symp # Proteomes UP000005640 Chromosome 20 # Reactome R-HSA-433137 Sodium-coupled sulphate, di- and tri-carboxylate transporters # RecName S13A3_HUMAN Solute carrier family 13 member 3 # RefSeq NP_001011554 NM_001011554.2. [Q8WWT9-6] # RefSeq NP_001180268 NM_001193339.1. [Q8WWT9-5] # RefSeq NP_001180269 NM_001193340.1. [Q8WWT9-3] # RefSeq NP_073740 NM_022829.5. [Q8WWT9-1] # SEQUENCE CAUTION Sequence=AAF73251.1; Type=Frameshift; Positions=188, 199; Evidence={ECO:0000305}; Sequence=CAC09447.2; Type=Miscellaneous discrepancy; Note=erroneous CDS prediction.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the SLC13A/DASS transporter (TC 2.A.47) family. NADC subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION S13A3_HUMAN Cell membrane {ECO 0000269|PubMed 17426067}; Multi-pass membrane protein {ECO 0000269|PubMed 17426067}. # TCDB 2.A.47.1.15:the divalent anion na(+) symporter (dass) family # TISSUE SPECIFICITY S13A3_HUMAN Expression is highest in kidney. Detected in placenta, brain, liver and pancreas. # UCSC uc002xsf human. [Q8WWT9-1] # eggNOG COG0471 LUCA # eggNOG KOG1281 Eukaryota BLAST swissprot:S13A3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S13A3_HUMAN BioCyc ZFISH:ENSG00000158296-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000158296-MONOMER COG COG0471 http://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=COG0471 COXPRESdb 64849 http://coxpresdb.jp/data/gene/64849.shtml DOI 10.1038/414865a http://dx.doi.org/10.1038/414865a DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1096/fj.06-7652com http://dx.doi.org/10.1096/fj.06-7652com DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 DrugBank DB00139 http://www.drugbank.ca/drugs/DB00139 EMBL AF154121 http://www.ebi.ac.uk/ena/data/view/AF154121 EMBL AK056713 http://www.ebi.ac.uk/ena/data/view/AK056713 EMBL AK096658 http://www.ebi.ac.uk/ena/data/view/AK096658 EMBL AK295748 http://www.ebi.ac.uk/ena/data/view/AK295748 EMBL AL034424 http://www.ebi.ac.uk/ena/data/view/AL034424 EMBL AL133520 http://www.ebi.ac.uk/ena/data/view/AL133520 EMBL AL442082 http://www.ebi.ac.uk/ena/data/view/AL442082 EMBL AY072810 http://www.ebi.ac.uk/ena/data/view/AY072810 EMBL BC035966 http://www.ebi.ac.uk/ena/data/view/BC035966 EMBL CH471077 http://www.ebi.ac.uk/ena/data/view/CH471077 EMBL CH471077 http://www.ebi.ac.uk/ena/data/view/CH471077 Ensembl ENST00000279027 http://www.ensembl.org/id/ENST00000279027 Ensembl ENST00000290317 http://www.ensembl.org/id/ENST00000290317 Ensembl ENST00000413164 http://www.ensembl.org/id/ENST00000413164 Ensembl ENST00000472148 http://www.ensembl.org/id/ENST00000472148 Ensembl ENST00000495082 http://www.ensembl.org/id/ENST00000495082 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0015137 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015137 GO_function GO:0015141 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015141 GO_function GO:0015362 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015362 GO_function GO:0017153 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0017153 GO_process GO:0015746 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015746 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GeneCards SLC13A3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC13A3 GeneID 64849 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=64849 GeneTree ENSGT00550000074480 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074480 HGNC HGNC:14430 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:14430 HOGENOM HOG000278432 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000278432&db=HOGENOM6 HOVERGEN HBG055339 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG055339&db=HOVERGEN HPA HPA014353 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA014353 HPA HPA014736 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA014736 InParanoid Q8WWT9 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8WWT9 InterPro IPR001898 http://www.ebi.ac.uk/interpro/entry/IPR001898 Jabion 64849 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=64849 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:64849 http://www.genome.jp/dbget-bin/www_bget?hsa:64849 KEGG_Orthology KO:K14445 http://www.genome.jp/dbget-bin/www_bget?KO:K14445 MIM 606411 http://www.ncbi.nlm.nih.gov/omim/606411 OMA VKPAWLI http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=VKPAWLI OrthoDB EOG091G092X http://cegg.unige.ch/orthodb/results?searchtext=EOG091G092X PSORT swissprot:S13A3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S13A3_HUMAN PSORT-B swissprot:S13A3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S13A3_HUMAN PSORT2 swissprot:S13A3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S13A3_HUMAN Pfam PF00939 http://pfam.xfam.org/family/PF00939 PharmGKB PA37881 http://www.pharmgkb.org/do/serve?objId=PA37881&objCls=Gene Phobius swissprot:S13A3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S13A3_HUMAN PhylomeDB Q8WWT9 http://phylomedb.org/?seqid=Q8WWT9 ProteinModelPortal Q8WWT9 http://www.proteinmodelportal.org/query/uniprot/Q8WWT9 PubMed 10794676 http://www.ncbi.nlm.nih.gov/pubmed/10794676 PubMed 11780052 http://www.ncbi.nlm.nih.gov/pubmed/11780052 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 17426067 http://www.ncbi.nlm.nih.gov/pubmed/17426067 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 Reactome R-HSA-433137 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-433137 RefSeq NP_001011554 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001011554 RefSeq NP_001180268 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001180268 RefSeq NP_001180269 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001180269 RefSeq NP_073740 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_073740 STRING 9606.ENSP00000279027 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000279027&targetmode=cogs STRING COG0471 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=COG0471&targetmode=cogs TCDB 2.A.47.1.15 http://www.tcdb.org/search/result.php?tc=2.A.47.1.15 UCSC uc002xsf http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002xsf&org=rat UniGene Hs.655498 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.655498 UniGene Hs.670365 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.670365 UniProtKB S13A3_HUMAN http://www.uniprot.org/uniprot/S13A3_HUMAN UniProtKB-AC Q8WWT9 http://www.uniprot.org/uniprot/Q8WWT9 charge swissprot:S13A3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S13A3_HUMAN eggNOG COG0471 http://eggnogapi.embl.de/nog_data/html/tree/COG0471 eggNOG KOG1281 http://eggnogapi.embl.de/nog_data/html/tree/KOG1281 epestfind swissprot:S13A3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S13A3_HUMAN garnier swissprot:S13A3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S13A3_HUMAN helixturnhelix swissprot:S13A3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S13A3_HUMAN hmoment swissprot:S13A3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S13A3_HUMAN iep swissprot:S13A3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S13A3_HUMAN inforesidue swissprot:S13A3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S13A3_HUMAN neXtProt NX_Q8WWT9 http://www.nextprot.org/db/entry/NX_Q8WWT9 octanol swissprot:S13A3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S13A3_HUMAN pepcoil swissprot:S13A3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S13A3_HUMAN pepdigest swissprot:S13A3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S13A3_HUMAN pepinfo swissprot:S13A3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S13A3_HUMAN pepnet swissprot:S13A3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S13A3_HUMAN pepstats swissprot:S13A3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S13A3_HUMAN pepwheel swissprot:S13A3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S13A3_HUMAN pepwindow swissprot:S13A3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S13A3_HUMAN sigcleave swissprot:S13A3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S13A3_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S15A4_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8N697-1; Sequence=Displayed; Name=2; IsoId=Q8N697-2; Sequence=VSP_034052; # AltName S15A4_HUMAN Peptide transporter 4 # AltName S15A4_HUMAN Peptide/histidine transporter 1 # BioGrid 125714 10 # CCDS CCDS9264 -. [Q8N697-1] # ChiTaRS SLC15A4 human # Ensembl ENST00000266771 ENSP00000266771; ENSG00000139370. [Q8N697-1] # ExpressionAtlas Q8N697 baseline and differential # FUNCTION S15A4_HUMAN Proton oligopeptide cotransporter. Transports free histidine and certain di- and tripeptides. {ECO 0000269|PubMed 16289537}. # GO_component GO:0005765 lysosomal membrane; TAS:Reactome. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function S15A4_HUMAN GO 0015333 peptide proton symporter activity; TAS Reactome. # GO_process GO:0006811 ion transport; TAS:Reactome. # GO_process GO:0006857 oligopeptide transport; IEA:InterPro. # GO_process GO:0015031 protein transport; IEA:UniProtKB-KW. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # Genevisible Q8N697 HS # HGNC HGNC:23090 SLC15A4 # InterPro IPR000109 POT_fam # InterPro IPR018456 PTR2_symporter_CS # InterPro IPR020846 MFS_dom # KEGG_Brite ko02001 Solute carrier family # MIM 615806 gene # Organism S15A4_HUMAN Homo sapiens (Human) # PANTHER PTHR11654 PTHR11654 # PROSITE PS01023 PTR2_2 # Pfam PF00854 PTR2 # Proteomes UP000005640 Chromosome 12 # Reactome R-HSA-427975 Proton/oligopeptide cotransporters # Reactome R-HSA-6798695 Neutrophil degranulation # RecName S15A4_HUMAN Solute carrier family 15 member 4 # RefSeq NP_663623 NM_145648.3. [Q8N697-1] # SEQUENCE CAUTION Sequence=AAI46804.1; Type=Frameshift; Positions=342; Evidence={ECO:0000305}; Sequence=AAK95565.1; Type=Frameshift; Positions=572; Evidence={ECO 0000305}; Sequence=AAQ04807.1; Type=Frameshift; Positions=497; Evidence={ECO:0000305}; # SIMILARITY Belongs to the PTR2/POT transporter (TC 2.A.17) family. {ECO 0000305}. # SUBCELLULAR LOCATION S15A4_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # SUPFAM SSF103473 SSF103473; 3 # TCDB 2.A.17.3.11 the proton-dependent oligopeptide transporter (pot/ptr) family # TISSUE SPECIFICITY S15A4_HUMAN Highly expressed in skeletal muscle. Moderately expressed in kidney, liver, and heart. Weakly expressed in colon and brain. Expressed in low levels throughout the gastrointestinal tract and in Caco-2 cells. Expressed in retinal fragment epithelium (RPE) and neural retina. Expressed in small intestine, stomach, duodenum, jejunum, ileum and colon. {ECO 0000269|PubMed 11741232, ECO 0000269|PubMed 11741260, ECO 0000269|PubMed 16289537}. # UCSC uc001uhu human. [Q8N697-1] # eggNOG COG3104 LUCA # eggNOG KOG1237 Eukaryota BLAST swissprot:S15A4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S15A4_HUMAN COXPRESdb 121260 http://coxpresdb.jp/data/gene/121260.shtml CleanEx HS_SLC15A4 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC15A4 DIP DIP-60839N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-60839N DOI 10.1016/j.ejps.2005.09.014 http://dx.doi.org/10.1016/j.ejps.2005.09.014 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.0404089101 http://dx.doi.org/10.1073/pnas.0404089101 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1208/ps020216 http://dx.doi.org/10.1208/ps020216 DOI 10.1208/ps030109 http://dx.doi.org/10.1208/ps030109 EMBL AF461893 http://www.ebi.ac.uk/ena/data/view/AF461893 EMBL AK095717 http://www.ebi.ac.uk/ena/data/view/AK095717 EMBL AY038999 http://www.ebi.ac.uk/ena/data/view/AY038999 EMBL AY050629 http://www.ebi.ac.uk/ena/data/view/AY050629 EMBL BC028394 http://www.ebi.ac.uk/ena/data/view/BC028394 EMBL BC146803 http://www.ebi.ac.uk/ena/data/view/BC146803 EMBL CH471054 http://www.ebi.ac.uk/ena/data/view/CH471054 Ensembl ENST00000266771 http://www.ensembl.org/id/ENST00000266771 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005765 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005765 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0015333 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015333 GO_process GO:0006811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006811 GO_process GO:0006857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006857 GO_process GO:0015031 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015031 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GeneCards SLC15A4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC15A4 GeneID 121260 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=121260 GeneTree ENSGT00530000062961 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000062961 HGNC HGNC:23090 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:23090 HOGENOM HOG000143436 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000143436&db=HOGENOM6 HOVERGEN HBG108431 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG108431&db=HOVERGEN HPA HPA016713 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA016713 InParanoid Q8N697 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8N697 IntAct Q8N697 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q8N697* InterPro IPR000109 http://www.ebi.ac.uk/interpro/entry/IPR000109 InterPro IPR018456 http://www.ebi.ac.uk/interpro/entry/IPR018456 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 121260 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=121260 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:121260 http://www.genome.jp/dbget-bin/www_bget?hsa:121260 KEGG_Orthology KO:K14638 http://www.genome.jp/dbget-bin/www_bget?KO:K14638 MIM 615806 http://www.ncbi.nlm.nih.gov/omim/615806 OMA MEGERAP http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=MEGERAP OrthoDB EOG091G0GF9 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0GF9 PANTHER PTHR11654 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11654 PROSITE PS01023 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS01023 PSORT swissprot:S15A4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S15A4_HUMAN PSORT-B swissprot:S15A4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S15A4_HUMAN PSORT2 swissprot:S15A4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S15A4_HUMAN Pfam PF00854 http://pfam.xfam.org/family/PF00854 PharmGKB PA134928948 http://www.pharmgkb.org/do/serve?objId=PA134928948&objCls=Gene Phobius swissprot:S15A4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S15A4_HUMAN PhylomeDB Q8N697 http://phylomedb.org/?seqid=Q8N697 ProteinModelPortal Q8N697 http://www.proteinmodelportal.org/query/uniprot/Q8N697 PubMed 11741232 http://www.ncbi.nlm.nih.gov/pubmed/11741232 PubMed 11741260 http://www.ncbi.nlm.nih.gov/pubmed/11741260 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15498874 http://www.ncbi.nlm.nih.gov/pubmed/15498874 PubMed 16289537 http://www.ncbi.nlm.nih.gov/pubmed/16289537 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 Reactome R-HSA-427975 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-427975 Reactome R-HSA-6798695 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6798695 RefSeq NP_663623 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_663623 STRING 9606.ENSP00000266771 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000266771&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.17.3.11 http://www.tcdb.org/search/result.php?tc=2.A.17.3.11 UCSC uc001uhu http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001uhu&org=rat UniGene Hs.507260 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.507260 UniProtKB S15A4_HUMAN http://www.uniprot.org/uniprot/S15A4_HUMAN UniProtKB-AC Q8N697 http://www.uniprot.org/uniprot/Q8N697 charge swissprot:S15A4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S15A4_HUMAN eggNOG COG3104 http://eggnogapi.embl.de/nog_data/html/tree/COG3104 eggNOG KOG1237 http://eggnogapi.embl.de/nog_data/html/tree/KOG1237 epestfind swissprot:S15A4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S15A4_HUMAN garnier swissprot:S15A4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S15A4_HUMAN helixturnhelix swissprot:S15A4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S15A4_HUMAN hmoment swissprot:S15A4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S15A4_HUMAN iep swissprot:S15A4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S15A4_HUMAN inforesidue swissprot:S15A4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S15A4_HUMAN neXtProt NX_Q8N697 http://www.nextprot.org/db/entry/NX_Q8N697 octanol swissprot:S15A4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S15A4_HUMAN pepcoil swissprot:S15A4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S15A4_HUMAN pepdigest swissprot:S15A4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S15A4_HUMAN pepinfo swissprot:S15A4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S15A4_HUMAN pepnet swissprot:S15A4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S15A4_HUMAN pepstats swissprot:S15A4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S15A4_HUMAN pepwheel swissprot:S15A4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S15A4_HUMAN pepwindow swissprot:S15A4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S15A4_HUMAN sigcleave swissprot:S15A4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S15A4_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS AQP4_HUMAN Event=Alternative splicing; Named isoforms=2; Name=2; IsoId=P55087-1; Sequence=Displayed; Name=1; IsoId=P55087-2; Sequence=VSP_003232; # AltName AQP4_HUMAN Mercurial-insensitive water channel # AltName AQP4_HUMAN WCH4 # BioGrid 106857 2 # CCDS CCDS11889 -. [P55087-1] # CCDS CCDS58617 -. [P55087-2] # CDD cd00333 MIP # ChiTaRS AQP4 human # DOMAIN AQP4_HUMAN Aquaporins contain two tandem repeats each containing three membrane-spanning domains and a pore-forming loop with the signature motif Asn-Pro-Ala (NPA). # Ensembl ENST00000383168 ENSP00000372654; ENSG00000171885. [P55087-1] # Ensembl ENST00000440832 ENSP00000393121; ENSG00000171885. [P55087-2] # Ensembl ENST00000581374 ENSP00000462597; ENSG00000171885. [P55087-2] # ExpressionAtlas P55087 baseline and differential # FUNCTION AQP4_HUMAN Forms a water-specific channel. Osmoreceptor which regulates body water balance and mediates water flow within the central nervous system. # GO_component GO:0005737 cytoplasm; IDA:UniProtKB. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0009897 external side of plasma membrane; IDA:UniProtKB. # GO_component GO:0016323 basolateral plasma membrane; IBA:GO_Central. # GO_function GO:0005372 water transmembrane transporter activity; TAS:ProtInc. # GO_function GO:0015250 water channel activity; EXP:Reactome. # GO_function GO:0015254 glycerol channel activity; IBA:GO_Central. # GO_process GO:0003091 renal water homeostasis; TAS:Reactome. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0006833 water transport; TAS:Reactome. # GO_process GO:0009992 cellular water homeostasis; IBA:GO_Central. # GO_process GO:0034220 ion transmembrane transport; IBA:GO_Central. # GO_process GO:0050891 multicellular organismal water homeostasis; IEP:UniProtKB. # GO_process GO:0071346 cellular response to interferon-gamma; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.20.1080.10 -; 1. # Genevisible P55087 HS # HGNC HGNC:637 AQP4 # InterPro IPR000425 MIP # InterPro IPR022357 MIP_CS # InterPro IPR023271 Aquaporin-like # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Disease H01491 [Nervous system disease; Immune system disease] Devic disease # KEGG_Pathway ko04962 Vasopressin-regulated water reabsorption # KEGG_Pathway ko04976 Bile secretion # MIM 600308 gene # Organism AQP4_HUMAN Homo sapiens (Human) # PANTHER PTHR19139 PTHR19139 # PDB 3GD8 X-ray; 1.80 A; A=32-254 # PIR I39178 I39178 # PRINTS PR00783 MINTRINSICP # PROSITE PS00221 MIP # PTM AQP4_HUMAN Phosphorylation by PKC at Ser-180 reduces conductance by 50%. Phosphorylation by PKG at Ser-111 in response to glutamats increases conductance by 40% (By similarity). {ECO 0000250}. # Pfam PF00230 MIP # Proteomes UP000005640 Chromosome 18 # Reactome R-HSA-432040 Vasopressin regulates renal water homeostasis via Aquaporins # Reactome R-HSA-432047 Passive transport by Aquaporins # RecName AQP4_HUMAN Aquaporin-4 # RefSeq NP_001641 NM_001650.5. [P55087-1] # RefSeq NP_004019 NM_004028.4. [P55087-2] # SEQUENCE CAUTION Sequence=AAC50284.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAC52112.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the MIP/aquaporin (TC 1.A.8) family. {ECO 0000305}. # SUBCELLULAR LOCATION AQP4_HUMAN Membrane; Multi-pass membrane protein. # SUBUNIT AQP4_HUMAN Homotetramer. Part of a complex containing MLC1, TRPV4, HEPACAM and ATP1B1. {ECO 0000269|PubMed 19383790, ECO 0000269|PubMed 22328087}. # SUPFAM SSF81338 SSF81338 # TCDB 1.A.8.8 the major intrinsic protein (mip) family # TIGRFAMs TIGR00861 MIP # TISSUE SPECIFICITY AQP4_HUMAN Brain - muscle >> heart, kidney, lung, and trachea. # UCSC uc002kvz human. [P55087-1] # WEB RESOURCE AQP4_HUMAN Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http //atlasgeneticsoncology.org/Genes/AQP4ID684ch18q11.html"; # eggNOG COG0580 LUCA # eggNOG KOG0223 Eukaryota BLAST swissprot:AQP4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:AQP4_HUMAN BioCyc ZFISH:ENSG00000171885-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000171885-MONOMER COXPRESdb 361 http://coxpresdb.jp/data/gene/361.shtml CleanEx HS_AQP4 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_AQP4 DIP DIP-48842N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-48842N DOI 10.1016/0014-5793(96)00092-0 http://dx.doi.org/10.1016/0014-5793(96)00092-0 DOI 10.1038/nature03983 http://dx.doi.org/10.1038/nature03983 DOI 10.1073/pnas.0902725106 http://dx.doi.org/10.1073/pnas.0902725106 DOI 10.1073/pnas.93.20.10908 http://dx.doi.org/10.1073/pnas.93.20.10908 DOI 10.1074/jbc.270.39.22907 http://dx.doi.org/10.1074/jbc.270.39.22907 DOI 10.1093/hmg/dds032 http://dx.doi.org/10.1093/hmg/dds032 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AC018371 http://www.ebi.ac.uk/ena/data/view/AC018371 EMBL BC022286 http://www.ebi.ac.uk/ena/data/view/BC022286 EMBL D63412 http://www.ebi.ac.uk/ena/data/view/D63412 EMBL U34845 http://www.ebi.ac.uk/ena/data/view/U34845 EMBL U34846 http://www.ebi.ac.uk/ena/data/view/U34846 EMBL U63622 http://www.ebi.ac.uk/ena/data/view/U63622 EMBL U63623 http://www.ebi.ac.uk/ena/data/view/U63623 Ensembl ENST00000383168 http://www.ensembl.org/id/ENST00000383168 Ensembl ENST00000440832 http://www.ensembl.org/id/ENST00000440832 Ensembl ENST00000581374 http://www.ensembl.org/id/ENST00000581374 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0009897 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009897 GO_component GO:0016323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016323 GO_function GO:0005372 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005372 GO_function GO:0015250 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015250 GO_function GO:0015254 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015254 GO_process GO:0003091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003091 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0006833 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006833 GO_process GO:0009992 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009992 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0050891 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050891 GO_process GO:0071346 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071346 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.20.1080.10 http://www.cathdb.info/version/latest/superfamily/1.20.1080.10 GeneCards AQP4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=AQP4 GeneID 361 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=361 GeneTree ENSGT00760000119223 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119223 HGNC HGNC:637 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:637 HOGENOM HOG000288286 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000288286&db=HOGENOM6 HOVERGEN HBG000312 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG000312&db=HOVERGEN HPA CAB005079 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB005079 HPA CAB058689 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB058689 HPA HPA014784 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA014784 InParanoid P55087 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P55087 InterPro IPR000425 http://www.ebi.ac.uk/interpro/entry/IPR000425 InterPro IPR022357 http://www.ebi.ac.uk/interpro/entry/IPR022357 InterPro IPR023271 http://www.ebi.ac.uk/interpro/entry/IPR023271 Jabion 361 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=361 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H01491 http://www.genome.jp/dbget-bin/www_bget?H01491 KEGG_Gene hsa:361 http://www.genome.jp/dbget-bin/www_bget?hsa:361 KEGG_Orthology KO:K09866 http://www.genome.jp/dbget-bin/www_bget?KO:K09866 KEGG_Pathway ko04962 http://www.genome.jp/kegg-bin/show_pathway?ko04962 KEGG_Pathway ko04976 http://www.genome.jp/kegg-bin/show_pathway?ko04976 MIM 600308 http://www.ncbi.nlm.nih.gov/omim/600308 OMA CRRESIM http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=CRRESIM OrthoDB EOG091G166T http://cegg.unige.ch/orthodb/results?searchtext=EOG091G166T PANTHER PTHR19139 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR19139 PDB 3GD8 http://www.ebi.ac.uk/pdbe-srv/view/entry/3GD8 PDBsum 3GD8 http://www.ebi.ac.uk/pdbsum/3GD8 PRINTS PR00783 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00783 PROSITE PS00221 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00221 PSORT swissprot:AQP4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:AQP4_HUMAN PSORT-B swissprot:AQP4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:AQP4_HUMAN PSORT2 swissprot:AQP4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:AQP4_HUMAN Pfam PF00230 http://pfam.xfam.org/family/PF00230 PharmGKB PA24922 http://www.pharmgkb.org/do/serve?objId=PA24922&objCls=Gene Phobius swissprot:AQP4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:AQP4_HUMAN PhylomeDB P55087 http://phylomedb.org/?seqid=P55087 ProteinModelPortal P55087 http://www.proteinmodelportal.org/query/uniprot/P55087 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16177791 http://www.ncbi.nlm.nih.gov/pubmed/16177791 PubMed 19383790 http://www.ncbi.nlm.nih.gov/pubmed/19383790 PubMed 22328087 http://www.ncbi.nlm.nih.gov/pubmed/22328087 PubMed 7559426 http://www.ncbi.nlm.nih.gov/pubmed/7559426 PubMed 8601457 http://www.ncbi.nlm.nih.gov/pubmed/8601457 PubMed 8855281 http://www.ncbi.nlm.nih.gov/pubmed/8855281 Reactome R-HSA-432040 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-432040 Reactome R-HSA-432047 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-432047 RefSeq NP_001641 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001641 RefSeq NP_004019 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004019 SMR P55087 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P55087 STRING 9606.ENSP00000372654 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000372654&targetmode=cogs SUPFAM SSF81338 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81338 TCDB 1.A.8.8 http://www.tcdb.org/search/result.php?tc=1.A.8.8 TIGRFAMs TIGR00861 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00861 UCSC uc002kvz http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002kvz&org=rat UniGene Hs.315369 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.315369 UniProtKB AQP4_HUMAN http://www.uniprot.org/uniprot/AQP4_HUMAN UniProtKB-AC P55087 http://www.uniprot.org/uniprot/P55087 charge swissprot:AQP4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:AQP4_HUMAN eggNOG COG0580 http://eggnogapi.embl.de/nog_data/html/tree/COG0580 eggNOG KOG0223 http://eggnogapi.embl.de/nog_data/html/tree/KOG0223 epestfind swissprot:AQP4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:AQP4_HUMAN garnier swissprot:AQP4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:AQP4_HUMAN helixturnhelix swissprot:AQP4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:AQP4_HUMAN hmoment swissprot:AQP4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:AQP4_HUMAN iep swissprot:AQP4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:AQP4_HUMAN inforesidue swissprot:AQP4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:AQP4_HUMAN neXtProt NX_P55087 http://www.nextprot.org/db/entry/NX_P55087 octanol swissprot:AQP4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:AQP4_HUMAN pepcoil swissprot:AQP4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:AQP4_HUMAN pepdigest swissprot:AQP4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:AQP4_HUMAN pepinfo swissprot:AQP4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:AQP4_HUMAN pepnet swissprot:AQP4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:AQP4_HUMAN pepstats swissprot:AQP4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:AQP4_HUMAN pepwheel swissprot:AQP4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:AQP4_HUMAN pepwindow swissprot:AQP4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:AQP4_HUMAN sigcleave swissprot:AQP4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:AQP4_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS REST_HUMAN Event=Alternative splicing; Named isoforms=4; Comment=Additional isoforms seem to exist.; Name=1; IsoId=Q13127-1; Sequence=Displayed; Name=2; IsoId=Q13127-2; Sequence=VSP_022064, VSP_022065; Name=3; Synonyms=N4; IsoId=Q13127-3; Sequence=VSP_022066, VSP_022068; Name=4; IsoId=Q13127-4; Sequence=VSP_022067; # AltName REST_HUMAN Neural-restrictive silencer factor # AltName REST_HUMAN X2 box repressor # BioGrid 111910 43 # CCDS CCDS3509 -. [Q13127-1] # ChiTaRS REST human # DISEASE REST_HUMAN Wilms tumor 6 (WT6) [MIM 616806] A pediatric malignancy of kidney, and the most common childhood abdominal malignancy. It is caused by the uncontrolled multiplication of renal stem, stromal, and epithelial cells. {ECO 0000269|PubMed 26551668}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. # Ensembl ENST00000309042 ENSP00000311816; ENSG00000084093. [Q13127-1] # Ensembl ENST00000619101 ENSP00000484836; ENSG00000084093. [Q13127-1] # ExpressionAtlas Q13127 baseline and differential # FUNCTION REST_HUMAN Transcriptional repressor which binds neuron-restrictive silencer element (NRSE) and represses neuronal gene transcription in non-neuronal cells. Restricts the expression of neuronal genes by associating with two distinct corepressors, mSin3 and CoREST, which in turn recruit histone deacetylase to the promoters of REST-regulated genes. Mediates repression by recruiting the BHC complex at RE1/NRSE sites which acts by deacetylating and demethylating specific sites on histones, thereby acting as a chromatin modifier. Transcriptional repression by REST-CDYL via the recruitment of histone methyltransferase EHMT2 may be important in transformation suppression. {ECO 0000269|PubMed 12399542, ECO 0000269|PubMed 19061646, ECO 0000269|PubMed 26551668, ECO 0000269|PubMed 7697725, ECO 0000269|PubMed 7871435, ECO 0000269|PubMed 8568247}. # GO_component GO:0005634 nucleus; IDA:UniProtKB. # GO_component GO:0005654 nucleoplasm; TAS:Reactome. # GO_component GO:0005829 cytosol; IEA:Ensembl. # GO_component GO:0017053 transcriptional repressor complex; IDA:UniProtKB. # GO_function GO:0001046 core promoter sequence-specific DNA binding; IDA:UniProtKB. # GO_function GO:0001047 core promoter binding; IDA:UniProtKB. # GO_function GO:0001078 transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding; IDA:UniProtKB. # GO_function GO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding; IEA:Ensembl. # GO_function GO:0003682 chromatin binding; ISS:UniProtKB. # GO_function GO:0003700 transcription factor activity, sequence-specific DNA binding; IDA:UniProtKB. # GO_function GO:0004407 histone deacetylase activity; TAS:Reactome. # GO_function GO:0008134 transcription factor binding; IPI:UniProtKB. # GO_function GO:0015271 outward rectifier potassium channel activity; IMP:UniProtKB. # GO_function GO:0044212 transcription regulatory region DNA binding; IDA:UniProtKB. # GO_function GO:0046872 metal ion binding; IEA:UniProtKB-KW. # GO_process GO:0000122 negative regulation of transcription from RNA polymerase II promoter; IDA:UniProtKB. # GO_process GO:0002244 hematopoietic progenitor cell differentiation; IEA:Ensembl. # GO_process GO:0006355 regulation of transcription, DNA-templated; NAS:UniProtKB. # GO_process GO:0008285 negative regulation of cell proliferation; IMP:UniProtKB. # GO_process GO:0010629 negative regulation of gene expression; IMP:UniProtKB. # GO_process GO:0032348 negative regulation of aldosterone biosynthetic process; IMP:UniProtKB. # GO_process GO:0035690 cellular response to drug; IMP:UniProtKB. # GO_process GO:0043065 positive regulation of apoptotic process; IMP:UniProtKB. # GO_process GO:0043280 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process; IMP:UniProtKB. # GO_process GO:0043922 negative regulation by host of viral transcription; IDA:UniProtKB. # GO_process GO:0045665 negative regulation of neuron differentiation; IMP:UniProtKB. # GO_process GO:0045892 negative regulation of transcription, DNA-templated; IDA:UniProtKB. # GO_process GO:0045893 positive regulation of transcription, DNA-templated; IDA:UniProtKB. # GO_process GO:0045955 negative regulation of calcium ion-dependent exocytosis; ISS:UniProtKB. # GO_process GO:0046676 negative regulation of insulin secretion; IMP:UniProtKB. # GO_process GO:0050768 negative regulation of neurogenesis; ISS:UniProtKB. # GO_process GO:0060379 cardiac muscle cell myoblast differentiation; ISS:UniProtKB. # GO_process GO:0070933 histone H4 deacetylation; IDA:UniProtKB. # GO_process GO:0071257 cellular response to electrical stimulus; IMP:UniProtKB. # GO_process GO:0071385 cellular response to glucocorticoid stimulus; IDA:UniProtKB. # GO_process GO:2000065 negative regulation of cortisol biosynthetic process; IMP:UniProtKB. # GO_process GO:2000706 negative regulation of dense core granule biogenesis; ISS:UniProtKB. # GO_process GO:2000740 negative regulation of mesenchymal stem cell differentiation; IMP:UniProtKB. # GO_process GO:2000798 negative regulation of amniotic stem cell differentiation; IMP:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005654 nucleoplasm # GOslim_component GO:0005829 cytosol # GOslim_function GO:0001071 nucleic acid binding transcription factor activity # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0003677 DNA binding # GOslim_function GO:0008134 transcription factor binding # GOslim_function GO:0016810 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006464 cellular protein modification process # GOslim_process GO:0008150 biological_process # GOslim_process GO:0030154 cell differentiation # Gene3D 3.30.160.60 -; 4. # Genevisible Q13127 HS # HGNC HGNC:9966 REST # INTERACTION REST_HUMAN P51532 SMARCA4; NbExp=2; IntAct=EBI-926706, EBI-302489; # IntAct Q13127 5 # InterPro IPR007087 Znf_C2H2 # InterPro IPR013087 Znf_C2H2/integrase_DNA-bd # InterPro IPR015880 Znf_C2H2-like # InterPro IPR027757 REST # InterPro IPR027775 C2H2_Znf_fam # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko03000 Transcription factors # KEGG_Pathway ko05016 Huntington's disease # MIM 600571 gene # MIM 616806 phenotype # Organism REST_HUMAN Homo sapiens (Human) # PANTHER PTHR10032 PTHR10032; 2 # PANTHER PTHR10032:SF71 PTHR10032:SF71; 2 # PDB 2CZY NMR; -; B=43-57 # PIR A56138 A56138 # PIR I38754 I38754 # PIR I38755 I38755 # PROSITE PS00028 ZINC_FINGER_C2H2_1 # PROSITE PS50157 ZINC_FINGER_C2H2_2; 6 # Proteomes UP000005640 Chromosome 4 # Reactome R-HSA-3214815 HDACs deacetylate histones # RecName REST_HUMAN RE1-silencing transcription factor # RefSeq NP_001180437 NM_001193508.1. [Q13127-1] # RefSeq NP_005603 NM_005612.4. [Q13127-1] # RefSeq XP_011532703 XM_011534401.2. [Q13127-1] # SEQUENCE CAUTION REST_HUMAN Sequence=AAA98503.1; Type=Frameshift; Positions=188, 198, 202, 212, 1087; Evidence={ECO 0000305}; Sequence=AAC50114.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO 0000305}; Sequence=AAC50115.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO 0000305}; Sequence=AAH38985.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO 0000305}; Sequence=BAD92987.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO 0000305}; # SIMILARITY Contains 9 C2H2-type zinc fingers. {ECO:0000255|PROSITE-ProRule PRU00042}. # SMART SM00355 ZnF_C2H2; 9 # SUBCELLULAR LOCATION REST_HUMAN Nucleus {ECO 0000250|UniProtKB Q8VIG1}. Note=Colocalizes with ZFP90 in the nucleus. {ECO 0000250|UniProtKB Q8VIG1}. # SUBUNIT REST_HUMAN Interacts with SIN3A, SIN3B and RCOR1. Interacts with CDYL. Interacts with EHMT1 and EHMT2 only in the presence of CDYL. Part of a complex containing at least CDYL, REST, WIZ, SETB1, EHMT1 and EHMT2. Interacts (via zinc-finger DNA-binding domain) with ZFP90 (via N- and C-termini); the interaction inhibits REST repressor activity (PubMed 21284946). {ECO 0000269|PubMed 10449787, ECO 0000269|PubMed 10734093, ECO 0000269|PubMed 16288918, ECO 0000269|PubMed 19061646, ECO 0000269|PubMed 21284946}. # TISSUE SPECIFICITY Ubiquitous. Expressed at higher levels in the tissues of the lymphocytic compartment, including spleen, thymus, peripheral blood lymphocytes and ovary. {ECO:0000269|PubMed 8568247}. # UCSC uc003hch human. [Q13127-1] # WEB RESOURCE REST_HUMAN Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http //atlasgeneticsoncology.org/Genes/RESTID44266ch4q12.html"; # eggNOG COG5048 LUCA # eggNOG KOG1721 Eukaryota BLAST swissprot:REST_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:REST_HUMAN BioCyc ZFISH:ENSG00000130779-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000130779-MONOMER COXPRESdb 5978 http://coxpresdb.jp/data/gene/5978.shtml CleanEx HS_REST http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_REST DIP DIP-35264N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-35264N DOI 10.1016/0092-8674(95)90298-8 http://dx.doi.org/10.1016/0092-8674(95)90298-8 DOI 10.1016/S0169-328X(99)00196-5 http://dx.doi.org/10.1016/S0169-328X(99)00196-5 DOI 10.1016/j.jmb.2005.10.008 http://dx.doi.org/10.1016/j.jmb.2005.10.008 DOI 10.1016/j.molcel.2008.10.025 http://dx.doi.org/10.1016/j.molcel.2008.10.025 DOI 10.1016/j.yjmcc.2011.01.017 http://dx.doi.org/10.1016/j.yjmcc.2011.01.017 DOI 10.1021/ac9004309 http://dx.doi.org/10.1021/ac9004309 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1038/ng.3440 http://dx.doi.org/10.1038/ng.3440 DOI 10.1073/pnas.96.17.9873 http://dx.doi.org/10.1073/pnas.96.17.9873 DOI 10.1074/jbc.275.13.9461 http://dx.doi.org/10.1074/jbc.275.13.9461 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1076469 http://dx.doi.org/10.1126/science.1076469 DOI 10.1126/science.7871435 http://dx.doi.org/10.1126/science.7871435 DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 EMBL AB209750 http://www.ebi.ac.uk/ena/data/view/AB209750 EMBL AC069307 http://www.ebi.ac.uk/ena/data/view/AC069307 EMBL BC038985 http://www.ebi.ac.uk/ena/data/view/BC038985 EMBL BC132859 http://www.ebi.ac.uk/ena/data/view/BC132859 EMBL BC136491 http://www.ebi.ac.uk/ena/data/view/BC136491 EMBL CH471057 http://www.ebi.ac.uk/ena/data/view/CH471057 EMBL U13877 http://www.ebi.ac.uk/ena/data/view/U13877 EMBL U13879 http://www.ebi.ac.uk/ena/data/view/U13879 EMBL U22314 http://www.ebi.ac.uk/ena/data/view/U22314 EMBL U22680 http://www.ebi.ac.uk/ena/data/view/U22680 Ensembl ENST00000309042 http://www.ensembl.org/id/ENST00000309042 Ensembl ENST00000619101 http://www.ensembl.org/id/ENST00000619101 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0017053 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0017053 GO_function GO:0001046 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001046 GO_function GO:0001047 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001047 GO_function GO:0001078 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001078 GO_function GO:0001228 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001228 GO_function GO:0003682 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003682 GO_function GO:0003700 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003700 GO_function GO:0004407 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004407 GO_function GO:0008134 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008134 GO_function GO:0015271 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015271 GO_function GO:0044212 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044212 GO_function GO:0046872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046872 GO_process GO:0000122 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000122 GO_process GO:0002244 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002244 GO_process GO:0006355 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006355 GO_process GO:0008285 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008285 GO_process GO:0010629 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010629 GO_process GO:0032348 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032348 GO_process GO:0035690 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035690 GO_process GO:0043065 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043065 GO_process GO:0043280 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043280 GO_process GO:0043922 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043922 GO_process GO:0045665 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045665 GO_process GO:0045892 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045892 GO_process GO:0045893 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045893 GO_process GO:0045955 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045955 GO_process GO:0046676 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046676 GO_process GO:0050768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050768 GO_process GO:0060379 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060379 GO_process GO:0070933 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070933 GO_process GO:0071257 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071257 GO_process GO:0071385 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071385 GO_process GO:2000065 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000065 GO_process GO:2000706 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000706 GO_process GO:2000740 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000740 GO_process GO:2000798 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000798 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_function GO:0001071 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001071 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0003677 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003677 GOslim_function GO:0008134 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008134 GOslim_function GO:0016810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016810 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006464 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006464 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0030154 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030154 Gene3D 3.30.160.60 http://www.cathdb.info/version/latest/superfamily/3.30.160.60 GeneCards REST http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=REST GeneID 5978 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=5978 GeneTree ENSGT00850000132304 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00850000132304 H-InvDB HIX0031381 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0031381 HGNC HGNC:9966 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:9966 HOVERGEN HBG093893 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG093893&db=HOVERGEN HPA CAB068222 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB068222 HPA HPA006079 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA006079 InParanoid Q13127 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q13127 IntAct Q13127 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q13127* InterPro IPR007087 http://www.ebi.ac.uk/interpro/entry/IPR007087 InterPro IPR013087 http://www.ebi.ac.uk/interpro/entry/IPR013087 InterPro IPR015880 http://www.ebi.ac.uk/interpro/entry/IPR015880 InterPro IPR027757 http://www.ebi.ac.uk/interpro/entry/IPR027757 InterPro IPR027775 http://www.ebi.ac.uk/interpro/entry/IPR027775 Jabion 5978 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=5978 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko03000 http://www.genome.jp/dbget-bin/www_bget?ko03000 KEGG_Gene hsa:5978 http://www.genome.jp/dbget-bin/www_bget?hsa:5978 KEGG_Orthology KO:K09222 http://www.genome.jp/dbget-bin/www_bget?KO:K09222 KEGG_Pathway ko05016 http://www.genome.jp/kegg-bin/show_pathway?ko05016 MIM 600571 http://www.ncbi.nlm.nih.gov/omim/600571 MIM 616806 http://www.ncbi.nlm.nih.gov/omim/616806 OMA HSHEGSD http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=HSHEGSD OrthoDB EOG091G01NI http://cegg.unige.ch/orthodb/results?searchtext=EOG091G01NI PANTHER PTHR10032 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10032 PANTHER PTHR10032:SF71 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10032:SF71 PDB 2CZY http://www.ebi.ac.uk/pdbe-srv/view/entry/2CZY PDBsum 2CZY http://www.ebi.ac.uk/pdbsum/2CZY PROSITE PS00028 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00028 PROSITE PS50157 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50157 PSORT swissprot:REST_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:REST_HUMAN PSORT-B swissprot:REST_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:REST_HUMAN PSORT2 swissprot:REST_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:REST_HUMAN PharmGKB PA34334 http://www.pharmgkb.org/do/serve?objId=PA34334&objCls=Gene Phobius swissprot:REST_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:REST_HUMAN PhylomeDB Q13127 http://phylomedb.org/?seqid=Q13127 ProteinModelPortal Q13127 http://www.proteinmodelportal.org/query/uniprot/Q13127 PubMed 10449787 http://www.ncbi.nlm.nih.gov/pubmed/10449787 PubMed 10521596 http://www.ncbi.nlm.nih.gov/pubmed/10521596 PubMed 10734093 http://www.ncbi.nlm.nih.gov/pubmed/10734093 PubMed 12399542 http://www.ncbi.nlm.nih.gov/pubmed/12399542 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 PubMed 16288918 http://www.ncbi.nlm.nih.gov/pubmed/16288918 PubMed 19061646 http://www.ncbi.nlm.nih.gov/pubmed/19061646 PubMed 19413330 http://www.ncbi.nlm.nih.gov/pubmed/19413330 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 21284946 http://www.ncbi.nlm.nih.gov/pubmed/21284946 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 26551668 http://www.ncbi.nlm.nih.gov/pubmed/26551668 PubMed 7697725 http://www.ncbi.nlm.nih.gov/pubmed/7697725 PubMed 7871435 http://www.ncbi.nlm.nih.gov/pubmed/7871435 PubMed 8568247 http://www.ncbi.nlm.nih.gov/pubmed/8568247 Reactome R-HSA-3214815 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-3214815 RefSeq NP_001180437 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001180437 RefSeq NP_005603 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_005603 RefSeq XP_011532703 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011532703 SMART SM00355 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00355 SMR Q13127 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q13127 STRING 9606.ENSP00000311816 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000311816&targetmode=cogs UCSC uc003hch http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003hch&org=rat UniGene Hs.307836 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.307836 UniProtKB REST_HUMAN http://www.uniprot.org/uniprot/REST_HUMAN UniProtKB-AC Q13127 http://www.uniprot.org/uniprot/Q13127 charge swissprot:REST_HUMAN http://rest.g-language.org/emboss/charge/swissprot:REST_HUMAN eggNOG COG5048 http://eggnogapi.embl.de/nog_data/html/tree/COG5048 eggNOG KOG1721 http://eggnogapi.embl.de/nog_data/html/tree/KOG1721 epestfind swissprot:REST_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:REST_HUMAN garnier swissprot:REST_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:REST_HUMAN helixturnhelix swissprot:REST_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:REST_HUMAN hmoment swissprot:REST_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:REST_HUMAN iep swissprot:REST_HUMAN http://rest.g-language.org/emboss/iep/swissprot:REST_HUMAN inforesidue swissprot:REST_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:REST_HUMAN neXtProt NX_Q13127 http://www.nextprot.org/db/entry/NX_Q13127 octanol swissprot:REST_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:REST_HUMAN pepcoil swissprot:REST_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:REST_HUMAN pepdigest swissprot:REST_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:REST_HUMAN pepinfo swissprot:REST_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:REST_HUMAN pepnet swissprot:REST_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:REST_HUMAN pepstats swissprot:REST_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:REST_HUMAN pepwheel swissprot:REST_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:REST_HUMAN pepwindow swissprot:REST_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:REST_HUMAN sigcleave swissprot:REST_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:REST_HUMAN ## Database ID URL or Descriptions # AltName S22AI_HUMAN Beckwith-Wiedemann syndrome chromosomal region 1 candidate gene A protein # AltName S22AI_HUMAN Efflux transporter-like protein # AltName S22AI_HUMAN Imprinted multi-membrane-spanning polyspecific transporter-related protein 1 # AltName S22AI_HUMAN Organic cation transporter-like protein 2 # AltName S22AI_HUMAN Solute carrier family 22 member 1-like # AltName S22AI_HUMAN Tumor-suppressing STF cDNA 5 protein # AltName S22AI_HUMAN Tumor-suppressing subchromosomal transferable fragment candidate gene 5 protein # AltName S22AI_HUMAN p45-Beckwith-Wiedemann region 1 A # BioGrid 111044 26 # CAUTION It is uncertain whether Met-1 or Met-17 is the initiator. {ECO 0000305}. # CDD cd06174 MFS # DISEASE S22AI_HUMAN Lung cancer (LNCR) [MIM 211980] A common malignancy affecting tissues of the lung. The most common form of lung cancer is non-small cell lung cancer (NSCLC) that can be divided into 3 major histologic subtypes squamous cell carcinoma, adenocarcinoma, and large cell lung cancer. NSCLC is often diagnosed at an advanced stage and has a poor prognosis. {ECO 0000269|PubMed 9751628}. Note=The gene represented in this entry may be involved in disease pathogenesis. # DISEASE S22AI_HUMAN Rhabdomyosarcoma, embryonal, 1 (RMSE1) [MIM 268210] A form of rhabdomyosarcoma, a highly malignant tumor of striated muscle derived from primitive mesenchymal cells and exhibiting differentiation along rhabdomyoblastic lines. Rhabdomyosarcoma is one of the most frequently occurring soft tissue sarcomas and the most common in children. It occurs in four forms alveolar, pleomorphic, embryonal and botryoidal rhabdomyosarcomas. Note=The disease may be caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000312221 ENSP00000311139; ENSG00000110628 # Ensembl ENST00000347936 ENSP00000307859; ENSG00000110628 # Ensembl ENST00000380574 ENSP00000369948; ENSG00000110628 # ExpressionAtlas Q96BI1 baseline and differential # FUNCTION S22AI_HUMAN May act as a transporter of organic cations based on a proton efflux antiport mechanism. May play a role in the transport of chloroquine and quinidine-related compounds in kidney. {ECO 0000269|PubMed 9744804}. # GO_component GO:0005635 nuclear envelope; IDA:UniProtKB. # GO_component GO:0005737 cytoplasm; IDA:UniProtKB. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; NAS:UniProtKB. # GO_component GO:0016324 apical plasma membrane; IDA:UniProtKB. # GO_function GO:0015238 drug transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0015293 symporter activity; IEA:UniProtKB-KW. # GO_function GO:0031625 ubiquitin protein ligase binding; IPI:UniProtKB. # GO_function S22AI_HUMAN GO 0015307 drug proton antiporter activity; TAS Reactome. # GO_process GO:0007588 excretion; NAS:UniProtKB. # GO_process GO:0015695 organic cation transport; NAS:UniProtKB. # GO_process GO:0015893 drug transport; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005635 nuclear envelope # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0019899 enzyme binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # Genevisible Q96BI1 HS # HGNC HGNC:10964 SLC22A18 # IntAct Q96BI1 4 # InterPro IPR001958 Tet-R_TetA/multi-R_MdtG # InterPro IPR011701 MFS # InterPro IPR020846 MFS_dom # KEGG_Brite ko02000 Transporters # KEGG_Brite ko02001 Solute carrier family # MIM 114480 phenotype # MIM 211980 phenotype # MIM 268210 phenotype # MIM 602631 gene # Organism S22AI_HUMAN Homo sapiens (Human) # PRINTS PR01035 TCRTETA # PROSITE PS50850 MFS # Pfam PF07690 MFS_1 # Proteomes UP000005640 Chromosome 11 # Reactome R-HSA-549127 Organic cation transport # RecName S22AI_HUMAN Solute carrier family 22 member 18 # RefSeq NP_001302430 NM_001315501.1 # RefSeq NP_001302431 NM_001315502.1 # RefSeq NP_002546 NM_002555.5 # RefSeq NP_899056 NM_183233.2 # SEQUENCE CAUTION Sequence=AAB82727.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA32779.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family. {ECO 0000305}. # SUBCELLULAR LOCATION S22AI_HUMAN Apical cell membrane {ECO 0000305}; Multi- pass membrane protein {ECO 0000305}. Note=Localized at the apical membrane surface of renal proximal tubules. {ECO 0000269|PubMed 9744804}. # SUBUNIT Interacts with RNF167. {ECO:0000269|PubMed 16314844}. # SUPFAM SSF103473 SSF103473 # TCDB 2.A.1.2.53 the major facilitator superfamily (mfs) # TISSUE SPECIFICITY S22AI_HUMAN Expressed at high levels in adult and fetal kidney and liver, and adult colon. Expressed in fetal renal proximal tubules (at protein level). Expressed at lower levels in heart, brain and lung. {ECO 0000269|PubMed 9499412, ECO 0000269|PubMed 9520460, ECO 0000269|PubMed 9570947, ECO 0000269|PubMed 9744804}. # UCSC uc001lwx human # eggNOG ENOG410IIP5 Eukaryota # eggNOG ENOG4111F2C LUCA BLAST swissprot:S22AI_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S22AI_HUMAN BioCyc ZFISH:ENSG00000110628-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000110628-MONOMER COXPRESdb 5002 http://coxpresdb.jp/data/gene/5002.shtml CleanEx HS_SLC22A18 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC22A18 DOI 10.1006/geno.1998.5221 http://dx.doi.org/10.1006/geno.1998.5221 DOI 10.1016/S0014-5793(98)00907-7 http://dx.doi.org/10.1016/S0014-5793(98)00907-7 DOI 10.1038/sj.onc.1209167 http://dx.doi.org/10.1038/sj.onc.1209167 DOI 10.1073/pnas.95.7.3873 http://dx.doi.org/10.1073/pnas.95.7.3873 DOI 10.1093/dnares/5.4.235 http://dx.doi.org/10.1093/dnares/5.4.235 DOI 10.1093/hmg/7.4.597 http://dx.doi.org/10.1093/hmg/7.4.597 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AB012083 http://www.ebi.ac.uk/ena/data/view/AB012083 EMBL AF028738 http://www.ebi.ac.uk/ena/data/view/AF028738 EMBL AF030302 http://www.ebi.ac.uk/ena/data/view/AF030302 EMBL AF037064 http://www.ebi.ac.uk/ena/data/view/AF037064 EMBL AF059663 http://www.ebi.ac.uk/ena/data/view/AF059663 EMBL AF070479 http://www.ebi.ac.uk/ena/data/view/AF070479 EMBL BC015571 http://www.ebi.ac.uk/ena/data/view/BC015571 Ensembl ENST00000312221 http://www.ensembl.org/id/ENST00000312221 Ensembl ENST00000347936 http://www.ensembl.org/id/ENST00000347936 Ensembl ENST00000380574 http://www.ensembl.org/id/ENST00000380574 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005635 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005635 GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_function GO:0015238 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015238 GO_function GO:0015293 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015293 GO_function GO:0015307 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015307 GO_function GO:0031625 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031625 GO_process GO:0007588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007588 GO_process GO:0015695 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015695 GO_process GO:0015893 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015893 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005635 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005635 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GeneCards SLC22A18 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC22A18 GeneID 5002 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=5002 GeneTree ENSGT00830000128359 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00830000128359 H-InvDB HIX0019391 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0019391 HGNC HGNC:10964 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10964 HOVERGEN HBG082086 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG082086&db=HOVERGEN InParanoid Q96BI1 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q96BI1 IntAct Q96BI1 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q96BI1* InterPro IPR001958 http://www.ebi.ac.uk/interpro/entry/IPR001958 InterPro IPR011701 http://www.ebi.ac.uk/interpro/entry/IPR011701 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 5002 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=5002 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:5002 http://www.genome.jp/dbget-bin/www_bget?hsa:5002 KEGG_Orthology KO:K08214 http://www.genome.jp/dbget-bin/www_bget?KO:K08214 MIM 114480 http://www.ncbi.nlm.nih.gov/omim/114480 MIM 211980 http://www.ncbi.nlm.nih.gov/omim/211980 MIM 268210 http://www.ncbi.nlm.nih.gov/omim/268210 MIM 602631 http://www.ncbi.nlm.nih.gov/omim/602631 OMA LMWPSFL http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=LMWPSFL OrthoDB EOG091G0H3E http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0H3E PRINTS PR01035 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01035 PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PSORT swissprot:S22AI_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S22AI_HUMAN PSORT-B swissprot:S22AI_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S22AI_HUMAN PSORT2 swissprot:S22AI_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S22AI_HUMAN Pfam PF07690 http://pfam.xfam.org/family/PF07690 PharmGKB PA35846 http://www.pharmgkb.org/do/serve?objId=PA35846&objCls=Gene Phobius swissprot:S22AI_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S22AI_HUMAN PhylomeDB Q96BI1 http://phylomedb.org/?seqid=Q96BI1 ProteinModelPortal Q96BI1 http://www.proteinmodelportal.org/query/uniprot/Q96BI1 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16314844 http://www.ncbi.nlm.nih.gov/pubmed/16314844 PubMed 9499412 http://www.ncbi.nlm.nih.gov/pubmed/9499412 PubMed 9520460 http://www.ncbi.nlm.nih.gov/pubmed/9520460 PubMed 9570947 http://www.ncbi.nlm.nih.gov/pubmed/9570947 PubMed 9744804 http://www.ncbi.nlm.nih.gov/pubmed/9744804 PubMed 9751628 http://www.ncbi.nlm.nih.gov/pubmed/9751628 PubMed 9802569 http://www.ncbi.nlm.nih.gov/pubmed/9802569 Reactome R-HSA-549127 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-549127 RefSeq NP_001302430 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001302430 RefSeq NP_001302431 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001302431 RefSeq NP_002546 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_002546 RefSeq NP_899056 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_899056 STRING 9606.ENSP00000307859 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000307859&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.1.2.53 http://www.tcdb.org/search/result.php?tc=2.A.1.2.53 UCSC uc001lwx http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001lwx&org=rat UniGene Hs.50868 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.50868 UniProtKB S22AI_HUMAN http://www.uniprot.org/uniprot/S22AI_HUMAN UniProtKB-AC Q96BI1 http://www.uniprot.org/uniprot/Q96BI1 charge swissprot:S22AI_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S22AI_HUMAN eggNOG ENOG410IIP5 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IIP5 eggNOG ENOG4111F2C http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111F2C epestfind swissprot:S22AI_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S22AI_HUMAN garnier swissprot:S22AI_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S22AI_HUMAN helixturnhelix swissprot:S22AI_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S22AI_HUMAN hmoment swissprot:S22AI_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S22AI_HUMAN iep swissprot:S22AI_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S22AI_HUMAN inforesidue swissprot:S22AI_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S22AI_HUMAN neXtProt NX_Q96BI1 http://www.nextprot.org/db/entry/NX_Q96BI1 octanol swissprot:S22AI_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S22AI_HUMAN pepcoil swissprot:S22AI_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S22AI_HUMAN pepdigest swissprot:S22AI_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S22AI_HUMAN pepinfo swissprot:S22AI_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S22AI_HUMAN pepnet swissprot:S22AI_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S22AI_HUMAN pepstats swissprot:S22AI_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S22AI_HUMAN pepwheel swissprot:S22AI_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S22AI_HUMAN pepwindow swissprot:S22AI_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S22AI_HUMAN sigcleave swissprot:S22AI_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S22AI_HUMAN ## Database ID URL or Descriptions # AltName CLCA2_HUMAN Calcium-activated chloride channel family member 2 # AltName CLCA2_HUMAN Calcium-activated chloride channel protein 3 # BioGrid 114994 3 # ChiTaRS CLCA2 human # DOMAIN CLCA2_HUMAN The metalloprotease region is responsible for autoproteolytic processing. It can also cross-cleave other CLCA Substrates. {ECO 0000250|UniProtKB A8K7I4}. # Ensembl ENST00000370565 ENSP00000359596; ENSG00000137975 # FUNCTION CLCA2_HUMAN Plays a role in modulating chloride current across the plasma membrane in a calcium-dependent manner, and cell adhesion. Involved in basal cell adhesion and/or stratification of squamous epithelia. May act as a tumor suppressor in breast and colorectal cancer. Plays a key role for cell adhesion in the beginning stages of lung metastasis via the binding to ITGB4. {ECO 0000269|PubMed 10554024, ECO 0000269|PubMed 11320086, ECO 0000269|PubMed 11445004, ECO 0000269|PubMed 15707651, ECO 0000269|PubMed 16158324}. # GO_component GO:0005576 extracellular region; IEA:UniProtKB-SubCell. # GO_component GO:0005634 nucleus; IDA:HPA. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0009925 basal plasma membrane; IEA:UniProtKB-SubCell. # GO_component GO:0030054 cell junction; IDA:HPA. # GO_function GO:0004222 metalloendopeptidase activity; TAS:Reactome. # GO_function GO:0005229 intracellular calcium activated chloride channel activity; IEA:InterPro. # GO_function GO:0005254 chloride channel activity; TAS:ProtInc. # GO_function GO:0015276 ligand-gated ion channel activity; IEA:Ensembl. # GO_function GO:0046872 metal ion binding; IEA:UniProtKB-KW. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0007155 cell adhesion; IEA:UniProtKB-KW. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005576 extracellular region # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0008233 peptidase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0007155 cell adhesion # GOslim_process GO:0055085 transmembrane transport # Gene3D 3.40.50.410 -; 1. # Genevisible Q9UQC9 HS # HGNC HGNC:2016 CLCA2 # INDUCTION CLCA2_HUMAN Significantly down-regulated in breast and colorectal cancer. {ECO 0000269|PubMed 10554024, ECO 0000269|PubMed 11445004}. # InterPro IPR002035 VWF_A # InterPro IPR004727 CLCA_chordata # InterPro IPR013642 CLCA # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04740 Olfactory transduction # KEGG_Pathway ko04972 Pancreatic secretion # MIM 604003 gene # Organism CLCA2_HUMAN Homo sapiens (Human) # PROSITE PS50234 VWFA # PTM CLCA2_HUMAN N-glycosylated. {ECO 0000269|PubMed 10362588, ECO 0000269|PubMed 16873362}. # PTM CLCA2_HUMAN The 141 kDa mature form is autoproteolytically cleaved by the metalloprotease domain, producing a 109 kDa form and a 35 kDa form. The cleavage is necessary for calcium-activated chloride channel (CaCC) activation activity. {ECO 0000250|UniProtKB A8K7I4}. # Pfam PF08434 CLCA # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-2672351 Stimuli-sensing channels # RecName CLCA2_HUMAN Calcium-activated chloride channel regulator 2 # RecName CLCA2_HUMAN Calcium-activated chloride channel regulator 2, 109 kDa form # RecName CLCA2_HUMAN Calcium-activated chloride channel regulator 2, 109 kDa form # RecName CLCA2_HUMAN Calcium-activated chloride channel regulator 2, 35 kDa form # RefSeq NP_006527 NM_006536.6 # SIMILARITY Belongs to the CLCR family. {ECO 0000305}. # SIMILARITY Contains 1 VWFA domain. {ECO:0000255|PROSITE- ProRule PRU00219}. # SMART SM00327 VWA # SUBCELLULAR LOCATION CLCA2_HUMAN Calcium-activated chloride channel regulator 2, 109 kDa form Secreted. Note=Remains associated to the 35 kDa form until an unidentified event triggers the release. # SUBCELLULAR LOCATION CLCA2_HUMAN Cell membrane; Single-pass type I membrane protein. Basal cell membrane; Single-pass type I membrane protein. Cell junction. # SUPFAM SSF53300 SSF53300 # TIGRFAMs TIGR00868 hCaCC # TISSUE SPECIFICITY CLCA2_HUMAN Expressed in cornea, skin, vagina, esophagus, and larynx (at protein level). Expressed in trachea and mammary gland. Weakly expressed in testis and kidney. Highly expressed in corneal epithelium, colon and trachea. Moderately expressed in brain, urogenital organs, bladder, uterus and prostate. Highly expressed in tissues containing stratified epithelium including cornea, esophagus, larynx, skin and vagina than those tissues which contain only epithelial monolayers. Expressed in normal breast epithelium but not in breast cancer. Highly expressed during epithelial stratification. Expressed in endothelial cells of lung. Expressed selectively in endothelia of small pulmonary arteries, arterioles, and subpleural and interlobular venules. {ECO 0000269|PubMed 10362588, ECO 0000269|PubMed 10437792, ECO 0000269|PubMed 10554024, ECO 0000269|PubMed 11262615, ECO 0000269|PubMed 11320086, ECO 0000269|PubMed 14966209, ECO 0000269|PubMed 15707651, ECO 0000269|PubMed 16158324}. # UCSC uc001dlr human # eggNOG ENOG410IEPS Eukaryota # eggNOG ENOG410XPSZ LUCA BLAST swissprot:CLCA2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CLCA2_HUMAN COXPRESdb 9635 http://coxpresdb.jp/data/gene/9635.shtml CleanEx HS_CLCA2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CLCA2 DOI 10.1007/s00441-005-0059-2 http://dx.doi.org/10.1007/s00441-005-0059-2 DOI 10.1016/S0014-5793(99)00891-1 http://dx.doi.org/10.1016/S0014-5793(99)00891-1 DOI 10.1016/j.acthis.2004.08.003 http://dx.doi.org/10.1016/j.acthis.2004.08.003 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.M100478200 http://dx.doi.org/10.1074/jbc.M100478200 DOI 10.1074/jbc.M605919200 http://dx.doi.org/10.1074/jbc.M605919200 DOI 10.1076/ceyr.21.6.918.6983 http://dx.doi.org/10.1076/ceyr.21.6.918.6983 DOI 10.1089/10445490152122442 http://dx.doi.org/10.1089/10445490152122442 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1133427 http://dx.doi.org/10.1126/science.1133427 DOI 10.1177/002215540405200313 http://dx.doi.org/10.1177/002215540405200313 EC_number EC:3.4.-.- {ECO:0000250|UniProtKB:A8K7I4} http://www.genome.jp/dbget-bin/www_bget?EC:3.4.-.- {ECO:0000250|UniProtKB:A8K7I4} EMBL AB026833 http://www.ebi.ac.uk/ena/data/view/AB026833 EMBL AF043977 http://www.ebi.ac.uk/ena/data/view/AF043977 EMBL AF127980 http://www.ebi.ac.uk/ena/data/view/AF127980 EMBL AK290348 http://www.ebi.ac.uk/ena/data/view/AK290348 EMBL BC041096 http://www.ebi.ac.uk/ena/data/view/BC041096 EMBL CH471097 http://www.ebi.ac.uk/ena/data/view/CH471097 ENZYME 3.4.-.- {ECO:0000250|UniProtKB:A8K7I4} http://enzyme.expasy.org/EC/3.4.-.- {ECO:0000250|UniProtKB:A8K7I4} Ensembl ENST00000370565 http://www.ensembl.org/id/ENST00000370565 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005576 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005576 GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0009925 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009925 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_function GO:0004222 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004222 GO_function GO:0005229 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005229 GO_function GO:0005254 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005254 GO_function GO:0015276 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015276 GO_function GO:0046872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046872 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0007155 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007155 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005576 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005576 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0008233 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008233 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007155 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007155 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 3.40.50.410 http://www.cathdb.info/version/latest/superfamily/3.40.50.410 GeneCards CLCA2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CLCA2 GeneID 9635 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=9635 GeneTree ENSGT00390000004810 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000004810 HGNC HGNC:2016 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:2016 HOGENOM HOG000015107 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000015107&db=HOGENOM6 HOVERGEN HBG005560 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG005560&db=HOVERGEN HPA HPA047192 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA047192 InParanoid Q9UQC9 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9UQC9 IntAct Q9UQC9 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9UQC9* IntEnz 3.4.-.- {ECO:0000250|UniProtKB:A8K7I4} http://www.ebi.ac.uk/intenz/query?cmd=Search&q=3.4.-.- {ECO:0000250|UniProtKB:A8K7I4} InterPro IPR002035 http://www.ebi.ac.uk/interpro/entry/IPR002035 InterPro IPR004727 http://www.ebi.ac.uk/interpro/entry/IPR004727 InterPro IPR013642 http://www.ebi.ac.uk/interpro/entry/IPR013642 Jabion 9635 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=9635 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:9635 http://www.genome.jp/dbget-bin/www_bget?hsa:9635 KEGG_Orthology KO:K05028 http://www.genome.jp/dbget-bin/www_bget?KO:K05028 KEGG_Pathway ko04740 http://www.genome.jp/kegg-bin/show_pathway?ko04740 KEGG_Pathway ko04972 http://www.genome.jp/kegg-bin/show_pathway?ko04972 MIM 604003 http://www.ncbi.nlm.nih.gov/omim/604003 OMA TNGPEHQ http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=TNGPEHQ OrthoDB EOG091G09E6 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G09E6 PROSITE PS50234 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50234 PSORT swissprot:CLCA2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CLCA2_HUMAN PSORT-B swissprot:CLCA2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CLCA2_HUMAN PSORT2 swissprot:CLCA2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CLCA2_HUMAN Pfam PF08434 http://pfam.xfam.org/family/PF08434 PharmGKB PA26543 http://www.pharmgkb.org/do/serve?objId=PA26543&objCls=Gene Phobius swissprot:CLCA2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CLCA2_HUMAN PhylomeDB Q9UQC9 http://phylomedb.org/?seqid=Q9UQC9 ProteinModelPortal Q9UQC9 http://www.proteinmodelportal.org/query/uniprot/Q9UQC9 PubMed 10362588 http://www.ncbi.nlm.nih.gov/pubmed/10362588 PubMed 10437792 http://www.ncbi.nlm.nih.gov/pubmed/10437792 PubMed 10554024 http://www.ncbi.nlm.nih.gov/pubmed/10554024 PubMed 11262615 http://www.ncbi.nlm.nih.gov/pubmed/11262615 PubMed 11320086 http://www.ncbi.nlm.nih.gov/pubmed/11320086 PubMed 11445004 http://www.ncbi.nlm.nih.gov/pubmed/11445004 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 14966209 http://www.ncbi.nlm.nih.gov/pubmed/14966209 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15707651 http://www.ncbi.nlm.nih.gov/pubmed/15707651 PubMed 16158324 http://www.ncbi.nlm.nih.gov/pubmed/16158324 PubMed 16873362 http://www.ncbi.nlm.nih.gov/pubmed/16873362 PubMed 16959974 http://www.ncbi.nlm.nih.gov/pubmed/16959974 Reactome R-HSA-2672351 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2672351 RefSeq NP_006527 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_006527 SMART SM00327 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00327 SMR Q9UQC9 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9UQC9 STRING 9606.ENSP00000359596 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000359596&targetmode=cogs SUPFAM SSF53300 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF53300 TIGRFAMs TIGR00868 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00868 UCSC uc001dlr http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001dlr&org=rat UniGene Hs.241551 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.241551 UniProtKB CLCA2_HUMAN http://www.uniprot.org/uniprot/CLCA2_HUMAN UniProtKB-AC Q9UQC9 http://www.uniprot.org/uniprot/Q9UQC9 charge swissprot:CLCA2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CLCA2_HUMAN eggNOG ENOG410IEPS http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IEPS eggNOG ENOG410XPSZ http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XPSZ epestfind swissprot:CLCA2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CLCA2_HUMAN garnier swissprot:CLCA2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CLCA2_HUMAN helixturnhelix swissprot:CLCA2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CLCA2_HUMAN hmoment swissprot:CLCA2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CLCA2_HUMAN iep swissprot:CLCA2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CLCA2_HUMAN inforesidue swissprot:CLCA2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CLCA2_HUMAN neXtProt NX_Q9UQC9 http://www.nextprot.org/db/entry/NX_Q9UQC9 octanol swissprot:CLCA2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CLCA2_HUMAN pepcoil swissprot:CLCA2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CLCA2_HUMAN pepdigest swissprot:CLCA2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CLCA2_HUMAN pepinfo swissprot:CLCA2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CLCA2_HUMAN pepnet swissprot:CLCA2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CLCA2_HUMAN pepstats swissprot:CLCA2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CLCA2_HUMAN pepwheel swissprot:CLCA2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CLCA2_HUMAN pepwindow swissprot:CLCA2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CLCA2_HUMAN sigcleave swissprot:CLCA2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CLCA2_HUMAN ## Database ID URL or Descriptions # AltName VA0D2_HUMAN Vacuolar proton pump subunit d 2 # BioGrid 128858 18 # Ensembl ENST00000285393 ENSP00000285393; ENSG00000147614 # ExpressionAtlas Q8N8Y2 baseline and differential # FUNCTION VA0D2_HUMAN Subunit of the integral membrane V0 complex of vacuolar ATPase. Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells, thus providing most of the energy required for transport processes in the vacuolar system. May play a role in coupling of proton transport and ATP hydrolysis (By similarity). {ECO 0000250}. # GO_component GO:0005765 lysosomal membrane; IBA:GO_Central. # GO_component GO:0005769 early endosome; IBA:GO_Central. # GO_component GO:0010008 endosome membrane; TAS:Reactome. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0016324 apical plasma membrane; IDA:UniProtKB. # GO_component GO:0016471 vacuolar proton-transporting V-type ATPase complex; IDA:UniProtKB. # GO_component GO:0030670 phagocytic vesicle membrane; TAS:Reactome. # GO_component GO:0033179 proton-transporting V-type ATPase, V0 domain; IEA:InterPro. # GO_component GO:0033181 plasma membrane proton-transporting V-type ATPase complex; IBA:GO_Central. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0008553 hydrogen-exporting ATPase activity, phosphorylative mechanism; IBA:GO_Central. # GO_function GO:0046961 proton-transporting ATPase activity, rotational mechanism; IBA:GO_Central. # GO_process GO:0007034 vacuolar transport; IBA:GO_Central. # GO_process GO:0007035 vacuolar acidification; IBA:GO_Central. # GO_process GO:0008286 insulin receptor signaling pathway; TAS:Reactome. # GO_process GO:0015991 ATP hydrolysis coupled proton transport; IEA:InterPro. # GO_process GO:0016241 regulation of macroautophagy; NAS:ParkinsonsUK-UCL. # GO_process GO:0033572 transferrin transport; TAS:Reactome. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0090383 phagosome acidification; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005768 endosome # GOslim_component GO:0043226 organelle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007034 vacuolar transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Genevisible Q8N8Y2 HS # HGNC HGNC:18266 ATP6V0D2 # IntAct Q8N8Y2 9 # InterPro IPR002843 ATPase_V0-cplx_csu/dsu # InterPro IPR016727 ATPase_V0-cplx_dsu # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Brite ko01000 Enzymes # KEGG_Pathway ko00190 Oxidative phosphorylation # KEGG_Pathway ko04142 Lysosome # KEGG_Pathway ko04145 Phagosome # KEGG_Pathway ko04721 Synaptic vesicle cycle # KEGG_Pathway ko04966 Collecting duct acid secretion # KEGG_Pathway ko05110 Vibrio cholerae infection # KEGG_Pathway ko05120 Epithelial cell signaling in Helicobacter pylori infection # KEGG_Pathway ko05152 Tuberculosis # KEGG_Pathway ko05203 Viral carcinogenesis # KEGG_Pathway ko05323 Rheumatoid arthritis # Organism VA0D2_HUMAN Homo sapiens (Human) # PANTHER PTHR11028 PTHR11028 # PIRSF PIRSF018497 V-ATP_synth_D # Pfam PF01992 vATP-synt_AC39 # Proteomes UP000005640 Chromosome 8 # Reactome R-HSA-1222556 ROS, RNS production in response to bacteria # Reactome R-HSA-77387 Insulin receptor recycling # Reactome R-HSA-917977 Transferrin endocytosis and recycling # Reactome R-HSA-983712 Ion channel transport # RecName VA0D2_HUMAN V-type proton ATPase subunit d 2 # RefSeq NP_689778 NM_152565.1 # SIMILARITY Belongs to the V-ATPase V0D/AC39 subunit family. {ECO 0000305}. # SUBUNIT V-ATPase is a heteromultimeric enzyme composed of a peripheral catalytic V1 complex (components A to H) attached to an integral membrane V0 proton pore complex (components a, c, c', c'' and d). # SUPFAM SSF103486 SSF103486 # TISSUE SPECIFICITY Kidney, osteoclast and lung. {ECO:0000269|PubMed 12384298}. # UCSC uc003ydp human # eggNOG COG1527 LUCA # eggNOG KOG2957 Eukaryota BLAST swissprot:VA0D2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:VA0D2_HUMAN BioCyc MetaCyc:HS07458-MONOMER http://biocyc.org/getid?id=MetaCyc:HS07458-MONOMER BioCyc ZFISH:HS07458-MONOMER http://biocyc.org/getid?id=ZFISH:HS07458-MONOMER COG COG1527 http://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=COG1527 COXPRESdb 245972 http://coxpresdb.jp/data/gene/245972.shtml CleanEx HS_ATP6V0D2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ATP6V0D2 DOI 10.1016/S0378-1119(02)00884-3 http://dx.doi.org/10.1016/S0378-1119(02)00884-3 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AK096027 http://www.ebi.ac.uk/ena/data/view/AK096027 EMBL AY079172 http://www.ebi.ac.uk/ena/data/view/AY079172 EMBL BC065207 http://www.ebi.ac.uk/ena/data/view/BC065207 Ensembl ENST00000285393 http://www.ensembl.org/id/ENST00000285393 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005765 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005765 GO_component GO:0005769 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005769 GO_component GO:0010008 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010008 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:0016471 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016471 GO_component GO:0030670 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030670 GO_component GO:0033179 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033179 GO_component GO:0033181 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033181 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0008553 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008553 GO_function GO:0046961 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046961 GO_process GO:0007034 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007034 GO_process GO:0007035 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007035 GO_process GO:0008286 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008286 GO_process GO:0015991 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015991 GO_process GO:0016241 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016241 GO_process GO:0033572 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033572 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0090383 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090383 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007034 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007034 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards ATP6V0D2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ATP6V0D2 GeneID 245972 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=245972 GeneTree ENSGT00390000002200 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000002200 HGNC HGNC:18266 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:18266 HOGENOM HOG000199065 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000199065&db=HOGENOM6 HOVERGEN HBG018065 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG018065&db=HOVERGEN HPA HPA055327 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA055327 HPA HPA058496 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA058496 InParanoid Q8N8Y2 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8N8Y2 IntAct Q8N8Y2 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q8N8Y2* InterPro IPR002843 http://www.ebi.ac.uk/interpro/entry/IPR002843 InterPro IPR016727 http://www.ebi.ac.uk/interpro/entry/IPR016727 Jabion 245972 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=245972 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00002 http://www.genome.jp/dbget-bin/www_bget?ko00002 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Gene hsa:245972 http://www.genome.jp/dbget-bin/www_bget?hsa:245972 KEGG_Orthology KO:K02146 http://www.genome.jp/dbget-bin/www_bget?KO:K02146 KEGG_Pathway ko00190 http://www.genome.jp/kegg-bin/show_pathway?ko00190 KEGG_Pathway ko04142 http://www.genome.jp/kegg-bin/show_pathway?ko04142 KEGG_Pathway ko04145 http://www.genome.jp/kegg-bin/show_pathway?ko04145 KEGG_Pathway ko04721 http://www.genome.jp/kegg-bin/show_pathway?ko04721 KEGG_Pathway ko04966 http://www.genome.jp/kegg-bin/show_pathway?ko04966 KEGG_Pathway ko05110 http://www.genome.jp/kegg-bin/show_pathway?ko05110 KEGG_Pathway ko05120 http://www.genome.jp/kegg-bin/show_pathway?ko05120 KEGG_Pathway ko05152 http://www.genome.jp/kegg-bin/show_pathway?ko05152 KEGG_Pathway ko05203 http://www.genome.jp/kegg-bin/show_pathway?ko05203 KEGG_Pathway ko05323 http://www.genome.jp/kegg-bin/show_pathway?ko05323 OMA DFEQMKR http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=DFEQMKR OrthoDB EOG091G09L5 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G09L5 PANTHER PTHR11028 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11028 PSORT swissprot:VA0D2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:VA0D2_HUMAN PSORT-B swissprot:VA0D2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:VA0D2_HUMAN PSORT2 swissprot:VA0D2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:VA0D2_HUMAN Pfam PF01992 http://pfam.xfam.org/family/PF01992 PharmGKB PA38516 http://www.pharmgkb.org/do/serve?objId=PA38516&objCls=Gene Phobius swissprot:VA0D2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:VA0D2_HUMAN PhylomeDB Q8N8Y2 http://phylomedb.org/?seqid=Q8N8Y2 ProteinModelPortal Q8N8Y2 http://www.proteinmodelportal.org/query/uniprot/Q8N8Y2 PubMed 12384298 http://www.ncbi.nlm.nih.gov/pubmed/12384298 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 Reactome R-HSA-1222556 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1222556 Reactome R-HSA-77387 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-77387 Reactome R-HSA-917977 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-917977 Reactome R-HSA-983712 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-983712 RefSeq NP_689778 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_689778 STRING 9606.ENSP00000285393 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000285393&targetmode=cogs STRING COG1527 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=COG1527&targetmode=cogs SUPFAM SSF103486 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103486 UCSC uc003ydp http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003ydp&org=rat UniGene Hs.436360 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.436360 UniProtKB VA0D2_HUMAN http://www.uniprot.org/uniprot/VA0D2_HUMAN UniProtKB-AC Q8N8Y2 http://www.uniprot.org/uniprot/Q8N8Y2 charge swissprot:VA0D2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:VA0D2_HUMAN eggNOG COG1527 http://eggnogapi.embl.de/nog_data/html/tree/COG1527 eggNOG KOG2957 http://eggnogapi.embl.de/nog_data/html/tree/KOG2957 epestfind swissprot:VA0D2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:VA0D2_HUMAN garnier swissprot:VA0D2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:VA0D2_HUMAN helixturnhelix swissprot:VA0D2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:VA0D2_HUMAN hmoment swissprot:VA0D2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:VA0D2_HUMAN iep swissprot:VA0D2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:VA0D2_HUMAN inforesidue swissprot:VA0D2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:VA0D2_HUMAN neXtProt NX_Q8N8Y2 http://www.nextprot.org/db/entry/NX_Q8N8Y2 octanol swissprot:VA0D2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:VA0D2_HUMAN pepcoil swissprot:VA0D2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:VA0D2_HUMAN pepdigest swissprot:VA0D2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:VA0D2_HUMAN pepinfo swissprot:VA0D2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:VA0D2_HUMAN pepnet swissprot:VA0D2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:VA0D2_HUMAN pepstats swissprot:VA0D2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:VA0D2_HUMAN pepwheel swissprot:VA0D2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:VA0D2_HUMAN pepwindow swissprot:VA0D2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:VA0D2_HUMAN sigcleave swissprot:VA0D2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:VA0D2_HUMAN ## Database ID URL or Descriptions # AltName NIPA3_HUMAN NIPA-like protein 1 # AltName NIPA3_HUMAN Non-imprinted in Prader-Willi/Angelman syndrome region protein 3 # ChiTaRS NIPAL1 human # Ensembl ENST00000295461 ENSP00000295461; ENSG00000163293 # ExpressionAtlas Q6NVV3 baseline and differential # FUNCTION NIPA3_HUMAN Acts as a Mg(2+) transporter. Can also transport other divalent cations such as Fe(2+), Sr(2+), Ba(2+), Mn(2+), Cu(2+) and Co(2+) but to a much less extent than Mg(2+) (By similarity). {ECO 0000250}. # GO_component GO:0016020 membrane; IBA:GO_Central. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0015095 magnesium ion transmembrane transporter activity; IEA:InterPro. # GO_process GO:0015693 magnesium ion transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # Genevisible Q6NVV3 HS # HGNC HGNC:27194 NIPAL1 # InterPro IPR008521 Mg_trans_NIPA # Organism NIPA3_HUMAN Homo sapiens (Human) # PANTHER PTHR12570 PTHR12570 # Pfam PF05653 Mg_trans_NIPA # Proteomes UP000005640 Chromosome 4 # Reactome R-HSA-5223345 Miscellaneous transport and binding events # RecName NIPA3_HUMAN Magnesium transporter NIPA3 # RefSeq NP_997213 NM_207330.2 # SIMILARITY Belongs to the NIPA family. {ECO 0000305}. # SUBCELLULAR LOCATION NIPA3_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # UCSC uc003gxw human # eggNOG ENOG410XNR8 LUCA # eggNOG KOG2922 Eukaryota BLAST swissprot:NIPA3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:NIPA3_HUMAN COXPRESdb 152519 http://coxpresdb.jp/data/gene/152519.shtml CleanEx HS_NPAL1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_NPAL1 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 EMBL AK095299 http://www.ebi.ac.uk/ena/data/view/AK095299 EMBL BC067881 http://www.ebi.ac.uk/ena/data/view/BC067881 EMBL CR749484 http://www.ebi.ac.uk/ena/data/view/CR749484 Ensembl ENST00000295461 http://www.ensembl.org/id/ENST00000295461 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0015095 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015095 GO_process GO:0015693 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015693 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GeneCards NIPAL1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=NIPAL1 GeneID 152519 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=152519 GeneTree ENSGT00550000074395 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074395 HGNC HGNC:27194 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:27194 HOGENOM HOG000203962 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000203962&db=HOGENOM6 HPA HPA036765 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA036765 InParanoid Q6NVV3 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q6NVV3 InterPro IPR008521 http://www.ebi.ac.uk/interpro/entry/IPR008521 Jabion 152519 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=152519 KEGG_Gene hsa:152519 http://www.genome.jp/dbget-bin/www_bget?hsa:152519 OMA EPCQEGY http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=EPCQEGY OrthoDB EOG091G0M8A http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0M8A PANTHER PTHR12570 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12570 PSORT swissprot:NIPA3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:NIPA3_HUMAN PSORT-B swissprot:NIPA3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:NIPA3_HUMAN PSORT2 swissprot:NIPA3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:NIPA3_HUMAN Pfam PF05653 http://pfam.xfam.org/family/PF05653 PharmGKB PA164723925 http://www.pharmgkb.org/do/serve?objId=PA164723925&objCls=Gene Phobius swissprot:NIPA3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:NIPA3_HUMAN PhylomeDB Q6NVV3 http://phylomedb.org/?seqid=Q6NVV3 ProteinModelPortal Q6NVV3 http://www.proteinmodelportal.org/query/uniprot/Q6NVV3 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 Reactome R-HSA-5223345 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5223345 RefSeq NP_997213 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_997213 STRING 9606.ENSP00000295461 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000295461&targetmode=cogs UCSC uc003gxw http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003gxw&org=rat UniGene Hs.134190 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.134190 UniProtKB NIPA3_HUMAN http://www.uniprot.org/uniprot/NIPA3_HUMAN UniProtKB-AC Q6NVV3 http://www.uniprot.org/uniprot/Q6NVV3 charge swissprot:NIPA3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:NIPA3_HUMAN eggNOG ENOG410XNR8 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XNR8 eggNOG KOG2922 http://eggnogapi.embl.de/nog_data/html/tree/KOG2922 epestfind swissprot:NIPA3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:NIPA3_HUMAN garnier swissprot:NIPA3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:NIPA3_HUMAN helixturnhelix swissprot:NIPA3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:NIPA3_HUMAN hmoment swissprot:NIPA3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:NIPA3_HUMAN iep swissprot:NIPA3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:NIPA3_HUMAN inforesidue swissprot:NIPA3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:NIPA3_HUMAN neXtProt NX_Q6NVV3 http://www.nextprot.org/db/entry/NX_Q6NVV3 octanol swissprot:NIPA3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:NIPA3_HUMAN pepcoil swissprot:NIPA3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:NIPA3_HUMAN pepdigest swissprot:NIPA3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:NIPA3_HUMAN pepinfo swissprot:NIPA3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:NIPA3_HUMAN pepnet swissprot:NIPA3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:NIPA3_HUMAN pepstats swissprot:NIPA3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:NIPA3_HUMAN pepwheel swissprot:NIPA3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:NIPA3_HUMAN pepwindow swissprot:NIPA3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:NIPA3_HUMAN sigcleave swissprot:NIPA3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:NIPA3_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S22AN_HUMAN Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=A1A5C7-1; Sequence=Displayed; Name=2; IsoId=A1A5C7-2; Sequence=VSP_028954; Name=3; IsoId=A1A5C7-3; Sequence=VSP_028955; Note=No experimental confirmation available.; Name=4; IsoId=A1A5C7-4; Sequence=VSP_028956; Note=No experimental confirmation available.; # BioGrid 121960 14 # CCDS CCDS34331 -. [A1A5C7-2] # CCDS CCDS47363 -. [A1A5C7-1] # CCDS CCDS75389 -. [A1A5C7-4] # CDD cd06174 MFS # ChiTaRS SLC22A23 human # Ensembl ENST00000380298 ENSP00000369653; ENSG00000137266. [A1A5C7-4] # Ensembl ENST00000380302 ENSP00000369657; ENSG00000137266. [A1A5C7-2] # Ensembl ENST00000406686 ENSP00000385028; ENSG00000137266. [A1A5C7-1] # Ensembl ENST00000490273 ENSP00000419463; ENSG00000137266. [A1A5C7-2] # ExpressionAtlas A1A5C7 baseline and differential # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_function GO:0008514 organic anion transmembrane transporter activity; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # Genevisible A1A5C7 HS # HGNC HGNC:21106 SLC22A23 # INTERACTION S22AN_HUMAN P60410 KRTAP10-8; NbExp=3; IntAct=EBI-10171756, EBI-10171774; P26371 KRTAP5-9; NbExp=3; IntAct=EBI-10171756, EBI-3958099; Q7Z3S9 NOTCH2NL; NbExp=3; IntAct=EBI-10171756, EBI-945833; # IntAct A1A5C7 4 # InterPro IPR005828 MFS_sugar_transport-like # InterPro IPR005829 Sugar_transporter_CS # InterPro IPR020846 MFS_dom # KEGG_Brite ko02000 Transporters # KEGG_Brite ko02001 Solute carrier family # MIM 611697 gene # Organism S22AN_HUMAN Homo sapiens (Human) # PROSITE PS00216 SUGAR_TRANSPORT_1 # PROSITE PS50850 MFS # Pfam PF00083 Sugar_tr # Proteomes UP000005640 Chromosome 6 # RecName S22AN_HUMAN Solute carrier family 22 member 23 # RefSeq NP_001273384 NM_001286455.1. [A1A5C7-2] # RefSeq NP_001273385 NM_001286456.1. [A1A5C7-4] # RefSeq NP_056297 NM_015482.1. [A1A5C7-1] # RefSeq NP_068764 NM_021945.6. [A1A5C7-2] # RefSeq XP_016866670 XM_017011181.1. [A1A5C7-2] # RefSeq XP_016866675 XM_017011186.1. [A1A5C7-2] # SEQUENCE CAUTION Sequence=BAD18753.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAI12303.1; Type=Erroneous gene model prediction; Evidence={ECO 0000305}; Sequence=CAI40959.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; # SIMILARITY Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family. {ECO 0000305}. # SUBCELLULAR LOCATION S22AN_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # SUPFAM SSF103473 SSF103473 # TCDB 2.A.1.19.28 the major facilitator superfamily (mfs) # UCSC uc003mvm human. [A1A5C7-1] # eggNOG ENOG410ZZ6M LUCA # eggNOG KOG0255 Eukaryota BLAST swissprot:S22AN_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S22AN_HUMAN COXPRESdb 63027 http://coxpresdb.jp/data/gene/63027.shtml CleanEx HS_SLC22A23 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC22A23 DOI 10.1016/j.ygeno.2007.03.017 http://dx.doi.org/10.1016/j.ygeno.2007.03.017 DOI 10.1038/nature02055 http://dx.doi.org/10.1038/nature02055 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AK172770 http://www.ebi.ac.uk/ena/data/view/AK172770 EMBL AL160398 http://www.ebi.ac.uk/ena/data/view/AL160398 EMBL AL160398 http://www.ebi.ac.uk/ena/data/view/AL160398 EMBL AL445309 http://www.ebi.ac.uk/ena/data/view/AL445309 EMBL AL445309 http://www.ebi.ac.uk/ena/data/view/AL445309 EMBL BC040876 http://www.ebi.ac.uk/ena/data/view/BC040876 EMBL BC128580 http://www.ebi.ac.uk/ena/data/view/BC128580 EMBL BC128581 http://www.ebi.ac.uk/ena/data/view/BC128581 Ensembl ENST00000380298 http://www.ensembl.org/id/ENST00000380298 Ensembl ENST00000380302 http://www.ensembl.org/id/ENST00000380302 Ensembl ENST00000406686 http://www.ensembl.org/id/ENST00000406686 Ensembl ENST00000490273 http://www.ensembl.org/id/ENST00000490273 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0008514 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008514 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GeneCards SLC22A23 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC22A23 GeneID 63027 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=63027 GeneTree ENSGT00390000014377 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000014377 H-InvDB HIX0005541 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0005541 H-InvDB HIX0005544 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0005544 HGNC HGNC:21106 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:21106 HOGENOM HOG000124569 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000124569&db=HOGENOM6 HOVERGEN HBG108437 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG108437&db=HOVERGEN HPA HPA014697 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA014697 InParanoid A1A5C7 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=A1A5C7 IntAct A1A5C7 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=A1A5C7* InterPro IPR005828 http://www.ebi.ac.uk/interpro/entry/IPR005828 InterPro IPR005829 http://www.ebi.ac.uk/interpro/entry/IPR005829 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 63027 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=63027 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:63027 http://www.genome.jp/dbget-bin/www_bget?hsa:63027 KEGG_Orthology KO:K08215 http://www.genome.jp/dbget-bin/www_bget?KO:K08215 MIM 611697 http://www.ncbi.nlm.nih.gov/omim/611697 PROSITE PS00216 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00216 PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PSORT swissprot:S22AN_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S22AN_HUMAN PSORT-B swissprot:S22AN_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S22AN_HUMAN PSORT2 swissprot:S22AN_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S22AN_HUMAN Pfam PF00083 http://pfam.xfam.org/family/PF00083 PharmGKB PA162403516 http://www.pharmgkb.org/do/serve?objId=PA162403516&objCls=Gene Phobius swissprot:S22AN_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S22AN_HUMAN PhylomeDB A1A5C7 http://phylomedb.org/?seqid=A1A5C7 ProteinModelPortal A1A5C7 http://www.proteinmodelportal.org/query/uniprot/A1A5C7 PubMed 14574404 http://www.ncbi.nlm.nih.gov/pubmed/14574404 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 17714910 http://www.ncbi.nlm.nih.gov/pubmed/17714910 RefSeq NP_001273384 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001273384 RefSeq NP_001273385 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001273385 RefSeq NP_056297 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_056297 RefSeq NP_068764 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_068764 RefSeq XP_016866670 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016866670 RefSeq XP_016866675 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016866675 STRING 9606.ENSP00000385028 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000385028&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.1.19.28 http://www.tcdb.org/search/result.php?tc=2.A.1.19.28 UCSC uc003mvm http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003mvm&org=rat UniGene Hs.713588 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.713588 UniProtKB S22AN_HUMAN http://www.uniprot.org/uniprot/S22AN_HUMAN UniProtKB-AC A1A5C7 http://www.uniprot.org/uniprot/A1A5C7 charge swissprot:S22AN_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S22AN_HUMAN eggNOG ENOG410ZZ6M http://eggnogapi.embl.de/nog_data/html/tree/ENOG410ZZ6M eggNOG KOG0255 http://eggnogapi.embl.de/nog_data/html/tree/KOG0255 epestfind swissprot:S22AN_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S22AN_HUMAN garnier swissprot:S22AN_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S22AN_HUMAN helixturnhelix swissprot:S22AN_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S22AN_HUMAN hmoment swissprot:S22AN_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S22AN_HUMAN iep swissprot:S22AN_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S22AN_HUMAN inforesidue swissprot:S22AN_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S22AN_HUMAN neXtProt NX_A1A5C7 http://www.nextprot.org/db/entry/NX_A1A5C7 octanol swissprot:S22AN_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S22AN_HUMAN pepcoil swissprot:S22AN_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S22AN_HUMAN pepdigest swissprot:S22AN_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S22AN_HUMAN pepinfo swissprot:S22AN_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S22AN_HUMAN pepnet swissprot:S22AN_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S22AN_HUMAN pepstats swissprot:S22AN_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S22AN_HUMAN pepwheel swissprot:S22AN_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S22AN_HUMAN pepwindow swissprot:S22AN_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S22AN_HUMAN sigcleave swissprot:S22AN_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S22AN_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS CLCN6_HUMAN Event=Alternative splicing; Named isoforms=6; Name=1; Synonyms=A, Clc-6a; IsoId=P51797-1; Sequence=Displayed; Name=2; Synonyms=B, ClC-6b, D2-A1; IsoId=P51797-2; Sequence=VSP_001043, VSP_001044; Name=3; Synonyms=C, ClC-6c, D1-A1; IsoId=P51797-3; Sequence=VSP_001045, VSP_001046; Name=4; Synonyms=D, ClC-6d, D1-A2; IsoId=P51797-4; Sequence=VSP_001047, VSP_001048; Name=5; IsoId=P51797-5; Sequence=VSP_017188; Note=No experimental confirmation available.; Name=6; IsoId=P51797-6; Sequence=VSP_047169; Note=No experimental confirmation available.; # AltName CLCN6_HUMAN Chloride channel protein 6 # BioGrid 107599 4 # CCDS CCDS138 -. [P51797-1] # CCDS CCDS57972 -. [P51797-6] # ChiTaRS CLCN6 human # Ensembl ENST00000312413 ENSP00000308367; ENSG00000011021. [P51797-6] # Ensembl ENST00000346436 ENSP00000234488; ENSG00000011021. [P51797-1] # Ensembl ENST00000376496 ENSP00000365679; ENSG00000011021. [P51797-5] # ExpressionAtlas P51797 baseline and differential # FUNCTION CLCN6_HUMAN Chloride transport protein, initially identified as voltage-gated chloride channel. The presence of the conserved gating glutamate residues suggests that is functions as antiporter. # GO_component GO:0005765 lysosomal membrane; IDA:UniProtKB. # GO_component GO:0010008 endosome membrane; TAS:Reactome. # GO_component GO:0016021 integral component of membrane; NAS:UniProtKB. # GO_function GO:0005247 voltage-gated chloride channel activity; NAS:UniProtKB. # GO_function GO:0005524 ATP binding; IEA:UniProtKB-KW. # GO_function GO:0015297 antiporter activity; TAS:Reactome. # GO_function GO:0031404 chloride ion binding; IBA:GO_Central. # GO_process GO:0006821 chloride transport; NAS:UniProtKB. # GO_process GO:0006884 cell volume homeostasis; NAS:UniProtKB. # GO_process GO:0007165 signal transduction; NAS:UniProtKB. # GO_process GO:0009612 response to mechanical stimulus; IEA:Ensembl. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:1902476 chloride transmembrane transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.10.3080.10 -; 2. # Genevisible P51797 HS # HGNC HGNC:2024 CLCN6 # InterPro IPR000644 CBS_dom # InterPro IPR001807 Cl-channel_volt-gated # InterPro IPR002248 Cl_channel-6 # InterPro IPR014743 Cl-channel_core # KEGG_Brite ko04040 Ion channels # MIM 602726 gene # MISCELLANEOUS The CLC channel family contains both chloride channels and proton-coupled anion transporters that exchange chloride or another anion for protons. The presence of conserved gating glutamate residues is typical for family members that function as antiporters (By similarity). {ECO 0000250}. # Organism CLCN6_HUMAN Homo sapiens (Human) # PIR S68428 S68428 # PRINTS PR00762 CLCHANNEL # PRINTS PR01117 CLCHANNEL6 # PROSITE PS51371 CBS; 2 # PTM CLCN6_HUMAN N-glycosylated on several asparagine residues. {ECO 0000269|PubMed 17534424}. # Pfam PF00571 CBS; 2 # Pfam PF00654 Voltage_CLC # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-2672351 Stimuli-sensing channels # Reactome R-HSA-6802952 Signaling by BRAF and RAF fusions # RecName CLCN6_HUMAN Chloride transport protein 6 # RefSeq NP_001243888 NM_001256959.1 # RefSeq NP_001277 NM_001286.3 # SIMILARITY Belongs to the chloride channel (TC 2.A.49) family. ClC-6/CLCN6 subfamily. {ECO 0000305}. # SIMILARITY Contains 2 CBS domains. {ECO:0000255|PROSITE- ProRule PRU00703}. # SMART SM00116 CBS; 2 # SUBCELLULAR LOCATION CLCN6_HUMAN Endosome membrane {ECO 0000269|PubMed 17534424}; Multi-pass membrane protein {ECO 0000269|PubMed 17534424}. Note=Detected in detergent- resistant lipid rafts. # SUPFAM SSF81340 SSF81340; 2 # TISSUE SPECIFICITY CLCN6_HUMAN Testis, ovary, small intestine, brain and skeletal muscle. Low level expression in aortic and coronary vascular smooth muscle cells, and aortic endothelial cells. Isoform 3 is only detected in kidney. {ECO 0000269|PubMed 10198195, ECO 0000269|PubMed 8543009, ECO 0000269|PubMed 9224655}. # UCSC uc001ate human. [P51797-1] # eggNOG COG0038 LUCA # eggNOG KOG0474 Eukaryota BLAST swissprot:CLCN6_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CLCN6_HUMAN BioCyc ZFISH:ENSG00000011021-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000011021-MONOMER COXPRESdb 1185 http://coxpresdb.jp/data/gene/1185.shtml DOI 10.1006/jmcc.1998.0901 http://dx.doi.org/10.1006/jmcc.1998.0901 DOI 10.1016/0014-5793(95)01298-2 http://dx.doi.org/10.1016/0014-5793(95)01298-2 DOI 10.1016/S0167-4781(99)00128-1 http://dx.doi.org/10.1016/S0167-4781(99)00128-1 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1042/bj3250269 http://dx.doi.org/10.1042/bj3250269 DOI 10.1093/dnares/1.5.223 http://dx.doi.org/10.1093/dnares/1.5.223 DOI 10.1093/dnares/9.3.99 http://dx.doi.org/10.1093/dnares/9.3.99 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1371/journal.pone.0000474 http://dx.doi.org/10.1371/journal.pone.0000474 EMBL AF009247 http://www.ebi.ac.uk/ena/data/view/AF009247 EMBL AF009248 http://www.ebi.ac.uk/ena/data/view/AF009248 EMBL AF009249 http://www.ebi.ac.uk/ena/data/view/AF009249 EMBL AF009250 http://www.ebi.ac.uk/ena/data/view/AF009250 EMBL AF009251 http://www.ebi.ac.uk/ena/data/view/AF009251 EMBL AF009252 http://www.ebi.ac.uk/ena/data/view/AF009252 EMBL AF009253 http://www.ebi.ac.uk/ena/data/view/AF009253 EMBL AF009254 http://www.ebi.ac.uk/ena/data/view/AF009254 EMBL AF009255 http://www.ebi.ac.uk/ena/data/view/AF009255 EMBL AF009256 http://www.ebi.ac.uk/ena/data/view/AF009256 EMBL AF009257 http://www.ebi.ac.uk/ena/data/view/AF009257 EMBL AK289999 http://www.ebi.ac.uk/ena/data/view/AK289999 EMBL AK294764 http://www.ebi.ac.uk/ena/data/view/AK294764 EMBL AL021155 http://www.ebi.ac.uk/ena/data/view/AL021155 EMBL AL021155 http://www.ebi.ac.uk/ena/data/view/AL021155 EMBL AL021155 http://www.ebi.ac.uk/ena/data/view/AL021155 EMBL AL021155 http://www.ebi.ac.uk/ena/data/view/AL021155 EMBL AL021155 http://www.ebi.ac.uk/ena/data/view/AL021155 EMBL AL021155 http://www.ebi.ac.uk/ena/data/view/AL021155 EMBL AL021155 http://www.ebi.ac.uk/ena/data/view/AL021155 EMBL AL021155 http://www.ebi.ac.uk/ena/data/view/AL021155 EMBL AL021155 http://www.ebi.ac.uk/ena/data/view/AL021155 EMBL AL021155 http://www.ebi.ac.uk/ena/data/view/AL021155 EMBL AL953897 http://www.ebi.ac.uk/ena/data/view/AL953897 EMBL AL953897 http://www.ebi.ac.uk/ena/data/view/AL953897 EMBL AL953897 http://www.ebi.ac.uk/ena/data/view/AL953897 EMBL AL953897 http://www.ebi.ac.uk/ena/data/view/AL953897 EMBL AL953897 http://www.ebi.ac.uk/ena/data/view/AL953897 EMBL AL953897 http://www.ebi.ac.uk/ena/data/view/AL953897 EMBL AL953897 http://www.ebi.ac.uk/ena/data/view/AL953897 EMBL AL953897 http://www.ebi.ac.uk/ena/data/view/AL953897 EMBL AL953897 http://www.ebi.ac.uk/ena/data/view/AL953897 EMBL AL953897 http://www.ebi.ac.uk/ena/data/view/AL953897 EMBL BC117420 http://www.ebi.ac.uk/ena/data/view/BC117420 EMBL BC117424 http://www.ebi.ac.uk/ena/data/view/BC117424 EMBL CH471130 http://www.ebi.ac.uk/ena/data/view/CH471130 EMBL D28475 http://www.ebi.ac.uk/ena/data/view/D28475 EMBL X83378 http://www.ebi.ac.uk/ena/data/view/X83378 EMBL X96391 http://www.ebi.ac.uk/ena/data/view/X96391 EMBL X99472 http://www.ebi.ac.uk/ena/data/view/X99472 EMBL X99473 http://www.ebi.ac.uk/ena/data/view/X99473 EMBL X99474 http://www.ebi.ac.uk/ena/data/view/X99474 EMBL X99475 http://www.ebi.ac.uk/ena/data/view/X99475 Ensembl ENST00000312413 http://www.ensembl.org/id/ENST00000312413 Ensembl ENST00000346436 http://www.ensembl.org/id/ENST00000346436 Ensembl ENST00000376496 http://www.ensembl.org/id/ENST00000376496 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005765 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005765 GO_component GO:0010008 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010008 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005247 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005247 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0015297 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015297 GO_function GO:0031404 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031404 GO_process GO:0006821 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006821 GO_process GO:0006884 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006884 GO_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GO_process GO:0009612 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009612 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:1902476 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902476 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.10.3080.10 http://www.cathdb.info/version/latest/superfamily/1.10.3080.10 GeneCards CLCN6 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CLCN6 GeneID 1185 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=1185 GeneTree ENSGT00760000119109 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119109 HGNC HGNC:2024 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:2024 HOVERGEN HBG050985 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050985&db=HOVERGEN HPA HPA032097 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA032097 InParanoid P51797 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P51797 IntAct P51797 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P51797* InterPro IPR000644 http://www.ebi.ac.uk/interpro/entry/IPR000644 InterPro IPR001807 http://www.ebi.ac.uk/interpro/entry/IPR001807 InterPro IPR002248 http://www.ebi.ac.uk/interpro/entry/IPR002248 InterPro IPR014743 http://www.ebi.ac.uk/interpro/entry/IPR014743 Jabion 1185 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=1185 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:1185 http://www.genome.jp/dbget-bin/www_bget?hsa:1185 KEGG_Orthology KO:K05015 http://www.genome.jp/dbget-bin/www_bget?KO:K05015 MIM 602726 http://www.ncbi.nlm.nih.gov/omim/602726 OMA ESMDNKK http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=ESMDNKK OrthoDB EOG091G01HL http://cegg.unige.ch/orthodb/results?searchtext=EOG091G01HL PRINTS PR00762 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00762 PRINTS PR01117 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01117 PROSITE PS51371 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51371 PSORT swissprot:CLCN6_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CLCN6_HUMAN PSORT-B swissprot:CLCN6_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CLCN6_HUMAN PSORT2 swissprot:CLCN6_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CLCN6_HUMAN Pfam PF00571 http://pfam.xfam.org/family/PF00571 Pfam PF00654 http://pfam.xfam.org/family/PF00654 PharmGKB PA26551 http://www.pharmgkb.org/do/serve?objId=PA26551&objCls=Gene Phobius swissprot:CLCN6_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CLCN6_HUMAN PhylomeDB P51797 http://phylomedb.org/?seqid=P51797 ProteinModelPortal P51797 http://www.proteinmodelportal.org/query/uniprot/P51797 PubMed 10198195 http://www.ncbi.nlm.nih.gov/pubmed/10198195 PubMed 10500249 http://www.ncbi.nlm.nih.gov/pubmed/10500249 PubMed 12168954 http://www.ncbi.nlm.nih.gov/pubmed/12168954 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 17534424 http://www.ncbi.nlm.nih.gov/pubmed/17534424 PubMed 7584044 http://www.ncbi.nlm.nih.gov/pubmed/7584044 PubMed 8543009 http://www.ncbi.nlm.nih.gov/pubmed/8543009 PubMed 9224655 http://www.ncbi.nlm.nih.gov/pubmed/9224655 Reactome R-HSA-2672351 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2672351 Reactome R-HSA-6802952 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6802952 RefSeq NP_001243888 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001243888 RefSeq NP_001277 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001277 SMART SM00116 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00116 STRING 9606.ENSP00000234488 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000234488&targetmode=cogs SUPFAM SSF81340 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81340 UCSC uc001ate http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001ate&org=rat UniGene Hs.193043 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.193043 UniProtKB CLCN6_HUMAN http://www.uniprot.org/uniprot/CLCN6_HUMAN UniProtKB-AC P51797 http://www.uniprot.org/uniprot/P51797 charge swissprot:CLCN6_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CLCN6_HUMAN eggNOG COG0038 http://eggnogapi.embl.de/nog_data/html/tree/COG0038 eggNOG KOG0474 http://eggnogapi.embl.de/nog_data/html/tree/KOG0474 epestfind swissprot:CLCN6_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CLCN6_HUMAN garnier swissprot:CLCN6_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CLCN6_HUMAN helixturnhelix swissprot:CLCN6_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CLCN6_HUMAN hmoment swissprot:CLCN6_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CLCN6_HUMAN iep swissprot:CLCN6_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CLCN6_HUMAN inforesidue swissprot:CLCN6_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CLCN6_HUMAN neXtProt NX_P51797 http://www.nextprot.org/db/entry/NX_P51797 octanol swissprot:CLCN6_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CLCN6_HUMAN pepcoil swissprot:CLCN6_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CLCN6_HUMAN pepdigest swissprot:CLCN6_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CLCN6_HUMAN pepinfo swissprot:CLCN6_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CLCN6_HUMAN pepnet swissprot:CLCN6_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CLCN6_HUMAN pepstats swissprot:CLCN6_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CLCN6_HUMAN pepwheel swissprot:CLCN6_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CLCN6_HUMAN pepwindow swissprot:CLCN6_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CLCN6_HUMAN sigcleave swissprot:CLCN6_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CLCN6_HUMAN ## Database ID URL or Descriptions # AltName TRPV2_HUMAN Osm-9-like TRP channel 2 # AltName TRPV2_HUMAN Vanilloid receptor-like protein 1 # Ensembl ENST00000338560 ENSP00000342222; ENSG00000187688 # ExpressionAtlas Q9Y5S1 baseline and differential # FUNCTION TRPV2_HUMAN Calcium-permeable, non-selective cation channel with an outward rectification. Seems to be regulated, at least in part, by IGF-I, PDGF and neuropeptide head activator. May transduce physical stimuli in mast cells. Activated by temperatures higher than 52 degrees Celsius; is not activated by vanilloids and acidic pH. {ECO 0000269|PubMed 10201375}. # GO_component GO:0005886 plasma membrane; IDA:MGI. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0009986 cell surface; IEA:Ensembl. # GO_component GO:0032584 growth cone membrane; IEA:Ensembl. # GO_component GO:0042470 melanosome; IEA:UniProtKB-SubCell. # GO_component GO:0044295 axonal growth cone; IEA:Ensembl. # GO_component GO:0044297 cell body; IEA:Ensembl. # GO_function GO:0005216 ion channel activity; TAS:ProtInc. # GO_function GO:0005261 cation channel activity; IDA:MGI. # GO_function GO:0005262 calcium channel activity; IBA:GO_Central. # GO_function GO:0015075 ion transmembrane transporter activity; TAS:ProtInc. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0007600 sensory perception; TAS:ProtInc. # GO_process GO:0009266 response to temperature stimulus; IDA:MGI. # GO_process GO:0009408 response to heat; IEA:InterPro. # GO_process GO:0045773 positive regulation of axon extension; IEA:Ensembl. # GO_process GO:0070588 calcium ion transmembrane transport; TAS:Reactome. # GO_process GO:0090280 positive regulation of calcium ion import; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0031410 cytoplasmic vesicle # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0008150 biological_process # GOslim_process GO:0050877 neurological system process # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.25.40.20 -; 2. # Genevisible Q9Y5S1 HS # HGNC HGNC:18082 TRPV2 # IntAct Q9Y5S1 7 # InterPro IPR002110 Ankyrin_rpt # InterPro IPR004729 TRP_channel # InterPro IPR005821 Ion_trans_dom # InterPro IPR008347 TRPV1-4_channel # InterPro IPR020683 Ankyrin_rpt-contain_dom # InterPro IPR024865 TRPV2_channel # KEGG_Brite ko04040 Ion channels # MIM 606676 gene # Organism TRPV2_HUMAN Homo sapiens (Human) # PANTHER PTHR10582:SF5 PTHR10582:SF5; 2 # PDB 2F37 X-ray; 1.70 A; A/B=69-319 # PRINTS PR01768 TRPVRECEPTOR # PROSITE PS50088 ANK_REPEAT # PROSITE PS50297 ANK_REP_REGION # PTM TRPV2_HUMAN N-glycosylated. {ECO 0000250}. # PTM TRPV2_HUMAN Phosphorylated by PKA. {ECO 0000250}. # Pfam PF00520 Ion_trans # Pfam PF12796 Ank_2 # Proteomes UP000005640 Chromosome 17 # Reactome R-HSA-3295583 TRP channels # RecName TRPV2_HUMAN Transient receptor potential cation channel subfamily V member 2 # RefSeq NP_057197 NM_016113.4 # SIMILARITY Belongs to the transient receptor (TC 1.A.4) family. TrpV subfamily. TRPV2 sub-subfamily. {ECO 0000305}. # SIMILARITY Contains 6 ANK repeats. {ECO:0000255|PROSITE- ProRule PRU00023}. # SMART SM00248 ANK; 4 # SUBCELLULAR LOCATION TRPV2_HUMAN Cell membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. Cytoplasm {ECO 0000250}. Melanosome {ECO 0000269|PubMed 17081065}. Note=Translocates from the cytoplasm to the plasma membrane upon ligand stimulation (By similarity). Identified by mass spectrometry in melanosome fractions from stage I to stage IV. {ECO 0000250}. # SUBUNIT Homotetramer (Probable). Interacts with a cAMP-dependent protein kinase type II regulatory subunit (PRKAR2A or PRKAR2B) and ACBD3. Interacts with SLC50A1; the interaction probably occurs intracellularly and depends on TRPV2 N-glycosylation (By similarity). {ECO:0000250, ECO 0000305}. # SUPFAM SSF48403 SSF48403 # TCDB 1.A.4.2 the transient receptor potential ca(2+) channel (trp-cc) family # TIGRFAMs TIGR00870 trp # UCSC uc002gpy human # WEB RESOURCE TRPV2_HUMAN Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http //atlasgeneticsoncology.org/Genes/TRPV2ID45817ch17p11.html"; # eggNOG ENOG4110DG4 LUCA # eggNOG KOG3676 Eukaryota BLAST swissprot:TRPV2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:TRPV2_HUMAN BioCyc ZFISH:G66-30851-MONOMER http://biocyc.org/getid?id=ZFISH:G66-30851-MONOMER COXPRESdb 51393 http://coxpresdb.jp/data/gene/51393.shtml CleanEx HS_TRPV2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_TRPV2 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/pr060363j http://dx.doi.org/10.1021/pr060363j DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/18906 http://dx.doi.org/10.1038/18906 DOI 10.1038/nature04689 http://dx.doi.org/10.1038/nature04689 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1110/ps.062357206 http://dx.doi.org/10.1110/ps.062357206 EMBL AC093484 http://www.ebi.ac.uk/ena/data/view/AC093484 EMBL AF103906 http://www.ebi.ac.uk/ena/data/view/AF103906 EMBL AF129112 http://www.ebi.ac.uk/ena/data/view/AF129112 EMBL AJ487963 http://www.ebi.ac.uk/ena/data/view/AJ487963 EMBL AK289705 http://www.ebi.ac.uk/ena/data/view/AK289705 EMBL BC018926 http://www.ebi.ac.uk/ena/data/view/BC018926 EMBL BC051305 http://www.ebi.ac.uk/ena/data/view/BC051305 EMBL CH471222 http://www.ebi.ac.uk/ena/data/view/CH471222 Ensembl ENST00000338560 http://www.ensembl.org/id/ENST00000338560 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0009986 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009986 GO_component GO:0032584 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032584 GO_component GO:0042470 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042470 GO_component GO:0044295 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044295 GO_component GO:0044297 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044297 GO_function GO:0005216 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005216 GO_function GO:0005261 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005261 GO_function GO:0005262 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005262 GO_function GO:0015075 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015075 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0007600 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007600 GO_process GO:0009266 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009266 GO_process GO:0009408 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009408 GO_process GO:0045773 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045773 GO_process GO:0070588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070588 GO_process GO:0090280 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090280 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0031410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.25.40.20 http://www.cathdb.info/version/latest/superfamily/1.25.40.20 GeneCards TRPV2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=TRPV2 GeneID 51393 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=51393 GeneTree ENSGT00550000074425 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074425 HGNC HGNC:18082 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:18082 HOGENOM HOG000234630 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000234630&db=HOGENOM6 HOVERGEN HBG054085 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG054085&db=HOVERGEN HPA HPA044993 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA044993 InParanoid Q9Y5S1 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9Y5S1 IntAct Q9Y5S1 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9Y5S1* InterPro IPR002110 http://www.ebi.ac.uk/interpro/entry/IPR002110 InterPro IPR004729 http://www.ebi.ac.uk/interpro/entry/IPR004729 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR008347 http://www.ebi.ac.uk/interpro/entry/IPR008347 InterPro IPR020683 http://www.ebi.ac.uk/interpro/entry/IPR020683 InterPro IPR024865 http://www.ebi.ac.uk/interpro/entry/IPR024865 Jabion 51393 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=51393 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:51393 http://www.genome.jp/dbget-bin/www_bget?hsa:51393 KEGG_Orthology KO:K04971 http://www.genome.jp/dbget-bin/www_bget?KO:K04971 MIM 606676 http://www.ncbi.nlm.nih.gov/omim/606676 OMA ICVLEME http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=ICVLEME OrthoDB EOG091G02AF http://cegg.unige.ch/orthodb/results?searchtext=EOG091G02AF PANTHER PTHR10582:SF5 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10582:SF5 PDB 2F37 http://www.ebi.ac.uk/pdbe-srv/view/entry/2F37 PDBsum 2F37 http://www.ebi.ac.uk/pdbsum/2F37 PRINTS PR01768 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01768 PROSITE PS50088 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50088 PROSITE PS50297 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50297 PSORT swissprot:TRPV2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:TRPV2_HUMAN PSORT-B swissprot:TRPV2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:TRPV2_HUMAN PSORT2 swissprot:TRPV2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:TRPV2_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF12796 http://pfam.xfam.org/family/PF12796 PharmGKB PA38292 http://www.pharmgkb.org/do/serve?objId=PA38292&objCls=Gene Phobius swissprot:TRPV2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:TRPV2_HUMAN PhylomeDB Q9Y5S1 http://phylomedb.org/?seqid=Q9Y5S1 ProteinModelPortal Q9Y5S1 http://www.proteinmodelportal.org/query/uniprot/Q9Y5S1 PubMed 10201375 http://www.ncbi.nlm.nih.gov/pubmed/10201375 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16625196 http://www.ncbi.nlm.nih.gov/pubmed/16625196 PubMed 16882997 http://www.ncbi.nlm.nih.gov/pubmed/16882997 PubMed 17081065 http://www.ncbi.nlm.nih.gov/pubmed/17081065 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 Reactome R-HSA-3295583 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-3295583 RefSeq NP_057197 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_057197 SMART SM00248 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00248 SMR Q9Y5S1 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9Y5S1 STRING 9606.ENSP00000342222 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000342222&targetmode=cogs SUPFAM SSF48403 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48403 TCDB 1.A.4.2 http://www.tcdb.org/search/result.php?tc=1.A.4.2 TIGRFAMs TIGR00870 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00870 UCSC uc002gpy http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002gpy&org=rat UniGene Hs.279746 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.279746 UniProtKB TRPV2_HUMAN http://www.uniprot.org/uniprot/TRPV2_HUMAN UniProtKB-AC Q9Y5S1 http://www.uniprot.org/uniprot/Q9Y5S1 charge swissprot:TRPV2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:TRPV2_HUMAN eggNOG ENOG4110DG4 http://eggnogapi.embl.de/nog_data/html/tree/ENOG4110DG4 eggNOG KOG3676 http://eggnogapi.embl.de/nog_data/html/tree/KOG3676 epestfind swissprot:TRPV2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:TRPV2_HUMAN garnier swissprot:TRPV2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:TRPV2_HUMAN helixturnhelix swissprot:TRPV2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:TRPV2_HUMAN hmoment swissprot:TRPV2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:TRPV2_HUMAN iep swissprot:TRPV2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:TRPV2_HUMAN inforesidue swissprot:TRPV2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:TRPV2_HUMAN neXtProt NX_Q9Y5S1 http://www.nextprot.org/db/entry/NX_Q9Y5S1 octanol swissprot:TRPV2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:TRPV2_HUMAN pepcoil swissprot:TRPV2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:TRPV2_HUMAN pepdigest swissprot:TRPV2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:TRPV2_HUMAN pepinfo swissprot:TRPV2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:TRPV2_HUMAN pepnet swissprot:TRPV2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:TRPV2_HUMAN pepstats swissprot:TRPV2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:TRPV2_HUMAN pepwheel swissprot:TRPV2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:TRPV2_HUMAN pepwindow swissprot:TRPV2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:TRPV2_HUMAN sigcleave swissprot:TRPV2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:TRPV2_HUMAN ## Database ID URL or Descriptions # AltName ATP4B_HUMAN Gastric H(+)/K(+) ATPase subunit beta # AltName ATP4B_HUMAN Proton pump beta chain # BioGrid 106986 4 # DOMAIN ATP4B_HUMAN The C-terminal lobe folds into an immunoglobulin-like domain and mediates cell adhesion properties. {ECO 0000269|PubMed 19694409}. # Ensembl ENST00000335288 ENSP00000334216; ENSG00000186009 # FUNCTION ATP4B_HUMAN Required for stabilization and maturation of the catalytic proton pump alpha subunit and may also involved in cell adhesion and establishing epithelial cell polarity. {ECO 0000269|PubMed 19694409}. # GO_component ATP4B_HUMAN GO 0005890 sodium potassium-exchanging ATPase complex; IEA InterPro. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_function ATP4B_HUMAN GO 0008900 hydrogen potassium-exchanging ATPase activity; TAS ProtInc. # GO_process GO:0006814 sodium ion transport; IEA:InterPro. # GO_process GO:0007155 cell adhesion; IEA:UniProtKB-KW. # GO_process GO:0010243 response to organonitrogen compound; IEA:Ensembl. # GO_process GO:0032496 response to lipopolysaccharide; IEA:Ensembl. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007155 cell adhesion # GOslim_process GO:0008150 biological_process # GOslim_process GO:0055085 transmembrane transport # Genevisible P51164 HS # HGNC HGNC:820 ATP4B # INTERACTION ATP4B_HUMAN O95273 CCNDBP1; NbExp=3; IntAct=EBI-3904463, EBI-748961; # IntAct P51164 3 # InterPro IPR000402 Na/K_ATPase_sub_beta # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko01000 Enzymes # KEGG_Pathway ko00190 Oxidative phosphorylation # KEGG_Pathway ko04966 Collecting duct acid secretion # KEGG_Pathway ko04971 Gastric acid secretion # MIM 137217 gene # Organism ATP4B_HUMAN Homo sapiens (Human) # PIR JH0480 JH0480 # PROSITE PS00390 ATPASE_NA_K_BETA_1 # PROSITE PS00391 ATPASE_NA_K_BETA_2 # Pfam PF00287 Na_K-ATPase # Proteomes UP000005640 Chromosome 13 # Reactome R-HSA-936837 Ion transport by P-type ATPases # RecName ATP4B_HUMAN Potassium-transporting ATPase subunit beta # RefSeq NP_000696 NM_000705.3 # SIMILARITY Belongs to the X(+)/potassium ATPases subunit beta family. {ECO 0000305}. # SUBCELLULAR LOCATION ATP4B_HUMAN Cell membrane; Single-pass type II membrane protein. # SUBUNIT Composed of two subunits alpha (catalytic) and beta. # TCDB 3.A.3.1 the p-type atpase (p-atpase) superfamily # TIGRFAMs TIGR01107 Na_K_ATPase_bet # UCSC uc001vtz human # eggNOG ENOG411150A LUCA # eggNOG KOG3927 Eukaryota BLAST swissprot:ATP4B_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ATP4B_HUMAN BioCyc MetaCyc:G66-33511-MONOMER http://biocyc.org/getid?id=MetaCyc:G66-33511-MONOMER BioCyc ZFISH:G66-33511-MONOMER http://biocyc.org/getid?id=ZFISH:G66-33511-MONOMER COXPRESdb 496 http://coxpresdb.jp/data/gene/496.shtml CleanEx HS_ATP4B http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ATP4B DOI 10.1016/S0006-291X(05)81251-3 http://dx.doi.org/10.1016/S0006-291X(05)81251-3 DOI 10.1016/S0014-5793(97)01017-X http://dx.doi.org/10.1016/S0014-5793(97)01017-X DOI 10.1021/bi900868e http://dx.doi.org/10.1021/bi900868e DOI 10.1038/nature02379 http://dx.doi.org/10.1038/nature02379 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AB008783 http://www.ebi.ac.uk/ena/data/view/AB008783 EMBL BC029059 http://www.ebi.ac.uk/ena/data/view/BC029059 EMBL BX537316 http://www.ebi.ac.uk/ena/data/view/BX537316 EMBL CH471085 http://www.ebi.ac.uk/ena/data/view/CH471085 EMBL M75110 http://www.ebi.ac.uk/ena/data/view/M75110 Ensembl ENST00000335288 http://www.ensembl.org/id/ENST00000335288 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005890 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005890 GO_function GO:0008900 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008900 GO_process GO:0006814 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006814 GO_process GO:0007155 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007155 GO_process GO:0010243 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010243 GO_process GO:0032496 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032496 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007155 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007155 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards ATP4B http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ATP4B GeneID 496 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=496 GeneTree ENSGT00550000074530 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074530 HGNC HGNC:820 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:820 HOGENOM HOG000039248 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000039248&db=HOGENOM6 HOVERGEN HBG050603 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050603&db=HOVERGEN HPA HPA045400 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA045400 HPA HPA052649 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA052649 InParanoid P51164 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P51164 IntAct P51164 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P51164* InterPro IPR000402 http://www.ebi.ac.uk/interpro/entry/IPR000402 Jabion 496 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=496 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Gene hsa:496 http://www.genome.jp/dbget-bin/www_bget?hsa:496 KEGG_Orthology KO:K01543 http://www.genome.jp/dbget-bin/www_bget?KO:K01543 KEGG_Pathway ko00190 http://www.genome.jp/kegg-bin/show_pathway?ko00190 KEGG_Pathway ko04966 http://www.genome.jp/kegg-bin/show_pathway?ko04966 KEGG_Pathway ko04971 http://www.genome.jp/kegg-bin/show_pathway?ko04971 MIM 137217 http://www.ncbi.nlm.nih.gov/omim/137217 OMA CKFTADM http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=CKFTADM OrthoDB EOG091G0DJ4 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0DJ4 PROSITE PS00390 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00390 PROSITE PS00391 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00391 PSORT swissprot:ATP4B_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ATP4B_HUMAN PSORT-B swissprot:ATP4B_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ATP4B_HUMAN PSORT2 swissprot:ATP4B_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ATP4B_HUMAN Pfam PF00287 http://pfam.xfam.org/family/PF00287 PharmGKB PA25114 http://www.pharmgkb.org/do/serve?objId=PA25114&objCls=Gene Phobius swissprot:ATP4B_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ATP4B_HUMAN PhylomeDB P51164 http://phylomedb.org/?seqid=P51164 ProteinModelPortal P51164 http://www.proteinmodelportal.org/query/uniprot/P51164 PubMed 15057823 http://www.ncbi.nlm.nih.gov/pubmed/15057823 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 1656976 http://www.ncbi.nlm.nih.gov/pubmed/1656976 PubMed 19694409 http://www.ncbi.nlm.nih.gov/pubmed/19694409 PubMed 9315713 http://www.ncbi.nlm.nih.gov/pubmed/9315713 Reactome R-HSA-936837 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-936837 RefSeq NP_000696 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000696 STRING 9606.ENSP00000334216 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000334216&targetmode=cogs TCDB 3.A.3.1 http://www.tcdb.org/search/result.php?tc=3.A.3.1 TIGRFAMs TIGR01107 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01107 UCSC uc001vtz http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001vtz&org=rat UniGene Hs.434202 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.434202 UniProtKB ATP4B_HUMAN http://www.uniprot.org/uniprot/ATP4B_HUMAN UniProtKB-AC P51164 http://www.uniprot.org/uniprot/P51164 charge swissprot:ATP4B_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ATP4B_HUMAN eggNOG ENOG411150A http://eggnogapi.embl.de/nog_data/html/tree/ENOG411150A eggNOG KOG3927 http://eggnogapi.embl.de/nog_data/html/tree/KOG3927 epestfind swissprot:ATP4B_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ATP4B_HUMAN garnier swissprot:ATP4B_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ATP4B_HUMAN helixturnhelix swissprot:ATP4B_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ATP4B_HUMAN hmoment swissprot:ATP4B_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ATP4B_HUMAN iep swissprot:ATP4B_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ATP4B_HUMAN inforesidue swissprot:ATP4B_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ATP4B_HUMAN neXtProt NX_P51164 http://www.nextprot.org/db/entry/NX_P51164 octanol swissprot:ATP4B_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ATP4B_HUMAN pepcoil swissprot:ATP4B_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ATP4B_HUMAN pepdigest swissprot:ATP4B_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ATP4B_HUMAN pepinfo swissprot:ATP4B_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ATP4B_HUMAN pepnet swissprot:ATP4B_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ATP4B_HUMAN pepstats swissprot:ATP4B_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ATP4B_HUMAN pepwheel swissprot:ATP4B_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ATP4B_HUMAN pepwindow swissprot:ATP4B_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ATP4B_HUMAN sigcleave swissprot:ATP4B_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ATP4B_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS ATP5S_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q99766-1; Sequence=Displayed; Name=2; IsoId=Q99766-2; Sequence=VSP_040059, VSP_040062; Name=3; IsoId=Q99766-3; Sequence=VSP_040060, VSP_040061; # AltName ATP5S_HUMAN ATP synthase-coupling factor B # AltName ATP5S_HUMAN Mitochondrial ATP synthase regulatory component factor B # BioGrid 118006 15 # CAUTION It is uncertain whether Met-1 or Met-16 is the initiator. {ECO 0000305}. # CCDS CCDS32075 -. [Q99766-1] # CCDS CCDS32076 -. [Q99766-3] # CCDS CCDS45102 -. [Q99766-2] # ChiTaRS ATP5S human # Ensembl ENST00000245448 ENSP00000245448; ENSG00000125375. [Q99766-3] # Ensembl ENST00000311459 ENSP00000308334; ENSG00000125375. [Q99766-1] # Ensembl ENST00000426751 ENSP00000389246; ENSG00000125375. [Q99766-2] # ExpressionAtlas Q99766 baseline and differential # FUNCTION ATP5S_HUMAN Involved in regulation of mitochondrial membrane ATP synthase. Necessary for H(+) conduction of ATP synthase. Facilitates energy-driven catalysis of ATP synthesis by blocking a proton leak through an alternative proton exit pathway (By similarity). {ECO 0000250}. # GO_component GO:0005743 mitochondrial inner membrane; TAS:Reactome. # GO_component GO:0045263 proton-transporting ATP synthase complex, coupling factor F(o); IEA:UniProtKB-KW. # GO_function GO:0015078 hydrogen ion transmembrane transporter activity; NAS:UniProtKB. # GO_function GO:0046872 metal ion binding; IEA:UniProtKB-KW. # GO_process GO:0006754 ATP biosynthetic process; TAS:Reactome. # GO_process GO:0015992 proton transport; NAS:UniProtKB. # GO_process GO:0042776 mitochondrial ATP synthesis coupled proton transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0043234 protein complex # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0044281 small molecule metabolic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 3.80.10.10 -; 1. # Genevisible Q99766 HS # HGNC HGNC:18799 ATP5S # IntAct Q99766 12 # InterPro IPR026063 ATP_synth_s # InterPro IPR032675 L_dom-like # Organism ATP5S_HUMAN Homo sapiens (Human) # PANTHER PTHR13382 PTHR13382 # Proteomes UP000005640 Chromosome 14 # Reactome R-HSA-163210 Formation of ATP by chemiosmotic coupling # RecName ATP5S_HUMAN ATP synthase subunit s, mitochondrial # RefSeq NP_001003803 NM_001003803.2. [Q99766-1] # RefSeq NP_001003805 NM_001003805.2. [Q99766-3] # RefSeq NP_056499 NM_015684.3. [Q99766-2] # RefSeq XP_011534958 XM_011536656.2. [Q99766-2] # SIMILARITY Belongs to the ATP synthase subunit s family. {ECO 0000305}. # SIMILARITY Contains 4 LRR (leucine-rich) repeats. {ECO 0000305}. # SUBCELLULAR LOCATION ATP5S_HUMAN Mitochondrion {ECO 0000250}. Mitochondrion inner membrane {ECO 0000250}. # SUBUNIT Homotetramer. Associates with ATP synthase (By similarity). {ECO 0000250}. # UCSC uc001wxv human. [Q99766-1] # eggNOG ENOG4110375 LUCA # eggNOG KOG3864 Eukaryota BLAST swissprot:ATP5S_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ATP5S_HUMAN BioCyc ZFISH:HS04877-MONOMER http://biocyc.org/getid?id=ZFISH:HS04877-MONOMER COXPRESdb 27109 http://coxpresdb.jp/data/gene/27109.shtml CleanEx HS_ATP5S http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ATP5S DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1038/nature01348 http://dx.doi.org/10.1038/nature01348 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.M111256200 http://dx.doi.org/10.1074/jbc.M111256200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AK290008 http://www.ebi.ac.uk/ena/data/view/AK290008 EMBL AL359397 http://www.ebi.ac.uk/ena/data/view/AL359397 EMBL AY052377 http://www.ebi.ac.uk/ena/data/view/AY052377 EMBL BC011549 http://www.ebi.ac.uk/ena/data/view/BC011549 EMBL CH471078 http://www.ebi.ac.uk/ena/data/view/CH471078 EMBL CH471078 http://www.ebi.ac.uk/ena/data/view/CH471078 EMBL U79253 http://www.ebi.ac.uk/ena/data/view/U79253 Ensembl ENST00000245448 http://www.ensembl.org/id/ENST00000245448 Ensembl ENST00000311459 http://www.ensembl.org/id/ENST00000311459 Ensembl ENST00000426751 http://www.ensembl.org/id/ENST00000426751 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0045263 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045263 GO_function GO:0015078 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015078 GO_function GO:0046872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046872 GO_process GO:0006754 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006754 GO_process GO:0015992 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015992 GO_process GO:0042776 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042776 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 3.80.10.10 http://www.cathdb.info/version/latest/superfamily/3.80.10.10 GeneCards ATP5S http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ATP5S GeneID 27109 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=27109 GeneTree ENSGT00530000063680 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000063680 HGNC HGNC:18799 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:18799 HOGENOM HOG000230741 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000230741&db=HOGENOM6 HOVERGEN HBG050615 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050615&db=HOVERGEN HPA HPA046967 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA046967 HPA HPA062690 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA062690 InParanoid Q99766 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q99766 IntAct Q99766 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q99766* InterPro IPR026063 http://www.ebi.ac.uk/interpro/entry/IPR026063 InterPro IPR032675 http://www.ebi.ac.uk/interpro/entry/IPR032675 Jabion 27109 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=27109 KEGG_Gene hsa:27109 http://www.genome.jp/dbget-bin/www_bget?hsa:27109 KEGG_Orthology KO:K07554 http://www.genome.jp/dbget-bin/www_bget?KO:K07554 OMA CDIKATK http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=CDIKATK PANTHER PTHR13382 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR13382 PSORT swissprot:ATP5S_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ATP5S_HUMAN PSORT-B swissprot:ATP5S_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ATP5S_HUMAN PSORT2 swissprot:ATP5S_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ATP5S_HUMAN Phobius swissprot:ATP5S_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ATP5S_HUMAN PhylomeDB Q99766 http://phylomedb.org/?seqid=Q99766 ProteinModelPortal Q99766 http://www.proteinmodelportal.org/query/uniprot/Q99766 PubMed 11744738 http://www.ncbi.nlm.nih.gov/pubmed/11744738 PubMed 12508121 http://www.ncbi.nlm.nih.gov/pubmed/12508121 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 9110174 http://www.ncbi.nlm.nih.gov/pubmed/9110174 Reactome R-HSA-163210 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-163210 RefSeq NP_001003803 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001003803 RefSeq NP_001003805 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001003805 RefSeq NP_056499 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_056499 RefSeq XP_011534958 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011534958 SMR Q99766 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q99766 STRING 9606.ENSP00000308334 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000308334&targetmode=cogs UCSC uc001wxv http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001wxv&org=rat UniGene Hs.438489 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.438489 UniProtKB ATP5S_HUMAN http://www.uniprot.org/uniprot/ATP5S_HUMAN UniProtKB-AC Q99766 http://www.uniprot.org/uniprot/Q99766 charge swissprot:ATP5S_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ATP5S_HUMAN eggNOG ENOG4110375 http://eggnogapi.embl.de/nog_data/html/tree/ENOG4110375 eggNOG KOG3864 http://eggnogapi.embl.de/nog_data/html/tree/KOG3864 epestfind swissprot:ATP5S_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ATP5S_HUMAN garnier swissprot:ATP5S_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ATP5S_HUMAN helixturnhelix swissprot:ATP5S_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ATP5S_HUMAN hmoment swissprot:ATP5S_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ATP5S_HUMAN iep swissprot:ATP5S_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ATP5S_HUMAN inforesidue swissprot:ATP5S_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ATP5S_HUMAN neXtProt NX_Q99766 http://www.nextprot.org/db/entry/NX_Q99766 octanol swissprot:ATP5S_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ATP5S_HUMAN pepcoil swissprot:ATP5S_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ATP5S_HUMAN pepdigest swissprot:ATP5S_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ATP5S_HUMAN pepinfo swissprot:ATP5S_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ATP5S_HUMAN pepnet swissprot:ATP5S_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ATP5S_HUMAN pepstats swissprot:ATP5S_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ATP5S_HUMAN pepwheel swissprot:ATP5S_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ATP5S_HUMAN pepwindow swissprot:ATP5S_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ATP5S_HUMAN sigcleave swissprot:ATP5S_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ATP5S_HUMAN ## Database ID URL or Descriptions # AltName MOT2_HUMAN Solute carrier family 16 member 7 # BioGrid 114629 2 # CDD cd06174 MFS # DrugBank DB00119 Pyruvic acid # DrugBank DB01032 Probenecid # DrugBank DB01440 Gamma Hydroxybutyric Acid # DrugBank DB04398 Lactic Acid # DrugBank DB04552 Niflumic Acid # Ensembl ENST00000261187 ENSP00000261187; ENSG00000118596 # Ensembl ENST00000547379 ENSP00000448071; ENSG00000118596 # Ensembl ENST00000552024 ENSP00000448742; ENSG00000118596 # Ensembl ENST00000552432 ENSP00000449547; ENSG00000118596 # ExpressionAtlas O60669 baseline and differential # FUNCTION MOT2_HUMAN Proton-coupled monocarboxylate transporter. Catalyzes the rapid transport across the plasma membrane of many monocarboxylates such as lactate, pyruvate, branched-chain oxo acids derived from leucine, valine and isoleucine, and the ketone bodies acetoacetate, beta-hydroxybutyrate and acetate. Functions as high-affinity pyruvate transporter. {ECO 0000269|PubMed 9786900}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IDA:UniProtKB. # GO_function GO:0005477 pyruvate secondary active transmembrane transporter activity; TAS:ProtInc. # GO_function GO:0008028 monocarboxylic acid transmembrane transporter activity; TAS:Reactome. # GO_function GO:0015129 lactate transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0015293 symporter activity; IEA:UniProtKB-KW. # GO_function GO:0050833 pyruvate transmembrane transporter activity; IDA:UniProtKB. # GO_process GO:0035873 lactate transmembrane transport; IMP:UniProtKB. # GO_process GO:0035879 plasma membrane lactate transport; IBA:GO_Central. # GO_process GO:1901475 pyruvate transmembrane transport; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0055085 transmembrane transport # Genevisible O60669 HS # HGNC HGNC:10928 SLC16A7 # IntAct O60669 2 # InterPro IPR004743 MCT # InterPro IPR011701 MFS # InterPro IPR020846 MFS_dom # InterPro IPR027178 MCT2 # KEGG_Brite ko02000 Transporters # KEGG_Brite ko02001 Solute carrier family # MIM 603654 gene # Organism MOT2_HUMAN Homo sapiens (Human) # PANTHER PTHR11360:SF25 PTHR11360:SF25 # PROSITE PS50850 MFS # Pfam PF07690 MFS_1 # Proteomes UP000005640 Chromosome 12 # Reactome R-HSA-433692 Proton-coupled monocarboxylate transport # RecName MOT2_HUMAN Monocarboxylate transporter 2 # RefSeq NP_001257551 NM_001270622.1 # RefSeq NP_001257552 NM_001270623.1 # RefSeq NP_004722 NM_004731.4 # RefSeq XP_005269288 XM_005269231.4 # SIMILARITY Belongs to the major facilitator superfamily. Monocarboxylate porter (TC 2.A.1.13) family. {ECO 0000305}. # SUBCELLULAR LOCATION MOT2_HUMAN Cell membrane {ECO 0000269|PubMed 15505343, ECO 0000269|PubMed 9786900}; Multi-pass membrane protein {ECO 0000269|PubMed 15505343, ECO 0000269|PubMed 9786900}. # SUBUNIT Interacts with GRID2IP. {ECO 0000250}. # SUPFAM SSF103473 SSF103473 # TCDB 2.A.1.13 the major facilitator superfamily (mfs) # TIGRFAMs TIGR00892 2A0113 # TISSUE SPECIFICITY Detected in heart and in blood lymphocytes and monocytes (at protein level). High expression in testis, moderate to low in spleen, heart, kidney, pancreas, skeletal muscle, brain and Leukocyte. Restricted expression in normal tissues, but widely expressed in cancer cells. {ECO:0000269|PubMed 15505343}. # UCSC uc001sqs human # eggNOG ENOG410IMVS Eukaryota # eggNOG ENOG4111F0K LUCA BLAST swissprot:MOT2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:MOT2_HUMAN BioCyc ZFISH:ENSG00000118596-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000118596-MONOMER COXPRESdb 9194 http://coxpresdb.jp/data/gene/9194.shtml CleanEx HS_SLC16A7 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC16A7 DOI 10.1038/nature04569 http://dx.doi.org/10.1038/nature04569 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.273.44.28959 http://dx.doi.org/10.1074/jbc.273.44.28959 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1369/jhc.4A6306.2004 http://dx.doi.org/10.1369/jhc.4A6306.2004 DrugBank DB00119 http://www.drugbank.ca/drugs/DB00119 DrugBank DB01032 http://www.drugbank.ca/drugs/DB01032 DrugBank DB01440 http://www.drugbank.ca/drugs/DB01440 DrugBank DB04398 http://www.drugbank.ca/drugs/DB04398 DrugBank DB04552 http://www.drugbank.ca/drugs/DB04552 EMBL AC079905 http://www.ebi.ac.uk/ena/data/view/AC079905 EMBL AF049608 http://www.ebi.ac.uk/ena/data/view/AF049608 EMBL AF058056 http://www.ebi.ac.uk/ena/data/view/AF058056 EMBL AK313345 http://www.ebi.ac.uk/ena/data/view/AK313345 EMBL BC030693 http://www.ebi.ac.uk/ena/data/view/BC030693 EMBL CH471054 http://www.ebi.ac.uk/ena/data/view/CH471054 Ensembl ENST00000261187 http://www.ensembl.org/id/ENST00000261187 Ensembl ENST00000547379 http://www.ensembl.org/id/ENST00000547379 Ensembl ENST00000552024 http://www.ensembl.org/id/ENST00000552024 Ensembl ENST00000552432 http://www.ensembl.org/id/ENST00000552432 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0005477 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005477 GO_function GO:0008028 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008028 GO_function GO:0015129 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015129 GO_function GO:0015293 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015293 GO_function GO:0050833 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050833 GO_process GO:0035873 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035873 GO_process GO:0035879 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035879 GO_process GO:1901475 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1901475 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC16A7 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC16A7 GeneID 9194 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=9194 GeneTree ENSGT00760000118926 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118926 H-InvDB HIX0010769 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0010769 HGNC HGNC:10928 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10928 HOGENOM HOG000280688 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000280688&db=HOGENOM6 HOVERGEN HBG006384 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG006384&db=HOVERGEN HPA HPA005911 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA005911 InParanoid O60669 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O60669 IntAct O60669 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O60669* InterPro IPR004743 http://www.ebi.ac.uk/interpro/entry/IPR004743 InterPro IPR011701 http://www.ebi.ac.uk/interpro/entry/IPR011701 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 InterPro IPR027178 http://www.ebi.ac.uk/interpro/entry/IPR027178 Jabion 9194 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=9194 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:9194 http://www.genome.jp/dbget-bin/www_bget?hsa:9194 KEGG_Orthology KO:K08184 http://www.genome.jp/dbget-bin/www_bget?KO:K08184 MIM 603654 http://www.ncbi.nlm.nih.gov/omim/603654 OMA QYKYMYL http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=QYKYMYL OrthoDB EOG091G05SW http://cegg.unige.ch/orthodb/results?searchtext=EOG091G05SW PANTHER PTHR11360:SF25 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11360:SF25 PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PSORT swissprot:MOT2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:MOT2_HUMAN PSORT-B swissprot:MOT2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:MOT2_HUMAN PSORT2 swissprot:MOT2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:MOT2_HUMAN Pfam PF07690 http://pfam.xfam.org/family/PF07690 PharmGKB PA35819 http://www.pharmgkb.org/do/serve?objId=PA35819&objCls=Gene Phobius swissprot:MOT2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:MOT2_HUMAN PhylomeDB O60669 http://phylomedb.org/?seqid=O60669 ProteinModelPortal O60669 http://www.proteinmodelportal.org/query/uniprot/O60669 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15505343 http://www.ncbi.nlm.nih.gov/pubmed/15505343 PubMed 16541075 http://www.ncbi.nlm.nih.gov/pubmed/16541075 PubMed 9786900 http://www.ncbi.nlm.nih.gov/pubmed/9786900 Reactome R-HSA-433692 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-433692 RefSeq NP_001257551 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001257551 RefSeq NP_001257552 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001257552 RefSeq NP_004722 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004722 RefSeq XP_005269288 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005269288 STRING 9606.ENSP00000261187 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000261187&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.1.13 http://www.tcdb.org/search/result.php?tc=2.A.1.13 TIGRFAMs TIGR00892 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00892 UCSC uc001sqs http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001sqs&org=rat UniGene Hs.439643 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.439643 UniGene Hs.88156 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.88156 UniProtKB MOT2_HUMAN http://www.uniprot.org/uniprot/MOT2_HUMAN UniProtKB-AC O60669 http://www.uniprot.org/uniprot/O60669 charge swissprot:MOT2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:MOT2_HUMAN eggNOG ENOG410IMVS http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IMVS eggNOG ENOG4111F0K http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111F0K epestfind swissprot:MOT2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:MOT2_HUMAN garnier swissprot:MOT2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:MOT2_HUMAN helixturnhelix swissprot:MOT2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:MOT2_HUMAN hmoment swissprot:MOT2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:MOT2_HUMAN iep swissprot:MOT2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:MOT2_HUMAN inforesidue swissprot:MOT2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:MOT2_HUMAN neXtProt NX_O60669 http://www.nextprot.org/db/entry/NX_O60669 octanol swissprot:MOT2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:MOT2_HUMAN pepcoil swissprot:MOT2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:MOT2_HUMAN pepdigest swissprot:MOT2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:MOT2_HUMAN pepinfo swissprot:MOT2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:MOT2_HUMAN pepnet swissprot:MOT2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:MOT2_HUMAN pepstats swissprot:MOT2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:MOT2_HUMAN pepwheel swissprot:MOT2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:MOT2_HUMAN pepwindow swissprot:MOT2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:MOT2_HUMAN sigcleave swissprot:MOT2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:MOT2_HUMAN ## Database ID URL or Descriptions # AltName KCNE3_HUMAN MinK-related peptide 2 # AltName KCNE3_HUMAN Minimum potassium ion channel-related peptide 2 # AltName KCNE3_HUMAN Potassium channel subunit beta MiRP2 # BioGrid 115326 10 # CAUTION KCNE3_HUMAN Variant His-83 has been associated with periodic paralysis (PubMed 11207363 and PubMed 12414843). The association could not be confirmed by further studies leading to the conclusion that His-83 does not play a causative role in the disease (PubMed 14504341 and PubMed 15037716). {ECO 0000305}. # ChiTaRS KCNE3 human # Ensembl ENST00000310128 ENSP00000310557; ENSG00000175538 # Ensembl ENST00000525550 ENSP00000433633; ENSG00000175538 # ExpressionAtlas Q9Y6H6 baseline and differential # FUNCTION KCNE3_HUMAN Ancillary protein that assembles as a beta subunit with a voltage-gated potassium channel complex of pore-forming alpha subunits. Modulates the gating kinetics and enhances stability of the channel complex. Assembled with KCNB1 modulates the gating characteristics of the delayed rectifier voltage-dependent potassium channel KCNB1 (PubMed 12954870). Associated with KCNC4/Kv3.4 is proposed to form the subthreshold voltage-gated potassium channel in skeletal muscle and to establish the resting membrane potential (RMP) in muscle cells. Associated with KCNQ1/KCLQT1 may form the intestinal cAMP-stimulated potassium channel involved in chloride secretion that produces a current with nearly instantaneous activation with a linear current-voltage relationship. {ECO 0000250|UniProtKB Q9JJV7, ECO 0000269|PubMed 10646604, ECO 0000269|PubMed 12954870}. # GO_component GO:0005737 cytoplasm; IDA:UniProtKB. # GO_component GO:0008076 voltage-gated potassium channel complex; IEA:Ensembl. # GO_component GO:0030425 dendrite; IDA:UniProtKB. # GO_component GO:0031982 vesicle; IDA:UniProtKB. # GO_component GO:0032809 neuronal cell body membrane; IDA:UniProtKB. # GO_component GO:0043204 perikaryon; IDA:UniProtKB. # GO_component GO:0045121 membrane raft; IDA:UniProtKB. # GO_function GO:0005249 voltage-gated potassium channel activity; IEA:InterPro. # GO_function GO:0015459 potassium channel regulator activity; IDA:UniProtKB. # GO_process GO:0060306 regulation of membrane repolarization; IBA:GO_Central. # GO_process GO:1901387 positive regulation of voltage-gated calcium channel activity; IEA:Ensembl. # GO_process GO:1902260 negative regulation of delayed rectifier potassium channel activity; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0008150 biological_process # Genevisible Q9Y6H6 HS # HGNC HGNC:6243 KCNE3 # IntAct Q9Y6H6 10 # InterPro IPR000369 K_chnl_KCNE # InterPro IPR005426 K_chnl_volt-dep_bsu_KCNE3 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00215:[Inherited metabolic disease; Nervous system disease; Muscular disease] Andersen-Tawil syndrome (ATS) [DS H00748] # KEGG_Disease H00728 [Cardiovascular disease] Brugada syndrome (BRS) # KEGG_Pathway ko04974 Protein digestion and absorption # MIM 604433 gene # MIM 613119 phenotype # Organism KCNE3_HUMAN Homo sapiens (Human) # Orphanet 130 Brugada syndrome # Orphanet 681 Hypokalemic periodic paralysis # PANTHER PTHR15282:SF6 PTHR15282:SF6 # PDB 2NDJ NMR; -; A=1-103 # PRINTS PR00168 KCNECHANNEL # PRINTS PR01606 KCNE3CHANNEL # Pfam PF02060 ISK_Channel # Proteomes UP000005640 Chromosome 11 # Reactome R-HSA-5576890 Phase 3 - rapid repolarisation # Reactome R-HSA-5576893 Phase 2 - plateau phase # RecName KCNE3_HUMAN Potassium voltage-gated channel subfamily E member 3 # RefSeq NP_005463 NM_005472.4 # RefSeq XP_016872536 XM_017017047.1 # RefSeq XP_016872537 XM_017017048.1 # RefSeq XP_016872538 XM_017017049.1 # RefSeq XP_016872539 XM_017017050.1 # RefSeq XP_016872540 XM_017017051.1 # RefSeq XP_016872541 XM_017017052.1 # SIMILARITY Belongs to the potassium channel KCNE family. {ECO 0000305}. # SUBCELLULAR LOCATION KCNE3_HUMAN Cell membrane {ECO 0000269|PubMed 12954870}; Single-pass type I membrane protein {ECO 0000305}. Cytoplasm {ECO 0000269|PubMed 12954870}. Perikaryon {ECO 0000269|PubMed 12954870}. Cell projection, dendrite {ECO 0000269|PubMed 12954870}. Membrane raft {ECO 0000269|PubMed 20533308}. Note=Colocalizes with KCNB1 at high-density somatodendritic clusters on the surface of hippocampal neurons. {ECO 0000269|PubMed 12954870}. # SUBUNIT KCNE3_HUMAN Interacts with KCNB1. Interacts with KCNC2 (By similarity). Associates with KCNC4/Kv3.4 (PubMed 11207363). Interacts with KCNQ1; produces a current with nearly instantaneous activation with a linear current-voltage relationship and alters membrane raft localization (By similarity) (PubMed 20533308). {ECO 0000250|UniProtKB Q9JJV7, ECO 0000269|PubMed 11207363, ECO 0000269|PubMed 20533308}. # TISSUE SPECIFICITY KCNE3_HUMAN Expressed in hippocampal neurons (at protein level) (PubMed 12954870). Widely expressed with highest levels in kidney and moderate levels in small intestine. {ECO 0000269|PubMed 10646604, ECO 0000269|PubMed 12954870}. # UCSC uc001ovc human # eggNOG ENOG410IZ1X Eukaryota # eggNOG ENOG410XU3Y LUCA BLAST swissprot:KCNE3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCNE3_HUMAN BioCyc ZFISH:ENSG00000175538-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000175538-MONOMER COXPRESdb 10008 http://coxpresdb.jp/data/gene/10008.shtml CleanEx HS_KCNE3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNE3 DOI 10.1002/humu.20834 http://dx.doi.org/10.1002/humu.20834 DOI 10.1002/jcp.22265 http://dx.doi.org/10.1002/jcp.22265 DOI 10.1016/S0092-8674(01)00207-0 http://dx.doi.org/10.1016/S0092-8674(01)00207-0 DOI 10.1038/35003200 http://dx.doi.org/10.1038/35003200 DOI 10.1074/jbc.M010713200 http://dx.doi.org/10.1074/jbc.M010713200 DOI 10.1096/fj.01-0520hyp http://dx.doi.org/10.1096/fj.01-0520hyp DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1161/CIRCEP.107.748103 http://dx.doi.org/10.1161/CIRCEP.107.748103 DOI 10.1210/jc.2002-020698 http://dx.doi.org/10.1210/jc.2002-020698 DOI 10.1212/01.WNL.0000082392.66713.E3 http://dx.doi.org/10.1212/01.WNL.0000082392.66713.E3 DOI 10.1212/01.WNL.0000119392.29624.88 http://dx.doi.org/10.1212/01.WNL.0000119392.29624.88 EMBL AF076531 http://www.ebi.ac.uk/ena/data/view/AF076531 EMBL AF302494 http://www.ebi.ac.uk/ena/data/view/AF302494 EMBL BC032235 http://www.ebi.ac.uk/ena/data/view/BC032235 Ensembl ENST00000310128 http://www.ensembl.org/id/ENST00000310128 Ensembl ENST00000525550 http://www.ensembl.org/id/ENST00000525550 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0008076 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008076 GO_component GO:0030425 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030425 GO_component GO:0031982 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031982 GO_component GO:0032809 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032809 GO_component GO:0043204 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043204 GO_component GO:0045121 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045121 GO_function GO:0005249 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005249 GO_function GO:0015459 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015459 GO_process GO:0060306 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060306 GO_process GO:1901387 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1901387 GO_process GO:1902260 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902260 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GeneCards KCNE3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNE3 GeneID 10008 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=10008 GeneTree ENSGT00390000008537 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000008537 HGNC HGNC:6243 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6243 HOGENOM HOG000113209 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000113209&db=HOGENOM6 HOVERGEN HBG052228 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052228&db=HOVERGEN HPA HPA014849 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA014849 InParanoid Q9Y6H6 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9Y6H6 IntAct Q9Y6H6 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9Y6H6* InterPro IPR000369 http://www.ebi.ac.uk/interpro/entry/IPR000369 InterPro IPR005426 http://www.ebi.ac.uk/interpro/entry/IPR005426 Jabion 10008 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=10008 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00215 http://www.genome.jp/dbget-bin/www_bget?H00215 KEGG_Disease H00728 http://www.genome.jp/dbget-bin/www_bget?H00728 KEGG_Gene hsa:10008 http://www.genome.jp/dbget-bin/www_bget?hsa:10008 KEGG_Orthology KO:K04897 http://www.genome.jp/dbget-bin/www_bget?KO:K04897 KEGG_Pathway ko04974 http://www.genome.jp/kegg-bin/show_pathway?ko04974 MIM 604433 http://www.ncbi.nlm.nih.gov/omim/604433 MIM 613119 http://www.ncbi.nlm.nih.gov/omim/613119 MINT MINT-8247512 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-8247512 OMA GPGPDNQ http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=GPGPDNQ Orphanet 130 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=130 Orphanet 681 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=681 OrthoDB EOG091G0Z41 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0Z41 PANTHER PTHR15282:SF6 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR15282:SF6 PDB 2NDJ http://www.ebi.ac.uk/pdbe-srv/view/entry/2NDJ PDBsum 2NDJ http://www.ebi.ac.uk/pdbsum/2NDJ PRINTS PR00168 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00168 PRINTS PR01606 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01606 PSORT swissprot:KCNE3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCNE3_HUMAN PSORT-B swissprot:KCNE3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCNE3_HUMAN PSORT2 swissprot:KCNE3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCNE3_HUMAN Pfam PF02060 http://pfam.xfam.org/family/PF02060 PharmGKB PA393 http://www.pharmgkb.org/do/serve?objId=PA393&objCls=Gene Phobius swissprot:KCNE3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCNE3_HUMAN PhylomeDB Q9Y6H6 http://phylomedb.org/?seqid=Q9Y6H6 ProteinModelPortal Q9Y6H6 http://www.proteinmodelportal.org/query/uniprot/Q9Y6H6 PubMed 10646604 http://www.ncbi.nlm.nih.gov/pubmed/10646604 PubMed 11104781 http://www.ncbi.nlm.nih.gov/pubmed/11104781 PubMed 11207363 http://www.ncbi.nlm.nih.gov/pubmed/11207363 PubMed 11874988 http://www.ncbi.nlm.nih.gov/pubmed/11874988 PubMed 12414843 http://www.ncbi.nlm.nih.gov/pubmed/12414843 PubMed 12954870 http://www.ncbi.nlm.nih.gov/pubmed/12954870 PubMed 14504341 http://www.ncbi.nlm.nih.gov/pubmed/14504341 PubMed 15037716 http://www.ncbi.nlm.nih.gov/pubmed/15037716 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 19122847 http://www.ncbi.nlm.nih.gov/pubmed/19122847 PubMed 19306396 http://www.ncbi.nlm.nih.gov/pubmed/19306396 PubMed 20533308 http://www.ncbi.nlm.nih.gov/pubmed/20533308 Reactome R-HSA-5576890 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576890 Reactome R-HSA-5576893 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576893 RefSeq NP_005463 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_005463 RefSeq XP_016872536 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016872536 RefSeq XP_016872537 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016872537 RefSeq XP_016872538 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016872538 RefSeq XP_016872539 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016872539 RefSeq XP_016872540 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016872540 RefSeq XP_016872541 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016872541 SMR Q9Y6H6 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9Y6H6 STRING 9606.ENSP00000310557 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000310557&targetmode=cogs UCSC uc001ovc http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001ovc&org=rat UniGene Hs.523899 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.523899 UniProtKB KCNE3_HUMAN http://www.uniprot.org/uniprot/KCNE3_HUMAN UniProtKB-AC Q9Y6H6 http://www.uniprot.org/uniprot/Q9Y6H6 charge swissprot:KCNE3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCNE3_HUMAN eggNOG ENOG410IZ1X http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IZ1X eggNOG ENOG410XU3Y http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XU3Y epestfind swissprot:KCNE3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCNE3_HUMAN garnier swissprot:KCNE3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCNE3_HUMAN helixturnhelix swissprot:KCNE3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCNE3_HUMAN hmoment swissprot:KCNE3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCNE3_HUMAN iep swissprot:KCNE3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCNE3_HUMAN inforesidue swissprot:KCNE3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCNE3_HUMAN neXtProt NX_Q9Y6H6 http://www.nextprot.org/db/entry/NX_Q9Y6H6 octanol swissprot:KCNE3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCNE3_HUMAN pepcoil swissprot:KCNE3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCNE3_HUMAN pepdigest swissprot:KCNE3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCNE3_HUMAN pepinfo swissprot:KCNE3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCNE3_HUMAN pepnet swissprot:KCNE3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCNE3_HUMAN pepstats swissprot:KCNE3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCNE3_HUMAN pepwheel swissprot:KCNE3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCNE3_HUMAN pepwindow swissprot:KCNE3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCNE3_HUMAN sigcleave swissprot:KCNE3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCNE3_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS AT1B4_HUMAN Event=Alternative splicing; Named isoforms=2; Name=A; IsoId=Q9UN42-1; Sequence=Displayed; Name=B; IsoId=Q9UN42-2; Sequence=VSP_000351; # AltName AT1B4_HUMAN X,K-ATPase subunit beta-m # AltName AT1B4_HUMAN X/potassium-transporting ATPase subunit beta-m # BioGrid 117007 38 # CCDS CCDS14598 -. [Q9UN42-2] # CCDS CCDS48158 -. [Q9UN42-1] # Ensembl ENST00000218008 ENSP00000218008; ENSG00000101892. [Q9UN42-1] # Ensembl ENST00000361319 ENSP00000355346; ENSG00000101892. [Q9UN42-2] # ExpressionAtlas Q9UN42 baseline and differential # FUNCTION AT1B4_HUMAN May act as a transcriptional coregulator during muscle development through its interaction with SNW1. Has lost its ancestral function as a Na,K-ATPase beta-subunit. {ECO 0000269|PubMed 17592128}. # GO_component AT1B4_HUMAN GO 0005890 sodium potassium-exchanging ATPase complex; IEA InterPro. # GO_component GO:0005635 nuclear envelope; TAS:Reactome. # GO_component GO:0005637 nuclear inner membrane; IDA:UniProtKB. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_function GO:0015077 monovalent inorganic cation transmembrane transporter activity; TAS:ProtInc. # GO_process GO:0006351 transcription, DNA-templated; IEA:UniProtKB-KW. # GO_process GO:0006355 regulation of transcription, DNA-templated; IDA:UniProtKB. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0045944 positive regulation of transcription from RNA polymerase II promoter; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005635 nuclear envelope # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # Genevisible Q9UN42 HS # HGNC HGNC:808 ATP1B4 # InterPro IPR000402 Na/K_ATPase_sub_beta # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04090 Cellular antigens # KEGG_Pathway ko04260 Cardiac muscle contraction # KEGG_Pathway ko04960 Aldosterone-regulated sodium reabsorption # KEGG_Pathway ko04961 Endocrine and other factor-regulated calcium reabsorption # KEGG_Pathway ko04964 Proximal tubule bicarbonate reclamation # KEGG_Pathway ko04970 Salivary secretion # KEGG_Pathway ko04971 Gastric acid secretion # KEGG_Pathway ko04972 Pancreatic secretion # KEGG_Pathway ko04973 Carbohydrate digestion and absorption # KEGG_Pathway ko04974 Protein digestion and absorption # KEGG_Pathway ko04976 Bile secretion # KEGG_Pathway ko04978 Mineral absorption # Organism AT1B4_HUMAN Homo sapiens (Human) # PANTHER PTHR11523 PTHR11523 # PROSITE PS00390 ATPASE_NA_K_BETA_1 # PROSITE PS00391 ATPASE_NA_K_BETA_2 # Pfam PF00287 Na_K-ATPase # Proteomes UP000005640 Chromosome X # Reactome R-HSA-2173796:SMAD2/SMAD3 SMAD4 heterotrimer regulates transcription # RecName AT1B4_HUMAN Protein ATP1B4 # RefSeq NP_001135919 NM_001142447.2. [Q9UN42-1] # RefSeq NP_036201 NM_012069.4. [Q9UN42-2] # SIMILARITY Belongs to the X(+)/potassium ATPases subunit beta family. {ECO 0000305}. # SUBCELLULAR LOCATION AT1B4_HUMAN Nucleus inner membrane {ECO 0000250}; Single-pass type II membrane protein {ECO 0000250}. Note=Detected in nuclear envelops. {ECO 0000269|PubMed 14656723, ECO 0000269|PubMed 17592128}. # SUBUNIT Associates with a SMAD7-transcriptional complex. Interacts with SNW1 and TOR1AIP1 (By similarity). According to PubMed:17592128, does not associate with known Na,K-ATPase alpha- subunits. {ECO 0000250}. # TIGRFAMs TIGR01107 Na_K_ATPase_bet # TISSUE SPECIFICITY Highly expressed in skeletal muscle and at a lower level in heart. {ECO:0000269|PubMed 10456317}. # UCSC uc004esq human. [Q9UN42-1] # eggNOG ENOG411150A LUCA # eggNOG KOG3927 Eukaryota BLAST swissprot:AT1B4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:AT1B4_HUMAN BioCyc ZFISH:ENSG00000101892-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000101892-MONOMER COXPRESdb 23439 http://coxpresdb.jp/data/gene/23439.shtml CleanEx HS_ATP1B4 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ATP1B4 DIP DIP-60961N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-60961N DOI 10.1016/S0014-5793(99)00954-0 http://dx.doi.org/10.1016/S0014-5793(99)00954-0 DOI 10.1073/pnas.0704809104 http://dx.doi.org/10.1073/pnas.0704809104 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1152/ajpcell.00358.2003 http://dx.doi.org/10.1152/ajpcell.00358.2003 EMBL AF158383 http://www.ebi.ac.uk/ena/data/view/AF158383 EMBL AF158384 http://www.ebi.ac.uk/ena/data/view/AF158384 EMBL BC117227 http://www.ebi.ac.uk/ena/data/view/BC117227 Ensembl ENST00000218008 http://www.ensembl.org/id/ENST00000218008 Ensembl ENST00000361319 http://www.ensembl.org/id/ENST00000361319 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005635 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005635 GO_component GO:0005637 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005637 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0005890 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005890 GO_function GO:0015077 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015077 GO_process GO:0006351 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006351 GO_process GO:0006355 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006355 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0045944 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045944 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005635 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005635 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GeneCards ATP1B4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ATP1B4 GeneID 23439 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=23439 GeneTree ENSGT00550000074530 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074530 HGNC HGNC:808 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:808 HOGENOM HOG000039248 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000039248&db=HOGENOM6 HOVERGEN HBG050603 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050603&db=HOVERGEN InParanoid Q9UN42 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9UN42 InterPro IPR000402 http://www.ebi.ac.uk/interpro/entry/IPR000402 Jabion 23439 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=23439 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04090 http://www.genome.jp/dbget-bin/www_bget?ko04090 KEGG_Gene hsa:23439 http://www.genome.jp/dbget-bin/www_bget?hsa:23439 KEGG_Orthology KO:K01540 http://www.genome.jp/dbget-bin/www_bget?KO:K01540 KEGG_Pathway ko04260 http://www.genome.jp/kegg-bin/show_pathway?ko04260 KEGG_Pathway ko04960 http://www.genome.jp/kegg-bin/show_pathway?ko04960 KEGG_Pathway ko04961 http://www.genome.jp/kegg-bin/show_pathway?ko04961 KEGG_Pathway ko04964 http://www.genome.jp/kegg-bin/show_pathway?ko04964 KEGG_Pathway ko04970 http://www.genome.jp/kegg-bin/show_pathway?ko04970 KEGG_Pathway ko04971 http://www.genome.jp/kegg-bin/show_pathway?ko04971 KEGG_Pathway ko04972 http://www.genome.jp/kegg-bin/show_pathway?ko04972 KEGG_Pathway ko04973 http://www.genome.jp/kegg-bin/show_pathway?ko04973 KEGG_Pathway ko04974 http://www.genome.jp/kegg-bin/show_pathway?ko04974 KEGG_Pathway ko04976 http://www.genome.jp/kegg-bin/show_pathway?ko04976 KEGG_Pathway ko04978 http://www.genome.jp/kegg-bin/show_pathway?ko04978 OMA PTGNAWW http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=PTGNAWW OrthoDB EOG091G0DJ4 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0DJ4 PANTHER PTHR11523 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11523 PROSITE PS00390 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00390 PROSITE PS00391 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00391 PSORT swissprot:AT1B4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:AT1B4_HUMAN PSORT-B swissprot:AT1B4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:AT1B4_HUMAN PSORT2 swissprot:AT1B4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:AT1B4_HUMAN Pfam PF00287 http://pfam.xfam.org/family/PF00287 PharmGKB PA410 http://www.pharmgkb.org/do/serve?objId=PA410&objCls=Gene Phobius swissprot:AT1B4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:AT1B4_HUMAN PhylomeDB Q9UN42 http://phylomedb.org/?seqid=Q9UN42 ProteinModelPortal Q9UN42 http://www.proteinmodelportal.org/query/uniprot/Q9UN42 PubMed 10456317 http://www.ncbi.nlm.nih.gov/pubmed/10456317 PubMed 14656723 http://www.ncbi.nlm.nih.gov/pubmed/14656723 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 17592128 http://www.ncbi.nlm.nih.gov/pubmed/17592128 Reactome R-HSA-2173796 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2173796 RefSeq NP_001135919 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001135919 RefSeq NP_036201 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_036201 STRING 9606.ENSP00000218008 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000218008&targetmode=cogs TIGRFAMs TIGR01107 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01107 UCSC uc004esq http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc004esq&org=rat UniGene Hs.292599 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.292599 UniProtKB AT1B4_HUMAN http://www.uniprot.org/uniprot/AT1B4_HUMAN UniProtKB-AC Q9UN42 http://www.uniprot.org/uniprot/Q9UN42 charge swissprot:AT1B4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:AT1B4_HUMAN eggNOG ENOG411150A http://eggnogapi.embl.de/nog_data/html/tree/ENOG411150A eggNOG KOG3927 http://eggnogapi.embl.de/nog_data/html/tree/KOG3927 epestfind swissprot:AT1B4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:AT1B4_HUMAN garnier swissprot:AT1B4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:AT1B4_HUMAN helixturnhelix swissprot:AT1B4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:AT1B4_HUMAN hmoment swissprot:AT1B4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:AT1B4_HUMAN iep swissprot:AT1B4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:AT1B4_HUMAN inforesidue swissprot:AT1B4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:AT1B4_HUMAN neXtProt NX_Q9UN42 http://www.nextprot.org/db/entry/NX_Q9UN42 octanol swissprot:AT1B4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:AT1B4_HUMAN pepcoil swissprot:AT1B4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:AT1B4_HUMAN pepdigest swissprot:AT1B4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:AT1B4_HUMAN pepinfo swissprot:AT1B4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:AT1B4_HUMAN pepnet swissprot:AT1B4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:AT1B4_HUMAN pepstats swissprot:AT1B4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:AT1B4_HUMAN pepwheel swissprot:AT1B4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:AT1B4_HUMAN pepwindow swissprot:AT1B4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:AT1B4_HUMAN sigcleave swissprot:AT1B4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:AT1B4_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS GLRA2_HUMAN Event=Alternative splicing; Named isoforms=3; Name=Alpha-2*; IsoId=P23416-1; Sequence=Displayed; Name=Alpha-2B; IsoId=P23416-2; Sequence=VSP_000082; Name=3; IsoId=P23416-3; Sequence=VSP_045465; Note=No experimental confirmation available.; # BIOPHYSICOCHEMICAL PROPERTIES Kinetic parameters Note=For isoform Alpha-2* homopentamers, a concentration of about 66 uM glycine results in half-maximal channel conductance. For isoform Alpha-2B homopentamers, a concentration of about 34 uM glycine results in half-maximal channel conductance.; # BioGrid 109004 27 # CCDS CCDS14160 -. [P23416-1] # CCDS CCDS48085 -. [P23416-2] # CCDS CCDS55371 -. [P23416-3] # ChiTaRS GLRA2 human # DrugBank DB00145 Glycine # DrugBank DB00431 Lindane # DrugBank DB00898 Ethanol # ENZYME REGULATION GLRA2_HUMAN Inhibited by strychnine (PubMed 2155780, PubMed 15302677). Inhibited by picrotoxin (PubMed 15302677). Channel activity is potentiated by 10-100 uM Zn(2+) (PubMed 15302677, PubMed 16144831, PubMed 23895467). Channel activity is marginally increased by 50 mM ethanol; it is strongly increased by a combination of 0.5 uM Zn(2+) and 50 mM ethanol (PubMed 23895467). Channel activity is inhibited by 100-1000 uM Zn(2+) (PubMed 15302677). {ECO 0000269|PubMed 15302677, ECO 0000269|PubMed 16144831, ECO 0000269|PubMed 2155780, ECO 0000269|PubMed 23895467}. # Ensembl ENST00000218075 ENSP00000218075; ENSG00000101958. [P23416-1] # Ensembl ENST00000355020 ENSP00000347123; ENSG00000101958. [P23416-2] # Ensembl ENST00000443437 ENSP00000387756; ENSG00000101958. [P23416-3] # ExpressionAtlas P23416 baseline and differential # FUNCTION GLRA2_HUMAN Glycine receptors are ligand-gated chloride channels. Channel opening is triggered by extracellular glycine (PubMed 2155780, PubMed 15302677, PubMed 16144831, PubMed 23895467, PubMed 25445488). Channel opening is also triggered by taurine and beta-alanine (PubMed 15302677). Plays a role in the down-regulation of neuronal excitability. Contributes to the generation of inhibitory postsynaptic currents (PubMed 25445488). Plays a role in cellular responses to ethanol (PubMed 23895467). {ECO 0000269|PubMed 15302677, ECO 0000269|PubMed 16144831, ECO 0000269|PubMed 2155780, ECO 0000269|PubMed 23895467, ECO 0000269|PubMed 25445488}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IDA:UniProtKB. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0034707 chloride channel complex; IEA:UniProtKB-KW. # GO_component GO:0042995 cell projection; IEA:UniProtKB-SubCell. # GO_component GO:0045211 postsynaptic membrane; IEA:UniProtKB-SubCell. # GO_function GO:0016594 glycine binding; IDA:UniProtKB. # GO_function GO:0016934 extracellular-glycine-gated chloride channel activity; IDA:UniProtKB. # GO_function GO:0022852 glycine-gated chloride ion channel activity; IDA:UniProtKB. # GO_function GO:0046872 metal ion binding; IEA:UniProtKB-KW. # GO_process GO:0007218 neuropeptide signaling pathway; IDA:UniProtKB. # GO_process GO:0034220 ion transmembrane transport; IDA:UniProtKB. # GO_process GO:0060012 synaptic transmission, glycinergic; IBA:GO_Central. # GO_process GO:0071230 cellular response to amino acid stimulus; IDA:UniProtKB. # GO_process GO:0071294 cellular response to zinc ion; IDA:UniProtKB. # GO_process GO:0071361 cellular response to ethanol; IDA:UniProtKB. # GO_process GO:1902476 chloride transmembrane transport; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # GOslim_process GO:0055085 transmembrane transport # Gene3D 2.70.170.10 -; 1. # Genevisible P23416 HS # HGNC HGNC:4327 GLRA2 # IntAct P23416 6 # InterPro IPR006028 GABAA/Glycine_rcpt # InterPro IPR006029 Neurotrans-gated_channel_TM # InterPro IPR006201 Neur_channel # InterPro IPR006202 Neur_chan_lig-bd # InterPro IPR008127 Glycine_rcpt_A # InterPro IPR008129 Glycine_rcpt_A2 # InterPro IPR018000 Neurotransmitter_ion_chnl_CS # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04080 Neuroactive ligand-receptor interaction # MIM 305990 gene # MISCELLANEOUS The alpha subunit binds strychnine. {ECO:0000269|PubMed 2155780}. # Organism GLRA2_HUMAN Homo sapiens (Human) # PANTHER PTHR18945 PTHR18945 # PIR S12381 S12381 # PRINTS PR00252 NRIONCHANNEL # PRINTS PR00253 GABAARECEPTR # PRINTS PR01673 GLYRALPHA # PRINTS PR01675 GLYRALPHA2 # PROSITE PS00236 NEUROTR_ION_CHANNEL # Pfam PF02931 Neur_chan_LBD # Pfam PF02932 Neur_chan_memb # Proteomes UP000005640 Chromosome X # Reactome R-HSA-975298 Ligand-gated ion channel transport # RecName GLRA2_HUMAN Glycine receptor subunit alpha-2 # RefSeq NP_001112357 NM_001118885.1. [P23416-1] # RefSeq NP_001112358 NM_001118886.1. [P23416-2] # RefSeq NP_001165413 NM_001171942.1. [P23416-3] # RefSeq NP_002054 NM_002063.3. [P23416-1] # RefSeq XP_016884916 XM_017029427.1. [P23416-2] # RefSeq XP_016884917 XM_017029428.1. [P23416-3] # RefSeq XP_016884918 XM_017029429.1. [P23416-3] # SIMILARITY Belongs to the ligand-gated ion channel (TC 1.A.9) family. Glycine receptor (TC 1.A.9.3) subfamily. GLRA2 sub- subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION GLRA2_HUMAN Cell junction, synapse, postsynaptic cell membrane {ECO 0000250|UniProtKB Q7TNC8}; Multi-pass membrane protein {ECO 0000250|UniProtKB P23415}. Cell junction, synapse {ECO 0000250|UniProtKB Q7TNC8}. Cell membrane {ECO 0000269|PubMed 15302677, ECO 0000269|PubMed 16144831, ECO 0000269|PubMed 2155780, ECO 0000269|PubMed 23895467, ECO 0000269|PubMed 25445488}; Multi-pass membrane protein {ECO 0000250|UniProtKB P23415}. Cell projection {ECO 0000250|UniProtKB Q7TNC8}. # SUBUNIT GLRA2_HUMAN Homopentamer (in vitro). Interacts with GLRB (PubMed 16144831). Heteropentamer composed of GLRA2 and GLRB. Both homopentamers and heteropentamers form functional ion channels, but their characteristics are subtly different (PubMed 15302677). {ECO 0000269|PubMed 16144831, ECO 0000305|PubMed 15302677}. # SUPFAM SSF63712 SSF63712 # SUPFAM SSF90112 SSF90112 # TCDB 1.A.9.3 the neurotransmitter receptor, cys loop, ligand-gated ion channel (lic) family # TIGRFAMs TIGR00860 LIC # UCSC uc004cwe human. [P23416-1] # eggNOG ENOG410XPWH LUCA # eggNOG KOG3643 Eukaryota BLAST swissprot:GLRA2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:GLRA2_HUMAN BioCyc ZFISH:ENSG00000101958-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000101958-MONOMER COXPRESdb 2742 http://coxpresdb.jp/data/gene/2742.shtml CleanEx HS_GLRA2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_GLRA2 DOI 10.1002/(SICI)1096-8628(19980630)78:2<176::AID-AJMG16>3.0.CO http://dx.doi.org/10.1002/(SICI)1096-8628(19980630)78:2<176::AID-AJMG16>3.0.CO DOI 10.1016/j.neuropharm.2014.10.026 http://dx.doi.org/10.1016/j.neuropharm.2014.10.026 DOI 10.1038/nature03440 http://dx.doi.org/10.1038/nature03440 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1038/sj.bjp.0705875 http://dx.doi.org/10.1038/sj.bjp.0705875 DOI 10.1074/jbc.M508303200 http://dx.doi.org/10.1074/jbc.M508303200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1101/gr.6.12.1200 http://dx.doi.org/10.1101/gr.6.12.1200 DOI 10.1111/acer.12192 http://dx.doi.org/10.1111/acer.12192 DrugBank DB00145 http://www.drugbank.ca/drugs/DB00145 DrugBank DB00431 http://www.drugbank.ca/drugs/DB00431 DrugBank DB00898 http://www.drugbank.ca/drugs/DB00898 EMBL AC003658 http://www.ebi.ac.uk/ena/data/view/AC003658 EMBL AC003683 http://www.ebi.ac.uk/ena/data/view/AC003683 EMBL AF053487 http://www.ebi.ac.uk/ena/data/view/AF053487 EMBL AF053488 http://www.ebi.ac.uk/ena/data/view/AF053488 EMBL AF053489 http://www.ebi.ac.uk/ena/data/view/AF053489 EMBL AF053490 http://www.ebi.ac.uk/ena/data/view/AF053490 EMBL AF053491 http://www.ebi.ac.uk/ena/data/view/AF053491 EMBL AF053492 http://www.ebi.ac.uk/ena/data/view/AF053492 EMBL AF053493 http://www.ebi.ac.uk/ena/data/view/AF053493 EMBL AF053494 http://www.ebi.ac.uk/ena/data/view/AF053494 EMBL AF053495 http://www.ebi.ac.uk/ena/data/view/AF053495 EMBL AK289561 http://www.ebi.ac.uk/ena/data/view/AK289561 EMBL AK297304 http://www.ebi.ac.uk/ena/data/view/AK297304 EMBL AK312591 http://www.ebi.ac.uk/ena/data/view/AK312591 EMBL AY437083 http://www.ebi.ac.uk/ena/data/view/AY437083 EMBL AY437084 http://www.ebi.ac.uk/ena/data/view/AY437084 EMBL BC032864 http://www.ebi.ac.uk/ena/data/view/BC032864 EMBL CH471074 http://www.ebi.ac.uk/ena/data/view/CH471074 EMBL CH471074 http://www.ebi.ac.uk/ena/data/view/CH471074 EMBL CR450343 http://www.ebi.ac.uk/ena/data/view/CR450343 EMBL U77724 http://www.ebi.ac.uk/ena/data/view/U77724 EMBL U77724 http://www.ebi.ac.uk/ena/data/view/U77724 EMBL U77725 http://www.ebi.ac.uk/ena/data/view/U77725 EMBL U77725 http://www.ebi.ac.uk/ena/data/view/U77725 EMBL U77726 http://www.ebi.ac.uk/ena/data/view/U77726 EMBL U77726 http://www.ebi.ac.uk/ena/data/view/U77726 EMBL U77727 http://www.ebi.ac.uk/ena/data/view/U77727 EMBL U77727 http://www.ebi.ac.uk/ena/data/view/U77727 EMBL U77728 http://www.ebi.ac.uk/ena/data/view/U77728 EMBL U77728 http://www.ebi.ac.uk/ena/data/view/U77728 EMBL U77729 http://www.ebi.ac.uk/ena/data/view/U77729 EMBL U77729 http://www.ebi.ac.uk/ena/data/view/U77729 EMBL U77730 http://www.ebi.ac.uk/ena/data/view/U77730 EMBL U77730 http://www.ebi.ac.uk/ena/data/view/U77730 EMBL U77731 http://www.ebi.ac.uk/ena/data/view/U77731 EMBL U77731 http://www.ebi.ac.uk/ena/data/view/U77731 EMBL X52008 http://www.ebi.ac.uk/ena/data/view/X52008 Ensembl ENST00000218075 http://www.ensembl.org/id/ENST00000218075 Ensembl ENST00000355020 http://www.ensembl.org/id/ENST00000355020 Ensembl ENST00000443437 http://www.ensembl.org/id/ENST00000443437 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0034707 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034707 GO_component GO:0042995 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042995 GO_component GO:0045211 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045211 GO_function GO:0016594 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016594 GO_function GO:0016934 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016934 GO_function GO:0022852 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022852 GO_function GO:0046872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046872 GO_process GO:0007218 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007218 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0060012 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060012 GO_process GO:0071230 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071230 GO_process GO:0071294 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071294 GO_process GO:0071361 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071361 GO_process GO:1902476 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902476 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 2.70.170.10 http://www.cathdb.info/version/latest/superfamily/2.70.170.10 GeneCards GLRA2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=GLRA2 GeneID 2742 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=2742 GeneTree ENSGT00760000118821 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118821 H-InvDB HIX0016955 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0016955 HGNC HGNC:4327 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:4327 HOGENOM HOG000231336 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231336&db=HOGENOM6 HOVERGEN HBG051707 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG051707&db=HOVERGEN HPA CAB070422 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB070422 InParanoid P23416 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P23416 IntAct P23416 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P23416* InterPro IPR006028 http://www.ebi.ac.uk/interpro/entry/IPR006028 InterPro IPR006029 http://www.ebi.ac.uk/interpro/entry/IPR006029 InterPro IPR006201 http://www.ebi.ac.uk/interpro/entry/IPR006201 InterPro IPR006202 http://www.ebi.ac.uk/interpro/entry/IPR006202 InterPro IPR008127 http://www.ebi.ac.uk/interpro/entry/IPR008127 InterPro IPR008129 http://www.ebi.ac.uk/interpro/entry/IPR008129 InterPro IPR018000 http://www.ebi.ac.uk/interpro/entry/IPR018000 Jabion 2742 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=2742 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:2742 http://www.genome.jp/dbget-bin/www_bget?hsa:2742 KEGG_Orthology KO:K05194 http://www.genome.jp/dbget-bin/www_bget?KO:K05194 KEGG_Pathway ko04080 http://www.genome.jp/kegg-bin/show_pathway?ko04080 MIM 305990 http://www.ncbi.nlm.nih.gov/omim/305990 MINT MINT-1412636 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1412636 OMA FREAFCK http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=FREAFCK OrthoDB EOG091G0805 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0805 PANTHER PTHR18945 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR18945 PRINTS PR00252 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00252 PRINTS PR00253 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00253 PRINTS PR01673 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01673 PRINTS PR01675 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01675 PROSITE PS00236 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00236 PSORT swissprot:GLRA2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:GLRA2_HUMAN PSORT-B swissprot:GLRA2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:GLRA2_HUMAN PSORT2 swissprot:GLRA2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:GLRA2_HUMAN Pfam PF02931 http://pfam.xfam.org/family/PF02931 Pfam PF02932 http://pfam.xfam.org/family/PF02932 PharmGKB PA28728 http://www.pharmgkb.org/do/serve?objId=PA28728&objCls=Gene Phobius swissprot:GLRA2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:GLRA2_HUMAN PhylomeDB P23416 http://phylomedb.org/?seqid=P23416 ProteinModelPortal P23416 http://www.proteinmodelportal.org/query/uniprot/P23416 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15302677 http://www.ncbi.nlm.nih.gov/pubmed/15302677 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15772651 http://www.ncbi.nlm.nih.gov/pubmed/15772651 PubMed 16144831 http://www.ncbi.nlm.nih.gov/pubmed/16144831 PubMed 2155780 http://www.ncbi.nlm.nih.gov/pubmed/2155780 PubMed 23895467 http://www.ncbi.nlm.nih.gov/pubmed/23895467 PubMed 25445488 http://www.ncbi.nlm.nih.gov/pubmed/25445488 PubMed 8973915 http://www.ncbi.nlm.nih.gov/pubmed/8973915 PubMed 9674912 http://www.ncbi.nlm.nih.gov/pubmed/9674912 Reactome R-HSA-975298 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-975298 RefSeq NP_001112357 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001112357 RefSeq NP_001112358 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001112358 RefSeq NP_001165413 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001165413 RefSeq NP_002054 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_002054 RefSeq XP_016884916 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016884916 RefSeq XP_016884917 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016884917 RefSeq XP_016884918 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016884918 SMR P23416 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P23416 STRING 9606.ENSP00000218075 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000218075&targetmode=cogs SUPFAM SSF63712 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF63712 SUPFAM SSF90112 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF90112 TCDB 1.A.9.3 http://www.tcdb.org/search/result.php?tc=1.A.9.3 TIGRFAMs TIGR00860 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00860 UCSC uc004cwe http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc004cwe&org=rat UniGene Hs.2700 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.2700 UniProtKB GLRA2_HUMAN http://www.uniprot.org/uniprot/GLRA2_HUMAN UniProtKB-AC P23416 http://www.uniprot.org/uniprot/P23416 charge swissprot:GLRA2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:GLRA2_HUMAN eggNOG ENOG410XPWH http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XPWH eggNOG KOG3643 http://eggnogapi.embl.de/nog_data/html/tree/KOG3643 epestfind swissprot:GLRA2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:GLRA2_HUMAN garnier swissprot:GLRA2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:GLRA2_HUMAN helixturnhelix swissprot:GLRA2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:GLRA2_HUMAN hmoment swissprot:GLRA2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:GLRA2_HUMAN iep swissprot:GLRA2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:GLRA2_HUMAN inforesidue swissprot:GLRA2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:GLRA2_HUMAN neXtProt NX_P23416 http://www.nextprot.org/db/entry/NX_P23416 octanol swissprot:GLRA2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:GLRA2_HUMAN pepcoil swissprot:GLRA2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:GLRA2_HUMAN pepdigest swissprot:GLRA2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:GLRA2_HUMAN pepinfo swissprot:GLRA2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:GLRA2_HUMAN pepnet swissprot:GLRA2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:GLRA2_HUMAN pepstats swissprot:GLRA2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:GLRA2_HUMAN pepwheel swissprot:GLRA2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:GLRA2_HUMAN pepwindow swissprot:GLRA2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:GLRA2_HUMAN sigcleave swissprot:GLRA2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:GLRA2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS SO1C1_HUMAN Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q9NYB5-1; Sequence=Displayed; Name=2; IsoId=Q9NYB5-2; Sequence=VSP_042882; Note=No experimental confirmation available.; Name=3; IsoId=Q9NYB5-3; Sequence=VSP_045279; Note=Ref.3 (BAH14027) sequence is in conflict in position 660 T->S. {ECO 0000305}; Name=4; IsoId=Q9NYB5-4; Sequence=VSP_045278, VSP_045279; Note=No experimental confirmation available. Ref.3 (BAH11737) sequence is in conflict in position 559 S->F. {ECO 0000305}; # AltName SO1C1_HUMAN Organic anion transporter F # AltName SO1C1_HUMAN Organic anion transporter polypeptide-related protein 5 # AltName SO1C1_HUMAN Organic anion-transporting polypeptide 14 # AltName SO1C1_HUMAN Solute carrier family 21 member 14 # AltName SO1C1_HUMAN Thyroxine transporter # CCDS CCDS53757 -. [Q9NYB5-3] # CCDS CCDS53758 -. [Q9NYB5-2] # CCDS CCDS53759 -. [Q9NYB5-4] # CCDS CCDS8683 -. [Q9NYB5-1] # CDD cd06174 MFS # DrugBank DB00252 Phenytoin # DrugBank DB00279 Liothyronine # DrugBank DB00286 Conjugated Estrogens # DrugBank DB00390 Digoxin # DrugBank DB00451 Levothyroxine # DrugBank DB00509 Dextrothyroxine # DrugBank DB00563 Methotrexate # DrugBank DB00586 Diclofenac # DrugBank DB00783 Estradiol # DrugBank DB00917 Dinoprostone # DrugBank DB00939 Meclofenamic acid # DrugBank DB01032 Probenecid # DrugBank DB01092 Ouabain # DrugBank DB01583 Liotrix # Ensembl ENST00000266509 ENSP00000266509; ENSG00000139155. [Q9NYB5-1] # Ensembl ENST00000540354 ENSP00000438665; ENSG00000139155. [Q9NYB5-2] # Ensembl ENST00000545102 ENSP00000444527; ENSG00000139155. [Q9NYB5-4] # Ensembl ENST00000545604 ENSP00000444149; ENSG00000139155. [Q9NYB5-3] # ExpressionAtlas Q9NYB5 baseline and differential # FUNCTION SO1C1_HUMAN Mediates the Na(+)-independent high affinity transport of organic anions such as the thyroid hormones thyroxine (T4) and rT3. Other potential substrates, such as triiodothyronine (T3), 17-beta-glucuronosyl estradiol, estrone-3-sulfate and sulfobromophthalein (BSP) are transported with much lower efficiency. May play a signifiant role in regulating T4 flux into and out of the brain (By similarity). {ECO 0000250}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_function GO:0015125 bile acid transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015347 sodium-independent organic anion transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015349 thyroid hormone transmembrane transporter activity; TAS:Reactome. # GO_process GO:0008206 bile acid metabolic process; IBA:GO_Central. # GO_process GO:0043252 sodium-independent organic anion transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006629 lipid metabolic process # GOslim_process GO:0006810 transport # GOslim_process GO:0044281 small molecule metabolic process # Genevisible Q9NYB5 HS # HGNC HGNC:13819 SLCO1C1 # InterPro IPR002350 Kazal_dom # InterPro IPR004156 OA_transporter # InterPro IPR020846 MFS_dom # InterPro IPR030764 OATP1C1 # KEGG_Brite ko02001 Solute carrier family # MIM 613389 gene # Organism SO1C1_HUMAN Homo sapiens (Human) # PANTHER PTHR11388 PTHR11388 # PANTHER PTHR11388:SF99 PTHR11388:SF99 # PROSITE PS50850 MFS # PROSITE PS51465 KAZAL_2 # Pfam PF03137 OATP # Pfam PF07648 Kazal_2 # Proteomes UP000005640 Chromosome 12 # Reactome R-HSA-879518 Transport of organic anions # RecName SO1C1_HUMAN Solute carrier organic anion transporter family member 1C1 # RefSeq NP_001139416 NM_001145944.1. [Q9NYB5-4] # RefSeq NP_001139417 NM_001145945.1. [Q9NYB5-2] # RefSeq NP_001139418 NM_001145946.1. [Q9NYB5-3] # RefSeq NP_059131 NM_017435.4. [Q9NYB5-1] # RefSeq XP_005253451 XM_005253394.2. [Q9NYB5-1] # RefSeq XP_005253453 XM_005253396.2. [Q9NYB5-4] # RefSeq XP_011519011 XM_011520709.2. [Q9NYB5-4] # RefSeq XP_016874973 XM_017019484.1. [Q9NYB5-4] # RefSeq XP_016874974 XM_017019485.1. [Q9NYB5-4] # SIMILARITY Belongs to the organo anion transporter (TC 2.A.60) family. {ECO 0000305}. # SIMILARITY Contains 1 Kazal-like domain. {ECO:0000255|PROSITE- ProRule PRU00798}. # SUBCELLULAR LOCATION SO1C1_HUMAN Cell membrane {ECO 0000269|PubMed 18687783}; Multi-pass membrane protein {ECO 0000269|PubMed 18687783}. Note=Expressed in both luminal and abluminal membranes of brain capillary endothelial cells. Localized to the apical membrane and basal surfaces of choroid plexus (By similarity). {ECO 0000250}. # SUPFAM SSF103473 SSF103473; 4 # TCDB 2.A.60.1.15 the organo anion transporter (oat) family # TIGRFAMs TIGR00805 oat # TISSUE SPECIFICITY Highly expressed in brain and in Leydig cells in testis. Detected in many brain regions with the exception of pons and cerebellum. Not strongly enriched in cerebral microvessels. {ECO:0000269|PubMed 18687783}. # UCSC uc001rei human. [Q9NYB5-1] # eggNOG ENOG410XRSF LUCA # eggNOG KOG3626 Eukaryota BLAST swissprot:SO1C1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SO1C1_HUMAN BioCyc ZFISH:ENSG00000139155-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000139155-MONOMER COXPRESdb 53919 http://coxpresdb.jp/data/gene/53919.shtml CleanEx HS_SLCO1C1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLCO1C1 DOI 10.1038/nature04569 http://dx.doi.org/10.1038/nature04569 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 DOI 10.1210/en.2008-0378 http://dx.doi.org/10.1210/en.2008-0378 DOI 10.1210/me.2001-0309 http://dx.doi.org/10.1210/me.2001-0309 DrugBank DB00252 http://www.drugbank.ca/drugs/DB00252 DrugBank DB00279 http://www.drugbank.ca/drugs/DB00279 DrugBank DB00286 http://www.drugbank.ca/drugs/DB00286 DrugBank DB00390 http://www.drugbank.ca/drugs/DB00390 DrugBank DB00451 http://www.drugbank.ca/drugs/DB00451 DrugBank DB00509 http://www.drugbank.ca/drugs/DB00509 DrugBank DB00563 http://www.drugbank.ca/drugs/DB00563 DrugBank DB00586 http://www.drugbank.ca/drugs/DB00586 DrugBank DB00783 http://www.drugbank.ca/drugs/DB00783 DrugBank DB00917 http://www.drugbank.ca/drugs/DB00917 DrugBank DB00939 http://www.drugbank.ca/drugs/DB00939 DrugBank DB01032 http://www.drugbank.ca/drugs/DB01032 DrugBank DB01092 http://www.drugbank.ca/drugs/DB01092 DrugBank DB01583 http://www.drugbank.ca/drugs/DB01583 EMBL AC092491 http://www.ebi.ac.uk/ena/data/view/AC092491 EMBL AF205076 http://www.ebi.ac.uk/ena/data/view/AF205076 EMBL AF260704 http://www.ebi.ac.uk/ena/data/view/AF260704 EMBL AK294333 http://www.ebi.ac.uk/ena/data/view/AK294333 EMBL AK296236 http://www.ebi.ac.uk/ena/data/view/AK296236 EMBL AK303713 http://www.ebi.ac.uk/ena/data/view/AK303713 EMBL AL834209 http://www.ebi.ac.uk/ena/data/view/AL834209 EMBL BC022461 http://www.ebi.ac.uk/ena/data/view/BC022461 Ensembl ENST00000266509 http://www.ensembl.org/id/ENST00000266509 Ensembl ENST00000540354 http://www.ensembl.org/id/ENST00000540354 Ensembl ENST00000545102 http://www.ensembl.org/id/ENST00000545102 Ensembl ENST00000545604 http://www.ensembl.org/id/ENST00000545604 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0015125 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015125 GO_function GO:0015347 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015347 GO_function GO:0015349 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015349 GO_process GO:0008206 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008206 GO_process GO:0043252 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043252 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006629 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006629 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GeneCards SLCO1C1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLCO1C1 GeneID 53919 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=53919 GeneTree ENSGT00760000119014 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119014 HGNC HGNC:13819 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:13819 HOGENOM HOG000231269 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231269&db=HOGENOM6 HOVERGEN HBG063896 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG063896&db=HOVERGEN HPA CAB022193 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB022193 InParanoid Q9NYB5 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9NYB5 InterPro IPR002350 http://www.ebi.ac.uk/interpro/entry/IPR002350 InterPro IPR004156 http://www.ebi.ac.uk/interpro/entry/IPR004156 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 InterPro IPR030764 http://www.ebi.ac.uk/interpro/entry/IPR030764 Jabion 53919 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=53919 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:53919 http://www.genome.jp/dbget-bin/www_bget?hsa:53919 KEGG_Orthology KO:K08747 http://www.genome.jp/dbget-bin/www_bget?KO:K08747 MIM 613389 http://www.ncbi.nlm.nih.gov/omim/613389 OMA YWPGKET http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=YWPGKET OrthoDB EOG091G08QD http://cegg.unige.ch/orthodb/results?searchtext=EOG091G08QD PANTHER PTHR11388 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11388 PANTHER PTHR11388:SF99 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11388:SF99 PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PROSITE PS51465 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51465 PSORT swissprot:SO1C1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SO1C1_HUMAN PSORT-B swissprot:SO1C1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SO1C1_HUMAN PSORT2 swissprot:SO1C1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SO1C1_HUMAN Pfam PF03137 http://pfam.xfam.org/family/PF03137 Pfam PF07648 http://pfam.xfam.org/family/PF07648 PharmGKB PA37815 http://www.pharmgkb.org/do/serve?objId=PA37815&objCls=Gene Phobius swissprot:SO1C1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SO1C1_HUMAN PhylomeDB Q9NYB5 http://phylomedb.org/?seqid=Q9NYB5 ProteinModelPortal Q9NYB5 http://www.proteinmodelportal.org/query/uniprot/Q9NYB5 PubMed 12351693 http://www.ncbi.nlm.nih.gov/pubmed/12351693 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16541075 http://www.ncbi.nlm.nih.gov/pubmed/16541075 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 PubMed 18687783 http://www.ncbi.nlm.nih.gov/pubmed/18687783 Reactome R-HSA-879518 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-879518 RefSeq NP_001139416 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001139416 RefSeq NP_001139417 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001139417 RefSeq NP_001139418 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001139418 RefSeq NP_059131 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_059131 RefSeq XP_005253451 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005253451 RefSeq XP_005253453 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005253453 RefSeq XP_011519011 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011519011 RefSeq XP_016874973 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016874973 RefSeq XP_016874974 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016874974 STRING 9606.ENSP00000370964 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000370964&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.60.1.15 http://www.tcdb.org/search/result.php?tc=2.A.60.1.15 TIGRFAMs TIGR00805 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00805 UCSC uc001rei http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001rei&org=rat UniGene Hs.47261 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.47261 UniProtKB SO1C1_HUMAN http://www.uniprot.org/uniprot/SO1C1_HUMAN UniProtKB-AC Q9NYB5 http://www.uniprot.org/uniprot/Q9NYB5 charge swissprot:SO1C1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SO1C1_HUMAN eggNOG ENOG410XRSF http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XRSF eggNOG KOG3626 http://eggnogapi.embl.de/nog_data/html/tree/KOG3626 epestfind swissprot:SO1C1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SO1C1_HUMAN garnier swissprot:SO1C1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SO1C1_HUMAN helixturnhelix swissprot:SO1C1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SO1C1_HUMAN hmoment swissprot:SO1C1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SO1C1_HUMAN iep swissprot:SO1C1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SO1C1_HUMAN inforesidue swissprot:SO1C1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SO1C1_HUMAN neXtProt NX_Q9NYB5 http://www.nextprot.org/db/entry/NX_Q9NYB5 octanol swissprot:SO1C1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SO1C1_HUMAN pepcoil swissprot:SO1C1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SO1C1_HUMAN pepdigest swissprot:SO1C1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SO1C1_HUMAN pepinfo swissprot:SO1C1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SO1C1_HUMAN pepnet swissprot:SO1C1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SO1C1_HUMAN pepstats swissprot:SO1C1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SO1C1_HUMAN pepwheel swissprot:SO1C1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SO1C1_HUMAN pepwindow swissprot:SO1C1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SO1C1_HUMAN sigcleave swissprot:SO1C1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SO1C1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S35A1_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P78382-1; Sequence=Displayed; Name=2; IsoId=P78382-2; Sequence=VSP_042916; Note=No experimental confirmation available.; # AltName S35A1_HUMAN Solute carrier family 35 member A1 # BioGrid 115810 4 # CCDS CCDS5010 -. [P78382-1] # CCDS CCDS55043 -. [P78382-2] # ChiTaRS SLC35A1 human # DISEASE S35A1_HUMAN Congenital disorder of glycosylation 2F (CDG2F) [MIM 603585] CDGs are a family of severe inherited diseases caused by a defect in protein N-glycosylation. They are characterized by under-glycosylated serum proteins. These multisystem disorders present with a wide variety of clinical features, such as disorders of the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. {ECO 0000269|PubMed 15576474}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000369552 ENSP00000358565; ENSG00000164414. [P78382-1] # Ensembl ENST00000369556 ENSP00000358569; ENSG00000164414. [P78382-2] # ExpressionAtlas P78382 baseline and differential # FUNCTION S35A1_HUMAN Transports CMP-sialic acid from the cytosol into Golgi vesicles where glycosyltransferases function. # GO_component GO:0000139 Golgi membrane; TAS:Reactome. # GO_component GO:0005794 Golgi apparatus; TAS:ProtInc. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_function GO:0005456 CMP-N-acetylneuraminate transmembrane transporter activity; TAS:Reactome. # GO_function S35A1_HUMAN GO 0005351 sugar proton symporter activity; IEA InterPro. # GO_process GO:0005975 carbohydrate metabolic process; TAS:ProtInc. # GO_process GO:0006464 cellular protein modification process; TAS:ProtInc. # GO_process GO:0015782 CMP-N-acetylneuraminate transport; TAS:ProtInc. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005794 Golgi apparatus # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0005975 carbohydrate metabolic process # GOslim_process GO:0006464 cellular protein modification process # GOslim_process GO:0006810 transport # Genevisible P78382 HS # HGNC HGNC:11021 SLC35A1 # InterPro IPR007271 Nuc_sug_transpt # KEGG_Brite ko02001 Solute carrier family # KEGG_Disease H00119 [Inherited metabolic disease] Congenital disorders of glycosylation (CDG) type II # MIM 603585 phenotype # MIM 605634 gene # Organism S35A1_HUMAN Homo sapiens (Human) # Orphanet 238459 SLC35A1-CDG # PANTHER PTHR10231 PTHR10231 # PIR JC5023 JC5023 # PIRSF PIRSF005799 UDP-gal_transpt # Pfam PF04142 Nuc_sug_transp # Proteomes UP000005640 Chromosome 6 # Reactome R-HSA-4085001 Sialic acid metabolism # Reactome R-HSA-727802 Transport of nucleotide sugars # RecName S35A1_HUMAN CMP-sialic acid transporter # RefSeq NP_001161870 NM_001168398.1. [P78382-2] # RefSeq NP_006407 NM_006416.4. [P78382-1] # SIMILARITY Belongs to the nucleotide-sugar transporter family. SLC35A subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION S35A1_HUMAN Golgi apparatus membrane; Multi-pass membrane protein. # TCDB 2.A.7.12.11 the drug/metabolite transporter (dmt) superfamily # UCSC uc010kbx human. [P78382-1] # eggNOG COG0697 LUCA # eggNOG KOG2234 Eukaryota BLAST swissprot:S35A1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S35A1_HUMAN COXPRESdb 10559 http://coxpresdb.jp/data/gene/10559.shtml CleanEx HS_SLC35A1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC35A1 DOI 10.1038/nature02055 http://dx.doi.org/10.1038/nature02055 DOI 10.1093/oxfordjournals.jbchem.a021523 http://dx.doi.org/10.1093/oxfordjournals.jbchem.a021523 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1182/blood-2004-09-3509 http://dx.doi.org/10.1182/blood-2004-09-3509 EMBL AJ851888 http://www.ebi.ac.uk/ena/data/view/AJ851888 EMBL AL049697 http://www.ebi.ac.uk/ena/data/view/AL049697 EMBL BC017807 http://www.ebi.ac.uk/ena/data/view/BC017807 EMBL D87969 http://www.ebi.ac.uk/ena/data/view/D87969 Ensembl ENST00000369552 http://www.ensembl.org/id/ENST00000369552 Ensembl ENST00000369556 http://www.ensembl.org/id/ENST00000369556 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000139 GO_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0005351 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005351 GO_function GO:0005456 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005456 GO_process GO:0005975 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005975 GO_process GO:0006464 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006464 GO_process GO:0015782 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015782 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0005975 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005975 GOslim_process GO:0006464 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006464 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GeneCards SLC35A1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC35A1 GeneID 10559 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=10559 GeneTree ENSGT00550000074563 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074563 HGNC HGNC:11021 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11021 HOGENOM HOG000216649 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000216649&db=HOGENOM6 HOVERGEN HBG054025 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG054025&db=HOVERGEN InParanoid P78382 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P78382 InterPro IPR007271 http://www.ebi.ac.uk/interpro/entry/IPR007271 Jabion 10559 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=10559 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Disease H00119 http://www.genome.jp/dbget-bin/www_bget?H00119 KEGG_Gene hsa:10559 http://www.genome.jp/dbget-bin/www_bget?hsa:10559 KEGG_Orthology KO:K15272 http://www.genome.jp/dbget-bin/www_bget?KO:K15272 MIM 603585 http://www.ncbi.nlm.nih.gov/omim/603585 MIM 605634 http://www.ncbi.nlm.nih.gov/omim/605634 OMA RNIQLYL http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=RNIQLYL Orphanet 238459 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=238459 OrthoDB EOG091G0CHS http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0CHS PANTHER PTHR10231 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10231 PSORT swissprot:S35A1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S35A1_HUMAN PSORT-B swissprot:S35A1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S35A1_HUMAN PSORT2 swissprot:S35A1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S35A1_HUMAN Pfam PF04142 http://pfam.xfam.org/family/PF04142 PharmGKB PA35889 http://www.pharmgkb.org/do/serve?objId=PA35889&objCls=Gene Phobius swissprot:S35A1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S35A1_HUMAN PhylomeDB P78382 http://phylomedb.org/?seqid=P78382 ProteinModelPortal P78382 http://www.proteinmodelportal.org/query/uniprot/P78382 PubMed 14574404 http://www.ncbi.nlm.nih.gov/pubmed/14574404 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15576474 http://www.ncbi.nlm.nih.gov/pubmed/15576474 PubMed 9010752 http://www.ncbi.nlm.nih.gov/pubmed/9010752 Reactome R-HSA-4085001 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-4085001 Reactome R-HSA-727802 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-727802 RefSeq NP_001161870 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001161870 RefSeq NP_006407 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_006407 STRING 9606.ENSP00000358565 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000358565&targetmode=cogs TCDB 2.A.7.12.11 http://www.tcdb.org/search/result.php?tc=2.A.7.12.11 UCSC uc010kbx http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc010kbx&org=rat UniGene Hs.423163 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.423163 UniProtKB S35A1_HUMAN http://www.uniprot.org/uniprot/S35A1_HUMAN UniProtKB-AC P78382 http://www.uniprot.org/uniprot/P78382 charge swissprot:S35A1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S35A1_HUMAN eggNOG COG0697 http://eggnogapi.embl.de/nog_data/html/tree/COG0697 eggNOG KOG2234 http://eggnogapi.embl.de/nog_data/html/tree/KOG2234 epestfind swissprot:S35A1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S35A1_HUMAN garnier swissprot:S35A1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S35A1_HUMAN helixturnhelix swissprot:S35A1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S35A1_HUMAN hmoment swissprot:S35A1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S35A1_HUMAN iep swissprot:S35A1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S35A1_HUMAN inforesidue swissprot:S35A1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S35A1_HUMAN neXtProt NX_P78382 http://www.nextprot.org/db/entry/NX_P78382 octanol swissprot:S35A1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S35A1_HUMAN pepcoil swissprot:S35A1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S35A1_HUMAN pepdigest swissprot:S35A1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S35A1_HUMAN pepinfo swissprot:S35A1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S35A1_HUMAN pepnet swissprot:S35A1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S35A1_HUMAN pepstats swissprot:S35A1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S35A1_HUMAN pepwheel swissprot:S35A1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S35A1_HUMAN pepwindow swissprot:S35A1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S35A1_HUMAN sigcleave swissprot:S35A1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S35A1_HUMAN ## Database ID URL or Descriptions # AltName VATB1_HUMAN Endomembrane proton pump 58 kDa subunit # AltName VATB1_HUMAN Vacuolar proton pump subunit B 1 # BioGrid 107008 93 # DISEASE VATB1_HUMAN Renal tubular acidosis, distal, with progressive nerve deafness (dRTA-D) [MIM 267300] An autosomal recessive disease characterized by the association of renal distal tubular acidosis with sensorineural hearing loss. Distal renal tubular acidosis is characterized by reduced ability to acidify urine, variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis. It is due to functional failure of alpha- intercalated cells of the cortical collecting duct of the distal nephron, where vectorial proton transport is required for urinary acidification. {ECO 0000269|PubMed 12414817, ECO 0000269|PubMed 12579397, ECO 0000269|PubMed 9916796}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DOMAIN VATB1_HUMAN The PDZ-binding motif mediates interactions with SLC9A3R1 and SCL4A7. {ECO 0000269|PubMed 12444018}. # Ensembl ENST00000234396 ENSP00000234396; ENSG00000116039 # ExpressionAtlas P15313 baseline and differential # FUNCTION VATB1_HUMAN Non-catalytic subunit of the peripheral V1 complex of vacuolar ATPase. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. # GO_component GO:0005737 cytoplasm; ISS:UniProtKB. # GO_component GO:0005829 cytosol; TAS:Reactome. # GO_component GO:0005902 microvillus; ISS:UniProtKB. # GO_component GO:0012505 endomembrane system; IEA:UniProtKB-SubCell. # GO_component GO:0016323 basolateral plasma membrane; ISS:UniProtKB. # GO_component GO:0016324 apical plasma membrane; IDA:UniProtKB. # GO_component GO:0016328 lateral plasma membrane; ISS:UniProtKB. # GO_component GO:0016471 vacuolar proton-transporting V-type ATPase complex; IMP:HGNC. # GO_component GO:0033180 proton-transporting V-type ATPase, V1 domain; IEA:InterPro. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0005524 ATP binding; IEA:InterPro. # GO_function GO:0015078 hydrogen ion transmembrane transporter activity; ISS:UniProtKB. # GO_function GO:0016820 hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances; IEA:InterPro. # GO_process GO:0001503 ossification; IMP:HGNC. # GO_process GO:0006885 regulation of pH; IMP:HGNC. # GO_process GO:0007588 excretion; IMP:UniProtKB. # GO_process GO:0007605 sensory perception of sound; IMP:UniProtKB. # GO_process GO:0008286 insulin receptor signaling pathway; TAS:Reactome. # GO_process GO:0015991 ATP hydrolysis coupled proton transport; IEA:InterPro. # GO_process GO:0015992 proton transport; IMP:HGNC. # GO_process GO:0016241 regulation of macroautophagy; NAS:ParkinsonsUK-UCL. # GO_process GO:0033572 transferrin transport; TAS:Reactome. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0042472 inner ear morphogenesis; IMP:UniProtKB. # GO_process GO:0045851 pH reduction; IMP:UniProtKB. # GO_process GO:0046034 ATP metabolic process; IEA:InterPro. # GO_process GO:0055074 calcium ion homeostasis; IMP:UniProtKB. # GO_process GO:0090383 phagosome acidification; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005829 cytosol # GOslim_component GO:0043226 organelle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0044281 small molecule metabolic process # GOslim_process GO:0050877 neurological system process # GOslim_process GO:0055085 transmembrane transport # Gene3D 3.40.50.300 -; 1. # Genevisible P15313 HS # HAMAP MF_00310 ATP_synth_B_arch # HGNC HGNC:853 ATP6V1B1 # IntAct P15313 5 # InterPro IPR000194 ATPase_F1/V1/A1_a/bsu_nucl-bd # InterPro IPR004100 ATPase_F1/V1/A1_a/bsu_N # InterPro IPR005723 ATPase_V1-cplx_bsu # InterPro IPR020003 ATPase_a/bsu_AS # InterPro IPR022879 V-ATPase_su_B/beta # InterPro IPR027417 P-loop_NTPase # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Brite ko01000 Enzymes # KEGG_Disease H00428 [Urinary system disease] Distal renal tubular acidosis (RTA type 1) # KEGG_Pathway ko00190 Oxidative phosphorylation # KEGG_Pathway ko04145 Phagosome # KEGG_Pathway ko04721 Synaptic vesicle cycle # KEGG_Pathway ko04966 Collecting duct acid secretion # KEGG_Pathway ko05110 Vibrio cholerae infection # KEGG_Pathway ko05120 Epithelial cell signaling in Helicobacter pylori infection # KEGG_Pathway ko05323 Rheumatoid arthritis # MIM 192132 gene # MIM 267300 phenotype # Organism VATB1_HUMAN Homo sapiens (Human) # Orphanet 402041 Autosomal recessive distal renal tubular acidosis # PIR A33281 A33281 # PIRSF PIRSF039114 V-ATPsynth_beta/V-ATPase_B # PROSITE PS00152 ATPASE_ALPHA_BETA # Pfam PF00006 ATP-synt_ab # Pfam PF02874 ATP-synt_ab_N # Proteomes UP000005640 Chromosome 2 # Reactome R-HSA-1222556 ROS, RNS production in response to bacteria # Reactome R-HSA-77387 Insulin receptor recycling # Reactome R-HSA-917977 Transferrin endocytosis and recycling # Reactome R-HSA-983712 Ion channel transport # RecName VATB1_HUMAN V-type proton ATPase subunit B, kidney isoform # RefSeq NP_001683 NM_001692.3 # SEQUENCE CAUTION Sequence=AAA36498.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the ATPase alpha/beta chains family. {ECO 0000305}. # SUBCELLULAR LOCATION VATB1_HUMAN Endomembrane system; Peripheral membrane protein. Note=Endomembrane. # SUBUNIT V-ATPase is a heteromultimeric enzyme composed of a peripheral catalytic V1 complex (main components: subunits A, B, C, D, E, and F) attached to an integral membrane V0 proton pore complex (main component the proteolipid protein). Forms a complex with SLC9A3R1 and SCL4A7. # SUPFAM SSF52540 SSF52540 # TCDB 3.A.2.2 the h(+)- or na(+)-translocating f-type, v-type and a-type atpase (f-atpase) superfamily # TIGRFAMs TIGR01040 V-ATPase_V1_B # TISSUE SPECIFICITY Expressed in the cochlea and endolymphatic sac. {ECO:0000269|PubMed 9916796}. # UCSC uc002shj human # eggNOG COG1156 LUCA # eggNOG KOG1351 Eukaryota BLAST swissprot:VATB1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:VATB1_HUMAN BioCyc MetaCyc:HS03975-MONOMER http://biocyc.org/getid?id=MetaCyc:HS03975-MONOMER BioCyc ZFISH:HS03975-MONOMER http://biocyc.org/getid?id=ZFISH:HS03975-MONOMER COG COG1156 http://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=COG1156 COXPRESdb 525 http://coxpresdb.jp/data/gene/525.shtml CleanEx HS_ATP6V1B1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ATP6V1B1 DOI 10.1007/s00467-002-1018-8 http://dx.doi.org/10.1007/s00467-002-1018-8 DOI 10.1038/5022 http://dx.doi.org/10.1038/5022 DOI 10.1038/nature19057 http://dx.doi.org/10.1038/nature19057 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.86.16.6067 http://dx.doi.org/10.1073/pnas.86.16.6067 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1136/jmg.39.11.796 http://dx.doi.org/10.1136/jmg.39.11.796 DOI 10.1152/ajpcell.00225.2002 http://dx.doi.org/10.1152/ajpcell.00225.2002 EMBL AK223151 http://www.ebi.ac.uk/ena/data/view/AK223151 EMBL AK291121 http://www.ebi.ac.uk/ena/data/view/AK291121 EMBL AK313194 http://www.ebi.ac.uk/ena/data/view/AK313194 EMBL BC063411 http://www.ebi.ac.uk/ena/data/view/BC063411 EMBL CH471053 http://www.ebi.ac.uk/ena/data/view/CH471053 EMBL M25809 http://www.ebi.ac.uk/ena/data/view/M25809 Ensembl ENST00000234396 http://www.ensembl.org/id/ENST00000234396 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0005902 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005902 GO_component GO:0012505 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0012505 GO_component GO:0016323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016323 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:0016328 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016328 GO_component GO:0016471 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016471 GO_component GO:0033180 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033180 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0015078 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015078 GO_function GO:0016820 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016820 GO_process GO:0001503 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001503 GO_process GO:0006885 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006885 GO_process GO:0007588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007588 GO_process GO:0007605 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007605 GO_process GO:0008286 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008286 GO_process GO:0015991 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015991 GO_process GO:0015992 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015992 GO_process GO:0016241 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016241 GO_process GO:0033572 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033572 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0042472 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042472 GO_process GO:0045851 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045851 GO_process GO:0046034 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046034 GO_process GO:0055074 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055074 GO_process GO:0090383 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090383 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 3.40.50.300 http://www.cathdb.info/version/latest/superfamily/3.40.50.300 GeneCards ATP6V1B1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ATP6V1B1 GeneID 525 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=525 GeneTree ENSGT00550000074724 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074724 HAMAP MF_00310 http://hamap.expasy.org/unirule/MF_00310 HGNC HGNC:853 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:853 HOGENOM HOG000165320 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000165320&db=HOGENOM6 HOVERGEN HBG002176 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG002176&db=HOVERGEN HPA CAB009523 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB009523 HPA HPA031847 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA031847 InParanoid P15313 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P15313 IntAct P15313 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P15313* InterPro IPR000194 http://www.ebi.ac.uk/interpro/entry/IPR000194 InterPro IPR004100 http://www.ebi.ac.uk/interpro/entry/IPR004100 InterPro IPR005723 http://www.ebi.ac.uk/interpro/entry/IPR005723 InterPro IPR020003 http://www.ebi.ac.uk/interpro/entry/IPR020003 InterPro IPR022879 http://www.ebi.ac.uk/interpro/entry/IPR022879 InterPro IPR027417 http://www.ebi.ac.uk/interpro/entry/IPR027417 Jabion 525 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=525 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00002 http://www.genome.jp/dbget-bin/www_bget?ko00002 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Disease H00428 http://www.genome.jp/dbget-bin/www_bget?H00428 KEGG_Gene hsa:525 http://www.genome.jp/dbget-bin/www_bget?hsa:525 KEGG_Orthology KO:K02147 http://www.genome.jp/dbget-bin/www_bget?KO:K02147 KEGG_Pathway ko00190 http://www.genome.jp/kegg-bin/show_pathway?ko00190 KEGG_Pathway ko04145 http://www.genome.jp/kegg-bin/show_pathway?ko04145 KEGG_Pathway ko04721 http://www.genome.jp/kegg-bin/show_pathway?ko04721 KEGG_Pathway ko04966 http://www.genome.jp/kegg-bin/show_pathway?ko04966 KEGG_Pathway ko05110 http://www.genome.jp/kegg-bin/show_pathway?ko05110 KEGG_Pathway ko05120 http://www.genome.jp/kegg-bin/show_pathway?ko05120 KEGG_Pathway ko05323 http://www.genome.jp/kegg-bin/show_pathway?ko05323 MIM 192132 http://www.ncbi.nlm.nih.gov/omim/192132 MIM 267300 http://www.ncbi.nlm.nih.gov/omim/267300 MINT MINT-8417607 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-8417607 OMA GIDSQKT http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=GIDSQKT Orphanet 402041 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=402041 OrthoDB EOG091G04TR http://cegg.unige.ch/orthodb/results?searchtext=EOG091G04TR PROSITE PS00152 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00152 PSORT swissprot:VATB1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:VATB1_HUMAN PSORT-B swissprot:VATB1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:VATB1_HUMAN PSORT2 swissprot:VATB1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:VATB1_HUMAN Pfam PF00006 http://pfam.xfam.org/family/PF00006 Pfam PF02874 http://pfam.xfam.org/family/PF02874 PharmGKB PA25154 http://www.pharmgkb.org/do/serve?objId=PA25154&objCls=Gene Phobius swissprot:VATB1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:VATB1_HUMAN PhylomeDB P15313 http://phylomedb.org/?seqid=P15313 ProteinModelPortal P15313 http://www.proteinmodelportal.org/query/uniprot/P15313 PubMed 12414817 http://www.ncbi.nlm.nih.gov/pubmed/12414817 PubMed 12444018 http://www.ncbi.nlm.nih.gov/pubmed/12444018 PubMed 12579397 http://www.ncbi.nlm.nih.gov/pubmed/12579397 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 2527371 http://www.ncbi.nlm.nih.gov/pubmed/2527371 PubMed 27535533 http://www.ncbi.nlm.nih.gov/pubmed/27535533 PubMed 9916796 http://www.ncbi.nlm.nih.gov/pubmed/9916796 Reactome R-HSA-1222556 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1222556 Reactome R-HSA-77387 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-77387 Reactome R-HSA-917977 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-917977 Reactome R-HSA-983712 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-983712 RefSeq NP_001683 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001683 SMR P15313 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P15313 STRING 9606.ENSP00000234396 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000234396&targetmode=cogs STRING COG1156 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=COG1156&targetmode=cogs SUPFAM SSF52540 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52540 TCDB 3.A.2.2 http://www.tcdb.org/search/result.php?tc=3.A.2.2 TIGRFAMs TIGR01040 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01040 UCSC uc002shj http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002shj&org=rat UniGene Hs.64173 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.64173 UniProtKB VATB1_HUMAN http://www.uniprot.org/uniprot/VATB1_HUMAN UniProtKB-AC P15313 http://www.uniprot.org/uniprot/P15313 charge swissprot:VATB1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:VATB1_HUMAN eggNOG COG1156 http://eggnogapi.embl.de/nog_data/html/tree/COG1156 eggNOG KOG1351 http://eggnogapi.embl.de/nog_data/html/tree/KOG1351 epestfind swissprot:VATB1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:VATB1_HUMAN garnier swissprot:VATB1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:VATB1_HUMAN helixturnhelix swissprot:VATB1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:VATB1_HUMAN hmoment swissprot:VATB1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:VATB1_HUMAN iep swissprot:VATB1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:VATB1_HUMAN inforesidue swissprot:VATB1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:VATB1_HUMAN neXtProt NX_P15313 http://www.nextprot.org/db/entry/NX_P15313 octanol swissprot:VATB1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:VATB1_HUMAN pepcoil swissprot:VATB1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:VATB1_HUMAN pepdigest swissprot:VATB1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:VATB1_HUMAN pepinfo swissprot:VATB1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:VATB1_HUMAN pepnet swissprot:VATB1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:VATB1_HUMAN pepstats swissprot:VATB1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:VATB1_HUMAN pepwheel swissprot:VATB1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:VATB1_HUMAN pepwindow swissprot:VATB1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:VATB1_HUMAN sigcleave swissprot:VATB1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:VATB1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS CTL5_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; Synonyms=A; IsoId=Q8NCS7-1; Sequence=Displayed; Name=2; Synonyms=B; IsoId=Q8NCS7-2; Sequence=VSP_015433; Name=3; IsoId=Q8NCS7-3; Sequence=VSP_036153, VSP_015433; # AltName CTL5_HUMAN Solute carrier family 44 member 5 # BioGrid 128491 8 # CCDS CCDS44164 -. [Q8NCS7-2] # CCDS CCDS667 -. [Q8NCS7-1] # ChiTaRS SLC44A5 human # Ensembl ENST00000370859 ENSP00000359896; ENSG00000137968. [Q8NCS7-2] # ExpressionAtlas Q8NCS7 baseline and differential # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0015220 choline transmembrane transporter activity; TAS:Reactome. # GO_process GO:0006656 phosphatidylcholine biosynthetic process; TAS:Reactome. # GO_process GO:0055085 transmembrane transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006629 lipid metabolic process # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0055085 transmembrane transport # Genevisible Q8NCS7 HS # HGNC HGNC:28524 SLC44A5 # InterPro IPR007603 Choline_transptr-like # KEGG_Brite ko02001 Solute carrier family # Organism CTL5_HUMAN Homo sapiens (Human) # PANTHER PTHR12385 PTHR12385; 2 # Pfam PF04515 Choline_transpo # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-1483191 Synthesis of PC # Reactome R-HSA-425366 Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds # RecName CTL5_HUMAN Choline transporter-like protein 5 # RefSeq NP_001123530 NM_001130058.1. [Q8NCS7-2] # RefSeq NP_001307212 NM_001320283.1 # RefSeq NP_001307214 NM_001320285.1. [Q8NCS7-3] # RefSeq NP_001307216 NM_001320287.1. [Q8NCS7-3] # RefSeq NP_689910 NM_152697.4 # SEQUENCE CAUTION Sequence=BAC03655.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the CTL (choline transporter-like) family. {ECO 0000305}. # SUBCELLULAR LOCATION CTL5_HUMAN Membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. # TCDB 2.A.92.1 the choline transporter-like (ctl) family # UCSC uc001dgt human. [Q8NCS7-1] # eggNOG ENOG410XS0P LUCA # eggNOG KOG1362 Eukaryota BLAST swissprot:CTL5_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CTL5_HUMAN BioCyc ZFISH:ENSG00000137968-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000137968-MONOMER COXPRESdb 204962 http://coxpresdb.jp/data/gene/204962.shtml CleanEx HS_SLC44A5 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC44A5 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1471-4159.2004.02962.x http://dx.doi.org/10.1111/j.1471-4159.2004.02962.x EMBL AC118550 http://www.ebi.ac.uk/ena/data/view/AC118550 EMBL AK091400 http://www.ebi.ac.uk/ena/data/view/AK091400 EMBL AK093170 http://www.ebi.ac.uk/ena/data/view/AK093170 EMBL BC028743 http://www.ebi.ac.uk/ena/data/view/BC028743 EMBL BC034580 http://www.ebi.ac.uk/ena/data/view/BC034580 EMBL BC051740 http://www.ebi.ac.uk/ena/data/view/BC051740 Ensembl ENST00000370859 http://www.ensembl.org/id/ENST00000370859 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0015220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015220 GO_process GO:0006656 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006656 GO_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006629 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006629 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC44A5 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC44A5 GeneID 204962 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=204962 GeneTree ENSGT00550000074521 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074521 HGNC HGNC:28524 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:28524 HOGENOM HOG000007110 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000007110&db=HOGENOM6 HOVERGEN HBG062155 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG062155&db=HOVERGEN HPA HPA047455 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA047455 HPA HPA051011 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA051011 InParanoid Q8NCS7 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8NCS7 InterPro IPR007603 http://www.ebi.ac.uk/interpro/entry/IPR007603 Jabion 204962 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=204962 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:204962 http://www.genome.jp/dbget-bin/www_bget?hsa:204962 KEGG_Orthology KO:K15377 http://www.genome.jp/dbget-bin/www_bget?KO:K15377 PANTHER PTHR12385 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12385 PSORT swissprot:CTL5_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CTL5_HUMAN PSORT-B swissprot:CTL5_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CTL5_HUMAN PSORT2 swissprot:CTL5_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CTL5_HUMAN Pfam PF04515 http://pfam.xfam.org/family/PF04515 PharmGKB PA142670901 http://www.pharmgkb.org/do/serve?objId=PA142670901&objCls=Gene Phobius swissprot:CTL5_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CTL5_HUMAN ProteinModelPortal Q8NCS7 http://www.proteinmodelportal.org/query/uniprot/Q8NCS7 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15715662 http://www.ncbi.nlm.nih.gov/pubmed/15715662 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 Reactome R-HSA-1483191 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1483191 Reactome R-HSA-425366 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-425366 RefSeq NP_001123530 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001123530 RefSeq NP_001307212 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001307212 RefSeq NP_001307214 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001307214 RefSeq NP_001307216 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001307216 RefSeq NP_689910 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_689910 STRING 9606.ENSP00000359892 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000359892&targetmode=cogs TCDB 2.A.92.1 http://www.tcdb.org/search/result.php?tc=2.A.92.1 UCSC uc001dgt http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001dgt&org=rat UniGene Hs.654821 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.654821 UniGene Hs.662961 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.662961 UniProtKB CTL5_HUMAN http://www.uniprot.org/uniprot/CTL5_HUMAN UniProtKB-AC Q8NCS7 http://www.uniprot.org/uniprot/Q8NCS7 charge swissprot:CTL5_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CTL5_HUMAN eggNOG ENOG410XS0P http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XS0P eggNOG KOG1362 http://eggnogapi.embl.de/nog_data/html/tree/KOG1362 epestfind swissprot:CTL5_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CTL5_HUMAN garnier swissprot:CTL5_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CTL5_HUMAN helixturnhelix swissprot:CTL5_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CTL5_HUMAN hmoment swissprot:CTL5_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CTL5_HUMAN iep swissprot:CTL5_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CTL5_HUMAN inforesidue swissprot:CTL5_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CTL5_HUMAN neXtProt NX_Q8NCS7 http://www.nextprot.org/db/entry/NX_Q8NCS7 octanol swissprot:CTL5_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CTL5_HUMAN pepcoil swissprot:CTL5_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CTL5_HUMAN pepdigest swissprot:CTL5_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CTL5_HUMAN pepinfo swissprot:CTL5_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CTL5_HUMAN pepnet swissprot:CTL5_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CTL5_HUMAN pepstats swissprot:CTL5_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CTL5_HUMAN pepwheel swissprot:CTL5_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CTL5_HUMAN pepwindow swissprot:CTL5_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CTL5_HUMAN sigcleave swissprot:CTL5_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CTL5_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS SC6A2_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=P23975-1; Sequence=Displayed; Name=2; IsoId=P23975-2; Sequence=VSP_044479; Name=3; IsoId=P23975-3; Sequence=VSP_054119; # AltName SC6A2_HUMAN Norepinephrine transporter # AltName SC6A2_HUMAN Solute carrier family 6 member 2 # BioGrid 112421 3 # CCDS CCDS10754 -. [P23975-1] # CCDS CCDS54011 -. [P23975-2] # CCDS CCDS58463 -. [P23975-3] # ChiTaRS SLC6A2 human # DISEASE SC6A2_HUMAN Orthostatic intolerance (OI) [MIM 604715] Syndrome characterized by lightheadedness, fatigue, altered mentation and syncope. It is associated with postural tachycardia. Plasma norepinephrine concentration is abnormally high. {ECO 0000269|PubMed 10684912}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DrugBank DB00182 Amphetamine # DrugBank DB00191 Phentermine # DrugBank DB00193 Tramadol # DrugBank DB00215 Citalopram # DrugBank DB00226 Guanadrel # DrugBank DB00234 Reboxetine # DrugBank DB00285 Venlafaxine # DrugBank DB00289 Atomoxetine # DrugBank DB00321 Amitriptyline # DrugBank DB00344 Protriptyline # DrugBank DB00368 Norepinephrine # DrugBank DB00370 Mirtazapine # DrugBank DB00408 Loxapine # DrugBank DB00422 Methylphenidate # DrugBank DB00454 Pethidine # DrugBank DB00458 Imipramine # DrugBank DB00476 Duloxetine # DrugBank DB00514 Dextromethorphan # DrugBank DB00540 Nortriptyline # DrugBank DB00543 Amoxapine # DrugBank DB00579 Mazindol # DrugBank DB00696 Ergotamine # DrugBank DB00715 Paroxetine # DrugBank DB00726 Trimipramine # DrugBank DB00830 Phenmetrazine # DrugBank DB00852 Pseudoephedrine # DrugBank DB00907 Cocaine # DrugBank DB00934 Maprotiline # DrugBank DB00937 Diethylpropion # DrugBank DB00988 Dopamine # DrugBank DB01105 Sibutramine # DrugBank DB01114 Chlorphenamine # DrugBank DB01142 Doxepin # DrugBank DB01149 Nefazodone # DrugBank DB01151 Desipramine # DrugBank DB01156 Bupropion # DrugBank DB01170 Guanethidine # DrugBank DB01173 Orphenadrine # DrugBank DB01175 Escitalopram # DrugBank DB01221 Ketamine # DrugBank DB01242 Clomipramine # DrugBank DB01363 Ephedra # DrugBank DB01364 Ephedrine # DrugBank DB01381 Ginkgo biloba # DrugBank DB01576 Dextroamphetamine # DrugBank DB01577 Methamphetamine # DrugBank DB01579 Phendimetrazine # DrugBank DB04840 Debrisoquin # DrugBank DB04896 Milnacipran # DrugBank DB06148 Mianserin # DrugBank DB06204 Tapentadol # DrugBank DB06262 Droxidopa # DrugBank DB06700 Desvenlafaxine # DrugBank DB06701 Dexmethylphenidate # DrugBank DB06704 Iobenguane # DrugBank DB06707 Levonordefrin # DrugBank DB08918 Levomilnacipran # Ensembl ENST00000219833 ENSP00000219833; ENSG00000103546. [P23975-2] # Ensembl ENST00000379906 ENSP00000369237; ENSG00000103546. [P23975-1] # Ensembl ENST00000567238 ENSP00000457375; ENSG00000103546. [P23975-3] # Ensembl ENST00000568943 ENSP00000457473; ENSG00000103546. [P23975-1] # ExpressionAtlas P23975 baseline and differential # FUNCTION SC6A2_HUMAN Amine transporter. Terminates the action of noradrenaline by its high affinity sodium-dependent reuptake into presynaptic terminals. {ECO 0000269|PubMed 2008212}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0009986 cell surface; IEA:Ensembl. # GO_component GO:0016020 membrane; TAS:ProtInc. # GO_component GO:0043005 neuron projection; IBA:GO_Central. # GO_component GO:0045121 membrane raft; IEA:Ensembl. # GO_function GO:0008504 monoamine transmembrane transporter activity; IDA:MGI. # GO_function GO:0046872 metal ion binding; IEA:UniProtKB-KW. # GO_function SC6A2_HUMAN GO 0005334 norepinephrine sodium symporter activity; TAS Reactome. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0007268 chemical synaptic transmission; TAS:ProtInc. # GO_process GO:0015844 monoamine transport; IDA:MGI. # GO_process GO:0015874 norepinephrine transport; IBA:GO_Central. # GO_process GO:0042493 response to drug; IEA:Ensembl. # GO_process GO:0048265 response to pain; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # Genevisible P23975 HS # HGNC HGNC:11048 SLC6A2 # InterPro IPR000175 Na/ntran_symport # InterPro IPR002435 Na/ntran_symport_noradrenaline # KEGG_Brite ko02001 Solute carrier family # KEGG_Brite ko04040 Ion channels # KEGG_Disease H01031 [Nervous system disease] Postural tachycardia syndrome (POTS) # MIM 163970 gene # MIM 604715 phenotype # MISCELLANEOUS SC6A2_HUMAN This protein is the target of psychomotor stimulants such as amphetamines or cocaine. # Organism SC6A2_HUMAN Homo sapiens (Human) # PANTHER PTHR11616 PTHR11616 # PIR S14278 S14278 # PRINTS PR00176 NANEUSMPORT # PRINTS PR01201 NORTRANSPORT # PROSITE PS00610 NA_NEUROTRAN_SYMP_1 # PROSITE PS00754 NA_NEUROTRAN_SYMP_2 # PROSITE PS50267 NA_NEUROTRAN_SYMP_3 # Pfam PF00209 SNF # Proteomes UP000005640 Chromosome 16 # Reactome R-HSA-442660 Na+/Cl- dependent neurotransmitter transporters # RecName SC6A2_HUMAN Sodium-dependent noradrenaline transporter # RefSeq NP_001034 NM_001043.3. [P23975-1] # RefSeq NP_001165972 NM_001172501.1. [P23975-1] # RefSeq NP_001165973 NM_001172502.1. [P23975-3] # RefSeq NP_001165975 NM_001172504.1. [P23975-2] # RefSeq XP_006721326 XM_006721263.2. [P23975-2] # RefSeq XP_011521597 XM_011523295.1. [P23975-2] # SIMILARITY Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A2 subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION SC6A2_HUMAN Cell membrane {ECO 0000269|PubMed 2008212}; Multi-pass membrane protein {ECO 0000250|UniProtKB Q7K4Y6}. # SUBUNIT Interacts with PRKCABP. {ECO:0000269|PubMed 11343649}. # TCDB 2.A.22.1:the neurotransmitter sodium symporter (nss) family # UCSC uc002eif human. [P23975-1] # eggNOG COG0733 LUCA # eggNOG KOG3659 Eukaryota BLAST swissprot:SC6A2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SC6A2_HUMAN BioCyc ZFISH:ENSG00000103546-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000103546-MONOMER COXPRESdb 6530 http://coxpresdb.jp/data/gene/6530.shtml CleanEx HS_NAT1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_NAT1 CleanEx HS_NET1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_NET1 CleanEx HS_SLC6A2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC6A2 CleanEx HS_SLC6A5 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC6A5 DOI 10.1006/bbrc.1995.2582 http://dx.doi.org/10.1006/bbrc.1995.2582 DOI 10.1016/S0896-6273(01)00267-7 http://dx.doi.org/10.1016/S0896-6273(01)00267-7 DOI 10.1038/350350a0 http://dx.doi.org/10.1038/350350a0 DOI 10.1038/nature03187 http://dx.doi.org/10.1038/nature03187 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1056/NEJM200002243420803 http://dx.doi.org/10.1056/NEJM200002243420803 DrugBank DB00182 http://www.drugbank.ca/drugs/DB00182 DrugBank DB00191 http://www.drugbank.ca/drugs/DB00191 DrugBank DB00193 http://www.drugbank.ca/drugs/DB00193 DrugBank DB00215 http://www.drugbank.ca/drugs/DB00215 DrugBank DB00226 http://www.drugbank.ca/drugs/DB00226 DrugBank DB00234 http://www.drugbank.ca/drugs/DB00234 DrugBank DB00285 http://www.drugbank.ca/drugs/DB00285 DrugBank DB00289 http://www.drugbank.ca/drugs/DB00289 DrugBank DB00321 http://www.drugbank.ca/drugs/DB00321 DrugBank DB00344 http://www.drugbank.ca/drugs/DB00344 DrugBank DB00368 http://www.drugbank.ca/drugs/DB00368 DrugBank DB00370 http://www.drugbank.ca/drugs/DB00370 DrugBank DB00408 http://www.drugbank.ca/drugs/DB00408 DrugBank DB00422 http://www.drugbank.ca/drugs/DB00422 DrugBank DB00454 http://www.drugbank.ca/drugs/DB00454 DrugBank DB00458 http://www.drugbank.ca/drugs/DB00458 DrugBank DB00476 http://www.drugbank.ca/drugs/DB00476 DrugBank DB00514 http://www.drugbank.ca/drugs/DB00514 DrugBank DB00540 http://www.drugbank.ca/drugs/DB00540 DrugBank DB00543 http://www.drugbank.ca/drugs/DB00543 DrugBank DB00579 http://www.drugbank.ca/drugs/DB00579 DrugBank DB00696 http://www.drugbank.ca/drugs/DB00696 DrugBank DB00715 http://www.drugbank.ca/drugs/DB00715 DrugBank DB00726 http://www.drugbank.ca/drugs/DB00726 DrugBank DB00830 http://www.drugbank.ca/drugs/DB00830 DrugBank DB00852 http://www.drugbank.ca/drugs/DB00852 DrugBank DB00907 http://www.drugbank.ca/drugs/DB00907 DrugBank DB00934 http://www.drugbank.ca/drugs/DB00934 DrugBank DB00937 http://www.drugbank.ca/drugs/DB00937 DrugBank DB00988 http://www.drugbank.ca/drugs/DB00988 DrugBank DB01105 http://www.drugbank.ca/drugs/DB01105 DrugBank DB01114 http://www.drugbank.ca/drugs/DB01114 DrugBank DB01142 http://www.drugbank.ca/drugs/DB01142 DrugBank DB01149 http://www.drugbank.ca/drugs/DB01149 DrugBank DB01151 http://www.drugbank.ca/drugs/DB01151 DrugBank DB01156 http://www.drugbank.ca/drugs/DB01156 DrugBank DB01170 http://www.drugbank.ca/drugs/DB01170 DrugBank DB01173 http://www.drugbank.ca/drugs/DB01173 DrugBank DB01175 http://www.drugbank.ca/drugs/DB01175 DrugBank DB01221 http://www.drugbank.ca/drugs/DB01221 DrugBank DB01242 http://www.drugbank.ca/drugs/DB01242 DrugBank DB01363 http://www.drugbank.ca/drugs/DB01363 DrugBank DB01364 http://www.drugbank.ca/drugs/DB01364 DrugBank DB01381 http://www.drugbank.ca/drugs/DB01381 DrugBank DB01576 http://www.drugbank.ca/drugs/DB01576 DrugBank DB01577 http://www.drugbank.ca/drugs/DB01577 DrugBank DB01579 http://www.drugbank.ca/drugs/DB01579 DrugBank DB04840 http://www.drugbank.ca/drugs/DB04840 DrugBank DB04896 http://www.drugbank.ca/drugs/DB04896 DrugBank DB06148 http://www.drugbank.ca/drugs/DB06148 DrugBank DB06204 http://www.drugbank.ca/drugs/DB06204 DrugBank DB06262 http://www.drugbank.ca/drugs/DB06262 DrugBank DB06700 http://www.drugbank.ca/drugs/DB06700 DrugBank DB06701 http://www.drugbank.ca/drugs/DB06701 DrugBank DB06704 http://www.drugbank.ca/drugs/DB06704 DrugBank DB06707 http://www.drugbank.ca/drugs/DB06707 DrugBank DB08918 http://www.drugbank.ca/drugs/DB08918 EMBL AC136621 http://www.ebi.ac.uk/ena/data/view/AC136621 EMBL AK301811 http://www.ebi.ac.uk/ena/data/view/AK301811 EMBL AK312793 http://www.ebi.ac.uk/ena/data/view/AK312793 EMBL CH471092 http://www.ebi.ac.uk/ena/data/view/CH471092 EMBL CH471092 http://www.ebi.ac.uk/ena/data/view/CH471092 EMBL CH471092 http://www.ebi.ac.uk/ena/data/view/CH471092 EMBL M65105 http://www.ebi.ac.uk/ena/data/view/M65105 EMBL X91117 http://www.ebi.ac.uk/ena/data/view/X91117 EMBL X91117 http://www.ebi.ac.uk/ena/data/view/X91117 EMBL X91118 http://www.ebi.ac.uk/ena/data/view/X91118 EMBL X91118 http://www.ebi.ac.uk/ena/data/view/X91118 EMBL X91119 http://www.ebi.ac.uk/ena/data/view/X91119 EMBL X91119 http://www.ebi.ac.uk/ena/data/view/X91119 EMBL X91120 http://www.ebi.ac.uk/ena/data/view/X91120 EMBL X91120 http://www.ebi.ac.uk/ena/data/view/X91120 EMBL X91121 http://www.ebi.ac.uk/ena/data/view/X91121 EMBL X91121 http://www.ebi.ac.uk/ena/data/view/X91121 EMBL X91122 http://www.ebi.ac.uk/ena/data/view/X91122 EMBL X91122 http://www.ebi.ac.uk/ena/data/view/X91122 EMBL X91123 http://www.ebi.ac.uk/ena/data/view/X91123 EMBL X91123 http://www.ebi.ac.uk/ena/data/view/X91123 EMBL X91124 http://www.ebi.ac.uk/ena/data/view/X91124 EMBL X91124 http://www.ebi.ac.uk/ena/data/view/X91124 EMBL X91125 http://www.ebi.ac.uk/ena/data/view/X91125 EMBL X91125 http://www.ebi.ac.uk/ena/data/view/X91125 EMBL X91126 http://www.ebi.ac.uk/ena/data/view/X91126 EMBL X91126 http://www.ebi.ac.uk/ena/data/view/X91126 EMBL X91127 http://www.ebi.ac.uk/ena/data/view/X91127 EMBL X91127 http://www.ebi.ac.uk/ena/data/view/X91127 Ensembl ENST00000219833 http://www.ensembl.org/id/ENST00000219833 Ensembl ENST00000379906 http://www.ensembl.org/id/ENST00000379906 Ensembl ENST00000567238 http://www.ensembl.org/id/ENST00000567238 Ensembl ENST00000568943 http://www.ensembl.org/id/ENST00000568943 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0009986 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009986 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0043005 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043005 GO_component GO:0045121 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045121 GO_function GO:0005334 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005334 GO_function GO:0008504 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008504 GO_function GO:0046872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046872 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0007268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007268 GO_process GO:0015844 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015844 GO_process GO:0015874 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015874 GO_process GO:0042493 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042493 GO_process GO:0048265 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048265 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GeneCards SLC6A2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC6A2 GeneID 6530 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6530 GeneTree ENSGT00760000118857 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118857 HGNC HGNC:11048 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11048 HOGENOM HOG000116406 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000116406&db=HOGENOM6 HOVERGEN HBG071421 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG071421&db=HOVERGEN InParanoid P23975 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P23975 InterPro IPR000175 http://www.ebi.ac.uk/interpro/entry/IPR000175 InterPro IPR002435 http://www.ebi.ac.uk/interpro/entry/IPR002435 Jabion 6530 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6530 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H01031 http://www.genome.jp/dbget-bin/www_bget?H01031 KEGG_Gene hsa:6530 http://www.genome.jp/dbget-bin/www_bget?hsa:6530 KEGG_Orthology KO:K05035 http://www.genome.jp/dbget-bin/www_bget?KO:K05035 MIM 163970 http://www.ncbi.nlm.nih.gov/omim/163970 MIM 604715 http://www.ncbi.nlm.nih.gov/omim/604715 MINT MINT-197872 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-197872 OMA PPWANWV http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=PPWANWV OrthoDB EOG091G08PX http://cegg.unige.ch/orthodb/results?searchtext=EOG091G08PX PANTHER PTHR11616 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11616 PRINTS PR00176 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00176 PRINTS PR01201 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01201 PROSITE PS00610 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00610 PROSITE PS00754 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00754 PROSITE PS50267 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50267 PSORT swissprot:SC6A2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SC6A2_HUMAN PSORT-B swissprot:SC6A2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SC6A2_HUMAN PSORT2 swissprot:SC6A2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SC6A2_HUMAN Pfam PF00209 http://pfam.xfam.org/family/PF00209 PharmGKB PA310 http://www.pharmgkb.org/do/serve?objId=PA310&objCls=Gene Phobius swissprot:SC6A2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SC6A2_HUMAN PhylomeDB P23975 http://phylomedb.org/?seqid=P23975 ProteinModelPortal P23975 http://www.proteinmodelportal.org/query/uniprot/P23975 PubMed 10684912 http://www.ncbi.nlm.nih.gov/pubmed/10684912 PubMed 11343649 http://www.ncbi.nlm.nih.gov/pubmed/11343649 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15616553 http://www.ncbi.nlm.nih.gov/pubmed/15616553 PubMed 2008212 http://www.ncbi.nlm.nih.gov/pubmed/2008212 PubMed 7488042 http://www.ncbi.nlm.nih.gov/pubmed/7488042 PubMed 9655936 http://www.ncbi.nlm.nih.gov/pubmed/9655936 Reactome R-HSA-442660 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-442660 RefSeq NP_001034 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001034 RefSeq NP_001165972 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001165972 RefSeq NP_001165973 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001165973 RefSeq NP_001165975 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001165975 RefSeq XP_006721326 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006721326 RefSeq XP_011521597 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011521597 STRING 9606.ENSP00000219833 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000219833&targetmode=cogs TCDB 2.A.22.1 http://www.tcdb.org/search/result.php?tc=2.A.22.1 UCSC uc002eif http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002eif&org=rat UniGene Hs.78036 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.78036 UniProtKB SC6A2_HUMAN http://www.uniprot.org/uniprot/SC6A2_HUMAN UniProtKB-AC P23975 http://www.uniprot.org/uniprot/P23975 charge swissprot:SC6A2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SC6A2_HUMAN eggNOG COG0733 http://eggnogapi.embl.de/nog_data/html/tree/COG0733 eggNOG KOG3659 http://eggnogapi.embl.de/nog_data/html/tree/KOG3659 epestfind swissprot:SC6A2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SC6A2_HUMAN garnier swissprot:SC6A2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SC6A2_HUMAN helixturnhelix swissprot:SC6A2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SC6A2_HUMAN hmoment swissprot:SC6A2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SC6A2_HUMAN iep swissprot:SC6A2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SC6A2_HUMAN inforesidue swissprot:SC6A2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SC6A2_HUMAN neXtProt NX_P23975 http://www.nextprot.org/db/entry/NX_P23975 octanol swissprot:SC6A2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SC6A2_HUMAN pepcoil swissprot:SC6A2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SC6A2_HUMAN pepdigest swissprot:SC6A2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SC6A2_HUMAN pepinfo swissprot:SC6A2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SC6A2_HUMAN pepnet swissprot:SC6A2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SC6A2_HUMAN pepstats swissprot:SC6A2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SC6A2_HUMAN pepwheel swissprot:SC6A2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SC6A2_HUMAN pepwindow swissprot:SC6A2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SC6A2_HUMAN sigcleave swissprot:SC6A2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SC6A2_HUMAN ## Database ID URL or Descriptions # AltName CTR1_HUMAN Ecotropic retroviral leukemia receptor homolog # AltName CTR1_HUMAN Ecotropic retrovirus receptor homolog # AltName CTR1_HUMAN Solute carrier family 7 member 1 # AltName CTR1_HUMAN System Y+ basic amino acid transporter # BioGrid 112432 59 # ChiTaRS SLC7A1 human # DrugBank DB00123 L-Lysine # DrugBank DB00125 L-Arginine # DrugBank DB00129 L-Ornithine # Ensembl ENST00000380752 ENSP00000370128; ENSG00000139514 # ExpressionAtlas P30825 baseline and differential # FUNCTION CTR1_HUMAN High-affinity, low capacity permease involved in the transport of the cationic amino acids (arginine, lysine and ornithine) in non-hepatic tissues. May also function as an ecotropic retroviral leukemia receptor. {ECO 0000269|PubMed 10485994}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_function GO:0000064 L-ornithine transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015171 amino acid transmembrane transporter activity; TAS:Reactome. # GO_function GO:0015181 arginine transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015189 L-lysine transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015297 antiporter activity; IBA:GO_Central. # GO_process GO:0006810 transport; NAS:ProtInc. # GO_process GO:0006865 amino acid transport; TAS:Reactome. # GO_process GO:0015809 arginine transport; IEA:Ensembl. # GO_process GO:1903352 L-ornithine transmembrane transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0055085 transmembrane transport # Genevisible P30825 HS # HGNC HGNC:11057 SLC7A1 # INTERACTION CTR1_HUMAN Q969F0 FATE1; NbExp=5; IntAct=EBI-4289564, EBI-743099; # IntAct P30825 6 # InterPro IPR002293 AA/rel_permease1 # InterPro IPR004755 Cat_AA_permease # InterPro IPR029485 CAT_C # KEGG_Brite ko02001 Solute carrier family # MIM 104615 gene # Organism CTR1_HUMAN Homo sapiens (Human) # PANTHER PTHR11785 PTHR11785; 3 # PIR S29685 S29685 # Pfam PF13520 AA_permease_2 # Pfam PF13906 AA_permease_C # Proteomes UP000005640 Chromosome 13 # Reactome R-HSA-352230 Amino acid transport across the plasma membrane # RecName CTR1_HUMAN High affinity cationic amino acid transporter 1 # RefSeq NP_003036 NM_003045.4 # RefSeq XP_005266564 XM_005266507.3 # RefSeq XP_016876205 XM_017020716.1 # SIMILARITY Belongs to the amino acid-polyamine-organocation (APC) superfamily. Cationic amino acid transporter (CAT) (TC 2.A.3.3) family. {ECO 0000305}. # SUBCELLULAR LOCATION CTR1_HUMAN Cell membrane {ECO 0000269|PubMed 10485994}; Multi-pass membrane protein {ECO 0000303|PubMed 10485994}. # TCDB 2.A.3.3 the amino acid-polyamine-organocation (apc) family # TIGRFAMs TIGR00906 2A0303 # TISSUE SPECIFICITY Ubiquitous. {ECO:0000269|PubMed 1718082}. # UCSC uc001uso human # eggNOG COG0531 LUCA # eggNOG KOG1286 Eukaryota BLAST swissprot:CTR1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CTR1_HUMAN BioCyc ZFISH:ENSG00000139514-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000139514-MONOMER COXPRESdb 6541 http://coxpresdb.jp/data/gene/6541.shtml CleanEx HS_SLC7A1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC7A1 DOI 10.1007/s002329900558 http://dx.doi.org/10.1007/s002329900558 DOI 10.1016/0042-6822(91)90748-Z http://dx.doi.org/10.1016/0042-6822(91)90748-Z DOI 10.1016/0888-7543(92)90431-Q http://dx.doi.org/10.1016/0888-7543(92)90431-Q DOI 10.1038/nature02379 http://dx.doi.org/10.1038/nature02379 DOI 10.1038/nbt.1532 http://dx.doi.org/10.1038/nbt.1532 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DrugBank DB00123 http://www.drugbank.ca/drugs/DB00123 DrugBank DB00125 http://www.drugbank.ca/drugs/DB00125 DrugBank DB00129 http://www.drugbank.ca/drugs/DB00129 EMBL AF078107 http://www.ebi.ac.uk/ena/data/view/AF078107 EMBL AL596114 http://www.ebi.ac.uk/ena/data/view/AL596114 EMBL BC063303 http://www.ebi.ac.uk/ena/data/view/BC063303 EMBL BC069358 http://www.ebi.ac.uk/ena/data/view/BC069358 EMBL BC115407 http://www.ebi.ac.uk/ena/data/view/BC115407 EMBL X57303 http://www.ebi.ac.uk/ena/data/view/X57303 EMBL X59155 http://www.ebi.ac.uk/ena/data/view/X59155 Ensembl ENST00000380752 http://www.ensembl.org/id/ENST00000380752 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_function GO:0000064 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000064 GO_function GO:0015171 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015171 GO_function GO:0015181 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015181 GO_function GO:0015189 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015189 GO_function GO:0015297 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015297 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0006865 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006865 GO_process GO:0015809 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015809 GO_process GO:1903352 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903352 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC7A1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC7A1 GeneID 6541 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6541 GeneTree ENSGT00760000119151 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119151 HGNC HGNC:11057 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11057 HOGENOM HOG000250623 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000250623&db=HOGENOM6 HOVERGEN HBG000280 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG000280&db=HOVERGEN HPA HPA039721 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA039721 InParanoid P30825 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P30825 IntAct P30825 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P30825* InterPro IPR002293 http://www.ebi.ac.uk/interpro/entry/IPR002293 InterPro IPR004755 http://www.ebi.ac.uk/interpro/entry/IPR004755 InterPro IPR029485 http://www.ebi.ac.uk/interpro/entry/IPR029485 Jabion 6541 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6541 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:6541 http://www.genome.jp/dbget-bin/www_bget?hsa:6541 KEGG_Orthology KO:K13863 http://www.genome.jp/dbget-bin/www_bget?KO:K13863 MIM 104615 http://www.ncbi.nlm.nih.gov/omim/104615 MINT MINT-3012079 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-3012079 OMA LAMIICP http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=LAMIICP OrthoDB EOG091G05NM http://cegg.unige.ch/orthodb/results?searchtext=EOG091G05NM PANTHER PTHR11785 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11785 PSORT swissprot:CTR1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CTR1_HUMAN PSORT-B swissprot:CTR1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CTR1_HUMAN PSORT2 swissprot:CTR1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CTR1_HUMAN Pfam PF13520 http://pfam.xfam.org/family/PF13520 Pfam PF13906 http://pfam.xfam.org/family/PF13906 PharmGKB PA35917 http://www.pharmgkb.org/do/serve?objId=PA35917&objCls=Gene Phobius swissprot:CTR1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CTR1_HUMAN PhylomeDB P30825 http://phylomedb.org/?seqid=P30825 ProteinModelPortal P30825 http://www.proteinmodelportal.org/query/uniprot/P30825 PubMed 10485994 http://www.ncbi.nlm.nih.gov/pubmed/10485994 PubMed 1348489 http://www.ncbi.nlm.nih.gov/pubmed/1348489 PubMed 15057823 http://www.ncbi.nlm.nih.gov/pubmed/15057823 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 1718082 http://www.ncbi.nlm.nih.gov/pubmed/1718082 PubMed 19349973 http://www.ncbi.nlm.nih.gov/pubmed/19349973 Reactome R-HSA-352230 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-352230 RefSeq NP_003036 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_003036 RefSeq XP_005266564 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005266564 RefSeq XP_016876205 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016876205 STRING 9606.ENSP00000370128 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000370128&targetmode=cogs TCDB 2.A.3.3 http://www.tcdb.org/search/result.php?tc=2.A.3.3 TIGRFAMs TIGR00906 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00906 UCSC uc001uso http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001uso&org=rat UniGene Hs.14846 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.14846 UniProtKB CTR1_HUMAN http://www.uniprot.org/uniprot/CTR1_HUMAN UniProtKB-AC P30825 http://www.uniprot.org/uniprot/P30825 charge swissprot:CTR1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CTR1_HUMAN eggNOG COG0531 http://eggnogapi.embl.de/nog_data/html/tree/COG0531 eggNOG KOG1286 http://eggnogapi.embl.de/nog_data/html/tree/KOG1286 epestfind swissprot:CTR1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CTR1_HUMAN garnier swissprot:CTR1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CTR1_HUMAN helixturnhelix swissprot:CTR1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CTR1_HUMAN hmoment swissprot:CTR1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CTR1_HUMAN iep swissprot:CTR1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CTR1_HUMAN inforesidue swissprot:CTR1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CTR1_HUMAN neXtProt NX_P30825 http://www.nextprot.org/db/entry/NX_P30825 octanol swissprot:CTR1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CTR1_HUMAN pepcoil swissprot:CTR1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CTR1_HUMAN pepdigest swissprot:CTR1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CTR1_HUMAN pepinfo swissprot:CTR1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CTR1_HUMAN pepnet swissprot:CTR1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CTR1_HUMAN pepstats swissprot:CTR1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CTR1_HUMAN pepwheel swissprot:CTR1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CTR1_HUMAN pepwindow swissprot:CTR1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CTR1_HUMAN sigcleave swissprot:CTR1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CTR1_HUMAN ## Database ID URL or Descriptions # AltName S35A5_HUMAN Solute carrier family 35 member A5 # BioGrid 120361 8 # ChiTaRS SLC35A5 human # Ensembl ENST00000492406 ENSP00000417654; ENSG00000138459 # ExpressionAtlas Q9BS91 baseline and differential # GO_component GO:0000139 Golgi membrane; IEA:InterPro. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function S35A5_HUMAN GO 0005351 sugar proton symporter activity; IEA InterPro. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # Genevisible Q9BS91 HS # HGNC HGNC:20792 SLC35A5 # InterPro IPR007271 Nuc_sug_transpt # KEGG_Brite ko02001 Solute carrier family # Organism S35A5_HUMAN Homo sapiens (Human) # PANTHER PTHR10231 PTHR10231; 2 # PIRSF PIRSF005799 UDP-gal_transpt # Pfam PF04142 Nuc_sug_transp # Proteomes UP000005640 Chromosome 3 # RecName S35A5_HUMAN Probable UDP-sugar transporter protein SLC35A5 # RefSeq NP_060415 NM_017945.3 # RefSeq XP_011511250 XM_011512948.1 # SEQUENCE CAUTION Sequence=BAD18792.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the nucleotide-sugar transporter family. SLC35A subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION S35A5_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # TCDB 2.A.7.12.14 the drug/metabolite transporter (dmt) superfamily # UCSC uc003dze human # eggNOG COG0697 LUCA # eggNOG KOG2234 Eukaryota BLAST swissprot:S35A5_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S35A5_HUMAN COXPRESdb 55032 http://coxpresdb.jp/data/gene/55032.shtml CleanEx HS_SLC35A5 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC35A5 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1101/gr.1293003 http://dx.doi.org/10.1101/gr.1293003 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 EMBL AK000737 http://www.ebi.ac.uk/ena/data/view/AK000737 EMBL AK172825 http://www.ebi.ac.uk/ena/data/view/AK172825 EMBL AL117531 http://www.ebi.ac.uk/ena/data/view/AL117531 EMBL AY358994 http://www.ebi.ac.uk/ena/data/view/AY358994 EMBL BC005207 http://www.ebi.ac.uk/ena/data/view/BC005207 EMBL BC010307 http://www.ebi.ac.uk/ena/data/view/BC010307 EMBL BC013046 http://www.ebi.ac.uk/ena/data/view/BC013046 EMBL CH471052 http://www.ebi.ac.uk/ena/data/view/CH471052 EMBL CH471052 http://www.ebi.ac.uk/ena/data/view/CH471052 Ensembl ENST00000492406 http://www.ensembl.org/id/ENST00000492406 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000139 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005351 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005351 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GeneCards SLC35A5 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC35A5 GeneID 55032 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=55032 GeneTree ENSGT00550000074563 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074563 HGNC HGNC:20792 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:20792 HOGENOM HOG000154236 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000154236&db=HOGENOM6 HOVERGEN HBG056977 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG056977&db=HOVERGEN HPA HPA035519 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA035519 HPA HPA057964 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA057964 InParanoid Q9BS91 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9BS91 InterPro IPR007271 http://www.ebi.ac.uk/interpro/entry/IPR007271 Jabion 55032 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=55032 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:55032 http://www.genome.jp/dbget-bin/www_bget?hsa:55032 KEGG_Orthology KO:K15274 http://www.genome.jp/dbget-bin/www_bget?KO:K15274 OMA LFRSECP http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=LFRSECP OrthoDB EOG091G08HH http://cegg.unige.ch/orthodb/results?searchtext=EOG091G08HH PANTHER PTHR10231 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10231 PSORT swissprot:S35A5_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S35A5_HUMAN PSORT-B swissprot:S35A5_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S35A5_HUMAN PSORT2 swissprot:S35A5_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S35A5_HUMAN Pfam PF04142 http://pfam.xfam.org/family/PF04142 PharmGKB PA134947136 http://www.pharmgkb.org/do/serve?objId=PA134947136&objCls=Gene Phobius swissprot:S35A5_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S35A5_HUMAN PhylomeDB Q9BS91 http://phylomedb.org/?seqid=Q9BS91 ProteinModelPortal Q9BS91 http://www.proteinmodelportal.org/query/uniprot/Q9BS91 PubMed 12975309 http://www.ncbi.nlm.nih.gov/pubmed/12975309 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 RefSeq NP_060415 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_060415 RefSeq XP_011511250 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011511250 STRING 9606.ENSP00000417654 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000417654&targetmode=cogs TCDB 2.A.7.12.14 http://www.tcdb.org/search/result.php?tc=2.A.7.12.14 UCSC uc003dze http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003dze&org=rat UniGene Hs.237480 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.237480 UniProtKB S35A5_HUMAN http://www.uniprot.org/uniprot/S35A5_HUMAN UniProtKB-AC Q9BS91 http://www.uniprot.org/uniprot/Q9BS91 charge swissprot:S35A5_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S35A5_HUMAN eggNOG COG0697 http://eggnogapi.embl.de/nog_data/html/tree/COG0697 eggNOG KOG2234 http://eggnogapi.embl.de/nog_data/html/tree/KOG2234 epestfind swissprot:S35A5_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S35A5_HUMAN garnier swissprot:S35A5_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S35A5_HUMAN helixturnhelix swissprot:S35A5_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S35A5_HUMAN hmoment swissprot:S35A5_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S35A5_HUMAN iep swissprot:S35A5_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S35A5_HUMAN inforesidue swissprot:S35A5_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S35A5_HUMAN neXtProt NX_Q9BS91 http://www.nextprot.org/db/entry/NX_Q9BS91 octanol swissprot:S35A5_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S35A5_HUMAN pepcoil swissprot:S35A5_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S35A5_HUMAN pepdigest swissprot:S35A5_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S35A5_HUMAN pepinfo swissprot:S35A5_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S35A5_HUMAN pepnet swissprot:S35A5_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S35A5_HUMAN pepstats swissprot:S35A5_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S35A5_HUMAN pepwheel swissprot:S35A5_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S35A5_HUMAN pepwindow swissprot:S35A5_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S35A5_HUMAN sigcleave swissprot:S35A5_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S35A5_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS KCNJ1_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; Synonyms=ROM-K1; IsoId=P48048-1; Sequence=Displayed; Name=2; Synonyms=2-4-5, ROM-K2, ROM-K4, ROM-K5, ROM-K6; IsoId=P48048-2; Sequence=VSP_002797; Name=3; Synonyms=ROM-K3; IsoId=P48048-3; Sequence=VSP_002798; # AltName KCNJ1_HUMAN ATP-regulated potassium channel ROM-K # AltName KCNJ1_HUMAN Inward rectifier K(+) channel Kir1.1 # AltName KCNJ1_HUMAN Potassium channel, inwardly rectifying subfamily J member 1 # BioGrid 109960 4 # CCDS CCDS8476 -. [P48048-1] # CCDS CCDS8477 -. [P48048-2] # DISEASE KCNJ1_HUMAN Bartter syndrome 2, antenatal (BARTS2) [MIM 241200] A form of Bartter syndrome, an autosomal recessive disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. BARTS2 is a life-threatening condition beginning in utero, with marked fetal polyuria that leads to polyhydramnios and premature delivery. Another hallmark is a marked hypercalciuria and, as a secondary consequence, the development of nephrocalcinosis and osteopenia. {ECO 0000269|PubMed 8841184, ECO 0000269|PubMed 9002665, ECO 0000269|PubMed 9727001}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DrugBank DB00217 Bethanidine # DrugBank DB00222 Glimepiride # DrugBank DB00350 Minoxidil # DrugBank DB00839 Tolazamide # DrugBank DB01016 Glyburide # DrugBank DB01124 Tolbutamide # DrugBank DB01382 Glycodiazine # DrugBank DB01392 Yohimbine # ENZYME REGULATION Inhibited by WNK3. {ECO:0000269|PubMed 16357011}. # Ensembl ENST00000324036 ENSP00000316233; ENSG00000151704. [P48048-2] # Ensembl ENST00000392664 ENSP00000376432; ENSG00000151704. [P48048-1] # Ensembl ENST00000392665 ENSP00000376433; ENSG00000151704. [P48048-2] # Ensembl ENST00000392666 ENSP00000376434; ENSG00000151704. [P48048-2] # Ensembl ENST00000440599 ENSP00000406320; ENSG00000151704. [P48048-2] # ExpressionAtlas P48048 baseline and differential # FUNCTION KCNJ1_HUMAN In the kidney, probably plays a major role in potassium homeostasis. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. This channel is activated by internal ATP and can be blocked by external barium. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0008076 voltage-gated potassium channel complex; TAS:ProtInc. # GO_function GO:0005242 inward rectifier potassium channel activity; TAS:Reactome. # GO_function GO:0005524 ATP binding; IEA:UniProtKB-KW. # GO_function GO:0005546 phosphatidylinositol-4,5-bisphosphate binding; IDA:BHF-UCL. # GO_function GO:0015272 ATP-activated inward rectifier potassium channel activity; IBA:GO_Central. # GO_process GO:0006813 potassium ion transport; TAS:ProtInc. # GO_process GO:0007588 excretion; TAS:ProtInc. # GO_process GO:0010107 potassium ion import; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0008289 lipid binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0055085 transmembrane transport # Gene3D 2.60.40.1400 -; 1. # Genevisible P48048 HS # HGNC HGNC:6255 KCNJ1 # InterPro IPR003268 K_chnl_inward-rec_Kir1.1 # InterPro IPR013518 K_chnl_inward-rec_Kir_cyto # InterPro IPR014756 Ig_E-set # InterPro IPR016449 K_chnl_inward-rec_Kir # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00239 [Endocrine disease; Urinary system disease] Bartter syndrome # KEGG_Pathway ko04960 Aldosterone-regulated sodium reabsorption # KEGG_Pathway ko04971 Gastric acid secretion # MIM 241200 phenotype # MIM 600359 gene # Organism KCNJ1_HUMAN Homo sapiens (Human) # Orphanet 93604 Antenatal Bartter syndrome # PANTHER PTHR11767 PTHR11767 # PANTHER PTHR11767:SF6 PTHR11767:SF6 # PIR A55119 A55119 # PIRSF PIRSF005465 GIRK_kir # PRINTS PR01320 KIRCHANNEL # PRINTS PR01321 KIR11CHANNEL # PTM KCNJ1_HUMAN Phosphorylation at Ser-44 by SGK1 is necessary for its expression at the cell membrane. {ECO 0000269|PubMed 12684516}. # Pfam PF01007 IRK # Proteomes UP000005640 Chromosome 11 # Reactome R-HSA-1296067 Potassium transport channels # RecName KCNJ1_HUMAN ATP-sensitive inward rectifier potassium channel 1 # RefSeq NP_000211 NM_000220.4. [P48048-1] # RefSeq NP_722448 NM_153764.2. [P48048-2] # RefSeq NP_722449 NM_153765.2. [P48048-3] # RefSeq NP_722450 NM_153766.2. [P48048-2] # RefSeq NP_722451 NM_153767.3. [P48048-2] # SIMILARITY Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ1 subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION KCNJ1_HUMAN Cell membrane {ECO 0000269|PubMed 12684516}; Multi-pass membrane protein {ECO 0000269|PubMed 12684516}. Note=Phosphorylation at Ser-44 by SGK1 is necessary for its expression at the cell membrane. # SUBUNIT Interacts with SGK1 and SLC9A3R2/NHERF2. {ECO:0000269|PubMed 14623317}. # SUPFAM SSF81296 SSF81296 # TCDB 1.A.2.1 inward rectifier k(+) channel (irk-c) family # TISSUE SPECIFICITY In the kidney and pancreatic islets. Lower levels in skeletal muscle, pancreas, spleen, brain, heart and liver. {ECO:0000269|PubMed 7635463}. # UCSC uc001qeo human. [P48048-1] # eggNOG ENOG410XQ62 LUCA # eggNOG KOG3827 Eukaryota BLAST swissprot:KCNJ1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCNJ1_HUMAN BioCyc ZFISH:ENSG00000151704-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000151704-MONOMER COXPRESdb 3758 http://coxpresdb.jp/data/gene/3758.shtml CleanEx HS_KCNJ1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNJ1 DOI 10.1007/BF00207372 http://dx.doi.org/10.1007/BF00207372 DOI 10.1016/S0378-1119(96)00759-7 http://dx.doi.org/10.1016/S0378-1119(96)00759-7 DOI 10.1016/j.bbrc.2003.10.037 http://dx.doi.org/10.1016/j.bbrc.2003.10.037 DOI 10.1038/ng1096-152 http://dx.doi.org/10.1038/ng1096-152 DOI 10.1074/jbc.273.37.23884 http://dx.doi.org/10.1074/jbc.273.37.23884 DOI 10.1074/jbc.M005338200 http://dx.doi.org/10.1074/jbc.M005338200 DOI 10.1074/jbc.M212301200 http://dx.doi.org/10.1074/jbc.M212301200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1113/jphysiol.2005.102202 http://dx.doi.org/10.1113/jphysiol.2005.102202 DOI 10.1126/science.1133427 http://dx.doi.org/10.1126/science.1133427 DrugBank DB00217 http://www.drugbank.ca/drugs/DB00217 DrugBank DB00222 http://www.drugbank.ca/drugs/DB00222 DrugBank DB00350 http://www.drugbank.ca/drugs/DB00350 DrugBank DB00839 http://www.drugbank.ca/drugs/DB00839 DrugBank DB01016 http://www.drugbank.ca/drugs/DB01016 DrugBank DB01124 http://www.drugbank.ca/drugs/DB01124 DrugBank DB01382 http://www.drugbank.ca/drugs/DB01382 DrugBank DB01392 http://www.drugbank.ca/drugs/DB01392 EMBL BC074752 http://www.ebi.ac.uk/ena/data/view/BC074752 EMBL BC136360 http://www.ebi.ac.uk/ena/data/view/BC136360 EMBL BC136361 http://www.ebi.ac.uk/ena/data/view/BC136361 EMBL CH471065 http://www.ebi.ac.uk/ena/data/view/CH471065 EMBL S78737 http://www.ebi.ac.uk/ena/data/view/S78737 EMBL U03884 http://www.ebi.ac.uk/ena/data/view/U03884 EMBL U12541 http://www.ebi.ac.uk/ena/data/view/U12541 EMBL U12542 http://www.ebi.ac.uk/ena/data/view/U12542 EMBL U12543 http://www.ebi.ac.uk/ena/data/view/U12543 EMBL U12544 http://www.ebi.ac.uk/ena/data/view/U12544 EMBL U12545 http://www.ebi.ac.uk/ena/data/view/U12545 EMBL U65406 http://www.ebi.ac.uk/ena/data/view/U65406 EMBL U65406 http://www.ebi.ac.uk/ena/data/view/U65406 EMBL U65406 http://www.ebi.ac.uk/ena/data/view/U65406 Ensembl ENST00000324036 http://www.ensembl.org/id/ENST00000324036 Ensembl ENST00000392664 http://www.ensembl.org/id/ENST00000392664 Ensembl ENST00000392665 http://www.ensembl.org/id/ENST00000392665 Ensembl ENST00000392666 http://www.ensembl.org/id/ENST00000392666 Ensembl ENST00000440599 http://www.ensembl.org/id/ENST00000440599 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0008076 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008076 GO_function GO:0005242 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005242 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0005546 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005546 GO_function GO:0015272 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015272 GO_process GO:0006813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006813 GO_process GO:0007588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007588 GO_process GO:0010107 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010107 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0008289 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008289 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 2.60.40.1400 http://www.cathdb.info/version/latest/superfamily/2.60.40.1400 GeneCards KCNJ1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNJ1 GeneID 3758 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=3758 GeneTree ENSGT00760000118842 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118842 HGNC HGNC:6255 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6255 HOGENOM HOG000237326 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000237326&db=HOGENOM6 HOVERGEN HBG006178 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG006178&db=HOVERGEN HPA HPA026962 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA026962 InParanoid P48048 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P48048 InterPro IPR003268 http://www.ebi.ac.uk/interpro/entry/IPR003268 InterPro IPR013518 http://www.ebi.ac.uk/interpro/entry/IPR013518 InterPro IPR014756 http://www.ebi.ac.uk/interpro/entry/IPR014756 InterPro IPR016449 http://www.ebi.ac.uk/interpro/entry/IPR016449 Jabion 3758 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=3758 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00239 http://www.genome.jp/dbget-bin/www_bget?H00239 KEGG_Gene hsa:3758 http://www.genome.jp/dbget-bin/www_bget?hsa:3758 KEGG_Orthology KO:K04995 http://www.genome.jp/dbget-bin/www_bget?KO:K04995 KEGG_Pathway ko04960 http://www.genome.jp/kegg-bin/show_pathway?ko04960 KEGG_Pathway ko04971 http://www.genome.jp/kegg-bin/show_pathway?ko04971 MIM 241200 http://www.ncbi.nlm.nih.gov/omim/241200 MIM 600359 http://www.ncbi.nlm.nih.gov/omim/600359 MINT MINT-90062 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-90062 OMA WYAVAYI http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=WYAVAYI Orphanet 93604 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=93604 OrthoDB EOG091G08HC http://cegg.unige.ch/orthodb/results?searchtext=EOG091G08HC PANTHER PTHR11767 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11767 PANTHER PTHR11767:SF6 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11767:SF6 PRINTS PR01320 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01320 PRINTS PR01321 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01321 PSORT swissprot:KCNJ1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCNJ1_HUMAN PSORT-B swissprot:KCNJ1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCNJ1_HUMAN PSORT2 swissprot:KCNJ1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCNJ1_HUMAN Pfam PF01007 http://pfam.xfam.org/family/PF01007 PharmGKB PA213 http://www.pharmgkb.org/do/serve?objId=PA213&objCls=Gene Phobius swissprot:KCNJ1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCNJ1_HUMAN PhylomeDB P48048 http://phylomedb.org/?seqid=P48048 ProteinModelPortal P48048 http://www.proteinmodelportal.org/query/uniprot/P48048 PubMed 10889209 http://www.ncbi.nlm.nih.gov/pubmed/10889209 PubMed 12684516 http://www.ncbi.nlm.nih.gov/pubmed/12684516 PubMed 14623317 http://www.ncbi.nlm.nih.gov/pubmed/14623317 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16357011 http://www.ncbi.nlm.nih.gov/pubmed/16357011 PubMed 16959974 http://www.ncbi.nlm.nih.gov/pubmed/16959974 PubMed 7635463 http://www.ncbi.nlm.nih.gov/pubmed/7635463 PubMed 7929082 http://www.ncbi.nlm.nih.gov/pubmed/7929082 PubMed 8190102 http://www.ncbi.nlm.nih.gov/pubmed/8190102 PubMed 8841184 http://www.ncbi.nlm.nih.gov/pubmed/8841184 PubMed 9002665 http://www.ncbi.nlm.nih.gov/pubmed/9002665 PubMed 9099852 http://www.ncbi.nlm.nih.gov/pubmed/9099852 PubMed 9727001 http://www.ncbi.nlm.nih.gov/pubmed/9727001 Reactome R-HSA-1296067 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1296067 RefSeq NP_000211 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000211 RefSeq NP_722448 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_722448 RefSeq NP_722449 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_722449 RefSeq NP_722450 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_722450 RefSeq NP_722451 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_722451 SMR P48048 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P48048 STRING 9606.ENSP00000376432 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000376432&targetmode=cogs SUPFAM SSF81296 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81296 TCDB 1.A.2.1 http://www.tcdb.org/search/result.php?tc=1.A.2.1 UCSC uc001qeo http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001qeo&org=rat UniGene Hs.527830 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.527830 UniProtKB KCNJ1_HUMAN http://www.uniprot.org/uniprot/KCNJ1_HUMAN UniProtKB-AC P48048 http://www.uniprot.org/uniprot/P48048 charge swissprot:KCNJ1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCNJ1_HUMAN eggNOG ENOG410XQ62 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XQ62 eggNOG KOG3827 http://eggnogapi.embl.de/nog_data/html/tree/KOG3827 epestfind swissprot:KCNJ1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCNJ1_HUMAN garnier swissprot:KCNJ1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCNJ1_HUMAN helixturnhelix swissprot:KCNJ1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCNJ1_HUMAN hmoment swissprot:KCNJ1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCNJ1_HUMAN iep swissprot:KCNJ1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCNJ1_HUMAN inforesidue swissprot:KCNJ1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCNJ1_HUMAN neXtProt NX_P48048 http://www.nextprot.org/db/entry/NX_P48048 octanol swissprot:KCNJ1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCNJ1_HUMAN pepcoil swissprot:KCNJ1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCNJ1_HUMAN pepdigest swissprot:KCNJ1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCNJ1_HUMAN pepinfo swissprot:KCNJ1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCNJ1_HUMAN pepnet swissprot:KCNJ1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCNJ1_HUMAN pepstats swissprot:KCNJ1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCNJ1_HUMAN pepwheel swissprot:KCNJ1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCNJ1_HUMAN pepwindow swissprot:KCNJ1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCNJ1_HUMAN sigcleave swissprot:KCNJ1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCNJ1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS NPT3_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=O00624-1; Sequence=Displayed; Name=2; IsoId=O00624-2; Sequence=VSP_020638; Name=3; IsoId=O00624-3; Sequence=VSP_054712; Note=No experimental confirmation available.; # AltName NPT3_HUMAN Na(+)/PI cotransporter 3 # AltName NPT3_HUMAN Sodium/phosphate cotransporter 3 # AltName NPT3_HUMAN Solute carrier family 17 member 2 # BioGrid 115540 51 # CCDS CCDS4567 -. [O00624-2] # CCDS CCDS69060 -. [O00624-3] # CDD cd06174 MFS # Ensembl ENST00000265425 ENSP00000265425; ENSG00000112337. [O00624-1] # Ensembl ENST00000360488 ENSP00000353677; ENSG00000112337. [O00624-2] # Ensembl ENST00000377850 ENSP00000367081; ENSG00000112337. [O00624-3] # ExpressionAtlas O00624 baseline and differential # FUNCTION NPT3_HUMAN May be involved in actively transporting phosphate into cells via Na(+) cotransport. {ECO 0000250}. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0016020 membrane; TAS:ProtInc. # GO_function GO:0015321 sodium-dependent phosphate transmembrane transporter activity; IBA:GO_Central. # GO_function NPT3_HUMAN GO 0005436 sodium phosphate symporter activity; TAS ProtInc. # GO_process GO:0006796 phosphate-containing compound metabolic process; TAS:ProtInc. # GO_process GO:0006814 sodium ion transport; TAS:ProtInc. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # Genevisible O00624 HS # HGNC HGNC:10930 SLC17A2 # InterPro IPR011701 MFS # InterPro IPR020846 MFS_dom # KEGG_Brite ko02000 Transporters # KEGG_Brite ko02001 Solute carrier family # MIM 611049 gene # Organism NPT3_HUMAN Homo sapiens (Human) # PROSITE PS50850 MFS # Pfam PF07690 MFS_1 # Proteomes UP000005640 Chromosome 6 # RecName NPT3_HUMAN Sodium-dependent phosphate transport protein 3 # RefSeq NP_001273052 NM_001286123.1. [O00624-3] # RefSeq NP_001273054 NM_001286125.1 # RefSeq NP_005826 NM_005835.3. [O00624-2] # RefSeq XP_005248841 XM_005248784.2. [O00624-3] # RefSeq XP_006715012 XM_006714949.3. [O00624-3] # SIMILARITY Belongs to the major facilitator superfamily. Sodium/anion cotransporter family. {ECO 0000305}. # SUBCELLULAR LOCATION NPT3_HUMAN Membrane; Multi-pass membrane protein. # SUPFAM SSF103473 SSF103473; 2 # TCDB 2.A.1.14.29 the major facilitator superfamily (mfs) # TISSUE SPECIFICITY Expressed in the small intestine, kidney, spleen and testis. Not detected in fetal brain, bone marrow, and mammary gland. {ECO:0000269|PubMed 9149941}. # UCSC uc003nfl human. [O00624-1] # eggNOG ENOG410XPWC LUCA # eggNOG KOG2532 Eukaryota BLAST swissprot:NPT3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:NPT3_HUMAN BioCyc ZFISH:ENSG00000112337-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000112337-MONOMER COXPRESdb 10246 http://coxpresdb.jp/data/gene/10246.shtml CleanEx HS_SLC17A2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC17A2 DOI 10.1038/nature02055 http://dx.doi.org/10.1038/nature02055 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AL138726 http://www.ebi.ac.uk/ena/data/view/AL138726 EMBL AL138726 http://www.ebi.ac.uk/ena/data/view/AL138726 EMBL BC104822 http://www.ebi.ac.uk/ena/data/view/BC104822 EMBL BC112033 http://www.ebi.ac.uk/ena/data/view/BC112033 EMBL BC143323 http://www.ebi.ac.uk/ena/data/view/BC143323 EMBL CH471087 http://www.ebi.ac.uk/ena/data/view/CH471087 EMBL CH471087 http://www.ebi.ac.uk/ena/data/view/CH471087 EMBL U90544 http://www.ebi.ac.uk/ena/data/view/U90544 EMBL U91328 http://www.ebi.ac.uk/ena/data/view/U91328 Ensembl ENST00000265425 http://www.ensembl.org/id/ENST00000265425 Ensembl ENST00000360488 http://www.ensembl.org/id/ENST00000360488 Ensembl ENST00000377850 http://www.ensembl.org/id/ENST00000377850 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_function GO:0005436 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005436 GO_function GO:0015321 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015321 GO_process GO:0006796 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006796 GO_process GO:0006814 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006814 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GeneCards SLC17A2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC17A2 GeneID 10246 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=10246 GeneTree ENSGT00760000119079 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119079 H-InvDB HIX0122218 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0122218 HGNC HGNC:10930 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10930 HOGENOM HOG000230813 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000230813&db=HOGENOM6 HOVERGEN HBG008834 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG008834&db=HOVERGEN HPA HPA038270 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA038270 InParanoid O00624 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O00624 InterPro IPR011701 http://www.ebi.ac.uk/interpro/entry/IPR011701 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 10246 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=10246 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:10246 http://www.genome.jp/dbget-bin/www_bget?hsa:10246 KEGG_Orthology KO:K12300 http://www.genome.jp/dbget-bin/www_bget?KO:K12300 MIM 611049 http://www.ncbi.nlm.nih.gov/omim/611049 OMA FYIFGST http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=FYIFGST OrthoDB EOG091G080B http://cegg.unige.ch/orthodb/results?searchtext=EOG091G080B PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PSORT swissprot:NPT3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:NPT3_HUMAN PSORT-B swissprot:NPT3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:NPT3_HUMAN PSORT2 swissprot:NPT3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:NPT3_HUMAN Pfam PF07690 http://pfam.xfam.org/family/PF07690 PharmGKB PA35821 http://www.pharmgkb.org/do/serve?objId=PA35821&objCls=Gene Phobius swissprot:NPT3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:NPT3_HUMAN PhylomeDB O00624 http://phylomedb.org/?seqid=O00624 ProteinModelPortal O00624 http://www.proteinmodelportal.org/query/uniprot/O00624 PubMed 14574404 http://www.ncbi.nlm.nih.gov/pubmed/14574404 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 9149941 http://www.ncbi.nlm.nih.gov/pubmed/9149941 RefSeq NP_001273052 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001273052 RefSeq NP_001273054 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001273054 RefSeq NP_005826 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_005826 RefSeq XP_005248841 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005248841 RefSeq XP_006715012 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006715012 STRING 9606.ENSP00000353677 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000353677&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.1.14.29 http://www.tcdb.org/search/result.php?tc=2.A.1.14.29 UCSC uc003nfl http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003nfl&org=rat UniGene Hs.591802 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.591802 UniProtKB NPT3_HUMAN http://www.uniprot.org/uniprot/NPT3_HUMAN UniProtKB-AC O00624 http://www.uniprot.org/uniprot/O00624 charge swissprot:NPT3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:NPT3_HUMAN eggNOG ENOG410XPWC http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XPWC eggNOG KOG2532 http://eggnogapi.embl.de/nog_data/html/tree/KOG2532 epestfind swissprot:NPT3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:NPT3_HUMAN garnier swissprot:NPT3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:NPT3_HUMAN helixturnhelix swissprot:NPT3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:NPT3_HUMAN hmoment swissprot:NPT3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:NPT3_HUMAN iep swissprot:NPT3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:NPT3_HUMAN inforesidue swissprot:NPT3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:NPT3_HUMAN neXtProt NX_O00624 http://www.nextprot.org/db/entry/NX_O00624 octanol swissprot:NPT3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:NPT3_HUMAN pepcoil swissprot:NPT3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:NPT3_HUMAN pepdigest swissprot:NPT3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:NPT3_HUMAN pepinfo swissprot:NPT3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:NPT3_HUMAN pepnet swissprot:NPT3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:NPT3_HUMAN pepstats swissprot:NPT3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:NPT3_HUMAN pepwheel swissprot:NPT3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:NPT3_HUMAN pepwindow swissprot:NPT3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:NPT3_HUMAN sigcleave swissprot:NPT3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:NPT3_HUMAN ## Database ID URL or Descriptions # AltName ORAI2_HUMAN CAP-binding protein complex-interacting protein 2 # AltName ORAI2_HUMAN Transmembrane protein 142B # BioGrid 123192 5 # ChiTaRS ORAI2 human # Ensembl ENST00000356387 ENSP00000348752; ENSG00000160991 # Ensembl ENST00000403646 ENSP00000385489; ENSG00000160991 # Ensembl ENST00000473939 ENSP00000417928; ENSG00000160991 # Ensembl ENST00000478730 ENSP00000418140; ENSG00000160991 # Ensembl ENST00000611770 ENSP00000478113; ENSG00000160991 # ExpressionAtlas Q96SN7 baseline and differential # FUNCTION ORAI2_HUMAN Ca(2+) release-activated Ca(2+)-like (CRAC-like) channel subunit which mediates Ca(2+) influx and increase in Ca(2+)- selective current by synergy with the Ca(2+) sensor, STIM1. {ECO 0000269|PubMed 16807233, ECO 0000269|PubMed 17452328}. # GO_component GO:0016020 membrane; IBA:GO_Central. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0030426 growth cone; IEA:Ensembl. # GO_function GO:0015279 store-operated calcium channel activity; IBA:GO_Central. # GO_process GO:0002115 store-operated calcium entry; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # Genevisible Q96SN7 HS # HGNC HGNC:21667 ORAI2 # IntAct Q96SN7 7 # InterPro IPR012446 CRAC_channel # InterPro IPR030034 Orai-2 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Pathway ko04020 Calcium signaling pathway # MIM 610929 gene # Organism ORAI2_HUMAN Homo sapiens (Human) # PANTHER PTHR31501 PTHR31501 # PANTHER PTHR31501:SF5 PTHR31501:SF5 # Pfam PF07856 Orai-1 # Proteomes UP000005640 Chromosome 7 # Reactome R-HSA-139853 Elevation of cytosolic Ca2+ levels # Reactome R-HSA-5578775 Ion homeostasis # Reactome R-HSA-983695 Antigen activates B Cell Receptor (BCR) leading to generation of second messengers # RecName ORAI2_HUMAN Protein orai-2 # RefSeq NP_001119812 NM_001126340.2 # RefSeq NP_001258747 NM_001271818.1 # RefSeq NP_116220 NM_032831.3 # SEQUENCE CAUTION Sequence=AAG23755.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305}; Sequence=AAP22352.1; Type=Erroneous gene model prediction; Evidence={ECO 0000305}; Sequence=CAG33568.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305}; # SIMILARITY Belongs to the Orai family. {ECO 0000305}. # SUBCELLULAR LOCATION ORAI2_HUMAN Membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. # SUBUNIT Interacts with CRACR2A/EFCAB4B. {ECO:0000269|PubMed 20418871}. # UCSC uc003uzj human # eggNOG ENOG4110DSB LUCA # eggNOG KOG4298 Eukaryota BLAST swissprot:ORAI2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ORAI2_HUMAN COXPRESdb 80228 http://coxpresdb.jp/data/gene/80228.shtml CleanEx HS_ORAI2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ORAI2 DIP DIP-48944N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-48944N DOI 10.1038/nature01782 http://dx.doi.org/10.1038/nature01782 DOI 10.1038/nature04702 http://dx.doi.org/10.1038/nature04702 DOI 10.1038/ncb2045 http://dx.doi.org/10.1038/ncb2045 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.0404089101 http://dx.doi.org/10.1073/pnas.0404089101 DOI 10.1074/jbc.M604589200 http://dx.doi.org/10.1074/jbc.M604589200 DOI 10.1074/jbc.M611374200 http://dx.doi.org/10.1074/jbc.M611374200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AC093668 http://www.ebi.ac.uk/ena/data/view/AC093668 EMBL AC093668 http://www.ebi.ac.uk/ena/data/view/AC093668 EMBL AF258552 http://www.ebi.ac.uk/ena/data/view/AF258552 EMBL AK027639 http://www.ebi.ac.uk/ena/data/view/AK027639 EMBL BC069270 http://www.ebi.ac.uk/ena/data/view/BC069270 EMBL CR457287 http://www.ebi.ac.uk/ena/data/view/CR457287 Ensembl ENST00000356387 http://www.ensembl.org/id/ENST00000356387 Ensembl ENST00000403646 http://www.ensembl.org/id/ENST00000403646 Ensembl ENST00000473939 http://www.ensembl.org/id/ENST00000473939 Ensembl ENST00000478730 http://www.ensembl.org/id/ENST00000478730 Ensembl ENST00000611770 http://www.ensembl.org/id/ENST00000611770 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0030426 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030426 GO_function GO:0015279 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015279 GO_process GO:0002115 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002115 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GeneCards ORAI2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ORAI2 GeneID 80228 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=80228 GeneTree ENSGT00390000015354 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000015354 HGNC HGNC:21667 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:21667 HOGENOM HOG000246925 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000246925&db=HOGENOM6 HOVERGEN HBG081343 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG081343&db=HOVERGEN HPA HPA055137 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA055137 HPA HPA065937 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA065937 InParanoid Q96SN7 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q96SN7 IntAct Q96SN7 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q96SN7* InterPro IPR012446 http://www.ebi.ac.uk/interpro/entry/IPR012446 InterPro IPR030034 http://www.ebi.ac.uk/interpro/entry/IPR030034 Jabion 80228 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=80228 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Gene hsa:80228 http://www.genome.jp/dbget-bin/www_bget?hsa:80228 KEGG_Orthology KO:K16057 http://www.genome.jp/dbget-bin/www_bget?KO:K16057 KEGG_Pathway ko04020 http://www.genome.jp/kegg-bin/show_pathway?ko04020 MIM 610929 http://www.ncbi.nlm.nih.gov/omim/610929 MINT MINT-1373233 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1373233 OMA PACSEPG http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=PACSEPG OrthoDB EOG091G0E4P http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0E4P PANTHER PTHR31501 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR31501 PANTHER PTHR31501:SF5 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR31501:SF5 PSORT swissprot:ORAI2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ORAI2_HUMAN PSORT-B swissprot:ORAI2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ORAI2_HUMAN PSORT2 swissprot:ORAI2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ORAI2_HUMAN Pfam PF07856 http://pfam.xfam.org/family/PF07856 PharmGKB PA162398454 http://www.pharmgkb.org/do/serve?objId=PA162398454&objCls=Gene Phobius swissprot:ORAI2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ORAI2_HUMAN PhylomeDB Q96SN7 http://phylomedb.org/?seqid=Q96SN7 ProteinModelPortal Q96SN7 http://www.proteinmodelportal.org/query/uniprot/Q96SN7 PubMed 12853948 http://www.ncbi.nlm.nih.gov/pubmed/12853948 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15498874 http://www.ncbi.nlm.nih.gov/pubmed/15498874 PubMed 16582901 http://www.ncbi.nlm.nih.gov/pubmed/16582901 PubMed 16807233 http://www.ncbi.nlm.nih.gov/pubmed/16807233 PubMed 17452328 http://www.ncbi.nlm.nih.gov/pubmed/17452328 PubMed 20418871 http://www.ncbi.nlm.nih.gov/pubmed/20418871 Reactome R-HSA-139853 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-139853 Reactome R-HSA-5578775 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5578775 Reactome R-HSA-983695 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-983695 RefSeq NP_001119812 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001119812 RefSeq NP_001258747 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001258747 RefSeq NP_116220 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_116220 STRING 9606.ENSP00000348752 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000348752&targetmode=cogs UCSC uc003uzj http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003uzj&org=rat UniGene Hs.363308 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.363308 UniGene Hs.736659 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.736659 UniProtKB ORAI2_HUMAN http://www.uniprot.org/uniprot/ORAI2_HUMAN UniProtKB-AC Q96SN7 http://www.uniprot.org/uniprot/Q96SN7 charge swissprot:ORAI2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ORAI2_HUMAN eggNOG ENOG4110DSB http://eggnogapi.embl.de/nog_data/html/tree/ENOG4110DSB eggNOG KOG4298 http://eggnogapi.embl.de/nog_data/html/tree/KOG4298 epestfind swissprot:ORAI2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ORAI2_HUMAN garnier swissprot:ORAI2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ORAI2_HUMAN helixturnhelix swissprot:ORAI2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ORAI2_HUMAN hmoment swissprot:ORAI2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ORAI2_HUMAN iep swissprot:ORAI2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ORAI2_HUMAN inforesidue swissprot:ORAI2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ORAI2_HUMAN neXtProt NX_Q96SN7 http://www.nextprot.org/db/entry/NX_Q96SN7 octanol swissprot:ORAI2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ORAI2_HUMAN pepcoil swissprot:ORAI2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ORAI2_HUMAN pepdigest swissprot:ORAI2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ORAI2_HUMAN pepinfo swissprot:ORAI2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ORAI2_HUMAN pepnet swissprot:ORAI2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ORAI2_HUMAN pepstats swissprot:ORAI2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ORAI2_HUMAN pepwheel swissprot:ORAI2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ORAI2_HUMAN pepwindow swissprot:ORAI2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ORAI2_HUMAN sigcleave swissprot:ORAI2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ORAI2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S19A1_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=P41440-1; Sequence=Displayed; Name=2; IsoId=P41440-2; Sequence=VSP_042891; Note=No experimental confirmation available.; Name=3; IsoId=P41440-3; Sequence=VSP_044497; Note=No experimental confirmation available.; # AltName S19A1_HUMAN Intestinal folate carrier 1 # AltName S19A1_HUMAN Placental folate transporter # AltName S19A1_HUMAN Reduced folate carrier protein # AltName S19A1_HUMAN Solute carrier family 19 member 1 # BioGrid 112461 3 # CCDS CCDS13725 -. [P41440-1] # CCDS CCDS56217 -. [P41440-2] # CCDS CCDS56218 -. [P41440-3] # CDD cd06174 MFS # DrugBank DB00563 Methotrexate # DrugBank DB06813 Pralatrexate # Ensembl ENST00000311124 ENSP00000308895; ENSG00000173638. [P41440-1] # Ensembl ENST00000380010 ENSP00000369347; ENSG00000173638. [P41440-3] # Ensembl ENST00000485649 ENSP00000441772; ENSG00000173638. [P41440-2] # ExpressionAtlas P41440 baseline and differential # FUNCTION S19A1_HUMAN Transporter for the intake of folate. Uptake of folate in human placental choriocarcinoma cells occurs by a novel mechanism called potocytosis which functionally couples three components, namely the folate receptor, the folate transporter, and a V-type H(+)-pump. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0016323 basolateral plasma membrane; IDA:BHF-UCL. # GO_component GO:0016324 apical plasma membrane; IDA:BHF-UCL. # GO_function GO:0005542 folic acid binding; IBA:GO_Central. # GO_function GO:0008517 folic acid transporter activity; ISS:BHF-UCL. # GO_function GO:0008518 reduced folate carrier activity; IDA:BHF-UCL. # GO_function GO:0015350 methotrexate transporter activity; TAS:ProtInc. # GO_process GO:0015884 folic acid transport; ISS:BHF-UCL. # GO_process GO:0046655 folic acid metabolic process; TAS:Reactome. # GO_process GO:0098838 reduced folate transmembrane transport; IDA:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0044281 small molecule metabolic process # GOslim_process GO:0051186 cofactor metabolic process # GOslim_process GO:0055085 transmembrane transport # Genevisible P41440 HS # HGNC HGNC:10937 SLC19A1 # IntAct P41440 2 # InterPro IPR002666 Folate_carrier # InterPro IPR020846 MFS_dom # InterPro IPR028339 RFC # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02001 Solute carrier family # KEGG_Pathway ko04977 Vitamin digestion and absorption # MIM 600424 gene # Organism S19A1_HUMAN Homo sapiens (Human) # Orphanet 306574 Methotrexate dose selection # PANTHER PTHR10686 PTHR10686 # PANTHER PTHR10686:SF12 PTHR10686:SF12 # PIR I38924 I38924 # PIR I52728 I52728 # PIRSF PIRSF028739 Folate_carrier # PIRSF PIRSF500793 Folate_transporter_1 # PTM S19A1_HUMAN Heavily glycosylated. # Pfam PF01770 Folate_carrier # Proteomes UP000005640 Chromosome 21 # Reactome R-HSA-196757 Metabolism of folate and pterines # RecName S19A1_HUMAN Folate transporter 1 # RefSeq NP_001192135 NM_001205206.1. [P41440-3] # RefSeq NP_001192136 NM_001205207.1. [P41440-2] # RefSeq NP_919231 NM_194255.2. [P41440-1] # RefSeq XP_011528002 XM_011529700.2. [P41440-1] # RefSeq XP_011528003 XM_011529701.2. [P41440-1] # RefSeq XP_011528004 XM_011529702.2. [P41440-1] # RefSeq XP_011528005 XM_011529703.2. [P41440-1] # RefSeq XP_011528006 XM_011529704.2. [P41440-1] # RefSeq XP_016883935 XM_017028446.1. [P41440-3] # SIMILARITY Belongs to the reduced folate carrier (RFC) transporter (TC 2.A.48) family. {ECO 0000305}. # SUBCELLULAR LOCATION S19A1_HUMAN Membrane; Multi-pass membrane protein. # SUPFAM SSF103473 SSF103473; 2 # TCDB 2.A.48.1 the reduced folate carrier (rfc) family # TIGRFAMs TIGR00806 rfc # TISSUE SPECIFICITY S19A1_HUMAN Placenta, liver, and to a much smaller extent, in lung. # UCSC uc002zhl human. [P41440-1] # eggNOG ENOG410XT34 LUCA # eggNOG KOG3810 Eukaryota BLAST swissprot:S19A1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S19A1_HUMAN BioCyc ZFISH:ENSG00000173638-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000173638-MONOMER COXPRESdb 6573 http://coxpresdb.jp/data/gene/6573.shtml CleanEx HS_FLOT1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_FLOT1 CleanEx HS_RFC1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_RFC1 CleanEx HS_SLC19A1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC19A1 DOI 10.1006/bbrc.1995.1096 http://dx.doi.org/10.1006/bbrc.1995.1096 DOI 10.1021/ac9004309 http://dx.doi.org/10.1021/ac9004309 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/35012518 http://dx.doi.org/10.1038/35012518 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1053/gast.1997.v112.pm9041240 http://dx.doi.org/10.1053/gast.1997.v112.pm9041240 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1073/pnas.1210303109 http://dx.doi.org/10.1073/pnas.1210303109 DOI 10.1074/jbc.270.29.17468 http://dx.doi.org/10.1074/jbc.270.29.17468 DOI 10.1074/jbc.270.7.2987 http://dx.doi.org/10.1074/jbc.270.7.2987 DOI 10.1074/jbc.274.23.16269 http://dx.doi.org/10.1074/jbc.274.23.16269 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 DrugBank DB00563 http://www.drugbank.ca/drugs/DB00563 DrugBank DB06813 http://www.drugbank.ca/drugs/DB06813 EMBL AF004354 http://www.ebi.ac.uk/ena/data/view/AF004354 EMBL AK303168 http://www.ebi.ac.uk/ena/data/view/AK303168 EMBL AK313125 http://www.ebi.ac.uk/ena/data/view/AK313125 EMBL AL163302 http://www.ebi.ac.uk/ena/data/view/AL163302 EMBL BC003068 http://www.ebi.ac.uk/ena/data/view/BC003068 EMBL BX322561 http://www.ebi.ac.uk/ena/data/view/BX322561 EMBL CH471079 http://www.ebi.ac.uk/ena/data/view/CH471079 EMBL S78996 http://www.ebi.ac.uk/ena/data/view/S78996 EMBL U15939 http://www.ebi.ac.uk/ena/data/view/U15939 EMBL U17566 http://www.ebi.ac.uk/ena/data/view/U17566 EMBL U19720 http://www.ebi.ac.uk/ena/data/view/U19720 EMBL U92869 http://www.ebi.ac.uk/ena/data/view/U92869 EMBL U92870 http://www.ebi.ac.uk/ena/data/view/U92870 EMBL U92871 http://www.ebi.ac.uk/ena/data/view/U92871 EMBL U92872 http://www.ebi.ac.uk/ena/data/view/U92872 EMBL U92873 http://www.ebi.ac.uk/ena/data/view/U92873 Ensembl ENST00000311124 http://www.ensembl.org/id/ENST00000311124 Ensembl ENST00000380010 http://www.ensembl.org/id/ENST00000380010 Ensembl ENST00000485649 http://www.ensembl.org/id/ENST00000485649 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016323 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_function GO:0005542 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005542 GO_function GO:0008517 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008517 GO_function GO:0008518 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008518 GO_function GO:0015350 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015350 GO_process GO:0015884 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015884 GO_process GO:0046655 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046655 GO_process GO:0098838 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0098838 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GOslim_process GO:0051186 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051186 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC19A1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC19A1 GeneID 6573 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6573 GeneTree ENSGT00510000046382 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00510000046382 HGNC HGNC:10937 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10937 HOGENOM HOG000001583 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000001583&db=HOGENOM6 HOVERGEN HBG054198 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG054198&db=HOVERGEN HPA HPA024802 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA024802 InParanoid P41440 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P41440 IntAct P41440 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P41440* InterPro IPR002666 http://www.ebi.ac.uk/interpro/entry/IPR002666 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 InterPro IPR028339 http://www.ebi.ac.uk/interpro/entry/IPR028339 Jabion 6573 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6573 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:6573 http://www.genome.jp/dbget-bin/www_bget?hsa:6573 KEGG_Orthology KO:K14609 http://www.genome.jp/dbget-bin/www_bget?KO:K14609 KEGG_Pathway ko04977 http://www.genome.jp/kegg-bin/show_pathway?ko04977 MIM 600424 http://www.ncbi.nlm.nih.gov/omim/600424 OMA TSSIWLC http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=TSSIWLC Orphanet 306574 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=306574 OrthoDB EOG091G0BSJ http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0BSJ PANTHER PTHR10686 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10686 PANTHER PTHR10686:SF12 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10686:SF12 PSORT swissprot:S19A1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S19A1_HUMAN PSORT-B swissprot:S19A1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S19A1_HUMAN PSORT2 swissprot:S19A1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S19A1_HUMAN Pfam PF01770 http://pfam.xfam.org/family/PF01770 PharmGKB PA327 http://www.pharmgkb.org/do/serve?objId=PA327&objCls=Gene Phobius swissprot:S19A1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S19A1_HUMAN PhylomeDB P41440 http://phylomedb.org/?seqid=P41440 ProteinModelPortal P41440 http://www.proteinmodelportal.org/query/uniprot/P41440 PubMed 10347183 http://www.ncbi.nlm.nih.gov/pubmed/10347183 PubMed 10830953 http://www.ncbi.nlm.nih.gov/pubmed/10830953 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 19413330 http://www.ncbi.nlm.nih.gov/pubmed/19413330 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 22814378 http://www.ncbi.nlm.nih.gov/pubmed/22814378 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 7615551 http://www.ncbi.nlm.nih.gov/pubmed/7615551 PubMed 7641195 http://www.ncbi.nlm.nih.gov/pubmed/7641195 PubMed 7826387 http://www.ncbi.nlm.nih.gov/pubmed/7826387 PubMed 7852378 http://www.ncbi.nlm.nih.gov/pubmed/7852378 PubMed 9041240 http://www.ncbi.nlm.nih.gov/pubmed/9041240 Reactome R-HSA-196757 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-196757 RefSeq NP_001192135 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001192135 RefSeq NP_001192136 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001192136 RefSeq NP_919231 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_919231 RefSeq XP_011528002 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011528002 RefSeq XP_011528003 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011528003 RefSeq XP_011528004 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011528004 RefSeq XP_011528005 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011528005 RefSeq XP_011528006 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011528006 RefSeq XP_016883935 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016883935 STRING 9606.ENSP00000308895 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000308895&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.48.1 http://www.tcdb.org/search/result.php?tc=2.A.48.1 TIGRFAMs TIGR00806 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00806 UCSC uc002zhl http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002zhl&org=rat UniGene Hs.736903 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.736903 UniGene Hs.84190 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.84190 UniProtKB S19A1_HUMAN http://www.uniprot.org/uniprot/S19A1_HUMAN UniProtKB-AC P41440 http://www.uniprot.org/uniprot/P41440 charge swissprot:S19A1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S19A1_HUMAN eggNOG ENOG410XT34 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XT34 eggNOG KOG3810 http://eggnogapi.embl.de/nog_data/html/tree/KOG3810 epestfind swissprot:S19A1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S19A1_HUMAN garnier swissprot:S19A1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S19A1_HUMAN helixturnhelix swissprot:S19A1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S19A1_HUMAN hmoment swissprot:S19A1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S19A1_HUMAN iep swissprot:S19A1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S19A1_HUMAN inforesidue swissprot:S19A1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S19A1_HUMAN neXtProt NX_P41440 http://www.nextprot.org/db/entry/NX_P41440 octanol swissprot:S19A1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S19A1_HUMAN pepcoil swissprot:S19A1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S19A1_HUMAN pepdigest swissprot:S19A1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S19A1_HUMAN pepinfo swissprot:S19A1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S19A1_HUMAN pepnet swissprot:S19A1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S19A1_HUMAN pepstats swissprot:S19A1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S19A1_HUMAN pepwheel swissprot:S19A1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S19A1_HUMAN pepwindow swissprot:S19A1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S19A1_HUMAN sigcleave swissprot:S19A1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S19A1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS MDR1_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P08183-1; Sequence=Displayed; Name=2; IsoId=P08183-2; Sequence=VSP_055769; # AltName MDR1_HUMAN ATP-binding cassette sub-family B member 1 # AltName MDR1_HUMAN CD243 # AltName MDR1_HUMAN P-glycoprotein 1 # BRENDA 3.6.3.44 2681 # BioGrid 111262 14 # CATALYTIC ACTIVITY MDR1_HUMAN ATP + H(2)O + xenobiotic(In) = ADP + phosphate + xenobiotic(Out). # CCDS CCDS5608 -. [P08183-1] # ChiTaRS ABCB1 human # DISEASE MDR1_HUMAN Inflammatory bowel disease 13 (IBD13) [MIM 612244] A chronic, relapsing inflammation of the gastrointestinal tract with a complex etiology. It is subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn disease may affect any part of the gastrointestinal tract from the mouth to the anus, but most frequently it involves the terminal ileum and colon. Bowel inflammation is transmural and discontinuous; it may contain granulomas or be associated with intestinal or perianal fistulas. In contrast, in ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers; fistulas and granulomas are not observed. Both diseases include extraintestinal inflammation of the skin, eyes, or joints. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. # DrugBank DB00027 Gramicidin D # DrugBank DB00091 Cyclosporine # DrugBank DB00171 Adenosine triphosphate # DrugBank DB00175 Pravastatin # DrugBank DB00176 Fluvoxamine # DrugBank DB00196 Fluconazole # DrugBank DB00199 Erythromycin # DrugBank DB00201 Caffeine # DrugBank DB00206 Reserpine # DrugBank DB00207 Azithromycin # DrugBank DB00213 Pantoprazole # DrugBank DB00215 Citalopram # DrugBank DB00216 Eletriptan # DrugBank DB00220 Nelfinavir # DrugBank DB00224 Indinavir # DrugBank DB00227 Lovastatin # DrugBank DB00234 Reboxetine # DrugBank DB00252 Phenytoin # DrugBank DB00255 Diethylstilbestrol # DrugBank DB00257 Clotrimazole # DrugBank DB00264 Metoprolol # DrugBank DB00276 Amsacrine # DrugBank DB00279 Liothyronine # DrugBank DB00281 Lidocaine # DrugBank DB00285 Venlafaxine # DrugBank DB00286 Conjugated Estrogens # DrugBank DB00295 Morphine # DrugBank DB00305 Mitomycin # DrugBank DB00316 Acetaminophen # DrugBank DB00317 Gefitinib # DrugBank DB00320 Dihydroergotamine # DrugBank DB00321 Amitriptyline # DrugBank DB00328 Indomethacin # DrugBank DB00333 Methadone # DrugBank DB00334 Olanzapine # DrugBank DB00335 Atenolol # DrugBank DB00338 Omeprazole # DrugBank DB00343 Diltiazem # DrugBank DB00344 Protriptyline # DrugBank DB00345 Aminohippurate # DrugBank DB00349 Clobazam # DrugBank DB00351 Megestrol acetate # DrugBank DB00358 Mefloquine # DrugBank DB00361 Vinorelbine # DrugBank DB00363 Clozapine # DrugBank DB00371 Meprobamate # DrugBank DB00373 Timolol # DrugBank DB00381 Amlodipine # DrugBank DB00390 Digoxin # DrugBank DB00396 Progesterone # DrugBank DB00398 Sorafenib # DrugBank DB00401 Nisoldipine # DrugBank DB00421 Spironolactone # DrugBank DB00428 Streptozocin # DrugBank DB00440 Trimethoprim # DrugBank DB00441 Gemcitabine # DrugBank DB00443 Betamethasone # DrugBank DB00448 Lansoprazole # DrugBank DB00451 Levothyroxine # DrugBank DB00455 Loratadine # DrugBank DB00457 Prazosin # DrugBank DB00458 Imipramine # DrugBank DB00468 Quinine # DrugBank DB00470 Dronabinol # DrugBank DB00472 Fluoxetine # DrugBank DB00477 Chlorpromazine # DrugBank DB00480 Lenalidomide # DrugBank DB00490 Buspirone # DrugBank DB00495 Zidovudine # DrugBank DB00501 Cimetidine # DrugBank DB00502 Haloperidol # DrugBank DB00503 Ritonavir # DrugBank DB00508 Triflupromazine # DrugBank DB00514 Dextromethorphan # DrugBank DB00515 Cisplatin # DrugBank DB00518 Albendazole # DrugBank DB00520 Caspofungin # DrugBank DB00523 Alitretinoin # DrugBank DB00530 Erlotinib # DrugBank DB00531 Cyclophosphamide # DrugBank DB00537 Ciprofloxacin # DrugBank DB00539 Toremifene # DrugBank DB00541 Vincristine # DrugBank DB00555 Lamotrigine # DrugBank DB00563 Methotrexate # DrugBank DB00564 Carbamazepine # DrugBank DB00570 Vinblastine # DrugBank DB00571 Propranolol # DrugBank DB00575 Clonidine # DrugBank DB00584 Enalapril # DrugBank DB00585 Nizatidine # DrugBank DB00586 Diclofenac # DrugBank DB00590 Doxazosin # DrugBank DB00602 Ivermectin # DrugBank DB00608 Chloroquine # DrugBank DB00619 Imatinib # DrugBank DB00622 Nicardipine # DrugBank DB00623 Fluphenazine # DrugBank DB00624 Testosterone # DrugBank DB00635 Prednisone # DrugBank DB00637 Astemizole # DrugBank DB00641 Simvastatin # DrugBank DB00643 Mebendazole # DrugBank DB00655 Estrone # DrugBank DB00656 Trazodone # DrugBank DB00661 Verapamil # DrugBank DB00669 Sumatriptan # DrugBank DB00672 Chlorpropamide # DrugBank DB00675 Tamoxifen # DrugBank DB00678 Losartan # DrugBank DB00683 Midazolam # DrugBank DB00688 Mycophenolate mofetil # DrugBank DB00690 Flurazepam # DrugBank DB00694 Daunorubicin # DrugBank DB00696 Ergotamine # DrugBank DB00701 Amprenavir # DrugBank DB00704 Naltrexone # DrugBank DB00709 Lamivudine # DrugBank DB00715 Paroxetine # DrugBank DB00717 Norethisterone # DrugBank DB00722 Lisinopril # DrugBank DB00726 Trimipramine # DrugBank DB00734 Risperidone # DrugBank DB00741 Hydrocortisone # DrugBank DB00742 Mannitol # DrugBank DB00747 Scopolamine # DrugBank DB00751 Epinastine # DrugBank DB00758 Clopidogrel # DrugBank DB00762 Irinotecan # DrugBank DB00773 Etoposide # DrugBank DB00778 Roxithromycin # DrugBank DB00783 Estradiol # DrugBank DB00790 Perindopril # DrugBank DB00796 Candesartan # DrugBank DB00802 Alfentanil # DrugBank DB00810 Biperiden # DrugBank DB00813 Fentanyl # DrugBank DB00829 Diazepam # DrugBank DB00831 Trifluoperazine # DrugBank DB00834 Mifepristone # DrugBank DB00836 Loperamide # DrugBank DB00845 Clofazimine # DrugBank DB00860 Prednisolone # DrugBank DB00863 Ranitidine # DrugBank DB00864 Tacrolimus # DrugBank DB00875 Flupentixol # DrugBank DB00877 Sirolimus # DrugBank DB00882 Clomifene # DrugBank DB00908 Quinidine # DrugBank DB00915 Amantadine # DrugBank DB00921 Buprenorphine # DrugBank DB00934 Maprotiline # DrugBank DB00936 Salicylic acid # DrugBank DB00945 Acetylsalicylic acid # DrugBank DB00950 Fexofenadine # DrugBank DB00959 Methylprednisolone # DrugBank DB00966 Telmisartan # DrugBank DB00967 Desloratadine # DrugBank DB00970 Dactinomycin # DrugBank DB00972 Azelastine # DrugBank DB00973 Ezetimibe # DrugBank DB00975 Dipyridamole # DrugBank DB00977 Ethinyl Estradiol # DrugBank DB00997 Doxorubicin # DrugBank DB01016 Glyburide # DrugBank DB01023 Felodipine # DrugBank DB01026 Ketoconazole # DrugBank DB01030 Topotecan # DrugBank DB01032 Probenecid # DrugBank DB01037 Selegiline # DrugBank DB01045 Rifampicin # DrugBank DB01050 Ibuprofen # DrugBank DB01054 Nitrendipine # DrugBank DB01069 Promethazine # DrugBank DB01072 Atazanavir # DrugBank DB01076 Atorvastatin # DrugBank DB01086 Benzocaine # DrugBank DB01100 Pimozide # DrugBank DB01103 Quinacrine # DrugBank DB01104 Sertraline # DrugBank DB01110 Miconazole # DrugBank DB01115 Nifedipine # DrugBank DB01118 Amiodarone # DrugBank DB01136 Carvedilol # DrugBank DB01137 Levofloxacin # DrugBank DB01138 Sulfinpyrazone # DrugBank DB01142 Doxepin # DrugBank DB01149 Nefazodone # DrugBank DB01151 Desipramine # DrugBank DB01162 Terazosin # DrugBank DB01167 Itraconazole # DrugBank DB01169 Arsenic trioxide # DrugBank DB01174 Phenobarbital # DrugBank DB01182 Propafenone # DrugBank DB01183 Naloxone # DrugBank DB01184 Domperidone # DrugBank DB01193 Acebutolol # DrugBank DB01196 Estramustine # DrugBank DB01197 Captopril # DrugBank DB01200 Bromocriptine # DrugBank DB01202 Levetiracetam # DrugBank DB01203 Nadolol # DrugBank DB01204 Mitoxantrone # DrugBank DB01208 Sparfloxacin # DrugBank DB01211 Clarithromycin # DrugBank DB01221 Ketamine # DrugBank DB01224 Quetiapine # DrugBank DB01229 Paclitaxel # DrugBank DB01232 Saquinavir # DrugBank DB01234 Dexamethasone # DrugBank DB01239 Chlorprothixene # DrugBank DB01242 Clomipramine # DrugBank DB01244 Bepridil # DrugBank DB01248 Docetaxel # DrugBank DB01253 Ergonovine # DrugBank DB01254 Dasatinib # DrugBank DB01259 Lapatinib # DrugBank DB01261 Sitagliptin # DrugBank DB01263 Posaconazole # DrugBank DB01268 Sunitinib # DrugBank DB01339 Vecuronium # DrugBank DB01340 Cilazapril # DrugBank DB01361 Troleandomycin # DrugBank DB01394 Colchicine # DrugBank DB01396 Digitoxin # DrugBank DB01400 Neostigmine # DrugBank DB01583 Liotrix # DrugBank DB01587 Ketazolam # DrugBank DB01595 Nitrazepam # DrugBank DB01601 Lopinavir # DrugBank DB02659 Cholic Acid # DrugBank DB04573 Estriol # DrugBank DB04840 Debrisoquin # DrugBank DB04855 Dronedarone # DrugBank DB04868 Nilotinib # DrugBank DB04877 Voacamine # DrugBank DB05039 Indacaterol # DrugBank DB05239 Cobimetinib # DrugBank DB05521 Telaprevir # DrugBank DB05773 ado-trastuzumab emtansine # DrugBank DB06176 Romidepsin # DrugBank DB06207 Silodosin # DrugBank DB06212 Tolvaptan # DrugBank DB06228 Rivaroxaban # DrugBank DB06287 Temsirolimus # DrugBank DB06290 Simeprevir # DrugBank DB06292 Dapagliflozin # DrugBank DB06403 Ambrisentan # DrugBank DB06414 Etravirine # DrugBank DB06589 Pazopanib # DrugBank DB06603 Panobinostat # DrugBank DB06605 Apixaban # DrugBank DB06616 Bosutinib # DrugBank DB06626 Axitinib # DrugBank DB06636 Isavuconazonium # DrugBank DB06695 Dabigatran etexilate # DrugBank DB06702 Fesoterodine # DrugBank DB06772 Cabazitaxel # DrugBank DB08816 Ticagrelor # DrugBank DB08820 Ivacaftor # DrugBank DB08827 Lomitapide # DrugBank DB08828 Vismodegib # DrugBank DB08860 Pitavastatin # DrugBank DB08864 Rilpivirine # DrugBank DB08865 Crizotinib # DrugBank DB08867 Ulipristal # DrugBank DB08870 Brentuximab vedotin # DrugBank DB08873 Boceprevir # DrugBank DB08874 Fidaxomicin # DrugBank DB08882 Linagliptin # DrugBank DB08889 Carfilzomib # DrugBank DB08893 Mirabegron # DrugBank DB08896 Regorafenib # DrugBank DB08899 Enzalutamide # DrugBank DB08901 Ponatinib # DrugBank DB08906 Fluticasone furoate # DrugBank DB08907 Canagliflozin # DrugBank DB08910 Pomalidomide # DrugBank DB08912 Dabrafenib # DrugBank DB08916 Afatinib # DrugBank DB08918 Levomilnacipran # DrugBank DB08934 Sofosbuvir # DrugBank DB09054 Idelalisib # DrugBank DB09063 Ceritinib # DrugBank DB09065 Cobicistat # DrugBank DB09075 Edoxaban # DrugBank DB09076 Umeclidinium # DrugBank DB09078 Lenvatinib # DrugBank DB09079 Nintedanib # DrugBank DB09102 Daclatasvir # DrugBank DB09291 Rolapitant # DrugBank DB09330 Osimertinib # DrugBank DB11362 Selexipag # DrugBank DB11363 Alectinib # Ensembl ENST00000265724 ENSP00000265724; ENSG00000085563. [P08183-1] # Ensembl ENST00000543898 ENSP00000444095; ENSG00000085563. [P08183-2] # Ensembl ENST00000622132 ENSP00000478255; ENSG00000085563. [P08183-1] # ExpressionAtlas P08183 baseline and differential # FUNCTION MDR1_HUMAN Energy-dependent efflux pump responsible for decreased drug accumulation in multidrug-resistant cells. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0009986 cell surface; IDA:DFLAT. # GO_component GO:0016020 membrane; TAS:ProtInc. # GO_component GO:0016021 integral component of membrane; TAS:ProtInc. # GO_component GO:0016324 apical plasma membrane; IDA:BHF-UCL. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0005215 transporter activity; TAS:ProtInc. # GO_function GO:0005524 ATP binding; TAS:ProtInc. # GO_function GO:0008559 xenobiotic-transporting ATPase activity; TAS:Reactome. # GO_function GO:0042626 ATPase activity, coupled to transmembrane movement of substances; TAS:ProtInc. # GO_function GO:0090554 phosphatidylcholine-translocating ATPase activity; IDA:BHF-UCL. # GO_function GO:0090555 phosphatidylethanolamine-translocating ATPase activity; IDA:BHF-UCL. # GO_function GO:0099038 ceramide-translocating ATPase activity; IDA:BHF-UCL. # GO_process GO:0000086 G2/M transition of mitotic cell cycle; IDA:DFLAT. # GO_process GO:0002481 antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent; IBA:GO_Central. # GO_process GO:0002485 antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent; IBA:GO_Central. # GO_process GO:0002489 antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent; IBA:GO_Central. # GO_process GO:0002591 positive regulation of antigen processing and presentation of peptide antigen via MHC class I; IBA:GO_Central. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0042493 response to drug; TAS:ProtInc. # GO_process GO:0045332 phospholipid translocation; IDA:BHF-UCL. # GO_process GO:0055085 transmembrane transport; TAS:Reactome. # GO_process GO:0072089 stem cell proliferation; IMP:DFLAT. # GO_process GO:0099040 ceramide translocation; IDA:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0002376 immune system process # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0008283 cell proliferation # GOslim_process GO:0055085 transmembrane transport # GOslim_process GO:0061024 membrane organization # Gene3D 3.40.50.300 -; 2. # Genevisible P08183 HS # HGNC HGNC:40 ABCB1 # INTERACTION MDR1_HUMAN Q86VI4 LAPTM4B; NbExp=2; IntAct=EBI-1057359, EBI-3267258; Q99496 RNF2; NbExp=2; IntAct=EBI-1057359, EBI-722416; # IntAct P08183 6 # InterPro IPR003439 ABC_transporter-like # InterPro IPR003593 AAA+_ATPase # InterPro IPR011527 ABC1_TM_dom # InterPro IPR017871 ABC_transporter_CS # InterPro IPR027417 P-loop_NTPase # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02000 Transporters # KEGG_Brite ko04090 Cellular antigens # KEGG_Disease H01529 [Skeletal dysplasia] Osteonecrosis of the femoral head # KEGG_Pathway ko02010 ABC transporters # KEGG_Pathway ko04976 Bile secretion # MIM 171050 gene # MIM 612244 phenotype # Organism MDR1_HUMAN Homo sapiens (Human) # Orphanet 771 Ulcerative colitis # PIR A34914 DVHU1 # POLYMORPHISM MDR1_HUMAN Genetic variation in ABCB1 may play a role in patients who do not respond to drug treatment. {ECO 0000269|PubMed 2876781, ECO 0000269|PubMed 2897240, ECO 0000269|PubMed 9038218}. # PROSITE PS00211 ABC_TRANSPORTER_1; 2 # PROSITE PS50893 ABC_TRANSPORTER_2; 2 # PROSITE PS50929 ABC_TM1F; 2 # Pfam PF00005 ABC_tran; 2 # Pfam PF00664 ABC_membrane; 2 # Proteomes UP000005640 Chromosome 7 # Reactome R-HSA-2161517 Abacavir transmembrane transport # Reactome R-HSA-382556 ABC-family proteins mediated transport # RecName MDR1_HUMAN Multidrug resistance protein 1 # RefSeq NP_000918 NM_000927.4. [P08183-1] # SEQUENCE CAUTION Sequence=AAM49149.1; Type=Erroneous gene model prediction; Evidence={ECO 0000305}; # SIMILARITY Belongs to the ABC transporter superfamily. ABCB family. Multidrug resistance exporter (TC 3.A.1.201) subfamily. {ECO 0000305}. # SIMILARITY Contains 2 ABC transmembrane type-1 domains. {ECO:0000255|PROSITE-ProRule PRU00441}. # SIMILARITY Contains 2 ABC transporter domains. {ECO:0000255|PROSITE-ProRule PRU00434}. # SMART SM00382 AAA; 2 # SUBCELLULAR LOCATION MDR1_HUMAN Cell membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000255|PROSITE-ProRule PRU00441}. # SUBUNIT MDR1_HUMAN Interacts with PSMB5. Finds in a complex with ABCB1, TFPI2 and PPP2R3C; leading to the dephosphorylation of ABCB1. {ECO 0000269|PubMed 15488952, ECO 0000269|PubMed 24333728}. # SUPFAM SSF52540 SSF52540; 2 # SUPFAM SSF90123 SSF90123; 2 # TCDB 3.A.1.201 the atp-binding cassette (abc) superfamily # TISSUE SPECIFICITY MDR1_HUMAN Expressed in liver, kidney, small intestine and brain. # UCSC uc003uiz human. [P08183-1] # WEB RESOURCE MDR1_HUMAN Name=ABCMdb; Note=Database for mutations in ABC proteins; URL="http //abcmutations.hegelab.org/proteinDetails?uniprot_id=P08183"; # WEB RESOURCE MDR1_HUMAN Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http //atlasgeneticsoncology.org/Genes/PGY1ID105.html"; # WEB RESOURCE MDR1_HUMAN Name=NIEHS-SNPs; URL="http //egp.gs.washington.edu/data/abcb1/"; # WEB RESOURCE MDR1_HUMAN Name=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="http //shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=ABCB1"; # WEB RESOURCE MDR1_HUMAN Name=Wikipedia; Note=P-glycoprotein entry; URL="https //en.wikipedia.org/wiki/P-glycoprotein"; # eggNOG COG1132 LUCA # eggNOG KOG0055 Eukaryota BLAST swissprot:MDR1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:MDR1_HUMAN BioCyc ZFISH:HS01500-MONOMER http://biocyc.org/getid?id=ZFISH:HS01500-MONOMER COXPRESdb 5243 http://coxpresdb.jp/data/gene/5243.shtml CleanEx HS_ABCB1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ABCB1 DOI 10.1002/(SICI)1098-1004(200005)15:5<486::AID-HUMU26>3.3.CO http://dx.doi.org/10.1002/(SICI)1098-1004(200005)15:5<486::AID-HUMU26>3.3.CO DOI 10.1007/s10038-002-8653-6 http://dx.doi.org/10.1007/s10038-002-8653-6 DOI 10.1016/0006-291X(89)91985-2 http://dx.doi.org/10.1016/0006-291X(89)91985-2 DOI 10.1016/0006-291X(90)90401-8 http://dx.doi.org/10.1016/0006-291X(90)90401-8 DOI 10.1016/0092-8674(86)90595-7 http://dx.doi.org/10.1016/0092-8674(86)90595-7 DOI 10.1016/0092-8674(88)90568-5 http://dx.doi.org/10.1016/0092-8674(88)90568-5 DOI 10.1016/j.canlet.2013.12.007 http://dx.doi.org/10.1016/j.canlet.2013.12.007 DOI 10.1016/j.molimm.2004.07.005 http://dx.doi.org/10.1016/j.molimm.2004.07.005 DOI 10.1038/nature01782 http://dx.doi.org/10.1038/nature01782 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1067/mcp.2001.114164 http://dx.doi.org/10.1067/mcp.2001.114164 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1073/pnas.97.7.3473 http://dx.doi.org/10.1073/pnas.97.7.3473 DOI 10.1074/jbc.272.9.5974 http://dx.doi.org/10.1074/jbc.272.9.5974 DOI 10.1086/379927 http://dx.doi.org/10.1086/379927 DOI 10.1126/science.1133427 http://dx.doi.org/10.1126/science.1133427 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DOI 10.1517/14622416.2.1.51 http://dx.doi.org/10.1517/14622416.2.1.51 DOI 10.2133/dmpk.17.479 http://dx.doi.org/10.2133/dmpk.17.479 DOI 10.2133/dmpk.17.566 http://dx.doi.org/10.2133/dmpk.17.566 DrugBank DB00027 http://www.drugbank.ca/drugs/DB00027 DrugBank DB00091 http://www.drugbank.ca/drugs/DB00091 DrugBank DB00171 http://www.drugbank.ca/drugs/DB00171 DrugBank DB00175 http://www.drugbank.ca/drugs/DB00175 DrugBank DB00176 http://www.drugbank.ca/drugs/DB00176 DrugBank DB00196 http://www.drugbank.ca/drugs/DB00196 DrugBank DB00199 http://www.drugbank.ca/drugs/DB00199 DrugBank DB00201 http://www.drugbank.ca/drugs/DB00201 DrugBank DB00206 http://www.drugbank.ca/drugs/DB00206 DrugBank DB00207 http://www.drugbank.ca/drugs/DB00207 DrugBank DB00213 http://www.drugbank.ca/drugs/DB00213 DrugBank DB00215 http://www.drugbank.ca/drugs/DB00215 DrugBank DB00216 http://www.drugbank.ca/drugs/DB00216 DrugBank DB00220 http://www.drugbank.ca/drugs/DB00220 DrugBank DB00224 http://www.drugbank.ca/drugs/DB00224 DrugBank DB00227 http://www.drugbank.ca/drugs/DB00227 DrugBank DB00234 http://www.drugbank.ca/drugs/DB00234 DrugBank DB00252 http://www.drugbank.ca/drugs/DB00252 DrugBank DB00255 http://www.drugbank.ca/drugs/DB00255 DrugBank DB00257 http://www.drugbank.ca/drugs/DB00257 DrugBank DB00264 http://www.drugbank.ca/drugs/DB00264 DrugBank DB00276 http://www.drugbank.ca/drugs/DB00276 DrugBank DB00279 http://www.drugbank.ca/drugs/DB00279 DrugBank DB00281 http://www.drugbank.ca/drugs/DB00281 DrugBank DB00285 http://www.drugbank.ca/drugs/DB00285 DrugBank DB00286 http://www.drugbank.ca/drugs/DB00286 DrugBank DB00295 http://www.drugbank.ca/drugs/DB00295 DrugBank DB00305 http://www.drugbank.ca/drugs/DB00305 DrugBank DB00316 http://www.drugbank.ca/drugs/DB00316 DrugBank DB00317 http://www.drugbank.ca/drugs/DB00317 DrugBank DB00320 http://www.drugbank.ca/drugs/DB00320 DrugBank DB00321 http://www.drugbank.ca/drugs/DB00321 DrugBank DB00328 http://www.drugbank.ca/drugs/DB00328 DrugBank DB00333 http://www.drugbank.ca/drugs/DB00333 DrugBank DB00334 http://www.drugbank.ca/drugs/DB00334 DrugBank DB00335 http://www.drugbank.ca/drugs/DB00335 DrugBank DB00338 http://www.drugbank.ca/drugs/DB00338 DrugBank DB00343 http://www.drugbank.ca/drugs/DB00343 DrugBank DB00344 http://www.drugbank.ca/drugs/DB00344 DrugBank DB00345 http://www.drugbank.ca/drugs/DB00345 DrugBank DB00349 http://www.drugbank.ca/drugs/DB00349 DrugBank DB00351 http://www.drugbank.ca/drugs/DB00351 DrugBank DB00358 http://www.drugbank.ca/drugs/DB00358 DrugBank DB00361 http://www.drugbank.ca/drugs/DB00361 DrugBank DB00363 http://www.drugbank.ca/drugs/DB00363 DrugBank DB00371 http://www.drugbank.ca/drugs/DB00371 DrugBank DB00373 http://www.drugbank.ca/drugs/DB00373 DrugBank DB00381 http://www.drugbank.ca/drugs/DB00381 DrugBank DB00390 http://www.drugbank.ca/drugs/DB00390 DrugBank DB00396 http://www.drugbank.ca/drugs/DB00396 DrugBank DB00398 http://www.drugbank.ca/drugs/DB00398 DrugBank DB00401 http://www.drugbank.ca/drugs/DB00401 DrugBank DB00421 http://www.drugbank.ca/drugs/DB00421 DrugBank DB00428 http://www.drugbank.ca/drugs/DB00428 DrugBank DB00440 http://www.drugbank.ca/drugs/DB00440 DrugBank DB00441 http://www.drugbank.ca/drugs/DB00441 DrugBank DB00443 http://www.drugbank.ca/drugs/DB00443 DrugBank DB00448 http://www.drugbank.ca/drugs/DB00448 DrugBank DB00451 http://www.drugbank.ca/drugs/DB00451 DrugBank DB00455 http://www.drugbank.ca/drugs/DB00455 DrugBank DB00457 http://www.drugbank.ca/drugs/DB00457 DrugBank DB00458 http://www.drugbank.ca/drugs/DB00458 DrugBank DB00468 http://www.drugbank.ca/drugs/DB00468 DrugBank DB00470 http://www.drugbank.ca/drugs/DB00470 DrugBank DB00472 http://www.drugbank.ca/drugs/DB00472 DrugBank DB00477 http://www.drugbank.ca/drugs/DB00477 DrugBank DB00480 http://www.drugbank.ca/drugs/DB00480 DrugBank DB00490 http://www.drugbank.ca/drugs/DB00490 DrugBank DB00495 http://www.drugbank.ca/drugs/DB00495 DrugBank DB00501 http://www.drugbank.ca/drugs/DB00501 DrugBank DB00502 http://www.drugbank.ca/drugs/DB00502 DrugBank DB00503 http://www.drugbank.ca/drugs/DB00503 DrugBank DB00508 http://www.drugbank.ca/drugs/DB00508 DrugBank DB00514 http://www.drugbank.ca/drugs/DB00514 DrugBank DB00515 http://www.drugbank.ca/drugs/DB00515 DrugBank DB00518 http://www.drugbank.ca/drugs/DB00518 DrugBank DB00520 http://www.drugbank.ca/drugs/DB00520 DrugBank DB00523 http://www.drugbank.ca/drugs/DB00523 DrugBank DB00530 http://www.drugbank.ca/drugs/DB00530 DrugBank DB00531 http://www.drugbank.ca/drugs/DB00531 DrugBank DB00537 http://www.drugbank.ca/drugs/DB00537 DrugBank DB00539 http://www.drugbank.ca/drugs/DB00539 DrugBank DB00541 http://www.drugbank.ca/drugs/DB00541 DrugBank DB00555 http://www.drugbank.ca/drugs/DB00555 DrugBank DB00563 http://www.drugbank.ca/drugs/DB00563 DrugBank DB00564 http://www.drugbank.ca/drugs/DB00564 DrugBank DB00570 http://www.drugbank.ca/drugs/DB00570 DrugBank DB00571 http://www.drugbank.ca/drugs/DB00571 DrugBank DB00575 http://www.drugbank.ca/drugs/DB00575 DrugBank DB00584 http://www.drugbank.ca/drugs/DB00584 DrugBank DB00585 http://www.drugbank.ca/drugs/DB00585 DrugBank DB00586 http://www.drugbank.ca/drugs/DB00586 DrugBank DB00590 http://www.drugbank.ca/drugs/DB00590 DrugBank DB00602 http://www.drugbank.ca/drugs/DB00602 DrugBank DB00608 http://www.drugbank.ca/drugs/DB00608 DrugBank DB00619 http://www.drugbank.ca/drugs/DB00619 DrugBank DB00622 http://www.drugbank.ca/drugs/DB00622 DrugBank DB00623 http://www.drugbank.ca/drugs/DB00623 DrugBank DB00624 http://www.drugbank.ca/drugs/DB00624 DrugBank DB00635 http://www.drugbank.ca/drugs/DB00635 DrugBank DB00637 http://www.drugbank.ca/drugs/DB00637 DrugBank DB00641 http://www.drugbank.ca/drugs/DB00641 DrugBank DB00643 http://www.drugbank.ca/drugs/DB00643 DrugBank DB00655 http://www.drugbank.ca/drugs/DB00655 DrugBank DB00656 http://www.drugbank.ca/drugs/DB00656 DrugBank DB00661 http://www.drugbank.ca/drugs/DB00661 DrugBank DB00669 http://www.drugbank.ca/drugs/DB00669 DrugBank DB00672 http://www.drugbank.ca/drugs/DB00672 DrugBank DB00675 http://www.drugbank.ca/drugs/DB00675 DrugBank DB00678 http://www.drugbank.ca/drugs/DB00678 DrugBank DB00683 http://www.drugbank.ca/drugs/DB00683 DrugBank DB00688 http://www.drugbank.ca/drugs/DB00688 DrugBank DB00690 http://www.drugbank.ca/drugs/DB00690 DrugBank DB00694 http://www.drugbank.ca/drugs/DB00694 DrugBank DB00696 http://www.drugbank.ca/drugs/DB00696 DrugBank DB00701 http://www.drugbank.ca/drugs/DB00701 DrugBank DB00704 http://www.drugbank.ca/drugs/DB00704 DrugBank DB00709 http://www.drugbank.ca/drugs/DB00709 DrugBank DB00715 http://www.drugbank.ca/drugs/DB00715 DrugBank DB00717 http://www.drugbank.ca/drugs/DB00717 DrugBank DB00722 http://www.drugbank.ca/drugs/DB00722 DrugBank DB00726 http://www.drugbank.ca/drugs/DB00726 DrugBank DB00734 http://www.drugbank.ca/drugs/DB00734 DrugBank DB00741 http://www.drugbank.ca/drugs/DB00741 DrugBank DB00742 http://www.drugbank.ca/drugs/DB00742 DrugBank DB00747 http://www.drugbank.ca/drugs/DB00747 DrugBank DB00751 http://www.drugbank.ca/drugs/DB00751 DrugBank DB00758 http://www.drugbank.ca/drugs/DB00758 DrugBank DB00762 http://www.drugbank.ca/drugs/DB00762 DrugBank DB00773 http://www.drugbank.ca/drugs/DB00773 DrugBank DB00778 http://www.drugbank.ca/drugs/DB00778 DrugBank DB00783 http://www.drugbank.ca/drugs/DB00783 DrugBank DB00790 http://www.drugbank.ca/drugs/DB00790 DrugBank DB00796 http://www.drugbank.ca/drugs/DB00796 DrugBank DB00802 http://www.drugbank.ca/drugs/DB00802 DrugBank DB00810 http://www.drugbank.ca/drugs/DB00810 DrugBank DB00813 http://www.drugbank.ca/drugs/DB00813 DrugBank DB00829 http://www.drugbank.ca/drugs/DB00829 DrugBank DB00831 http://www.drugbank.ca/drugs/DB00831 DrugBank DB00834 http://www.drugbank.ca/drugs/DB00834 DrugBank DB00836 http://www.drugbank.ca/drugs/DB00836 DrugBank DB00845 http://www.drugbank.ca/drugs/DB00845 DrugBank DB00860 http://www.drugbank.ca/drugs/DB00860 DrugBank DB00863 http://www.drugbank.ca/drugs/DB00863 DrugBank DB00864 http://www.drugbank.ca/drugs/DB00864 DrugBank DB00875 http://www.drugbank.ca/drugs/DB00875 DrugBank DB00877 http://www.drugbank.ca/drugs/DB00877 DrugBank DB00882 http://www.drugbank.ca/drugs/DB00882 DrugBank DB00908 http://www.drugbank.ca/drugs/DB00908 DrugBank DB00915 http://www.drugbank.ca/drugs/DB00915 DrugBank DB00921 http://www.drugbank.ca/drugs/DB00921 DrugBank DB00934 http://www.drugbank.ca/drugs/DB00934 DrugBank DB00936 http://www.drugbank.ca/drugs/DB00936 DrugBank DB00945 http://www.drugbank.ca/drugs/DB00945 DrugBank DB00950 http://www.drugbank.ca/drugs/DB00950 DrugBank DB00959 http://www.drugbank.ca/drugs/DB00959 DrugBank DB00966 http://www.drugbank.ca/drugs/DB00966 DrugBank DB00967 http://www.drugbank.ca/drugs/DB00967 DrugBank DB00970 http://www.drugbank.ca/drugs/DB00970 DrugBank DB00972 http://www.drugbank.ca/drugs/DB00972 DrugBank DB00973 http://www.drugbank.ca/drugs/DB00973 DrugBank DB00975 http://www.drugbank.ca/drugs/DB00975 DrugBank DB00977 http://www.drugbank.ca/drugs/DB00977 DrugBank DB00997 http://www.drugbank.ca/drugs/DB00997 DrugBank DB01016 http://www.drugbank.ca/drugs/DB01016 DrugBank DB01023 http://www.drugbank.ca/drugs/DB01023 DrugBank DB01026 http://www.drugbank.ca/drugs/DB01026 DrugBank DB01030 http://www.drugbank.ca/drugs/DB01030 DrugBank DB01032 http://www.drugbank.ca/drugs/DB01032 DrugBank DB01037 http://www.drugbank.ca/drugs/DB01037 DrugBank DB01045 http://www.drugbank.ca/drugs/DB01045 DrugBank DB01050 http://www.drugbank.ca/drugs/DB01050 DrugBank DB01054 http://www.drugbank.ca/drugs/DB01054 DrugBank DB01069 http://www.drugbank.ca/drugs/DB01069 DrugBank DB01072 http://www.drugbank.ca/drugs/DB01072 DrugBank DB01076 http://www.drugbank.ca/drugs/DB01076 DrugBank DB01086 http://www.drugbank.ca/drugs/DB01086 DrugBank DB01100 http://www.drugbank.ca/drugs/DB01100 DrugBank DB01103 http://www.drugbank.ca/drugs/DB01103 DrugBank DB01104 http://www.drugbank.ca/drugs/DB01104 DrugBank DB01110 http://www.drugbank.ca/drugs/DB01110 DrugBank DB01115 http://www.drugbank.ca/drugs/DB01115 DrugBank DB01118 http://www.drugbank.ca/drugs/DB01118 DrugBank DB01136 http://www.drugbank.ca/drugs/DB01136 DrugBank DB01137 http://www.drugbank.ca/drugs/DB01137 DrugBank DB01138 http://www.drugbank.ca/drugs/DB01138 DrugBank DB01142 http://www.drugbank.ca/drugs/DB01142 DrugBank DB01149 http://www.drugbank.ca/drugs/DB01149 DrugBank DB01151 http://www.drugbank.ca/drugs/DB01151 DrugBank DB01162 http://www.drugbank.ca/drugs/DB01162 DrugBank DB01167 http://www.drugbank.ca/drugs/DB01167 DrugBank DB01169 http://www.drugbank.ca/drugs/DB01169 DrugBank DB01174 http://www.drugbank.ca/drugs/DB01174 DrugBank DB01182 http://www.drugbank.ca/drugs/DB01182 DrugBank DB01183 http://www.drugbank.ca/drugs/DB01183 DrugBank DB01184 http://www.drugbank.ca/drugs/DB01184 DrugBank DB01193 http://www.drugbank.ca/drugs/DB01193 DrugBank DB01196 http://www.drugbank.ca/drugs/DB01196 DrugBank DB01197 http://www.drugbank.ca/drugs/DB01197 DrugBank DB01200 http://www.drugbank.ca/drugs/DB01200 DrugBank DB01202 http://www.drugbank.ca/drugs/DB01202 DrugBank DB01203 http://www.drugbank.ca/drugs/DB01203 DrugBank DB01204 http://www.drugbank.ca/drugs/DB01204 DrugBank DB01208 http://www.drugbank.ca/drugs/DB01208 DrugBank DB01211 http://www.drugbank.ca/drugs/DB01211 DrugBank DB01221 http://www.drugbank.ca/drugs/DB01221 DrugBank DB01224 http://www.drugbank.ca/drugs/DB01224 DrugBank DB01229 http://www.drugbank.ca/drugs/DB01229 DrugBank DB01232 http://www.drugbank.ca/drugs/DB01232 DrugBank DB01234 http://www.drugbank.ca/drugs/DB01234 DrugBank DB01239 http://www.drugbank.ca/drugs/DB01239 DrugBank DB01242 http://www.drugbank.ca/drugs/DB01242 DrugBank DB01244 http://www.drugbank.ca/drugs/DB01244 DrugBank DB01248 http://www.drugbank.ca/drugs/DB01248 DrugBank DB01253 http://www.drugbank.ca/drugs/DB01253 DrugBank DB01254 http://www.drugbank.ca/drugs/DB01254 DrugBank DB01259 http://www.drugbank.ca/drugs/DB01259 DrugBank DB01261 http://www.drugbank.ca/drugs/DB01261 DrugBank DB01263 http://www.drugbank.ca/drugs/DB01263 DrugBank DB01268 http://www.drugbank.ca/drugs/DB01268 DrugBank DB01339 http://www.drugbank.ca/drugs/DB01339 DrugBank DB01340 http://www.drugbank.ca/drugs/DB01340 DrugBank DB01361 http://www.drugbank.ca/drugs/DB01361 DrugBank DB01394 http://www.drugbank.ca/drugs/DB01394 DrugBank DB01396 http://www.drugbank.ca/drugs/DB01396 DrugBank DB01400 http://www.drugbank.ca/drugs/DB01400 DrugBank DB01583 http://www.drugbank.ca/drugs/DB01583 DrugBank DB01587 http://www.drugbank.ca/drugs/DB01587 DrugBank DB01595 http://www.drugbank.ca/drugs/DB01595 DrugBank DB01601 http://www.drugbank.ca/drugs/DB01601 DrugBank DB02659 http://www.drugbank.ca/drugs/DB02659 DrugBank DB04573 http://www.drugbank.ca/drugs/DB04573 DrugBank DB04840 http://www.drugbank.ca/drugs/DB04840 DrugBank DB04855 http://www.drugbank.ca/drugs/DB04855 DrugBank DB04868 http://www.drugbank.ca/drugs/DB04868 DrugBank DB04877 http://www.drugbank.ca/drugs/DB04877 DrugBank DB05039 http://www.drugbank.ca/drugs/DB05039 DrugBank DB05239 http://www.drugbank.ca/drugs/DB05239 DrugBank DB05521 http://www.drugbank.ca/drugs/DB05521 DrugBank DB05773 http://www.drugbank.ca/drugs/DB05773 DrugBank DB06176 http://www.drugbank.ca/drugs/DB06176 DrugBank DB06207 http://www.drugbank.ca/drugs/DB06207 DrugBank DB06212 http://www.drugbank.ca/drugs/DB06212 DrugBank DB06228 http://www.drugbank.ca/drugs/DB06228 DrugBank DB06287 http://www.drugbank.ca/drugs/DB06287 DrugBank DB06290 http://www.drugbank.ca/drugs/DB06290 DrugBank DB06292 http://www.drugbank.ca/drugs/DB06292 DrugBank DB06403 http://www.drugbank.ca/drugs/DB06403 DrugBank DB06414 http://www.drugbank.ca/drugs/DB06414 DrugBank DB06589 http://www.drugbank.ca/drugs/DB06589 DrugBank DB06603 http://www.drugbank.ca/drugs/DB06603 DrugBank DB06605 http://www.drugbank.ca/drugs/DB06605 DrugBank DB06616 http://www.drugbank.ca/drugs/DB06616 DrugBank DB06626 http://www.drugbank.ca/drugs/DB06626 DrugBank DB06636 http://www.drugbank.ca/drugs/DB06636 DrugBank DB06695 http://www.drugbank.ca/drugs/DB06695 DrugBank DB06702 http://www.drugbank.ca/drugs/DB06702 DrugBank DB06772 http://www.drugbank.ca/drugs/DB06772 DrugBank DB08816 http://www.drugbank.ca/drugs/DB08816 DrugBank DB08820 http://www.drugbank.ca/drugs/DB08820 DrugBank DB08827 http://www.drugbank.ca/drugs/DB08827 DrugBank DB08828 http://www.drugbank.ca/drugs/DB08828 DrugBank DB08860 http://www.drugbank.ca/drugs/DB08860 DrugBank DB08864 http://www.drugbank.ca/drugs/DB08864 DrugBank DB08865 http://www.drugbank.ca/drugs/DB08865 DrugBank DB08867 http://www.drugbank.ca/drugs/DB08867 DrugBank DB08870 http://www.drugbank.ca/drugs/DB08870 DrugBank DB08873 http://www.drugbank.ca/drugs/DB08873 DrugBank DB08874 http://www.drugbank.ca/drugs/DB08874 DrugBank DB08882 http://www.drugbank.ca/drugs/DB08882 DrugBank DB08889 http://www.drugbank.ca/drugs/DB08889 DrugBank DB08893 http://www.drugbank.ca/drugs/DB08893 DrugBank DB08896 http://www.drugbank.ca/drugs/DB08896 DrugBank DB08899 http://www.drugbank.ca/drugs/DB08899 DrugBank DB08901 http://www.drugbank.ca/drugs/DB08901 DrugBank DB08906 http://www.drugbank.ca/drugs/DB08906 DrugBank DB08907 http://www.drugbank.ca/drugs/DB08907 DrugBank DB08910 http://www.drugbank.ca/drugs/DB08910 DrugBank DB08912 http://www.drugbank.ca/drugs/DB08912 DrugBank DB08916 http://www.drugbank.ca/drugs/DB08916 DrugBank DB08918 http://www.drugbank.ca/drugs/DB08918 DrugBank DB08934 http://www.drugbank.ca/drugs/DB08934 DrugBank DB09054 http://www.drugbank.ca/drugs/DB09054 DrugBank DB09063 http://www.drugbank.ca/drugs/DB09063 DrugBank DB09065 http://www.drugbank.ca/drugs/DB09065 DrugBank DB09075 http://www.drugbank.ca/drugs/DB09075 DrugBank DB09076 http://www.drugbank.ca/drugs/DB09076 DrugBank DB09078 http://www.drugbank.ca/drugs/DB09078 DrugBank DB09079 http://www.drugbank.ca/drugs/DB09079 DrugBank DB09102 http://www.drugbank.ca/drugs/DB09102 DrugBank DB09291 http://www.drugbank.ca/drugs/DB09291 DrugBank DB09330 http://www.drugbank.ca/drugs/DB09330 DrugBank DB11362 http://www.drugbank.ca/drugs/DB11362 DrugBank DB11363 http://www.drugbank.ca/drugs/DB11363 EC_number EC:3.6.3.44 http://www.genome.jp/dbget-bin/www_bget?EC:3.6.3.44 EMBL AC002457 http://www.ebi.ac.uk/ena/data/view/AC002457 EMBL AC005068 http://www.ebi.ac.uk/ena/data/view/AC005068 EMBL AF016535 http://www.ebi.ac.uk/ena/data/view/AF016535 EMBL AK290159 http://www.ebi.ac.uk/ena/data/view/AK290159 EMBL AY910577 http://www.ebi.ac.uk/ena/data/view/AY910577 EMBL EU854148 http://www.ebi.ac.uk/ena/data/view/EU854148 EMBL M14758 http://www.ebi.ac.uk/ena/data/view/M14758 EMBL M29424 http://www.ebi.ac.uk/ena/data/view/M29424 EMBL M29425 http://www.ebi.ac.uk/ena/data/view/M29425 EMBL M29426 http://www.ebi.ac.uk/ena/data/view/M29426 EMBL M29427 http://www.ebi.ac.uk/ena/data/view/M29427 EMBL M29428 http://www.ebi.ac.uk/ena/data/view/M29428 EMBL M29429 http://www.ebi.ac.uk/ena/data/view/M29429 EMBL M29430 http://www.ebi.ac.uk/ena/data/view/M29430 EMBL M29431 http://www.ebi.ac.uk/ena/data/view/M29431 EMBL M29432 http://www.ebi.ac.uk/ena/data/view/M29432 EMBL M29433 http://www.ebi.ac.uk/ena/data/view/M29433 EMBL M29434 http://www.ebi.ac.uk/ena/data/view/M29434 EMBL M29435 http://www.ebi.ac.uk/ena/data/view/M29435 EMBL M29436 http://www.ebi.ac.uk/ena/data/view/M29436 EMBL M29437 http://www.ebi.ac.uk/ena/data/view/M29437 EMBL M29438 http://www.ebi.ac.uk/ena/data/view/M29438 EMBL M29439 http://www.ebi.ac.uk/ena/data/view/M29439 EMBL M29440 http://www.ebi.ac.uk/ena/data/view/M29440 EMBL M29441 http://www.ebi.ac.uk/ena/data/view/M29441 EMBL M29442 http://www.ebi.ac.uk/ena/data/view/M29442 EMBL M29443 http://www.ebi.ac.uk/ena/data/view/M29443 EMBL M29444 http://www.ebi.ac.uk/ena/data/view/M29444 EMBL M29445 http://www.ebi.ac.uk/ena/data/view/M29445 EMBL M29446 http://www.ebi.ac.uk/ena/data/view/M29446 EMBL M29447 http://www.ebi.ac.uk/ena/data/view/M29447 EMBL M37724 http://www.ebi.ac.uk/ena/data/view/M37724 EMBL M37725 http://www.ebi.ac.uk/ena/data/view/M37725 EMBL X58723 http://www.ebi.ac.uk/ena/data/view/X58723 ENZYME 3.6.3.44 http://enzyme.expasy.org/EC/3.6.3.44 Ensembl ENST00000265724 http://www.ensembl.org/id/ENST00000265724 Ensembl ENST00000543898 http://www.ensembl.org/id/ENST00000543898 Ensembl ENST00000622132 http://www.ensembl.org/id/ENST00000622132 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0009986 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009986 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0005215 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005215 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0008559 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008559 GO_function GO:0042626 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042626 GO_function GO:0090554 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090554 GO_function GO:0090555 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090555 GO_function GO:0099038 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0099038 GO_process GO:0000086 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000086 GO_process GO:0002481 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002481 GO_process GO:0002485 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002485 GO_process GO:0002489 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002489 GO_process GO:0002591 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002591 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0042493 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042493 GO_process GO:0045332 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045332 GO_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GO_process GO:0072089 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0072089 GO_process GO:0099040 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0099040 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0002376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002376 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0008283 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008283 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GOslim_process GO:0061024 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061024 Gene3D 3.40.50.300 http://www.cathdb.info/version/latest/superfamily/3.40.50.300 GeneCards ABCB1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ABCB1 GeneID 5243 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=5243 GeneTree ENSGT00530000062896 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000062896 H-InvDB HIX0033521 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0033521 HGNC HGNC:40 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:40 HOVERGEN HBG080809 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG080809&db=HOVERGEN HPA CAB001716 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB001716 HPA HPA002199 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA002199 InParanoid P08183 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P08183 IntAct P08183 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P08183* IntEnz 3.6.3.44 http://www.ebi.ac.uk/intenz/query?cmd=Search&q=3.6.3.44 InterPro IPR003439 http://www.ebi.ac.uk/interpro/entry/IPR003439 InterPro IPR003593 http://www.ebi.ac.uk/interpro/entry/IPR003593 InterPro IPR011527 http://www.ebi.ac.uk/interpro/entry/IPR011527 InterPro IPR017871 http://www.ebi.ac.uk/interpro/entry/IPR017871 InterPro IPR027417 http://www.ebi.ac.uk/interpro/entry/IPR027417 Jabion 5243 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=5243 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Brite ko04090 http://www.genome.jp/dbget-bin/www_bget?ko04090 KEGG_Disease H01529 http://www.genome.jp/dbget-bin/www_bget?H01529 KEGG_Gene hsa:5243 http://www.genome.jp/dbget-bin/www_bget?hsa:5243 KEGG_Orthology KO:K05658 http://www.genome.jp/dbget-bin/www_bget?KO:K05658 KEGG_Pathway ko02010 http://www.genome.jp/kegg-bin/show_pathway?ko02010 KEGG_Pathway ko04976 http://www.genome.jp/kegg-bin/show_pathway?ko04976 MIM 171050 http://www.ncbi.nlm.nih.gov/omim/171050 MIM 612244 http://www.ncbi.nlm.nih.gov/omim/612244 MINT MINT-5000901 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-5000901 OMA SQGQDRK http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=SQGQDRK Orphanet 771 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=771 OrthoDB EOG091G0HVA http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0HVA PROSITE PS00211 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00211 PROSITE PS50893 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50893 PROSITE PS50929 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50929 PSORT swissprot:MDR1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:MDR1_HUMAN PSORT-B swissprot:MDR1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:MDR1_HUMAN PSORT2 swissprot:MDR1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:MDR1_HUMAN Pfam PF00005 http://pfam.xfam.org/family/PF00005 Pfam PF00664 http://pfam.xfam.org/family/PF00664 PharmGKB PA267 http://www.pharmgkb.org/do/serve?objId=PA267&objCls=Gene Phobius swissprot:MDR1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:MDR1_HUMAN PhylomeDB P08183 http://phylomedb.org/?seqid=P08183 ProteinModelPortal P08183 http://www.proteinmodelportal.org/query/uniprot/P08183 PubMed 10716719 http://www.ncbi.nlm.nih.gov/pubmed/10716719 PubMed 10790226 http://www.ncbi.nlm.nih.gov/pubmed/10790226 PubMed 11240981 http://www.ncbi.nlm.nih.gov/pubmed/11240981 PubMed 11258197 http://www.ncbi.nlm.nih.gov/pubmed/11258197 PubMed 11829140 http://www.ncbi.nlm.nih.gov/pubmed/11829140 PubMed 12853948 http://www.ncbi.nlm.nih.gov/pubmed/12853948 PubMed 14610718 http://www.ncbi.nlm.nih.gov/pubmed/14610718 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15488952 http://www.ncbi.nlm.nih.gov/pubmed/15488952 PubMed 15618700 http://www.ncbi.nlm.nih.gov/pubmed/15618700 PubMed 15618713 http://www.ncbi.nlm.nih.gov/pubmed/15618713 PubMed 16959974 http://www.ncbi.nlm.nih.gov/pubmed/16959974 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 1967175 http://www.ncbi.nlm.nih.gov/pubmed/1967175 PubMed 1972623 http://www.ncbi.nlm.nih.gov/pubmed/1972623 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 24333728 http://www.ncbi.nlm.nih.gov/pubmed/24333728 PubMed 2568832 http://www.ncbi.nlm.nih.gov/pubmed/2568832 PubMed 2876781 http://www.ncbi.nlm.nih.gov/pubmed/2876781 PubMed 2897240 http://www.ncbi.nlm.nih.gov/pubmed/2897240 PubMed 9038218 http://www.ncbi.nlm.nih.gov/pubmed/9038218 PubMed 9473242 http://www.ncbi.nlm.nih.gov/pubmed/9473242 Reactome R-HSA-2161517 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2161517 Reactome R-HSA-382556 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-382556 RefSeq NP_000918 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000918 SMART SM00382 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00382 SMR P08183 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P08183 STRING 9606.ENSP00000265724 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000265724&targetmode=cogs SUPFAM SSF52540 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52540 SUPFAM SSF90123 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF90123 TCDB 3.A.1.201 http://www.tcdb.org/search/result.php?tc=3.A.1.201 UCSC uc003uiz http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003uiz&org=rat UniGene Hs.489033 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.489033 UniGene Hs.689936 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.689936 UniGene Hs.737655 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.737655 UniProtKB MDR1_HUMAN http://www.uniprot.org/uniprot/MDR1_HUMAN UniProtKB-AC P08183 http://www.uniprot.org/uniprot/P08183 charge swissprot:MDR1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:MDR1_HUMAN eggNOG COG1132 http://eggnogapi.embl.de/nog_data/html/tree/COG1132 eggNOG KOG0055 http://eggnogapi.embl.de/nog_data/html/tree/KOG0055 epestfind swissprot:MDR1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:MDR1_HUMAN garnier swissprot:MDR1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:MDR1_HUMAN helixturnhelix swissprot:MDR1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:MDR1_HUMAN hmoment swissprot:MDR1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:MDR1_HUMAN iep swissprot:MDR1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:MDR1_HUMAN inforesidue swissprot:MDR1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:MDR1_HUMAN neXtProt NX_P08183 http://www.nextprot.org/db/entry/NX_P08183 octanol swissprot:MDR1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:MDR1_HUMAN pepcoil swissprot:MDR1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:MDR1_HUMAN pepdigest swissprot:MDR1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:MDR1_HUMAN pepinfo swissprot:MDR1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:MDR1_HUMAN pepnet swissprot:MDR1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:MDR1_HUMAN pepstats swissprot:MDR1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:MDR1_HUMAN pepwheel swissprot:MDR1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:MDR1_HUMAN pepwindow swissprot:MDR1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:MDR1_HUMAN sigcleave swissprot:MDR1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:MDR1_HUMAN ## Database ID URL or Descriptions # AltName MOT8_HUMAN Monocarboxylate transporter 7 # AltName MOT8_HUMAN Solute carrier family 16 member 2 # AltName MOT8_HUMAN X-linked PEST-containing transporter # BioGrid 112455 4 # CDD cd06174 MFS # ChiTaRS SLC16A2 human # DISEASE MOT8_HUMAN Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM 300523] Consists of a severe form of X-linked psychomotor retardation combined with abnormal thyroid hormone (TH) levels. Thyroid hormone deficiency can be caused by defects of hormone synthesis and action, but it has also been linked to a defect in cellular hormone transport. Affected patients are males with abnormal relative concentrations of three circulating iodothyronines, as well as severe neurological abnormalities, including global developmental delay, central hypotonia, spastic quadriplegia, dystonic movements, rotary nystagmus, and impaired gaze and hearing. Heterozygous females had a milder thyroid phenotype and no neurological defects. {ECO 0000269|PubMed 14661163, ECO 0000269|PubMed 15488219, ECO 0000269|PubMed 15889350, ECO 0000269|PubMed 18636565, ECO 0000269|PubMed 23550058, ECO 0000269|PubMed 25527620, ECO 0000269|PubMed 26426690, ECO 0000269|Ref.8}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DrugBank DB00119 Pyruvic acid # DrugBank DB00135 L-Tyrosine # DrugBank DB00149 L-Leucine # DrugBank DB00150 L-Tryptophan # DrugBank DB00451 Levothyroxine # DrugBank DB01583 Liotrix # Ensembl ENST00000587091 ENSP00000465734; ENSG00000147100 # ExpressionAtlas P36021 baseline and differential # FUNCTION MOT8_HUMAN Very active and specific thyroid hormone transporter. Stimulates cellular uptake of thyroxine (T4), triiodothyronine (T3), reverse triiodothyronine (rT3) and diidothyronine. Does not transport Leu, Phe, Trp or Tyr. {ECO 0000269|PubMed 23550058, ECO 0000269|PubMed 26426690}. # GO_component GO:0005887 integral component of plasma membrane; IDA:UniProtKB. # GO_function GO:0005215 transporter activity; TAS:ProtInc. # GO_function GO:0008028 monocarboxylic acid transmembrane transporter activity; TAS:ProtInc. # GO_function GO:0015293 symporter activity; IEA:UniProtKB-KW. # GO_function GO:0015349 thyroid hormone transmembrane transporter activity; IMP:UniProtKB. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0015718 monocarboxylic acid transport; TAS:ProtInc. # GO_process GO:0070327 thyroid hormone transport; IMP:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # Genevisible P36021 HS # HGNC HGNC:10923 SLC16A2 # InterPro IPR011701 MFS # InterPro IPR020846 MFS_dom # InterPro IPR030761 MCT8 # KEGG_Brite ko02000 Transporters # KEGG_Brite ko02001 Solute carrier family # KEGG_Disease H00650 [Endocrine disease; Mental retardation] Monocarboxylate transporter 8 deficiency # MIM 300095 gene # MIM 300523 phenotype # MISCELLANEOUS Abnormal brain development associated with MCT8 deficiency may be the consequence of either decreased or increased intracellular T3 concentrations. {ECO:0000269|PubMed 18636565}. # Organism MOT8_HUMAN Homo sapiens (Human) # Orphanet 59 Allan-Herndon-Dudley syndrome # PANTHER PTHR11360:SF123 PTHR11360:SF123 # PIR I39295 I39295 # PROSITE PS50850 MFS # Pfam PF07690 MFS_1 # Proteomes UP000005640 Chromosome X # Reactome R-HSA-879518 Transport of organic anions # RecName MOT8_HUMAN Monocarboxylate transporter 8 # RefSeq NP_006508 NM_006517.4 # SEQUENCE CAUTION Sequence=AAB60374.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAB60375.1; Type=Erroneous gene model prediction; Evidence={ECO 0000305}; # SIMILARITY Belongs to the major facilitator superfamily. Monocarboxylate porter (TC 2.A.1.13) family. {ECO 0000305}. # SUBCELLULAR LOCATION MOT8_HUMAN Cell membrane {ECO 0000269|PubMed 23550058, ECO 0000269|PubMed 25527620, ECO 0000269|PubMed 26426690}; Multi- pass membrane protein {ECO 0000269|PubMed 23550058, ECO 0000269|PubMed 25527620}. # SUBUNIT MOT8_HUMAN Homodimer. {ECO 0000269|PubMed 19797118, ECO 0000269|PubMed 25527620}. # SUPFAM SSF103473 SSF103473 # TCDB 2.A.1.13.10 the major facilitator superfamily (mfs) # TISSUE SPECIFICITY Highly expressed in liver and heart. {ECO:0000269|PubMed 7981683}. # UCSC uc031tjy human # eggNOG ENOG410IMVZ Eukaryota # eggNOG ENOG410Z4JM LUCA BLAST swissprot:MOT8_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:MOT8_HUMAN BioCyc ZFISH:ENSG00000147100-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000147100-MONOMER COXPRESdb 6567 http://coxpresdb.jp/data/gene/6567.shtml CleanEx HS_SLC16A2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC16A2 DOI 10.1002/humu.20808 http://dx.doi.org/10.1002/humu.20808 DOI 10.1016/S0140-6736(04)17226-7 http://dx.doi.org/10.1016/S0140-6736(04)17226-7 DOI 10.1021/ac9004309 http://dx.doi.org/10.1021/ac9004309 DOI 10.1038/ejhg.2008.66 http://dx.doi.org/10.1038/ejhg.2008.66 DOI 10.1038/nature03440 http://dx.doi.org/10.1038/nature03440 DOI 10.1074/mcp.M111.015131 http://dx.doi.org/10.1074/mcp.M111.015131 DOI 10.1086/380999 http://dx.doi.org/10.1086/380999 DOI 10.1086/431313 http://dx.doi.org/10.1086/431313 DOI 10.1093/hmg/3.7.1133 http://dx.doi.org/10.1093/hmg/3.7.1133 DOI 10.1210/en.2009-0699 http://dx.doi.org/10.1210/en.2009-0699 DOI 10.1210/en.2012-2225 http://dx.doi.org/10.1210/en.2012-2225 DOI 10.1210/me.2012-1356 http://dx.doi.org/10.1210/me.2012-1356 DOI 10.1371/journal.pone.0139343 http://dx.doi.org/10.1371/journal.pone.0139343 DOI 10.1530/JME-14-0272 http://dx.doi.org/10.1530/JME-14-0272 DrugBank DB00119 http://www.drugbank.ca/drugs/DB00119 DrugBank DB00135 http://www.drugbank.ca/drugs/DB00135 DrugBank DB00149 http://www.drugbank.ca/drugs/DB00149 DrugBank DB00150 http://www.drugbank.ca/drugs/DB00150 DrugBank DB00451 http://www.drugbank.ca/drugs/DB00451 DrugBank DB01583 http://www.drugbank.ca/drugs/DB01583 EMBL AB085789 http://www.ebi.ac.uk/ena/data/view/AB085789 EMBL AC004073 http://www.ebi.ac.uk/ena/data/view/AC004073 EMBL AL157934 http://www.ebi.ac.uk/ena/data/view/AL157934 EMBL U05315 http://www.ebi.ac.uk/ena/data/view/U05315 EMBL U05316 http://www.ebi.ac.uk/ena/data/view/U05316 EMBL U05317 http://www.ebi.ac.uk/ena/data/view/U05317 EMBL U05318 http://www.ebi.ac.uk/ena/data/view/U05318 EMBL U05319 http://www.ebi.ac.uk/ena/data/view/U05319 EMBL U05320 http://www.ebi.ac.uk/ena/data/view/U05320 EMBL U05321 http://www.ebi.ac.uk/ena/data/view/U05321 Ensembl ENST00000587091 http://www.ensembl.org/id/ENST00000587091 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0005215 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005215 GO_function GO:0008028 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008028 GO_function GO:0015293 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015293 GO_function GO:0015349 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015349 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0015718 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015718 GO_process GO:0070327 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070327 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GeneCards SLC16A2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC16A2 GeneID 6567 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6567 GeneTree ENSGT00740000115479 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00740000115479 H-InvDB HIX0056105 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0056105 HGNC HGNC:10923 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10923 HOVERGEN HBG006387 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG006387&db=HOVERGEN HPA CAB021892 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB021892 InParanoid P36021 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P36021 InterPro IPR011701 http://www.ebi.ac.uk/interpro/entry/IPR011701 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 InterPro IPR030761 http://www.ebi.ac.uk/interpro/entry/IPR030761 Jabion 6567 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6567 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Disease H00650 http://www.genome.jp/dbget-bin/www_bget?H00650 KEGG_Gene hsa:6567 http://www.genome.jp/dbget-bin/www_bget?hsa:6567 KEGG_Orthology KO:K08231 http://www.genome.jp/dbget-bin/www_bget?KO:K08231 MIM 300095 http://www.ncbi.nlm.nih.gov/omim/300095 MIM 300523 http://www.ncbi.nlm.nih.gov/omim/300523 OMA IKQTWVL http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=IKQTWVL Orphanet 59 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=59 OrthoDB EOG091G0449 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0449 PANTHER PTHR11360:SF123 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11360:SF123 PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PSORT swissprot:MOT8_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:MOT8_HUMAN PSORT-B swissprot:MOT8_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:MOT8_HUMAN PSORT2 swissprot:MOT8_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:MOT8_HUMAN Pfam PF07690 http://pfam.xfam.org/family/PF07690 PharmGKB PA35814 http://www.pharmgkb.org/do/serve?objId=PA35814&objCls=Gene Phobius swissprot:MOT8_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:MOT8_HUMAN PhylomeDB P36021 http://phylomedb.org/?seqid=P36021 ProteinModelPortal P36021 http://www.proteinmodelportal.org/query/uniprot/P36021 PubMed 14661163 http://www.ncbi.nlm.nih.gov/pubmed/14661163 PubMed 15488219 http://www.ncbi.nlm.nih.gov/pubmed/15488219 PubMed 15772651 http://www.ncbi.nlm.nih.gov/pubmed/15772651 PubMed 15889350 http://www.ncbi.nlm.nih.gov/pubmed/15889350 PubMed 18398436 http://www.ncbi.nlm.nih.gov/pubmed/18398436 PubMed 18636565 http://www.ncbi.nlm.nih.gov/pubmed/18636565 PubMed 19413330 http://www.ncbi.nlm.nih.gov/pubmed/19413330 PubMed 19797118 http://www.ncbi.nlm.nih.gov/pubmed/19797118 PubMed 22223895 http://www.ncbi.nlm.nih.gov/pubmed/22223895 PubMed 23550058 http://www.ncbi.nlm.nih.gov/pubmed/23550058 PubMed 23610131 http://www.ncbi.nlm.nih.gov/pubmed/23610131 PubMed 25527620 http://www.ncbi.nlm.nih.gov/pubmed/25527620 PubMed 26426690 http://www.ncbi.nlm.nih.gov/pubmed/26426690 PubMed 7981683 http://www.ncbi.nlm.nih.gov/pubmed/7981683 Reactome R-HSA-879518 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-879518 RefSeq NP_006508 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_006508 STRING 9606.ENSP00000276033 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000276033&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.1.13.10 http://www.tcdb.org/search/result.php?tc=2.A.1.13.10 UCSC uc031tjy http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc031tjy&org=rat UniGene Hs.75317 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.75317 UniProtKB MOT8_HUMAN http://www.uniprot.org/uniprot/MOT8_HUMAN UniProtKB-AC P36021 http://www.uniprot.org/uniprot/P36021 charge swissprot:MOT8_HUMAN http://rest.g-language.org/emboss/charge/swissprot:MOT8_HUMAN eggNOG ENOG410IMVZ http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IMVZ eggNOG ENOG410Z4JM http://eggnogapi.embl.de/nog_data/html/tree/ENOG410Z4JM epestfind swissprot:MOT8_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:MOT8_HUMAN garnier swissprot:MOT8_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:MOT8_HUMAN helixturnhelix swissprot:MOT8_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:MOT8_HUMAN hmoment swissprot:MOT8_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:MOT8_HUMAN iep swissprot:MOT8_HUMAN http://rest.g-language.org/emboss/iep/swissprot:MOT8_HUMAN inforesidue swissprot:MOT8_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:MOT8_HUMAN neXtProt NX_P36021 http://www.nextprot.org/db/entry/NX_P36021 octanol swissprot:MOT8_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:MOT8_HUMAN pepcoil swissprot:MOT8_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:MOT8_HUMAN pepdigest swissprot:MOT8_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:MOT8_HUMAN pepinfo swissprot:MOT8_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:MOT8_HUMAN pepnet swissprot:MOT8_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:MOT8_HUMAN pepstats swissprot:MOT8_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:MOT8_HUMAN pepwheel swissprot:MOT8_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:MOT8_HUMAN pepwindow swissprot:MOT8_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:MOT8_HUMAN sigcleave swissprot:MOT8_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:MOT8_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS MCLN3_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8TDD5-1; Sequence=Displayed; Name=2; IsoId=Q8TDD5-2; Sequence=VSP_010823; # BioGrid 120571 57 # CCDS CCDS58009 -. [Q8TDD5-2] # CCDS CCDS701 -. [Q8TDD5-1] # Ensembl ENST00000341115 ENSP00000342698; ENSG00000055732. [Q8TDD5-2] # Ensembl ENST00000370589 ENSP00000359621; ENSG00000055732. [Q8TDD5-1] # ExpressionAtlas Q8TDD5 baseline and differential # GO_component GO:0005737 cytoplasm; IEA:Ensembl. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0005262 calcium channel activity; TAS:Reactome. # GO_process GO:0007626 locomotory behavior; IEA:Ensembl. # GO_process GO:0042491 auditory receptor cell differentiation; IEA:Ensembl. # GO_process GO:0070588 calcium ion transmembrane transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0008150 biological_process # GOslim_process GO:0030154 cell differentiation # GOslim_process GO:0055085 transmembrane transport # Genevisible Q8TDD5 HS # HGNC HGNC:13358 MCOLN3 # InterPro IPR013122 PKD1_2_channel # KEGG_Brite ko04040 Ion channels # MIM 607400 gene # Organism MCLN3_HUMAN Homo sapiens (Human) # Pfam PF08016 PKD_channel # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-3295583 TRP channels # RecName MCLN3_HUMAN Mucolipin-3 # RefSeq NP_001240622 NM_001253693.1. [Q8TDD5-2] # RefSeq NP_060768 NM_018298.10. [Q8TDD5-1] # RefSeq XP_005271060 XM_005271003.1. [Q8TDD5-1] # RefSeq XP_006710813 XM_006710750.1. [Q8TDD5-1] # SIMILARITY Belongs to the transient receptor (TC 1.A.4) family. Polycystin subfamily. MCOLN3 sub-subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION MCLN3_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # TCDB 1.A.5.3 the polycystin cation channel (pcc) family # UCSC uc001dkp human. [Q8TDD5-1] # eggNOG ENOG410Z1HH LUCA # eggNOG KOG3733 Eukaryota BLAST swissprot:MCLN3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:MCLN3_HUMAN COXPRESdb 55283 http://coxpresdb.jp/data/gene/55283.shtml CleanEx HS_MCOLN3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_MCOLN3 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 EMBL AF475085 http://www.ebi.ac.uk/ena/data/view/AF475085 EMBL AK001868 http://www.ebi.ac.uk/ena/data/view/AK001868 EMBL AL358789 http://www.ebi.ac.uk/ena/data/view/AL358789 EMBL AL358789 http://www.ebi.ac.uk/ena/data/view/AL358789 Ensembl ENST00000341115 http://www.ensembl.org/id/ENST00000341115 Ensembl ENST00000370589 http://www.ensembl.org/id/ENST00000370589 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005262 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005262 GO_process GO:0007626 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007626 GO_process GO:0042491 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042491 GO_process GO:0070588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070588 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0030154 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030154 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards MCOLN3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=MCOLN3 GeneID 55283 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=55283 GeneTree ENSGT00390000017126 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000017126 HGNC HGNC:13358 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:13358 HOGENOM HOG000232158 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000232158&db=HOGENOM6 HOVERGEN HBG052430 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052430&db=HOVERGEN HPA HPA018106 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA018106 HPA HPA062137 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA062137 InParanoid Q8TDD5 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8TDD5 IntAct Q8TDD5 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q8TDD5* InterPro IPR013122 http://www.ebi.ac.uk/interpro/entry/IPR013122 Jabion 55283 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=55283 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:55283 http://www.genome.jp/dbget-bin/www_bget?hsa:55283 KEGG_Orthology KO:K04994 http://www.genome.jp/dbget-bin/www_bget?KO:K04994 MIM 607400 http://www.ncbi.nlm.nih.gov/omim/607400 OMA ETECFFV http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=ETECFFV OrthoDB EOG091G026A http://cegg.unige.ch/orthodb/results?searchtext=EOG091G026A PSORT swissprot:MCLN3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:MCLN3_HUMAN PSORT-B swissprot:MCLN3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:MCLN3_HUMAN PSORT2 swissprot:MCLN3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:MCLN3_HUMAN Pfam PF08016 http://pfam.xfam.org/family/PF08016 PharmGKB PA134947324 http://www.pharmgkb.org/do/serve?objId=PA134947324&objCls=Gene Phobius swissprot:MCLN3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:MCLN3_HUMAN PhylomeDB Q8TDD5 http://phylomedb.org/?seqid=Q8TDD5 ProteinModelPortal Q8TDD5 http://www.proteinmodelportal.org/query/uniprot/Q8TDD5 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 Reactome R-HSA-3295583 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-3295583 RefSeq NP_001240622 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001240622 RefSeq NP_060768 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_060768 RefSeq XP_005271060 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005271060 RefSeq XP_006710813 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006710813 STRING 9606.ENSP00000304843 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000304843&targetmode=cogs TCDB 1.A.5.3 http://www.tcdb.org/search/result.php?tc=1.A.5.3 UCSC uc001dkp http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001dkp&org=rat UniGene Hs.535239 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.535239 UniProtKB MCLN3_HUMAN http://www.uniprot.org/uniprot/MCLN3_HUMAN UniProtKB-AC Q8TDD5 http://www.uniprot.org/uniprot/Q8TDD5 charge swissprot:MCLN3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:MCLN3_HUMAN eggNOG ENOG410Z1HH http://eggnogapi.embl.de/nog_data/html/tree/ENOG410Z1HH eggNOG KOG3733 http://eggnogapi.embl.de/nog_data/html/tree/KOG3733 epestfind swissprot:MCLN3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:MCLN3_HUMAN garnier swissprot:MCLN3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:MCLN3_HUMAN helixturnhelix swissprot:MCLN3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:MCLN3_HUMAN hmoment swissprot:MCLN3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:MCLN3_HUMAN iep swissprot:MCLN3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:MCLN3_HUMAN inforesidue swissprot:MCLN3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:MCLN3_HUMAN neXtProt NX_Q8TDD5 http://www.nextprot.org/db/entry/NX_Q8TDD5 octanol swissprot:MCLN3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:MCLN3_HUMAN pepcoil swissprot:MCLN3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:MCLN3_HUMAN pepdigest swissprot:MCLN3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:MCLN3_HUMAN pepinfo swissprot:MCLN3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:MCLN3_HUMAN pepnet swissprot:MCLN3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:MCLN3_HUMAN pepstats swissprot:MCLN3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:MCLN3_HUMAN pepwheel swissprot:MCLN3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:MCLN3_HUMAN pepwindow swissprot:MCLN3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:MCLN3_HUMAN sigcleave swissprot:MCLN3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:MCLN3_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS AP1S1_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P61966-1, Q00382-1; Sequence=Displayed; Name=2; IsoId=P61966-2, Q00382-2; Sequence=VSP_000171; # AltName AP1S1_HUMAN Adaptor protein complex AP-1 subunit sigma-1A # AltName AP1S1_HUMAN Adaptor-related protein complex 1 subunit sigma-1A # AltName AP1S1_HUMAN Clathrin assembly protein complex 1 sigma-1A small chain # AltName AP1S1_HUMAN Clathrin coat assembly protein AP19 # AltName AP1S1_HUMAN Golgi adaptor HA1/AP1 adaptin sigma-1A subunit # AltName AP1S1_HUMAN HA1 19 kDa subunit # AltName AP1S1_HUMAN Sigma 1a subunit of AP-1 clathrin # AltName AP1S1_HUMAN Sigma-adaptin 1A # AltName AP1S1_HUMAN Sigma1A-adaptin # BioGrid 107588 19 # ChiTaRS AP1S1 human # DISEASE AP1S1_HUMAN Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma (MEDNIK) [MIM 609313] A disorder characterized by erythematous skin lesions and hyperkeratosis, severe psychomotor retardation, peripheral neuropathy, sensorineural hearing loss, together with elevated very-long-chain fatty acids and severe congenital diarrhea. {ECO 0000269|PubMed 19057675}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000337619 ENSP00000336666; ENSG00000106367. [P61966-1] # Ensembl ENST00000443943 ENSP00000410780; ENSG00000106367. [P61966-1] # ExpressionAtlas P61966 baseline and differential # FUNCTION AP1S1_HUMAN Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. {ECO 0000269|PubMed 9733768}. # GO_component GO:0000139 Golgi membrane; TAS:Reactome. # GO_component GO:0005765 lysosomal membrane; TAS:Reactome. # GO_component GO:0005794 Golgi apparatus; IDA:HPA. # GO_component GO:0005829 cytosol; TAS:Reactome. # GO_component GO:0005905 clathrin-coated pit; IEA:UniProtKB-SubCell. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0030121 AP-1 adaptor complex; TAS:UniProtKB. # GO_component GO:0030659 cytoplasmic vesicle membrane; TAS:Reactome. # GO_component GO:0030669 clathrin-coated endocytic vesicle membrane; TAS:Reactome. # GO_component GO:0032588 trans-Golgi network membrane; TAS:Reactome. # GO_component GO:0043195 terminal bouton; IEA:Ensembl. # GO_component GO:0043231 intracellular membrane-bounded organelle; IDA:HPA. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0008565 protein transporter activity; IEA:InterPro. # GO_process GO:0006886 intracellular protein transport; IEA:InterPro. # GO_process GO:0006898 receptor-mediated endocytosis; TAS:UniProtKB. # GO_process GO:0009615 response to virus; IEP:UniProtKB. # GO_process GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II; TAS:Reactome. # GO_process GO:0042147 retrograde transport, endosome to Golgi; IEA:Ensembl. # GO_process GO:0050690 regulation of defense response to virus by virus; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005794 Golgi apparatus # GOslim_component GO:0005829 cytosol # GOslim_component GO:0043226 organelle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0008565 protein transporter activity # GOslim_process GO:0002376 immune system process # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0016192 vesicle-mediated transport # GOslim_process GO:0044403 symbiosis, encompassing mutualism through parasitism # Genevisible P61966 HS # HGNC HGNC:559 AP1S1 # INDUCTION Up-regulated in response to enterovirus 71 (EV71) infection. {ECO:0000269|PubMed 16548883}. # IntAct P61966 5 # InterPro IPR000804 Clathrin_sm-chain_CS # InterPro IPR011012 Longin-like_dom # InterPro IPR016635 AP_complex_ssu # InterPro IPR022775 AP_mu_sigma_su # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Pathway ko04142 Lysosome # MIM 603531 gene # MIM 609313 phenotype # Organism AP1S1_HUMAN Homo sapiens (Human) # Orphanet 171851 MEDNIK syndrome # PANTHER PTHR11753 PTHR11753 # PDB 4P6Z X-ray; 3.00 A; S=1-158 # PIRSF PIRSF015588 AP_complex_sigma # PROSITE PS00989 CLAT_ADAPTOR_S # Pfam PF01217 Clat_adaptor_s # Proteomes UP000005640 Chromosome 7 # Reactome R-HSA-164940 Nef mediated downregulation of MHC class I complex cell surface expression # Reactome R-HSA-2132295 MHC class II antigen presentation # Reactome R-HSA-432720 Lysosome Vesicle Biogenesis # Reactome R-HSA-432722 Golgi Associated Vesicle Biogenesis # RecName AP1S1_HUMAN AP-1 complex subunit sigma-1A # RefSeq NP_001274 NM_001283.3. [P61966-1] # SEQUENCE CAUTION Sequence=AAD45829.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the adaptor complexes small subunit family. {ECO 0000305}. # SUBCELLULAR LOCATION AP1S1_HUMAN Golgi apparatus {ECO 0000269|PubMed 9733768}. Cytoplasmic vesicle membrane {ECO 0000269|PubMed 9733768}; Peripheral membrane protein {ECO 0000269|PubMed 9733768}; Cytoplasmic side {ECO 0000269|PubMed 9733768}. Membrane, clathrin-coated pit {ECO 0000269|PubMed 9733768}. Note=Component of the coat surrounding the cytoplasmic face of coated vesicles located at the Golgi complex. # SUBUNIT AP1S1_HUMAN Adaptor protein complex 1 (AP-1) is a heterotetramer composed of two large adaptins (gamma-type subunit AP1G1 and beta- type subunit AP1B1), a medium adaptin (mu-type subunit AP1M1 or AP1M2) and a small adaptin (sigma-type subunit AP1S1 or AP1S2 or AP1S3). # SUPFAM SSF64356 SSF64356 # TISSUE SPECIFICITY Widely expressed. {ECO:0000269|PubMed 9733768}. # UCSC uc003uxv human # eggNOG COG5030 LUCA # eggNOG KOG0934 Eukaryota BLAST swissprot:AP1S1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:AP1S1_HUMAN BioCyc ZFISH:ENSG00000106367-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000106367-MONOMER COXPRESdb 1174 http://coxpresdb.jp/data/gene/1174.shtml CleanEx HS_AP1S1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_AP1S1 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1016/j.molcel.2008.07.007 http://dx.doi.org/10.1016/j.molcel.2008.07.007 DOI 10.1021/ac9004309 http://dx.doi.org/10.1021/ac9004309 DOI 10.1038/nature01782 http://dx.doi.org/10.1038/nature01782 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.273.38.24693 http://dx.doi.org/10.1074/jbc.273.38.24693 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1462-5822.2005.00644.x http://dx.doi.org/10.1111/j.1462-5822.2005.00644.x DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DOI 10.1371/journal.pgen.1000296 http://dx.doi.org/10.1371/journal.pgen.1000296 EMBL AB015319 http://www.ebi.ac.uk/ena/data/view/AB015319 EMBL AC004876 http://www.ebi.ac.uk/ena/data/view/AC004876 EMBL AK312151 http://www.ebi.ac.uk/ena/data/view/AK312151 EMBL BC003561 http://www.ebi.ac.uk/ena/data/view/BC003561 EMBL BT006779 http://www.ebi.ac.uk/ena/data/view/BT006779 EMBL CH471197 http://www.ebi.ac.uk/ena/data/view/CH471197 Ensembl ENST00000337619 http://www.ensembl.org/id/ENST00000337619 Ensembl ENST00000443943 http://www.ensembl.org/id/ENST00000443943 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000139 GO_component GO:0005765 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005765 GO_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0005905 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005905 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0030121 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030121 GO_component GO:0030659 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030659 GO_component GO:0030669 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030669 GO_component GO:0032588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032588 GO_component GO:0043195 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043195 GO_component GO:0043231 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043231 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GO_process GO:0006886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006886 GO_process GO:0006898 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006898 GO_process GO:0009615 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009615 GO_process GO:0019886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019886 GO_process GO:0042147 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042147 GO_process GO:0050690 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050690 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_process GO:0002376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002376 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0016192 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016192 GOslim_process GO:0044403 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044403 GeneCards AP1S1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=AP1S1 GeneID 1174 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=1174 GeneTree ENSGT00530000062839 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000062839 HGNC HGNC:559 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:559 HOVERGEN HBG050517 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050517&db=HOVERGEN HPA HPA060945 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA060945 InParanoid P61966 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P61966 IntAct P61966 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P61966* InterPro IPR000804 http://www.ebi.ac.uk/interpro/entry/IPR000804 InterPro IPR011012 http://www.ebi.ac.uk/interpro/entry/IPR011012 InterPro IPR016635 http://www.ebi.ac.uk/interpro/entry/IPR016635 InterPro IPR022775 http://www.ebi.ac.uk/interpro/entry/IPR022775 Jabion 1174 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=1174 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Gene hsa:1174 http://www.genome.jp/dbget-bin/www_bget?hsa:1174 KEGG_Orthology KO:K12394 http://www.genome.jp/dbget-bin/www_bget?KO:K12394 KEGG_Pathway ko04142 http://www.genome.jp/kegg-bin/show_pathway?ko04142 MIM 603531 http://www.ncbi.nlm.nih.gov/omim/603531 MIM 609313 http://www.ncbi.nlm.nih.gov/omim/609313 MINT MINT-5006039 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-5006039 Orphanet 171851 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=171851 PANTHER PTHR11753 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11753 PDB 4P6Z http://www.ebi.ac.uk/pdbe-srv/view/entry/4P6Z PDBsum 4P6Z http://www.ebi.ac.uk/pdbsum/4P6Z PROSITE PS00989 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00989 PSORT swissprot:AP1S1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:AP1S1_HUMAN PSORT-B swissprot:AP1S1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:AP1S1_HUMAN PSORT2 swissprot:AP1S1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:AP1S1_HUMAN Pfam PF01217 http://pfam.xfam.org/family/PF01217 PharmGKB PA24850 http://www.pharmgkb.org/do/serve?objId=PA24850&objCls=Gene Phobius swissprot:AP1S1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:AP1S1_HUMAN PhylomeDB P61966 http://phylomedb.org/?seqid=P61966 ProteinModelPortal P61966 http://www.proteinmodelportal.org/query/uniprot/P61966 PubMed 12853948 http://www.ncbi.nlm.nih.gov/pubmed/12853948 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16548883 http://www.ncbi.nlm.nih.gov/pubmed/16548883 PubMed 18691976 http://www.ncbi.nlm.nih.gov/pubmed/18691976 PubMed 19057675 http://www.ncbi.nlm.nih.gov/pubmed/19057675 PubMed 19413330 http://www.ncbi.nlm.nih.gov/pubmed/19413330 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 9733768 http://www.ncbi.nlm.nih.gov/pubmed/9733768 Reactome R-HSA-164940 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-164940 Reactome R-HSA-2132295 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2132295 Reactome R-HSA-432720 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-432720 Reactome R-HSA-432722 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-432722 RefSeq NP_001274 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001274 SMR P61966 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P61966 STRING 9606.ENSP00000336666 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000336666&targetmode=cogs SUPFAM SSF64356 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF64356 UCSC uc003uxv http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003uxv&org=rat UniGene Hs.489365 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.489365 UniProtKB AP1S1_HUMAN http://www.uniprot.org/uniprot/AP1S1_HUMAN UniProtKB-AC P61966 http://www.uniprot.org/uniprot/P61966 charge swissprot:AP1S1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:AP1S1_HUMAN eggNOG COG5030 http://eggnogapi.embl.de/nog_data/html/tree/COG5030 eggNOG KOG0934 http://eggnogapi.embl.de/nog_data/html/tree/KOG0934 epestfind swissprot:AP1S1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:AP1S1_HUMAN garnier swissprot:AP1S1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:AP1S1_HUMAN helixturnhelix swissprot:AP1S1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:AP1S1_HUMAN hmoment swissprot:AP1S1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:AP1S1_HUMAN iep swissprot:AP1S1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:AP1S1_HUMAN inforesidue swissprot:AP1S1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:AP1S1_HUMAN neXtProt NX_P61966 http://www.nextprot.org/db/entry/NX_P61966 octanol swissprot:AP1S1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:AP1S1_HUMAN pepcoil swissprot:AP1S1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:AP1S1_HUMAN pepdigest swissprot:AP1S1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:AP1S1_HUMAN pepinfo swissprot:AP1S1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:AP1S1_HUMAN pepnet swissprot:AP1S1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:AP1S1_HUMAN pepstats swissprot:AP1S1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:AP1S1_HUMAN pepwheel swissprot:AP1S1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:AP1S1_HUMAN pepwindow swissprot:AP1S1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:AP1S1_HUMAN sigcleave swissprot:AP1S1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:AP1S1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS KCJ13_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O60928-1; Sequence=Displayed; Name=2; Synonyms=Kir7.1S; IsoId=O60928-2; Sequence=VSP_042627, VSP_042628; # AltName KCJ13_HUMAN Inward rectifier K(+) channel Kir7.1 # AltName KCJ13_HUMAN Potassium channel, inwardly rectifying subfamily J member 13 # CCDS CCDS2498 -. [O60928-1] # CCDS CCDS54437 -. [O60928-2] # DISEASE KCJ13_HUMAN Leber congenital amaurosis 16 (LCA16) [MIM 614186] A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. {ECO 0000269|PubMed 21763485}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE KCJ13_HUMAN Snowflake vitreoretinal degeneration (SVD) [MIM 193230] Developmental and progressive hereditary eye disorder that affects multiple tissues within the eye. Diagnostic features of SVD include fibrillar degeneration of the vitreous humor, early-onset cataract, minute crystalline deposits in the neurosensory retina, and retinal detachment. {ECO 0000269|PubMed 18179896}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000233826 ENSP00000233826; ENSG00000115474. [O60928-1] # Ensembl ENST00000409779 ENSP00000386408; ENSG00000115474. [O60928-2] # Ensembl ENST00000410029 ENSP00000386251; ENSG00000115474. [O60928-1] # ExpressionAtlas O60928 baseline and differential # FUNCTION KCJ13_HUMAN Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. KCNJ13 has a very low single channel conductance, low sensitivity to block by external barium and cesium, and no dependence of its inward rectification properties on the internal blocking particle magnesium. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_function GO:0005242 inward rectifier potassium channel activity; NAS:UniProtKB. # GO_process GO:0006813 potassium ion transport; NAS:UniProtKB. # GO_process GO:0010107 potassium ion import; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0055085 transmembrane transport # Gene3D 2.60.40.1400 -; 1. # Genevisible O60928 HS # HGNC HGNC:6259 KCNJ13 # InterPro IPR008062 KCNJ13 # InterPro IPR013518 K_chnl_inward-rec_Kir_cyto # InterPro IPR014756 Ig_E-set # InterPro IPR016449 K_chnl_inward-rec_Kir # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00805 [Nervous system disease; Eye disease] Autosomal dominant vitreoretinochoroidopathy (ADVIRC) # KEGG_Disease H00837 [Nervous system disease; Eye disease] Leber congenital amaurosis (LCR) # KEGG_Pathway ko04974 Protein digestion and absorption # MIM 193230 phenotype # MIM 603208 gene # MIM 614186 phenotype # Organism KCJ13_HUMAN Homo sapiens (Human) # Orphanet 65 Leber congenital amaurosis # Orphanet 91496 Snowflake vitreoretinal degeneration # PANTHER PTHR11767 PTHR11767 # PANTHER PTHR11767:SF3 PTHR11767:SF3 # PIRSF PIRSF005465 GIRK_kir # PRINTS PR01320 KIRCHANNEL # PRINTS PR01679 KIR7CHANNEL # PTM KCJ13_HUMAN Phosphorylation at Ser-201 by PKC strongly inhibits ionic currents, while phosphorylation at Ser-287 by PKA increases them. {ECO 0000269|PubMed 18976636}. # Pfam PF01007 IRK # Proteomes UP000005640 Chromosome 2 # RecName KCJ13_HUMAN Inward rectifier potassium channel 13 # RefSeq NP_001165887 NM_001172416.1. [O60928-2] # RefSeq NP_001165888 NM_001172417.1 # RefSeq NP_002233 NM_002242.4. [O60928-1] # SIMILARITY Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ13 subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION KCJ13_HUMAN Membrane; Multi-pass membrane protein. # SUPFAM SSF81296 SSF81296 # TCDB 1.A.2.1 inward rectifier k(+) channel (irk-c) family # TISSUE SPECIFICITY KCJ13_HUMAN Predominantly expressed in small intestine. Expression is also detected in stomach, kidney, and all central nervous system regions tested with the exception of spinal cord. # UCSC uc002vtn human. [O60928-1] # eggNOG ENOG410XQ62 LUCA # eggNOG KOG3827 Eukaryota BLAST swissprot:KCJ13_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCJ13_HUMAN BioCyc ZFISH:ENSG00000115474-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000115474-MONOMER COXPRESdb 3769 http://coxpresdb.jp/data/gene/3769.shtml CleanEx HS_KCNJ13 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNJ13 DOI 10.1006/geno.1998.5598 http://dx.doi.org/10.1006/geno.1998.5598 DOI 10.1016/S0014-5793(98)00972-7 http://dx.doi.org/10.1016/S0014-5793(98)00972-7 DOI 10.1016/S0896-6273(00)80480-8 http://dx.doi.org/10.1016/S0896-6273(00)80480-8 DOI 10.1016/j.ajhg.2007.08.002 http://dx.doi.org/10.1016/j.ajhg.2007.08.002 DOI 10.1016/j.ajhg.2011.06.002 http://dx.doi.org/10.1016/j.ajhg.2011.06.002 DOI 10.1016/j.bbrc.2008.10.110 http://dx.doi.org/10.1016/j.bbrc.2008.10.110 DOI 10.1016/j.exer.2007.09.011 http://dx.doi.org/10.1016/j.exer.2007.09.011 DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AB013889 http://www.ebi.ac.uk/ena/data/view/AB013889 EMBL AB013891 http://www.ebi.ac.uk/ena/data/view/AB013891 EMBL AC064852 http://www.ebi.ac.uk/ena/data/view/AC064852 EMBL AF061118 http://www.ebi.ac.uk/ena/data/view/AF061118 EMBL AF082182 http://www.ebi.ac.uk/ena/data/view/AF082182 EMBL AJ006128 http://www.ebi.ac.uk/ena/data/view/AJ006128 EMBL AJ007557 http://www.ebi.ac.uk/ena/data/view/AJ007557 EMBL AK314019 http://www.ebi.ac.uk/ena/data/view/AK314019 EMBL AY758240 http://www.ebi.ac.uk/ena/data/view/AY758240 EMBL AY758241 http://www.ebi.ac.uk/ena/data/view/AY758241 EMBL BC037290 http://www.ebi.ac.uk/ena/data/view/BC037290 EMBL CH471063 http://www.ebi.ac.uk/ena/data/view/CH471063 Ensembl ENST00000233826 http://www.ensembl.org/id/ENST00000233826 Ensembl ENST00000409779 http://www.ensembl.org/id/ENST00000409779 Ensembl ENST00000410029 http://www.ensembl.org/id/ENST00000410029 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0005242 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005242 GO_process GO:0006813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006813 GO_process GO:0010107 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010107 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 2.60.40.1400 http://www.cathdb.info/version/latest/superfamily/2.60.40.1400 GeneCards KCNJ13 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNJ13 GeneID 3769 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=3769 GeneTree ENSGT00830000128392 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00830000128392 H-InvDB HIX0002929 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0002929 HGNC HGNC:6259 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6259 HOGENOM HOG000237326 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000237326&db=HOGENOM6 HOVERGEN HBG006178 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG006178&db=HOVERGEN HPA CAB033078 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB033078 InParanoid O60928 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O60928 InterPro IPR008062 http://www.ebi.ac.uk/interpro/entry/IPR008062 InterPro IPR013518 http://www.ebi.ac.uk/interpro/entry/IPR013518 InterPro IPR014756 http://www.ebi.ac.uk/interpro/entry/IPR014756 InterPro IPR016449 http://www.ebi.ac.uk/interpro/entry/IPR016449 Jabion 3769 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=3769 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00805 http://www.genome.jp/dbget-bin/www_bget?H00805 KEGG_Disease H00837 http://www.genome.jp/dbget-bin/www_bget?H00837 KEGG_Gene hsa:3769 http://www.genome.jp/dbget-bin/www_bget?hsa:3769 KEGG_Orthology KO:K05006 http://www.genome.jp/dbget-bin/www_bget?KO:K05006 KEGG_Pathway ko04974 http://www.genome.jp/kegg-bin/show_pathway?ko04974 MIM 193230 http://www.ncbi.nlm.nih.gov/omim/193230 MIM 603208 http://www.ncbi.nlm.nih.gov/omim/603208 MIM 614186 http://www.ncbi.nlm.nih.gov/omim/614186 OMA ASFVVHW http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=ASFVVHW Orphanet 65 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=65 Orphanet 91496 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=91496 OrthoDB EOG091G0DOU http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0DOU PANTHER PTHR11767 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11767 PANTHER PTHR11767:SF3 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11767:SF3 PRINTS PR01320 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01320 PRINTS PR01679 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01679 PSORT swissprot:KCJ13_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCJ13_HUMAN PSORT-B swissprot:KCJ13_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCJ13_HUMAN PSORT2 swissprot:KCJ13_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCJ13_HUMAN Pfam PF01007 http://pfam.xfam.org/family/PF01007 PharmGKB PA30044 http://www.pharmgkb.org/do/serve?objId=PA30044&objCls=Gene Phobius swissprot:KCJ13_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCJ13_HUMAN PhylomeDB O60928 http://phylomedb.org/?seqid=O60928 ProteinModelPortal O60928 http://www.proteinmodelportal.org/query/uniprot/O60928 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 PubMed 18035352 http://www.ncbi.nlm.nih.gov/pubmed/18035352 PubMed 18179896 http://www.ncbi.nlm.nih.gov/pubmed/18179896 PubMed 18976636 http://www.ncbi.nlm.nih.gov/pubmed/18976636 PubMed 21763485 http://www.ncbi.nlm.nih.gov/pubmed/21763485 PubMed 9620703 http://www.ncbi.nlm.nih.gov/pubmed/9620703 PubMed 9738472 http://www.ncbi.nlm.nih.gov/pubmed/9738472 PubMed 9878260 http://www.ncbi.nlm.nih.gov/pubmed/9878260 RefSeq NP_001165887 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001165887 RefSeq NP_001165888 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001165888 RefSeq NP_002233 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_002233 SMR O60928 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=O60928 STRING 9606.ENSP00000233826 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000233826&targetmode=cogs SUPFAM SSF81296 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81296 TCDB 1.A.2.1 http://www.tcdb.org/search/result.php?tc=1.A.2.1 UCSC uc002vtn http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002vtn&org=rat UniGene Hs.467338 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.467338 UniProtKB KCJ13_HUMAN http://www.uniprot.org/uniprot/KCJ13_HUMAN UniProtKB-AC O60928 http://www.uniprot.org/uniprot/O60928 charge swissprot:KCJ13_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCJ13_HUMAN eggNOG ENOG410XQ62 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XQ62 eggNOG KOG3827 http://eggnogapi.embl.de/nog_data/html/tree/KOG3827 epestfind swissprot:KCJ13_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCJ13_HUMAN garnier swissprot:KCJ13_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCJ13_HUMAN helixturnhelix swissprot:KCJ13_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCJ13_HUMAN hmoment swissprot:KCJ13_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCJ13_HUMAN iep swissprot:KCJ13_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCJ13_HUMAN inforesidue swissprot:KCJ13_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCJ13_HUMAN neXtProt NX_O60928 http://www.nextprot.org/db/entry/NX_O60928 octanol swissprot:KCJ13_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCJ13_HUMAN pepcoil swissprot:KCJ13_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCJ13_HUMAN pepdigest swissprot:KCJ13_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCJ13_HUMAN pepinfo swissprot:KCJ13_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCJ13_HUMAN pepnet swissprot:KCJ13_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCJ13_HUMAN pepstats swissprot:KCJ13_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCJ13_HUMAN pepwheel swissprot:KCJ13_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCJ13_HUMAN pepwindow swissprot:KCJ13_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCJ13_HUMAN sigcleave swissprot:KCJ13_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCJ13_HUMAN ## Database ID URL or Descriptions # AltName AP1G2_HUMAN Gamma2-adaptin # BioGrid 114420 24 # CAUTION Does not appear to be a subunit of the clathrin- associated adaptor protein complex 1 (AP-1). {ECO 0000305}. # ChiTaRS AP1G2 human # Ensembl ENST00000308724 ENSP00000312442; ENSG00000213983 # Ensembl ENST00000397120 ENSP00000380309; ENSG00000213983 # ExpressionAtlas O75843 baseline and differential # FUNCTION AP1G2_HUMAN May function in protein sorting in late endosomes or multivesucular bodies (MVBs). Involved in MVB-assisted maturation of hepatitis B virus (HBV). {ECO 0000269|PubMed 16867982, ECO 0000269|PubMed 17553870, ECO 0000269|PubMed 9733768}. # GO_component GO:0000139 Golgi membrane; TAS:Reactome. # GO_component GO:0005794 Golgi apparatus; TAS:ProtInc. # GO_component GO:0005798 Golgi-associated vesicle; IDA:UniProtKB. # GO_component GO:0010008 endosome membrane; IEA:UniProtKB-SubCell. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0030121 AP-1 adaptor complex; TAS:UniProtKB. # GO_component GO:0030133 transport vesicle; IDA:UniProtKB. # GO_function GO:0008565 protein transporter activity; IEA:InterPro. # GO_process GO:0006886 intracellular protein transport; IEA:InterPro. # GO_process GO:0016032 viral process; IEA:UniProtKB-KW. # GO_process GO:0016192 vesicle-mediated transport; NAS:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005794 Golgi apparatus # GOslim_component GO:0031410 cytoplasmic vesicle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0008565 protein transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0016192 vesicle-mediated transport # GOslim_process GO:0044403 symbiosis, encompassing mutualism through parasitism # Gene3D 1.25.10.10 -; 1. # Gene3D 2.60.40.1230 -; 1. # Genevisible O75843 HS # HGNC HGNC:556 AP1G2 # INTERACTION AP1G2_HUMAN Q15276 RABEP1; NbExp=2; IntAct=EBI-373637, EBI-447043; # IntAct O75843 14 # InterPro IPR002553 Clathrin/coatomer_adapt-like_N # InterPro IPR008152 Clathrin_a/b/g-adaptin_app_Ig # InterPro IPR008153 Clathrin_g-adaptin_app # InterPro IPR011989 ARM-like # InterPro IPR013041 Coatomer/clathrin_app_Ig-like # InterPro IPR016024 ARM-type_fold # InterPro IPR017107 AP1_complex_gsu # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Pathway ko04142 Lysosome # MIM 603534 gene # Organism AP1G2_HUMAN Homo sapiens (Human) # PDB 2E9G NMR; -; A=662-785 # PDB 2YMT X-ray; 1.80 A; A=665-785 # PDB 3ZHF X-ray; 1.70 A; A=665-785 # PDB 4BCX X-ray; 2.00 A; A=665-785 # PIRSF PIRSF037094 AP1_complex_gamma # PROSITE PS50180 GAE # Pfam PF01602 Adaptin_N # Pfam PF02883 Alpha_adaptinC2 # Proteomes UP000005640 Chromosome 14 # Reactome R-HSA-432720 Lysosome Vesicle Biogenesis # RecName AP1G2_HUMAN AP-1 complex subunit gamma-like 2 # RefSeq NP_003908 NM_003917.4 # RefSeq XP_005268229 XM_005268172.3 # RefSeq XP_005268230 XM_005268173.3 # SEQUENCE CAUTION Sequence=AAC67390.1; Type=Frameshift; Positions=713; Evidence={ECO 0000305}; # SIMILARITY Belongs to the adaptor complexes large subunit family. {ECO 0000305}. # SIMILARITY Contains 1 GAE domain. {ECO:0000255|PROSITE- ProRule PRU00093}. # SMART SM00809 Alpha_adaptinC2 # SUBCELLULAR LOCATION AP1G2_HUMAN Golgi apparatus membrane {ECO 0000269|PubMed 11333915, ECO 0000269|PubMed 9762922}; Peripheral membrane protein; Cytoplasmic side {ECO 0000269|PubMed 11333915}. Cytoplasmic vesicle membrane {ECO 0000269|PubMed 9733768}; Peripheral membrane protein. Endosome membrane {ECO 0000269|PubMed 16867982}; Peripheral membrane protein. Note=Mainly localized to perinuclear vesicular structures (PubMed 9733768). Colocalizes with HBV major surface antigen L and HBV core protein C in CD63-containing compartments (PubMed 16867982). Colocalizes with HBV major surface antigen L to cis-Golgi-like structures (PubMed 11333915). # SUBUNIT AP1G2_HUMAN Probably interacts with AP1S1/Sigma1A-adaptin AP1S2/Sigma1B-adaptin. Probably does not interact with APB1. Interacts with HBV major surface antigen L. Interacts with HBV core protein C in a ubiquitin-dependent manner. Binds ubiquitin. {ECO 0000269|PubMed 11333915, ECO 0000269|PubMed 16867982, ECO 0000269|PubMed 9733768}. # SUPFAM SSF48371 SSF48371 # SUPFAM SSF49348 SSF49348 # TISSUE SPECIFICITY AP1G2_HUMAN Expressed in all but one (skeletal muscle) tissues examined. # UCSC uc001wkl human # eggNOG ENOG410XPKK LUCA # eggNOG KOG1062 Eukaryota BLAST swissprot:AP1G2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:AP1G2_HUMAN BioCyc ZFISH:ENSG00000092051-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000092051-MONOMER COXPRESdb 8906 http://coxpresdb.jp/data/gene/8906.shtml CleanEx HS_AP1G2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_AP1G2 DIP DIP-31185N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-31185N DOI 10.1016/S0014-5793(98)01083-7 http://dx.doi.org/10.1016/S0014-5793(98)01083-7 DOI 10.1073/pnas.1210303109 http://dx.doi.org/10.1073/pnas.1210303109 DOI 10.1074/jbc.273.38.24693 http://dx.doi.org/10.1074/jbc.273.38.24693 DOI 10.1074/jbc.M603517200 http://dx.doi.org/10.1074/jbc.M603517200 DOI 10.1128/JVI.00479-07 http://dx.doi.org/10.1128/JVI.00479-07 DOI 10.1128/JVI.75.11.5343-5351.2001 http://dx.doi.org/10.1128/JVI.75.11.5343-5351.2001 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AB015318 http://www.ebi.ac.uk/ena/data/view/AB015318 EMBL AF068706 http://www.ebi.ac.uk/ena/data/view/AF068706 EMBL CH471078 http://www.ebi.ac.uk/ena/data/view/CH471078 EMBL CH471078 http://www.ebi.ac.uk/ena/data/view/CH471078 EMBL CH471078 http://www.ebi.ac.uk/ena/data/view/CH471078 Ensembl ENST00000308724 http://www.ensembl.org/id/ENST00000308724 Ensembl ENST00000397120 http://www.ensembl.org/id/ENST00000397120 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000139 GO_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GO_component GO:0005798 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005798 GO_component GO:0010008 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010008 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0030121 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030121 GO_component GO:0030133 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030133 GO_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GO_process GO:0006886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006886 GO_process GO:0016032 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016032 GO_process GO:0016192 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016192 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GOslim_component GO:0031410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0016192 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016192 GOslim_process GO:0044403 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044403 Gene3D 1.25.10.10 http://www.cathdb.info/version/latest/superfamily/1.25.10.10 Gene3D 2.60.40.1230 http://www.cathdb.info/version/latest/superfamily/2.60.40.1230 GeneCards AP1G2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=AP1G2 GeneID 8906 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=8906 GeneTree ENSGT00390000012618 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000012618 HGNC HGNC:556 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:556 HOGENOM HOG000210271 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000210271&db=HOGENOM6 HOVERGEN HBG067473 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG067473&db=HOVERGEN HPA HPA004106 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA004106 InParanoid O75843 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O75843 IntAct O75843 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O75843* InterPro IPR002553 http://www.ebi.ac.uk/interpro/entry/IPR002553 InterPro IPR008152 http://www.ebi.ac.uk/interpro/entry/IPR008152 InterPro IPR008153 http://www.ebi.ac.uk/interpro/entry/IPR008153 InterPro IPR011989 http://www.ebi.ac.uk/interpro/entry/IPR011989 InterPro IPR013041 http://www.ebi.ac.uk/interpro/entry/IPR013041 InterPro IPR016024 http://www.ebi.ac.uk/interpro/entry/IPR016024 InterPro IPR017107 http://www.ebi.ac.uk/interpro/entry/IPR017107 Jabion 8906 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=8906 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Gene hsa:8906 http://www.genome.jp/dbget-bin/www_bget?hsa:8906 KEGG_Orthology KO:K12391 http://www.genome.jp/dbget-bin/www_bget?KO:K12391 KEGG_Pathway ko04142 http://www.genome.jp/kegg-bin/show_pathway?ko04142 MIM 603534 http://www.ncbi.nlm.nih.gov/omim/603534 MINT MINT-5005892 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-5005892 OMA NVRAMMQ http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=NVRAMMQ OrthoDB EOG091G01RV http://cegg.unige.ch/orthodb/results?searchtext=EOG091G01RV PDB 2E9G http://www.ebi.ac.uk/pdbe-srv/view/entry/2E9G PDB 2YMT http://www.ebi.ac.uk/pdbe-srv/view/entry/2YMT PDB 3ZHF http://www.ebi.ac.uk/pdbe-srv/view/entry/3ZHF PDB 4BCX http://www.ebi.ac.uk/pdbe-srv/view/entry/4BCX PDBsum 2E9G http://www.ebi.ac.uk/pdbsum/2E9G PDBsum 2YMT http://www.ebi.ac.uk/pdbsum/2YMT PDBsum 3ZHF http://www.ebi.ac.uk/pdbsum/3ZHF PDBsum 4BCX http://www.ebi.ac.uk/pdbsum/4BCX PROSITE PS50180 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50180 PSORT swissprot:AP1G2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:AP1G2_HUMAN PSORT-B swissprot:AP1G2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:AP1G2_HUMAN PSORT2 swissprot:AP1G2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:AP1G2_HUMAN Pfam PF01602 http://pfam.xfam.org/family/PF01602 Pfam PF02883 http://pfam.xfam.org/family/PF02883 PharmGKB PA24846 http://www.pharmgkb.org/do/serve?objId=PA24846&objCls=Gene Phobius swissprot:AP1G2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:AP1G2_HUMAN PhylomeDB O75843 http://phylomedb.org/?seqid=O75843 ProteinModelPortal O75843 http://www.proteinmodelportal.org/query/uniprot/O75843 PubMed 11333915 http://www.ncbi.nlm.nih.gov/pubmed/11333915 PubMed 16867982 http://www.ncbi.nlm.nih.gov/pubmed/16867982 PubMed 17553870 http://www.ncbi.nlm.nih.gov/pubmed/17553870 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 22814378 http://www.ncbi.nlm.nih.gov/pubmed/22814378 PubMed 9733768 http://www.ncbi.nlm.nih.gov/pubmed/9733768 PubMed 9762922 http://www.ncbi.nlm.nih.gov/pubmed/9762922 Reactome R-HSA-432720 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-432720 RefSeq NP_003908 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_003908 RefSeq XP_005268229 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005268229 RefSeq XP_005268230 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005268230 SMART SM00809 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00809 SMR O75843 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=O75843 STRING 9606.ENSP00000312442 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000312442&targetmode=cogs SUPFAM SSF48371 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48371 SUPFAM SSF49348 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF49348 UCSC uc001wkl http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001wkl&org=rat UniGene Hs.343244 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.343244 UniGene Hs.569375 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.569375 UniProtKB AP1G2_HUMAN http://www.uniprot.org/uniprot/AP1G2_HUMAN UniProtKB-AC O75843 http://www.uniprot.org/uniprot/O75843 charge swissprot:AP1G2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:AP1G2_HUMAN eggNOG ENOG410XPKK http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XPKK eggNOG KOG1062 http://eggnogapi.embl.de/nog_data/html/tree/KOG1062 epestfind swissprot:AP1G2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:AP1G2_HUMAN garnier swissprot:AP1G2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:AP1G2_HUMAN helixturnhelix swissprot:AP1G2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:AP1G2_HUMAN hmoment swissprot:AP1G2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:AP1G2_HUMAN iep swissprot:AP1G2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:AP1G2_HUMAN inforesidue swissprot:AP1G2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:AP1G2_HUMAN neXtProt NX_O75843 http://www.nextprot.org/db/entry/NX_O75843 octanol swissprot:AP1G2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:AP1G2_HUMAN pepcoil swissprot:AP1G2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:AP1G2_HUMAN pepdigest swissprot:AP1G2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:AP1G2_HUMAN pepinfo swissprot:AP1G2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:AP1G2_HUMAN pepnet swissprot:AP1G2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:AP1G2_HUMAN pepstats swissprot:AP1G2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:AP1G2_HUMAN pepwheel swissprot:AP1G2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:AP1G2_HUMAN pepwindow swissprot:AP1G2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:AP1G2_HUMAN sigcleave swissprot:AP1G2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:AP1G2_HUMAN ## Database ID URL or Descriptions # AltName BEST2_HUMAN Vitelliform macular dystrophy 2-like protein 1 # Ensembl ENST00000042931 ENSP00000042931; ENSG00000039987 # Ensembl ENST00000549706 ENSP00000448310; ENSG00000039987 # Ensembl ENST00000553030 ENSP00000447203; ENSG00000039987 # ExpressionAtlas Q8NFU1 baseline and differential # FUNCTION BEST2_HUMAN Forms calcium-sensitive chloride channels. Permeable to bicarbonate. {ECO 0000269|PubMed 11904445, ECO 0000269|PubMed 12907679, ECO 0000269|PubMed 18400985}. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0005929 cilium; ISS:HGNC. # GO_component GO:0034707 chloride channel complex; ISS:BHF-UCL. # GO_function GO:0005254 chloride channel activity; IEA:UniProtKB-KW. # GO_process GO:0007608 sensory perception of smell; ISS:HGNC. # GO_process GO:0051899 membrane depolarization; ISS:HGNC. # GO_process GO:1902476 chloride transmembrane transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005929 cilium # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0008150 biological_process # GOslim_process GO:0050877 neurological system process # GOslim_process GO:0055085 transmembrane transport # Genevisible Q8NFU1 HS # HGNC HGNC:17107 BEST2 # InterPro IPR000615 Bestrophin # InterPro IPR021134 Bestrophin/UPF0187 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02000 Transporters # KEGG_Pathway ko04970 Salivary secretion # MIM 607335 gene # Organism BEST2_HUMAN Homo sapiens (Human) # PANTHER PTHR10736 PTHR10736 # Pfam PF01062 Bestrophin # Proteomes UP000005640 Chromosome 19 # Reactome R-HSA-2672351 Stimuli-sensing channels # RecName BEST2_HUMAN Bestrophin-2 # RefSeq NP_060152 NM_017682.2 # RefSeq XP_005260020 XM_005259963.3 # SEQUENCE CAUTION Sequence=BAA90970.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the bestrophin family. {ECO 0000305}. # SUBCELLULAR LOCATION BEST2_HUMAN Cell membrane; Multi-pass membrane protein. # TCDB 1.A.46.1 the anion channel-forming bestrophin (bestrophin) family # TISSUE SPECIFICITY Mainly confined to the retinal pigment epithelium and colon. {ECO:0000269|PubMed 12032738}. # UCSC uc002mux human # eggNOG ENOG410XS3J LUCA # eggNOG KOG3547 Eukaryota BLAST swissprot:BEST2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:BEST2_HUMAN BioCyc ZFISH:ENSG00000039987-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000039987-MONOMER COXPRESdb 54831 http://coxpresdb.jp/data/gene/54831.shtml CleanEx HS_BEST2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_BEST2 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1038/sj.ejhg.5200796 http://dx.doi.org/10.1038/sj.ejhg.5200796 DOI 10.1073/pnas.052692999 http://dx.doi.org/10.1073/pnas.052692999 DOI 10.1074/jbc.M306150200 http://dx.doi.org/10.1074/jbc.M306150200 DOI 10.1152/ajpcell.00398.2007 http://dx.doi.org/10.1152/ajpcell.00398.2007 EMBL AF440756 http://www.ebi.ac.uk/ena/data/view/AF440756 EMBL AK000139 http://www.ebi.ac.uk/ena/data/view/AK000139 EMBL AY515705 http://www.ebi.ac.uk/ena/data/view/AY515705 Ensembl ENST00000042931 http://www.ensembl.org/id/ENST00000042931 Ensembl ENST00000549706 http://www.ensembl.org/id/ENST00000549706 Ensembl ENST00000553030 http://www.ensembl.org/id/ENST00000553030 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0005929 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005929 GO_component GO:0034707 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034707 GO_function GO:0005254 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005254 GO_process GO:0007608 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007608 GO_process GO:0051899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051899 GO_process GO:1902476 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902476 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005929 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005929 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards BEST2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=BEST2 GeneID 54831 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=54831 GeneTree ENSGT00390000002997 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000002997 HGNC HGNC:17107 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:17107 HOGENOM HOG000115678 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000115678&db=HOGENOM6 HOVERGEN HBG044928 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG044928&db=HOVERGEN HPA HPA046229 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA046229 InParanoid Q8NFU1 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8NFU1 InterPro IPR000615 http://www.ebi.ac.uk/interpro/entry/IPR000615 InterPro IPR021134 http://www.ebi.ac.uk/interpro/entry/IPR021134 Jabion 54831 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=54831 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Gene hsa:54831 http://www.genome.jp/dbget-bin/www_bget?hsa:54831 KEGG_Orthology KO:K13879 http://www.genome.jp/dbget-bin/www_bget?KO:K13879 KEGG_Pathway ko04970 http://www.genome.jp/kegg-bin/show_pathway?ko04970 MIM 607335 http://www.ncbi.nlm.nih.gov/omim/607335 OMA DRYWNDS http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=DRYWNDS OrthoDB EOG091G06XO http://cegg.unige.ch/orthodb/results?searchtext=EOG091G06XO PANTHER PTHR10736 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10736 PSORT swissprot:BEST2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:BEST2_HUMAN PSORT-B swissprot:BEST2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:BEST2_HUMAN PSORT2 swissprot:BEST2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:BEST2_HUMAN Pfam PF01062 http://pfam.xfam.org/family/PF01062 PharmGKB PA162377481 http://www.pharmgkb.org/do/serve?objId=PA162377481&objCls=Gene Phobius swissprot:BEST2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:BEST2_HUMAN PhylomeDB Q8NFU1 http://phylomedb.org/?seqid=Q8NFU1 ProteinModelPortal Q8NFU1 http://www.proteinmodelportal.org/query/uniprot/Q8NFU1 PubMed 11904445 http://www.ncbi.nlm.nih.gov/pubmed/11904445 PubMed 12032738 http://www.ncbi.nlm.nih.gov/pubmed/12032738 PubMed 12907679 http://www.ncbi.nlm.nih.gov/pubmed/12907679 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 18400985 http://www.ncbi.nlm.nih.gov/pubmed/18400985 Reactome R-HSA-2672351 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2672351 RefSeq NP_060152 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_060152 RefSeq XP_005260020 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005260020 SMR Q8NFU1 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q8NFU1 STRING 9606.ENSP00000042931 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000042931&targetmode=cogs TCDB 1.A.46.1 http://www.tcdb.org/search/result.php?tc=1.A.46.1 UCSC uc002mux http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002mux&org=rat UniGene Hs.435611 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.435611 UniProtKB BEST2_HUMAN http://www.uniprot.org/uniprot/BEST2_HUMAN UniProtKB-AC Q8NFU1 http://www.uniprot.org/uniprot/Q8NFU1 charge swissprot:BEST2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:BEST2_HUMAN eggNOG ENOG410XS3J http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XS3J eggNOG KOG3547 http://eggnogapi.embl.de/nog_data/html/tree/KOG3547 epestfind swissprot:BEST2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:BEST2_HUMAN garnier swissprot:BEST2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:BEST2_HUMAN helixturnhelix swissprot:BEST2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:BEST2_HUMAN hmoment swissprot:BEST2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:BEST2_HUMAN iep swissprot:BEST2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:BEST2_HUMAN inforesidue swissprot:BEST2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:BEST2_HUMAN neXtProt NX_Q8NFU1 http://www.nextprot.org/db/entry/NX_Q8NFU1 octanol swissprot:BEST2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:BEST2_HUMAN pepcoil swissprot:BEST2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:BEST2_HUMAN pepdigest swissprot:BEST2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:BEST2_HUMAN pepinfo swissprot:BEST2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:BEST2_HUMAN pepnet swissprot:BEST2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:BEST2_HUMAN pepstats swissprot:BEST2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:BEST2_HUMAN pepwheel swissprot:BEST2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:BEST2_HUMAN pepwindow swissprot:BEST2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:BEST2_HUMAN sigcleave swissprot:BEST2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:BEST2_HUMAN ## Database ID URL or Descriptions # CAUTION In contrast to other members of the family, this protein is much shorter and lacks the VWFA domain. Defined as a pseudogene by HGNC. PubMed:10095065 reports that it is expressed and glycosylated in mammalian cells. {ECO 0000305}. # GO_component GO:0005615 extracellular space; TAS:ProtInc. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0034707 chloride channel complex; IEA:UniProtKB-KW. # GO_function GO:0004222 metalloendopeptidase activity; TAS:Reactome. # GO_function GO:0005215 transporter activity; TAS:ProtInc. # GO_function GO:0005244 voltage-gated ion channel activity; IEA:UniProtKB-KW. # GO_function GO:0005254 chloride channel activity; IEA:UniProtKB-KW. # GO_function GO:0005262 calcium channel activity; IEA:UniProtKB-KW. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005615 extracellular space # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0008233 peptidase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0055085 transmembrane transport # HGNC HGNC:2017 CLCA3P # InterPro IPR013642 CLCA # MIM 604337 gene # Organism CLCA3_HUMAN Homo sapiens (Human) # PTM CLCA3_HUMAN N-glycosylated. {ECO 0000269|PubMed 10095065}. # Pfam PF08434 CLCA # Proteomes UP000005640 Unplaced # Reactome R-HSA-2672351 Stimuli-sensing channels # RecName CLCA3_HUMAN Calcium-activated chloride channel regulator family member 3 # SIMILARITY Belongs to the CLCR family. {ECO 0000305}. # SUBCELLULAR LOCATION CLCA3_HUMAN Secreted {ECO 0000269|PubMed 10095065}. # TCDB 1.A.13.1 the epithelial chloride channel (e-clc) family # TISSUE SPECIFICITY Expressed in the lung, trachea, spleen, thymus and mammary gland. {ECO:0000269|PubMed 10095065}. BLAST swissprot:CLCA3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CLCA3_HUMAN BioCyc ZFISH:ENSG00000153923-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000153923-MONOMER DOI 10.1016/S0167-4781(99)00008-1 http://dx.doi.org/10.1016/S0167-4781(99)00008-1 EMBL AF043976 http://www.ebi.ac.uk/ena/data/view/AF043976 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005615 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005615 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0034707 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034707 GO_function GO:0004222 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004222 GO_function GO:0005215 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005215 GO_function GO:0005244 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005244 GO_function GO:0005254 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005254 GO_function GO:0005262 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005262 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005615 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005615 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0008233 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008233 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards CLCA3P http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CLCA3P H-InvDB HIX0028523 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0028523 HGNC HGNC:2017 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:2017 HOVERGEN HBG052848 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052848&db=HOVERGEN InParanoid Q9Y6N3 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9Y6N3 InterPro IPR013642 http://www.ebi.ac.uk/interpro/entry/IPR013642 MIM 604337 http://www.ncbi.nlm.nih.gov/omim/604337 PSORT swissprot:CLCA3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CLCA3_HUMAN PSORT-B swissprot:CLCA3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CLCA3_HUMAN PSORT2 swissprot:CLCA3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CLCA3_HUMAN Pfam PF08434 http://pfam.xfam.org/family/PF08434 Phobius swissprot:CLCA3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CLCA3_HUMAN PhylomeDB Q9Y6N3 http://phylomedb.org/?seqid=Q9Y6N3 ProteinModelPortal Q9Y6N3 http://www.proteinmodelportal.org/query/uniprot/Q9Y6N3 PubMed 10095065 http://www.ncbi.nlm.nih.gov/pubmed/10095065 Reactome R-HSA-2672351 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2672351 TCDB 1.A.13.1 http://www.tcdb.org/search/result.php?tc=1.A.13.1 UniGene Hs.673847 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.673847 UniProtKB CLCA3_HUMAN http://www.uniprot.org/uniprot/CLCA3_HUMAN UniProtKB-AC Q9Y6N3 http://www.uniprot.org/uniprot/Q9Y6N3 charge swissprot:CLCA3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CLCA3_HUMAN epestfind swissprot:CLCA3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CLCA3_HUMAN garnier swissprot:CLCA3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CLCA3_HUMAN helixturnhelix swissprot:CLCA3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CLCA3_HUMAN hmoment swissprot:CLCA3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CLCA3_HUMAN iep swissprot:CLCA3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CLCA3_HUMAN inforesidue swissprot:CLCA3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CLCA3_HUMAN neXtProt NX_Q9Y6N3 http://www.nextprot.org/db/entry/NX_Q9Y6N3 octanol swissprot:CLCA3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CLCA3_HUMAN pepcoil swissprot:CLCA3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CLCA3_HUMAN pepdigest swissprot:CLCA3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CLCA3_HUMAN pepinfo swissprot:CLCA3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CLCA3_HUMAN pepnet swissprot:CLCA3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CLCA3_HUMAN pepstats swissprot:CLCA3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CLCA3_HUMAN pepwheel swissprot:CLCA3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CLCA3_HUMAN pepwindow swissprot:CLCA3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CLCA3_HUMAN sigcleave swissprot:CLCA3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CLCA3_HUMAN ## Database ID URL or Descriptions # AltName COX3_HUMAN Cytochrome c oxidase polypeptide III # BioGrid 110617 7 # CDD cd01665 Cyt_c_Oxidase_III # DISEASE COX3_HUMAN Leber hereditary optic neuropathy (LHON) [MIM 535000] A maternally inherited disease resulting in acute or subacute loss of central vision, due to optic nerve dysfunction. Cardiac conduction defects and neurological defects have also been described in some patients. LHON results from primary mitochondrial DNA mutations affecting the respiratory chain complexes. {ECO 0000269|PubMed 8240356}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE COX3_HUMAN Mitochondrial complex IV deficiency (MT-C4D) [MIM 220110] A disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to severe multisystem disease affecting several tissues and organs. Features include hypertrophic cardiomyopathy, hepatomegaly and liver dysfunction, hypotonia, muscle weakness, exercise intolerance, developmental delay, delayed motor development and mental retardation. Some affected individuals manifest a fatal hypertrophic cardiomyopathy resulting in neonatal death. A subset of patients manifest Leigh syndrome. {ECO 0000269|PubMed 8630495}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE COX3_HUMAN Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS) [MIM 540000] Genetically heterogeneous disorder, characterized by episodic vomiting, seizures, and recurrent cerebral insults resembling strokes and causing hemiparesis, hemianopsia, or cortical blindness. {ECO 0000269|PubMed 18587274, ECO 0000269|PubMed 7496173}. Note=The disease may be caused by mutations affecting the gene represented in this entry. # DISEASE COX3_HUMAN Recurrent myoglobinuria mitochondrial (RM-MT) [MIM 550500] Recurrent myoglobinuria is characterized by recurrent attacks of rhabdomyolysis (necrosis or disintegration of skeletal muscle) associated with muscle pain and weakness, and followed by excretion of myoglobin in the urine. {ECO 0000269|PubMed 8630495}. Note=The gene represented in this entry may be involved in disease pathogenesis. # DrugBank DB02659 Cholic Acid # Ensembl ENST00000362079 ENSP00000354982; ENSG00000198938 # ExpressionAtlas P00414 baseline and differential # FUNCTION COX3_HUMAN Subunits I, II and III form the functional core of the enzyme complex. # GO_component GO:0005743 mitochondrial inner membrane; TAS:Reactome. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0045277 respiratory chain complex IV; IDA:UniProtKB. # GO_function GO:0004129 cytochrome-c oxidase activity; IEA:InterPro. # GO_process GO:0006123 mitochondrial electron transport, cytochrome c to oxygen; TAS:Reactome. # GO_process GO:0008535 respiratory chain complex IV assembly; IMP:UniProtKB. # GO_process GO:0019646 aerobic electron transport chain; IEA:InterPro. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0043234 protein complex # GOslim_function GO:0016491 oxidoreductase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006091 generation of precursor metabolites and energy # GOslim_process GO:0006461 protein complex assembly # Gene3D 1.20.120.80 -; 1. # Genevisible P00414 HS # HGNC HGNC:7422 MT-CO3 # INTERACTION COX3_HUMAN P37840 SNCA; NbExp=3; IntAct=EBI-3932264, EBI-985879; # IntAct P00414 8 # InterPro IPR000298 Cyt_c_oxidase-like_su3 # InterPro IPR013833 Cyt_c_oxidase_su3_a-hlx # InterPro IPR024791 Cyt_c/ubiquinol_Oxase_su3 # InterPro IPR033945 Cyt_c_oxase_su3_dom # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Disease H00068 [Neurodegenerative disease] Leber hereditary optic atrophy (LHON) # KEGG_Disease H01355 [Inherited metabolic disease; Mitochondrial disease] Kearns-Sayre Syndrome # KEGG_Disease H01368:[Inherited metabolic disease; Mitochondrial disease] Leber Hereditary Optic Neuropathy (LHON) [DS H00068] # KEGG_Pathway ko00190 Oxidative phosphorylation # KEGG_Pathway ko04260 Cardiac muscle contraction # KEGG_Pathway ko05010 Alzheimer's disease # KEGG_Pathway ko05012 Parkinson's disease # KEGG_Pathway ko05016 Huntington's disease # MIM 220110 phenotype # MIM 516050 gene # MIM 535000 phenotype # MIM 540000 phenotype # MIM 550500 phenotype # Organism COX3_HUMAN Homo sapiens (Human) # Orphanet 104 Leber hereditary optic neuropathy # Orphanet 254905 Isolated cytochrome C oxidase deficiency # Orphanet 255210 Maternally-inherited Leigh syndrome # Orphanet 550 MELAS # Orphanet 99845 Genetic recurrent myoglobinuria # PANTHER PTHR11403 PTHR11403 # PIR A00482 OTHU3 # PROSITE PS50253 COX3 # Pfam PF00510 COX3 # Proteomes UP000005640 Mitochondrion # Reactome R-HSA-5628897 TP53 Regulates Metabolic Genes # Reactome R-HSA-611105 Respiratory electron transport # RecName COX3_HUMAN Cytochrome c oxidase subunit 3 # RefSeq YP_003024032 NC_012920.1 # SIMILARITY Belongs to the cytochrome c oxidase subunit 3 family. {ECO 0000305}. # SUBCELLULAR LOCATION COX3_HUMAN Mitochondrion inner membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. # SUPFAM SSF81452 SSF81452 # TCDB 3.D.4.11 the proton-translocating cytochrome oxidase (cox) superfamily # eggNOG COG1845 LUCA # eggNOG KOG4664 Eukaryota BLAST swissprot:COX3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:COX3_HUMAN BioCyc ZFISH:HS00028-MONOMER http://biocyc.org/getid?id=ZFISH:HS00028-MONOMER COG COG1845 http://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=COG1845 COXPRESdb 4514 http://coxpresdb.jp/data/gene/4514.shtml DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1006/bbrc.1993.2321 http://dx.doi.org/10.1006/bbrc.1993.2321 DOI 10.1007/BF00206061 http://dx.doi.org/10.1007/BF00206061 DOI 10.1016/0960-8966(94)00079-O http://dx.doi.org/10.1016/0960-8966(94)00079-O DOI 10.1038/290457a0 http://dx.doi.org/10.1038/290457a0 DOI 10.1038/ng0496-410 http://dx.doi.org/10.1038/ng0496-410 DOI 10.1093/nar/26.4.967 http://dx.doi.org/10.1093/nar/26.4.967 DOI 10.1186/1471-2164-7-151 http://dx.doi.org/10.1186/1471-2164-7-151 DOI 10.3858/emm.2008.40.3.354 http://dx.doi.org/10.3858/emm.2008.40.3.354 DrugBank DB02659 http://www.drugbank.ca/drugs/DB02659 EMBL AF004341 http://www.ebi.ac.uk/ena/data/view/AF004341 EMBL DQ654394 http://www.ebi.ac.uk/ena/data/view/DQ654394 EMBL DQ654395 http://www.ebi.ac.uk/ena/data/view/DQ654395 EMBL DQ654396 http://www.ebi.ac.uk/ena/data/view/DQ654396 EMBL DQ654397 http://www.ebi.ac.uk/ena/data/view/DQ654397 EMBL DQ654398 http://www.ebi.ac.uk/ena/data/view/DQ654398 EMBL DQ654399 http://www.ebi.ac.uk/ena/data/view/DQ654399 EMBL DQ654400 http://www.ebi.ac.uk/ena/data/view/DQ654400 EMBL DQ654401 http://www.ebi.ac.uk/ena/data/view/DQ654401 EMBL DQ654402 http://www.ebi.ac.uk/ena/data/view/DQ654402 EMBL DQ654403 http://www.ebi.ac.uk/ena/data/view/DQ654403 EMBL DQ654404 http://www.ebi.ac.uk/ena/data/view/DQ654404 EMBL DQ654405 http://www.ebi.ac.uk/ena/data/view/DQ654405 EMBL DQ654406 http://www.ebi.ac.uk/ena/data/view/DQ654406 EMBL DQ654407 http://www.ebi.ac.uk/ena/data/view/DQ654407 EMBL DQ654408 http://www.ebi.ac.uk/ena/data/view/DQ654408 EMBL DQ654409 http://www.ebi.ac.uk/ena/data/view/DQ654409 EMBL DQ654410 http://www.ebi.ac.uk/ena/data/view/DQ654410 EMBL DQ654411 http://www.ebi.ac.uk/ena/data/view/DQ654411 EMBL DQ654412 http://www.ebi.ac.uk/ena/data/view/DQ654412 EMBL DQ654413 http://www.ebi.ac.uk/ena/data/view/DQ654413 EMBL DQ654414 http://www.ebi.ac.uk/ena/data/view/DQ654414 EMBL DQ654415 http://www.ebi.ac.uk/ena/data/view/DQ654415 EMBL DQ654416 http://www.ebi.ac.uk/ena/data/view/DQ654416 EMBL DQ654417 http://www.ebi.ac.uk/ena/data/view/DQ654417 EMBL DQ654418 http://www.ebi.ac.uk/ena/data/view/DQ654418 EMBL DQ654419 http://www.ebi.ac.uk/ena/data/view/DQ654419 EMBL DQ654420 http://www.ebi.ac.uk/ena/data/view/DQ654420 EMBL DQ654421 http://www.ebi.ac.uk/ena/data/view/DQ654421 EMBL DQ654422 http://www.ebi.ac.uk/ena/data/view/DQ654422 EMBL DQ654423 http://www.ebi.ac.uk/ena/data/view/DQ654423 EMBL DQ654424 http://www.ebi.ac.uk/ena/data/view/DQ654424 EMBL DQ654425 http://www.ebi.ac.uk/ena/data/view/DQ654425 EMBL DQ654426 http://www.ebi.ac.uk/ena/data/view/DQ654426 EMBL DQ654427 http://www.ebi.ac.uk/ena/data/view/DQ654427 EMBL DQ654428 http://www.ebi.ac.uk/ena/data/view/DQ654428 EMBL DQ654429 http://www.ebi.ac.uk/ena/data/view/DQ654429 EMBL DQ654430 http://www.ebi.ac.uk/ena/data/view/DQ654430 EMBL DQ654431 http://www.ebi.ac.uk/ena/data/view/DQ654431 EMBL DQ654432 http://www.ebi.ac.uk/ena/data/view/DQ654432 EMBL DQ654433 http://www.ebi.ac.uk/ena/data/view/DQ654433 EMBL DQ654434 http://www.ebi.ac.uk/ena/data/view/DQ654434 EMBL DQ654435 http://www.ebi.ac.uk/ena/data/view/DQ654435 EMBL DQ654436 http://www.ebi.ac.uk/ena/data/view/DQ654436 EMBL DQ654437 http://www.ebi.ac.uk/ena/data/view/DQ654437 EMBL DQ654438 http://www.ebi.ac.uk/ena/data/view/DQ654438 EMBL DQ654439 http://www.ebi.ac.uk/ena/data/view/DQ654439 EMBL DQ654440 http://www.ebi.ac.uk/ena/data/view/DQ654440 EMBL DQ654441 http://www.ebi.ac.uk/ena/data/view/DQ654441 EMBL DQ654442 http://www.ebi.ac.uk/ena/data/view/DQ654442 EMBL DQ654443 http://www.ebi.ac.uk/ena/data/view/DQ654443 EMBL J01415 http://www.ebi.ac.uk/ena/data/view/J01415 EMBL V00662 http://www.ebi.ac.uk/ena/data/view/V00662 Ensembl ENST00000362079 http://www.ensembl.org/id/ENST00000362079 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0045277 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045277 GO_function GO:0004129 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004129 GO_process GO:0006123 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006123 GO_process GO:0008535 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008535 GO_process GO:0019646 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019646 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0016491 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016491 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006091 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 Gene3D 1.20.120.80 http://www.cathdb.info/version/latest/superfamily/1.20.120.80 GeneCards MT-CO3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=MT-CO3 GeneID 4514 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=4514 GeneTree ENSGT00390000013064 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000013064 H-InvDB HIX0060139 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0060139 HGNC HGNC:7422 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:7422 HOGENOM HOG000264954 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000264954&db=HOGENOM6 HOVERGEN HBG016686 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG016686&db=HOVERGEN HPA HPA042788 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA042788 InParanoid P00414 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P00414 IntAct P00414 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P00414* InterPro IPR000298 http://www.ebi.ac.uk/interpro/entry/IPR000298 InterPro IPR013833 http://www.ebi.ac.uk/interpro/entry/IPR013833 InterPro IPR024791 http://www.ebi.ac.uk/interpro/entry/IPR024791 InterPro IPR033945 http://www.ebi.ac.uk/interpro/entry/IPR033945 Jabion 4514 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=4514 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00002 http://www.genome.jp/dbget-bin/www_bget?ko00002 KEGG_Disease H00068 http://www.genome.jp/dbget-bin/www_bget?H00068 KEGG_Disease H01355 http://www.genome.jp/dbget-bin/www_bget?H01355 KEGG_Disease H01368 http://www.genome.jp/dbget-bin/www_bget?H01368 KEGG_Gene hsa:4514 http://www.genome.jp/dbget-bin/www_bget?hsa:4514 KEGG_Orthology KO:K02262 http://www.genome.jp/dbget-bin/www_bget?KO:K02262 KEGG_Pathway ko00190 http://www.genome.jp/kegg-bin/show_pathway?ko00190 KEGG_Pathway ko04260 http://www.genome.jp/kegg-bin/show_pathway?ko04260 KEGG_Pathway ko05010 http://www.genome.jp/kegg-bin/show_pathway?ko05010 KEGG_Pathway ko05012 http://www.genome.jp/kegg-bin/show_pathway?ko05012 KEGG_Pathway ko05016 http://www.genome.jp/kegg-bin/show_pathway?ko05016 MIM 220110 http://www.ncbi.nlm.nih.gov/omim/220110 MIM 516050 http://www.ncbi.nlm.nih.gov/omim/516050 MIM 535000 http://www.ncbi.nlm.nih.gov/omim/535000 MIM 540000 http://www.ncbi.nlm.nih.gov/omim/540000 MIM 550500 http://www.ncbi.nlm.nih.gov/omim/550500 OMA PWPLTGA http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=PWPLTGA Orphanet 104 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=104 Orphanet 254905 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=254905 Orphanet 255210 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=255210 Orphanet 550 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=550 Orphanet 99845 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=99845 OrthoDB EOG091G0GH8 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0GH8 PANTHER PTHR11403 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11403 PROSITE PS50253 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50253 PSORT swissprot:COX3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:COX3_HUMAN PSORT-B swissprot:COX3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:COX3_HUMAN PSORT2 swissprot:COX3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:COX3_HUMAN Pfam PF00510 http://pfam.xfam.org/family/PF00510 Phobius swissprot:COX3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:COX3_HUMAN PhylomeDB P00414 http://phylomedb.org/?seqid=P00414 ProteinModelPortal P00414 http://www.proteinmodelportal.org/query/uniprot/P00414 PubMed 16776823 http://www.ncbi.nlm.nih.gov/pubmed/16776823 PubMed 1757091 http://www.ncbi.nlm.nih.gov/pubmed/1757091 PubMed 18587274 http://www.ncbi.nlm.nih.gov/pubmed/18587274 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 7219534 http://www.ncbi.nlm.nih.gov/pubmed/7219534 PubMed 7496173 http://www.ncbi.nlm.nih.gov/pubmed/7496173 PubMed 8240356 http://www.ncbi.nlm.nih.gov/pubmed/8240356 PubMed 8630495 http://www.ncbi.nlm.nih.gov/pubmed/8630495 PubMed 9461455 http://www.ncbi.nlm.nih.gov/pubmed/9461455 Reactome R-HSA-5628897 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5628897 Reactome R-HSA-611105 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-611105 RefSeq YP_003024032 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=YP_003024032 SMR P00414 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P00414 STRING 9606.ENSP00000354982 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000354982&targetmode=cogs STRING COG1845 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=COG1845&targetmode=cogs SUPFAM SSF81452 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81452 TCDB 3.D.4.11 http://www.tcdb.org/search/result.php?tc=3.D.4.11 UniProtKB COX3_HUMAN http://www.uniprot.org/uniprot/COX3_HUMAN UniProtKB-AC P00414 http://www.uniprot.org/uniprot/P00414 charge swissprot:COX3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:COX3_HUMAN eggNOG COG1845 http://eggnogapi.embl.de/nog_data/html/tree/COG1845 eggNOG KOG4664 http://eggnogapi.embl.de/nog_data/html/tree/KOG4664 epestfind swissprot:COX3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:COX3_HUMAN garnier swissprot:COX3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:COX3_HUMAN helixturnhelix swissprot:COX3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:COX3_HUMAN hmoment swissprot:COX3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:COX3_HUMAN iep swissprot:COX3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:COX3_HUMAN inforesidue swissprot:COX3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:COX3_HUMAN neXtProt NX_P00414 http://www.nextprot.org/db/entry/NX_P00414 octanol swissprot:COX3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:COX3_HUMAN pepcoil swissprot:COX3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:COX3_HUMAN pepdigest swissprot:COX3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:COX3_HUMAN pepinfo swissprot:COX3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:COX3_HUMAN pepnet swissprot:COX3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:COX3_HUMAN pepstats swissprot:COX3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:COX3_HUMAN pepwheel swissprot:COX3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:COX3_HUMAN pepwindow swissprot:COX3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:COX3_HUMAN sigcleave swissprot:COX3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:COX3_HUMAN ## Database ID URL or Descriptions # AltName QCR6_HUMAN Complex III subunit 6 # AltName QCR6_HUMAN Complex III subunit VIII # AltName QCR6_HUMAN Cytochrome c1 non-heme 11 kDa protein # AltName QCR6_HUMAN Mitochondrial hinge protein # AltName QCR6_HUMAN Ubiquinol-cytochrome c reductase complex 11 kDa protein # BioGrid 113234 42 # ChiTaRS UQCRH human # Ensembl ENST00000311672 ENSP00000309565; ENSG00000173660 # ExpressionAtlas P07919 baseline and differential # FUNCTION QCR6_HUMAN This is a component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex), which is part of the mitochondrial respiratory chain. This protein may mediate formation of the complex between cytochromes c and c1. # GO_component GO:0005739 mitochondrion; IDA:UniProtKB. # GO_component GO:0005743 mitochondrial inner membrane; TAS:Reactome. # GO_component GO:0005746 mitochondrial respiratory chain; TAS:ProtInc. # GO_function GO:0008121 ubiquinol-cytochrome-c reductase activity; TAS:ProtInc. # GO_process GO:0006119 oxidative phosphorylation; TAS:ProtInc. # GO_process GO:0006122 mitochondrial electron transport, ubiquinol to cytochrome c; TAS:Reactome. # GO_process GO:0009060 aerobic respiration; TAS:ProtInc. # GO_process GO:0055114 oxidation-reduction process; TAS:ProtInc. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005739 mitochondrion # GOslim_function GO:0016491 oxidoreductase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006091 generation of precursor metabolites and energy # GOslim_process GO:0008150 biological_process # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0044281 small molecule metabolic process # Gene3D 1.10.287.20 -; 1. # Genevisible P07919 HS # HGNC HGNC:12590 UQCRH # INTERACTION QCR6_HUMAN Q96BM9 ARL8A; NbExp=5; IntAct=EBI-1224427, EBI-4401082; Q96H71 FAM189B; NbExp=3; IntAct=EBI-1224427, EBI-10195448; Q9Y225 RNF24; NbExp=3; IntAct=EBI-1224427, EBI-10195462; # IntAct P07919 10 # InterPro IPR003422 Cyt_b-c1_6 # InterPro IPR023184 Ubol_cytC_Rdtase_hinge_dom # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Pathway ko00190 Oxidative phosphorylation # KEGG_Pathway ko04260 Cardiac muscle contraction # KEGG_Pathway ko05010 Alzheimer's disease # KEGG_Pathway ko05012 Parkinson's disease # KEGG_Pathway ko05016 Huntington's disease # MIM 613844 gene # Organism QCR6_HUMAN Homo sapiens (Human) # PANTHER PTHR15336 PTHR15336 # PIR S00219 S00219 # PIRSF PIRSF000019 Bc1_11K # Pfam PF02320 UCR_hinge # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-611105 Respiratory electron transport # RecName QCR6_HUMAN Cytochrome b-c1 complex subunit 6, mitochondrial # RefSeq NP_005995 NM_006004.3 # SIMILARITY Belongs to the UQCRH/QCR6 family. {ECO 0000305}. # SUBCELLULAR LOCATION QCR6_HUMAN Mitochondrion inner membrane {ECO 0000250|UniProtKB P00127}. # SUBUNIT The bc1 complex contains 11 subunits 3 respiratory subunits (cytochrome b, cytochrome c1 and Rieske/UQCRFS1), 2 core proteins (UQCRC1/QCR1 and UQCRC2/QCR2) and 6 low-molecular weight proteins (UQCRH/QCR6, UQCRB/QCR7, UQCRQ/QCR8, UQCR10/QCR9, UQCR11/QCR10 and a cleavage product of Rieske/UQCRFS1). # SUPFAM SSF81531 SSF81531 # UCSC uc001cpp human # eggNOG ENOG411247S LUCA # eggNOG KOG4763 Eukaryota BLAST swissprot:QCR6_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:QCR6_HUMAN BioCyc ZFISH:HS10708-MONOMER http://biocyc.org/getid?id=ZFISH:HS10708-MONOMER COXPRESdb 7388 http://coxpresdb.jp/data/gene/7388.shtml CleanEx HS_UQCRH http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_UQCRH DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1016/0014-5793(87)80573-2 http://dx.doi.org/10.1016/0014-5793(87)80573-2 DOI 10.1016/j.cell.2006.09.026 http://dx.doi.org/10.1016/j.cell.2006.09.026 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AK311967 http://www.ebi.ac.uk/ena/data/view/AK311967 EMBL AL122001 http://www.ebi.ac.uk/ena/data/view/AL122001 EMBL BC001426 http://www.ebi.ac.uk/ena/data/view/BC001426 EMBL BC001934 http://www.ebi.ac.uk/ena/data/view/BC001934 EMBL BC015177 http://www.ebi.ac.uk/ena/data/view/BC015177 EMBL BC107703 http://www.ebi.ac.uk/ena/data/view/BC107703 EMBL BT007070 http://www.ebi.ac.uk/ena/data/view/BT007070 EMBL CH471059 http://www.ebi.ac.uk/ena/data/view/CH471059 EMBL CH471059 http://www.ebi.ac.uk/ena/data/view/CH471059 EMBL M36647 http://www.ebi.ac.uk/ena/data/view/M36647 EMBL S61826 http://www.ebi.ac.uk/ena/data/view/S61826 EMBL Y00764 http://www.ebi.ac.uk/ena/data/view/Y00764 Ensembl ENST00000311672 http://www.ensembl.org/id/ENST00000311672 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0005746 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005746 GO_function GO:0008121 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008121 GO_process GO:0006119 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006119 GO_process GO:0006122 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006122 GO_process GO:0009060 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009060 GO_process GO:0055114 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055114 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_function GO:0016491 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016491 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006091 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 Gene3D 1.10.287.20 http://www.cathdb.info/version/latest/superfamily/1.10.287.20 GeneCards UQCRH http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=UQCRH GeneID 7388 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=7388 GeneTree ENSGT00390000003860 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000003860 H-InvDB HIX0023863 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0023863 HGNC HGNC:12590 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:12590 HOGENOM HOG000243673 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000243673&db=HOGENOM6 HOVERGEN HBG001487 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG001487&db=HOVERGEN HPA HPA042574 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA042574 InParanoid P07919 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P07919 IntAct P07919 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P07919* InterPro IPR003422 http://www.ebi.ac.uk/interpro/entry/IPR003422 InterPro IPR023184 http://www.ebi.ac.uk/interpro/entry/IPR023184 Jabion 7388 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=7388 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00002 http://www.genome.jp/dbget-bin/www_bget?ko00002 KEGG_Gene hsa:7388 http://www.genome.jp/dbget-bin/www_bget?hsa:7388 KEGG_Orthology KO:K00416 http://www.genome.jp/dbget-bin/www_bget?KO:K00416 KEGG_Pathway ko00190 http://www.genome.jp/kegg-bin/show_pathway?ko00190 KEGG_Pathway ko04260 http://www.genome.jp/kegg-bin/show_pathway?ko04260 KEGG_Pathway ko05010 http://www.genome.jp/kegg-bin/show_pathway?ko05010 KEGG_Pathway ko05012 http://www.genome.jp/kegg-bin/show_pathway?ko05012 KEGG_Pathway ko05016 http://www.genome.jp/kegg-bin/show_pathway?ko05016 MIM 613844 http://www.ncbi.nlm.nih.gov/omim/613844 MINT MINT-3006002 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-3006002 OMA SQTEEDC http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=SQTEEDC OrthoDB EOG091G13DH http://cegg.unige.ch/orthodb/results?searchtext=EOG091G13DH PANTHER PTHR15336 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR15336 PSORT swissprot:QCR6_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:QCR6_HUMAN PSORT-B swissprot:QCR6_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:QCR6_HUMAN PSORT2 swissprot:QCR6_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:QCR6_HUMAN Pfam PF02320 http://pfam.xfam.org/family/PF02320 PharmGKB PA37220 http://www.pharmgkb.org/do/serve?objId=PA37220&objCls=Gene Phobius swissprot:QCR6_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:QCR6_HUMAN PhylomeDB P07919 http://phylomedb.org/?seqid=P07919 ProteinModelPortal P07919 http://www.proteinmodelportal.org/query/uniprot/P07919 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 17081983 http://www.ncbi.nlm.nih.gov/pubmed/17081983 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 2826252 http://www.ncbi.nlm.nih.gov/pubmed/2826252 PubMed 7684318 http://www.ncbi.nlm.nih.gov/pubmed/7684318 Reactome R-HSA-611105 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-611105 RefSeq NP_005995 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_005995 SMR P07919 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P07919 STRING 9606.ENSP00000309565 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000309565&targetmode=cogs SUPFAM SSF81531 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81531 UCSC uc001cpp http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001cpp&org=rat UniGene Hs.481571 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.481571 UniProtKB QCR6_HUMAN http://www.uniprot.org/uniprot/QCR6_HUMAN UniProtKB-AC P07919 http://www.uniprot.org/uniprot/P07919 charge swissprot:QCR6_HUMAN http://rest.g-language.org/emboss/charge/swissprot:QCR6_HUMAN eggNOG ENOG411247S http://eggnogapi.embl.de/nog_data/html/tree/ENOG411247S eggNOG KOG4763 http://eggnogapi.embl.de/nog_data/html/tree/KOG4763 epestfind swissprot:QCR6_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:QCR6_HUMAN garnier swissprot:QCR6_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:QCR6_HUMAN helixturnhelix swissprot:QCR6_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:QCR6_HUMAN hmoment swissprot:QCR6_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:QCR6_HUMAN iep swissprot:QCR6_HUMAN http://rest.g-language.org/emboss/iep/swissprot:QCR6_HUMAN inforesidue swissprot:QCR6_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:QCR6_HUMAN neXtProt NX_P07919 http://www.nextprot.org/db/entry/NX_P07919 octanol swissprot:QCR6_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:QCR6_HUMAN pepcoil swissprot:QCR6_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:QCR6_HUMAN pepdigest swissprot:QCR6_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:QCR6_HUMAN pepinfo swissprot:QCR6_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:QCR6_HUMAN pepnet swissprot:QCR6_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:QCR6_HUMAN pepstats swissprot:QCR6_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:QCR6_HUMAN pepwheel swissprot:QCR6_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:QCR6_HUMAN pepwindow swissprot:QCR6_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:QCR6_HUMAN sigcleave swissprot:QCR6_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:QCR6_HUMAN ## Database ID URL or Descriptions # CAUTION Defined as a pseudogene by HGNC. However, proteomic data on a specific peptide from PubMed:17924679 suggest the existence of this protein. {ECO 0000305}. # CDD cd12153 F1-ATPase_epsilon # ChiTaRS ATP5EP2 human # Ensembl ENST00000381026 ENSP00000370414; ENSG00000180389 # FUNCTION AT5EL_HUMAN Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(1) domain and of the central stalk which is part of the complex rotary element. Rotation of the central stalk against the surrounding alpha(3)beta(3) subunits leads to hydrolysis of ATP in three separate catalytic sites on the beta subunits (By similarity). {ECO 0000250}. # GO_component GO:0000275 mitochondrial proton-transporting ATP synthase complex, catalytic core F(1); IEA:InterPro. # GO_component GO:0005739 mitochondrion; IDA:UniProtKB. # GO_component GO:0005743 mitochondrial inner membrane; IBA:GO_Central. # GO_function GO:0046933 proton-transporting ATP synthase activity, rotational mechanism; IEA:InterPro. # GO_process GO:0015986 ATP synthesis coupled proton transport; IEA:InterPro. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005739 mitochondrion # GOslim_component GO:0043234 protein complex # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0044281 small molecule metabolic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.10.1620.20 -; 1. # HGNC HGNC:34026 ATP5EP2 # IntAct Q5VTU8 13 # InterPro IPR006721 ATP_synth_F1_esu_mt # Organism AT5EL_HUMAN Homo sapiens (Human) # PANTHER PTHR12448 PTHR12448 # Pfam PF04627 ATP-synt_Eps # Proteomes UP000005640 Chromosome 13 # RecName AT5EL_HUMAN ATP synthase subunit epsilon-like protein, mitochondrial # SIMILARITY Belongs to the eukaryotic ATPase epsilon family. {ECO 0000305}. # SUBCELLULAR LOCATION AT5EL_HUMAN Mitochondrion. Mitochondrion inner membrane {ECO 0000250}. # SUBUNIT F-type ATPases have 2 components, CF(1) - the catalytic core - and CF(0) - the membrane proton channel. CF(1) has five subunits: alpha(3), beta(3), gamma(1), delta(1), epsilon(1). CF(0) seems to have nine subunits a, b, c, d, e, f, g, F6 and 8 (or A6L) (By similarity). {ECO:0000250}. # SUPFAM SSF48690 SSF48690 # UCSC uc001uru human # eggNOG ENOG410Y5P5 LUCA # eggNOG KOG3495 Eukaryota BLAST swissprot:AT5EL_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:AT5EL_HUMAN BioCyc ZFISH:HS17497-MONOMER http://biocyc.org/getid?id=ZFISH:HS17497-MONOMER DOI 10.1038/nature02379 http://dx.doi.org/10.1038/nature02379 EMBL AL591024 http://www.ebi.ac.uk/ena/data/view/AL591024 Ensembl ENST00000381026 http://www.ensembl.org/id/ENST00000381026 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000275 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000275 GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_function GO:0046933 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046933 GO_process GO:0015986 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015986 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.10.1620.20 http://www.cathdb.info/version/latest/superfamily/1.10.1620.20 GeneCards ATP5EP2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ATP5EP2 GeneTree ENSGT00390000015470 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000015470 HGNC HGNC:34026 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:34026 HOGENOM HOG000214506 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000214506&db=HOGENOM6 HOVERGEN HBG050611 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050611&db=HOVERGEN HPA HPA042142 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA042142 InParanoid Q5VTU8 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q5VTU8 IntAct Q5VTU8 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q5VTU8* InterPro IPR006721 http://www.ebi.ac.uk/interpro/entry/IPR006721 OMA ANAMKTS http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=ANAMKTS OrthoDB EOG091G16RI http://cegg.unige.ch/orthodb/results?searchtext=EOG091G16RI PANTHER PTHR12448 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12448 PSORT swissprot:AT5EL_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:AT5EL_HUMAN PSORT-B swissprot:AT5EL_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:AT5EL_HUMAN PSORT2 swissprot:AT5EL_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:AT5EL_HUMAN Pfam PF04627 http://pfam.xfam.org/family/PF04627 Phobius swissprot:AT5EL_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:AT5EL_HUMAN PhylomeDB Q5VTU8 http://phylomedb.org/?seqid=Q5VTU8 ProteinModelPortal Q5VTU8 http://www.proteinmodelportal.org/query/uniprot/Q5VTU8 PubMed 15057823 http://www.ncbi.nlm.nih.gov/pubmed/15057823 SMR Q5VTU8 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q5VTU8 STRING 9606.ENSP00000370414 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000370414&targetmode=cogs SUPFAM SSF48690 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48690 UCSC uc001uru http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001uru&org=rat UniGene Hs.574118 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.574118 UniProtKB AT5EL_HUMAN http://www.uniprot.org/uniprot/AT5EL_HUMAN UniProtKB-AC Q5VTU8 http://www.uniprot.org/uniprot/Q5VTU8 charge swissprot:AT5EL_HUMAN http://rest.g-language.org/emboss/charge/swissprot:AT5EL_HUMAN eggNOG ENOG410Y5P5 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410Y5P5 eggNOG KOG3495 http://eggnogapi.embl.de/nog_data/html/tree/KOG3495 epestfind swissprot:AT5EL_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:AT5EL_HUMAN garnier swissprot:AT5EL_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:AT5EL_HUMAN helixturnhelix swissprot:AT5EL_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:AT5EL_HUMAN hmoment swissprot:AT5EL_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:AT5EL_HUMAN iep swissprot:AT5EL_HUMAN http://rest.g-language.org/emboss/iep/swissprot:AT5EL_HUMAN inforesidue swissprot:AT5EL_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:AT5EL_HUMAN neXtProt NX_Q5VTU8 http://www.nextprot.org/db/entry/NX_Q5VTU8 octanol swissprot:AT5EL_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:AT5EL_HUMAN pepcoil swissprot:AT5EL_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:AT5EL_HUMAN pepdigest swissprot:AT5EL_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:AT5EL_HUMAN pepinfo swissprot:AT5EL_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:AT5EL_HUMAN pepnet swissprot:AT5EL_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:AT5EL_HUMAN pepstats swissprot:AT5EL_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:AT5EL_HUMAN pepwheel swissprot:AT5EL_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:AT5EL_HUMAN pepwindow swissprot:AT5EL_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:AT5EL_HUMAN sigcleave swissprot:AT5EL_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:AT5EL_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS Event=Alternative splicing; Named isoforms=3; Name=KvB1.3; IsoId=Q14722-1; Sequence=Displayed; Name=KvB1.1; IsoId=Q14722-2; Sequence=VSP_001051; Name=KvB1.2; IsoId=Q14722-3; Sequence=VSP_001050; Note=Ref.9 (AAC50113) sequence is in conflict in position: 16 L->S. {ECO:0000305}; # AltName KCAB1_HUMAN K(+) channel subunit beta-1 # AltName KCAB1_HUMAN Kv-beta-1 # BioGrid 113626 12 # CCDS CCDS3174 -. [Q14722-1] # CCDS CCDS3175 -. [Q14722-3] # CCDS CCDS33882 -. [Q14722-2] # CDD cd06660 Aldo_ket_red # ChiTaRS KCNAB1 human # DOMAIN KCAB1_HUMAN The N-terminal domain of the beta subunit mediates closure of delayed rectifier potassium channels by physically obstructing the pore. {ECO 0000269|PubMed 19713757, ECO 0000269|PubMed 9763623}. # Ensembl ENST00000302490 ENSP00000305858; ENSG00000169282. [Q14722-2] # Ensembl ENST00000471742 ENSP00000418956; ENSG00000169282. [Q14722-3] # Ensembl ENST00000490337 ENSP00000419952; ENSG00000169282. [Q14722-1] # ExpressionAtlas Q14722 baseline and differential # FUNCTION KCAB1_HUMAN Cytoplasmic potassium channel subunit that modulates the characteristics of the channel-forming alpha-subunits (PubMed 7499366, PubMed 7603988, PubMed 17156368,PubMed 17540341, PubMed 19713757). Modulates action potentials via its effect on the pore-forming alpha subunits (By similarity). Promotes expression of the pore-forming alpha subunits at the cell membrane, and thereby increases channel activity (By similarity). Mediates closure of delayed rectifier potassium channels by physically obstructing the pore via its N-terminal domain and increases the speed of channel closure for other family members (PubMed 9763623). Promotes the closure of KCNA1, KCNA2 and KCNA5 channels (PubMed 7499366, PubMed 7890032, PubMed 7603988, PubMed 7649300, PubMed 8938711, PubMed 12077175, PubMed 12130714, PubMed 15361858, PubMed 17540341, PubMed 19713757). Accelerates KCNA4 channel closure (PubMed 7890032, PubMed 7649300, PubMed 7890764, PubMed 9763623). Accelerates the closure of heteromeric channels formed by KCNA1 and KCNA4 (PubMed 17156368). Accelerates the closure of heteromeric channels formed by KCNA2, KCNA5 and KCNA6 (By similarity). Isoform KvB1.2 has no effect on KCNA1, KCNA2 or KCNB1 (PubMed 7890032, PubMed 7890764). Enhances KCNB1 and KCNB2 channel activity (By similarity). Binds NADPH; this is required for efficient down-regulation of potassium channel activity (PubMed 17540341). Has NADPH-dependent aldoketoreductase activity (By similarity). Oxidation of the bound NADPH strongly decreases N-type inactivation of potassium channel activity (By similarity). {ECO 0000250|UniProtKB P63143, ECO 0000250|UniProtKB P63144, ECO 0000269|PubMed 12077175, ECO 0000269|PubMed 12130714, ECO 0000269|PubMed 15361858, ECO 0000269|PubMed 17156368, ECO 0000269|PubMed 17540341, ECO 0000269|PubMed 19713757, ECO 0000269|PubMed 7499366, ECO 0000269|PubMed 7603988, ECO 0000269|PubMed 7649300, ECO 0000269|PubMed 7890032, ECO 0000269|PubMed 7890764, ECO 0000269|PubMed 8938711, ECO 0000269|PubMed 9763623, ECO 0000305}. # GO_component GO:0005829 cytosol; IDA:UniProtKB. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0008076 voltage-gated potassium channel complex; IEA:Ensembl. # GO_component GO:0031234 extrinsic component of cytoplasmic side of plasma membrane; IDA:UniProtKB. # GO_component GO:0032839 dendrite cytoplasm; IEA:Ensembl. # GO_component GO:0034705 potassium channel complex; IDA:UniProtKB. # GO_component GO:0043204 perikaryon; IEA:Ensembl. # GO_component GO:0044224 juxtaparanode region of axon; IEA:Ensembl. # GO_component GO:1990635 proximal dendrite; IEA:Ensembl. # GO_function GO:0004033 aldo-keto reductase (NADP) activity; ISS:UniProtKB. # GO_function GO:0005249 voltage-gated potassium channel activity; IEA:InterPro. # GO_function GO:0015459 potassium channel regulator activity; IDA:UniProtKB. # GO_function GO:0070402 NADPH binding; IDA:UniProtKB. # GO_process GO:0006813 potassium ion transport; TAS:ProtInc. # GO_process GO:0007420 brain development; IEA:Ensembl. # GO_process GO:0007507 heart development; IEA:Ensembl. # GO_process GO:0007519 skeletal muscle tissue development; IEA:Ensembl. # GO_process GO:0007611 learning or memory; IEA:Ensembl. # GO_process GO:0045445 myoblast differentiation; IEA:Ensembl. # GO_process GO:0055114 oxidation-reduction process; ISS:UniProtKB. # GO_process GO:0060539 diaphragm development; IEA:Ensembl. # GO_process GO:1901379 regulation of potassium ion transmembrane transport; IDA:UniProtKB. # GO_process GO:1902259 regulation of delayed rectifier potassium channel activity; ISS:UniProtKB. # GO_process GO:1902260 negative regulation of delayed rectifier potassium channel activity; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005829 cytosol # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0016491 oxidoreductase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0030154 cell differentiation # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0050877 neurological system process # Gene3D 3.20.20.100 -; 1. # Genevisible Q14722 HS # HGNC HGNC:6228 KCNAB1 # IntAct Q14722 2 # InterPro IPR001395 Aldo/ket_red/Kv-b # InterPro IPR005399 K_chnl_volt-dep_bsu_KCNAB-rel # InterPro IPR005400 K_chnl_volt-dep_bsu_KCNAB1 # InterPro IPR005983 K_chnl_volt-dep_bsu_KCNAB # InterPro IPR023210 NADP_OxRdtase_dom # KEGG_Brite ko04040 Ion channels # MIM 601141 gene # Organism KCAB1_HUMAN Homo sapiens (Human) # PANTHER PTHR11732 PTHR11732 # PIR I55463 I55463 # PIR I59393 I59393 # PRINTS PR01577 KCNABCHANNEL # PRINTS PR01578 KCNAB1CHANEL # Pfam PF00248 Aldo_ket_red # Proteomes UP000005640 Chromosome 3 # Reactome R-HSA-1296072 Voltage gated Potassium channels # RecName KCAB1_HUMAN Voltage-gated potassium channel subunit beta-1 # RefSeq NP_001295146 NM_001308217.1 # RefSeq NP_001295151 NM_001308222.1 # RefSeq NP_003462 NM_003471.3. [Q14722-3] # RefSeq NP_751891 NM_172159.3. [Q14722-2] # RefSeq NP_751892 NM_172160.2. [Q14722-1] # SIMILARITY Belongs to the shaker potassium channel beta subunit family. {ECO 0000305}. # SUBCELLULAR LOCATION KCAB1_HUMAN Cytoplasm {ECO 0000269|PubMed 17540341}. Membrane {ECO 0000250|UniProtKB P63144}; Peripheral membrane protein {ECO 0000305}; Cytoplasmic side {ECO 0000305}. Cell membrane {ECO 0000269|PubMed 17540341}; Peripheral membrane protein {ECO 0000269|PubMed 17540341}; Cytoplasmic side {ECO 0000269|PubMed 17540341}. Note=Recruited to the cytoplasmic side of the cell membrane via its interaction with pore-forming potassium channel alpha subunits. {ECO 0000269|PubMed 17540341}. # SUBUNIT KCAB1_HUMAN Homotetramer (By similarity). Interaction with tetrameric potassium channel alpha subunits gives rise to a heterooctamer (Probable). Identified in potassium channel complexes containing KCNA1, KCNA2, KCNA4, KCNA5, KCNA6, KCNAB1 and KCNAB2 (By similarity). Interacts with KCNA1 (By similarity). Interacts with the dimer formed by GNB1 and GNG2; this enhances KCNA1 binding (By similarity). Interacts with KCNA4 (PubMed 9763623). Interacts with KCNA5 (PubMed 12130714). Interacts with KCNB2 (By similarity). Interacts with SQSTM1 (By similarity). Part of a complex containing KCNA1, KCNA4 and LGI1; interaction with LGI1 inhibits down-regulation of KCNA1 channel activity (By similarity). {ECO 0000250|UniProtKB P63143, ECO 0000250|UniProtKB P63144, ECO 0000269|PubMed 12130714, ECO 0000269|PubMed 9763623, ECO 0000305}. # SUPFAM SSF51430 SSF51430 # TCDB 8.A.5.1 the voltage-gated k(+) channel -subunit (kv) family # TIGRFAMs TIGR01293 Kv_beta # TISSUE SPECIFICITY KCAB1_HUMAN In brain, expression is most prominent in caudate nucleus, hippocampus and thalamus. Significant expression also detected in amygdala and subthalamic nucleus. Also expressed in both healthy and cardiomyopathic heart. Up to four times more abundant in left ventricle than left atrium. {ECO 0000269|PubMed 7603988, ECO 0000269|PubMed 8938711}. # UCSC uc003far human. [Q14722-1] # eggNOG COG0667 LUCA # eggNOG KOG1575 Eukaryota BLAST swissprot:KCAB1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCAB1_HUMAN BioCyc ZFISH:ENSG00000169282-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000169282-MONOMER COXPRESdb 7881 http://coxpresdb.jp/data/gene/7881.shtml CleanEx HS_KCNAB1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNAB1 DOI 10.1016/0014-5793(95)00120-X http://dx.doi.org/10.1016/0014-5793(95)00120-X DOI 10.1016/0014-5793(95)00785-8 http://dx.doi.org/10.1016/0014-5793(95)00785-8 DOI 10.1016/0028-3908(96)00133-5 http://dx.doi.org/10.1016/0028-3908(96)00133-5 DOI 10.1016/j.bbrc.2007.05.102 http://dx.doi.org/10.1016/j.bbrc.2007.05.102 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1038/nsmb825 http://dx.doi.org/10.1038/nsmb825 DOI 10.1073/pnas.92.14.6309 http://dx.doi.org/10.1073/pnas.92.14.6309 DOI 10.1074/jbc.270.11.6272 http://dx.doi.org/10.1074/jbc.270.11.6272 DOI 10.1074/jbc.270.48.28531 http://dx.doi.org/10.1074/jbc.270.48.28531 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1460-9568.2006.05186.x http://dx.doi.org/10.1111/j.1460-9568.2006.05186.x DOI 10.1111/j.1469-7793.1998.325be.x http://dx.doi.org/10.1111/j.1469-7793.1998.325be.x DOI 10.1124/jpet.102.033357 http://dx.doi.org/10.1124/jpet.102.033357 DOI 10.4161/chan.3.5.9558 http://dx.doi.org/10.4161/chan.3.5.9558 DisProt DP00090 http://www.disprot.org/protein.php?id=DP00090 EC_number EC:1.1.1.- {ECO:0000250|UniProtKB:P63144} http://www.genome.jp/dbget-bin/www_bget?EC:1.1.1.- {ECO:0000250|UniProtKB:P63144} EMBL AK057059 http://www.ebi.ac.uk/ena/data/view/AK057059 EMBL AK127240 http://www.ebi.ac.uk/ena/data/view/AK127240 EMBL AK292693 http://www.ebi.ac.uk/ena/data/view/AK292693 EMBL AK292999 http://www.ebi.ac.uk/ena/data/view/AK292999 EMBL BC043166 http://www.ebi.ac.uk/ena/data/view/BC043166 EMBL CH471052 http://www.ebi.ac.uk/ena/data/view/CH471052 EMBL CH471052 http://www.ebi.ac.uk/ena/data/view/CH471052 EMBL CH471052 http://www.ebi.ac.uk/ena/data/view/CH471052 EMBL L39833 http://www.ebi.ac.uk/ena/data/view/L39833 EMBL L47665 http://www.ebi.ac.uk/ena/data/view/L47665 EMBL U16953 http://www.ebi.ac.uk/ena/data/view/U16953 EMBL U17968 http://www.ebi.ac.uk/ena/data/view/U17968 EMBL U33428 http://www.ebi.ac.uk/ena/data/view/U33428 EMBL X83127 http://www.ebi.ac.uk/ena/data/view/X83127 ENZYME 1.1.1.- {ECO:0000250|UniProtKB:P63144} http://enzyme.expasy.org/EC/1.1.1.- {ECO:0000250|UniProtKB:P63144} Ensembl ENST00000302490 http://www.ensembl.org/id/ENST00000302490 Ensembl ENST00000471742 http://www.ensembl.org/id/ENST00000471742 Ensembl ENST00000490337 http://www.ensembl.org/id/ENST00000490337 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0008076 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008076 GO_component GO:0031234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031234 GO_component GO:0032839 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032839 GO_component GO:0034705 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034705 GO_component GO:0043204 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043204 GO_component GO:0044224 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044224 GO_component GO:1990635 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1990635 GO_function GO:0004033 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004033 GO_function GO:0005249 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005249 GO_function GO:0015459 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015459 GO_function GO:0070402 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070402 GO_process GO:0006813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006813 GO_process GO:0007420 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007420 GO_process GO:0007507 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007507 GO_process GO:0007519 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007519 GO_process GO:0007611 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007611 GO_process GO:0045445 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045445 GO_process GO:0055114 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055114 GO_process GO:0060539 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060539 GO_process GO:1901379 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1901379 GO_process GO:1902259 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902259 GO_process GO:1902260 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902260 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0016491 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016491 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0030154 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030154 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 Gene3D 3.20.20.100 http://www.cathdb.info/version/latest/superfamily/3.20.20.100 GeneCards KCNAB1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNAB1 GeneID 7881 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=7881 GeneTree ENSGT00550000074567 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074567 HGNC HGNC:6228 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6228 HOVERGEN HBG052216 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052216&db=HOVERGEN HPA HPA044550 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA044550 InParanoid Q14722 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q14722 IntAct Q14722 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q14722* IntEnz 1.1.1.- {ECO:0000250|UniProtKB:P63144} http://www.ebi.ac.uk/intenz/query?cmd=Search&q=1.1.1.- {ECO:0000250|UniProtKB:P63144} InterPro IPR001395 http://www.ebi.ac.uk/interpro/entry/IPR001395 InterPro IPR005399 http://www.ebi.ac.uk/interpro/entry/IPR005399 InterPro IPR005400 http://www.ebi.ac.uk/interpro/entry/IPR005400 InterPro IPR005983 http://www.ebi.ac.uk/interpro/entry/IPR005983 InterPro IPR023210 http://www.ebi.ac.uk/interpro/entry/IPR023210 Jabion 7881 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=7881 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:7881 http://www.genome.jp/dbget-bin/www_bget?hsa:7881 KEGG_Orthology KO:K04882 http://www.genome.jp/dbget-bin/www_bget?KO:K04882 MIM 601141 http://www.ncbi.nlm.nih.gov/omim/601141 OMA MGLVVWS http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=MGLVVWS OrthoDB EOG091G0KDN http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0KDN PANTHER PTHR11732 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11732 PRINTS PR01577 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01577 PRINTS PR01578 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01578 PSORT swissprot:KCAB1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCAB1_HUMAN PSORT-B swissprot:KCAB1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCAB1_HUMAN PSORT2 swissprot:KCAB1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCAB1_HUMAN Pfam PF00248 http://pfam.xfam.org/family/PF00248 PharmGKB PA370 http://www.pharmgkb.org/do/serve?objId=PA370&objCls=Gene Phobius swissprot:KCAB1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCAB1_HUMAN PhylomeDB Q14722 http://phylomedb.org/?seqid=Q14722 ProteinModelPortal Q14722 http://www.proteinmodelportal.org/query/uniprot/Q14722 PubMed 12077175 http://www.ncbi.nlm.nih.gov/pubmed/12077175 PubMed 12130714 http://www.ncbi.nlm.nih.gov/pubmed/12130714 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15361858 http://www.ncbi.nlm.nih.gov/pubmed/15361858 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 17156368 http://www.ncbi.nlm.nih.gov/pubmed/17156368 PubMed 17540341 http://www.ncbi.nlm.nih.gov/pubmed/17540341 PubMed 19713757 http://www.ncbi.nlm.nih.gov/pubmed/19713757 PubMed 7499366 http://www.ncbi.nlm.nih.gov/pubmed/7499366 PubMed 7603988 http://www.ncbi.nlm.nih.gov/pubmed/7603988 PubMed 7649300 http://www.ncbi.nlm.nih.gov/pubmed/7649300 PubMed 7890032 http://www.ncbi.nlm.nih.gov/pubmed/7890032 PubMed 7890764 http://www.ncbi.nlm.nih.gov/pubmed/7890764 PubMed 8938711 http://www.ncbi.nlm.nih.gov/pubmed/8938711 PubMed 9763623 http://www.ncbi.nlm.nih.gov/pubmed/9763623 Reactome R-HSA-1296072 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1296072 RefSeq NP_001295146 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001295146 RefSeq NP_001295151 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001295151 RefSeq NP_003462 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_003462 RefSeq NP_751891 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_751891 RefSeq NP_751892 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_751892 SMR Q14722 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q14722 STRING 9606.ENSP00000419952 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000419952&targetmode=cogs SUPFAM SSF51430 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF51430 TCDB 8.A.5.1 http://www.tcdb.org/search/result.php?tc=8.A.5.1 TIGRFAMs TIGR01293 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01293 UCSC uc003far http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003far&org=rat UniGene Hs.654519 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.654519 UniGene Hs.703187 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.703187 UniProtKB KCAB1_HUMAN http://www.uniprot.org/uniprot/KCAB1_HUMAN UniProtKB-AC Q14722 http://www.uniprot.org/uniprot/Q14722 charge swissprot:KCAB1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCAB1_HUMAN eggNOG COG0667 http://eggnogapi.embl.de/nog_data/html/tree/COG0667 eggNOG KOG1575 http://eggnogapi.embl.de/nog_data/html/tree/KOG1575 epestfind swissprot:KCAB1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCAB1_HUMAN garnier swissprot:KCAB1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCAB1_HUMAN helixturnhelix swissprot:KCAB1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCAB1_HUMAN hmoment swissprot:KCAB1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCAB1_HUMAN iep swissprot:KCAB1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCAB1_HUMAN inforesidue swissprot:KCAB1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCAB1_HUMAN neXtProt NX_Q14722 http://www.nextprot.org/db/entry/NX_Q14722 octanol swissprot:KCAB1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCAB1_HUMAN pepcoil swissprot:KCAB1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCAB1_HUMAN pepdigest swissprot:KCAB1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCAB1_HUMAN pepinfo swissprot:KCAB1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCAB1_HUMAN pepnet swissprot:KCAB1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCAB1_HUMAN pepstats swissprot:KCAB1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCAB1_HUMAN pepwheel swissprot:KCAB1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCAB1_HUMAN pepwindow swissprot:KCAB1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCAB1_HUMAN sigcleave swissprot:KCAB1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCAB1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS CTSR2_HUMAN Event=Alternative splicing; Named isoforms=4; Name=1; Synonyms=Variant 2; IsoId=Q96P56-1; Sequence=Displayed; Name=2; Synonyms=Variant 1; IsoId=Q96P56-2; Sequence=VSP_026976; Name=3; Synonyms=Variant 3; IsoId=Q96P56-3; Sequence=VSP_026975, VSP_026977; Name=4; IsoId=Q96P56-4; Sequence=VSP_026973, VSP_026974; Note=No experimental confirmation available.; # CCDS CCDS10099 -. [Q96P56-1] # CCDS CCDS32216 -. [Q96P56-2] # DISEASE CTSR2_HUMAN Deafness-infertility syndrome (DIS) [MIM 611102] Characterized by deafness and infertility and is caused by large contiguous gene deletions at 15q15.3 that removes both STRC and CATSPER2 genes. {ECO 0000269|PubMed 12825070, ECO 0000269|PubMed 17098888}. Note=The disease is caused by mutations affecting the gene represented in this entry. # ENZYME REGULATION CTSR2_HUMAN The CatSper calcium channel is indirectly activated by extracellular progesterone and prostaglandins following the sequence progesterone > PGF1-alpha = PGE1 > PGA1 > PGE2 >> PGD2 (PubMed 21412338, PubMed 21412339, PubMed 26989199). The CatSper calcium channel is directly inhibited by endocannabinoid 2-arachidonoylglycerol (2AG) (PubMed 26989199). Indirect activation by progesterone takes place via the following mechanism progesterone binds and activates the acylglycerol lipase ABHD2, which in turn mediates hydrolysis of 2AG inhibitor, relieving inhibition of the CatSper channel (PubMed 26989199). The primary effect of progesterone activation is to shift voltage dependence towards more physiological, negative membrane potentials; it is not mediated by metabotropic receptors and second messengers (PubMed 21412338, PubMed 21412339). Sperm capacitation enhances the effect of progesterone by providing additional negative shift. Also activated by the elevation of intracellular pH (PubMed 21412338, PubMed 21412339). {ECO 0000269|PubMed 21412338, ECO 0000269|PubMed 21412339, ECO 0000269|PubMed 26989199}. # Ensembl ENST00000321596 ENSP00000321463; ENSG00000166762. [Q96P56-1] # Ensembl ENST00000396879 ENSP00000380088; ENSG00000166762. [Q96P56-2] # Ensembl ENST00000433380 ENSP00000389746; ENSG00000166762. [Q96P56-3] # ExpressionAtlas Q96P56 baseline and differential # FUNCTION CTSR2_HUMAN Voltage-gated calcium channel that plays a central role in calcium-dependent physiological responses essential for successful fertilization, such as sperm hyperactivation, acrosome reaction and chemotaxis towards the oocyte. {ECO 0000269|PubMed 21412338, ECO 0000269|PubMed 21412339}. # GO_component GO:0005886 plasma membrane; IBA:GO_Central. # GO_component GO:0031514 motile cilium; IEA:UniProtKB-KW. # GO_component GO:0036128 CatSper complex; ISS:UniProtKB. # GO_function GO:0005227 calcium activated cation channel activity; IEA:InterPro. # GO_function GO:0005245 voltage-gated calcium channel activity; IBA:GO_Central. # GO_process GO:0007275 multicellular organism development; IEA:UniProtKB-KW. # GO_process GO:0007283 spermatogenesis; IEA:UniProtKB-KW. # GO_process GO:0030154 cell differentiation; IEA:UniProtKB-KW. # GO_process GO:0030317 flagellated sperm motility; IBA:GO_Central. # GO_process GO:0032570 response to progesterone; TAS:Reactome. # GO_process GO:0035036 sperm-egg recognition; TAS:Reactome. # GO_process GO:0086010 membrane depolarization during action potential; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0005929 cilium # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0008150 biological_process # GOslim_process GO:0030154 cell differentiation # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0048870 cell motility # Gene3D 1.20.120.350 -; 1. # Genevisible Q96P56 HS # HGNC HGNC:18810 CATSPER2 # INTERACTION CTSR2_HUMAN Q9P0X4 CACNA1I; NbExp=3; IntAct=EBI-2215024, EBI-1220829; # InterPro IPR005821 Ion_trans_dom # InterPro IPR027359 Channel_four-helix_dom # InterPro IPR028747 CatSper2 # MIM 607249 gene # MIM 611102 phenotype # Organism CTSR2_HUMAN Homo sapiens (Human) # Orphanet 94064 Deafness-infertility syndrome # PANTHER PTHR10037:SF189 PTHR10037:SF189 # Pfam PF00520 Ion_trans # Proteomes UP000005640 Chromosome 15 # Reactome R-HSA-1300642 Sperm Motility And Taxes # RecName CTSR2_HUMAN Cation channel sperm-associated protein 2 # RefSeq NP_001269238 NM_001282309.1. [Q96P56-2] # RefSeq NP_473361 NM_054020.3. [Q96P56-2] # RefSeq NP_742093 NM_172095.2. [Q96P56-1] # RefSeq XP_016877393 XM_017021904.1. [Q96P56-1] # SIMILARITY Belongs to the cation channel sperm-associated (TC 1.A.1.19) family. {ECO 0000305}. # SUBCELLULAR LOCATION CTSR2_HUMAN Cell projection, cilium, flagellum membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. Note=Specifically located in the principal piece of sperm tail. # SUBUNIT Heterotetramer; possibly composed of CATSPER1, CATSPER2, CATSPER3 and CATSPER4 (Potential). Component of the CatSper complex. Interacts with Ca(v)3.3/CACNA1I, leading to suppress T- type calcium channel activity. {ECO:0000269|PubMed 16740636, ECO:0000305}. # TCDB 1.A.1.19 the voltage-gated ion channel (vic) superfamily # TISSUE SPECIFICITY CTSR2_HUMAN Testis-specific. {ECO 0000269|PubMed 11675491, ECO 0000269|PubMed 17347248}. # UCSC uc001zsh human. [Q96P56-1] # eggNOG ENOG410INF6 Eukaryota # eggNOG ENOG4111GC6 LUCA BLAST swissprot:CTSR2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CTSR2_HUMAN BioCyc ZFISH:ENSG00000166762-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000166762-MONOMER COXPRESdb 117155 http://coxpresdb.jp/data/gene/117155.shtml CleanEx HS_CATSPER2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CATSPER2 DOI 10.1038/nature09767 http://dx.doi.org/10.1038/nature09767 DOI 10.1038/nature09769 http://dx.doi.org/10.1038/nature09769 DOI 10.1038/sj.ejhg.5200991 http://dx.doi.org/10.1038/sj.ejhg.5200991 DOI 10.1073/pnas.221454998 http://dx.doi.org/10.1073/pnas.221454998 DOI 10.1074/jbc.M511288200 http://dx.doi.org/10.1074/jbc.M511288200 DOI 10.1093/molehr/gam009 http://dx.doi.org/10.1093/molehr/gam009 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.aad6887 http://dx.doi.org/10.1126/science.aad6887 DOI 10.1136/jmg.2006.045765 http://dx.doi.org/10.1136/jmg.2006.045765 EMBL AF411817 http://www.ebi.ac.uk/ena/data/view/AF411817 EMBL AF411818 http://www.ebi.ac.uk/ena/data/view/AF411818 EMBL AF411819 http://www.ebi.ac.uk/ena/data/view/AF411819 EMBL BC028728 http://www.ebi.ac.uk/ena/data/view/BC028728 EMBL BC064387 http://www.ebi.ac.uk/ena/data/view/BC064387 Ensembl ENST00000321596 http://www.ensembl.org/id/ENST00000321596 Ensembl ENST00000396879 http://www.ensembl.org/id/ENST00000396879 Ensembl ENST00000433380 http://www.ensembl.org/id/ENST00000433380 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0031514 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031514 GO_component GO:0036128 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0036128 GO_function GO:0005227 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005227 GO_function GO:0005245 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005245 GO_process GO:0007275 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007275 GO_process GO:0007283 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007283 GO_process GO:0030154 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030154 GO_process GO:0030317 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030317 GO_process GO:0032570 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032570 GO_process GO:0035036 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035036 GO_process GO:0086010 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086010 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0005929 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005929 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0030154 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030154 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0048870 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048870 Gene3D 1.20.120.350 http://www.cathdb.info/version/latest/superfamily/1.20.120.350 GeneCards CATSPER2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CATSPER2 GeneID 117155 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=117155 GeneTree ENSGT00760000119325 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119325 HGNC HGNC:18810 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:18810 HOGENOM HOG000007710 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000007710&db=HOGENOM6 HOVERGEN HBG107782 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG107782&db=HOVERGEN HPA HPA042709 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA042709 InParanoid Q96P56 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q96P56 IntAct Q96P56 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q96P56* InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR027359 http://www.ebi.ac.uk/interpro/entry/IPR027359 InterPro IPR028747 http://www.ebi.ac.uk/interpro/entry/IPR028747 Jabion 117155 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=117155 KEGG_Gene hsa:117155 http://www.genome.jp/dbget-bin/www_bget?hsa:117155 MIM 607249 http://www.ncbi.nlm.nih.gov/omim/607249 MIM 611102 http://www.ncbi.nlm.nih.gov/omim/611102 Orphanet 94064 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=94064 PANTHER PTHR10037:SF189 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10037:SF189 PSORT swissprot:CTSR2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CTSR2_HUMAN PSORT-B swissprot:CTSR2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CTSR2_HUMAN PSORT2 swissprot:CTSR2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CTSR2_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 PharmGKB PA38691 http://www.pharmgkb.org/do/serve?objId=PA38691&objCls=Gene Phobius swissprot:CTSR2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CTSR2_HUMAN PhylomeDB Q96P56 http://phylomedb.org/?seqid=Q96P56 ProteinModelPortal Q96P56 http://www.proteinmodelportal.org/query/uniprot/Q96P56 PubMed 11675491 http://www.ncbi.nlm.nih.gov/pubmed/11675491 PubMed 12825070 http://www.ncbi.nlm.nih.gov/pubmed/12825070 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16740636 http://www.ncbi.nlm.nih.gov/pubmed/16740636 PubMed 17098888 http://www.ncbi.nlm.nih.gov/pubmed/17098888 PubMed 17347248 http://www.ncbi.nlm.nih.gov/pubmed/17347248 PubMed 21412338 http://www.ncbi.nlm.nih.gov/pubmed/21412338 PubMed 21412339 http://www.ncbi.nlm.nih.gov/pubmed/21412339 PubMed 26989199 http://www.ncbi.nlm.nih.gov/pubmed/26989199 Reactome R-HSA-1300642 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1300642 RefSeq NP_001269238 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001269238 RefSeq NP_473361 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_473361 RefSeq NP_742093 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_742093 RefSeq XP_016877393 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016877393 STRING 9606.ENSP00000299989 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000299989&targetmode=cogs TCDB 1.A.1.19 http://www.tcdb.org/search/result.php?tc=1.A.1.19 UCSC uc001zsh http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001zsh&org=rat UniGene Hs.662284 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.662284 UniProtKB CTSR2_HUMAN http://www.uniprot.org/uniprot/CTSR2_HUMAN UniProtKB-AC Q96P56 http://www.uniprot.org/uniprot/Q96P56 charge swissprot:CTSR2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CTSR2_HUMAN eggNOG ENOG410INF6 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410INF6 eggNOG ENOG4111GC6 http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111GC6 epestfind swissprot:CTSR2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CTSR2_HUMAN garnier swissprot:CTSR2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CTSR2_HUMAN helixturnhelix swissprot:CTSR2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CTSR2_HUMAN hmoment swissprot:CTSR2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CTSR2_HUMAN iep swissprot:CTSR2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CTSR2_HUMAN inforesidue swissprot:CTSR2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CTSR2_HUMAN neXtProt NX_Q96P56 http://www.nextprot.org/db/entry/NX_Q96P56 octanol swissprot:CTSR2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CTSR2_HUMAN pepcoil swissprot:CTSR2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CTSR2_HUMAN pepdigest swissprot:CTSR2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CTSR2_HUMAN pepinfo swissprot:CTSR2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CTSR2_HUMAN pepnet swissprot:CTSR2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CTSR2_HUMAN pepstats swissprot:CTSR2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CTSR2_HUMAN pepwheel swissprot:CTSR2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CTSR2_HUMAN pepwindow swissprot:CTSR2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CTSR2_HUMAN sigcleave swissprot:CTSR2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CTSR2_HUMAN ## Database ID URL or Descriptions # AltName KCNE1_HUMAN Delayed rectifier potassium channel subunit IsK # AltName KCNE1_HUMAN IKs producing slow voltage-gated potassium channel subunit beta Mink # AltName KCNE1_HUMAN Minimal potassium channel # BioGrid 109955 5 # ChiTaRS KCNE1 human # DISEASE KCNE1_HUMAN Jervell and Lange-Nielsen syndrome 2 (JLNS2) [MIM 612347] An autosomal recessive disorder characterized by congenital deafness, prolongation of the QT interval, syncopal attacks due to ventricular arrhythmias, and a high risk of sudden death. {ECO 0000269|PubMed 10400998, ECO 0000269|PubMed 9328483, ECO 0000269|PubMed 9354783}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE KCNE1_HUMAN Long QT syndrome 5 (LQT5) [MIM 613695] A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. {ECO 0000269|PubMed 10400998, ECO 0000269|PubMed 10973849, ECO 0000269|PubMed 11692163, ECO 0000269|PubMed 16414944, ECO 0000269|PubMed 19716085, ECO 0000269|PubMed 9354802, ECO 0000269|PubMed 9445165}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DrugBank DB00808 Indapamide # Ensembl ENST00000337385 ENSP00000337255; ENSG00000180509 # Ensembl ENST00000399284 ENSP00000382225; ENSG00000180509 # Ensembl ENST00000399286 ENSP00000382226; ENSG00000180509 # Ensembl ENST00000399289 ENSP00000382228; ENSG00000180509 # Ensembl ENST00000416357 ENSP00000416258; ENSG00000180509 # Ensembl ENST00000432085 ENSP00000412498; ENSG00000180509 # Ensembl ENST00000611936 ENSP00000478215; ENSG00000180509 # Ensembl ENST00000621601 ENSP00000483895; ENSG00000180509 # ExpressionAtlas P15382 baseline and differential # FUNCTION KCNE1_HUMAN Ancillary protein that assembles as a beta subunit with a voltage-gated potassium channel complex of pore-forming alpha subunits. Modulates the gating kinetics and enhances stability of the channel complex. Assembled with KCNB1 modulates the gating characteristics of the delayed rectifier voltage-dependent potassium channel KCNB1 (PubMed 19219384). Assembled with KCNQ1/KVLQT1 is proposed to form the slowly activating delayed rectifier cardiac potassium (IKs) channel. The outward current reaches its steady state only after 50 seconds. Assembled with KCNH2/HERG may modulate the rapidly activating component of the delayed rectifying potassium current in heart (IKr). {ECO 0000269|PubMed 19219384}. # GO_component GO:0005764 lysosome; IDA:UniProtKB. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0008076 voltage-gated potassium channel complex; IDA:BHF-UCL. # GO_component GO:0009986 cell surface; IDA:BHF-UCL. # GO_component GO:0016324 apical plasma membrane; ISS:BHF-UCL. # GO_component GO:0030018 Z disc; ISS:BHF-UCL. # GO_component GO:0045121 membrane raft; IEA:UniProtKB-SubCell. # GO_function GO:0005251 delayed rectifier potassium channel activity; IDA:UniProtKB. # GO_function GO:0015459 potassium channel regulator activity; IDA:UniProtKB. # GO_function GO:0031433 telethonin binding; IPI:BHF-UCL. # GO_process GO:0006487 protein N-linked glycosylation; IDA:UniProtKB. # GO_process GO:0006493 protein O-linked glycosylation; IDA:UniProtKB. # GO_process GO:0007605 sensory perception of sound; TAS:ProtInc. # GO_process GO:0060307 regulation of ventricular cardiac muscle cell membrane repolarization; IMP:BHF-UCL. # GO_process GO:0061337 cardiac conduction; TAS:Reactome. # GO_process GO:0071320 cellular response to cAMP; IDA:BHF-UCL. # GO_process GO:0071435 potassium ion export; IDA:BHF-UCL. # GO_process GO:0071805 potassium ion transmembrane transport; IDA:BHF-UCL. # GO_process GO:0086002 cardiac muscle cell action potential involved in contraction; IMP:BHF-UCL. # GO_process GO:0086005 ventricular cardiac muscle cell action potential; IMP:BHF-UCL. # GO_process GO:0086009 membrane repolarization; IDA:BHF-UCL. # GO_process GO:0086011 membrane repolarization during action potential; IDA:BHF-UCL. # GO_process GO:0086013 membrane repolarization during cardiac muscle cell action potential; IDA:BHF-UCL. # GO_process GO:0086091 regulation of heart rate by cardiac conduction; IMP:BHF-UCL. # GO_process GO:0090315 negative regulation of protein targeting to membrane; ISS:BHF-UCL. # GO_process GO:0098915 membrane repolarization during ventricular cardiac muscle cell action potential; IMP:BHF-UCL. # GO_process GO:1901379 regulation of potassium ion transmembrane transport; IDA:BHF-UCL. # GO_process GO:1901381 positive regulation of potassium ion transmembrane transport; IDA:BHF-UCL. # GO_process GO:1902259 regulation of delayed rectifier potassium channel activity; IDA:BHF-UCL. # GO_process GO:1902260 negative regulation of delayed rectifier potassium channel activity; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005764 lysosome # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0008092 cytoskeletal protein binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006464 cellular protein modification process # GOslim_process GO:0008150 biological_process # GOslim_process GO:0050877 neurological system process # GOslim_process GO:0055085 transmembrane transport # Genevisible P15382 HS # HGNC HGNC:6240 KCNE1 # INTERACTION KCNE1_HUMAN P51787 KCNQ1; NbExp=4; IntAct=EBI-7043557, EBI-359667; A6HIS0 Tcap (xeno); NbExp=3; IntAct=EBI-7043557, EBI-8784724; # IntAct P15382 4 # InterPro IPR000369 K_chnl_KCNE # InterPro IPR005424 K_chnl_volt-dep_bsu_KCNE1 # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00720 [Cardiovascular disease] Jervell and Lange-Nielsen syndrome (JLNS) # MIM 176261 gene # MIM 612347 phenotype # MIM 613695 phenotype # Organism KCNE1_HUMAN Homo sapiens (Human) # Orphanet 101016 Romano-Ward syndrome # Orphanet 334 Familial atrial fibrillation # Orphanet 90647 Jervell and Lange-Nielsen syndrome # PDB 2K21 NMR; -; A=1-129 # PIR A32447 A32447 # PRINTS PR00168 KCNECHANNEL # PRINTS PR01604 KCNE1CHANNEL # PTM KCNE1_HUMAN N-glycosylation at Asn-26 occurs post-translationally, and requires prior cotranslational glycosylation at Asn-5. {ECO 0000269|PubMed 21669976, ECO 0000269|PubMed 21676880}. # PTM KCNE1_HUMAN Phosphorylation inhibits the potassium current. {ECO 0000250}. # Pfam PF02060 ISK_Channel # Proteomes UP000005640 Chromosome 21 # Reactome R-HSA-5576890 Phase 3 - rapid repolarisation # Reactome R-HSA-5576893 Phase 2 - plateau phase # RecName KCNE1_HUMAN Potassium voltage-gated channel subfamily E member 1 # RefSeq NP_000210 NM_000219.5 # RefSeq NP_001121140 NM_001127668.3 # RefSeq NP_001121141 NM_001127669.3 # RefSeq NP_001121142 NM_001127670.3 # RefSeq NP_001257331 NM_001270402.2 # RefSeq NP_001257332 NM_001270403.2 # RefSeq NP_001257333 NM_001270404.2 # RefSeq NP_001257334 NM_001270405.2 # SEQUENCE CAUTION Sequence=AAH36452.1; Type=Erroneous termination; Positions=106; Note=Translated as Cys.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the potassium channel KCNE family. {ECO 0000305}. # SUBCELLULAR LOCATION KCNE1_HUMAN Cell membrane {ECO 0000269|PubMed 19219384}; Single-pass type I membrane protein {ECO 0000305}. Apical cell membrane {ECO 0000250|UniProtKB P15383}. Membrane raft {ECO 0000269|PubMed 20533308}. Note=Colocalizes with KCNB1 at the plasma membrane (By similarity). Targets to the membrane raft when associated with KNCQ1 (PubMed 20533308). {ECO 0000250|UniProtKB P15383, ECO 0000269|PubMed 20533308}. # SUBUNIT KCNE1_HUMAN Interacts with KCNB1. Interacts with KCNC2 (By similarity). Associates with KCNH2/HERG (PubMed 9230439). Interacts with KNCQ1; targets the complex KNCQ1-KCNE1 to the membrane raft (PubMed 20533308). {ECO 0000250|UniProtKB P15383, ECO 0000269|PubMed 20533308, ECO 0000269|PubMed 9230439}. # TISSUE SPECIFICITY KCNE1_HUMAN Expressed in lung, kidney, testis, ovaries, small intestine, peripheral blood leukocytes. Expressed in the heart (PubMed 19219384). Not detected in pancreas, spleen, prostate and colon. Restrictively localized in the apical membrane portion of epithelial cells. {ECO 0000269|PubMed 19219384, ECO 0000269|PubMed 9312006}. # UCSC uc002ytz human # eggNOG ENOG410IY71 Eukaryota # eggNOG ENOG410Y1SF LUCA BLAST swissprot:KCNE1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCNE1_HUMAN BioCyc ZFISH:ENSG00000180509-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000180509-MONOMER COXPRESdb 3753 http://coxpresdb.jp/data/gene/3753.shtml CleanEx HS_KCNE1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNE1 DOI 10.1001/jama.294.23.2975 http://dx.doi.org/10.1001/jama.294.23.2975 DOI 10.1002/humu.20360 http://dx.doi.org/10.1002/humu.20360 DOI 10.1002/jcp.22265 http://dx.doi.org/10.1002/jcp.22265 DOI 10.1006/jmcc.1996.0198 http://dx.doi.org/10.1006/jmcc.1996.0198 DOI 10.1007/s001090100249 http://dx.doi.org/10.1007/s001090100249 DOI 10.1007/s00232-009-9154-8 http://dx.doi.org/10.1007/s00232-009-9154-8 DOI 10.1016/0006-291X(89)91577-5 http://dx.doi.org/10.1016/0006-291X(89)91577-5 DOI 10.1016/0378-1119(94)90685-8 http://dx.doi.org/10.1016/0378-1119(94)90685-8 DOI 10.1016/j.hrthm.2009.05.021 http://dx.doi.org/10.1016/j.hrthm.2009.05.021 DOI 10.1021/bi800875q http://dx.doi.org/10.1021/bi800875q DOI 10.1038/40882 http://dx.doi.org/10.1038/40882 DOI 10.1038/ng1197-267 http://dx.doi.org/10.1038/ng1197-267 DOI 10.1038/ng1197-338 http://dx.doi.org/10.1038/ng1197-338 DOI 10.1074/jbc.M111.235168 http://dx.doi.org/10.1074/jbc.M111.235168 DOI 10.1093/emboj/16.17.5472 http://dx.doi.org/10.1093/emboj/16.17.5472 DOI 10.1093/hmg/6.12.2179 http://dx.doi.org/10.1093/hmg/6.12.2179 DOI 10.1093/hmg/8.8.1499 http://dx.doi.org/10.1093/hmg/8.8.1499 DOI 10.1096/fj.01-0520hyp http://dx.doi.org/10.1096/fj.01-0520hyp DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1113/jphysiol.2011.211284 http://dx.doi.org/10.1113/jphysiol.2011.211284 DOI 10.1161/01.CIR.0000125524.34234.13 http://dx.doi.org/10.1161/01.CIR.0000125524.34234.13 DOI 10.1161/01.CIR.102.10.1178 http://dx.doi.org/10.1161/01.CIR.102.10.1178 DOI 10.1161/01.CIR.97.2.142 http://dx.doi.org/10.1161/01.CIR.97.2.142 DOI 10.1242/jcs.147033 http://dx.doi.org/10.1242/jcs.147033 DrugBank DB00808 http://www.drugbank.ca/drugs/DB00808 EMBL AF135188 http://www.ebi.ac.uk/ena/data/view/AF135188 EMBL BC036452 http://www.ebi.ac.uk/ena/data/view/BC036452 EMBL DQ784803 http://www.ebi.ac.uk/ena/data/view/DQ784803 EMBL L28168 http://www.ebi.ac.uk/ena/data/view/L28168 EMBL L33815 http://www.ebi.ac.uk/ena/data/view/L33815 EMBL M26685 http://www.ebi.ac.uk/ena/data/view/M26685 Ensembl ENST00000337385 http://www.ensembl.org/id/ENST00000337385 Ensembl ENST00000399284 http://www.ensembl.org/id/ENST00000399284 Ensembl ENST00000399286 http://www.ensembl.org/id/ENST00000399286 Ensembl ENST00000399289 http://www.ensembl.org/id/ENST00000399289 Ensembl ENST00000416357 http://www.ensembl.org/id/ENST00000416357 Ensembl ENST00000432085 http://www.ensembl.org/id/ENST00000432085 Ensembl ENST00000611936 http://www.ensembl.org/id/ENST00000611936 Ensembl ENST00000621601 http://www.ensembl.org/id/ENST00000621601 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005764 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005764 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0008076 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008076 GO_component GO:0009986 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009986 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:0030018 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030018 GO_component GO:0045121 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045121 GO_function GO:0005251 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005251 GO_function GO:0015459 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015459 GO_function GO:0031433 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031433 GO_process GO:0006487 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006487 GO_process GO:0006493 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006493 GO_process GO:0007605 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007605 GO_process GO:0060307 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060307 GO_process GO:0061337 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061337 GO_process GO:0071320 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071320 GO_process GO:0071435 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071435 GO_process GO:0071805 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071805 GO_process GO:0086002 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086002 GO_process GO:0086005 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086005 GO_process GO:0086009 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086009 GO_process GO:0086011 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086011 GO_process GO:0086013 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086013 GO_process GO:0086091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086091 GO_process GO:0090315 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090315 GO_process GO:0098915 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0098915 GO_process GO:1901379 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1901379 GO_process GO:1901381 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1901381 GO_process GO:1902259 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902259 GO_process GO:1902260 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902260 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005764 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005764 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0008092 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008092 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006464 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006464 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards KCNE1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNE1 GeneID 3753 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=3753 GeneTree ENSGT00510000048994 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00510000048994 HGNC HGNC:6240 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6240 HOGENOM HOG000113207 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000113207&db=HOGENOM6 HOVERGEN HBG052226 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052226&db=HOVERGEN InParanoid P15382 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P15382 IntAct P15382 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P15382* InterPro IPR000369 http://www.ebi.ac.uk/interpro/entry/IPR000369 InterPro IPR005424 http://www.ebi.ac.uk/interpro/entry/IPR005424 Jabion 3753 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=3753 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00720 http://www.genome.jp/dbget-bin/www_bget?H00720 KEGG_Gene hsa:3753 http://www.genome.jp/dbget-bin/www_bget?hsa:3753 KEGG_Orthology KO:K04894 http://www.genome.jp/dbget-bin/www_bget?KO:K04894 MIM 176261 http://www.ncbi.nlm.nih.gov/omim/176261 MIM 612347 http://www.ncbi.nlm.nih.gov/omim/612347 MIM 613695 http://www.ncbi.nlm.nih.gov/omim/613695 MINT MINT-7297782 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-7297782 OMA ALYILMV http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=ALYILMV Orphanet 101016 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=101016 Orphanet 334 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=334 Orphanet 90647 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=90647 OrthoDB EOG091G0UDJ http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0UDJ PDB 2K21 http://www.ebi.ac.uk/pdbe-srv/view/entry/2K21 PDBsum 2K21 http://www.ebi.ac.uk/pdbsum/2K21 PRINTS PR00168 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00168 PRINTS PR01604 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01604 PSORT swissprot:KCNE1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCNE1_HUMAN PSORT-B swissprot:KCNE1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCNE1_HUMAN PSORT2 swissprot:KCNE1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCNE1_HUMAN Pfam PF02060 http://pfam.xfam.org/family/PF02060 PharmGKB PA211 http://www.pharmgkb.org/do/serve?objId=PA211&objCls=Gene Phobius swissprot:KCNE1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCNE1_HUMAN PhylomeDB P15382 http://phylomedb.org/?seqid=P15382 ProteinModelPortal P15382 http://www.proteinmodelportal.org/query/uniprot/P15382 PubMed 10400998 http://www.ncbi.nlm.nih.gov/pubmed/10400998 PubMed 10973849 http://www.ncbi.nlm.nih.gov/pubmed/10973849 PubMed 11692163 http://www.ncbi.nlm.nih.gov/pubmed/11692163 PubMed 11874988 http://www.ncbi.nlm.nih.gov/pubmed/11874988 PubMed 15051636 http://www.ncbi.nlm.nih.gov/pubmed/15051636 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16414944 http://www.ncbi.nlm.nih.gov/pubmed/16414944 PubMed 16823764 http://www.ncbi.nlm.nih.gov/pubmed/16823764 PubMed 18611041 http://www.ncbi.nlm.nih.gov/pubmed/18611041 PubMed 19219384 http://www.ncbi.nlm.nih.gov/pubmed/19219384 PubMed 19716085 http://www.ncbi.nlm.nih.gov/pubmed/19716085 PubMed 20533308 http://www.ncbi.nlm.nih.gov/pubmed/20533308 PubMed 21669976 http://www.ncbi.nlm.nih.gov/pubmed/21669976 PubMed 21676880 http://www.ncbi.nlm.nih.gov/pubmed/21676880 PubMed 25037568 http://www.ncbi.nlm.nih.gov/pubmed/25037568 PubMed 2730656 http://www.ncbi.nlm.nih.gov/pubmed/2730656 PubMed 7828904 http://www.ncbi.nlm.nih.gov/pubmed/7828904 PubMed 8899564 http://www.ncbi.nlm.nih.gov/pubmed/8899564 PubMed 9230439 http://www.ncbi.nlm.nih.gov/pubmed/9230439 PubMed 9312006 http://www.ncbi.nlm.nih.gov/pubmed/9312006 PubMed 9328483 http://www.ncbi.nlm.nih.gov/pubmed/9328483 PubMed 9354783 http://www.ncbi.nlm.nih.gov/pubmed/9354783 PubMed 9354802 http://www.ncbi.nlm.nih.gov/pubmed/9354802 PubMed 9445165 http://www.ncbi.nlm.nih.gov/pubmed/9445165 Reactome R-HSA-5576890 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576890 Reactome R-HSA-5576893 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576893 RefSeq NP_000210 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000210 RefSeq NP_001121140 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001121140 RefSeq NP_001121141 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001121141 RefSeq NP_001121142 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001121142 RefSeq NP_001257331 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001257331 RefSeq NP_001257332 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001257332 RefSeq NP_001257333 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001257333 RefSeq NP_001257334 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001257334 SMR P15382 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P15382 STRING 9606.ENSP00000337255 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000337255&targetmode=cogs UCSC uc002ytz http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002ytz&org=rat UniGene Hs.121495 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.121495 UniGene Hs.745384 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.745384 UniProtKB KCNE1_HUMAN http://www.uniprot.org/uniprot/KCNE1_HUMAN UniProtKB-AC P15382 http://www.uniprot.org/uniprot/P15382 charge swissprot:KCNE1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCNE1_HUMAN eggNOG ENOG410IY71 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IY71 eggNOG ENOG410Y1SF http://eggnogapi.embl.de/nog_data/html/tree/ENOG410Y1SF epestfind swissprot:KCNE1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCNE1_HUMAN garnier swissprot:KCNE1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCNE1_HUMAN helixturnhelix swissprot:KCNE1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCNE1_HUMAN hmoment swissprot:KCNE1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCNE1_HUMAN iep swissprot:KCNE1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCNE1_HUMAN inforesidue swissprot:KCNE1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCNE1_HUMAN neXtProt NX_P15382 http://www.nextprot.org/db/entry/NX_P15382 octanol swissprot:KCNE1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCNE1_HUMAN pepcoil swissprot:KCNE1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCNE1_HUMAN pepdigest swissprot:KCNE1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCNE1_HUMAN pepinfo swissprot:KCNE1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCNE1_HUMAN pepnet swissprot:KCNE1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCNE1_HUMAN pepstats swissprot:KCNE1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCNE1_HUMAN pepwheel swissprot:KCNE1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCNE1_HUMAN pepwindow swissprot:KCNE1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCNE1_HUMAN sigcleave swissprot:KCNE1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCNE1_HUMAN ## Database ID URL or Descriptions # AltName TXTP_HUMAN Citrate transport protein # AltName TXTP_HUMAN Solute carrier family 25 member 1 # AltName TXTP_HUMAN Tricarboxylate carrier protein # BioGrid 112464 46 # ChiTaRS SLC25A1 human # DISEASE TXTP_HUMAN Combined D-2- and L-2-hydroxyglutaric aciduria (D2L2AD) [MIM 615182] An autosomal recessive neurometabolic disorder characterized by neonatal-onset encephalopathy with severe muscular weakness, intractable seizures, respiratory distress, and lack of psychomotor development resulting in early death. Brain imaging shows abnormalities including enlarged ventricles, delayed myelination, and germinal layer cysts. {ECO 0000269|PubMed 23561848}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000215882 ENSP00000215882; ENSG00000100075 # ExpressionAtlas P53007 baseline and differential # FUNCTION TXTP_HUMAN Involved in citrate-H(+)/malate exchange. Important for the bioenergetics of hepatic cells as it provides a carbon source for fatty acid and sterol biosyntheses, and NAD(+) for the glycolytic pathway. # GO_component GO:0005634 nucleus; IDA:UniProtKB. # GO_component GO:0005743 mitochondrial inner membrane; TAS:Reactome. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0015137 citrate transmembrane transporter activity; TAS:UniProtKB. # GO_function GO:0015142 tricarboxylic acid transmembrane transporter activity; TAS:Reactome. # GO_process GO:0006094 gluconeogenesis; TAS:Reactome. # GO_process GO:0035338 long-chain fatty-acyl-CoA biosynthetic process; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005634 nucleus # GOslim_component GO:0043226 organelle # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0005975 carbohydrate metabolic process # GOslim_process GO:0006790 sulfur compound metabolic process # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0044281 small molecule metabolic process # GOslim_process GO:0051186 cofactor metabolic process # Gene3D 1.50.40.10 -; 1. # Genevisible P53007 HS # HGNC HGNC:10979 SLC25A1 # IntAct P53007 25 # InterPro IPR002067 Mit_carrier # InterPro IPR018108 Mitochondrial_sb/sol_carrier # InterPro IPR023395 Mt_carrier_dom # KEGG_Brite ko02001 Solute carrier family # MIM 190315 gene # MIM 615182 phenotype # Organism TXTP_HUMAN Homo sapiens (Human) # Orphanet 356978 D,L-2-hydroxyglutaric aciduria # Orphanet 98914 Presynaptic congenital myasthenic syndromes # PIR G01789 G01789 # PRINTS PR00926 MITOCARRIER # PROSITE PS50920 SOLCAR; 3 # Pfam PF00153 Mito_carr; 3 # Proteomes UP000005640 Chromosome 22 # Reactome R-HSA-70263 Gluconeogenesis # Reactome R-HSA-75105 Fatty Acyl-CoA Biosynthesis # RecName TXTP_HUMAN Tricarboxylate transport protein, mitochondrial # RefSeq NP_005975 NM_005984.4 # SIMILARITY Belongs to the mitochondrial carrier (TC 2.A.29) family. {ECO 0000305}. # SIMILARITY Contains 3 Solcar repeats. {ECO:0000255|PROSITE- ProRule PRU00282}. # SUBCELLULAR LOCATION TXTP_HUMAN Mitochondrion inner membrane; Multi-pass membrane protein. # SUPFAM SSF103506 SSF103506 # TCDB 2.A.29.7 the mitochondrial carrier (mc) family # UCSC uc002zoz human # eggNOG ENOG410YAYP LUCA # eggNOG KOG0756 Eukaryota BLAST swissprot:TXTP_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:TXTP_HUMAN BioCyc ZFISH:ENSG00000100075-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000100075-MONOMER COXPRESdb 6576 http://coxpresdb.jp/data/gene/6576.shtml CleanEx HS_SLC25A1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC25A1 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1006/geno.1995.9982 http://dx.doi.org/10.1006/geno.1995.9982 DOI 10.1006/geno.1996.0191 http://dx.doi.org/10.1006/geno.1996.0191 DOI 10.1016/j.ajhg.2013.03.009 http://dx.doi.org/10.1016/j.ajhg.2013.03.009 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1175371 http://dx.doi.org/10.1126/science.1175371 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AK292313 http://www.ebi.ac.uk/ena/data/view/AK292313 EMBL BC004980 http://www.ebi.ac.uk/ena/data/view/BC004980 EMBL BC008061 http://www.ebi.ac.uk/ena/data/view/BC008061 EMBL L75823 http://www.ebi.ac.uk/ena/data/view/L75823 EMBL L76134 http://www.ebi.ac.uk/ena/data/view/L76134 EMBL U25147 http://www.ebi.ac.uk/ena/data/view/U25147 Ensembl ENST00000215882 http://www.ensembl.org/id/ENST00000215882 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0015137 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015137 GO_function GO:0015142 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015142 GO_process GO:0006094 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006094 GO_process GO:0035338 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035338 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0005975 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005975 GOslim_process GO:0006790 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006790 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GOslim_process GO:0051186 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051186 Gene3D 1.50.40.10 http://www.cathdb.info/version/latest/superfamily/1.50.40.10 GeneCards SLC25A1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC25A1 GeneID 6576 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6576 GeneTree ENSGT00550000074856 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074856 H-InvDB HIX0040279 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0040279 HGNC HGNC:10979 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10979 HOVERGEN HBG103009 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG103009&db=HOVERGEN HPA HPA030183 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA030183 InParanoid P53007 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P53007 IntAct P53007 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P53007* InterPro IPR002067 http://www.ebi.ac.uk/interpro/entry/IPR002067 InterPro IPR018108 http://www.ebi.ac.uk/interpro/entry/IPR018108 InterPro IPR023395 http://www.ebi.ac.uk/interpro/entry/IPR023395 Jabion 6576 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6576 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:6576 http://www.genome.jp/dbget-bin/www_bget?hsa:6576 KEGG_Orthology KO:K15100 http://www.genome.jp/dbget-bin/www_bget?KO:K15100 MIM 190315 http://www.ncbi.nlm.nih.gov/omim/190315 MIM 615182 http://www.ncbi.nlm.nih.gov/omim/615182 MINT MINT-1153318 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1153318 OMA KPKYRGF http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=KPKYRGF Orphanet 356978 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=356978 Orphanet 98914 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=98914 OrthoDB EOG091G0KE7 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0KE7 PRINTS PR00926 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00926 PROSITE PS50920 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50920 PSORT swissprot:TXTP_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:TXTP_HUMAN PSORT-B swissprot:TXTP_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:TXTP_HUMAN PSORT2 swissprot:TXTP_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:TXTP_HUMAN Pfam PF00153 http://pfam.xfam.org/family/PF00153 PharmGKB PA35855 http://www.pharmgkb.org/do/serve?objId=PA35855&objCls=Gene Phobius swissprot:TXTP_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:TXTP_HUMAN PhylomeDB P53007 http://phylomedb.org/?seqid=P53007 ProteinModelPortal P53007 http://www.proteinmodelportal.org/query/uniprot/P53007 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 19608861 http://www.ncbi.nlm.nih.gov/pubmed/19608861 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 23561848 http://www.ncbi.nlm.nih.gov/pubmed/23561848 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 8660975 http://www.ncbi.nlm.nih.gov/pubmed/8660975 PubMed 8666394 http://www.ncbi.nlm.nih.gov/pubmed/8666394 Reactome R-HSA-70263 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-70263 Reactome R-HSA-75105 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-75105 RefSeq NP_005975 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_005975 STRING 9606.ENSP00000215882 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000215882&targetmode=cogs SUPFAM SSF103506 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103506 TCDB 2.A.29.7 http://www.tcdb.org/search/result.php?tc=2.A.29.7 UCSC uc002zoz http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002zoz&org=rat UniGene Hs.111024 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.111024 UniProtKB TXTP_HUMAN http://www.uniprot.org/uniprot/TXTP_HUMAN UniProtKB-AC P53007 http://www.uniprot.org/uniprot/P53007 charge swissprot:TXTP_HUMAN http://rest.g-language.org/emboss/charge/swissprot:TXTP_HUMAN eggNOG ENOG410YAYP http://eggnogapi.embl.de/nog_data/html/tree/ENOG410YAYP eggNOG KOG0756 http://eggnogapi.embl.de/nog_data/html/tree/KOG0756 epestfind swissprot:TXTP_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:TXTP_HUMAN garnier swissprot:TXTP_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:TXTP_HUMAN helixturnhelix swissprot:TXTP_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:TXTP_HUMAN hmoment swissprot:TXTP_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:TXTP_HUMAN iep swissprot:TXTP_HUMAN http://rest.g-language.org/emboss/iep/swissprot:TXTP_HUMAN inforesidue swissprot:TXTP_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:TXTP_HUMAN neXtProt NX_P53007 http://www.nextprot.org/db/entry/NX_P53007 octanol swissprot:TXTP_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:TXTP_HUMAN pepcoil swissprot:TXTP_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:TXTP_HUMAN pepdigest swissprot:TXTP_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:TXTP_HUMAN pepinfo swissprot:TXTP_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:TXTP_HUMAN pepnet swissprot:TXTP_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:TXTP_HUMAN pepstats swissprot:TXTP_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:TXTP_HUMAN pepwheel swissprot:TXTP_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:TXTP_HUMAN pepwindow swissprot:TXTP_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:TXTP_HUMAN sigcleave swissprot:TXTP_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:TXTP_HUMAN ## Database ID URL or Descriptions # BioGrid 123605 54 # CAUTION It is uncertain whether Met-1 or Met-5 is the initiator. {ECO 0000305}. # ChiTaRS SFXN3 human # Ensembl ENST00000224807 ENSP00000224807; ENSG00000107819 # ExpressionAtlas Q9BWM7 baseline and differential # FUNCTION SFXN3_HUMAN Potential iron transporter. # GO_component GO:0005739 mitochondrion; IDA:HPA. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0031966 mitochondrial membrane; IEA:UniProtKB-SubCell. # GO_function GO:0015075 ion transmembrane transporter activity; IEA:InterPro. # GO_process GO:0055072 iron ion homeostasis; IEA:UniProtKB-KW. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005739 mitochondrion # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0042592 homeostatic process # Genevisible Q9BWM7 HS # HGNC HGNC:16087 SFXN3 # IntAct Q9BWM7 18 # InterPro IPR004686 Mtc # MIM 615571 gene # Organism SFXN3_HUMAN Homo sapiens (Human) # PANTHER PTHR11153 PTHR11153 # Pfam PF03820 Mtc # Proteomes UP000005640 Chromosome 10 # RecName SFXN3_HUMAN Sideroflexin-3 # RefSeq NP_112233 NM_030971.3 # SIMILARITY Belongs to the sideroflexin family. {ECO 0000305}. # SUBCELLULAR LOCATION SFXN3_HUMAN Mitochondrion membrane {ECO 0000269|Ref.4}; Multi-pass membrane protein {ECO 0000269|Ref.4}. # TIGRFAMs TIGR00798 mtc # UCSC uc057vma human # eggNOG ENOG410YU8V LUCA # eggNOG KOG3767 Eukaryota BLAST swissprot:SFXN3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SFXN3_HUMAN BioCyc ZFISH:ENSG00000107819-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000107819-MONOMER COXPRESdb 81855 http://coxpresdb.jp/data/gene/81855.shtml CleanEx HS_SFXN3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SFXN3 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1038/nature02462 http://dx.doi.org/10.1038/nature02462 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.1210303109 http://dx.doi.org/10.1073/pnas.1210303109 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AK074707 http://www.ebi.ac.uk/ena/data/view/AK074707 EMBL AL133215 http://www.ebi.ac.uk/ena/data/view/AL133215 EMBL BC000124 http://www.ebi.ac.uk/ena/data/view/BC000124 Ensembl ENST00000224807 http://www.ensembl.org/id/ENST00000224807 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0031966 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031966 GO_function GO:0015075 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015075 GO_process GO:0055072 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055072 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GeneCards SFXN3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SFXN3 GeneID 81855 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=81855 GeneTree ENSGT00390000002026 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000002026 HGNC HGNC:16087 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:16087 HOGENOM HOG000203440 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000203440&db=HOGENOM6 HOVERGEN HBG056083 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG056083&db=HOVERGEN HPA HPA008028 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA008028 HPA HPA048105 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA048105 InParanoid Q9BWM7 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9BWM7 IntAct Q9BWM7 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9BWM7* InterPro IPR004686 http://www.ebi.ac.uk/interpro/entry/IPR004686 Jabion 81855 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=81855 KEGG_Gene hsa:81855 http://www.genome.jp/dbget-bin/www_bget?hsa:81855 MIM 615571 http://www.ncbi.nlm.nih.gov/omim/615571 OMA IPPLIMD http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=IPPLIMD OrthoDB EOG091G0BOU http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0BOU PANTHER PTHR11153 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11153 PSORT swissprot:SFXN3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SFXN3_HUMAN PSORT-B swissprot:SFXN3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SFXN3_HUMAN PSORT2 swissprot:SFXN3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SFXN3_HUMAN Pfam PF03820 http://pfam.xfam.org/family/PF03820 PharmGKB PA38092 http://www.pharmgkb.org/do/serve?objId=PA38092&objCls=Gene Phobius swissprot:SFXN3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SFXN3_HUMAN PhylomeDB Q9BWM7 http://phylomedb.org/?seqid=Q9BWM7 ProteinModelPortal Q9BWM7 http://www.proteinmodelportal.org/query/uniprot/Q9BWM7 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15164054 http://www.ncbi.nlm.nih.gov/pubmed/15164054 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 22814378 http://www.ncbi.nlm.nih.gov/pubmed/22814378 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 RefSeq NP_112233 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_112233 STRING 9606.ENSP00000224807 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000224807&targetmode=cogs TIGRFAMs TIGR00798 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00798 UCSC uc057vma http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc057vma&org=rat UniGene Hs.283844 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.283844 UniProtKB SFXN3_HUMAN http://www.uniprot.org/uniprot/SFXN3_HUMAN UniProtKB-AC Q9BWM7 http://www.uniprot.org/uniprot/Q9BWM7 charge swissprot:SFXN3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SFXN3_HUMAN eggNOG ENOG410YU8V http://eggnogapi.embl.de/nog_data/html/tree/ENOG410YU8V eggNOG KOG3767 http://eggnogapi.embl.de/nog_data/html/tree/KOG3767 epestfind swissprot:SFXN3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SFXN3_HUMAN garnier swissprot:SFXN3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SFXN3_HUMAN helixturnhelix swissprot:SFXN3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SFXN3_HUMAN hmoment swissprot:SFXN3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SFXN3_HUMAN iep swissprot:SFXN3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SFXN3_HUMAN inforesidue swissprot:SFXN3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SFXN3_HUMAN neXtProt NX_Q9BWM7 http://www.nextprot.org/db/entry/NX_Q9BWM7 octanol swissprot:SFXN3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SFXN3_HUMAN pepcoil swissprot:SFXN3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SFXN3_HUMAN pepdigest swissprot:SFXN3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SFXN3_HUMAN pepinfo swissprot:SFXN3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SFXN3_HUMAN pepnet swissprot:SFXN3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SFXN3_HUMAN pepstats swissprot:SFXN3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SFXN3_HUMAN pepwheel swissprot:SFXN3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SFXN3_HUMAN pepwindow swissprot:SFXN3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SFXN3_HUMAN sigcleave swissprot:SFXN3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SFXN3_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S22A2_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=O15244-1; Sequence=Displayed; Name=2; Synonyms=OCT2-A; IsoId=O15244-2; Sequence=VSP_031773, VSP_031774; Name=3; IsoId=O15244-3; Sequence=VSP_031771, VSP_031772; Note=No experimental confirmation available.; # AltName S22A2_HUMAN Organic cation transporter 2 # BIOPHYSICOCHEMICAL PROPERTIES S22A2_HUMAN Kinetic parameters KM=1 mM for agmatine {ECO 0000269|PubMed 11758759, ECO 0000269|PubMed 12089365, ECO 0000269|PubMed 12538837, ECO 0000269|PubMed 15783073, ECO 0000269|PubMed 16006492, ECO 0000269|PubMed 16272756, ECO 0000269|PubMed 16394027, ECO 0000269|PubMed 9687576}; KM=95 uM for amiloride {ECO 0000269|PubMed 11758759, ECO 0000269|PubMed 12089365, ECO 0000269|PubMed 12538837, ECO 0000269|PubMed 15783073, ECO 0000269|PubMed 16006492, ECO 0000269|PubMed 16272756, ECO 0000269|PubMed 16394027, ECO 0000269|PubMed 9687576}; KM=24 uM for ASP {ECO 0000269|PubMed 11758759, ECO 0000269|PubMed 12089365, ECO 0000269|PubMed 12538837, ECO 0000269|PubMed 15783073, ECO 0000269|PubMed 16006492, ECO 0000269|PubMed 16272756, ECO 0000269|PubMed 16394027, ECO 0000269|PubMed 9687576}; KM=34 uM for memantine {ECO 0000269|PubMed 11758759, ECO 0000269|PubMed 12089365, ECO 0000269|PubMed 12538837, ECO 0000269|PubMed 15783073, ECO 0000269|PubMed 16006492, ECO 0000269|PubMed 16272756, ECO 0000269|PubMed 16394027, ECO 0000269|PubMed 9687576}; KM=27 uM for amantadine {ECO 0000269|PubMed 11758759, ECO 0000269|PubMed 12089365, ECO 0000269|PubMed 12538837, ECO 0000269|PubMed 15783073, ECO 0000269|PubMed 16006492, ECO 0000269|PubMed 16272756, ECO 0000269|PubMed 16394027, ECO 0000269|PubMed 9687576}; KM=1.38 mM for metformin {ECO 0000269|PubMed 11758759, ECO 0000269|PubMed 12089365, ECO 0000269|PubMed 12538837, ECO 0000269|PubMed 15783073, ECO 0000269|PubMed 16006492, ECO 0000269|PubMed 16272756, ECO 0000269|PubMed 16394027, ECO 0000269|PubMed 9687576}; KM=1.9 mM for noradrenaline {ECO 0000269|PubMed 11758759, ECO 0000269|PubMed 12089365, ECO 0000269|PubMed 12538837, ECO 0000269|PubMed 15783073, ECO 0000269|PubMed 16006492, ECO 0000269|PubMed 16272756, ECO 0000269|PubMed 16394027, ECO 0000269|PubMed 9687576}; KM=1.9 mM for norepinephrine {ECO 0000269|PubMed 11758759, ECO 0000269|PubMed 12089365, ECO 0000269|PubMed 12538837, ECO 0000269|PubMed 15783073, ECO 0000269|PubMed 16006492, ECO 0000269|PubMed 16272756, ECO 0000269|PubMed 16394027, ECO 0000269|PubMed 9687576}; KM=1.3 mM for histamine {ECO 0000269|PubMed 11758759, ECO 0000269|PubMed 12089365, ECO 0000269|PubMed 12538837, ECO 0000269|PubMed 15783073, ECO 0000269|PubMed 16006492, ECO 0000269|PubMed 16272756, ECO 0000269|PubMed 16394027, ECO 0000269|PubMed 9687576}; KM=0.39 mM for dopamine {ECO 0000269|PubMed 11758759, ECO 0000269|PubMed 12089365, ECO 0000269|PubMed 12538837, ECO 0000269|PubMed 15783073, ECO 0000269|PubMed 16006492, ECO 0000269|PubMed 16272756, ECO 0000269|PubMed 16394027, ECO 0000269|PubMed 9687576}; KM=0.08 mM for serotonine {ECO 0000269|PubMed 11758759, ECO 0000269|PubMed 12089365, ECO 0000269|PubMed 12538837, ECO 0000269|PubMed 15783073, ECO 0000269|PubMed 16006492, ECO 0000269|PubMed 16272756, ECO 0000269|PubMed 16394027, ECO 0000269|PubMed 9687576}; KM=72.6 uM for cimetidine (at pH 7.4 and 37 degrees Celsius) {ECO 0000269|PubMed 11758759, ECO 0000269|PubMed 12089365, ECO 0000269|PubMed 12538837, ECO 0000269|PubMed 15783073, ECO 0000269|PubMed 16006492, ECO 0000269|PubMed 16272756, ECO 0000269|PubMed 16394027, ECO 0000269|PubMed 9687576}; KM=56.1 uM for famotidine {ECO 0000269|PubMed 11758759, ECO 0000269|PubMed 12089365, ECO 0000269|PubMed 12538837, ECO 0000269|PubMed 15783073, ECO 0000269|PubMed 16006492, ECO 0000269|PubMed 16272756, ECO 0000269|PubMed 16394027, ECO 0000269|PubMed 9687576}; KM=65.2 uM for ranitidine {ECO 0000269|PubMed 11758759, ECO 0000269|PubMed 12089365, ECO 0000269|PubMed 12538837, ECO 0000269|PubMed 15783073, ECO 0000269|PubMed 16006492, ECO 0000269|PubMed 16272756, ECO 0000269|PubMed 16394027, ECO 0000269|PubMed 9687576}; KM=431 uM for TEA (isoform 1) {ECO 0000269|PubMed 11758759, ECO 0000269|PubMed 12089365, ECO 0000269|PubMed 12538837, ECO 0000269|PubMed 15783073, ECO 0000269|PubMed 16006492, ECO 0000269|PubMed 16272756, ECO 0000269|PubMed 16394027, ECO 0000269|PubMed 9687576}; KM=63 uM for TEA (isoform 2) {ECO 0000269|PubMed 11758759, ECO 0000269|PubMed 12089365, ECO 0000269|PubMed 12538837, ECO 0000269|PubMed 15783073, ECO 0000269|PubMed 16006492, ECO 0000269|PubMed 16272756, ECO 0000269|PubMed 16394027, ECO 0000269|PubMed 9687576}; Vmax=3770 pmol/min/mg enzyme for TEA uptake (isoform 1) {ECO 0000269|PubMed 11758759, ECO 0000269|PubMed 12089365, ECO 0000269|PubMed 12538837, ECO 0000269|PubMed 15783073, ECO 0000269|PubMed 16006492, ECO 0000269|PubMed 16272756, ECO 0000269|PubMed 16394027, ECO 0000269|PubMed 9687576}; Vmax=314 pmol/min/mg enzyme for TEA uptake (isoform 2) {ECO 0000269|PubMed 11758759, ECO 0000269|PubMed 12089365, ECO 0000269|PubMed 12538837, ECO 0000269|PubMed 15783073, ECO 0000269|PubMed 16006492, ECO 0000269|PubMed 16272756, ECO 0000269|PubMed 16394027, ECO 0000269|PubMed 9687576}; Vmax=11.9 nmol/min/mg enzyme for metformin uptake {ECO 0000269|PubMed 11758759, ECO 0000269|PubMed 12089365, ECO 0000269|PubMed 12538837, ECO 0000269|PubMed 15783073, ECO 0000269|PubMed 16006492, ECO 0000269|PubMed 16272756, ECO 0000269|PubMed 16394027, ECO 0000269|PubMed 9687576}; Vmax=2170 pmol/min/mg enzyme for cimetidine uptake {ECO 0000269|PubMed 11758759, ECO 0000269|PubMed 12089365, ECO 0000269|PubMed 12538837, ECO 0000269|PubMed 15783073, ECO 0000269|PubMed 16006492, ECO 0000269|PubMed 16272756, ECO 0000269|PubMed 16394027, ECO 0000269|PubMed 9687576}; Vmax=204 pmol/min/mg enzyme for famotidine uptake {ECO 0000269|PubMed 11758759, ECO 0000269|PubMed 12089365, ECO 0000269|PubMed 12538837, ECO 0000269|PubMed 15783073, ECO 0000269|PubMed 16006492, ECO 0000269|PubMed 16272756, ECO 0000269|PubMed 16394027, ECO 0000269|PubMed 9687576}; Vmax=265 pmol/min/mg enzyme for ranitidine uptake {ECO 0000269|PubMed 11758759, ECO 0000269|PubMed 12089365, ECO 0000269|PubMed 12538837, ECO 0000269|PubMed 15783073, ECO 0000269|PubMed 16006492, ECO 0000269|PubMed 16272756, ECO 0000269|PubMed 16394027, ECO 0000269|PubMed 9687576}; # BioGrid 112469 8 # CCDS CCDS5276 -. [O15244-1] # CDD cd06174 MFS # DrugBank DB00122 Choline # DrugBank DB00152 Thiamine # DrugBank DB00184 Nicotine # DrugBank DB00206 Reserpine # DrugBank DB00242 Cladribine # DrugBank DB00264 Metoprolol # DrugBank DB00280 Disopyramide # DrugBank DB00331 Metformin # DrugBank DB00345 Aminohippurate # DrugBank DB00368 Norepinephrine # DrugBank DB00396 Progesterone # DrugBank DB00413 Pramipexole # DrugBank DB00457 Prazosin # DrugBank DB00458 Imipramine # DrugBank DB00468 Quinine # DrugBank DB00495 Zidovudine # DrugBank DB00501 Cimetidine # DrugBank DB00515 Cisplatin # DrugBank DB00526 Oxaliplatin # DrugBank DB00536 Guanidine # DrugBank DB00570 Vinblastine # DrugBank DB00571 Propranolol # DrugBank DB00594 Amiloride # DrugBank DB00619 Imatinib # DrugBank DB00667 Histamine Phosphate # DrugBank DB00668 Epinephrine # DrugBank DB00690 Flurazepam # DrugBank DB00694 Daunorubicin # DrugBank DB00709 Lamivudine # DrugBank DB00783 Estradiol # DrugBank DB00907 Cocaine # DrugBank DB00908 Quinidine # DrugBank DB00914 Phenformin # DrugBank DB00915 Amantadine # DrugBank DB00917 Dinoprostone # DrugBank DB00925 Phenoxybenzamine # DrugBank DB00927 Famotidine # DrugBank DB00987 Cytarabine # DrugBank DB00988 Dopamine # DrugBank DB01032 Probenecid # DrugBank DB01035 Procainamide # DrugBank DB01043 Memantine # DrugBank DB01075 Diphenhydramine # DrugBank DB01103 Quinacrine # DrugBank DB01114 Chlorphenamine # DrugBank DB01137 Levofloxacin # DrugBank DB01151 Desipramine # DrugBank DB01160 Dinoprost Tromethamine # DrugBank DB01199 Tubocurarine # DrugBank DB01337 Pancuronium # DrugBank DB01580 Oxprenolol # Ensembl ENST00000366953 ENSP00000355920; ENSG00000112499. [O15244-1] # ExpressionAtlas O15244 baseline and differential # FUNCTION S22A2_HUMAN Mediates tubular uptake of organic compounds from circulation. Mediates the influx of agmatine, dopamine, noradrenaline (norepinephrine), serotonin, choline, famotidine, ranitidine, histamin, creatinine, amantadine, memantine, acriflavine, 4-[4-(dimethylamino)-styryl]-N-methylpyridinium ASP, amiloride, metformin, N-1-methylnicotinamide (NMN), tetraethylammonium (TEA), 1-methyl-4-phenylpyridinium (MPP), cimetidine, cisplatin and oxaliplatin. Cisplatin may develop a nephrotoxic action. Transport of creatinine is inhibited by fluoroquinolones such as DX-619 and LVFX. This transporter is a major determinant of the anticancer activity of oxaliplatin and may contribute to antitumor specificity. {ECO 0000269|PubMed 12089365, ECO 0000269|PubMed 12538837, ECO 0000269|PubMed 15496291, ECO 0000269|PubMed 15783073, ECO 0000269|PubMed 16006492, ECO 0000269|PubMed 16272756, ECO 0000269|PubMed 16314463, ECO 0000269|PubMed 16394027, ECO 0000269|PubMed 16914559, ECO 0000269|PubMed 16951202, ECO 0000269|PubMed 17072098, ECO 0000269|PubMed 17582384, ECO 0000269|PubMed 9260930, ECO 0000269|PubMed 9687576}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0016020 membrane; TAS:ProtInc. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_component GO:0098793 presynapse; IEA:GOC. # GO_function GO:0005326 neurotransmitter transporter activity; TAS:Reactome. # GO_function GO:0005329 dopamine transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015101 organic cation transmembrane transporter activity; IDA:MGI. # GO_function GO:0015220 choline transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015651 quaternary ammonium group transmembrane transporter activity; IBA:GO_Central. # GO_process GO:0006855 drug transmembrane transport; TAS:Reactome. # GO_process GO:0007269 neurotransmitter secretion; TAS:Reactome. # GO_process GO:0007589 body fluid secretion; TAS:ProtInc. # GO_process GO:0015695 organic cation transport; IDA:MGI. # GO_process GO:0015871 choline transport; IBA:GO_Central. # GO_process GO:0015872 dopamine transport; IBA:GO_Central. # GO_process GO:0042136 neurotransmitter biosynthetic process; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0055085 transmembrane transport # Genevisible O15244 HS # HGNC HGNC:10966 SLC22A2 # INDUCTION May be down-regulated in diabetic patients. {ECO:0000269|PubMed 16314463}. # IntAct O15244 8 # InterPro IPR004749 Orgcat_transp/SVOP # InterPro IPR005828 MFS_sugar_transport-like # InterPro IPR005829 Sugar_transporter_CS # InterPro IPR020846 MFS_dom # KEGG_Brite ko02000 Transporters # KEGG_Brite ko02001 Solute carrier family # MIM 602608 gene # Organism S22A2_HUMAN Homo sapiens (Human) # PROSITE PS00216 SUGAR_TRANSPORT_1; 2 # PROSITE PS50850 MFS # Pfam PF00083 Sugar_tr # Proteomes UP000005640 Chromosome 6 # Reactome R-HSA-112311 Neurotransmitter Clearance In The Synaptic Cleft # Reactome R-HSA-181430 Norepinephrine Neurotransmitter Release Cycle # Reactome R-HSA-2161517 Abacavir transmembrane transport # Reactome R-HSA-442660 Na+/Cl- dependent neurotransmitter transporters # Reactome R-HSA-549127 Organic cation transport # RecName S22A2_HUMAN Solute carrier family 22 member 2 # RefSeq NP_003049 NM_003058.3. [O15244-1] # SIMILARITY Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family. {ECO 0000305}. # SUBCELLULAR LOCATION S22A2_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # SUPFAM SSF103473 SSF103473 # TCDB 2.A.1.19.30 the major facilitator superfamily (mfs) # TIGRFAMs TIGR00898 2A0119 # TISSUE SPECIFICITY S22A2_HUMAN Mainly expressed in kidney. Localized at the luminal membrane and basolateral membrane of kidney distal tubule and proximal tubules. To a lower extent, expressed in neurons of the cerebral cortex and in various subcortical nuclei (at protein levels). Also detected in secretory phase endometrium; in scattered cells in the stroma. {ECO 0000269|PubMed 11912245, ECO 0000269|PubMed 17393420, ECO 0000269|PubMed 9260930, ECO 0000269|PubMed 9687576}. # UCSC uc003qtf human. [O15244-1] # eggNOG COG0477 LUCA # eggNOG KOG0255 Eukaryota BLAST swissprot:S22A2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S22A2_HUMAN COXPRESdb 6582 http://coxpresdb.jp/data/gene/6582.shtml CleanEx HS_SLC22A2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC22A2 DOI 10.1002/mrd.20697 http://dx.doi.org/10.1002/mrd.20697 DOI 10.1007/s004390000309 http://dx.doi.org/10.1007/s004390000309 DOI 10.1007/s10038-006-0087-0 http://dx.doi.org/10.1007/s10038-006-0087-0 DOI 10.1007/s11095-004-1193-3 http://dx.doi.org/10.1007/s11095-004-1193-3 DOI 10.1016/S0002-9440(10)61234-5 http://dx.doi.org/10.1016/S0002-9440(10)61234-5 DOI 10.1016/j.bcp.2007.03.004 http://dx.doi.org/10.1016/j.bcp.2007.03.004 DOI 10.1016/j.ejphar.2004.09.032 http://dx.doi.org/10.1016/j.ejphar.2004.09.032 DOI 10.1023/A:1013070128668 http://dx.doi.org/10.1023/A:1013070128668 DOI 10.1038/nature02055 http://dx.doi.org/10.1038/nature02055 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1089/dna.1997.16.871 http://dx.doi.org/10.1089/dna.1997.16.871 DOI 10.1097/00008571-200207000-00007 http://dx.doi.org/10.1097/00008571-200207000-00007 DOI 10.1097/01.ASN.0000019413.78751.46 http://dx.doi.org/10.1097/01.ASN.0000019413.78751.46 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1124/jpet.102.044404 http://dx.doi.org/10.1124/jpet.102.044404 DOI 10.1124/jpet.105.088104 http://dx.doi.org/10.1124/jpet.105.088104 DOI 10.1124/jpet.106.110346 http://dx.doi.org/10.1124/jpet.106.110346 DOI 10.1152/ajpcell.00622.2005 http://dx.doi.org/10.1152/ajpcell.00622.2005 DOI 10.1158/0008-5472.CAN-06-0769 http://dx.doi.org/10.1158/0008-5472.CAN-06-0769 DOI 10.2133/dmpk.20.379 http://dx.doi.org/10.2133/dmpk.20.379 DOI 10.2133/dmpk.21.432 http://dx.doi.org/10.2133/dmpk.21.432 DrugBank DB00122 http://www.drugbank.ca/drugs/DB00122 DrugBank DB00152 http://www.drugbank.ca/drugs/DB00152 DrugBank DB00184 http://www.drugbank.ca/drugs/DB00184 DrugBank DB00206 http://www.drugbank.ca/drugs/DB00206 DrugBank DB00242 http://www.drugbank.ca/drugs/DB00242 DrugBank DB00264 http://www.drugbank.ca/drugs/DB00264 DrugBank DB00280 http://www.drugbank.ca/drugs/DB00280 DrugBank DB00331 http://www.drugbank.ca/drugs/DB00331 DrugBank DB00345 http://www.drugbank.ca/drugs/DB00345 DrugBank DB00368 http://www.drugbank.ca/drugs/DB00368 DrugBank DB00396 http://www.drugbank.ca/drugs/DB00396 DrugBank DB00413 http://www.drugbank.ca/drugs/DB00413 DrugBank DB00457 http://www.drugbank.ca/drugs/DB00457 DrugBank DB00458 http://www.drugbank.ca/drugs/DB00458 DrugBank DB00468 http://www.drugbank.ca/drugs/DB00468 DrugBank DB00495 http://www.drugbank.ca/drugs/DB00495 DrugBank DB00501 http://www.drugbank.ca/drugs/DB00501 DrugBank DB00515 http://www.drugbank.ca/drugs/DB00515 DrugBank DB00526 http://www.drugbank.ca/drugs/DB00526 DrugBank DB00536 http://www.drugbank.ca/drugs/DB00536 DrugBank DB00570 http://www.drugbank.ca/drugs/DB00570 DrugBank DB00571 http://www.drugbank.ca/drugs/DB00571 DrugBank DB00594 http://www.drugbank.ca/drugs/DB00594 DrugBank DB00619 http://www.drugbank.ca/drugs/DB00619 DrugBank DB00667 http://www.drugbank.ca/drugs/DB00667 DrugBank DB00668 http://www.drugbank.ca/drugs/DB00668 DrugBank DB00690 http://www.drugbank.ca/drugs/DB00690 DrugBank DB00694 http://www.drugbank.ca/drugs/DB00694 DrugBank DB00709 http://www.drugbank.ca/drugs/DB00709 DrugBank DB00783 http://www.drugbank.ca/drugs/DB00783 DrugBank DB00907 http://www.drugbank.ca/drugs/DB00907 DrugBank DB00908 http://www.drugbank.ca/drugs/DB00908 DrugBank DB00914 http://www.drugbank.ca/drugs/DB00914 DrugBank DB00915 http://www.drugbank.ca/drugs/DB00915 DrugBank DB00917 http://www.drugbank.ca/drugs/DB00917 DrugBank DB00925 http://www.drugbank.ca/drugs/DB00925 DrugBank DB00927 http://www.drugbank.ca/drugs/DB00927 DrugBank DB00987 http://www.drugbank.ca/drugs/DB00987 DrugBank DB00988 http://www.drugbank.ca/drugs/DB00988 DrugBank DB01032 http://www.drugbank.ca/drugs/DB01032 DrugBank DB01035 http://www.drugbank.ca/drugs/DB01035 DrugBank DB01043 http://www.drugbank.ca/drugs/DB01043 DrugBank DB01075 http://www.drugbank.ca/drugs/DB01075 DrugBank DB01103 http://www.drugbank.ca/drugs/DB01103 DrugBank DB01114 http://www.drugbank.ca/drugs/DB01114 DrugBank DB01137 http://www.drugbank.ca/drugs/DB01137 DrugBank DB01151 http://www.drugbank.ca/drugs/DB01151 DrugBank DB01160 http://www.drugbank.ca/drugs/DB01160 DrugBank DB01199 http://www.drugbank.ca/drugs/DB01199 DrugBank DB01337 http://www.drugbank.ca/drugs/DB01337 DrugBank DB01580 http://www.drugbank.ca/drugs/DB01580 EMBL AB075951 http://www.ebi.ac.uk/ena/data/view/AB075951 EMBL AJ251885 http://www.ebi.ac.uk/ena/data/view/AJ251885 EMBL AK290787 http://www.ebi.ac.uk/ena/data/view/AK290787 EMBL AL162582 http://www.ebi.ac.uk/ena/data/view/AL162582 EMBL BC030978 http://www.ebi.ac.uk/ena/data/view/BC030978 EMBL BC039899 http://www.ebi.ac.uk/ena/data/view/BC039899 EMBL CH471051 http://www.ebi.ac.uk/ena/data/view/CH471051 EMBL X98333 http://www.ebi.ac.uk/ena/data/view/X98333 Ensembl ENST00000366953 http://www.ensembl.org/id/ENST00000366953 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_component GO:0098793 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0098793 GO_function GO:0005326 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005326 GO_function GO:0005329 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005329 GO_function GO:0015101 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015101 GO_function GO:0015220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015220 GO_function GO:0015651 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015651 GO_process GO:0006855 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006855 GO_process GO:0007269 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007269 GO_process GO:0007589 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007589 GO_process GO:0015695 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015695 GO_process GO:0015871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015871 GO_process GO:0015872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015872 GO_process GO:0042136 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042136 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC22A2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC22A2 GeneID 6582 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6582 GeneTree ENSGT00760000118852 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118852 H-InvDB HIX0025014 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0025014 HGNC HGNC:10966 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10966 HOGENOM HOG000234568 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000234568&db=HOGENOM6 HOVERGEN HBG061545 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG061545&db=HOVERGEN HPA CAB068236 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB068236 HPA CAB068237 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB068237 HPA HPA008567 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA008567 InParanoid O15244 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O15244 IntAct O15244 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O15244* InterPro IPR004749 http://www.ebi.ac.uk/interpro/entry/IPR004749 InterPro IPR005828 http://www.ebi.ac.uk/interpro/entry/IPR005828 InterPro IPR005829 http://www.ebi.ac.uk/interpro/entry/IPR005829 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 6582 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6582 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:6582 http://www.genome.jp/dbget-bin/www_bget?hsa:6582 KEGG_Orthology KO:K08199 http://www.genome.jp/dbget-bin/www_bget?KO:K08199 MIM 602608 http://www.ncbi.nlm.nih.gov/omim/602608 OMA PWAASNM http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=PWAASNM OrthoDB EOG091G05AC http://cegg.unige.ch/orthodb/results?searchtext=EOG091G05AC PROSITE PS00216 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00216 PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PSORT swissprot:S22A2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S22A2_HUMAN PSORT-B swissprot:S22A2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S22A2_HUMAN PSORT2 swissprot:S22A2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S22A2_HUMAN Pfam PF00083 http://pfam.xfam.org/family/PF00083 PharmGKB PA331 http://www.pharmgkb.org/do/serve?objId=PA331&objCls=Gene Phobius swissprot:S22A2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S22A2_HUMAN PhylomeDB O15244 http://phylomedb.org/?seqid=O15244 ProteinModelPortal O15244 http://www.proteinmodelportal.org/query/uniprot/O15244 PubMed 10942111 http://www.ncbi.nlm.nih.gov/pubmed/10942111 PubMed 11758759 http://www.ncbi.nlm.nih.gov/pubmed/11758759 PubMed 11912245 http://www.ncbi.nlm.nih.gov/pubmed/11912245 PubMed 12089365 http://www.ncbi.nlm.nih.gov/pubmed/12089365 PubMed 12142729 http://www.ncbi.nlm.nih.gov/pubmed/12142729 PubMed 12538837 http://www.ncbi.nlm.nih.gov/pubmed/12538837 PubMed 14574404 http://www.ncbi.nlm.nih.gov/pubmed/14574404 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15496291 http://www.ncbi.nlm.nih.gov/pubmed/15496291 PubMed 15783073 http://www.ncbi.nlm.nih.gov/pubmed/15783073 PubMed 16006492 http://www.ncbi.nlm.nih.gov/pubmed/16006492 PubMed 16272756 http://www.ncbi.nlm.nih.gov/pubmed/16272756 PubMed 16314463 http://www.ncbi.nlm.nih.gov/pubmed/16314463 PubMed 16394027 http://www.ncbi.nlm.nih.gov/pubmed/16394027 PubMed 16914559 http://www.ncbi.nlm.nih.gov/pubmed/16914559 PubMed 16951202 http://www.ncbi.nlm.nih.gov/pubmed/16951202 PubMed 17072098 http://www.ncbi.nlm.nih.gov/pubmed/17072098 PubMed 17111267 http://www.ncbi.nlm.nih.gov/pubmed/17111267 PubMed 17393420 http://www.ncbi.nlm.nih.gov/pubmed/17393420 PubMed 17582384 http://www.ncbi.nlm.nih.gov/pubmed/17582384 PubMed 9260930 http://www.ncbi.nlm.nih.gov/pubmed/9260930 PubMed 9687576 http://www.ncbi.nlm.nih.gov/pubmed/9687576 Reactome R-HSA-112311 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-112311 Reactome R-HSA-181430 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-181430 Reactome R-HSA-2161517 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2161517 Reactome R-HSA-442660 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-442660 Reactome R-HSA-549127 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-549127 RefSeq NP_003049 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_003049 STRING 9606.ENSP00000355920 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000355920&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.1.19.30 http://www.tcdb.org/search/result.php?tc=2.A.1.19.30 TIGRFAMs TIGR00898 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00898 UCSC uc003qtf http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003qtf&org=rat UniGene Hs.436385 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.436385 UniProtKB S22A2_HUMAN http://www.uniprot.org/uniprot/S22A2_HUMAN UniProtKB-AC O15244 http://www.uniprot.org/uniprot/O15244 charge swissprot:S22A2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S22A2_HUMAN eggNOG COG0477 http://eggnogapi.embl.de/nog_data/html/tree/COG0477 eggNOG KOG0255 http://eggnogapi.embl.de/nog_data/html/tree/KOG0255 epestfind swissprot:S22A2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S22A2_HUMAN garnier swissprot:S22A2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S22A2_HUMAN helixturnhelix swissprot:S22A2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S22A2_HUMAN hmoment swissprot:S22A2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S22A2_HUMAN iep swissprot:S22A2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S22A2_HUMAN inforesidue swissprot:S22A2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S22A2_HUMAN neXtProt NX_O15244 http://www.nextprot.org/db/entry/NX_O15244 octanol swissprot:S22A2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S22A2_HUMAN pepcoil swissprot:S22A2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S22A2_HUMAN pepdigest swissprot:S22A2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S22A2_HUMAN pepinfo swissprot:S22A2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S22A2_HUMAN pepnet swissprot:S22A2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S22A2_HUMAN pepstats swissprot:S22A2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S22A2_HUMAN pepwheel swissprot:S22A2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S22A2_HUMAN pepwindow swissprot:S22A2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S22A2_HUMAN sigcleave swissprot:S22A2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S22A2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS NPT1_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q14916-1; Sequence=Displayed; Name=2; IsoId=Q14916-2; Sequence=VSP_035012; Note=No experimental confirmation available.; # AltName NPT1_HUMAN Na(+)/PI cotransporter 1 # AltName NPT1_HUMAN Na/Pi-4 # AltName NPT1_HUMAN Renal Na(+)-dependent phosphate cotransporter 1 # AltName NPT1_HUMAN Renal sodium-dependent phosphate transport protein 1 # AltName NPT1_HUMAN Sodium/phosphate cotransporter 1 # AltName NPT1_HUMAN Solute carrier family 17 member 1 # BioGrid 112456 2 # CAUTION It is uncertain whether Met-1 or Met-3 is the initiator. {ECO 0000305}. # CCDS CCDS4565 -. [Q14916-1] # CDD cd06174 MFS # Ensembl ENST00000244527 ENSP00000244527; ENSG00000124568. [Q14916-1] # Ensembl ENST00000468082 ENSP00000420546; ENSG00000124568. [Q14916-2] # Ensembl ENST00000476801 ENSP00000420614; ENSG00000124568. [Q14916-1] # ExpressionAtlas Q14916 baseline and differential # FUNCTION NPT1_HUMAN Important for the resorption of phosphate by the kidney. May be involved in actively transporting phosphate into cells via Na(+) cotransport in the renal brush border membrane. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0016020 membrane; TAS:ProtInc. # GO_function GO:0015321 sodium-dependent phosphate transmembrane transporter activity; TAS:Reactome. # GO_function NPT1_HUMAN GO 0005436 sodium phosphate symporter activity; IBA GO_Central. # GO_process GO:0006811 ion transport; TAS:Reactome. # GO_process GO:0006817 phosphate ion transport; TAS:ProtInc. # GO_process GO:0035725 sodium ion transmembrane transport; IBA:GO_Central. # GO_process GO:0046415 urate metabolic process; IMP:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0044281 small molecule metabolic process # GOslim_process GO:0055085 transmembrane transport # Genevisible Q14916 HS # HGNC HGNC:10929 SLC17A1 # InterPro IPR004745 Pi_cotranspt # InterPro IPR011701 MFS # InterPro IPR020846 MFS_dom # KEGG_Brite ko02000 Transporters # KEGG_Brite ko02001 Solute carrier family # MIM 182308 gene # Organism NPT1_HUMAN Homo sapiens (Human) # PIR A48916 A48916 # PIR I39473 I39473 # PROSITE PS50850 MFS # Pfam PF07690 MFS_1 # Proteomes UP000005640 Chromosome 6 # Reactome R-HSA-428643 Organic anion transporters # RecName NPT1_HUMAN Sodium-dependent phosphate transport protein 1 # RefSeq NP_005065 NM_005074.3. [Q14916-1] # SEQUENCE CAUTION Sequence=BAA05888.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAI19543.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the major facilitator superfamily. Sodium/anion cotransporter family. {ECO 0000305}. # SUBCELLULAR LOCATION NPT1_HUMAN Membrane; Multi-pass membrane protein. # SUBUNIT Interacts with PDZK1. {ECO 0000250}. # SUPFAM SSF103473 SSF103473 # TCDB 2.A.1.14.27 the major facilitator superfamily (mfs) # TIGRFAMs TIGR00894 2A0114euk # TISSUE SPECIFICITY NPT1_HUMAN Expressed in kidney cortex, liver and brain but not in other tissues. # UCSC uc003nfh human. [Q14916-1] # eggNOG ENOG410XPWC LUCA # eggNOG KOG2532 Eukaryota BLAST swissprot:NPT1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:NPT1_HUMAN BioCyc ZFISH:ENSG00000124568-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000124568-MONOMER COXPRESdb 6568 http://coxpresdb.jp/data/gene/6568.shtml CleanEx HS_SLC17A1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC17A1 DOI 10.1006/geno.1993.1476 http://dx.doi.org/10.1006/geno.1993.1476 DOI 10.1016/S0167-4781(97)00231-5 http://dx.doi.org/10.1016/S0167-4781(97)00231-5 DOI 10.1038/nature02055 http://dx.doi.org/10.1038/nature02055 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1042/bj3050081 http://dx.doi.org/10.1042/bj3050081 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AF362490 http://www.ebi.ac.uk/ena/data/view/AF362490 EMBL AF362492 http://www.ebi.ac.uk/ena/data/view/AF362492 EMBL AF362494 http://www.ebi.ac.uk/ena/data/view/AF362494 EMBL AK290783 http://www.ebi.ac.uk/ena/data/view/AK290783 EMBL AL138726 http://www.ebi.ac.uk/ena/data/view/AL138726 EMBL AY780791 http://www.ebi.ac.uk/ena/data/view/AY780791 EMBL BC101745 http://www.ebi.ac.uk/ena/data/view/BC101745 EMBL BC101747 http://www.ebi.ac.uk/ena/data/view/BC101747 EMBL CH471087 http://www.ebi.ac.uk/ena/data/view/CH471087 EMBL D28532 http://www.ebi.ac.uk/ena/data/view/D28532 EMBL D83236 http://www.ebi.ac.uk/ena/data/view/D83236 EMBL X71355 http://www.ebi.ac.uk/ena/data/view/X71355 Ensembl ENST00000244527 http://www.ensembl.org/id/ENST00000244527 Ensembl ENST00000468082 http://www.ensembl.org/id/ENST00000468082 Ensembl ENST00000476801 http://www.ensembl.org/id/ENST00000476801 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_function GO:0005436 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005436 GO_function GO:0015321 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015321 GO_process GO:0006811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006811 GO_process GO:0006817 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006817 GO_process GO:0035725 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035725 GO_process GO:0046415 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046415 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC17A1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC17A1 GeneID 6568 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6568 GeneTree ENSGT00760000119079 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119079 HGNC HGNC:10929 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10929 HOVERGEN HBG008834 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG008834&db=HOVERGEN InParanoid Q14916 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q14916 InterPro IPR004745 http://www.ebi.ac.uk/interpro/entry/IPR004745 InterPro IPR011701 http://www.ebi.ac.uk/interpro/entry/IPR011701 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 6568 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6568 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:6568 http://www.genome.jp/dbget-bin/www_bget?hsa:6568 KEGG_Orthology KO:K12300 http://www.genome.jp/dbget-bin/www_bget?KO:K12300 MIM 182308 http://www.ncbi.nlm.nih.gov/omim/182308 OMA CLNLTMV http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=CLNLTMV OrthoDB EOG091G08YP http://cegg.unige.ch/orthodb/results?searchtext=EOG091G08YP PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PSORT swissprot:NPT1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:NPT1_HUMAN PSORT-B swissprot:NPT1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:NPT1_HUMAN PSORT2 swissprot:NPT1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:NPT1_HUMAN Pfam PF07690 http://pfam.xfam.org/family/PF07690 PharmGKB PA35820 http://www.pharmgkb.org/do/serve?objId=PA35820&objCls=Gene Phobius swissprot:NPT1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:NPT1_HUMAN PhylomeDB Q14916 http://phylomedb.org/?seqid=Q14916 ProteinModelPortal Q14916 http://www.proteinmodelportal.org/query/uniprot/Q14916 PubMed 11704559 http://www.ncbi.nlm.nih.gov/pubmed/11704559 PubMed 14574404 http://www.ncbi.nlm.nih.gov/pubmed/14574404 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 7826357 http://www.ncbi.nlm.nih.gov/pubmed/7826357 PubMed 8288239 http://www.ncbi.nlm.nih.gov/pubmed/8288239 PubMed 9545579 http://www.ncbi.nlm.nih.gov/pubmed/9545579 Reactome R-HSA-428643 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-428643 RefSeq NP_005065 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_005065 STRING 9606.ENSP00000244527 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000244527&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.1.14.27 http://www.tcdb.org/search/result.php?tc=2.A.1.14.27 TIGRFAMs TIGR00894 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00894 UCSC uc003nfh http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003nfh&org=rat UniGene Hs.205816 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.205816 UniProtKB NPT1_HUMAN http://www.uniprot.org/uniprot/NPT1_HUMAN UniProtKB-AC Q14916 http://www.uniprot.org/uniprot/Q14916 charge swissprot:NPT1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:NPT1_HUMAN eggNOG ENOG410XPWC http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XPWC eggNOG KOG2532 http://eggnogapi.embl.de/nog_data/html/tree/KOG2532 epestfind swissprot:NPT1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:NPT1_HUMAN garnier swissprot:NPT1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:NPT1_HUMAN helixturnhelix swissprot:NPT1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:NPT1_HUMAN hmoment swissprot:NPT1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:NPT1_HUMAN iep swissprot:NPT1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:NPT1_HUMAN inforesidue swissprot:NPT1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:NPT1_HUMAN neXtProt NX_Q14916 http://www.nextprot.org/db/entry/NX_Q14916 octanol swissprot:NPT1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:NPT1_HUMAN pepcoil swissprot:NPT1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:NPT1_HUMAN pepdigest swissprot:NPT1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:NPT1_HUMAN pepinfo swissprot:NPT1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:NPT1_HUMAN pepnet swissprot:NPT1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:NPT1_HUMAN pepstats swissprot:NPT1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:NPT1_HUMAN pepwheel swissprot:NPT1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:NPT1_HUMAN pepwindow swissprot:NPT1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:NPT1_HUMAN sigcleave swissprot:NPT1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:NPT1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q92796-1; Sequence=Displayed; Name=2; IsoId=Q92796-2; Sequence=VSP_035940, VSP_035941, VSP_035942; Note=No experimental confirmation available.; Name=3; IsoId=Q92796-3; Sequence=VSP_043717, VSP_035942; Note=No experimental confirmation available. Contains a N-acetylmethionine at position 1. Initiator Met-1 is removed. Contains a N-acetylmethionine at position 2. {ECO:0000244|PubMed 22814378}; # AltName DLG3_HUMAN Neuroendocrine-DLG # AltName DLG3_HUMAN Synapse-associated protein 102 # AltName DLG3_HUMAN XLMR # BioGrid 108085 60 # CCDS CCDS14403 -. [Q92796-1] # CCDS CCDS43967 -. [Q92796-2] # CCDS CCDS55439 -. [Q92796-3] # ChiTaRS DLG3 human # DISEASE DLG3_HUMAN Mental retardation, X-linked 90 (MRX90) [MIM 300850] A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non- syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. {ECO 0000269|PubMed 15185169}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000374355 ENSP00000363475; ENSG00000082458. [Q92796-2] # Ensembl ENST00000374360 ENSP00000363480; ENSG00000082458. [Q92796-1] # Ensembl ENST00000542398 ENSP00000441393; ENSG00000082458. [Q92796-3] # ExpressionAtlas Q92796 baseline and differential # FUNCTION DLG3_HUMAN Required for learning most likely through its role in synaptic plasticity following NMDA receptor signaling. # GO_component GO:0005615 extracellular space; IDA:UniProtKB. # GO_component GO:0005737 cytoplasm; IEA:Ensembl. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005923 bicellular tight junction; IEA:Ensembl. # GO_component GO:0014069 postsynaptic density; IBA:GO_Central. # GO_component GO:0016323 basolateral plasma membrane; IBA:GO_Central. # GO_component GO:0030426 growth cone; IEA:Ensembl. # GO_component GO:0032281 AMPA glutamate receptor complex; IEA:Ensembl. # GO_component GO:0043025 neuronal cell body; IEA:Ensembl. # GO_component GO:0043198 dendritic shaft; IEA:Ensembl. # GO_component GO:0045211 postsynaptic membrane; IBA:GO_Central. # GO_function GO:0004385 guanylate kinase activity; IBA:GO_Central. # GO_function GO:0015276 ligand-gated ion channel activity; TAS:Reactome. # GO_function GO:0019900 kinase binding; IDA:MGI. # GO_function GO:0019902 phosphatase binding; IDA:UniProtKB. # GO_function GO:0035255 ionotropic glutamate receptor binding; IBA:GO_Central. # GO_process GO:0001736 establishment of planar polarity; IEA:Ensembl. # GO_process GO:0007268 chemical synaptic transmission; IBA:GO_Central. # GO_process GO:0007399 nervous system development; IBA:GO_Central. # GO_process GO:0008285 negative regulation of cell proliferation; NAS:UniProtKB. # GO_process GO:0010923 negative regulation of phosphatase activity; IDA:UniProtKB. # GO_process GO:0043113 receptor clustering; IBA:GO_Central. # GO_process GO:0045197 establishment or maintenance of epithelial cell apical/basal polarity; IBA:GO_Central. # GO_process GO:0097120 receptor localization to synapse; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005615 extracellular space # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0016301 kinase activity # GOslim_function GO:0019899 enzyme binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0061024 membrane organization # Gene3D 2.30.42.10 -; 3. # Gene3D 3.40.50.300 -; 2. # Genevisible Q92796 HS # HGNC HGNC:2902 DLG3 # INTERACTION DLG3_HUMAN P62136 PPP1CA; NbExp=2; IntAct=EBI-80440, EBI-357253; # IntAct Q92796 25 # InterPro IPR001452 SH3_domain # InterPro IPR001478 PDZ # InterPro IPR008144 Guanylate_kin-like_dom # InterPro IPR008145 GK/Ca_channel_bsu # InterPro IPR016313 DLG1 # InterPro IPR019583 PDZ_assoc # InterPro IPR019590 DLG1_PEST_dom # InterPro IPR020590 Guanylate_kinase_CS # InterPro IPR027417 P-loop_NTPase # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Disease H00480 [Congenital disorder; Mental retardation] Non-syndromic X-linked mental retardation # KEGG_Pathway ko04390 Hippo signaling pathway # MIM 300189 gene # MIM 300850 phenotype # Organism DLG3_HUMAN Homo sapiens (Human) # Orphanet 777 X-linked non-syndromic intellectual disability # PDB 1UM7 NMR; -; A=382-475 # PDB 2FE5 X-ray; 1.10 A; A=223-314 # PDB 2I1N X-ray; 1.85 A; A/B=126-222 # PIRSF PIRSF001741 MAGUK_DLGH # PROSITE PS00856 GUANYLATE_KINASE_1 # PROSITE PS50002 SH3 # PROSITE PS50052 GUANYLATE_KINASE_2 # PROSITE PS50106 PDZ; 3 # Pfam PF00018 SH3_1 # Pfam PF00595 PDZ; 3 # Pfam PF00625 Guanylate_kin # Pfam PF10600 PDZ_assoc # Proteomes UP000005640 Chromosome X # Reactome R-HSA-447038 NrCAM interactions # Reactome R-HSA-451308 Activation of Ca-permeable Kainate Receptor # Reactome R-HSA-6794361 Interactions of neurexins and neuroligins at synapses # Reactome R-HSA-8849932 SALM protein interactions at the synapses # RecName DLG3_HUMAN Disks large homolog 3 # RefSeq NP_001159750 NM_001166278.1. [Q92796-3] # RefSeq NP_065781 NM_020730.2. [Q92796-2] # RefSeq NP_066943 NM_021120.3. [Q92796-1] # RefSeq XP_005262305 XM_005262248.3. [Q92796-3] # RefSeq XP_016884815 XM_017029326.1. [Q92796-3] # SEQUENCE CAUTION Sequence=BAA86546.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the MAGUK family. {ECO 0000305}. # SIMILARITY Contains 1 SH3 domain. {ECO:0000255|PROSITE- ProRule PRU00192}. # SIMILARITY Contains 1 guanylate kinase-like domain. {ECO:0000255|PROSITE-ProRule PRU00100}. # SIMILARITY Contains 3 PDZ (DHR) domains. {ECO:0000255|PROSITE- ProRule PRU00143}. # SMART SM00072 GuKc # SMART SM00228 PDZ; 3 # SMART SM00326 SH3 # SMART SM01277 MAGUK_N_PEST # SUBUNIT DLG3_HUMAN Interacts through its PDZ domains with NETO1, GRIN2B and SYNGAP1. Interacts through its guanylate kinase-like domain with DLGAP1, DLGAP2, DLGAP3 and DLGAP4. Interacts with FLTP/C1orf192 (By similarity). Interacts through its PDZ domains with APC. Interacts through its first two PDZ domains with ERBB4. Interacts through its third PDZ domain with NLGN1, and probably with NLGN2 and NLGN3. Interacts with FRMPD4 (via C-terminus). Interacts with LRFN1, LRFN2 and LRFN4. {ECO 0000250|UniProtKB P70175, ECO 0000269|PubMed 10725395, ECO 0000269|PubMed 16630835, ECO 0000269|PubMed 19118189, ECO 0000269|PubMed 9188857, ECO 0000269|PubMed 9278515}. # SUPFAM SSF50044 SSF50044; 2 # SUPFAM SSF50156 SSF50156; 3 # SUPFAM SSF52540 SSF52540 # UCSC uc004dyi human. [Q92796-1] # eggNOG COG0194 LUCA # eggNOG KOG0708 Eukaryota BLAST swissprot:DLG3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:DLG3_HUMAN BioCyc ZFISH:ENSG00000082458-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000082458-MONOMER COXPRESdb 1741 http://coxpresdb.jp/data/gene/1741.shtml CleanEx HS_DLG3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_DLG3 DOI 10.1016/j.neuron.2006.04.005 http://dx.doi.org/10.1016/j.neuron.2006.04.005 DOI 10.1038/nature03440 http://dx.doi.org/10.1038/nature03440 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1038/sj.onc.1201087 http://dx.doi.org/10.1038/sj.onc.1201087 DOI 10.1073/pnas.1210303109 http://dx.doi.org/10.1073/pnas.1210303109 DOI 10.1073/pnas.97.7.3596 http://dx.doi.org/10.1073/pnas.97.7.3596 DOI 10.1086/422703 http://dx.doi.org/10.1086/422703 DOI 10.1093/dnares/6.5.337 http://dx.doi.org/10.1093/dnares/6.5.337 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1133427 http://dx.doi.org/10.1126/science.1133427 DOI 10.1126/science.277.5331.1511 http://dx.doi.org/10.1126/science.277.5331.1511 DOI 10.1126/scisignal.2001570 http://dx.doi.org/10.1126/scisignal.2001570 DOI 10.1523/JNEUROSCI.3112-08.2008 http://dx.doi.org/10.1523/JNEUROSCI.3112-08.2008 EMBL AB033058 http://www.ebi.ac.uk/ena/data/view/AB033058 EMBL AK303377 http://www.ebi.ac.uk/ena/data/view/AK303377 EMBL AK304020 http://www.ebi.ac.uk/ena/data/view/AK304020 EMBL AK316518 http://www.ebi.ac.uk/ena/data/view/AK316518 EMBL AL139109 http://www.ebi.ac.uk/ena/data/view/AL139109 EMBL AL139398 http://www.ebi.ac.uk/ena/data/view/AL139398 EMBL AL139398 http://www.ebi.ac.uk/ena/data/view/AL139398 EMBL BC093864 http://www.ebi.ac.uk/ena/data/view/BC093864 EMBL BC093866 http://www.ebi.ac.uk/ena/data/view/BC093866 EMBL CH471132 http://www.ebi.ac.uk/ena/data/view/CH471132 EMBL CH471132 http://www.ebi.ac.uk/ena/data/view/CH471132 EMBL CH471132 http://www.ebi.ac.uk/ena/data/view/CH471132 EMBL CH471132 http://www.ebi.ac.uk/ena/data/view/CH471132 EMBL U49089 http://www.ebi.ac.uk/ena/data/view/U49089 Ensembl ENST00000374355 http://www.ensembl.org/id/ENST00000374355 Ensembl ENST00000374360 http://www.ensembl.org/id/ENST00000374360 Ensembl ENST00000542398 http://www.ensembl.org/id/ENST00000542398 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005615 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005615 GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005923 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005923 GO_component GO:0014069 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014069 GO_component GO:0016323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016323 GO_component GO:0030426 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030426 GO_component GO:0032281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032281 GO_component GO:0043025 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043025 GO_component GO:0043198 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043198 GO_component GO:0045211 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045211 GO_function GO:0004385 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004385 GO_function GO:0015276 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015276 GO_function GO:0019900 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019900 GO_function GO:0019902 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019902 GO_function GO:0035255 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035255 GO_process GO:0001736 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001736 GO_process GO:0007268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007268 GO_process GO:0007399 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007399 GO_process GO:0008285 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008285 GO_process GO:0010923 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010923 GO_process GO:0043113 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043113 GO_process GO:0045197 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045197 GO_process GO:0097120 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097120 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005615 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005615 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0016301 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016301 GOslim_function GO:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0061024 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061024 Gene3D 2.30.42.10 http://www.cathdb.info/version/latest/superfamily/2.30.42.10 Gene3D 3.40.50.300 http://www.cathdb.info/version/latest/superfamily/3.40.50.300 GeneCards DLG3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=DLG3 GeneID 1741 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=1741 GeneTree ENSGT00760000118866 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118866 H-InvDB HIX0016853 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0016853 HGNC HGNC:2902 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:2902 HOGENOM HOG000232102 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000232102&db=HOGENOM6 HOVERGEN HBG107814 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG107814&db=HOVERGEN HPA HPA001733 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA001733 InParanoid Q92796 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q92796 IntAct Q92796 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q92796* InterPro IPR001452 http://www.ebi.ac.uk/interpro/entry/IPR001452 InterPro IPR001478 http://www.ebi.ac.uk/interpro/entry/IPR001478 InterPro IPR008144 http://www.ebi.ac.uk/interpro/entry/IPR008144 InterPro IPR008145 http://www.ebi.ac.uk/interpro/entry/IPR008145 InterPro IPR016313 http://www.ebi.ac.uk/interpro/entry/IPR016313 InterPro IPR019583 http://www.ebi.ac.uk/interpro/entry/IPR019583 InterPro IPR019590 http://www.ebi.ac.uk/interpro/entry/IPR019590 InterPro IPR020590 http://www.ebi.ac.uk/interpro/entry/IPR020590 InterPro IPR027417 http://www.ebi.ac.uk/interpro/entry/IPR027417 Jabion 1741 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=1741 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Disease H00480 http://www.genome.jp/dbget-bin/www_bget?H00480 KEGG_Gene hsa:1741 http://www.genome.jp/dbget-bin/www_bget?hsa:1741 KEGG_Orthology KO:K12075 http://www.genome.jp/dbget-bin/www_bget?KO:K12075 KEGG_Pathway ko04390 http://www.genome.jp/kegg-bin/show_pathway?ko04390 MIM 300189 http://www.ncbi.nlm.nih.gov/omim/300189 MIM 300850 http://www.ncbi.nlm.nih.gov/omim/300850 MINT MINT-109320 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-109320 OMA ASQRWAW http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=ASQRWAW Orphanet 777 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=777 PDB 1UM7 http://www.ebi.ac.uk/pdbe-srv/view/entry/1UM7 PDB 2FE5 http://www.ebi.ac.uk/pdbe-srv/view/entry/2FE5 PDB 2I1N http://www.ebi.ac.uk/pdbe-srv/view/entry/2I1N PDBsum 1UM7 http://www.ebi.ac.uk/pdbsum/1UM7 PDBsum 2FE5 http://www.ebi.ac.uk/pdbsum/2FE5 PDBsum 2I1N http://www.ebi.ac.uk/pdbsum/2I1N PROSITE PS00856 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00856 PROSITE PS50002 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50002 PROSITE PS50052 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50052 PROSITE PS50106 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50106 PSORT swissprot:DLG3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:DLG3_HUMAN PSORT-B swissprot:DLG3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:DLG3_HUMAN PSORT2 swissprot:DLG3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:DLG3_HUMAN Pfam PF00018 http://pfam.xfam.org/family/PF00018 Pfam PF00595 http://pfam.xfam.org/family/PF00595 Pfam PF00625 http://pfam.xfam.org/family/PF00625 Pfam PF10600 http://pfam.xfam.org/family/PF10600 PharmGKB PA164741439 http://www.pharmgkb.org/do/serve?objId=PA164741439&objCls=Gene Phobius swissprot:DLG3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:DLG3_HUMAN PhylomeDB Q92796 http://phylomedb.org/?seqid=Q92796 ProteinModelPortal Q92796 http://www.proteinmodelportal.org/query/uniprot/Q92796 PubMed 10574462 http://www.ncbi.nlm.nih.gov/pubmed/10574462 PubMed 10725395 http://www.ncbi.nlm.nih.gov/pubmed/10725395 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15185169 http://www.ncbi.nlm.nih.gov/pubmed/15185169 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15772651 http://www.ncbi.nlm.nih.gov/pubmed/15772651 PubMed 16630835 http://www.ncbi.nlm.nih.gov/pubmed/16630835 PubMed 16959974 http://www.ncbi.nlm.nih.gov/pubmed/16959974 PubMed 19118189 http://www.ncbi.nlm.nih.gov/pubmed/19118189 PubMed 21406692 http://www.ncbi.nlm.nih.gov/pubmed/21406692 PubMed 22814378 http://www.ncbi.nlm.nih.gov/pubmed/22814378 PubMed 9188857 http://www.ncbi.nlm.nih.gov/pubmed/9188857 PubMed 9278515 http://www.ncbi.nlm.nih.gov/pubmed/9278515 Reactome R-HSA-447038 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-447038 Reactome R-HSA-451308 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-451308 Reactome R-HSA-6794361 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6794361 Reactome R-HSA-8849932 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-8849932 RefSeq NP_001159750 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001159750 RefSeq NP_065781 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_065781 RefSeq NP_066943 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_066943 RefSeq XP_005262305 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005262305 RefSeq XP_016884815 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016884815 SMART SM00072 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00072 SMART SM00228 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00228 SMART SM00326 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00326 SMART SM01277 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM01277 SMR Q92796 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q92796 STRING 9606.ENSP00000363480 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000363480&targetmode=cogs SUPFAM SSF50044 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF50044 SUPFAM SSF50156 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF50156 SUPFAM SSF52540 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52540 UCSC uc004dyi http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc004dyi&org=rat UniGene Hs.721586 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.721586 UniProtKB DLG3_HUMAN http://www.uniprot.org/uniprot/DLG3_HUMAN UniProtKB-AC Q92796 http://www.uniprot.org/uniprot/Q92796 charge swissprot:DLG3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:DLG3_HUMAN eggNOG COG0194 http://eggnogapi.embl.de/nog_data/html/tree/COG0194 eggNOG KOG0708 http://eggnogapi.embl.de/nog_data/html/tree/KOG0708 epestfind swissprot:DLG3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:DLG3_HUMAN garnier swissprot:DLG3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:DLG3_HUMAN helixturnhelix swissprot:DLG3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:DLG3_HUMAN hmoment swissprot:DLG3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:DLG3_HUMAN iep swissprot:DLG3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:DLG3_HUMAN inforesidue swissprot:DLG3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:DLG3_HUMAN neXtProt NX_Q92796 http://www.nextprot.org/db/entry/NX_Q92796 octanol swissprot:DLG3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:DLG3_HUMAN pepcoil swissprot:DLG3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:DLG3_HUMAN pepdigest swissprot:DLG3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:DLG3_HUMAN pepinfo swissprot:DLG3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:DLG3_HUMAN pepnet swissprot:DLG3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:DLG3_HUMAN pepstats swissprot:DLG3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:DLG3_HUMAN pepwheel swissprot:DLG3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:DLG3_HUMAN pepwindow swissprot:DLG3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:DLG3_HUMAN sigcleave swissprot:DLG3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:DLG3_HUMAN ## Database ID URL or Descriptions # AltName TRPA1_HUMAN Ankyrin-like with transmembrane domains protein 1 # AltName TRPA1_HUMAN Transformation-sensitive protein p120 # DISEASE TRPA1_HUMAN Episodic pain syndrome, familial, 1 (FEPS1) [MIM 615040] An autosomal dominant neurologic disorder characterized by onset in infancy of episodic debilitating upper body pain triggered by fasting, cold, and physical stress. The period of intense pain is accompanied by breathing difficulties, tachycardia, sweating, generalized pallor, peribuccal cyanosis, and stiffness of the abdominal wall. Affected individuals do not manifest altered pain sensitivity outside the episodes. {ECO 0000269|PubMed 20547126}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DOMAIN TRPA1_HUMAN C-terminal helices from the four subunits associate to form atypical coiled coil structure; this region is probably involved in binding the inositol polyphosphates that are required for optimal channel activity (in vitro). {ECO 0000305|PubMed 25855297}. # DOMAIN TRPA1_HUMAN The ANK repeat domain consists of a convex stem structure formed by five ANK repeats and 11 additional ANK repeats that form a crescent-shaped structure that surrounds the protein core. {ECO 0000269|PubMed 25855297}. # DrugBank DB00825 Menthol # ENZYME REGULATION Inhibited by ruthenium red, a potent blocker of TRPV channels. {ECO:0000269|PubMed 20547126}. # Ensembl ENST00000262209 ENSP00000262209; ENSG00000104321 # ExpressionAtlas O75762 baseline and differential # FUNCTION TRPA1_HUMAN Receptor-activated non-selective cation channel involved in detection of pain and possibly also in cold perception and inner ear function (PubMed 25389312, PubMed 25855297). Has a central role in the pain response to endogenous inflammatory mediators and to a diverse array of volatile irritants, such as mustard oil, cinnamaldehyde, garlic and acrolein, an irritant from tears gas and vehicule exhaust fumes (PubMed 25389312, PubMed 20547126). Is also activated by menthol (in vitro)(PubMed 25389312). Acts also as a ionotropic cannabinoid receptor by being activated by delta(9)-tetrahydrocannabinol (THC), the psychoactive component of marijuana (PubMed 25389312). May be a component for the mechanosensitive transduction channel of hair cells in inner ear, thereby participating in the perception of sounds. Probably operated by a phosphatidylinositol second messenger system (By similarity). {ECO 0000250|UniProtKB Q8BLA8, ECO 0000269|PubMed 20547126, ECO 0000269|PubMed 25389312, ECO 0000269|PubMed 25855297}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IMP:UniProtKB. # GO_component GO:0032421 stereocilium bundle; IEA:Ensembl. # GO_function GO:0005262 calcium channel activity; TAS:Reactome. # GO_function GO:0015267 channel activity; TAS:ProtInc. # GO_function GO:0015278 calcium-release channel activity; IDA:UniProtKB. # GO_function GO:0097604 temperature-gated cation channel activity; IDA:UniProtKB. # GO_process GO:0006811 ion transport; TAS:ProtInc. # GO_process GO:0007166 cell surface receptor signaling pathway; IEA:Ensembl. # GO_process GO:0009409 response to cold; IEA:Ensembl. # GO_process GO:0010033 response to organic substance; IMP:UniProtKB. # GO_process GO:0014070 response to organic cyclic compound; IEA:Ensembl. # GO_process GO:0019233 sensory perception of pain; IMP:UniProtKB. # GO_process GO:0042493 response to drug; IEA:Ensembl. # GO_process GO:0042542 response to hydrogen peroxide; IEA:Ensembl. # GO_process GO:0048265 response to pain; IEA:Ensembl. # GO_process GO:0050955 thermoception; IEA:Ensembl. # GO_process GO:0050966 detection of mechanical stimulus involved in sensory perception of pain; IEA:Ensembl. # GO_process GO:0050968 detection of chemical stimulus involved in sensory perception of pain; IEA:Ensembl. # GO_process GO:0051289 protein homotetramerization; IDA:UniProtKB. # GO_process GO:0070588 calcium ion transmembrane transport; IMP:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0050877 neurological system process # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.25.40.20 -; 4. # Genevisible O75762 HS # HGNC HGNC:497 TRPA1 # IntAct O75762 2 # InterPro IPR002110 Ankyrin_rpt # InterPro IPR005821 Ion_trans_dom # InterPro IPR020683 Ankyrin_rpt-contain_dom # KEGG_Brite ko04040 Ion channels # KEGG_Disease H01391 [Nervous system disease] Familial episodic pain syndrome (FEPS) # MIM 604775 gene # MIM 615040 phenotype # Organism TRPA1_HUMAN Homo sapiens (Human) # Orphanet 391389 Familial episodic pain syndrome with predominantly upper body involvement # PDB 3J9P EM; 4.24 A; A/B/C/D=2-1119 # PRINTS PR01415 ANKYRIN # PROSITE PS50088 ANK_REPEAT; 9 # PROSITE PS50297 ANK_REP_REGION # PTM TRPA1_HUMAN TRPA1 activation by electrophiles occurs though covalent modification of specific cysteine residues in the N-terminal cytoplasmic domain. {ECO 0000305|PubMed 25389312}. # Pfam PF00520 Ion_trans # Pfam PF12796 Ank_2; 6 # Proteomes UP000005640 Chromosome 8 # Reactome R-HSA-3295583 TRP channels # RecName TRPA1_HUMAN Transient receptor potential cation channel subfamily A member 1 # RefSeq NP_015628 NM_007332.2 # RefSeq XP_011515927 XM_011517625.2 # RefSeq XP_016869435 XM_017013946.1 # SIMILARITY Belongs to the transient receptor (TC 1.A.4) family. {ECO 0000305}. # SIMILARITY TRPA1_HUMAN Contains 16 ANK repeats. {ECO 0000255|PROSITE- ProRule PRU00023, ECO 0000305|PubMed 25855297}. # SMART SM00248 ANK; 14 # SUBCELLULAR LOCATION TRPA1_HUMAN Cell membrane {ECO 0000269|PubMed 20547126, ECO 0000269|PubMed 25389312, ECO 0000269|PubMed 25855297}; Multi- pass membrane protein {ECO 0000305}. # SUBUNIT TRPA1_HUMAN Homotetramer (PubMed 25389312, PubMed 25855297). Interacts with TMEM100 (By similarity). {ECO 0000250|UniProtKB Q8BLA8, ECO 0000269|PubMed 25389312, ECO 0000269|PubMed 25855297}. # SUPFAM SSF48403 SSF48403; 2 # TCDB 1.A.4.6 the transient receptor potential ca(2+) channel (trp-cc) family # TISSUE SPECIFICITY Expressed at very low level. Expressed at very low level in human fibroblasts and at a moderate level in liposarcoma cells. {ECO:0000269|PubMed 10066796}. # UCSC uc003xza human # WEB RESOURCE TRPA1_HUMAN Name=Protein Spotlight; Note=The power behind pain - Issue 82 of May 2007; URL="http //web.expasy.org/spotlight/back_issues/082"; # eggNOG COG0666 LUCA # eggNOG KOG0510 Eukaryota BLAST swissprot:TRPA1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:TRPA1_HUMAN BioCyc ZFISH:ENSG00000104321-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000104321-MONOMER COXPRESdb 8989 http://coxpresdb.jp/data/gene/8989.shtml CleanEx HS_TRPA1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_TRPA1 DIP DIP-61520N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-61520N DOI 10.1016/j.neuron.2010.04.030 http://dx.doi.org/10.1016/j.neuron.2010.04.030 DOI 10.1038/nature04406 http://dx.doi.org/10.1038/nature04406 DOI 10.1038/nature14367 http://dx.doi.org/10.1038/nature14367 DOI 10.1073/pnas.1412689111 http://dx.doi.org/10.1073/pnas.1412689111 DOI 10.1074/jbc.274.11.7325 http://dx.doi.org/10.1074/jbc.274.11.7325 DrugBank DB00825 http://www.drugbank.ca/drugs/DB00825 EMBL AC022867 http://www.ebi.ac.uk/ena/data/view/AC022867 EMBL Y10601 http://www.ebi.ac.uk/ena/data/view/Y10601 Ensembl ENST00000262209 http://www.ensembl.org/id/ENST00000262209 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0032421 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032421 GO_function GO:0005262 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005262 GO_function GO:0015267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015267 GO_function GO:0015278 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015278 GO_function GO:0097604 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097604 GO_process GO:0006811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006811 GO_process GO:0007166 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007166 GO_process GO:0009409 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009409 GO_process GO:0010033 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010033 GO_process GO:0014070 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014070 GO_process GO:0019233 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019233 GO_process GO:0042493 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042493 GO_process GO:0042542 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042542 GO_process GO:0048265 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048265 GO_process GO:0050955 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050955 GO_process GO:0050966 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050966 GO_process GO:0050968 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050968 GO_process GO:0051289 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051289 GO_process GO:0070588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070588 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.25.40.20 http://www.cathdb.info/version/latest/superfamily/1.25.40.20 GeneCards TRPA1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=TRPA1 GeneID 8989 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=8989 GeneTree ENSGT00850000132305 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00850000132305 H-InvDB HIX0034373 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0034373 H-InvDB HIX0124652 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0124652 HGNC HGNC:497 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:497 HOGENOM HOG000044486 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000044486&db=HOGENOM6 HOVERGEN HBG059027 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG059027&db=HOVERGEN HPA HPA026630 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA026630 InParanoid O75762 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O75762 IntAct O75762 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O75762* InterPro IPR002110 http://www.ebi.ac.uk/interpro/entry/IPR002110 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR020683 http://www.ebi.ac.uk/interpro/entry/IPR020683 Jabion 8989 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=8989 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H01391 http://www.genome.jp/dbget-bin/www_bget?H01391 KEGG_Gene hsa:8989 http://www.genome.jp/dbget-bin/www_bget?hsa:8989 KEGG_Orthology KO:K04984 http://www.genome.jp/dbget-bin/www_bget?KO:K04984 MIM 604775 http://www.ncbi.nlm.nih.gov/omim/604775 MIM 615040 http://www.ncbi.nlm.nih.gov/omim/615040 OMA WLAYGFR http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=WLAYGFR Orphanet 391389 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=391389 OrthoDB EOG091G01BG http://cegg.unige.ch/orthodb/results?searchtext=EOG091G01BG PDB 3J9P http://www.ebi.ac.uk/pdbe-srv/view/entry/3J9P PDBsum 3J9P http://www.ebi.ac.uk/pdbsum/3J9P PRINTS PR01415 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01415 PROSITE PS50088 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50088 PROSITE PS50297 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50297 PSORT swissprot:TRPA1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:TRPA1_HUMAN PSORT-B swissprot:TRPA1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:TRPA1_HUMAN PSORT2 swissprot:TRPA1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:TRPA1_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF12796 http://pfam.xfam.org/family/PF12796 Phobius swissprot:TRPA1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:TRPA1_HUMAN PhylomeDB O75762 http://phylomedb.org/?seqid=O75762 ProteinModelPortal O75762 http://www.proteinmodelportal.org/query/uniprot/O75762 PubMed 10066796 http://www.ncbi.nlm.nih.gov/pubmed/10066796 PubMed 16421571 http://www.ncbi.nlm.nih.gov/pubmed/16421571 PubMed 20547126 http://www.ncbi.nlm.nih.gov/pubmed/20547126 PubMed 25389312 http://www.ncbi.nlm.nih.gov/pubmed/25389312 PubMed 25855297 http://www.ncbi.nlm.nih.gov/pubmed/25855297 Reactome R-HSA-3295583 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-3295583 RefSeq NP_015628 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_015628 RefSeq XP_011515927 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011515927 RefSeq XP_016869435 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016869435 SMART SM00248 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00248 SMR O75762 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=O75762 STRING 9606.ENSP00000262209 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000262209&targetmode=cogs SUPFAM SSF48403 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48403 TCDB 1.A.4.6 http://www.tcdb.org/search/result.php?tc=1.A.4.6 UCSC uc003xza http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003xza&org=rat UniGene Hs.716816 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.716816 UniProtKB TRPA1_HUMAN http://www.uniprot.org/uniprot/TRPA1_HUMAN UniProtKB-AC O75762 http://www.uniprot.org/uniprot/O75762 charge swissprot:TRPA1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:TRPA1_HUMAN eggNOG COG0666 http://eggnogapi.embl.de/nog_data/html/tree/COG0666 eggNOG KOG0510 http://eggnogapi.embl.de/nog_data/html/tree/KOG0510 epestfind swissprot:TRPA1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:TRPA1_HUMAN garnier swissprot:TRPA1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:TRPA1_HUMAN helixturnhelix swissprot:TRPA1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:TRPA1_HUMAN hmoment swissprot:TRPA1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:TRPA1_HUMAN iep swissprot:TRPA1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:TRPA1_HUMAN inforesidue swissprot:TRPA1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:TRPA1_HUMAN neXtProt NX_O75762 http://www.nextprot.org/db/entry/NX_O75762 octanol swissprot:TRPA1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:TRPA1_HUMAN pepcoil swissprot:TRPA1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:TRPA1_HUMAN pepdigest swissprot:TRPA1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:TRPA1_HUMAN pepinfo swissprot:TRPA1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:TRPA1_HUMAN pepnet swissprot:TRPA1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:TRPA1_HUMAN pepstats swissprot:TRPA1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:TRPA1_HUMAN pepwheel swissprot:TRPA1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:TRPA1_HUMAN pepwindow swissprot:TRPA1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:TRPA1_HUMAN sigcleave swissprot:TRPA1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:TRPA1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS TRPM4_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; Synonyms=TRPM4b; IsoId=Q8TD43-1; Sequence=Displayed; Name=2; Synonyms=TRPM4a; IsoId=Q8TD43-2; Sequence=VSP_021442; Name=3; Synonyms=TRPM4c; IsoId=Q8TD43-3; Sequence=VSP_021443; # AltName TRPM4_HUMAN Calcium-activated non-selective cation channel 1 # AltName TRPM4_HUMAN Long transient receptor potential channel 4 # AltName TRPM4_HUMAN Melastatin-4 # BioGrid 120154 8 # CCDS CCDS33073 -. [Q8TD43-1] # CCDS CCDS56098 -. [Q8TD43-3] # DISEASE TRPM4_HUMAN Progressive familial heart block 1B (PFHB1B) [MIM 604559] A cardiac bundle branch disorder characterized by progressive alteration of cardiac conduction through the His- Purkinje system, with a pattern of a right bundle-branch block and/or left anterior hemiblock occurring individually or together. It leads to complete atrio-ventricular block causing syncope and sudden death. {ECO 0000269|PubMed 19726882, ECO 0000269|PubMed 20562447, ECO 0000269|PubMed 21887725}. Note=The disease is caused by mutations affecting the gene represented in this entry. # ENZYME REGULATION TRPM4_HUMAN Gating is voltage-dependent and repressed by decavanadate. Calmodulin-binding confers the Ca(2+) sensitivity. ATP is able to restore Ca(2+) sensitivity after desensitization. Phosphatidylinositol 4,5-bisphosphate (PIP2)-binding strongly enhances activity, by increasing the channel's Ca(2+) sensitivity and shifting its voltage dependence of activation towards negative potentials. Activity is also enhanced by 3,5- bis(trifluoromethyl)pyrazole derivative (BTP2). {ECO 0000269|PubMed 14758478, ECO 0000269|PubMed 15331675, ECO 0000269|PubMed 16186107, ECO 0000269|PubMed 16407466, ECO 0000269|PubMed 16424899}. # Ensembl ENST00000252826 ENSP00000252826; ENSG00000130529. [Q8TD43-1] # Ensembl ENST00000427978 ENSP00000407492; ENSG00000130529. [Q8TD43-3] # ExpressionAtlas Q8TD43 baseline and differential # FUNCTION TRPM4_HUMAN Calcium-activated non selective (CAN) cation channel that mediates membrane depolarization. While it is activated by increase in intracellular Ca(2+), it is impermeable to it. Mediates transport of monovalent cations (Na(+) > K(+) > Cs(+) > Li(+)), leading to depolarize the membrane. It thereby plays a central role in cadiomyocytes, neurons from entorhinal cortex, dorsal root and vomeronasal neurons, endocrine pancreas cells, kidney epithelial cells, cochlea hair cells etc. Participates in T-cell activation by modulating Ca(2+) oscillations after T lymphocyte activation, which is required for NFAT-dependent IL2 production. Involved in myogenic constriction of cerebral arteries. Controls insulin secretion in pancreatic beta-cells. May also be involved in pacemaking or could cause irregular electrical activity under conditions of Ca(2+) overload. Affects T-helper 1 (Th1) and T-helper 2 (Th2) cell motility and cytokine production through differential regulation of calcium signaling and NFATC1 localization. Enhances cell proliferation through up-regulation of the beta-catenin signaling pathway. {ECO 0000269|PubMed 12015988, ECO 0000269|PubMed 12799367, ECO 0000269|PubMed 15121803, ECO 0000269|PubMed 15472118, ECO 0000269|PubMed 15550671, ECO 0000269|PubMed 16806463, ECO 0000269|PubMed 20625999, ECO 0000269|PubMed 20656926}. # GO_component GO:0005654 nucleoplasm; IDA:HPA. # GO_component GO:0005783 endoplasmic reticulum; IDA:UniProtKB. # GO_component GO:0005794 Golgi apparatus; IDA:UniProtKB. # GO_component GO:0005829 cytosol; ISS:BHF-UCL. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0043025 neuronal cell body; ISS:BHF-UCL. # GO_function GO:0005227 calcium activated cation channel activity; ISS:UniProtKB. # GO_function GO:0005262 calcium channel activity; IEA:Ensembl. # GO_function GO:0005272 sodium channel activity; TAS:Reactome. # GO_function GO:0005524 ATP binding; IEA:UniProtKB-KW. # GO_process GO:0002250 adaptive immune response; IEA:UniProtKB-KW. # GO_process GO:0002407 dendritic cell chemotaxis; ISS:UniProtKB. # GO_process GO:0002724 regulation of T cell cytokine production; IDA:UniProtKB. # GO_process GO:0007204 positive regulation of cytosolic calcium ion concentration; ISS:BHF-UCL. # GO_process GO:0008284 positive regulation of cell proliferation; IDA:UniProtKB. # GO_process GO:0010460 positive regulation of heart rate; ISS:BHF-UCL. # GO_process GO:0016925 protein sumoylation; IDA:UniProtKB. # GO_process GO:0030502 negative regulation of bone mineralization; ISS:BHF-UCL. # GO_process GO:0035774 positive regulation of insulin secretion involved in cellular response to glucose stimulus; ISS:BHF-UCL. # GO_process GO:0042310 vasoconstriction; IEA:InterPro. # GO_process GO:0045600 positive regulation of fat cell differentiation; ISS:BHF-UCL. # GO_process GO:0045668 negative regulation of osteoblast differentiation; ISS:BHF-UCL. # GO_process GO:0045907 positive regulation of vasoconstriction; ISS:BHF-UCL. # GO_process GO:0061337 cardiac conduction; IEA:InterPro. # GO_process GO:0070588 calcium ion transmembrane transport; TAS:Reactome. # GO_process GO:0090263 positive regulation of canonical Wnt signaling pathway; IDA:UniProtKB. # GO_process GO:1903949 positive regulation of atrial cardiac muscle cell action potential; ISS:BHF-UCL. # GO_process GO:1904179 positive regulation of adipose tissue development; ISS:BHF-UCL. # GO_process GO:1904199 positive regulation of regulation of vascular smooth muscle cell membrane depolarization; ISS:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005654 nucleoplasm # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_component GO:0005794 Golgi apparatus # GOslim_component GO:0005829 cytosol # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0002376 immune system process # GOslim_process GO:0003013 circulatory system process # GOslim_process GO:0006464 cellular protein modification process # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0048870 cell motility # GOslim_process GO:0055085 transmembrane transport # Genevisible Q8TD43 HS # HGNC HGNC:17993 TRPM4 # InterPro IPR005821 Ion_trans_dom # InterPro IPR029581 TRPM4 # KEGG_Brite ko04040 Ion channels # KEGG_Disease H01263 [Cardiovascular disease] Lenegre-Lev disease # MIM 604559 phenotype # MIM 606936 gene # Organism TRPM4_HUMAN Homo sapiens (Human) # Orphanet 130 Brugada syndrome # Orphanet 871 Familial progressive cardiac conduction defect # PANTHER PTHR13800:SF6 PTHR13800:SF6 # PTM TRPM4_HUMAN Phosphorylation by PKC leads to increase the sensitivity to Ca(2+). {ECO 0000269|PubMed 15590641}. # PTM TRPM4_HUMAN Sumoylated. Desumoylated by SENP1. {ECO 0000269|PubMed 19726882}. # Pfam PF00520 Ion_trans # Proteomes UP000005640 Chromosome 19 # Reactome R-HSA-3295583 TRP channels # RecName TRPM4_HUMAN Transient receptor potential cation channel subfamily M member 4 # RefSeq NP_001182156 NM_001195227.1. [Q8TD43-3] # RefSeq NP_001308212 NM_001321283.1. [Q8TD43-2] # RefSeq NP_060106 NM_017636.3. [Q8TD43-1] # SEQUENCE CAUTION Sequence=BAA90907.1; Type=Erroneous termination; Positions=1191; Note=Translated as Glu.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the transient receptor (TC 1.A.4) family. LTrpC subfamily. TRPM4 sub-subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION TRPM4_HUMAN Isoform 1 Cell membrane; Multi-pass membrane protein. Endoplasmic reticulum. Golgi apparatus. # SUBCELLULAR LOCATION TRPM4_HUMAN Isoform 2 Endoplasmic reticulum. Golgi apparatus. # SUBUNIT Homomultimer. {ECO:0000269|PubMed 12015988}. # TCDB 1.A.4.5 the transient receptor potential ca(2+) channel (trp-cc) family # TISSUE SPECIFICITY TRPM4_HUMAN Widely expressed with a high expression in intestine and prostate. In brain, it is both expressed in whole cerebral arteries and isolated vascular smooth muscle cells. Prominently expressed in Purkinje fibers. Expressed at higher levels in T-helper 2 (Th2) cells as compared to T-helper 1 (Th1) cells. {ECO 0000269|PubMed 11535825, ECO 0000269|PubMed 12015988, ECO 0000269|PubMed 12799367, ECO 0000269|PubMed 15472118, ECO 0000269|PubMed 16777713, ECO 0000269|PubMed 19726882, ECO 0000269|PubMed 20656926}. # UCSC uc002pmw human. [Q8TD43-1] # eggNOG ENOG410XR5B LUCA # eggNOG KOG3614 Eukaryota BLAST swissprot:TRPM4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:TRPM4_HUMAN BioCyc ZFISH:ENSG00000130529-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000130529-MONOMER COXPRESdb 54795 http://coxpresdb.jp/data/gene/54795.shtml CleanEx HS_TRPM4 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_TRPM4 DOI 10.1002/humu.21599 http://dx.doi.org/10.1002/humu.21599 DOI 10.1002/jcp.22310 http://dx.doi.org/10.1002/jcp.22310 DOI 10.1007/s00424-003-1221-x http://dx.doi.org/10.1007/s00424-003-1221-x DOI 10.1016/S0092-8674(02)00719-5 http://dx.doi.org/10.1016/S0092-8674(02)00719-5 DOI 10.1016/S0960-9822(03)00431-7 http://dx.doi.org/10.1016/S0960-9822(03)00431-7 DOI 10.1016/j.bbrc.2009.11.142 http://dx.doi.org/10.1016/j.bbrc.2009.11.142 DOI 10.1016/j.ceca.2006.04.032 http://dx.doi.org/10.1016/j.ceca.2006.04.032 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1038/sj.emboj.7600963 http://dx.doi.org/10.1038/sj.emboj.7600963 DOI 10.1073/pnas.191360198 http://dx.doi.org/10.1073/pnas.191360198 DOI 10.1074/jbc.M305127200 http://dx.doi.org/10.1074/jbc.M305127200 DOI 10.1074/jbc.M411089200 http://dx.doi.org/10.1074/jbc.M411089200 DOI 10.1074/jbc.M501686200 http://dx.doi.org/10.1074/jbc.M501686200 DOI 10.1074/jbc.M506965200 http://dx.doi.org/10.1074/jbc.M506965200 DOI 10.1080/10799890600637506 http://dx.doi.org/10.1080/10799890600637506 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1113/jphysiol.2004.063974 http://dx.doi.org/10.1113/jphysiol.2004.063974 DOI 10.1113/jphysiol.2004.070839 http://dx.doi.org/10.1113/jphysiol.2004.070839 DOI 10.1124/mol.105.021154 http://dx.doi.org/10.1124/mol.105.021154 DOI 10.1126/science.1098845 http://dx.doi.org/10.1126/science.1098845 DOI 10.1161/01.RES.0000147311.54833.03 http://dx.doi.org/10.1161/01.RES.0000147311.54833.03 DOI 10.1161/CIRCGENETICS.109.930867 http://dx.doi.org/10.1161/CIRCGENETICS.109.930867 DOI 10.1172/JCI38292 http://dx.doi.org/10.1172/JCI38292 DOI 10.4049/jimmunol.1000880 http://dx.doi.org/10.4049/jimmunol.1000880 EMBL AF497623 http://www.ebi.ac.uk/ena/data/view/AF497623 EMBL AJ575813 http://www.ebi.ac.uk/ena/data/view/AJ575813 EMBL AK000048 http://www.ebi.ac.uk/ena/data/view/AK000048 EMBL AK292862 http://www.ebi.ac.uk/ena/data/view/AK292862 EMBL AY046396 http://www.ebi.ac.uk/ena/data/view/AY046396 EMBL AY297044 http://www.ebi.ac.uk/ena/data/view/AY297044 EMBL AY297045 http://www.ebi.ac.uk/ena/data/view/AY297045 EMBL AY297046 http://www.ebi.ac.uk/ena/data/view/AY297046 EMBL BC132727 http://www.ebi.ac.uk/ena/data/view/BC132727 Ensembl ENST00000252826 http://www.ensembl.org/id/ENST00000252826 Ensembl ENST00000427978 http://www.ensembl.org/id/ENST00000427978 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GO_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GO_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0043025 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043025 GO_function GO:0005227 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005227 GO_function GO:0005262 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005262 GO_function GO:0005272 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005272 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_process GO:0002250 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002250 GO_process GO:0002407 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002407 GO_process GO:0002724 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002724 GO_process GO:0007204 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007204 GO_process GO:0008284 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008284 GO_process GO:0010460 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010460 GO_process GO:0016925 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016925 GO_process GO:0030502 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030502 GO_process GO:0035774 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035774 GO_process GO:0042310 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042310 GO_process GO:0045600 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045600 GO_process GO:0045668 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045668 GO_process GO:0045907 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045907 GO_process GO:0061337 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061337 GO_process GO:0070588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070588 GO_process GO:0090263 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090263 GO_process GO:1903949 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903949 GO_process GO:1904179 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1904179 GO_process GO:1904199 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1904199 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0002376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002376 GOslim_process GO:0003013 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003013 GOslim_process GO:0006464 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006464 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0048870 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048870 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards TRPM4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=TRPM4 GeneID 54795 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=54795 GeneTree ENSGT00760000119127 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119127 HGNC HGNC:17993 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:17993 HOGENOM HOG000236350 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000236350&db=HOGENOM6 HOVERGEN HBG108337 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG108337&db=HOVERGEN HPA HPA041169 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA041169 InParanoid Q8TD43 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8TD43 IntAct Q8TD43 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q8TD43* InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR029581 http://www.ebi.ac.uk/interpro/entry/IPR029581 Jabion 54795 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=54795 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H01263 http://www.genome.jp/dbget-bin/www_bget?H01263 KEGG_Gene hsa:54795 http://www.genome.jp/dbget-bin/www_bget?hsa:54795 KEGG_Orthology KO:K04979 http://www.genome.jp/dbget-bin/www_bget?KO:K04979 MIM 604559 http://www.ncbi.nlm.nih.gov/omim/604559 MIM 606936 http://www.ncbi.nlm.nih.gov/omim/606936 OMA FLRLSCD http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=FLRLSCD Orphanet 130 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=130 Orphanet 871 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=871 OrthoDB EOG091G017C http://cegg.unige.ch/orthodb/results?searchtext=EOG091G017C PANTHER PTHR13800:SF6 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR13800:SF6 PSORT swissprot:TRPM4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:TRPM4_HUMAN PSORT-B swissprot:TRPM4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:TRPM4_HUMAN PSORT2 swissprot:TRPM4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:TRPM4_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 PharmGKB PA38272 http://www.pharmgkb.org/do/serve?objId=PA38272&objCls=Gene Phobius swissprot:TRPM4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:TRPM4_HUMAN PhylomeDB Q8TD43 http://phylomedb.org/?seqid=Q8TD43 ProteinModelPortal Q8TD43 http://www.proteinmodelportal.org/query/uniprot/Q8TD43 PubMed 11535825 http://www.ncbi.nlm.nih.gov/pubmed/11535825 PubMed 12015988 http://www.ncbi.nlm.nih.gov/pubmed/12015988 PubMed 12799367 http://www.ncbi.nlm.nih.gov/pubmed/12799367 PubMed 12842017 http://www.ncbi.nlm.nih.gov/pubmed/12842017 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 14758478 http://www.ncbi.nlm.nih.gov/pubmed/14758478 PubMed 15121803 http://www.ncbi.nlm.nih.gov/pubmed/15121803 PubMed 15331675 http://www.ncbi.nlm.nih.gov/pubmed/15331675 PubMed 15472118 http://www.ncbi.nlm.nih.gov/pubmed/15472118 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15550671 http://www.ncbi.nlm.nih.gov/pubmed/15550671 PubMed 15590641 http://www.ncbi.nlm.nih.gov/pubmed/15590641 PubMed 15845551 http://www.ncbi.nlm.nih.gov/pubmed/15845551 PubMed 16186107 http://www.ncbi.nlm.nih.gov/pubmed/16186107 PubMed 16407466 http://www.ncbi.nlm.nih.gov/pubmed/16407466 PubMed 16424899 http://www.ncbi.nlm.nih.gov/pubmed/16424899 PubMed 16777713 http://www.ncbi.nlm.nih.gov/pubmed/16777713 PubMed 16806463 http://www.ncbi.nlm.nih.gov/pubmed/16806463 PubMed 19726882 http://www.ncbi.nlm.nih.gov/pubmed/19726882 PubMed 19945433 http://www.ncbi.nlm.nih.gov/pubmed/19945433 PubMed 20562447 http://www.ncbi.nlm.nih.gov/pubmed/20562447 PubMed 20625999 http://www.ncbi.nlm.nih.gov/pubmed/20625999 PubMed 20656926 http://www.ncbi.nlm.nih.gov/pubmed/20656926 PubMed 21887725 http://www.ncbi.nlm.nih.gov/pubmed/21887725 Reactome R-HSA-3295583 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-3295583 RefSeq NP_001182156 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001182156 RefSeq NP_001308212 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001308212 RefSeq NP_060106 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_060106 STRING 9606.ENSP00000252826 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000252826&targetmode=cogs TCDB 1.A.4.5 http://www.tcdb.org/search/result.php?tc=1.A.4.5 UCSC uc002pmw http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002pmw&org=rat UniGene Hs.467101 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.467101 UniProtKB TRPM4_HUMAN http://www.uniprot.org/uniprot/TRPM4_HUMAN UniProtKB-AC Q8TD43 http://www.uniprot.org/uniprot/Q8TD43 charge swissprot:TRPM4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:TRPM4_HUMAN eggNOG ENOG410XR5B http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XR5B eggNOG KOG3614 http://eggnogapi.embl.de/nog_data/html/tree/KOG3614 epestfind swissprot:TRPM4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:TRPM4_HUMAN garnier swissprot:TRPM4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:TRPM4_HUMAN helixturnhelix swissprot:TRPM4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:TRPM4_HUMAN hmoment swissprot:TRPM4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:TRPM4_HUMAN iep swissprot:TRPM4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:TRPM4_HUMAN inforesidue swissprot:TRPM4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:TRPM4_HUMAN neXtProt NX_Q8TD43 http://www.nextprot.org/db/entry/NX_Q8TD43 octanol swissprot:TRPM4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:TRPM4_HUMAN pepcoil swissprot:TRPM4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:TRPM4_HUMAN pepdigest swissprot:TRPM4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:TRPM4_HUMAN pepinfo swissprot:TRPM4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:TRPM4_HUMAN pepnet swissprot:TRPM4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:TRPM4_HUMAN pepstats swissprot:TRPM4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:TRPM4_HUMAN pepwheel swissprot:TRPM4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:TRPM4_HUMAN pepwindow swissprot:TRPM4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:TRPM4_HUMAN sigcleave swissprot:TRPM4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:TRPM4_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS PDE2A_HUMAN Event=Alternative splicing; Named isoforms=6; Comment=Additional isoforms seem to exist. Experimental confirmation may be lacking for some isoforms.; Name=PDE2A3; IsoId=O00408-1; Sequence=Displayed; Name=PDE2A1; IsoId=O00408-2; Sequence=VSP_055315; Note=Soluble form.; Name=PDE2A2; IsoId=O00408-3; Sequence=VSP_055316; Note=Contains a transit peptide at positions 1-17.; Name=PDE2A4; IsoId=O00408-4; Sequence=VSP_055317; Name=5; IsoId=O00408-5; Sequence=VSP_055316, VSP_055318; Note=No experimental confirmation available.; Name=6; IsoId=O00408-6; Sequence=VSP_055315, VSP_055319, VSP_055320; Note=No experimental confirmation available.; # AltName PDE2A_HUMAN Cyclic GMP-stimulated phosphodiesterase # BRENDA 3.1.4.17 2681 # BioGrid 111164 3 # CATALYTIC ACTIVITY PDE2A_HUMAN Nucleoside 3',5'-cyclic phosphate + H(2)O = nucleoside 5'-phosphate. # CCDS CCDS44670 -. [O00408-3] # CCDS CCDS53678 -. [O00408-4] # CCDS CCDS73345 -. [O00408-2] # CCDS CCDS8216 -. [O00408-1] # COFACTOR PDE2A_HUMAN Name=a divalent metal cation; Xref=ChEBI CHEBI 60240; Evidence={ECO 0000250}; Note=Binds 2 divalent metal cations per subunit. Site 1 may preferentially bind zinc ions, while site 2 has a preference for magnesium and/or manganese ions. {ECO 0000250}; # ChiTaRS PDE2A human # DOMAIN PDE2A_HUMAN GAF 1 functions as a dimerization domain, whereas GAF 2 binds cGMP, which causes activation of the catalytic activity of the enzyme. {ECO 0000250}. # DrugBank DB00201 Caffeine # DrugBank DB08811 Tofisopam # Ensembl ENST00000334456 ENSP00000334910; ENSG00000186642. [O00408-1] # Ensembl ENST00000376450 ENSP00000365633; ENSG00000186642. [O00408-5] # Ensembl ENST00000444035 ENSP00000411657; ENSG00000186642. [O00408-2] # Ensembl ENST00000540345 ENSP00000446399; ENSG00000186642. [O00408-4] # Ensembl ENST00000544570 ENSP00000442256; ENSG00000186642. [O00408-3] # ExpressionAtlas O00408 baseline and differential # FUNCTION PDE2A_HUMAN Cyclic nucleotide phosphodiesterase with a dual- specificity for the second messengers cAMP and cGMP, which are key regulators of many important physiological processes. # FUNCTION PDE2A_HUMAN Isoform PDE2A2 Regulates Mitochondrial cAMP Levels and Respiration. # GO_component GO:0005634 nucleus; IDA:UniProtKB. # GO_component GO:0005737 cytoplasm; IDA:UniProtKB. # GO_component GO:0005759 mitochondrial matrix; ISS:UniProtKB. # GO_component GO:0005783 endoplasmic reticulum; ISS:UniProtKB. # GO_component GO:0005794 Golgi apparatus; ISS:UniProtKB. # GO_component GO:0005829 cytosol; IDA:UniProtKB. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0042734 presynaptic membrane; ISS:UniProtKB. # GO_component GO:0048471 perinuclear region of cytoplasm; IDA:UniProtKB. # GO_function GO:0004112 cyclic-nucleotide phosphodiesterase activity; IDA:UniProtKB. # GO_function GO:0004115 3',5'-cyclic-AMP phosphodiesterase activity; TAS:Reactome. # GO_function GO:0004118 cGMP-stimulated cyclic-nucleotide phosphodiesterase activity; IDA:UniProtKB. # GO_function GO:0005262 calcium channel activity; TAS:UniProtKB. # GO_function GO:0008144 drug binding; IDA:UniProtKB. # GO_function GO:0030552 cAMP binding; IMP:UniProtKB. # GO_function GO:0030553 cGMP binding; IDA:UniProtKB. # GO_function GO:0030911 TPR domain binding; IPI:UniProtKB. # GO_function GO:0042803 protein homodimerization activity; IPI:UniProtKB. # GO_function GO:0046872 metal ion binding; IEA:UniProtKB-KW. # GO_function GO:0047555 3',5'-cyclic-GMP phosphodiesterase activity; TAS:Reactome. # GO_process GO:0000122 negative regulation of transcription from RNA polymerase II promoter; IDA:UniProtKB. # GO_process GO:0006198 cAMP catabolic process; IDA:UniProtKB. # GO_process GO:0006626 protein targeting to mitochondrion; ISS:UniProtKB. # GO_process GO:0008152 metabolic process; IDA:UniProtKB. # GO_process GO:0019933 cAMP-mediated signaling; IMP:UniProtKB. # GO_process GO:0019934 cGMP-mediated signaling; IMP:UniProtKB. # GO_process GO:0030224 monocyte differentiation; IEP:UniProtKB. # GO_process GO:0030818 negative regulation of cAMP biosynthetic process; ISS:UniProtKB. # GO_process GO:0033159 negative regulation of protein import into nucleus, translocation; IDA:UniProtKB. # GO_process GO:0035690 cellular response to drug; IMP:UniProtKB. # GO_process GO:0036006 cellular response to macrophage colony-stimulating factor stimulus; IDA:UniProtKB. # GO_process GO:0043116 negative regulation of vascular permeability; IMP:UniProtKB. # GO_process GO:0043117 positive regulation of vascular permeability; IMP:UniProtKB. # GO_process GO:0046069 cGMP catabolic process; IDA:UniProtKB. # GO_process GO:0050729 positive regulation of inflammatory response; ISS:UniProtKB. # GO_process GO:0061028 establishment of endothelial barrier; ISS:UniProtKB. # GO_process GO:0071260 cellular response to mechanical stimulus; ISS:UniProtKB. # GO_process GO:0071321 cellular response to cGMP; IDA:UniProtKB. # GO_process GO:0071560 cellular response to transforming growth factor beta stimulus; IEP:UniProtKB. # GO_process GO:0097011 cellular response to granulocyte macrophage colony-stimulating factor stimulus; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_component GO:0005794 Golgi apparatus # GOslim_component GO:0005829 cytosol # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0003013 circulatory system process # GOslim_process GO:0006605 protein targeting # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0030154 cell differentiation # GOslim_process GO:0034655 nucleobase-containing compound catabolic process # GOslim_process GO:0044281 small molecule metabolic process # GOslim_process GO:0048856 anatomical structure development # Gene3D 1.10.1300.10 -; 1. # Gene3D 3.30.450.40 -; 2. # Genevisible O00408 HS # HGNC HGNC:8777 PDE2A # INTERACTION PDE2A_HUMAN O00170 AIP; NbExp=6; IntAct=EBI-1785967, EBI-704197; # IntAct O00408 3 # InterPro IPR002073 PDEase_catalytic_dom # InterPro IPR003018 GAF # InterPro IPR003607 HD/PDEase_dom # InterPro IPR023088 PDEase # InterPro IPR023174 PDEase_CS # InterPro IPR029016 GAF_dom-like # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko01000 Enzymes # KEGG_Pathway ko00230 Purine metabolism # KEGG_Pathway ko05032 Morphine addiction # MIM 602658 gene # MISCELLANEOUS cGMP binds at an allosteric activator site. {ECO 0000250}. # Organism PDE2A_HUMAN Homo sapiens (Human) # PDB 1Z1L X-ray; 1.70 A; A=578-919 # PDB 3IBJ X-ray; 3.02 A; A/B=215-900 # PDB 3ITM X-ray; 2.49 A; A/B/C/D=579-919 # PDB 3ITU X-ray; 1.58 A; A/B/C/D=579-919 # PDB 4C1I X-ray; 2.40 A; A/B/C/D=578-921 # PDB 4D08 X-ray; 1.90 A; A/B/C/D=578-921 # PDB 4D09 X-ray; 2.50 A; A/B/C/D=578-921 # PDB 4HTX X-ray; 1.90 A; A/B/C/D=578-919 # PDB 4HTZ X-ray; 2.00 A; A/B/C/D=578-919 # PDB 4JIB X-ray; 1.72 A; A/B/C/D=579-919 # PRINTS PR00387 PDIESTERASE1 # PROSITE PS00126 PDEASE_I # Pfam PF00233 PDEase_I # Pfam PF01590 GAF # Pfam PF13185 GAF_2 # Proteomes UP000005640 Chromosome 11 # Reactome R-HSA-418457 cGMP effects # Reactome R-HSA-418555 G alpha (s) signalling events # RecName PDE2A_HUMAN cGMP-dependent 3',5'-cyclic phosphodiesterase # RefSeq NP_001137311 NM_001143839.3. [O00408-3] # RefSeq NP_001139681 NM_001146209.2. [O00408-4] # RefSeq NP_001230713 NM_001243784.1. [O00408-2] # RefSeq NP_002590 NM_002599.4. [O00408-1] # SEQUENCE CAUTION Sequence=AAS75515.1; Type=Frameshift; Positions=48; Evidence={ECO 0000305}; # SIMILARITY Belongs to the cyclic nucleotide phosphodiesterase family. PDE2 subfamily. {ECO 0000305}. # SIMILARITY Contains 2 GAF domains. {ECO 0000305}. # SMART SM00065 GAF; 2 # SMART SM00471 HDc # SUBCELLULAR LOCATION PDE2A_HUMAN Isoform 5 Mitochondrion {ECO 0000305}. # SUBCELLULAR LOCATION PDE2A_HUMAN Isoform PDE2A1 Cytoplasm {ECO 0000269|PubMed 19632989}. # SUBCELLULAR LOCATION PDE2A_HUMAN Isoform PDE2A2 Mitochondrion matrix {ECO 0000269|PubMed 21724846}. # SUBCELLULAR LOCATION PDE2A_HUMAN Isoform PDE2A3 Cell membrane {ECO 0000269|PubMed 19632989}; Lipid-anchor {ECO 0000269|PubMed 19632989}. # SUBUNIT PDE2A_HUMAN Homodimer. {ECO 0000269|PubMed 15938621, ECO 0000269|PubMed 19828435, ECO 0000269|PubMed 23899287}. # SUPFAM SSF55781 SSF55781; 3 # TISSUE SPECIFICITY PDE2A_HUMAN Expressed in brain and to a lesser extent in heart, placenta, lung, skeletal muscle, kidney and pancreas. # UCSC uc001osn human. [O00408-1] # eggNOG ENOG410XRI7 LUCA # eggNOG KOG3689 Eukaryota BLAST swissprot:PDE2A_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:PDE2A_HUMAN BioCyc ZFISH:HS10579-MONOMER http://biocyc.org/getid?id=ZFISH:HS10579-MONOMER COXPRESdb 5138 http://coxpresdb.jp/data/gene/5138.shtml CleanEx HS_PDE2A http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_PDE2A DIP DIP-40269N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-40269N DOI 10.1002/pmic.200900783 http://dx.doi.org/10.1002/pmic.200900783 DOI 10.1016/S0378-1119(97)00046-2 http://dx.doi.org/10.1016/S0378-1119(97)00046-2 DOI 10.1021/bi047313h http://dx.doi.org/10.1021/bi047313h DOI 10.1021/ja404449g http://dx.doi.org/10.1021/ja404449g DOI 10.1038/nature04632 http://dx.doi.org/10.1038/nature04632 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.0907635106 http://dx.doi.org/10.1073/pnas.0907635106 DOI 10.1074/jbc.M109.017194 http://dx.doi.org/10.1074/jbc.M109.017194 DOI 10.1074/jbc.M111.266379 http://dx.doi.org/10.1074/jbc.M111.266379 DOI 10.1074/mcp.M800588-MCP200 http://dx.doi.org/10.1074/mcp.M800588-MCP200 DrugBank DB00201 http://www.drugbank.ca/drugs/DB00201 DrugBank DB08811 http://www.drugbank.ca/drugs/DB08811 EC_number EC:3.1.4.17 http://www.genome.jp/dbget-bin/www_bget?EC:3.1.4.17 EMBL AK092278 http://www.ebi.ac.uk/ena/data/view/AK092278 EMBL AK131525 http://www.ebi.ac.uk/ena/data/view/AK131525 EMBL AK312434 http://www.ebi.ac.uk/ena/data/view/AK312434 EMBL AP003065 http://www.ebi.ac.uk/ena/data/view/AP003065 EMBL AP005019 http://www.ebi.ac.uk/ena/data/view/AP005019 EMBL AY495087 http://www.ebi.ac.uk/ena/data/view/AY495087 EMBL AY495088 http://www.ebi.ac.uk/ena/data/view/AY495088 EMBL AY495089 http://www.ebi.ac.uk/ena/data/view/AY495089 EMBL U67733 http://www.ebi.ac.uk/ena/data/view/U67733 ENZYME 3.1.4.17 http://enzyme.expasy.org/EC/3.1.4.17 Ensembl ENST00000334456 http://www.ensembl.org/id/ENST00000334456 Ensembl ENST00000376450 http://www.ensembl.org/id/ENST00000376450 Ensembl ENST00000444035 http://www.ensembl.org/id/ENST00000444035 Ensembl ENST00000540345 http://www.ensembl.org/id/ENST00000540345 Ensembl ENST00000544570 http://www.ensembl.org/id/ENST00000544570 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005759 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005759 GO_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GO_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0042734 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042734 GO_component GO:0048471 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048471 GO_function GO:0004112 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004112 GO_function GO:0004115 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004115 GO_function GO:0004118 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004118 GO_function GO:0005262 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005262 GO_function GO:0008144 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008144 GO_function GO:0030552 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030552 GO_function GO:0030553 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030553 GO_function GO:0030911 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030911 GO_function GO:0042803 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042803 GO_function GO:0046872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046872 GO_function GO:0047555 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0047555 GO_process GO:0000122 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000122 GO_process GO:0006198 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006198 GO_process GO:0006626 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006626 GO_process GO:0008152 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008152 GO_process GO:0019933 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019933 GO_process GO:0019934 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019934 GO_process GO:0030224 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030224 GO_process GO:0030818 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030818 GO_process GO:0033159 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033159 GO_process GO:0035690 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035690 GO_process GO:0036006 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0036006 GO_process GO:0043116 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043116 GO_process GO:0043117 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043117 GO_process GO:0046069 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046069 GO_process GO:0050729 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050729 GO_process GO:0061028 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061028 GO_process GO:0071260 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071260 GO_process GO:0071321 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071321 GO_process GO:0071560 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071560 GO_process GO:0097011 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097011 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0003013 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003013 GOslim_process GO:0006605 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006605 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0030154 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030154 GOslim_process GO:0034655 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034655 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 Gene3D 1.10.1300.10 http://www.cathdb.info/version/latest/superfamily/1.10.1300.10 Gene3D 3.30.450.40 http://www.cathdb.info/version/latest/superfamily/3.30.450.40 GeneCards PDE2A http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=PDE2A GeneID 5138 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=5138 GeneTree ENSGT00760000119066 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119066 HGNC HGNC:8777 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:8777 HOGENOM HOG000007068 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000007068&db=HOGENOM6 HOVERGEN HBG053540 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG053540&db=HOVERGEN HPA CAB009752 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB009752 HPA HPA031192 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA031192 IntAct O00408 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O00408* IntEnz 3.1.4.17 http://www.ebi.ac.uk/intenz/query?cmd=Search&q=3.1.4.17 InterPro IPR002073 http://www.ebi.ac.uk/interpro/entry/IPR002073 InterPro IPR003018 http://www.ebi.ac.uk/interpro/entry/IPR003018 InterPro IPR003607 http://www.ebi.ac.uk/interpro/entry/IPR003607 InterPro IPR023088 http://www.ebi.ac.uk/interpro/entry/IPR023088 InterPro IPR023174 http://www.ebi.ac.uk/interpro/entry/IPR023174 InterPro IPR029016 http://www.ebi.ac.uk/interpro/entry/IPR029016 Jabion 5138 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=5138 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Gene hsa:5138 http://www.genome.jp/dbget-bin/www_bget?hsa:5138 KEGG_Orthology KO:K01120 http://www.genome.jp/dbget-bin/www_bget?KO:K01120 KEGG_Pathway ko00230 http://www.genome.jp/kegg-bin/show_pathway?ko00230 KEGG_Pathway ko05032 http://www.genome.jp/kegg-bin/show_pathway?ko05032 KEGG_Reaction rn:R00191 http://www.genome.jp/dbget-bin/www_bget?rn:R00191 KEGG_Reaction rn:R01234 http://www.genome.jp/dbget-bin/www_bget?rn:R01234 MIM 602658 http://www.ncbi.nlm.nih.gov/omim/602658 OMA NEEWSLQ http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=NEEWSLQ OrthoDB EOG091G0L2F http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0L2F PDB 1Z1L http://www.ebi.ac.uk/pdbe-srv/view/entry/1Z1L PDB 3IBJ http://www.ebi.ac.uk/pdbe-srv/view/entry/3IBJ PDB 3ITM http://www.ebi.ac.uk/pdbe-srv/view/entry/3ITM PDB 3ITU http://www.ebi.ac.uk/pdbe-srv/view/entry/3ITU PDB 4C1I http://www.ebi.ac.uk/pdbe-srv/view/entry/4C1I PDB 4D08 http://www.ebi.ac.uk/pdbe-srv/view/entry/4D08 PDB 4D09 http://www.ebi.ac.uk/pdbe-srv/view/entry/4D09 PDB 4HTX http://www.ebi.ac.uk/pdbe-srv/view/entry/4HTX PDB 4HTZ http://www.ebi.ac.uk/pdbe-srv/view/entry/4HTZ PDB 4JIB http://www.ebi.ac.uk/pdbe-srv/view/entry/4JIB PDBsum 1Z1L http://www.ebi.ac.uk/pdbsum/1Z1L PDBsum 3IBJ http://www.ebi.ac.uk/pdbsum/3IBJ PDBsum 3ITM http://www.ebi.ac.uk/pdbsum/3ITM PDBsum 3ITU http://www.ebi.ac.uk/pdbsum/3ITU PDBsum 4C1I http://www.ebi.ac.uk/pdbsum/4C1I PDBsum 4D08 http://www.ebi.ac.uk/pdbsum/4D08 PDBsum 4D09 http://www.ebi.ac.uk/pdbsum/4D09 PDBsum 4HTX http://www.ebi.ac.uk/pdbsum/4HTX PDBsum 4HTZ http://www.ebi.ac.uk/pdbsum/4HTZ PDBsum 4JIB http://www.ebi.ac.uk/pdbsum/4JIB PRINTS PR00387 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00387 PROSITE PS00126 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00126 PSORT swissprot:PDE2A_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:PDE2A_HUMAN PSORT-B swissprot:PDE2A_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:PDE2A_HUMAN PSORT2 swissprot:PDE2A_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:PDE2A_HUMAN Pfam PF00233 http://pfam.xfam.org/family/PF00233 Pfam PF01590 http://pfam.xfam.org/family/PF01590 Pfam PF13185 http://pfam.xfam.org/family/PF13185 PharmGKB PA33125 http://www.pharmgkb.org/do/serve?objId=PA33125&objCls=Gene Phobius swissprot:PDE2A_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:PDE2A_HUMAN PhylomeDB O00408 http://phylomedb.org/?seqid=O00408 ProteinModelPortal O00408 http://www.proteinmodelportal.org/query/uniprot/O00408 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15938621 http://www.ncbi.nlm.nih.gov/pubmed/15938621 PubMed 16554811 http://www.ncbi.nlm.nih.gov/pubmed/16554811 PubMed 19369195 http://www.ncbi.nlm.nih.gov/pubmed/19369195 PubMed 19632989 http://www.ncbi.nlm.nih.gov/pubmed/19632989 PubMed 19828435 http://www.ncbi.nlm.nih.gov/pubmed/19828435 PubMed 20213681 http://www.ncbi.nlm.nih.gov/pubmed/20213681 PubMed 21724846 http://www.ncbi.nlm.nih.gov/pubmed/21724846 PubMed 23899287 http://www.ncbi.nlm.nih.gov/pubmed/23899287 PubMed 9210593 http://www.ncbi.nlm.nih.gov/pubmed/9210593 Reactome R-HSA-418457 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-418457 Reactome R-HSA-418555 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-418555 RefSeq NP_001137311 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001137311 RefSeq NP_001139681 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001139681 RefSeq NP_001230713 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001230713 RefSeq NP_002590 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_002590 SMART SM00065 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00065 SMART SM00471 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00471 SMR O00408 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=O00408 STRING 9606.ENSP00000334910 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000334910&targetmode=cogs SUPFAM SSF55781 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF55781 UCSC uc001osn http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001osn&org=rat UniGene Hs.503163 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.503163 UniProtKB PDE2A_HUMAN http://www.uniprot.org/uniprot/PDE2A_HUMAN UniProtKB-AC O00408 http://www.uniprot.org/uniprot/O00408 charge swissprot:PDE2A_HUMAN http://rest.g-language.org/emboss/charge/swissprot:PDE2A_HUMAN eggNOG ENOG410XRI7 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XRI7 eggNOG KOG3689 http://eggnogapi.embl.de/nog_data/html/tree/KOG3689 epestfind swissprot:PDE2A_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:PDE2A_HUMAN garnier swissprot:PDE2A_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:PDE2A_HUMAN helixturnhelix swissprot:PDE2A_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:PDE2A_HUMAN hmoment swissprot:PDE2A_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:PDE2A_HUMAN iep swissprot:PDE2A_HUMAN http://rest.g-language.org/emboss/iep/swissprot:PDE2A_HUMAN inforesidue swissprot:PDE2A_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:PDE2A_HUMAN neXtProt NX_O00408 http://www.nextprot.org/db/entry/NX_O00408 octanol swissprot:PDE2A_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:PDE2A_HUMAN pepcoil swissprot:PDE2A_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:PDE2A_HUMAN pepdigest swissprot:PDE2A_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:PDE2A_HUMAN pepinfo swissprot:PDE2A_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:PDE2A_HUMAN pepnet swissprot:PDE2A_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:PDE2A_HUMAN pepstats swissprot:PDE2A_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:PDE2A_HUMAN pepwheel swissprot:PDE2A_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:PDE2A_HUMAN pepwindow swissprot:PDE2A_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:PDE2A_HUMAN sigcleave swissprot:PDE2A_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:PDE2A_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS ANKH_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9HCJ1-1; Sequence=Displayed; Name=2; IsoId=Q9HCJ1-2; Sequence=VSP_055824; Note=No experimental confirmation available.; # BioGrid 121103 2 # CCDS CCDS3885 -. [Q9HCJ1-1] # ChiTaRS ANKH human # DISEASE ANKH_HUMAN Chondrocalcinosis 2 (CCAL2) [MIM 118600] Chondrocalcinosis is a common cause of joint pain and arthritis caused by calcium deposition in articular cartilage and the presence of calcium hypophosphate crystals in synovial fluid, cartilage and periarticular soft tissue. CCAL2 inheritance is autosomal dominant. {ECO 0000269|PubMed 12297987, ECO 0000269|PubMed 12297989, ECO 0000269|PubMed 13130483}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE ANKH_HUMAN Craniometaphyseal dysplasia, autosomal dominant (CMDD) [MIM 123000] An osteochondrodysplasia characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses. Sclerosis of the skull may lead to asymmetry of the mandible, as well as to cranial nerve compression, that may finally result in hearing loss and facial palsy. {ECO 0000269|PubMed 11326272, ECO 0000269|PubMed 11326338}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000284268 ENSP00000284268; ENSG00000154122. [Q9HCJ1-1] # ExpressionAtlas Q9HCJ1 baseline and differential # FUNCTION ANKH_HUMAN Regulates intra- and extracellular levels of inorganic pyrophosphate (PPi), probably functioning as PPi transporter. # GO_component GO:0005886 plasma membrane; ISS:UniProtKB. # GO_component GO:0005887 integral component of plasma membrane; ISS:UniProtKB. # GO_component GO:0016021 integral component of membrane; IDA:UniProtKB. # GO_component GO:0019867 outer membrane; TAS:UniProtKB. # GO_function GO:0005315 inorganic phosphate transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0015114 phosphate ion transmembrane transporter activity; IEA:InterPro. # GO_function GO:0030504 inorganic diphosphate transmembrane transporter activity; IDA:UniProtKB. # GO_process GO:0001501 skeletal system development; NAS:UniProtKB. # GO_process GO:0007626 locomotory behavior; NAS:UniProtKB. # GO_process GO:0030500 regulation of bone mineralization; ISS:UniProtKB. # GO_process GO:0055085 transmembrane transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0008150 biological_process # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0055085 transmembrane transport # Genevisible Q9HCJ1 HS # HGNC HGNC:15492 ANKH # InterPro IPR009887 ANKH # KEGG_Disease H00491 [Skeletal dysplasia] Craniometaphyseal dysplasia # KEGG_Disease H01236 [Musculoskeletal disease] Familial articular chondrocalcinosis # MIM 118600 phenotype # MIM 123000 phenotype # MIM 605145 gene # Organism ANKH_HUMAN Homo sapiens (Human) # Orphanet 1416 Familial calcium pyrophosphate deposition # Orphanet 1522 Craniometaphyseal dysplasia # Pfam PF07260 ANKH # Proteomes UP000005640 Chromosome 5 # Reactome R-HSA-5223345 Miscellaneous transport and binding events # RecName ANKH_HUMAN Progressive ankylosis protein homolog # RefSeq NP_473368 NM_054027.4. [Q9HCJ1-1] # SEQUENCE CAUTION Sequence=BAB13407.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the ANKH family. {ECO 0000305}. # SUBCELLULAR LOCATION ANKH_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # TCDB 2.A.66.9 the multidrug/oligosaccharidyl-lipid/polysaccharide (mop) flippase superfamily # TISSUE SPECIFICITY ANKH_HUMAN Found in osteoblasts from mandibular bone and from iliac bone; not detected in osteoclastic cells. # UCSC uc003jfm human. [Q9HCJ1-1] # eggNOG ENOG410IH1E Eukaryota # eggNOG ENOG410ZCHM LUCA BLAST swissprot:ANKH_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ANKH_HUMAN BioCyc ZFISH:ENSG00000154122-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000154122-MONOMER COXPRESdb 56172 http://coxpresdb.jp/data/gene/56172.shtml CleanEx HS_ANKH http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ANKH DOI 10.1002/art.11133 http://dx.doi.org/10.1002/art.11133 DOI 10.1038/88236 http://dx.doi.org/10.1038/88236 DOI 10.1038/nature02919 http://dx.doi.org/10.1038/nature02919 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1086/320612 http://dx.doi.org/10.1086/320612 DOI 10.1086/343053 http://dx.doi.org/10.1086/343053 DOI 10.1086/343054 http://dx.doi.org/10.1086/343054 DOI 10.1093/dnares/7.4.271 http://dx.doi.org/10.1093/dnares/7.4.271 DOI 10.1101/gr.1293003 http://dx.doi.org/10.1101/gr.1293003 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.289.5477.265 http://dx.doi.org/10.1126/science.289.5477.265 EMBL AB046801 http://www.ebi.ac.uk/ena/data/view/AB046801 EMBL AC010491 http://www.ebi.ac.uk/ena/data/view/AC010491 EMBL AC016575 http://www.ebi.ac.uk/ena/data/view/AC016575 EMBL AC025456 http://www.ebi.ac.uk/ena/data/view/AC025456 EMBL AF274753 http://www.ebi.ac.uk/ena/data/view/AF274753 EMBL AK001799 http://www.ebi.ac.uk/ena/data/view/AK001799 EMBL AK315012 http://www.ebi.ac.uk/ena/data/view/AK315012 EMBL AY358503 http://www.ebi.ac.uk/ena/data/view/AY358503 EMBL BC009835 http://www.ebi.ac.uk/ena/data/view/BC009835 EMBL BC014526 http://www.ebi.ac.uk/ena/data/view/BC014526 EMBL CH471102 http://www.ebi.ac.uk/ena/data/view/CH471102 EMBL CH471102 http://www.ebi.ac.uk/ena/data/view/CH471102 Ensembl ENST00000284268 http://www.ensembl.org/id/ENST00000284268 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0019867 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019867 GO_function GO:0005315 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005315 GO_function GO:0015114 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015114 GO_function GO:0030504 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030504 GO_process GO:0001501 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001501 GO_process GO:0007626 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007626 GO_process GO:0030500 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030500 GO_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards ANKH http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ANKH GeneID 56172 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=56172 GeneTree ENSGT00390000012189 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000012189 HGNC HGNC:15492 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:15492 HOGENOM HOG000033943 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000033943&db=HOGENOM6 HOVERGEN HBG018728 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG018728&db=HOVERGEN HPA HPA068104 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA068104 InParanoid Q9HCJ1 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9HCJ1 IntAct Q9HCJ1 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9HCJ1* InterPro IPR009887 http://www.ebi.ac.uk/interpro/entry/IPR009887 Jabion 56172 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=56172 KEGG_Disease H00491 http://www.genome.jp/dbget-bin/www_bget?H00491 KEGG_Disease H01236 http://www.genome.jp/dbget-bin/www_bget?H01236 KEGG_Gene hsa:56172 http://www.genome.jp/dbget-bin/www_bget?hsa:56172 MIM 118600 http://www.ncbi.nlm.nih.gov/omim/118600 MIM 123000 http://www.ncbi.nlm.nih.gov/omim/123000 MIM 605145 http://www.ncbi.nlm.nih.gov/omim/605145 OMA YMGVHGA http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=YMGVHGA Orphanet 1416 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1416 Orphanet 1522 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1522 OrthoDB EOG091G0587 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0587 PSORT swissprot:ANKH_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ANKH_HUMAN PSORT-B swissprot:ANKH_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ANKH_HUMAN PSORT2 swissprot:ANKH_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ANKH_HUMAN Pfam PF07260 http://pfam.xfam.org/family/PF07260 PharmGKB PA24801 http://www.pharmgkb.org/do/serve?objId=PA24801&objCls=Gene Phobius swissprot:ANKH_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ANKH_HUMAN PhylomeDB Q9HCJ1 http://phylomedb.org/?seqid=Q9HCJ1 ProteinModelPortal Q9HCJ1 http://www.proteinmodelportal.org/query/uniprot/Q9HCJ1 PubMed 10894769 http://www.ncbi.nlm.nih.gov/pubmed/10894769 PubMed 10997877 http://www.ncbi.nlm.nih.gov/pubmed/10997877 PubMed 11326272 http://www.ncbi.nlm.nih.gov/pubmed/11326272 PubMed 11326338 http://www.ncbi.nlm.nih.gov/pubmed/11326338 PubMed 12297987 http://www.ncbi.nlm.nih.gov/pubmed/12297987 PubMed 12297989 http://www.ncbi.nlm.nih.gov/pubmed/12297989 PubMed 12975309 http://www.ncbi.nlm.nih.gov/pubmed/12975309 PubMed 13130483 http://www.ncbi.nlm.nih.gov/pubmed/13130483 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15372022 http://www.ncbi.nlm.nih.gov/pubmed/15372022 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 Reactome R-HSA-5223345 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5223345 RefSeq NP_473368 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_473368 STRING 9606.ENSP00000284268 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000284268&targetmode=cogs TCDB 2.A.66.9 http://www.tcdb.org/search/result.php?tc=2.A.66.9 UCSC uc003jfm http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003jfm&org=rat UniGene Hs.156727 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.156727 UniProtKB ANKH_HUMAN http://www.uniprot.org/uniprot/ANKH_HUMAN UniProtKB-AC Q9HCJ1 http://www.uniprot.org/uniprot/Q9HCJ1 charge swissprot:ANKH_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ANKH_HUMAN eggNOG ENOG410IH1E http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IH1E eggNOG ENOG410ZCHM http://eggnogapi.embl.de/nog_data/html/tree/ENOG410ZCHM epestfind swissprot:ANKH_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ANKH_HUMAN garnier swissprot:ANKH_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ANKH_HUMAN helixturnhelix swissprot:ANKH_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ANKH_HUMAN hmoment swissprot:ANKH_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ANKH_HUMAN iep swissprot:ANKH_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ANKH_HUMAN inforesidue swissprot:ANKH_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ANKH_HUMAN neXtProt NX_Q9HCJ1 http://www.nextprot.org/db/entry/NX_Q9HCJ1 octanol swissprot:ANKH_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ANKH_HUMAN pepcoil swissprot:ANKH_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ANKH_HUMAN pepdigest swissprot:ANKH_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ANKH_HUMAN pepinfo swissprot:ANKH_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ANKH_HUMAN pepnet swissprot:ANKH_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ANKH_HUMAN pepstats swissprot:ANKH_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ANKH_HUMAN pepwheel swissprot:ANKH_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ANKH_HUMAN pepwindow swissprot:ANKH_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ANKH_HUMAN sigcleave swissprot:ANKH_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ANKH_HUMAN ## Database ID URL or Descriptions # AltName CXA10_HUMAN Connexin-62 # Ensembl ENST00000369352 ENSP00000358358; ENSG00000135355 # FUNCTION CXA10_HUMAN One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell. Involved in tracer coupling between horizontal cells of the retina. May play a role in the regulation of horizontal cell patterning (By similarity). {ECO 0000250}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005922 connexin complex; IEA:InterPro. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0005243 gap junction channel activity; TAS:Reactome. # GO_process GO:0007154 cell communication; IEA:InterPro. # GO_process GO:0007276 gamete generation; IEA:Ensembl. # GO_process GO:0007416 synapse assembly; IEA:Ensembl. # GO_process GO:0050908 detection of light stimulus involved in visual perception; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043234 protein complex # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0008150 biological_process # GOslim_process GO:0022607 cellular component assembly # Genevisible Q969M2 HS # HGNC HGNC:16995 GJA10 # InterPro IPR000500 Connexin # InterPro IPR013092 Connexin_N # InterPro IPR017990 Connexin_CS # InterPro IPR019570 Connexin_CCC # MIM 611924 gene # Organism CXA10_HUMAN Homo sapiens (Human) # PANTHER PTHR11984 PTHR11984 # PRINTS PR00206 CONNEXIN # PROSITE PS00407 CONNEXINS_1 # PROSITE PS00408 CONNEXINS_2 # Pfam PF00029 Connexin # Proteomes UP000005640 Chromosome 6 # Reactome R-HSA-112303 Electric Transmission Across Gap Junctions # Reactome R-HSA-190861 Gap junction assembly # RecName CXA10_HUMAN Gap junction alpha-10 protein # RefSeq NP_115991 NM_032602.1 # SIMILARITY Belongs to the connexin family. Alpha-type (group II) subfamily. {ECO 0000305}. # SMART SM00037 CNX # SMART SM01089 Connexin_CCC # SUBCELLULAR LOCATION CXA10_HUMAN Cell membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. Cell junction, gap junction {ECO 0000250}. # SUBUNIT A connexon is composed of a hexamer of connexins. {ECO 0000250}. # TISSUE SPECIFICITY Expressed in skeletal muscle and heart. {ECO:0000269|PubMed 12881038}. # UCSC uc011eaa human # eggNOG ENOG410IGQJ Eukaryota # eggNOG ENOG4110KSA LUCA BLAST swissprot:CXA10_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CXA10_HUMAN BioCyc ZFISH:ENSG00000135355-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000135355-MONOMER COXPRESdb 84694 http://coxpresdb.jp/data/gene/84694.shtml CleanEx HS_GJA10 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_GJA10 DOI 10.1038/nature02055 http://dx.doi.org/10.1038/nature02055 DOI 10.1080/15419060302063 http://dx.doi.org/10.1080/15419060302063 DOI 10.1515/BC.2002.076 http://dx.doi.org/10.1515/BC.2002.076 EMBL AF296766 http://www.ebi.ac.uk/ena/data/view/AF296766 EMBL AJ414565 http://www.ebi.ac.uk/ena/data/view/AJ414565 EMBL AL353692 http://www.ebi.ac.uk/ena/data/view/AL353692 EMBL CH471051 http://www.ebi.ac.uk/ena/data/view/CH471051 Ensembl ENST00000369352 http://www.ensembl.org/id/ENST00000369352 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005922 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005922 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005243 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005243 GO_process GO:0007154 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007154 GO_process GO:0007276 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007276 GO_process GO:0007416 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007416 GO_process GO:0050908 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050908 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0022607 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022607 GeneCards GJA10 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=GJA10 GeneID 84694 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=84694 GeneTree ENSGT00840000129674 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00840000129674 HGNC HGNC:16995 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:16995 HOGENOM HOG000231126 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231126&db=HOGENOM6 HOVERGEN HBG009576 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG009576&db=HOVERGEN HPA HPA021145 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA021145 InParanoid Q969M2 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q969M2 InterPro IPR000500 http://www.ebi.ac.uk/interpro/entry/IPR000500 InterPro IPR013092 http://www.ebi.ac.uk/interpro/entry/IPR013092 InterPro IPR017990 http://www.ebi.ac.uk/interpro/entry/IPR017990 InterPro IPR019570 http://www.ebi.ac.uk/interpro/entry/IPR019570 Jabion 84694 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=84694 KEGG_Gene hsa:84694 http://www.genome.jp/dbget-bin/www_bget?hsa:84694 KEGG_Orthology KO:K07631 http://www.genome.jp/dbget-bin/www_bget?KO:K07631 MIM 611924 http://www.ncbi.nlm.nih.gov/omim/611924 OMA EVHSHST http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=EVHSHST OrthoDB EOG091G06LA http://cegg.unige.ch/orthodb/results?searchtext=EOG091G06LA PANTHER PTHR11984 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11984 PRINTS PR00206 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00206 PROSITE PS00407 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00407 PROSITE PS00408 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00408 PSORT swissprot:CXA10_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CXA10_HUMAN PSORT-B swissprot:CXA10_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CXA10_HUMAN PSORT2 swissprot:CXA10_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CXA10_HUMAN Pfam PF00029 http://pfam.xfam.org/family/PF00029 PharmGKB PA164741581 http://www.pharmgkb.org/do/serve?objId=PA164741581&objCls=Gene Phobius swissprot:CXA10_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CXA10_HUMAN PhylomeDB Q969M2 http://phylomedb.org/?seqid=Q969M2 ProteinModelPortal Q969M2 http://www.proteinmodelportal.org/query/uniprot/Q969M2 PubMed 12108537 http://www.ncbi.nlm.nih.gov/pubmed/12108537 PubMed 12881038 http://www.ncbi.nlm.nih.gov/pubmed/12881038 PubMed 14574404 http://www.ncbi.nlm.nih.gov/pubmed/14574404 Reactome R-HSA-112303 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-112303 Reactome R-HSA-190861 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-190861 RefSeq NP_115991 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_115991 SMART SM00037 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00037 SMART SM01089 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM01089 STRING 9606.ENSP00000358358 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000358358&targetmode=cogs UCSC uc011eaa http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc011eaa&org=rat UniGene Hs.334499 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.334499 UniProtKB CXA10_HUMAN http://www.uniprot.org/uniprot/CXA10_HUMAN UniProtKB-AC Q969M2 http://www.uniprot.org/uniprot/Q969M2 charge swissprot:CXA10_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CXA10_HUMAN eggNOG ENOG410IGQJ http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IGQJ eggNOG ENOG4110KSA http://eggnogapi.embl.de/nog_data/html/tree/ENOG4110KSA epestfind swissprot:CXA10_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CXA10_HUMAN garnier swissprot:CXA10_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CXA10_HUMAN helixturnhelix swissprot:CXA10_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CXA10_HUMAN hmoment swissprot:CXA10_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CXA10_HUMAN iep swissprot:CXA10_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CXA10_HUMAN inforesidue swissprot:CXA10_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CXA10_HUMAN neXtProt NX_Q969M2 http://www.nextprot.org/db/entry/NX_Q969M2 octanol swissprot:CXA10_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CXA10_HUMAN pepcoil swissprot:CXA10_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CXA10_HUMAN pepdigest swissprot:CXA10_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CXA10_HUMAN pepinfo swissprot:CXA10_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CXA10_HUMAN pepnet swissprot:CXA10_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CXA10_HUMAN pepstats swissprot:CXA10_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CXA10_HUMAN pepwheel swissprot:CXA10_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CXA10_HUMAN pepwindow swissprot:CXA10_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CXA10_HUMAN sigcleave swissprot:CXA10_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CXA10_HUMAN ## Database ID URL or Descriptions # AltName PIEZ1_HUMAN Membrane protein induced by beta-amyloid treatment # AltName PIEZ1_HUMAN Protein FAM38A # BioGrid 115124 11 # ChiTaRS PIEZO1 human # DEVELOPMENTAL STAGE At 17 weeks of gestation, strongly expressed in hepatic erythroblasts. At that stage, also expressed in fetal splenic plasma cells and in lymphatic vessel of fetal peritoneum. In vitro, up-regulated during the erythroid differentiation of CD34+ cells from healthy donors (at protein level). {ECO:0000269|PubMed 23479567}. # DISEASE PIEZ1_HUMAN Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema (DHS1) [MIM 194380] An autosomal dominant hemolytic anemia characterized by primary erythrocyte dehydration. DHS erythrocytes exhibit decreased total cation and potassium content that are not accompanied by a proportional net gain of sodium and water. DHS patients typically exhibit mild to moderate compensated hemolytic anemia, with an increased erythrocyte mean corpuscular hemoglobin concentration and a decreased osmotic fragility, both of which reflect cellular dehydration. Patients may also show perinatal edema and pseudohyperkalemia due to loss of potassium from red cells stored at room temperature. A minor proportion of red cells appear as stomatocytes on blood films. Complications such as splenomegaly and cholelithiasis, resulting from increased red cell trapping in the spleen and elevated bilirubin levels, respectively, may occur. The course of DHS is frequently associated with iron overload, which may lead to hepatosiderosis. {ECO 0000269|PubMed 22529292, ECO 0000269|PubMed 23479567, ECO 0000269|PubMed 23487776, ECO 0000269|PubMed 23581886, ECO 0000269|PubMed 23695678, ECO 0000269|PubMed 23973043}. Note=The disease is caused by mutations affecting the gene represented in this entry. All disease-causing mutations characterized so far produce a gain-of- function phenotype, mutated channels exhibiting increased cation transport in erythroid cells, that could be due to slower channel inactivation rate compared to the wild-type protein. # DISEASE PIEZ1_HUMAN Lymphedema, hereditary, 3 (LMPH3) [MIM 616843] A severe form of lymphedema, a chronic disabling condition which results in swelling of the extremities due to altered lymphatic flow. Patients with lymphedema suffer from recurrent local infections, and physical impairment. LMPH3 manifests as generalized lymphatic dysplasia, characterized by uniform, widespread lymphedema affecting all segments of the body, with systemic involvement such as intestinal and/or pulmonary lymphangiectasia, pleural effusions, chylothoraces and/or pericardial effusions, and with a high incidence of non-immune hydrops fetalis. {ECO 0000269|PubMed 26333996}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000301015 ENSP00000301015; ENSG00000103335 # ExpressionAtlas Q92508 baseline and differential # FUNCTION PIEZ1_HUMAN Pore-forming subunit of a mechanosensitive non-specific cation channel (PubMed 23479567, PubMed 23695678). Generates currents characterized by a linear current-voltage relationship that are sensitive to ruthenium red and gadolinium. Plays a key role in epithelial cell adhesion by maintaining integrin activation through R-Ras recruitment to the ER, most probably in its activated state, and subsequent stimulation of calpain signaling (PubMed 20016066). In the kidney, may contribute to the detection of intraluminal pressure changes and to urine flow sensing. Acts as shear-stress sensor that promotes endothelial cell organization and alignment in the direction of blood flow through calpain activation (PubMed 25119035). Plays a key role in blood vessel formation and vascular structure in both development and adult physiology (By similarity). {ECO 0000250|UniProtKB E2JF22, ECO 0000269|PubMed 20016066, ECO 0000269|PubMed 23479567, ECO 0000269|PubMed 23695678, ECO 0000269|PubMed 25119035}. # GO_component GO:0005783 endoplasmic reticulum; IDA:UniProtKB. # GO_component GO:0005789 endoplasmic reticulum membrane; IEA:UniProtKB-SubCell. # GO_component GO:0005886 plasma membrane; ISS:UniProtKB. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0031258 lamellipodium membrane; IEA:UniProtKB-SubCell. # GO_component GO:0033116 endoplasmic reticulum-Golgi intermediate compartment membrane; IEA:UniProtKB-SubCell. # GO_function GO:0005261 cation channel activity; ISS:UniProtKB. # GO_function GO:0008381 mechanically-gated ion channel activity; IEA:InterPro. # GO_process GO:0006812 cation transport; ISS:UniProtKB. # GO_process GO:0033625 positive regulation of integrin activation; IMP:UniProtKB. # GO_process GO:0033634 positive regulation of cell-cell adhesion mediated by integrin; IMP:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # Genevisible Q92508 HS # HGNC HGNC:28993 PIEZO1 # IntAct Q92508 10 # InterPro IPR027272 Piezo # InterPro IPR031334 Piezo_RRas-bd_dom # InterPro IPR031805 Piezo_dom # MIM 194380 phenotype # MIM 611184 gene # MIM 616843 phenotype # MISCELLANEOUS PIEZ1_HUMAN Piezo comes from the Greek 'piesi' meaning pressure. # Organism PIEZ1_HUMAN Homo sapiens (Human) # Orphanet 3202 Dehydrated hereditary stomatocytosis # PANTHER PTHR13167 PTHR13167; 2 # Pfam PF12166 Piezo_RRas_bdg # Pfam PF15917 PIEZO # Proteomes UP000005640 Chromosome 16 # RecName PIEZ1_HUMAN Piezo-type mechanosensitive ion channel component 1 # RefSeq NP_001136336 NM_001142864.3 # SIMILARITY Belongs to the PIEZO (TC 1.A.75) family. {ECO 0000305}. # SUBCELLULAR LOCATION PIEZ1_HUMAN Endoplasmic reticulum membrane {ECO 0000269|PubMed 20016066}; Multi-pass membrane protein. Endoplasmic reticulum-Golgi intermediate compartment membrane {ECO 0000250|UniProtKB Q0KL00}. Cell membrane {ECO 0000269|PubMed 22529292, ECO 0000269|PubMed 23479567}; Multi- pass membrane protein {ECO 0000305}. Cell projection, lamellipodium membrane {ECO 0000269|PubMed 25119035}. Note=In erythrocytes, located in the plasma membrane (PubMed 22529292, PubMed 23479567). Accumulates at the leading apical lamellipodia of endothelial cells in response to shear stress (PubMed 25119035). {ECO 0000269|PubMed 22529292, ECO 0000269|PubMed 23479567, ECO 0000269|PubMed 25119035}. # SUBUNIT Homotrimer. Interacts with PKD2. Interacts with STOML3. {ECO:0000250|UniProtKB E2JF22}. # TCDB 1.A.75.1 the mechanical nociceptor, piezo (piezo) family # TISSUE SPECIFICITY PIEZ1_HUMAN Expressed in numerous tissues. In normal brain, expressed exclusively in neurons, not in astrocytes. In Alzheimer disease brains, expressed in about half of the activated astrocytes located around classical senile plaques. In Parkinson disease substantia nigra, not detected in melanin-containing neurons nor in activated astrocytes. Expressed in erythrocytes (at protein level). {ECO 0000269|PubMed 16854388, ECO 0000269|PubMed 22529292, ECO 0000269|PubMed 23479567}. # UCSC uc010vpb human # eggNOG ENOG410YVF6 LUCA # eggNOG KOG1893 Eukaryota BLAST swissprot:PIEZ1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:PIEZ1_HUMAN BioCyc ZFISH:ENSG00000103335-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000103335-MONOMER COXPRESdb 9780 http://coxpresdb.jp/data/gene/9780.shtml CleanEx HS_FAM38A http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_FAM38A DOI 10.1016/j.bcmd.2013.07.015 http://dx.doi.org/10.1016/j.bcmd.2013.07.015 DOI 10.1016/j.brainres.2006.06.050 http://dx.doi.org/10.1016/j.brainres.2006.06.050 DOI 10.1016/j.cell.2006.09.026 http://dx.doi.org/10.1016/j.cell.2006.09.026 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature03187 http://dx.doi.org/10.1038/nature03187 DOI 10.1038/nature13701 http://dx.doi.org/10.1038/nature13701 DOI 10.1038/nbt.1532 http://dx.doi.org/10.1038/nbt.1532 DOI 10.1038/ncomms2899 http://dx.doi.org/10.1038/ncomms2899 DOI 10.1038/ncomms9085 http://dx.doi.org/10.1038/ncomms9085 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1073/pnas.1219777110 http://dx.doi.org/10.1073/pnas.1219777110 DOI 10.1093/dnares/3.5.321 http://dx.doi.org/10.1093/dnares/3.5.321 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/cge.12147 http://dx.doi.org/10.1111/cge.12147 DOI 10.1126/scisignal.2000007 http://dx.doi.org/10.1126/scisignal.2000007 DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 DOI 10.1182/blood-2012-04-422253 http://dx.doi.org/10.1182/blood-2012-04-422253 DOI 10.1182/blood-2013-02-482489 http://dx.doi.org/10.1182/blood-2013-02-482489 DOI 10.1242/jcs.056424 http://dx.doi.org/10.1242/jcs.056424 EMBL AB161230 http://www.ebi.ac.uk/ena/data/view/AB161230 EMBL AC138028 http://www.ebi.ac.uk/ena/data/view/AC138028 EMBL BC150271 http://www.ebi.ac.uk/ena/data/view/BC150271 EMBL D87071 http://www.ebi.ac.uk/ena/data/view/D87071 Ensembl ENST00000301015 http://www.ensembl.org/id/ENST00000301015 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GO_component GO:0005789 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005789 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0031258 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031258 GO_component GO:0033116 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033116 GO_function GO:0005261 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005261 GO_function GO:0008381 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008381 GO_process GO:0006812 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006812 GO_process GO:0033625 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033625 GO_process GO:0033634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033634 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GeneCards PIEZO1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=PIEZO1 GeneID 9780 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=9780 GeneTree ENSGT00390000013029 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000013029 H-InvDB HIX0022749 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0022749 H-InvDB HIX0173225 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0173225 HGNC HGNC:28993 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:28993 HOVERGEN HBG107901 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG107901&db=HOVERGEN HPA HPA047185 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA047185 InParanoid Q92508 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q92508 IntAct Q92508 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q92508* InterPro IPR027272 http://www.ebi.ac.uk/interpro/entry/IPR027272 InterPro IPR031334 http://www.ebi.ac.uk/interpro/entry/IPR031334 InterPro IPR031805 http://www.ebi.ac.uk/interpro/entry/IPR031805 Jabion 9780 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=9780 KEGG_Gene hsa:9780 http://www.genome.jp/dbget-bin/www_bget?hsa:9780 MIM 194380 http://www.ncbi.nlm.nih.gov/omim/194380 MIM 611184 http://www.ncbi.nlm.nih.gov/omim/611184 MIM 616843 http://www.ncbi.nlm.nih.gov/omim/616843 MINT MINT-4991257 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-4991257 OMA WDSICFF http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=WDSICFF Orphanet 3202 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=3202 OrthoDB EOG091G0SD8 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0SD8 PANTHER PTHR13167 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR13167 PSORT swissprot:PIEZ1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:PIEZ1_HUMAN PSORT-B swissprot:PIEZ1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:PIEZ1_HUMAN PSORT2 swissprot:PIEZ1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:PIEZ1_HUMAN Pfam PF12166 http://pfam.xfam.org/family/PF12166 Pfam PF15917 http://pfam.xfam.org/family/PF15917 Phobius swissprot:PIEZ1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:PIEZ1_HUMAN PhylomeDB Q92508 http://phylomedb.org/?seqid=Q92508 ProteinModelPortal Q92508 http://www.proteinmodelportal.org/query/uniprot/Q92508 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15616553 http://www.ncbi.nlm.nih.gov/pubmed/15616553 PubMed 16854388 http://www.ncbi.nlm.nih.gov/pubmed/16854388 PubMed 17081983 http://www.ncbi.nlm.nih.gov/pubmed/17081983 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 19349973 http://www.ncbi.nlm.nih.gov/pubmed/19349973 PubMed 19690332 http://www.ncbi.nlm.nih.gov/pubmed/19690332 PubMed 20016066 http://www.ncbi.nlm.nih.gov/pubmed/20016066 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 22529292 http://www.ncbi.nlm.nih.gov/pubmed/22529292 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 23479567 http://www.ncbi.nlm.nih.gov/pubmed/23479567 PubMed 23487776 http://www.ncbi.nlm.nih.gov/pubmed/23487776 PubMed 23581886 http://www.ncbi.nlm.nih.gov/pubmed/23581886 PubMed 23695678 http://www.ncbi.nlm.nih.gov/pubmed/23695678 PubMed 23973043 http://www.ncbi.nlm.nih.gov/pubmed/23973043 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 25119035 http://www.ncbi.nlm.nih.gov/pubmed/25119035 PubMed 26333996 http://www.ncbi.nlm.nih.gov/pubmed/26333996 PubMed 9039502 http://www.ncbi.nlm.nih.gov/pubmed/9039502 RefSeq NP_001136336 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001136336 STRING 9606.ENSP00000301015 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000301015&targetmode=cogs TCDB 1.A.75.1 http://www.tcdb.org/search/result.php?tc=1.A.75.1 UCSC uc010vpb http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc010vpb&org=rat UniGene Hs.377001 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.377001 UniGene Hs.592074 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.592074 UniProtKB PIEZ1_HUMAN http://www.uniprot.org/uniprot/PIEZ1_HUMAN UniProtKB-AC Q92508 http://www.uniprot.org/uniprot/Q92508 charge swissprot:PIEZ1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:PIEZ1_HUMAN eggNOG ENOG410YVF6 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410YVF6 eggNOG KOG1893 http://eggnogapi.embl.de/nog_data/html/tree/KOG1893 epestfind swissprot:PIEZ1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:PIEZ1_HUMAN garnier swissprot:PIEZ1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:PIEZ1_HUMAN helixturnhelix swissprot:PIEZ1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:PIEZ1_HUMAN hmoment swissprot:PIEZ1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:PIEZ1_HUMAN iep swissprot:PIEZ1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:PIEZ1_HUMAN inforesidue swissprot:PIEZ1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:PIEZ1_HUMAN neXtProt NX_Q92508 http://www.nextprot.org/db/entry/NX_Q92508 octanol swissprot:PIEZ1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:PIEZ1_HUMAN pepcoil swissprot:PIEZ1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:PIEZ1_HUMAN pepdigest swissprot:PIEZ1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:PIEZ1_HUMAN pepinfo swissprot:PIEZ1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:PIEZ1_HUMAN pepnet swissprot:PIEZ1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:PIEZ1_HUMAN pepstats swissprot:PIEZ1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:PIEZ1_HUMAN pepwheel swissprot:PIEZ1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:PIEZ1_HUMAN pepwindow swissprot:PIEZ1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:PIEZ1_HUMAN sigcleave swissprot:PIEZ1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:PIEZ1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS SCNBA_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9UI33-1; Sequence=Displayed; Name=2; Synonyms=Scn12a-s; IsoId=Q9UI33-2; Sequence=VSP_012260, VSP_012261; Name=3; IsoId=Q9UI33-3; Sequence=VSP_012259; Note=No experimental confirmation available.; # AltName SCNBA_HUMAN Peripheral nerve sodium channel 5 # AltName SCNBA_HUMAN Sensory neuron sodium channel 2 # AltName SCNBA_HUMAN Sodium channel protein type XI subunit alpha # AltName SCNBA_HUMAN Voltage-gated sodium channel subunit alpha Nav1.9 # AltName SCNBA_HUMAN hNaN # CCDS CCDS33737 -. [Q9UI33-1] # ChiTaRS SCN11A human # DISEASE SCNBA_HUMAN Episodic pain syndrome, familial, 3 (FEPS3) [MIM 615552] An autosomal dominant neurologic disorder characterized by paroxysmal pain mainly affecting the distal lower extremities and occasionally the upper body, especially the joints of fingers and arms. The pain is exacerbated with fatigue. {ECO 0000269|PubMed 24207120, ECO 0000269|PubMed 24776970, ECO 0000269|PubMed 25791876, ECO 0000269|PubMed 27224030}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE SCNBA_HUMAN Neuropathy, hereditary sensory and autonomic, 7 (HSAN7) [MIM 615548] A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN7 is characterized by congenital inability to experience pain resulting in self-mutilations, slow-healing wounds, and multiple painless fractures. mild muscle weakness, delayed motor development, slightly reduced motor and sensory nerve conduction velocities, hyperhidrosis and gastrointestinal dysfunction. {ECO 0000269|PubMed 24036948, ECO 0000269|PubMed 26645915}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DOMAIN SCNBA_HUMAN The sequence contains 4 internal repeats, each with 5 hydrophobic segments (S1,S2,S3,S5,S6) and one positively charged segment (S4). Segments S4 are probably the voltage-sensors and are characterized by a series of positively charged amino acids at every third position. # DrugBank DB00313 Valproic Acid # DrugBank DB00907 Cocaine # DrugBank DB00909 Zonisamide # Ensembl ENST00000302328 ENSP00000307599; ENSG00000168356. [Q9UI33-1] # Ensembl ENST00000444237 ENSP00000408028; ENSG00000168356. [Q9UI33-2] # Ensembl ENST00000456224 ENSP00000416757; ENSG00000168356. [Q9UI33-3] # FUNCTION SCNBA_HUMAN This protein mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which sodium ions may pass in accordance with their electrochemical gradient. It is a tetrodotoxin-resistant sodium channel isoform. Also involved, with the contribution of the receptor tyrosine kinase NTRK2, in rapid BDNF-evoked neuronal depolarization. {ECO 0000269|PubMed 10580103, ECO 0000269|PubMed 12384689}. # GO_component GO:0001518 voltage-gated sodium channel complex; IEA:InterPro. # GO_component GO:0005886 plasma membrane; IBA:GO_Central. # GO_component GO:0044299 C-fiber; IEA:Ensembl. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0005248 voltage-gated sodium channel activity; TAS:ProtInc. # GO_process GO:0006814 sodium ion transport; TAS:ProtInc. # GO_process GO:0019228 neuronal action potential; IBA:GO_Central. # GO_process GO:0042493 response to drug; TAS:ProtInc. # GO_process GO:0051930 regulation of sensory perception of pain; ISS:UniProtKB. # GO_process GO:0086010 membrane depolarization during action potential; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # Gene3D 1.20.120.350 -; 4. # Genevisible Q9UI33 HS # HGNC HGNC:10583 SCN11A # InterPro IPR001696 Na_channel_asu # InterPro IPR005821 Ion_trans_dom # InterPro IPR010526 Na_trans_assoc # InterPro IPR027359 Channel_four-helix_dom # InterPro IPR028821 Na_channel_a11su # KEGG_Brite ko04040 Ion channels # KEGG_Disease H01391 [Nervous system disease] Familial episodic pain syndrome (FEPS) # MIM 604385 gene # MIM 615548 phenotype # MIM 615552 phenotype # Organism SCNBA_HUMAN Homo sapiens (Human) # Orphanet 306577 Sodium channelopathy-related small fiber neuropathy # Orphanet 391392 Familial episodic pain syndrome with predominantly lower limb involvement # Orphanet 391397 Hereditary sensory and autonomic neuropathy type 7 # Orphanet 46348 Paroxysmal extreme pain disorder # Orphanet 88642 Channelopathy-associated congenital insensitivity to pain # Orphanet 90026 Primary erythermalgia # PANTHER PTHR10037:SF210 PTHR10037:SF210; 2 # PRINTS PR00170 NACHANNEL # PTM SCNBA_HUMAN Phosphorylation at Ser-1341 by PKC in a highly conserved cytoplasmic loop slows inactivation of the sodium channel and reduces peak sodium currents. {ECO 0000250}. # Pfam PF00520 Ion_trans; 4 # Pfam PF06512 Na_trans_assoc # Proteomes UP000005640 Chromosome 3 # Reactome R-HSA-445095 Interaction between L1 and Ankyrins # Reactome R-HSA-5576892 Phase 0 - rapid depolarisation # RecName SCNBA_HUMAN Sodium channel protein type 11 subunit alpha # RefSeq NP_001274152 NM_001287223.1. [Q9UI33-1] # RefSeq NP_054858 NM_014139.2. [Q9UI33-1] # RefSeq XP_016861138 XM_017005649.1. [Q9UI33-1] # RefSeq XP_016861139 XM_017005650.1. [Q9UI33-1] # SIMILARITY Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.9/SCN11A subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION SCNBA_HUMAN Cell membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. # SUBUNIT SCNBA_HUMAN The voltage-resistant sodium channel consists of an ion conducting pore forming alpha-subunit regulated by one or more auxiliary subunits SCN1B, SCN2B and SCN3B. # TCDB 1.A.1.10 the voltage-gated ion channel (vic) superfamily # TISSUE SPECIFICITY SCNBA_HUMAN Expressed in the dorsal root ganglia and trigeminal ganglia, olfactory bulb, hippocampus, cerebellar cortex, spinal cord, spleen, small intestine and placenta. {ECO 0000269|PubMed 10623608, ECO 0000269|PubMed 15302875}. # UCSC uc003cis human. [Q9UI33-1] # eggNOG ENOG410XNP6 LUCA # eggNOG KOG2301 Eukaryota BLAST swissprot:SCNBA_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SCNBA_HUMAN COXPRESdb 11280 http://coxpresdb.jp/data/gene/11280.shtml CleanEx HS_SCN11A http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SCN11A DOI 10.1006/bbrc.1999.1916 http://dx.doi.org/10.1006/bbrc.1999.1916 DOI 10.1007/s12017-015-8347-9 http://dx.doi.org/10.1007/s12017-015-8347-9 DOI 10.1016/S0014-5793(99)01519-7 http://dx.doi.org/10.1016/S0014-5793(99)01519-7 DOI 10.1016/S0166-2236(02)00030-9 http://dx.doi.org/10.1016/S0166-2236(02)00030-9 DOI 10.1016/j.ajhg.2013.09.016 http://dx.doi.org/10.1016/j.ajhg.2013.09.016 DOI 10.1038/nature01085 http://dx.doi.org/10.1038/nature01085 DOI 10.1038/nature04728 http://dx.doi.org/10.1038/nature04728 DOI 10.1038/ncomms10049 http://dx.doi.org/10.1038/ncomms10049 DOI 10.1038/ng.2767 http://dx.doi.org/10.1038/ng.2767 DOI 10.1074/jbc.M406387200 http://dx.doi.org/10.1074/jbc.M406387200 DOI 10.1093/brain/awu079 http://dx.doi.org/10.1093/brain/awu079 DOI 10.1371/journal.pone.0154827 http://dx.doi.org/10.1371/journal.pone.0154827 DrugBank DB00313 http://www.drugbank.ca/drugs/DB00313 DrugBank DB00907 http://www.drugbank.ca/drugs/DB00907 DrugBank DB00909 http://www.drugbank.ca/drugs/DB00909 EMBL AC116038 http://www.ebi.ac.uk/ena/data/view/AC116038 EMBL AF109737 http://www.ebi.ac.uk/ena/data/view/AF109737 EMBL AF150882 http://www.ebi.ac.uk/ena/data/view/AF150882 EMBL AF188679 http://www.ebi.ac.uk/ena/data/view/AF188679 EMBL AJ417790 http://www.ebi.ac.uk/ena/data/view/AJ417790 EMBL AY686224 http://www.ebi.ac.uk/ena/data/view/AY686224 Ensembl ENST00000302328 http://www.ensembl.org/id/ENST00000302328 Ensembl ENST00000444237 http://www.ensembl.org/id/ENST00000444237 Ensembl ENST00000456224 http://www.ensembl.org/id/ENST00000456224 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0001518 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001518 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0044299 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044299 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0005248 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005248 GO_process GO:0006814 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006814 GO_process GO:0019228 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019228 GO_process GO:0042493 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042493 GO_process GO:0051930 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051930 GO_process GO:0086010 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086010 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 Gene3D 1.20.120.350 http://www.cathdb.info/version/latest/superfamily/1.20.120.350 GeneCards SCN11A http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SCN11A GeneID 11280 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=11280 GeneTree ENSGT00830000128242 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00830000128242 HGNC HGNC:10583 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10583 HOVERGEN HBG053100 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG053100&db=HOVERGEN HPA HPA036746 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA036746 HPA HPA036747 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA036747 InParanoid Q9UI33 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9UI33 IntAct Q9UI33 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9UI33* InterPro IPR001696 http://www.ebi.ac.uk/interpro/entry/IPR001696 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR010526 http://www.ebi.ac.uk/interpro/entry/IPR010526 InterPro IPR027359 http://www.ebi.ac.uk/interpro/entry/IPR027359 InterPro IPR028821 http://www.ebi.ac.uk/interpro/entry/IPR028821 Jabion 11280 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=11280 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H01391 http://www.genome.jp/dbget-bin/www_bget?H01391 KEGG_Gene hsa:11280 http://www.genome.jp/dbget-bin/www_bget?hsa:11280 KEGG_Orthology KO:K04843 http://www.genome.jp/dbget-bin/www_bget?KO:K04843 MIM 604385 http://www.ncbi.nlm.nih.gov/omim/604385 MIM 615548 http://www.ncbi.nlm.nih.gov/omim/615548 MIM 615552 http://www.ncbi.nlm.nih.gov/omim/615552 OMA LENFNTA http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=LENFNTA Orphanet 306577 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=306577 Orphanet 391392 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=391392 Orphanet 391397 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=391397 Orphanet 46348 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=46348 Orphanet 88642 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=88642 Orphanet 90026 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=90026 OrthoDB EOG091G00FK http://cegg.unige.ch/orthodb/results?searchtext=EOG091G00FK PANTHER PTHR10037:SF210 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10037:SF210 PRINTS PR00170 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00170 PSORT swissprot:SCNBA_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SCNBA_HUMAN PSORT-B swissprot:SCNBA_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SCNBA_HUMAN PSORT2 swissprot:SCNBA_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SCNBA_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF06512 http://pfam.xfam.org/family/PF06512 PharmGKB PA35001 http://www.pharmgkb.org/do/serve?objId=PA35001&objCls=Gene Phobius swissprot:SCNBA_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SCNBA_HUMAN PhylomeDB Q9UI33 http://phylomedb.org/?seqid=Q9UI33 ProteinModelPortal Q9UI33 http://www.proteinmodelportal.org/query/uniprot/Q9UI33 PubMed 10580103 http://www.ncbi.nlm.nih.gov/pubmed/10580103 PubMed 10623608 http://www.ncbi.nlm.nih.gov/pubmed/10623608 PubMed 12384689 http://www.ncbi.nlm.nih.gov/pubmed/12384689 PubMed 12536125 http://www.ncbi.nlm.nih.gov/pubmed/12536125 PubMed 15302875 http://www.ncbi.nlm.nih.gov/pubmed/15302875 PubMed 16641997 http://www.ncbi.nlm.nih.gov/pubmed/16641997 PubMed 24036948 http://www.ncbi.nlm.nih.gov/pubmed/24036948 PubMed 24207120 http://www.ncbi.nlm.nih.gov/pubmed/24207120 PubMed 24776970 http://www.ncbi.nlm.nih.gov/pubmed/24776970 PubMed 25791876 http://www.ncbi.nlm.nih.gov/pubmed/25791876 PubMed 26645915 http://www.ncbi.nlm.nih.gov/pubmed/26645915 PubMed 27224030 http://www.ncbi.nlm.nih.gov/pubmed/27224030 Reactome R-HSA-445095 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-445095 Reactome R-HSA-5576892 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576892 RefSeq NP_001274152 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001274152 RefSeq NP_054858 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_054858 RefSeq XP_016861138 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016861138 RefSeq XP_016861139 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016861139 STRING 9606.ENSP00000307599 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000307599&targetmode=cogs TCDB 1.A.1.10 http://www.tcdb.org/search/result.php?tc=1.A.1.10 UCSC uc003cis http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003cis&org=rat UniGene Hs.591657 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.591657 UniProtKB SCNBA_HUMAN http://www.uniprot.org/uniprot/SCNBA_HUMAN UniProtKB-AC Q9UI33 http://www.uniprot.org/uniprot/Q9UI33 charge swissprot:SCNBA_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SCNBA_HUMAN eggNOG ENOG410XNP6 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XNP6 eggNOG KOG2301 http://eggnogapi.embl.de/nog_data/html/tree/KOG2301 epestfind swissprot:SCNBA_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SCNBA_HUMAN garnier swissprot:SCNBA_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SCNBA_HUMAN helixturnhelix swissprot:SCNBA_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SCNBA_HUMAN hmoment swissprot:SCNBA_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SCNBA_HUMAN iep swissprot:SCNBA_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SCNBA_HUMAN inforesidue swissprot:SCNBA_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SCNBA_HUMAN neXtProt NX_Q9UI33 http://www.nextprot.org/db/entry/NX_Q9UI33 octanol swissprot:SCNBA_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SCNBA_HUMAN pepcoil swissprot:SCNBA_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SCNBA_HUMAN pepdigest swissprot:SCNBA_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SCNBA_HUMAN pepinfo swissprot:SCNBA_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SCNBA_HUMAN pepnet swissprot:SCNBA_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SCNBA_HUMAN pepstats swissprot:SCNBA_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SCNBA_HUMAN pepwheel swissprot:SCNBA_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SCNBA_HUMAN pepwindow swissprot:SCNBA_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SCNBA_HUMAN sigcleave swissprot:SCNBA_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SCNBA_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS Event=Alternative splicing; Named isoforms=3; Name=1; Synonyms=PSD95-alpha; IsoId=P78352-1; Sequence=Displayed; Name=2; Synonyms=PSD95-beta; IsoId=P78352-2; Sequence=VSP_014929; Note=Ref.3 (AAD56173) sequence is in conflict in position: 46 E->V. {ECO:0000305}; Name=3; IsoId=P78352-3; Sequence=VSP_047247; # AltName DLG4_HUMAN Postsynaptic density protein 95 # AltName DLG4_HUMAN Synapse-associated protein 90 # BioGrid 108086 85 # CCDS CCDS45599 -. [P78352-2] # CCDS CCDS45600 -. [P78352-3] # CCDS CCDS82050 -. [P78352-1] # ChiTaRS DLG4 human # DOMAIN DLG4_HUMAN The L27 domain near the N-terminus of isoform 2 is required for HGS/HRS-dependent targeting to postsynaptic density. # DOMAIN DLG4_HUMAN The PDZ domain 3 mediates interaction with ADR1B. # DrugBank DB00536 Guanidine # Ensembl ENST00000302955 ENSP00000307471; ENSG00000132535. [P78352-3] # Ensembl ENST00000399506 ENSP00000382425; ENSG00000132535. [P78352-1] # Ensembl ENST00000399510 ENSP00000382428; ENSG00000132535. [P78352-2] # ExpressionAtlas P78352 baseline and differential # FUNCTION DLG4_HUMAN Interacts with the cytoplasmic tail of NMDA receptor subunits and shaker-type potassium channels. Required for synaptic plasticity associated with NMDA receptor signaling. Overexpression or depletion of DLG4 changes the ratio of excitatory to inhibitory synapses in hippocampal neurons. May reduce the amplitude of ASIC3 acid-evoked currents by retaining the channel intracellularly. May regulate the intracellular trafficking of ADR1B (By similarity). {ECO 0000250}. # GO_component GO:0005737 cytoplasm; ISS:BHF-UCL. # GO_component GO:0005783 endoplasmic reticulum; ISS:BHF-UCL. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0008021 synaptic vesicle; ISS:BHF-UCL. # GO_component GO:0014069 postsynaptic density; ISS:UniProtKB. # GO_component GO:0016323 basolateral plasma membrane; IBA:GO_Central. # GO_component GO:0030054 cell junction; ISS:BHF-UCL. # GO_component GO:0030666 endocytic vesicle membrane; TAS:Reactome. # GO_component GO:0030863 cortical cytoskeleton; IDA:UniProtKB. # GO_component GO:0031234 extrinsic component of cytoplasmic side of plasma membrane; ISS:BHF-UCL. # GO_component GO:0032281 AMPA glutamate receptor complex; ISS:BHF-UCL. # GO_component GO:0032839 dendrite cytoplasm; ISS:BHF-UCL. # GO_component GO:0043197 dendritic spine; ISS:ParkinsonsUK-UCL. # GO_component GO:0044224 juxtaparanode region of axon; ISS:BHF-UCL. # GO_component GO:0044300 cerebellar mossy fiber; IEA:Ensembl. # GO_component GO:0044306 neuron projection terminus; ISS:BHF-UCL. # GO_component GO:0044309 neuron spine; ISS:BHF-UCL. # GO_component GO:0045202 synapse; IDA:BHF-UCL. # GO_component GO:0045211 postsynaptic membrane; IDA:UniProtKB. # GO_component GO:0060076 excitatory synapse; ISS:BHF-UCL. # GO_function GO:0004385 guanylate kinase activity; IBA:GO_Central. # GO_function GO:0005088 Ras guanyl-nucleotide exchange factor activity; TAS:Reactome. # GO_function GO:0008022 protein C-terminus binding; IPI:UniProtKB. # GO_function GO:0015276 ligand-gated ion channel activity; TAS:Reactome. # GO_function GO:0019900 kinase binding; IDA:MGI. # GO_function GO:0019903 protein phosphatase binding; ISS:BHF-UCL. # GO_function GO:0030165 PDZ domain binding; ISS:BHF-UCL. # GO_function GO:0031697 beta-1 adrenergic receptor binding; ISS:BHF-UCL. # GO_function GO:0031748 D1 dopamine receptor binding; ISS:BHF-UCL. # GO_function GO:0031812 P2Y1 nucleotide receptor binding; ISS:BHF-UCL. # GO_function GO:0032403 protein complex binding; ISS:BHF-UCL. # GO_function GO:0033130 acetylcholine receptor binding; ISS:BHF-UCL. # GO_function GO:0035255 ionotropic glutamate receptor binding; ISS:BHF-UCL. # GO_function GO:0097109 neuroligin family protein binding; ISS:BHF-UCL. # GO_function GO:0097110 scaffold protein binding; ISS:BHF-UCL. # GO_process GO:0000165 MAPK cascade; TAS:Reactome. # GO_process GO:0002091 negative regulation of receptor internalization; ISS:BHF-UCL. # GO_process GO:0006461 protein complex assembly; IDA:BHF-UCL. # GO_process GO:0007165 signal transduction; TAS:ProtInc. # GO_process GO:0007204 positive regulation of cytosolic calcium ion concentration; ISS:BHF-UCL. # GO_process GO:0007268 chemical synaptic transmission; TAS:Reactome. # GO_process GO:0007399 nervous system development; TAS:ProtInc. # GO_process GO:0007612 learning; TAS:ProtInc. # GO_process GO:0016188 synaptic vesicle maturation; ISS:BHF-UCL. # GO_process GO:0035176 social behavior; IEA:Ensembl. # GO_process GO:0035418 protein localization to synapse; IDA:BHF-UCL. # GO_process GO:0035641 locomotory exploration behavior; IEA:Ensembl. # GO_process GO:0045184 establishment of protein localization; IDA:BHF-UCL. # GO_process GO:0045197 establishment or maintenance of epithelial cell apical/basal polarity; IBA:GO_Central. # GO_process GO:0048169 regulation of long-term neuronal synaptic plasticity; ISS:BHF-UCL. # GO_process GO:0050806 positive regulation of synaptic transmission; ISS:BHF-UCL. # GO_process GO:0050885 neuromuscular process controlling balance; IEA:Ensembl. # GO_process GO:0060997 dendritic spine morphogenesis; ISS:BHF-UCL. # GO_process GO:0071625 vocalization behavior; IEA:Ensembl. # GO_process GO:0097113 AMPA glutamate receptor clustering; ISS:BHF-UCL. # GO_process GO:0097120 receptor localization to synapse; ISS:BHF-UCL. # GO_process GO:2000310 regulation of N-methyl-D-aspartate selective glutamate receptor activity; ISS:BHF-UCL. # GO_process GO:2000463 positive regulation of excitatory postsynaptic potential; ISS:BHF-UCL. # GO_process GO:2000821 regulation of grooming behavior; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_component GO:0005856 cytoskeleton # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0031410 cytoplasmic vesicle # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0016301 kinase activity # GOslim_function GO:0019899 enzyme binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006464 cellular protein modification process # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # GOslim_process GO:0021700 developmental maturation # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0050877 neurological system process # GOslim_process GO:0061024 membrane organization # Gene3D 2.30.42.10 -; 3. # Gene3D 3.40.50.300 -; 2. # Genevisible P78352 HS # HGNC HGNC:2903 DLG4 # INTERACTION DLG4_HUMAN Q9P021 CRIPT; NbExp=4; IntAct=EBI-80389, EBI-946968; O14490 DLGAP1; NbExp=5; IntAct=EBI-80389, EBI-1753207; P97836-5 Dlgap1 (xeno); NbExp=3; IntAct=EBI-80389, EBI-6269434; Q15303 ERBB4; NbExp=6; IntAct=EBI-80389, EBI-80371; Q8VDU0 Gpsm2 (xeno); NbExp=7; IntAct=EBI-80389, EBI-7575403; Q12879 GRIN2A; NbExp=3; IntAct=EBI-80389, EBI-7249937; Q13224 GRIN2B; NbExp=2; IntAct=EBI-80389, EBI-2256942; Q14957 GRIN2C; NbExp=4; IntAct=EBI-80389, EBI-8285963; Q09470 KCNA1; NbExp=2; IntAct=EBI-80389, EBI-8286599; P10499 Kcna1 (xeno); NbExp=2; IntAct=EBI-80389, EBI-631463; P63142 Kcna2 (xeno); NbExp=2; IntAct=EBI-80389, EBI-631446; P15384 Kcna3 (xeno); NbExp=2; IntAct=EBI-80389, EBI-631478; P22459 KCNA4; NbExp=2; IntAct=EBI-80389, EBI-631235; P15385 Kcna4 (xeno); NbExp=9; IntAct=EBI-80389, EBI-631417; O60333-3 KIF1B; NbExp=4; IntAct=EBI-80389, EBI-465669; Q00987 MDM2; NbExp=3; IntAct=EBI-80389, EBI-389668; # IntAct P78352 33 # InterPro IPR001452 SH3_domain # InterPro IPR001478 PDZ # InterPro IPR008144 Guanylate_kin-like_dom # InterPro IPR008145 GK/Ca_channel_bsu # InterPro IPR016313 DLG1 # InterPro IPR019583 PDZ_assoc # InterPro IPR019590 DLG1_PEST_dom # InterPro IPR020590 Guanylate_kinase_CS # InterPro IPR027417 P-loop_NTPase # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04516 Cell adhesion molecules and their ligands # KEGG_Pathway ko04390 Hippo signaling pathway # KEGG_Pathway ko04724 Glutamatergic synapse # KEGG_Pathway ko05016 Huntington's disease # KEGG_Pathway ko05030 Cocaine addiction # MIM 602887 gene # Organism DLG4_HUMAN Homo sapiens (Human) # PANTHER PTHR23119:SF33 PTHR23119:SF33 # PDB 1KEF NMR; -; A=62-154 # PDB 2MES NMR; -; B=1-71 # PDB 3I4W X-ray; 1.35 A; A/B/C/D=302-403 # PDB 3K82 X-ray; 1.40 A; A=305-402 # PDB 3ZRT X-ray; 3.40 A; A/B/C/D=61-249 # PDB 5JXB X-ray; 2.90 A; A/C=309-413 # PIR T09599 T09599 # PROSITE PS00856 GUANYLATE_KINASE_1 # PROSITE PS50002 SH3 # PROSITE PS50052 GUANYLATE_KINASE_2 # PROSITE PS50106 PDZ; 3 # PTM DLG4_HUMAN Palmitoylation of isoform 1 is required for targeting to postsynaptic density. {ECO 0000250}. # Pfam PF00018 SH3_1 # Pfam PF00595 PDZ; 3 # Pfam PF00625 Guanylate_kin # Pfam PF10600 PDZ_assoc # Pfam PF10608 MAGUK_N_PEST # Proteomes UP000005640 Chromosome 17 # Reactome R-HSA-399719 Trafficking of AMPA receptors # Reactome R-HSA-438066 Unblocking of NMDA receptor, glutamate binding and activation # Reactome R-HSA-442729 CREB phosphorylation through the activation of CaMKII # Reactome R-HSA-442982 Ras activation uopn Ca2+ infux through NMDA receptor # Reactome R-HSA-447038 NrCAM interactions # Reactome R-HSA-451308 Activation of Ca-permeable Kainate Receptor # Reactome R-HSA-5625900 RHO GTPases activate CIT # Reactome R-HSA-5673001 RAF/MAP kinase cascade # Reactome R-HSA-5682910 LGI-ADAM interactions # Reactome R-HSA-6794361 Interactions of neurexins and neuroligins at synapses # Reactome R-HSA-8849932 SALM protein interactions at the synapses # RecName DLG4_HUMAN Disks large homolog 4 # RefSeq NP_001122299 NM_001128827.2. [P78352-3] # RefSeq NP_001308004 NM_001321075.1. [P78352-1] # RefSeq NP_001356 NM_001365.4. [P78352-2] # SIMILARITY Belongs to the MAGUK family. {ECO 0000305}. # SIMILARITY Contains 1 SH3 domain. {ECO:0000255|PROSITE- ProRule PRU00192}. # SIMILARITY Contains 1 guanylate kinase-like domain. {ECO:0000255|PROSITE-ProRule PRU00100}. # SIMILARITY Contains 3 PDZ (DHR) domains. {ECO:0000255|PROSITE- ProRule PRU00143}. # SMART SM00072 GuKc # SMART SM00228 PDZ; 3 # SMART SM00326 SH3 # SMART SM01277 MAGUK_N_PEST # SUBCELLULAR LOCATION DLG4_HUMAN Cell membrane {ECO 0000269|PubMed 12151521}; Peripheral membrane protein {ECO 0000269|PubMed 12151521}. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO 0000269|PubMed 12151521}. Cell projection, axon {ECO 0000250|UniProtKB P31016}. Cell junction, synapse {ECO 0000269|PubMed 12151521}. Note=High levels in postsynaptic density of neurons in the forebrain. Also in presynaptic region of inhibitory synapses formed by cerebellar basket cells on axon hillocks of Purkinje cells. # SUBUNIT DLG4_HUMAN Interacts through its PDZ domains with ANO2 and NETO1. Interacts through its first two PDZ domains with GRIN2A, GRIN2B, GRIN2C, GRIN2D, ASIC3, certain splice forms of GRIN1, KCND2, CXADR, SYNGAP1, KCNA1, KCNA2, KCNA3, KCNA4, ERBB4, LRRC4; LRRC4B and SEMA4C. Interacts through its first PDZ domain with GRIK2, KCNA4 and CRIPT. Interacts through its second PDZ domain with the PDZ domain of NOS1 or the C-terminus of CAPON. Interacts through its third PDZ domain with NLGN1 and CRIPT, and probably with NLGN2 and NLGN3. Interacts through its guanylate kinase-like domain with DLGAP1/GKAP, DLGAP2, DLGAP3, DLGAP4, MAP1A, BEGAIN, SIPA1L1 and KIF13B. Isoform 2 interacts through an L27 domain with HGS/HRS and the first L27 domain of CASK. Interacts with ADR1B, ANKS1B and PRR7. May interact with HTR2A. Interacts with ADAM22, KLHL17 and LGI1. Interacts with FRMPD4 (via C-terminus). Interacts with LRFN1, LRFN2 and LRFN4, but not with LRFN3 nor LRFN5. Interacts (via N-terminal tandem pair of PDZ domains) with GPER1 (via C- terminus tail motif); the interaction is direct and induces the increase of GPER1 protein levels residing at the plasma membrane surface in a estradiol-independent manner. Interacts (via N- terminus tandem pair of PDZ domains) with NOS1 (via N-terminal domain). Interacts with SHANK3. Interacts with KCNJ4 (By similarity). Interacts with GPR85 (PubMed 25780553). {ECO 0000250|UniProtKB P31016, ECO 0000269|PubMed 10725395, ECO 0000269|PubMed 10859302, ECO 0000269|PubMed 12151521, ECO 0000269|PubMed 16630835, ECO 0000269|PubMed 19118189, ECO 0000269|PubMed 25780553, ECO 0000269|PubMed 7477295, ECO 0000269|PubMed 9278515}. # SUPFAM SSF50044 SSF50044 # SUPFAM SSF50156 SSF50156; 3 # SUPFAM SSF52540 SSF52540 # TCDB 8.A.24.1 the ezrin/radixin/moesin-binding phosphoprotein 50 (ebp50) family # TISSUE SPECIFICITY DLG4_HUMAN Brain. # UCSC uc002get human. [P78352-1] # eggNOG COG0194 LUCA # eggNOG KOG0708 Eukaryota BLAST swissprot:DLG4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:DLG4_HUMAN BioCyc ZFISH:ENSG00000132535-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000132535-MONOMER COXPRESdb 1742 http://coxpresdb.jp/data/gene/1742.shtml CleanEx HS_DLG4 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_DLG4 DIP DIP-30919N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-30919N DOI 10.1006/geno.1997.4848 http://dx.doi.org/10.1006/geno.1997.4848 DOI 10.1016/j.neuron.2006.04.005 http://dx.doi.org/10.1016/j.neuron.2006.04.005 DOI 10.1038/378085a0 http://dx.doi.org/10.1038/378085a0 DOI 10.1038/nature04689 http://dx.doi.org/10.1038/nature04689 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1046/j.1471-4159.1999.0732250.x http://dx.doi.org/10.1046/j.1471-4159.1999.0732250.x DOI 10.1073/pnas.97.7.3596 http://dx.doi.org/10.1073/pnas.97.7.3596 DOI 10.1074/jbc.M000715200 http://dx.doi.org/10.1074/jbc.M000715200 DOI 10.1074/jbc.M109453200 http://dx.doi.org/10.1074/jbc.M109453200 DOI 10.1126/science.277.5331.1511 http://dx.doi.org/10.1126/science.277.5331.1511 DOI 10.1186/s13229-015-0012-5 http://dx.doi.org/10.1186/s13229-015-0012-5 DOI 10.1523/JNEUROSCI.3112-08.2008 http://dx.doi.org/10.1523/JNEUROSCI.3112-08.2008 DrugBank DB00536 http://www.drugbank.ca/drugs/DB00536 EMBL AC120057 http://www.ebi.ac.uk/ena/data/view/AC120057 EMBL AF156495 http://www.ebi.ac.uk/ena/data/view/AF156495 EMBL AK293835 http://www.ebi.ac.uk/ena/data/view/AK293835 EMBL CH471108 http://www.ebi.ac.uk/ena/data/view/CH471108 EMBL U68138 http://www.ebi.ac.uk/ena/data/view/U68138 EMBL U83192 http://www.ebi.ac.uk/ena/data/view/U83192 Ensembl ENST00000302955 http://www.ensembl.org/id/ENST00000302955 Ensembl ENST00000399506 http://www.ensembl.org/id/ENST00000399506 Ensembl ENST00000399510 http://www.ensembl.org/id/ENST00000399510 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0008021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008021 GO_component GO:0014069 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014069 GO_component GO:0016323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016323 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0030666 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030666 GO_component GO:0030863 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030863 GO_component GO:0031234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031234 GO_component GO:0032281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032281 GO_component GO:0032839 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032839 GO_component GO:0043197 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043197 GO_component GO:0044224 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044224 GO_component GO:0044300 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044300 GO_component GO:0044306 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044306 GO_component GO:0044309 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044309 GO_component GO:0045202 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045202 GO_component GO:0045211 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045211 GO_component GO:0060076 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060076 GO_function GO:0004385 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004385 GO_function GO:0005088 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005088 GO_function GO:0008022 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008022 GO_function GO:0015276 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015276 GO_function GO:0019900 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019900 GO_function GO:0019903 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019903 GO_function GO:0030165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030165 GO_function GO:0031697 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031697 GO_function GO:0031748 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031748 GO_function GO:0031812 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031812 GO_function GO:0032403 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032403 GO_function GO:0033130 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033130 GO_function GO:0035255 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035255 GO_function GO:0097109 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097109 GO_function GO:0097110 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097110 GO_process GO:0000165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000165 GO_process GO:0002091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002091 GO_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GO_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GO_process GO:0007204 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007204 GO_process GO:0007268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007268 GO_process GO:0007399 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007399 GO_process GO:0007612 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007612 GO_process GO:0016188 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016188 GO_process GO:0035176 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035176 GO_process GO:0035418 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035418 GO_process GO:0035641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035641 GO_process GO:0045184 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045184 GO_process GO:0045197 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045197 GO_process GO:0048169 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048169 GO_process GO:0050806 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050806 GO_process GO:0050885 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050885 GO_process GO:0060997 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060997 GO_process GO:0071625 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071625 GO_process GO:0097113 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097113 GO_process GO:0097120 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097120 GO_process GO:2000310 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000310 GO_process GO:2000463 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000463 GO_process GO:2000821 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000821 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_component GO:0005856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005856 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0031410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0016301 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016301 GOslim_function GO:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006464 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006464 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0021700 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021700 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GOslim_process GO:0061024 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061024 Gene3D 2.30.42.10 http://www.cathdb.info/version/latest/superfamily/2.30.42.10 Gene3D 3.40.50.300 http://www.cathdb.info/version/latest/superfamily/3.40.50.300 GeneCards DLG4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=DLG4 GeneID 1742 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=1742 GeneTree ENSGT00760000118866 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118866 HGNC HGNC:2903 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:2903 HOGENOM HOG000232102 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000232102&db=HOGENOM6 HOVERGEN HBG107814 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG107814&db=HOVERGEN HPA CAB001999 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB001999 HPA CAB002000 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB002000 HPA HPA010122 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA010122 InParanoid P78352 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P78352 IntAct P78352 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P78352* InterPro IPR001452 http://www.ebi.ac.uk/interpro/entry/IPR001452 InterPro IPR001478 http://www.ebi.ac.uk/interpro/entry/IPR001478 InterPro IPR008144 http://www.ebi.ac.uk/interpro/entry/IPR008144 InterPro IPR008145 http://www.ebi.ac.uk/interpro/entry/IPR008145 InterPro IPR016313 http://www.ebi.ac.uk/interpro/entry/IPR016313 InterPro IPR019583 http://www.ebi.ac.uk/interpro/entry/IPR019583 InterPro IPR019590 http://www.ebi.ac.uk/interpro/entry/IPR019590 InterPro IPR020590 http://www.ebi.ac.uk/interpro/entry/IPR020590 InterPro IPR027417 http://www.ebi.ac.uk/interpro/entry/IPR027417 Jabion 1742 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=1742 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04516 http://www.genome.jp/dbget-bin/www_bget?ko04516 KEGG_Gene hsa:1742 http://www.genome.jp/dbget-bin/www_bget?hsa:1742 KEGG_Orthology KO:K11828 http://www.genome.jp/dbget-bin/www_bget?KO:K11828 KEGG_Pathway ko04390 http://www.genome.jp/kegg-bin/show_pathway?ko04390 KEGG_Pathway ko04724 http://www.genome.jp/kegg-bin/show_pathway?ko04724 KEGG_Pathway ko05016 http://www.genome.jp/kegg-bin/show_pathway?ko05016 KEGG_Pathway ko05030 http://www.genome.jp/kegg-bin/show_pathway?ko05030 MIM 602887 http://www.ncbi.nlm.nih.gov/omim/602887 MINT MINT-199061 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-199061 OMA HREPRRI http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=HREPRRI OrthoDB EOG091G0BB1 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0BB1 PANTHER PTHR23119:SF33 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR23119:SF33 PDB 1KEF http://www.ebi.ac.uk/pdbe-srv/view/entry/1KEF PDB 2MES http://www.ebi.ac.uk/pdbe-srv/view/entry/2MES PDB 3I4W http://www.ebi.ac.uk/pdbe-srv/view/entry/3I4W PDB 3K82 http://www.ebi.ac.uk/pdbe-srv/view/entry/3K82 PDB 3ZRT http://www.ebi.ac.uk/pdbe-srv/view/entry/3ZRT PDB 5JXB http://www.ebi.ac.uk/pdbe-srv/view/entry/5JXB PDBsum 1KEF http://www.ebi.ac.uk/pdbsum/1KEF PDBsum 2MES http://www.ebi.ac.uk/pdbsum/2MES PDBsum 3I4W http://www.ebi.ac.uk/pdbsum/3I4W PDBsum 3K82 http://www.ebi.ac.uk/pdbsum/3K82 PDBsum 3ZRT http://www.ebi.ac.uk/pdbsum/3ZRT PDBsum 5JXB http://www.ebi.ac.uk/pdbsum/5JXB PROSITE PS00856 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00856 PROSITE PS50002 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50002 PROSITE PS50052 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50052 PROSITE PS50106 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50106 PSORT swissprot:DLG4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:DLG4_HUMAN PSORT-B swissprot:DLG4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:DLG4_HUMAN PSORT2 swissprot:DLG4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:DLG4_HUMAN Pfam PF00018 http://pfam.xfam.org/family/PF00018 Pfam PF00595 http://pfam.xfam.org/family/PF00595 Pfam PF00625 http://pfam.xfam.org/family/PF00625 Pfam PF10600 http://pfam.xfam.org/family/PF10600 Pfam PF10608 http://pfam.xfam.org/family/PF10608 PharmGKB PA27359 http://www.pharmgkb.org/do/serve?objId=PA27359&objCls=Gene Phobius swissprot:DLG4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:DLG4_HUMAN PhylomeDB P78352 http://phylomedb.org/?seqid=P78352 ProteinModelPortal P78352 http://www.proteinmodelportal.org/query/uniprot/P78352 PubMed 10582582 http://www.ncbi.nlm.nih.gov/pubmed/10582582 PubMed 10725395 http://www.ncbi.nlm.nih.gov/pubmed/10725395 PubMed 10859302 http://www.ncbi.nlm.nih.gov/pubmed/10859302 PubMed 11744724 http://www.ncbi.nlm.nih.gov/pubmed/11744724 PubMed 12151521 http://www.ncbi.nlm.nih.gov/pubmed/12151521 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 16625196 http://www.ncbi.nlm.nih.gov/pubmed/16625196 PubMed 16630835 http://www.ncbi.nlm.nih.gov/pubmed/16630835 PubMed 19118189 http://www.ncbi.nlm.nih.gov/pubmed/19118189 PubMed 25780553 http://www.ncbi.nlm.nih.gov/pubmed/25780553 PubMed 7477295 http://www.ncbi.nlm.nih.gov/pubmed/7477295 PubMed 9278515 http://www.ncbi.nlm.nih.gov/pubmed/9278515 PubMed 9286702 http://www.ncbi.nlm.nih.gov/pubmed/9286702 Reactome R-HSA-399719 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-399719 Reactome R-HSA-438066 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-438066 Reactome R-HSA-442729 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-442729 Reactome R-HSA-442982 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-442982 Reactome R-HSA-447038 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-447038 Reactome R-HSA-451308 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-451308 Reactome R-HSA-5625900 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5625900 Reactome R-HSA-5673001 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5673001 Reactome R-HSA-5682910 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5682910 Reactome R-HSA-6794361 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6794361 Reactome R-HSA-8849932 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-8849932 RefSeq NP_001122299 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001122299 RefSeq NP_001308004 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001308004 RefSeq NP_001356 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001356 SMART SM00072 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00072 SMART SM00228 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00228 SMART SM00326 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00326 SMART SM01277 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM01277 SMR P78352 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P78352 STRING 9606.ENSP00000293813 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000293813&targetmode=cogs SUPFAM SSF50044 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF50044 SUPFAM SSF50156 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF50156 SUPFAM SSF52540 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52540 TCDB 8.A.24.1 http://www.tcdb.org/search/result.php?tc=8.A.24.1 UCSC uc002get http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002get&org=rat UniGene Hs.463928 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.463928 UniProtKB DLG4_HUMAN http://www.uniprot.org/uniprot/DLG4_HUMAN UniProtKB-AC P78352 http://www.uniprot.org/uniprot/P78352 charge swissprot:DLG4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:DLG4_HUMAN eggNOG COG0194 http://eggnogapi.embl.de/nog_data/html/tree/COG0194 eggNOG KOG0708 http://eggnogapi.embl.de/nog_data/html/tree/KOG0708 epestfind swissprot:DLG4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:DLG4_HUMAN garnier swissprot:DLG4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:DLG4_HUMAN helixturnhelix swissprot:DLG4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:DLG4_HUMAN hmoment swissprot:DLG4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:DLG4_HUMAN iep swissprot:DLG4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:DLG4_HUMAN inforesidue swissprot:DLG4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:DLG4_HUMAN neXtProt NX_P78352 http://www.nextprot.org/db/entry/NX_P78352 octanol swissprot:DLG4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:DLG4_HUMAN pepcoil swissprot:DLG4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:DLG4_HUMAN pepdigest swissprot:DLG4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:DLG4_HUMAN pepinfo swissprot:DLG4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:DLG4_HUMAN pepnet swissprot:DLG4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:DLG4_HUMAN pepstats swissprot:DLG4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:DLG4_HUMAN pepwheel swissprot:DLG4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:DLG4_HUMAN pepwindow swissprot:DLG4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:DLG4_HUMAN sigcleave swissprot:DLG4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:DLG4_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS KCAB2_HUMAN Event=Alternative splicing; Named isoforms=5; Name=1; Synonyms=KvB2.1; IsoId=Q13303-1; Sequence=Displayed; Name=2; Synonyms=KvB2.2; IsoId=Q13303-2; Sequence=VSP_001054; Name=3; IsoId=Q13303-3; Sequence=VSP_041189, VSP_041190; Name=4; IsoId=Q13303-4; Sequence=VSP_044311; Name=5; IsoId=Q13303-5; Sequence=VSP_057282; Note=No experimental confirmation available.; # AltName KCAB2_HUMAN K(+) channel subunit beta-2 # AltName KCAB2_HUMAN Kv-beta-2 # BioGrid 114086 36 # CCDS CCDS55 -. [Q13303-1] # CCDS CCDS55570 -. [Q13303-3] # CCDS CCDS55571 -. [Q13303-4] # CCDS CCDS56 -. [Q13303-2] # CDD cd06660 Aldo_ket_red # ChiTaRS KCNAB2 human # DOMAIN KCAB2_HUMAN In contrast to KCNAB1, the shorter N-terminal domain of KCNAB2 cannot mediate closure of delayed rectifier potassium channels by physically obstructing the pore. {ECO 0000269|PubMed 7649300}. # Ensembl ENST00000164247 ENSP00000164247; ENSG00000069424. [Q13303-1] # Ensembl ENST00000341524 ENSP00000340824; ENSG00000069424. [Q13303-1] # Ensembl ENST00000352527 ENSP00000318772; ENSG00000069424. [Q13303-2] # Ensembl ENST00000378083 ENSP00000367323; ENSG00000069424. [Q13303-3] # Ensembl ENST00000378092 ENSP00000367332; ENSG00000069424. [Q13303-2] # Ensembl ENST00000378097 ENSP00000367337; ENSG00000069424. [Q13303-1] # Ensembl ENST00000458166 ENSP00000396167; ENSG00000069424. [Q13303-4] # Ensembl ENST00000602612 ENSP00000473602; ENSG00000069424. [Q13303-5] # ExpressionAtlas Q13303 baseline and differential # FUNCTION KCAB2_HUMAN Cytoplasmic potassium channel subunit that modulates the characteristics of the channel-forming alpha-subunits (PubMed 7649300, PubMed 11825900). Contributes to the regulation of nerve signaling, and prevents neuronal hyperexcitability (By similarity). Promotes expression of the pore-forming alpha subunits at the cell membrane, and thereby increases channel activity (By similarity). Promotes potassium channel closure via a mechanism that does not involve physical obstruction of the channel pore (PubMed 7649300, PubMed 11825900). Promotes KCNA4 channel closure (PubMed 7649300, PubMed 11825900). Modulates the functional properties of KCNA5 (By similarity). Enhances KCNB2 channel activity (By similarity). Binds NADPH and has NADPH- dependent aldoketoreductase activity (By similarity). Has broad substrate specificity and can catalyze the reduction of methylglyoxal, 9,10-phenanthrenequinone, prostaglandin J2, 4- nitrobenzaldehyde, 4-nitroacetophenone and 4-oxo-trans-2-nonenal (in vitro) (By similarity). {ECO 0000250|UniProtKB P62482, ECO 0000250|UniProtKB P62483, ECO 0000269|PubMed 11825900, ECO 0000269|PubMed 7649300}. # GO_component GO:0005829 cytosol; ISS:UniProtKB. # GO_component GO:0005856 cytoskeleton; IEA:UniProtKB-SubCell. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0008076 voltage-gated potassium channel complex; IDA:UniProtKB. # GO_component GO:0014069 postsynaptic density; IEA:Ensembl. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0031234 extrinsic component of cytoplasmic side of plasma membrane; ISS:UniProtKB. # GO_component GO:0043679 axon terminus; IEA:Ensembl. # GO_component GO:0044224 juxtaparanode region of axon; IDA:UniProtKB. # GO_component GO:1990031 pinceau fiber; ISS:UniProtKB. # GO_function GO:0004033 aldo-keto reductase (NADP) activity; ISS:UniProtKB. # GO_function GO:0005249 voltage-gated potassium channel activity; IEA:InterPro. # GO_function GO:0015459 potassium channel regulator activity; IDA:UniProtKB. # GO_process GO:0002244 hematopoietic progenitor cell differentiation; IEA:Ensembl. # GO_process GO:0050905 neuromuscular process; IEA:Ensembl. # GO_process GO:0055114 oxidation-reduction process; ISS:UniProtKB. # GO_process GO:0070995 NADPH oxidation; ISS:UniProtKB. # GO_process GO:1901379 regulation of potassium ion transmembrane transport; IDA:UniProtKB. # GO_process GO:2000008 regulation of protein localization to cell surface; ISS:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005829 cytosol # GOslim_component GO:0005856 cytoskeleton # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0016491 oxidoreductase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0008150 biological_process # GOslim_process GO:0030154 cell differentiation # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0044281 small molecule metabolic process # GOslim_process GO:0050877 neurological system process # GOslim_process GO:0051186 cofactor metabolic process # Gene3D 3.20.20.100 -; 1. # Genevisible Q13303 HS # HGNC HGNC:6229 KCNAB2 # IntAct Q13303 13 # InterPro IPR001395 Aldo/ket_red/Kv-b # InterPro IPR005399 K_chnl_volt-dep_bsu_KCNAB-rel # InterPro IPR005401 K_chnl_volt-dep_bsu_KCNAB2 # InterPro IPR005983 K_chnl_volt-dep_bsu_KCNAB # InterPro IPR023210 NADP_OxRdtase_dom # KEGG_Brite ko04040 Ion channels # MIM 601142 gene # Organism KCAB2_HUMAN Homo sapiens (Human) # Orphanet 1606 1p36 deletion syndrome # PANTHER PTHR11732 PTHR11732 # PDB 1ZSX X-ray; 1.90 A; A=39-360 # PIR S66502 S66502 # PRINTS PR01577 KCNABCHANNEL # PRINTS PR01579 KCNAB2CHANEL # PTM KCAB2_HUMAN Phosphorylated by PRKCZ; may be regulated by incorporation in a complex composed of PRKCZ and SQSTM1. {ECO 0000250|UniProtKB P62483}. # Pfam PF00248 Aldo_ket_red # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-1296072 Voltage gated Potassium channels # Reactome R-HSA-6798695 Neutrophil degranulation # RecName KCAB2_HUMAN Voltage-gated potassium channel subunit beta-2 # RefSeq NP_001186789 NM_001199860.1. [Q13303-1] # RefSeq NP_001186790 NM_001199861.1. [Q13303-1] # RefSeq NP_001186791 NM_001199862.1. [Q13303-3] # RefSeq NP_001186792 NM_001199863.1. [Q13303-4] # RefSeq NP_003627 NM_003636.3. [Q13303-1] # RefSeq NP_742128 NM_172130.2. [Q13303-2] # RefSeq XP_005263571 XM_005263514.2. [Q13303-2] # RefSeq XP_011540623 XM_011542321.2. [Q13303-5] # RefSeq XP_011540624 XM_011542322.2. [Q13303-5] # SIMILARITY Belongs to the shaker potassium channel beta subunit family. {ECO 0000305}. # SUBCELLULAR LOCATION KCAB2_HUMAN Cytoplasm {ECO 0000250|UniProtKB P62483}. Membrane {ECO 0000269|PubMed 11086297, ECO 0000269|PubMed 21357749}; Peripheral membrane protein {ECO 0000305}; Cytoplasmic side {ECO 0000305}. Cell membrane {ECO 0000250|UniProtKB P62483}; Peripheral membrane protein {ECO 0000305}; Cytoplasmic side {ECO 0000305}. Cell projection, axon {ECO 0000269|PubMed 11086297}. Cell junction, synapse, synaptosome {ECO 0000269|PubMed 21357749}. Cytoplasm, cytoskeleton {ECO 0000250|UniProtKB P62483}. Note=Recruited to the cytoplasmic side of the cell membrane via its interaction with pore-forming potassium channel alpha subunits. Associates with microtubules when unphosphorylated. {ECO 0000250|UniProtKB P62483}. # SUBUNIT KCAB2_HUMAN Homotetramer (By similarity). Interaction with tetrameric potassium channel alpha subunits gives rise to a heterooctamer (By similarity). Identified in potassium channel complexes containing KCNA1, KCNA2, KCNA4, KCNA5, KCNA6, KCNAB1 and KCNAB2 (By similarity). Interacts with KCNA1 (PubMed 11086297). Interacts with KCNA2 (PubMed 11086297). Interacts with KCNA4 and KCND3 (By similarity). Interacts with KCNA5 (By similarity). Interacts with KCNB2 (By similarity). Interacts (in unphosphorylated form) with MAPRE1 (By similarity). Forms a ternary complex with SQSTM1 and PRKCZ (By similarity). {ECO 0000250|UniProtKB P62482, ECO 0000250|UniProtKB P62483, ECO 0000269|PubMed 11086297}. # SUPFAM SSF51430 SSF51430 # TIGRFAMs TIGR01293 Kv_beta # TISSUE SPECIFICITY KCAB2_HUMAN Detected in myelinated nerve fibers in the spinal cord, in the juxtaparanodal region of the nodes of Ranvier, but also in the paranodal region (PubMed 11086297). Detected in hippocampus (at protein level) (PubMed 21357749). Detected in hippocampus (PubMed 7649300). {ECO 0000269|PubMed 11086297, ECO 0000269|PubMed 21357749, ECO 0000269|PubMed 7649300}. # UCSC uc001alv human. [Q13303-1] # eggNOG COG0667 LUCA # eggNOG KOG1575 Eukaryota BLAST swissprot:KCAB2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCAB2_HUMAN BioCyc ZFISH:ENSG00000069424-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000069424-MONOMER COXPRESdb 8514 http://coxpresdb.jp/data/gene/8514.shtml CleanEx HS_KCNAB2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNAB2 CleanEx HS_KCNK2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNK2 DOI 10.1002/1096-9861(20000101)429:1<166::AID-CNE13>3.0.CO http://dx.doi.org/10.1002/1096-9861(20000101)429:1<166::AID-CNE13>3.0.CO DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1016/0014-5793(95)00785-8 http://dx.doi.org/10.1016/0014-5793(95)00785-8 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.1210303109 http://dx.doi.org/10.1073/pnas.1210303109 DOI 10.1074/jbc.M111465200 http://dx.doi.org/10.1074/jbc.M111465200 DOI 10.1074/mcp.O113.027870 http://dx.doi.org/10.1074/mcp.O113.027870 DOI 10.1083/jcb.201007113 http://dx.doi.org/10.1083/jcb.201007113 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1175371 http://dx.doi.org/10.1126/science.1175371 DOI 10.1126/scisignal.2000007 http://dx.doi.org/10.1126/scisignal.2000007 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EC_number EC:1.1.1.- {ECO:0000250|UniProtKB:P62483} http://www.genome.jp/dbget-bin/www_bget?EC:1.1.1.- {ECO:0000250|UniProtKB:P62483} EMBL AF029749 http://www.ebi.ac.uk/ena/data/view/AF029749 EMBL AF044253 http://www.ebi.ac.uk/ena/data/view/AF044253 EMBL AK124696 http://www.ebi.ac.uk/ena/data/view/AK124696 EMBL AK131252 http://www.ebi.ac.uk/ena/data/view/AK131252 EMBL AK289819 http://www.ebi.ac.uk/ena/data/view/AK289819 EMBL AK315858 http://www.ebi.ac.uk/ena/data/view/AK315858 EMBL AL035406 http://www.ebi.ac.uk/ena/data/view/AL035406 EMBL AL035406 http://www.ebi.ac.uk/ena/data/view/AL035406 EMBL BC110351 http://www.ebi.ac.uk/ena/data/view/BC110351 EMBL BC126424 http://www.ebi.ac.uk/ena/data/view/BC126424 EMBL BC130413 http://www.ebi.ac.uk/ena/data/view/BC130413 EMBL U33429 http://www.ebi.ac.uk/ena/data/view/U33429 ENZYME 1.1.1.- {ECO:0000250|UniProtKB:P62483} http://enzyme.expasy.org/EC/1.1.1.- {ECO:0000250|UniProtKB:P62483} Ensembl ENST00000164247 http://www.ensembl.org/id/ENST00000164247 Ensembl ENST00000341524 http://www.ensembl.org/id/ENST00000341524 Ensembl ENST00000352527 http://www.ensembl.org/id/ENST00000352527 Ensembl ENST00000378083 http://www.ensembl.org/id/ENST00000378083 Ensembl ENST00000378092 http://www.ensembl.org/id/ENST00000378092 Ensembl ENST00000378097 http://www.ensembl.org/id/ENST00000378097 Ensembl ENST00000458166 http://www.ensembl.org/id/ENST00000458166 Ensembl ENST00000602612 http://www.ensembl.org/id/ENST00000602612 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0005856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005856 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0008076 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008076 GO_component GO:0014069 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014069 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0031234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031234 GO_component GO:0043679 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043679 GO_component GO:0044224 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044224 GO_component GO:1990031 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1990031 GO_function GO:0004033 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004033 GO_function GO:0005249 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005249 GO_function GO:0015459 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015459 GO_process GO:0002244 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002244 GO_process GO:0050905 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050905 GO_process GO:0055114 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055114 GO_process GO:0070995 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070995 GO_process GO:1901379 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1901379 GO_process GO:2000008 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000008 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0005856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005856 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0016491 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016491 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0030154 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030154 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GOslim_process GO:0051186 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051186 Gene3D 3.20.20.100 http://www.cathdb.info/version/latest/superfamily/3.20.20.100 GeneCards KCNAB2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNAB2 GeneID 8514 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=8514 GeneTree ENSGT00550000074567 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074567 HGNC HGNC:6229 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6229 HOGENOM HOG000250283 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000250283&db=HOGENOM6 HOVERGEN HBG052216 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052216&db=HOVERGEN HPA CAB001975 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB001975 HPA HPA030185 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA030185 InParanoid Q13303 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q13303 IntAct Q13303 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q13303* IntEnz 1.1.1.- {ECO:0000250|UniProtKB:P62483} http://www.ebi.ac.uk/intenz/query?cmd=Search&q=1.1.1.- {ECO:0000250|UniProtKB:P62483} InterPro IPR001395 http://www.ebi.ac.uk/interpro/entry/IPR001395 InterPro IPR005399 http://www.ebi.ac.uk/interpro/entry/IPR005399 InterPro IPR005401 http://www.ebi.ac.uk/interpro/entry/IPR005401 InterPro IPR005983 http://www.ebi.ac.uk/interpro/entry/IPR005983 InterPro IPR023210 http://www.ebi.ac.uk/interpro/entry/IPR023210 Jabion 8514 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=8514 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:8514 http://www.genome.jp/dbget-bin/www_bget?hsa:8514 KEGG_Orthology KO:K04883 http://www.genome.jp/dbget-bin/www_bget?KO:K04883 MIM 601142 http://www.ncbi.nlm.nih.gov/omim/601142 MINT MINT-2865320 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-2865320 OMA CINNLEF http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=CINNLEF Orphanet 1606 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1606 OrthoDB EOG091G0KDN http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0KDN PANTHER PTHR11732 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11732 PDB 1ZSX http://www.ebi.ac.uk/pdbe-srv/view/entry/1ZSX PDBsum 1ZSX http://www.ebi.ac.uk/pdbsum/1ZSX PRINTS PR01577 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01577 PRINTS PR01579 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01579 PSORT swissprot:KCAB2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCAB2_HUMAN PSORT-B swissprot:KCAB2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCAB2_HUMAN PSORT2 swissprot:KCAB2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCAB2_HUMAN Pfam PF00248 http://pfam.xfam.org/family/PF00248 PharmGKB PA373 http://www.pharmgkb.org/do/serve?objId=PA373&objCls=Gene Phobius swissprot:KCAB2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCAB2_HUMAN PhylomeDB Q13303 http://phylomedb.org/?seqid=Q13303 ProteinModelPortal Q13303 http://www.proteinmodelportal.org/query/uniprot/Q13303 PubMed 11086297 http://www.ncbi.nlm.nih.gov/pubmed/11086297 PubMed 11825900 http://www.ncbi.nlm.nih.gov/pubmed/11825900 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 19608861 http://www.ncbi.nlm.nih.gov/pubmed/19608861 PubMed 19690332 http://www.ncbi.nlm.nih.gov/pubmed/19690332 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 21357749 http://www.ncbi.nlm.nih.gov/pubmed/21357749 PubMed 22814378 http://www.ncbi.nlm.nih.gov/pubmed/22814378 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 24129315 http://www.ncbi.nlm.nih.gov/pubmed/24129315 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 7649300 http://www.ncbi.nlm.nih.gov/pubmed/7649300 Reactome R-HSA-1296072 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1296072 Reactome R-HSA-6798695 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6798695 RefSeq NP_001186789 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001186789 RefSeq NP_001186790 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001186790 RefSeq NP_001186791 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001186791 RefSeq NP_001186792 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001186792 RefSeq NP_003627 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_003627 RefSeq NP_742128 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_742128 RefSeq XP_005263571 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005263571 RefSeq XP_011540623 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011540623 RefSeq XP_011540624 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011540624 SMR Q13303 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q13303 STRING 9606.ENSP00000367323 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000367323&targetmode=cogs SUPFAM SSF51430 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF51430 TIGRFAMs TIGR01293 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01293 UCSC uc001alv http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001alv&org=rat UniGene Hs.440497 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.440497 UniGene Hs.735032 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.735032 UniProtKB KCAB2_HUMAN http://www.uniprot.org/uniprot/KCAB2_HUMAN UniProtKB-AC Q13303 http://www.uniprot.org/uniprot/Q13303 charge swissprot:KCAB2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCAB2_HUMAN eggNOG COG0667 http://eggnogapi.embl.de/nog_data/html/tree/COG0667 eggNOG KOG1575 http://eggnogapi.embl.de/nog_data/html/tree/KOG1575 epestfind swissprot:KCAB2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCAB2_HUMAN garnier swissprot:KCAB2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCAB2_HUMAN helixturnhelix swissprot:KCAB2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCAB2_HUMAN hmoment swissprot:KCAB2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCAB2_HUMAN iep swissprot:KCAB2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCAB2_HUMAN inforesidue swissprot:KCAB2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCAB2_HUMAN neXtProt NX_Q13303 http://www.nextprot.org/db/entry/NX_Q13303 octanol swissprot:KCAB2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCAB2_HUMAN pepcoil swissprot:KCAB2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCAB2_HUMAN pepdigest swissprot:KCAB2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCAB2_HUMAN pepinfo swissprot:KCAB2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCAB2_HUMAN pepnet swissprot:KCAB2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCAB2_HUMAN pepstats swissprot:KCAB2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCAB2_HUMAN pepwheel swissprot:KCAB2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCAB2_HUMAN pepwindow swissprot:KCAB2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCAB2_HUMAN sigcleave swissprot:KCAB2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCAB2_HUMAN ## Database ID URL or Descriptions # AltName KCNS2_HUMAN Delayed-rectifier K(+) channel alpha subunit 2 # AltName KCNS2_HUMAN Voltage-gated potassium channel subunit Kv9.2 # DOMAIN KCNS2_HUMAN The transmembrane segment S4 functions as voltage-sensor and is characterized by a series of positively charged amino acids at every third position. Channel opening and closing is effected by a conformation change that affects the position and orientation of the voltage-sensor paddle formed by S3 and S4 within the membrane. A transmembrane electric field that is positive inside would push the positively charged S4 segment outwards, thereby opening the pore, while a field that is negative inside would pull the S4 segment inwards and close the pore. Changes in the position and orientation of S4 are then transmitted to the activation gate formed by the inner helix bundle via the S4-S5 linker region. {ECO 0000250|UniProtKB P63142}. # Ensembl ENST00000287042 ENSP00000287042; ENSG00000156486 # Ensembl ENST00000521839 ENSP00000430712; ENSG00000156486 # FUNCTION KCNS2_HUMAN Potassium channel subunit that does not form functional channels by itself. Can form functional heterotetrameric channels with KCNB1 and KCNB2; modulates the delayed rectifier voltage- gated potassium channel activation and deactivation rates of KCNB1 and KCNB2. {ECO 0000250|UniProtKB O35174}. # GO_component GO:0005886 plasma membrane; ISS:UniProtKB. # GO_component GO:0008076 voltage-gated potassium channel complex; IEA:Ensembl. # GO_component GO:0016021 integral component of membrane; IBA:GO_Central. # GO_component GO:0048471 perinuclear region of cytoplasm; ISS:UniProtKB. # GO_function GO:0005251 delayed rectifier potassium channel activity; IBA:GO_Central. # GO_process GO:0006813 potassium ion transport; ISS:UniProtKB. # GO_process GO:0051260 protein homooligomerization; IEA:InterPro. # GO_process GO:1902259 regulation of delayed rectifier potassium channel activity; ISS:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # Gene3D 1.20.120.350 -; 1. # Genevisible Q9ULS6 HS # HGNC HGNC:6301 KCNS2 # INTERACTION KCNS2_HUMAN Q969F0 FATE1; NbExp=5; IntAct=EBI-10323864, EBI-743099; # IntAct Q9ULS6 3 # InterPro IPR000210 BTB/POZ_dom # InterPro IPR003131 T1-type_BTB # InterPro IPR003968 K_chnl_volt-dep_Kv # InterPro IPR003971 K_chnl_volt-dep_Kv9 # InterPro IPR005821 Ion_trans_dom # InterPro IPR011333 SKP1/BTB/POZ # InterPro IPR027359 Channel_four-helix_dom # InterPro IPR028325 VG_K_chnl # KEGG_Brite ko04040 Ion channels # MIM 602906 gene # Organism KCNS2_HUMAN Homo sapiens (Human) # PRINTS PR00169 KCHANNEL # PRINTS PR01491 KVCHANNEL # PRINTS PR01494 KV9CHANNEL # Pfam PF00520 Ion_trans # Pfam PF02214 BTB_2 # Proteomes UP000005640 Chromosome 8 # Reactome R-HSA-1296072 Voltage gated Potassium channels # RecName KCNS2_HUMAN Potassium voltage-gated channel subfamily S member 2 # RefSeq NP_065748 NM_020697.3 # SEQUENCE CAUTION Sequence=BAA86458.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the potassium channel family. S (TC 1.A.1.2) subfamily. Kv9.2/KCNS2 sub-subfamily. {ECO 0000305}. # SMART SM00225 BTB # SUBCELLULAR LOCATION KCNS2_HUMAN Cell membrane {ECO 0000250|UniProtKB O35174}; Multi-pass membrane protein {ECO 0000250|UniProtKB O35174}. Note=May not reach the plasma membrane but remain in an intracellular compartment in the absence of KCNB1 or KCNB2. {ECO 0000250|UniProtKB O35174}. # SUBUNIT Heterotetramer with KCNB1 and KCNB2. Does not form homomultimers. {ECO:0000250|UniProtKB O35174}. # SUPFAM SSF54695 SSF54695 # TCDB 1.A.1.2.16 the voltage-gated ion channel (vic) superfamily # UCSC uc003yin human # eggNOG COG1226 LUCA # eggNOG KOG3713 Eukaryota BLAST swissprot:KCNS2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCNS2_HUMAN BioCyc ZFISH:ENSG00000156486-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000156486-MONOMER COXPRESdb 3788 http://coxpresdb.jp/data/gene/3788.shtml CleanEx HS_KCNS2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNS2 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1093/dnares/6.5.329 http://dx.doi.org/10.1093/dnares/6.5.329 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AB032970 http://www.ebi.ac.uk/ena/data/view/AB032970 EMBL AK293096 http://www.ebi.ac.uk/ena/data/view/AK293096 EMBL BC027932 http://www.ebi.ac.uk/ena/data/view/BC027932 EMBL BC034778 http://www.ebi.ac.uk/ena/data/view/BC034778 EMBL CH471060 http://www.ebi.ac.uk/ena/data/view/CH471060 Ensembl ENST00000287042 http://www.ensembl.org/id/ENST00000287042 Ensembl ENST00000521839 http://www.ensembl.org/id/ENST00000521839 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0008076 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008076 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0048471 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048471 GO_function GO:0005251 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005251 GO_process GO:0006813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006813 GO_process GO:0051260 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051260 GO_process GO:1902259 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902259 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 Gene3D 1.20.120.350 http://www.cathdb.info/version/latest/superfamily/1.20.120.350 GeneCards KCNS2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNS2 GeneID 3788 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=3788 GeneTree ENSGT00760000118981 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118981 HGNC HGNC:6301 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6301 HOGENOM HOG000231016 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231016&db=HOGENOM6 HOVERGEN HBG052230 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052230&db=HOVERGEN HPA HPA051417 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA051417 InParanoid Q9ULS6 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9ULS6 IntAct Q9ULS6 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9ULS6* InterPro IPR000210 http://www.ebi.ac.uk/interpro/entry/IPR000210 InterPro IPR003131 http://www.ebi.ac.uk/interpro/entry/IPR003131 InterPro IPR003968 http://www.ebi.ac.uk/interpro/entry/IPR003968 InterPro IPR003971 http://www.ebi.ac.uk/interpro/entry/IPR003971 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR011333 http://www.ebi.ac.uk/interpro/entry/IPR011333 InterPro IPR027359 http://www.ebi.ac.uk/interpro/entry/IPR027359 InterPro IPR028325 http://www.ebi.ac.uk/interpro/entry/IPR028325 Jabion 3788 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=3788 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:3788 http://www.genome.jp/dbget-bin/www_bget?hsa:3788 KEGG_Orthology KO:K04932 http://www.genome.jp/dbget-bin/www_bget?KO:K04932 MIM 602906 http://www.ncbi.nlm.nih.gov/omim/602906 OMA AQREFYF http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=AQREFYF OrthoDB EOG091G0FP3 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0FP3 PRINTS PR00169 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00169 PRINTS PR01491 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01491 PRINTS PR01494 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01494 PSORT swissprot:KCNS2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCNS2_HUMAN PSORT-B swissprot:KCNS2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCNS2_HUMAN PSORT2 swissprot:KCNS2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCNS2_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF02214 http://pfam.xfam.org/family/PF02214 PharmGKB PA30079 http://www.pharmgkb.org/do/serve?objId=PA30079&objCls=Gene Phobius swissprot:KCNS2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCNS2_HUMAN PhylomeDB Q9ULS6 http://phylomedb.org/?seqid=Q9ULS6 ProteinModelPortal Q9ULS6 http://www.proteinmodelportal.org/query/uniprot/Q9ULS6 PubMed 10574461 http://www.ncbi.nlm.nih.gov/pubmed/10574461 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 Reactome R-HSA-1296072 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1296072 RefSeq NP_065748 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_065748 SMART SM00225 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00225 SMR Q9ULS6 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9ULS6 STRING 9606.ENSP00000287042 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000287042&targetmode=cogs SUPFAM SSF54695 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF54695 TCDB 1.A.1.2.16 http://www.tcdb.org/search/result.php?tc=1.A.1.2.16 UCSC uc003yin http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003yin&org=rat UniGene Hs.388045 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.388045 UniProtKB KCNS2_HUMAN http://www.uniprot.org/uniprot/KCNS2_HUMAN UniProtKB-AC Q9ULS6 http://www.uniprot.org/uniprot/Q9ULS6 charge swissprot:KCNS2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCNS2_HUMAN eggNOG COG1226 http://eggnogapi.embl.de/nog_data/html/tree/COG1226 eggNOG KOG3713 http://eggnogapi.embl.de/nog_data/html/tree/KOG3713 epestfind swissprot:KCNS2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCNS2_HUMAN garnier swissprot:KCNS2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCNS2_HUMAN helixturnhelix swissprot:KCNS2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCNS2_HUMAN hmoment swissprot:KCNS2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCNS2_HUMAN iep swissprot:KCNS2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCNS2_HUMAN inforesidue swissprot:KCNS2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCNS2_HUMAN neXtProt NX_Q9ULS6 http://www.nextprot.org/db/entry/NX_Q9ULS6 octanol swissprot:KCNS2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCNS2_HUMAN pepcoil swissprot:KCNS2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCNS2_HUMAN pepdigest swissprot:KCNS2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCNS2_HUMAN pepinfo swissprot:KCNS2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCNS2_HUMAN pepnet swissprot:KCNS2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCNS2_HUMAN pepstats swissprot:KCNS2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCNS2_HUMAN pepwheel swissprot:KCNS2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCNS2_HUMAN pepwindow swissprot:KCNS2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCNS2_HUMAN sigcleave swissprot:KCNS2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCNS2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS PCYOX_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9UHG3-1; Sequence=Displayed; Name=2; IsoId=Q9UHG3-2; Sequence=VSP_056701; Note=No experimental confirmation available.; # AltName PCYOX_HUMAN Prenylcysteine lyase # BRENDA 1.8.3 2681 # BioGrid 119547 16 # CATALYTIC ACTIVITY PCYOX_HUMAN An S-prenyl-L-cysteine + O(2) + H(2)O = a prenal + L-cysteine + H(2)O(2). # CAUTION Was originally thought to be a lyase and was therefore termed prenylcysteine lyase. {ECO:0000305|PubMed 10585463}. # CCDS CCDS1902 -. [Q9UHG3-1] # COFACTOR Name=FAD; Xref=ChEBI:CHEBI 57692; # ChiTaRS PCYOX1 human # Ensembl ENST00000433351 ENSP00000387654; ENSG00000116005. [Q9UHG3-1] # ExpressionAtlas Q9UHG3 baseline and differential # FUNCTION PCYOX_HUMAN Involved in the degradation of prenylated proteins. Cleaves the thioether bond of prenyl-L-cysteines, such as farnesylcysteine and geranylgeranylcysteine. # GO_component GO:0005764 lysosome; IDA:BHF-UCL. # GO_component GO:0005774 vacuolar membrane; IBA:GO_Central. # GO_component GO:0005886 plasma membrane; IEA:Ensembl. # GO_component GO:0034361 very-low-density lipoprotein particle; IDA:BHF-UCL. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0001735 prenylcysteine oxidase activity; IDA:BHF-UCL. # GO_function GO:0008555 chloride-transporting ATPase activity; IEA:Ensembl. # GO_process GO:0030327 prenylated protein catabolic process; NAS:UniProtKB. # GO_process GO:0030328 prenylcysteine catabolic process; IBA:GO_Central. # GO_process GO:0030329 prenylcysteine metabolic process; NAS:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005764 lysosome # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0016491 oxidoreductase activity # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006520 cellular amino acid metabolic process # GOslim_process GO:0006790 sulfur compound metabolic process # GOslim_process GO:0009056 catabolic process # Gene3D 3.50.50.60 -; 2. # Genevisible Q9UHG3 HS # HGNC HGNC:20588 PCYOX1 # IntAct Q9UHG3 4 # InterPro IPR010795 Prenylcys_lyase # InterPro IPR017046 Prenylcysteine_Oxase # InterPro IPR023753 FAD/NAD-binding_dom # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko01000 Enzymes # KEGG_Pathway ko00900 Terpenoid backbone biosynthesis # MIM 610995 gene # Organism PCYOX_HUMAN Homo sapiens (Human) # PANTHER PTHR15944 PTHR15944 # PIRSF PIRSF036292 Prenylcysteine_oxidase # PTM PCYOX_HUMAN The protein is glycosylated at one or more potential N- glycosylation sites. {ECO 0000269|PubMed 16335952, ECO 0000269|PubMed 19159218}. # Pfam PF07156 Prenylcys_lyase # Proteomes UP000005640 Chromosome 2 # RecName PCYOX_HUMAN Prenylcysteine oxidase 1 # RefSeq NP_057381 NM_016297.3. [Q9UHG3-1] # SEQUENCE CAUTION Sequence=BAA74931.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the prenylcysteine oxidase family. {ECO 0000305}. # SUBCELLULAR LOCATION PCYOX_HUMAN Lysosome. # SUPFAM SSF51905 SSF51905 # TISSUE SPECIFICITY PCYOX_HUMAN Ubiquitous. # TopDownProteomics Q9UHG3-1 -. [Q9UHG3-1] # UCSC uc002sgn human. [Q9UHG3-1] # eggNOG ENOG410IE2Q Eukaryota # eggNOG ENOG410Y3UN LUCA BLAST swissprot:PCYOX_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:PCYOX_HUMAN BioCyc ZFISH:HS03967-MONOMER http://biocyc.org/getid?id=ZFISH:HS03967-MONOMER COXPRESdb 51449 http://coxpresdb.jp/data/gene/51449.shtml CleanEx HS_PCYOX1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_PCYOX1 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/pr0502065 http://dx.doi.org/10.1021/pr0502065 DOI 10.1021/pr8008012 http://dx.doi.org/10.1021/pr8008012 DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.274.50.35802 http://dx.doi.org/10.1074/jbc.274.50.35802 DOI 10.1093/dnares/5.6.355 http://dx.doi.org/10.1093/dnares/5.6.355 DOI 10.1101/gr.1293003 http://dx.doi.org/10.1101/gr.1293003 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EC_number EC:1.8.3.5 http://www.genome.jp/dbget-bin/www_bget?EC:1.8.3.5 EMBL AB020715 http://www.ebi.ac.uk/ena/data/view/AB020715 EMBL AC016700 http://www.ebi.ac.uk/ena/data/view/AC016700 EMBL AC079338 http://www.ebi.ac.uk/ena/data/view/AC079338 EMBL AF181490 http://www.ebi.ac.uk/ena/data/view/AF181490 EMBL AK314453 http://www.ebi.ac.uk/ena/data/view/AK314453 EMBL AK316013 http://www.ebi.ac.uk/ena/data/view/AK316013 EMBL AY359063 http://www.ebi.ac.uk/ena/data/view/AY359063 EMBL BC007029 http://www.ebi.ac.uk/ena/data/view/BC007029 EMBL BC033815 http://www.ebi.ac.uk/ena/data/view/BC033815 EMBL BC051891 http://www.ebi.ac.uk/ena/data/view/BC051891 EMBL CH471053 http://www.ebi.ac.uk/ena/data/view/CH471053 ENZYME 1.8.3.5 http://enzyme.expasy.org/EC/1.8.3.5 Ensembl ENST00000433351 http://www.ensembl.org/id/ENST00000433351 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005764 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005764 GO_component GO:0005774 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005774 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0034361 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034361 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0001735 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001735 GO_function GO:0008555 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008555 GO_process GO:0030327 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030327 GO_process GO:0030328 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030328 GO_process GO:0030329 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030329 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005764 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005764 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0016491 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016491 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006520 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006520 GOslim_process GO:0006790 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006790 GOslim_process GO:0009056 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009056 Gene3D 3.50.50.60 http://www.cathdb.info/version/latest/superfamily/3.50.50.60 GeneCards PCYOX1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=PCYOX1 GeneID 51449 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=51449 GeneTree ENSGT00390000011206 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000011206 HGNC HGNC:20588 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:20588 HOGENOM HOG000241149 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000241149&db=HOGENOM6 HOVERGEN HBG053532 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG053532&db=HOVERGEN HPA HPA035193 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA035193 InParanoid Q9UHG3 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9UHG3 IntAct Q9UHG3 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9UHG3* IntEnz 1.8.3.5 http://www.ebi.ac.uk/intenz/query?cmd=Search&q=1.8.3.5 InterPro IPR010795 http://www.ebi.ac.uk/interpro/entry/IPR010795 InterPro IPR017046 http://www.ebi.ac.uk/interpro/entry/IPR017046 InterPro IPR023753 http://www.ebi.ac.uk/interpro/entry/IPR023753 Jabion 51449 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=51449 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Gene hsa:51449 http://www.genome.jp/dbget-bin/www_bget?hsa:51449 KEGG_Orthology KO:K05906 http://www.genome.jp/dbget-bin/www_bget?KO:K05906 KEGG_Pathway ko00900 http://www.genome.jp/kegg-bin/show_pathway?ko00900 KEGG_Reaction rn:R09562 http://www.genome.jp/dbget-bin/www_bget?rn:R09562 MIM 610995 http://www.ncbi.nlm.nih.gov/omim/610995 OMA NGIECAA http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=NGIECAA OrthoDB EOG091G0A3Q http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0A3Q PANTHER PTHR15944 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR15944 PSORT swissprot:PCYOX_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:PCYOX_HUMAN PSORT-B swissprot:PCYOX_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:PCYOX_HUMAN PSORT2 swissprot:PCYOX_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:PCYOX_HUMAN Pfam PF07156 http://pfam.xfam.org/family/PF07156 PharmGKB PA134959852 http://www.pharmgkb.org/do/serve?objId=PA134959852&objCls=Gene Phobius swissprot:PCYOX_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:PCYOX_HUMAN PhylomeDB Q9UHG3 http://phylomedb.org/?seqid=Q9UHG3 ProteinModelPortal Q9UHG3 http://www.proteinmodelportal.org/query/uniprot/Q9UHG3 PubMed 10048485 http://www.ncbi.nlm.nih.gov/pubmed/10048485 PubMed 10585463 http://www.ncbi.nlm.nih.gov/pubmed/10585463 PubMed 12975309 http://www.ncbi.nlm.nih.gov/pubmed/12975309 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 PubMed 16335952 http://www.ncbi.nlm.nih.gov/pubmed/16335952 PubMed 19159218 http://www.ncbi.nlm.nih.gov/pubmed/19159218 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 RefSeq NP_057381 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_057381 STRING 9606.ENSP00000387654 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000387654&targetmode=cogs SUPFAM SSF51905 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF51905 UCSC uc002sgn http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002sgn&org=rat UniGene Hs.567502 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.567502 UniProtKB PCYOX_HUMAN http://www.uniprot.org/uniprot/PCYOX_HUMAN UniProtKB-AC Q9UHG3 http://www.uniprot.org/uniprot/Q9UHG3 charge swissprot:PCYOX_HUMAN http://rest.g-language.org/emboss/charge/swissprot:PCYOX_HUMAN eggNOG ENOG410IE2Q http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IE2Q eggNOG ENOG410Y3UN http://eggnogapi.embl.de/nog_data/html/tree/ENOG410Y3UN epestfind swissprot:PCYOX_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:PCYOX_HUMAN garnier swissprot:PCYOX_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:PCYOX_HUMAN helixturnhelix swissprot:PCYOX_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:PCYOX_HUMAN hmoment swissprot:PCYOX_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:PCYOX_HUMAN iep swissprot:PCYOX_HUMAN http://rest.g-language.org/emboss/iep/swissprot:PCYOX_HUMAN inforesidue swissprot:PCYOX_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:PCYOX_HUMAN neXtProt NX_Q9UHG3 http://www.nextprot.org/db/entry/NX_Q9UHG3 octanol swissprot:PCYOX_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:PCYOX_HUMAN pepcoil swissprot:PCYOX_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:PCYOX_HUMAN pepdigest swissprot:PCYOX_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:PCYOX_HUMAN pepinfo swissprot:PCYOX_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:PCYOX_HUMAN pepnet swissprot:PCYOX_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:PCYOX_HUMAN pepstats swissprot:PCYOX_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:PCYOX_HUMAN pepwheel swissprot:PCYOX_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:PCYOX_HUMAN pepwindow swissprot:PCYOX_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:PCYOX_HUMAN sigcleave swissprot:PCYOX_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:PCYOX_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS ACHD_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q07001-1; Sequence=Displayed; Name=2; IsoId=Q07001-2; Sequence=VSP_046423; Note=No experimental confirmation available.; # BioGrid 107566 53 # CCDS CCDS2494 -. [Q07001-1] # CCDS CCDS58754 -. [Q07001-2] # DISEASE ACHD_HUMAN Multiple pterygium syndrome, lethal type (LMPS) [MIM 253290] Multiple pterygia are found infrequently in children with arthrogryposis and in fetuses with fetal akinesia syndrome. In lethal multiple pterygium syndrome there is intrauterine growth retardation, multiple pterygia, and flexion contractures causing severe arthrogryposis and fetal akinesia. Subcutaneous edema can be severe, causing fetal hydrops with cystic hygroma and lung hypoplasia. Oligohydramnios and facial anomalies are frequent. {ECO 0000269|PubMed 18252226}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE ACHD_HUMAN Myasthenic syndrome, congenital, 3A, slow-channel (CMS3A) [MIM 616321] A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS3A is a slow-channel myasthenic syndrome. It is caused by kinetic abnormalities of the AChR, resulting in prolonged AChR channel opening episodes, prolonged endplate currents, and depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane. {ECO 0000269|PubMed 11782989, ECO 0000269|PubMed 8872460}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE ACHD_HUMAN Myasthenic syndrome, congenital, 3B, fast-channel (CMS3B) [MIM 616322] A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS3B is a fast-channel myasthenic syndrome. It is caused by kinetic abnormalities of the AChR, resulting in brief opening and activity of the channel, with a rapid decay in endplate current, failure to achieve threshold depolarization of the endplate and consequent failure to fire an action potential. {ECO 0000269|PubMed 11435464, ECO 0000269|PubMed 12499478, ECO 0000269|PubMed 18398509}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE ACHD_HUMAN Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency (CMS3C) [MIM 616323] A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS3C is an autosomal recessive disorder of postsynaptic neuromuscular transmission, due to deficiency of AChR at the endplate that results in low amplitude of the miniature endplate potential and current. {ECO 0000269|PubMed 16916845, ECO 0000269|PubMed 18398509}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DrugBank DB00674 Galantamine # Ensembl ENST00000258385 ENSP00000258385; ENSG00000135902. [Q07001-1] # Ensembl ENST00000543200 ENSP00000438380; ENSG00000135902. [Q07001-2] # ExpressionAtlas Q07001 baseline and differential # FUNCTION ACHD_HUMAN After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005892 acetylcholine-gated channel complex; TAS:ProtInc. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0045211 postsynaptic membrane; NAS:BHF-UCL. # GO_function GO:0004889 acetylcholine-activated cation-selective channel activity; TAS:ProtInc. # GO_function GO:0015276 ligand-gated ion channel activity; TAS:Reactome. # GO_function GO:0042166 acetylcholine binding; IEA:Ensembl. # GO_process GO:0003009 skeletal muscle contraction; IEA:Ensembl. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0006936 muscle contraction; TAS:ProtInc. # GO_process GO:0007165 signal transduction; TAS:ProtInc. # GO_process GO:0007271 synaptic transmission, cholinergic; IBA:GO_Central. # GO_process GO:0007274 neuromuscular synaptic transmission; IBA:GO_Central. # GO_process GO:0035094 response to nicotine; IBA:GO_Central. # GO_process GO:0042391 regulation of membrane potential; IEA:Ensembl. # GO_process GO:0048630 skeletal muscle tissue growth; IMP:BHF-UCL. # GO_process GO:0050881 musculoskeletal movement; IMP:BHF-UCL. # GO_process GO:0050905 neuromuscular process; NAS:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # GOslim_process GO:0040007 growth # GOslim_process GO:0050877 neurological system process # Gene3D 1.20.120.370 -; 2. # Gene3D 2.70.170.10 -; 1. # Genevisible Q07001 HS # HGNC HGNC:1965 CHRND # InterPro IPR002394 Nicotinic_acetylcholine_rcpt # InterPro IPR006029 Neurotrans-gated_channel_TM # InterPro IPR006201 Neur_channel # InterPro IPR006202 Neur_chan_lig-bd # InterPro IPR018000 Neurotransmitter_ion_chnl_CS # InterPro IPR027361 Acetylcholine_rcpt_TM # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00770 [Nervous system disease] Congenital myasthenic syndrome # KEGG_Disease H00986 [Developmental disorder] Multiple pterygium syndrome, Escobar variant (EVMPS) # KEGG_Pathway ko04080 Neuroactive ligand-receptor interaction # MIM 100720 gene # MIM 253290 phenotype # MIM 616321 phenotype # MIM 616322 phenotype # MIM 616323 phenotype # Organism ACHD_HUMAN Homo sapiens (Human) # Orphanet 33108 Lethal multiple pterygium syndrome # Orphanet 98913 Postsynaptic congenital myasthenic syndromes # PANTHER PTHR18945 PTHR18945; 2 # PIR A60916 A60916 # PRINTS PR00252 NRIONCHANNEL # PRINTS PR00254 NICOTINICR # PROSITE PS00236 NEUROTR_ION_CHANNEL # Pfam PF02931 Neur_chan_LBD # Pfam PF02932 Neur_chan_memb # Proteomes UP000005640 Chromosome 2 # Reactome R-HSA-629587 Highly sodium permeable acetylcholine nicotinic receptors # RecName ACHD_HUMAN Acetylcholine receptor subunit delta # RefSeq NP_000742 NM_000751.2. [Q07001-1] # RefSeq NP_001243586 NM_001256657.1. [Q07001-2] # RefSeq NP_001298124 NM_001311195.1 # RefSeq NP_001298125 NM_001311196.1 # SIMILARITY Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Delta/CHRND sub-subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION ACHD_HUMAN Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. # SUBUNIT ACHD_HUMAN Pentamer of two alpha chains, and one each of the beta, delta, and gamma (in immature muscle) or epsilon (in mature muscle) chains. # SUPFAM SSF63712 SSF63712 # SUPFAM SSF90112 SSF90112 # TCDB 1.A.9.1 the neurotransmitter receptor, cys loop, ligand-gated ion channel (lic) family # TIGRFAMs TIGR00860 LIC # UCSC uc002vsw human. [Q07001-1] # eggNOG ENOG410XQGR LUCA # eggNOG KOG3645 Eukaryota BLAST swissprot:ACHD_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ACHD_HUMAN BioCyc ZFISH:ENSG00000135902-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000135902-MONOMER COXPRESdb 1144 http://coxpresdb.jp/data/gene/1144.shtml CleanEx HS_CHRND http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CHRND DOI 10.1002/ana.10077 http://dx.doi.org/10.1002/ana.10077 DOI 10.1016/j.ajhg.2007.11.006 http://dx.doi.org/10.1016/j.ajhg.2007.11.006 DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1093/brain/awl188 http://dx.doi.org/10.1093/brain/awl188 DOI 10.1093/hmg/5.9.1217 http://dx.doi.org/10.1093/hmg/5.9.1217 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1133427 http://dx.doi.org/10.1126/science.1133427 DOI 10.1172/JCI200112935 http://dx.doi.org/10.1172/JCI200112935 DOI 10.1172/JCI34527 http://dx.doi.org/10.1172/JCI34527 DOI 10.1212/01.WNL.0000042422.87384.2F http://dx.doi.org/10.1212/01.WNL.0000042422.87384.2F DrugBank DB00674 http://www.drugbank.ca/drugs/DB00674 EMBL AC092165 http://www.ebi.ac.uk/ena/data/view/AC092165 EMBL AK291526 http://www.ebi.ac.uk/ena/data/view/AK291526 EMBL AK300109 http://www.ebi.ac.uk/ena/data/view/AK300109 EMBL AK315297 http://www.ebi.ac.uk/ena/data/view/AK315297 EMBL BC093923 http://www.ebi.ac.uk/ena/data/view/BC093923 EMBL BC093925 http://www.ebi.ac.uk/ena/data/view/BC093925 EMBL CH471063 http://www.ebi.ac.uk/ena/data/view/CH471063 EMBL X55019 http://www.ebi.ac.uk/ena/data/view/X55019 Ensembl ENST00000258385 http://www.ensembl.org/id/ENST00000258385 Ensembl ENST00000543200 http://www.ensembl.org/id/ENST00000543200 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005892 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005892 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0045211 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045211 GO_function GO:0004889 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004889 GO_function GO:0015276 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015276 GO_function GO:0042166 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042166 GO_process GO:0003009 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003009 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0006936 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006936 GO_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GO_process GO:0007271 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007271 GO_process GO:0007274 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007274 GO_process GO:0035094 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035094 GO_process GO:0042391 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042391 GO_process GO:0048630 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048630 GO_process GO:0050881 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050881 GO_process GO:0050905 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050905 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0040007 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0040007 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 Gene3D 1.20.120.370 http://www.cathdb.info/version/latest/superfamily/1.20.120.370 Gene3D 2.70.170.10 http://www.cathdb.info/version/latest/superfamily/2.70.170.10 GeneCards CHRND http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CHRND GeneID 1144 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=1144 GeneTree ENSGT00760000118930 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118930 HGNC HGNC:1965 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:1965 HOGENOM HOG000006757 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000006757&db=HOGENOM6 HOVERGEN HBG003756 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG003756&db=HOVERGEN HPA CAB000086 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB000086 HPA CAB016303 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB016303 InParanoid Q07001 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q07001 IntAct Q07001 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q07001* InterPro IPR002394 http://www.ebi.ac.uk/interpro/entry/IPR002394 InterPro IPR006029 http://www.ebi.ac.uk/interpro/entry/IPR006029 InterPro IPR006201 http://www.ebi.ac.uk/interpro/entry/IPR006201 InterPro IPR006202 http://www.ebi.ac.uk/interpro/entry/IPR006202 InterPro IPR018000 http://www.ebi.ac.uk/interpro/entry/IPR018000 InterPro IPR027361 http://www.ebi.ac.uk/interpro/entry/IPR027361 Jabion 1144 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=1144 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00770 http://www.genome.jp/dbget-bin/www_bget?H00770 KEGG_Disease H00986 http://www.genome.jp/dbget-bin/www_bget?H00986 KEGG_Gene hsa:1144 http://www.genome.jp/dbget-bin/www_bget?hsa:1144 KEGG_Orthology KO:K04816 http://www.genome.jp/dbget-bin/www_bget?KO:K04816 KEGG_Pathway ko04080 http://www.genome.jp/kegg-bin/show_pathway?ko04080 MIM 100720 http://www.ncbi.nlm.nih.gov/omim/100720 MIM 253290 http://www.ncbi.nlm.nih.gov/omim/253290 MIM 616321 http://www.ncbi.nlm.nih.gov/omim/616321 MIM 616322 http://www.ncbi.nlm.nih.gov/omim/616322 MIM 616323 http://www.ncbi.nlm.nih.gov/omim/616323 OMA RLCLFLI http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=RLCLFLI Orphanet 33108 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=33108 Orphanet 98913 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=98913 OrthoDB EOG091G0R20 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0R20 PANTHER PTHR18945 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR18945 PRINTS PR00252 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00252 PRINTS PR00254 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00254 PROSITE PS00236 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00236 PSORT swissprot:ACHD_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ACHD_HUMAN PSORT-B swissprot:ACHD_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ACHD_HUMAN PSORT2 swissprot:ACHD_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ACHD_HUMAN Pfam PF02931 http://pfam.xfam.org/family/PF02931 Pfam PF02932 http://pfam.xfam.org/family/PF02932 PharmGKB PA26497 http://www.pharmgkb.org/do/serve?objId=PA26497&objCls=Gene Phobius swissprot:ACHD_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ACHD_HUMAN PhylomeDB Q07001 http://phylomedb.org/?seqid=Q07001 ProteinModelPortal Q07001 http://www.proteinmodelportal.org/query/uniprot/Q07001 PubMed 11435464 http://www.ncbi.nlm.nih.gov/pubmed/11435464 PubMed 11782989 http://www.ncbi.nlm.nih.gov/pubmed/11782989 PubMed 12499478 http://www.ncbi.nlm.nih.gov/pubmed/12499478 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 PubMed 16916845 http://www.ncbi.nlm.nih.gov/pubmed/16916845 PubMed 16959974 http://www.ncbi.nlm.nih.gov/pubmed/16959974 PubMed 18252226 http://www.ncbi.nlm.nih.gov/pubmed/18252226 PubMed 18398509 http://www.ncbi.nlm.nih.gov/pubmed/18398509 PubMed 2564429 http://www.ncbi.nlm.nih.gov/pubmed/2564429 PubMed 8872460 http://www.ncbi.nlm.nih.gov/pubmed/8872460 Reactome R-HSA-629587 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-629587 RefSeq NP_000742 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000742 RefSeq NP_001243586 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001243586 RefSeq NP_001298124 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001298124 RefSeq NP_001298125 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001298125 STRING 9606.ENSP00000258385 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000258385&targetmode=cogs SUPFAM SSF63712 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF63712 SUPFAM SSF90112 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF90112 TCDB 1.A.9.1 http://www.tcdb.org/search/result.php?tc=1.A.9.1 TIGRFAMs TIGR00860 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00860 UCSC uc002vsw http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002vsw&org=rat UniGene Hs.156289 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.156289 UniProtKB ACHD_HUMAN http://www.uniprot.org/uniprot/ACHD_HUMAN UniProtKB-AC Q07001 http://www.uniprot.org/uniprot/Q07001 charge swissprot:ACHD_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ACHD_HUMAN eggNOG ENOG410XQGR http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XQGR eggNOG KOG3645 http://eggnogapi.embl.de/nog_data/html/tree/KOG3645 epestfind swissprot:ACHD_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ACHD_HUMAN garnier swissprot:ACHD_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ACHD_HUMAN helixturnhelix swissprot:ACHD_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ACHD_HUMAN hmoment swissprot:ACHD_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ACHD_HUMAN iep swissprot:ACHD_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ACHD_HUMAN inforesidue swissprot:ACHD_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ACHD_HUMAN neXtProt NX_Q07001 http://www.nextprot.org/db/entry/NX_Q07001 octanol swissprot:ACHD_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ACHD_HUMAN pepcoil swissprot:ACHD_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ACHD_HUMAN pepdigest swissprot:ACHD_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ACHD_HUMAN pepinfo swissprot:ACHD_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ACHD_HUMAN pepnet swissprot:ACHD_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ACHD_HUMAN pepstats swissprot:ACHD_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ACHD_HUMAN pepwheel swissprot:ACHD_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ACHD_HUMAN pepwindow swissprot:ACHD_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ACHD_HUMAN sigcleave swissprot:ACHD_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ACHD_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS COX18_HUMAN Event=Alternative splicing; Named isoforms=4; Name=1; Synonyms=Hs1; IsoId=Q8N8Q8-1; Sequence=Displayed; Name=2; Synonyms=Hs2; IsoId=Q8N8Q8-2; Sequence=VSP_022312, VSP_022314; Name=3; Synonyms=Hs3; IsoId=Q8N8Q8-3; Sequence=VSP_022311, VSP_022315; Name=4; IsoId=Q8N8Q8-4; Sequence=VSP_022313, VSP_022316; Note=No experimental confirmation available.; # AltName COX18_HUMAN Cytochrome c oxidase assembly protein 18 # CCDS CCDS3554 -. [Q8N8Q8-1] # Ensembl ENST00000295890 ENSP00000295890; ENSG00000163626. [Q8N8Q8-1] # Ensembl ENST00000449739 ENSP00000394583; ENSG00000163626. [Q8N8Q8-3] # Ensembl ENST00000510031 ENSP00000424978; ENSG00000163626. [Q8N8Q8-2] # ExpressionAtlas Q8N8Q8 baseline and differential # FUNCTION COX18_HUMAN Required for the insertion of integral membrane proteins into the mitochondrial inner membrane. Essential for the activity and assembly of cytochrome c oxidase. Plays a central role in the translocation and export of the C-terminal part of the COX2 protein into the mitochondrial intermembrane space. {ECO 0000269|PubMed 16911509}. # GO_component GO:0031305 integral component of mitochondrial inner membrane; IDA:UniProtKB. # GO_function GO:0008565 protein transporter activity; IGI:UniProtKB. # GO_process GO:0008535 respiratory chain complex IV assembly; IGI:UniProtKB. # GO_process GO:0051204 protein insertion into mitochondrial membrane; IGI:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0008565 protein transporter activity # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0007005 mitochondrion organization # GOslim_process GO:0061024 membrane organization # Genevisible Q8N8Q8 HS # HGNC HGNC:26801 COX18 # InterPro IPR001708 Membrane_insert_OXA1/ALB3/YidC # MIM 610428 gene # Organism COX18_HUMAN Homo sapiens (Human) # PANTHER PTHR12428 PTHR12428 # Pfam PF02096 60KD_IMP # Proteomes UP000005640 Chromosome 4 # Reactome R-HSA-5628897 TP53 Regulates Metabolic Genes # Reactome R-HSA-611105 Respiratory electron transport # RecName COX18_HUMAN Mitochondrial inner membrane protein COX18 # RefSeq NP_001284662 NM_001297733.1 # RefSeq NP_001287658 NM_001300729.1 # RefSeq NP_776188 NM_173827.3. [Q8N8Q8-1] # SEQUENCE CAUTION Sequence=AAH71812.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the OXA1/ALB3/YidC family. {ECO 0000305}. # SUBCELLULAR LOCATION COX18_HUMAN Mitochondrion inner membrane {ECO 0000269|PubMed 16212937}; Multi-pass membrane protein {ECO 0000269|PubMed 16212937}. # UCSC uc003hgm human. [Q8N8Q8-1] # eggNOG COG0706 LUCA # eggNOG KOG1239 Eukaryota BLAST swissprot:COX18_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:COX18_HUMAN BioCyc ZFISH:ENSG00000163626-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000163626-MONOMER COXPRESdb 285521 http://coxpresdb.jp/data/gene/285521.shtml CleanEx HS_COX18 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_COX18 DOI 10.1016/j.bbrc.2005.09.127 http://dx.doi.org/10.1016/j.bbrc.2005.09.127 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1567-1364.2006.00083.x http://dx.doi.org/10.1111/j.1567-1364.2006.00083.x EMBL AK096310 http://www.ebi.ac.uk/ena/data/view/AK096310 EMBL AM055750 http://www.ebi.ac.uk/ena/data/view/AM055750 EMBL AM055751 http://www.ebi.ac.uk/ena/data/view/AM055751 EMBL AM055752 http://www.ebi.ac.uk/ena/data/view/AM055752 EMBL AY957564 http://www.ebi.ac.uk/ena/data/view/AY957564 EMBL AY957565 http://www.ebi.ac.uk/ena/data/view/AY957565 EMBL BC071812 http://www.ebi.ac.uk/ena/data/view/BC071812 EMBL BC101684 http://www.ebi.ac.uk/ena/data/view/BC101684 Ensembl ENST00000295890 http://www.ensembl.org/id/ENST00000295890 Ensembl ENST00000449739 http://www.ensembl.org/id/ENST00000449739 Ensembl ENST00000510031 http://www.ensembl.org/id/ENST00000510031 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0031305 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031305 GO_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GO_process GO:0008535 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008535 GO_process GO:0051204 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051204 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0007005 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007005 GOslim_process GO:0061024 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061024 GeneCards COX18 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=COX18 GeneID 285521 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=285521 GeneTree ENSGT00530000063506 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000063506 HGNC HGNC:26801 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:26801 HOVERGEN HBG081304 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG081304&db=HOVERGEN HPA HPA046772 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA046772 HPA HPA049489 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA049489 InParanoid Q8N8Q8 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8N8Q8 InterPro IPR001708 http://www.ebi.ac.uk/interpro/entry/IPR001708 Jabion 285521 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=285521 KEGG_Gene hsa:285521 http://www.genome.jp/dbget-bin/www_bget?hsa:285521 MIM 610428 http://www.ncbi.nlm.nih.gov/omim/610428 PANTHER PTHR12428 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12428 PSORT swissprot:COX18_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:COX18_HUMAN PSORT-B swissprot:COX18_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:COX18_HUMAN PSORT2 swissprot:COX18_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:COX18_HUMAN Pfam PF02096 http://pfam.xfam.org/family/PF02096 PharmGKB PA145008543 http://www.pharmgkb.org/do/serve?objId=PA145008543&objCls=Gene Phobius swissprot:COX18_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:COX18_HUMAN PhylomeDB Q8N8Q8 http://phylomedb.org/?seqid=Q8N8Q8 ProteinModelPortal Q8N8Q8 http://www.proteinmodelportal.org/query/uniprot/Q8N8Q8 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16212937 http://www.ncbi.nlm.nih.gov/pubmed/16212937 PubMed 16911509 http://www.ncbi.nlm.nih.gov/pubmed/16911509 Reactome R-HSA-5628897 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5628897 Reactome R-HSA-611105 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-611105 RefSeq NP_001284662 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001284662 RefSeq NP_001287658 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001287658 RefSeq NP_776188 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_776188 STRING 9606.ENSP00000295890 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000295890&targetmode=cogs UCSC uc003hgm http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003hgm&org=rat UniGene Hs.356697 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.356697 UniProtKB COX18_HUMAN http://www.uniprot.org/uniprot/COX18_HUMAN UniProtKB-AC Q8N8Q8 http://www.uniprot.org/uniprot/Q8N8Q8 charge swissprot:COX18_HUMAN http://rest.g-language.org/emboss/charge/swissprot:COX18_HUMAN eggNOG COG0706 http://eggnogapi.embl.de/nog_data/html/tree/COG0706 eggNOG KOG1239 http://eggnogapi.embl.de/nog_data/html/tree/KOG1239 epestfind swissprot:COX18_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:COX18_HUMAN garnier swissprot:COX18_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:COX18_HUMAN helixturnhelix swissprot:COX18_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:COX18_HUMAN hmoment swissprot:COX18_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:COX18_HUMAN iep swissprot:COX18_HUMAN http://rest.g-language.org/emboss/iep/swissprot:COX18_HUMAN inforesidue swissprot:COX18_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:COX18_HUMAN neXtProt NX_Q8N8Q8 http://www.nextprot.org/db/entry/NX_Q8N8Q8 octanol swissprot:COX18_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:COX18_HUMAN pepcoil swissprot:COX18_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:COX18_HUMAN pepdigest swissprot:COX18_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:COX18_HUMAN pepinfo swissprot:COX18_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:COX18_HUMAN pepnet swissprot:COX18_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:COX18_HUMAN pepstats swissprot:COX18_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:COX18_HUMAN pepwheel swissprot:COX18_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:COX18_HUMAN pepwindow swissprot:COX18_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:COX18_HUMAN sigcleave swissprot:COX18_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:COX18_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS AP1S3_HUMAN Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q96PC3-1; Sequence=Displayed; Name=2; IsoId=Q96PC3-2; Sequence=VSP_015944; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=4; IsoId=Q96PC3-4; Sequence=VSP_040384; Note=No experimental confirmation available.; Name=3; IsoId=Q96PC3-3; Sequence=VSP_015942, VSP_015943; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; # AltName AP1S3_HUMAN Adaptor protein complex AP-1 subunit sigma-1C # AltName AP1S3_HUMAN Adaptor-related protein complex 1 subunit sigma-1C # AltName AP1S3_HUMAN Clathrin assembly protein complex 1 sigma-1C small chain # AltName AP1S3_HUMAN Golgi adaptor HA1/AP1 adaptin sigma-1C subunit # AltName AP1S3_HUMAN Sigma 1C subunit of AP-1 clathrin # AltName AP1S3_HUMAN Sigma-adaptin 1C # AltName AP1S3_HUMAN Sigma1C-adaptin # BioGrid 126229 4 # CCDS CCDS42827 -. [Q96PC3-4] # ChiTaRS AP1S3 human # DISEASE AP1S3_HUMAN Psoriasis 15, pustular (PSORS15) [MIM 616106] A form of pustular psoriasis, a life-threatening disease defined by repeated flares of sudden onset consisting of diffuse erythematous skin eruption characterized by rapid coverage with pustules, high-grade fever, asthenia, marked leukocytosis, and elevated serum levels of C-reactive protein. {ECO 0000269|PubMed 24791904}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. # Ensembl ENST00000396654 ENSP00000379891; ENSG00000152056. [Q96PC3-4] # Ensembl ENST00000415298 ENSP00000401705; ENSG00000152056. [Q96PC3-3] # Ensembl ENST00000443700 ENSP00000397155; ENSG00000152056. [Q96PC3-2] # Ensembl ENST00000446015 ENSP00000388738; ENSG00000152056. [Q96PC3-1] # ExpressionAtlas Q96PC3 baseline and differential # FUNCTION AP1S3_HUMAN Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. Involved in TLR3 trafficking (PubMed 24791904). {ECO 0000269|PubMed 24791904}. # GO_component GO:0000139 Golgi membrane; TAS:Reactome. # GO_component GO:0005765 lysosomal membrane; TAS:Reactome. # GO_component GO:0005829 cytosol; TAS:Reactome. # GO_component GO:0005905 clathrin-coated pit; IEA:UniProtKB-SubCell. # GO_component GO:0030117 membrane coat; IEA:InterPro. # GO_component GO:0030659 cytoplasmic vesicle membrane; TAS:Reactome. # GO_component GO:0030669 clathrin-coated endocytic vesicle membrane; TAS:Reactome. # GO_component GO:0032588 trans-Golgi network membrane; TAS:Reactome. # GO_function GO:0008565 protein transporter activity; IEA:InterPro. # GO_process GO:0006605 protein targeting; IMP:UniProtKB. # GO_process GO:0016192 vesicle-mediated transport; IEA:InterPro. # GO_process GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II; TAS:Reactome. # GO_process GO:0050690 regulation of defense response to virus by virus; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005829 cytosol # GOslim_component GO:0043234 protein complex # GOslim_function GO:0008565 protein transporter activity # GOslim_process GO:0002376 immune system process # GOslim_process GO:0006605 protein targeting # GOslim_process GO:0008150 biological_process # GOslim_process GO:0016192 vesicle-mediated transport # Genevisible Q96PC3 HS # HGNC HGNC:18971 AP1S3 # INTERACTION AP1S3_HUMAN Q6PD74 AAGAB; NbExp=3; IntAct=EBI-3923129, EBI-719906; # IntAct Q96PC3 5 # InterPro IPR000804 Clathrin_sm-chain_CS # InterPro IPR011012 Longin-like_dom # InterPro IPR016635 AP_complex_ssu # InterPro IPR022775 AP_mu_sigma_su # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Pathway ko04142 Lysosome # MIM 615781 gene # MIM 616106 phenotype # Organism AP1S3_HUMAN Homo sapiens (Human) # Orphanet 163927 Pustulosis palmaris et plantaris # Orphanet 163931 Acrodermatitis continua suppurativa of Hallopeau # Orphanet 247353 Generalized pustular psoriasis # PANTHER PTHR11753 PTHR11753 # PDB 4HMY X-ray; 7.00 A; S=1-154 # PIRSF PIRSF015588 AP_complex_sigma # PROSITE PS00989 CLAT_ADAPTOR_S # Pfam PF01217 Clat_adaptor_s # Proteomes UP000005640 Chromosome 2 # Reactome R-HSA-164940 Nef mediated downregulation of MHC class I complex cell surface expression # Reactome R-HSA-2132295 MHC class II antigen presentation # Reactome R-HSA-432720 Lysosome Vesicle Biogenesis # Reactome R-HSA-432722 Golgi Associated Vesicle Biogenesis # RecName AP1S3_HUMAN AP-1 complex subunit sigma-3 # RefSeq NP_001034658 NM_001039569.1. [Q96PC3-4] # SIMILARITY Belongs to the adaptor complexes small subunit family. {ECO 0000305}. # SUBCELLULAR LOCATION AP1S3_HUMAN Golgi apparatus. Cytoplasmic vesicle membrane; Peripheral membrane protein; Cytoplasmic side. Membrane, clathrin-coated pit. Note=Component of the coat surrounding the cytoplasmic face of coated vesicles located at the Golgi complex. # SUBUNIT AP1S3_HUMAN Adaptor protein complex 1 (AP-1) is a heterotetramer composed of two large adaptins (gamma-type subunit AP1G1 and beta- type subunit AP1B1), a medium adaptin (mu-type subunit AP1M1 or AP1M2) and a small adaptin (sigma-type subunit AP1S1 or AP1S2 or AP1S3). # SUPFAM SSF64356 SSF64356 # TISSUE SPECIFICITY AP1S3_HUMAN Widely expressed. # UCSC uc002vnn human. [Q96PC3-1] # eggNOG COG5030 LUCA # eggNOG KOG0934 Eukaryota BLAST swissprot:AP1S3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:AP1S3_HUMAN BioCyc ZFISH:ENSG00000152056-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000152056-MONOMER COXPRESdb 130340 http://coxpresdb.jp/data/gene/130340.shtml CleanEx HS_AP1S3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_AP1S3 DOI 10.1016/j.ajhg.2014.04.005 http://dx.doi.org/10.1016/j.ajhg.2014.04.005 DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1091/mbc.12.10.2907 http://dx.doi.org/10.1091/mbc.12.10.2907 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AC012512 http://www.ebi.ac.uk/ena/data/view/AC012512 EMBL AC093884 http://www.ebi.ac.uk/ena/data/view/AC093884 EMBL AF393369 http://www.ebi.ac.uk/ena/data/view/AF393369 EMBL AK299026 http://www.ebi.ac.uk/ena/data/view/AK299026 EMBL BC009606 http://www.ebi.ac.uk/ena/data/view/BC009606 EMBL BC021898 http://www.ebi.ac.uk/ena/data/view/BC021898 Ensembl ENST00000396654 http://www.ensembl.org/id/ENST00000396654 Ensembl ENST00000415298 http://www.ensembl.org/id/ENST00000415298 Ensembl ENST00000443700 http://www.ensembl.org/id/ENST00000443700 Ensembl ENST00000446015 http://www.ensembl.org/id/ENST00000446015 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000139 GO_component GO:0005765 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005765 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0005905 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005905 GO_component GO:0030117 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030117 GO_component GO:0030659 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030659 GO_component GO:0030669 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030669 GO_component GO:0032588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032588 GO_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GO_process GO:0006605 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006605 GO_process GO:0016192 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016192 GO_process GO:0019886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019886 GO_process GO:0050690 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050690 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_process GO:0002376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002376 GOslim_process GO:0006605 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006605 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0016192 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016192 GeneCards AP1S3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=AP1S3 GeneID 130340 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=130340 GeneTree ENSGT00530000062839 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000062839 HGNC HGNC:18971 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:18971 HOGENOM HOG000185227 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000185227&db=HOGENOM6 HOVERGEN HBG050517 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050517&db=HOVERGEN HPA HPA066782 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA066782 InParanoid Q96PC3 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q96PC3 IntAct Q96PC3 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q96PC3* InterPro IPR000804 http://www.ebi.ac.uk/interpro/entry/IPR000804 InterPro IPR011012 http://www.ebi.ac.uk/interpro/entry/IPR011012 InterPro IPR016635 http://www.ebi.ac.uk/interpro/entry/IPR016635 InterPro IPR022775 http://www.ebi.ac.uk/interpro/entry/IPR022775 Jabion 130340 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=130340 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Gene hsa:130340 http://www.genome.jp/dbget-bin/www_bget?hsa:130340 KEGG_Orthology KO:K12395 http://www.genome.jp/dbget-bin/www_bget?KO:K12395 KEGG_Pathway ko04142 http://www.genome.jp/kegg-bin/show_pathway?ko04142 MIM 615781 http://www.ncbi.nlm.nih.gov/omim/615781 MIM 616106 http://www.ncbi.nlm.nih.gov/omim/616106 OMA ESDMLQE http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=ESDMLQE Orphanet 163927 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=163927 Orphanet 163931 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=163931 Orphanet 247353 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=247353 OrthoDB EOG091G0QZV http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0QZV PANTHER PTHR11753 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11753 PDB 4HMY http://www.ebi.ac.uk/pdbe-srv/view/entry/4HMY PDBsum 4HMY http://www.ebi.ac.uk/pdbsum/4HMY PROSITE PS00989 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00989 PSORT swissprot:AP1S3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:AP1S3_HUMAN PSORT-B swissprot:AP1S3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:AP1S3_HUMAN PSORT2 swissprot:AP1S3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:AP1S3_HUMAN Pfam PF01217 http://pfam.xfam.org/family/PF01217 Phobius swissprot:AP1S3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:AP1S3_HUMAN PhylomeDB Q96PC3 http://phylomedb.org/?seqid=Q96PC3 ProteinModelPortal Q96PC3 http://www.proteinmodelportal.org/query/uniprot/Q96PC3 PubMed 11598180 http://www.ncbi.nlm.nih.gov/pubmed/11598180 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 PubMed 24791904 http://www.ncbi.nlm.nih.gov/pubmed/24791904 Reactome R-HSA-164940 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-164940 Reactome R-HSA-2132295 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2132295 Reactome R-HSA-432720 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-432720 Reactome R-HSA-432722 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-432722 RefSeq NP_001034658 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001034658 SMR Q96PC3 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q96PC3 STRING 9606.ENSP00000379891 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000379891&targetmode=cogs SUPFAM SSF64356 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF64356 UCSC uc002vnn http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002vnn&org=rat UniGene Hs.632555 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.632555 UniProtKB AP1S3_HUMAN http://www.uniprot.org/uniprot/AP1S3_HUMAN UniProtKB-AC Q96PC3 http://www.uniprot.org/uniprot/Q96PC3 charge swissprot:AP1S3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:AP1S3_HUMAN eggNOG COG5030 http://eggnogapi.embl.de/nog_data/html/tree/COG5030 eggNOG KOG0934 http://eggnogapi.embl.de/nog_data/html/tree/KOG0934 epestfind swissprot:AP1S3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:AP1S3_HUMAN garnier swissprot:AP1S3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:AP1S3_HUMAN helixturnhelix swissprot:AP1S3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:AP1S3_HUMAN hmoment swissprot:AP1S3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:AP1S3_HUMAN iep swissprot:AP1S3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:AP1S3_HUMAN inforesidue swissprot:AP1S3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:AP1S3_HUMAN neXtProt NX_Q96PC3 http://www.nextprot.org/db/entry/NX_Q96PC3 octanol swissprot:AP1S3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:AP1S3_HUMAN pepcoil swissprot:AP1S3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:AP1S3_HUMAN pepdigest swissprot:AP1S3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:AP1S3_HUMAN pepinfo swissprot:AP1S3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:AP1S3_HUMAN pepnet swissprot:AP1S3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:AP1S3_HUMAN pepstats swissprot:AP1S3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:AP1S3_HUMAN pepwheel swissprot:AP1S3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:AP1S3_HUMAN pepwindow swissprot:AP1S3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:AP1S3_HUMAN sigcleave swissprot:AP1S3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:AP1S3_HUMAN ## Database ID URL or Descriptions # AltName GTR8_HUMAN Glucose transporter type 8 # AltName GTR8_HUMAN Glucose transporter type X1 # BioGrid 119013 9 # CDD cd06174 MFS # Ensembl ENST00000373371 ENSP00000362469; ENSG00000136856 # ExpressionAtlas Q9NY64 baseline and differential # FUNCTION GTR8_HUMAN Insulin-regulated facilitative glucose transporter. Binds cytochalasin B in a glucose-inhibitable manner. Seems to be a dual-specific sugar transporter as it is inhibitable by fructose (By similarity). {ECO 0000250}. # GO_component GO:0005765 lysosomal membrane; IDA:UniProtKB. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0008021 synaptic vesicle; IEA:Ensembl. # GO_component GO:0030659 cytoplasmic vesicle membrane; IEA:UniProtKB-SubCell. # GO_function GO:0005355 glucose transmembrane transporter activity; TAS:ProtInc. # GO_function GO:0005536 glucose binding; IEA:Ensembl. # GO_function GO:0055056 D-glucose transmembrane transporter activity; TAS:Reactome. # GO_function GTR8_HUMAN GO 0005351 sugar proton symporter activity; IBA GO_Central. # GO_process GO:0001666 response to hypoxia; IEA:Ensembl. # GO_process GO:0005975 carbohydrate metabolic process; TAS:ProtInc. # GO_process GO:0007141 male meiosis I; IEA:Ensembl. # GO_process GO:0008286 insulin receptor signaling pathway; IEA:Ensembl. # GO_process GO:0015758 glucose transport; TAS:ProtInc. # GO_process GO:0046323 glucose import; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0031410 cytoplasmic vesicle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0005975 carbohydrate metabolic process # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # Genevisible Q9NY64 HS # HGNC HGNC:13812 SLC2A8 # INDUCTION GTR8_HUMAN In testis, down-regulated by estrogen. # InterPro IPR003663 Sugar/inositol_transpt # InterPro IPR005828 MFS_sugar_transport-like # InterPro IPR005829 Sugar_transporter_CS # InterPro IPR020846 MFS_dom # KEGG_Brite ko02000 Transporters # MIM 605245 gene # Organism GTR8_HUMAN Homo sapiens (Human) # PRINTS PR00171 SUGRTRNSPORT # PROSITE PS00216 SUGAR_TRANSPORT_1; 2 # PROSITE PS00217 SUGAR_TRANSPORT_2 # PROSITE PS50850 MFS # Pfam PF00083 Sugar_tr # Proteomes UP000005640 Chromosome 9 # Reactome R-HSA-428790 Facilitative Na+-independent glucose transporters # Reactome R-HSA-8856825 Cargo recognition for clathrin-mediated endocytosis # Reactome R-HSA-8856828 Clathrin-mediated endocytosis # RecName GTR8_HUMAN Solute carrier family 2, facilitated glucose transporter member 8 # RefSeq NP_001258640 NM_001271711.1 # RefSeq NP_001258641 NM_001271712.1 # RefSeq NP_055395 NM_014580.4 # SIMILARITY Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION GTR8_HUMAN Cell membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. Cytoplasmic vesicle membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. Note=Principally intracellular. May move between intracellular vesicles and the plasma membrane. The dileucine internalization motif is critical for intracellular sequestration (By similarity). {ECO 0000250}. # SUBUNIT Interacts with AP2B1. {ECO 0000250}. # SUPFAM SSF103473 SSF103473; 2 # TCDB 2.A.1.1.89 the major facilitator superfamily (mfs) # TIGRFAMs TIGR00879 SP # TISSUE SPECIFICITY GTR8_HUMAN Highly expressed in testis, but not in testicular carcinoma. Lower amounts present in most other tissues. # UCSC uc004bqu human # eggNOG ENOG410XNQK LUCA # eggNOG KOG0254 Eukaryota BLAST swissprot:GTR8_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:GTR8_HUMAN BioCyc ZFISH:ENSG00000136856-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000136856-MONOMER COXPRESdb 29988 http://coxpresdb.jp/data/gene/29988.shtml CleanEx HS_SLC2A8 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC2A8 DOI 10.1038/nature02465 http://dx.doi.org/10.1038/nature02465 DOI 10.1074/jbc.275.21.16275 http://dx.doi.org/10.1074/jbc.275.21.16275 DOI 10.1074/jbc.275.7.4607 http://dx.doi.org/10.1074/jbc.275.7.4607 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AJ245937 http://www.ebi.ac.uk/ena/data/view/AJ245937 EMBL AL445222 http://www.ebi.ac.uk/ena/data/view/AL445222 EMBL BC019043 http://www.ebi.ac.uk/ena/data/view/BC019043 EMBL CH471090 http://www.ebi.ac.uk/ena/data/view/CH471090 EMBL Y17801 http://www.ebi.ac.uk/ena/data/view/Y17801 Ensembl ENST00000373371 http://www.ensembl.org/id/ENST00000373371 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005765 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005765 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0008021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008021 GO_component GO:0030659 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030659 GO_function GO:0005351 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005351 GO_function GO:0005355 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005355 GO_function GO:0005536 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005536 GO_function GO:0055056 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055056 GO_process GO:0001666 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001666 GO_process GO:0005975 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005975 GO_process GO:0007141 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007141 GO_process GO:0008286 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008286 GO_process GO:0015758 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015758 GO_process GO:0046323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046323 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0031410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0005975 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005975 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GeneCards SLC2A8 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC2A8 GeneID 29988 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=29988 GeneTree ENSGT00850000132274 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00850000132274 HGNC HGNC:13812 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:13812 HOGENOM HOG000202868 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000202868&db=HOGENOM6 HOVERGEN HBG104335 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG104335&db=HOVERGEN HPA HPA011935 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA011935 InParanoid Q9NY64 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9NY64 InterPro IPR003663 http://www.ebi.ac.uk/interpro/entry/IPR003663 InterPro IPR005828 http://www.ebi.ac.uk/interpro/entry/IPR005828 InterPro IPR005829 http://www.ebi.ac.uk/interpro/entry/IPR005829 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 29988 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=29988 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Gene hsa:29988 http://www.genome.jp/dbget-bin/www_bget?hsa:29988 KEGG_Orthology KO:K08145 http://www.genome.jp/dbget-bin/www_bget?KO:K08145 MIM 605245 http://www.ncbi.nlm.nih.gov/omim/605245 OMA HRHQEAM http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=HRHQEAM OrthoDB EOG091G1600 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G1600 PRINTS PR00171 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00171 PROSITE PS00216 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00216 PROSITE PS00217 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00217 PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PSORT swissprot:GTR8_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:GTR8_HUMAN PSORT-B swissprot:GTR8_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:GTR8_HUMAN PSORT2 swissprot:GTR8_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:GTR8_HUMAN Pfam PF00083 http://pfam.xfam.org/family/PF00083 PharmGKB PA37813 http://www.pharmgkb.org/do/serve?objId=PA37813&objCls=Gene Phobius swissprot:GTR8_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:GTR8_HUMAN PhylomeDB Q9NY64 http://phylomedb.org/?seqid=Q9NY64 ProteinModelPortal Q9NY64 http://www.proteinmodelportal.org/query/uniprot/Q9NY64 PubMed 10671487 http://www.ncbi.nlm.nih.gov/pubmed/10671487 PubMed 10821868 http://www.ncbi.nlm.nih.gov/pubmed/10821868 PubMed 15164053 http://www.ncbi.nlm.nih.gov/pubmed/15164053 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 Reactome R-HSA-428790 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-428790 Reactome R-HSA-8856825 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-8856825 Reactome R-HSA-8856828 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-8856828 RefSeq NP_001258640 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001258640 RefSeq NP_001258641 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001258641 RefSeq NP_055395 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_055395 STRING 9606.ENSP00000362469 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000362469&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.1.1.89 http://www.tcdb.org/search/result.php?tc=2.A.1.1.89 TIGRFAMs TIGR00879 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00879 UCSC uc004bqu http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc004bqu&org=rat UniGene Hs.179522 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.179522 UniProtKB GTR8_HUMAN http://www.uniprot.org/uniprot/GTR8_HUMAN UniProtKB-AC Q9NY64 http://www.uniprot.org/uniprot/Q9NY64 charge swissprot:GTR8_HUMAN http://rest.g-language.org/emboss/charge/swissprot:GTR8_HUMAN eggNOG ENOG410XNQK http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XNQK eggNOG KOG0254 http://eggnogapi.embl.de/nog_data/html/tree/KOG0254 epestfind swissprot:GTR8_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:GTR8_HUMAN garnier swissprot:GTR8_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:GTR8_HUMAN helixturnhelix swissprot:GTR8_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:GTR8_HUMAN hmoment swissprot:GTR8_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:GTR8_HUMAN iep swissprot:GTR8_HUMAN http://rest.g-language.org/emboss/iep/swissprot:GTR8_HUMAN inforesidue swissprot:GTR8_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:GTR8_HUMAN neXtProt NX_Q9NY64 http://www.nextprot.org/db/entry/NX_Q9NY64 octanol swissprot:GTR8_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:GTR8_HUMAN pepcoil swissprot:GTR8_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:GTR8_HUMAN pepdigest swissprot:GTR8_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:GTR8_HUMAN pepinfo swissprot:GTR8_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:GTR8_HUMAN pepnet swissprot:GTR8_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:GTR8_HUMAN pepstats swissprot:GTR8_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:GTR8_HUMAN pepwheel swissprot:GTR8_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:GTR8_HUMAN pepwindow swissprot:GTR8_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:GTR8_HUMAN sigcleave swissprot:GTR8_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:GTR8_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS AQP3_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q92482-1; Sequence=Displayed; Name=2; Synonyms=delta5; IsoId=Q92482-2; Sequence=VSP_003229, VSP_003230; Note=Due to a polymorphism at the 5'-splice donor site of intron 5, leading to exon 5 skipping and premature termination of translation. This is the molecular basis of the GIL blood group.; # AltName AQP3_HUMAN Aquaglyceroporin-3 # BioGrid 106856 3 # CCDS CCDS6542 -. [Q92482-1] # CDD cd00333 MIP # ChiTaRS AQP3 human # DOMAIN AQP3_HUMAN Aquaporins contain two tandem repeats each containing three membrane-spanning domains and a pore-forming loop with the signature motif Asn-Pro-Ala (NPA). # Ensembl ENST00000297991 ENSP00000297991; ENSG00000165272. [Q92482-1] # FUNCTION AQP3_HUMAN Water channel required to promote glycerol permeability and water transport across cell membranes. Acts as a glycerol transporter in skin and plays an important role in regulating SC (stratum corneum) and epidermal glycerol content. Involved in skin hydration, wound healing, and tumorigenesis. Provides kidney medullary collecting duct with high permeability to water, thereby permitting water to move in the direction of an osmotic gradient. Slightly permeable to urea and may function as a water and urea exit mechanism in antidiuresis in collecting duct cells. It may play an important role in gastrointestinal tract water transport and in glycerol metabolism (By similarity). {ECO 0000250}. # GO_component GO:0005634 nucleus; IDA:HPA. # GO_component GO:0005737 cytoplasm; IDA:UniProtKB. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0005911 cell-cell junction; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; IC:BHF-UCL. # GO_component GO:0016323 basolateral plasma membrane; IEA:UniProtKB-SubCell. # GO_function GO:0005215 transporter activity; NAS:ProtInc. # GO_function GO:0015204 urea transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015250 water channel activity; TAS:BHF-UCL. # GO_function GO:0015254 glycerol channel activity; IDA:BHF-UCL. # GO_process GO:0002684 positive regulation of immune system process; IDA:BHF-UCL. # GO_process GO:0003091 renal water homeostasis; TAS:Reactome. # GO_process GO:0006810 transport; NAS:ProtInc. # GO_process GO:0006833 water transport; TAS:BHF-UCL. # GO_process GO:0007588 excretion; TAS:ProtInc. # GO_process GO:0009992 cellular water homeostasis; IBA:GO_Central. # GO_process GO:0032526 response to retinoic acid; IDA:BHF-UCL. # GO_process GO:0033280 response to vitamin D; TAS:BHF-UCL. # GO_process GO:0034220 ion transmembrane transport; IBA:GO_Central. # GO_process GO:0042476 odontogenesis; IEP:UniProtKB. # GO_process GO:0045616 regulation of keratinocyte differentiation; TAS:BHF-UCL. # GO_process GO:0051592 response to calcium ion; TAS:BHF-UCL. # GO_process GO:0070295 renal water absorption; IEA:Ensembl. # GO_process GO:0071918 urea transmembrane transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.20.1080.10 -; 1. # Genevisible Q92482 HS # HGNC HGNC:636 AQP3 # INDUCTION Up-regulated by magnesium. {ECO:0000269|PubMed 18495115}. # IntAct Q92482 3 # InterPro IPR000425 MIP # InterPro IPR022357 MIP_CS # InterPro IPR023271 Aquaporin-like # InterPro IPR023275 Aquaporin_3 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04962 Vasopressin-regulated water reabsorption # MIM 600170 gene # MIM 607457 phenotype # Organism AQP3_HUMAN Homo sapiens (Human) # PANTHER PTHR19139 PTHR19139 # PIR A57119 A57119 # POLYMORPHISM AQP3_HUMAN AQP3 is responsible for the GIL blood group system. Isoform 2 is detected in GIL-negative individuals that lack functional AQP3. # PRINTS PR00783 MINTRINSICP # PRINTS PR02015 AQUAPORIN3 # PROSITE PS00221 MIP # Pfam PF00230 MIP # Proteomes UP000005640 Chromosome 9 # Reactome R-HSA-432040 Vasopressin regulates renal water homeostasis via Aquaporins # Reactome R-HSA-432047 Passive transport by Aquaporins # RecName AQP3_HUMAN Aquaporin-3 # RefSeq NP_001305073 NM_001318144.1 # RefSeq NP_004916 NM_004925.4. [Q92482-1] # SIMILARITY Belongs to the MIP/aquaporin (TC 1.A.8) family. {ECO 0000305}. # SUBCELLULAR LOCATION AQP3_HUMAN Basolateral cell membrane; Multi-pass membrane protein. Note=In collecting ducts of kidney. # SUPFAM SSF81338 SSF81338 # TIGRFAMs TIGR00861 MIP # TISSUE SPECIFICITY AQP3_HUMAN Widely expressed in epithelial cells of kidney (collecting ducts) and airways, in keratinocytes, immature dendritic cells and erythrocytes. Isoform 2 is not detectable in erythrocytes at the protein level. # UCSC uc003zsx human. [Q92482-1] # WEB RESOURCE AQP3_HUMAN Name=SeattleSNPs; URL="http //pga.gs.washington.edu/data/aqp3/"; # WEB RESOURCE AQP3_HUMAN Name=dbRBC/BGMUT; Note=Blood group antigen gene mutation database; URL="https //www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/systems_info&system=gil"; # eggNOG COG0580 LUCA # eggNOG KOG0224 Eukaryota BLAST swissprot:AQP3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:AQP3_HUMAN BioCyc ZFISH:ENSG00000165272-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000165272-MONOMER COXPRESdb 360 http://coxpresdb.jp/data/gene/360.shtml CleanEx HS_AQP3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_AQP3 DOI 10.1006/geno.1995.1055 http://dx.doi.org/10.1006/geno.1995.1055 DOI 10.1016/j.ejphar.2008.03.063 http://dx.doi.org/10.1016/j.ejphar.2008.03.063 DOI 10.1038/nature02465 http://dx.doi.org/10.1038/nature02465 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.M208999200 http://dx.doi.org/10.1074/jbc.M208999200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AB001325 http://www.ebi.ac.uk/ena/data/view/AB001325 EMBL AJ493597 http://www.ebi.ac.uk/ena/data/view/AJ493597 EMBL AK292208 http://www.ebi.ac.uk/ena/data/view/AK292208 EMBL AK315760 http://www.ebi.ac.uk/ena/data/view/AK315760 EMBL AL356218 http://www.ebi.ac.uk/ena/data/view/AL356218 EMBL BC013566 http://www.ebi.ac.uk/ena/data/view/BC013566 EMBL BT007199 http://www.ebi.ac.uk/ena/data/view/BT007199 EMBL CH471071 http://www.ebi.ac.uk/ena/data/view/CH471071 EMBL CH471071 http://www.ebi.ac.uk/ena/data/view/CH471071 EMBL CR541991 http://www.ebi.ac.uk/ena/data/view/CR541991 EMBL CR542025 http://www.ebi.ac.uk/ena/data/view/CR542025 EMBL DQ083949 http://www.ebi.ac.uk/ena/data/view/DQ083949 Ensembl ENST00000297991 http://www.ensembl.org/id/ENST00000297991 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0005911 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005911 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0016323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016323 GO_function GO:0005215 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005215 GO_function GO:0015204 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015204 GO_function GO:0015250 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015250 GO_function GO:0015254 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015254 GO_process GO:0002684 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002684 GO_process GO:0003091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003091 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0006833 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006833 GO_process GO:0007588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007588 GO_process GO:0009992 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009992 GO_process GO:0032526 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032526 GO_process GO:0033280 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033280 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0042476 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042476 GO_process GO:0045616 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045616 GO_process GO:0051592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051592 GO_process GO:0070295 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070295 GO_process GO:0071918 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071918 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.20.1080.10 http://www.cathdb.info/version/latest/superfamily/1.20.1080.10 GeneCards AQP3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=AQP3 GeneID 360 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=360 GeneTree ENSGT00510000046311 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00510000046311 HGNC HGNC:636 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:636 HOGENOM HOG000288287 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000288287&db=HOGENOM6 HOVERGEN HBG106057 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG106057&db=HOVERGEN HPA HPA014924 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA014924 InParanoid Q92482 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q92482 IntAct Q92482 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q92482* InterPro IPR000425 http://www.ebi.ac.uk/interpro/entry/IPR000425 InterPro IPR022357 http://www.ebi.ac.uk/interpro/entry/IPR022357 InterPro IPR023271 http://www.ebi.ac.uk/interpro/entry/IPR023271 InterPro IPR023275 http://www.ebi.ac.uk/interpro/entry/IPR023275 Jabion 360 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=360 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:360 http://www.genome.jp/dbget-bin/www_bget?hsa:360 KEGG_Orthology KO:K09876 http://www.genome.jp/dbget-bin/www_bget?KO:K09876 KEGG_Pathway ko04962 http://www.genome.jp/kegg-bin/show_pathway?ko04962 MIM 600170 http://www.ncbi.nlm.nih.gov/omim/600170 MIM 607457 http://www.ncbi.nlm.nih.gov/omim/607457 OMA LDMINGF http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=LDMINGF OrthoDB EOG091G0FMS http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0FMS PANTHER PTHR19139 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR19139 PRINTS PR00783 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00783 PRINTS PR02015 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR02015 PROSITE PS00221 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00221 PSORT swissprot:AQP3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:AQP3_HUMAN PSORT-B swissprot:AQP3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:AQP3_HUMAN PSORT2 swissprot:AQP3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:AQP3_HUMAN Pfam PF00230 http://pfam.xfam.org/family/PF00230 PharmGKB PA24921 http://www.pharmgkb.org/do/serve?objId=PA24921&objCls=Gene Phobius swissprot:AQP3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:AQP3_HUMAN PhylomeDB Q92482 http://phylomedb.org/?seqid=Q92482 ProteinModelPortal Q92482 http://www.proteinmodelportal.org/query/uniprot/Q92482 PubMed 12239222 http://www.ncbi.nlm.nih.gov/pubmed/12239222 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15164053 http://www.ncbi.nlm.nih.gov/pubmed/15164053 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 18495115 http://www.ncbi.nlm.nih.gov/pubmed/18495115 PubMed 7558005 http://www.ncbi.nlm.nih.gov/pubmed/7558005 Reactome R-HSA-432040 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-432040 Reactome R-HSA-432047 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-432047 RefSeq NP_001305073 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001305073 RefSeq NP_004916 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004916 STRING 9606.ENSP00000297991 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000297991&targetmode=cogs SUPFAM SSF81338 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81338 TIGRFAMs TIGR00861 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00861 UCSC uc003zsx http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003zsx&org=rat UniGene Hs.234642 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.234642 UniProtKB AQP3_HUMAN http://www.uniprot.org/uniprot/AQP3_HUMAN UniProtKB-AC Q92482 http://www.uniprot.org/uniprot/Q92482 charge swissprot:AQP3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:AQP3_HUMAN eggNOG COG0580 http://eggnogapi.embl.de/nog_data/html/tree/COG0580 eggNOG KOG0224 http://eggnogapi.embl.de/nog_data/html/tree/KOG0224 epestfind swissprot:AQP3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:AQP3_HUMAN garnier swissprot:AQP3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:AQP3_HUMAN helixturnhelix swissprot:AQP3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:AQP3_HUMAN hmoment swissprot:AQP3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:AQP3_HUMAN iep swissprot:AQP3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:AQP3_HUMAN inforesidue swissprot:AQP3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:AQP3_HUMAN neXtProt NX_Q92482 http://www.nextprot.org/db/entry/NX_Q92482 octanol swissprot:AQP3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:AQP3_HUMAN pepcoil swissprot:AQP3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:AQP3_HUMAN pepdigest swissprot:AQP3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:AQP3_HUMAN pepinfo swissprot:AQP3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:AQP3_HUMAN pepnet swissprot:AQP3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:AQP3_HUMAN pepstats swissprot:AQP3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:AQP3_HUMAN pepwheel swissprot:AQP3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:AQP3_HUMAN pepwindow swissprot:AQP3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:AQP3_HUMAN sigcleave swissprot:AQP3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:AQP3_HUMAN ## Database ID URL or Descriptions # AltName KCNA1_HUMAN Voltage-gated potassium channel subunit Kv1.1 # AltName Voltage-gated K(+) channel HuKI {ECO:0000303|PubMed 19912772} # AltName Voltage-gated potassium channel HBK1 {ECO:0000303|PubMed 2128063} # BioGrid 109939 7 # ChiTaRS KCNA1 human # DISEASE KCNA1_HUMAN Episodic ataxia 1 (EA1) [MIM 160120] An autosomal dominant disorder characterized by brief episodes of ataxia and dysarthria. Neurological examination during and between the attacks demonstrates spontaneous, repetitive discharges in the distal musculature (myokymia) that arise from peripheral nerve. Nystagmus is absent. {ECO 0000269|PubMed 10355668, ECO 0000269|PubMed 11013453, ECO 0000269|PubMed 11026449, ECO 0000269|PubMed 15532032, ECO 0000269|PubMed 7842011, ECO 0000269|PubMed 8541859, ECO 0000269|PubMed 8871592, ECO 0000269|PubMed 9600245}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE KCNA1_HUMAN Myokymia isolated 1 (MK1) [MIM 160120] A condition characterized by spontaneous involuntary contraction of muscle fiber groups that can be observed as vermiform movement of the overlying skin. Electromyography typically shows continuous motor unit activity with spontaneous oligo- and multiplet-discharges of high intraburst frequency (myokymic discharges). Isolated spontaneous muscle twitches occur in many persons and have no grave significance. {ECO 0000269|PubMed 11026449, ECO 0000269|PubMed 17136396, ECO 0000269|PubMed 19307729}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DOMAIN KCNA1_HUMAN The cytoplasmic N-terminus is important for tetramerization and for interaction with the beta subunits that promote rapid channel closure. {ECO 0000250|UniProtKB P10499}. # DOMAIN KCNA1_HUMAN The transmembrane segment S4 functions as voltage-sensor and is characterized by a series of positively charged amino acids at every third position. Channel opening and closing is effected by a conformation change that affects the position and orientation of the voltage-sensor paddle formed by S3 and S4 within the membrane. A transmembrane electric field that is positive inside would push the positively charged S4 segment outwards, thereby opening the pore, while a field that is negative inside would pull the S4 segment inwards and close the pore. Changes in the position and orientation of S4 are then transmitted to the activation gate formed by the inner helix bundle via the S4-S5 linker region. {ECO 0000250|UniProtKB P63142}. # DrugBank DB00228 Enflurane # DrugBank DB00321 Amitriptyline # DrugBank DB00753 Isoflurane # DrugBank DB01028 Methoxyflurane # DrugBank DB01115 Nifedipine # DrugBank DB01189 Desflurane # DrugBank DB01236 Sevoflurane # DrugBank DB06637 Dalfampridine # ENZYME REGULATION KCNA1_HUMAN Inhibited by 1.1 mM 4-aminopyridine (4-AP) and by 20 mM tetraethylammonium (TEA), but not by charybdotoxin (CTX)(PubMed 19912772). Inhibited by dendrotoxin (DTX) (PubMed 19307729). {ECO 0000269|PubMed 19307729, ECO 0000269|PubMed 19912772}. # Ensembl ENST00000382545 ENSP00000371985; ENSG00000111262 # FUNCTION KCNA1_HUMAN Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes, primarily in the brain and the central nervous system, but also in the kidney (PubMed 19903818). Contributes to the regulation of the membrane potential and nerve signaling, and prevents neuronal hyperexcitability (PubMed 17156368). Forms tetrameric potassium- selective channels through which potassium ions pass in accordance with their electrochemical gradient. The channel alternates between opened and closed conformations in response to the voltage difference across the membrane (PubMed 19912772). Can form functional homotetrameric channels and heterotetrameric channels that contain variable proportions of KCNA1, KCNA2, KCNA4, KCNA5, KCNA6, KCNA7, and possibly other family members as well; channel properties depend on the type of alpha subunits that are part of the channel (PubMed 12077175, PubMed 17156368). Channel properties are modulated by cytoplasmic beta subunits that regulate the subcellular location of the alpha subunits and promote rapid inactivation of delayed rectifier potassium channels (PubMed 12077175, PubMed 17156368). In vivo, membranes probably contain a mixture of heteromeric potassium channel complexes, making it difficult to assign currents observed in intact tissues to any particular potassium channel family member. Homotetrameric KCNA1 forms a delayed-rectifier potassium channel that opens in response to membrane depolarization, followed by slow spontaneous channel closure (PubMed 19912772, PubMed 19968958, PubMed 19307729, PubMed 19903818). In contrast, a heterotetrameric channel formed by KCNA1 and KCNA4 shows rapid inactivation (PubMed 17156368). Regulates neuronal excitability in hippocampus, especially in mossy fibers and medial perforant path axons, preventing neuronal hyperexcitability. Response to toxins that are selective for KCNA1, respectively for KCNA2, suggests that heteromeric potassium channels composed of both KCNA1 and KCNA2 play a role in pacemaking and regulate the output of deep cerebellar nuclear neurons (By similarity). May function as down- stream effector for G protein-coupled receptors and inhibit GABAergic inputs to basolateral amygdala neurons (By similarity). May contribute to the regulation of neurotransmitter release, such as gamma-aminobutyric acid (GABA) release (By similarity). Plays a role in regulating the generation of action potentials and preventing hyperexcitability in myelinated axons of the vagus nerve, and thereby contributes to the regulation of heart contraction (By similarity). Required for normal neuromuscular responses (PubMed 11026449, PubMed 17136396). Regulates the frequency of neuronal action potential firing in response to mechanical stimuli, and plays a role in the perception of pain caused by mechanical stimuli, but does not play a role in the perception of pain due to heat stimuli (By similarity). Required for normal responses to auditory stimuli and precise location of sound sources, but not for sound perception (By similarity). The use of toxins that block specific channels suggest that it contributes to the regulation of the axonal release of the neurotransmitter dopamine (By similarity). Required for normal postnatal brain development and normal proliferation of neuronal precursor cells in the brain (By similarity). Plays a role in the reabsorption of Mg(2+) in the distal convoluted tubules in the kidney and in magnesium ion homeostasis, probably via its effect on the membrane potential (PubMed 23903368, PubMed 19307729). {ECO 0000250|UniProtKB P10499, ECO 0000269|PubMed 11026449, ECO 0000269|PubMed 12077175, ECO 0000269|PubMed 15837928, ECO 0000269|PubMed 17136396, ECO 0000269|PubMed 17156368, ECO 0000269|PubMed 19307729, ECO 0000269|PubMed 19903818, ECO 0000269|PubMed 19912772, ECO 0000269|PubMed 19968958, ECO 0000269|PubMed 21106501, ECO 0000269|PubMed 23903368}. # GO_component GO:0005783 endoplasmic reticulum; ISS:UniProtKB. # GO_component GO:0005829 cytosol; ISS:UniProtKB. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IDA:UniProtKB. # GO_component GO:0008076 voltage-gated potassium channel complex; IDA:UniProtKB. # GO_component GO:0009986 cell surface; IEA:Ensembl. # GO_component GO:0016023 cytoplasmic, membrane-bounded vesicle; IEA:UniProtKB-SubCell. # GO_component GO:0016324 apical plasma membrane; IEA:Ensembl. # GO_component GO:0030054 cell junction; ISS:UniProtKB. # GO_component GO:0030425 dendrite; ISS:UniProtKB. # GO_component GO:0033270 paranode region of axon; IDA:UniProtKB. # GO_component GO:0042734 presynaptic membrane; ISS:UniProtKB. # GO_component GO:0043025 neuronal cell body; ISS:UniProtKB. # GO_component GO:0043204 perikaryon; IEA:UniProtKB-SubCell. # GO_component GO:0043679 axon terminus; ISS:UniProtKB. # GO_component GO:0044224 juxtaparanode region of axon; IDA:UniProtKB. # GO_component GO:0045202 synapse; ISS:UniProtKB. # GO_function GO:0005249 voltage-gated potassium channel activity; IDA:UniProtKB. # GO_function GO:0005251 delayed rectifier potassium channel activity; IDA:UniProtKB. # GO_function GO:0005267 potassium channel activity; TAS:ProtInc. # GO_function GO:0015079 potassium ion transmembrane transporter activity; TAS:ProtInc. # GO_process GO:0001964 startle response; IEA:Ensembl. # GO_process GO:0006813 potassium ion transport; TAS:ProtInc. # GO_process GO:0006937 regulation of muscle contraction; ISS:UniProtKB. # GO_process GO:0007268 chemical synaptic transmission; TAS:ProtInc. # GO_process GO:0007405 neuroblast proliferation; IEA:Ensembl. # GO_process GO:0010644 cell communication by electrical coupling; ISS:UniProtKB. # GO_process GO:0010960 magnesium ion homeostasis; IMP:UniProtKB. # GO_process GO:0019228 neuronal action potential; ISS:UniProtKB. # GO_process GO:0021766 hippocampus development; IEA:Ensembl. # GO_process GO:0023041 neuronal signal transduction; ISS:UniProtKB. # GO_process GO:0034613 cellular protein localization; IEA:Ensembl. # GO_process GO:0042391 regulation of membrane potential; IMP:UniProtKB. # GO_process GO:0050905 neuromuscular process; IMP:UniProtKB. # GO_process GO:0050966 detection of mechanical stimulus involved in sensory perception of pain; ISS:UniProtKB. # GO_process GO:0050976 detection of mechanical stimulus involved in sensory perception of touch; ISS:UniProtKB. # GO_process GO:0051260 protein homooligomerization; IEA:InterPro. # GO_process GO:0071286 cellular response to magnesium ion; ISS:UniProtKB. # GO_process GO:0071805 potassium ion transmembrane transport; IMP:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_component GO:0005829 cytosol # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # GOslim_process GO:0008283 cell proliferation # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0050877 neurological system process # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.20.120.350 -; 1. # Genevisible Q09470 HS # HGNC HGNC:6218 KCNA1 # INTERACTION KCNA1_HUMAN Q62936 Dlg3 (xeno); NbExp=2; IntAct=EBI-8286599, EBI-349596; P78352 DLG4; NbExp=2; IntAct=EBI-8286599, EBI-80389; # IntAct Q09470 9 # InterPro IPR000210 BTB/POZ_dom # InterPro IPR003131 T1-type_BTB # InterPro IPR003968 K_chnl_volt-dep_Kv # InterPro IPR003972 K_chnl_volt-dep_Kv1 # InterPro IPR004048 K_chnl_volt-dep_Kv1.1 # InterPro IPR005821 Ion_trans_dom # InterPro IPR011333 SKP1/BTB/POZ # InterPro IPR027359 Channel_four-helix_dom # InterPro IPR028325 VG_K_chnl # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00749 [Nervous system disease] Episodic ataxias # MIM 160120 phenotype # MIM 176260 gene # MISCELLANEOUS The delay or D-type current observed in hippocampus pyramidal neurons is probably mediated by potassium channels containing KCNA2 plus KCNA1 or other family members. It is activated at about -50 mV, i.e. below the action potential threshold, and is characterized by slow inactivation, extremely slow recovery from inactivation, sensitivity to dendrotoxin (DTX) and to 4-aminopyridine (4-AP). {ECO:0000305|PubMed 17917103}. # Organism KCNA1_HUMAN Homo sapiens (Human) # Orphanet 199326 Isolated autosomal dominant hypomagnesemia, Glaudemans type # Orphanet 37612 Episodic ataxia type 1 # Orphanet 972 Hereditary continuous muscle fiber activity # PANTHER PTHR11537 PTHR11537 # PDB 2AFL Model; -; A/B/C/D=326-407 # PIR I57680 I57680 # PRINTS PR00169 KCHANNEL # PRINTS PR01491 KVCHANNEL # PRINTS PR01496 SHAKERCHANEL # PRINTS PR01508 KV11CHANNEL # PTM KCNA1_HUMAN N-glycosylated. {ECO 0000250|UniProtKB P10499}. # PTM KCNA1_HUMAN Palmitoylated on Cys-243; which may be required for membrane targeting. {ECO 0000269|PubMed 15837928}. # PTM KCNA1_HUMAN Phosphorylated on tyrosine residues. Phosphorylation increases in response to NRG1; this inhibits channel activity (By similarity). Phosphorylation at Ser-446 regulates channel activity by down-regulating expression at the cell membrane (PubMed 23774215). {ECO 0000250|UniProtKB P16388, ECO 0000269|PubMed 23774215}. # Pfam PF00520 Ion_trans # Pfam PF02214 BTB_2 # Proteomes UP000005640 Chromosome 12 # RNA EDITING Modified_positions=400 {ECO:0000269|PubMed 12907802}; Note=Partially edited. RNA editing varies from 17% in the caudate nucleus to 68% in the spinal cord and to 77% in the medulla.; # Reactome R-HSA-1296072 Voltage gated Potassium channels # RecName KCNA1_HUMAN Potassium voltage-gated channel subfamily A member 1 # RefSeq NP_000208 NM_000217.2 # SIMILARITY Belongs to the potassium channel family. A (Shaker) (TC 1.A.1.2) subfamily. Kv1.1/KCNA1 sub-subfamily. {ECO 0000305}. # SMART SM00225 BTB # SUBCELLULAR LOCATION KCNA1_HUMAN Cell membrane {ECO 0000269|PubMed 12077175, ECO 0000269|PubMed 15837928, ECO 0000269|PubMed 17136396, ECO 0000269|PubMed 17156368, ECO 0000269|PubMed 19307729, ECO 0000269|PubMed 19903818, ECO 0000269|PubMed 19912772, ECO 0000269|PubMed 19968958, ECO 0000269|PubMed 23903368}; Multi- pass membrane protein {ECO 0000305}. Membrane {ECO 0000269|PubMed 11086297}. Cell projection, axon {ECO 0000269|PubMed 11086297}. Cytoplasmic vesicle {ECO 0000269|PubMed 23774215}. Perikaryon {ECO 0000250|UniProtKB P10499}. Endoplasmic reticulum {ECO 0000250|UniProtKB P10499}. Cell projection, dendrite {ECO 0000250|UniProtKB P16388}. Cell junction {ECO 0000250|UniProtKB P16388}. Cell junction, synapse {ECO 0000250|UniProtKB P16388}. Cell junction, synapse, presynaptic cell membrane {ECO 0000250|UniProtKB P10499}. Note=Homotetrameric KCNA1 is primarily located in the endoplasmic reticulum. Interaction with KCNA2 and KCNAB2 or with KCNA4 and KCNAB2 promotes expression at the cell membrane (By similarity). Detected at axon terminals (By similarity). {ECO 0000250|UniProtKB P10499, ECO 0000250|UniProtKB P16388}. # SUBUNIT KCNA1_HUMAN Homotetramer and heterotetramer with other channel- forming alpha subunits, such as KCNA2, KCNA4, KCNA5, KCNA6 and KCNA7 (PubMed 12077175, PubMed 17156368). Channel activity is regulated by interaction with the beta subunits KCNAB1 and KCNAB2 (PubMed 12077175, PubMed 17156368). Identified in a complex with KCNA2 and KCNAB2 (PubMed 11086297). Interacts (via C-terminus) with the PDZ domains of DLG1, DLG2 and DLG4 (By similarity). Interacts with LGI1 within a complex containing LGI1, KCNA4 and KCNAB1 (By similarity). Interacts (via N-terminus) with STX1A; this promotes channel inactivation (By similarity). Interacts (via N-terminus) with the heterodimer formed by GNB1 and GNG2; this promotes channel inactivation (By similarity). Can interact simultaneously with STX1A and the heterodimer formed by GNB1 and GNG2 (By similarity). Interacts (via cytoplasmic N-terminal domain) with KCNRG; this inhibits channel activity (PubMed 19968958). Interacts with ANK3; this inhibits channel activity (PubMed 23903368). {ECO 0000250|UniProtKB P10499, ECO 0000269|PubMed 11086297, ECO 0000269|PubMed 17156368, ECO 0000269|PubMed 19968958, ECO 0000269|PubMed 23903368, ECO 0000305}. # SUPFAM SSF54695 SSF54695 # TCDB 1.A.1.2.12 the voltage-gated ion channel (vic) superfamily # TISSUE SPECIFICITY KCNA1_HUMAN Detected adjacent to nodes of Ranvier in juxtaparanodal zones in spinal cord nerve fibers, but also in paranodal regions in some myelinated spinal cord axons (at protein level) (PubMed 11086297). Detected in the islet of Langerhans (PubMed 21483673). {ECO 0000269|PubMed 11086297, ECO 0000269|PubMed 21483673}. # UCSC uc001qnh human # eggNOG COG1226 LUCA # eggNOG KOG1545 Eukaryota BLAST swissprot:KCNA1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCNA1_HUMAN BioCyc ZFISH:ENSG00000111262-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000111262-MONOMER COXPRESdb 3736 http://coxpresdb.jp/data/gene/3736.shtml CleanEx HS_KCNA1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNA1 DOI 10.1002/1096-9861(20000101)429:1<166::AID-CNE13>3.0.CO http://dx.doi.org/10.1002/1096-9861(20000101)429:1<166::AID-CNE13>3.0.CO DOI 10.1002/1098-1004(200010)16:4<374::AID-HUMU15>3.3.CO http://dx.doi.org/10.1002/1098-1004(200010)16:4<374::AID-HUMU15>3.3.CO DOI 10.1002/1531-8249(200010)48:4<647::AID-ANA12>3.3.CO http://dx.doi.org/10.1002/1531-8249(200010)48:4<647::AID-ANA12>3.3.CO DOI 10.1002/ana.410400422 http://dx.doi.org/10.1002/ana.410400422 DOI 10.1002/humu.9295 http://dx.doi.org/10.1002/humu.9295 DOI 10.1007/s004390050722 http://dx.doi.org/10.1007/s004390050722 DOI 10.1007/s10048-006-0071-z http://dx.doi.org/10.1007/s10048-006-0071-z DOI 10.1007/s12035-007-8001-0 http://dx.doi.org/10.1007/s12035-007-8001-0 DOI 10.1016/0896-6273(95)90022-5 http://dx.doi.org/10.1016/0896-6273(95)90022-5 DOI 10.1016/1044-7431(90)90004-N http://dx.doi.org/10.1016/1044-7431(90)90004-N DOI 10.1016/j.bbrc.2009.11.143 http://dx.doi.org/10.1016/j.bbrc.2009.11.143 DOI 10.1038/ki.2013.280 http://dx.doi.org/10.1038/ki.2013.280 DOI 10.1038/nature04569 http://dx.doi.org/10.1038/nature04569 DOI 10.1038/ng1094-136 http://dx.doi.org/10.1038/ng1094-136 DOI 10.1073/pnas.0501999102 http://dx.doi.org/10.1073/pnas.0501999102 DOI 10.1074/jbc.M109.041517 http://dx.doi.org/10.1074/jbc.M109.041517 DOI 10.1093/brain/122.5.817 http://dx.doi.org/10.1093/brain/122.5.817 DOI 10.1093/brain/awq318 http://dx.doi.org/10.1093/brain/awq318 DOI 10.1093/hmg/4.9.1671 http://dx.doi.org/10.1093/hmg/4.9.1671 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1460-9568.2006.05186.x http://dx.doi.org/10.1111/j.1460-9568.2006.05186.x DOI 10.1126/science.1086763 http://dx.doi.org/10.1126/science.1086763 DOI 10.1158/0008-5472.CAN-12-3690 http://dx.doi.org/10.1158/0008-5472.CAN-12-3690 DOI 10.1172/JCI36948 http://dx.doi.org/10.1172/JCI36948 DOI 10.1371/journal.pone.0018213 http://dx.doi.org/10.1371/journal.pone.0018213 DrugBank DB00228 http://www.drugbank.ca/drugs/DB00228 DrugBank DB00321 http://www.drugbank.ca/drugs/DB00321 DrugBank DB00753 http://www.drugbank.ca/drugs/DB00753 DrugBank DB01028 http://www.drugbank.ca/drugs/DB01028 DrugBank DB01115 http://www.drugbank.ca/drugs/DB01115 DrugBank DB01189 http://www.drugbank.ca/drugs/DB01189 DrugBank DB01236 http://www.drugbank.ca/drugs/DB01236 DrugBank DB06637 http://www.drugbank.ca/drugs/DB06637 EMBL AC006063 http://www.ebi.ac.uk/ena/data/view/AC006063 EMBL BC101733 http://www.ebi.ac.uk/ena/data/view/BC101733 EMBL BC112180 http://www.ebi.ac.uk/ena/data/view/BC112180 EMBL CH471116 http://www.ebi.ac.uk/ena/data/view/CH471116 EMBL L02750 http://www.ebi.ac.uk/ena/data/view/L02750 Ensembl ENST00000382545 http://www.ensembl.org/id/ENST00000382545 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0008076 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008076 GO_component GO:0009986 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009986 GO_component GO:0016023 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016023 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0030425 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030425 GO_component GO:0033270 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033270 GO_component GO:0042734 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042734 GO_component GO:0043025 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043025 GO_component GO:0043204 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043204 GO_component GO:0043679 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043679 GO_component GO:0044224 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044224 GO_component GO:0045202 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045202 GO_function GO:0005249 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005249 GO_function GO:0005251 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005251 GO_function GO:0005267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005267 GO_function GO:0015079 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015079 GO_process GO:0001964 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001964 GO_process GO:0006813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006813 GO_process GO:0006937 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006937 GO_process GO:0007268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007268 GO_process GO:0007405 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007405 GO_process GO:0010644 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010644 GO_process GO:0010960 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010960 GO_process GO:0019228 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019228 GO_process GO:0021766 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021766 GO_process GO:0023041 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0023041 GO_process GO:0034613 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034613 GO_process GO:0042391 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042391 GO_process GO:0050905 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050905 GO_process GO:0050966 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050966 GO_process GO:0050976 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050976 GO_process GO:0051260 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051260 GO_process GO:0071286 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071286 GO_process GO:0071805 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071805 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0008283 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008283 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.20.120.350 http://www.cathdb.info/version/latest/superfamily/1.20.120.350 GeneCards KCNA1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNA1 GeneID 3736 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=3736 GeneTree ENSGT00760000118846 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118846 HGNC HGNC:6218 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6218 HOGENOM HOG000231015 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231015&db=HOGENOM6 HOVERGEN HBG052230 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052230&db=HOVERGEN HPA CAB022365 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB022365 InParanoid Q09470 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q09470 IntAct Q09470 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q09470* InterPro IPR000210 http://www.ebi.ac.uk/interpro/entry/IPR000210 InterPro IPR003131 http://www.ebi.ac.uk/interpro/entry/IPR003131 InterPro IPR003968 http://www.ebi.ac.uk/interpro/entry/IPR003968 InterPro IPR003972 http://www.ebi.ac.uk/interpro/entry/IPR003972 InterPro IPR004048 http://www.ebi.ac.uk/interpro/entry/IPR004048 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR011333 http://www.ebi.ac.uk/interpro/entry/IPR011333 InterPro IPR027359 http://www.ebi.ac.uk/interpro/entry/IPR027359 InterPro IPR028325 http://www.ebi.ac.uk/interpro/entry/IPR028325 Jabion 3736 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=3736 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00749 http://www.genome.jp/dbget-bin/www_bget?H00749 KEGG_Gene hsa:3736 http://www.genome.jp/dbget-bin/www_bget?hsa:3736 KEGG_Orthology KO:K04874 http://www.genome.jp/dbget-bin/www_bget?KO:K04874 MIM 160120 http://www.ncbi.nlm.nih.gov/omim/160120 MIM 176260 http://www.ncbi.nlm.nih.gov/omim/176260 MINT MINT-1900397 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1900397 OMA IHRIDNT http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=IHRIDNT Orphanet 199326 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=199326 Orphanet 37612 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=37612 Orphanet 972 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=972 OrthoDB EOG091G10NU http://cegg.unige.ch/orthodb/results?searchtext=EOG091G10NU PANTHER PTHR11537 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11537 PDB 2AFL http://www.ebi.ac.uk/pdbe-srv/view/entry/2AFL PDBsum 2AFL http://www.ebi.ac.uk/pdbsum/2AFL PRINTS PR00169 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00169 PRINTS PR01491 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01491 PRINTS PR01496 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01496 PRINTS PR01508 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01508 PSORT swissprot:KCNA1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCNA1_HUMAN PSORT-B swissprot:KCNA1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCNA1_HUMAN PSORT2 swissprot:KCNA1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCNA1_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF02214 http://pfam.xfam.org/family/PF02214 PharmGKB PA30019 http://www.pharmgkb.org/do/serve?objId=PA30019&objCls=Gene Phobius swissprot:KCNA1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCNA1_HUMAN PhylomeDB Q09470 http://phylomedb.org/?seqid=Q09470 ProteinModelPortal Q09470 http://www.proteinmodelportal.org/query/uniprot/Q09470 PubMed 10355668 http://www.ncbi.nlm.nih.gov/pubmed/10355668 PubMed 11013453 http://www.ncbi.nlm.nih.gov/pubmed/11013453 PubMed 11026449 http://www.ncbi.nlm.nih.gov/pubmed/11026449 PubMed 11086297 http://www.ncbi.nlm.nih.gov/pubmed/11086297 PubMed 12077175 http://www.ncbi.nlm.nih.gov/pubmed/12077175 PubMed 12907802 http://www.ncbi.nlm.nih.gov/pubmed/12907802 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15532032 http://www.ncbi.nlm.nih.gov/pubmed/15532032 PubMed 15837928 http://www.ncbi.nlm.nih.gov/pubmed/15837928 PubMed 16541075 http://www.ncbi.nlm.nih.gov/pubmed/16541075 PubMed 17136396 http://www.ncbi.nlm.nih.gov/pubmed/17136396 PubMed 17156368 http://www.ncbi.nlm.nih.gov/pubmed/17156368 PubMed 17917103 http://www.ncbi.nlm.nih.gov/pubmed/17917103 PubMed 19307729 http://www.ncbi.nlm.nih.gov/pubmed/19307729 PubMed 19903818 http://www.ncbi.nlm.nih.gov/pubmed/19903818 PubMed 19912772 http://www.ncbi.nlm.nih.gov/pubmed/19912772 PubMed 19968958 http://www.ncbi.nlm.nih.gov/pubmed/19968958 PubMed 21106501 http://www.ncbi.nlm.nih.gov/pubmed/21106501 PubMed 2128063 http://www.ncbi.nlm.nih.gov/pubmed/2128063 PubMed 21483673 http://www.ncbi.nlm.nih.gov/pubmed/21483673 PubMed 23774215 http://www.ncbi.nlm.nih.gov/pubmed/23774215 PubMed 23903368 http://www.ncbi.nlm.nih.gov/pubmed/23903368 PubMed 7842011 http://www.ncbi.nlm.nih.gov/pubmed/7842011 PubMed 8541859 http://www.ncbi.nlm.nih.gov/pubmed/8541859 PubMed 8845167 http://www.ncbi.nlm.nih.gov/pubmed/8845167 PubMed 8871592 http://www.ncbi.nlm.nih.gov/pubmed/8871592 PubMed 9600245 http://www.ncbi.nlm.nih.gov/pubmed/9600245 Reactome R-HSA-1296072 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1296072 RefSeq NP_000208 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000208 SMART SM00225 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00225 SMR Q09470 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q09470 STRING 9606.ENSP00000371985 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000371985&targetmode=cogs SUPFAM SSF54695 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF54695 TCDB 1.A.1.2.12 http://www.tcdb.org/search/result.php?tc=1.A.1.2.12 UCSC uc001qnh http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001qnh&org=rat UniGene Hs.416139 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.416139 UniProtKB KCNA1_HUMAN http://www.uniprot.org/uniprot/KCNA1_HUMAN UniProtKB-AC Q09470 http://www.uniprot.org/uniprot/Q09470 charge swissprot:KCNA1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCNA1_HUMAN eggNOG COG1226 http://eggnogapi.embl.de/nog_data/html/tree/COG1226 eggNOG KOG1545 http://eggnogapi.embl.de/nog_data/html/tree/KOG1545 epestfind swissprot:KCNA1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCNA1_HUMAN garnier swissprot:KCNA1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCNA1_HUMAN helixturnhelix swissprot:KCNA1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCNA1_HUMAN hmoment swissprot:KCNA1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCNA1_HUMAN iep swissprot:KCNA1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCNA1_HUMAN inforesidue swissprot:KCNA1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCNA1_HUMAN neXtProt NX_Q09470 http://www.nextprot.org/db/entry/NX_Q09470 octanol swissprot:KCNA1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCNA1_HUMAN pepcoil swissprot:KCNA1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCNA1_HUMAN pepdigest swissprot:KCNA1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCNA1_HUMAN pepinfo swissprot:KCNA1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCNA1_HUMAN pepnet swissprot:KCNA1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCNA1_HUMAN pepstats swissprot:KCNA1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCNA1_HUMAN pepwheel swissprot:KCNA1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCNA1_HUMAN pepwindow swissprot:KCNA1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCNA1_HUMAN sigcleave swissprot:KCNA1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCNA1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS CLIC6_HUMAN Event=Alternative splicing; Named isoforms=2; Name=B; IsoId=Q96NY7-1; Sequence=Displayed; Name=A; IsoId=Q96NY7-2; Sequence=VSP_008963; # AltName CLIC6_HUMAN Parchorin # BioGrid 119900 4 # CCDS CCDS13638 -. [Q96NY7-2] # CCDS CCDS82669 -. [Q96NY7-1] # ChiTaRS CLIC6 human # DOMAIN CLIC6_HUMAN Members of this family may change from a globular, soluble state to a state where the N-terminal domain is inserted into the membrane and functions as chloride channel. A conformation change of the N-terminal domain is thought to expose hydrophobic surfaces that trigger membrane insertion (By similarity). {ECO 0000250}. # Ensembl ENST00000349499 ENSP00000290332; ENSG00000159212. [Q96NY7-2] # Ensembl ENST00000360731 ENSP00000353959; ENSG00000159212. [Q96NY7-1] # FUNCTION CLIC6_HUMAN May insert into membranes and form chloride ion channels. May play a critical role in water-secreting cells, possibly through the regulation of chloride ion transport (By similarity). {ECO 0000250}. # GO_component GO:0005737 cytoplasm; IBA:GO_Central. # GO_component GO:0005886 plasma membrane; IEA:UniProtKB-SubCell. # GO_component GO:0034707 chloride channel complex; IEA:UniProtKB-KW. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0005244 voltage-gated ion channel activity; IEA:UniProtKB-KW. # GO_function GO:0005254 chloride channel activity; IBA:GO_Central. # GO_process GO:1902476 chloride transmembrane transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.20.1050.10 -; 1. # Gene3D 3.40.30.10 -; 1. # Genevisible Q96NY7 HS # HGNC HGNC:2065 CLIC6 # InterPro IPR002946 CLIC # InterPro IPR010987 Glutathione-S-Trfase_C-like # InterPro IPR012336 Thioredoxin-like_fold # InterPro IPR030263 CLIC-6 # KEGG_Brite ko04040 Ion channels # MIM 615321 gene # Organism CLIC6_HUMAN Homo sapiens (Human) # PANTHER PTHR11260:SF142 PTHR11260:SF142; 3 # PRINTS PR01263 INTCLCHANNEL # PROSITE PS50405 GST_CTER # PTM CLIC6_HUMAN Phosphorylated. {ECO 0000250}. # Proteomes UP000005640 Chromosome 21 # RecName CLIC6_HUMAN Chloride intracellular channel protein 6 # RefSeq NP_001303938 NM_001317009.1. [Q96NY7-1] # RefSeq NP_444507 NM_053277.2. [Q96NY7-2] # SEQUENCE CAUTION Sequence=BAC03959.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the chloride channel CLIC family. {ECO 0000305}. # SIMILARITY Contains 1 GST C-terminal domain. {ECO 0000305}. # SUBCELLULAR LOCATION CLIC6_HUMAN Cytoplasm {ECO 0000250}. Cell membrane {ECO 0000250}; Single-pass membrane protein {ECO 0000250}. Note=Predominantly cytoplasmic. Upon chloride ion efflux from the cell, it is translocated to the plasma membrane (By similarity). {ECO 0000250}. # SUBUNIT Interacts with dopamine receptors DRD2, DRD3 and DRD4. {ECO 0000250}. # SUPFAM SSF47616 SSF47616 # SUPFAM SSF52833 SSF52833 # TCDB 1.A.12.1 the intracellular chloride channel (clic) family # TIGRFAMs TIGR00862 O-ClC # TISSUE SPECIFICITY Expressed in brain, placenta, pancreas and liver. {ECO:0000269|PubMed 12226712}. # UCSC uc002yuf human. [Q96NY7-1] # eggNOG ENOG410ZRK6 LUCA # eggNOG KOG1422 Eukaryota BLAST swissprot:CLIC6_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CLIC6_HUMAN BioCyc ZFISH:ENSG00000159212-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000159212-MONOMER COXPRESdb 54102 http://coxpresdb.jp/data/gene/54102.shtml CleanEx HS_CLIC6 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CLIC6 DOI 10.1007/s00335-001-2157-0 http://dx.doi.org/10.1007/s00335-001-2157-0 DOI 10.1016/S0378-1119(03)00830-8 http://dx.doi.org/10.1016/S0378-1119(03)00830-8 DOI 10.1038/35012518 http://dx.doi.org/10.1038/35012518 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AF426169 http://www.ebi.ac.uk/ena/data/view/AF426169 EMBL AF448438 http://www.ebi.ac.uk/ena/data/view/AF448438 EMBL AF448439 http://www.ebi.ac.uk/ena/data/view/AF448439 EMBL AK092733 http://www.ebi.ac.uk/ena/data/view/AK092733 EMBL AK289663 http://www.ebi.ac.uk/ena/data/view/AK289663 EMBL AP001720 http://www.ebi.ac.uk/ena/data/view/AP001720 EMBL BC040196 http://www.ebi.ac.uk/ena/data/view/BC040196 EMBL CH471079 http://www.ebi.ac.uk/ena/data/view/CH471079 Ensembl ENST00000349499 http://www.ensembl.org/id/ENST00000349499 Ensembl ENST00000360731 http://www.ensembl.org/id/ENST00000360731 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0034707 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034707 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0005244 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005244 GO_function GO:0005254 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005254 GO_process GO:1902476 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902476 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.20.1050.10 http://www.cathdb.info/version/latest/superfamily/1.20.1050.10 Gene3D 3.40.30.10 http://www.cathdb.info/version/latest/superfamily/3.40.30.10 GeneCards CLIC6 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CLIC6 GeneID 54102 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=54102 GeneTree ENSGT00550000074477 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074477 H-InvDB HIX0016092 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0016092 HGNC HGNC:2065 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:2065 HOGENOM HOG000013008 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000013008&db=HOGENOM6 HOVERGEN HBG050996 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050996&db=HOVERGEN HPA HPA055123 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA055123 HPA HPA065285 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA065285 InParanoid Q96NY7 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q96NY7 InterPro IPR002946 http://www.ebi.ac.uk/interpro/entry/IPR002946 InterPro IPR010987 http://www.ebi.ac.uk/interpro/entry/IPR010987 InterPro IPR012336 http://www.ebi.ac.uk/interpro/entry/IPR012336 InterPro IPR030263 http://www.ebi.ac.uk/interpro/entry/IPR030263 Jabion 54102 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=54102 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:54102 http://www.genome.jp/dbget-bin/www_bget?hsa:54102 KEGG_Orthology KO:K05026 http://www.genome.jp/dbget-bin/www_bget?KO:K05026 MIM 615321 http://www.ncbi.nlm.nih.gov/omim/615321 OMA PGQEHDI http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=PGQEHDI OrthoDB EOG091G0IHT http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0IHT PANTHER PTHR11260:SF142 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11260:SF142 PRINTS PR01263 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01263 PROSITE PS50405 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50405 PSORT swissprot:CLIC6_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CLIC6_HUMAN PSORT-B swissprot:CLIC6_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CLIC6_HUMAN PSORT2 swissprot:CLIC6_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CLIC6_HUMAN PharmGKB PA26593 http://www.pharmgkb.org/do/serve?objId=PA26593&objCls=Gene Phobius swissprot:CLIC6_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CLIC6_HUMAN PhylomeDB Q96NY7 http://phylomedb.org/?seqid=Q96NY7 ProteinModelPortal Q96NY7 http://www.proteinmodelportal.org/query/uniprot/Q96NY7 PubMed 10830953 http://www.ncbi.nlm.nih.gov/pubmed/10830953 PubMed 12226712 http://www.ncbi.nlm.nih.gov/pubmed/12226712 PubMed 14597386 http://www.ncbi.nlm.nih.gov/pubmed/14597386 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 RefSeq NP_001303938 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001303938 RefSeq NP_444507 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_444507 SMR Q96NY7 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q96NY7 STRING 9606.ENSP00000290332 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000290332&targetmode=cogs SUPFAM SSF47616 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF47616 SUPFAM SSF52833 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52833 TCDB 1.A.12.1 http://www.tcdb.org/search/result.php?tc=1.A.12.1 TIGRFAMs TIGR00862 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00862 UCSC uc002yuf http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002yuf&org=rat UniGene Hs.473695 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.473695 UniProtKB CLIC6_HUMAN http://www.uniprot.org/uniprot/CLIC6_HUMAN UniProtKB-AC Q96NY7 http://www.uniprot.org/uniprot/Q96NY7 charge swissprot:CLIC6_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CLIC6_HUMAN eggNOG ENOG410ZRK6 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410ZRK6 eggNOG KOG1422 http://eggnogapi.embl.de/nog_data/html/tree/KOG1422 epestfind swissprot:CLIC6_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CLIC6_HUMAN garnier swissprot:CLIC6_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CLIC6_HUMAN helixturnhelix swissprot:CLIC6_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CLIC6_HUMAN hmoment swissprot:CLIC6_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CLIC6_HUMAN iep swissprot:CLIC6_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CLIC6_HUMAN inforesidue swissprot:CLIC6_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CLIC6_HUMAN neXtProt NX_Q96NY7 http://www.nextprot.org/db/entry/NX_Q96NY7 octanol swissprot:CLIC6_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CLIC6_HUMAN pepcoil swissprot:CLIC6_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CLIC6_HUMAN pepdigest swissprot:CLIC6_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CLIC6_HUMAN pepinfo swissprot:CLIC6_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CLIC6_HUMAN pepnet swissprot:CLIC6_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CLIC6_HUMAN pepstats swissprot:CLIC6_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CLIC6_HUMAN pepwheel swissprot:CLIC6_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CLIC6_HUMAN pepwindow swissprot:CLIC6_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CLIC6_HUMAN sigcleave swissprot:CLIC6_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CLIC6_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS AT2A3_HUMAN Event=Alternative splicing; Named isoforms=7; Comment=The same names have been attributed to different isoforms.; Name=SERCA3B; IsoId=Q93084-1; Sequence=Displayed; Name=SERCA3A; Synonyms=HuS3-II; IsoId=Q93084-2; Sequence=VSP_000364; Name=SERCA3C; Synonyms=HuS3-IV; IsoId=Q93084-3; Sequence=VSP_000366; Name=SERCA3G; Synonyms=HuS3-I; IsoId=Q93084-4; Sequence=VSP_000365; Name=SERCA3E; IsoId=Q93084-5; Sequence=VSP_000367; Name=SERCA3D; IsoId=Q93084-6; Sequence=VSP_000368; Name=SERCA3F; IsoId=Q93084-7; Sequence=VSP_042296; # AltName AT2A3_HUMAN Calcium pump 3 # BioGrid 106979 49 # CATALYTIC ACTIVITY AT2A3_HUMAN ATP + H(2)O + Ca(2+)(Side 1) = ADP + phosphate + Ca(2+)(Side 2). # CCDS CCDS11041 -. [Q93084-1] # CCDS CCDS11042 -. [Q93084-5] # CCDS CCDS42234 -. [Q93084-3] # CCDS CCDS45579 -. [Q93084-2] # CCDS CCDS45580 -. [Q93084-4] # ChiTaRS ATP2A3 human # ENZYME REGULATION AT2A3_HUMAN Inhibited by sarcolipin (SLN), phospholamban (PLN) and myoregulin (MRLN) (By similarity). Enhanced by DWORF; DWORF increases activity by displacing sarcolipin (SLN), phospholamban (PLN) and myoregulin (MRLN) (By similarity). {ECO 0000250|UniProtKB P04191, ECO 0000250|UniProtKB Q8R429}. # Ensembl ENST00000309890 ENSP00000312577; ENSG00000074370. [Q93084-3] # Ensembl ENST00000352011 ENSP00000301387; ENSG00000074370. [Q93084-1] # Ensembl ENST00000359983 ENSP00000353072; ENSG00000074370. [Q93084-5] # Ensembl ENST00000397035 ENSP00000380229; ENSG00000074370. [Q93084-3] # Ensembl ENST00000397041 ENSP00000380234; ENSG00000074370. [Q93084-2] # Ensembl ENST00000397043 ENSP00000380236; ENSG00000074370. [Q93084-4] # ExpressionAtlas Q93084 baseline and differential # FUNCTION AT2A3_HUMAN This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium. Transports calcium ions from the cytosol into the sarcoplasmic/endoplasmic reticulum lumen. Contributes to calcium sequestration involved in muscular excitation/contraction. {ECO 0000269|PubMed 11956212, ECO 0000269|PubMed 15028735}. # GO_component GO:0005783 endoplasmic reticulum; IDA:UniProtKB. # GO_component GO:0005789 endoplasmic reticulum membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0016529 sarcoplasmic reticulum; IDA:UniProtKB. # GO_component GO:0031095 platelet dense tubular network membrane; TAS:Reactome. # GO_component GO:0031965 nuclear membrane; IEA:UniProtKB-SubCell. # GO_component GO:0033017 sarcoplasmic reticulum membrane; IBA:GO_Central. # GO_function GO:0005388 calcium-transporting ATPase activity; TAS:Reactome. # GO_function GO:0005524 ATP binding; IEA:UniProtKB-KW. # GO_function GO:0046872 metal ion binding; IEA:UniProtKB-KW. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0006816 calcium ion transport; TAS:UniProtKB. # GO_process GO:0006874 cellular calcium ion homeostasis; IBA:GO_Central. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:1903779 regulation of cardiac conduction; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.20.1110.10 -; 2. # Gene3D 2.70.150.10 -; 2. # Gene3D 3.40.1110.10 -; 1. # Genevisible Q93084 HS # HGNC HGNC:813 ATP2A3 # IntAct Q93084 6 # InterPro IPR001757 P_typ_ATPase # InterPro IPR004014 ATPase_P-typ_cation-transptr_N # InterPro IPR005782 P-type_ATPase_IIA # InterPro IPR006068 ATPase_P-typ_cation-transptr_C # InterPro IPR008250 ATPase_P-typ_transduc_dom_A # InterPro IPR018303 ATPase_P-typ_P_site # InterPro IPR023214 HAD-like_dom # InterPro IPR023298 ATPase_P-typ_TM_dom # InterPro IPR023299 ATPase_P-typ_cyto_domN # InterPro IPR030330 SERCA3 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko01000 Enzymes # KEGG_Pathway ko04020 Calcium signaling pathway # KEGG_Pathway ko04972 Pancreatic secretion # KEGG_Pathway ko05010 Alzheimer's disease # MIM 601929 gene # Organism AT2A3_HUMAN Homo sapiens (Human) # PANTHER PTHR24093:SF295 PTHR24093:SF295; 2 # PIR I55399 I55399 # PIR S72267 S72267 # PRINTS PR00120 HATPASE # PROSITE PS00154 ATPASE_E1_E2 # Pfam PF00122 E1-E2_ATPase # Pfam PF00689 Cation_ATPase_C # Pfam PF00690 Cation_ATPase_N # Pfam PF08282 Hydrolase_3 # Proteomes UP000005640 Chromosome 17 # Reactome R-HSA-1912420 Pre-NOTCH Processing in Golgi # Reactome R-HSA-418359 Reduction of cytosolic Ca++ levels # Reactome R-HSA-5578775 Ion homeostasis # Reactome R-HSA-936837 Ion transport by P-type ATPases # RecName AT2A3_HUMAN Sarcoplasmic/endoplasmic reticulum calcium ATPase 3 # RefSeq NP_005164 NM_005173.3. [Q93084-2] # RefSeq NP_777613 NM_174953.2. [Q93084-5] # RefSeq NP_777614 NM_174954.2. [Q93084-6] # RefSeq NP_777615 NM_174955.2. [Q93084-1] # RefSeq NP_777616 NM_174956.2. [Q93084-3] # RefSeq NP_777617 NM_174957.2. [Q93084-4] # RefSeq NP_777618 NM_174958.2. [Q93084-3] # SIMILARITY Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIA subfamily. {ECO 0000305}. # SMART SM00831 Cation_ATPase_N # SUBCELLULAR LOCATION AT2A3_HUMAN Nucleus membrane {ECO 0000269|PubMed 15028735}; Multi-pass membrane protein {ECO 0000269|PubMed 15028735}. Endoplasmic reticulum membrane {ECO 0000269|PubMed 15028735}; Multi-pass membrane protein {ECO 0000269|PubMed 15028735}. Sarcoplasmic reticulum membrane {ECO 0000269|PubMed 15028735}; Multi-pass membrane protein {ECO 0000269|PubMed 15028735}. # SUBUNIT AT2A3_HUMAN Interacts with sarcolipin (SLN) (By similarity). Interacts with phospholamban (PLN) (By similarity). Interacts with myoregulin (MRLN). Interacts with DWORF (By similarity). {ECO 0000250|UniProtKB P04191, ECO 0000250|UniProtKB Q8R429}. # SUPFAM SSF56784 SSF56784 # SUPFAM SSF81660 SSF81660 # TIGRFAMs TIGR01116 ATPase-IIA1_Ca # TIGRFAMs TIGR01494 ATPase_P-type; 2 # TISSUE SPECIFICITY AT2A3_HUMAN Found in most tissues. Most abundant in thymus, trachea, salivary gland, spleen, bone marrow, lymph node, peripheral leukocytes, pancreas and colon. Also detected in fetal tissues. Expressed in cell lineages of hematopoietic, epithelial, or embryonic origin and also expressed in several cancer cell lines. {ECO 0000269|PubMed 11956212, ECO 0000269|PubMed 15028735}. # UCSC uc002fwx human. [Q93084-1] # eggNOG COG0474 LUCA # eggNOG KOG0202 Eukaryota BLAST swissprot:AT2A3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:AT2A3_HUMAN BioCyc ZFISH:HS01138-MONOMER http://biocyc.org/getid?id=ZFISH:HS01138-MONOMER COXPRESdb 489 http://coxpresdb.jp/data/gene/489.shtml CleanEx HS_ATP2A3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ATP2A3 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature04689 http://dx.doi.org/10.1038/nature04689 DOI 10.1038/nbt810 http://dx.doi.org/10.1038/nbt810 DOI 10.1042/bj3180689 http://dx.doi.org/10.1042/bj3180689 DOI 10.1074/jbc.273.22.13982 http://dx.doi.org/10.1074/jbc.273.22.13982 DOI 10.1074/jbc.M202011200 http://dx.doi.org/10.1074/jbc.M202011200 DOI 10.1074/jbc.M314286200 http://dx.doi.org/10.1074/jbc.M314286200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1133427 http://dx.doi.org/10.1126/science.1133427 DOI 10.1126/scisignal.2000007 http://dx.doi.org/10.1126/scisignal.2000007 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EC_number EC:3.6.3.8 http://www.genome.jp/dbget-bin/www_bget?EC:3.6.3.8 EMBL AC005940 http://www.ebi.ac.uk/ena/data/view/AC005940 EMBL AF068220 http://www.ebi.ac.uk/ena/data/view/AF068220 EMBL AF068221 http://www.ebi.ac.uk/ena/data/view/AF068221 EMBL AF458228 http://www.ebi.ac.uk/ena/data/view/AF458228 EMBL AF458229 http://www.ebi.ac.uk/ena/data/view/AF458229 EMBL AY460339 http://www.ebi.ac.uk/ena/data/view/AY460339 EMBL BC035729 http://www.ebi.ac.uk/ena/data/view/BC035729 EMBL CH471108 http://www.ebi.ac.uk/ena/data/view/CH471108 EMBL CH471108 http://www.ebi.ac.uk/ena/data/view/CH471108 EMBL CH471108 http://www.ebi.ac.uk/ena/data/view/CH471108 EMBL S68239 http://www.ebi.ac.uk/ena/data/view/S68239 EMBL Y15724 http://www.ebi.ac.uk/ena/data/view/Y15724 EMBL Y15725 http://www.ebi.ac.uk/ena/data/view/Y15725 EMBL Y15726 http://www.ebi.ac.uk/ena/data/view/Y15726 EMBL Y15727 http://www.ebi.ac.uk/ena/data/view/Y15727 EMBL Y15728 http://www.ebi.ac.uk/ena/data/view/Y15728 EMBL Y15729 http://www.ebi.ac.uk/ena/data/view/Y15729 EMBL Y15730 http://www.ebi.ac.uk/ena/data/view/Y15730 EMBL Y15737 http://www.ebi.ac.uk/ena/data/view/Y15737 EMBL Y15738 http://www.ebi.ac.uk/ena/data/view/Y15738 EMBL Z69880 http://www.ebi.ac.uk/ena/data/view/Z69880 EMBL Z69881 http://www.ebi.ac.uk/ena/data/view/Z69881 ENZYME 3.6.3.8 http://enzyme.expasy.org/EC/3.6.3.8 Ensembl ENST00000309890 http://www.ensembl.org/id/ENST00000309890 Ensembl ENST00000352011 http://www.ensembl.org/id/ENST00000352011 Ensembl ENST00000359983 http://www.ensembl.org/id/ENST00000359983 Ensembl ENST00000397035 http://www.ensembl.org/id/ENST00000397035 Ensembl ENST00000397041 http://www.ensembl.org/id/ENST00000397041 Ensembl ENST00000397043 http://www.ensembl.org/id/ENST00000397043 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GO_component GO:0005789 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005789 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016529 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016529 GO_component GO:0031095 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031095 GO_component GO:0031965 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031965 GO_component GO:0033017 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033017 GO_function GO:0005388 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005388 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0046872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046872 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0006816 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006816 GO_process GO:0006874 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006874 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:1903779 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903779 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.20.1110.10 http://www.cathdb.info/version/latest/superfamily/1.20.1110.10 Gene3D 2.70.150.10 http://www.cathdb.info/version/latest/superfamily/2.70.150.10 Gene3D 3.40.1110.10 http://www.cathdb.info/version/latest/superfamily/3.40.1110.10 GeneCards ATP2A3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ATP2A3 GeneID 489 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=489 GeneTree ENSGT00850000132256 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00850000132256 HGNC HGNC:813 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:813 HOGENOM HOG000078632 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000078632&db=HOGENOM6 HOVERGEN HBG105648 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG105648&db=HOVERGEN HPA CAB010882 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB010882 HPA HPA007180 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA007180 InParanoid Q93084 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q93084 IntAct Q93084 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q93084* IntEnz 3.6.3.8 http://www.ebi.ac.uk/intenz/query?cmd=Search&q=3.6.3.8 InterPro IPR001757 http://www.ebi.ac.uk/interpro/entry/IPR001757 InterPro IPR004014 http://www.ebi.ac.uk/interpro/entry/IPR004014 InterPro IPR005782 http://www.ebi.ac.uk/interpro/entry/IPR005782 InterPro IPR006068 http://www.ebi.ac.uk/interpro/entry/IPR006068 InterPro IPR008250 http://www.ebi.ac.uk/interpro/entry/IPR008250 InterPro IPR018303 http://www.ebi.ac.uk/interpro/entry/IPR018303 InterPro IPR023214 http://www.ebi.ac.uk/interpro/entry/IPR023214 InterPro IPR023298 http://www.ebi.ac.uk/interpro/entry/IPR023298 InterPro IPR023299 http://www.ebi.ac.uk/interpro/entry/IPR023299 InterPro IPR030330 http://www.ebi.ac.uk/interpro/entry/IPR030330 Jabion 489 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=489 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Gene hsa:489 http://www.genome.jp/dbget-bin/www_bget?hsa:489 KEGG_Orthology KO:K05853 http://www.genome.jp/dbget-bin/www_bget?KO:K05853 KEGG_Pathway ko04020 http://www.genome.jp/kegg-bin/show_pathway?ko04020 KEGG_Pathway ko04972 http://www.genome.jp/kegg-bin/show_pathway?ko04972 KEGG_Pathway ko05010 http://www.genome.jp/kegg-bin/show_pathway?ko05010 MIM 601929 http://www.ncbi.nlm.nih.gov/omim/601929 OMA WSRQPLT http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=WSRQPLT OrthoDB EOG091G01LE http://cegg.unige.ch/orthodb/results?searchtext=EOG091G01LE PANTHER PTHR24093:SF295 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24093:SF295 PRINTS PR00120 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00120 PROSITE PS00154 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00154 PSORT swissprot:AT2A3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:AT2A3_HUMAN PSORT-B swissprot:AT2A3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:AT2A3_HUMAN PSORT2 swissprot:AT2A3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:AT2A3_HUMAN Pfam PF00122 http://pfam.xfam.org/family/PF00122 Pfam PF00689 http://pfam.xfam.org/family/PF00689 Pfam PF00690 http://pfam.xfam.org/family/PF00690 Pfam PF08282 http://pfam.xfam.org/family/PF08282 PharmGKB PA25106 http://www.pharmgkb.org/do/serve?objId=PA25106&objCls=Gene Phobius swissprot:AT2A3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:AT2A3_HUMAN PhylomeDB Q93084 http://phylomedb.org/?seqid=Q93084 ProteinModelPortal Q93084 http://www.proteinmodelportal.org/query/uniprot/Q93084 PubMed 11956212 http://www.ncbi.nlm.nih.gov/pubmed/11956212 PubMed 12665801 http://www.ncbi.nlm.nih.gov/pubmed/12665801 PubMed 15028735 http://www.ncbi.nlm.nih.gov/pubmed/15028735 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16625196 http://www.ncbi.nlm.nih.gov/pubmed/16625196 PubMed 16959974 http://www.ncbi.nlm.nih.gov/pubmed/16959974 PubMed 19690332 http://www.ncbi.nlm.nih.gov/pubmed/19690332 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 8288608 http://www.ncbi.nlm.nih.gov/pubmed/8288608 PubMed 8809064 http://www.ncbi.nlm.nih.gov/pubmed/8809064 PubMed 9593748 http://www.ncbi.nlm.nih.gov/pubmed/9593748 PubMed 9843705 http://www.ncbi.nlm.nih.gov/pubmed/9843705 Reactome R-HSA-1912420 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1912420 Reactome R-HSA-418359 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-418359 Reactome R-HSA-5578775 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5578775 Reactome R-HSA-936837 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-936837 RefSeq NP_005164 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_005164 RefSeq NP_777613 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_777613 RefSeq NP_777614 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_777614 RefSeq NP_777615 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_777615 RefSeq NP_777616 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_777616 RefSeq NP_777617 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_777617 RefSeq NP_777618 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_777618 SMART SM00831 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00831 SMR Q93084 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q93084 STRING 9606.ENSP00000353072 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000353072&targetmode=cogs SUPFAM SSF56784 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF56784 SUPFAM SSF81660 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81660 TIGRFAMs TIGR01116 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01116 TIGRFAMs TIGR01494 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01494 UCSC uc002fwx http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002fwx&org=rat UniGene Hs.513870 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.513870 UniProtKB AT2A3_HUMAN http://www.uniprot.org/uniprot/AT2A3_HUMAN UniProtKB-AC Q93084 http://www.uniprot.org/uniprot/Q93084 charge swissprot:AT2A3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:AT2A3_HUMAN eggNOG COG0474 http://eggnogapi.embl.de/nog_data/html/tree/COG0474 eggNOG KOG0202 http://eggnogapi.embl.de/nog_data/html/tree/KOG0202 epestfind swissprot:AT2A3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:AT2A3_HUMAN garnier swissprot:AT2A3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:AT2A3_HUMAN helixturnhelix swissprot:AT2A3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:AT2A3_HUMAN hmoment swissprot:AT2A3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:AT2A3_HUMAN iep swissprot:AT2A3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:AT2A3_HUMAN inforesidue swissprot:AT2A3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:AT2A3_HUMAN neXtProt NX_Q93084 http://www.nextprot.org/db/entry/NX_Q93084 octanol swissprot:AT2A3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:AT2A3_HUMAN pepcoil swissprot:AT2A3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:AT2A3_HUMAN pepdigest swissprot:AT2A3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:AT2A3_HUMAN pepinfo swissprot:AT2A3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:AT2A3_HUMAN pepnet swissprot:AT2A3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:AT2A3_HUMAN pepstats swissprot:AT2A3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:AT2A3_HUMAN pepwheel swissprot:AT2A3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:AT2A3_HUMAN pepwindow swissprot:AT2A3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:AT2A3_HUMAN sigcleave swissprot:AT2A3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:AT2A3_HUMAN ## Database ID URL or Descriptions # AltName NAC2_HUMAN Na(+)/Ca(2+)-exchange protein 2 # AltName NAC2_HUMAN Solute carrier family 8 member 2 # ChiTaRS SLC8A2 human # DOMAIN NAC2_HUMAN The cytoplasmic Calx-beta domains bind the regulatory Ca(2+). The first Calx-beta domain can bind up to four Ca(2+) ions. The second domain can bind another two Ca(2+) ions that are essential for calcium-regulated ion exchange. {ECO 0000250|UniProtKB P23685}. # ENZYME REGULATION Calcium transport is down-regulated by Na(+) and stimulated by Ca(2+). {ECO:0000250|UniProtKB P48768}. # Ensembl ENST00000236877 ENSP00000236877; ENSG00000118160 # ExpressionAtlas Q9UPR5 baseline and differential # FUNCTION NAC2_HUMAN Mediates the electrogenic exchange of Ca(2+) against Na(+) ions across the cell membrane, and thereby contributes to the regulation of cytoplasmic Ca(2+) levels and Ca(2+)-dependent cellular processes. Contributes to cellular Ca(2+) homeostasis in excitable cells. Contributes to the rapid decrease of cytoplasmic Ca(2+) levels back to baseline after neuronal activation, and thereby contributes to modulate synaptic plasticity, learning and memory. Plays a role in regulating urinary Ca(2+) and Na(+) excretion. {ECO 0000250|UniProtKB Q8K596}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; ISS:UniProtKB. # GO_component GO:0016323 basolateral plasma membrane; IEA:UniProtKB-SubCell. # GO_component GO:0043197 dendritic spine; IEA:UniProtKB-SubCell. # GO_component GO:0043204 perikaryon; IEA:UniProtKB-SubCell. # GO_function GO:0046872 metal ion binding; IEA:UniProtKB-KW. # GO_function NAC2_HUMAN GO 0005432 calcium sodium antiporter activity; ISS UniProtKB. # GO_process GO:0006811 ion transport; TAS:Reactome. # GO_process GO:0006874 cellular calcium ion homeostasis; ISS:UniProtKB. # GO_process GO:0007154 cell communication; IEA:InterPro. # GO_process GO:0007612 learning; ISS:UniProtKB. # GO_process GO:0007613 memory; ISS:UniProtKB. # GO_process GO:0035725 sodium ion transmembrane transport; ISS:UniProtKB. # GO_process GO:0048172 regulation of short-term neuronal synaptic plasticity; ISS:UniProtKB. # GO_process GO:0060291 long-term synaptic potentiation; ISS:UniProtKB. # GO_process GO:0070588 calcium ion transmembrane transport; ISS:UniProtKB. # GO_process GO:1903779 regulation of cardiac conduction; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0050877 neurological system process # GOslim_process GO:0055085 transmembrane transport # Genevisible Q9UPR5 HS # HGNC HGNC:11069 SLC8A2 # InterPro IPR003644 Calx_beta # InterPro IPR004836 Na_Ca_Ex # InterPro IPR004837 NaCa_Exmemb # InterPro IPR032452 Na_Ca_Ex_C-exten # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00536 Heparan sulfate/heparin binding proteins # KEGG_Brite ko02001 Solute carrier family # KEGG_Pathway ko04020 Calcium signaling pathway # KEGG_Pathway ko04974 Protein digestion and absorption # MIM 601901 gene # Organism NAC2_HUMAN Homo sapiens (Human) # PRINTS PR01259 NACAEXCHNGR # Pfam PF01699 Na_Ca_ex; 2 # Pfam PF03160 Calx-beta; 2 # Pfam PF16494 Na_Ca_ex_C # Proteomes UP000005640 Chromosome 19 # Reactome R-HSA-418359 Reduction of cytosolic Ca++ levels # Reactome R-HSA-425561 Sodium/Calcium exchangers # Reactome R-HSA-5578775 Ion homeostasis # RecName NAC2_HUMAN Sodium/calcium exchanger 2 # RefSeq NP_055878 NM_015063.2 # SEQUENCE CAUTION Sequence=BAA83039.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the Ca(2+):cation antiporter (CaCA) (TC 2.A.19) family. SLC8 subfamily. {ECO 0000305}. # SIMILARITY Contains 2 Calx-beta domains. {ECO 0000305}. # SMART SM00237 Calx_beta; 2 # SUBCELLULAR LOCATION NAC2_HUMAN Cell membrane {ECO 0000250|UniProtKB P48768}; Multi-pass membrane protein {ECO 0000250|UniProtKB P48768}. Basolateral cell membrane {ECO 0000250|UniProtKB Q8K596}; Multi-pass membrane protein {ECO 0000250|UniProtKB Q8K596}. Perikaryon {ECO 0000250|UniProtKB P48768}. Cell projection, dendrite {ECO 0000250|UniProtKB P48768}. Cell projection, dendritic spine {ECO 0000250|UniProtKB P48768}. # TCDB 2.A.19.3:the ca(2+) cation antiporter (caca) family # TIGRFAMs TIGR00845 caca # UCSC uc002pgx human # eggNOG ENOG410XPJP LUCA # eggNOG KOG1306 Eukaryota BLAST swissprot:NAC2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:NAC2_HUMAN BioCyc ZFISH:ENSG00000118160-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000118160-MONOMER COXPRESdb 6543 http://coxpresdb.jp/data/gene/6543.shtml CleanEx HS_SLC8A2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC8A2 DOI 10.1016/j.mam.2012.07.003 http://dx.doi.org/10.1016/j.mam.2012.07.003 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1093/dnares/6.3.197 http://dx.doi.org/10.1093/dnares/6.3.197 DOI 10.1093/hmg/ddu056 http://dx.doi.org/10.1093/hmg/ddu056 EMBL AB029010 http://www.ebi.ac.uk/ena/data/view/AB029010 EMBL AK302552 http://www.ebi.ac.uk/ena/data/view/AK302552 EMBL CH471126 http://www.ebi.ac.uk/ena/data/view/CH471126 Ensembl ENST00000236877 http://www.ensembl.org/id/ENST00000236877 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016323 GO_component GO:0043197 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043197 GO_component GO:0043204 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043204 GO_function GO:0005432 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005432 GO_function GO:0046872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046872 GO_process GO:0006811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006811 GO_process GO:0006874 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006874 GO_process GO:0007154 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007154 GO_process GO:0007612 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007612 GO_process GO:0007613 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007613 GO_process GO:0035725 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035725 GO_process GO:0048172 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048172 GO_process GO:0060291 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060291 GO_process GO:0070588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070588 GO_process GO:1903779 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903779 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC8A2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC8A2 GeneID 6543 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6543 GeneTree ENSGT00730000110414 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00730000110414 HGNC HGNC:11069 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11069 HOGENOM HOG000266971 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000266971&db=HOGENOM6 HOVERGEN HBG006441 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG006441&db=HOVERGEN HPA HPA050818 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA050818 HPA HPA054671 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA054671 InParanoid Q9UPR5 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9UPR5 InterPro IPR003644 http://www.ebi.ac.uk/interpro/entry/IPR003644 InterPro IPR004836 http://www.ebi.ac.uk/interpro/entry/IPR004836 InterPro IPR004837 http://www.ebi.ac.uk/interpro/entry/IPR004837 InterPro IPR032452 http://www.ebi.ac.uk/interpro/entry/IPR032452 Jabion 6543 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6543 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00536 http://www.genome.jp/dbget-bin/www_bget?ko00536 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:6543 http://www.genome.jp/dbget-bin/www_bget?hsa:6543 KEGG_Orthology KO:K05849 http://www.genome.jp/dbget-bin/www_bget?KO:K05849 KEGG_Pathway ko04020 http://www.genome.jp/kegg-bin/show_pathway?ko04020 KEGG_Pathway ko04974 http://www.genome.jp/kegg-bin/show_pathway?ko04974 MIM 601901 http://www.ncbi.nlm.nih.gov/omim/601901 OMA AHSQCME http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=AHSQCME OrthoDB EOG091G0EC1 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0EC1 PRINTS PR01259 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01259 PSORT swissprot:NAC2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:NAC2_HUMAN PSORT-B swissprot:NAC2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:NAC2_HUMAN PSORT2 swissprot:NAC2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:NAC2_HUMAN Pfam PF01699 http://pfam.xfam.org/family/PF01699 Pfam PF03160 http://pfam.xfam.org/family/PF03160 Pfam PF16494 http://pfam.xfam.org/family/PF16494 PharmGKB PA313 http://www.pharmgkb.org/do/serve?objId=PA313&objCls=Gene Phobius swissprot:NAC2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:NAC2_HUMAN PhylomeDB Q9UPR5 http://phylomedb.org/?seqid=Q9UPR5 ProteinModelPortal Q9UPR5 http://www.proteinmodelportal.org/query/uniprot/Q9UPR5 PubMed 10470851 http://www.ncbi.nlm.nih.gov/pubmed/10470851 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 23506867 http://www.ncbi.nlm.nih.gov/pubmed/23506867 PubMed 24501278 http://www.ncbi.nlm.nih.gov/pubmed/24501278 Reactome R-HSA-418359 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-418359 Reactome R-HSA-425561 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-425561 Reactome R-HSA-5578775 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5578775 RefSeq NP_055878 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_055878 SMART SM00237 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00237 SMR Q9UPR5 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9UPR5 STRING 9606.ENSP00000236877 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000236877&targetmode=cogs TCDB 2.A.19.3 http://www.tcdb.org/search/result.php?tc=2.A.19.3 TIGRFAMs TIGR00845 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00845 UCSC uc002pgx http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002pgx&org=rat UniGene Hs.172884 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.172884 UniProtKB NAC2_HUMAN http://www.uniprot.org/uniprot/NAC2_HUMAN UniProtKB-AC Q9UPR5 http://www.uniprot.org/uniprot/Q9UPR5 charge swissprot:NAC2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:NAC2_HUMAN eggNOG ENOG410XPJP http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XPJP eggNOG KOG1306 http://eggnogapi.embl.de/nog_data/html/tree/KOG1306 epestfind swissprot:NAC2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:NAC2_HUMAN garnier swissprot:NAC2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:NAC2_HUMAN helixturnhelix swissprot:NAC2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:NAC2_HUMAN hmoment swissprot:NAC2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:NAC2_HUMAN iep swissprot:NAC2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:NAC2_HUMAN inforesidue swissprot:NAC2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:NAC2_HUMAN neXtProt NX_Q9UPR5 http://www.nextprot.org/db/entry/NX_Q9UPR5 octanol swissprot:NAC2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:NAC2_HUMAN pepcoil swissprot:NAC2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:NAC2_HUMAN pepdigest swissprot:NAC2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:NAC2_HUMAN pepinfo swissprot:NAC2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:NAC2_HUMAN pepnet swissprot:NAC2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:NAC2_HUMAN pepstats swissprot:NAC2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:NAC2_HUMAN pepwheel swissprot:NAC2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:NAC2_HUMAN pepwindow swissprot:NAC2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:NAC2_HUMAN sigcleave swissprot:NAC2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:NAC2_HUMAN ## Database ID URL or Descriptions # Ensembl ENST00000368599 ENSP00000357588; ENSG00000178033 # FUNCTION FA26E_HUMAN Pore-forming subunit of a voltage-gated ion channel. {ECO 0000250}. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0005261 cation channel activity; IBA:GO_Central. # GO_process GO:0034220 ion transmembrane transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0043226 organelle # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0055085 transmembrane transport # Genevisible Q8N5C1 HS # HGNC HGNC:21568 FAM26E # InterPro IPR029569 FAM26 # InterPro IPR029572 FAM26E # Organism FA26E_HUMAN Homo sapiens (Human) # PANTHER PTHR32261 PTHR32261 # PANTHER PTHR32261:SF8 PTHR32261:SF8 # Pfam PF14798 Ca_hom_mod # Proteomes UP000005640 Chromosome 6 # RecName FA26E_HUMAN Protein FAM26E # RefSeq NP_714922 NM_153711.3 # SIMILARITY Belongs to the FAM26 family. {ECO 0000305}. # SUBCELLULAR LOCATION FA26E_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # UCSC uc003pwy human # eggNOG ENOG410IEDF Eukaryota # eggNOG ENOG410XQ8H LUCA BLAST swissprot:FA26E_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:FA26E_HUMAN BioCyc ZFISH:ENSG00000178033-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000178033-MONOMER COXPRESdb 254228 http://coxpresdb.jp/data/gene/254228.shtml CleanEx HS_FAM26E http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_FAM26E DOI 10.1038/nature02055 http://dx.doi.org/10.1038/nature02055 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 EMBL AK094140 http://www.ebi.ac.uk/ena/data/view/AK094140 EMBL AK315572 http://www.ebi.ac.uk/ena/data/view/AK315572 EMBL AL121953 http://www.ebi.ac.uk/ena/data/view/AL121953 EMBL CH471051 http://www.ebi.ac.uk/ena/data/view/CH471051 Ensembl ENST00000368599 http://www.ensembl.org/id/ENST00000368599 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0005261 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005261 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards FAM26E http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=FAM26E GeneID 254228 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=254228 GeneTree ENSGT00530000062796 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000062796 HGNC HGNC:21568 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:21568 HOGENOM HOG000294134 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000294134&db=HOGENOM6 HOVERGEN HBG056946 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG056946&db=HOVERGEN HPA HPA034969 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA034969 InParanoid Q8N5C1 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8N5C1 InterPro IPR029569 http://www.ebi.ac.uk/interpro/entry/IPR029569 InterPro IPR029572 http://www.ebi.ac.uk/interpro/entry/IPR029572 Jabion 254228 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=254228 KEGG_Gene hsa:254228 http://www.genome.jp/dbget-bin/www_bget?hsa:254228 OMA QKTAIGY http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=QKTAIGY OrthoDB EOG091G0BN1 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0BN1 PANTHER PTHR32261 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR32261 PANTHER PTHR32261:SF8 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR32261:SF8 PSORT swissprot:FA26E_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:FA26E_HUMAN PSORT-B swissprot:FA26E_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:FA26E_HUMAN PSORT2 swissprot:FA26E_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:FA26E_HUMAN Pfam PF14798 http://pfam.xfam.org/family/PF14798 PharmGKB PA162387635 http://www.pharmgkb.org/do/serve?objId=PA162387635&objCls=Gene Phobius swissprot:FA26E_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:FA26E_HUMAN PhylomeDB Q8N5C1 http://phylomedb.org/?seqid=Q8N5C1 ProteinModelPortal Q8N5C1 http://www.proteinmodelportal.org/query/uniprot/Q8N5C1 PubMed 14574404 http://www.ncbi.nlm.nih.gov/pubmed/14574404 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 RefSeq NP_714922 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_714922 SMR Q8N5C1 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q8N5C1 UCSC uc003pwy http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003pwy&org=rat UniGene Hs.105081 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.105081 UniGene Hs.660142 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.660142 UniProtKB FA26E_HUMAN http://www.uniprot.org/uniprot/FA26E_HUMAN UniProtKB-AC Q8N5C1 http://www.uniprot.org/uniprot/Q8N5C1 charge swissprot:FA26E_HUMAN http://rest.g-language.org/emboss/charge/swissprot:FA26E_HUMAN eggNOG ENOG410IEDF http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IEDF eggNOG ENOG410XQ8H http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XQ8H epestfind swissprot:FA26E_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:FA26E_HUMAN garnier swissprot:FA26E_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:FA26E_HUMAN helixturnhelix swissprot:FA26E_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:FA26E_HUMAN hmoment swissprot:FA26E_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:FA26E_HUMAN iep swissprot:FA26E_HUMAN http://rest.g-language.org/emboss/iep/swissprot:FA26E_HUMAN inforesidue swissprot:FA26E_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:FA26E_HUMAN neXtProt NX_Q8N5C1 http://www.nextprot.org/db/entry/NX_Q8N5C1 octanol swissprot:FA26E_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:FA26E_HUMAN pepcoil swissprot:FA26E_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:FA26E_HUMAN pepdigest swissprot:FA26E_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:FA26E_HUMAN pepinfo swissprot:FA26E_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:FA26E_HUMAN pepnet swissprot:FA26E_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:FA26E_HUMAN pepstats swissprot:FA26E_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:FA26E_HUMAN pepwheel swissprot:FA26E_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:FA26E_HUMAN pepwindow swissprot:FA26E_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:FA26E_HUMAN sigcleave swissprot:FA26E_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:FA26E_HUMAN ## Database ID URL or Descriptions # AltName CX7A1_HUMAN Cytochrome c oxidase subunit VIIa-heart # AltName CX7A1_HUMAN Cytochrome c oxidase subunit VIIa-muscle # CDD cd00928 Cyt_c_Oxidase_VIIa # ChiTaRS COX7A1 human # DrugBank DB02659 Cholic Acid # Ensembl ENST00000292907 ENSP00000292907; ENSG00000161281 # ExpressionAtlas P24310 baseline and differential # FUNCTION CX7A1_HUMAN This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport. # GO_component GO:0005739 mitochondrion; TAS:ProtInc. # GO_component GO:0005746 mitochondrial respiratory chain; IEA:InterPro. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0004129 cytochrome-c oxidase activity; TAS:ProtInc. # GO_process GO:0006091 generation of precursor metabolites and energy; TAS:ProtInc. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005739 mitochondrion # GOslim_function GO:0016491 oxidoreductase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006091 generation of precursor metabolites and energy # Gene3D 4.10.91.10 -; 1. # Genevisible P24310 HS # HGNC HGNC:2287 COX7A1 # InterPro IPR003177 Cyt_c_oxidase_su7a # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Pathway ko00190 Oxidative phosphorylation # KEGG_Pathway ko04260 Cardiac muscle contraction # KEGG_Pathway ko05010 Alzheimer's disease # KEGG_Pathway ko05012 Parkinson's disease # KEGG_Pathway ko05016 Huntington's disease # MIM 123995 gene # Organism CX7A1_HUMAN Homo sapiens (Human) # PANTHER PTHR10510 PTHR10510 # PIR JC1303 OSHU7A # Proteomes UP000005640 Chromosome 19 # RecName CX7A1_HUMAN Cytochrome c oxidase subunit 7A1, mitochondrial # RefSeq NP_001855 NM_001864.3 # SIMILARITY Belongs to the cytochrome c oxidase VIIa family. {ECO 0000305}. # SUBCELLULAR LOCATION CX7A1_HUMAN Mitochondrion inner membrane. # SUPFAM SSF81419 SSF81419 # TCDB 3.D.4.11 the proton-translocating cytochrome oxidase (cox) superfamily # eggNOG ENOG410JE1I Eukaryota # eggNOG ENOG410ZCEG LUCA BLAST swissprot:CX7A1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CX7A1_HUMAN BioCyc ZFISH:HS14858-MONOMER http://biocyc.org/getid?id=ZFISH:HS14858-MONOMER COXPRESdb 1346 http://coxpresdb.jp/data/gene/1346.shtml CleanEx HS_COX7A1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_COX7A1 DOI 10.1006/geno.1997.4937 http://dx.doi.org/10.1006/geno.1997.4937 DOI 10.1016/0378-1119(92)90287-Y http://dx.doi.org/10.1016/0378-1119(92)90287-Y DOI 10.1016/S0167-4781(02)00228-2 http://dx.doi.org/10.1016/S0167-4781(02)00228-2 DOI 10.1038/nature02399 http://dx.doi.org/10.1038/nature02399 DOI 10.1093/oxfordjournals.molbev.a026144 http://dx.doi.org/10.1093/oxfordjournals.molbev.a026144 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1432-1033.1992.tb19847.x http://dx.doi.org/10.1111/j.1432-1033.1992.tb19847.x DrugBank DB02659 http://www.drugbank.ca/drugs/DB02659 EMBL AC002984 http://www.ebi.ac.uk/ena/data/view/AC002984 EMBL AD001527 http://www.ebi.ac.uk/ena/data/view/AD001527 EMBL AF037372 http://www.ebi.ac.uk/ena/data/view/AF037372 EMBL AF127789 http://www.ebi.ac.uk/ena/data/view/AF127789 EMBL BC002757 http://www.ebi.ac.uk/ena/data/view/BC002757 EMBL M83186 http://www.ebi.ac.uk/ena/data/view/M83186 EMBL U81524 http://www.ebi.ac.uk/ena/data/view/U81524 Ensembl ENST00000292907 http://www.ensembl.org/id/ENST00000292907 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005746 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005746 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0004129 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004129 GO_process GO:0006091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006091 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_function GO:0016491 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016491 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006091 Gene3D 4.10.91.10 http://www.cathdb.info/version/latest/superfamily/4.10.91.10 GeneCards COX7A1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=COX7A1 GeneID 1346 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=1346 GeneTree ENSGT00400000022054 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00400000022054 HGNC HGNC:2287 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:2287 HOGENOM HOG000264231 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000264231&db=HOGENOM6 HOVERGEN HBG051095 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG051095&db=HOVERGEN InParanoid P24310 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P24310 InterPro IPR003177 http://www.ebi.ac.uk/interpro/entry/IPR003177 Jabion 1346 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=1346 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00002 http://www.genome.jp/dbget-bin/www_bget?ko00002 KEGG_Gene hsa:1346 http://www.genome.jp/dbget-bin/www_bget?hsa:1346 KEGG_Orthology KO:K02270 http://www.genome.jp/dbget-bin/www_bget?KO:K02270 KEGG_Pathway ko00190 http://www.genome.jp/kegg-bin/show_pathway?ko00190 KEGG_Pathway ko04260 http://www.genome.jp/kegg-bin/show_pathway?ko04260 KEGG_Pathway ko05010 http://www.genome.jp/kegg-bin/show_pathway?ko05010 KEGG_Pathway ko05012 http://www.genome.jp/kegg-bin/show_pathway?ko05012 KEGG_Pathway ko05016 http://www.genome.jp/kegg-bin/show_pathway?ko05016 MIM 123995 http://www.ncbi.nlm.nih.gov/omim/123995 OMA GWASFPH http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=GWASFPH OrthoDB EOG091G12UD http://cegg.unige.ch/orthodb/results?searchtext=EOG091G12UD PANTHER PTHR10510 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10510 PSORT swissprot:CX7A1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CX7A1_HUMAN PSORT-B swissprot:CX7A1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CX7A1_HUMAN PSORT2 swissprot:CX7A1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CX7A1_HUMAN PharmGKB PA26805 http://www.pharmgkb.org/do/serve?objId=PA26805&objCls=Gene Phobius swissprot:CX7A1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CX7A1_HUMAN PhylomeDB P24310 http://phylomedb.org/?seqid=P24310 ProteinModelPortal P24310 http://www.proteinmodelportal.org/query/uniprot/P24310 PubMed 10335655 http://www.ncbi.nlm.nih.gov/pubmed/10335655 PubMed 11997101 http://www.ncbi.nlm.nih.gov/pubmed/11997101 PubMed 1309697 http://www.ncbi.nlm.nih.gov/pubmed/1309697 PubMed 1327965 http://www.ncbi.nlm.nih.gov/pubmed/1327965 PubMed 15057824 http://www.ncbi.nlm.nih.gov/pubmed/15057824 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 9344674 http://www.ncbi.nlm.nih.gov/pubmed/9344674 RefSeq NP_001855 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001855 SMR P24310 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P24310 STRING 9606.ENSP00000292907 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000292907&targetmode=cogs SUPFAM SSF81419 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81419 TCDB 3.D.4.11 http://www.tcdb.org/search/result.php?tc=3.D.4.11 UniGene Hs.421621 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.421621 UniProtKB CX7A1_HUMAN http://www.uniprot.org/uniprot/CX7A1_HUMAN UniProtKB-AC P24310 http://www.uniprot.org/uniprot/P24310 charge swissprot:CX7A1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CX7A1_HUMAN eggNOG ENOG410JE1I http://eggnogapi.embl.de/nog_data/html/tree/ENOG410JE1I eggNOG ENOG410ZCEG http://eggnogapi.embl.de/nog_data/html/tree/ENOG410ZCEG epestfind swissprot:CX7A1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CX7A1_HUMAN garnier swissprot:CX7A1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CX7A1_HUMAN helixturnhelix swissprot:CX7A1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CX7A1_HUMAN hmoment swissprot:CX7A1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CX7A1_HUMAN iep swissprot:CX7A1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CX7A1_HUMAN inforesidue swissprot:CX7A1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CX7A1_HUMAN neXtProt NX_P24310 http://www.nextprot.org/db/entry/NX_P24310 octanol swissprot:CX7A1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CX7A1_HUMAN pepcoil swissprot:CX7A1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CX7A1_HUMAN pepdigest swissprot:CX7A1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CX7A1_HUMAN pepinfo swissprot:CX7A1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CX7A1_HUMAN pepnet swissprot:CX7A1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CX7A1_HUMAN pepstats swissprot:CX7A1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CX7A1_HUMAN pepwheel swissprot:CX7A1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CX7A1_HUMAN pepwindow swissprot:CX7A1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CX7A1_HUMAN sigcleave swissprot:CX7A1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CX7A1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS ANO1_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q5XXA6-1; Sequence=Displayed; Name=2; IsoId=Q5XXA6-2; Sequence=VSP_025665, VSP_025668, VSP_025669; Note=No experimental confirmation available.; Name=3; IsoId=Q5XXA6-3; Sequence=VSP_025666, VSP_025667, VSP_025668, VSP_025669, VSP_025670, VSP_025671; Note=No experimental confirmation available.; # AltName ANO1_HUMAN Discovered on gastrointestinal stromal tumors protein 1 # AltName ANO1_HUMAN Oral cancer overexpressed protein 2 # AltName ANO1_HUMAN Transmembrane protein 16A # AltName ANO1_HUMAN Tumor-amplified and overexpressed sequence 2 # CCDS CCDS44663 -. [Q5XXA6-1] # ChiTaRS ANO1 human # DOMAIN ANO1_HUMAN The region spanning the fifth and sixth transmembrane domains probably forms the pore-forming region. {ECO 0000250}. # DrugBank DB04941 Crofelemer # ENZYME REGULATION ATP and calmodulin are essential for its activation. Channel activity is inhibited by CFTR protein and by chloride inhibitors such as niflumic acid (NFA) and 4,4'- diisothiocyanatostilbene-2,2'-disulfonic acid (DIDS). {ECO:0000269|PubMed 22178883}. # Ensembl ENST00000316296 ENSP00000319477; ENSG00000131620. [Q5XXA6-3] # Ensembl ENST00000355303 ENSP00000347454; ENSG00000131620. [Q5XXA6-1] # Ensembl ENST00000530676 ENSP00000435797; ENSG00000131620. [Q5XXA6-2] # ExpressionAtlas Q5XXA6 baseline and differential # FUNCTION ANO1_HUMAN Calcium-activated chloride channel (CaCC) which plays a role in transepithelial anion transport and smooth muscle contraction. Required for the normal functioning of the interstitial cells of Cajal (ICCs) which generate electrical pacemaker activity in gastrointestinal smooth muscles. Acts as a major contributor to basal and stimulated chloride conductance in airway epithelial cells and plays an important role in tracheal cartilage development. {ECO 0000269|PubMed 20056604, ECO 0000269|PubMed 21984732, ECO 0000269|PubMed 22178883, ECO 0000269|PubMed 22946059}. # GO_component GO:0005737 cytoplasm; IEA:UniProtKB-SubCell. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0016324 apical plasma membrane; IDA:UniProtKB. # GO_component GO:0034707 chloride channel complex; IEA:UniProtKB-KW. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0005227 calcium activated cation channel activity; IDA:UniProtKB. # GO_function GO:0005229 intracellular calcium activated chloride channel activity; IDA:UniProtKB. # GO_function GO:0005247 voltage-gated chloride channel activity; ISS:UniProtKB. # GO_function GO:0005254 chloride channel activity; IMP:UniProtKB. # GO_function GO:0015111 iodide transmembrane transporter activity; IMP:UniProtKB. # GO_process GO:0006812 cation transport; IDA:UniProtKB. # GO_process GO:0006821 chloride transport; IMP:UniProtKB. # GO_process GO:0007200 phospholipase C-activating G-protein coupled receptor signaling pathway; ISS:UniProtKB. # GO_process GO:0007275 multicellular organism development; IEA:UniProtKB-KW. # GO_process GO:0015705 iodide transport; IMP:UniProtKB. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0034605 cellular response to heat; ISS:UniProtKB. # GO_process GO:0035774 positive regulation of insulin secretion involved in cellular response to glucose stimulus; IMP:UniProtKB. # GO_process GO:0050965 detection of temperature stimulus involved in sensory perception of pain; ISS:UniProtKB. # GO_process GO:1902476 chloride transmembrane transport; IMP:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0055085 transmembrane transport # Genevisible Q5XXA6 HS # HGNC HGNC:21625 ANO1 # InterPro IPR007632 Anoctamin # InterPro IPR031287 Anoctamin-1 # InterPro IPR032394 Anoct_dimer # MIM 610108 gene # MISCELLANEOUS ANO1_HUMAN The term 'anoctamin' was coined because these channels are anion selective and have eight (OCT) transmembrane segments. There is some dissatisfaction in the field with the Ano nomenclature because it is not certain that all the members of this family are anion channels or have the 8-transmembrane topology. # Organism ANO1_HUMAN Homo sapiens (Human) # PANTHER PTHR12308 PTHR12308; 2 # PANTHER PTHR12308:SF13 PTHR12308:SF13; 2 # Pfam PF04547 Anoctamin # Pfam PF16178 Anoct_dimer # Proteomes UP000005640 Chromosome 11 # Reactome R-HSA-2672351 Stimuli-sensing channels # RecName ANO1_HUMAN Anoctamin-1 # RefSeq NP_060513 NM_018043.5. [Q5XXA6-1] # RefSeq XP_006718668 XM_006718605.2. [Q5XXA6-2] # RefSeq XP_011543433 XM_011545131.2. [Q5XXA6-3] # SIMILARITY Belongs to the anoctamin family. {ECO 0000305}. # SUBCELLULAR LOCATION ANO1_HUMAN Cell membrane {ECO 0000269|PubMed 15215166, ECO 0000269|PubMed 20056604, ECO 0000269|PubMed 21984732, ECO 0000269|PubMed 22178883, ECO 0000269|PubMed 22946059}; Multi- pass membrane protein {ECO 0000255}. Cytoplasm {ECO 0000269|PubMed 16261155}. Note=Cytoplasmic localization seen in neoplastic cells of head and neck squamous cell carcinoma (HNSCC) tumors. {ECO 0000269|PubMed 16261155}. # SUBUNIT ANO1_HUMAN Homodimer (PubMed 21056985). Interacts with CFTR (PubMed 22178883). Interacts with TRPV4 (By similarity). {ECO 0000250|UniProtKB Q8BHY3, ECO 0000269|PubMed 21056985, ECO 0000269|PubMed 22178883}. # TCDB 1.A.17.1 the calcium-dependent chloride channel (ca-clc) family # TISSUE SPECIFICITY ANO1_HUMAN Broadly expressed with higher levels in liver, skeletal muscle and gastrointestinal muscles. {ECO 0000269|PubMed 15215166, ECO 0000269|PubMed 16906560}. # UCSC uc001opj human. [Q5XXA6-1] # eggNOG ENOG410XS4S LUCA # eggNOG KOG2514 Eukaryota BLAST swissprot:ANO1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ANO1_HUMAN COXPRESdb 55107 http://coxpresdb.jp/data/gene/55107.shtml CleanEx HS_ANO1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ANO1 DOI 10.1002/gcc.20371 http://dx.doi.org/10.1002/gcc.20371 DOI 10.1007/s00424-011-0975-9 http://dx.doi.org/10.1007/s00424-011-0975-9 DOI 10.1016/S0002-9440(10)63279-8 http://dx.doi.org/10.1016/S0002-9440(10)63279-8 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1038/aps.2011.48 http://dx.doi.org/10.1038/aps.2011.48 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1038/sj.onc.1209203 http://dx.doi.org/10.1038/sj.onc.1209203 DOI 10.1074/jbc.M109.065367 http://dx.doi.org/10.1074/jbc.M109.065367 DOI 10.1074/jbc.M110.174847 http://dx.doi.org/10.1074/jbc.M110.174847 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1113/expphysiol.2011.058198 http://dx.doi.org/10.1113/expphysiol.2011.058198 DOI 10.1113/expphysiol.2011.058206 http://dx.doi.org/10.1113/expphysiol.2011.058206 DOI 10.1113/expphysiol.2011.058214 http://dx.doi.org/10.1113/expphysiol.2011.058214 DOI 10.1152/physiol.00030.2010 http://dx.doi.org/10.1152/physiol.00030.2010 DOI 10.1159/000335765 http://dx.doi.org/10.1159/000335765 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DOI 10.1242/jcs.109553 http://dx.doi.org/10.1242/jcs.109553 DrugBank DB04941 http://www.drugbank.ca/drugs/DB04941 EMBL AK097619 http://www.ebi.ac.uk/ena/data/view/AK097619 EMBL AK293088 http://www.ebi.ac.uk/ena/data/view/AK293088 EMBL AY728143 http://www.ebi.ac.uk/ena/data/view/AY728143 EMBL BC033036 http://www.ebi.ac.uk/ena/data/view/BC033036 Ensembl ENST00000316296 http://www.ensembl.org/id/ENST00000316296 Ensembl ENST00000355303 http://www.ensembl.org/id/ENST00000355303 Ensembl ENST00000530676 http://www.ensembl.org/id/ENST00000530676 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:0034707 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034707 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0005227 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005227 GO_function GO:0005229 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005229 GO_function GO:0005247 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005247 GO_function GO:0005254 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005254 GO_function GO:0015111 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015111 GO_process GO:0006812 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006812 GO_process GO:0006821 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006821 GO_process GO:0007200 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007200 GO_process GO:0007275 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007275 GO_process GO:0015705 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015705 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0034605 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034605 GO_process GO:0035774 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035774 GO_process GO:0050965 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050965 GO_process GO:1902476 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902476 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards ANO1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ANO1 GeneID 55107 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=55107 GeneTree ENSGT00760000119015 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119015 HGNC HGNC:21625 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:21625 HOGENOM HOG000006509 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000006509&db=HOGENOM6 HOVERGEN HBG069519 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG069519&db=HOVERGEN HPA HPA032148 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA032148 InParanoid Q5XXA6 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q5XXA6 IntAct Q5XXA6 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q5XXA6* InterPro IPR007632 http://www.ebi.ac.uk/interpro/entry/IPR007632 InterPro IPR031287 http://www.ebi.ac.uk/interpro/entry/IPR031287 InterPro IPR032394 http://www.ebi.ac.uk/interpro/entry/IPR032394 Jabion 55107 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=55107 KEGG_Gene hsa:55107 http://www.genome.jp/dbget-bin/www_bget?hsa:55107 MIM 610108 http://www.ncbi.nlm.nih.gov/omim/610108 OMA DPDAECK http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=DPDAECK OrthoDB EOG091G01JF http://cegg.unige.ch/orthodb/results?searchtext=EOG091G01JF PANTHER PTHR12308 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12308 PANTHER PTHR12308:SF13 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12308:SF13 PSORT swissprot:ANO1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ANO1_HUMAN PSORT-B swissprot:ANO1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ANO1_HUMAN PSORT2 swissprot:ANO1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ANO1_HUMAN Pfam PF04547 http://pfam.xfam.org/family/PF04547 Pfam PF16178 http://pfam.xfam.org/family/PF16178 PharmGKB PA164715378 http://www.pharmgkb.org/do/serve?objId=PA164715378&objCls=Gene Phobius swissprot:ANO1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ANO1_HUMAN PhylomeDB Q5XXA6 http://phylomedb.org/?seqid=Q5XXA6 ProteinModelPortal Q5XXA6 http://www.proteinmodelportal.org/query/uniprot/Q5XXA6 PubMed 12739008 http://www.ncbi.nlm.nih.gov/pubmed/12739008 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15215166 http://www.ncbi.nlm.nih.gov/pubmed/15215166 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16261155 http://www.ncbi.nlm.nih.gov/pubmed/16261155 PubMed 16906560 http://www.ncbi.nlm.nih.gov/pubmed/16906560 PubMed 20056604 http://www.ncbi.nlm.nih.gov/pubmed/20056604 PubMed 21056985 http://www.ncbi.nlm.nih.gov/pubmed/21056985 PubMed 21186280 http://www.ncbi.nlm.nih.gov/pubmed/21186280 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 21607626 http://www.ncbi.nlm.nih.gov/pubmed/21607626 PubMed 21642943 http://www.ncbi.nlm.nih.gov/pubmed/21642943 PubMed 21908539 http://www.ncbi.nlm.nih.gov/pubmed/21908539 PubMed 21984732 http://www.ncbi.nlm.nih.gov/pubmed/21984732 PubMed 22178883 http://www.ncbi.nlm.nih.gov/pubmed/22178883 PubMed 22302790 http://www.ncbi.nlm.nih.gov/pubmed/22302790 PubMed 22946059 http://www.ncbi.nlm.nih.gov/pubmed/22946059 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 Reactome R-HSA-2672351 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2672351 RefSeq NP_060513 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_060513 RefSeq XP_006718668 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006718668 RefSeq XP_011543433 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011543433 STRING 9606.ENSP00000347454 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000347454&targetmode=cogs TCDB 1.A.17.1 http://www.tcdb.org/search/result.php?tc=1.A.17.1 UCSC uc001opj http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001opj&org=rat UniGene Hs.503074 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.503074 UniProtKB ANO1_HUMAN http://www.uniprot.org/uniprot/ANO1_HUMAN UniProtKB-AC Q5XXA6 http://www.uniprot.org/uniprot/Q5XXA6 charge swissprot:ANO1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ANO1_HUMAN eggNOG ENOG410XS4S http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XS4S eggNOG KOG2514 http://eggnogapi.embl.de/nog_data/html/tree/KOG2514 epestfind swissprot:ANO1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ANO1_HUMAN garnier swissprot:ANO1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ANO1_HUMAN helixturnhelix swissprot:ANO1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ANO1_HUMAN hmoment swissprot:ANO1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ANO1_HUMAN iep swissprot:ANO1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ANO1_HUMAN inforesidue swissprot:ANO1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ANO1_HUMAN neXtProt NX_Q5XXA6 http://www.nextprot.org/db/entry/NX_Q5XXA6 octanol swissprot:ANO1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ANO1_HUMAN pepcoil swissprot:ANO1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ANO1_HUMAN pepdigest swissprot:ANO1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ANO1_HUMAN pepinfo swissprot:ANO1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ANO1_HUMAN pepnet swissprot:ANO1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ANO1_HUMAN pepstats swissprot:ANO1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ANO1_HUMAN pepwheel swissprot:ANO1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ANO1_HUMAN pepwindow swissprot:ANO1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ANO1_HUMAN sigcleave swissprot:ANO1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ANO1_HUMAN ## Database ID URL or Descriptions # AltName SC6A7_HUMAN Solute carrier family 6 member 7 # DrugBank DB00172 L-Proline # Ensembl ENST00000230671 ENSP00000230671; ENSG00000011083 # ExpressionAtlas Q99884 baseline and differential # FUNCTION SC6A7_HUMAN Terminates the action of proline by its high affinity sodium-dependent reuptake into presynaptic terminals. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0016020 membrane; TAS:ProtInc. # GO_function GO:0015193 L-proline transmembrane transporter activity; IBA:GO_Central. # GO_function SC6A7_HUMAN GO 0005298 proline sodium symporter activity; TAS Reactome. # GO_function SC6A7_HUMAN GO 0005328 neurotransmitter sodium symporter activity; IEA InterPro. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0015824 proline transport; TAS:ProtInc. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # Genevisible Q99884 HS # HGNC HGNC:11054 SLC6A7 # InterPro IPR000175 Na/ntran_symport # KEGG_Brite ko02001 Solute carrier family # KEGG_Brite ko04040 Ion channels # MIM 606205 gene # Organism SC6A7_HUMAN Homo sapiens (Human) # PANTHER PTHR11616 PTHR11616 # PRINTS PR00176 NANEUSMPORT # PROSITE PS00610 NA_NEUROTRAN_SYMP_1 # PROSITE PS00754 NA_NEUROTRAN_SYMP_2 # PROSITE PS50267 NA_NEUROTRAN_SYMP_3 # Pfam PF00209 SNF # Proteomes UP000005640 Chromosome 5 # Reactome R-HSA-442660 Na+/Cl- dependent neurotransmitter transporters # Reactome R-HSA-71288 Creatine metabolism # RecName SC6A7_HUMAN Sodium-dependent proline transporter # RefSeq NP_055043 NM_014228.4 # SIMILARITY Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A7 subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION SC6A7_HUMAN Membrane; Multi-pass membrane protein. # TCDB 2.A.22.2.11:the neurotransmitter sodium symporter (nss) family # TISSUE SPECIFICITY SC6A7_HUMAN Brain. # UCSC uc003lrr human # eggNOG COG0733 LUCA # eggNOG KOG3659 Eukaryota BLAST swissprot:SC6A7_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SC6A7_HUMAN BioCyc ZFISH:ENSG00000011083-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000011083-MONOMER COXPRESdb 6534 http://coxpresdb.jp/data/gene/6534.shtml CleanEx HS_SLC6A7 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC6A7 DOI 10.1038/nature02919 http://dx.doi.org/10.1038/nature02919 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DrugBank DB00172 http://www.drugbank.ca/drugs/DB00172 EMBL AC005895 http://www.ebi.ac.uk/ena/data/view/AC005895 EMBL BC069631 http://www.ebi.ac.uk/ena/data/view/BC069631 EMBL BC093785 http://www.ebi.ac.uk/ena/data/view/BC093785 EMBL BC113425 http://www.ebi.ac.uk/ena/data/view/BC113425 EMBL S80071 http://www.ebi.ac.uk/ena/data/view/S80071 Ensembl ENST00000230671 http://www.ensembl.org/id/ENST00000230671 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_function GO:0005298 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005298 GO_function GO:0005328 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005328 GO_function GO:0015193 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015193 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0015824 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015824 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GeneCards SLC6A7 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC6A7 GeneID 6534 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6534 GeneTree ENSGT00760000118857 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118857 H-InvDB HIX0005311 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0005311 HGNC HGNC:11054 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11054 HOGENOM HOG000116406 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000116406&db=HOGENOM6 HOVERGEN HBG071421 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG071421&db=HOVERGEN HPA HPA028907 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA028907 InParanoid Q99884 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q99884 InterPro IPR000175 http://www.ebi.ac.uk/interpro/entry/IPR000175 Jabion 6534 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6534 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:6534 http://www.genome.jp/dbget-bin/www_bget?hsa:6534 KEGG_Orthology KO:K05038 http://www.genome.jp/dbget-bin/www_bget?KO:K05038 MIM 606205 http://www.ncbi.nlm.nih.gov/omim/606205 PANTHER PTHR11616 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11616 PRINTS PR00176 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00176 PROSITE PS00610 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00610 PROSITE PS00754 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00754 PROSITE PS50267 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50267 PSORT swissprot:SC6A7_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SC6A7_HUMAN PSORT-B swissprot:SC6A7_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SC6A7_HUMAN PSORT2 swissprot:SC6A7_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SC6A7_HUMAN Pfam PF00209 http://pfam.xfam.org/family/PF00209 PharmGKB PA35914 http://www.pharmgkb.org/do/serve?objId=PA35914&objCls=Gene Phobius swissprot:SC6A7_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SC6A7_HUMAN PhylomeDB Q99884 http://phylomedb.org/?seqid=Q99884 ProteinModelPortal Q99884 http://www.proteinmodelportal.org/query/uniprot/Q99884 PubMed 15372022 http://www.ncbi.nlm.nih.gov/pubmed/15372022 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 7651355 http://www.ncbi.nlm.nih.gov/pubmed/7651355 Reactome R-HSA-442660 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-442660 Reactome R-HSA-71288 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-71288 RefSeq NP_055043 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_055043 SMR Q99884 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q99884 STRING 9606.ENSP00000230671 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000230671&targetmode=cogs TCDB 2.A.22.2.11 http://www.tcdb.org/search/result.php?tc=2.A.22.2.11 UCSC uc003lrr http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003lrr&org=rat UniGene Hs.241597 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.241597 UniProtKB SC6A7_HUMAN http://www.uniprot.org/uniprot/SC6A7_HUMAN UniProtKB-AC Q99884 http://www.uniprot.org/uniprot/Q99884 charge swissprot:SC6A7_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SC6A7_HUMAN eggNOG COG0733 http://eggnogapi.embl.de/nog_data/html/tree/COG0733 eggNOG KOG3659 http://eggnogapi.embl.de/nog_data/html/tree/KOG3659 epestfind swissprot:SC6A7_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SC6A7_HUMAN garnier swissprot:SC6A7_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SC6A7_HUMAN helixturnhelix swissprot:SC6A7_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SC6A7_HUMAN hmoment swissprot:SC6A7_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SC6A7_HUMAN iep swissprot:SC6A7_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SC6A7_HUMAN inforesidue swissprot:SC6A7_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SC6A7_HUMAN neXtProt NX_Q99884 http://www.nextprot.org/db/entry/NX_Q99884 octanol swissprot:SC6A7_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SC6A7_HUMAN pepcoil swissprot:SC6A7_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SC6A7_HUMAN pepdigest swissprot:SC6A7_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SC6A7_HUMAN pepinfo swissprot:SC6A7_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SC6A7_HUMAN pepnet swissprot:SC6A7_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SC6A7_HUMAN pepstats swissprot:SC6A7_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SC6A7_HUMAN pepwheel swissprot:SC6A7_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SC6A7_HUMAN pepwindow swissprot:SC6A7_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SC6A7_HUMAN sigcleave swissprot:SC6A7_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SC6A7_HUMAN ## Database ID URL or Descriptions # AltName NTCP5_HUMAN Na(+)/bile acid cotransporter 5 # AltName NTCP5_HUMAN Solute carrier family 10 member 5 # Ensembl ENST00000518568 ENSP00000428612; ENSG00000253598 # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_function NTCP5_HUMAN GO 0008508 bile acid sodium symporter activity; IBA GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # HGNC HGNC:22981 SLC10A5 # InterPro IPR002657:BilAc Na_symport/Acr3 # InterPro IPR030209 SLC10A5 # KEGG_Brite ko02001 Solute carrier family # Organism NTCP5_HUMAN Homo sapiens (Human) # PANTHER PTHR10361 PTHR10361 # PANTHER PTHR10361:SF29 PTHR10361:SF29 # Pfam PF01758 SBF # Proteomes UP000005640 Chromosome 8 # RecName NTCP5_HUMAN Sodium/bile acid cotransporter 5 # RefSeq NP_001010893 NM_001010893.2 # SIMILARITY Belongs to the bile acid:sodium symporter (BASS) (TC 2.A.28) family. {ECO 0000305}. # SUBCELLULAR LOCATION NTCP5_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # TCDB 2.A.28.1:the bile acid na(+) symporter (bass) family # UCSC uc011lfs human # eggNOG COG0385 LUCA # eggNOG KOG2718 Eukaryota BLAST swissprot:NTCP5_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:NTCP5_HUMAN BioCyc ZFISH:G66-33022-MONOMER http://biocyc.org/getid?id=ZFISH:G66-33022-MONOMER COXPRESdb 347051 http://coxpresdb.jp/data/gene/347051.shtml CleanEx HS_SLC10A5 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC10A5 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AK095808 http://www.ebi.ac.uk/ena/data/view/AK095808 EMBL AY825924 http://www.ebi.ac.uk/ena/data/view/AY825924 EMBL BC136625 http://www.ebi.ac.uk/ena/data/view/BC136625 EMBL BC136631 http://www.ebi.ac.uk/ena/data/view/BC136631 Ensembl ENST00000518568 http://www.ensembl.org/id/ENST00000518568 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0008508 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008508 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GeneCards SLC10A5 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC10A5 GeneID 347051 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=347051 GeneTree ENSGT00550000074505 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074505 HGNC HGNC:22981 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:22981 HOGENOM HOG000037944 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000037944&db=HOGENOM6 HOVERGEN HBG002872 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG002872&db=HOVERGEN HPA HPA025966 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA025966 InParanoid Q5PT55 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q5PT55 InterPro IPR002657 http://www.ebi.ac.uk/interpro/entry/IPR002657 InterPro IPR030209 http://www.ebi.ac.uk/interpro/entry/IPR030209 Jabion 347051 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=347051 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:347051 http://www.genome.jp/dbget-bin/www_bget?hsa:347051 KEGG_Orthology KO:K14343 http://www.genome.jp/dbget-bin/www_bget?KO:K14343 OMA CAFGCKI http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=CAFGCKI OrthoDB EOG091G0HEJ http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0HEJ PANTHER PTHR10361 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10361 PANTHER PTHR10361:SF29 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10361:SF29 PSORT swissprot:NTCP5_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:NTCP5_HUMAN PSORT-B swissprot:NTCP5_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:NTCP5_HUMAN PSORT2 swissprot:NTCP5_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:NTCP5_HUMAN Pfam PF01758 http://pfam.xfam.org/family/PF01758 PharmGKB PA134933839 http://www.pharmgkb.org/do/serve?objId=PA134933839&objCls=Gene Phobius swissprot:NTCP5_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:NTCP5_HUMAN PhylomeDB Q5PT55 http://phylomedb.org/?seqid=Q5PT55 ProteinModelPortal Q5PT55 http://www.proteinmodelportal.org/query/uniprot/Q5PT55 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 RefSeq NP_001010893 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001010893 STRING 9606.ENSP00000428612 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000428612&targetmode=cogs TCDB 2.A.28.1 http://www.tcdb.org/search/result.php?tc=2.A.28.1 UCSC uc011lfs http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc011lfs&org=rat UniGene Hs.683849 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.683849 UniProtKB NTCP5_HUMAN http://www.uniprot.org/uniprot/NTCP5_HUMAN UniProtKB-AC Q5PT55 http://www.uniprot.org/uniprot/Q5PT55 charge swissprot:NTCP5_HUMAN http://rest.g-language.org/emboss/charge/swissprot:NTCP5_HUMAN eggNOG COG0385 http://eggnogapi.embl.de/nog_data/html/tree/COG0385 eggNOG KOG2718 http://eggnogapi.embl.de/nog_data/html/tree/KOG2718 epestfind swissprot:NTCP5_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:NTCP5_HUMAN garnier swissprot:NTCP5_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:NTCP5_HUMAN helixturnhelix swissprot:NTCP5_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:NTCP5_HUMAN hmoment swissprot:NTCP5_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:NTCP5_HUMAN iep swissprot:NTCP5_HUMAN http://rest.g-language.org/emboss/iep/swissprot:NTCP5_HUMAN inforesidue swissprot:NTCP5_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:NTCP5_HUMAN neXtProt NX_Q5PT55 http://www.nextprot.org/db/entry/NX_Q5PT55 octanol swissprot:NTCP5_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:NTCP5_HUMAN pepcoil swissprot:NTCP5_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:NTCP5_HUMAN pepdigest swissprot:NTCP5_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:NTCP5_HUMAN pepinfo swissprot:NTCP5_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:NTCP5_HUMAN pepnet swissprot:NTCP5_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:NTCP5_HUMAN pepstats swissprot:NTCP5_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:NTCP5_HUMAN pepwheel swissprot:NTCP5_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:NTCP5_HUMAN pepwindow swissprot:NTCP5_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:NTCP5_HUMAN sigcleave swissprot:NTCP5_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:NTCP5_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S38AB_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q08AI6-1; Sequence=Displayed; Name=2; IsoId=Q08AI6-2; Sequence=VSP_032529; # AltName S38AB_HUMAN Solute carrier family 38 member 11 # CCDS CCDS2224 -. [Q08AI6-2] # CCDS CCDS56142 -. [Q08AI6-1] # ChiTaRS SLC38A11 human # Ensembl ENST00000303735 ENSP00000306178; ENSG00000169507. [Q08AI6-2] # Ensembl ENST00000409149 ENSP00000386272; ENSG00000169507. [Q08AI6-1] # Ensembl ENST00000409662 ENSP00000386774; ENSG00000169507. [Q08AI6-1] # ExpressionAtlas Q08AI6 baseline and differential # FUNCTION S38AB_HUMAN Putative sodium-dependent amino acid/proton antiporter. {ECO 0000305}. # GO_component GO:0005783 endoplasmic reticulum; IBA:GO_Central. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0015171 amino acid transmembrane transporter activity; IBA:GO_Central. # GO_process GO:0003333 amino acid transmembrane transport; IBA:GO_Central. # GO_process GO:0006814 sodium ion transport; IEA:UniProtKB-KW. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0055085 transmembrane transport # Genevisible Q08AI6 HS # HGNC HGNC:26836 SLC38A11 # InterPro IPR013057 AA_transpt_TM # KEGG_Brite ko02001 Solute carrier family # MIM 616526 gene # Organism S38AB_HUMAN Homo sapiens (Human) # Pfam PF01490 Aa_trans # Proteomes UP000005640 Chromosome 2 # RecName S38AB_HUMAN Putative sodium-coupled neutral amino acid transporter 11 # RefSeq NP_001186077 NM_001199148.1. [Q08AI6-1] # RefSeq NP_775783 NM_173512.2. [Q08AI6-2] # SIMILARITY Belongs to the amino acid/polyamine transporter 2 family. {ECO 0000305}. # SUBCELLULAR LOCATION S38AB_HUMAN Membrane {ECO 0000255}; Multi-pass membrane protein {ECO 0000255}. # TCDB 2.A.18.6.18 the amino acid/auxin permease (aaap) family # UCSC uc002ucu human. [Q08AI6-1] # eggNOG COG0814 LUCA # eggNOG KOG1305 Eukaryota BLAST swissprot:S38AB_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S38AB_HUMAN COXPRESdb 151258 http://coxpresdb.jp/data/gene/151258.shtml CleanEx HS_SLC38A11 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC38A11 DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AC019197 http://www.ebi.ac.uk/ena/data/view/AC019197 EMBL AK097141 http://www.ebi.ac.uk/ena/data/view/AK097141 EMBL AK293998 http://www.ebi.ac.uk/ena/data/view/AK293998 EMBL BC125157 http://www.ebi.ac.uk/ena/data/view/BC125157 EMBL CH471058 http://www.ebi.ac.uk/ena/data/view/CH471058 Ensembl ENST00000303735 http://www.ensembl.org/id/ENST00000303735 Ensembl ENST00000409149 http://www.ensembl.org/id/ENST00000409149 Ensembl ENST00000409662 http://www.ensembl.org/id/ENST00000409662 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0015171 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015171 GO_process GO:0003333 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003333 GO_process GO:0006814 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006814 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC38A11 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC38A11 GeneID 151258 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=151258 GeneTree ENSGT00760000119147 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119147 HGNC HGNC:26836 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:26836 HOGENOM HOG000188354 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000188354&db=HOGENOM6 HOVERGEN HBG106990 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG106990&db=HOVERGEN HPA HPA043432 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA043432 InParanoid Q08AI6 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q08AI6 InterPro IPR013057 http://www.ebi.ac.uk/interpro/entry/IPR013057 Jabion 151258 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=151258 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:151258 http://www.genome.jp/dbget-bin/www_bget?hsa:151258 KEGG_Orthology KO:K14997 http://www.genome.jp/dbget-bin/www_bget?KO:K14997 MIM 616526 http://www.ncbi.nlm.nih.gov/omim/616526 PSORT swissprot:S38AB_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S38AB_HUMAN PSORT-B swissprot:S38AB_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S38AB_HUMAN PSORT2 swissprot:S38AB_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S38AB_HUMAN Pfam PF01490 http://pfam.xfam.org/family/PF01490 PharmGKB PA162403771 http://www.pharmgkb.org/do/serve?objId=PA162403771&objCls=Gene Phobius swissprot:S38AB_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S38AB_HUMAN PhylomeDB Q08AI6 http://phylomedb.org/?seqid=Q08AI6 ProteinModelPortal Q08AI6 http://www.proteinmodelportal.org/query/uniprot/Q08AI6 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 RefSeq NP_001186077 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001186077 RefSeq NP_775783 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_775783 STRING 9606.ENSP00000386272 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000386272&targetmode=cogs TCDB 2.A.18.6.18 http://www.tcdb.org/search/result.php?tc=2.A.18.6.18 UCSC uc002ucu http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002ucu&org=rat UniGene Hs.658702 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.658702 UniProtKB S38AB_HUMAN http://www.uniprot.org/uniprot/S38AB_HUMAN UniProtKB-AC Q08AI6 http://www.uniprot.org/uniprot/Q08AI6 charge swissprot:S38AB_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S38AB_HUMAN eggNOG COG0814 http://eggnogapi.embl.de/nog_data/html/tree/COG0814 eggNOG KOG1305 http://eggnogapi.embl.de/nog_data/html/tree/KOG1305 epestfind swissprot:S38AB_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S38AB_HUMAN garnier swissprot:S38AB_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S38AB_HUMAN helixturnhelix swissprot:S38AB_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S38AB_HUMAN hmoment swissprot:S38AB_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S38AB_HUMAN iep swissprot:S38AB_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S38AB_HUMAN inforesidue swissprot:S38AB_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S38AB_HUMAN neXtProt NX_Q08AI6 http://www.nextprot.org/db/entry/NX_Q08AI6 octanol swissprot:S38AB_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S38AB_HUMAN pepcoil swissprot:S38AB_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S38AB_HUMAN pepdigest swissprot:S38AB_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S38AB_HUMAN pepinfo swissprot:S38AB_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S38AB_HUMAN pepnet swissprot:S38AB_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S38AB_HUMAN pepstats swissprot:S38AB_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S38AB_HUMAN pepwheel swissprot:S38AB_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S38AB_HUMAN pepwindow swissprot:S38AB_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S38AB_HUMAN sigcleave swissprot:S38AB_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S38AB_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS Event=Alternative splicing; Named isoforms=9; Name=1; IsoId=Q96GZ6-1; Sequence=Displayed; Name=2; IsoId=Q96GZ6-2; Sequence=VSP_026938; Name=3; IsoId=Q96GZ6-3; Sequence=VSP_026935; Name=4; IsoId=Q96GZ6-4; Sequence=VSP_026935, VSP_026938; Name=5; IsoId=Q96GZ6-5; Sequence=VSP_026934, VSP_026937; Name=6; IsoId=Q96GZ6-6; Sequence=VSP_026936, VSP_026937; Name=7; IsoId=Q96GZ6-7; Sequence=VSP_035505, VSP_035506, VSP_026937; Note=Ref.1 (BAG52701) sequence is in conflict in position: 432 G->S. {ECO:0000305}; Name=8; IsoId=Q96GZ6-8; Sequence=VSP_043676, VSP_026937; Note=No experimental confirmation available.; Name=9; IsoId=Q96GZ6-9; Sequence=VSP_054059, VSP_054060; Note=No experimental confirmation available.; # BioGrid 120285 9 # CCDS CCDS33842 -. [Q96GZ6-3] # CCDS CCDS33843 -. [Q96GZ6-1] # CCDS CCDS33844 -. [Q96GZ6-7] # CCDS CCDS43144 -. [Q96GZ6-9] # CCDS CCDS54635 -. [Q96GZ6-8] # ChiTaRS SLC41A3 human # Ensembl ENST00000315891 ENSP00000326070; ENSG00000114544. [Q96GZ6-1] # Ensembl ENST00000346785 ENSP00000264471; ENSG00000114544. [Q96GZ6-3] # Ensembl ENST00000360370 ENSP00000353533; ENSG00000114544. [Q96GZ6-9] # Ensembl ENST00000383598 ENSP00000373092; ENSG00000114544. [Q96GZ6-7] # Ensembl ENST00000508835 ENSP00000427409; ENSG00000114544. [Q96GZ6-8] # ExpressionAtlas Q96GZ6 baseline and differential # GO_component GO:0005886 plasma membrane; IEA:UniProtKB-SubCell. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0008324 cation transmembrane transporter activity; IEA:InterPro. # GO_process GO:0055085 transmembrane transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.10.357.20 -; 2. # Genevisible Q96GZ6 HS # HGNC HGNC:31046 SLC41A3 # INTERACTION S41A3_HUMAN Q86UT5 PDZD3; NbExp=3; IntAct=EBI-7225508, EBI-8744528; Q04864 REL; NbExp=3; IntAct=EBI-7225508, EBI-307352; # IntAct Q96GZ6 5 # InterPro IPR006667 SLC41_membr_dom # KEGG_Brite ko02001 Solute carrier family # MIM 610803 gene # Organism S41A3_HUMAN Homo sapiens (Human) # Pfam PF01769 MgtE; 2 # Proteomes UP000005640 Chromosome 3 # RecName S41A3_HUMAN Solute carrier family 41 member 3 # RefSeq NP_001008485 NM_001008485.1 # RefSeq NP_001008486 NM_001008486.1 # RefSeq NP_001008487 NM_001008487.1. [Q96GZ6-7] # RefSeq NP_001157947 NM_001164475.1. [Q96GZ6-8] # RefSeq XP_005247619 XM_005247562.1. [Q96GZ6-1] # RefSeq XP_005247620 XM_005247563.2. [Q96GZ6-1] # RefSeq XP_006713744 XM_006713681.2. [Q96GZ6-1] # RefSeq XP_016862195 XM_017006706.1. [Q96GZ6-9] # RefSeq XP_016862196 XM_017006707.1. [Q96GZ6-9] # SIMILARITY Belongs to the SLC41A transporter family. {ECO 0000305}. # SUBCELLULAR LOCATION S41A3_HUMAN Cell membrane; Multi-pass membrane protein. # TCDB 1.A.26.2 the mg(2+) transporter-e (mgte) family # TopDownProteomics Q96GZ6-7 -. [Q96GZ6-7] # UCSC uc003eii human. [Q96GZ6-1] # eggNOG ENOG410XSTG LUCA # eggNOG KOG3788 Eukaryota BLAST swissprot:S41A3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S41A3_HUMAN COXPRESdb 54946 http://coxpresdb.jp/data/gene/54946.shtml CleanEx HS_SLC41A3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC41A3 DOI 10.1038/nature04728 http://dx.doi.org/10.1038/nature04728 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AC079848 http://www.ebi.ac.uk/ena/data/view/AC079848 EMBL AC092903 http://www.ebi.ac.uk/ena/data/view/AC092903 EMBL AC117422 http://www.ebi.ac.uk/ena/data/view/AC117422 EMBL AK000480 http://www.ebi.ac.uk/ena/data/view/AK000480 EMBL AK021925 http://www.ebi.ac.uk/ena/data/view/AK021925 EMBL AK022780 http://www.ebi.ac.uk/ena/data/view/AK022780 EMBL AK091671 http://www.ebi.ac.uk/ena/data/view/AK091671 EMBL AK093380 http://www.ebi.ac.uk/ena/data/view/AK093380 EMBL AK298070 http://www.ebi.ac.uk/ena/data/view/AK298070 EMBL BC009039 http://www.ebi.ac.uk/ena/data/view/BC009039 EMBL BC009444 http://www.ebi.ac.uk/ena/data/view/BC009444 EMBL BC028241 http://www.ebi.ac.uk/ena/data/view/BC028241 Ensembl ENST00000315891 http://www.ensembl.org/id/ENST00000315891 Ensembl ENST00000346785 http://www.ensembl.org/id/ENST00000346785 Ensembl ENST00000360370 http://www.ensembl.org/id/ENST00000360370 Ensembl ENST00000383598 http://www.ensembl.org/id/ENST00000383598 Ensembl ENST00000508835 http://www.ensembl.org/id/ENST00000508835 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0008324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008324 GO_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.10.357.20 http://www.cathdb.info/version/latest/superfamily/1.10.357.20 GeneCards SLC41A3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC41A3 GeneID 54946 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=54946 GeneTree ENSGT00390000016816 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000016816 HGNC HGNC:31046 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:31046 HOGENOM HOG000007017 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000007017&db=HOGENOM6 HOVERGEN HBG057187 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG057187&db=HOVERGEN HPA HPA045847 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA045847 InParanoid Q96GZ6 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q96GZ6 IntAct Q96GZ6 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q96GZ6* InterPro IPR006667 http://www.ebi.ac.uk/interpro/entry/IPR006667 Jabion 54946 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=54946 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:54946 http://www.genome.jp/dbget-bin/www_bget?hsa:54946 KEGG_Orthology KO:K15122 http://www.genome.jp/dbget-bin/www_bget?KO:K15122 MIM 610803 http://www.ncbi.nlm.nih.gov/omim/610803 MINT MINT-4933371 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-4933371 OMA TQLNLEF http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=TQLNLEF OrthoDB EOG091G08MB http://cegg.unige.ch/orthodb/results?searchtext=EOG091G08MB PSORT swissprot:S41A3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S41A3_HUMAN PSORT-B swissprot:S41A3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S41A3_HUMAN PSORT2 swissprot:S41A3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S41A3_HUMAN Pfam PF01769 http://pfam.xfam.org/family/PF01769 PharmGKB PA134878151 http://www.pharmgkb.org/do/serve?objId=PA134878151&objCls=Gene Phobius swissprot:S41A3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S41A3_HUMAN PhylomeDB Q96GZ6 http://phylomedb.org/?seqid=Q96GZ6 ProteinModelPortal Q96GZ6 http://www.proteinmodelportal.org/query/uniprot/Q96GZ6 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16641997 http://www.ncbi.nlm.nih.gov/pubmed/16641997 RefSeq NP_001008485 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001008485 RefSeq NP_001008486 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001008486 RefSeq NP_001008487 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001008487 RefSeq NP_001157947 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001157947 RefSeq XP_005247619 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005247619 RefSeq XP_005247620 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005247620 RefSeq XP_006713744 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006713744 RefSeq XP_016862195 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016862195 RefSeq XP_016862196 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016862196 STRING 9606.ENSP00000326070 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000326070&targetmode=cogs TCDB 1.A.26.2 http://www.tcdb.org/search/result.php?tc=1.A.26.2 UCSC uc003eii http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003eii&org=rat UniGene Hs.573007 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.573007 UniProtKB S41A3_HUMAN http://www.uniprot.org/uniprot/S41A3_HUMAN UniProtKB-AC Q96GZ6 http://www.uniprot.org/uniprot/Q96GZ6 charge swissprot:S41A3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S41A3_HUMAN eggNOG ENOG410XSTG http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XSTG eggNOG KOG3788 http://eggnogapi.embl.de/nog_data/html/tree/KOG3788 epestfind swissprot:S41A3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S41A3_HUMAN garnier swissprot:S41A3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S41A3_HUMAN helixturnhelix swissprot:S41A3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S41A3_HUMAN hmoment swissprot:S41A3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S41A3_HUMAN iep swissprot:S41A3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S41A3_HUMAN inforesidue swissprot:S41A3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S41A3_HUMAN neXtProt NX_Q96GZ6 http://www.nextprot.org/db/entry/NX_Q96GZ6 octanol swissprot:S41A3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S41A3_HUMAN pepcoil swissprot:S41A3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S41A3_HUMAN pepdigest swissprot:S41A3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S41A3_HUMAN pepinfo swissprot:S41A3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S41A3_HUMAN pepnet swissprot:S41A3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S41A3_HUMAN pepstats swissprot:S41A3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S41A3_HUMAN pepwheel swissprot:S41A3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S41A3_HUMAN pepwindow swissprot:S41A3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S41A3_HUMAN sigcleave swissprot:S41A3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S41A3_HUMAN ## Database ID URL or Descriptions # AltName S13A4_HUMAN Na(+)/sulfate cotransporter SUT-1 # AltName S13A4_HUMAN NaS2 # ChiTaRS SLC13A4 human # Ensembl ENST00000354042 ENSP00000297282; ENSG00000164707 # ExpressionAtlas Q9UKG4 baseline and differential # FUNCTION S13A4_HUMAN Sodium/sulfate cotransporter that mediates sulfate reabsorption in the high endothelial venules (HEV). {ECO 0000269|PubMed 10535998, ECO 0000269|PubMed 15607730}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_function S13A4_HUMAN GO 0015382 sodium sulfate symporter activity; TAS Reactome. # GO_process GO:0008272 sulfate transport; TAS:ProtInc. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # Genevisible Q9UKG4 HS # HGNC HGNC:15827 SLC13A4 # InterPro IPR001898 Na/sul_symport # KEGG_Brite ko02001 Solute carrier family # MIM 604309 gene # MISCELLANEOUS S13A4_HUMAN Transport is inhibited by thiosulfate, phosphate, molybdate, selenate and tungstate. Not inhibited by oxalate, citrate, succinate, phenol red or 4,4'-diisothiocyanostilbene- 2,2'-disulfonic acid (DIDS). # Organism S13A4_HUMAN Homo sapiens (Human) # Pfam PF00939 Na_sulph_symp # Proteomes UP000005640 Chromosome 7 # Reactome R-HSA-433137 Sodium-coupled sulphate, di- and tri-carboxylate transporters # RecName S13A4_HUMAN Solute carrier family 13 member 4 # RefSeq NP_001305121 NM_001318192.1 # RefSeq NP_036582 NM_012450.3 # SIMILARITY Belongs to the SLC13A/DASS transporter (TC 2.A.47) family. NADC subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION S13A4_HUMAN Membrane; Multi-pass membrane protein. # TCDB 2.A.47.1.14:the divalent anion na(+) symporter (dass) family # TISSUE SPECIFICITY S13A4_HUMAN Highly expressed in placenta and testis with intermediate levels in brain and lower levels in heart, thymus and liver. {ECO 0000269|PubMed 10535998, ECO 0000269|PubMed 15607730}. # UCSC uc003vta human # eggNOG COG0471 LUCA # eggNOG KOG1281 Eukaryota BLAST swissprot:S13A4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S13A4_HUMAN BioCyc ZFISH:ENSG00000164707-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000164707-MONOMER COXPRESdb 26266 http://coxpresdb.jp/data/gene/26266.shtml CleanEx HS_SLC13A4 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC13A4 DOI 10.1016/j.bbrc.2004.11.102 http://dx.doi.org/10.1016/j.bbrc.2004.11.102 DOI 10.1038/nature01782 http://dx.doi.org/10.1038/nature01782 DOI 10.1073/pnas.96.22.12772 http://dx.doi.org/10.1073/pnas.96.22.12772 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1083423 http://dx.doi.org/10.1126/science.1083423 EMBL AC091736 http://www.ebi.ac.uk/ena/data/view/AC091736 EMBL AF169301 http://www.ebi.ac.uk/ena/data/view/AF169301 EMBL BC030689 http://www.ebi.ac.uk/ena/data/view/BC030689 EMBL CH236950 http://www.ebi.ac.uk/ena/data/view/CH236950 EMBL CH471070 http://www.ebi.ac.uk/ena/data/view/CH471070 Ensembl ENST00000354042 http://www.ensembl.org/id/ENST00000354042 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0015382 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015382 GO_process GO:0008272 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008272 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GeneCards SLC13A4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC13A4 GeneID 26266 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=26266 GeneTree ENSGT00550000074480 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074480 H-InvDB HIX0025275 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0025275 HGNC HGNC:15827 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:15827 HOGENOM HOG000278432 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000278432&db=HOGENOM6 HOVERGEN HBG055339 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG055339&db=HOVERGEN HPA HPA048582 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA048582 InParanoid Q9UKG4 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9UKG4 InterPro IPR001898 http://www.ebi.ac.uk/interpro/entry/IPR001898 Jabion 26266 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=26266 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:26266 http://www.genome.jp/dbget-bin/www_bget?hsa:26266 KEGG_Orthology KO:K14444 http://www.genome.jp/dbget-bin/www_bget?KO:K14444 MIM 604309 http://www.ncbi.nlm.nih.gov/omim/604309 OMA IFVNEDT http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=IFVNEDT OrthoDB EOG091G092X http://cegg.unige.ch/orthodb/results?searchtext=EOG091G092X PSORT swissprot:S13A4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S13A4_HUMAN PSORT-B swissprot:S13A4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S13A4_HUMAN PSORT2 swissprot:S13A4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S13A4_HUMAN Pfam PF00939 http://pfam.xfam.org/family/PF00939 PharmGKB PA38045 http://www.pharmgkb.org/do/serve?objId=PA38045&objCls=Gene Phobius swissprot:S13A4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S13A4_HUMAN PhylomeDB Q9UKG4 http://phylomedb.org/?seqid=Q9UKG4 ProteinModelPortal Q9UKG4 http://www.proteinmodelportal.org/query/uniprot/Q9UKG4 PubMed 10535998 http://www.ncbi.nlm.nih.gov/pubmed/10535998 PubMed 12690205 http://www.ncbi.nlm.nih.gov/pubmed/12690205 PubMed 12853948 http://www.ncbi.nlm.nih.gov/pubmed/12853948 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15607730 http://www.ncbi.nlm.nih.gov/pubmed/15607730 Reactome R-HSA-433137 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-433137 RefSeq NP_001305121 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001305121 RefSeq NP_036582 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_036582 STRING 9606.ENSP00000297282 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000297282&targetmode=cogs TCDB 2.A.47.1.14 http://www.tcdb.org/search/result.php?tc=2.A.47.1.14 UCSC uc003vta http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003vta&org=rat UniGene Hs.490241 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.490241 UniProtKB S13A4_HUMAN http://www.uniprot.org/uniprot/S13A4_HUMAN UniProtKB-AC Q9UKG4 http://www.uniprot.org/uniprot/Q9UKG4 charge swissprot:S13A4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S13A4_HUMAN eggNOG COG0471 http://eggnogapi.embl.de/nog_data/html/tree/COG0471 eggNOG KOG1281 http://eggnogapi.embl.de/nog_data/html/tree/KOG1281 epestfind swissprot:S13A4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S13A4_HUMAN garnier swissprot:S13A4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S13A4_HUMAN helixturnhelix swissprot:S13A4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S13A4_HUMAN hmoment swissprot:S13A4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S13A4_HUMAN iep swissprot:S13A4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S13A4_HUMAN inforesidue swissprot:S13A4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S13A4_HUMAN neXtProt NX_Q9UKG4 http://www.nextprot.org/db/entry/NX_Q9UKG4 octanol swissprot:S13A4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S13A4_HUMAN pepcoil swissprot:S13A4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S13A4_HUMAN pepdigest swissprot:S13A4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S13A4_HUMAN pepinfo swissprot:S13A4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S13A4_HUMAN pepnet swissprot:S13A4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S13A4_HUMAN pepstats swissprot:S13A4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S13A4_HUMAN pepwheel swissprot:S13A4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S13A4_HUMAN pepwindow swissprot:S13A4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S13A4_HUMAN sigcleave swissprot:S13A4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S13A4_HUMAN ## Database ID URL or Descriptions # AltName IMA8_HUMAN Karyopherin subunit alpha-7 # BioGrid 135514 3 # Ensembl ENST00000327442 ENSP00000330878; ENSG00000185467 # FUNCTION IMA8_HUMAN Functions in nuclear protein import. {ECO 0000250}. # GO_component GO:0005643 nuclear pore; IBA:GO_Central. # GO_component GO:0005654 nucleoplasm; IBA:GO_Central. # GO_component GO:0005829 cytosol; IBA:GO_Central. # GO_function GO:0008139 nuclear localization sequence binding; IBA:GO_Central. # GO_function GO:0008565 protein transporter activity; IBA:GO_Central. # GO_process GO:0006607 NLS-bearing protein import into nucleus; IBA:GO_Central. # GO_process GO:0019054 modulation by virus of host process; TAS:Reactome. # GO_process GO:0075733 intracellular transport of virus; TAS:Reactome. # GOslim_component GO:0005654 nucleoplasm # GOslim_component GO:0005829 cytosol # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0008565 protein transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0006913 nucleocytoplasmic transport # GOslim_process GO:0044403 symbiosis, encompassing mutualism through parasitism # Gene3D 1.25.10.10 -; 1. # HGNC HGNC:21839 KPNA7 # InterPro IPR000225 Armadillo # InterPro IPR002652 Importin-a_IBB # InterPro IPR011989 ARM-like # InterPro IPR016024 ARM-type_fold # InterPro IPR024931 Importing_su_alpha # InterPro IPR032413 Arm_3 # MIM 614107 gene # Organism IMA8_HUMAN Homo sapiens (Human) # Orphanet 401959 Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome # PIRSF PIRSF005673 Importin_alpha # PROSITE PS50176 ARM_REPEAT; 5 # PROSITE PS51214 IBB # Pfam PF00514 Arm; 7 # Pfam PF01749 IBB # Pfam PF16186 Arm_3 # Proteomes UP000005640 Chromosome 7 # Reactome R-HSA-1169408 ISG15 antiviral mechanism # Reactome R-HSA-168276 NS1 Mediated Effects on Host Pathways # RecName IMA8_HUMAN Importin subunit alpha-8 # RefSeq NP_001139187 NM_001145715.2 # SEQUENCE CAUTION Sequence=EAL23884.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the importin alpha family. {ECO 0000305}. # SIMILARITY Contains 1 IBB domain. {ECO:0000255|PROSITE- ProRule PRU00561}. # SIMILARITY Contains 8 ARM repeats. {ECO:0000255|PROSITE- ProRule PRU00259}. # SMART SM00185 ARM; 8 # SUBCELLULAR LOCATION IMA8_HUMAN Nucleus {ECO 0000269|PubMed 20701745}. # SUBUNIT IMA8_HUMAN Binds very efficiently to importin subunit beta-1/KPNB1 via the IBB domain; this complex dissociates in the presence of RAN-GTP. Shows a limited binding to the RB1 nuclear localization signal (NLS), but not to the SV40, nor NPM1 NLSs. # SUPFAM SSF48371 SSF48371 # UCSC uc010lft human # eggNOG COG5064 LUCA # eggNOG KOG0166 Eukaryota BLAST swissprot:IMA8_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:IMA8_HUMAN BioCyc ZFISH:G66-32006-MONOMER http://biocyc.org/getid?id=ZFISH:G66-32006-MONOMER COXPRESdb 402569 http://coxpresdb.jp/data/gene/402569.shtml DOI 10.1126/science.1083423 http://dx.doi.org/10.1126/science.1083423 DOI 10.1186/1471-2121-11-63 http://dx.doi.org/10.1186/1471-2121-11-63 EMBL CH236956 http://www.ebi.ac.uk/ena/data/view/CH236956 EMBL EU126604 http://www.ebi.ac.uk/ena/data/view/EU126604 Ensembl ENST00000327442 http://www.ensembl.org/id/ENST00000327442 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005643 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005643 GO_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_function GO:0008139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008139 GO_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GO_process GO:0006607 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006607 GO_process GO:0019054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019054 GO_process GO:0075733 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0075733 GOslim_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006913 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006913 GOslim_process GO:0044403 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044403 Gene3D 1.25.10.10 http://www.cathdb.info/version/latest/superfamily/1.25.10.10 GeneCards KPNA7 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KPNA7 GeneID 402569 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=402569 GeneTree ENSGT00760000119094 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119094 HGNC HGNC:21839 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:21839 HOGENOM HOG000167616 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000167616&db=HOGENOM6 HOVERGEN HBG001846 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG001846&db=HOVERGEN HPA HPA031395 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA031395 InParanoid A9QM74 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=A9QM74 InterPro IPR000225 http://www.ebi.ac.uk/interpro/entry/IPR000225 InterPro IPR002652 http://www.ebi.ac.uk/interpro/entry/IPR002652 InterPro IPR011989 http://www.ebi.ac.uk/interpro/entry/IPR011989 InterPro IPR016024 http://www.ebi.ac.uk/interpro/entry/IPR016024 InterPro IPR024931 http://www.ebi.ac.uk/interpro/entry/IPR024931 InterPro IPR032413 http://www.ebi.ac.uk/interpro/entry/IPR032413 Jabion 402569 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=402569 KEGG_Gene hsa:402569 http://www.genome.jp/dbget-bin/www_bget?hsa:402569 MIM 614107 http://www.ncbi.nlm.nih.gov/omim/614107 OMA NKNPYPC http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=NKNPYPC Orphanet 401959 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=401959 OrthoDB EOG091G095Z http://cegg.unige.ch/orthodb/results?searchtext=EOG091G095Z PROSITE PS50176 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50176 PROSITE PS51214 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51214 PSORT swissprot:IMA8_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:IMA8_HUMAN PSORT-B swissprot:IMA8_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:IMA8_HUMAN PSORT2 swissprot:IMA8_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:IMA8_HUMAN Pfam PF00514 http://pfam.xfam.org/family/PF00514 Pfam PF01749 http://pfam.xfam.org/family/PF01749 Pfam PF16186 http://pfam.xfam.org/family/PF16186 PharmGKB PA164722048 http://www.pharmgkb.org/do/serve?objId=PA164722048&objCls=Gene Phobius swissprot:IMA8_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:IMA8_HUMAN PhylomeDB A9QM74 http://phylomedb.org/?seqid=A9QM74 ProteinModelPortal A9QM74 http://www.proteinmodelportal.org/query/uniprot/A9QM74 PubMed 12690205 http://www.ncbi.nlm.nih.gov/pubmed/12690205 PubMed 20701745 http://www.ncbi.nlm.nih.gov/pubmed/20701745 Reactome R-HSA-1169408 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1169408 Reactome R-HSA-168276 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-168276 RefSeq NP_001139187 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001139187 SMART SM00185 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00185 SMR A9QM74 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=A9QM74 STRING 9606.ENSP00000330878 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000330878&targetmode=cogs SUPFAM SSF48371 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48371 UCSC uc010lft http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc010lft&org=rat UniGene Hs.253050 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.253050 UniProtKB IMA8_HUMAN http://www.uniprot.org/uniprot/IMA8_HUMAN UniProtKB-AC A9QM74 http://www.uniprot.org/uniprot/A9QM74 charge swissprot:IMA8_HUMAN http://rest.g-language.org/emboss/charge/swissprot:IMA8_HUMAN eggNOG COG5064 http://eggnogapi.embl.de/nog_data/html/tree/COG5064 eggNOG KOG0166 http://eggnogapi.embl.de/nog_data/html/tree/KOG0166 epestfind swissprot:IMA8_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:IMA8_HUMAN garnier swissprot:IMA8_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:IMA8_HUMAN helixturnhelix swissprot:IMA8_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:IMA8_HUMAN hmoment swissprot:IMA8_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:IMA8_HUMAN iep swissprot:IMA8_HUMAN http://rest.g-language.org/emboss/iep/swissprot:IMA8_HUMAN inforesidue swissprot:IMA8_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:IMA8_HUMAN neXtProt NX_A9QM74 http://www.nextprot.org/db/entry/NX_A9QM74 octanol swissprot:IMA8_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:IMA8_HUMAN pepcoil swissprot:IMA8_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:IMA8_HUMAN pepdigest swissprot:IMA8_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:IMA8_HUMAN pepinfo swissprot:IMA8_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:IMA8_HUMAN pepnet swissprot:IMA8_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:IMA8_HUMAN pepstats swissprot:IMA8_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:IMA8_HUMAN pepwheel swissprot:IMA8_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:IMA8_HUMAN pepwindow swissprot:IMA8_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:IMA8_HUMAN sigcleave swissprot:IMA8_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:IMA8_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS AP3S2_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=P59780-1; Sequence=Displayed; Name=C15orf38-AP3S2; IsoId=Q7Z6K5-2; Sequence=External; Note=Based on a naturally occurring readthrough transcript which produces a C15orf38-AP3S2 fusion protein.; Name=3; IsoId=P59780-2; Sequence=VSP_053673, VSP_053674; Note=No experimental confirmation available.; # AltName AP3S2_HUMAN AP-3 complex subunit sigma-3B # AltName AP3S2_HUMAN Adaptor-related protein complex 3 subunit sigma-2 # AltName AP3S2_HUMAN Sigma-3B-adaptin # AltName AP3S2_HUMAN Sigma-adaptin 3b # BioGrid 115533 12 # CCDS CCDS10357 -. [P59780-1] # ChiTaRS AP3S2 human # Ensembl ENST00000336418 ENSP00000338777; ENSG00000157823. [P59780-1] # Ensembl ENST00000423566 ENSP00000394170; ENSG00000157823. [P59780-2] # Ensembl ENST00000560251 ENSP00000453288; ENSG00000157823. [P59780-2] # ExpressionAtlas P59780 baseline and differential # FUNCTION AP3S2_HUMAN Part of the AP-3 complex, an adaptor-related complex which is not clathrin-associated. The complex is associated with the Golgi region as well as more peripheral structures. It facilitates the budding of vesicles from the Golgi membrane and may be directly involved in trafficking to lysosomes. In concert with the BLOC-1 complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. # GO_component GO:0005794 Golgi apparatus; TAS:ProtInc. # GO_component GO:0030123 AP-3 adaptor complex; IDA:FlyBase. # GO_component GO:0030659 cytoplasmic vesicle membrane; IEA:UniProtKB-SubCell. # GO_component GO:0043231 intracellular membrane-bounded organelle; IDA:HPA. # GO_component GO:1904115 axon cytoplasm; IEA:GOC. # GO_function GO:0008565 protein transporter activity; IEA:InterPro. # GO_process GO:0006886 intracellular protein transport; TAS:ProtInc. # GO_process GO:0008089 anterograde axonal transport; ISS:UniProtKB. # GO_process GO:0048490 anterograde synaptic vesicle transport; ISS:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005794 Golgi apparatus # GOslim_component GO:0043226 organelle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0008565 protein transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0016192 vesicle-mediated transport # GOslim_process GO:0030705 cytoskeleton-dependent intracellular transport # Genevisible P59780 HS # HGNC HGNC:571 AP3S2 # IntAct P59780 2 # InterPro IPR000804 Clathrin_sm-chain_CS # InterPro IPR011012 Longin-like_dom # InterPro IPR016635 AP_complex_ssu # InterPro IPR022775 AP_mu_sigma_su # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Pathway ko04142 Lysosome # MIM 602416 gene # Organism AP3S2_HUMAN Homo sapiens (Human) # PANTHER PTHR11753 PTHR11753 # PROSITE PS00989 CLAT_ADAPTOR_S # Pfam PF01217 Clat_adaptor_s # Proteomes UP000005640 Chromosome 15 # RecName AP3S2_HUMAN AP-3 complex subunit sigma-2 # RefSeq NP_005820 NM_005829.4. [P59780-1] # SIMILARITY Belongs to the adaptor complexes small subunit family. {ECO 0000305}. # SUBCELLULAR LOCATION AP3S2_HUMAN Golgi apparatus. Cytoplasmic vesicle membrane {ECO 0000250}; Peripheral membrane protein {ECO 0000250}; Cytoplasmic side {ECO 0000250}. Note=Component of the coat surrounding the cytoplasmic face of coated vesicles located at the Golgi complex. {ECO 0000250}. # SUBUNIT Adaptor protein complex 3 (AP-3) is a heterotetramer composed of two large adaptins (delta-type subunit AP3D1 and beta- type subunit AP3B1 or AP3B2), a medium adaptin (mu-type subunit AP3M1 or AP3M2) and a small adaptin (sigma-type subunit APS1 or AP3S2). Interacts with AGAP1. AP-3 associates with the BLOC-1 complex (By similarity). {ECO 0000250}. # SUPFAM SSF64356 SSF64356 # TISSUE SPECIFICITY Present in all adult tissues examined. {ECO:0000269|PubMed 9118953}. # UCSC uc002boq human. [P59780-1] # eggNOG COG5030 LUCA # eggNOG KOG0936 Eukaryota BLAST swissprot:AP3S2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:AP3S2_HUMAN BioCyc ZFISH:G66-31962-MONOMER http://biocyc.org/getid?id=ZFISH:G66-31962-MONOMER COXPRESdb 10239 http://coxpresdb.jp/data/gene/10239.shtml CleanEx HS_AP3S2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_AP3S2 DOI 10.1038/nature04601 http://dx.doi.org/10.1038/nature04601 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1093/emboj/16.5.917 http://dx.doi.org/10.1093/emboj/16.5.917 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AC018988 http://www.ebi.ac.uk/ena/data/view/AC018988 EMBL AC027176 http://www.ebi.ac.uk/ena/data/view/AC027176 EMBL AK222698 http://www.ebi.ac.uk/ena/data/view/AK222698 EMBL AK294712 http://www.ebi.ac.uk/ena/data/view/AK294712 EMBL AK312467 http://www.ebi.ac.uk/ena/data/view/AK312467 EMBL BC002785 http://www.ebi.ac.uk/ena/data/view/BC002785 EMBL BC010020 http://www.ebi.ac.uk/ena/data/view/BC010020 EMBL CH471101 http://www.ebi.ac.uk/ena/data/view/CH471101 EMBL X99459 http://www.ebi.ac.uk/ena/data/view/X99459 Ensembl ENST00000336418 http://www.ensembl.org/id/ENST00000336418 Ensembl ENST00000423566 http://www.ensembl.org/id/ENST00000423566 Ensembl ENST00000560251 http://www.ensembl.org/id/ENST00000560251 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GO_component GO:0030123 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030123 GO_component GO:0030659 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030659 GO_component GO:0043231 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043231 GO_component GO:1904115 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1904115 GO_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GO_process GO:0006886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006886 GO_process GO:0008089 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008089 GO_process GO:0048490 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048490 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0016192 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016192 GOslim_process GO:0030705 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030705 GeneCards AP3S2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=AP3S2 GeneID 10239 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=10239 GeneTree ENSGT00550000074761 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074761 HGNC HGNC:571 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:571 HOGENOM HOG000185228 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000185228&db=HOGENOM6 HOVERGEN HBG050517 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050517&db=HOVERGEN HPA HPA049270 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA049270 InParanoid P59780 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P59780 IntAct P59780 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P59780* InterPro IPR000804 http://www.ebi.ac.uk/interpro/entry/IPR000804 InterPro IPR011012 http://www.ebi.ac.uk/interpro/entry/IPR011012 InterPro IPR016635 http://www.ebi.ac.uk/interpro/entry/IPR016635 InterPro IPR022775 http://www.ebi.ac.uk/interpro/entry/IPR022775 Jabion 10239 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=10239 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Gene hsa:10239 http://www.genome.jp/dbget-bin/www_bget?hsa:10239 KEGG_Orthology KO:K12399 http://www.genome.jp/dbget-bin/www_bget?KO:K12399 KEGG_Pathway ko04142 http://www.genome.jp/kegg-bin/show_pathway?ko04142 MIM 602416 http://www.ncbi.nlm.nih.gov/omim/602416 PANTHER PTHR11753 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11753 PROSITE PS00989 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00989 PSORT swissprot:AP3S2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:AP3S2_HUMAN PSORT-B swissprot:AP3S2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:AP3S2_HUMAN PSORT2 swissprot:AP3S2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:AP3S2_HUMAN Pfam PF01217 http://pfam.xfam.org/family/PF01217 PharmGKB PA24863 http://www.pharmgkb.org/do/serve?objId=PA24863&objCls=Gene Phobius swissprot:AP3S2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:AP3S2_HUMAN PhylomeDB P59780 http://phylomedb.org/?seqid=P59780 ProteinModelPortal P59780 http://www.proteinmodelportal.org/query/uniprot/P59780 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16572171 http://www.ncbi.nlm.nih.gov/pubmed/16572171 PubMed 9118953 http://www.ncbi.nlm.nih.gov/pubmed/9118953 RefSeq NP_005820 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_005820 SMR P59780 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P59780 STRING 9606.ENSP00000338777 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000338777&targetmode=cogs SUPFAM SSF64356 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF64356 UCSC uc002boq http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002boq&org=rat UniGene Hs.632161 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.632161 UniProtKB AP3S2_HUMAN http://www.uniprot.org/uniprot/AP3S2_HUMAN UniProtKB-AC P59780 http://www.uniprot.org/uniprot/P59780 charge swissprot:AP3S2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:AP3S2_HUMAN eggNOG COG5030 http://eggnogapi.embl.de/nog_data/html/tree/COG5030 eggNOG KOG0936 http://eggnogapi.embl.de/nog_data/html/tree/KOG0936 epestfind swissprot:AP3S2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:AP3S2_HUMAN garnier swissprot:AP3S2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:AP3S2_HUMAN helixturnhelix swissprot:AP3S2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:AP3S2_HUMAN hmoment swissprot:AP3S2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:AP3S2_HUMAN iep swissprot:AP3S2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:AP3S2_HUMAN inforesidue swissprot:AP3S2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:AP3S2_HUMAN neXtProt NX_P59780 http://www.nextprot.org/db/entry/NX_P59780 octanol swissprot:AP3S2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:AP3S2_HUMAN pepcoil swissprot:AP3S2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:AP3S2_HUMAN pepdigest swissprot:AP3S2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:AP3S2_HUMAN pepinfo swissprot:AP3S2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:AP3S2_HUMAN pepnet swissprot:AP3S2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:AP3S2_HUMAN pepstats swissprot:AP3S2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:AP3S2_HUMAN pepwheel swissprot:AP3S2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:AP3S2_HUMAN pepwindow swissprot:AP3S2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:AP3S2_HUMAN sigcleave swissprot:AP3S2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:AP3S2_HUMAN ## Database ID URL or Descriptions # AltName S6A12_HUMAN BGT-1 # AltName S6A12_HUMAN Na(+)/Cl(-) betaine/GABA transporter # AltName S6A12_HUMAN Solute carrier family 6 member 12 # BioGrid 112430 2 # Ensembl ENST00000359674 ENSP00000352702; ENSG00000111181 # Ensembl ENST00000397296 ENSP00000380464; ENSG00000111181 # Ensembl ENST00000424061 ENSP00000399136; ENSG00000111181 # Ensembl ENST00000536824 ENSP00000444268; ENSG00000111181 # ExpressionAtlas P48065 baseline and differential # FUNCTION S6A12_HUMAN Transports betaine and GABA. May have a role in regulation of GABAergic transmission in the brain through the reuptake of GABA into presynaptic terminals, as well as in osmotic regulation. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0016021 integral component of membrane; TAS:ProtInc. # GO_component GO:0043005 neuron projection; IBA:GO_Central. # GO_function GO:0015171 amino acid transmembrane transporter activity; TAS:Reactome. # GO_function S6A12_HUMAN GO 0005328 neurotransmitter sodium symporter activity; IEA InterPro. # GO_function S6A12_HUMAN GO 0005332 gamma-aminobutyric acid sodium symporter activity; IBA GO_Central. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0006836 neurotransmitter transport; IBA:GO_Central. # GO_process GO:0006865 amino acid transport; TAS:Reactome. # GO_process GO:0007268 chemical synaptic transmission; IBA:GO_Central. # GO_process GO:0015812 gamma-aminobutyric acid transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007267 cell-cell signaling # Genevisible P48065 HS # HGNC HGNC:11045 SLC6A12 # INTERACTION S6A12_HUMAN Q04864 REL; NbExp=3; IntAct=EBI-3843589, EBI-307352; # IntAct P48065 2 # InterPro IPR000175 Na/ntran_symport # InterPro IPR002983 Na/ntran_symport_betaine # KEGG_Brite ko02001 Solute carrier family # KEGG_Brite ko04040 Ion channels # MIM 603080 gene # Organism S6A12_HUMAN Homo sapiens (Human) # PANTHER PTHR11616 PTHR11616 # PIR S68236 S68236 # PRINTS PR00176 NANEUSMPORT # PRINTS PR01198 BETTRANSPORT # PROSITE PS00610 NA_NEUROTRAN_SYMP_1 # PROSITE PS00754 NA_NEUROTRAN_SYMP_2 # PROSITE PS50267 NA_NEUROTRAN_SYMP_3 # Pfam PF00209 SNF # Proteomes UP000005640 Chromosome 12 # Reactome R-HSA-352230 Amino acid transport across the plasma membrane # Reactome R-HSA-442660 Na+/Cl- dependent neurotransmitter transporters # Reactome R-HSA-71288 Creatine metabolism # Reactome R-HSA-888593 Reuptake of GABA # RecName S6A12_HUMAN Sodium- and chloride-dependent betaine transporter # RefSeq NP_001116319 NM_001122847.2 # RefSeq NP_001116320 NM_001122848.2 # RefSeq NP_001193860 NM_001206931.1 # RefSeq NP_003035 NM_003044.4 # RefSeq XP_011519312 XM_011521010.1 # SIMILARITY Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A12 subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION S6A12_HUMAN Membrane; Multi-pass membrane protein. # SUBUNIT Interacts with LIN7C. {ECO 0000250}. # TCDB 2.A.22.3:the neurotransmitter sodium symporter (nss) family # TISSUE SPECIFICITY S6A12_HUMAN Liver, heart, skeletal muscle, placenta, and a widespread distribution in the brain. # UCSC uc001qhz human # eggNOG COG0733 LUCA # eggNOG KOG3659 Eukaryota BLAST swissprot:S6A12_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S6A12_HUMAN BioCyc ZFISH:ENSG00000111181-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000111181-MONOMER COXPRESdb 6539 http://coxpresdb.jp/data/gene/6539.shtml CleanEx HS_SLC6A12 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC6A12 DOI 10.1016/0014-5793(95)01052-G http://dx.doi.org/10.1016/0014-5793(95)01052-G DOI 10.1038/nature04569 http://dx.doi.org/10.1038/nature04569 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AC007406 http://www.ebi.ac.uk/ena/data/view/AC007406 EMBL AK313690 http://www.ebi.ac.uk/ena/data/view/AK313690 EMBL BC126215 http://www.ebi.ac.uk/ena/data/view/BC126215 EMBL BC126217 http://www.ebi.ac.uk/ena/data/view/BC126217 EMBL CH471116 http://www.ebi.ac.uk/ena/data/view/CH471116 EMBL CH471116 http://www.ebi.ac.uk/ena/data/view/CH471116 EMBL CH471116 http://www.ebi.ac.uk/ena/data/view/CH471116 EMBL CH471116 http://www.ebi.ac.uk/ena/data/view/CH471116 EMBL L42300 http://www.ebi.ac.uk/ena/data/view/L42300 EMBL U27699 http://www.ebi.ac.uk/ena/data/view/U27699 Ensembl ENST00000359674 http://www.ensembl.org/id/ENST00000359674 Ensembl ENST00000397296 http://www.ensembl.org/id/ENST00000397296 Ensembl ENST00000424061 http://www.ensembl.org/id/ENST00000424061 Ensembl ENST00000536824 http://www.ensembl.org/id/ENST00000536824 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0043005 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043005 GO_function GO:0005328 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005328 GO_function GO:0005332 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005332 GO_function GO:0015171 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015171 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0006836 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006836 GO_process GO:0006865 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006865 GO_process GO:0007268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007268 GO_process GO:0015812 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015812 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GeneCards SLC6A12 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC6A12 GeneID 6539 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6539 GeneTree ENSGT00760000118857 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118857 H-InvDB HIX0037041 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0037041 H-InvDB HIX0201858 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0201858 HGNC HGNC:11045 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11045 HOGENOM HOG000116406 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000116406&db=HOGENOM6 HOVERGEN HBG071421 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG071421&db=HOVERGEN HPA HPA034973 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA034973 InParanoid P48065 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P48065 IntAct P48065 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P48065* InterPro IPR000175 http://www.ebi.ac.uk/interpro/entry/IPR000175 InterPro IPR002983 http://www.ebi.ac.uk/interpro/entry/IPR002983 Jabion 6539 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6539 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:6539 http://www.genome.jp/dbget-bin/www_bget?hsa:6539 KEGG_Orthology KO:K05039 http://www.genome.jp/dbget-bin/www_bget?KO:K05039 MIM 603080 http://www.ncbi.nlm.nih.gov/omim/603080 OMA NFTSPVM http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=NFTSPVM OrthoDB EOG091G08PX http://cegg.unige.ch/orthodb/results?searchtext=EOG091G08PX PANTHER PTHR11616 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11616 PRINTS PR00176 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00176 PRINTS PR01198 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01198 PROSITE PS00610 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00610 PROSITE PS00754 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00754 PROSITE PS50267 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50267 PSORT swissprot:S6A12_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S6A12_HUMAN PSORT-B swissprot:S6A12_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S6A12_HUMAN PSORT2 swissprot:S6A12_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S6A12_HUMAN Pfam PF00209 http://pfam.xfam.org/family/PF00209 PharmGKB PA35908 http://www.pharmgkb.org/do/serve?objId=PA35908&objCls=Gene Phobius swissprot:S6A12_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S6A12_HUMAN PhylomeDB P48065 http://phylomedb.org/?seqid=P48065 ProteinModelPortal P48065 http://www.proteinmodelportal.org/query/uniprot/P48065 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16541075 http://www.ncbi.nlm.nih.gov/pubmed/16541075 PubMed 7589472 http://www.ncbi.nlm.nih.gov/pubmed/7589472 PubMed 7861179 http://www.ncbi.nlm.nih.gov/pubmed/7861179 Reactome R-HSA-352230 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-352230 Reactome R-HSA-442660 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-442660 Reactome R-HSA-71288 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-71288 Reactome R-HSA-888593 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-888593 RefSeq NP_001116319 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001116319 RefSeq NP_001116320 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001116320 RefSeq NP_001193860 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001193860 RefSeq NP_003035 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_003035 RefSeq XP_011519312 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011519312 SMR P48065 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P48065 STRING 9606.ENSP00000352702 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000352702&targetmode=cogs TCDB 2.A.22.3 http://www.tcdb.org/search/result.php?tc=2.A.22.3 UCSC uc001qhz http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001qhz&org=rat UniGene Hs.437174 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.437174 UniGene Hs.737267 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.737267 UniProtKB S6A12_HUMAN http://www.uniprot.org/uniprot/S6A12_HUMAN UniProtKB-AC P48065 http://www.uniprot.org/uniprot/P48065 charge swissprot:S6A12_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S6A12_HUMAN eggNOG COG0733 http://eggnogapi.embl.de/nog_data/html/tree/COG0733 eggNOG KOG3659 http://eggnogapi.embl.de/nog_data/html/tree/KOG3659 epestfind swissprot:S6A12_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S6A12_HUMAN garnier swissprot:S6A12_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S6A12_HUMAN helixturnhelix swissprot:S6A12_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S6A12_HUMAN hmoment swissprot:S6A12_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S6A12_HUMAN iep swissprot:S6A12_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S6A12_HUMAN inforesidue swissprot:S6A12_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S6A12_HUMAN neXtProt NX_P48065 http://www.nextprot.org/db/entry/NX_P48065 octanol swissprot:S6A12_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S6A12_HUMAN pepcoil swissprot:S6A12_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S6A12_HUMAN pepdigest swissprot:S6A12_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S6A12_HUMAN pepinfo swissprot:S6A12_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S6A12_HUMAN pepnet swissprot:S6A12_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S6A12_HUMAN pepstats swissprot:S6A12_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S6A12_HUMAN pepwheel swissprot:S6A12_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S6A12_HUMAN pepwindow swissprot:S6A12_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S6A12_HUMAN sigcleave swissprot:S6A12_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S6A12_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS RYR3_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q15413-1; Sequence=Displayed; Name=2; IsoId=Q15413-2; Sequence=VSP_005954; Name=3; IsoId=Q15413-3; Sequence=VSP_005955, VSP_005956; # AltName RYR3_HUMAN Brain ryanodine receptor-calcium release channel # AltName RYR3_HUMAN Brain-type ryanodine receptor # AltName RYR3_HUMAN Type 3 ryanodine receptor # BioGrid 112175 6 # CCDS CCDS45210 -. [Q15413-1] # CCDS CCDS58351 -. [Q15413-2] # ChiTaRS RYR3 human # DOMAIN RYR3_HUMAN The calcium release channel activity resides in the C- terminal region while the remaining part of the protein resides in the cytoplasm. {ECO 0000305}. # Ensembl ENST00000415757 ENSP00000399610; ENSG00000198838. [Q15413-2] # Ensembl ENST00000634891 ENSP00000489262; ENSG00000198838. [Q15413-1] # ExpressionAtlas Q15413 baseline and differential # FUNCTION RYR3_HUMAN Calcium channel that mediates the release of Ca(2+) from the sarcoplasmic reticulum into the cytoplasm in muscle and thereby plays a role in triggering muscle contraction. May regulate Ca(2+) release by other calcium channels. Calcium channel that mediates Ca(2+)-induced Ca(2+) release from the endoplasmic reticulum in non-muscle cells. Contributes to cellular calcium ion homeostasis (By similarity). Plays a role in cellular calcium signaling. {ECO 0000250, ECO 0000269|PubMed 12354756}. # GO_component GO:0005790 smooth endoplasmic reticulum; IBA:GO_Central. # GO_component GO:0016021 integral component of membrane; ISS:UniProtKB. # GO_component GO:0016529 sarcoplasmic reticulum; ISS:UniProtKB. # GO_component GO:0030018 Z disc; IBA:GO_Central. # GO_component GO:0033017 sarcoplasmic reticulum membrane; ISS:UniProtKB. # GO_component GO:0034704 calcium channel complex; IBA:GO_Central. # GO_component GO:0042383 sarcolemma; IBA:GO_Central. # GO_component GO:0048471 perinuclear region of cytoplasm; IEA:Ensembl. # GO_function GO:0005219 ryanodine-sensitive calcium-release channel activity; ISS:UniProtKB. # GO_function GO:0005509 calcium ion binding; IBA:GO_Central. # GO_function GO:0015278 calcium-release channel activity; IMP:UniProtKB. # GO_function GO:0048763 calcium-induced calcium release activity; IBA:GO_Central. # GO_process GO:0006816 calcium ion transport; IMP:UniProtKB. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0051289 protein homotetramerization; ISS:UniProtKB. # GO_process GO:0051481 negative regulation of cytosolic calcium ion concentration; IEA:Ensembl. # GO_process GO:0070588 calcium ion transmembrane transport; ISS:UniProtKB. # GO_process GO:0071277 cellular response to calcium ion; ISS:UniProtKB. # GO_process GO:0071286 cellular response to magnesium ion; ISS:UniProtKB. # GO_process GO:0071313 cellular response to caffeine; ISS:UniProtKB. # GO_process GO:0071318 cellular response to ATP; ISS:UniProtKB. # GO_process GO:1903779 regulation of cardiac conduction; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.10.238.10 -; 1. # Gene3D 1.25.10.30 -; 1. # Genevisible Q15413 HS # HGNC HGNC:10485 RYR3 # IntAct Q15413 2 # InterPro IPR000699 RIH_dom # InterPro IPR001870 B30.2/SPRY # InterPro IPR002048 EF_hand_dom # InterPro IPR003032 Ryanodine_rcpt # InterPro IPR003877 SPRY_dom # InterPro IPR005821 Ion_trans_dom # InterPro IPR009460 Ryanrecept_TM4-6 # InterPro IPR011992 EF-hand-dom_pair # InterPro IPR013320 ConA-like_dom # InterPro IPR013333 Ryan_recept # InterPro IPR013662 RIH_assoc-dom # InterPro IPR014821 Ins145_P3_rcpt # InterPro IPR015925 Ryanodine_recept-rel # InterPro IPR016024 ARM-type_fold # InterPro IPR016093 MIR_motif # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02000 Transporters # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04020 Calcium signaling pathway # KEGG_Pathway ko04713 Circadian entrainment # KEGG_Pathway ko04970 Salivary secretion # KEGG_Pathway ko05010 Alzheimer's disease # MIM 180903 gene # MISCELLANEOUS Channel activity is modulated by the alkaloid ryanodine that binds to the open calcium-release channel with high affinity. At low concentrations, ryanodine maintains the channel in an open conformation. High ryanodine concentrations inhibit channel activity. Channel activity is regulated by calmodulin (CALM). The calcium release is activated by elevated cytoplasmic calcium levels in the micromolar range, by caffeine and adenine nucleotides, such as AMP and ATP. Inhibited by Mg(2+) and ruthenium red (By similarity). {ECO 0000250}. # Organism RYR3_HUMAN Homo sapiens (Human) # PANTHER PTHR13715 PTHR13715; 6 # PDB 4ERV X-ray; 1.75 A; A=2597-2800 # PIR S37537 S37537 # PIR S66631 S66631 # PRINTS PR00795 RYANODINER # PROSITE PS50188 B302_SPRY; 3 # PROSITE PS50919 MIR; 5 # Pfam PF00520 Ion_trans # Pfam PF00622 SPRY; 3 # Pfam PF01365 RYDR_ITPR; 2 # Pfam PF02026 RyR; 4 # Pfam PF02815 MIR # Pfam PF06459 RR_TM4-6 # Pfam PF08454 RIH_assoc # Pfam PF08709 Ins145_P3_rec # Proteomes UP000005640 Chromosome 15 # Reactome R-HSA-2672351 Stimuli-sensing channels # Reactome R-HSA-5578775 Ion homeostasis # RecName RYR3_HUMAN Ryanodine receptor 3 # RefSeq NP_001027 NM_001036.4. [Q15413-1] # RefSeq NP_001230925 NM_001243996.2. [Q15413-2] # SEQUENCE CAUTION Sequence=BAA23795.1; Type=Frameshift; Positions=742, 766; Evidence={ECO 0000305}; # SIMILARITY Belongs to the ryanodine receptor (TC 1.A.3.1) family. RYR3 subfamily. {ECO 0000305}. # SIMILARITY Contains 3 B30.2/SPRY domains. {ECO:0000255|PROSITE- ProRule PRU00548}. # SIMILARITY Contains 5 MIR domains. {ECO:0000255|PROSITE- ProRule PRU00131}. # SMART SM00449 SPRY; 3 # SMART SM00472 MIR; 4 # SUBCELLULAR LOCATION RYR3_HUMAN Sarcoplasmic reticulum membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. Microsome membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. Sarcoplasmic reticulum {ECO 0000250|UniProtKB Q9TS33}. Note=The number of predicted transmembrane domains varies between orthologs, but both N- terminus and C-terminus seem to be cytoplasmic. {ECO 0000250}. # SUBUNIT RYR3_HUMAN Homotetramer. Heterotetramer with RYR2. Interacts with CALM (By similarity). Interacts with FKBP1A. Interacts with SEPN1 (By similarity). {ECO 0000250|UniProtKB Q9TS33, ECO 0000269|PubMed 22100703}. # SUPFAM SSF100909 SSF100909 # SUPFAM SSF47473 SSF47473 # SUPFAM SSF48371 SSF48371; 10 # SUPFAM SSF49899 SSF49899; 3 # SUPFAM SSF82109 SSF82109; 2 # TISSUE SPECIFICITY RYR3_HUMAN Brain, skeletal muscle, placenta and possibly liver and kidney. In brain, highest levels are found in the cerebellum, hippocampus, caudate nucleus and amygdala, with lower levels in the corpus callosum, substantia nigra and thalamus. {ECO 0000269|PubMed 9395096, ECO 0000269|PubMed 9607712}. # UCSC uc001zhi human. [Q15413-1] # WEB RESOURCE RYR3_HUMAN Name=Wikipedia; Note=Ryanodine receptor entry; URL="https //en.wikipedia.org/wiki/Ryanodine_receptor"; # eggNOG ENOG410YCNW LUCA # eggNOG KOG2243 Eukaryota BLAST swissprot:RYR3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:RYR3_HUMAN BioCyc ZFISH:G66-31928-MONOMER http://biocyc.org/getid?id=ZFISH:G66-31928-MONOMER COXPRESdb 6263 http://coxpresdb.jp/data/gene/6263.shtml CleanEx HS_RYR3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_RYR3 DOI 10.1006/geno.1993.1446 http://dx.doi.org/10.1006/geno.1993.1446 DOI 10.1016/0014-5793(94)00955-4 http://dx.doi.org/10.1016/0014-5793(94)00955-4 DOI 10.1016/0014-5793(95)00924-X http://dx.doi.org/10.1016/0014-5793(95)00924-X DOI 10.1016/S0014-5793(97)01275-1 http://dx.doi.org/10.1016/S0014-5793(97)01275-1 DOI 10.1016/S0014-5793(98)00124-0 http://dx.doi.org/10.1016/S0014-5793(98)00124-0 DOI 10.1016/S0306-4522(97)00612-X http://dx.doi.org/10.1016/S0306-4522(97)00612-X DOI 10.1016/j.abb.2011.11.004 http://dx.doi.org/10.1016/j.abb.2011.11.004 DOI 10.1038/nature04601 http://dx.doi.org/10.1038/nature04601 DOI 10.1074/jbc.M209061200 http://dx.doi.org/10.1074/jbc.M209061200 EMBL AB001025 http://www.ebi.ac.uk/ena/data/view/AB001025 EMBL AC010809 http://www.ebi.ac.uk/ena/data/view/AC010809 EMBL AC011938 http://www.ebi.ac.uk/ena/data/view/AC011938 EMBL AC055874 http://www.ebi.ac.uk/ena/data/view/AC055874 EMBL AC067793 http://www.ebi.ac.uk/ena/data/view/AC067793 EMBL AC087638 http://www.ebi.ac.uk/ena/data/view/AC087638 EMBL AJ001515 http://www.ebi.ac.uk/ena/data/view/AJ001515 EMBL AJ002512 http://www.ebi.ac.uk/ena/data/view/AJ002512 EMBL X74269 http://www.ebi.ac.uk/ena/data/view/X74269 EMBL X74270 http://www.ebi.ac.uk/ena/data/view/X74270 Ensembl ENST00000415757 http://www.ensembl.org/id/ENST00000415757 Ensembl ENST00000634891 http://www.ensembl.org/id/ENST00000634891 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005790 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005790 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0016529 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016529 GO_component GO:0030018 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030018 GO_component GO:0033017 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033017 GO_component GO:0034704 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034704 GO_component GO:0042383 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042383 GO_component GO:0048471 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048471 GO_function GO:0005219 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005219 GO_function GO:0005509 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005509 GO_function GO:0015278 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015278 GO_function GO:0048763 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048763 GO_process GO:0006816 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006816 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0051289 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051289 GO_process GO:0051481 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051481 GO_process GO:0070588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070588 GO_process GO:0071277 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071277 GO_process GO:0071286 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071286 GO_process GO:0071313 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071313 GO_process GO:0071318 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071318 GO_process GO:1903779 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903779 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.10.238.10 http://www.cathdb.info/version/latest/superfamily/1.10.238.10 Gene3D 1.25.10.30 http://www.cathdb.info/version/latest/superfamily/1.25.10.30 GeneCards RYR3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=RYR3 GeneID 6263 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6263 GeneTree ENSGT00760000119152 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119152 H-InvDB HIX0038065 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0038065 HGNC HGNC:10485 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10485 HOGENOM HOG000231428 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231428&db=HOGENOM6 HOVERGEN HBG006699 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG006699&db=HOVERGEN HPA CAB006887 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB006887 InParanoid Q15413 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q15413 IntAct Q15413 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q15413* InterPro IPR000699 http://www.ebi.ac.uk/interpro/entry/IPR000699 InterPro IPR001870 http://www.ebi.ac.uk/interpro/entry/IPR001870 InterPro IPR002048 http://www.ebi.ac.uk/interpro/entry/IPR002048 InterPro IPR003032 http://www.ebi.ac.uk/interpro/entry/IPR003032 InterPro IPR003877 http://www.ebi.ac.uk/interpro/entry/IPR003877 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR009460 http://www.ebi.ac.uk/interpro/entry/IPR009460 InterPro IPR011992 http://www.ebi.ac.uk/interpro/entry/IPR011992 InterPro IPR013320 http://www.ebi.ac.uk/interpro/entry/IPR013320 InterPro IPR013333 http://www.ebi.ac.uk/interpro/entry/IPR013333 InterPro IPR013662 http://www.ebi.ac.uk/interpro/entry/IPR013662 InterPro IPR014821 http://www.ebi.ac.uk/interpro/entry/IPR014821 InterPro IPR015925 http://www.ebi.ac.uk/interpro/entry/IPR015925 InterPro IPR016024 http://www.ebi.ac.uk/interpro/entry/IPR016024 InterPro IPR016093 http://www.ebi.ac.uk/interpro/entry/IPR016093 Jabion 6263 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6263 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:6263 http://www.genome.jp/dbget-bin/www_bget?hsa:6263 KEGG_Orthology KO:K04963 http://www.genome.jp/dbget-bin/www_bget?KO:K04963 KEGG_Pathway ko04020 http://www.genome.jp/kegg-bin/show_pathway?ko04020 KEGG_Pathway ko04713 http://www.genome.jp/kegg-bin/show_pathway?ko04713 KEGG_Pathway ko04970 http://www.genome.jp/kegg-bin/show_pathway?ko04970 KEGG_Pathway ko05010 http://www.genome.jp/kegg-bin/show_pathway?ko05010 MIM 180903 http://www.ncbi.nlm.nih.gov/omim/180903 PANTHER PTHR13715 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR13715 PDB 4ERV http://www.ebi.ac.uk/pdbe-srv/view/entry/4ERV PDBsum 4ERV http://www.ebi.ac.uk/pdbsum/4ERV PRINTS PR00795 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00795 PROSITE PS50188 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50188 PROSITE PS50919 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50919 PSORT swissprot:RYR3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:RYR3_HUMAN PSORT-B swissprot:RYR3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:RYR3_HUMAN PSORT2 swissprot:RYR3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:RYR3_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF00622 http://pfam.xfam.org/family/PF00622 Pfam PF01365 http://pfam.xfam.org/family/PF01365 Pfam PF02026 http://pfam.xfam.org/family/PF02026 Pfam PF02815 http://pfam.xfam.org/family/PF02815 Pfam PF06459 http://pfam.xfam.org/family/PF06459 Pfam PF08454 http://pfam.xfam.org/family/PF08454 Pfam PF08709 http://pfam.xfam.org/family/PF08709 PharmGKB PA34897 http://www.pharmgkb.org/do/serve?objId=PA34897&objCls=Gene Phobius swissprot:RYR3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:RYR3_HUMAN PhylomeDB Q15413 http://phylomedb.org/?seqid=Q15413 ProteinModelPortal Q15413 http://www.proteinmodelportal.org/query/uniprot/Q15413 PubMed 12354756 http://www.ncbi.nlm.nih.gov/pubmed/12354756 PubMed 16572171 http://www.ncbi.nlm.nih.gov/pubmed/16572171 PubMed 22100703 http://www.ncbi.nlm.nih.gov/pubmed/22100703 PubMed 7523185 http://www.ncbi.nlm.nih.gov/pubmed/7523185 PubMed 7556644 http://www.ncbi.nlm.nih.gov/pubmed/7556644 PubMed 8276408 http://www.ncbi.nlm.nih.gov/pubmed/8276408 PubMed 9395096 http://www.ncbi.nlm.nih.gov/pubmed/9395096 PubMed 9515741 http://www.ncbi.nlm.nih.gov/pubmed/9515741 PubMed 9607712 http://www.ncbi.nlm.nih.gov/pubmed/9607712 Reactome R-HSA-2672351 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2672351 Reactome R-HSA-5578775 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5578775 RefSeq NP_001027 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001027 RefSeq NP_001230925 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001230925 SMART SM00449 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00449 SMART SM00472 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00472 SMR Q15413 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q15413 STRING 9606.ENSP00000373884 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000373884&targetmode=cogs SUPFAM SSF100909 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF100909 SUPFAM SSF47473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF47473 SUPFAM SSF48371 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48371 SUPFAM SSF49899 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF49899 SUPFAM SSF82109 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF82109 UCSC uc001zhi http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001zhi&org=rat UniGene Hs.709373 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.709373 UniProtKB RYR3_HUMAN http://www.uniprot.org/uniprot/RYR3_HUMAN UniProtKB-AC Q15413 http://www.uniprot.org/uniprot/Q15413 charge swissprot:RYR3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:RYR3_HUMAN eggNOG ENOG410YCNW http://eggnogapi.embl.de/nog_data/html/tree/ENOG410YCNW eggNOG KOG2243 http://eggnogapi.embl.de/nog_data/html/tree/KOG2243 epestfind swissprot:RYR3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:RYR3_HUMAN garnier swissprot:RYR3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:RYR3_HUMAN helixturnhelix swissprot:RYR3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:RYR3_HUMAN hmoment swissprot:RYR3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:RYR3_HUMAN iep swissprot:RYR3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:RYR3_HUMAN inforesidue swissprot:RYR3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:RYR3_HUMAN neXtProt NX_Q15413 http://www.nextprot.org/db/entry/NX_Q15413 octanol swissprot:RYR3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:RYR3_HUMAN pepcoil swissprot:RYR3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:RYR3_HUMAN pepdigest swissprot:RYR3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:RYR3_HUMAN pepinfo swissprot:RYR3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:RYR3_HUMAN pepnet swissprot:RYR3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:RYR3_HUMAN pepstats swissprot:RYR3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:RYR3_HUMAN pepwheel swissprot:RYR3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:RYR3_HUMAN pepwindow swissprot:RYR3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:RYR3_HUMAN sigcleave swissprot:RYR3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:RYR3_HUMAN ## Database ID URL or Descriptions # AltName NMDE2_HUMAN Glutamate [NMDA] receptor subunit epsilon-2 # AltName NMDE2_HUMAN N-methyl D-aspartate receptor subtype 2B # AltName NMDE2_HUMAN N-methyl-D-aspartate receptor subunit 3 # BioGrid 109161 25 # DISEASE NMDE2_HUMAN Epileptic encephalopathy, early infantile, 27 (EIEE27) [MIM 616139] A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE NMDE2_HUMAN Mental retardation, autosomal dominant 6 (MRD6) [MIM 613970] A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO 0000269|PubMed 20890276, ECO 0000269|PubMed 23033978, ECO 0000269|PubMed 23160955}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE NMDE2_HUMAN Note=A chromosomal aberrations involving GRIN2B has been found in patients with mental retardation. Translocations t(9;12)(p23;p13.1) and t(10;12)(q21.1;p13.1) with a common breakpoint in 12p13.1. # DrugBank DB00289 Atomoxetine # DrugBank DB00312 Pentobarbital # DrugBank DB00418 Secobarbital # DrugBank DB00454 Pethidine # DrugBank DB00502 Haloperidol # DrugBank DB00659 Acamprosate # DrugBank DB00949 Felbamate # DrugBank DB00996 Gabapentin # DrugBank DB01043 Memantine # DrugBank DB01174 Phenobarbital # DrugBank DB04896 Milnacipran # DrugBank DB06151 Acetylcysteine # DrugBank DB06738 Ketobemidone # DrugBank DB08954 Ifenprodil # Ensembl ENST00000609686 ENSP00000477455; ENSG00000273079 # ExpressionAtlas Q13224 baseline and differential # FUNCTION NMDE2_HUMAN NMDA receptor subtype of glutamate-gated ion channels with high calcium permeability and voltage-dependent sensitivity to magnesium. Mediated by glycine. In concert with DAPK1 at extrasynaptic sites, acts as a central mediator for stroke damage. Its phosphorylation at Ser-1303 by DAPK1 enhances synaptic NMDA receptor channel activity inducing injurious Ca2+ influx through them, resulting in an irreversible neuronal death (By similarity). {ECO 0000250}. # GO_component GO:0005622 intracellular; IEA:GOC. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0009986 cell surface; ISS:BHF-UCL. # GO_component GO:0017146 NMDA selective glutamate receptor complex; IDA:UniProtKB. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0043005 neuron projection; ISS:BHF-UCL. # GO_component GO:0045211 postsynaptic membrane; IEA:UniProtKB-SubCell. # GO_function GO:0004972 NMDA glutamate receptor activity; TAS:ProtInc. # GO_function GO:0005088 Ras guanyl-nucleotide exchange factor activity; TAS:Reactome. # GO_function GO:0005234 extracellular-glutamate-gated ion channel activity; IEA:InterPro. # GO_function GO:0008270 zinc ion binding; ISS:UniProtKB. # GO_function GO:0016594 glycine binding; IDA:UniProtKB. # GO_process GO:0000165 MAPK cascade; TAS:Reactome. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0007215 glutamate receptor signaling pathway; TAS:ProtInc. # GO_process GO:0007268 chemical synaptic transmission; TAS:Reactome. # GO_process GO:0007611 learning or memory; TAS:ProtInc. # GO_process GO:0045471 response to ethanol; IDA:UniProtKB. # GO_process GO:0048013 ephrin receptor signaling pathway; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005622 intracellular # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006464 cellular protein modification process # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # GOslim_process GO:0050877 neurological system process # Genevisible Q13224 HS # HGNC HGNC:4586 GRIN2B # INTERACTION NMDE2_HUMAN Q9UQM7 CAMK2A; NbExp=3; IntAct=EBI-2256942, EBI-1383687; Q62936 Dlg3 (xeno); NbExp=4; IntAct=EBI-2256942, EBI-349596; P78352 DLG4; NbExp=2; IntAct=EBI-2256942, EBI-80389; P31016 Dlg4 (xeno); NbExp=2; IntAct=EBI-2256942, EBI-375655; P62139 PPP1CA (xeno); NbExp=2; IntAct=EBI-2256942, EBI-2008988; # IntAct Q13224 13 # InterPro IPR001320 Iontro_rcpt # InterPro IPR001508 Iono_rcpt_met # InterPro IPR001828 ANF_lig-bd_rcpt # InterPro IPR018884 NMDAR2_C # InterPro IPR019594 Glu/Gly-bd # InterPro IPR028082 Peripla_BP_I # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00773 [Congenital disorder; Mental retardation] Autosomal dominant mental retardation # KEGG_Pathway ko04080 Neuroactive ligand-receptor interaction # KEGG_Pathway ko04713 Circadian entrainment # KEGG_Pathway ko04720 Long-term potentiation # KEGG_Pathway ko04724 Glutamatergic synapse # KEGG_Pathway ko04728 Dopaminergic synapse # KEGG_Pathway ko05010 Alzheimer's disease # KEGG_Pathway ko05014 Amyotrophic lateral sclerosis (ALS) # KEGG_Pathway ko05016 Huntington's disease # KEGG_Pathway ko05030 Cocaine addiction # KEGG_Pathway ko05031 Amphetamine addiction # KEGG_Pathway ko05033 Nicotine addiction # KEGG_Pathway ko05034 Alcoholism # KEGG_Pathway ko05322 Systemic lupus erythematosus # MIM 138252 gene # MIM 613970 phenotype # MIM 616139 phenotype # Organism NMDE2_HUMAN Homo sapiens (Human) # Orphanet 178469 Autosomal dominant non-syndromic intellectual disability # Orphanet 3451 West syndrome # PDB 1S11 Model; -; A=403-543, B=660-801 # PDB 1S2S Model; -; A=405-543, B=660-801 # PDB 2IPV Model; -; X=404-768 # PDB 5EWJ X-ray; 2.77 A; B/D=31-394 # PDB 5EWL X-ray; 2.98 A; B/D=31-394 # PDB 5EWM X-ray; 2.76 A; B/D=31-394 # PIR I39066 I39066 # PIR S52086 S52086 # PRINTS PR00177 NMDARECEPTOR # PTM NMDE2_HUMAN Phosphorylation at Ser-1303 by DAPK1 enhances synaptic NMDA receptor channel activity. {ECO 0000250}. # Pfam PF00060 Lig_chan # Pfam PF01094 ANF_receptor # Pfam PF10565 NMDAR2_C # Pfam PF10613 Lig_chan-Glu_bd # Proteomes UP000005640 Chromosome 12 # Reactome R-HSA-3928662 EPHB-mediated forward signaling # Reactome R-HSA-438066 Unblocking of NMDA receptor, glutamate binding and activation # Reactome R-HSA-442729 CREB phosphorylation through the activation of CaMKII # Reactome R-HSA-442982 Ras activation uopn Ca2+ infux through NMDA receptor # Reactome R-HSA-5673001 RAF/MAP kinase cascade # Reactome R-HSA-6794361 Interactions of neurexins and neuroligins at synapses # Reactome R-HSA-8849932 SALM protein interactions at the synapses # RecName NMDE2_HUMAN Glutamate receptor ionotropic, NMDA 2B # RefSeq NP_000825 NM_000834.3 # RefSeq XP_011518930 XM_011520628.2 # RefSeq XP_011518931 XM_011520629.2 # RefSeq XP_016874708 XM_017019219.1 # SIMILARITY Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. NR2B/GRIN2B subfamily. {ECO 0000305}. # SMART SM00079 PBPe # SMART SM00918 Lig_chan-Glu_bd # SUBCELLULAR LOCATION NMDE2_HUMAN Cell membrane; Multi-pass membrane protein. Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. # SUBUNIT Forms heteromeric channel of a zeta subunit (GRIN1), a epsilon subunit (GRIN2A, GRIN2B, GRIN2C or GRIN2D) and a third subunit (GRIN3A or GRIN3B). Found in a complex with GRIN1 and GRIN3B. Found in a complex with GRIN1, GRIN3A and PPP2CB. Interacts with PDZ domains of PATJ and DLG4. Interacts with HIP1 and NETO1 (By similarity). Interacts with MAGI3. Interacts with DAPK1 (By similarity). {ECO 0000250}. # SUPFAM SSF53822 SSF53822 # TISSUE SPECIFICITY Primarily found in the fronto-parieto-temporal cortex and hippocampus pyramidal cells, lower expression in the basal ganglia. {ECO:0000269|PubMed 9547169}. # UCSC uc001rbt human # eggNOG ENOG410XNUR LUCA # eggNOG KOG1053 Eukaryota BLAST swissprot:NMDE2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:NMDE2_HUMAN BioCyc ZFISH:ENSG00000150086-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000150086-MONOMER COXPRESdb 2904 http://coxpresdb.jp/data/gene/2904.shtml CleanEx HS_GRIN2B http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_GRIN2B DIP DIP-41002N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-41002N DOI 10.1002/ana.24073 http://dx.doi.org/10.1002/ana.24073 DOI 10.1006/geno.1994.1366 http://dx.doi.org/10.1006/geno.1994.1366 DOI 10.1016/0167-4781(94)00189-A http://dx.doi.org/10.1016/0167-4781(94)00189-A DOI 10.1016/S0304-3940(97)00853-7 http://dx.doi.org/10.1016/S0304-3940(97)00853-7 DOI 10.1038/ng.677 http://dx.doi.org/10.1038/ng.677 DOI 10.1056/NEJMoa1206524 http://dx.doi.org/10.1056/NEJMoa1206524 DOI 10.1074/jbc.M909741199 http://dx.doi.org/10.1074/jbc.M909741199 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1227764 http://dx.doi.org/10.1126/science.1227764 DrugBank DB00289 http://www.drugbank.ca/drugs/DB00289 DrugBank DB00312 http://www.drugbank.ca/drugs/DB00312 DrugBank DB00418 http://www.drugbank.ca/drugs/DB00418 DrugBank DB00454 http://www.drugbank.ca/drugs/DB00454 DrugBank DB00502 http://www.drugbank.ca/drugs/DB00502 DrugBank DB00659 http://www.drugbank.ca/drugs/DB00659 DrugBank DB00949 http://www.drugbank.ca/drugs/DB00949 DrugBank DB00996 http://www.drugbank.ca/drugs/DB00996 DrugBank DB01043 http://www.drugbank.ca/drugs/DB01043 DrugBank DB01174 http://www.drugbank.ca/drugs/DB01174 DrugBank DB04896 http://www.drugbank.ca/drugs/DB04896 DrugBank DB06151 http://www.drugbank.ca/drugs/DB06151 DrugBank DB06738 http://www.drugbank.ca/drugs/DB06738 DrugBank DB08954 http://www.drugbank.ca/drugs/DB08954 EMBL BC113618 http://www.ebi.ac.uk/ena/data/view/BC113618 EMBL BC113620 http://www.ebi.ac.uk/ena/data/view/BC113620 EMBL U11287 http://www.ebi.ac.uk/ena/data/view/U11287 EMBL U28758 http://www.ebi.ac.uk/ena/data/view/U28758 EMBL U28861 http://www.ebi.ac.uk/ena/data/view/U28861 EMBL U28862 http://www.ebi.ac.uk/ena/data/view/U28862 EMBL U88963 http://www.ebi.ac.uk/ena/data/view/U88963 EMBL U90278 http://www.ebi.ac.uk/ena/data/view/U90278 Ensembl ENST00000609686 http://www.ensembl.org/id/ENST00000609686 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005622 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005622 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0009986 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009986 GO_component GO:0017146 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0017146 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0043005 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043005 GO_component GO:0045211 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045211 GO_function GO:0004972 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004972 GO_function GO:0005088 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005088 GO_function GO:0005234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005234 GO_function GO:0008270 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008270 GO_function GO:0016594 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016594 GO_process GO:0000165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000165 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0007215 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007215 GO_process GO:0007268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007268 GO_process GO:0007611 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007611 GO_process GO:0045471 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045471 GO_process GO:0048013 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048013 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005622 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005622 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006464 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006464 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GeneCards GRIN2B http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=GRIN2B GeneID 2904 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=2904 GeneTree ENSGT00760000119186 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119186 H-InvDB HIX0036873 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0036873 HGNC HGNC:4586 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:4586 HOGENOM HOG000113802 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000113802&db=HOGENOM6 HOVERGEN HBG052635 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052635&db=HOVERGEN HPA HPA069762 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA069762 InParanoid Q13224 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q13224 IntAct Q13224 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q13224* InterPro IPR001320 http://www.ebi.ac.uk/interpro/entry/IPR001320 InterPro IPR001508 http://www.ebi.ac.uk/interpro/entry/IPR001508 InterPro IPR001828 http://www.ebi.ac.uk/interpro/entry/IPR001828 InterPro IPR018884 http://www.ebi.ac.uk/interpro/entry/IPR018884 InterPro IPR019594 http://www.ebi.ac.uk/interpro/entry/IPR019594 InterPro IPR028082 http://www.ebi.ac.uk/interpro/entry/IPR028082 Jabion 2904 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=2904 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00773 http://www.genome.jp/dbget-bin/www_bget?H00773 KEGG_Gene hsa:2904 http://www.genome.jp/dbget-bin/www_bget?hsa:2904 KEGG_Orthology KO:K05210 http://www.genome.jp/dbget-bin/www_bget?KO:K05210 KEGG_Pathway ko04080 http://www.genome.jp/kegg-bin/show_pathway?ko04080 KEGG_Pathway ko04713 http://www.genome.jp/kegg-bin/show_pathway?ko04713 KEGG_Pathway ko04720 http://www.genome.jp/kegg-bin/show_pathway?ko04720 KEGG_Pathway ko04724 http://www.genome.jp/kegg-bin/show_pathway?ko04724 KEGG_Pathway ko04728 http://www.genome.jp/kegg-bin/show_pathway?ko04728 KEGG_Pathway ko05010 http://www.genome.jp/kegg-bin/show_pathway?ko05010 KEGG_Pathway ko05014 http://www.genome.jp/kegg-bin/show_pathway?ko05014 KEGG_Pathway ko05016 http://www.genome.jp/kegg-bin/show_pathway?ko05016 KEGG_Pathway ko05030 http://www.genome.jp/kegg-bin/show_pathway?ko05030 KEGG_Pathway ko05031 http://www.genome.jp/kegg-bin/show_pathway?ko05031 KEGG_Pathway ko05033 http://www.genome.jp/kegg-bin/show_pathway?ko05033 KEGG_Pathway ko05034 http://www.genome.jp/kegg-bin/show_pathway?ko05034 KEGG_Pathway ko05322 http://www.genome.jp/kegg-bin/show_pathway?ko05322 MIM 138252 http://www.ncbi.nlm.nih.gov/omim/138252 MIM 613970 http://www.ncbi.nlm.nih.gov/omim/613970 MIM 616139 http://www.ncbi.nlm.nih.gov/omim/616139 MINT MINT-127466 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-127466 OMA CTNRSHL http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=CTNRSHL Orphanet 178469 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=178469 Orphanet 3451 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=3451 OrthoDB EOG091G09KH http://cegg.unige.ch/orthodb/results?searchtext=EOG091G09KH PDB 1S11 http://www.ebi.ac.uk/pdbe-srv/view/entry/1S11 PDB 1S2S http://www.ebi.ac.uk/pdbe-srv/view/entry/1S2S PDB 2IPV http://www.ebi.ac.uk/pdbe-srv/view/entry/2IPV PDB 5EWJ http://www.ebi.ac.uk/pdbe-srv/view/entry/5EWJ PDB 5EWL http://www.ebi.ac.uk/pdbe-srv/view/entry/5EWL PDB 5EWM http://www.ebi.ac.uk/pdbe-srv/view/entry/5EWM PDBsum 1S11 http://www.ebi.ac.uk/pdbsum/1S11 PDBsum 1S2S http://www.ebi.ac.uk/pdbsum/1S2S PDBsum 2IPV http://www.ebi.ac.uk/pdbsum/2IPV PDBsum 5EWJ http://www.ebi.ac.uk/pdbsum/5EWJ PDBsum 5EWL http://www.ebi.ac.uk/pdbsum/5EWL PDBsum 5EWM http://www.ebi.ac.uk/pdbsum/5EWM PRINTS PR00177 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00177 PSORT swissprot:NMDE2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:NMDE2_HUMAN PSORT-B swissprot:NMDE2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:NMDE2_HUMAN PSORT2 swissprot:NMDE2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:NMDE2_HUMAN Pfam PF00060 http://pfam.xfam.org/family/PF00060 Pfam PF01094 http://pfam.xfam.org/family/PF01094 Pfam PF10565 http://pfam.xfam.org/family/PF10565 Pfam PF10613 http://pfam.xfam.org/family/PF10613 PharmGKB PA28980 http://www.pharmgkb.org/do/serve?objId=PA28980&objCls=Gene Phobius swissprot:NMDE2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:NMDE2_HUMAN PhylomeDB Q13224 http://phylomedb.org/?seqid=Q13224 ProteinModelPortal Q13224 http://www.proteinmodelportal.org/query/uniprot/Q13224 PubMed 10748157 http://www.ncbi.nlm.nih.gov/pubmed/10748157 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 20890276 http://www.ncbi.nlm.nih.gov/pubmed/20890276 PubMed 23033978 http://www.ncbi.nlm.nih.gov/pubmed/23033978 PubMed 23160955 http://www.ncbi.nlm.nih.gov/pubmed/23160955 PubMed 24272827 http://www.ncbi.nlm.nih.gov/pubmed/24272827 PubMed 7959773 http://www.ncbi.nlm.nih.gov/pubmed/7959773 PubMed 7999784 http://www.ncbi.nlm.nih.gov/pubmed/7999784 PubMed 8768735 http://www.ncbi.nlm.nih.gov/pubmed/8768735 PubMed 9547169 http://www.ncbi.nlm.nih.gov/pubmed/9547169 Reactome R-HSA-3928662 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-3928662 Reactome R-HSA-438066 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-438066 Reactome R-HSA-442729 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-442729 Reactome R-HSA-442982 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-442982 Reactome R-HSA-5673001 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5673001 Reactome R-HSA-6794361 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6794361 Reactome R-HSA-8849932 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-8849932 RefSeq NP_000825 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000825 RefSeq XP_011518930 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011518930 RefSeq XP_011518931 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011518931 RefSeq XP_016874708 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016874708 SMART SM00079 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00079 SMART SM00918 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00918 SMR Q13224 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q13224 STRING 9606.ENSP00000279593 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000279593&targetmode=cogs SUPFAM SSF53822 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF53822 UCSC uc001rbt http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001rbt&org=rat UniGene Hs.504844 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.504844 UniGene Hs.632856 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.632856 UniGene Hs.654430 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.654430 UniProtKB NMDE2_HUMAN http://www.uniprot.org/uniprot/NMDE2_HUMAN UniProtKB-AC Q13224 http://www.uniprot.org/uniprot/Q13224 charge swissprot:NMDE2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:NMDE2_HUMAN eggNOG ENOG410XNUR http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XNUR eggNOG KOG1053 http://eggnogapi.embl.de/nog_data/html/tree/KOG1053 epestfind swissprot:NMDE2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:NMDE2_HUMAN garnier swissprot:NMDE2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:NMDE2_HUMAN helixturnhelix swissprot:NMDE2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:NMDE2_HUMAN hmoment swissprot:NMDE2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:NMDE2_HUMAN iep swissprot:NMDE2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:NMDE2_HUMAN inforesidue swissprot:NMDE2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:NMDE2_HUMAN neXtProt NX_Q13224 http://www.nextprot.org/db/entry/NX_Q13224 octanol swissprot:NMDE2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:NMDE2_HUMAN pepcoil swissprot:NMDE2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:NMDE2_HUMAN pepdigest swissprot:NMDE2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:NMDE2_HUMAN pepinfo swissprot:NMDE2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:NMDE2_HUMAN pepnet swissprot:NMDE2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:NMDE2_HUMAN pepstats swissprot:NMDE2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:NMDE2_HUMAN pepwheel swissprot:NMDE2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:NMDE2_HUMAN pepwindow swissprot:NMDE2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:NMDE2_HUMAN sigcleave swissprot:NMDE2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:NMDE2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS SERC4_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=A6NH21-1; Sequence=Displayed; Name=2; IsoId=A6NH21-2; Sequence=VSP_033584, VSP_033585; # CCDS CCDS58360 -. [A6NH21-1] # Ensembl ENST00000319327 ENSP00000319796; ENSG00000184716. [A6NH21-1] # ExpressionAtlas A6NH21 baseline and differential # FUNCTION SERC4_HUMAN Incorporates a polar amino acid serine into membranes and facilitates the synthesis of two serine-derived lipids, phosphatidylserine and sphingolipids. {ECO 0000269|PubMed 16120614}. # GO_component GO:0016021 integral component of membrane; IBA:GO_Central. # GO_function GO:0015194 L-serine transmembrane transporter activity; IBA:GO_Central. # GO_process GO:0008654 phospholipid biosynthetic process; IEA:UniProtKB-KW. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006629 lipid metabolic process # GOslim_process GO:0009058 biosynthetic process # HGNC HGNC:32237 SERINC4 # InterPro IPR005016 TDE1/TMS # InterPro IPR029563 Serinc4 # MIM 614550 gene # Organism SERC4_HUMAN Homo sapiens (Human) # PANTHER PTHR10383 PTHR10383 # PANTHER PTHR10383:SF5 PTHR10383:SF5 # Pfam PF03348 Serinc # Proteomes UP000005640 Chromosome 15 # Reactome R-HSA-977347 Serine biosynthesis # RecName SERC4_HUMAN Serine incorporator 4 # RefSeq NP_001244960 NM_001258031.1. [A6NH21-1] # RefSeq NP_001244961 NM_001258032.1. [A6NH21-2] # SIMILARITY Belongs to the TDE1 family. {ECO 0000305}. # SUBCELLULAR LOCATION SERC4_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # UCSC uc031qrp human. [A6NH21-1] # eggNOG ENOG410XP7K LUCA # eggNOG KOG2592 Eukaryota BLAST swissprot:SERC4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SERC4_HUMAN BioCyc ZFISH:G66-30839-MONOMER http://biocyc.org/getid?id=ZFISH:G66-30839-MONOMER COXPRESdb 619189 http://coxpresdb.jp/data/gene/619189.shtml CleanEx HS_SERINC4 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SERINC4 DOI 10.1038/nature04601 http://dx.doi.org/10.1038/nature04601 DOI 10.1074/jbc.M505712200 http://dx.doi.org/10.1074/jbc.M505712200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AC018512 http://www.ebi.ac.uk/ena/data/view/AC018512 EMBL BC136669 http://www.ebi.ac.uk/ena/data/view/BC136669 EMBL CH471082 http://www.ebi.ac.uk/ena/data/view/CH471082 EMBL CH471082 http://www.ebi.ac.uk/ena/data/view/CH471082 EMBL DQ103711 http://www.ebi.ac.uk/ena/data/view/DQ103711 Ensembl ENST00000319327 http://www.ensembl.org/id/ENST00000319327 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0015194 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015194 GO_process GO:0008654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008654 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006629 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006629 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GeneCards SERINC4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SERINC4 GeneID 619189 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=619189 GeneTree ENSGT00550000074522 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074522 H-InvDB HIX0012191 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0012191 H-InvDB HIX0079719 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0079719 HGNC HGNC:32237 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:32237 HOGENOM HOG000165463 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000165463&db=HOGENOM6 HOVERGEN HBG025699 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG025699&db=HOVERGEN HPA HPA018526 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA018526 InParanoid A6NH21 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=A6NH21 InterPro IPR005016 http://www.ebi.ac.uk/interpro/entry/IPR005016 InterPro IPR029563 http://www.ebi.ac.uk/interpro/entry/IPR029563 Jabion 619189 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=619189 KEGG_Gene hsa:619189 http://www.genome.jp/dbget-bin/www_bget?hsa:619189 MIM 614550 http://www.ncbi.nlm.nih.gov/omim/614550 OMA SWNKNWQ http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=SWNKNWQ OrthoDB EOG091G06BW http://cegg.unige.ch/orthodb/results?searchtext=EOG091G06BW PANTHER PTHR10383 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10383 PANTHER PTHR10383:SF5 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10383:SF5 PSORT swissprot:SERC4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SERC4_HUMAN PSORT-B swissprot:SERC4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SERC4_HUMAN PSORT2 swissprot:SERC4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SERC4_HUMAN Pfam PF03348 http://pfam.xfam.org/family/PF03348 PharmGKB PA142670936 http://www.pharmgkb.org/do/serve?objId=PA142670936&objCls=Gene Phobius swissprot:SERC4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SERC4_HUMAN PhylomeDB A6NH21 http://phylomedb.org/?seqid=A6NH21 ProteinModelPortal A6NH21 http://www.proteinmodelportal.org/query/uniprot/A6NH21 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16120614 http://www.ncbi.nlm.nih.gov/pubmed/16120614 PubMed 16572171 http://www.ncbi.nlm.nih.gov/pubmed/16572171 Reactome R-HSA-977347 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-977347 RefSeq NP_001244960 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001244960 RefSeq NP_001244961 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001244961 SMR A6NH21 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=A6NH21 STRING 9606.ENSP00000319796 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000319796&targetmode=cogs UCSC uc031qrp http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc031qrp&org=rat UniGene Hs.424126 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.424126 UniGene Hs.604985 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.604985 UniProtKB SERC4_HUMAN http://www.uniprot.org/uniprot/SERC4_HUMAN UniProtKB-AC A6NH21 http://www.uniprot.org/uniprot/A6NH21 charge swissprot:SERC4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SERC4_HUMAN eggNOG ENOG410XP7K http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XP7K eggNOG KOG2592 http://eggnogapi.embl.de/nog_data/html/tree/KOG2592 epestfind swissprot:SERC4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SERC4_HUMAN garnier swissprot:SERC4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SERC4_HUMAN helixturnhelix swissprot:SERC4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SERC4_HUMAN hmoment swissprot:SERC4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SERC4_HUMAN iep swissprot:SERC4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SERC4_HUMAN inforesidue swissprot:SERC4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SERC4_HUMAN neXtProt NX_A6NH21 http://www.nextprot.org/db/entry/NX_A6NH21 octanol swissprot:SERC4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SERC4_HUMAN pepcoil swissprot:SERC4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SERC4_HUMAN pepdigest swissprot:SERC4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SERC4_HUMAN pepinfo swissprot:SERC4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SERC4_HUMAN pepnet swissprot:SERC4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SERC4_HUMAN pepstats swissprot:SERC4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SERC4_HUMAN pepwheel swissprot:SERC4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SERC4_HUMAN pepwindow swissprot:SERC4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SERC4_HUMAN sigcleave swissprot:SERC4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SERC4_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS UT1_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q13336-1; Sequence=Displayed; Name=2; IsoId=Q13336-2; Sequence=VSP_041573; # AltName UT1_HUMAN Solute carrier family 14 member 1 # AltName UT1_HUMAN Urea transporter, erythrocyte # CCDS CCDS11925 -. [Q13336-1] # CCDS CCDS45860 -. [Q13336-2] # DrugBank DB03904 Urea # Ensembl ENST00000321925 ENSP00000318546; ENSG00000141469. [Q13336-1] # Ensembl ENST00000415427 ENSP00000412309; ENSG00000141469. [Q13336-2] # Ensembl ENST00000436407 ENSP00000390637; ENSG00000141469. [Q13336-2] # Ensembl ENST00000586142 ENSP00000470476; ENSG00000141469. [Q13336-1] # ExpressionAtlas Q13336 baseline and differential # FUNCTION UT1_HUMAN Urea channel that facilitates transmembrane urea transport down a concentration gradient. A constriction of the transmembrane channel functions as selectivity filter through which urea is expected to pass in dehydrated form. The rate of urea conduction is increased by hypotonic stress. Plays an important role in the kidney medulla collecting ducts, where it allows rapid equilibration between the lumen of the collecting ducts and the interstitium, and thereby prevents water loss driven by the high concentration of urea in the urine. Facilitates urea transport across erythrocyte membranes. May also play a role in transmembrane water transport, possibly by indirect means. # GO_component GO:0005730 nucleolus; IDA:HPA. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IDA:UniProtKB. # GO_component GO:0016323 basolateral plasma membrane; IEA:UniProtKB-SubCell. # GO_component GO:0043231 intracellular membrane-bounded organelle; IDA:HPA. # GO_function GO:0005372 water transmembrane transporter activity; IEA:Ensembl. # GO_function GO:0015204 urea transmembrane transporter activity; TAS:Reactome. # GO_function GO:0015265 urea channel activity; IDA:UniProtKB. # GO_process GO:0015840 urea transport; TAS:ProtInc. # GO_process GO:0055085 transmembrane transport; TAS:Reactome. # GO_process GO:0071918 urea transmembrane transport; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005730 nucleolus # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.10.3430.10 -; 1. # Genevisible Q13336 HS # HGNC HGNC:10918 SLC14A1 # InterPro IPR004937 Urea_transporter # InterPro IPR029020 Ammonium/urea_transptr # KEGG_Brite ko02001 Solute carrier family # MIM 111000 phenotype # MIM 613868 gene # Organism UT1_HUMAN Homo sapiens (Human) # PANTHER PTHR10464 PTHR10464 # PIR A55662 A55662 # PIRSF PIRSF016502 Urea_transporter # POLYMORPHISM SLC14A1 is responsible for the Kidd blood group system (JK) [MIM 111000]. JK is defined by 2 alleles, JK*01 and JK*02 that give rise to Jk(a) and Jk(b) antigens respectively. The molecular basis of the Jk(a)/Jk(b) antigens is a single variation in position 280; Asp-280 corresponds to Jk(a) and Asn-280 to Jk(b). Some individuals carry silenced JK*01 and JK*02 alleles, designated JK*01N or JK*02N. They results in a Jk(null) phenotype associated with reduced urea permeability of red blood cells. Jk(null) is not associated with any obvious clinical syndrome except for a urine concentration defect. # Pfam PF03253 UT # Proteomes UP000005640 Chromosome 18 # Reactome R-HSA-425366 Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds # RecName UT1_HUMAN Urea transporter 1 # RefSeq NP_001122060 NM_001128588.3. [Q13336-2] # RefSeq NP_001139508 NM_001146036.2. [Q13336-1] # RefSeq NP_001139509 NM_001146037.1. [Q13336-2] # RefSeq NP_056949 NM_015865.6. [Q13336-1] # SIMILARITY Belongs to the urea transporter family. {ECO 0000305}. # SUBCELLULAR LOCATION UT1_HUMAN Cell membrane {ECO 0000269|PubMed 23219802}; Multi-pass membrane protein {ECO 0000269|PubMed 23219802}. Basolateral cell membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. Note=Restricted to the basolateral membrane in various portions of the urothelium. {ECO 0000250}. # SUBUNIT Homotrimer; each subunit contains a pore through which urea permeates. Identified in a complex with STOM (By similarity). {ECO 0000250}. # TCDB 1.A.28.1 the urea transporter (ut) family # TISSUE SPECIFICITY Detected in erythrocytes (at protein level). Erythrocytes. {ECO:0000269|PubMed 23219802}. # UCSC uc002lbf human. [Q13336-1] # WEB RESOURCE UT1_HUMAN Name=SeattleSNPs; URL="http //pga.gs.washington.edu/data/slc14a1/"; # WEB RESOURCE UT1_HUMAN Name=dbRBC/BGMUT; Note=Blood group antigen gene mutation database; URL="https //www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/systems_info&system=kidd"; # eggNOG COG4413 LUCA # eggNOG ENOG410IEWG Eukaryota BLAST swissprot:UT1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:UT1_HUMAN BioCyc ZFISH:ENSG00000141469-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000141469-MONOMER COXPRESdb 6563 http://coxpresdb.jp/data/gene/6563.shtml CleanEx HS_SLC14A1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC14A1 DIP DIP-60049N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-60049N DOI 10.1016/j.bbamem.2012.11.030 http://dx.doi.org/10.1016/j.bbamem.2012.11.030 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1046/j.1537-2995.2000.40010069.x http://dx.doi.org/10.1046/j.1537-2995.2000.40010069.x DOI 10.1074/jbc.274.42.30228 http://dx.doi.org/10.1074/jbc.274.42.30228 DOI 10.1091/mbc.6.10.1411 http://dx.doi.org/10.1091/mbc.6.10.1411 DOI 10.1093/hmg/6.7.1017 http://dx.doi.org/10.1093/hmg/6.7.1017 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1537-2995.2007.01532.x http://dx.doi.org/10.1111/j.1537-2995.2007.01532.x DOI 10.1111/j.1537-2995.2008.01958.x http://dx.doi.org/10.1111/j.1537-2995.2008.01958.x DrugBank DB03904 http://www.drugbank.ca/drugs/DB03904 EMBL AK091064 http://www.ebi.ac.uk/ena/data/view/AK091064 EMBL AK123681 http://www.ebi.ac.uk/ena/data/view/AK123681 EMBL AK289608 http://www.ebi.ac.uk/ena/data/view/AK289608 EMBL AY942197 http://www.ebi.ac.uk/ena/data/view/AY942197 EMBL BC050539 http://www.ebi.ac.uk/ena/data/view/BC050539 EMBL EF571316 http://www.ebi.ac.uk/ena/data/view/EF571316 EMBL EF571317 http://www.ebi.ac.uk/ena/data/view/EF571317 EMBL EF571318 http://www.ebi.ac.uk/ena/data/view/EF571318 EMBL GQ502682 http://www.ebi.ac.uk/ena/data/view/GQ502682 EMBL L36121 http://www.ebi.ac.uk/ena/data/view/L36121 EMBL U35735 http://www.ebi.ac.uk/ena/data/view/U35735 EMBL Y19039 http://www.ebi.ac.uk/ena/data/view/Y19039 Ensembl ENST00000321925 http://www.ensembl.org/id/ENST00000321925 Ensembl ENST00000415427 http://www.ensembl.org/id/ENST00000415427 Ensembl ENST00000436407 http://www.ensembl.org/id/ENST00000436407 Ensembl ENST00000586142 http://www.ensembl.org/id/ENST00000586142 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005730 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005730 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016323 GO_component GO:0043231 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043231 GO_function GO:0005372 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005372 GO_function GO:0015204 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015204 GO_function GO:0015265 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015265 GO_process GO:0015840 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015840 GO_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GO_process GO:0071918 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071918 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005730 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005730 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.10.3430.10 http://www.cathdb.info/version/latest/superfamily/1.10.3430.10 GeneCards SLC14A1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC14A1 GeneID 6563 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6563 GeneTree ENSGT00390000018729 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000018729 HGNC HGNC:10918 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10918 HOGENOM HOG000065705 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000065705&db=HOGENOM6 HOVERGEN HBG000540 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG000540&db=HOVERGEN HPA HPA058353 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA058353 HPA HPA059570 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA059570 InParanoid Q13336 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q13336 InterPro IPR004937 http://www.ebi.ac.uk/interpro/entry/IPR004937 InterPro IPR029020 http://www.ebi.ac.uk/interpro/entry/IPR029020 Jabion 6563 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6563 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:6563 http://www.genome.jp/dbget-bin/www_bget?hsa:6563 KEGG_Orthology KO:K08716 http://www.genome.jp/dbget-bin/www_bget?KO:K08716 MIM 111000 http://www.ncbi.nlm.nih.gov/omim/111000 MIM 613868 http://www.ncbi.nlm.nih.gov/omim/613868 OMA MGGMFMA http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=MGGMFMA OrthoDB EOG091G095L http://cegg.unige.ch/orthodb/results?searchtext=EOG091G095L PANTHER PTHR10464 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10464 PSORT swissprot:UT1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:UT1_HUMAN PSORT-B swissprot:UT1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:UT1_HUMAN PSORT2 swissprot:UT1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:UT1_HUMAN Pfam PF03253 http://pfam.xfam.org/family/PF03253 PharmGKB PA35810 http://www.pharmgkb.org/do/serve?objId=PA35810&objCls=Gene Phobius swissprot:UT1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:UT1_HUMAN PhylomeDB Q13336 http://phylomedb.org/?seqid=Q13336 ProteinModelPortal Q13336 http://www.proteinmodelportal.org/query/uniprot/Q13336 PubMed 10514515 http://www.ncbi.nlm.nih.gov/pubmed/10514515 PubMed 10644814 http://www.ncbi.nlm.nih.gov/pubmed/10644814 PubMed 10942407 http://www.ncbi.nlm.nih.gov/pubmed/10942407 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 18028269 http://www.ncbi.nlm.nih.gov/pubmed/18028269 PubMed 18980618 http://www.ncbi.nlm.nih.gov/pubmed/18980618 PubMed 23219802 http://www.ncbi.nlm.nih.gov/pubmed/23219802 PubMed 7989337 http://www.ncbi.nlm.nih.gov/pubmed/7989337 PubMed 8573795 http://www.ncbi.nlm.nih.gov/pubmed/8573795 PubMed 9215669 http://www.ncbi.nlm.nih.gov/pubmed/9215669 Reactome R-HSA-425366 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-425366 RefSeq NP_001122060 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001122060 RefSeq NP_001139508 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001139508 RefSeq NP_001139509 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001139509 RefSeq NP_056949 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_056949 SMR Q13336 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q13336 STRING 9606.ENSP00000390637 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000390637&targetmode=cogs TCDB 1.A.28.1 http://www.tcdb.org/search/result.php?tc=1.A.28.1 UCSC uc002lbf http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002lbf&org=rat UniGene Hs.101307 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.101307 UniProtKB UT1_HUMAN http://www.uniprot.org/uniprot/UT1_HUMAN UniProtKB-AC Q13336 http://www.uniprot.org/uniprot/Q13336 charge swissprot:UT1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:UT1_HUMAN eggNOG COG4413 http://eggnogapi.embl.de/nog_data/html/tree/COG4413 eggNOG ENOG410IEWG http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IEWG epestfind swissprot:UT1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:UT1_HUMAN garnier swissprot:UT1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:UT1_HUMAN helixturnhelix swissprot:UT1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:UT1_HUMAN hmoment swissprot:UT1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:UT1_HUMAN iep swissprot:UT1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:UT1_HUMAN inforesidue swissprot:UT1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:UT1_HUMAN neXtProt NX_Q13336 http://www.nextprot.org/db/entry/NX_Q13336 octanol swissprot:UT1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:UT1_HUMAN pepcoil swissprot:UT1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:UT1_HUMAN pepdigest swissprot:UT1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:UT1_HUMAN pepinfo swissprot:UT1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:UT1_HUMAN pepnet swissprot:UT1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:UT1_HUMAN pepstats swissprot:UT1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:UT1_HUMAN pepwheel swissprot:UT1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:UT1_HUMAN pepwindow swissprot:UT1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:UT1_HUMAN sigcleave swissprot:UT1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:UT1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS TTYH3_HUMAN Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q9C0H2-1; Sequence=Displayed; Name=2; IsoId=Q9C0H2-2; Sequence=VSP_029770; Note=No experimental confirmation available.; Name=3; IsoId=Q9C0H2-3; Sequence=VSP_029769; Note=No experimental confirmation available.; Name=4; IsoId=Q9C0H2-4; Sequence=VSP_042220; Note=No experimental confirmation available.; # BioGrid 123277 25 # CCDS CCDS34588 -. [Q9C0H2-1] # CDD cd07912 Tweety_N # ChiTaRS TTYH3 human # Ensembl ENST00000258796 ENSP00000258796; ENSG00000136295. [Q9C0H2-1] # Ensembl ENST00000403167 ENSP00000385015; ENSG00000136295. [Q9C0H2-3] # Ensembl ENST00000407643 ENSP00000385316; ENSG00000136295. [Q9C0H2-2] # ExpressionAtlas Q9C0H2 baseline and differential # FUNCTION TTYH3_HUMAN Probable large-conductance Ca(2+)-activated chloride channel. May play a role in Ca(2+) signal transduction. {ECO 0000269|PubMed 15010458}. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0034707 chloride channel complex; IEA:UniProtKB-KW. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0005229 intracellular calcium activated chloride channel activity; IDA:FlyBase. # GO_function GO:0005254 chloride channel activity; IMP:UniProtKB. # GO_process GO:0006821 chloride transport; IDA:FlyBase. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0055085 transmembrane transport # Genevisible Q9C0H2 HS # HGNC HGNC:22222 TTYH3 # IntAct Q9C0H2 3 # InterPro IPR006990 Tweety # MIM 608919 gene # MISCELLANEOUS TTYH3_HUMAN The current is completely inhibited by the addition of an anion permeability inhibitor. Addition of a Ca(2+) ionophore induces an outward-rectified current in mock-transfected cells, but it introduced an overt linear current in TTYH3-transfected cells. # Organism TTYH3_HUMAN Homo sapiens (Human) # PANTHER PTHR12424 PTHR12424 # PTM TTYH3_HUMAN N-glycosylated. {ECO 0000269|PubMed 15010458, ECO 0000269|PubMed 19159218}. # Pfam PF04906 Tweety # Proteomes UP000005640 Chromosome 7 # Reactome R-HSA-2672351 Stimuli-sensing channels # RecName TTYH3_HUMAN Protein tweety homolog 3 # RefSeq NP_079526 NM_025250.2. [Q9C0H2-1] # RefSeq XP_011513837 XM_011515535.2. [Q9C0H2-4] # RefSeq XP_016868145 XM_017012656.1. [Q9C0H2-2] # SEQUENCE CAUTION Sequence=BAB21782.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=EAL23958.1; Type=Erroneous gene model prediction; Evidence={ECO 0000305}; # SIMILARITY Belongs to the tweety family. {ECO 0000305}. # SUBCELLULAR LOCATION TTYH3_HUMAN Cell membrane {ECO 0000269|PubMed 15010458}; Multi-pass membrane protein {ECO 0000269|PubMed 15010458}. # TCDB 1.A.48.1 the anion channel tweety (tweety) family # TISSUE SPECIFICITY Expressed in excitable tissues. Expressed in the brain, heart, skeletal muscle, colon, spleen, kidney and peripheral blood leukocytes. {ECO:0000269|PubMed 15010458}. # UCSC uc003smp human. [Q9C0H2-1] # eggNOG ENOG410ZNTN LUCA # eggNOG KOG4433 Eukaryota BLAST swissprot:TTYH3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:TTYH3_HUMAN COXPRESdb 80727 http://coxpresdb.jp/data/gene/80727.shtml CleanEx HS_TTYH3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_TTYH3 DOI 10.1016/j.cell.2006.09.026 http://dx.doi.org/10.1016/j.cell.2006.09.026 DOI 10.1021/pr0705441 http://dx.doi.org/10.1021/pr0705441 DOI 10.1021/pr8008012 http://dx.doi.org/10.1021/pr8008012 DOI 10.1038/nature01782 http://dx.doi.org/10.1038/nature01782 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.M313813200 http://dx.doi.org/10.1074/jbc.M313813200 DOI 10.1093/dnares/10.1.49 http://dx.doi.org/10.1093/dnares/10.1.49 DOI 10.1093/dnares/7.6.347 http://dx.doi.org/10.1093/dnares/7.6.347 DOI 10.1093/dnares/9.3.99 http://dx.doi.org/10.1093/dnares/9.3.99 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1083423 http://dx.doi.org/10.1126/science.1083423 DOI 10.1126/scisignal.2001570 http://dx.doi.org/10.1126/scisignal.2001570 EMBL AB051478 http://www.ebi.ac.uk/ena/data/view/AB051478 EMBL AB162931 http://www.ebi.ac.uk/ena/data/view/AB162931 EMBL AC006028 http://www.ebi.ac.uk/ena/data/view/AC006028 EMBL AC073462 http://www.ebi.ac.uk/ena/data/view/AC073462 EMBL AK074158 http://www.ebi.ac.uk/ena/data/view/AK074158 EMBL AK124608 http://www.ebi.ac.uk/ena/data/view/AK124608 EMBL BC131824 http://www.ebi.ac.uk/ena/data/view/BC131824 EMBL BC152447 http://www.ebi.ac.uk/ena/data/view/BC152447 EMBL BE263005 http://www.ebi.ac.uk/ena/data/view/BE263005 EMBL CH236953 http://www.ebi.ac.uk/ena/data/view/CH236953 EMBL CH471144 http://www.ebi.ac.uk/ena/data/view/CH471144 Ensembl ENST00000258796 http://www.ensembl.org/id/ENST00000258796 Ensembl ENST00000403167 http://www.ensembl.org/id/ENST00000403167 Ensembl ENST00000407643 http://www.ensembl.org/id/ENST00000407643 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0034707 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034707 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0005229 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005229 GO_function GO:0005254 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005254 GO_process GO:0006821 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006821 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards TTYH3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=TTYH3 GeneID 80727 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=80727 GeneTree ENSGT00390000010182 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000010182 HGNC HGNC:22222 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:22222 HOGENOM HOG000070449 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000070449&db=HOGENOM6 HOVERGEN HBG108621 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG108621&db=HOVERGEN HPA HPA053520 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA053520 InParanoid Q9C0H2 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9C0H2 IntAct Q9C0H2 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9C0H2* InterPro IPR006990 http://www.ebi.ac.uk/interpro/entry/IPR006990 Jabion 80727 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=80727 KEGG_Gene hsa:80727 http://www.genome.jp/dbget-bin/www_bget?hsa:80727 MIM 608919 http://www.ncbi.nlm.nih.gov/omim/608919 OMA LIRNSKA http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=LIRNSKA OrthoDB EOG091G05MR http://cegg.unige.ch/orthodb/results?searchtext=EOG091G05MR PANTHER PTHR12424 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12424 PSORT swissprot:TTYH3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:TTYH3_HUMAN PSORT-B swissprot:TTYH3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:TTYH3_HUMAN PSORT2 swissprot:TTYH3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:TTYH3_HUMAN Pfam PF04906 http://pfam.xfam.org/family/PF04906 PharmGKB PA134908427 http://www.pharmgkb.org/do/serve?objId=PA134908427&objCls=Gene Phobius swissprot:TTYH3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:TTYH3_HUMAN PhylomeDB Q9C0H2 http://phylomedb.org/?seqid=Q9C0H2 ProteinModelPortal Q9C0H2 http://www.proteinmodelportal.org/query/uniprot/Q9C0H2 PubMed 11214970 http://www.ncbi.nlm.nih.gov/pubmed/11214970 PubMed 12168954 http://www.ncbi.nlm.nih.gov/pubmed/12168954 PubMed 12690205 http://www.ncbi.nlm.nih.gov/pubmed/12690205 PubMed 12693554 http://www.ncbi.nlm.nih.gov/pubmed/12693554 PubMed 12853948 http://www.ncbi.nlm.nih.gov/pubmed/12853948 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15010458 http://www.ncbi.nlm.nih.gov/pubmed/15010458 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 17081983 http://www.ncbi.nlm.nih.gov/pubmed/17081983 PubMed 18220336 http://www.ncbi.nlm.nih.gov/pubmed/18220336 PubMed 19159218 http://www.ncbi.nlm.nih.gov/pubmed/19159218 PubMed 21406692 http://www.ncbi.nlm.nih.gov/pubmed/21406692 Reactome R-HSA-2672351 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2672351 RefSeq NP_079526 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_079526 RefSeq XP_011513837 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011513837 RefSeq XP_016868145 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016868145 STRING 9606.ENSP00000258796 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000258796&targetmode=cogs TCDB 1.A.48.1 http://www.tcdb.org/search/result.php?tc=1.A.48.1 UCSC uc003smp http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003smp&org=rat UniGene Hs.440899 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.440899 UniProtKB TTYH3_HUMAN http://www.uniprot.org/uniprot/TTYH3_HUMAN UniProtKB-AC Q9C0H2 http://www.uniprot.org/uniprot/Q9C0H2 charge swissprot:TTYH3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:TTYH3_HUMAN eggNOG ENOG410ZNTN http://eggnogapi.embl.de/nog_data/html/tree/ENOG410ZNTN eggNOG KOG4433 http://eggnogapi.embl.de/nog_data/html/tree/KOG4433 epestfind swissprot:TTYH3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:TTYH3_HUMAN garnier swissprot:TTYH3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:TTYH3_HUMAN helixturnhelix swissprot:TTYH3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:TTYH3_HUMAN hmoment swissprot:TTYH3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:TTYH3_HUMAN iep swissprot:TTYH3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:TTYH3_HUMAN inforesidue swissprot:TTYH3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:TTYH3_HUMAN neXtProt NX_Q9C0H2 http://www.nextprot.org/db/entry/NX_Q9C0H2 octanol swissprot:TTYH3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:TTYH3_HUMAN pepcoil swissprot:TTYH3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:TTYH3_HUMAN pepdigest swissprot:TTYH3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:TTYH3_HUMAN pepinfo swissprot:TTYH3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:TTYH3_HUMAN pepnet swissprot:TTYH3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:TTYH3_HUMAN pepstats swissprot:TTYH3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:TTYH3_HUMAN pepwheel swissprot:TTYH3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:TTYH3_HUMAN pepwindow swissprot:TTYH3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:TTYH3_HUMAN sigcleave swissprot:TTYH3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:TTYH3_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS 5HT3E_HUMAN Event=Alternative splicing; Named isoforms=5; Name=1; IsoId=A5X5Y0-1; Sequence=Displayed; Name=2; Synonyms=5-HT3c1; IsoId=A5X5Y0-2; Sequence=VSP_029804; Name=3; IsoId=A5X5Y0-3; Sequence=VSP_029803; Name=4; Synonyms=5-HT3c1 long; IsoId=A5X5Y0-4; Sequence=VSP_029803, VSP_029804; Name=5; Synonyms=HTR3E_V3; IsoId=A5X5Y0-6; Sequence=VSP_029803, VSP_029804, VSP_045573; # AltName 5HT3E_HUMAN Serotonin receptor 3E # BioGrid 130056 6 # CCDS CCDS3251 -. [A5X5Y0-3] # CCDS CCDS58868 -. [A5X5Y0-1] # CCDS CCDS58869 -. [A5X5Y0-2] # CCDS CCDS58870 -. [A5X5Y0-4] # CCDS CCDS58871 -. [A5X5Y0-6] # DrugBank DB00898 Ethanol # DrugBank DB01049 Ergoloid mesylate # Ensembl ENST00000335304 ENSP00000335511; ENSG00000186038. [A5X5Y0-3] # Ensembl ENST00000415389 ENSP00000401444; ENSG00000186038. [A5X5Y0-1] # Ensembl ENST00000425359 ENSP00000401900; ENSG00000186038. [A5X5Y0-2] # Ensembl ENST00000436361 ENSP00000395833; ENSG00000186038. [A5X5Y0-4] # Ensembl ENST00000440596 ENSP00000406050; ENSG00000186038. [A5X5Y0-6] # ExpressionAtlas A5X5Y0 baseline and differential # FUNCTION 5HT3E_HUMAN This is one of the several different receptors for 5- hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor is a ligand-gated ion channel, which when activated causes fast, depolarizing responses. It is a cation-specific, but otherwise relatively nonselective, ion channel. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0004993 G-protein coupled serotonin receptor activity; IDA:CACAO. # GO_function GO:0005232 serotonin-activated cation-selective channel activity; IBA:GO_Central. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.20.120.370 -; 2. # Gene3D 2.70.170.10 -; 1. # HGNC HGNC:24005 HTR3E # INTERACTION 5HT3E_HUMAN P46098 HTR3A; NbExp=5; IntAct=EBI-11174612, EBI-9008743; # InterPro IPR006029 Neurotrans-gated_channel_TM # InterPro IPR006201 Neur_channel # InterPro IPR006202 Neur_chan_lig-bd # InterPro IPR018000 Neurotransmitter_ion_chnl_CS # InterPro IPR027361 Acetylcholine_rcpt_TM # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04726 Serotonergic synapse # MIM 610123 gene # Organism 5HT3E_HUMAN Homo sapiens (Human) # PANTHER PTHR18945 PTHR18945 # PRINTS PR00252 NRIONCHANNEL # PROSITE PS00236 NEUROTR_ION_CHANNEL # Pfam PF02931 Neur_chan_LBD # Pfam PF02932 Neur_chan_memb # Proteomes UP000005640 Chromosome 3 # Reactome R-HSA-975298 Ligand-gated ion channel transport # RecName 5HT3E_HUMAN 5-hydroxytryptamine receptor 3E # RefSeq NP_001243542 NM_001256613.1. [A5X5Y0-1] # RefSeq NP_001243543 NM_001256614.1. [A5X5Y0-6] # RefSeq NP_872395 NM_182589.2. [A5X5Y0-3] # RefSeq NP_938055 NM_198313.2. [A5X5Y0-2] # RefSeq NP_938056 NM_198314.2. [A5X5Y0-4] # SIMILARITY Belongs to the ligand-gated ion channel (TC 1.A.9) family. 5-hydroxytryptamine receptor (TC 1.A.9.2) subfamily. HTR3E sub-subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION 5HT3E_HUMAN Cell membrane {ECO 0000269|PubMed 17392525, ECO 0000269|PubMed 19012743}; Multi-pass membrane protein {ECO 0000269|PubMed 17392525, ECO 0000269|PubMed 19012743}. Note=Presumably retained within the endoplasmic reticulum unless complexed with HTR3A. # SUBUNIT Forms a pentaheteromeric complex with HTR3A. Not functional as a homomeric complex. {ECO:0000269|PubMed 17392525}. # SUPFAM SSF63712 SSF63712 # SUPFAM SSF90112 SSF90112 # TISSUE SPECIFICITY 5HT3E_HUMAN Expressed in adult colon and intestine. {ECO 0000269|PubMed 12801637, ECO 0000269|PubMed 14597179}. # UCSC uc003fml human. [A5X5Y0-1] # eggNOG ENOG410XQGR LUCA # eggNOG KOG3645 Eukaryota BLAST swissprot:5HT3E_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:5HT3E_HUMAN BioCyc ZFISH:G66-33727-MONOMER http://biocyc.org/getid?id=ZFISH:G66-33727-MONOMER COXPRESdb 285242 http://coxpresdb.jp/data/gene/285242.shtml CleanEx HS_HTR3E http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_HTR3E DOI 10.1016/S0378-1119(03)00503-1 http://dx.doi.org/10.1016/S0378-1119(03)00503-1 DOI 10.1016/S0378-1119(03)00803-5 http://dx.doi.org/10.1016/S0378-1119(03)00803-5 DOI 10.1038/nature04728 http://dx.doi.org/10.1038/nature04728 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1471-4159.2008.05775.x http://dx.doi.org/10.1111/j.1471-4159.2008.05775.x DOI 10.1124/mol.106.032144 http://dx.doi.org/10.1124/mol.106.032144 DrugBank DB00898 http://www.drugbank.ca/drugs/DB00898 DrugBank DB01049 http://www.drugbank.ca/drugs/DB01049 EMBL AC131235 http://www.ebi.ac.uk/ena/data/view/AC131235 EMBL AY159813 http://www.ebi.ac.uk/ena/data/view/AY159813 EMBL AY349352 http://www.ebi.ac.uk/ena/data/view/AY349352 EMBL AY349353 http://www.ebi.ac.uk/ena/data/view/AY349353 EMBL BC101182 http://www.ebi.ac.uk/ena/data/view/BC101182 EMBL BC101183 http://www.ebi.ac.uk/ena/data/view/BC101183 EMBL BC101185 http://www.ebi.ac.uk/ena/data/view/BC101185 EMBL DQ644022 http://www.ebi.ac.uk/ena/data/view/DQ644022 EMBL EU165354 http://www.ebi.ac.uk/ena/data/view/EU165354 Ensembl ENST00000335304 http://www.ensembl.org/id/ENST00000335304 Ensembl ENST00000415389 http://www.ensembl.org/id/ENST00000415389 Ensembl ENST00000425359 http://www.ensembl.org/id/ENST00000425359 Ensembl ENST00000436361 http://www.ensembl.org/id/ENST00000436361 Ensembl ENST00000440596 http://www.ensembl.org/id/ENST00000440596 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0004993 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004993 GO_function GO:0005232 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005232 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.20.120.370 http://www.cathdb.info/version/latest/superfamily/1.20.120.370 Gene3D 2.70.170.10 http://www.cathdb.info/version/latest/superfamily/2.70.170.10 GeneCards HTR3E http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=HTR3E GeneID 285242 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=285242 GeneTree ENSGT00790000122957 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00790000122957 HGNC HGNC:24005 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:24005 HOGENOM HOG000241519 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000241519&db=HOGENOM6 HOVERGEN HBG106638 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG106638&db=HOVERGEN HPA HPA049764 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA049764 InParanoid A5X5Y0 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=A5X5Y0 IntAct A5X5Y0 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=A5X5Y0* InterPro IPR006029 http://www.ebi.ac.uk/interpro/entry/IPR006029 InterPro IPR006201 http://www.ebi.ac.uk/interpro/entry/IPR006201 InterPro IPR006202 http://www.ebi.ac.uk/interpro/entry/IPR006202 InterPro IPR018000 http://www.ebi.ac.uk/interpro/entry/IPR018000 InterPro IPR027361 http://www.ebi.ac.uk/interpro/entry/IPR027361 Jabion 285242 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=285242 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:285242 http://www.genome.jp/dbget-bin/www_bget?hsa:285242 KEGG_Orthology KO:K04819 http://www.genome.jp/dbget-bin/www_bget?KO:K04819 KEGG_Pathway ko04726 http://www.genome.jp/kegg-bin/show_pathway?ko04726 MIM 610123 http://www.ncbi.nlm.nih.gov/omim/610123 OMA SYREHRV http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=SYREHRV OrthoDB EOG091G042C http://cegg.unige.ch/orthodb/results?searchtext=EOG091G042C PANTHER PTHR18945 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR18945 PRINTS PR00252 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00252 PROSITE PS00236 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00236 PSORT swissprot:5HT3E_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:5HT3E_HUMAN PSORT-B swissprot:5HT3E_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:5HT3E_HUMAN PSORT2 swissprot:5HT3E_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:5HT3E_HUMAN Pfam PF02931 http://pfam.xfam.org/family/PF02931 Pfam PF02932 http://pfam.xfam.org/family/PF02932 PharmGKB PA134900226 http://www.pharmgkb.org/do/serve?objId=PA134900226&objCls=Gene Phobius swissprot:5HT3E_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:5HT3E_HUMAN PhylomeDB A5X5Y0 http://phylomedb.org/?seqid=A5X5Y0 ProteinModelPortal A5X5Y0 http://www.proteinmodelportal.org/query/uniprot/A5X5Y0 PubMed 12801637 http://www.ncbi.nlm.nih.gov/pubmed/12801637 PubMed 14597179 http://www.ncbi.nlm.nih.gov/pubmed/14597179 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16641997 http://www.ncbi.nlm.nih.gov/pubmed/16641997 PubMed 17392525 http://www.ncbi.nlm.nih.gov/pubmed/17392525 PubMed 19012743 http://www.ncbi.nlm.nih.gov/pubmed/19012743 Reactome R-HSA-975298 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-975298 RefSeq NP_001243542 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001243542 RefSeq NP_001243543 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001243543 RefSeq NP_872395 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_872395 RefSeq NP_938055 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_938055 RefSeq NP_938056 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_938056 STRING 9606.ENSP00000335511 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000335511&targetmode=cogs SUPFAM SSF63712 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF63712 SUPFAM SSF90112 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF90112 UCSC uc003fml http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003fml&org=rat UniGene Hs.449179 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.449179 UniProtKB 5HT3E_HUMAN http://www.uniprot.org/uniprot/5HT3E_HUMAN UniProtKB-AC A5X5Y0 http://www.uniprot.org/uniprot/A5X5Y0 charge swissprot:5HT3E_HUMAN http://rest.g-language.org/emboss/charge/swissprot:5HT3E_HUMAN eggNOG ENOG410XQGR http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XQGR eggNOG KOG3645 http://eggnogapi.embl.de/nog_data/html/tree/KOG3645 epestfind swissprot:5HT3E_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:5HT3E_HUMAN garnier swissprot:5HT3E_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:5HT3E_HUMAN helixturnhelix swissprot:5HT3E_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:5HT3E_HUMAN hmoment swissprot:5HT3E_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:5HT3E_HUMAN iep swissprot:5HT3E_HUMAN http://rest.g-language.org/emboss/iep/swissprot:5HT3E_HUMAN inforesidue swissprot:5HT3E_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:5HT3E_HUMAN neXtProt NX_A5X5Y0 http://www.nextprot.org/db/entry/NX_A5X5Y0 octanol swissprot:5HT3E_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:5HT3E_HUMAN pepcoil swissprot:5HT3E_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:5HT3E_HUMAN pepdigest swissprot:5HT3E_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:5HT3E_HUMAN pepinfo swissprot:5HT3E_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:5HT3E_HUMAN pepnet swissprot:5HT3E_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:5HT3E_HUMAN pepstats swissprot:5HT3E_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:5HT3E_HUMAN pepwheel swissprot:5HT3E_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:5HT3E_HUMAN pepwindow swissprot:5HT3E_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:5HT3E_HUMAN sigcleave swissprot:5HT3E_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:5HT3E_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS ABCAD_HUMAN Event=Alternative splicing; Named isoforms=7; Name=1; IsoId=Q86UQ4-1; Sequence=Displayed; Name=2; IsoId=Q86UQ4-2; Sequence=VSP_021069, VSP_021070; Note=No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=3; IsoId=Q86UQ4-3; Sequence=VSP_021068; Name=4; IsoId=Q86UQ4-4; Sequence=VSP_054634; Name=5; IsoId=Q86UQ4-5; Sequence=VSP_054633, VSP_054634; Name=6; IsoId=Q86UQ4-6; Sequence=VSP_054633, VSP_054634, VSP_054636; Name=7; IsoId=Q86UQ4-7; Sequence=VSP_054633, VSP_054634, VSP_054635; # BioGrid 127551 5 # CCDS CCDS47584 -. [Q86UQ4-1] # ChiTaRS ABCA13 human # Ensembl ENST00000417403 ENSP00000409268; ENSG00000179869. [Q86UQ4-2] # ExpressionAtlas Q86UQ4 baseline and differential # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0043231 intracellular membrane-bounded organelle; IBA:GO_Central. # GO_function GO:0005524 ATP binding; IEA:UniProtKB-KW. # GO_function GO:0042626 ATPase activity, coupled to transmembrane movement of substances; IBA:GO_Central. # GO_process GO:0033344 cholesterol efflux; IBA:GO_Central. # GO_process GO:0033700 phospholipid efflux; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0043226 organelle # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # Gene3D 3.40.50.300 -; 2. # HGNC HGNC:14638 ABCA13 # IntAct Q86UQ4 2 # InterPro IPR003439 ABC_transporter-like # InterPro IPR003593 AAA+_ATPase # InterPro IPR026082 ABC_A # InterPro IPR027417 P-loop_NTPase # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02000 Transporters # KEGG_Pathway ko02010 ABC transporters # MIM 607807 gene # Organism ABCAD_HUMAN Homo sapiens (Human) # PANTHER PTHR19229 PTHR19229; 3 # PROSITE PS50893 ABC_TRANSPORTER_2; 2 # Pfam PF00005 ABC_tran; 2 # Proteomes UP000005640 Chromosome 7 # Reactome R-HSA-6798695 Neutrophil degranulation # RecName ABCAD_HUMAN ATP-binding cassette sub-family A member 13 # RefSeq NP_689914 NM_152701.4 # SEQUENCE CAUTION Sequence=BAC03623.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAC86492.1; Type=Erroneous termination; Positions=123; Note=Translated as Glu.; Evidence={ECO 0000305}; Sequence=BAC86492.1; Type=Frameshift; Positions=156; Evidence={ECO:0000305}; # SIMILARITY Belongs to the ABC transporter superfamily. {ECO 0000305}. # SIMILARITY Contains 2 ABC transporter domains. {ECO:0000255|PROSITE-ProRule PRU00434}. # SMART SM00382 AAA; 2 # SUBCELLULAR LOCATION ABCAD_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # SUPFAM SSF52540 SSF52540; 2 # TCDB 3.A.1.211.18 the atp-binding cassette (abc) superfamily # TISSUE SPECIFICITY ABCAD_HUMAN Significantly expressed in the bone marrow, trachea, testis, thyroid and lung as well as in skin fibroblasts. {ECO 0000269|PubMed 12697998, ECO 0000269|PubMed 23266639}. # UCSC uc064dot human. [Q86UQ4-1] # WEB RESOURCE ABCAD_HUMAN Name=ABCMdb; Note=Database for mutations in ABC proteins; URL="http //abcmutations.hegelab.org/proteinDetails?uniprot_id=Q86UQ4"; # eggNOG COG1131 LUCA # eggNOG KOG0059 Eukaryota BLAST swissprot:ABCAD_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ABCAD_HUMAN COXPRESdb 154664 http://coxpresdb.jp/data/gene/154664.shtml CleanEx HS_ABCA13 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ABCA13 DOI 10.1016/j.gene.2012.11.072 http://dx.doi.org/10.1016/j.gene.2012.11.072 DOI 10.1038/nature01782 http://dx.doi.org/10.1038/nature01782 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1159/000069852 http://dx.doi.org/10.1159/000069852 EMBL AC073424 http://www.ebi.ac.uk/ena/data/view/AC073424 EMBL AC073927 http://www.ebi.ac.uk/ena/data/view/AC073927 EMBL AC091770 http://www.ebi.ac.uk/ena/data/view/AC091770 EMBL AC095039 http://www.ebi.ac.uk/ena/data/view/AC095039 EMBL AC232300 http://www.ebi.ac.uk/ena/data/view/AC232300 EMBL AC232312 http://www.ebi.ac.uk/ena/data/view/AC232312 EMBL AF501281 http://www.ebi.ac.uk/ena/data/view/AF501281 EMBL AK091270 http://www.ebi.ac.uk/ena/data/view/AK091270 EMBL AK126220 http://www.ebi.ac.uk/ena/data/view/AK126220 EMBL AY204751 http://www.ebi.ac.uk/ena/data/view/AY204751 EMBL JF913488 http://www.ebi.ac.uk/ena/data/view/JF913488 EMBL JF913489 http://www.ebi.ac.uk/ena/data/view/JF913489 EMBL JF913490 http://www.ebi.ac.uk/ena/data/view/JF913490 EMBL JF913491 http://www.ebi.ac.uk/ena/data/view/JF913491 EMBL JF913492 http://www.ebi.ac.uk/ena/data/view/JF913492 Ensembl ENST00000417403 http://www.ensembl.org/id/ENST00000417403 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0043231 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043231 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0042626 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042626 GO_process GO:0033344 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033344 GO_process GO:0033700 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033700 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 Gene3D 3.40.50.300 http://www.cathdb.info/version/latest/superfamily/3.40.50.300 GeneCards ABCA13 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ABCA13 GeneID 154664 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=154664 GeneTree ENSGT00760000118965 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118965 H-InvDB HIX0006678 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0006678 H-InvDB HIX0033928 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0033928 HGNC HGNC:14638 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:14638 HOGENOM HOG000033760 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000033760&db=HOGENOM6 HOVERGEN HBG080808 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG080808&db=HOVERGEN InParanoid Q86UQ4 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q86UQ4 IntAct Q86UQ4 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q86UQ4* InterPro IPR003439 http://www.ebi.ac.uk/interpro/entry/IPR003439 InterPro IPR003593 http://www.ebi.ac.uk/interpro/entry/IPR003593 InterPro IPR026082 http://www.ebi.ac.uk/interpro/entry/IPR026082 InterPro IPR027417 http://www.ebi.ac.uk/interpro/entry/IPR027417 Jabion 154664 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=154664 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Gene hsa:154664 http://www.genome.jp/dbget-bin/www_bget?hsa:154664 KEGG_Orthology KO:K05647 http://www.genome.jp/dbget-bin/www_bget?KO:K05647 KEGG_Pathway ko02010 http://www.genome.jp/kegg-bin/show_pathway?ko02010 MIM 607807 http://www.ncbi.nlm.nih.gov/omim/607807 PANTHER PTHR19229 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR19229 PROSITE PS50893 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50893 PSORT swissprot:ABCAD_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ABCAD_HUMAN PSORT-B swissprot:ABCAD_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ABCAD_HUMAN PSORT2 swissprot:ABCAD_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ABCAD_HUMAN Pfam PF00005 http://pfam.xfam.org/family/PF00005 PharmGKB PA134925234 http://www.pharmgkb.org/do/serve?objId=PA134925234&objCls=Gene Phobius swissprot:ABCAD_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ABCAD_HUMAN PhylomeDB Q86UQ4 http://phylomedb.org/?seqid=Q86UQ4 ProteinModelPortal Q86UQ4 http://www.proteinmodelportal.org/query/uniprot/Q86UQ4 PubMed 12697998 http://www.ncbi.nlm.nih.gov/pubmed/12697998 PubMed 12853948 http://www.ncbi.nlm.nih.gov/pubmed/12853948 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 23266639 http://www.ncbi.nlm.nih.gov/pubmed/23266639 Reactome R-HSA-6798695 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6798695 RefSeq NP_689914 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_689914 SMART SM00382 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00382 SMR Q86UQ4 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q86UQ4 STRING 9606.ENSP00000411096 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000411096&targetmode=cogs SUPFAM SSF52540 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52540 TCDB 3.A.1.211.18 http://www.tcdb.org/search/result.php?tc=3.A.1.211.18 UCSC uc064dot http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc064dot&org=rat UniGene Hs.226568 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.226568 UniGene Hs.745575 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.745575 UniProtKB ABCAD_HUMAN http://www.uniprot.org/uniprot/ABCAD_HUMAN UniProtKB-AC Q86UQ4 http://www.uniprot.org/uniprot/Q86UQ4 charge swissprot:ABCAD_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ABCAD_HUMAN eggNOG COG1131 http://eggnogapi.embl.de/nog_data/html/tree/COG1131 eggNOG KOG0059 http://eggnogapi.embl.de/nog_data/html/tree/KOG0059 epestfind swissprot:ABCAD_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ABCAD_HUMAN garnier swissprot:ABCAD_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ABCAD_HUMAN helixturnhelix swissprot:ABCAD_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ABCAD_HUMAN hmoment swissprot:ABCAD_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ABCAD_HUMAN iep swissprot:ABCAD_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ABCAD_HUMAN inforesidue swissprot:ABCAD_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ABCAD_HUMAN neXtProt NX_Q86UQ4 http://www.nextprot.org/db/entry/NX_Q86UQ4 octanol swissprot:ABCAD_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ABCAD_HUMAN pepcoil swissprot:ABCAD_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ABCAD_HUMAN pepdigest swissprot:ABCAD_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ABCAD_HUMAN pepinfo swissprot:ABCAD_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ABCAD_HUMAN pepnet swissprot:ABCAD_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ABCAD_HUMAN pepstats swissprot:ABCAD_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ABCAD_HUMAN pepwheel swissprot:ABCAD_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ABCAD_HUMAN pepwindow swissprot:ABCAD_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ABCAD_HUMAN sigcleave swissprot:ABCAD_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ABCAD_HUMAN ## Database ID URL or Descriptions # AltName MFS10_HUMAN Tetracycline transporter-like protein # BioGrid 115521 5 # CDD cd06174 MFS # ChiTaRS MFSD10 human # Ensembl ENST00000329687 ENSP00000332646; ENSG00000109736 # Ensembl ENST00000355443 ENSP00000347619; ENSG00000109736 # ExpressionAtlas Q14728 baseline and differential # FUNCTION MFS10_HUMAN Confers cellular resistance to apoptosis induced by the non-steroidal anti-inflammatory drugs indomethacin and diclofenac. May act as an efflux pump. {ECO 0000269|PubMed 17362938}. # GO_component GO:0016021 integral component of membrane; TAS:ProtInc. # GO_component GO:0030659 cytoplasmic vesicle membrane; IDA:MGI. # GO_component GO:0031526 brush border membrane; IBA:GO_Central. # GO_function GO:0008493 tetracycline transporter activity; TAS:ProtInc. # GO_function GO:0008514 organic anion transmembrane transporter activity; IDA:MGI. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0006915 apoptotic process; IEA:UniProtKB-KW. # GO_process GO:0043252 sodium-independent organic anion transport; IDA:MGI. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008219 cell death # Genevisible Q14728 HS # HGNC HGNC:16894 MFSD10 # IntAct Q14728 4 # InterPro IPR011701 MFS # InterPro IPR020846 MFS_dom # MIM 610977 gene # Organism MFS10_HUMAN Homo sapiens (Human) # PIR I54353 I54353 # PROSITE PS50850 MFS # Pfam PF07690 MFS_1 # Proteomes UP000005640 Chromosome 4 # RecName MFS10_HUMAN Major facilitator superfamily domain-containing protein 10 # RefSeq NP_001111 NM_001120.4 # RefSeq NP_001139541 NM_001146069.1 # SIMILARITY Belongs to the major facilitator superfamily. {ECO 0000255}. # SUBCELLULAR LOCATION MFS10_HUMAN Membrane {ECO 0000255}; Multi-pass membrane protein {ECO 0000255}. # SUPFAM SSF103473 SSF103473; 2 # UCSC uc003gfw human # eggNOG ENOG410XSE0 LUCA # eggNOG KOG2615 Eukaryota BLAST swissprot:MFS10_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:MFS10_HUMAN COXPRESdb 10227 http://coxpresdb.jp/data/gene/10227.shtml CleanEx HS_MFSD10 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_MFSD10 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1016/j.febslet.2007.03.001 http://dx.doi.org/10.1016/j.febslet.2007.03.001 DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1093/hmg/2.6.673 http://dx.doi.org/10.1093/hmg/2.6.673 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AL390065 http://www.ebi.ac.uk/ena/data/view/AL390065 EMBL BC001502 http://www.ebi.ac.uk/ena/data/view/BC001502 EMBL BC014979 http://www.ebi.ac.uk/ena/data/view/BC014979 EMBL CH471131 http://www.ebi.ac.uk/ena/data/view/CH471131 EMBL L11669 http://www.ebi.ac.uk/ena/data/view/L11669 Ensembl ENST00000329687 http://www.ensembl.org/id/ENST00000329687 Ensembl ENST00000355443 http://www.ensembl.org/id/ENST00000355443 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0030659 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030659 GO_component GO:0031526 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031526 GO_function GO:0008493 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008493 GO_function GO:0008514 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008514 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0006915 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006915 GO_process GO:0043252 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043252 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008219 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008219 GeneCards MFSD10 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=MFSD10 GeneID 10227 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=10227 GeneTree ENSGT00830000128422 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00830000128422 HGNC HGNC:16894 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:16894 HOGENOM HOG000209369 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000209369&db=HOGENOM6 HOVERGEN HBG053800 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG053800&db=HOVERGEN HPA HPA037398 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA037398 HPA HPA043209 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA043209 InParanoid Q14728 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q14728 IntAct Q14728 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q14728* InterPro IPR011701 http://www.ebi.ac.uk/interpro/entry/IPR011701 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 10227 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=10227 KEGG_Gene hsa:10227 http://www.genome.jp/dbget-bin/www_bget?hsa:10227 MIM 610977 http://www.ncbi.nlm.nih.gov/omim/610977 PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PSORT swissprot:MFS10_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:MFS10_HUMAN PSORT-B swissprot:MFS10_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:MFS10_HUMAN PSORT2 swissprot:MFS10_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:MFS10_HUMAN Pfam PF07690 http://pfam.xfam.org/family/PF07690 PharmGKB PA162395840 http://www.pharmgkb.org/do/serve?objId=PA162395840&objCls=Gene Phobius swissprot:MFS10_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:MFS10_HUMAN PhylomeDB Q14728 http://phylomedb.org/?seqid=Q14728 ProteinModelPortal Q14728 http://www.proteinmodelportal.org/query/uniprot/Q14728 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 PubMed 17362938 http://www.ncbi.nlm.nih.gov/pubmed/17362938 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 8353488 http://www.ncbi.nlm.nih.gov/pubmed/8353488 RefSeq NP_001111 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001111 RefSeq NP_001139541 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001139541 STRING 9606.ENSP00000332646 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000332646&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 UCSC uc003gfw http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003gfw&org=rat UniGene Hs.632581 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.632581 UniProtKB MFS10_HUMAN http://www.uniprot.org/uniprot/MFS10_HUMAN UniProtKB-AC Q14728 http://www.uniprot.org/uniprot/Q14728 charge swissprot:MFS10_HUMAN http://rest.g-language.org/emboss/charge/swissprot:MFS10_HUMAN eggNOG ENOG410XSE0 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XSE0 eggNOG KOG2615 http://eggnogapi.embl.de/nog_data/html/tree/KOG2615 epestfind swissprot:MFS10_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:MFS10_HUMAN garnier swissprot:MFS10_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:MFS10_HUMAN helixturnhelix swissprot:MFS10_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:MFS10_HUMAN hmoment swissprot:MFS10_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:MFS10_HUMAN iep swissprot:MFS10_HUMAN http://rest.g-language.org/emboss/iep/swissprot:MFS10_HUMAN inforesidue swissprot:MFS10_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:MFS10_HUMAN neXtProt NX_Q14728 http://www.nextprot.org/db/entry/NX_Q14728 octanol swissprot:MFS10_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:MFS10_HUMAN pepcoil swissprot:MFS10_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:MFS10_HUMAN pepdigest swissprot:MFS10_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:MFS10_HUMAN pepinfo swissprot:MFS10_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:MFS10_HUMAN pepnet swissprot:MFS10_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:MFS10_HUMAN pepstats swissprot:MFS10_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:MFS10_HUMAN pepwheel swissprot:MFS10_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:MFS10_HUMAN pepwindow swissprot:MFS10_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:MFS10_HUMAN sigcleave swissprot:MFS10_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:MFS10_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS RUFY1_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; Synonyms=rabip4'; IsoId=Q96T51-1; Sequence=Displayed; Name=2; Synonyms=rabip4; IsoId=Q96T51-2; Sequence=VSP_019785; Name=3; IsoId=Q96T51-3; Sequence=VSP_019786, VSP_019787; Note=No experimental confirmation available.; # AltName RUFY1_HUMAN FYVE-finger protein EIP1 # AltName RUFY1_HUMAN La-binding protein 1 # AltName RUFY1_HUMAN Rab4-interacting protein # AltName RUFY1_HUMAN Zinc finger FYVE domain-containing protein 12 # BioGrid 123193 57 # CCDS CCDS34312 -. [Q96T51-2] # CCDS CCDS4445 -. [Q96T51-1] # ChiTaRS RUFY1 human # DOMAIN RUFY1_HUMAN The FYVE-type zinc finger domain mediates interactions with phosphatidylinositol 3-phosphate in membranes of early endosomes and penetrates bilayers. The FYVE domain insertion into PtdIns(3)P-enriched membranes is substantially increased in acidic conditions. {ECO 0000269|PubMed 19296456}. # Ensembl ENST00000319449 ENSP00000325594; ENSG00000176783. [Q96T51-1] # Ensembl ENST00000393438 ENSP00000377087; ENSG00000176783. [Q96T51-2] # Ensembl ENST00000437570 ENSP00000390025; ENSG00000176783. [Q96T51-2] # ExpressionAtlas Q96T51 baseline and differential # FUNCTION RUFY1_HUMAN Binds phospholipid vesicles containing phosphatidylinositol 3-phosphate and participates in early endosomal trafficking. {ECO 0000269|PubMed 14617813}. # GO_component GO:0005634 nucleus; IDA:HPA. # GO_component GO:0005737 cytoplasm; IDA:HPA. # GO_component GO:0031901 early endosome membrane; IEA:UniProtKB-SubCell. # GO_component GO:0043231 intracellular membrane-bounded organelle; IDA:HPA. # GO_function GO:0008270 zinc ion binding; IEA:InterPro. # GO_function GO:0008289 lipid binding; IEA:UniProtKB-KW. # GO_function GO:0008565 protein transporter activity; IEA:Ensembl. # GO_process GO:0006897 endocytosis; IEA:UniProtKB-KW. # GO_process GO:0030100 regulation of endocytosis; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0043226 organelle # GOslim_function GO:0008289 lipid binding # GOslim_function GO:0008565 protein transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0008150 biological_process # GOslim_process GO:0016192 vesicle-mediated transport # Gene3D 3.30.40.10 -; 1. # Genevisible Q96T51 HS # HGNC HGNC:19760 RUFY1 # INTERACTION RUFY1_HUMAN Q68CQ4 DIEXF; NbExp=3; IntAct=EBI-3941207, EBI-747711; O75928 PIAS2; NbExp=3; IntAct=EBI-3941207, EBI-348555; Q96DA2 RAB39B; NbExp=3; IntAct=EBI-3941207, EBI-9089467; Q96QF0 RAB3IP; NbExp=3; IntAct=EBI-3941207, EBI-747844; Q9BRA2 TXNDC17; NbExp=3; IntAct=EBI-3941207, EBI-1055906; # IntAct Q96T51 14 # InterPro IPR000306 Znf_FYVE # InterPro IPR001841 Znf_RING # InterPro IPR004012 Run_dom # InterPro IPR011011 Znf_FYVE_PHD # InterPro IPR013083 Znf_RING/FYVE/PHD # InterPro IPR017455 Znf_FYVE-rel # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Pathway ko04144 Endocytosis # MIM 610327 gene # Organism RUFY1_HUMAN Homo sapiens (Human) # PDB 2YQM NMR; -; A=627-708 # PDB 2YW8 X-ray; 3.00 A; A=627-708 # PROSITE PS50178 ZF_FYVE # PROSITE PS50826 RUN # PTM RUFY1_HUMAN Phosphorylation on Tyr-389 and/or Tyr-400 is required for interaction with BMX and endosomal targeting. {ECO 0000269|PubMed 11877430}. # Pfam PF01363 FYVE # Pfam PF02759 RUN # Proteomes UP000005640 Chromosome 5 # Reactome R-HSA-1660499 Synthesis of PIPs at the plasma membrane # RecName RUFY1_HUMAN RUN and FYVE domain-containing protein 1 # RefSeq NP_001035541 NM_001040451.2. [Q96T51-2] # RefSeq NP_001035542 NM_001040452.2. [Q96T51-2] # RefSeq NP_079434 NM_025158.4. [Q96T51-1] # RefSeq XP_016865384 XM_017009895.1 # SEQUENCE CAUTION Sequence=AAK50771.1; Type=Frameshift; Positions=47, 88; Evidence={ECO:0000305}; Sequence=BAB15276.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Contains 1 FYVE-type zinc finger. {ECO:0000255|PROSITE-ProRule PRU00091}. # SIMILARITY Contains 1 RUN domain. {ECO:0000255|PROSITE- ProRule PRU00178}. # SMART SM00064 FYVE # SMART SM00593 RUN # SUBCELLULAR LOCATION RUFY1_HUMAN Cytoplasm. Early endosome membrane; Peripheral membrane protein. # SUBUNIT RUFY1_HUMAN Interacts with BMX. May interact with SSB. Interacts with RAB4 and RAB5 that have been activated by GTP-binding. {ECO 0000269|PubMed 11877430, ECO 0000269|PubMed 14617813}. # SUPFAM SSF57903 SSF57903 # TISSUE SPECIFICITY Broadly expressed, with highest levels in lung, testis, kidney and brain. {ECO:0000269|PubMed 11877430}. # UCSC uc003mka human. [Q96T51-1] # eggNOG ENOG410XRAX LUCA # eggNOG KOG1729 Eukaryota # eggNOG KOG4381 Eukaryota BLAST swissprot:RUFY1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:RUFY1_HUMAN BioCyc ZFISH:ENSG00000176783-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000176783-MONOMER COXPRESdb 80230 http://coxpresdb.jp/data/gene/80230.shtml CleanEx HS_RUFY1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_RUFY1 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1002/prot.22392 http://dx.doi.org/10.1002/prot.22392 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.M111933200 http://dx.doi.org/10.1074/jbc.M111933200 DOI 10.1091/mbc.E03-05-0343 http://dx.doi.org/10.1091/mbc.E03-05-0343 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1133427 http://dx.doi.org/10.1126/science.1133427 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AB209507 http://www.ebi.ac.uk/ena/data/view/AB209507 EMBL AF312367 http://www.ebi.ac.uk/ena/data/view/AF312367 EMBL AF361055 http://www.ebi.ac.uk/ena/data/view/AF361055 EMBL AK025904 http://www.ebi.ac.uk/ena/data/view/AK025904 EMBL AK075021 http://www.ebi.ac.uk/ena/data/view/AK075021 EMBL BC032571 http://www.ebi.ac.uk/ena/data/view/BC032571 Ensembl ENST00000319449 http://www.ensembl.org/id/ENST00000319449 Ensembl ENST00000393438 http://www.ensembl.org/id/ENST00000393438 Ensembl ENST00000437570 http://www.ensembl.org/id/ENST00000437570 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0031901 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031901 GO_component GO:0043231 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043231 GO_function GO:0008270 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008270 GO_function GO:0008289 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008289 GO_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GO_process GO:0006897 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006897 GO_process GO:0030100 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030100 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0008289 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008289 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0016192 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016192 Gene3D 3.30.40.10 http://www.cathdb.info/version/latest/superfamily/3.30.40.10 GeneCards RUFY1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=RUFY1 GeneID 80230 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=80230 GeneTree ENSGT00550000074558 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074558 HGNC HGNC:19760 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:19760 HOVERGEN HBG057053 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG057053&db=HOVERGEN HPA HPA038804 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA038804 HPA HPA057614 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA057614 InParanoid Q96T51 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q96T51 IntAct Q96T51 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q96T51* InterPro IPR000306 http://www.ebi.ac.uk/interpro/entry/IPR000306 InterPro IPR001841 http://www.ebi.ac.uk/interpro/entry/IPR001841 InterPro IPR004012 http://www.ebi.ac.uk/interpro/entry/IPR004012 InterPro IPR011011 http://www.ebi.ac.uk/interpro/entry/IPR011011 InterPro IPR013083 http://www.ebi.ac.uk/interpro/entry/IPR013083 InterPro IPR017455 http://www.ebi.ac.uk/interpro/entry/IPR017455 Jabion 80230 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=80230 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Gene hsa:80230 http://www.genome.jp/dbget-bin/www_bget?hsa:80230 KEGG_Orthology KO:K12482 http://www.genome.jp/dbget-bin/www_bget?KO:K12482 KEGG_Pathway ko04144 http://www.genome.jp/kegg-bin/show_pathway?ko04144 MIM 610327 http://www.ncbi.nlm.nih.gov/omim/610327 MINT MINT-7302811 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-7302811 OMA AILDQKH http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=AILDQKH OrthoDB EOG091G042J http://cegg.unige.ch/orthodb/results?searchtext=EOG091G042J PDB 2YQM http://www.ebi.ac.uk/pdbe-srv/view/entry/2YQM PDB 2YW8 http://www.ebi.ac.uk/pdbe-srv/view/entry/2YW8 PDBsum 2YQM http://www.ebi.ac.uk/pdbsum/2YQM PDBsum 2YW8 http://www.ebi.ac.uk/pdbsum/2YW8 PROSITE PS50178 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50178 PROSITE PS50826 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50826 PSORT swissprot:RUFY1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:RUFY1_HUMAN PSORT-B swissprot:RUFY1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:RUFY1_HUMAN PSORT2 swissprot:RUFY1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:RUFY1_HUMAN Pfam PF01363 http://pfam.xfam.org/family/PF01363 Pfam PF02759 http://pfam.xfam.org/family/PF02759 PharmGKB PA134944787 http://www.pharmgkb.org/do/serve?objId=PA134944787&objCls=Gene Phobius swissprot:RUFY1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:RUFY1_HUMAN PhylomeDB Q96T51 http://phylomedb.org/?seqid=Q96T51 ProteinModelPortal Q96T51 http://www.proteinmodelportal.org/query/uniprot/Q96T51 PubMed 11877430 http://www.ncbi.nlm.nih.gov/pubmed/11877430 PubMed 14617813 http://www.ncbi.nlm.nih.gov/pubmed/14617813 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16959974 http://www.ncbi.nlm.nih.gov/pubmed/16959974 PubMed 19296456 http://www.ncbi.nlm.nih.gov/pubmed/19296456 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 Reactome R-HSA-1660499 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1660499 RefSeq NP_001035541 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001035541 RefSeq NP_001035542 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001035542 RefSeq NP_079434 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_079434 RefSeq XP_016865384 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016865384 SMART SM00064 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00064 SMART SM00593 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00593 SMR Q96T51 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q96T51 STRING 9606.ENSP00000325594 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000325594&targetmode=cogs SUPFAM SSF57903 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF57903 UCSC uc003mka http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003mka&org=rat UniGene Hs.306769 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.306769 UniProtKB RUFY1_HUMAN http://www.uniprot.org/uniprot/RUFY1_HUMAN UniProtKB-AC Q96T51 http://www.uniprot.org/uniprot/Q96T51 charge swissprot:RUFY1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:RUFY1_HUMAN eggNOG ENOG410XRAX http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XRAX eggNOG KOG1729 http://eggnogapi.embl.de/nog_data/html/tree/KOG1729 eggNOG KOG4381 http://eggnogapi.embl.de/nog_data/html/tree/KOG4381 epestfind swissprot:RUFY1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:RUFY1_HUMAN garnier swissprot:RUFY1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:RUFY1_HUMAN helixturnhelix swissprot:RUFY1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:RUFY1_HUMAN hmoment swissprot:RUFY1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:RUFY1_HUMAN iep swissprot:RUFY1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:RUFY1_HUMAN inforesidue swissprot:RUFY1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:RUFY1_HUMAN neXtProt NX_Q96T51 http://www.nextprot.org/db/entry/NX_Q96T51 octanol swissprot:RUFY1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:RUFY1_HUMAN pepcoil swissprot:RUFY1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:RUFY1_HUMAN pepdigest swissprot:RUFY1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:RUFY1_HUMAN pepinfo swissprot:RUFY1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:RUFY1_HUMAN pepnet swissprot:RUFY1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:RUFY1_HUMAN pepstats swissprot:RUFY1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:RUFY1_HUMAN pepwheel swissprot:RUFY1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:RUFY1_HUMAN pepwindow swissprot:RUFY1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:RUFY1_HUMAN sigcleave swissprot:RUFY1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:RUFY1_HUMAN ## Database ID URL or Descriptions # BioGrid 107005 42 # ChiTaRS ATP5I human # Ensembl ENST00000304312 ENSP00000306003; ENSG00000169020 # FUNCTION ATP5I_HUMAN Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(0) domain. Minor subunit located with subunit a in the membrane. # GO_component GO:0000276 mitochondrial proton-transporting ATP synthase complex, coupling factor F(o); IEA:Ensembl. # GO_component GO:0005739 mitochondrion; IDA:HPA. # GO_component GO:0005743 mitochondrial inner membrane; TAS:Reactome. # GO_component GO:0005753 mitochondrial proton-transporting ATP synthase complex; IDA:UniProtKB. # GO_function GO:0015078 hydrogen ion transmembrane transporter activity; IEA:InterPro. # GO_function GO:0022857 transmembrane transporter activity; IC:UniProtKB. # GO_process GO:0006754 ATP biosynthetic process; TAS:Reactome. # GO_process GO:0042776 mitochondrial ATP synthesis coupled proton transport; IC:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005739 mitochondrion # GOslim_component GO:0043234 protein complex # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0044281 small molecule metabolic process # GOslim_process GO:0055085 transmembrane transport # Genevisible P56385 HS # HGNC HGNC:846 ATP5I # IntAct P56385 24 # InterPro IPR008386 ATP_synth_F0_esu_mt # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Brite ko01000 Enzymes # KEGG_Pathway ko00190 Oxidative phosphorylation # MIM 601519 gene # Organism ATP5I_HUMAN Homo sapiens (Human) # Pfam PF05680 ATP-synt_E # Proteomes UP000005640 Chromosome 4 # Reactome R-HSA-163210 Formation of ATP by chemiosmotic coupling # RecName ATP5I_HUMAN ATP synthase subunit e, mitochondrial # RecName ATP5I_HUMAN ATP synthase subunit e, mitochondrial, N-terminally processed # RefSeq NP_009031 NM_007100.3 # SIMILARITY Belongs to the ATPase e subunit family. {ECO 0000305}. # SUBCELLULAR LOCATION ATP5I_HUMAN Mitochondrion. Mitochondrion inner membrane. # SUBUNIT F-type ATPases have 2 components, CF(1) - the catalytic core - and CF(0) - the membrane proton channel. CF(0) seems to have nine subunits: a, b, c, d, e, f, g, F6 and 8 (or A6L). Component of an ATP synthase complex composed of ATP5F1, ATP5G1, ATP5E, ATP5H, ATP5I, ATP5J, ATP5J2, MT-ATP6, MT-ATP8, ATP5A1, ATP5B, ATP5D, ATP5C1, ATP5O, ATP5L, USMG5 and MP68 (By similarity). {ECO 0000250}. # UCSC uc003gas human # eggNOG ENOG410XYSS LUCA # eggNOG KOG4326 Eukaryota BLAST swissprot:ATP5I_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ATP5I_HUMAN BioCyc ZFISH:HS09866-MONOMER http://biocyc.org/getid?id=ZFISH:HS09866-MONOMER COXPRESdb 521 http://coxpresdb.jp/data/gene/521.shtml CleanEx HS_ATP5I http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ATP5I DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1073/pnas.0908958106 http://dx.doi.org/10.1073/pnas.0908958106 DOI 10.1073/pnas.1210303109 http://dx.doi.org/10.1073/pnas.1210303109 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL BC003679 http://www.ebi.ac.uk/ena/data/view/BC003679 EMBL BC105610 http://www.ebi.ac.uk/ena/data/view/BC105610 EMBL BT006922 http://www.ebi.ac.uk/ena/data/view/BT006922 EMBL D50371 http://www.ebi.ac.uk/ena/data/view/D50371 Ensembl ENST00000304312 http://www.ensembl.org/id/ENST00000304312 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000276 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000276 GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0005753 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005753 GO_function GO:0015078 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015078 GO_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GO_process GO:0006754 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006754 GO_process GO:0042776 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042776 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards ATP5I http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ATP5I GeneID 521 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=521 GeneTree ENSGT00390000005102 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000005102 HGNC HGNC:846 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:846 HOGENOM HOG000231826 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231826&db=HOGENOM6 HOVERGEN HBG050613 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050613&db=HOVERGEN HPA HPA035010 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA035010 InParanoid P56385 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P56385 IntAct P56385 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P56385* InterPro IPR008386 http://www.ebi.ac.uk/interpro/entry/IPR008386 Jabion 521 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=521 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00002 http://www.genome.jp/dbget-bin/www_bget?ko00002 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Gene hsa:521 http://www.genome.jp/dbget-bin/www_bget?hsa:521 KEGG_Orthology KO:K02129 http://www.genome.jp/dbget-bin/www_bget?KO:K02129 KEGG_Pathway ko00190 http://www.genome.jp/kegg-bin/show_pathway?ko00190 MIM 601519 http://www.ncbi.nlm.nih.gov/omim/601519 OMA EQERIYK http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=EQERIYK OrthoDB EOG091G13NK http://cegg.unige.ch/orthodb/results?searchtext=EOG091G13NK PSORT swissprot:ATP5I_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ATP5I_HUMAN PSORT-B swissprot:ATP5I_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ATP5I_HUMAN PSORT2 swissprot:ATP5I_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ATP5I_HUMAN Pfam PF05680 http://pfam.xfam.org/family/PF05680 PharmGKB PA25136 http://www.pharmgkb.org/do/serve?objId=PA25136&objCls=Gene Phobius swissprot:ATP5I_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ATP5I_HUMAN PhylomeDB P56385 http://phylomedb.org/?seqid=P56385 ProteinModelPortal P56385 http://www.proteinmodelportal.org/query/uniprot/P56385 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 19892738 http://www.ncbi.nlm.nih.gov/pubmed/19892738 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 22814378 http://www.ncbi.nlm.nih.gov/pubmed/22814378 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 Reactome R-HSA-163210 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-163210 RefSeq NP_009031 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_009031 STRING 9606.ENSP00000306003 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000306003&targetmode=cogs UCSC uc003gas http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003gas&org=rat UniGene Hs.85539 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.85539 UniProtKB ATP5I_HUMAN http://www.uniprot.org/uniprot/ATP5I_HUMAN UniProtKB-AC P56385 http://www.uniprot.org/uniprot/P56385 charge swissprot:ATP5I_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ATP5I_HUMAN eggNOG ENOG410XYSS http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XYSS eggNOG KOG4326 http://eggnogapi.embl.de/nog_data/html/tree/KOG4326 epestfind swissprot:ATP5I_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ATP5I_HUMAN garnier swissprot:ATP5I_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ATP5I_HUMAN helixturnhelix swissprot:ATP5I_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ATP5I_HUMAN hmoment swissprot:ATP5I_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ATP5I_HUMAN iep swissprot:ATP5I_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ATP5I_HUMAN inforesidue swissprot:ATP5I_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ATP5I_HUMAN neXtProt NX_P56385 http://www.nextprot.org/db/entry/NX_P56385 octanol swissprot:ATP5I_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ATP5I_HUMAN pepcoil swissprot:ATP5I_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ATP5I_HUMAN pepdigest swissprot:ATP5I_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ATP5I_HUMAN pepinfo swissprot:ATP5I_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ATP5I_HUMAN pepnet swissprot:ATP5I_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ATP5I_HUMAN pepstats swissprot:ATP5I_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ATP5I_HUMAN pepwheel swissprot:ATP5I_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ATP5I_HUMAN pepwindow swissprot:ATP5I_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ATP5I_HUMAN sigcleave swissprot:ATP5I_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ATP5I_HUMAN ## Database ID URL or Descriptions # BioGrid 119574 8 # ChiTaRS C11orf73 human # DISEASE HIKES_HUMAN Leukodystrophy, hypomyelinating, 13 (HLD13) [MIM 616881] An autosomal recessive neurodegenerative disorder with infantile onset, affecting mainly the central white matter. Clinical features include early feeding difficulties, global developmental delay, postnatal progressive microcephaly, truncal hypotonia, spasticity, and variable neurologic deficits, such as visual impairment. {ECO 0000269|PubMed 26545878}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000278483 ENSP00000278483; ENSG00000149196 # ExpressionAtlas Q53FT3 baseline and differential # FUNCTION HIKES_HUMAN Acts as a specific nuclear import carrier for HSP70 proteins following heat-shock stress acts by mediating the nucleoporin-dependent translocation of ATP-bound HSP70 proteins into the nucleus. HSP70 proteins import is required to protect cells from heat shock damages. Does not translocate ADP-bound HSP70 proteins into the nucleus. {ECO 0000269|PubMed 22541429}. # GO_component GO:0005622 intracellular; IDA:UniProtKB. # GO_component GO:0005634 nucleus; IDA:UniProtKB. # GO_component GO:0005654 nucleoplasm; TAS:Reactome. # GO_component GO:0005829 cytosol; IDA:UniProtKB. # GO_component GO:0030054 cell junction; IDA:HPA. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0008565 protein transporter activity; IDA:UniProtKB. # GO_function GO:0030544 Hsp70 protein binding; IDA:UniProtKB. # GO_process GO:0006606 protein import into nucleus; IDA:UniProtKB. # GO_process GO:0015031 protein transport; IDA:UniProtKB. # GO_process GO:0034605 cellular response to heat; IDA:UniProtKB. # GO_process GO:1900034 regulation of cellular response to heat; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005622 intracellular # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005654 nucleoplasm # GOslim_component GO:0005829 cytosol # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0008565 protein transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0006913 nucleocytoplasmic transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0008150 biological_process # Genevisible Q53FT3 HS # HGNC HGNC:26938 HIKESHI # INDUCTION Following heat-shock treatment. {ECO:0000269|PubMed 22541429}. # IntAct Q53FT3 5 # InterPro IPR008493 DUF775 # InterPro IPR031318 OPI10 # MIM 614908 gene # MIM 616881 phenotype # MISCELLANEOUS 'Hikeshi' is a traditional Japanese compound word used for a firefighter, smokejumper, or troubleshooter. {ECO:0000305|PubMed 22541429}. # Organism HIKES_HUMAN Homo sapiens (Human) # PANTHER PTHR12925:SF0 PTHR12925:SF0 # PDB 3WVZ X-ray; 1.88 A; A/B=1-197 # PDB 3WW0 X-ray; 2.50 A; A/B=1-197 # Pfam PF05603 DUF775 # Proteomes UP000005640 Chromosome 11 # Reactome R-HSA-3371453 Regulation of HSF1-mediated heat shock response # RecName HIKES_HUMAN Protein Hikeshi # RefSeq NP_057485 NM_016401.3 # SEQUENCE CAUTION Sequence=AAF29102.1; Type=Frameshift; Positions=62, 68; Evidence={ECO:0000305}; Sequence=AAF29142.1; Type=Frameshift; Positions=9, 57; Evidence={ECO 0000305}; Sequence=AAF36168.1; Type=Frameshift; Positions=67; Evidence={ECO:0000305}; # SIMILARITY Belongs to the OPI10 family. {ECO 0000305}. # SUBCELLULAR LOCATION HIKES_HUMAN Cytoplasm, cytosol {ECO 0000269|PubMed 22541429}. Nucleus {ECO 0000269|PubMed 22541429}. # SUBUNIT Interacts with ATP-bound HSP70 proteins. Interacts with NUP62 and NUP153 (via F-X-F-G repeats). {ECO:0000269|PubMed 22541429}. # UCSC uc001pbu human # eggNOG ENOG4111H6N LUCA # eggNOG KOG4067 Eukaryota BLAST swissprot:HIKES_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:HIKES_HUMAN COXPRESdb 51501 http://coxpresdb.jp/data/gene/51501.shtml CleanEx HS_C11orf73 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_C11orf73 DOI 10.1016/j.cell.2012.02.058 http://dx.doi.org/10.1016/j.cell.2012.02.058 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.1210303109 http://dx.doi.org/10.1073/pnas.1210303109 DOI 10.1101/gr.140200 http://dx.doi.org/10.1101/gr.140200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1136/jmedgenet-2015-103232 http://dx.doi.org/10.1136/jmedgenet-2015-103232 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AF151082 http://www.ebi.ac.uk/ena/data/view/AF151082 EMBL AF161487 http://www.ebi.ac.uk/ena/data/view/AF161487 EMBL AF161527 http://www.ebi.ac.uk/ena/data/view/AF161527 EMBL AK001447 http://www.ebi.ac.uk/ena/data/view/AK001447 EMBL AK223198 http://www.ebi.ac.uk/ena/data/view/AK223198 EMBL BC001677 http://www.ebi.ac.uk/ena/data/view/BC001677 EMBL BC006476 http://www.ebi.ac.uk/ena/data/view/BC006476 EMBL BC015991 http://www.ebi.ac.uk/ena/data/view/BC015991 EMBL BC018080 http://www.ebi.ac.uk/ena/data/view/BC018080 EMBL BC021621 http://www.ebi.ac.uk/ena/data/view/BC021621 Ensembl ENST00000278483 http://www.ensembl.org/id/ENST00000278483 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005622 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005622 GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GO_function GO:0030544 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030544 GO_process GO:0006606 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006606 GO_process GO:0015031 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015031 GO_process GO:0034605 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034605 GO_process GO:1900034 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1900034 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005622 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005622 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006913 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006913 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GeneCards C11orf73 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=C11orf73 GeneID 51501 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=51501 GeneTree ENSGT00390000004056 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000004056 HGNC HGNC:26938 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:26938 HOGENOM HOG000175561 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000175561&db=HOGENOM6 HOVERGEN HBG081226 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG081226&db=HOVERGEN HPA HPA035063 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA035063 HPA HPA035064 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA035064 InParanoid Q53FT3 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q53FT3 IntAct Q53FT3 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q53FT3* InterPro IPR008493 http://www.ebi.ac.uk/interpro/entry/IPR008493 InterPro IPR031318 http://www.ebi.ac.uk/interpro/entry/IPR031318 Jabion 51501 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=51501 KEGG_Gene hsa:51501 http://www.genome.jp/dbget-bin/www_bget?hsa:51501 MIM 614908 http://www.ncbi.nlm.nih.gov/omim/614908 MIM 616881 http://www.ncbi.nlm.nih.gov/omim/616881 MINT MINT-3047121 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-3047121 OMA QFGQRML http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=QFGQRML OrthoDB EOG091G0LVQ http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0LVQ PANTHER PTHR12925:SF0 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12925:SF0 PDB 3WVZ http://www.ebi.ac.uk/pdbe-srv/view/entry/3WVZ PDB 3WW0 http://www.ebi.ac.uk/pdbe-srv/view/entry/3WW0 PDBsum 3WVZ http://www.ebi.ac.uk/pdbsum/3WVZ PDBsum 3WW0 http://www.ebi.ac.uk/pdbsum/3WW0 PSORT swissprot:HIKES_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:HIKES_HUMAN PSORT-B swissprot:HIKES_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:HIKES_HUMAN PSORT2 swissprot:HIKES_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:HIKES_HUMAN Pfam PF05603 http://pfam.xfam.org/family/PF05603 PharmGKB PA144596492 http://www.pharmgkb.org/do/serve?objId=PA144596492&objCls=Gene Phobius swissprot:HIKES_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:HIKES_HUMAN PhylomeDB Q53FT3 http://phylomedb.org/?seqid=Q53FT3 ProteinModelPortal Q53FT3 http://www.proteinmodelportal.org/query/uniprot/Q53FT3 PubMed 11042152 http://www.ncbi.nlm.nih.gov/pubmed/11042152 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 22541429 http://www.ncbi.nlm.nih.gov/pubmed/22541429 PubMed 22814378 http://www.ncbi.nlm.nih.gov/pubmed/22814378 PubMed 26545878 http://www.ncbi.nlm.nih.gov/pubmed/26545878 Reactome R-HSA-3371453 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-3371453 RefSeq NP_057485 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_057485 SMR Q53FT3 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q53FT3 STRING 9606.ENSP00000278483 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000278483&targetmode=cogs UCSC uc001pbu http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001pbu&org=rat UniGene Hs.283322 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.283322 UniProtKB HIKES_HUMAN http://www.uniprot.org/uniprot/HIKES_HUMAN UniProtKB-AC Q53FT3 http://www.uniprot.org/uniprot/Q53FT3 charge swissprot:HIKES_HUMAN http://rest.g-language.org/emboss/charge/swissprot:HIKES_HUMAN eggNOG ENOG4111H6N http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111H6N eggNOG KOG4067 http://eggnogapi.embl.de/nog_data/html/tree/KOG4067 epestfind swissprot:HIKES_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:HIKES_HUMAN garnier swissprot:HIKES_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:HIKES_HUMAN helixturnhelix swissprot:HIKES_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:HIKES_HUMAN hmoment swissprot:HIKES_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:HIKES_HUMAN iep swissprot:HIKES_HUMAN http://rest.g-language.org/emboss/iep/swissprot:HIKES_HUMAN inforesidue swissprot:HIKES_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:HIKES_HUMAN neXtProt NX_Q53FT3 http://www.nextprot.org/db/entry/NX_Q53FT3 octanol swissprot:HIKES_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:HIKES_HUMAN pepcoil swissprot:HIKES_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:HIKES_HUMAN pepdigest swissprot:HIKES_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:HIKES_HUMAN pepinfo swissprot:HIKES_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:HIKES_HUMAN pepnet swissprot:HIKES_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:HIKES_HUMAN pepstats swissprot:HIKES_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:HIKES_HUMAN pepwheel swissprot:HIKES_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:HIKES_HUMAN pepwindow swissprot:HIKES_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:HIKES_HUMAN sigcleave swissprot:HIKES_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:HIKES_HUMAN ## Database ID URL or Descriptions # AltName QCR1_HUMAN Complex III subunit 1 # AltName QCR1_HUMAN Core protein I # AltName QCR1_HUMAN Ubiquinol-cytochrome-c reductase complex core protein 1 # BioGrid 113230 53 # CAUTION Does not seem to have a protease activity as it lack the zinc-binding site. {ECO 0000305}. # ChiTaRS UQCRC1 human # Ensembl ENST00000203407 ENSP00000203407; ENSG00000010256 # ExpressionAtlas P31930 baseline and differential # FUNCTION QCR1_HUMAN This is a component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex), which is part of the mitochondrial respiratory chain. This protein may mediate formation of the complex between cytochromes c and c1. # GO_component GO:0005739 mitochondrion; IDA:UniProtKB. # GO_component GO:0005743 mitochondrial inner membrane; TAS:Reactome. # GO_component GO:0005746 mitochondrial respiratory chain; TAS:ProtInc. # GO_component GO:0005750 mitochondrial respiratory chain complex III; IBA:GO_Central. # GO_component GO:0043209 myelin sheath; IEA:Ensembl. # GO_function GO:0004222 metalloendopeptidase activity; IBA:GO_Central. # GO_function GO:0008121 ubiquinol-cytochrome-c reductase activity; TAS:ProtInc. # GO_function GO:0008270 zinc ion binding; IBA:GO_Central. # GO_function GO:0031625 ubiquitin protein ligase binding; IPI:ParkinsonsUK-UCL. # GO_process GO:0006119 oxidative phosphorylation; TAS:ProtInc. # GO_process GO:0006122 mitochondrial electron transport, ubiquinol to cytochrome c; IBA:GO_Central. # GO_process GO:0009060 aerobic respiration; TAS:ProtInc. # GO_process GO:0014823 response to activity; IEA:Ensembl. # GO_process GO:0016485 protein processing; IBA:GO_Central. # GO_process GO:0043279 response to alkaloid; IEA:Ensembl. # GO_process GO:0055114 oxidation-reduction process; TAS:ProtInc. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005739 mitochondrion # GOslim_component GO:0043234 protein complex # GOslim_function GO:0008233 peptidase activity # GOslim_function GO:0016491 oxidoreductase activity # GOslim_function GO:0019899 enzyme binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006091 generation of precursor metabolites and energy # GOslim_process GO:0008150 biological_process # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0044281 small molecule metabolic process # GOslim_process GO:0051604 protein maturation # Gene3D 3.30.830.10 -; 2. # Genevisible P31930 HS # HGNC HGNC:12585 UQCRC1 # IntAct P31930 27 # InterPro IPR007863 Peptidase_M16_C # InterPro IPR011237 Pept_M16_dom # InterPro IPR011249 Metalloenz_LuxS/M16 # InterPro IPR011765 Pept_M16_N # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Pathway ko00190 Oxidative phosphorylation # KEGG_Pathway ko04260 Cardiac muscle contraction # KEGG_Pathway ko05010 Alzheimer's disease # KEGG_Pathway ko05012 Parkinson's disease # KEGG_Pathway ko05016 Huntington's disease # MIM 191328 gene # Organism QCR1_HUMAN Homo sapiens (Human) # PIR A48043 A48043 # Pfam PF00675 Peptidase_M16 # Pfam PF05193 Peptidase_M16_C # Proteomes UP000005640 Chromosome 3 # Reactome R-HSA-611105 Respiratory electron transport # RecName QCR1_HUMAN Cytochrome b-c1 complex subunit 1, mitochondrial # RefSeq NP_003356 NM_003365.2 # SIMILARITY Belongs to the peptidase M16 family. UQCRC1/QCR1 subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION QCR1_HUMAN Mitochondrion inner membrane. # SUBUNIT The bc1 complex contains 11 subunits 3 respiratory subunits (cytochrome b, cytochrome c1 and Rieske/UQCRFS1), 2 core proteins (UQCRC1/QCR1 and UQCRC2/QCR2) and 6 low-molecular weight proteins (UQCRH/QCR6, UQCRB/QCR7, UQCRQ/QCR8, UQCR10/QCR9, UQCR11/QCR10 and a cleavage product of Rieske/UQCRFS1). # SUPFAM SSF63411 SSF63411; 2 # UCSC uc003cub human # eggNOG COG0612 LUCA # eggNOG KOG0960 Eukaryota BLAST swissprot:QCR1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:QCR1_HUMAN BioCyc ZFISH:HS00277-MONOMER http://biocyc.org/getid?id=ZFISH:HS00277-MONOMER COXPRESdb 7384 http://coxpresdb.jp/data/gene/7384.shtml CleanEx HS_UQCRC1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_UQCRC1 DOI 10.1002/elps.11501401181 http://dx.doi.org/10.1002/elps.11501401181 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1007/s004390050988 http://dx.doi.org/10.1007/s004390050988 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1042/BJ20040647 http://dx.doi.org/10.1042/BJ20040647 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1175371 http://dx.doi.org/10.1126/science.1175371 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AK313090 http://www.ebi.ac.uk/ena/data/view/AK313090 EMBL BC009586 http://www.ebi.ac.uk/ena/data/view/BC009586 EMBL CH471055 http://www.ebi.ac.uk/ena/data/view/CH471055 EMBL D26485 http://www.ebi.ac.uk/ena/data/view/D26485 EMBL L16842 http://www.ebi.ac.uk/ena/data/view/L16842 Ensembl ENST00000203407 http://www.ensembl.org/id/ENST00000203407 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0005746 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005746 GO_component GO:0005750 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005750 GO_component GO:0043209 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043209 GO_function GO:0004222 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004222 GO_function GO:0008121 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008121 GO_function GO:0008270 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008270 GO_function GO:0031625 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031625 GO_process GO:0006119 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006119 GO_process GO:0006122 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006122 GO_process GO:0009060 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009060 GO_process GO:0014823 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014823 GO_process GO:0016485 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016485 GO_process GO:0043279 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043279 GO_process GO:0055114 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055114 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0008233 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008233 GOslim_function GO:0016491 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016491 GOslim_function GO:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006091 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GOslim_process GO:0051604 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051604 Gene3D 3.30.830.10 http://www.cathdb.info/version/latest/superfamily/3.30.830.10 GeneCards UQCRC1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=UQCRC1 GeneID 7384 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=7384 GeneTree ENSGT00550000074701 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074701 HGNC HGNC:12585 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:12585 HOGENOM HOG000242450 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000242450&db=HOGENOM6 HOVERGEN HBG006393 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG006393&db=HOVERGEN HPA CAB033782 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB033782 HPA HPA002815 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA002815 HPA HPA003525 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA003525 InParanoid P31930 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P31930 IntAct P31930 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P31930* InterPro IPR007863 http://www.ebi.ac.uk/interpro/entry/IPR007863 InterPro IPR011237 http://www.ebi.ac.uk/interpro/entry/IPR011237 InterPro IPR011249 http://www.ebi.ac.uk/interpro/entry/IPR011249 InterPro IPR011765 http://www.ebi.ac.uk/interpro/entry/IPR011765 Jabion 7384 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=7384 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00002 http://www.genome.jp/dbget-bin/www_bget?ko00002 KEGG_Gene hsa:7384 http://www.genome.jp/dbget-bin/www_bget?hsa:7384 KEGG_Orthology KO:K00414 http://www.genome.jp/dbget-bin/www_bget?KO:K00414 KEGG_Pathway ko00190 http://www.genome.jp/kegg-bin/show_pathway?ko00190 KEGG_Pathway ko04260 http://www.genome.jp/kegg-bin/show_pathway?ko04260 KEGG_Pathway ko05010 http://www.genome.jp/kegg-bin/show_pathway?ko05010 KEGG_Pathway ko05012 http://www.genome.jp/kegg-bin/show_pathway?ko05012 KEGG_Pathway ko05016 http://www.genome.jp/kegg-bin/show_pathway?ko05016 MIM 191328 http://www.ncbi.nlm.nih.gov/omim/191328 MINT MINT-3012677 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-3012677 OMA DDMMFFL http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=DDMMFFL OrthoDB EOG091G05W9 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G05W9 PSORT swissprot:QCR1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:QCR1_HUMAN PSORT-B swissprot:QCR1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:QCR1_HUMAN PSORT2 swissprot:QCR1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:QCR1_HUMAN Pfam PF00675 http://pfam.xfam.org/family/PF00675 Pfam PF05193 http://pfam.xfam.org/family/PF05193 PharmGKB PA37216 http://www.pharmgkb.org/do/serve?objId=PA37216&objCls=Gene Phobius swissprot:QCR1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:QCR1_HUMAN PhylomeDB P31930 http://phylomedb.org/?seqid=P31930 ProteinModelPortal P31930 http://www.proteinmodelportal.org/query/uniprot/P31930 PubMed 10453733 http://www.ncbi.nlm.nih.gov/pubmed/10453733 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15242332 http://www.ncbi.nlm.nih.gov/pubmed/15242332 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 19608861 http://www.ncbi.nlm.nih.gov/pubmed/19608861 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 7951059 http://www.ncbi.nlm.nih.gov/pubmed/7951059 PubMed 7981668 http://www.ncbi.nlm.nih.gov/pubmed/7981668 PubMed 8069229 http://www.ncbi.nlm.nih.gov/pubmed/8069229 PubMed 8313870 http://www.ncbi.nlm.nih.gov/pubmed/8313870 PubMed 8407948 http://www.ncbi.nlm.nih.gov/pubmed/8407948 Reactome R-HSA-611105 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-611105 RefSeq NP_003356 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_003356 SMR P31930 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P31930 STRING 9606.ENSP00000203407 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000203407&targetmode=cogs SUPFAM SSF63411 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF63411 SWISS-2DPAGE P31930 http://world-2dpage.expasy.org/swiss-2dpage/protein/ac=P31930 UCSC uc003cub http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003cub&org=rat UniGene Hs.119251 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.119251 UniProtKB QCR1_HUMAN http://www.uniprot.org/uniprot/QCR1_HUMAN UniProtKB-AC P31930 http://www.uniprot.org/uniprot/P31930 charge swissprot:QCR1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:QCR1_HUMAN eggNOG COG0612 http://eggnogapi.embl.de/nog_data/html/tree/COG0612 eggNOG KOG0960 http://eggnogapi.embl.de/nog_data/html/tree/KOG0960 epestfind swissprot:QCR1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:QCR1_HUMAN garnier swissprot:QCR1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:QCR1_HUMAN helixturnhelix swissprot:QCR1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:QCR1_HUMAN hmoment swissprot:QCR1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:QCR1_HUMAN iep swissprot:QCR1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:QCR1_HUMAN inforesidue swissprot:QCR1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:QCR1_HUMAN neXtProt NX_P31930 http://www.nextprot.org/db/entry/NX_P31930 octanol swissprot:QCR1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:QCR1_HUMAN pepcoil swissprot:QCR1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:QCR1_HUMAN pepdigest swissprot:QCR1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:QCR1_HUMAN pepinfo swissprot:QCR1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:QCR1_HUMAN pepnet swissprot:QCR1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:QCR1_HUMAN pepstats swissprot:QCR1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:QCR1_HUMAN pepwheel swissprot:QCR1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:QCR1_HUMAN pepwindow swissprot:QCR1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:QCR1_HUMAN sigcleave swissprot:QCR1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:QCR1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S17A4_HUMAN Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q9Y2C5-1; Sequence=Displayed; Name=2; IsoId=Q9Y2C5-2; Sequence=VSP_031178; Name=3; IsoId=Q9Y2C5-3; Sequence=VSP_054938; Note=No experimental confirmation available.; Name=4; IsoId=Q9Y2C5-4; Sequence=VSP_031178, VSP_054939, VSP_054940, VSP_054941; Note=No experimental confirmation available.; # AltName S17A4_HUMAN Solute carrier family 17 member 4 # CCDS CCDS4564 -. [Q9Y2C5-1] # CCDS CCDS75411 -. [Q9Y2C5-2] # CDD cd06174 MFS # Ensembl ENST00000377905 ENSP00000367137; ENSG00000146039. [Q9Y2C5-1] # Ensembl ENST00000397076 ENSP00000380266; ENSG00000146039. [Q9Y2C5-4] # Ensembl ENST00000439485 ENSP00000391345; ENSG00000146039. [Q9Y2C5-2] # ExpressionAtlas Q9Y2C5 baseline and differential # FUNCTION S17A4_HUMAN Acts as a membrane potential-dependent organic anion transporter, the transport requires a low concentration of chloride ions. May be involved in urate extrusion from the intestinal duct. May recognize hydrophilic anionic drugs such as aspirin, salicylate, and ibuprofen as substrates. Able to actively transport inorganic phosphate into cells via Na(+) cotransport (in vitro). {ECO 0000269|PubMed 22460716}. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0016020 membrane; TAS:ProtInc. # GO_component GO:0016324 apical plasma membrane; IEA:UniProtKB-SubCell. # GO_function GO:0015321 sodium-dependent phosphate transmembrane transporter activity; IBA:GO_Central. # GO_function S17A4_HUMAN GO 0005436 sodium phosphate symporter activity; TAS ProtInc. # GO_process GO:0006796 phosphate-containing compound metabolic process; TAS:ProtInc. # GO_process GO:0006814 sodium ion transport; TAS:ProtInc. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # Genevisible Q9Y2C5 HS # HGNC HGNC:10932 SLC17A4 # InterPro IPR011701 MFS # InterPro IPR020846 MFS_dom # KEGG_Brite ko02000 Transporters # KEGG_Brite ko02001 Solute carrier family # MIM 604216 gene # Organism S17A4_HUMAN Homo sapiens (Human) # PROSITE PS50850 MFS # Pfam PF07690 MFS_1 # Proteomes UP000005640 Chromosome 6 # RecName S17A4_HUMAN Probable small intestine urate exporter # RefSeq NP_001273050 NM_001286121.1. [Q9Y2C5-2] # RefSeq NP_005486 NM_005495.2. [Q9Y2C5-1] # RefSeq XP_011512513 XM_011514211.1. [Q9Y2C5-2] # RefSeq XP_011512521 XM_011514219.2. [Q9Y2C5-3] # SIMILARITY Belongs to the major facilitator superfamily. Sodium/anion cotransporter family. {ECO 0000305}. # SUBCELLULAR LOCATION S17A4_HUMAN Apical cell membrane {ECO 0000269|PubMed 22460716}; Multi-pass membrane protein {ECO 0000269|PubMed 22460716}. Cell membrane {ECO 0000269|PubMed 22460716}; Multi-pass membrane protein {ECO 0000269|PubMed 22460716}. Note=Apical in the intestinal brush border. # SUPFAM SSF103473 SSF103473; 2 # TCDB 2.A.1.14.24 the major facilitator superfamily (mfs) # TISSUE SPECIFICITY S17A4_HUMAN Abundantly expressed in pancreas, liver, colon and small intestine, less in kidney. Not detected in the adrenal glands, brain, placenta, heart, testis, skeletal muscle, and lungs. {ECO 0000269|PubMed 10319585, ECO 0000269|PubMed 22460716}. # UCSC uc003nfe human. [Q9Y2C5-1] # eggNOG ENOG410XPWC LUCA # eggNOG KOG2532 Eukaryota BLAST swissprot:S17A4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S17A4_HUMAN BioCyc ZFISH:ENSG00000146039-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000146039-MONOMER COXPRESdb 10050 http://coxpresdb.jp/data/gene/10050.shtml CleanEx HS_SLC17A4 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC17A4 DOI 10.1007/s100380050140 http://dx.doi.org/10.1007/s100380050140 DOI 10.1038/nature02055 http://dx.doi.org/10.1038/nature02055 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1152/ajpcell.00015.2012 http://dx.doi.org/10.1152/ajpcell.00015.2012 EMBL AB020527 http://www.ebi.ac.uk/ena/data/view/AB020527 EMBL AK293354 http://www.ebi.ac.uk/ena/data/view/AK293354 EMBL AL391194 http://www.ebi.ac.uk/ena/data/view/AL391194 EMBL BC109207 http://www.ebi.ac.uk/ena/data/view/BC109207 EMBL BC109208 http://www.ebi.ac.uk/ena/data/view/BC109208 EMBL CH471087 http://www.ebi.ac.uk/ena/data/view/CH471087 Ensembl ENST00000377905 http://www.ensembl.org/id/ENST00000377905 Ensembl ENST00000397076 http://www.ensembl.org/id/ENST00000397076 Ensembl ENST00000439485 http://www.ensembl.org/id/ENST00000439485 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_function GO:0005436 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005436 GO_function GO:0015321 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015321 GO_process GO:0006796 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006796 GO_process GO:0006814 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006814 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GeneCards SLC17A4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC17A4 GeneID 10050 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=10050 GeneTree ENSGT00760000119079 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119079 HGNC HGNC:10932 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10932 HOGENOM HOG000169313 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000169313&db=HOGENOM6 HOVERGEN HBG008834 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG008834&db=HOVERGEN HPA HPA030179 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA030179 InParanoid Q9Y2C5 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9Y2C5 InterPro IPR011701 http://www.ebi.ac.uk/interpro/entry/IPR011701 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 10050 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=10050 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:10050 http://www.genome.jp/dbget-bin/www_bget?hsa:10050 KEGG_Orthology KO:K12300 http://www.genome.jp/dbget-bin/www_bget?KO:K12300 MIM 604216 http://www.ncbi.nlm.nih.gov/omim/604216 OMA ILQLCNF http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=ILQLCNF OrthoDB EOG091G080B http://cegg.unige.ch/orthodb/results?searchtext=EOG091G080B PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PSORT swissprot:S17A4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S17A4_HUMAN PSORT-B swissprot:S17A4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S17A4_HUMAN PSORT2 swissprot:S17A4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S17A4_HUMAN Pfam PF07690 http://pfam.xfam.org/family/PF07690 PharmGKB PA35823 http://www.pharmgkb.org/do/serve?objId=PA35823&objCls=Gene Phobius swissprot:S17A4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S17A4_HUMAN PhylomeDB Q9Y2C5 http://phylomedb.org/?seqid=Q9Y2C5 ProteinModelPortal Q9Y2C5 http://www.proteinmodelportal.org/query/uniprot/Q9Y2C5 PubMed 10319585 http://www.ncbi.nlm.nih.gov/pubmed/10319585 PubMed 14574404 http://www.ncbi.nlm.nih.gov/pubmed/14574404 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 22460716 http://www.ncbi.nlm.nih.gov/pubmed/22460716 RefSeq NP_001273050 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001273050 RefSeq NP_005486 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_005486 RefSeq XP_011512513 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011512513 RefSeq XP_011512521 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011512521 STRING 9606.ENSP00000367137 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000367137&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.1.14.24 http://www.tcdb.org/search/result.php?tc=2.A.1.14.24 UCSC uc003nfe http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003nfe&org=rat UniGene Hs.282931 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.282931 UniProtKB S17A4_HUMAN http://www.uniprot.org/uniprot/S17A4_HUMAN UniProtKB-AC Q9Y2C5 http://www.uniprot.org/uniprot/Q9Y2C5 charge swissprot:S17A4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S17A4_HUMAN eggNOG ENOG410XPWC http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XPWC eggNOG KOG2532 http://eggnogapi.embl.de/nog_data/html/tree/KOG2532 epestfind swissprot:S17A4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S17A4_HUMAN garnier swissprot:S17A4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S17A4_HUMAN helixturnhelix swissprot:S17A4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S17A4_HUMAN hmoment swissprot:S17A4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S17A4_HUMAN iep swissprot:S17A4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S17A4_HUMAN inforesidue swissprot:S17A4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S17A4_HUMAN neXtProt NX_Q9Y2C5 http://www.nextprot.org/db/entry/NX_Q9Y2C5 octanol swissprot:S17A4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S17A4_HUMAN pepcoil swissprot:S17A4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S17A4_HUMAN pepdigest swissprot:S17A4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S17A4_HUMAN pepinfo swissprot:S17A4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S17A4_HUMAN pepnet swissprot:S17A4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S17A4_HUMAN pepstats swissprot:S17A4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S17A4_HUMAN pepwheel swissprot:S17A4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S17A4_HUMAN pepwindow swissprot:S17A4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S17A4_HUMAN sigcleave swissprot:S17A4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S17A4_HUMAN ## Database ID URL or Descriptions # AltName Placental protein 15 {ECO:0000303|PubMed 3380696} # BioGrid 115499 34 # CDD cd00780 NTF2 # ChiTaRS NUTF2 human # Ensembl ENST00000219169 ENSP00000219169; ENSG00000102898 # Ensembl ENST00000568396 ENSP00000457022; ENSG00000102898 # Ensembl ENST00000569436 ENSP00000457989; ENSG00000102898 # ExpressionAtlas P61970 baseline and differential # FUNCTION NTF2_HUMAN Mediates the import of GDP-bound RAN from the cytoplasm into the nucleus which is essential for the function of RAN in cargo receptor-mediated nucleocytoplasmic transport. Thereby, plays indirectly a more general role in cargo receptor-mediated nucleocytoplasmic transport. Interacts with GDP-bound RAN in the cytosol, recruits it to the nuclear pore complex via its interaction with nucleoporins and promotes its nuclear import. {ECO 0000269|PubMed 10679025, ECO 0000269|PubMed 7744965}. # GO_component GO:0005637 nuclear inner membrane; IEA:UniProtKB-SubCell. # GO_component GO:0005640 nuclear outer membrane; IEA:UniProtKB-SubCell. # GO_component GO:0005654 nucleoplasm; IDA:UniProtKB. # GO_component GO:0005829 cytosol; IDA:UniProtKB. # GO_component GO:0031965 nuclear membrane; ISS:UniProtKB. # GO_component GO:0044613 nuclear pore central transport channel; IEA:Ensembl. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0008320 protein transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0008536 Ran GTPase binding; IDA:UniProtKB. # GO_process GO:0000060 protein import into nucleus, translocation; IMP:UniProtKB. # GO_process GO:0006606 protein import into nucleus; IDA:UniProtKB. # GO_process GO:0006611 protein export from nucleus; IDA:BHF-UCL. # GO_process GO:0042307 positive regulation of protein import into nucleus; IEA:Ensembl. # GO_process GO:0051028 mRNA transport; IEA:UniProtKB-KW. # GO_process GO:0090204 protein localization to nuclear pore; ISS:UniProtKB. # GO_process GO:1904046 negative regulation of vascular endothelial growth factor production; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005654 nucleoplasm # GOslim_component GO:0005829 cytosol # GOslim_component GO:0043226 organelle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0008565 protein transporter activity # GOslim_function GO:0019899 enzyme binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0006913 nucleocytoplasmic transport # GOslim_process GO:0008150 biological_process # Gene3D 3.10.450.50 -; 1. # Genevisible P61970 HS # HGNC HGNC:13722 NUTF2 # INTERACTION NTF2_HUMAN P37198 NUP62; NbExp=5; IntAct=EBI-591778, EBI-347978; P62826 RAN; NbExp=4; IntAct=EBI-591778, EBI-286642; # IntAct P61970 9 # InterPro IPR002075 NTF2 # InterPro IPR018222 Nuclear_transport_factor_2_euk # InterPro IPR032710 NTF2-like_dom # MIM 605813 gene # Organism NTF2_HUMAN Homo sapiens (Human) # PDB 1GY5 X-ray; 2.30 A; A/B=1-127 # PIR S00751 S00751 # PROSITE PS50177 NTF2_DOMAIN # Pfam PF02136 NTF2 # Proteomes UP000005640 Chromosome 16 # RecName Nuclear transport factor 2 {ECO:0000303|PubMed 7744965} # RefSeq NP_001308967 NM_001322038.1 # RefSeq NP_001308968 NM_001322039.1 # RefSeq NP_001308969 NM_001322040.1 # RefSeq NP_001308970 NM_001322041.1 # RefSeq NP_005787 NM_005796.2 # SIMILARITY Contains 1 NTF2 domain. {ECO:0000255|PROSITE- ProRule PRU00137}. # SUBCELLULAR LOCATION NTF2_HUMAN Cytoplasm, cytosol {ECO 0000269|PubMed 10679025, ECO 0000269|PubMed 7744965}. Nucleus outer membrane {ECO 0000250|UniProtKB P61972}. Nucleus, nuclear pore complex {ECO 0000250|UniProtKB P61972}. Nucleus inner membrane {ECO 0000250|UniProtKB P61972}. Nucleus, nucleoplasm {ECO 0000269|PubMed 10679025}. Note=At steady state it is essentially nucleoplasmic, enriched in nucleoplasmic foci. {ECO 0000269|PubMed 10679025}. # SUBUNIT NTF2_HUMAN Homodimer (PubMed 7744965). Interacts with RAN (GDP-bound form); the interaction is direct and regulates RAN nuclear import (PubMed 10679025). Interacts with the nucleoporins NUP54, NUP58 and NUP62 (via FG repeats); recruits NUTF2 to the nuclear pore complex a step required for NUTF2-mediated GDP-bound RAN nuclear import (PubMed 7744965). Interacts with CAPG; mediates its nuclear import (PubMed 18266911). {ECO 0000269|PubMed 10679025, ECO 0000269|PubMed 18266911, ECO 0000269|PubMed 7744965}. # SUPFAM SSF54427 SSF54427 # UCSC uc002eup human # eggNOG ENOG4111QUX LUCA # eggNOG KOG2104 Eukaryota BLAST swissprot:NTF2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:NTF2_HUMAN BioCyc ZFISH:ENSG00000102898-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000102898-MONOMER COXPRESdb 10204 http://coxpresdb.jp/data/gene/10204.shtml CleanEx HS_NUTF2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_NUTF2 DIP DIP-6057N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-6057N DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1083/jcb.129.4.925 http://dx.doi.org/10.1083/jcb.129.4.925 DOI 10.1091/mbc.11.2.703 http://dx.doi.org/10.1091/mbc.11.2.703 DOI 10.1093/nar/16.10.4721 http://dx.doi.org/10.1093/nar/16.10.4721 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1600-0854.2008.00720.x http://dx.doi.org/10.1111/j.1600-0854.2008.00720.x DOI 10.1126/science.1175371 http://dx.doi.org/10.1126/science.1175371 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AK311822 http://www.ebi.ac.uk/ena/data/view/AK311822 EMBL BC002348 http://www.ebi.ac.uk/ena/data/view/BC002348 EMBL CH471092 http://www.ebi.ac.uk/ena/data/view/CH471092 EMBL CR456937 http://www.ebi.ac.uk/ena/data/view/CR456937 EMBL U43939 http://www.ebi.ac.uk/ena/data/view/U43939 EMBL X07315 http://www.ebi.ac.uk/ena/data/view/X07315 Ensembl ENST00000219169 http://www.ensembl.org/id/ENST00000219169 Ensembl ENST00000568396 http://www.ensembl.org/id/ENST00000568396 Ensembl ENST00000569436 http://www.ensembl.org/id/ENST00000569436 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005637 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005637 GO_component GO:0005640 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005640 GO_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0031965 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031965 GO_component GO:0044613 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044613 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0008320 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008320 GO_function GO:0008536 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008536 GO_process GO:0000060 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000060 GO_process GO:0006606 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006606 GO_process GO:0006611 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006611 GO_process GO:0042307 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042307 GO_process GO:0051028 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051028 GO_process GO:0090204 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090204 GO_process GO:1904046 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1904046 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_function GO:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006913 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006913 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 Gene3D 3.10.450.50 http://www.cathdb.info/version/latest/superfamily/3.10.450.50 GeneCards NUTF2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=NUTF2 GeneID 10204 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=10204 GeneTree ENSGT00510000047030 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00510000047030 HGNC HGNC:13722 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:13722 HOGENOM HOG000197024 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000197024&db=HOGENOM6 HOVERGEN HBG025070 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG025070&db=HOVERGEN HPA HPA040915 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA040915 HPA HPA040956 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA040956 InParanoid P61970 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P61970 IntAct P61970 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P61970* InterPro IPR002075 http://www.ebi.ac.uk/interpro/entry/IPR002075 InterPro IPR018222 http://www.ebi.ac.uk/interpro/entry/IPR018222 InterPro IPR032710 http://www.ebi.ac.uk/interpro/entry/IPR032710 Jabion 10204 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=10204 KEGG_Gene hsa:10204 http://www.genome.jp/dbget-bin/www_bget?hsa:10204 MIM 605813 http://www.ncbi.nlm.nih.gov/omim/605813 MINT MINT-5004387 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-5004387 OMA LSLHDCD http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=LSLHDCD OrthoDB EOG091G0SZN http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0SZN PDB 1GY5 http://www.ebi.ac.uk/pdbe-srv/view/entry/1GY5 PDBsum 1GY5 http://www.ebi.ac.uk/pdbsum/1GY5 PROSITE PS50177 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50177 PSORT swissprot:NTF2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:NTF2_HUMAN PSORT-B swissprot:NTF2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:NTF2_HUMAN PSORT2 swissprot:NTF2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:NTF2_HUMAN Pfam PF02136 http://pfam.xfam.org/family/PF02136 PharmGKB PA38365 http://www.pharmgkb.org/do/serve?objId=PA38365&objCls=Gene Phobius swissprot:NTF2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:NTF2_HUMAN PhylomeDB P61970 http://phylomedb.org/?seqid=P61970 ProteinModelPortal P61970 http://www.proteinmodelportal.org/query/uniprot/P61970 PubMed 10679025 http://www.ncbi.nlm.nih.gov/pubmed/10679025 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 18266911 http://www.ncbi.nlm.nih.gov/pubmed/18266911 PubMed 19608861 http://www.ncbi.nlm.nih.gov/pubmed/19608861 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 3380696 http://www.ncbi.nlm.nih.gov/pubmed/3380696 PubMed 7744965 http://www.ncbi.nlm.nih.gov/pubmed/7744965 RefSeq NP_001308967 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001308967 RefSeq NP_001308968 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001308968 RefSeq NP_001308969 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001308969 RefSeq NP_001308970 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001308970 RefSeq NP_005787 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_005787 SMR P61970 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P61970 STRING 9606.ENSP00000219169 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000219169&targetmode=cogs SUPFAM SSF54427 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF54427 UCSC uc002eup http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002eup&org=rat UniGene Hs.356630 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.356630 UniProtKB NTF2_HUMAN http://www.uniprot.org/uniprot/NTF2_HUMAN UniProtKB-AC P61970 http://www.uniprot.org/uniprot/P61970 charge swissprot:NTF2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:NTF2_HUMAN eggNOG ENOG4111QUX http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111QUX eggNOG KOG2104 http://eggnogapi.embl.de/nog_data/html/tree/KOG2104 epestfind swissprot:NTF2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:NTF2_HUMAN garnier swissprot:NTF2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:NTF2_HUMAN helixturnhelix swissprot:NTF2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:NTF2_HUMAN hmoment swissprot:NTF2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:NTF2_HUMAN iep swissprot:NTF2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:NTF2_HUMAN inforesidue swissprot:NTF2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:NTF2_HUMAN neXtProt NX_P61970 http://www.nextprot.org/db/entry/NX_P61970 octanol swissprot:NTF2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:NTF2_HUMAN pepcoil swissprot:NTF2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:NTF2_HUMAN pepdigest swissprot:NTF2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:NTF2_HUMAN pepinfo swissprot:NTF2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:NTF2_HUMAN pepnet swissprot:NTF2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:NTF2_HUMAN pepstats swissprot:NTF2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:NTF2_HUMAN pepwheel swissprot:NTF2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:NTF2_HUMAN pepwindow swissprot:NTF2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:NTF2_HUMAN sigcleave swissprot:NTF2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:NTF2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S6A20_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=XT3; IsoId=Q9NP91-1; Sequence=Displayed; Name=2; Synonyms=XT3a; IsoId=Q9NP91-2; Sequence=VSP_050002; # AltName S6A20_HUMAN Sodium/imino-acid transporter 1 # AltName S6A20_HUMAN Solute carrier family 6 member 20 # AltName S6A20_HUMAN Transporter rB21A homolog # BioGrid 120108 8 # CCDS CCDS2730 -. [Q9NP91-2] # CCDS CCDS43077 -. [Q9NP91-1] # ChiTaRS SLC6A20 human # DISEASE S6A20_HUMAN Hyperglycinuria (HG) [MIM 138500] A condition characterized by excess of glycine in the urine. In some cases it is associated with renal colic and renal oxalate stones. {ECO 0000269|PubMed 19033659}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE S6A20_HUMAN Iminoglycinuria (IG) [MIM 242600] A disorder of renal tubular reabsorption of glycine and imino acids (proline and hydroxyproline), marked by excessive levels of all three substances in the urine. {ECO 0000269|PubMed 19033659}. Note=The disease is caused by mutations affecting the gene represented in this entry. Haploinsufficiency of SLC6A20 combined with deficiency of the neutral amino acid transporter SLC6A19 or partially inactivating mutations in SLC36A2, is responsible for iminoglycinuria. Additional polymorphisms and mutations in SLC6A18 can contribute to the IG phenotype in some families. # Ensembl ENST00000353278 ENSP00000296133; ENSG00000163817. [Q9NP91-2] # Ensembl ENST00000358525 ENSP00000346298; ENSG00000163817. [Q9NP91-1] # ExpressionAtlas Q9NP91 baseline and differential # FUNCTION S6A20_HUMAN Mediates the calcium-dependent uptake of imino acids such as L-proline, N-methyl-L-proline and pipecolate as well as N- methylated amino acids. Involved in the transport of glycine. {ECO 0000269|PubMed 15632147, ECO 0000269|PubMed 19033659}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0016324 apical plasma membrane; ISS:UniProtKB. # GO_function GO:0015171 amino acid transmembrane transporter activity; IDA:UniProtKB. # GO_function S6A20_HUMAN GO 0005328 neurotransmitter sodium symporter activity; IEA InterPro. # GO_function S6A20_HUMAN GO 0015375 glycine sodium symporter activity; IBA GO_Central. # GO_process GO:0006865 amino acid transport; IDA:UniProtKB. # GO_process GO:0015816 glycine transport; IMP:UniProtKB. # GO_process GO:0015824 proline transport; IMP:UniProtKB. # GO_process GO:0036233 glycine import; IBA:GO_Central. # GO_process GO:0060012 synaptic transmission, glycinergic; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007267 cell-cell signaling # Genevisible Q9NP91 HS # HGNC HGNC:30927 SLC6A20 # INTERACTION S6A20_HUMAN Q6UY14-3 ADAMTSL4; NbExp=3; IntAct=EBI-10311198, EBI-10173507; P60370 KRTAP10-5; NbExp=3; IntAct=EBI-10311198, EBI-10172150; P60409 KRTAP10-7; NbExp=3; IntAct=EBI-10311198, EBI-10172290; P60410 KRTAP10-8; NbExp=5; IntAct=EBI-10311198, EBI-10171774; P60411 KRTAP10-9; NbExp=3; IntAct=EBI-10311198, EBI-10172052; Q7Z3S9 NOTCH2NL; NbExp=5; IntAct=EBI-10311198, EBI-945833; # IntAct Q9NP91 7 # InterPro IPR000175 Na/ntran_symport # InterPro IPR002438 Na/ntran_symport_orphan # KEGG_Brite ko02001 Solute carrier family # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00905 [Urinary system disease; Kidney disease; Inherited metabolic disease] Iminoglycinuria # KEGG_Disease H01304 [Kidney disease] Hyperglycinuria # MIM 138500 phenotype # MIM 242600 phenotype # MIM 605616 gene # Organism S6A20_HUMAN Homo sapiens (Human) # Orphanet 42062 Iminoglycinuria # PANTHER PTHR11616 PTHR11616; 2 # PRINTS PR00176 NANEUSMPORT # PRINTS PR01206 ORPHTRNSPORT # PROSITE PS00610 NA_NEUROTRAN_SYMP_1 # PROSITE PS00754 NA_NEUROTRAN_SYMP_2 # PROSITE PS50267 NA_NEUROTRAN_SYMP_3 # Pfam PF00209 SNF # Proteomes UP000005640 Chromosome 3 # Reactome R-HSA-352230 Amino acid transport across the plasma membrane # Reactome R-HSA-442660 Na+/Cl- dependent neurotransmitter transporters # RecName S6A20_HUMAN Sodium- and chloride-dependent transporter XTRP3 # RefSeq NP_064593 NM_020208.3. [Q9NP91-1] # RefSeq NP_071800 NM_022405.3. [Q9NP91-2] # SEQUENCE CAUTION Sequence=AAL75944.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A20 subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION S6A20_HUMAN Apical cell membrane {ECO 0000250}; Multi- pass membrane protein {ECO 0000250}. Note=Located in the apical brush border membrane of kidney proximal tubule cells. {ECO 0000250}. # TCDB 2.A.22.6:the neurotransmitter sodium symporter (nss) family # TISSUE SPECIFICITY S6A20_HUMAN Kidney and small intestine. Expressed in the S3 segment of the proximal tubule. {ECO 0000269|PubMed 19033659, ECO 0000269|PubMed 9932288}. # UCSC uc011bai human. [Q9NP91-1] # eggNOG COG0733 LUCA # eggNOG KOG3659 Eukaryota BLAST swissprot:S6A20_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S6A20_HUMAN BioCyc ZFISH:ENSG00000163817-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000163817-MONOMER COXPRESdb 54716 http://coxpresdb.jp/data/gene/54716.shtml CleanEx HS_SIT1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SIT1 CleanEx HS_SLC6A20 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC6A20 DOI 10.1006/geno.2000.6498 http://dx.doi.org/10.1006/geno.2000.6498 DOI 10.1074/jbc.M413027200 http://dx.doi.org/10.1074/jbc.M413027200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1172/JCI36625 http://dx.doi.org/10.1172/JCI36625 EMBL AF075260 http://www.ebi.ac.uk/ena/data/view/AF075260 EMBL AF125107 http://www.ebi.ac.uk/ena/data/view/AF125107 EMBL AJ276207 http://www.ebi.ac.uk/ena/data/view/AJ276207 EMBL AJ276208 http://www.ebi.ac.uk/ena/data/view/AJ276208 EMBL AJ289880 http://www.ebi.ac.uk/ena/data/view/AJ289880 EMBL AL389979 http://www.ebi.ac.uk/ena/data/view/AL389979 EMBL BC126197 http://www.ebi.ac.uk/ena/data/view/BC126197 EMBL BC136431 http://www.ebi.ac.uk/ena/data/view/BC136431 EMBL CH471055 http://www.ebi.ac.uk/ena/data/view/CH471055 Ensembl ENST00000353278 http://www.ensembl.org/id/ENST00000353278 Ensembl ENST00000358525 http://www.ensembl.org/id/ENST00000358525 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_function GO:0005328 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005328 GO_function GO:0015171 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015171 GO_function GO:0015375 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015375 GO_process GO:0006865 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006865 GO_process GO:0015816 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015816 GO_process GO:0015824 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015824 GO_process GO:0036233 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0036233 GO_process GO:0060012 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060012 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GeneCards SLC6A20 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC6A20 GeneID 54716 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=54716 GeneTree ENSGT00760000119044 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119044 HGNC HGNC:30927 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:30927 HOGENOM HOG000116406 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000116406&db=HOGENOM6 HOVERGEN HBG071421 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG071421&db=HOVERGEN HPA HPA029873 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA029873 InParanoid Q9NP91 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9NP91 IntAct Q9NP91 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9NP91* InterPro IPR000175 http://www.ebi.ac.uk/interpro/entry/IPR000175 InterPro IPR002438 http://www.ebi.ac.uk/interpro/entry/IPR002438 Jabion 54716 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=54716 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00905 http://www.genome.jp/dbget-bin/www_bget?H00905 KEGG_Disease H01304 http://www.genome.jp/dbget-bin/www_bget?H01304 KEGG_Gene hsa:54716 http://www.genome.jp/dbget-bin/www_bget?hsa:54716 KEGG_Orthology KO:K05048 http://www.genome.jp/dbget-bin/www_bget?KO:K05048 MIM 138500 http://www.ncbi.nlm.nih.gov/omim/138500 MIM 242600 http://www.ncbi.nlm.nih.gov/omim/242600 MIM 605616 http://www.ncbi.nlm.nih.gov/omim/605616 OMA LVCLVNC http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=LVCLVNC Orphanet 42062 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=42062 OrthoDB EOG091G08PX http://cegg.unige.ch/orthodb/results?searchtext=EOG091G08PX PANTHER PTHR11616 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11616 PRINTS PR00176 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00176 PRINTS PR01206 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01206 PROSITE PS00610 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00610 PROSITE PS00754 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00754 PROSITE PS50267 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50267 PSORT swissprot:S6A20_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S6A20_HUMAN PSORT-B swissprot:S6A20_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S6A20_HUMAN PSORT2 swissprot:S6A20_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S6A20_HUMAN Pfam PF00209 http://pfam.xfam.org/family/PF00209 PharmGKB PA134865308 http://www.pharmgkb.org/do/serve?objId=PA134865308&objCls=Gene Phobius swissprot:S6A20_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S6A20_HUMAN PhylomeDB Q9NP91 http://phylomedb.org/?seqid=Q9NP91 ProteinModelPortal Q9NP91 http://www.proteinmodelportal.org/query/uniprot/Q9NP91 PubMed 11352561 http://www.ncbi.nlm.nih.gov/pubmed/11352561 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15632147 http://www.ncbi.nlm.nih.gov/pubmed/15632147 PubMed 19033659 http://www.ncbi.nlm.nih.gov/pubmed/19033659 PubMed 9932288 http://www.ncbi.nlm.nih.gov/pubmed/9932288 Reactome R-HSA-352230 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-352230 Reactome R-HSA-442660 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-442660 RefSeq NP_064593 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_064593 RefSeq NP_071800 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_071800 STRING 9606.ENSP00000346298 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000346298&targetmode=cogs TCDB 2.A.22.6 http://www.tcdb.org/search/result.php?tc=2.A.22.6 UCSC uc011bai http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc011bai&org=rat UniGene Hs.413095 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.413095 UniProtKB S6A20_HUMAN http://www.uniprot.org/uniprot/S6A20_HUMAN UniProtKB-AC Q9NP91 http://www.uniprot.org/uniprot/Q9NP91 charge swissprot:S6A20_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S6A20_HUMAN eggNOG COG0733 http://eggnogapi.embl.de/nog_data/html/tree/COG0733 eggNOG KOG3659 http://eggnogapi.embl.de/nog_data/html/tree/KOG3659 epestfind swissprot:S6A20_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S6A20_HUMAN garnier swissprot:S6A20_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S6A20_HUMAN helixturnhelix swissprot:S6A20_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S6A20_HUMAN hmoment swissprot:S6A20_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S6A20_HUMAN iep swissprot:S6A20_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S6A20_HUMAN inforesidue swissprot:S6A20_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S6A20_HUMAN neXtProt NX_Q9NP91 http://www.nextprot.org/db/entry/NX_Q9NP91 octanol swissprot:S6A20_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S6A20_HUMAN pepcoil swissprot:S6A20_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S6A20_HUMAN pepdigest swissprot:S6A20_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S6A20_HUMAN pepinfo swissprot:S6A20_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S6A20_HUMAN pepnet swissprot:S6A20_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S6A20_HUMAN pepstats swissprot:S6A20_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S6A20_HUMAN pepwheel swissprot:S6A20_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S6A20_HUMAN pepwindow swissprot:S6A20_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S6A20_HUMAN sigcleave swissprot:S6A20_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S6A20_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS ITPR1_HUMAN Event=Alternative splicing; Named isoforms=8; Comment=There is a combination of three alternatively spliced domains at site SI, SIII and site SII (A and C). Experimental confirmation may be lacking for some isoforms.; Name=1; Synonyms=SISIIISIIAC; IsoId=Q14643-1; Sequence=Displayed; Name=2; Synonyms=SI-SIIISIIAC; IsoId=Q14643-2; Sequence=VSP_002687; Name=3; Synonyms=SISIII-SII; IsoId=Q14643-3; Sequence=VSP_002688, VSP_002689, VSP_002690; Name=4; Synonyms=SI-SIII-SII; IsoId=Q14643-4; Sequence=VSP_002687, VSP_002688, VSP_002689, VSP_002690; Name=5; Synonyms=SI-SIII-SIIAC; IsoId=Q14643-5; Sequence=VSP_002687, VSP_002688; Name=6; Synonyms=SISIIISIIA; IsoId=Q14643-6; Sequence=VSP_002690; Name=7; Synonyms=SI-SIII-SIIA; IsoId=Q14643-7; Sequence=VSP_002687, VSP_002690; Name=8; Synonyms=SI-SIII-SIIA; IsoId=Q14643-8; Sequence=VSP_002687, VSP_002688, VSP_002690; # AltName ITPR1_HUMAN IP3 receptor isoform 1 # AltName ITPR1_HUMAN Type 1 inositol 1,4,5-trisphosphate receptor # BioGrid 109913 48 # CAUTION Alternative splice sites (AA 1053-1054) represent a non- canonical GA-AG donor-acceptor pair, but are well-supported by all available human transcripts, and by homologous transcripts in mouse, rat and cow. {ECO 0000305}. # CCDS CCDS46740 -. [Q14643-3] # CCDS CCDS54550 -. [Q14643-4] # CCDS CCDS54551 -. [Q14643-2] # ChiTaRS ITPR1 human # DISEASE ITPR1_HUMAN Spinocerebellar ataxia 15 (SCA15) [MIM 606658] Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA15 is an autosomal dominant cerebellar ataxia (ADCA). It is very slow progressing form with a wide range of onset, ranging from childhood to adult. Most patients remain ambulatory. {ECO 0000269|PubMed 17590087, ECO 0000269|PubMed 18579805}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE ITPR1_HUMAN Spinocerebellar ataxia 29 (SCA29) [MIM 117360] An autosomal dominant, congenital spinocerebellar ataxia characterized by early motor delay, hypotonia and mild cognitive delay. Affected individuals develop a very slowly progressive or non-progressive gait and limb ataxia associated with cerebellar atrophy on brain imaging. Additional variable features include nystagmus, dysarthria, and tremor. {ECO 0000269|PubMed 22986007, ECO 0000269|PubMed 26770814}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DOMAIN ITPR1_HUMAN The receptor contains a calcium channel in its C-terminal extremity. Its large N-terminal cytoplasmic region has the ligand- binding site in the N-terminus and modulatory sites in the middle portion immediately upstream of the channel region. # DrugBank DB00201 Caffeine # Ensembl ENST00000302640 ENSP00000306253; ENSG00000150995. [Q14643-2] # Ensembl ENST00000354582 ENSP00000346595; ENSG00000150995. [Q14643-1] # Ensembl ENST00000357086 ENSP00000349597; ENSG00000150995. [Q14643-3] # Ensembl ENST00000443694 ENSP00000401671; ENSG00000150995. [Q14643-2] # Ensembl ENST00000456211 ENSP00000397885; ENSG00000150995. [Q14643-4] # ExpressionAtlas Q14643 baseline and differential # FUNCTION ITPR1_HUMAN Intracellular channel that mediates calcium release from the endoplasmic reticulum following stimulation by inositol 1,4,5- trisphosphate. Involved in the regulation of epithelial secretion of electrolytes and fluid through the interaction with AHCYL1 (By similarity). Plays a role in ER stress-induced apoptosis. Cytoplasmic calcium released from the ER triggers apoptosis by the activation of CaM kinase II, eventually leading to the activation of downstream apoptosis pathways (By similarity). {ECO 0000250|UniProtKB P11881}. # GO_component GO:0005637 nuclear inner membrane; IEA:Ensembl. # GO_component GO:0005730 nucleolus; IEA:Ensembl. # GO_component GO:0005783 endoplasmic reticulum; NAS:UniProtKB. # GO_component GO:0005789 endoplasmic reticulum membrane; IBA:GO_Central. # GO_component GO:0005886 plasma membrane; IBA:GO_Central. # GO_component GO:0005955 calcineurin complex; IEA:Ensembl. # GO_component GO:0014069 postsynaptic density; IEA:Ensembl. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0016529 sarcoplasmic reticulum; IBA:GO_Central. # GO_component GO:0031088 platelet dense granule membrane; IDA:BHF-UCL. # GO_component GO:0031094 platelet dense tubular network; IDA:BHF-UCL. # GO_component GO:0031095 platelet dense tubular network membrane; TAS:Reactome. # GO_component GO:0043234 protein complex; IEA:Ensembl. # GO_function GO:0005220 inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity; ISS:UniProtKB. # GO_function GO:0005509 calcium ion binding; IBA:GO_Central. # GO_function GO:0015085 calcium ion transmembrane transporter activity; TAS:ProtInc. # GO_function GO:0015278 calcium-release channel activity; ISS:UniProtKB. # GO_function GO:0019855 calcium channel inhibitor activity; IDA:GO_Central. # GO_function GO:0035091 phosphatidylinositol binding; ISS:UniProtKB. # GO_function GO:0070679 inositol 1,4,5 trisphosphate binding; IBA:GO_Central. # GO_process GO:0001666 response to hypoxia; IDA:BHF-UCL. # GO_process GO:0006816 calcium ion transport; NAS:UniProtKB. # GO_process GO:0007165 signal transduction; NAS:UniProtKB. # GO_process GO:0009791 post-embryonic development; IEA:Ensembl. # GO_process GO:0010506 regulation of autophagy; TAS:ParkinsonsUK-UCL. # GO_process GO:0030168 platelet activation; TAS:Reactome. # GO_process GO:0032469 endoplasmic reticulum calcium ion homeostasis; IEA:Ensembl. # GO_process GO:0042045 epithelial fluid transport; IEA:Ensembl. # GO_process GO:0050796 regulation of insulin secretion; TAS:Reactome. # GO_process GO:0050849 negative regulation of calcium-mediated signaling; IDA:GO_Central. # GO_process GO:0050882 voluntary musculoskeletal movement; IEA:Ensembl. # GO_process GO:0051209 release of sequestered calcium ion into cytosol; ISS:UniProtKB. # GO_process GO:0070059 intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress; ISS:UniProtKB. # GO_process GO:1903779 regulation of cardiac conduction; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005730 nucleolus # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0008289 lipid binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.25.10.30 -; 2. # Genevisible Q14643 HS # HGNC HGNC:6180 ITPR1 # INTERACTION ITPR1_HUMAN P21796 VDAC1; NbExp=3; IntAct=EBI-465548, EBI-354158; # IntAct Q14643 18 # InterPro IPR000493 InsP3_rcpt-bd # InterPro IPR000699 RIH_dom # InterPro IPR005821 Ion_trans_dom # InterPro IPR013662 RIH_assoc-dom # InterPro IPR014821 Ins145_P3_rcpt # InterPro IPR015925 Ryanodine_recept-rel # InterPro IPR016024 ARM-type_fold # InterPro IPR016093 MIR_motif # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02000 Transporters # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00063 [Neurodegenerative disease] Spinocerebellar ataxia (SCA) # KEGG_Pathway ko04020 Calcium signaling pathway # KEGG_Pathway ko04070 Phosphatidylinositol signaling system # KEGG_Pathway ko04114 Oocyte meiosis # KEGG_Pathway ko04270 Vascular smooth muscle contraction # KEGG_Pathway ko04540 Gap junction # KEGG_Pathway ko04713 Circadian entrainment # KEGG_Pathway ko04720 Long-term potentiation # KEGG_Pathway ko04723 Retrograde endocannabinoid signaling # KEGG_Pathway ko04724 Glutamatergic synapse # KEGG_Pathway ko04725 Cholinergic synapse # KEGG_Pathway ko04726 Serotonergic synapse # KEGG_Pathway ko04728 Dopaminergic synapse # KEGG_Pathway ko04730 Long-term depression # KEGG_Pathway ko04745 Phototransduction - fly # KEGG_Pathway ko04912 GnRH signaling pathway # KEGG_Pathway ko04970 Salivary secretion # KEGG_Pathway ko04971 Gastric acid secretion # KEGG_Pathway ko04972 Pancreatic secretion # KEGG_Pathway ko05010 Alzheimer's disease # KEGG_Pathway ko05016 Huntington's disease # MIM 117360 phenotype # MIM 147265 gene # MIM 606658 phenotype # MISCELLANEOUS ITPR1_HUMAN Calcium appears to inhibit ligand binding to the receptor, most probably by interacting with a distinct calcium- binding protein which then inhibits the receptor. # Organism ITPR1_HUMAN Homo sapiens (Human) # Orphanet 208513 Spinocerebellar ataxia type 29 # Orphanet 98769 Spinocerebellar ataxia type 15/16 # PANTHER PTHR13715 PTHR13715 # PIR A55713 A55713 # PIR S54974 S54974 # PRINTS PR00779 INSP3RECEPTR # PROSITE PS50919 MIR; 5 # PTM ITPR1_HUMAN Phosphorylated by cAMP kinase (PKA). Phosphorylation prevents the ligand-induced opening of the calcium channels. Phosphorylation by PKA increases the interaction with inositol 1,4,5-trisphosphate and decreases the interaction with AHCYL1. {ECO 0000250|UniProtKB P11881}. # PTM ITPR1_HUMAN Phosphorylated on tyrosine residues. {ECO 0000269|PubMed 7852357}. # PTM ITPR1_HUMAN Ubiquitination at multiple lysines targets ITPR1 for proteasomal degradation. Approximately 40% of the ITPR1-associated ubiquitin is monoubiquitin, and polyubiquitins are both 'Lys-48'- and 'Lys-63'-linked (By similarity). {ECO 0000250|UniProtKB P29994}. # Pfam PF00520 Ion_trans # Pfam PF01365 RYDR_ITPR; 2 # Pfam PF02815 MIR # Pfam PF08454 RIH_assoc # Pfam PF08709 Ins145_P3_rec # Proteomes UP000005640 Chromosome 3 # Reactome R-HSA-112043 PLC beta mediated events # Reactome R-HSA-114508 Effects of PIP2 hydrolysis # Reactome R-HSA-139853 Elevation of cytosolic Ca2+ levels # Reactome R-HSA-1489509 DAG and IP3 signaling # Reactome R-HSA-2029485 Role of phospholipids in phagocytosis # Reactome R-HSA-2871809 FCERI mediated Ca+2 mobilization # Reactome R-HSA-381676 Glucagon-like Peptide-1 (GLP1) regulates insulin secretion # Reactome R-HSA-4086398 Ca2+ pathway # Reactome R-HSA-418457 cGMP effects # Reactome R-HSA-422356 Regulation of insulin secretion # Reactome R-HSA-5218921 VEGFR2 mediated cell proliferation # Reactome R-HSA-5578775 Ion homeostasis # Reactome R-HSA-5607763 CLEC7A (Dectin-1) induces NFAT activation # Reactome R-HSA-983695 Antigen activates B Cell Receptor (BCR) leading to generation of second messengers # RecName ITPR1_HUMAN Inositol 1,4,5-trisphosphate receptor type 1 # RefSeq NP_001093422 NM_001099952.2. [Q14643-3] # RefSeq NP_002213 NM_002222.5. [Q14643-4] # RefSeq XP_011531985 XM_011533683.2. [Q14643-1] # SIMILARITY Belongs to the InsP3 receptor family. {ECO 0000305}. # SIMILARITY Contains 5 MIR domains. {ECO:0000255|PROSITE- ProRule PRU00131}. # SMART SM00472 MIR; 4 # SUBCELLULAR LOCATION ITPR1_HUMAN Endoplasmic reticulum membrane; Multi-pass membrane protein. # SUBUNIT ITPR1_HUMAN Homotetramer. Interacts with TRPC4. The PPXXF motif binds HOM1, HOM2 and HOM3. Interacts with RYR1, RYR2, ITPR1, SHANK1 and SHANK3. Interacts with ERP44 in a pH-, redox state- and calcium- dependent manner which results in the inhibition the calcium channel activity. The strength of this interaction inversely correlates with calcium concentration. Part of cGMP kinase signaling complex at least composed of ACTA2/alpha-actin, CNN1/calponin H1, PLN/phospholamban, PRKG1 and ITPR1. Interacts with MRVI1 and CABP1 (via N-terminus). Interacts with TESPA1. Interacts (when not phosphorylated) with AHCYL1 (when phosphorylated); the interaction suppresses inositol 1,4,5- trisphosphate binding to ITPR1 (PubMed 16793548). Interacts with AHCYL2 (with lower affinity than with AHCYL1) (PubMed 19220705). Interacts with BOK (via BH4 domain); protects ITPR1 from proteolysis by CASP3 during apoptosis (PubMed 23884412). {ECO 0000269|PubMed 12032348, ECO 0000269|PubMed 14685260, ECO 0000269|PubMed 15652484, ECO 0000269|PubMed 16793548, ECO 0000269|PubMed 16990611, ECO 0000269|PubMed 19220705, ECO 0000269|PubMed 23650607, ECO 0000269|PubMed 23884412}. # SUPFAM SSF100909 SSF100909; 2 # SUPFAM SSF48371 SSF48371; 4 # SUPFAM SSF82109 SSF82109; 2 # TCDB 1.A.3.2 the ryanodine-inositol 1,4,5-triphosphate receptor ca(2+) channel (rir-cac) family # TISSUE SPECIFICITY ITPR1_HUMAN Widely expressed. # UCSC uc003bqc human. [Q14643-1] # eggNOG ENOG410XR97 LUCA # eggNOG KOG3533 Eukaryota BLAST swissprot:ITPR1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ITPR1_HUMAN BioCyc ZFISH:ENSG00000150995-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000150995-MONOMER COXPRESdb 3708 http://coxpresdb.jp/data/gene/3708.shtml CleanEx HS_ITPR1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ITPR1 DIP DIP-29714N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-29714N DOI 10.1016/0169-328X(95)00089-B http://dx.doi.org/10.1016/0169-328X(95)00089-B DOI 10.1016/j.cell.2004.11.048 http://dx.doi.org/10.1016/j.cell.2004.11.048 DOI 10.1016/j.cell.2006.09.026 http://dx.doi.org/10.1016/j.cell.2006.09.026 DOI 10.1016/j.fob.2012.08.005 http://dx.doi.org/10.1016/j.fob.2012.08.005 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1016/j.molcel.2006.05.017 http://dx.doi.org/10.1016/j.molcel.2006.05.017 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1021/pr8008012 http://dx.doi.org/10.1021/pr8008012 DOI 10.1038/nature04728 http://dx.doi.org/10.1038/nature04728 DOI 10.1038/sj.emboj.7600037 http://dx.doi.org/10.1038/sj.emboj.7600037 DOI 10.1042/bj3020781 http://dx.doi.org/10.1042/bj3020781 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1073/pnas.102006299 http://dx.doi.org/10.1073/pnas.102006299 DOI 10.1074/jbc.270.6.2833 http://dx.doi.org/10.1074/jbc.270.6.2833 DOI 10.1074/jbc.M113.496570 http://dx.doi.org/10.1074/jbc.M113.496570 DOI 10.1080/095530096145544 http://dx.doi.org/10.1080/095530096145544 DOI 10.1111/j.1471-4159.2009.05979.x http://dx.doi.org/10.1111/j.1471-4159.2009.05979.x DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 DOI 10.1182/blood-2005-10-026294 http://dx.doi.org/10.1182/blood-2005-10-026294 DOI 10.1186/1750-1172-7-67 http://dx.doi.org/10.1186/1750-1172-7-67 DOI 10.1186/s40673-016-0040-8 http://dx.doi.org/10.1186/s40673-016-0040-8 DOI 10.1212/01.wnl.0000311277.71046.a0 http://dx.doi.org/10.1212/01.wnl.0000311277.71046.a0 DOI 10.1371/journal.pgen.0030108 http://dx.doi.org/10.1371/journal.pgen.0030108 DrugBank DB00201 http://www.drugbank.ca/drugs/DB00201 EMBL AC018816 http://www.ebi.ac.uk/ena/data/view/AC018816 EMBL AC024168 http://www.ebi.ac.uk/ena/data/view/AC024168 EMBL AC069248 http://www.ebi.ac.uk/ena/data/view/AC069248 EMBL AC090944 http://www.ebi.ac.uk/ena/data/view/AC090944 EMBL D26070 http://www.ebi.ac.uk/ena/data/view/D26070 EMBL L38019 http://www.ebi.ac.uk/ena/data/view/L38019 EMBL S82269 http://www.ebi.ac.uk/ena/data/view/S82269 EMBL U23850 http://www.ebi.ac.uk/ena/data/view/U23850 Ensembl ENST00000302640 http://www.ensembl.org/id/ENST00000302640 Ensembl ENST00000354582 http://www.ensembl.org/id/ENST00000354582 Ensembl ENST00000357086 http://www.ensembl.org/id/ENST00000357086 Ensembl ENST00000443694 http://www.ensembl.org/id/ENST00000443694 Ensembl ENST00000456211 http://www.ensembl.org/id/ENST00000456211 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005637 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005637 GO_component GO:0005730 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005730 GO_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GO_component GO:0005789 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005789 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005955 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005955 GO_component GO:0014069 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014069 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0016529 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016529 GO_component GO:0031088 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031088 GO_component GO:0031094 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031094 GO_component GO:0031095 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031095 GO_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GO_function GO:0005220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005220 GO_function GO:0005509 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005509 GO_function GO:0015085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015085 GO_function GO:0015278 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015278 GO_function GO:0019855 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019855 GO_function GO:0035091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035091 GO_function GO:0070679 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070679 GO_process GO:0001666 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001666 GO_process GO:0006816 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006816 GO_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GO_process GO:0009791 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009791 GO_process GO:0010506 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010506 GO_process GO:0030168 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030168 GO_process GO:0032469 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032469 GO_process GO:0042045 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042045 GO_process GO:0050796 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050796 GO_process GO:0050849 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050849 GO_process GO:0050882 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050882 GO_process GO:0051209 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051209 GO_process GO:0070059 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070059 GO_process GO:1903779 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903779 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005730 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005730 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0008289 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008289 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.25.10.30 http://www.cathdb.info/version/latest/superfamily/1.25.10.30 GeneCards ITPR1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ITPR1 GeneID 3708 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=3708 GeneTree ENSGT00760000119152 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119152 HGNC HGNC:6180 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6180 HOGENOM HOG000007660 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000007660&db=HOGENOM6 HOVERGEN HBG052158 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052158&db=HOVERGEN HPA HPA014765 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA014765 HPA HPA016487 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA016487 InParanoid Q14643 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q14643 IntAct Q14643 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q14643* InterPro IPR000493 http://www.ebi.ac.uk/interpro/entry/IPR000493 InterPro IPR000699 http://www.ebi.ac.uk/interpro/entry/IPR000699 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR013662 http://www.ebi.ac.uk/interpro/entry/IPR013662 InterPro IPR014821 http://www.ebi.ac.uk/interpro/entry/IPR014821 InterPro IPR015925 http://www.ebi.ac.uk/interpro/entry/IPR015925 InterPro IPR016024 http://www.ebi.ac.uk/interpro/entry/IPR016024 InterPro IPR016093 http://www.ebi.ac.uk/interpro/entry/IPR016093 Jabion 3708 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=3708 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00063 http://www.genome.jp/dbget-bin/www_bget?H00063 KEGG_Gene hsa:3708 http://www.genome.jp/dbget-bin/www_bget?hsa:3708 KEGG_Orthology KO:K04958 http://www.genome.jp/dbget-bin/www_bget?KO:K04958 KEGG_Pathway ko04020 http://www.genome.jp/kegg-bin/show_pathway?ko04020 KEGG_Pathway ko04070 http://www.genome.jp/kegg-bin/show_pathway?ko04070 KEGG_Pathway ko04114 http://www.genome.jp/kegg-bin/show_pathway?ko04114 KEGG_Pathway ko04270 http://www.genome.jp/kegg-bin/show_pathway?ko04270 KEGG_Pathway ko04540 http://www.genome.jp/kegg-bin/show_pathway?ko04540 KEGG_Pathway ko04713 http://www.genome.jp/kegg-bin/show_pathway?ko04713 KEGG_Pathway ko04720 http://www.genome.jp/kegg-bin/show_pathway?ko04720 KEGG_Pathway ko04723 http://www.genome.jp/kegg-bin/show_pathway?ko04723 KEGG_Pathway ko04724 http://www.genome.jp/kegg-bin/show_pathway?ko04724 KEGG_Pathway ko04725 http://www.genome.jp/kegg-bin/show_pathway?ko04725 KEGG_Pathway ko04726 http://www.genome.jp/kegg-bin/show_pathway?ko04726 KEGG_Pathway ko04728 http://www.genome.jp/kegg-bin/show_pathway?ko04728 KEGG_Pathway ko04730 http://www.genome.jp/kegg-bin/show_pathway?ko04730 KEGG_Pathway ko04745 http://www.genome.jp/kegg-bin/show_pathway?ko04745 KEGG_Pathway ko04912 http://www.genome.jp/kegg-bin/show_pathway?ko04912 KEGG_Pathway ko04970 http://www.genome.jp/kegg-bin/show_pathway?ko04970 KEGG_Pathway ko04971 http://www.genome.jp/kegg-bin/show_pathway?ko04971 KEGG_Pathway ko04972 http://www.genome.jp/kegg-bin/show_pathway?ko04972 KEGG_Pathway ko05010 http://www.genome.jp/kegg-bin/show_pathway?ko05010 KEGG_Pathway ko05016 http://www.genome.jp/kegg-bin/show_pathway?ko05016 MIM 117360 http://www.ncbi.nlm.nih.gov/omim/117360 MIM 147265 http://www.ncbi.nlm.nih.gov/omim/147265 MIM 606658 http://www.ncbi.nlm.nih.gov/omim/606658 MINT MINT-4991320 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-4991320 OMA DPDDHYQ http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=DPDDHYQ Orphanet 208513 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=208513 Orphanet 98769 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=98769 OrthoDB EOG091G00T2 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G00T2 PANTHER PTHR13715 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR13715 PRINTS PR00779 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00779 PROSITE PS50919 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50919 PSORT swissprot:ITPR1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ITPR1_HUMAN PSORT-B swissprot:ITPR1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ITPR1_HUMAN PSORT2 swissprot:ITPR1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ITPR1_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF01365 http://pfam.xfam.org/family/PF01365 Pfam PF02815 http://pfam.xfam.org/family/PF02815 Pfam PF08454 http://pfam.xfam.org/family/PF08454 Pfam PF08709 http://pfam.xfam.org/family/PF08709 PharmGKB PA29978 http://www.pharmgkb.org/do/serve?objId=PA29978&objCls=Gene Phobius swissprot:ITPR1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ITPR1_HUMAN PhylomeDB Q14643 http://phylomedb.org/?seqid=Q14643 ProteinModelPortal Q14643 http://www.proteinmodelportal.org/query/uniprot/Q14643 PubMed 12032348 http://www.ncbi.nlm.nih.gov/pubmed/12032348 PubMed 14685260 http://www.ncbi.nlm.nih.gov/pubmed/14685260 PubMed 15652484 http://www.ncbi.nlm.nih.gov/pubmed/15652484 PubMed 16641997 http://www.ncbi.nlm.nih.gov/pubmed/16641997 PubMed 16793548 http://www.ncbi.nlm.nih.gov/pubmed/16793548 PubMed 16990611 http://www.ncbi.nlm.nih.gov/pubmed/16990611 PubMed 17081983 http://www.ncbi.nlm.nih.gov/pubmed/17081983 PubMed 17590087 http://www.ncbi.nlm.nih.gov/pubmed/17590087 PubMed 18579805 http://www.ncbi.nlm.nih.gov/pubmed/18579805 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 19159218 http://www.ncbi.nlm.nih.gov/pubmed/19159218 PubMed 19220705 http://www.ncbi.nlm.nih.gov/pubmed/19220705 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 22986007 http://www.ncbi.nlm.nih.gov/pubmed/22986007 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 23650607 http://www.ncbi.nlm.nih.gov/pubmed/23650607 PubMed 23884412 http://www.ncbi.nlm.nih.gov/pubmed/23884412 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 26770814 http://www.ncbi.nlm.nih.gov/pubmed/26770814 PubMed 7500840 http://www.ncbi.nlm.nih.gov/pubmed/7500840 PubMed 7852357 http://www.ncbi.nlm.nih.gov/pubmed/7852357 PubMed 7945203 http://www.ncbi.nlm.nih.gov/pubmed/7945203 PubMed 8648241 http://www.ncbi.nlm.nih.gov/pubmed/8648241 Reactome R-HSA-112043 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-112043 Reactome R-HSA-114508 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-114508 Reactome R-HSA-139853 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-139853 Reactome R-HSA-1489509 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1489509 Reactome R-HSA-2029485 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2029485 Reactome R-HSA-2871809 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2871809 Reactome R-HSA-381676 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-381676 Reactome R-HSA-4086398 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-4086398 Reactome R-HSA-418457 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-418457 Reactome R-HSA-422356 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-422356 Reactome R-HSA-5218921 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5218921 Reactome R-HSA-5578775 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5578775 Reactome R-HSA-5607763 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5607763 Reactome R-HSA-983695 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-983695 RefSeq NP_001093422 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001093422 RefSeq NP_002213 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_002213 RefSeq XP_011531985 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011531985 SMART SM00472 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00472 STRING 9606.ENSP00000306253 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000306253&targetmode=cogs SUPFAM SSF100909 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF100909 SUPFAM SSF48371 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48371 SUPFAM SSF82109 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF82109 TCDB 1.A.3.2 http://www.tcdb.org/search/result.php?tc=1.A.3.2 UCSC uc003bqc http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003bqc&org=rat UniGene Hs.567295 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.567295 UniGene Hs.715765 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.715765 UniProtKB ITPR1_HUMAN http://www.uniprot.org/uniprot/ITPR1_HUMAN UniProtKB-AC Q14643 http://www.uniprot.org/uniprot/Q14643 charge swissprot:ITPR1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ITPR1_HUMAN eggNOG ENOG410XR97 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XR97 eggNOG KOG3533 http://eggnogapi.embl.de/nog_data/html/tree/KOG3533 epestfind swissprot:ITPR1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ITPR1_HUMAN garnier swissprot:ITPR1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ITPR1_HUMAN helixturnhelix swissprot:ITPR1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ITPR1_HUMAN hmoment swissprot:ITPR1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ITPR1_HUMAN iep swissprot:ITPR1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ITPR1_HUMAN inforesidue swissprot:ITPR1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ITPR1_HUMAN neXtProt NX_Q14643 http://www.nextprot.org/db/entry/NX_Q14643 octanol swissprot:ITPR1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ITPR1_HUMAN pepcoil swissprot:ITPR1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ITPR1_HUMAN pepdigest swissprot:ITPR1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ITPR1_HUMAN pepinfo swissprot:ITPR1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ITPR1_HUMAN pepnet swissprot:ITPR1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ITPR1_HUMAN pepstats swissprot:ITPR1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ITPR1_HUMAN pepwheel swissprot:ITPR1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ITPR1_HUMAN pepwindow swissprot:ITPR1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ITPR1_HUMAN sigcleave swissprot:ITPR1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ITPR1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS ACHA3_HUMAN Event=Alternative splicing; Named isoforms=3; Name=2; IsoId=P32297-2; Sequence=Displayed; Name=1; IsoId=P32297-1; Sequence=VSP_037750; Name=3; IsoId=P32297-3; Sequence=VSP_037751; # BioGrid 107558 28 # CCDS CCDS10305 -. [P32297-2] # CCDS CCDS53964 -. [P32297-3] # ChiTaRS CHRNA3 human # DrugBank DB00184 Nicotine # DrugBank DB00514 Dextromethorphan # DrugBank DB00674 Galantamine # DrugBank DB00898 Ethanol # DrugBank DB01090 Pentolinium # DrugBank DB01156 Bupropion # DrugBank DB01227 Levomethadyl Acetate # DrugBank DB01273 Varenicline # DrugBank DB09028 Cytisine # Ensembl ENST00000326828 ENSP00000315602; ENSG00000080644. [P32297-2] # Ensembl ENST00000348639 ENSP00000267951; ENSG00000080644. [P32297-3] # Ensembl ENST00000559658 ENSP00000452896; ENSG00000080644. [P32297-2] # ExpressionAtlas P32297 baseline and differential # FUNCTION ACHA3_HUMAN After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005892 acetylcholine-gated channel complex; IDA:UniProtKB. # GO_component GO:0014069 postsynaptic density; ISS:UniProtKB. # GO_component GO:0016021 integral component of membrane; NAS:UniProtKB. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0030425 dendrite; ISS:UniProtKB. # GO_component GO:0043025 neuronal cell body; ISS:UniProtKB. # GO_component GO:0045211 postsynaptic membrane; IEA:UniProtKB-SubCell. # GO_function GO:0004889 acetylcholine-activated cation-selective channel activity; IDA:UniProtKB. # GO_function GO:0015276 ligand-gated ion channel activity; TAS:DFLAT. # GO_function GO:0015464 acetylcholine receptor activity; IDA:UniProtKB. # GO_function GO:0042166 acetylcholine binding; IC:UniProtKB. # GO_process GO:0006811 ion transport; NAS:UniProtKB. # GO_process GO:0006940 regulation of smooth muscle contraction; ISS:UniProtKB. # GO_process GO:0007165 signal transduction; IDA:UniProtKB. # GO_process GO:0007171 activation of transmembrane receptor protein tyrosine kinase activity; ISS:UniProtKB. # GO_process GO:0007271 synaptic transmission, cholinergic; ISS:UniProtKB. # GO_process GO:0007399 nervous system development; IMP:UniProtKB. # GO_process GO:0007626 locomotory behavior; ISS:UniProtKB. # GO_process GO:0014056 regulation of acetylcholine secretion, neurotransmission; ISS:UniProtKB. # GO_process GO:0035095 behavioral response to nicotine; IMP:UniProtKB. # GO_process GO:0042391 regulation of membrane potential; ISS:UniProtKB. # GO_process GO:0048814 regulation of dendrite morphogenesis; ISS:UniProtKB. # GO_process GO:0060079 excitatory postsynaptic potential; ISS:UniProtKB. # GO_process GO:0060084 synaptic transmission involved in micturition; IMP:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # GOslim_process GO:0048856 anatomical structure development # Gene3D 1.20.120.370 -; 2. # Gene3D 2.70.170.10 -; 1. # Genevisible P32297 HS # HGNC HGNC:1957 CHRNA3 # IntAct P32297 2 # InterPro IPR002394 Nicotinic_acetylcholine_rcpt # InterPro IPR006029 Neurotrans-gated_channel_TM # InterPro IPR006201 Neur_channel # InterPro IPR006202 Neur_chan_lig-bd # InterPro IPR018000 Neurotransmitter_ion_chnl_CS # InterPro IPR027361 Acetylcholine_rcpt_TM # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04080 Neuroactive ligand-receptor interaction # KEGG_Pathway ko04725 Cholinergic synapse # MIM 118503 gene # MIM 612052 phenotype # Organism ACHA3_HUMAN Homo sapiens (Human) # PANTHER PTHR18945 PTHR18945; 2 # PDB 4ZK4 X-ray; 1.90 A; A/B/C/D/E=215-230 # PDB 5SYO X-ray; 2.00 A; A/B/C/D/E=215-230 # PIR A37040 A37040 # PIR A53956 A53956 # POLYMORPHISM Genetic variations in CHRNA3 have been associated with susceptibility to smoking-related behavioral traits and lung cancer, contributing to the smoking quantitative trait locus 3 (SQTL3) [MIM 612052]. # PRINTS PR00252 NRIONCHANNEL # PRINTS PR00254 NICOTINICR # PROSITE PS00236 NEUROTR_ION_CHANNEL # Pfam PF02931 Neur_chan_LBD # Pfam PF02932 Neur_chan_memb # Proteomes UP000005640 Chromosome 15 # Reactome R-HSA-629587 Highly sodium permeable acetylcholine nicotinic receptors # Reactome R-HSA-629594 Highly calcium permeable postsynaptic nicotinic acetylcholine receptors # Reactome R-HSA-629597 Highly calcium permeable nicotinic acetylcholine receptors # RecName ACHA3_HUMAN Neuronal acetylcholine receptor subunit alpha-3 # RefSeq NP_000734 NM_000743.4. [P32297-2] # RefSeq NP_001160166 NM_001166694.1. [P32297-3] # SIMILARITY Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Alpha- 3/CHRNA3 sub-subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION ACHA3_HUMAN Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. # SUBUNIT Neuronal AChR is composed of two different types of subunits: alpha and beta. Alpha-3 subunit can be combined to beta- 2 or beta-4 to give rise to functional receptors. Interacts with RIC3; which is required for proper folding and assembly. {ECO 0000269|PubMed:16120769}. # SUPFAM SSF63712 SSF63712 # SUPFAM SSF90112 SSF90112 # TIGRFAMs TIGR00860 LIC # UCSC uc002beb human. [P32297-2] # eggNOG ENOG410XQGR LUCA # eggNOG KOG3645 Eukaryota BLAST swissprot:ACHA3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ACHA3_HUMAN BioCyc ZFISH:ENSG00000080644-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000080644-MONOMER COXPRESdb 1136 http://coxpresdb.jp/data/gene/1136.shtml CleanEx HS_CHRNA3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CHRNA3 DOI 10.1007/BF02736842 http://dx.doi.org/10.1007/BF02736842 DOI 10.1007/s004390050885 http://dx.doi.org/10.1007/s004390050885 DOI 10.1007/s100380170054 http://dx.doi.org/10.1007/s100380170054 DOI 10.1016/0014-4886(91)90004-V http://dx.doi.org/10.1016/0014-4886(91)90004-V DOI 10.1016/0304-3940(90)90287-J http://dx.doi.org/10.1016/0304-3940(90)90287-J DOI 10.1016/S0014-5793(96)01383-X http://dx.doi.org/10.1016/S0014-5793(96)01383-X DOI 10.1038/452537a http://dx.doi.org/10.1038/452537a DOI 10.1038/nature04601 http://dx.doi.org/10.1038/nature04601 DOI 10.1038/nature06846 http://dx.doi.org/10.1038/nature06846 DOI 10.1038/nature06885 http://dx.doi.org/10.1038/nature06885 DOI 10.1038/ng.109 http://dx.doi.org/10.1038/ng.109 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1124/mol.105.017459 http://dx.doi.org/10.1124/mol.105.017459 DrugBank DB00184 http://www.drugbank.ca/drugs/DB00184 DrugBank DB00514 http://www.drugbank.ca/drugs/DB00514 DrugBank DB00674 http://www.drugbank.ca/drugs/DB00674 DrugBank DB00898 http://www.drugbank.ca/drugs/DB00898 DrugBank DB01090 http://www.drugbank.ca/drugs/DB01090 DrugBank DB01156 http://www.drugbank.ca/drugs/DB01156 DrugBank DB01227 http://www.drugbank.ca/drugs/DB01227 DrugBank DB01273 http://www.drugbank.ca/drugs/DB01273 DrugBank DB09028 http://www.drugbank.ca/drugs/DB09028 EMBL AC027228 http://www.ebi.ac.uk/ena/data/view/AC027228 EMBL AC067863 http://www.ebi.ac.uk/ena/data/view/AC067863 EMBL AF385584 http://www.ebi.ac.uk/ena/data/view/AF385584 EMBL AJ007783 http://www.ebi.ac.uk/ena/data/view/AJ007783 EMBL AJ007784 http://www.ebi.ac.uk/ena/data/view/AJ007784 EMBL AJ007785 http://www.ebi.ac.uk/ena/data/view/AJ007785 EMBL AJ007786 http://www.ebi.ac.uk/ena/data/view/AJ007786 EMBL AJ007787 http://www.ebi.ac.uk/ena/data/view/AJ007787 EMBL BC000513 http://www.ebi.ac.uk/ena/data/view/BC000513 EMBL BC001642 http://www.ebi.ac.uk/ena/data/view/BC001642 EMBL BC002996 http://www.ebi.ac.uk/ena/data/view/BC002996 EMBL BC006114 http://www.ebi.ac.uk/ena/data/view/BC006114 EMBL BC098443 http://www.ebi.ac.uk/ena/data/view/BC098443 EMBL BT006646 http://www.ebi.ac.uk/ena/data/view/BT006646 EMBL BT006897 http://www.ebi.ac.uk/ena/data/view/BT006897 EMBL M37981 http://www.ebi.ac.uk/ena/data/view/M37981 EMBL M86383 http://www.ebi.ac.uk/ena/data/view/M86383 EMBL U62432 http://www.ebi.ac.uk/ena/data/view/U62432 EMBL X53559 http://www.ebi.ac.uk/ena/data/view/X53559 EMBL Y08418 http://www.ebi.ac.uk/ena/data/view/Y08418 Ensembl ENST00000326828 http://www.ensembl.org/id/ENST00000326828 Ensembl ENST00000348639 http://www.ensembl.org/id/ENST00000348639 Ensembl ENST00000559658 http://www.ensembl.org/id/ENST00000559658 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005892 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005892 GO_component GO:0014069 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014069 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0030425 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030425 GO_component GO:0043025 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043025 GO_component GO:0045211 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045211 GO_function GO:0004889 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004889 GO_function GO:0015276 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015276 GO_function GO:0015464 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015464 GO_function GO:0042166 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042166 GO_process GO:0006811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006811 GO_process GO:0006940 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006940 GO_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GO_process GO:0007171 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007171 GO_process GO:0007271 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007271 GO_process GO:0007399 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007399 GO_process GO:0007626 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007626 GO_process GO:0014056 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014056 GO_process GO:0035095 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035095 GO_process GO:0042391 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042391 GO_process GO:0048814 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048814 GO_process GO:0060079 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060079 GO_process GO:0060084 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060084 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 Gene3D 1.20.120.370 http://www.cathdb.info/version/latest/superfamily/1.20.120.370 Gene3D 2.70.170.10 http://www.cathdb.info/version/latest/superfamily/2.70.170.10 GeneCards CHRNA3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CHRNA3 GeneID 1136 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=1136 GeneTree ENSGT00760000118930 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118930 H-InvDB HIX0017542 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0017542 HGNC HGNC:1957 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:1957 HOVERGEN HBG003756 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG003756&db=HOVERGEN HPA HPA029430 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA029430 InParanoid P32297 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P32297 IntAct P32297 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P32297* InterPro IPR002394 http://www.ebi.ac.uk/interpro/entry/IPR002394 InterPro IPR006029 http://www.ebi.ac.uk/interpro/entry/IPR006029 InterPro IPR006201 http://www.ebi.ac.uk/interpro/entry/IPR006201 InterPro IPR006202 http://www.ebi.ac.uk/interpro/entry/IPR006202 InterPro IPR018000 http://www.ebi.ac.uk/interpro/entry/IPR018000 InterPro IPR027361 http://www.ebi.ac.uk/interpro/entry/IPR027361 Jabion 1136 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=1136 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:1136 http://www.genome.jp/dbget-bin/www_bget?hsa:1136 KEGG_Orthology KO:K04805 http://www.genome.jp/dbget-bin/www_bget?KO:K04805 KEGG_Pathway ko04080 http://www.genome.jp/kegg-bin/show_pathway?ko04080 KEGG_Pathway ko04725 http://www.genome.jp/kegg-bin/show_pathway?ko04725 MIM 118503 http://www.ncbi.nlm.nih.gov/omim/118503 MIM 612052 http://www.ncbi.nlm.nih.gov/omim/612052 OMA NEGNAQK http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=NEGNAQK OrthoDB EOG091G0R20 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0R20 PANTHER PTHR18945 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR18945 PDB 4ZK4 http://www.ebi.ac.uk/pdbe-srv/view/entry/4ZK4 PDB 5SYO http://www.ebi.ac.uk/pdbe-srv/view/entry/5SYO PDBsum 4ZK4 http://www.ebi.ac.uk/pdbsum/4ZK4 PDBsum 5SYO http://www.ebi.ac.uk/pdbsum/5SYO PRINTS PR00252 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00252 PRINTS PR00254 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00254 PROSITE PS00236 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00236 PSORT swissprot:ACHA3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ACHA3_HUMAN PSORT-B swissprot:ACHA3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ACHA3_HUMAN PSORT2 swissprot:ACHA3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ACHA3_HUMAN Pfam PF02931 http://pfam.xfam.org/family/PF02931 Pfam PF02932 http://pfam.xfam.org/family/PF02932 PharmGKB PA113 http://www.pharmgkb.org/do/serve?objId=PA113&objCls=Gene Phobius swissprot:ACHA3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ACHA3_HUMAN PhylomeDB P32297 http://phylomedb.org/?seqid=P32297 ProteinModelPortal P32297 http://www.proteinmodelportal.org/query/uniprot/P32297 PubMed 11450844 http://www.ncbi.nlm.nih.gov/pubmed/11450844 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16120769 http://www.ncbi.nlm.nih.gov/pubmed/16120769 PubMed 16572171 http://www.ncbi.nlm.nih.gov/pubmed/16572171 PubMed 18385676 http://www.ncbi.nlm.nih.gov/pubmed/18385676 PubMed 18385720 http://www.ncbi.nlm.nih.gov/pubmed/18385720 PubMed 18385738 http://www.ncbi.nlm.nih.gov/pubmed/18385738 PubMed 18385739 http://www.ncbi.nlm.nih.gov/pubmed/18385739 PubMed 1989896 http://www.ncbi.nlm.nih.gov/pubmed/1989896 PubMed 2336208 http://www.ncbi.nlm.nih.gov/pubmed/2336208 PubMed 8906617 http://www.ncbi.nlm.nih.gov/pubmed/8906617 PubMed 9009220 http://www.ncbi.nlm.nih.gov/pubmed/9009220 PubMed 9921897 http://www.ncbi.nlm.nih.gov/pubmed/9921897 Reactome R-HSA-629587 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-629587 Reactome R-HSA-629594 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-629594 Reactome R-HSA-629597 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-629597 RefSeq NP_000734 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000734 RefSeq NP_001160166 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001160166 SMR P32297 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P32297 STRING 9606.ENSP00000315602 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000315602&targetmode=cogs SUPFAM SSF63712 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF63712 SUPFAM SSF90112 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF90112 TIGRFAMs TIGR00860 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00860 UCSC uc002beb http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002beb&org=rat UniGene Hs.89605 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.89605 UniProtKB ACHA3_HUMAN http://www.uniprot.org/uniprot/ACHA3_HUMAN UniProtKB-AC P32297 http://www.uniprot.org/uniprot/P32297 charge swissprot:ACHA3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ACHA3_HUMAN eggNOG ENOG410XQGR http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XQGR eggNOG KOG3645 http://eggnogapi.embl.de/nog_data/html/tree/KOG3645 epestfind swissprot:ACHA3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ACHA3_HUMAN garnier swissprot:ACHA3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ACHA3_HUMAN helixturnhelix swissprot:ACHA3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ACHA3_HUMAN hmoment swissprot:ACHA3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ACHA3_HUMAN iep swissprot:ACHA3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ACHA3_HUMAN inforesidue swissprot:ACHA3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ACHA3_HUMAN neXtProt NX_P32297 http://www.nextprot.org/db/entry/NX_P32297 octanol swissprot:ACHA3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ACHA3_HUMAN pepcoil swissprot:ACHA3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ACHA3_HUMAN pepdigest swissprot:ACHA3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ACHA3_HUMAN pepinfo swissprot:ACHA3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ACHA3_HUMAN pepnet swissprot:ACHA3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ACHA3_HUMAN pepstats swissprot:ACHA3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ACHA3_HUMAN pepwheel swissprot:ACHA3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ACHA3_HUMAN pepwindow swissprot:ACHA3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ACHA3_HUMAN sigcleave swissprot:ACHA3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ACHA3_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S4A7_HUMAN Event=Alternative splicing; Named isoforms=14; Name=1; Synonyms=mNBC3, NBCn1-A; IsoId=Q9Y6M7-1; Sequence=Displayed; Name=2; Synonyms=NBCn1-F; IsoId=Q9Y6M7-2; Sequence=VSP_047844; Note=Contains a phosphoserine at position 258. Contains a phosphoserine at position 255. {ECO 0000244|PubMed 18669648, ECO 0000244|PubMed 19690332, ECO 0000244|PubMed 20068231, ECO 0000244|PubMed 21406692}; Name=3; IsoId=Q9Y6M7-3; Sequence=VSP_047839, VSP_047842, VSP_047844, VSP_047849; Note=Contains a phosphoserine at position 168. Contains a phosphoserine at position 1010. Contains a phosphoserine at position 1016. Contains a phosphoserine at position 165. Contains a phosphoserine at position 1007. {ECO 0000244|PubMed 18669648, ECO 0000244|PubMed 19690332, ECO 0000244|PubMed 20068231, ECO 0000244|PubMed 21406692}; Name=4; IsoId=Q9Y6M7-4; Sequence=VSP_047839, VSP_047842, VSP_047844; Note=Contains a phosphoserine at position 168. Contains a phosphoserine at position 165. {ECO 0000244|PubMed 18669648, ECO 0000244|PubMed 19690332, ECO 0000244|PubMed 20068231, ECO 0000244|PubMed 21406692}; Name=5; IsoId=Q9Y6M7-5; Sequence=VSP_047838, VSP_047845, VSP_047848; Note=No experimental confirmation available. Contains a phosphoserine at position 774. Contains a phosphoserine at position 780. Contains a phosphoserine at position 742. Contains a phosphoserine at position 771. {ECO 0000244|PubMed 18669648, ECO 0000244|PubMed 19690332, ECO 0000244|PubMed 20068231, ECO 0000244|PubMed 21406692}; Name=6; Synonyms=NBCn1-G; IsoId=Q9Y6M7-6; Sequence=VSP_047840, VSP_047844, VSP_047848; Note=Contains a phosphoserine at position 263. Contains a phosphoserine at position 1105. Contains a phosphoserine at position 1111. Contains a phosphoserine at position 1073. Contains a phosphoserine at position 260. Contains a phosphoserine at position 1102. {ECO 0000244|PubMed 18669648, ECO 0000244|PubMed 19690332, ECO 0000244|PubMed 20068231, ECO 0000244|PubMed 21406692}; Name=7; Synonyms=NBCn1-D; IsoId=Q9Y6M7-7; Sequence=VSP_047841, VSP_047848; Note=Contains a phosphoserine at position 1233. Contains a phosphoserine at position 1239. Contains a phosphoserine at position 1201. Contains a phosphoserine at position 1230. {ECO 0000244|PubMed 18669648, ECO 0000244|PubMed 19690332, ECO 0000244|PubMed 20068231, ECO 0000244|PubMed 21406692}; Name=8; Synonyms=NBCn1-C; IsoId=Q9Y6M7-8; Sequence=VSP_047841, VSP_047843, VSP_047848; Note=Contains a phosphoserine at position 1220. Contains a phosphoserine at position 1226. Contains a phosphoserine at position 1188. Contains a phosphoserine at position 1217. {ECO 0000244|PubMed 18669648, ECO 0000244|PubMed 19690332, ECO 0000244|PubMed 20068231, ECO 0000244|PubMed 21406692}; Name=9; Synonyms=NBCn1-E; IsoId=Q9Y6M7-9; Sequence=VSP_047840, VSP_047844; Note=Contains a phosphoserine at position 263. Contains a phosphoserine at position 260. {ECO 0000244|PubMed 18669648, ECO 0000244|PubMed 19690332, ECO 0000244|PubMed 20068231, ECO 0000244|PubMed 21406692}; Name=10; IsoId=Q9Y6M7-10; Sequence=VSP_047840, VSP_047843, VSP_047846, VSP_047847; Name=11; IsoId=Q9Y6M7-11; Sequence=VSP_047840, VSP_047844, VSP_047846, VSP_047847; Note=Contains a phosphoserine at position 263. Contains a phosphoserine at position 260. {ECO 0000244|PubMed 18669648, ECO 0000244|PubMed 19690332, ECO 0000244|PubMed 20068231, ECO 0000244|PubMed 21406692}; Name=12; Synonyms=NBCn1-H; IsoId=Q9Y6M7-12; Sequence=VSP_047840, VSP_047843; Name=13; IsoId=Q9Y6M7-13; Sequence=VSP_047841, VSP_047844, VSP_047848; Note=Contains a phosphoserine at position 267. Contains a phosphoserine at position 1109. Contains a phosphoserine at position 1115. Contains a phosphoserine at position 1077. Contains a phosphoserine at position 264. Contains a phosphoserine at position 1106. {ECO 0000244|PubMed 18669648, ECO 0000244|PubMed 19690332, ECO 0000244|PubMed 20068231, ECO 0000244|PubMed 21406692}; Name=14; IsoId=Q9Y6M7-14; Sequence=VSP_047841, VSP_047844, VSP_047846, VSP_047847; Note=Contains a phosphoserine at position 267. Contains a phosphoserine at position 264. {ECO 0000244|PubMed 18669648, ECO 0000244|PubMed 19690332, ECO 0000244|PubMed 20068231, ECO 0000244|PubMed 21406692}; # AltName S4A7_HUMAN Electroneutral Na/HCO(3) cotransporter # AltName S4A7_HUMAN Sodium bicarbonate cotransporter 2 # AltName S4A7_HUMAN Sodium bicarbonate cotransporter 2b # AltName S4A7_HUMAN Solute carrier family 4 member 7 # BIOPHYSICOCHEMICAL PROPERTIES Kinetic parameters: KM=24 mM for external sodium {ECO 0000269|PubMed:10347222}; # BioGrid 114876 28 # CCDS CCDS33721 -. [Q9Y6M7-1] # CCDS CCDS58819 -. [Q9Y6M7-2] # CCDS CCDS58820 -. [Q9Y6M7-6] # CCDS CCDS82747 -. [Q9Y6M7-7] # CCDS CCDS82749 -. [Q9Y6M7-8] # CCDS CCDS82750 -. [Q9Y6M7-9] # CCDS CCDS82751 -. [Q9Y6M7-12] # ChiTaRS SLC4A7 human # DOMAIN S4A7_HUMAN The PDZ-binding motif mediates interaction with the CFTR, SLC9A3R1/EBP50 complex and probably with USH1C. {ECO 0000269|PubMed 12403779}. # DrugBank DB01390 Sodium bicarbonate # ENZYME REGULATION Transporter activity is regulated by CA2/carbonic anhydrase 2, cAMP and PKA. Insensitive to stilbene derivatives. PubMed 10347222 states it is inhibited by 5-(N-ethyl- N-isopropyl)-amiloride (EIPA). # Ensembl ENST00000295736 ENSP00000295736; ENSG00000033867. [Q9Y6M7-1] # Ensembl ENST00000428386 ENSP00000416368; ENSG00000033867. [Q9Y6M7-2] # Ensembl ENST00000437179 ENSP00000394252; ENSG00000033867. [Q9Y6M7-9] # Ensembl ENST00000437266 ENSP00000409418; ENSG00000033867. [Q9Y6M7-11] # Ensembl ENST00000438530 ENSP00000407304; ENSG00000033867. [Q9Y6M7-10] # Ensembl ENST00000440156 ENSP00000414797; ENSG00000033867. [Q9Y6M7-8] # Ensembl ENST00000446700 ENSP00000406605; ENSG00000033867. [Q9Y6M7-12] # Ensembl ENST00000454389 ENSP00000390394; ENSG00000033867. [Q9Y6M7-7] # Ensembl ENST00000455077 ENSP00000407382; ENSG00000033867. [Q9Y6M7-6] # Ensembl ENST00000457377 ENSP00000408323; ENSG00000033867. [Q9Y6M7-11] # ExpressionAtlas Q9Y6M7 baseline and differential # FUNCTION S4A7_HUMAN Electroneutral sodium- and bicarbonate-dependent cotransporter with a Na(+) HCO3(-) 1 1 stoichiometry. Regulates intracellular pH and may play a role in bicarbonate salvage in secretory epithelia. May also have an associated sodium channel activity. {ECO 0000269|PubMed 10347222, ECO 0000269|PubMed 12403779}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0016021 integral component of membrane; NAS:UniProtKB. # GO_component GO:0016323 basolateral plasma membrane; IEA:UniProtKB-SubCell. # GO_component GO:0016324 apical plasma membrane; IEA:UniProtKB-SubCell. # GO_component GO:0031410 cytoplasmic vesicle; IEA:Ensembl. # GO_component GO:0032420 stereocilium; IEA:UniProtKB-SubCell. # GO_component GO:0045202 synapse; IEA:Ensembl. # GO_function GO:0005452 inorganic anion exchanger activity; IEA:InterPro. # GO_function GO:0008509 anion transmembrane transporter activity; IBA:GO_Central. # GO_function S4A7_HUMAN GO 0008510 sodium bicarbonate symporter activity; NAS UniProtKB. # GO_process GO:0015701 bicarbonate transport; NAS:UniProtKB. # GO_process GO:0051453 regulation of intracellular pH; IBA:GO_Central. # GO_process GO:0060117 auditory receptor cell development; IBA:GO_Central. # GO_process GO:0098656 anion transmembrane transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0031410 cytoplasmic vesicle # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0055085 transmembrane transport # Gene3D 3.40.1100.10 -; 2. # Genevisible Q9Y6M7 HS # HGNC HGNC:11033 SLC4A7 # IntAct Q9Y6M7 6 # InterPro IPR003020 HCO3_transpt_euk # InterPro IPR011531 HCO3_transpt_C # InterPro IPR013769 Band3_cytoplasmic_dom # InterPro IPR016152 PTrfase/Anion_transptr # KEGG_Brite ko02001 Solute carrier family # MIM 603353 gene # Organism S4A7_HUMAN Homo sapiens (Human) # PANTHER PTHR11453 PTHR11453; 2 # PIR JE0160 JE0160 # PRINTS PR01231 HCO3TRNSPORT # Pfam PF00955 HCO3_cotransp # Pfam PF07565 Band_3_cyto # Proteomes UP000005640 Chromosome 3 # Reactome R-HSA-425381 Bicarbonate transporters # RecName S4A7_HUMAN Sodium bicarbonate cotransporter 3 # RefSeq NP_001245308 NM_001258379.1. [Q9Y6M7-6] # RefSeq NP_001245309 NM_001258380.1. [Q9Y6M7-2] # RefSeq NP_001308032 NM_001321103.1. [Q9Y6M7-7] # RefSeq NP_001308033 NM_001321104.1. [Q9Y6M7-8] # RefSeq NP_001308034 NM_001321105.1 # RefSeq NP_001308035 NM_001321106.1. [Q9Y6M7-12] # RefSeq NP_001308036 NM_001321107.1. [Q9Y6M7-9] # RefSeq NP_001308037 NM_001321108.1. [Q9Y6M7-13] # RefSeq NP_003606 NM_003615.4. [Q9Y6M7-1] # RefSeq XP_016863017 XM_017007528.1. [Q9Y6M7-5] # RefSeq XP_016863018 XM_017007529.1. [Q9Y6M7-5] # SIMILARITY Belongs to the anion exchanger (TC 2.A.31) family. {ECO 0000305}. # SUBCELLULAR LOCATION S4A7_HUMAN Basolateral cell membrane; Multi-pass membrane protein. Apical cell membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. Cell projection, stereocilium {ECO 0000250}. Note=Also described at the apical cell membrane. Localizes to the stereocilia of cochlear outer hair cells and to the lateral membrane of cochlear inner hair cells (By similarity). {ECO 0000250}. # SUBUNIT S4A7_HUMAN Interacts with CFTR through SLC9A3R1/EBP50. Interacts with USH1C. Forms a complex with ATP6V1B1 and SLC9A3R1/EBP50. Interacts in a pH dependent-manner with CA2/carbonic anhydrase 2. {ECO 0000269|PubMed 12403779, ECO 0000269|PubMed 12444018, ECO 0000269|PubMed 14736710, ECO 0000269|PubMed 16301216}. # SUPFAM SSF55804 SSF55804; 2 # TCDB 2.A.31.2.11 the anion exchanger (ae) family # TIGRFAMs TIGR00834 ae # TISSUE SPECIFICITY Highly expressed in testis and spleen. Also expressed in retina, colon, small intestine, ovary, thymus, prostate, muscle, heart and kidney. Isoform 1 is expressed in skeletal muscle and heart muscle. {ECO:0000269|PubMed 9610397}. # UCSC uc003cdu human. [Q9Y6M7-1] # eggNOG ENOG410XPHD LUCA # eggNOG KOG1172 Eukaryota BLAST swissprot:S4A7_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S4A7_HUMAN COXPRESdb 9497 http://coxpresdb.jp/data/gene/9497.shtml CleanEx HS_SLC4A7 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC4A7 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1006/bbrc.1998.8658 http://dx.doi.org/10.1006/bbrc.1998.8658 DOI 10.1016/j.cell.2006.09.026 http://dx.doi.org/10.1016/j.cell.2006.09.026 DOI 10.1021/ac035352d http://dx.doi.org/10.1021/ac035352d DOI 10.1021/pr0705441 http://dx.doi.org/10.1021/pr0705441 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature04728 http://dx.doi.org/10.1038/nature04728 DOI 10.1038/nbt.1532 http://dx.doi.org/10.1038/nbt.1532 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1074/jbc.274.23.16569 http://dx.doi.org/10.1074/jbc.274.23.16569 DOI 10.1074/jbc.M201862200 http://dx.doi.org/10.1074/jbc.M201862200 DOI 10.1093/hmg/ddi417 http://dx.doi.org/10.1093/hmg/ddi417 DOI 10.1126/scisignal.2000007 http://dx.doi.org/10.1126/scisignal.2000007 DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 DOI 10.1126/scisignal.2001570 http://dx.doi.org/10.1126/scisignal.2001570 DOI 10.1152/ajpcell.00225.2002 http://dx.doi.org/10.1152/ajpcell.00225.2002 DOI 10.1152/ajpcell.00382.2003 http://dx.doi.org/10.1152/ajpcell.00382.2003 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 DOI 10.1242/jeb.028563 http://dx.doi.org/10.1242/jeb.028563 DrugBank DB01390 http://www.drugbank.ca/drugs/DB01390 EMBL AB012130 http://www.ebi.ac.uk/ena/data/view/AB012130 EMBL AC099535 http://www.ebi.ac.uk/ena/data/view/AC099535 EMBL AF047033 http://www.ebi.ac.uk/ena/data/view/AF047033 EMBL AF053755 http://www.ebi.ac.uk/ena/data/view/AF053755 EMBL AF089726 http://www.ebi.ac.uk/ena/data/view/AF089726 EMBL CH471055 http://www.ebi.ac.uk/ena/data/view/CH471055 EMBL CR627428 http://www.ebi.ac.uk/ena/data/view/CR627428 EMBL EU499349 http://www.ebi.ac.uk/ena/data/view/EU499349 EMBL EU934246 http://www.ebi.ac.uk/ena/data/view/EU934246 EMBL EU934248 http://www.ebi.ac.uk/ena/data/view/EU934248 EMBL EU934249 http://www.ebi.ac.uk/ena/data/view/EU934249 EMBL EU934250 http://www.ebi.ac.uk/ena/data/view/EU934250 EMBL FJ178574 http://www.ebi.ac.uk/ena/data/view/FJ178574 EMBL FJ178575 http://www.ebi.ac.uk/ena/data/view/FJ178575 EMBL FJ178576 http://www.ebi.ac.uk/ena/data/view/FJ178576 EMBL GU354307 http://www.ebi.ac.uk/ena/data/view/GU354307 EMBL GU354308 http://www.ebi.ac.uk/ena/data/view/GU354308 EMBL GU354309 http://www.ebi.ac.uk/ena/data/view/GU354309 EMBL GU354310 http://www.ebi.ac.uk/ena/data/view/GU354310 Ensembl ENST00000295736 http://www.ensembl.org/id/ENST00000295736 Ensembl ENST00000428386 http://www.ensembl.org/id/ENST00000428386 Ensembl ENST00000437179 http://www.ensembl.org/id/ENST00000437179 Ensembl ENST00000437266 http://www.ensembl.org/id/ENST00000437266 Ensembl ENST00000438530 http://www.ensembl.org/id/ENST00000438530 Ensembl ENST00000440156 http://www.ensembl.org/id/ENST00000440156 Ensembl ENST00000446700 http://www.ensembl.org/id/ENST00000446700 Ensembl ENST00000454389 http://www.ensembl.org/id/ENST00000454389 Ensembl ENST00000455077 http://www.ensembl.org/id/ENST00000455077 Ensembl ENST00000457377 http://www.ensembl.org/id/ENST00000457377 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0016323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016323 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:0031410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410 GO_component GO:0032420 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032420 GO_component GO:0045202 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045202 GO_function GO:0005452 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005452 GO_function GO:0008509 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008509 GO_function GO:0008510 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008510 GO_process GO:0015701 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015701 GO_process GO:0051453 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051453 GO_process GO:0060117 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060117 GO_process GO:0098656 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0098656 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0031410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 3.40.1100.10 http://www.cathdb.info/version/latest/superfamily/3.40.1100.10 GeneCards SLC4A7 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC4A7 GeneID 9497 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=9497 GeneTree ENSGT00760000119021 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119021 HGNC HGNC:11033 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11033 HOGENOM HOG000280684 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000280684&db=HOGENOM6 HOVERGEN HBG004326 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG004326&db=HOVERGEN HPA CAB022494 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB022494 HPA HPA035857 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA035857 InParanoid Q9Y6M7 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9Y6M7 IntAct Q9Y6M7 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9Y6M7* InterPro IPR003020 http://www.ebi.ac.uk/interpro/entry/IPR003020 InterPro IPR011531 http://www.ebi.ac.uk/interpro/entry/IPR011531 InterPro IPR013769 http://www.ebi.ac.uk/interpro/entry/IPR013769 InterPro IPR016152 http://www.ebi.ac.uk/interpro/entry/IPR016152 Jabion 9497 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=9497 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:9497 http://www.genome.jp/dbget-bin/www_bget?hsa:9497 KEGG_Orthology KO:K13858 http://www.genome.jp/dbget-bin/www_bget?KO:K13858 MIM 603353 http://www.ncbi.nlm.nih.gov/omim/603353 MINT MINT-1632023 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1632023 OMA ETYAFNM http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=ETYAFNM OrthoDB EOG091G01FT http://cegg.unige.ch/orthodb/results?searchtext=EOG091G01FT PANTHER PTHR11453 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11453 PRINTS PR01231 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01231 PSORT swissprot:S4A7_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S4A7_HUMAN PSORT-B swissprot:S4A7_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S4A7_HUMAN PSORT2 swissprot:S4A7_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S4A7_HUMAN Pfam PF00955 http://pfam.xfam.org/family/PF00955 Pfam PF07565 http://pfam.xfam.org/family/PF07565 PharmGKB PA35899 http://www.pharmgkb.org/do/serve?objId=PA35899&objCls=Gene Phobius swissprot:S4A7_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S4A7_HUMAN PhylomeDB Q9Y6M7 http://phylomedb.org/?seqid=Q9Y6M7 ProteinModelPortal Q9Y6M7 http://www.proteinmodelportal.org/query/uniprot/Q9Y6M7 PubMed 10347222 http://www.ncbi.nlm.nih.gov/pubmed/10347222 PubMed 12403779 http://www.ncbi.nlm.nih.gov/pubmed/12403779 PubMed 12444018 http://www.ncbi.nlm.nih.gov/pubmed/12444018 PubMed 14736710 http://www.ncbi.nlm.nih.gov/pubmed/14736710 PubMed 15144186 http://www.ncbi.nlm.nih.gov/pubmed/15144186 PubMed 16301216 http://www.ncbi.nlm.nih.gov/pubmed/16301216 PubMed 16641997 http://www.ncbi.nlm.nih.gov/pubmed/16641997 PubMed 17081983 http://www.ncbi.nlm.nih.gov/pubmed/17081983 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 PubMed 18220336 http://www.ncbi.nlm.nih.gov/pubmed/18220336 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 19349973 http://www.ncbi.nlm.nih.gov/pubmed/19349973 PubMed 19448079 http://www.ncbi.nlm.nih.gov/pubmed/19448079 PubMed 19690332 http://www.ncbi.nlm.nih.gov/pubmed/19690332 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 21406692 http://www.ncbi.nlm.nih.gov/pubmed/21406692 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 9610397 http://www.ncbi.nlm.nih.gov/pubmed/9610397 Reactome R-HSA-425381 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-425381 RefSeq NP_001245308 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001245308 RefSeq NP_001245309 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001245309 RefSeq NP_001308032 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001308032 RefSeq NP_001308033 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001308033 RefSeq NP_001308034 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001308034 RefSeq NP_001308035 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001308035 RefSeq NP_001308036 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001308036 RefSeq NP_001308037 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001308037 RefSeq NP_003606 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_003606 RefSeq XP_016863017 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016863017 RefSeq XP_016863018 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016863018 STRING 9606.ENSP00000295736 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000295736&targetmode=cogs SUPFAM SSF55804 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF55804 TCDB 2.A.31.2.11 http://www.tcdb.org/search/result.php?tc=2.A.31.2.11 TIGRFAMs TIGR00834 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00834 UCSC uc003cdu http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003cdu&org=rat UniGene Hs.250072 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.250072 UniProtKB S4A7_HUMAN http://www.uniprot.org/uniprot/S4A7_HUMAN UniProtKB-AC Q9Y6M7 http://www.uniprot.org/uniprot/Q9Y6M7 charge swissprot:S4A7_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S4A7_HUMAN eggNOG ENOG410XPHD http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XPHD eggNOG KOG1172 http://eggnogapi.embl.de/nog_data/html/tree/KOG1172 epestfind swissprot:S4A7_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S4A7_HUMAN garnier swissprot:S4A7_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S4A7_HUMAN helixturnhelix swissprot:S4A7_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S4A7_HUMAN hmoment swissprot:S4A7_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S4A7_HUMAN iep swissprot:S4A7_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S4A7_HUMAN inforesidue swissprot:S4A7_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S4A7_HUMAN neXtProt NX_Q9Y6M7 http://www.nextprot.org/db/entry/NX_Q9Y6M7 octanol swissprot:S4A7_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S4A7_HUMAN pepcoil swissprot:S4A7_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S4A7_HUMAN pepdigest swissprot:S4A7_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S4A7_HUMAN pepinfo swissprot:S4A7_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S4A7_HUMAN pepnet swissprot:S4A7_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S4A7_HUMAN pepstats swissprot:S4A7_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S4A7_HUMAN pepwheel swissprot:S4A7_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S4A7_HUMAN pepwindow swissprot:S4A7_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S4A7_HUMAN sigcleave swissprot:S4A7_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S4A7_HUMAN ## Database ID URL or Descriptions # AltName SC5A5_HUMAN Sodium-iodide symporter # AltName SC5A5_HUMAN Solute carrier family 5 member 5 # BioGrid 112419 11 # ChiTaRS SLC5A5 human # DISEASE SC5A5_HUMAN Thyroid dyshormonogenesis 1 (TDH1) [MIM 274400] A disorder characterized by the inability of the thyroid to maintain a concentration difference of readily exchangeable iodine between the plasma and the thyroid gland, leading to congenital hypothyroidism. {ECO 0000269|PubMed 10487695, ECO 0000269|PubMed 9171822, ECO 0000269|PubMed 9486973, ECO 0000269|PubMed 9745458}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000222248 ENSP00000222248; ENSG00000105641 # FUNCTION SC5A5_HUMAN Mediates iodide uptake in the thyroid gland. # GO_component GO:0005634 nucleus; IDA:UniProtKB. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0016021 integral component of membrane; TAS:ProtInc. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_component GO:1903561 extracellular vesicle; IDA:UniProtKB. # GO_function GO:0015111 iodide transmembrane transporter activity; IMP:UniProtKB. # GO_function SC5A5_HUMAN GO 0008507 sodium iodide symporter activity; IBA GO_Central. # GO_process GO:0006590 thyroid hormone generation; IBA:GO_Central. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0006811 ion transport; TAS:Reactome. # GO_process GO:0015705 iodide transport; IMP:UniProtKB. # GO_process GO:0071320 cellular response to cAMP; IEP:UniProtKB. # GO_process GO:0071371 cellular response to gonadotropin stimulus; IEP:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # Genevisible Q92911 HS # HGNC HGNC:11040 SLC5A5 # InterPro IPR001734 Na/solute_symporter # InterPro IPR018212 Na/solute_symporter_CS # KEGG_Brite ko02001 Solute carrier family # KEGG_Disease H00251 [Endocrine disease] Dyshormogenetic goiter # MIM 274400 phenotype # MIM 601843 gene # Organism SC5A5_HUMAN Homo sapiens (Human) # Orphanet 95716 Familial thyroid dyshormonogenesis # PANTHER PTHR11819 PTHR11819; 2 # PIR JC4974 JC4974 # PROSITE PS00456 NA_SOLUT_SYMP_1 # PROSITE PS50283 NA_SOLUT_SYMP_3 # Pfam PF00474 SSF # Proteomes UP000005640 Chromosome 19 # Reactome R-HSA-209968 Thyroxine biosynthesis # Reactome R-HSA-428643 Organic anion transporters # RecName SC5A5_HUMAN Sodium/iodide cotransporter # RefSeq NP_000444 NM_000453.2 # SIMILARITY Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family. {ECO 0000305}. # SUBCELLULAR LOCATION SC5A5_HUMAN Membrane; Multi-pass membrane protein. # TCDB 2.A.21.5:the solute sodium symporter (sss) family # TIGRFAMs TIGR00813 sss # TISSUE SPECIFICITY SC5A5_HUMAN Expression is primarily in thyroid tissue, but also to a lower extent in mammary gland and ovary. Expression is reduced in tumors. {ECO 0000269|PubMed 8806637, ECO 0000269|PubMed 9329364}. # UCSC uc002nhr human # WEB RESOURCE SC5A5_HUMAN Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http //atlasgeneticsoncology.org/Genes/SLC5A5ID44476ch19p13.html"; # eggNOG COG0591 LUCA # eggNOG KOG2349 Eukaryota BLAST swissprot:SC5A5_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SC5A5_HUMAN BioCyc ZFISH:ENSG00000105641-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000105641-MONOMER COXPRESdb 6528 http://coxpresdb.jp/data/gene/6528.shtml CleanEx HS_SLC5A5 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC5A5 DOI 10.1006/bbrc.1996.1358 http://dx.doi.org/10.1006/bbrc.1996.1358 DOI 10.1038/nature02399 http://dx.doi.org/10.1038/nature02399 DOI 10.1038/ng0697-124 http://dx.doi.org/10.1038/ng0697-124 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1172/JCI1504 http://dx.doi.org/10.1172/JCI1504 DOI 10.1210/jc.82.10.3331 http://dx.doi.org/10.1210/jc.82.10.3331 DOI 10.1210/jc.83.9.3365 http://dx.doi.org/10.1210/jc.83.9.3365 DOI 10.1210/jc.84.9.3248 http://dx.doi.org/10.1210/jc.84.9.3248 EMBL AC005796 http://www.ebi.ac.uk/ena/data/view/AC005796 EMBL AF260700 http://www.ebi.ac.uk/ena/data/view/AF260700 EMBL BC105047 http://www.ebi.ac.uk/ena/data/view/BC105047 EMBL BC105049 http://www.ebi.ac.uk/ena/data/view/BC105049 EMBL D87920 http://www.ebi.ac.uk/ena/data/view/D87920 EMBL U66088 http://www.ebi.ac.uk/ena/data/view/U66088 Ensembl ENST00000222248 http://www.ensembl.org/id/ENST00000222248 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_component GO:1903561 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903561 GO_function GO:0008507 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008507 GO_function GO:0015111 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015111 GO_process GO:0006590 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006590 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0006811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006811 GO_process GO:0015705 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015705 GO_process GO:0071320 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071320 GO_process GO:0071371 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071371 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GeneCards SLC5A5 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC5A5 GeneID 6528 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6528 GeneTree ENSGT00760000118955 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118955 HGNC HGNC:11040 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11040 HOGENOM HOG000261662 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000261662&db=HOGENOM6 HOVERGEN HBG057280 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG057280&db=HOVERGEN HPA CAB022364 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB022364 HPA HPA049055 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA049055 InParanoid Q92911 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q92911 IntAct Q92911 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q92911* InterPro IPR001734 http://www.ebi.ac.uk/interpro/entry/IPR001734 InterPro IPR018212 http://www.ebi.ac.uk/interpro/entry/IPR018212 Jabion 6528 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6528 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Disease H00251 http://www.genome.jp/dbget-bin/www_bget?H00251 KEGG_Gene hsa:6528 http://www.genome.jp/dbget-bin/www_bget?hsa:6528 KEGG_Orthology KO:K14385 http://www.genome.jp/dbget-bin/www_bget?KO:K14385 MIM 274400 http://www.ncbi.nlm.nih.gov/omim/274400 MIM 601843 http://www.ncbi.nlm.nih.gov/omim/601843 OMA ATFGAWD http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=ATFGAWD Orphanet 95716 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=95716 OrthoDB EOG091G07OC http://cegg.unige.ch/orthodb/results?searchtext=EOG091G07OC PANTHER PTHR11819 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11819 PROSITE PS00456 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00456 PROSITE PS50283 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50283 PSORT swissprot:SC5A5_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SC5A5_HUMAN PSORT-B swissprot:SC5A5_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SC5A5_HUMAN PSORT2 swissprot:SC5A5_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SC5A5_HUMAN Pfam PF00474 http://pfam.xfam.org/family/PF00474 PharmGKB PA35905 http://www.pharmgkb.org/do/serve?objId=PA35905&objCls=Gene Phobius swissprot:SC5A5_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SC5A5_HUMAN PhylomeDB Q92911 http://phylomedb.org/?seqid=Q92911 ProteinModelPortal Q92911 http://www.proteinmodelportal.org/query/uniprot/Q92911 PubMed 10487695 http://www.ncbi.nlm.nih.gov/pubmed/10487695 PubMed 15057824 http://www.ncbi.nlm.nih.gov/pubmed/15057824 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 8806637 http://www.ncbi.nlm.nih.gov/pubmed/8806637 PubMed 9171822 http://www.ncbi.nlm.nih.gov/pubmed/9171822 PubMed 9329364 http://www.ncbi.nlm.nih.gov/pubmed/9329364 PubMed 9486973 http://www.ncbi.nlm.nih.gov/pubmed/9486973 PubMed 9745458 http://www.ncbi.nlm.nih.gov/pubmed/9745458 Reactome R-HSA-209968 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-209968 Reactome R-HSA-428643 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-428643 RefSeq NP_000444 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000444 STRING 9606.ENSP00000222248 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000222248&targetmode=cogs TCDB 2.A.21.5 http://www.tcdb.org/search/result.php?tc=2.A.21.5 TIGRFAMs TIGR00813 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00813 UCSC uc002nhr http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002nhr&org=rat UniGene Hs.584804 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.584804 UniProtKB SC5A5_HUMAN http://www.uniprot.org/uniprot/SC5A5_HUMAN UniProtKB-AC Q92911 http://www.uniprot.org/uniprot/Q92911 charge swissprot:SC5A5_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SC5A5_HUMAN eggNOG COG0591 http://eggnogapi.embl.de/nog_data/html/tree/COG0591 eggNOG KOG2349 http://eggnogapi.embl.de/nog_data/html/tree/KOG2349 epestfind swissprot:SC5A5_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SC5A5_HUMAN garnier swissprot:SC5A5_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SC5A5_HUMAN helixturnhelix swissprot:SC5A5_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SC5A5_HUMAN hmoment swissprot:SC5A5_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SC5A5_HUMAN iep swissprot:SC5A5_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SC5A5_HUMAN inforesidue swissprot:SC5A5_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SC5A5_HUMAN neXtProt NX_Q92911 http://www.nextprot.org/db/entry/NX_Q92911 octanol swissprot:SC5A5_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SC5A5_HUMAN pepcoil swissprot:SC5A5_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SC5A5_HUMAN pepdigest swissprot:SC5A5_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SC5A5_HUMAN pepinfo swissprot:SC5A5_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SC5A5_HUMAN pepnet swissprot:SC5A5_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SC5A5_HUMAN pepstats swissprot:SC5A5_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SC5A5_HUMAN pepwheel swissprot:SC5A5_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SC5A5_HUMAN pepwindow swissprot:SC5A5_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SC5A5_HUMAN sigcleave swissprot:SC5A5_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SC5A5_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S23A1_HUMAN Event=Alternative splicing; Named isoforms=3; Comment=Experimental confirmation may be lacking for some isoforms.; Name=1; IsoId=Q9UHI7-1; Sequence=Displayed; Name=2; IsoId=Q9UHI7-2; Sequence=VSP_006814; Note=Inactive.; Name=3; IsoId=Q9UHI7-3; Sequence=VSP_006813; # AltName S23A1_HUMAN Na(+)/L-ascorbic acid transporter 1 # AltName S23A1_HUMAN Sodium-dependent vitamin C transporter 1 # AltName S23A1_HUMAN Yolk sac permease-like molecule 3 # BioGrid 115288 12 # CCDS CCDS4212 -. [Q9UHI7-1] # CCDS CCDS4213 -. [Q9UHI7-2] # DrugBank DB00126 Vitamin C # Ensembl ENST00000348729 ENSP00000302701; ENSG00000170482 # Ensembl ENST00000353963 ENSP00000302851; ENSG00000170482 # ExpressionAtlas Q9UHI7 baseline and differential # FUNCTION S23A1_HUMAN Sodium/ascorbate cotransporter. Mediates electrogenic uptake of vitamin C, with a stoichiometry of 2 Na(+) for each ascorbate. # GO_component GO:0005737 cytoplasm; ISS:UniProtKB. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0009925 basal plasma membrane; IEA:Ensembl. # GO_component GO:0016020 membrane; TAS:ProtInc. # GO_component GO:0016324 apical plasma membrane; IDA:UniProtKB. # GO_component GO:0043229 intracellular organelle; IDA:UniProtKB. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0015081 sodium ion transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0015205 nucleobase transmembrane transporter activity; TAS:ProtInc. # GO_function GO:0015229 L-ascorbic acid transporter activity; IDA:UniProtKB. # GO_function GO:0033300 dehydroascorbic acid transporter activity; IMP:UniProtKB. # GO_function GO:0070890 sodium-dependent L-ascorbate transmembrane transporter activity; IDA:UniProtKB. # GO_function S23A1_HUMAN GO 0008520 L-ascorbate sodium symporter activity; IDA UniProtKB. # GO_process GO:0006139 nucleobase-containing compound metabolic process; TAS:ProtInc. # GO_process GO:0006814 sodium ion transport; IDA:UniProtKB. # GO_process GO:0007420 brain development; ISS:UniProtKB. # GO_process GO:0009636 response to toxic substance; IDA:UniProtKB. # GO_process GO:0015851 nucleobase transport; TAS:ProtInc. # GO_process GO:0015882 L-ascorbic acid transport; IDA:UniProtKB. # GO_process GO:0019852 L-ascorbic acid metabolic process; TAS:Reactome. # GO_process GO:0030324 lung development; IEA:Ensembl. # GO_process GO:0070837 dehydroascorbic acid transport; IMP:UniProtKB. # GO_process GO:0070904 transepithelial L-ascorbic acid transport; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0005975 carbohydrate metabolic process # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0044281 small molecule metabolic process # GOslim_process GO:0048856 anatomical structure development # Genevisible Q9UHI7 HS # HGNC HGNC:10974 SLC23A1 # INTERACTION S23A1_HUMAN Q6UY14-3 ADAMTSL4; NbExp=3; IntAct=EBI-1759386, EBI-10173507; O43865 AHCYL1; NbExp=3; IntAct=EBI-1759386, EBI-2371423; Q15323 KRT31; NbExp=3; IntAct=EBI-1759386, EBI-948001; P60370 KRTAP10-5; NbExp=3; IntAct=EBI-1759386, EBI-10172150; P60409 KRTAP10-7; NbExp=3; IntAct=EBI-1759386, EBI-10172290; P60410 KRTAP10-8; NbExp=3; IntAct=EBI-1759386, EBI-10171774; P60411 KRTAP10-9; NbExp=3; IntAct=EBI-1759386, EBI-10172052; Q9BYR5 KRTAP4-2; NbExp=3; IntAct=EBI-1759386, EBI-10172511; Q5JR59 MTUS2; NbExp=3; IntAct=EBI-1759386, EBI-742948; P16333 NCK1; NbExp=2; IntAct=EBI-1759386, EBI-389883; Q7Z3S9 NOTCH2NL; NbExp=3; IntAct=EBI-1759386, EBI-945833; # IntAct Q9UHI7 21 # InterPro IPR006043 Xant/urac/vitC # InterPro IPR029954 SLC23A1 # KEGG_Brite ko02001 Solute carrier family # MIM 603790 gene # MISCELLANEOUS S23A1_HUMAN Treatment with the protein kinase C stimulator PMA results in a 10-fold decrease in ascorbate accumulation in transfected cells. # Organism S23A1_HUMAN Homo sapiens (Human) # PANTHER PTHR11119 PTHR11119 # PANTHER PTHR11119:SF21 PTHR11119:SF21 # PIR JC7182 JC7182 # PTM S23A1_HUMAN Phosphorylated. {ECO 0000305}. # Pfam PF00860 Xan_ur_permease # Proteomes UP000005640 Chromosome 5 # Reactome R-HSA-196836 Vitamin C (ascorbate) metabolism # RecName S23A1_HUMAN Solute carrier family 23 member 1 # RefSeq NP_005838 NM_005847.4 # RefSeq NP_689898 NM_152685.3 # SIMILARITY Belongs to the xanthine/uracil permease family. Nucleobase:cation symporter-2 (NCS2) (TC 2.A.40) subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION S23A1_HUMAN Cell membrane {ECO 0000269|PubMed 19379732}; Multi-pass membrane protein {ECO 0000269|PubMed 19379732}. # TCDB 2.A.40.6:the nucleobase/ascorbate transporter (nat) or nucleobase cation symporter-2 (ncs2) family # TISSUE SPECIFICITY S23A1_HUMAN Highly expressed in adult small intestine, kidney, thymus, ovary, colon, prostate and liver, and in fetal kidney, liver and thymus. # UCSC uc003leg human. [Q9UHI7-1] # eggNOG COG2233 LUCA # eggNOG KOG1292 Eukaryota BLAST swissprot:S23A1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S23A1_HUMAN BioCyc ZFISH:ENSG00000170482-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000170482-MONOMER COXPRESdb 9963 http://coxpresdb.jp/data/gene/9963.shtml CleanEx HS_SLC23A1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC23A1 DOI 10.1006/bbrc.1999.1929 http://dx.doi.org/10.1006/bbrc.1999.1929 DOI 10.1016/S0005-2736(99)00182-0 http://dx.doi.org/10.1016/S0005-2736(99)00182-0 DOI 10.1016/S0014-5793(99)01393-9 http://dx.doi.org/10.1016/S0014-5793(99)01393-9 DOI 10.1016/S0167-4781(98)00151-1 http://dx.doi.org/10.1016/S0167-4781(98)00151-1 DOI 10.1016/j.yexcr.2009.04.007 http://dx.doi.org/10.1016/j.yexcr.2009.04.007 DOI 10.1038/nature02919 http://dx.doi.org/10.1038/nature02919 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DrugBank DB00126 http://www.drugbank.ca/drugs/DB00126 EMBL AC135457 http://www.ebi.ac.uk/ena/data/view/AC135457 EMBL AF058317 http://www.ebi.ac.uk/ena/data/view/AF058317 EMBL AF098277 http://www.ebi.ac.uk/ena/data/view/AF098277 EMBL AF170911 http://www.ebi.ac.uk/ena/data/view/AF170911 EMBL AF375875 http://www.ebi.ac.uk/ena/data/view/AF375875 EMBL AJ250807 http://www.ebi.ac.uk/ena/data/view/AJ250807 EMBL AJ269477 http://www.ebi.ac.uk/ena/data/view/AJ269477 EMBL BC019225 http://www.ebi.ac.uk/ena/data/view/BC019225 EMBL BC050261 http://www.ebi.ac.uk/ena/data/view/BC050261 Ensembl ENST00000348729 http://www.ensembl.org/id/ENST00000348729 Ensembl ENST00000353963 http://www.ensembl.org/id/ENST00000353963 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0009925 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009925 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:0043229 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043229 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0008520 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008520 GO_function GO:0015081 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015081 GO_function GO:0015205 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015205 GO_function GO:0015229 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015229 GO_function GO:0033300 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033300 GO_function GO:0070890 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070890 GO_process GO:0006139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006139 GO_process GO:0006814 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006814 GO_process GO:0007420 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007420 GO_process GO:0009636 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009636 GO_process GO:0015851 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015851 GO_process GO:0015882 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015882 GO_process GO:0019852 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019852 GO_process GO:0030324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030324 GO_process GO:0070837 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070837 GO_process GO:0070904 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070904 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0005975 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005975 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GeneCards SLC23A1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC23A1 GeneID 9963 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=9963 HGNC HGNC:10974 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10974 HOGENOM HOG000038201 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000038201&db=HOGENOM6 HOVERGEN HBG056256 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG056256&db=HOVERGEN HPA HPA047612 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA047612 InParanoid Q9UHI7 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9UHI7 IntAct Q9UHI7 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9UHI7* InterPro IPR006043 http://www.ebi.ac.uk/interpro/entry/IPR006043 InterPro IPR029954 http://www.ebi.ac.uk/interpro/entry/IPR029954 Jabion 9963 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=9963 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:9963 http://www.genome.jp/dbget-bin/www_bget?hsa:9963 KEGG_Orthology KO:K14611 http://www.genome.jp/dbget-bin/www_bget?KO:K14611 MIM 603790 http://www.ncbi.nlm.nih.gov/omim/603790 OrthoDB EOG091G063Y http://cegg.unige.ch/orthodb/results?searchtext=EOG091G063Y PANTHER PTHR11119 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11119 PANTHER PTHR11119:SF21 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11119:SF21 PSORT swissprot:S23A1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S23A1_HUMAN PSORT-B swissprot:S23A1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S23A1_HUMAN PSORT2 swissprot:S23A1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S23A1_HUMAN Pfam PF00860 http://pfam.xfam.org/family/PF00860 PharmGKB PA35850 http://www.pharmgkb.org/do/serve?objId=PA35850&objCls=Gene Phobius swissprot:S23A1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S23A1_HUMAN PhylomeDB Q9UHI7 http://phylomedb.org/?seqid=Q9UHI7 ProteinModelPortal Q9UHI7 http://www.proteinmodelportal.org/query/uniprot/Q9UHI7 PubMed 10556483 http://www.ncbi.nlm.nih.gov/pubmed/10556483 PubMed 10556521 http://www.ncbi.nlm.nih.gov/pubmed/10556521 PubMed 10631088 http://www.ncbi.nlm.nih.gov/pubmed/10631088 PubMed 11396616 http://www.ncbi.nlm.nih.gov/pubmed/11396616 PubMed 11584081 http://www.ncbi.nlm.nih.gov/pubmed/11584081 PubMed 15372022 http://www.ncbi.nlm.nih.gov/pubmed/15372022 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 19379732 http://www.ncbi.nlm.nih.gov/pubmed/19379732 PubMed 9804989 http://www.ncbi.nlm.nih.gov/pubmed/9804989 Reactome R-HSA-196836 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-196836 RefSeq NP_005838 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_005838 RefSeq NP_689898 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_689898 STRING 9606.ENSP00000302851 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000302851&targetmode=cogs TCDB 2.A.40.6 http://www.tcdb.org/search/result.php?tc=2.A.40.6 UCSC uc003leg http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003leg&org=rat UniGene Hs.643467 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.643467 UniProtKB S23A1_HUMAN http://www.uniprot.org/uniprot/S23A1_HUMAN UniProtKB-AC Q9UHI7 http://www.uniprot.org/uniprot/Q9UHI7 charge swissprot:S23A1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S23A1_HUMAN eggNOG COG2233 http://eggnogapi.embl.de/nog_data/html/tree/COG2233 eggNOG KOG1292 http://eggnogapi.embl.de/nog_data/html/tree/KOG1292 epestfind swissprot:S23A1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S23A1_HUMAN garnier swissprot:S23A1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S23A1_HUMAN helixturnhelix swissprot:S23A1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S23A1_HUMAN hmoment swissprot:S23A1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S23A1_HUMAN iep swissprot:S23A1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S23A1_HUMAN inforesidue swissprot:S23A1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S23A1_HUMAN neXtProt NX_Q9UHI7 http://www.nextprot.org/db/entry/NX_Q9UHI7 octanol swissprot:S23A1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S23A1_HUMAN pepcoil swissprot:S23A1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S23A1_HUMAN pepdigest swissprot:S23A1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S23A1_HUMAN pepinfo swissprot:S23A1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S23A1_HUMAN pepnet swissprot:S23A1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S23A1_HUMAN pepstats swissprot:S23A1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S23A1_HUMAN pepwheel swissprot:S23A1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S23A1_HUMAN pepwindow swissprot:S23A1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S23A1_HUMAN sigcleave swissprot:S23A1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S23A1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS PK1L1_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8TDX9-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q8TDX9-2; Sequence=VSP_013215, VSP_013216; Note=No experimental confirmation available.; # AltName PK1L1_HUMAN PC1-like 1 protein # AltName PK1L1_HUMAN Polycystin-1L1 # CCDS CCDS34633 -. [Q8TDX9-1] # Ensembl ENST00000289672 ENSP00000289672; ENSG00000158683. [Q8TDX9-1] # ExpressionAtlas Q8TDX9 baseline and differential # FUNCTION PK1L1_HUMAN Component of a ciliary calcium channel that controls calcium concentration within primary cilia without affecting cytoplasmic calcium concentration. Forms a heterodimer with PKD2L1 in primary cilia and forms a calcium-permeant ciliary channel that regulates sonic hedgehog/SHH signaling and GLI2 transcription. Does not constitute the pore-forming subunit. Also involved in left/right axis specification downstream of nodal flow forms a complex with PKD2 in cilia to facilitate flow detection in left/right patterning. {ECO 0000269|PubMed 24336289}. # GO_component GO:0005929 cilium; ISS:BHF-UCL. # GO_component GO:0016020 membrane; TAS:UniProtKB. # GO_component GO:0034704 calcium channel complex; IDA:UniProtKB. # GO_component GO:0060170 ciliary membrane; IEA:UniProtKB-SubCell. # GO_component GO:0097730 non-motile cilium; IDA:UniProtKB. # GO_function GO:0005262 calcium channel activity; IDA:UniProtKB. # GO_process GO:0003127 detection of nodal flow; ISS:BHF-UCL. # GO_process GO:0016337 single organismal cell-cell adhesion; NAS:UniProtKB. # GO_process GO:0050982 detection of mechanical stimulus; IBA:GO_Central. # GO_process GO:0070986 left/right axis specification; ISS:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005929 cilium # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0007155 cell adhesion # GOslim_process GO:0008150 biological_process # Gene3D 2.60.40.670 -; 1. # Gene3D 2.60.60.20 -; 1. # Genevisible Q8TDX9 HS # HGNC HGNC:18053 PKD1L1 # InterPro IPR000601 PKD_dom # InterPro IPR001024 PLAT/LH2_dom # InterPro IPR002859 PKD/REJ-like # InterPro IPR013122 PKD1_2_channel # InterPro IPR014010 REJ_dom # InterPro IPR022409 PKD/Chitinase_dom # KEGG_Brite ko04040 Ion channels # MIM 609721 gene # Organism PK1L1_HUMAN Homo sapiens (Human) # PROSITE PS50093 PKD # PROSITE PS50095 PLAT # PROSITE PS51111 REJ # Pfam PF00801 PKD # Pfam PF01477 PLAT # Pfam PF02010 REJ # Pfam PF08016 PKD_channel # Proteomes UP000005640 Chromosome 7 # RecName PK1L1_HUMAN Polycystic kidney disease protein 1-like 1 # RefSeq NP_612152 NM_138295.3. [Q8TDX9-1] # SEQUENCE CAUTION Sequence=AAQ89117.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the polycystin family. {ECO 0000305}. # SIMILARITY Contains 1 GPS domain. {ECO 0000305}. # SIMILARITY Contains 1 PLAT domain. {ECO:0000255|PROSITE- ProRule PRU00152}. # SIMILARITY Contains 1 REJ domain. {ECO:0000255|PROSITE- ProRule PRU00511}. # SIMILARITY Contains 2 PKD domains. {ECO:0000255|PROSITE- ProRule PRU00151}. # SMART SM00089 PKD; 2 # SMART SM00308 LH2 # SUBCELLULAR LOCATION PK1L1_HUMAN Cell projection, cilium membrane {ECO 0000269|PubMed 24336289}; Multi-pass membrane protein {ECO 0000269|PubMed 24336289}. # SUBUNIT Heterodimer; heterodimerizes with PKD2 proteins to form a calcium channel. Interacts with PKD2L1; to form ciliary calcium channel. Interacts with PKD2. {ECO:0000269|PubMed 24336289}. # SUPFAM SSF49299 SSF49299 # SUPFAM SSF49723 SSF49723 # TCDB 1.A.5.1 the polycystin cation channel (pcc) family # TISSUE SPECIFICITY PK1L1_HUMAN Detected in testis and in fetal and adult heart. # UCSC uc003tny human. [Q8TDX9-1] # eggNOG ENOG410IQ5F Eukaryota # eggNOG ENOG410ZBZ7 LUCA BLAST swissprot:PK1L1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:PK1L1_HUMAN BioCyc ZFISH:ENSG00000158683-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000158683-MONOMER COXPRESdb 168507 http://coxpresdb.jp/data/gene/168507.shtml CleanEx HS_PKD1L1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_PKD1L1 DOI 10.1006/geno.2002.6719 http://dx.doi.org/10.1006/geno.2002.6719 DOI 10.1016/j.ajhg.2010.08.015 http://dx.doi.org/10.1016/j.ajhg.2010.08.015 DOI 10.1038/nature12832 http://dx.doi.org/10.1038/nature12832 DOI 10.1101/gr.1293003 http://dx.doi.org/10.1101/gr.1293003 EMBL AB061683 http://www.ebi.ac.uk/ena/data/view/AB061683 EMBL AY358757 http://www.ebi.ac.uk/ena/data/view/AY358757 Ensembl ENST00000289672 http://www.ensembl.org/id/ENST00000289672 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005929 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005929 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0034704 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034704 GO_component GO:0060170 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060170 GO_component GO:0097730 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097730 GO_function GO:0005262 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005262 GO_process GO:0003127 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003127 GO_process GO:0016337 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016337 GO_process GO:0050982 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050982 GO_process GO:0070986 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070986 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005929 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005929 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0007155 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007155 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 Gene3D 2.60.40.670 http://www.cathdb.info/version/latest/superfamily/2.60.40.670 Gene3D 2.60.60.20 http://www.cathdb.info/version/latest/superfamily/2.60.60.20 GeneCards PKD1L1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=PKD1L1 GeneID 168507 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=168507 GeneTree ENSGT00700000104221 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00700000104221 HGNC HGNC:18053 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:18053 HOGENOM HOG000115551 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000115551&db=HOGENOM6 HOVERGEN HBG053602 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG053602&db=HOVERGEN HPA HPA020422 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA020422 HPA HPA022424 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA022424 InParanoid Q8TDX9 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8TDX9 InterPro IPR000601 http://www.ebi.ac.uk/interpro/entry/IPR000601 InterPro IPR001024 http://www.ebi.ac.uk/interpro/entry/IPR001024 InterPro IPR002859 http://www.ebi.ac.uk/interpro/entry/IPR002859 InterPro IPR013122 http://www.ebi.ac.uk/interpro/entry/IPR013122 InterPro IPR014010 http://www.ebi.ac.uk/interpro/entry/IPR014010 InterPro IPR022409 http://www.ebi.ac.uk/interpro/entry/IPR022409 Jabion 168507 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=168507 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:168507 http://www.genome.jp/dbget-bin/www_bget?hsa:168507 KEGG_Orthology KO:K04987 http://www.genome.jp/dbget-bin/www_bget?KO:K04987 MIM 609721 http://www.ncbi.nlm.nih.gov/omim/609721 MINT MINT-5002126 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-5002126 OMA KNMGPGK http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=KNMGPGK OrthoDB EOG091G004D http://cegg.unige.ch/orthodb/results?searchtext=EOG091G004D PROSITE PS50093 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50093 PROSITE PS50095 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50095 PROSITE PS51111 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51111 PSORT swissprot:PK1L1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:PK1L1_HUMAN PSORT-B swissprot:PK1L1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:PK1L1_HUMAN PSORT2 swissprot:PK1L1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:PK1L1_HUMAN Pfam PF00801 http://pfam.xfam.org/family/PF00801 Pfam PF01477 http://pfam.xfam.org/family/PF01477 Pfam PF02010 http://pfam.xfam.org/family/PF02010 Pfam PF08016 http://pfam.xfam.org/family/PF08016 PharmGKB PA38282 http://www.pharmgkb.org/do/serve?objId=PA38282&objCls=Gene Phobius swissprot:PK1L1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:PK1L1_HUMAN PhylomeDB Q8TDX9 http://phylomedb.org/?seqid=Q8TDX9 ProteinModelPortal Q8TDX9 http://www.proteinmodelportal.org/query/uniprot/Q8TDX9 PubMed 11863367 http://www.ncbi.nlm.nih.gov/pubmed/11863367 PubMed 12975309 http://www.ncbi.nlm.nih.gov/pubmed/12975309 PubMed 20869035 http://www.ncbi.nlm.nih.gov/pubmed/20869035 PubMed 24336289 http://www.ncbi.nlm.nih.gov/pubmed/24336289 RefSeq NP_612152 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_612152 SMART SM00089 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00089 SMART SM00308 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00308 STRING 9606.ENSP00000289672 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000289672&targetmode=cogs SUPFAM SSF49299 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF49299 SUPFAM SSF49723 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF49723 TCDB 1.A.5.1 http://www.tcdb.org/search/result.php?tc=1.A.5.1 UCSC uc003tny http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003tny&org=rat UniGene Hs.195979 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.195979 UniProtKB PK1L1_HUMAN http://www.uniprot.org/uniprot/PK1L1_HUMAN UniProtKB-AC Q8TDX9 http://www.uniprot.org/uniprot/Q8TDX9 charge swissprot:PK1L1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:PK1L1_HUMAN eggNOG ENOG410IQ5F http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IQ5F eggNOG ENOG410ZBZ7 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410ZBZ7 epestfind swissprot:PK1L1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:PK1L1_HUMAN garnier swissprot:PK1L1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:PK1L1_HUMAN helixturnhelix swissprot:PK1L1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:PK1L1_HUMAN hmoment swissprot:PK1L1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:PK1L1_HUMAN iep swissprot:PK1L1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:PK1L1_HUMAN inforesidue swissprot:PK1L1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:PK1L1_HUMAN neXtProt NX_Q8TDX9 http://www.nextprot.org/db/entry/NX_Q8TDX9 octanol swissprot:PK1L1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:PK1L1_HUMAN pepcoil swissprot:PK1L1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:PK1L1_HUMAN pepdigest swissprot:PK1L1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:PK1L1_HUMAN pepinfo swissprot:PK1L1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:PK1L1_HUMAN pepnet swissprot:PK1L1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:PK1L1_HUMAN pepstats swissprot:PK1L1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:PK1L1_HUMAN pepwheel swissprot:PK1L1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:PK1L1_HUMAN pepwindow swissprot:PK1L1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:PK1L1_HUMAN sigcleave swissprot:PK1L1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:PK1L1_HUMAN ## Database ID URL or Descriptions # AltName VATG1_HUMAN V-ATPase 13 kDa subunit 1 # AltName VATG1_HUMAN Vacuolar proton pump subunit G 1 # AltName VATG1_HUMAN Vacuolar proton pump subunit M16 # BioGrid 114922 26 # ChiTaRS ATP6V1G1 human # Ensembl ENST00000374050 ENSP00000363162; ENSG00000136888 # ExpressionAtlas O75348 baseline and differential # FUNCTION VATG1_HUMAN Catalytic subunit of the peripheral V1 complex of vacuolar ATPase (V-ATPase). V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. # GO_component GO:0005765 lysosomal membrane; IDA:UniProtKB. # GO_component GO:0005829 cytosol; ISS:UniProtKB. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0016471 vacuolar proton-transporting V-type ATPase complex; IEA:Ensembl. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0008553 hydrogen-exporting ATPase activity, phosphorylative mechanism; IEA:Ensembl. # GO_function GO:0051117 ATPase binding; IPI:UniProtKB. # GO_process GO:0008286 insulin receptor signaling pathway; TAS:Reactome. # GO_process GO:0016241 regulation of macroautophagy; NAS:ParkinsonsUK-UCL. # GO_process GO:0033572 transferrin transport; TAS:Reactome. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0090383 phagosome acidification; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005829 cytosol # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0019899 enzyme binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Genevisible O75348 HS # HGNC HGNC:864 ATP6V1G1 # INTERACTION VATG1_HUMAN Q96A05 ATP6V1E2; NbExp=6; IntAct=EBI-711802, EBI-8650380; Q08379 GOLGA2; NbExp=3; IntAct=EBI-711802, EBI-618309; O95751 LDOC1; NbExp=3; IntAct=EBI-711802, EBI-740738; P43360 MAGEA6; NbExp=3; IntAct=EBI-711802, EBI-1045155; # IntAct O75348 37 # InterPro IPR005124 V-ATPase_G # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Brite ko01000 Enzymes # KEGG_Pathway ko00190 Oxidative phosphorylation # KEGG_Pathway ko04145 Phagosome # KEGG_Pathway ko04721 Synaptic vesicle cycle # KEGG_Pathway ko04966 Collecting duct acid secretion # KEGG_Pathway ko05110 Vibrio cholerae infection # KEGG_Pathway ko05120 Epithelial cell signaling in Helicobacter pylori infection # KEGG_Pathway ko05323 Rheumatoid arthritis # MIM 607296 gene # Organism VATG1_HUMAN Homo sapiens (Human) # PANTHER PTHR12713 PTHR12713 # Proteomes UP000005640 Chromosome 9 # Reactome R-HSA-1222556 ROS, RNS production in response to bacteria # Reactome R-HSA-77387 Insulin receptor recycling # Reactome R-HSA-917977 Transferrin endocytosis and recycling # Reactome R-HSA-983712 Ion channel transport # RecName VATG1_HUMAN V-type proton ATPase subunit G 1 # RefSeq NP_004879 NM_004888.3 # SIMILARITY Belongs to the V-ATPase G subunit family. {ECO 0000305}. # SUBUNIT V-ATPase is a heteromultimeric enzyme composed of a peripheral catalytic V1 complex (components A to H) attached to an integral membrane V0 proton pore complex (components a, c, c', c'' and d). # TCDB 3.A.2.2 the h(+)- or na(+)-translocating f-type, v-type and a-type atpase (f-atpase) superfamily # TIGRFAMs TIGR01147 V_ATP_synt_G # TISSUE SPECIFICITY Ubiquitous. {ECO:0000269|PubMed 12384298}. # UCSC uc004bjc human # eggNOG ENOG4111XX0 LUCA # eggNOG KOG1772 Eukaryota BLAST swissprot:VATG1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:VATG1_HUMAN BioCyc MetaCyc:HS06241-MONOMER http://biocyc.org/getid?id=MetaCyc:HS06241-MONOMER BioCyc ZFISH:HS06241-MONOMER http://biocyc.org/getid?id=ZFISH:HS06241-MONOMER COXPRESdb 9550 http://coxpresdb.jp/data/gene/9550.shtml CleanEx HS_ATP6V1G1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ATP6V1G1 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1016/S0378-1119(02)00884-3 http://dx.doi.org/10.1016/S0378-1119(02)00884-3 DOI 10.1038/nature02465 http://dx.doi.org/10.1038/nature02465 DOI 10.1073/pnas.95.14.8175 http://dx.doi.org/10.1073/pnas.95.14.8175 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AF038954 http://www.ebi.ac.uk/ena/data/view/AF038954 EMBL AL160275 http://www.ebi.ac.uk/ena/data/view/AL160275 EMBL BC008452 http://www.ebi.ac.uk/ena/data/view/BC008452 EMBL CH471090 http://www.ebi.ac.uk/ena/data/view/CH471090 EMBL CR456971 http://www.ebi.ac.uk/ena/data/view/CR456971 EMBL CR542237 http://www.ebi.ac.uk/ena/data/view/CR542237 Ensembl ENST00000374050 http://www.ensembl.org/id/ENST00000374050 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005765 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005765 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016471 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016471 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0008553 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008553 GO_function GO:0051117 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051117 GO_process GO:0008286 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008286 GO_process GO:0016241 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016241 GO_process GO:0033572 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033572 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0090383 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090383 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards ATP6V1G1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ATP6V1G1 GeneID 9550 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=9550 GeneTree ENSGT00390000011172 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000011172 HGNC HGNC:864 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:864 HOGENOM HOG000186416 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000186416&db=HOGENOM6 HOVERGEN HBG057827 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG057827&db=HOVERGEN HPA CAB004615 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB004615 HPA HPA042898 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA042898 InParanoid O75348 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O75348 IntAct O75348 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O75348* InterPro IPR005124 http://www.ebi.ac.uk/interpro/entry/IPR005124 Jabion 9550 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=9550 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00002 http://www.genome.jp/dbget-bin/www_bget?ko00002 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Gene hsa:9550 http://www.genome.jp/dbget-bin/www_bget?hsa:9550 KEGG_Orthology KO:K02152 http://www.genome.jp/dbget-bin/www_bget?KO:K02152 KEGG_Pathway ko00190 http://www.genome.jp/kegg-bin/show_pathway?ko00190 KEGG_Pathway ko04145 http://www.genome.jp/kegg-bin/show_pathway?ko04145 KEGG_Pathway ko04721 http://www.genome.jp/kegg-bin/show_pathway?ko04721 KEGG_Pathway ko04966 http://www.genome.jp/kegg-bin/show_pathway?ko04966 KEGG_Pathway ko05110 http://www.genome.jp/kegg-bin/show_pathway?ko05110 KEGG_Pathway ko05120 http://www.genome.jp/kegg-bin/show_pathway?ko05120 KEGG_Pathway ko05323 http://www.genome.jp/kegg-bin/show_pathway?ko05323 MIM 607296 http://www.ncbi.nlm.nih.gov/omim/607296 MINT MINT-5001706 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-5001706 OMA QPEFHAN http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=QPEFHAN OrthoDB EOG091G0XIZ http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0XIZ PANTHER PTHR12713 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12713 PSORT swissprot:VATG1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:VATG1_HUMAN PSORT-B swissprot:VATG1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:VATG1_HUMAN PSORT2 swissprot:VATG1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:VATG1_HUMAN PharmGKB PA25163 http://www.pharmgkb.org/do/serve?objId=PA25163&objCls=Gene Phobius swissprot:VATG1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:VATG1_HUMAN PhylomeDB O75348 http://phylomedb.org/?seqid=O75348 ProteinModelPortal O75348 http://www.proteinmodelportal.org/query/uniprot/O75348 PubMed 12384298 http://www.ncbi.nlm.nih.gov/pubmed/12384298 PubMed 15164053 http://www.ncbi.nlm.nih.gov/pubmed/15164053 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 9653160 http://www.ncbi.nlm.nih.gov/pubmed/9653160 Reactome R-HSA-1222556 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1222556 Reactome R-HSA-77387 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-77387 Reactome R-HSA-917977 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-917977 Reactome R-HSA-983712 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-983712 RefSeq NP_004879 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004879 SMR O75348 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=O75348 STRING 9606.ENSP00000363162 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000363162&targetmode=cogs TCDB 3.A.2.2 http://www.tcdb.org/search/result.php?tc=3.A.2.2 TIGRFAMs TIGR01147 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01147 UCSC uc004bjc http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc004bjc&org=rat UniGene Hs.388654 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.388654 UniProtKB VATG1_HUMAN http://www.uniprot.org/uniprot/VATG1_HUMAN UniProtKB-AC O75348 http://www.uniprot.org/uniprot/O75348 charge swissprot:VATG1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:VATG1_HUMAN eggNOG ENOG4111XX0 http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111XX0 eggNOG KOG1772 http://eggnogapi.embl.de/nog_data/html/tree/KOG1772 epestfind swissprot:VATG1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:VATG1_HUMAN garnier swissprot:VATG1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:VATG1_HUMAN helixturnhelix swissprot:VATG1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:VATG1_HUMAN hmoment swissprot:VATG1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:VATG1_HUMAN iep swissprot:VATG1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:VATG1_HUMAN inforesidue swissprot:VATG1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:VATG1_HUMAN neXtProt NX_O75348 http://www.nextprot.org/db/entry/NX_O75348 octanol swissprot:VATG1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:VATG1_HUMAN pepcoil swissprot:VATG1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:VATG1_HUMAN pepdigest swissprot:VATG1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:VATG1_HUMAN pepinfo swissprot:VATG1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:VATG1_HUMAN pepnet swissprot:VATG1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:VATG1_HUMAN pepstats swissprot:VATG1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:VATG1_HUMAN pepwheel swissprot:VATG1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:VATG1_HUMAN pepwindow swissprot:VATG1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:VATG1_HUMAN sigcleave swissprot:VATG1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:VATG1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS CAC1A_HUMAN Event=Alternative splicing; Named isoforms=7; Comment=Additional isoforms seem to exist.; Name=1; Synonyms=1A-1, BI-1-GGCAG; IsoId=O00555-1; Sequence=Displayed; Name=2; Synonyms=1A-2,BI-1; IsoId=O00555-2; Sequence=VSP_000875; Name=3; Synonyms=BI-1(V1); IsoId=O00555-3; Sequence=VSP_000871, VSP_000875; Name=4; Synonyms=BI-1(V1)-GGCAG; IsoId=O00555-4; Sequence=VSP_000871; Name=5; Synonyms=BI-1(V2); IsoId=O00555-5; Sequence=VSP_000872, VSP_000875; Name=6; Synonyms=BI-1(V2)-GGCAG; IsoId=O00555-6; Sequence=VSP_000872; Name=8; IsoId=O00555-8; Sequence=VSP_046165, VSP_046166; # AltName CAC1A_HUMAN Brain calcium channel I # AltName CAC1A_HUMAN Calcium channel, L type, alpha-1 polypeptide isoform 4 # AltName CAC1A_HUMAN Voltage-gated calcium channel subunit alpha Cav2.1 # BioGrid 107227 98 # CCDS CCDS45998 -. [O00555-8] # CCDS CCDS45999 -. [O00555-3] # ChiTaRS CACNA1A human # DISEASE CAC1A_HUMAN Episodic ataxia 2 (EA2) [MIM 108500] An autosomal dominant disorder characterized by acetozolamide-responsive attacks of ataxia, migraine-like symptoms, interictal nystagmus, and cerebellar atrophy. {ECO 0000269|PubMed 10987655, ECO 0000269|PubMed 11176968, ECO 0000269|PubMed 11723274, ECO 0000269|PubMed 12420090, ECO 0000269|PubMed 14718690, ECO 0000269|PubMed 15173248, ECO 0000269|PubMed 15293273, ECO 0000269|PubMed 18602318, ECO 0000269|PubMed 19232643, ECO 0000269|PubMed 20129625, ECO 0000269|PubMed 21696515, ECO 0000269|PubMed 8898206, ECO 0000269|PubMed 9302278}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE CAC1A_HUMAN Migraine, familial hemiplegic, 1 (FHM1) [MIM 141500] A subtype of migraine with aura associated with ictal hemiparesis and, in some families, cerebellar ataxia and atrophy. Migraine is a disabling symptom complex of periodic headaches, usually temporal and unilateral. Headaches are often accompanied by irritability, nausea, vomiting and photophobia, preceded by constriction of the cranial arteries. Migraine with aura is characterized by recurrent attacks of reversible neurological symptoms (aura) that precede or accompany the headache. Aura may include a combination of sensory disturbances, such as blurred vision, hallucinations, vertigo, numbness and difficulty in concentrating and speaking. {ECO 0000269|PubMed 10408532, ECO 0000269|PubMed 11409427, ECO 0000269|PubMed 11439943, ECO 0000269|PubMed 15032980, ECO 0000269|PubMed 18400034, ECO 0000269|PubMed 8898206}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE CAC1A_HUMAN Spinocerebellar ataxia 6 (SCA6) [MIM 183086] Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA6 is an autosomal dominant cerebellar ataxia (ADCA), mainly caused by expansion of a CAG repeat in the coding region of CACNA1A. There seems to be a correlation between the repeat number and earlier onset of the disorder. {ECO 0000269|PubMed 16325861, ECO 0000269|PubMed 20682717, ECO 0000269|PubMed 8988170, ECO 0000269|PubMed 9345107}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DOMAIN CAC1A_HUMAN Each of the four internal repeats contains five hydrophobic transmembrane segments (S1, S2, S3, S5, S6) and one positively charged transmembrane segment (S4). S4 segments probably represent the voltage-sensor and are characterized by a series of positively charged amino acids at every third position. # DrugBank DB00230 Pregabalin # DrugBank DB00421 Spironolactone # DrugBank DB00661 Verapamil # DrugBank DB00836 Loperamide # DrugBank DB01244 Bepridil # Ensembl ENST00000360228 ENSP00000353362; ENSG00000141837. [O00555-8] # Ensembl ENST00000635895 ENSP00000490323; ENSG00000141837. [O00555-2] # Ensembl ENST00000637276 ENSP00000489777; ENSG00000141837. [O00555-5] # Ensembl ENST00000638009 ENSP00000489913; ENSG00000141837. [O00555-3] # ExpressionAtlas O00555 baseline and differential # FUNCTION CAC1A_HUMAN Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1A gives rise to P and/or Q-type calcium currents. P/Q-type calcium channels belong to the 'high-voltage activated' (HVA) group and are blocked by the funnel toxin (Ftx) and by the omega-agatoxin- IVA (omega-Aga-IVA). They are however insensitive to dihydropyridines (DHP), and omega-conotoxin-GVIA (omega-CTx-GVIA). # GO_component GO:0005634 nucleus; IDA:UniProtKB. # GO_component GO:0005737 cytoplasm; IDA:UniProtKB. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0005891 voltage-gated calcium channel complex; IEA:Ensembl. # GO_component GO:0016021 integral component of membrane; NAS:UniProtKB. # GO_component GO:0030425 dendrite; IEA:Ensembl. # GO_component GO:0042995 cell projection; IDA:UniProtKB. # GO_component GO:0043025 neuronal cell body; IEA:Ensembl. # GO_component GO:0098793 presynapse; IEA:GOC. # GO_function GO:0005245 voltage-gated calcium channel activity; IDA:UniProtKB. # GO_function GO:0005262 calcium channel activity; TAS:Reactome. # GO_function GO:0008331 high voltage-gated calcium channel activity; IBA:GO_Central. # GO_function GO:0019905 syntaxin binding; IDA:UniProtKB. # GO_function GO:0046872 metal ion binding; IEA:UniProtKB-KW. # GO_process GO:0000096 sulfur amino acid metabolic process; IEA:Ensembl. # GO_process GO:0006006 glucose metabolic process; IEA:Ensembl. # GO_process GO:0007204 positive regulation of cytosolic calcium ion concentration; IDA:UniProtKB. # GO_process GO:0007214 gamma-aminobutyric acid signaling pathway; IEA:Ensembl. # GO_process GO:0007274 neuromuscular synaptic transmission; IEA:Ensembl. # GO_process GO:0007416 synapse assembly; IEA:Ensembl. # GO_process GO:0007628 adult walking behavior; IEA:Ensembl. # GO_process GO:0008219 cell death; IDA:UniProtKB. # GO_process GO:0014051 gamma-aminobutyric acid secretion; IEA:Ensembl. # GO_process GO:0014056 regulation of acetylcholine secretion, neurotransmission; IEA:Ensembl. # GO_process GO:0016049 cell growth; IEA:Ensembl. # GO_process GO:0017158 regulation of calcium ion-dependent exocytosis; IEA:Ensembl. # GO_process GO:0019226 transmission of nerve impulse; IEA:Ensembl. # GO_process GO:0021522 spinal cord motor neuron differentiation; IEA:Ensembl. # GO_process GO:0021590 cerebellum maturation; IEA:Ensembl. # GO_process GO:0021679 cerebellar molecular layer development; IEA:Ensembl. # GO_process GO:0021702 cerebellar Purkinje cell differentiation; IEA:Ensembl. # GO_process GO:0021750 vestibular nucleus development; IEA:Ensembl. # GO_process GO:0030644 cellular chloride ion homeostasis; IEA:Ensembl. # GO_process GO:0032353 negative regulation of hormone biosynthetic process; IEA:Ensembl. # GO_process GO:0035249 synaptic transmission, glutamatergic; IEA:Ensembl. # GO_process GO:0042133 neurotransmitter metabolic process; IEA:Ensembl. # GO_process GO:0042445 hormone metabolic process; IEA:Ensembl. # GO_process GO:0043113 receptor clustering; IEA:Ensembl. # GO_process GO:0043524 negative regulation of neuron apoptotic process; IEA:Ensembl. # GO_process GO:0048266 behavioral response to pain; IEA:Ensembl. # GO_process GO:0048791 calcium ion-regulated exocytosis of neurotransmitter; IEA:Ensembl. # GO_process GO:0048813 dendrite morphogenesis; IEA:Ensembl. # GO_process GO:0050770 regulation of axonogenesis; IEA:Ensembl. # GO_process GO:0050796 regulation of insulin secretion; TAS:Reactome. # GO_process GO:0050883 musculoskeletal movement, spinal reflex action; IEA:Ensembl. # GO_process GO:0050885 neuromuscular process controlling balance; IEA:Ensembl. # GO_process GO:0051899 membrane depolarization; TAS:Reactome. # GO_process GO:0060024 rhythmic synaptic transmission; IEA:Ensembl. # GO_process GO:0086010 membrane depolarization during action potential; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0005975 carbohydrate metabolic process # GOslim_process GO:0006520 cellular amino acid metabolic process # GOslim_process GO:0006790 sulfur compound metabolic process # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # GOslim_process GO:0008219 cell death # GOslim_process GO:0016192 vesicle-mediated transport # GOslim_process GO:0021700 developmental maturation # GOslim_process GO:0022607 cellular component assembly # GOslim_process GO:0030154 cell differentiation # GOslim_process GO:0040007 growth # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0044281 small molecule metabolic process # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0050877 neurological system process # GOslim_process GO:0061024 membrane organization # Gene3D 1.20.120.350 -; 4. # Genevisible O00555 HS # HGNC HGNC:1388 CACNA1A # INTERACTION CAC1A_HUMAN Q8IZP0 ABI1; NbExp=2; IntAct=EBI-766279, EBI-375446; O94910 ADGRL1; NbExp=2; IntAct=EBI-766279, EBI-3389315; Q86SJ2 AMIGO2; NbExp=2; IntAct=EBI-766279, EBI-3866830; Q7Z5H3 ARHGAP22; NbExp=2; IntAct=EBI-766279, EBI-3866859; P67870 CSNK2B; NbExp=2; IntAct=EBI-766279, EBI-348169; O75953 DNAJB5; NbExp=2; IntAct=EBI-766279, EBI-5655937; P28799 GRN; NbExp=2; IntAct=EBI-766279, EBI-747754; P15822 HIVEP1; NbExp=2; IntAct=EBI-766279, EBI-722264; Q8N2S1 LTBP4; NbExp=2; IntAct=EBI-766279, EBI-947718; O00339 MATN2; NbExp=2; IntAct=EBI-766279, EBI-949020; O75095 MEGF6; NbExp=2; IntAct=EBI-766279, EBI-947597; Q7Z7M0 MEGF8; NbExp=2; IntAct=EBI-766279, EBI-947617; Q9UHX1 PUF60; NbExp=2; IntAct=EBI-766279, EBI-1053259; Q8IXT5 RBM12B; NbExp=2; IntAct=EBI-766279, EBI-3044077; O95153 TSPOAP1; NbExp=2; IntAct=EBI-766279, EBI-5915931; Q9BVA1 TUBB2B; NbExp=2; IntAct=EBI-766279, EBI-355665; P22695 UQCRC2; NbExp=2; IntAct=EBI-766279, EBI-1051424; P49750 YLPM1; NbExp=2; IntAct=EBI-766279, EBI-712871; # IntAct O00555 92 # InterPro IPR002077 VDCCAlpha1 # InterPro IPR005448 CACNA1A # InterPro IPR005821 Ion_trans_dom # InterPro IPR014873 VDCC_a1su_IQ # InterPro IPR027359 Channel_four-helix_dom # InterPro IPR031649 GPHH_dom # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00063 [Neurodegenerative disease] Spinocerebellar ataxia (SCA) # KEGG_Disease H00749 [Nervous system disease] Episodic ataxias # KEGG_Disease H00775 [Nervous system disease] Familial or sporadic hemiplegic migraine # KEGG_Pathway ko04010 MAPK signaling pathway # KEGG_Pathway ko04020 Calcium signaling pathway # KEGG_Pathway ko04721 Synaptic vesicle cycle # KEGG_Pathway ko04723 Retrograde endocannabinoid signaling # KEGG_Pathway ko04724 Glutamatergic synapse # KEGG_Pathway ko04725 Cholinergic synapse # KEGG_Pathway ko04726 Serotonergic synapse # KEGG_Pathway ko04727 GABAergic synapse # KEGG_Pathway ko04728 Dopaminergic synapse # KEGG_Pathway ko04730 Long-term depression # KEGG_Pathway ko04742 Taste transduction # KEGG_Pathway ko04930 Type II diabetes mellitus # KEGG_Pathway ko05032 Morphine addiction # KEGG_Pathway ko05033 Nicotine addiction # MIM 108500 phenotype # MIM 141500 phenotype # MIM 183086 phenotype # MIM 601011 gene # Organism CAC1A_HUMAN Homo sapiens (Human) # Orphanet 2131 Alternating hemiplegia of childhood # Orphanet 569 Familial or sporadic hemiplegic migraine # Orphanet 71518 Benign paroxysmal torticollis of infancy # Orphanet 97 Familial paroxysmal ataxia # Orphanet 98758 Spinocerebellar ataxia type 6 # PANTHER PTHR10037:SF59 PTHR10037:SF59; 3 # PDB 3BXK X-ray; 2.55 A; B/D=1955-1975 # POLYMORPHISM The poly-Gln region of CACNA1A is polymorphic: 6 to 17 repeats in the normal population, expanded to about 21 to 30 repeats in SCA6. Repeat expansion has been reported also in a EA2 family. {ECO 0000269|PubMed:9302278}. # PRINTS PR00167 CACHANNEL # PRINTS PR01632 PQVDCCALPHA1 # Pfam PF00520 Ion_trans; 4 # Pfam PF08763 Ca_chan_IQ # Pfam PF16905 GPHH # Proteomes UP000005640 Chromosome 19 # Reactome R-HSA-112308 Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels # Reactome R-HSA-422356 Regulation of insulin secretion # RecName CAC1A_HUMAN Voltage-dependent P/Q-type calcium channel subunit alpha-1A # RefSeq NP_000059 NM_000068.3 # RefSeq NP_001120693 NM_001127221.1. [O00555-3] # RefSeq NP_001120694 NM_001127222.1. [O00555-8] # RefSeq NP_001167551 NM_001174080.1 # RefSeq NP_075461 NM_023035.2 # SEQUENCE CAUTION Sequence=AAB49678.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1A subfamily. {ECO 0000305}. # SMART SM01062 Ca_chan_IQ # SUBCELLULAR LOCATION CAC1A_HUMAN Membrane; Multi-pass membrane protein. # SUBUNIT Voltage-dependent calcium channels are multisubunit complexes, consisting of alpha-1, alpha-2, beta and delta subunits in a 1:1 1:1 ratio. The channel activity is directed by the pore- forming and voltage-sensitive alpha-1 subunit. In many cases, this subunit is sufficient to generate voltage-sensitive calcium channel activity. The auxiliary subunits beta and alpha-2/delta linked by a disulfide bridge regulate the channel activity. Interact (via C-terminal CDB motif) with CABP1 in the pre- and postsynaptic membranes. # TCDB 1.A.1.11.27 the voltage-gated ion channel (vic) superfamily # TISSUE SPECIFICITY Brain specific; mainly found in cerebellum, cerebral cortex, thalamus and hypothalamus. Expressed in the small cell lung carcinoma cell line SCC-9. No expression in heart, kidney, liver or muscle. Purkinje cells contain predominantly P- type VSCC, the Q-type being a prominent calcium current in cerebellar granule cells. {ECO:0000269|PubMed 1335101}. # UCSC uc002mwy human. [O00555-1] # WEB RESOURCE CAC1A_HUMAN Name=Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A); Note=Leiden Open Variation Database (LOVD); URL="http //chromium.liacs.nl/LOVD2/home.php?select_db=CACNA1A"; # WEB RESOURCE CAC1A_HUMAN Name=Familial hemiplegic migraine (FHM) variation database, calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A); Note=Leiden Open Variation Database (LOVD); URL="http //grenada.lumc.nl/LOVD2/FHM/home.php?select_db=CACNA1A"; # WEB RESOURCE CAC1A_HUMAN Name=Undiagnosed Disease Network; Note=CACNA1A; URL="https //undiagnosed.hms.harvard.edu/updates/genes-of-interest/cacna1a-gene/"; # eggNOG ENOG410XNP6 LUCA # eggNOG KOG2301 Eukaryota BLAST swissprot:CAC1A_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CAC1A_HUMAN BioCyc ZFISH:ENSG00000141837-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000141837-MONOMER COXPRESdb 773 http://coxpresdb.jp/data/gene/773.shtml DOI 10.1001/archneur.58.2.292 http://dx.doi.org/10.1001/archneur.58.2.292 DOI 10.1002/ana.1031 http://dx.doi.org/10.1002/ana.1031 DOI 10.1002/ana.20169 http://dx.doi.org/10.1002/ana.20169 DOI 10.1007/BF02255782 http://dx.doi.org/10.1007/BF02255782 DOI 10.1007/s00415-002-0860-8 http://dx.doi.org/10.1007/s00415-002-0860-8 DOI 10.1007/s004390051099 http://dx.doi.org/10.1007/s004390051099 DOI 10.1016/S0006-3495(99)77300-5 http://dx.doi.org/10.1016/S0006-3495(99)77300-5 DOI 10.1016/S0025-6196(12)61144-6 http://dx.doi.org/10.1016/S0025-6196(12)61144-6 DOI 10.1016/S0092-8674(00)81373-2 http://dx.doi.org/10.1016/S0092-8674(00)81373-2 DOI 10.1016/j.ejpn.2008.02.011 http://dx.doi.org/10.1016/j.ejpn.2008.02.011 DOI 10.1016/j.jns.2005.10.007 http://dx.doi.org/10.1016/j.jns.2005.10.007 DOI 10.1016/j.jns.2009.01.005 http://dx.doi.org/10.1016/j.jns.2009.01.005 DOI 10.1016/j.jns.2010.01.010 http://dx.doi.org/10.1016/j.jns.2010.01.010 DOI 10.1016/j.neulet.2009.01.081 http://dx.doi.org/10.1016/j.neulet.2009.01.081 DOI 10.1016/j.str.2008.01.011 http://dx.doi.org/10.1016/j.str.2008.01.011 DOI 10.1038/nature02399 http://dx.doi.org/10.1038/nature02399 DOI 10.1038/ng0197-62 http://dx.doi.org/10.1038/ng0197-62 DOI 10.1038/nn805 http://dx.doi.org/10.1038/nn805 DOI 10.1056/NEJM200107053450103 http://dx.doi.org/10.1056/NEJM200107053450103 DOI 10.1074/jbc.275.15.10893 http://dx.doi.org/10.1074/jbc.275.15.10893 DOI 10.1086/301613 http://dx.doi.org/10.1086/301613 DOI 10.1093/hmg/6.11.1973 http://dx.doi.org/10.1093/hmg/6.11.1973 DOI 10.1111/j..2004.00187.x http://dx.doi.org/10.1111/j..2004.00187.x DOI 10.1111/j.1399-0004.2008.00996.x http://dx.doi.org/10.1111/j.1399-0004.2008.00996.x DOI 10.1111/j.1442-200X.2011.03390.x http://dx.doi.org/10.1111/j.1442-200X.2011.03390.x DOI 10.1111/j.1526-4610.2006.00504.x http://dx.doi.org/10.1111/j.1526-4610.2006.00504.x DOI 10.1136/jmg.2003.015396 http://dx.doi.org/10.1136/jmg.2003.015396 DOI 10.1136/jnnp.2008.163402 http://dx.doi.org/10.1136/jnnp.2008.163402 DOI 10.1212/01.WNL.0000101675.61074.50 http://dx.doi.org/10.1212/01.WNL.0000101675.61074.50 DOI 10.1212/WNL.53.1.26 http://dx.doi.org/10.1212/WNL.53.1.26 DOI 10.1212/WNL.57.10.1843 http://dx.doi.org/10.1212/WNL.57.10.1843 DrugBank DB00230 http://www.drugbank.ca/drugs/DB00230 DrugBank DB00421 http://www.drugbank.ca/drugs/DB00421 DrugBank DB00661 http://www.drugbank.ca/drugs/DB00661 DrugBank DB00836 http://www.drugbank.ca/drugs/DB00836 DrugBank DB01244 http://www.drugbank.ca/drugs/DB01244 EMBL AB035727 http://www.ebi.ac.uk/ena/data/view/AB035727 EMBL AC005305 http://www.ebi.ac.uk/ena/data/view/AC005305 EMBL AC005513 http://www.ebi.ac.uk/ena/data/view/AC005513 EMBL AC008540 http://www.ebi.ac.uk/ena/data/view/AC008540 EMBL AC011446 http://www.ebi.ac.uk/ena/data/view/AC011446 EMBL AC022436 http://www.ebi.ac.uk/ena/data/view/AC022436 EMBL AC026805 http://www.ebi.ac.uk/ena/data/view/AC026805 EMBL AC093062 http://www.ebi.ac.uk/ena/data/view/AC093062 EMBL AC098781 http://www.ebi.ac.uk/ena/data/view/AC098781 EMBL AC124224 http://www.ebi.ac.uk/ena/data/view/AC124224 EMBL AF004883 http://www.ebi.ac.uk/ena/data/view/AF004883 EMBL AF004884 http://www.ebi.ac.uk/ena/data/view/AF004884 EMBL S76537 http://www.ebi.ac.uk/ena/data/view/S76537 EMBL U06702 http://www.ebi.ac.uk/ena/data/view/U06702 EMBL U79663 http://www.ebi.ac.uk/ena/data/view/U79663 EMBL U79664 http://www.ebi.ac.uk/ena/data/view/U79664 EMBL U79665 http://www.ebi.ac.uk/ena/data/view/U79665 EMBL U79666 http://www.ebi.ac.uk/ena/data/view/U79666 EMBL U79667 http://www.ebi.ac.uk/ena/data/view/U79667 EMBL U79668 http://www.ebi.ac.uk/ena/data/view/U79668 EMBL X99897 http://www.ebi.ac.uk/ena/data/view/X99897 EMBL Z80114 http://www.ebi.ac.uk/ena/data/view/Z80114 EMBL Z80115 http://www.ebi.ac.uk/ena/data/view/Z80115 Ensembl ENST00000360228 http://www.ensembl.org/id/ENST00000360228 Ensembl ENST00000635895 http://www.ensembl.org/id/ENST00000635895 Ensembl ENST00000637276 http://www.ensembl.org/id/ENST00000637276 Ensembl ENST00000638009 http://www.ensembl.org/id/ENST00000638009 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005891 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005891 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0030425 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030425 GO_component GO:0042995 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042995 GO_component GO:0043025 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043025 GO_component GO:0098793 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0098793 GO_function GO:0005245 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005245 GO_function GO:0005262 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005262 GO_function GO:0008331 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008331 GO_function GO:0019905 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019905 GO_function GO:0046872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046872 GO_process GO:0000096 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000096 GO_process GO:0006006 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006006 GO_process GO:0007204 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007204 GO_process GO:0007214 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007214 GO_process GO:0007274 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007274 GO_process GO:0007416 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007416 GO_process GO:0007628 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007628 GO_process GO:0008219 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008219 GO_process GO:0014051 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014051 GO_process GO:0014056 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014056 GO_process GO:0016049 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016049 GO_process GO:0017158 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0017158 GO_process GO:0019226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019226 GO_process GO:0021522 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021522 GO_process GO:0021590 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021590 GO_process GO:0021679 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021679 GO_process GO:0021702 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021702 GO_process GO:0021750 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021750 GO_process GO:0030644 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030644 GO_process GO:0032353 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032353 GO_process GO:0035249 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035249 GO_process GO:0042133 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042133 GO_process GO:0042445 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042445 GO_process GO:0043113 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043113 GO_process GO:0043524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043524 GO_process GO:0048266 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048266 GO_process GO:0048791 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048791 GO_process GO:0048813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048813 GO_process GO:0050770 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050770 GO_process GO:0050796 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050796 GO_process GO:0050883 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050883 GO_process GO:0050885 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050885 GO_process GO:0051899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051899 GO_process GO:0060024 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060024 GO_process GO:0086010 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086010 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0005975 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005975 GOslim_process GO:0006520 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006520 GOslim_process GO:0006790 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006790 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0008219 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008219 GOslim_process GO:0016192 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016192 GOslim_process GO:0021700 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021700 GOslim_process GO:0022607 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022607 GOslim_process GO:0030154 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030154 GOslim_process GO:0040007 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0040007 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GOslim_process GO:0061024 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061024 Gene3D 1.20.120.350 http://www.cathdb.info/version/latest/superfamily/1.20.120.350 GeneCards CACNA1A http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CACNA1A GeneID 773 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=773 GeneTree ENSGT00830000128247 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00830000128247 HGNC HGNC:1388 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:1388 HOGENOM HOG000231530 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231530&db=HOGENOM6 HOVERGEN HBG050763 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050763&db=HOVERGEN HPA HPA064258 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA064258 InParanoid O00555 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O00555 IntAct O00555 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O00555* InterPro IPR002077 http://www.ebi.ac.uk/interpro/entry/IPR002077 InterPro IPR005448 http://www.ebi.ac.uk/interpro/entry/IPR005448 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR014873 http://www.ebi.ac.uk/interpro/entry/IPR014873 InterPro IPR027359 http://www.ebi.ac.uk/interpro/entry/IPR027359 InterPro IPR031649 http://www.ebi.ac.uk/interpro/entry/IPR031649 Jabion 773 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=773 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00063 http://www.genome.jp/dbget-bin/www_bget?H00063 KEGG_Disease H00749 http://www.genome.jp/dbget-bin/www_bget?H00749 KEGG_Disease H00775 http://www.genome.jp/dbget-bin/www_bget?H00775 KEGG_Gene hsa:773 http://www.genome.jp/dbget-bin/www_bget?hsa:773 KEGG_Orthology KO:K04344 http://www.genome.jp/dbget-bin/www_bget?KO:K04344 KEGG_Pathway ko04010 http://www.genome.jp/kegg-bin/show_pathway?ko04010 KEGG_Pathway ko04020 http://www.genome.jp/kegg-bin/show_pathway?ko04020 KEGG_Pathway ko04721 http://www.genome.jp/kegg-bin/show_pathway?ko04721 KEGG_Pathway ko04723 http://www.genome.jp/kegg-bin/show_pathway?ko04723 KEGG_Pathway ko04724 http://www.genome.jp/kegg-bin/show_pathway?ko04724 KEGG_Pathway ko04725 http://www.genome.jp/kegg-bin/show_pathway?ko04725 KEGG_Pathway ko04726 http://www.genome.jp/kegg-bin/show_pathway?ko04726 KEGG_Pathway ko04727 http://www.genome.jp/kegg-bin/show_pathway?ko04727 KEGG_Pathway ko04728 http://www.genome.jp/kegg-bin/show_pathway?ko04728 KEGG_Pathway ko04730 http://www.genome.jp/kegg-bin/show_pathway?ko04730 KEGG_Pathway ko04742 http://www.genome.jp/kegg-bin/show_pathway?ko04742 KEGG_Pathway ko04930 http://www.genome.jp/kegg-bin/show_pathway?ko04930 KEGG_Pathway ko05032 http://www.genome.jp/kegg-bin/show_pathway?ko05032 KEGG_Pathway ko05033 http://www.genome.jp/kegg-bin/show_pathway?ko05033 MIM 108500 http://www.ncbi.nlm.nih.gov/omim/108500 MIM 141500 http://www.ncbi.nlm.nih.gov/omim/141500 MIM 183086 http://www.ncbi.nlm.nih.gov/omim/183086 MIM 601011 http://www.ncbi.nlm.nih.gov/omim/601011 Orphanet 2131 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=2131 Orphanet 569 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=569 Orphanet 71518 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=71518 Orphanet 97 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=97 Orphanet 98758 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=98758 PANTHER PTHR10037:SF59 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10037:SF59 PDB 3BXK http://www.ebi.ac.uk/pdbe-srv/view/entry/3BXK PDBsum 3BXK http://www.ebi.ac.uk/pdbsum/3BXK PRINTS PR00167 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00167 PRINTS PR01632 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01632 PSORT swissprot:CAC1A_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CAC1A_HUMAN PSORT-B swissprot:CAC1A_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CAC1A_HUMAN PSORT2 swissprot:CAC1A_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CAC1A_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF08763 http://pfam.xfam.org/family/PF08763 Pfam PF16905 http://pfam.xfam.org/family/PF16905 PharmGKB PA26007 http://www.pharmgkb.org/do/serve?objId=PA26007&objCls=Gene Phobius swissprot:CAC1A_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CAC1A_HUMAN PhylomeDB O00555 http://phylomedb.org/?seqid=O00555 ProteinModelPortal O00555 http://www.proteinmodelportal.org/query/uniprot/O00555 PubMed 10049321 http://www.ncbi.nlm.nih.gov/pubmed/10049321 PubMed 10408532 http://www.ncbi.nlm.nih.gov/pubmed/10408532 PubMed 10753886 http://www.ncbi.nlm.nih.gov/pubmed/10753886 PubMed 10987655 http://www.ncbi.nlm.nih.gov/pubmed/10987655 PubMed 11176968 http://www.ncbi.nlm.nih.gov/pubmed/11176968 PubMed 11409427 http://www.ncbi.nlm.nih.gov/pubmed/11409427 PubMed 11439943 http://www.ncbi.nlm.nih.gov/pubmed/11439943 PubMed 11723274 http://www.ncbi.nlm.nih.gov/pubmed/11723274 PubMed 11865310 http://www.ncbi.nlm.nih.gov/pubmed/11865310 PubMed 12420090 http://www.ncbi.nlm.nih.gov/pubmed/12420090 PubMed 1335101 http://www.ncbi.nlm.nih.gov/pubmed/1335101 PubMed 14718690 http://www.ncbi.nlm.nih.gov/pubmed/14718690 PubMed 15032980 http://www.ncbi.nlm.nih.gov/pubmed/15032980 PubMed 15057824 http://www.ncbi.nlm.nih.gov/pubmed/15057824 PubMed 15173248 http://www.ncbi.nlm.nih.gov/pubmed/15173248 PubMed 15293273 http://www.ncbi.nlm.nih.gov/pubmed/15293273 PubMed 16325861 http://www.ncbi.nlm.nih.gov/pubmed/16325861 PubMed 16866717 http://www.ncbi.nlm.nih.gov/pubmed/16866717 PubMed 18400034 http://www.ncbi.nlm.nih.gov/pubmed/18400034 PubMed 18400181 http://www.ncbi.nlm.nih.gov/pubmed/18400181 PubMed 18602318 http://www.ncbi.nlm.nih.gov/pubmed/18602318 PubMed 19232643 http://www.ncbi.nlm.nih.gov/pubmed/19232643 PubMed 19429006 http://www.ncbi.nlm.nih.gov/pubmed/19429006 PubMed 20129625 http://www.ncbi.nlm.nih.gov/pubmed/20129625 PubMed 20682717 http://www.ncbi.nlm.nih.gov/pubmed/20682717 PubMed 21696515 http://www.ncbi.nlm.nih.gov/pubmed/21696515 PubMed 7823133 http://www.ncbi.nlm.nih.gov/pubmed/7823133 PubMed 8525433 http://www.ncbi.nlm.nih.gov/pubmed/8525433 PubMed 8898206 http://www.ncbi.nlm.nih.gov/pubmed/8898206 PubMed 8988170 http://www.ncbi.nlm.nih.gov/pubmed/8988170 PubMed 9302278 http://www.ncbi.nlm.nih.gov/pubmed/9302278 PubMed 9345107 http://www.ncbi.nlm.nih.gov/pubmed/9345107 Reactome R-HSA-112308 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-112308 Reactome R-HSA-422356 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-422356 RefSeq NP_000059 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000059 RefSeq NP_001120693 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001120693 RefSeq NP_001120694 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001120694 RefSeq NP_001167551 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001167551 RefSeq NP_075461 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_075461 SMART SM01062 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM01062 SMR O00555 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=O00555 STRING 9606.ENSP00000353362 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000353362&targetmode=cogs TCDB 1.A.1.11.27 http://www.tcdb.org/search/result.php?tc=1.A.1.11.27 UCSC uc002mwy http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002mwy&org=rat UniGene Hs.501632 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.501632 UniProtKB CAC1A_HUMAN http://www.uniprot.org/uniprot/CAC1A_HUMAN UniProtKB-AC O00555 http://www.uniprot.org/uniprot/O00555 charge swissprot:CAC1A_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CAC1A_HUMAN eggNOG ENOG410XNP6 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XNP6 eggNOG KOG2301 http://eggnogapi.embl.de/nog_data/html/tree/KOG2301 epestfind swissprot:CAC1A_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CAC1A_HUMAN garnier swissprot:CAC1A_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CAC1A_HUMAN helixturnhelix swissprot:CAC1A_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CAC1A_HUMAN hmoment swissprot:CAC1A_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CAC1A_HUMAN iep swissprot:CAC1A_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CAC1A_HUMAN inforesidue swissprot:CAC1A_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CAC1A_HUMAN neXtProt NX_O00555 http://www.nextprot.org/db/entry/NX_O00555 octanol swissprot:CAC1A_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CAC1A_HUMAN pepcoil swissprot:CAC1A_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CAC1A_HUMAN pepdigest swissprot:CAC1A_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CAC1A_HUMAN pepinfo swissprot:CAC1A_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CAC1A_HUMAN pepnet swissprot:CAC1A_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CAC1A_HUMAN pepstats swissprot:CAC1A_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CAC1A_HUMAN pepwheel swissprot:CAC1A_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CAC1A_HUMAN pepwindow swissprot:CAC1A_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CAC1A_HUMAN sigcleave swissprot:CAC1A_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CAC1A_HUMAN ## Database ID URL or Descriptions # AltName IMA5_HUMAN Karyopherin subunit alpha-1 # AltName IMA5_HUMAN Nucleoprotein interactor 1 # AltName IMA5_HUMAN RAG cohort protein 2 # AltName IMA5_HUMAN SRP1-beta # AltName IMA5_HUMAN SRP1-beta # BioGrid 110034 108 # ChiTaRS KPNA1 human # DOMAIN IMA5_HUMAN Consists of an N-terminal hydrophilic region, a hydrophobic central region composed of 10 repeats, and a short hydrophilic C-terminus. The N-terminal hydrophilic region contains the importin beta binding domain (IBB domain), which is sufficient for binding importin beta and essential for nuclear protein import. {ECO 0000269|PubMed 8692858}. # DOMAIN IMA5_HUMAN The IBB domain is thought to act as an intrasteric autoregulatory sequence by interacting with the internal autoinhibitory NLS. Binding of KPNB1 probably overlaps the internal NLS and contributes to a high affinity for cytoplasmic NLS-containing cargo substrates. After dissociation of the importin/substrate complex in the nucleus the internal autohibitory NLS contributes to a low affinity for nuclear NLS- containing proteins (By similarity). {ECO 0000250}. # DOMAIN IMA5_HUMAN The major and minor NLS binding sites are mainly involved in recognition of simple or bipartite NLS motifs. Structurally located within in a helical surface groove they contain several conserved Trp and Asn residues of the corresponding third helices (H3) of ARM repeats which mainly contribute to binding (By similarity). {ECO 0000250}. # Ensembl ENST00000344337 ENSP00000343701; ENSG00000114030 # ExpressionAtlas P52294 baseline and differential # FUNCTION IMA5_HUMAN Functions in nuclear protein import as an adapter protein for nuclear receptor KPNB1. Binds specifically and directly to substrates containing either a simple or bipartite NLS motif. Docking of the importin/substrate complex to the nuclear pore complex (NPC) is mediated by KPNB1 through binding to nucleoporin FxFG repeats and the complex is subsequently translocated through the pore by an energy requiring, Ran- dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to importin-beta and the three components separate and importin-alpha and -beta are re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran from importin. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. In vitro, mediates the nuclear import of human cytomegalovirus UL84 by recognizing a non- classical NLS. # GO_component GO:0005634 nucleus; ISS:UniProtKB. # GO_component GO:0005643 nuclear pore; TAS:ProtInc. # GO_component GO:0005654 nucleoplasm; IDA:HPA. # GO_component GO:0005737 cytoplasm; IDA:HPA. # GO_component GO:0005829 cytosol; IBA:GO_Central. # GO_component GO:0030425 dendrite; ISS:UniProtKB. # GO_function GO:0008139 nuclear localization sequence binding; TAS:ProtInc. # GO_function GO:0008565 protein transporter activity; IBA:GO_Central. # GO_process GO:0000018 regulation of DNA recombination; TAS:ProtInc. # GO_process GO:0006309 apoptotic DNA fragmentation; TAS:Reactome. # GO_process GO:0006607 NLS-bearing protein import into nucleus; TAS:ProtInc. # GO_process GO:0019054 modulation by virus of host process; TAS:Reactome. # GO_process GO:0075733 intracellular transport of virus; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005654 nucleoplasm # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005829 cytosol # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0008565 protein transporter activity # GOslim_process GO:0006259 DNA metabolic process # GOslim_process GO:0006810 transport # GOslim_process GO:0006913 nucleocytoplasmic transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0034655 nucleobase-containing compound catabolic process # GOslim_process GO:0044403 symbiosis, encompassing mutualism through parasitism # Gene3D 1.25.10.10 -; 1. # Genevisible P52294 HS # HGNC HGNC:6394 KPNA1 # INTERACTION IMA5_HUMAN Q9WMX2 - (xeno); NbExp=2; IntAct=EBI-358383, EBI-6863741; Q92688 ANP32B; NbExp=7; IntAct=EBI-358383, EBI-762428; Q9HAZ1 CLK4; NbExp=3; IntAct=EBI-358383, EBI-633400; Q5TAQ9 DCAF8; NbExp=2; IntAct=EBI-358383, EBI-740686; Q13255 GRM1; NbExp=2; IntAct=EBI-358383, EBI-8527352; P20700 LMNB1; NbExp=3; IntAct=EBI-358383, EBI-968218; Q9UKX7 NUP50; NbExp=6; IntAct=EBI-358383, EBI-2371082; B4URF7 PB2 (xeno); NbExp=2; IntAct=EBI-358383, EBI-6050648; Q15637 SF1; NbExp=3; IntAct=EBI-358383, EBI-744603; Q16594 TAF9; NbExp=4; IntAct=EBI-358383, EBI-712521; # IntAct P52294 73 # InterPro IPR000225 Armadillo # InterPro IPR002652 Importin-a_IBB # InterPro IPR011989 ARM-like # InterPro IPR016024 ARM-type_fold # InterPro IPR024931 Importing_su_alpha # InterPro IPR032413 Arm_3 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko03036 Chromosome # KEGG_Pathway ko05164 Influenza A # MIM 600686 gene # Organism IMA5_HUMAN Homo sapiens (Human) # PDB 2JDQ X-ray; 2.20 A; A/B=66-512 # PDB 3TJ3 X-ray; 2.70 A; A/B=66-512 # PDB 4B18 X-ray; 2.52 A; A=66-512 # PIR I59931 I59931 # PIRSF PIRSF005673 Importin_alpha # PROSITE PS50176 ARM_REPEAT; 4 # PROSITE PS51214 IBB # PTM IMA5_HUMAN Polyubiquitinated in the presence of RAG1 (in vitro). {ECO 0000269|PubMed 19118899}. # Pfam PF00514 Arm; 8 # Pfam PF01749 IBB # Pfam PF16186 Arm_3 # Proteomes UP000005640 Chromosome 3 # Reactome R-HSA-1169408 ISG15 antiviral mechanism # Reactome R-HSA-162592 Integration of provirus # Reactome R-HSA-168271 Transport of Ribonucleoproteins into the Host Nucleus # Reactome R-HSA-168276 NS1 Mediated Effects on Host Pathways # Reactome R-HSA-180910 Vpr-mediated nuclear import of PICs # Reactome R-HSA-211227 Activation of DNA fragmentation factor # RecName IMA5_HUMAN Importin subunit alpha-5 # RecName IMA5_HUMAN Importin subunit alpha-5, N-terminally processed # RefSeq NP_002255 NM_002264.3 # RefSeq XP_005247494 XM_005247437.3 # SIMILARITY Belongs to the importin alpha family. {ECO 0000305}. # SIMILARITY Contains 1 IBB domain. {ECO:0000255|PROSITE- ProRule PRU00561}. # SIMILARITY Contains 10 ARM repeats. {ECO:0000255|PROSITE- ProRule PRU00259}. # SMART SM00185 ARM; 8 # SUBCELLULAR LOCATION IMA5_HUMAN Cytoplasm {ECO 0000269|PubMed 7604027}. Nucleus {ECO 0000269|PubMed 7604027}. # SUBUNIT IMA5_HUMAN Heterodimer; with KPNB1. Interacts with ANP32E. Interacts with ZIC3 (By similarity). Interacts with NSMF; the interaction occurs in a calcium-independent manner after synaptic NMDA receptor stimulation and is required for nuclear import of NSMF but is competed by CABP1 (By similarity). Interacts with the nucleoprotein of influenza A viruses. Binds to HCMV (human cytomegalovirus) UL84, HIV-1 Vpr and to ebolavirus VP24. Interacts with APEX1 and RAG1. Interacts with CTNNBL1 (via its N-terminal). Interacts with AICDA (via its NLS). Interacts with SNAI1 (via zinc fingers). Interacts with DCAF8. {ECO 0000250, ECO 0000269|PubMed 12610148, ECO 0000269|PubMed 15942031, ECO 0000269|PubMed 16698996, ECO 0000269|PubMed 21385873, ECO 0000269|PubMed 21454664, ECO 0000269|PubMed 22500989, ECO 0000269|PubMed 7604027, ECO 0000269|PubMed 8052633, ECO 0000269|PubMed 9463369}. # SUPFAM SSF48371 SSF48371 # TCDB 1.I.1.1 the nuclear pore complex (npc) family # TISSUE SPECIFICITY IMA5_HUMAN Expressed ubiquitously. # UCSC uc003efe human # eggNOG COG5064 LUCA # eggNOG KOG0166 Eukaryota BLAST swissprot:IMA5_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:IMA5_HUMAN BioCyc ZFISH:ENSG00000114030-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000114030-MONOMER COXPRESdb 3836 http://coxpresdb.jp/data/gene/3836.shtml CleanEx HS_KPNA1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KPNA1 DIP DIP-29296N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-29296N DOI 10.1016/S0042-6822(95)80026-3 http://dx.doi.org/10.1016/S0042-6822(95)80026-3 DOI 10.1016/j.febslet.2012.02.053 http://dx.doi.org/10.1016/j.febslet.2012.02.053 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1016/j.molcel.2008.07.007 http://dx.doi.org/10.1016/j.molcel.2008.07.007 DOI 10.1016/j.molimm.2008.11.009 http://dx.doi.org/10.1016/j.molimm.2008.11.009 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature04728 http://dx.doi.org/10.1038/nature04728 DOI 10.1073/pnas.1210303109 http://dx.doi.org/10.1073/pnas.1210303109 DOI 10.1073/pnas.91.16.7633 http://dx.doi.org/10.1073/pnas.91.16.7633 DOI 10.1073/pnas.92.14.6532 http://dx.doi.org/10.1073/pnas.92.14.6532 DOI 10.1073/pnas.92.6.2008 http://dx.doi.org/10.1073/pnas.92.6.2008 DOI 10.1073/pnas.93.13.6572 http://dx.doi.org/10.1073/pnas.93.13.6572 DOI 10.1074/jbc.M110.208769 http://dx.doi.org/10.1074/jbc.M110.208769 DOI 10.1074/jbc.M110.213579 http://dx.doi.org/10.1074/jbc.M110.213579 DOI 10.1093/emboj/17.4.909 http://dx.doi.org/10.1093/emboj/17.4.909 DOI 10.1093/nar/gki641 http://dx.doi.org/10.1093/nar/gki641 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1128/JVI.02349-05 http://dx.doi.org/10.1128/JVI.02349-05 DOI 10.1128/JVI.77.6.3734-3748.2003 http://dx.doi.org/10.1128/JVI.77.6.3734-3748.2003 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AC083798 http://www.ebi.ac.uk/ena/data/view/AC083798 EMBL AC096861 http://www.ebi.ac.uk/ena/data/view/AC096861 EMBL BC002374 http://www.ebi.ac.uk/ena/data/view/BC002374 EMBL BC003009 http://www.ebi.ac.uk/ena/data/view/BC003009 EMBL BT006959 http://www.ebi.ac.uk/ena/data/view/BT006959 EMBL CH471052 http://www.ebi.ac.uk/ena/data/view/CH471052 EMBL CH471052 http://www.ebi.ac.uk/ena/data/view/CH471052 EMBL CR456743 http://www.ebi.ac.uk/ena/data/view/CR456743 EMBL S75295 http://www.ebi.ac.uk/ena/data/view/S75295 Ensembl ENST00000344337 http://www.ensembl.org/id/ENST00000344337 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005643 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005643 GO_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0030425 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030425 GO_function GO:0008139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008139 GO_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GO_process GO:0000018 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000018 GO_process GO:0006309 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006309 GO_process GO:0006607 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006607 GO_process GO:0019054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019054 GO_process GO:0075733 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0075733 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_process GO:0006259 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006259 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006913 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006913 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0034655 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034655 GOslim_process GO:0044403 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044403 Gene3D 1.25.10.10 http://www.cathdb.info/version/latest/superfamily/1.25.10.10 GeneCards KPNA1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KPNA1 GeneID 3836 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=3836 GeneTree ENSGT00760000119094 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119094 HGNC HGNC:6394 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6394 HOGENOM HOG000167616 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000167616&db=HOGENOM6 HOVERGEN HBG001846 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG001846&db=HOVERGEN HPA HPA053627 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA053627 HPA HPA063426 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA063426 InParanoid P52294 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P52294 IntAct P52294 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P52294* InterPro IPR000225 http://www.ebi.ac.uk/interpro/entry/IPR000225 InterPro IPR002652 http://www.ebi.ac.uk/interpro/entry/IPR002652 InterPro IPR011989 http://www.ebi.ac.uk/interpro/entry/IPR011989 InterPro IPR016024 http://www.ebi.ac.uk/interpro/entry/IPR016024 InterPro IPR024931 http://www.ebi.ac.uk/interpro/entry/IPR024931 InterPro IPR032413 http://www.ebi.ac.uk/interpro/entry/IPR032413 Jabion 3836 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=3836 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko03036 http://www.genome.jp/dbget-bin/www_bget?ko03036 KEGG_Gene hsa:3836 http://www.genome.jp/dbget-bin/www_bget?hsa:3836 KEGG_Orthology KO:K15042 http://www.genome.jp/dbget-bin/www_bget?KO:K15042 KEGG_Pathway ko05164 http://www.genome.jp/kegg-bin/show_pathway?ko05164 MIM 600686 http://www.ncbi.nlm.nih.gov/omim/600686 MINT MINT-240027 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-240027 OMA WNCESES http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=WNCESES OrthoDB EOG091G095Z http://cegg.unige.ch/orthodb/results?searchtext=EOG091G095Z PDB 2JDQ http://www.ebi.ac.uk/pdbe-srv/view/entry/2JDQ PDB 3TJ3 http://www.ebi.ac.uk/pdbe-srv/view/entry/3TJ3 PDB 4B18 http://www.ebi.ac.uk/pdbe-srv/view/entry/4B18 PDBsum 2JDQ http://www.ebi.ac.uk/pdbsum/2JDQ PDBsum 3TJ3 http://www.ebi.ac.uk/pdbsum/3TJ3 PDBsum 4B18 http://www.ebi.ac.uk/pdbsum/4B18 PROSITE PS50176 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50176 PROSITE PS51214 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51214 PSORT swissprot:IMA5_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:IMA5_HUMAN PSORT-B swissprot:IMA5_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:IMA5_HUMAN PSORT2 swissprot:IMA5_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:IMA5_HUMAN Pfam PF00514 http://pfam.xfam.org/family/PF00514 Pfam PF01749 http://pfam.xfam.org/family/PF01749 Pfam PF16186 http://pfam.xfam.org/family/PF16186 PharmGKB PA30185 http://www.pharmgkb.org/do/serve?objId=PA30185&objCls=Gene Phobius swissprot:IMA5_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:IMA5_HUMAN PhylomeDB P52294 http://phylomedb.org/?seqid=P52294 ProteinModelPortal P52294 http://www.proteinmodelportal.org/query/uniprot/P52294 PubMed 12610148 http://www.ncbi.nlm.nih.gov/pubmed/12610148 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15942031 http://www.ncbi.nlm.nih.gov/pubmed/15942031 PubMed 16641997 http://www.ncbi.nlm.nih.gov/pubmed/16641997 PubMed 16698996 http://www.ncbi.nlm.nih.gov/pubmed/16698996 PubMed 18691976 http://www.ncbi.nlm.nih.gov/pubmed/18691976 PubMed 19118899 http://www.ncbi.nlm.nih.gov/pubmed/19118899 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 21385873 http://www.ncbi.nlm.nih.gov/pubmed/21385873 PubMed 21454664 http://www.ncbi.nlm.nih.gov/pubmed/21454664 PubMed 22500989 http://www.ncbi.nlm.nih.gov/pubmed/22500989 PubMed 22814378 http://www.ncbi.nlm.nih.gov/pubmed/22814378 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 7604027 http://www.ncbi.nlm.nih.gov/pubmed/7604027 PubMed 7831767 http://www.ncbi.nlm.nih.gov/pubmed/7831767 PubMed 7892216 http://www.ncbi.nlm.nih.gov/pubmed/7892216 PubMed 8052633 http://www.ncbi.nlm.nih.gov/pubmed/8052633 PubMed 8692858 http://www.ncbi.nlm.nih.gov/pubmed/8692858 PubMed 9463369 http://www.ncbi.nlm.nih.gov/pubmed/9463369 Reactome R-HSA-1169408 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1169408 Reactome R-HSA-162592 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-162592 Reactome R-HSA-168271 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-168271 Reactome R-HSA-168276 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-168276 Reactome R-HSA-180910 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-180910 Reactome R-HSA-211227 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-211227 RefSeq NP_002255 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_002255 RefSeq XP_005247494 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005247494 SMART SM00185 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00185 SMR P52294 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P52294 STRING 9606.ENSP00000343701 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000343701&targetmode=cogs SUPFAM SSF48371 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48371 TCDB 1.I.1.1 http://www.tcdb.org/search/result.php?tc=1.I.1.1 UCSC uc003efe http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003efe&org=rat UniGene Hs.161008 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.161008 UniProtKB IMA5_HUMAN http://www.uniprot.org/uniprot/IMA5_HUMAN UniProtKB-AC P52294 http://www.uniprot.org/uniprot/P52294 charge swissprot:IMA5_HUMAN http://rest.g-language.org/emboss/charge/swissprot:IMA5_HUMAN eggNOG COG5064 http://eggnogapi.embl.de/nog_data/html/tree/COG5064 eggNOG KOG0166 http://eggnogapi.embl.de/nog_data/html/tree/KOG0166 epestfind swissprot:IMA5_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:IMA5_HUMAN garnier swissprot:IMA5_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:IMA5_HUMAN helixturnhelix swissprot:IMA5_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:IMA5_HUMAN hmoment swissprot:IMA5_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:IMA5_HUMAN iep swissprot:IMA5_HUMAN http://rest.g-language.org/emboss/iep/swissprot:IMA5_HUMAN inforesidue swissprot:IMA5_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:IMA5_HUMAN neXtProt NX_P52294 http://www.nextprot.org/db/entry/NX_P52294 octanol swissprot:IMA5_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:IMA5_HUMAN pepcoil swissprot:IMA5_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:IMA5_HUMAN pepdigest swissprot:IMA5_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:IMA5_HUMAN pepinfo swissprot:IMA5_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:IMA5_HUMAN pepnet swissprot:IMA5_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:IMA5_HUMAN pepstats swissprot:IMA5_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:IMA5_HUMAN pepwheel swissprot:IMA5_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:IMA5_HUMAN pepwindow swissprot:IMA5_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:IMA5_HUMAN sigcleave swissprot:IMA5_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:IMA5_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS UCP3_HUMAN Event=Alternative splicing; Named isoforms=3; Name=UCP3L; IsoId=P55916-1; Sequence=Displayed; Name=UCP3S; IsoId=P55916-2; Sequence=VSP_003271; Name=3; IsoId=P55916-3; Sequence=VSP_003270; # AltName UCP3_HUMAN Solute carrier family 25 member 9 # BioGrid 113199 3 # CCDS CCDS44677 -. [P55916-2] # CCDS CCDS8229 -. [P55916-1] # DISEASE UCP3_HUMAN Obesity (OBESITY) [MIM 601665] A condition characterized by an increase of body weight beyond the limitation of skeletal and physical requirements, as the result of excessive accumulation of body fat. {ECO 0000269|PubMed 9769326, ECO 0000269|Ref.9}. Note=The gene represented in this entry may be involved in disease pathogenesis. # Ensembl ENST00000314032 ENSP00000323740; ENSG00000175564. [P55916-1] # Ensembl ENST00000426995 ENSP00000392143; ENSG00000175564. [P55916-2] # ExpressionAtlas P55916 baseline and differential # FUNCTION UCP3_HUMAN UCP are mitochondrial transporter proteins that create proton leaks across the inner mitochondrial membrane, thus uncoupling oxidative phosphorylation. As a result, energy is dissipated in the form of heat. May play a role in the modulation of tissue respiratory control. Participates in thermogenesis and energy balance. # GO_component GO:0005739 mitochondrion; TAS:ProtInc. # GO_component GO:0005743 mitochondrial inner membrane; TAS:Reactome. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0005215 transporter activity; TAS:ProtInc. # GO_function GO:0017077 oxidative phosphorylation uncoupler activity; IEA:Ensembl. # GO_process GO:0000303 response to superoxide; IEA:Ensembl. # GO_process GO:0001666 response to hypoxia; IEA:Ensembl. # GO_process GO:0006629 lipid metabolic process; TAS:ProtInc. # GO_process GO:0006631 fatty acid metabolic process; IEA:Ensembl. # GO_process GO:0006839 mitochondrial transport; IEA:InterPro. # GO_process GO:0007568 aging; IEA:Ensembl. # GO_process GO:0007584 response to nutrient; IEA:Ensembl. # GO_process GO:0007585 respiratory gaseous exchange; TAS:ProtInc. # GO_process GO:0009409 response to cold; IEA:Ensembl. # GO_process GO:0014823 response to activity; IEA:Ensembl. # GO_process GO:0015992 proton transport; TAS:Reactome. # GO_process GO:0032868 response to insulin; IEA:Ensembl. # GO_process GO:0032870 cellular response to hormone stimulus; IEA:Ensembl. # GO_process GO:0051384 response to glucocorticoid; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005739 mitochondrion # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006629 lipid metabolic process # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007568 aging # GOslim_process GO:0008150 biological_process # GOslim_process GO:0044281 small molecule metabolic process # Gene3D 1.50.40.10 -; 1. # Genevisible P55916 HS # HGNC HGNC:12519 UCP3 # INTERACTION UCP3_HUMAN P03495 NS (xeno); NbExp=2; IntAct=EBI-9116865, EBI-2548993; # InterPro IPR002030 Mit_uncoupling # InterPro IPR018108 Mitochondrial_sb/sol_carrier # InterPro IPR023395 Mt_carrier_dom # KEGG_Brite ko02001 Solute carrier family # MIM 601665 phenotype # MIM 602044 gene # Organism UCP3_HUMAN Homo sapiens (Human) # PIR JC5522 JC5522 # PRINTS PR00784 MTUNCOUPLING # PROSITE PS50920 SOLCAR; 3 # Pfam PF00153 Mito_carr; 3 # Proteomes UP000005640 Chromosome 11 # Reactome R-HSA-167826 The fatty acid cycling model # Reactome R-HSA-167827 The proton buffering model # RecName UCP3_HUMAN Mitochondrial uncoupling protein 3 # RefSeq NP_003347 NM_003356.3. [P55916-1] # RefSeq NP_073714 NM_022803.2. [P55916-2] # SEQUENCE CAUTION Sequence=AAC51785.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the mitochondrial carrier (TC 2.A.29) family. {ECO 0000305}. # SIMILARITY Contains 3 Solcar repeats. {ECO:0000255|PROSITE- ProRule PRU00282}. # SUBCELLULAR LOCATION UCP3_HUMAN Mitochondrion inner membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. # SUPFAM SSF103506 SSF103506 # TCDB 2.A.29.3 the mitochondrial carrier (mc) family # TISSUE SPECIFICITY Only in skeletal muscle and heart. Is more expressed in glycolytic than in oxidative skeletal muscles. {ECO:0000269|PubMed 9196039}. # UCSC uc001our human. [P55916-1] # eggNOG ENOG410XRV1 LUCA # eggNOG KOG0753 Eukaryota BLAST swissprot:UCP3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:UCP3_HUMAN BioCyc ZFISH:ENSG00000175564-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000175564-MONOMER COXPRESdb 7352 http://coxpresdb.jp/data/gene/7352.shtml CleanEx HS_UCP3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_UCP3 DOI 10.1006/bbrc.1997.6740 http://dx.doi.org/10.1006/bbrc.1997.6740 DOI 10.1007/s001250050897 http://dx.doi.org/10.1007/s001250050897 DOI 10.1016/S0014-5793(97)00384-0 http://dx.doi.org/10.1016/S0014-5793(97)00384-0 DOI 10.1074/jbc.272.39.24129 http://dx.doi.org/10.1074/jbc.272.39.24129 DOI 10.1074/jbc.272.41.25433 http://dx.doi.org/10.1074/jbc.272.41.25433 DOI 10.1074/jbc.M005713200 http://dx.doi.org/10.1074/jbc.M005713200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1172/JCI4115 http://dx.doi.org/10.1172/JCI4115 EMBL AF001787 http://www.ebi.ac.uk/ena/data/view/AF001787 EMBL AF011449 http://www.ebi.ac.uk/ena/data/view/AF011449 EMBL AF012197 http://www.ebi.ac.uk/ena/data/view/AF012197 EMBL AF012198 http://www.ebi.ac.uk/ena/data/view/AF012198 EMBL AF012199 http://www.ebi.ac.uk/ena/data/view/AF012199 EMBL AF012200 http://www.ebi.ac.uk/ena/data/view/AF012200 EMBL AF012201 http://www.ebi.ac.uk/ena/data/view/AF012201 EMBL AF012202 http://www.ebi.ac.uk/ena/data/view/AF012202 EMBL AF026956 http://www.ebi.ac.uk/ena/data/view/AF026956 EMBL AF026957 http://www.ebi.ac.uk/ena/data/view/AF026957 EMBL AF026958 http://www.ebi.ac.uk/ena/data/view/AF026958 EMBL AF050113 http://www.ebi.ac.uk/ena/data/view/AF050113 EMBL BC008392 http://www.ebi.ac.uk/ena/data/view/BC008392 EMBL U82818 http://www.ebi.ac.uk/ena/data/view/U82818 EMBL U84763 http://www.ebi.ac.uk/ena/data/view/U84763 Ensembl ENST00000314032 http://www.ensembl.org/id/ENST00000314032 Ensembl ENST00000426995 http://www.ensembl.org/id/ENST00000426995 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005215 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005215 GO_function GO:0017077 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0017077 GO_process GO:0000303 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000303 GO_process GO:0001666 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001666 GO_process GO:0006629 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006629 GO_process GO:0006631 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006631 GO_process GO:0006839 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006839 GO_process GO:0007568 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007568 GO_process GO:0007584 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007584 GO_process GO:0007585 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007585 GO_process GO:0009409 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009409 GO_process GO:0014823 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014823 GO_process GO:0015992 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015992 GO_process GO:0032868 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032868 GO_process GO:0032870 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032870 GO_process GO:0051384 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051384 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006629 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006629 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007568 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007568 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 Gene3D 1.50.40.10 http://www.cathdb.info/version/latest/superfamily/1.50.40.10 GeneCards UCP3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=UCP3 GeneID 7352 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=7352 GeneTree ENSGT00760000119170 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119170 HGNC HGNC:12519 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:12519 HOGENOM HOG000165140 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000165140&db=HOGENOM6 HOVERGEN HBG009528 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG009528&db=HOVERGEN HPA CAB010771 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB010771 InParanoid P55916 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P55916 IntAct P55916 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P55916* InterPro IPR002030 http://www.ebi.ac.uk/interpro/entry/IPR002030 InterPro IPR018108 http://www.ebi.ac.uk/interpro/entry/IPR018108 InterPro IPR023395 http://www.ebi.ac.uk/interpro/entry/IPR023395 Jabion 7352 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=7352 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:7352 http://www.genome.jp/dbget-bin/www_bget?hsa:7352 KEGG_Orthology KO:K15103 http://www.genome.jp/dbget-bin/www_bget?KO:K15103 MIM 601665 http://www.ncbi.nlm.nih.gov/omim/601665 MIM 602044 http://www.ncbi.nlm.nih.gov/omim/602044 OMA KGTWPNI http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=KGTWPNI OrthoDB EOG091G0BQ7 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0BQ7 PRINTS PR00784 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00784 PROSITE PS50920 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50920 PSORT swissprot:UCP3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:UCP3_HUMAN PSORT-B swissprot:UCP3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:UCP3_HUMAN PSORT2 swissprot:UCP3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:UCP3_HUMAN Pfam PF00153 http://pfam.xfam.org/family/PF00153 PharmGKB PA37166 http://www.pharmgkb.org/do/serve?objId=PA37166&objCls=Gene Phobius swissprot:UCP3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:UCP3_HUMAN PhylomeDB P55916 http://phylomedb.org/?seqid=P55916 ProteinModelPortal P55916 http://www.proteinmodelportal.org/query/uniprot/P55916 PubMed 10958796 http://www.ncbi.nlm.nih.gov/pubmed/10958796 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 9180264 http://www.ncbi.nlm.nih.gov/pubmed/9180264 PubMed 9196039 http://www.ncbi.nlm.nih.gov/pubmed/9196039 PubMed 9305858 http://www.ncbi.nlm.nih.gov/pubmed/9305858 PubMed 9325252 http://www.ncbi.nlm.nih.gov/pubmed/9325252 PubMed 9498661 http://www.ncbi.nlm.nih.gov/pubmed/9498661 PubMed 9769326 http://www.ncbi.nlm.nih.gov/pubmed/9769326 Reactome R-HSA-167826 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-167826 Reactome R-HSA-167827 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-167827 RefSeq NP_003347 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_003347 RefSeq NP_073714 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_073714 STRING 9606.ENSP00000323740 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000323740&targetmode=cogs SUPFAM SSF103506 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103506 TCDB 2.A.29.3 http://www.tcdb.org/search/result.php?tc=2.A.29.3 UCSC uc001our http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001our&org=rat UniGene Hs.101337 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.101337 UniGene Hs.621879 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.621879 UniProtKB UCP3_HUMAN http://www.uniprot.org/uniprot/UCP3_HUMAN UniProtKB-AC P55916 http://www.uniprot.org/uniprot/P55916 charge swissprot:UCP3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:UCP3_HUMAN eggNOG ENOG410XRV1 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XRV1 eggNOG KOG0753 http://eggnogapi.embl.de/nog_data/html/tree/KOG0753 epestfind swissprot:UCP3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:UCP3_HUMAN garnier swissprot:UCP3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:UCP3_HUMAN helixturnhelix swissprot:UCP3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:UCP3_HUMAN hmoment swissprot:UCP3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:UCP3_HUMAN iep swissprot:UCP3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:UCP3_HUMAN inforesidue swissprot:UCP3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:UCP3_HUMAN neXtProt NX_P55916 http://www.nextprot.org/db/entry/NX_P55916 octanol swissprot:UCP3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:UCP3_HUMAN pepcoil swissprot:UCP3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:UCP3_HUMAN pepdigest swissprot:UCP3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:UCP3_HUMAN pepinfo swissprot:UCP3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:UCP3_HUMAN pepnet swissprot:UCP3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:UCP3_HUMAN pepstats swissprot:UCP3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:UCP3_HUMAN pepwheel swissprot:UCP3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:UCP3_HUMAN pepwindow swissprot:UCP3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:UCP3_HUMAN sigcleave swissprot:UCP3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:UCP3_HUMAN ## Database ID URL or Descriptions # AltName VIAAT_HUMAN GABA and glycine transporter # AltName VIAAT_HUMAN Solute carrier family 32 member 1 # AltName VIAAT_HUMAN Vesicular GABA transporter # BioGrid 126644 2 # DrugBank DB00145 Glycine # Ensembl ENST00000217420 ENSP00000217420; ENSG00000101438 # FUNCTION VIAAT_HUMAN Involved in the uptake of GABA and glycine into the synaptic vesicles. {ECO 0000250|UniProtKB O35458}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0030425 dendrite; IDA:MGI. # GO_component GO:0030672 synaptic vesicle membrane; TAS:Reactome. # GO_component GO:0043005 neuron projection; IDA:MGI. # GO_component GO:0044292 dendrite terminus; IEA:Ensembl. # GO_component GO:0044306 neuron projection terminus; IDA:MGI. # GO_component GO:0044316 cone cell pedicle; IEA:Ensembl. # GO_component GO:0048786 presynaptic active zone; IEA:Ensembl. # GO_component GO:0051286 cell tip; IEA:Ensembl. # GO_component GO:0060077 inhibitory synapse; IEA:Ensembl. # GO_component GO:0061202 clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane; TAS:Reactome. # GO_function GO:0015171 amino acid transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015187 glycine transmembrane transporter activity; IEA:Ensembl. # GO_function VIAAT_HUMAN GO 0005276 vesicular hydrogen amino acid antiporter activity; TAS Reactome. # GO_function VIAAT_HUMAN GO 0015495 gamma-aminobutyric acid proton symporter activity; IEA Ensembl. # GO_process GO:0003333 amino acid transmembrane transport; IBA:GO_Central. # GO_process GO:0006811 ion transport; TAS:Reactome. # GO_process GO:0007269 neurotransmitter secretion; TAS:Reactome. # GO_process GO:0007568 aging; IEA:Ensembl. # GO_process GO:0021766 hippocampus development; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007568 aging # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0055085 transmembrane transport # Genevisible Q9H598 HS # HGNC HGNC:11018 SLC32A1 # InterPro IPR013057 AA_transpt_TM # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02001 Solute carrier family # KEGG_Pathway ko04721 Synaptic vesicle cycle # KEGG_Pathway ko04723 Retrograde endocannabinoid signaling # KEGG_Pathway ko04727 GABAergic synapse # KEGG_Pathway ko05032 Morphine addiction # KEGG_Pathway ko05033 Nicotine addiction # MIM 616440 gene # Organism VIAAT_HUMAN Homo sapiens (Human) # Pfam PF01490 Aa_trans # Proteomes UP000005640 Chromosome 20 # Reactome R-HSA-425393 Transport of inorganic cations/anions and amino acids/oligopeptides # Reactome R-HSA-888590 GABA synthesis, release, reuptake and degradation # RecName VIAAT_HUMAN Vesicular inhibitory amino acid transporter # RefSeq NP_542119 NM_080552.2 # SEQUENCE CAUTION Sequence=AAH36458.2; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the amino acid/polyamine transporter 2 family. {ECO 0000305}. # SUBCELLULAR LOCATION VIAAT_HUMAN Cytoplasmic vesicle membrane {ECO 0000250|UniProtKB O35458}; Multi-pass membrane protein {ECO 0000255}. # TCDB 2.A.18.5 the amino acid/auxin permease (aaap) family # TISSUE SPECIFICITY Retina. Expressed throughout the horizontal cells or more specifically at the terminals. {ECO:0000269|PubMed 12115694}. # UCSC uc002xjc human # eggNOG COG0814 LUCA # eggNOG KOG4303 Eukaryota BLAST swissprot:VIAAT_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:VIAAT_HUMAN BioCyc ZFISH:MONOMER66-34359 http://biocyc.org/getid?id=ZFISH:MONOMER66-34359 COXPRESdb 140679 http://coxpresdb.jp/data/gene/140679.shtml CleanEx HS_SLC32A1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC32A1 DOI 10.1002/cne.10272 http://dx.doi.org/10.1002/cne.10272 DOI 10.1038/414865a http://dx.doi.org/10.1038/414865a DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.2337/diabetes.51.6.1763 http://dx.doi.org/10.2337/diabetes.51.6.1763 DrugBank DB00145 http://www.drugbank.ca/drugs/DB00145 EMBL AK055051 http://www.ebi.ac.uk/ena/data/view/AK055051 EMBL AL133519 http://www.ebi.ac.uk/ena/data/view/AL133519 EMBL AY044836 http://www.ebi.ac.uk/ena/data/view/AY044836 EMBL BC036458 http://www.ebi.ac.uk/ena/data/view/BC036458 EMBL BC053582 http://www.ebi.ac.uk/ena/data/view/BC053582 Ensembl ENST00000217420 http://www.ensembl.org/id/ENST00000217420 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0030425 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030425 GO_component GO:0030672 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030672 GO_component GO:0043005 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043005 GO_component GO:0044292 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044292 GO_component GO:0044306 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044306 GO_component GO:0044316 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044316 GO_component GO:0048786 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048786 GO_component GO:0051286 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051286 GO_component GO:0060077 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060077 GO_component GO:0061202 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061202 GO_function GO:0005276 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005276 GO_function GO:0015171 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015171 GO_function GO:0015187 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015187 GO_function GO:0015495 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015495 GO_process GO:0003333 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003333 GO_process GO:0006811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006811 GO_process GO:0007269 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007269 GO_process GO:0007568 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007568 GO_process GO:0021766 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021766 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007568 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007568 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC32A1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC32A1 GeneID 140679 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=140679 GeneTree ENSGT00490000043380 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00490000043380 HGNC HGNC:11018 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11018 HOGENOM HOG000220837 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000220837&db=HOGENOM6 HOVERGEN HBG061364 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG061364&db=HOVERGEN HPA CAB037156 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB037156 HPA HPA058859 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA058859 HPA HPA059985 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA059985 InParanoid Q9H598 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9H598 IntAct Q9H598 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9H598* InterPro IPR013057 http://www.ebi.ac.uk/interpro/entry/IPR013057 Jabion 140679 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=140679 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:140679 http://www.genome.jp/dbget-bin/www_bget?hsa:140679 KEGG_Orthology KO:K15015 http://www.genome.jp/dbget-bin/www_bget?KO:K15015 KEGG_Pathway ko04721 http://www.genome.jp/kegg-bin/show_pathway?ko04721 KEGG_Pathway ko04723 http://www.genome.jp/kegg-bin/show_pathway?ko04723 KEGG_Pathway ko04727 http://www.genome.jp/kegg-bin/show_pathway?ko04727 KEGG_Pathway ko05032 http://www.genome.jp/kegg-bin/show_pathway?ko05032 KEGG_Pathway ko05033 http://www.genome.jp/kegg-bin/show_pathway?ko05033 MIM 616440 http://www.ncbi.nlm.nih.gov/omim/616440 OMA ANACCSP http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=ANACCSP OrthoDB EOG091G05MY http://cegg.unige.ch/orthodb/results?searchtext=EOG091G05MY PSORT swissprot:VIAAT_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:VIAAT_HUMAN PSORT-B swissprot:VIAAT_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:VIAAT_HUMAN PSORT2 swissprot:VIAAT_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:VIAAT_HUMAN Pfam PF01490 http://pfam.xfam.org/family/PF01490 PharmGKB PA401 http://www.pharmgkb.org/do/serve?objId=PA401&objCls=Gene Phobius swissprot:VIAAT_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:VIAAT_HUMAN PhylomeDB Q9H598 http://phylomedb.org/?seqid=Q9H598 ProteinModelPortal Q9H598 http://www.proteinmodelportal.org/query/uniprot/Q9H598 PubMed 11780052 http://www.ncbi.nlm.nih.gov/pubmed/11780052 PubMed 12031963 http://www.ncbi.nlm.nih.gov/pubmed/12031963 PubMed 12115694 http://www.ncbi.nlm.nih.gov/pubmed/12115694 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 Reactome R-HSA-425393 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-425393 Reactome R-HSA-888590 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-888590 RefSeq NP_542119 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_542119 STRING 9606.ENSP00000217420 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000217420&targetmode=cogs TCDB 2.A.18.5 http://www.tcdb.org/search/result.php?tc=2.A.18.5 UCSC uc002xjc http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002xjc&org=rat UniGene Hs.179080 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.179080 UniProtKB VIAAT_HUMAN http://www.uniprot.org/uniprot/VIAAT_HUMAN UniProtKB-AC Q9H598 http://www.uniprot.org/uniprot/Q9H598 charge swissprot:VIAAT_HUMAN http://rest.g-language.org/emboss/charge/swissprot:VIAAT_HUMAN eggNOG COG0814 http://eggnogapi.embl.de/nog_data/html/tree/COG0814 eggNOG KOG4303 http://eggnogapi.embl.de/nog_data/html/tree/KOG4303 epestfind swissprot:VIAAT_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:VIAAT_HUMAN garnier swissprot:VIAAT_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:VIAAT_HUMAN helixturnhelix swissprot:VIAAT_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:VIAAT_HUMAN hmoment swissprot:VIAAT_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:VIAAT_HUMAN iep swissprot:VIAAT_HUMAN http://rest.g-language.org/emboss/iep/swissprot:VIAAT_HUMAN inforesidue swissprot:VIAAT_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:VIAAT_HUMAN neXtProt NX_Q9H598 http://www.nextprot.org/db/entry/NX_Q9H598 octanol swissprot:VIAAT_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:VIAAT_HUMAN pepcoil swissprot:VIAAT_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:VIAAT_HUMAN pepdigest swissprot:VIAAT_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:VIAAT_HUMAN pepinfo swissprot:VIAAT_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:VIAAT_HUMAN pepnet swissprot:VIAAT_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:VIAAT_HUMAN pepstats swissprot:VIAAT_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:VIAAT_HUMAN pepwheel swissprot:VIAAT_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:VIAAT_HUMAN pepwindow swissprot:VIAAT_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:VIAAT_HUMAN sigcleave swissprot:VIAAT_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:VIAAT_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS AT1A3_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=P13637-1; Sequence=Displayed; Name=2; IsoId=P13637-2; Sequence=VSP_046956; Name=3; IsoId=P13637-3; Sequence=VSP_046957; # AltName AT1A3_HUMAN Na(+)/K(+) ATPase alpha(III) subunit # AltName AT1A3_HUMAN Sodium pump subunit alpha-3 # BioGrid 106968 37 # CATALYTIC ACTIVITY AT1A3_HUMAN ATP + H(2)O + Na(+)(In) + K(+)(Out) = ADP + phosphate + Na(+)(Out) + K(+)(In). # CCDS CCDS12594 -. [P13637-1] # CCDS CCDS58663 -. [P13637-2] # CCDS CCDS58664 -. [P13637-3] # ChiTaRS ATP1A3 human # DISEASE AT1A3_HUMAN Alternating hemiplegia of childhood 2 (AHC2) [MIM 614820] A rare syndrome of episodic hemi- or quadriplegia lasting minutes to days. Most cases are accompanied by dystonic posturing, choreoathetoid movements, nystagmus, other ocular motor abnormalities, autonomic disturbances, and progressive cognitive impairment. It is typically distinguished from familial hemiplegic migraine by infantile onset and high prevalence of associated neurological deficits that become increasingly obvious with age. {ECO 0000269|PubMed 22842232, ECO 0000269|PubMed 22850527, ECO 0000269|PubMed 23409136}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE AT1A3_HUMAN Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) [MIM 601338] An autosomal dominant neurologic disorder characterized by relapsing and partially remitting, early-onset cerebellar ataxia following a febrile illness. Other features include progressive optic atrophy and sensorineural hearing loss, generalized hypotonia, areflexia and pes cavus without evidence of a peripheral neuropathy on neurophysiological studies. {ECO 0000269|PubMed 24468074}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE AT1A3_HUMAN Dystonia 12 (DYT12) [MIM 128235] An autosomal dominant dystonia-parkinsonism disorder. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DYT12 patients develop dystonia and parkinsonism between 15 and 45 years of age. The disease is characterized by an unusually rapid evolution of signs and symptoms. The sudden onset of symptoms over hours to a few weeks, often associated with physical or emotional stress, suggests a trigger initiating a nervous system insult resulting in permanent neurologic disability. {ECO 0000269|PubMed 15260953, ECO 0000269|PubMed 19351654, ECO 0000269|PubMed 19652145}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000302102 ENSP00000302397; ENSG00000105409. [P13637-1] # Ensembl ENST00000543770 ENSP00000437577; ENSG00000105409. [P13637-2] # Ensembl ENST00000545399 ENSP00000444688; ENSG00000105409. [P13637-3] # ExpressionAtlas P13637 baseline and differential # FUNCTION AT1A3_HUMAN This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of sodium and potassium ions, providing the energy for active transport of various nutrients. # GO_component AT1A3_HUMAN GO 0005890 sodium potassium-exchanging ATPase complex; IC UniProtKB. # GO_component GO:0005634 nucleus; IEA:Ensembl. # GO_component GO:0005783 endoplasmic reticulum; IDA:UniProtKB. # GO_component GO:0005794 Golgi apparatus; IDA:UniProtKB. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; NAS:UniProtKB. # GO_component GO:0030424 axon; IEA:Ensembl. # GO_component GO:0042383 sarcolemma; IEA:Ensembl. # GO_component GO:0043209 myelin sheath; IEA:Ensembl. # GO_component GO:0044326 dendritic spine neck; IEA:Ensembl. # GO_component GO:0044327 dendritic spine head; IEA:Ensembl. # GO_component GO:0045202 synapse; ISS:UniProtKB. # GO_component GO:1903561 extracellular vesicle; IDA:UniProtKB. # GO_function AT1A3_HUMAN GO 0005391 sodium potassium-exchanging ATPase activity; IMP UniProtKB. # GO_function AT1A3_HUMAN GO 0086037 sodium potassium-exchanging ATPase activity involved in regulation of cardiac muscle cell membrane potential; IEA Ensembl. # GO_function GO:0005524 ATP binding; NAS:UniProtKB. # GO_function GO:0043395 heparan sulfate proteoglycan binding; IEA:Ensembl. # GO_function GO:0046872 metal ion binding; IEA:UniProtKB-KW. # GO_function GO:0051087 chaperone binding; IPI:BHF-UCL. # GO_function GO:1990239 steroid hormone binding; NAS:BHF-UCL. # GO_process GO:0006883 cellular sodium ion homeostasis; IDA:BHF-UCL. # GO_process GO:0007613 memory; IEA:Ensembl. # GO_process GO:0008344 adult locomotory behavior; IEA:Ensembl. # GO_process GO:0008542 visual learning; IEA:Ensembl. # GO_process GO:0010107 potassium ion import; IDA:BHF-UCL. # GO_process GO:0015991 ATP hydrolysis coupled proton transport; IBA:GO_Central. # GO_process GO:0030007 cellular potassium ion homeostasis; IDA:BHF-UCL. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0035235 ionotropic glutamate receptor signaling pathway; IEA:Ensembl. # GO_process GO:0036376 sodium ion export from cell; IDA:BHF-UCL. # GO_process GO:0042493 response to drug; IEA:Ensembl. # GO_process GO:0060048 cardiac muscle contraction; IEA:Ensembl. # GO_process GO:0071383 cellular response to steroid hormone stimulus; NAS:BHF-UCL. # GO_process GO:0086064 cell communication by electrical coupling involved in cardiac conduction; TAS:BHF-UCL. # GO_process GO:1903416 response to glycoside; NAS:BHF-UCL. # GO_process GO:1903779 regulation of cardiac conduction; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_component GO:0005794 Golgi apparatus # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0008289 lipid binding # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0050877 neurological system process # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.20.1110.10 -; 2. # Gene3D 2.70.150.10 -; 2. # Gene3D 3.40.1110.10 -; 1. # Genevisible P13637 HS # HGNC HGNC:801 ATP1A3 # IntAct P13637 6 # InterPro IPR001757 P_typ_ATPase # InterPro IPR004014 ATPase_P-typ_cation-transptr_N # InterPro IPR005775 P-type_ATPase_IIC # InterPro IPR006068 ATPase_P-typ_cation-transptr_C # InterPro IPR008250 ATPase_P-typ_transduc_dom_A # InterPro IPR018303 ATPase_P-typ_P_site # InterPro IPR023214 HAD-like_dom # InterPro IPR023298 ATPase_P-typ_TM_dom # InterPro IPR023299 ATPase_P-typ_cyto_domN # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko01000 Enzymes # KEGG_Disease H00831 [Nervous system disease] Primary dystonia # KEGG_Pathway ko04260 Cardiac muscle contraction # KEGG_Pathway ko04960 Aldosterone-regulated sodium reabsorption # KEGG_Pathway ko04961 Endocrine and other factor-regulated calcium reabsorption # KEGG_Pathway ko04964 Proximal tubule bicarbonate reclamation # KEGG_Pathway ko04970 Salivary secretion # KEGG_Pathway ko04971 Gastric acid secretion # KEGG_Pathway ko04972 Pancreatic secretion # KEGG_Pathway ko04973 Carbohydrate digestion and absorption # KEGG_Pathway ko04974 Protein digestion and absorption # KEGG_Pathway ko04976 Bile secretion # KEGG_Pathway ko04978 Mineral absorption # MIM 128235 phenotype # MIM 182350 gene # MIM 601338 phenotype # MIM 614820 phenotype # Organism AT1A3_HUMAN Homo sapiens (Human) # Orphanet 1171 Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss # Orphanet 2131 Alternating hemiplegia of childhood # Orphanet 71517 Rapid-onset dystonia-parkinsonism # PIR S00801 S00801 # PROSITE PS00154 ATPASE_E1_E2 # Pfam PF00122 E1-E2_ATPase # Pfam PF00689 Cation_ATPase_C # Pfam PF00690 Cation_ATPase_N # Proteomes UP000005640 Chromosome 19 # Reactome R-HSA-5578775 Ion homeostasis # Reactome R-HSA-936837 Ion transport by P-type ATPases # RecName AT1A3_HUMAN Sodium/potassium-transporting ATPase subunit alpha-3 # RefSeq NP_001243142 NM_001256213.1. [P13637-2] # RefSeq NP_001243143 NM_001256214.1. [P13637-3] # RefSeq NP_689509 NM_152296.4. [P13637-1] # SIMILARITY Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIC subfamily. {ECO 0000305}. # SMART SM00831 Cation_ATPase_N # SUBCELLULAR LOCATION AT1A3_HUMAN Cell membrane {ECO 0000269|PubMed 7711835}; Multi-pass membrane protein {ECO 0000269|PubMed 7711835}. # SUBUNIT Composed of three subunits alpha (catalytic), beta and gamma. # SUPFAM SSF56784 SSF56784; 3 # SUPFAM SSF81660 SSF81660 # TCDB 3.A.3.1 the p-type atpase (p-atpase) superfamily # TIGRFAMs TIGR01106 ATPase-IIC_X-K # TIGRFAMs TIGR01494 ATPase_P-type; 2 # UCSC uc002osg human. [P13637-1] # eggNOG COG0474 LUCA # eggNOG KOG0203 Eukaryota BLAST swissprot:AT1A3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:AT1A3_HUMAN BioCyc ZFISH:HS02735-MONOMER http://biocyc.org/getid?id=ZFISH:HS02735-MONOMER COXPRESdb 478 http://coxpresdb.jp/data/gene/478.shtml CleanEx HS_ATP1A3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ATP1A3 DOI 10.1016/0014-5793(87)80677-4 http://dx.doi.org/10.1016/0014-5793(87)80677-4 DOI 10.1016/0014-5793(87)81467-9 http://dx.doi.org/10.1016/0014-5793(87)81467-9 DOI 10.1016/0014-5793(88)81361-9 http://dx.doi.org/10.1016/0014-5793(88)81361-9 DOI 10.1016/S1474-4422(12)70182-5 http://dx.doi.org/10.1016/S1474-4422(12)70182-5 DOI 10.1016/j.neuron.2004.06.028 http://dx.doi.org/10.1016/j.neuron.2004.06.028 DOI 10.1038/nature02399 http://dx.doi.org/10.1038/nature02399 DOI 10.1038/ng.2358 http://dx.doi.org/10.1038/ng.2358 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1093/hmg/ddp170 http://dx.doi.org/10.1093/hmg/ddp170 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1750-1172-9-15 http://dx.doi.org/10.1186/1750-1172-9-15 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DOI 10.1212/WNL.0b013e3181b04acd http://dx.doi.org/10.1212/WNL.0b013e3181b04acd DOI 10.1371/journal.pone.0056120 http://dx.doi.org/10.1371/journal.pone.0056120 DOI 10.3109/09687689409160435 http://dx.doi.org/10.3109/09687689409160435 EC_number EC:3.6.3.9 http://www.genome.jp/dbget-bin/www_bget?EC:3.6.3.9 EMBL AC010616 http://www.ebi.ac.uk/ena/data/view/AC010616 EMBL AK295078 http://www.ebi.ac.uk/ena/data/view/AK295078 EMBL AK296557 http://www.ebi.ac.uk/ena/data/view/AK296557 EMBL BC009282 http://www.ebi.ac.uk/ena/data/view/BC009282 EMBL BC009394 http://www.ebi.ac.uk/ena/data/view/BC009394 EMBL BC015566 http://www.ebi.ac.uk/ena/data/view/BC015566 EMBL M27570 http://www.ebi.ac.uk/ena/data/view/M27570 EMBL M27573 http://www.ebi.ac.uk/ena/data/view/M27573 EMBL M27577 http://www.ebi.ac.uk/ena/data/view/M27577 EMBL M28284 http://www.ebi.ac.uk/ena/data/view/M28284 EMBL M28285 http://www.ebi.ac.uk/ena/data/view/M28285 EMBL M28286 http://www.ebi.ac.uk/ena/data/view/M28286 EMBL M28287 http://www.ebi.ac.uk/ena/data/view/M28287 EMBL M28289 http://www.ebi.ac.uk/ena/data/view/M28289 EMBL M28290 http://www.ebi.ac.uk/ena/data/view/M28290 EMBL M28291 http://www.ebi.ac.uk/ena/data/view/M28291 EMBL M28292 http://www.ebi.ac.uk/ena/data/view/M28292 EMBL M28293 http://www.ebi.ac.uk/ena/data/view/M28293 EMBL M35821 http://www.ebi.ac.uk/ena/data/view/M35821 EMBL M35822 http://www.ebi.ac.uk/ena/data/view/M35822 EMBL M37436 http://www.ebi.ac.uk/ena/data/view/M37436 EMBL M37437 http://www.ebi.ac.uk/ena/data/view/M37437 EMBL M37438 http://www.ebi.ac.uk/ena/data/view/M37438 EMBL M37439 http://www.ebi.ac.uk/ena/data/view/M37439 EMBL M37440 http://www.ebi.ac.uk/ena/data/view/M37440 EMBL M37441 http://www.ebi.ac.uk/ena/data/view/M37441 EMBL M37442 http://www.ebi.ac.uk/ena/data/view/M37442 EMBL M37443 http://www.ebi.ac.uk/ena/data/view/M37443 EMBL M37444 http://www.ebi.ac.uk/ena/data/view/M37444 EMBL M37445 http://www.ebi.ac.uk/ena/data/view/M37445 EMBL M37447 http://www.ebi.ac.uk/ena/data/view/M37447 EMBL M37448 http://www.ebi.ac.uk/ena/data/view/M37448 EMBL M37449 http://www.ebi.ac.uk/ena/data/view/M37449 EMBL M37450 http://www.ebi.ac.uk/ena/data/view/M37450 EMBL M37451 http://www.ebi.ac.uk/ena/data/view/M37451 EMBL M37452 http://www.ebi.ac.uk/ena/data/view/M37452 EMBL M37453 http://www.ebi.ac.uk/ena/data/view/M37453 EMBL M37454 http://www.ebi.ac.uk/ena/data/view/M37454 EMBL M37455 http://www.ebi.ac.uk/ena/data/view/M37455 EMBL M37456 http://www.ebi.ac.uk/ena/data/view/M37456 EMBL M37457 http://www.ebi.ac.uk/ena/data/view/M37457 EMBL M37462 http://www.ebi.ac.uk/ena/data/view/M37462 EMBL X12910 http://www.ebi.ac.uk/ena/data/view/X12910 EMBL X12911 http://www.ebi.ac.uk/ena/data/view/X12911 EMBL X12912 http://www.ebi.ac.uk/ena/data/view/X12912 EMBL X12913 http://www.ebi.ac.uk/ena/data/view/X12913 EMBL X12914 http://www.ebi.ac.uk/ena/data/view/X12914 EMBL X12915 http://www.ebi.ac.uk/ena/data/view/X12915 EMBL X12916 http://www.ebi.ac.uk/ena/data/view/X12916 EMBL X12917 http://www.ebi.ac.uk/ena/data/view/X12917 EMBL X12919 http://www.ebi.ac.uk/ena/data/view/X12919 EMBL X12920 http://www.ebi.ac.uk/ena/data/view/X12920 EMBL X12921 http://www.ebi.ac.uk/ena/data/view/X12921 EMBL X12922 http://www.ebi.ac.uk/ena/data/view/X12922 EMBL X12923 http://www.ebi.ac.uk/ena/data/view/X12923 ENZYME 3.6.3.9 http://enzyme.expasy.org/EC/3.6.3.9 Ensembl ENST00000302102 http://www.ensembl.org/id/ENST00000302102 Ensembl ENST00000543770 http://www.ensembl.org/id/ENST00000543770 Ensembl ENST00000545399 http://www.ensembl.org/id/ENST00000545399 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GO_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005890 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005890 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0030424 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030424 GO_component GO:0042383 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042383 GO_component GO:0043209 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043209 GO_component GO:0044326 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044326 GO_component GO:0044327 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044327 GO_component GO:0045202 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045202 GO_component GO:1903561 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903561 GO_function GO:0005391 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005391 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0043395 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043395 GO_function GO:0046872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046872 GO_function GO:0051087 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051087 GO_function GO:0086037 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086037 GO_function GO:1990239 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1990239 GO_process GO:0006883 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006883 GO_process GO:0007613 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007613 GO_process GO:0008344 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008344 GO_process GO:0008542 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008542 GO_process GO:0010107 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010107 GO_process GO:0015991 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015991 GO_process GO:0030007 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030007 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0035235 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035235 GO_process GO:0036376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0036376 GO_process GO:0042493 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042493 GO_process GO:0060048 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060048 GO_process GO:0071383 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071383 GO_process GO:0086064 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086064 GO_process GO:1903416 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903416 GO_process GO:1903779 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903779 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0008289 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008289 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.20.1110.10 http://www.cathdb.info/version/latest/superfamily/1.20.1110.10 Gene3D 2.70.150.10 http://www.cathdb.info/version/latest/superfamily/2.70.150.10 Gene3D 3.40.1110.10 http://www.cathdb.info/version/latest/superfamily/3.40.1110.10 GeneCards ATP1A3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ATP1A3 GeneID 478 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=478 GeneTree ENSGT00850000132256 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00850000132256 HGNC HGNC:801 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:801 HOGENOM HOG000265622 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000265622&db=HOGENOM6 HOVERGEN HBG004298 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG004298&db=HOVERGEN HPA CAB033630 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB033630 HPA HPA045367 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA045367 HPA HPA056446 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA056446 InParanoid P13637 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P13637 IntAct P13637 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P13637* IntEnz 3.6.3.9 http://www.ebi.ac.uk/intenz/query?cmd=Search&q=3.6.3.9 InterPro IPR001757 http://www.ebi.ac.uk/interpro/entry/IPR001757 InterPro IPR004014 http://www.ebi.ac.uk/interpro/entry/IPR004014 InterPro IPR005775 http://www.ebi.ac.uk/interpro/entry/IPR005775 InterPro IPR006068 http://www.ebi.ac.uk/interpro/entry/IPR006068 InterPro IPR008250 http://www.ebi.ac.uk/interpro/entry/IPR008250 InterPro IPR018303 http://www.ebi.ac.uk/interpro/entry/IPR018303 InterPro IPR023214 http://www.ebi.ac.uk/interpro/entry/IPR023214 InterPro IPR023298 http://www.ebi.ac.uk/interpro/entry/IPR023298 InterPro IPR023299 http://www.ebi.ac.uk/interpro/entry/IPR023299 Jabion 478 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=478 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Disease H00831 http://www.genome.jp/dbget-bin/www_bget?H00831 KEGG_Gene hsa:478 http://www.genome.jp/dbget-bin/www_bget?hsa:478 KEGG_Orthology KO:K01539 http://www.genome.jp/dbget-bin/www_bget?KO:K01539 KEGG_Pathway ko04260 http://www.genome.jp/kegg-bin/show_pathway?ko04260 KEGG_Pathway ko04960 http://www.genome.jp/kegg-bin/show_pathway?ko04960 KEGG_Pathway ko04961 http://www.genome.jp/kegg-bin/show_pathway?ko04961 KEGG_Pathway ko04964 http://www.genome.jp/kegg-bin/show_pathway?ko04964 KEGG_Pathway ko04970 http://www.genome.jp/kegg-bin/show_pathway?ko04970 KEGG_Pathway ko04971 http://www.genome.jp/kegg-bin/show_pathway?ko04971 KEGG_Pathway ko04972 http://www.genome.jp/kegg-bin/show_pathway?ko04972 KEGG_Pathway ko04973 http://www.genome.jp/kegg-bin/show_pathway?ko04973 KEGG_Pathway ko04974 http://www.genome.jp/kegg-bin/show_pathway?ko04974 KEGG_Pathway ko04976 http://www.genome.jp/kegg-bin/show_pathway?ko04976 KEGG_Pathway ko04978 http://www.genome.jp/kegg-bin/show_pathway?ko04978 MIM 128235 http://www.ncbi.nlm.nih.gov/omim/128235 MIM 182350 http://www.ncbi.nlm.nih.gov/omim/182350 MIM 601338 http://www.ncbi.nlm.nih.gov/omim/601338 MIM 614820 http://www.ncbi.nlm.nih.gov/omim/614820 MINT MINT-2857038 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-2857038 Orphanet 1171 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1171 Orphanet 2131 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=2131 Orphanet 71517 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=71517 OrthoDB EOG091G01BB http://cegg.unige.ch/orthodb/results?searchtext=EOG091G01BB PROSITE PS00154 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00154 PSORT swissprot:AT1A3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:AT1A3_HUMAN PSORT-B swissprot:AT1A3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:AT1A3_HUMAN PSORT2 swissprot:AT1A3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:AT1A3_HUMAN Pfam PF00122 http://pfam.xfam.org/family/PF00122 Pfam PF00689 http://pfam.xfam.org/family/PF00689 Pfam PF00690 http://pfam.xfam.org/family/PF00690 PharmGKB PA64 http://www.pharmgkb.org/do/serve?objId=PA64&objCls=Gene Phobius swissprot:AT1A3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:AT1A3_HUMAN PhylomeDB P13637 http://phylomedb.org/?seqid=P13637 ProteinModelPortal P13637 http://www.proteinmodelportal.org/query/uniprot/P13637 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15057824 http://www.ncbi.nlm.nih.gov/pubmed/15057824 PubMed 15260953 http://www.ncbi.nlm.nih.gov/pubmed/15260953 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 19351654 http://www.ncbi.nlm.nih.gov/pubmed/19351654 PubMed 19652145 http://www.ncbi.nlm.nih.gov/pubmed/19652145 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 22842232 http://www.ncbi.nlm.nih.gov/pubmed/22842232 PubMed 22850527 http://www.ncbi.nlm.nih.gov/pubmed/22850527 PubMed 23409136 http://www.ncbi.nlm.nih.gov/pubmed/23409136 PubMed 24468074 http://www.ncbi.nlm.nih.gov/pubmed/24468074 PubMed 2834163 http://www.ncbi.nlm.nih.gov/pubmed/2834163 PubMed 2838329 http://www.ncbi.nlm.nih.gov/pubmed/2838329 PubMed 3030810 http://www.ncbi.nlm.nih.gov/pubmed/3030810 PubMed 3036582 http://www.ncbi.nlm.nih.gov/pubmed/3036582 PubMed 7711835 http://www.ncbi.nlm.nih.gov/pubmed/7711835 Reactome R-HSA-5578775 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5578775 Reactome R-HSA-936837 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-936837 RefSeq NP_001243142 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001243142 RefSeq NP_001243143 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001243143 RefSeq NP_689509 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_689509 SMART SM00831 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00831 SMR P13637 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P13637 STRING 9606.ENSP00000302397 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000302397&targetmode=cogs SUPFAM SSF56784 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF56784 SUPFAM SSF81660 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81660 TCDB 3.A.3.1 http://www.tcdb.org/search/result.php?tc=3.A.3.1 TIGRFAMs TIGR01106 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01106 TIGRFAMs TIGR01494 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01494 UCSC uc002osg http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002osg&org=rat UniGene Hs.515427 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.515427 UniProtKB AT1A3_HUMAN http://www.uniprot.org/uniprot/AT1A3_HUMAN UniProtKB-AC P13637 http://www.uniprot.org/uniprot/P13637 charge swissprot:AT1A3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:AT1A3_HUMAN eggNOG COG0474 http://eggnogapi.embl.de/nog_data/html/tree/COG0474 eggNOG KOG0203 http://eggnogapi.embl.de/nog_data/html/tree/KOG0203 epestfind swissprot:AT1A3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:AT1A3_HUMAN garnier swissprot:AT1A3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:AT1A3_HUMAN helixturnhelix swissprot:AT1A3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:AT1A3_HUMAN hmoment swissprot:AT1A3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:AT1A3_HUMAN iep swissprot:AT1A3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:AT1A3_HUMAN inforesidue swissprot:AT1A3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:AT1A3_HUMAN neXtProt NX_P13637 http://www.nextprot.org/db/entry/NX_P13637 octanol swissprot:AT1A3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:AT1A3_HUMAN pepcoil swissprot:AT1A3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:AT1A3_HUMAN pepdigest swissprot:AT1A3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:AT1A3_HUMAN pepinfo swissprot:AT1A3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:AT1A3_HUMAN pepnet swissprot:AT1A3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:AT1A3_HUMAN pepstats swissprot:AT1A3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:AT1A3_HUMAN pepwheel swissprot:AT1A3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:AT1A3_HUMAN pepwindow swissprot:AT1A3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:AT1A3_HUMAN sigcleave swissprot:AT1A3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:AT1A3_HUMAN ## Database ID URL or Descriptions # AltName MRP2_HUMAN ATP-binding cassette sub-family C member 2 # AltName MRP2_HUMAN Canalicular multidrug resistance protein # AltName MRP2_HUMAN Multidrug resistance-associated protein 2 # BioGrid 107647 45 # ChiTaRS ABCC2 human # DISEASE MRP2_HUMAN Dubin-Johnson syndrome (DJS) [MIM 237500] Autosomal recessive disorder characterized by conjugated hyperbilirubinemia, an increase in the urinary excretion of coproporphyrin isomer I, deposition of melanin-like pigment in hepatocytes, and prolonged retention of sulfobromophthalein, but otherwise normal liver function. {ECO 0000269|PubMed 10053008, ECO 0000269|PubMed 10464142, ECO 0000269|PubMed 11266082, ECO 0000269|PubMed 11477083, ECO 0000269|PubMed 25336012, ECO 0000269|PubMed 9425227}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DrugBank DB00067 Vasopressin # DrugBank DB00091 Cyclosporine # DrugBank DB00116 Tetrahydrofolic acid # DrugBank DB00143 Glutathione # DrugBank DB00171 Adenosine triphosphate # DrugBank DB00175 Pravastatin # DrugBank DB00206 Reserpine # DrugBank DB00224 Indinavir # DrugBank DB00227 Lovastatin # DrugBank DB00252 Phenytoin # DrugBank DB00257 Clotrimazole # DrugBank DB00275 Olmesartan # DrugBank DB00286 Conjugated Estrogens # DrugBank DB00300 Tenofovir # DrugBank DB00328 Indomethacin # DrugBank DB00345 Aminohippurate # DrugBank DB00398 Sorafenib # DrugBank DB00421 Spironolactone # DrugBank DB00503 Ritonavir # DrugBank DB00515 Cisplatin # DrugBank DB00526 Oxaliplatin # DrugBank DB00541 Vincristine # DrugBank DB00563 Methotrexate # DrugBank DB00564 Carbamazepine # DrugBank DB00570 Vinblastine # DrugBank DB00602 Ivermectin # DrugBank DB00641 Simvastatin # DrugBank DB00650 Leucovorin # DrugBank DB00661 Verapamil # DrugBank DB00675 Tamoxifen # DrugBank DB00688 Mycophenolate mofetil # DrugBank DB00694 Daunorubicin # DrugBank DB00695 Furosemide # DrugBank DB00709 Lamivudine # DrugBank DB00762 Irinotecan # DrugBank DB00773 Etoposide # DrugBank DB00795 Sulfasalazine # DrugBank DB00876 Eprosartan # DrugBank DB00908 Quinidine # DrugBank DB00957 Norgestimate # DrugBank DB00958 Carboplatin # DrugBank DB00966 Telmisartan # DrugBank DB00973 Ezetimibe # DrugBank DB00977 Ethinyl Estradiol # DrugBank DB00978 Lomefloxacin # DrugBank DB00997 Doxorubicin # DrugBank DB01016 Glyburide # DrugBank DB01032 Probenecid # DrugBank DB01045 Rifampicin # DrugBank DB01076 Atorvastatin # DrugBank DB01115 Nifedipine # DrugBank DB01138 Sulfinpyrazone # DrugBank DB01165 Ofloxacin # DrugBank DB01169 Arsenic trioxide # DrugBank DB01174 Phenobarbital # DrugBank DB01202 Levetiracetam # DrugBank DB01208 Sparfloxacin # DrugBank DB01229 Paclitaxel # DrugBank DB01232 Saquinavir # DrugBank DB01234 Dexamethasone # DrugBank DB01248 Docetaxel # DrugBank DB01268 Sunitinib # DrugBank DB01411 Pranlukast # DrugBank DB01586 Ursodeoxycholic acid # DrugBank DB02659 Cholic Acid # DrugBank DB02703 Fusidic Acid # DrugBank DB08860 Pitavastatin # DrugBank DB08884 Gadoxetate # DrugBank DB08907 Canagliflozin # DrugBank DB09060 Avibactam # DrugBank DB09272 Eluxadoline # Ensembl ENST00000370449 ENSP00000359478; ENSG00000023839 # ExpressionAtlas Q92887 baseline and differential # FUNCTION MRP2_HUMAN Mediates hepatobiliary excretion of numerous organic anions. May function as a cellular cisplatin transporter. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0009986 cell surface; IDA:UniProtKB. # GO_component GO:0016324 apical plasma membrane; IDA:UniProtKB. # GO_component GO:0046581 intercellular canaliculus; IEA:Ensembl. # GO_function GO:0005524 ATP binding; IEA:UniProtKB-KW. # GO_function GO:0008514 organic anion transmembrane transporter activity; TAS:ProtInc. # GO_function GO:0015127 bilirubin transmembrane transporter activity; TAS:Reactome. # GO_function GO:0042626 ATPase activity, coupled to transmembrane movement of substances; TAS:ProtInc. # GO_function GO:0043225 ATPase-coupled anion transmembrane transporter activity; TAS:Reactome. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0006855 drug transmembrane transport; IEA:Ensembl. # GO_process GO:0006979 response to oxidative stress; IEA:Ensembl. # GO_process GO:0009408 response to heat; IEA:Ensembl. # GO_process GO:0015732 prostaglandin transport; IEA:Ensembl. # GO_process GO:0030644 cellular chloride ion homeostasis; IEA:Ensembl. # GO_process GO:0031427 response to methotrexate; IEA:Ensembl. # GO_process GO:0043627 response to estrogen; IEA:Ensembl. # GO_process GO:0046685 response to arsenic-containing substance; IEA:Ensembl. # GO_process GO:0048545 response to steroid hormone; IEA:Ensembl. # GO_process GO:0055085 transmembrane transport; TAS:Reactome. # GO_process GO:0070327 thyroid hormone transport; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 3.40.50.300 -; 2. # Genevisible Q92887 HS # HGNC HGNC:53 ABCC2 # INTERACTION MRP2_HUMAN P19838 NFKB1; NbExp=3; IntAct=EBI-3916193, EBI-300010; # IntAct Q92887 5 # InterPro IPR003439 ABC_transporter-like # InterPro IPR003593 AAA+_ATPase # InterPro IPR005292 Multidrug-R_assoc # InterPro IPR011527 ABC1_TM_dom # InterPro IPR017871 ABC_transporter_CS # InterPro IPR027417 P-loop_NTPase # InterPro IPR030247 ABCC2 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02000 Transporters # KEGG_Disease H00208 [Inherited metabolic disease; Liver disease] Dubin-Johnson syndrome (DJS) # KEGG_Pathway ko02010 ABC transporters # KEGG_Pathway ko04976 Bile secretion # MIM 237500 phenotype # MIM 601107 gene # Organism MRP2_HUMAN Homo sapiens (Human) # Orphanet 234 Dubin-Johnson syndrome # PANTHER PTHR24223:SF176 PTHR24223:SF176; 2 # PIR S71841 S71841 # PROSITE PS00211 ABC_TRANSPORTER_1 # PROSITE PS50893 ABC_TRANSPORTER_2; 2 # PROSITE PS50929 ABC_TM1F; 2 # Pfam PF00005 ABC_tran; 2 # Pfam PF00664 ABC_membrane; 2 # Proteomes UP000005640 Chromosome 10 # Reactome R-HSA-382556 ABC-family proteins mediated transport # RecName MRP2_HUMAN Canalicular multispecific organic anion transporter 1 # RefSeq NP_000383 NM_000392.4 # SIMILARITY Belongs to the ABC transporter superfamily. ABCC family. Conjugate transporter (TC 3.A.1.208) subfamily. {ECO 0000305}. # SIMILARITY Contains 2 ABC transmembrane type-1 domains. {ECO:0000255|PROSITE-ProRule PRU00441}. # SIMILARITY Contains 2 ABC transporter domains. {ECO:0000255|PROSITE-ProRule PRU00434}. # SMART SM00382 AAA; 2 # SUBCELLULAR LOCATION MRP2_HUMAN Apical cell membrane {ECO 0000269|PubMed 11093739}; Multi-pass membrane protein {ECO 0000255|PROSITE-ProRule PRU00441, ECO 0000269|PubMed 11093739}. # SUPFAM SSF52540 SSF52540; 2 # SUPFAM SSF90123 SSF90123; 2 # TCDB 3.A.1.208 the atp-binding cassette (abc) superfamily # TIGRFAMs TIGR00957 MRP_assoc_pro # TISSUE SPECIFICITY MRP2_HUMAN Expressed by polarized cells in liver, kidney and intestine. The highest expression is found in liver. # UCSC uc001kqf human # WEB RESOURCE MRP2_HUMAN Name=ABCMdb; Note=Database for mutations in ABC proteins; URL="http //abcmutations.hegelab.org/proteinDetails?uniprot_id=Q92887"; # eggNOG COG1132 LUCA # eggNOG KOG0054 Eukaryota BLAST swissprot:MRP2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:MRP2_HUMAN BioCyc ZFISH:ENSG00000023839-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000023839-MONOMER COXPRESdb 1244 http://coxpresdb.jp/data/gene/1244.shtml CleanEx HS_ABCC2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ABCC2 DOI 10.1002/humu.22041 http://dx.doi.org/10.1002/humu.22041 DOI 10.1016/S0016-5085(99)70459-2 http://dx.doi.org/10.1016/S0016-5085(99)70459-2 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1016/j.molcel.2008.07.007 http://dx.doi.org/10.1016/j.molcel.2008.07.007 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature02462 http://dx.doi.org/10.1038/nature02462 DOI 10.1053/jhep.2000.19791 http://dx.doi.org/10.1053/jhep.2000.19791 DOI 10.1055/s-2000-9391 http://dx.doi.org/10.1055/s-2000-9391 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1074/jbc.271.25.15091 http://dx.doi.org/10.1074/jbc.271.25.15091 DOI 10.1074/jbc.M105047200 http://dx.doi.org/10.1074/jbc.M105047200 DOI 10.1074/jbc.M105160200 http://dx.doi.org/10.1074/jbc.M105160200 DOI 10.1086/302292 http://dx.doi.org/10.1086/302292 DOI 10.1093/hmg/7.2.203 http://dx.doi.org/10.1093/hmg/7.2.203 DOI 10.1097/00008571-200103000-00008 http://dx.doi.org/10.1097/00008571-200103000-00008 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/ped.12404 http://dx.doi.org/10.1111/ped.12404 DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DrugBank DB00067 http://www.drugbank.ca/drugs/DB00067 DrugBank DB00091 http://www.drugbank.ca/drugs/DB00091 DrugBank DB00116 http://www.drugbank.ca/drugs/DB00116 DrugBank DB00143 http://www.drugbank.ca/drugs/DB00143 DrugBank DB00171 http://www.drugbank.ca/drugs/DB00171 DrugBank DB00175 http://www.drugbank.ca/drugs/DB00175 DrugBank DB00206 http://www.drugbank.ca/drugs/DB00206 DrugBank DB00224 http://www.drugbank.ca/drugs/DB00224 DrugBank DB00227 http://www.drugbank.ca/drugs/DB00227 DrugBank DB00252 http://www.drugbank.ca/drugs/DB00252 DrugBank DB00257 http://www.drugbank.ca/drugs/DB00257 DrugBank DB00275 http://www.drugbank.ca/drugs/DB00275 DrugBank DB00286 http://www.drugbank.ca/drugs/DB00286 DrugBank DB00300 http://www.drugbank.ca/drugs/DB00300 DrugBank DB00328 http://www.drugbank.ca/drugs/DB00328 DrugBank DB00345 http://www.drugbank.ca/drugs/DB00345 DrugBank DB00398 http://www.drugbank.ca/drugs/DB00398 DrugBank DB00421 http://www.drugbank.ca/drugs/DB00421 DrugBank DB00503 http://www.drugbank.ca/drugs/DB00503 DrugBank DB00515 http://www.drugbank.ca/drugs/DB00515 DrugBank DB00526 http://www.drugbank.ca/drugs/DB00526 DrugBank DB00541 http://www.drugbank.ca/drugs/DB00541 DrugBank DB00563 http://www.drugbank.ca/drugs/DB00563 DrugBank DB00564 http://www.drugbank.ca/drugs/DB00564 DrugBank DB00570 http://www.drugbank.ca/drugs/DB00570 DrugBank DB00602 http://www.drugbank.ca/drugs/DB00602 DrugBank DB00641 http://www.drugbank.ca/drugs/DB00641 DrugBank DB00650 http://www.drugbank.ca/drugs/DB00650 DrugBank DB00661 http://www.drugbank.ca/drugs/DB00661 DrugBank DB00675 http://www.drugbank.ca/drugs/DB00675 DrugBank DB00688 http://www.drugbank.ca/drugs/DB00688 DrugBank DB00694 http://www.drugbank.ca/drugs/DB00694 DrugBank DB00695 http://www.drugbank.ca/drugs/DB00695 DrugBank DB00709 http://www.drugbank.ca/drugs/DB00709 DrugBank DB00762 http://www.drugbank.ca/drugs/DB00762 DrugBank DB00773 http://www.drugbank.ca/drugs/DB00773 DrugBank DB00795 http://www.drugbank.ca/drugs/DB00795 DrugBank DB00876 http://www.drugbank.ca/drugs/DB00876 DrugBank DB00908 http://www.drugbank.ca/drugs/DB00908 DrugBank DB00957 http://www.drugbank.ca/drugs/DB00957 DrugBank DB00958 http://www.drugbank.ca/drugs/DB00958 DrugBank DB00966 http://www.drugbank.ca/drugs/DB00966 DrugBank DB00973 http://www.drugbank.ca/drugs/DB00973 DrugBank DB00977 http://www.drugbank.ca/drugs/DB00977 DrugBank DB00978 http://www.drugbank.ca/drugs/DB00978 DrugBank DB00997 http://www.drugbank.ca/drugs/DB00997 DrugBank DB01016 http://www.drugbank.ca/drugs/DB01016 DrugBank DB01032 http://www.drugbank.ca/drugs/DB01032 DrugBank DB01045 http://www.drugbank.ca/drugs/DB01045 DrugBank DB01076 http://www.drugbank.ca/drugs/DB01076 DrugBank DB01115 http://www.drugbank.ca/drugs/DB01115 DrugBank DB01138 http://www.drugbank.ca/drugs/DB01138 DrugBank DB01165 http://www.drugbank.ca/drugs/DB01165 DrugBank DB01169 http://www.drugbank.ca/drugs/DB01169 DrugBank DB01174 http://www.drugbank.ca/drugs/DB01174 DrugBank DB01202 http://www.drugbank.ca/drugs/DB01202 DrugBank DB01208 http://www.drugbank.ca/drugs/DB01208 DrugBank DB01229 http://www.drugbank.ca/drugs/DB01229 DrugBank DB01232 http://www.drugbank.ca/drugs/DB01232 DrugBank DB01234 http://www.drugbank.ca/drugs/DB01234 DrugBank DB01248 http://www.drugbank.ca/drugs/DB01248 DrugBank DB01268 http://www.drugbank.ca/drugs/DB01268 DrugBank DB01411 http://www.drugbank.ca/drugs/DB01411 DrugBank DB01586 http://www.drugbank.ca/drugs/DB01586 DrugBank DB02659 http://www.drugbank.ca/drugs/DB02659 DrugBank DB02703 http://www.drugbank.ca/drugs/DB02703 DrugBank DB08860 http://www.drugbank.ca/drugs/DB08860 DrugBank DB08884 http://www.drugbank.ca/drugs/DB08884 DrugBank DB08907 http://www.drugbank.ca/drugs/DB08907 DrugBank DB09060 http://www.drugbank.ca/drugs/DB09060 DrugBank DB09272 http://www.drugbank.ca/drugs/DB09272 EMBL AJ132244 http://www.ebi.ac.uk/ena/data/view/AJ132244 EMBL AJ132287 http://www.ebi.ac.uk/ena/data/view/AJ132287 EMBL AJ132288 http://www.ebi.ac.uk/ena/data/view/AJ132288 EMBL AJ132289 http://www.ebi.ac.uk/ena/data/view/AJ132289 EMBL AJ132290 http://www.ebi.ac.uk/ena/data/view/AJ132290 EMBL AJ132291 http://www.ebi.ac.uk/ena/data/view/AJ132291 EMBL AJ132292 http://www.ebi.ac.uk/ena/data/view/AJ132292 EMBL AJ132293 http://www.ebi.ac.uk/ena/data/view/AJ132293 EMBL AJ132294 http://www.ebi.ac.uk/ena/data/view/AJ132294 EMBL AJ132295 http://www.ebi.ac.uk/ena/data/view/AJ132295 EMBL AJ132296 http://www.ebi.ac.uk/ena/data/view/AJ132296 EMBL AJ132297 http://www.ebi.ac.uk/ena/data/view/AJ132297 EMBL AJ132298 http://www.ebi.ac.uk/ena/data/view/AJ132298 EMBL AJ132299 http://www.ebi.ac.uk/ena/data/view/AJ132299 EMBL AJ132300 http://www.ebi.ac.uk/ena/data/view/AJ132300 EMBL AJ132301 http://www.ebi.ac.uk/ena/data/view/AJ132301 EMBL AJ132302 http://www.ebi.ac.uk/ena/data/view/AJ132302 EMBL AJ132303 http://www.ebi.ac.uk/ena/data/view/AJ132303 EMBL AJ132304 http://www.ebi.ac.uk/ena/data/view/AJ132304 EMBL AJ132305 http://www.ebi.ac.uk/ena/data/view/AJ132305 EMBL AJ132306 http://www.ebi.ac.uk/ena/data/view/AJ132306 EMBL AJ132307 http://www.ebi.ac.uk/ena/data/view/AJ132307 EMBL AJ132308 http://www.ebi.ac.uk/ena/data/view/AJ132308 EMBL AJ132309 http://www.ebi.ac.uk/ena/data/view/AJ132309 EMBL AJ132310 http://www.ebi.ac.uk/ena/data/view/AJ132310 EMBL AJ132311 http://www.ebi.ac.uk/ena/data/view/AJ132311 EMBL AJ132312 http://www.ebi.ac.uk/ena/data/view/AJ132312 EMBL AJ132313 http://www.ebi.ac.uk/ena/data/view/AJ132313 EMBL AJ132314 http://www.ebi.ac.uk/ena/data/view/AJ132314 EMBL AJ245625 http://www.ebi.ac.uk/ena/data/view/AJ245625 EMBL AJ245626 http://www.ebi.ac.uk/ena/data/view/AJ245626 EMBL AJ245627 http://www.ebi.ac.uk/ena/data/view/AJ245627 EMBL AL133353 http://www.ebi.ac.uk/ena/data/view/AL133353 EMBL AL133353 http://www.ebi.ac.uk/ena/data/view/AL133353 EMBL AL392107 http://www.ebi.ac.uk/ena/data/view/AL392107 EMBL AL392107 http://www.ebi.ac.uk/ena/data/view/AL392107 EMBL BC136419 http://www.ebi.ac.uk/ena/data/view/BC136419 EMBL CH471066 http://www.ebi.ac.uk/ena/data/view/CH471066 EMBL U49248 http://www.ebi.ac.uk/ena/data/view/U49248 EMBL U63970 http://www.ebi.ac.uk/ena/data/view/U63970 EMBL X96395 http://www.ebi.ac.uk/ena/data/view/X96395 Ensembl ENST00000370449 http://www.ensembl.org/id/ENST00000370449 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0009986 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009986 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:0046581 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046581 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0008514 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008514 GO_function GO:0015127 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015127 GO_function GO:0042626 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042626 GO_function GO:0043225 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043225 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0006855 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006855 GO_process GO:0006979 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006979 GO_process GO:0009408 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009408 GO_process GO:0015732 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015732 GO_process GO:0030644 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030644 GO_process GO:0031427 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031427 GO_process GO:0043627 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043627 GO_process GO:0046685 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046685 GO_process GO:0048545 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048545 GO_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GO_process GO:0070327 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070327 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 3.40.50.300 http://www.cathdb.info/version/latest/superfamily/3.40.50.300 GeneCards ABCC2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ABCC2 GeneID 1244 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=1244 GeneTree ENSGT00860000133687 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00860000133687 HGNC HGNC:53 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:53 HOVERGEN HBG108314 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG108314&db=HOVERGEN HPA CAB037271 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB037271 HPA HPA004860 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA004860 InParanoid Q92887 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q92887 IntAct Q92887 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q92887* InterPro IPR003439 http://www.ebi.ac.uk/interpro/entry/IPR003439 InterPro IPR003593 http://www.ebi.ac.uk/interpro/entry/IPR003593 InterPro IPR005292 http://www.ebi.ac.uk/interpro/entry/IPR005292 InterPro IPR011527 http://www.ebi.ac.uk/interpro/entry/IPR011527 InterPro IPR017871 http://www.ebi.ac.uk/interpro/entry/IPR017871 InterPro IPR027417 http://www.ebi.ac.uk/interpro/entry/IPR027417 InterPro IPR030247 http://www.ebi.ac.uk/interpro/entry/IPR030247 Jabion 1244 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=1244 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Disease H00208 http://www.genome.jp/dbget-bin/www_bget?H00208 KEGG_Gene hsa:1244 http://www.genome.jp/dbget-bin/www_bget?hsa:1244 KEGG_Orthology KO:K05666 http://www.genome.jp/dbget-bin/www_bget?KO:K05666 KEGG_Pathway ko02010 http://www.genome.jp/kegg-bin/show_pathway?ko02010 KEGG_Pathway ko04976 http://www.genome.jp/kegg-bin/show_pathway?ko04976 MIM 237500 http://www.ncbi.nlm.nih.gov/omim/237500 MIM 601107 http://www.ncbi.nlm.nih.gov/omim/601107 MINT MINT-5004989 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-5004989 OMA QTPGPFY http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=QTPGPFY Orphanet 234 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=234 OrthoDB EOG091G00IN http://cegg.unige.ch/orthodb/results?searchtext=EOG091G00IN PANTHER PTHR24223:SF176 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24223:SF176 PROSITE PS00211 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00211 PROSITE PS50893 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50893 PROSITE PS50929 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50929 PSORT swissprot:MRP2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:MRP2_HUMAN PSORT-B swissprot:MRP2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:MRP2_HUMAN PSORT2 swissprot:MRP2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:MRP2_HUMAN Pfam PF00005 http://pfam.xfam.org/family/PF00005 Pfam PF00664 http://pfam.xfam.org/family/PF00664 PharmGKB PA116 http://www.pharmgkb.org/do/serve?objId=PA116&objCls=Gene Phobius swissprot:MRP2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:MRP2_HUMAN PhylomeDB Q92887 http://phylomedb.org/?seqid=Q92887 ProteinModelPortal Q92887 http://www.proteinmodelportal.org/query/uniprot/Q92887 PubMed 10053008 http://www.ncbi.nlm.nih.gov/pubmed/10053008 PubMed 10464142 http://www.ncbi.nlm.nih.gov/pubmed/10464142 PubMed 11076395 http://www.ncbi.nlm.nih.gov/pubmed/11076395 PubMed 11093739 http://www.ncbi.nlm.nih.gov/pubmed/11093739 PubMed 11266082 http://www.ncbi.nlm.nih.gov/pubmed/11266082 PubMed 11477083 http://www.ncbi.nlm.nih.gov/pubmed/11477083 PubMed 11500505 http://www.ncbi.nlm.nih.gov/pubmed/11500505 PubMed 15164054 http://www.ncbi.nlm.nih.gov/pubmed/15164054 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 18691976 http://www.ncbi.nlm.nih.gov/pubmed/18691976 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 22290738 http://www.ncbi.nlm.nih.gov/pubmed/22290738 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 25336012 http://www.ncbi.nlm.nih.gov/pubmed/25336012 PubMed 8662992 http://www.ncbi.nlm.nih.gov/pubmed/8662992 PubMed 8797578 http://www.ncbi.nlm.nih.gov/pubmed/8797578 PubMed 9425227 http://www.ncbi.nlm.nih.gov/pubmed/9425227 Reactome R-HSA-382556 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-382556 RefSeq NP_000383 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000383 SMART SM00382 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00382 SMR Q92887 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q92887 STRING 9606.ENSP00000359478 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000359478&targetmode=cogs SUPFAM SSF52540 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52540 SUPFAM SSF90123 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF90123 TCDB 3.A.1.208 http://www.tcdb.org/search/result.php?tc=3.A.1.208 TIGRFAMs TIGR00957 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00957 UCSC uc001kqf http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001kqf&org=rat UniGene Hs.368243 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.368243 UniProtKB MRP2_HUMAN http://www.uniprot.org/uniprot/MRP2_HUMAN UniProtKB-AC Q92887 http://www.uniprot.org/uniprot/Q92887 charge swissprot:MRP2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:MRP2_HUMAN eggNOG COG1132 http://eggnogapi.embl.de/nog_data/html/tree/COG1132 eggNOG KOG0054 http://eggnogapi.embl.de/nog_data/html/tree/KOG0054 epestfind swissprot:MRP2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:MRP2_HUMAN garnier swissprot:MRP2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:MRP2_HUMAN helixturnhelix swissprot:MRP2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:MRP2_HUMAN hmoment swissprot:MRP2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:MRP2_HUMAN iep swissprot:MRP2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:MRP2_HUMAN inforesidue swissprot:MRP2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:MRP2_HUMAN neXtProt NX_Q92887 http://www.nextprot.org/db/entry/NX_Q92887 octanol swissprot:MRP2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:MRP2_HUMAN pepcoil swissprot:MRP2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:MRP2_HUMAN pepdigest swissprot:MRP2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:MRP2_HUMAN pepinfo swissprot:MRP2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:MRP2_HUMAN pepnet swissprot:MRP2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:MRP2_HUMAN pepstats swissprot:MRP2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:MRP2_HUMAN pepwheel swissprot:MRP2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:MRP2_HUMAN pepwindow swissprot:MRP2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:MRP2_HUMAN sigcleave swissprot:MRP2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:MRP2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS MOT1_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P53985-1; Sequence=Displayed; Name=2; IsoId=P53985-2; Sequence=VSP_056191; Note=No experimental confirmation available.; # AltName MOT1_HUMAN Solute carrier family 16 member 1 # BioGrid 112454 24 # CCDS CCDS858 -. [P53985-1] # CDD cd06174 MFS # ChiTaRS SLC16A1 human # DISEASE MOT1_HUMAN Familial hyperinsulinemic hypoglycemia 7 (HHF7) [MIM 610021] Dominantly inherited hypoglycemic disorder characterized by inappropriate insulin secretion during anaerobic exercise or on pyruvate load. {ECO 0000269|PubMed 17701893}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE MOT1_HUMAN Monocarboxylate transporter 1 deficiency (MCT1D) [MIM 616095] A metabolic disorder characterized by recurrent ketoacidosis, a pathologic state due to ketone formation exceeding ketone utilization. The clinical consequences of ketoacidosis are vomiting, osmotic diuresis, dehydration, and Kussmaul breathing. The condition may progress to decreased consciousness and, ultimately, death. {ECO 0000269|PubMed 25390740}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE MOT1_HUMAN Symptomatic deficiency in lactate transport (SDLT) [MIM 245340] Deficiency of lactate transporter may result in an acidic intracellular environment created by muscle activity with consequent degeneration of muscle and release of myoglobin and creatine kinase. This defect might compromise extreme performance in otherwise healthy individuals. {ECO 0000269|PubMed 10590411}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DrugBank DB00119 Pyruvic acid # DrugBank DB00175 Pravastatin # DrugBank DB00313 Valproic Acid # DrugBank DB00345 Aminohippurate # DrugBank DB00415 Ampicillin # DrugBank DB00529 Foscarnet # DrugBank DB00563 Methotrexate # DrugBank DB00627 Niacin # DrugBank DB00731 Nateglinide # DrugBank DB00936 Salicylic acid # DrugBank DB01032 Probenecid # DrugBank DB01440 Gamma Hydroxybutyric Acid # DrugBank DB03166 Acetic acid # DrugBank DB03793 Benzoic Acid # DrugBank DB04398 Lactic Acid # DrugBank DB04552 Niflumic Acid # Ensembl ENST00000369626 ENSP00000358640; ENSG00000155380. [P53985-1] # Ensembl ENST00000538576 ENSP00000441065; ENSG00000155380. [P53985-1] # Ensembl ENST00000628110 ENSP00000485688; ENSG00000281917. [P53985-1] # Ensembl ENST00000630362 ENSP00000486000; ENSG00000281917. [P53985-1] # ExpressionAtlas P53985 baseline and differential # FUNCTION MOT1_HUMAN Proton-coupled monocarboxylate transporter. Catalyzes the rapid transport across the plasma membrane of many monocarboxylates such as lactate, pyruvate, branched-chain oxo acids derived from leucine, valine and isoleucine, and the ketone bodies acetoacetate, beta-hydroxybutyrate and acetate. Depending on the tissue and on cicumstances, mediates the import or export of lactic acid and ketone bodies. Required for normal nutrient assimilation, increase of white adipose tissue and body weight gain when on a high-fat diet. Plays a role in cellular responses to a high-fat diet by modulating the cellular levels of lactate and pyruvate, small molecules that contribute to the regulation of central metabolic pathways and insulin secretion, with concomitant effects on plasma insulin levels and blood glucose homeostasis. {ECO 0000269|PubMed 17701893}. # GO_component GO:0005739 mitochondrion; IEA:Ensembl. # GO_component GO:0005813 centrosome; IDA:UniProtKB. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0005887 integral component of plasma membrane; IDA:UniProtKB. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; TAS:ProtInc. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0008028 monocarboxylic acid transmembrane transporter activity; TAS:Reactome. # GO_function GO:0015129 lactate transmembrane transporter activity; EXP:Reactome. # GO_function GO:0015130 mevalonate transmembrane transporter activity; TAS:ProtInc. # GO_function GO:0015293 symporter activity; IEA:UniProtKB-KW. # GO_function GO:0097159 organic cyclic compound binding; IEA:Ensembl. # GO_process GO:0006090 pyruvate metabolic process; TAS:Reactome. # GO_process GO:0006629 lipid metabolic process; IEA:Ensembl. # GO_process GO:0015718 monocarboxylic acid transport; TAS:ProtInc. # GO_process GO:0015728 mevalonate transport; TAS:ProtInc. # GO_process GO:0032094 response to food; IEA:Ensembl. # GO_process GO:0035879 plasma membrane lactate transport; ISS:UniProtKB. # GO_process GO:0042593 glucose homeostasis; IEA:Ensembl. # GO_process GO:0050796 regulation of insulin secretion; IEA:Ensembl. # GO_process GO:0050900 leukocyte migration; TAS:Reactome. # GO_process GO:0051297 centrosome organization; IMP:UniProtKB. # GO_process GO:0051780 behavioral response to nutrient; IEA:Ensembl. # GO_process GO:0071407 cellular response to organic cyclic compound; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005739 mitochondrion # GOslim_component GO:0005815 microtubule organizing center # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0002376 immune system process # GOslim_process GO:0006629 lipid metabolic process # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0044281 small molecule metabolic process # GOslim_process GO:0048870 cell motility # GOslim_process GO:0055085 transmembrane transport # Genevisible P53985 HS # HGNC HGNC:10922 SLC16A1 # IntAct P53985 12 # InterPro IPR004743 MCT # InterPro IPR011701 MFS # InterPro IPR020846 MFS_dom # InterPro IPR030757 MCT1 # KEGG_Brite ko02000 Transporters # KEGG_Brite ko02001 Solute carrier family # KEGG_Disease H01248 [Musculoskeletal disease] Erythrocyte lactate transporter defect # KEGG_Disease H01267 [Inherited metabolic disease] Familial hyperinsulinemic hypoglycemia (HHF) # MIM 245340 phenotype # MIM 600682 gene # MIM 610021 phenotype # MIM 616095 phenotype # MISCELLANEOUS MOT1_HUMAN Overexpression in pancreatic beta-cells triggers insulin secretion in response to pyruvate, causing hyperinsulemia and hypoglycemia during strenuous exercise. # Organism MOT1_HUMAN Homo sapiens (Human) # Orphanet 165991 Exercise-induced hyperinsulinism # Orphanet 171690 Metabolic myopathy due to lactate transporter defect # PANTHER PTHR11360:SF24 PTHR11360:SF24 # PIR A55568 A55568 # PROSITE PS50850 MFS # Pfam PF07690 MFS_1 # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-210991 Basigin interactions # Reactome R-HSA-433692 Proton-coupled monocarboxylate transport # Reactome R-HSA-70268 Pyruvate metabolism # RecName MOT1_HUMAN Monocarboxylate transporter 1 # RefSeq NP_001159968 NM_001166496.1. [P53985-1] # RefSeq NP_003042 NM_003051.3. [P53985-1] # RefSeq XP_011540328 XM_011542026.2. [P53985-1] # RefSeq XP_011540329 XM_011542027.2. [P53985-1] # SIMILARITY Belongs to the major facilitator superfamily. Monocarboxylate porter (TC 2.A.1.13) family. {ECO 0000305}. # SUBCELLULAR LOCATION MOT1_HUMAN Cell membrane {ECO 0000269|PubMed 15505343, ECO 0000269|PubMed 17127621, ECO 0000269|PubMed 24390345}; Multi- pass membrane protein {ECO 0000269|PubMed 15505343, ECO 0000269|PubMed 17127621, ECO 0000269|PubMed 24390345}. # SUBUNIT Interacts with EMB. Interaction with either BSG or EMB is required for expression at the cell membrane (By similarity). Interacts with BSG; this is required for expression at the cell membrane. {ECO:0000250, ECO 0000269|PubMed:17127621}. # SUPFAM SSF103473 SSF103473; 2 # TCDB 2.A.1.13 the major facilitator superfamily (mfs) # TIGRFAMs TIGR00892 2A0113 # TISSUE SPECIFICITY Detected in heart and in blood lymphocytes and monocytes (at protein level). Widely expressed. {ECO:0000269|PubMed 15505343}. # UCSC uc001ecx human. [P53985-1] # WEB RESOURCE MOT1_HUMAN Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http //atlasgeneticsoncology.org/Genes/SLC16A1ID44046ch1p13.html"; # eggNOG COG0477 LUCA # eggNOG KOG2504 Eukaryota BLAST swissprot:MOT1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:MOT1_HUMAN BioCyc MetaCyc:ENSG00000155380-MONOMER http://biocyc.org/getid?id=MetaCyc:ENSG00000155380-MONOMER BioCyc ZFISH:ENSG00000155380-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000155380-MONOMER COXPRESdb 6566 http://coxpresdb.jp/data/gene/6566.shtml CleanEx HS_SLC16A1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC16A1 DOI 10.1002/(SICI)1097-4598(200001)23:1<90::AID-MUS12>3.0.CO http://dx.doi.org/10.1002/(SICI)1097-4598(200001)23:1<90::AID-MUS12>3.0.CO DOI 10.1002/iub.572 http://dx.doi.org/10.1002/iub.572 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1006/bbrc.2002.6763 http://dx.doi.org/10.1006/bbrc.2002.6763 DOI 10.1006/geno.1994.1532 http://dx.doi.org/10.1006/geno.1994.1532 DOI 10.1016/j.cell.2006.09.026 http://dx.doi.org/10.1016/j.cell.2006.09.026 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1016/j.molcel.2008.07.007 http://dx.doi.org/10.1016/j.molcel.2008.07.007 DOI 10.1021/ac9004309 http://dx.doi.org/10.1021/ac9004309 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1038/nature12828 http://dx.doi.org/10.1038/nature12828 DOI 10.1056/NEJMoa1407778 http://dx.doi.org/10.1056/NEJMoa1407778 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1074/mcp.M800588-MCP200 http://dx.doi.org/10.1074/mcp.M800588-MCP200 DOI 10.1080/09687860600841967 http://dx.doi.org/10.1080/09687860600841967 DOI 10.1086/520960 http://dx.doi.org/10.1086/520960 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 DOI 10.1126/scisignal.2001570 http://dx.doi.org/10.1126/scisignal.2001570 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DOI 10.1369/jhc.4A6306.2004 http://dx.doi.org/10.1369/jhc.4A6306.2004 DrugBank DB00119 http://www.drugbank.ca/drugs/DB00119 DrugBank DB00175 http://www.drugbank.ca/drugs/DB00175 DrugBank DB00313 http://www.drugbank.ca/drugs/DB00313 DrugBank DB00345 http://www.drugbank.ca/drugs/DB00345 DrugBank DB00415 http://www.drugbank.ca/drugs/DB00415 DrugBank DB00529 http://www.drugbank.ca/drugs/DB00529 DrugBank DB00563 http://www.drugbank.ca/drugs/DB00563 DrugBank DB00627 http://www.drugbank.ca/drugs/DB00627 DrugBank DB00731 http://www.drugbank.ca/drugs/DB00731 DrugBank DB00936 http://www.drugbank.ca/drugs/DB00936 DrugBank DB01032 http://www.drugbank.ca/drugs/DB01032 DrugBank DB01440 http://www.drugbank.ca/drugs/DB01440 DrugBank DB03166 http://www.drugbank.ca/drugs/DB03166 DrugBank DB03793 http://www.drugbank.ca/drugs/DB03793 DrugBank DB04398 http://www.drugbank.ca/drugs/DB04398 DrugBank DB04552 http://www.drugbank.ca/drugs/DB04552 EMBL AJ438945 http://www.ebi.ac.uk/ena/data/view/AJ438945 EMBL AL158844 http://www.ebi.ac.uk/ena/data/view/AL158844 EMBL AL162079 http://www.ebi.ac.uk/ena/data/view/AL162079 EMBL BC026317 http://www.ebi.ac.uk/ena/data/view/BC026317 EMBL BC045664 http://www.ebi.ac.uk/ena/data/view/BC045664 EMBL CH471122 http://www.ebi.ac.uk/ena/data/view/CH471122 EMBL L31801 http://www.ebi.ac.uk/ena/data/view/L31801 Ensembl ENST00000369626 http://www.ensembl.org/id/ENST00000369626 Ensembl ENST00000538576 http://www.ensembl.org/id/ENST00000538576 Ensembl ENST00000628110 http://www.ensembl.org/id/ENST00000628110 Ensembl ENST00000630362 http://www.ensembl.org/id/ENST00000630362 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005813 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0008028 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008028 GO_function GO:0015129 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015129 GO_function GO:0015130 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015130 GO_function GO:0015293 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015293 GO_function GO:0097159 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097159 GO_process GO:0006090 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006090 GO_process GO:0006629 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006629 GO_process GO:0015718 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015718 GO_process GO:0015728 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015728 GO_process GO:0032094 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032094 GO_process GO:0035879 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035879 GO_process GO:0042593 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042593 GO_process GO:0050796 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050796 GO_process GO:0050900 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050900 GO_process GO:0051297 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051297 GO_process GO:0051780 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051780 GO_process GO:0071407 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071407 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_component GO:0005815 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005815 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0002376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002376 GOslim_process GO:0006629 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006629 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GOslim_process GO:0048870 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048870 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC16A1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC16A1 GeneID 6566 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6566 GeneTree ENSGT00760000118926 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118926 H-InvDB HIX0000897 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0000897 HGNC HGNC:10922 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10922 HOGENOM HOG000280688 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000280688&db=HOGENOM6 HOVERGEN HBG006384 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG006384&db=HOVERGEN HPA CAB017489 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB017489 HPA HPA003324 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA003324 InParanoid P53985 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P53985 IntAct P53985 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P53985* InterPro IPR004743 http://www.ebi.ac.uk/interpro/entry/IPR004743 InterPro IPR011701 http://www.ebi.ac.uk/interpro/entry/IPR011701 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 InterPro IPR030757 http://www.ebi.ac.uk/interpro/entry/IPR030757 Jabion 6566 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6566 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Disease H01248 http://www.genome.jp/dbget-bin/www_bget?H01248 KEGG_Disease H01267 http://www.genome.jp/dbget-bin/www_bget?H01267 KEGG_Gene hsa:6566 http://www.genome.jp/dbget-bin/www_bget?hsa:6566 KEGG_Orthology KO:K08179 http://www.genome.jp/dbget-bin/www_bget?KO:K08179 MIM 245340 http://www.ncbi.nlm.nih.gov/omim/245340 MIM 600682 http://www.ncbi.nlm.nih.gov/omim/600682 MIM 610021 http://www.ncbi.nlm.nih.gov/omim/610021 MIM 616095 http://www.ncbi.nlm.nih.gov/omim/616095 MINT MINT-5004345 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-5004345 OMA HMLAPLS http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=HMLAPLS Orphanet 165991 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=165991 Orphanet 171690 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=171690 OrthoDB EOG091G05SW http://cegg.unige.ch/orthodb/results?searchtext=EOG091G05SW PANTHER PTHR11360:SF24 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11360:SF24 PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PSORT swissprot:MOT1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:MOT1_HUMAN PSORT-B swissprot:MOT1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:MOT1_HUMAN PSORT2 swissprot:MOT1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:MOT1_HUMAN Pfam PF07690 http://pfam.xfam.org/family/PF07690 PharmGKB PA35813 http://www.pharmgkb.org/do/serve?objId=PA35813&objCls=Gene Phobius swissprot:MOT1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:MOT1_HUMAN PhylomeDB P53985 http://phylomedb.org/?seqid=P53985 ProteinModelPortal P53985 http://www.proteinmodelportal.org/query/uniprot/P53985 PubMed 10590411 http://www.ncbi.nlm.nih.gov/pubmed/10590411 PubMed 11944921 http://www.ncbi.nlm.nih.gov/pubmed/11944921 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15505343 http://www.ncbi.nlm.nih.gov/pubmed/15505343 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 17081983 http://www.ncbi.nlm.nih.gov/pubmed/17081983 PubMed 17127621 http://www.ncbi.nlm.nih.gov/pubmed/17127621 PubMed 17701893 http://www.ncbi.nlm.nih.gov/pubmed/17701893 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 18691976 http://www.ncbi.nlm.nih.gov/pubmed/18691976 PubMed 19369195 http://www.ncbi.nlm.nih.gov/pubmed/19369195 PubMed 19413330 http://www.ncbi.nlm.nih.gov/pubmed/19413330 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 21406692 http://www.ncbi.nlm.nih.gov/pubmed/21406692 PubMed 22162139 http://www.ncbi.nlm.nih.gov/pubmed/22162139 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 24390345 http://www.ncbi.nlm.nih.gov/pubmed/24390345 PubMed 25390740 http://www.ncbi.nlm.nih.gov/pubmed/25390740 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 7835905 http://www.ncbi.nlm.nih.gov/pubmed/7835905 Reactome R-HSA-210991 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-210991 Reactome R-HSA-433692 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-433692 Reactome R-HSA-70268 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-70268 RefSeq NP_001159968 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001159968 RefSeq NP_003042 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_003042 RefSeq XP_011540328 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011540328 RefSeq XP_011540329 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011540329 STRING 9606.ENSP00000358640 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000358640&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.1.13 http://www.tcdb.org/search/result.php?tc=2.A.1.13 TIGRFAMs TIGR00892 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00892 UCSC uc001ecx http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001ecx&org=rat UniGene Hs.75231 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.75231 UniProtKB MOT1_HUMAN http://www.uniprot.org/uniprot/MOT1_HUMAN UniProtKB-AC P53985 http://www.uniprot.org/uniprot/P53985 charge swissprot:MOT1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:MOT1_HUMAN eggNOG COG0477 http://eggnogapi.embl.de/nog_data/html/tree/COG0477 eggNOG KOG2504 http://eggnogapi.embl.de/nog_data/html/tree/KOG2504 epestfind swissprot:MOT1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:MOT1_HUMAN garnier swissprot:MOT1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:MOT1_HUMAN helixturnhelix swissprot:MOT1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:MOT1_HUMAN hmoment swissprot:MOT1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:MOT1_HUMAN iep swissprot:MOT1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:MOT1_HUMAN inforesidue swissprot:MOT1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:MOT1_HUMAN neXtProt NX_P53985 http://www.nextprot.org/db/entry/NX_P53985 octanol swissprot:MOT1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:MOT1_HUMAN pepcoil swissprot:MOT1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:MOT1_HUMAN pepdigest swissprot:MOT1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:MOT1_HUMAN pepinfo swissprot:MOT1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:MOT1_HUMAN pepnet swissprot:MOT1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:MOT1_HUMAN pepstats swissprot:MOT1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:MOT1_HUMAN pepwheel swissprot:MOT1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:MOT1_HUMAN pepwindow swissprot:MOT1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:MOT1_HUMAN sigcleave swissprot:MOT1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:MOT1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS KCNKG_HUMAN Event=Alternative splicing; Named isoforms=4; Name=a; IsoId=Q96T55-1; Sequence=Displayed; Name=b; IsoId=Q96T55-3; Sequence=VSP_039865; Name=c; IsoId=Q96T55-4; Sequence=VSP_039863; Name=d; IsoId=Q96T55-5; Sequence=VSP_039864; # AltName KCNKG_HUMAN 2P domain potassium channel Talk-1 # AltName KCNKG_HUMAN TWIK-related alkaline pH-activated K(+) channel 1 # BioGrid 123763 24 # CCDS CCDS47420 -. [Q96T55-5] # CCDS CCDS47421 -. [Q96T55-4] # CCDS CCDS47422 -. [Q96T55-3] # CCDS CCDS4843 -. [Q96T55-1] # Ensembl ENST00000373227 ENSP00000362324; ENSG00000095981. [Q96T55-5] # Ensembl ENST00000373229 ENSP00000362326; ENSG00000095981. [Q96T55-1] # Ensembl ENST00000425054 ENSP00000391498; ENSG00000095981. [Q96T55-4] # Ensembl ENST00000437525 ENSP00000415375; ENSG00000095981. [Q96T55-3] # ExpressionAtlas Q96T55 baseline and differential # FUNCTION KCNKG_HUMAN Outward rectifying potassium channel. Produces rapidly activating and non-inactivating outward rectifier K(+) currents. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_function GO:0005244 voltage-gated ion channel activity; IEA:UniProtKB-KW. # GO_function GO:0005267 potassium channel activity; IDA:MGI. # GO_function GO:0022841 potassium ion leak channel activity; IBA:GO_Central. # GO_process GO:0006813 potassium ion transport; IDA:MGI. # GO_process GO:0030322 stabilization of membrane potential; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # Genevisible Q96T55 HS # HGNC HGNC:14464 KCNK16 # INTERACTION KCNKG_HUMAN P32242 OTX1; NbExp=3; IntAct=EBI-10294109, EBI-740446; # IntAct Q96T55 2 # InterPro IPR003092 2pore_dom_K_chnl_TASK # InterPro IPR003280 2pore_dom_K_chnl # InterPro IPR013099 K_chnl_dom # KEGG_Brite ko04040 Ion channels # MIM 607369 gene # MISCELLANEOUS KCNKG_HUMAN Inhibited by Ba(2+), quinine, quinidine, chloroform and halothane. Activated at alkaline pH. # Organism KCNKG_HUMAN Homo sapiens (Human) # PRINTS PR01095 TASKCHANNEL # PRINTS PR01333 2POREKCHANEL # Pfam PF07885 Ion_trans_2; 2 # Proteomes UP000005640 Chromosome 6 # Reactome R-HSA-1299361 TWIK-related alkaline pH activated K+ channel (TALK) # Reactome R-HSA-5576886 Phase 4 - resting membrane potential # RecName KCNKG_HUMAN Potassium channel subfamily K member 16 # RefSeq NP_001128577 NM_001135105.1. [Q96T55-4] # RefSeq NP_001128578 NM_001135106.1. [Q96T55-3] # RefSeq NP_001128579 NM_001135107.1. [Q96T55-5] # RefSeq NP_115491 NM_032115.3. [Q96T55-1] # RefSeq XP_016866835 XM_017011346.1. [Q96T55-5] # SIMILARITY Belongs to the two pore domain potassium channel (TC 1.A.1.8) family. {ECO 0000305}. # SUBCELLULAR LOCATION KCNKG_HUMAN Membrane; Multi-pass membrane protein. # SUBUNIT Homodimer. {ECO 0000305}. # TCDB 1.A.1.9.10 the voltage-gated ion channel (vic) superfamily # TISSUE SPECIFICITY Highly expressed in pancreas. Not detectable in the other tissues tested. {ECO:0000269|PubMed 12724142}. # UCSC uc003ooq human. [Q96T55-1] # eggNOG COG1226 LUCA # eggNOG KOG1418 Eukaryota BLAST swissprot:KCNKG_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCNKG_HUMAN BioCyc ZFISH:ENSG00000095981-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000095981-MONOMER COXPRESdb 83795 http://coxpresdb.jp/data/gene/83795.shtml CleanEx HS_KCNK16 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNK16 DOI 10.1006/bbrc.2001.4562 http://dx.doi.org/10.1006/bbrc.2001.4562 DOI 10.1038/bjp.2008.213 http://dx.doi.org/10.1038/bjp.2008.213 DOI 10.1038/nature02055 http://dx.doi.org/10.1038/nature02055 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1152/ajpcell.00601.2002 http://dx.doi.org/10.1152/ajpcell.00601.2002 EMBL AF358909 http://www.ebi.ac.uk/ena/data/view/AF358909 EMBL AL136087 http://www.ebi.ac.uk/ena/data/view/AL136087 EMBL AY253145 http://www.ebi.ac.uk/ena/data/view/AY253145 EMBL AY253146 http://www.ebi.ac.uk/ena/data/view/AY253146 EMBL AY253147 http://www.ebi.ac.uk/ena/data/view/AY253147 EMBL BC111860 http://www.ebi.ac.uk/ena/data/view/BC111860 EMBL CH471081 http://www.ebi.ac.uk/ena/data/view/CH471081 EMBL CH471081 http://www.ebi.ac.uk/ena/data/view/CH471081 EMBL CH471081 http://www.ebi.ac.uk/ena/data/view/CH471081 EMBL EU978943 http://www.ebi.ac.uk/ena/data/view/EU978943 Ensembl ENST00000373227 http://www.ensembl.org/id/ENST00000373227 Ensembl ENST00000373229 http://www.ensembl.org/id/ENST00000373229 Ensembl ENST00000425054 http://www.ensembl.org/id/ENST00000425054 Ensembl ENST00000437525 http://www.ensembl.org/id/ENST00000437525 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0005244 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005244 GO_function GO:0005267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005267 GO_function GO:0022841 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022841 GO_process GO:0006813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006813 GO_process GO:0030322 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030322 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GeneCards KCNK16 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNK16 GeneID 83795 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=83795 GeneTree ENSGT00760000118858 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118858 HGNC HGNC:14464 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:14464 HOVERGEN HBG104884 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG104884&db=HOVERGEN HPA HPA016567 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA016567 InParanoid Q96T55 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q96T55 IntAct Q96T55 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q96T55* InterPro IPR003092 http://www.ebi.ac.uk/interpro/entry/IPR003092 InterPro IPR003280 http://www.ebi.ac.uk/interpro/entry/IPR003280 InterPro IPR013099 http://www.ebi.ac.uk/interpro/entry/IPR013099 Jabion 83795 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=83795 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:83795 http://www.genome.jp/dbget-bin/www_bget?hsa:83795 KEGG_Orthology KO:K04924 http://www.genome.jp/dbget-bin/www_bget?KO:K04924 MIM 607369 http://www.ncbi.nlm.nih.gov/omim/607369 OMA LQNYTCL http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=LQNYTCL OrthoDB EOG091G0E3R http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0E3R PRINTS PR01095 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01095 PRINTS PR01333 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01333 PSORT swissprot:KCNKG_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCNKG_HUMAN PSORT-B swissprot:KCNKG_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCNKG_HUMAN PSORT2 swissprot:KCNKG_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCNKG_HUMAN Pfam PF07885 http://pfam.xfam.org/family/PF07885 PharmGKB PA30057 http://www.pharmgkb.org/do/serve?objId=PA30057&objCls=Gene Phobius swissprot:KCNKG_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCNKG_HUMAN PhylomeDB Q96T55 http://phylomedb.org/?seqid=Q96T55 ProteinModelPortal Q96T55 http://www.proteinmodelportal.org/query/uniprot/Q96T55 PubMed 11263999 http://www.ncbi.nlm.nih.gov/pubmed/11263999 PubMed 12724142 http://www.ncbi.nlm.nih.gov/pubmed/12724142 PubMed 14574404 http://www.ncbi.nlm.nih.gov/pubmed/14574404 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 18516069 http://www.ncbi.nlm.nih.gov/pubmed/18516069 Reactome R-HSA-1299361 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1299361 Reactome R-HSA-5576886 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576886 RefSeq NP_001128577 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001128577 RefSeq NP_001128578 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001128578 RefSeq NP_001128579 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001128579 RefSeq NP_115491 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_115491 RefSeq XP_016866835 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016866835 STRING 9606.ENSP00000391498 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000391498&targetmode=cogs TCDB 1.A.1.9.10 http://www.tcdb.org/search/result.php?tc=1.A.1.9.10 UCSC uc003ooq http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003ooq&org=rat UniGene Hs.287765 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.287765 UniProtKB KCNKG_HUMAN http://www.uniprot.org/uniprot/KCNKG_HUMAN UniProtKB-AC Q96T55 http://www.uniprot.org/uniprot/Q96T55 charge swissprot:KCNKG_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCNKG_HUMAN eggNOG COG1226 http://eggnogapi.embl.de/nog_data/html/tree/COG1226 eggNOG KOG1418 http://eggnogapi.embl.de/nog_data/html/tree/KOG1418 epestfind swissprot:KCNKG_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCNKG_HUMAN garnier swissprot:KCNKG_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCNKG_HUMAN helixturnhelix swissprot:KCNKG_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCNKG_HUMAN hmoment swissprot:KCNKG_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCNKG_HUMAN iep swissprot:KCNKG_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCNKG_HUMAN inforesidue swissprot:KCNKG_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCNKG_HUMAN neXtProt NX_Q96T55 http://www.nextprot.org/db/entry/NX_Q96T55 octanol swissprot:KCNKG_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCNKG_HUMAN pepcoil swissprot:KCNKG_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCNKG_HUMAN pepdigest swissprot:KCNKG_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCNKG_HUMAN pepinfo swissprot:KCNKG_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCNKG_HUMAN pepnet swissprot:KCNKG_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCNKG_HUMAN pepstats swissprot:KCNKG_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCNKG_HUMAN pepwheel swissprot:KCNKG_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCNKG_HUMAN pepwindow swissprot:KCNKG_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCNKG_HUMAN sigcleave swissprot:KCNKG_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCNKG_HUMAN ## Database ID URL or Descriptions # AltName SPN1_HUMAN RNA U transporter 1 # BioGrid 115384 30 # ChiTaRS SNUPN human # Ensembl ENST00000308588 ENSP00000309831; ENSG00000169371 # Ensembl ENST00000564644 ENSP00000454852; ENSG00000169371 # Ensembl ENST00000564675 ENSP00000458053; ENSG00000169371 # Ensembl ENST00000567134 ENSP00000456224; ENSG00000169371 # ExpressionAtlas O95149 baseline and differential # FUNCTION SPN1_HUMAN Functions as an U snRNP-specific nuclear import adapter. Involved in the trimethylguanosine (m3G)-cap-dependent nuclear import of U snRNPs. Binds specifically to the terminal m3G-cap U snRNAs. {ECO 0000269|PubMed 10209022, ECO 0000269|PubMed 15920472, ECO 0000269|PubMed 16030253, ECO 0000269|PubMed 9670026}. # GO_component GO:0005643 nuclear pore; TAS:ProtInc. # GO_component GO:0005829 cytosol; TAS:Reactome. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0000339 RNA cap binding; TAS:ProtInc. # GO_function GO:0008565 protein transporter activity; IEA:InterPro. # GO_process GO:0000387 spliceosomal snRNP assembly; TAS:Reactome. # GO_process GO:0006606 protein import into nucleus; IEA:InterPro. # GO_process GO:0051170 nuclear import; TAS:Reactome. # GO_process GO:0061015 snRNA import into nucleus; IEA:InterPro. # GOslim_component GO:0005829 cytosol # GOslim_component GO:0043226 organelle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003723 RNA binding # GOslim_function GO:0008565 protein transporter activity # GOslim_process GO:0006913 nucleocytoplasmic transport # GOslim_process GO:0022618 ribonucleoprotein complex assembly # Genevisible O95149 HS # HGNC HGNC:14245 SNUPN # IntAct O95149 17 # InterPro IPR002652 Importin-a_IBB # InterPro IPR017336 Snurportin-1 # InterPro IPR024721 Snurportin-1_N # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko03041 Spliceosome # KEGG_Pathway ko03013 RNA transport # MIM 607902 gene # Organism SPN1_HUMAN Homo sapiens (Human) # PDB 1XK5 X-ray; 2.40 A; A=97-300 # PDB 2P8Q X-ray; 2.35 A; B=25-64 # PDB 2Q5D X-ray; 3.20 A; C/D=25-64 # PDB 2QNA X-ray; 2.84 A; B=1-66 # PDB 3GB8 X-ray; 2.90 A; B=1-328 # PDB 3GJX X-ray; 2.50 A; B/E=1-360 # PDB 3LWW X-ray; 3.15 A; B/D=25-64 # PDB 3NBY X-ray; 3.42 A; B/E=15-360 # PDB 3NBZ X-ray; 2.80 A; B/E=15-360 # PDB 3NC0 X-ray; 2.90 A; B/E=15-360 # PDB 5DIS X-ray; 2.85 A; C=1-287 # PIRSF PIRSF037955 Snurportin-1 # PROSITE PS51214 IBB # Pfam PF11538 Snurportin1 # Proteomes UP000005640 Chromosome 15 # Reactome R-HSA-191859 snRNP Assembly # RecName SPN1_HUMAN Snurportin-1 # RefSeq NP_001036046 NM_001042581.1 # RefSeq NP_001036053 NM_001042588.1 # RefSeq NP_005692 NM_005701.3 # SIMILARITY Belongs to the snurportin family. {ECO 0000305}. # SIMILARITY Contains 1 IBB domain. {ECO:0000255|PROSITE- ProRule PRU00561}. # SUBCELLULAR LOCATION SPN1_HUMAN Nucleus {ECO 0000269|PubMed 10209022, ECO 0000269|PubMed 15920472}. Cytoplasm {ECO 0000269|PubMed 12095920, ECO 0000269|PubMed 9670026, ECO 0000305|PubMed 10209022}. Note=Nucleoplasmic shuttling protein. Its nuclear import involves the nucleocytoplasmic transport receptor importin beta (PubMed 10209022, PubMed 12095920). It is re-exported to the cytoplasm by the XPO1- dependent nuclear export receptor pathway (PubMed 10209022). {ECO 0000269|PubMed 10209022, ECO 0000269|PubMed 12095920}. # SUBUNIT SPN1_HUMAN Component of an import snRNP complex composed of KPNB1, SNUPN, SMN1 and ZNF259. Component of a nuclear export receptor complex composed of KPNB1, Ran, SNUPN and XPO1. Found in a trimeric export complex with SNUPN, Ran and XPO1. Interacts (via IBB domain) with KPNB1; the interaction is direct. Interacts with DDX20, IPO7, SMN1, SNRPB and XPO1. Interacts directly with XPO1. Its interaction with XPO1 and binding to m3G-cap U snRNPs appears to be mutually exclusive. {ECO 0000269|PubMed 10209022, ECO 0000269|PubMed 12095920, ECO 0000269|PubMed 15920472, ECO 0000269|PubMed 16030253, ECO 0000269|PubMed 18187419, ECO 0000269|PubMed 20476751, ECO 0000269|PubMed 9670026}. # UCSC uc002ban human # eggNOG ENOG410XQNJ LUCA # eggNOG KOG3132 Eukaryota BLAST swissprot:SPN1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SPN1_HUMAN BioCyc ZFISH:ENSG00000169371-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000169371-MONOMER COXPRESdb 10073 http://coxpresdb.jp/data/gene/10073.shtml CleanEx HS_SNUPN http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SNUPN DIP DIP-48513N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-48513N DOI 10.1021/bi100292y http://dx.doi.org/10.1021/bi100292y DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1038/sj.emboj.7600701 http://dx.doi.org/10.1038/sj.emboj.7600701 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1074/jbc.M709093200 http://dx.doi.org/10.1074/jbc.M709093200 DOI 10.1083/jcb.145.2.255 http://dx.doi.org/10.1083/jcb.145.2.255 DOI 10.1091/mbc.E05-04-0316 http://dx.doi.org/10.1091/mbc.E05-04-0316 DOI 10.1093/emboj/17.14.4114 http://dx.doi.org/10.1093/emboj/17.14.4114 DOI 10.1093/hmg/11.15.1785 http://dx.doi.org/10.1093/hmg/11.15.1785 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 DOI 10.1126/scisignal.2001570 http://dx.doi.org/10.1126/scisignal.2001570 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AF039029 http://www.ebi.ac.uk/ena/data/view/AF039029 EMBL AK289475 http://www.ebi.ac.uk/ena/data/view/AK289475 EMBL BC004203 http://www.ebi.ac.uk/ena/data/view/BC004203 EMBL CH471136 http://www.ebi.ac.uk/ena/data/view/CH471136 EMBL CH471136 http://www.ebi.ac.uk/ena/data/view/CH471136 EMBL CR456811 http://www.ebi.ac.uk/ena/data/view/CR456811 Ensembl ENST00000308588 http://www.ensembl.org/id/ENST00000308588 Ensembl ENST00000564644 http://www.ensembl.org/id/ENST00000564644 Ensembl ENST00000564675 http://www.ensembl.org/id/ENST00000564675 Ensembl ENST00000567134 http://www.ensembl.org/id/ENST00000567134 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005643 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005643 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0000339 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000339 GO_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GO_process GO:0000387 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000387 GO_process GO:0006606 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006606 GO_process GO:0051170 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051170 GO_process GO:0061015 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061015 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003723 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003723 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_process GO:0006913 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006913 GOslim_process GO:0022618 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022618 GeneCards SNUPN http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SNUPN GeneID 10073 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=10073 GeneTree ENSGT00510000047494 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00510000047494 HGNC HGNC:14245 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:14245 HOGENOM HOG000012990 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000012990&db=HOGENOM6 HOVERGEN HBG053257 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG053257&db=HOVERGEN HPA CAB005004 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB005004 InParanoid O95149 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O95149 IntAct O95149 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O95149* InterPro IPR002652 http://www.ebi.ac.uk/interpro/entry/IPR002652 InterPro IPR017336 http://www.ebi.ac.uk/interpro/entry/IPR017336 InterPro IPR024721 http://www.ebi.ac.uk/interpro/entry/IPR024721 Jabion 10073 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=10073 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko03041 http://www.genome.jp/dbget-bin/www_bget?ko03041 KEGG_Gene hsa:10073 http://www.genome.jp/dbget-bin/www_bget?hsa:10073 KEGG_Orthology KO:K13151 http://www.genome.jp/dbget-bin/www_bget?KO:K13151 KEGG_Pathway ko03013 http://www.genome.jp/kegg-bin/show_pathway?ko03013 MIM 607902 http://www.ncbi.nlm.nih.gov/omim/607902 MINT MINT-1378592 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1378592 OMA YHRQTHY http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=YHRQTHY OrthoDB EOG091G0PL0 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0PL0 PDB 1XK5 http://www.ebi.ac.uk/pdbe-srv/view/entry/1XK5 PDB 2P8Q http://www.ebi.ac.uk/pdbe-srv/view/entry/2P8Q PDB 2Q5D http://www.ebi.ac.uk/pdbe-srv/view/entry/2Q5D PDB 2QNA http://www.ebi.ac.uk/pdbe-srv/view/entry/2QNA PDB 3GB8 http://www.ebi.ac.uk/pdbe-srv/view/entry/3GB8 PDB 3GJX http://www.ebi.ac.uk/pdbe-srv/view/entry/3GJX PDB 3LWW http://www.ebi.ac.uk/pdbe-srv/view/entry/3LWW PDB 3NBY http://www.ebi.ac.uk/pdbe-srv/view/entry/3NBY PDB 3NBZ http://www.ebi.ac.uk/pdbe-srv/view/entry/3NBZ PDB 3NC0 http://www.ebi.ac.uk/pdbe-srv/view/entry/3NC0 PDB 5DIS http://www.ebi.ac.uk/pdbe-srv/view/entry/5DIS PDBsum 1XK5 http://www.ebi.ac.uk/pdbsum/1XK5 PDBsum 2P8Q http://www.ebi.ac.uk/pdbsum/2P8Q PDBsum 2Q5D http://www.ebi.ac.uk/pdbsum/2Q5D PDBsum 2QNA http://www.ebi.ac.uk/pdbsum/2QNA PDBsum 3GB8 http://www.ebi.ac.uk/pdbsum/3GB8 PDBsum 3GJX http://www.ebi.ac.uk/pdbsum/3GJX PDBsum 3LWW http://www.ebi.ac.uk/pdbsum/3LWW PDBsum 3NBY http://www.ebi.ac.uk/pdbsum/3NBY PDBsum 3NBZ http://www.ebi.ac.uk/pdbsum/3NBZ PDBsum 3NC0 http://www.ebi.ac.uk/pdbsum/3NC0 PDBsum 5DIS http://www.ebi.ac.uk/pdbsum/5DIS PROSITE PS51214 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51214 PSORT swissprot:SPN1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SPN1_HUMAN PSORT-B swissprot:SPN1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SPN1_HUMAN PSORT2 swissprot:SPN1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SPN1_HUMAN Pfam PF11538 http://pfam.xfam.org/family/PF11538 PharmGKB PA34611 http://www.pharmgkb.org/do/serve?objId=PA34611&objCls=Gene Phobius swissprot:SPN1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SPN1_HUMAN PhylomeDB O95149 http://phylomedb.org/?seqid=O95149 ProteinModelPortal O95149 http://www.proteinmodelportal.org/query/uniprot/O95149 PubMed 10209022 http://www.ncbi.nlm.nih.gov/pubmed/10209022 PubMed 12095920 http://www.ncbi.nlm.nih.gov/pubmed/12095920 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15920472 http://www.ncbi.nlm.nih.gov/pubmed/15920472 PubMed 16030253 http://www.ncbi.nlm.nih.gov/pubmed/16030253 PubMed 18187419 http://www.ncbi.nlm.nih.gov/pubmed/18187419 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 20476751 http://www.ncbi.nlm.nih.gov/pubmed/20476751 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 21406692 http://www.ncbi.nlm.nih.gov/pubmed/21406692 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 9670026 http://www.ncbi.nlm.nih.gov/pubmed/9670026 Reactome R-HSA-191859 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-191859 RefSeq NP_001036046 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001036046 RefSeq NP_001036053 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001036053 RefSeq NP_005692 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_005692 SMR O95149 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=O95149 STRING 9606.ENSP00000309831 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000309831&targetmode=cogs UCSC uc002ban http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002ban&org=rat UniGene Hs.21577 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.21577 UniProtKB SPN1_HUMAN http://www.uniprot.org/uniprot/SPN1_HUMAN UniProtKB-AC O95149 http://www.uniprot.org/uniprot/O95149 charge swissprot:SPN1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SPN1_HUMAN eggNOG ENOG410XQNJ http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XQNJ eggNOG KOG3132 http://eggnogapi.embl.de/nog_data/html/tree/KOG3132 epestfind swissprot:SPN1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SPN1_HUMAN garnier swissprot:SPN1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SPN1_HUMAN helixturnhelix swissprot:SPN1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SPN1_HUMAN hmoment swissprot:SPN1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SPN1_HUMAN iep swissprot:SPN1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SPN1_HUMAN inforesidue swissprot:SPN1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SPN1_HUMAN neXtProt NX_O95149 http://www.nextprot.org/db/entry/NX_O95149 octanol swissprot:SPN1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SPN1_HUMAN pepcoil swissprot:SPN1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SPN1_HUMAN pepdigest swissprot:SPN1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SPN1_HUMAN pepinfo swissprot:SPN1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SPN1_HUMAN pepnet swissprot:SPN1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SPN1_HUMAN pepstats swissprot:SPN1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SPN1_HUMAN pepwheel swissprot:SPN1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SPN1_HUMAN pepwindow swissprot:SPN1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SPN1_HUMAN sigcleave swissprot:SPN1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SPN1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS ARFG3_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NP61-1; Sequence=Displayed; Name=2; IsoId=Q9NP61-2; Sequence=VSP_046888; Note=Gene prediction based on EST data.; # BioGrid 117668 19 # CAUTION Was originally termed ARFGAP1. {ECO:0000305|PubMed 10704287}. # CCDS CCDS14042 -. [Q9NP61-1] # CCDS CCDS46722 -. [Q9NP61-2] # ChiTaRS ARFGAP3 human # DEVELOPMENTAL STAGE ARFG3_HUMAN Expressed at higher level in adult thymus, brain and lung, than in corresponding fetal tissues. Expressed at lower level in spleen, heart, kidney and liver during development. # ENZYME REGULATION GAP activity stimulated by phosphatidylinositol 4,5-bisphosphate (PIP2). {ECO:0000269|PubMed 11172815}. # Ensembl ENST00000263245 ENSP00000263245; ENSG00000242247. [Q9NP61-1] # Ensembl ENST00000437119 ENSP00000388791; ENSG00000242247. [Q9NP61-2] # ExpressionAtlas Q9NP61 baseline and differential # FUNCTION ARFG3_HUMAN GTPase-activating protein (GAP) for ADP ribosylation factor 1 (ARF1). Hydrolysis of ARF1-bound GTP may lead to dissociation of coatomer from Golgi-derived membranes to allow fusion with target membranes. {ECO 0000269|PubMed 11172815}. # GO_component GO:0000139 Golgi membrane; IEA:UniProtKB-SubCell. # GO_component GO:0005737 cytoplasm; IDA:HPA. # GO_component GO:0005794 Golgi apparatus; IDA:HPA. # GO_component GO:0005829 cytosol; IDA:UniProtKB. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_function GO:0005096 GTPase activator activity; IDA:UniProtKB. # GO_function GO:0008565 protein transporter activity; NAS:UniProtKB. # GO_function GO:0046872 metal ion binding; IEA:UniProtKB-KW. # GO_process GO:0006886 intracellular protein transport; NAS:UniProtKB. # GO_process GO:0006888 ER to Golgi vesicle-mediated transport; TAS:Reactome. # GO_process GO:0006890 retrograde vesicle-mediated transport, Golgi to ER; TAS:Reactome. # GO_process GO:0009306 protein secretion; IEP:UniProtKB. # GO_process GO:0016192 vesicle-mediated transport; NAS:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005794 Golgi apparatus # GOslim_component GO:0005829 cytosol # GOslim_function GO:0008565 protein transporter activity # GOslim_function GO:0030234 enzyme regulator activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0016192 vesicle-mediated transport # Genevisible Q9NP61 HS # HGNC HGNC:661 ARFGAP3 # INTERACTION ARFG3_HUMAN Q8IUH5 ZDHHC17; NbExp=2; IntAct=EBI-2875816, EBI-524753; # IntAct Q9NP61 14 # InterPro IPR001164 ArfGAP # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Pathway ko04144 Endocytosis # MIM 612439 gene # Organism ARFG3_HUMAN Homo sapiens (Human) # PDB 2CRW NMR; -; A=1-136 # PIR T46305 T46305 # PRINTS PR00405 REVINTRACTNG # PROSITE PS50115 ARFGAP # Pfam PF01412 ArfGap # Proteomes UP000005640 Chromosome 22 # Reactome R-HSA-6807878 COPI-mediated anterograde transport # Reactome R-HSA-6811434 COPI-dependent Golgi-to-ER retrograde traffic # RecName ARFG3_HUMAN ADP-ribosylation factor GTPase-activating protein 3 # RefSeq NP_001135765 NM_001142293.1. [Q9NP61-2] # RefSeq NP_055385 NM_014570.4. [Q9NP61-1] # SEQUENCE CAUTION Sequence=BAA92076.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB14236.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; # SIMILARITY Contains 1 Arf-GAP domain. {ECO:0000255|PROSITE- ProRule PRU00288}. # SMART SM00105 ArfGap # SUBCELLULAR LOCATION ARFG3_HUMAN Cytoplasm {ECO 0000269|PubMed 17760859}. Golgi apparatus membrane {ECO 0000269|PubMed 17760859}; Peripheral membrane protein {ECO 0000269|PubMed 17760859}; Cytoplasmic side {ECO 0000269|PubMed 17760859}. Note=Also found on peripheral punctate structures likely to be endoplasmic reticulum-Golgi intermediate compartment. # TISSUE SPECIFICITY Widely expressed. Highest expression in endocrine glands (pancreas, pituitary gland, salivary gland, and prostate) and testis with a much higher expression in the testis than in the ovary. {ECO:0000269|PubMed 10704287}. # TopDownProteomics Q9NP61-1 -. [Q9NP61-1] # UCSC uc003bdd human. [Q9NP61-1] # eggNOG COG5347 LUCA # eggNOG KOG0706 Eukaryota BLAST swissprot:ARFG3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ARFG3_HUMAN COXPRESdb 26286 http://coxpresdb.jp/data/gene/26286.shtml CleanEx HS_ARFGAP1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ARFGAP1 CleanEx HS_ARFGAP3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ARFGAP3 DOI 10.1006/geno.1999.6095 http://dx.doi.org/10.1006/geno.1999.6095 DOI 10.1016/S0014-5793(01)02134-2 http://dx.doi.org/10.1016/S0014-5793(01)02134-2 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/990031 http://dx.doi.org/10.1038/990031 DOI 10.1038/nbt1046 http://dx.doi.org/10.1038/nbt1046 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1101/gr.695703 http://dx.doi.org/10.1101/gr.695703 DOI 10.1111/j.1600-0854.2007.00631.x http://dx.doi.org/10.1111/j.1600-0854.2007.00631.x DOI 10.1126/science.1133427 http://dx.doi.org/10.1126/science.1133427 DOI 10.1126/scisignal.2000007 http://dx.doi.org/10.1126/scisignal.2000007 DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DOI 10.1186/gb-2004-5-10-r84 http://dx.doi.org/10.1186/gb-2004-5-10-r84 EMBL AF111847 http://www.ebi.ac.uk/ena/data/view/AF111847 EMBL AK002083 http://www.ebi.ac.uk/ena/data/view/AK002083 EMBL AK022768 http://www.ebi.ac.uk/ena/data/view/AK022768 EMBL AL049757 http://www.ebi.ac.uk/ena/data/view/AL049757 EMBL AL049757 http://www.ebi.ac.uk/ena/data/view/AL049757 EMBL AL049758 http://www.ebi.ac.uk/ena/data/view/AL049758 EMBL AL049758 http://www.ebi.ac.uk/ena/data/view/AL049758 EMBL AL137598 http://www.ebi.ac.uk/ena/data/view/AL137598 EMBL AL159143 http://www.ebi.ac.uk/ena/data/view/AL159143 EMBL BC005122 http://www.ebi.ac.uk/ena/data/view/BC005122 EMBL CR456382 http://www.ebi.ac.uk/ena/data/view/CR456382 Ensembl ENST00000263245 http://www.ensembl.org/id/ENST00000263245 Ensembl ENST00000437119 http://www.ensembl.org/id/ENST00000437119 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000139 GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_function GO:0005096 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005096 GO_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GO_function GO:0046872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046872 GO_process GO:0006886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006886 GO_process GO:0006888 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006888 GO_process GO:0006890 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006890 GO_process GO:0009306 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009306 GO_process GO:0016192 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016192 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_function GO:0030234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030234 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0016192 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016192 GeneCards ARFGAP3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ARFGAP3 GeneID 26286 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=26286 GeneTree ENSGT00390000005436 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000005436 HGNC HGNC:661 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:661 HOVERGEN HBG050563 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050563&db=HOVERGEN HPA HPA000638 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA000638 InParanoid Q9NP61 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9NP61 IntAct Q9NP61 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9NP61* InterPro IPR001164 http://www.ebi.ac.uk/interpro/entry/IPR001164 Jabion 26286 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=26286 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Gene hsa:26286 http://www.genome.jp/dbget-bin/www_bget?hsa:26286 KEGG_Orthology KO:K12493 http://www.genome.jp/dbget-bin/www_bget?KO:K12493 KEGG_Pathway ko04144 http://www.genome.jp/kegg-bin/show_pathway?ko04144 MIM 612439 http://www.ncbi.nlm.nih.gov/omim/612439 OMA WDDSADS http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=WDDSADS OrthoDB EOG091G0AS9 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0AS9 PDB 2CRW http://www.ebi.ac.uk/pdbe-srv/view/entry/2CRW PDBsum 2CRW http://www.ebi.ac.uk/pdbsum/2CRW PRINTS PR00405 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00405 PROSITE PS50115 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50115 PSORT swissprot:ARFG3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ARFG3_HUMAN PSORT-B swissprot:ARFG3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ARFG3_HUMAN PSORT2 swissprot:ARFG3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ARFG3_HUMAN Pfam PF01412 http://pfam.xfam.org/family/PF01412 PharmGKB PA35024 http://www.pharmgkb.org/do/serve?objId=PA35024&objCls=Gene Phobius swissprot:ARFG3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ARFG3_HUMAN PhylomeDB Q9NP61 http://phylomedb.org/?seqid=Q9NP61 ProteinModelPortal Q9NP61 http://www.proteinmodelportal.org/query/uniprot/Q9NP61 PubMed 10591208 http://www.ncbi.nlm.nih.gov/pubmed/10591208 PubMed 10704287 http://www.ncbi.nlm.nih.gov/pubmed/10704287 PubMed 11172815 http://www.ncbi.nlm.nih.gov/pubmed/11172815 PubMed 12529303 http://www.ncbi.nlm.nih.gov/pubmed/12529303 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15461802 http://www.ncbi.nlm.nih.gov/pubmed/15461802 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15592455 http://www.ncbi.nlm.nih.gov/pubmed/15592455 PubMed 16959974 http://www.ncbi.nlm.nih.gov/pubmed/16959974 PubMed 17760859 http://www.ncbi.nlm.nih.gov/pubmed/17760859 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 19690332 http://www.ncbi.nlm.nih.gov/pubmed/19690332 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 Reactome R-HSA-6807878 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6807878 Reactome R-HSA-6811434 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6811434 RefSeq NP_001135765 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001135765 RefSeq NP_055385 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_055385 SMART SM00105 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00105 SMR Q9NP61 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9NP61 STRING 9606.ENSP00000263245 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000263245&targetmode=cogs UCSC uc003bdd http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003bdd&org=rat UniGene Hs.685225 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.685225 UniProtKB ARFG3_HUMAN http://www.uniprot.org/uniprot/ARFG3_HUMAN UniProtKB-AC Q9NP61 http://www.uniprot.org/uniprot/Q9NP61 charge swissprot:ARFG3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ARFG3_HUMAN eggNOG COG5347 http://eggnogapi.embl.de/nog_data/html/tree/COG5347 eggNOG KOG0706 http://eggnogapi.embl.de/nog_data/html/tree/KOG0706 epestfind swissprot:ARFG3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ARFG3_HUMAN garnier swissprot:ARFG3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ARFG3_HUMAN helixturnhelix swissprot:ARFG3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ARFG3_HUMAN hmoment swissprot:ARFG3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ARFG3_HUMAN iep swissprot:ARFG3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ARFG3_HUMAN inforesidue swissprot:ARFG3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ARFG3_HUMAN neXtProt NX_Q9NP61 http://www.nextprot.org/db/entry/NX_Q9NP61 octanol swissprot:ARFG3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ARFG3_HUMAN pepcoil swissprot:ARFG3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ARFG3_HUMAN pepdigest swissprot:ARFG3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ARFG3_HUMAN pepinfo swissprot:ARFG3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ARFG3_HUMAN pepnet swissprot:ARFG3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ARFG3_HUMAN pepstats swissprot:ARFG3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ARFG3_HUMAN pepwheel swissprot:ARFG3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ARFG3_HUMAN pepwindow swissprot:ARFG3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ARFG3_HUMAN sigcleave swissprot:ARFG3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ARFG3_HUMAN ## Database ID URL or Descriptions # BioGrid 107560 6 # DrugBank DB00184 Nicotine # DrugBank DB00674 Galantamine # DrugBank DB00898 Ethanol # Ensembl ENST00000299565 ENSP00000299565; ENSG00000169684 # ExpressionAtlas P30532 baseline and differential # FUNCTION ACHA5_HUMAN After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005892 acetylcholine-gated channel complex; IC:UniProtKB. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0045211 postsynaptic membrane; IEA:UniProtKB-SubCell. # GO_function GO:0004889 acetylcholine-activated cation-selective channel activity; NAS:UniProtKB. # GO_function GO:0015276 ligand-gated ion channel activity; TAS:DFLAT. # GO_function GO:0015464 acetylcholine receptor activity; IDA:UniProtKB. # GO_process GO:0006810 transport; NAS:ProtInc. # GO_process GO:0007165 signal transduction; NAS:UniProtKB. # GO_process GO:0007268 chemical synaptic transmission; TAS:UniProtKB. # GO_process GO:0007271 synaptic transmission, cholinergic; IBA:GO_Central. # GO_process GO:0007274 neuromuscular synaptic transmission; IBA:GO_Central. # GO_process GO:0035095 behavioral response to nicotine; IMP:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # Gene3D 1.20.120.370 -; 2. # Gene3D 2.70.170.10 -; 1. # Genevisible P30532 HS # HGNC HGNC:1959 CHRNA5 # INTERACTION ACHA5_HUMAN P17787 CHRNB2; NbExp=3; IntAct=EBI-6657490, EBI-9008612; # IntAct P30532 3 # InterPro IPR002394 Nicotinic_acetylcholine_rcpt # InterPro IPR006029 Neurotrans-gated_channel_TM # InterPro IPR006201 Neur_channel # InterPro IPR006202 Neur_chan_lig-bd # InterPro IPR018000 Neurotransmitter_ion_chnl_CS # InterPro IPR027361 Acetylcholine_rcpt_TM # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04080 Neuroactive ligand-receptor interaction # MIM 118505 gene # MIM 612052 phenotype # Organism ACHA5_HUMAN Homo sapiens (Human) # PANTHER PTHR18945 PTHR18945 # PIR A38223 A38223 # POLYMORPHISM Genetic variations in CHRNA5 have been associated with susceptibility to smoking-related behavioral traits and lung cancer, contributing to the smoking quantitative trait locus 3 (SQTL3) [MIM 612052]. # PRINTS PR00252 NRIONCHANNEL # PRINTS PR00254 NICOTINICR # PROSITE PS00236 NEUROTR_ION_CHANNEL # Pfam PF02931 Neur_chan_LBD # Pfam PF02932 Neur_chan_memb; 2 # Proteomes UP000005640 Chromosome 15 # Reactome R-HSA-629594 Highly calcium permeable postsynaptic nicotinic acetylcholine receptors # Reactome R-HSA-629597 Highly calcium permeable nicotinic acetylcholine receptors # RecName ACHA5_HUMAN Neuronal acetylcholine receptor subunit alpha-5 # RefSeq NP_000736 NM_000745.3 # SIMILARITY Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Alpha- 5/CHRNA5 sub-subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION ACHA5_HUMAN Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. # SUBUNIT Neuronal AChR seems to be composed of two different type of subunits alpha and non-alpha (beta). # SUPFAM SSF63712 SSF63712 # SUPFAM SSF90112 SSF90112 # TIGRFAMs TIGR00860 LIC # UCSC uc002bdy human # eggNOG ENOG410XQGR LUCA # eggNOG KOG3645 Eukaryota BLAST swissprot:ACHA5_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ACHA5_HUMAN BioCyc ZFISH:ENSG00000169684-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000169684-MONOMER COXPRESdb 1138 http://coxpresdb.jp/data/gene/1138.shtml CleanEx HS_CHRNA5 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CHRNA5 DOI 10.1007/BF02736842 http://dx.doi.org/10.1007/BF02736842 DOI 10.1016/S0014-5793(96)01383-X http://dx.doi.org/10.1016/S0014-5793(96)01383-X DOI 10.1038/452537a http://dx.doi.org/10.1038/452537a DOI 10.1038/nature06885 http://dx.doi.org/10.1038/nature06885 DOI 10.1038/ng.109 http://dx.doi.org/10.1038/ng.109 DOI 10.1073/pnas.89.5.1572 http://dx.doi.org/10.1073/pnas.89.5.1572 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DrugBank DB00184 http://www.drugbank.ca/drugs/DB00184 DrugBank DB00674 http://www.drugbank.ca/drugs/DB00674 DrugBank DB00898 http://www.drugbank.ca/drugs/DB00898 EMBL AJ306481 http://www.ebi.ac.uk/ena/data/view/AJ306481 EMBL AJ306482 http://www.ebi.ac.uk/ena/data/view/AJ306482 EMBL AJ306483 http://www.ebi.ac.uk/ena/data/view/AJ306483 EMBL AJ306484 http://www.ebi.ac.uk/ena/data/view/AJ306484 EMBL AJ306485 http://www.ebi.ac.uk/ena/data/view/AJ306485 EMBL AJ306486 http://www.ebi.ac.uk/ena/data/view/AJ306486 EMBL BC033639 http://www.ebi.ac.uk/ena/data/view/BC033639 EMBL M83712 http://www.ebi.ac.uk/ena/data/view/M83712 EMBL U62434 http://www.ebi.ac.uk/ena/data/view/U62434 EMBL Y08419 http://www.ebi.ac.uk/ena/data/view/Y08419 Ensembl ENST00000299565 http://www.ensembl.org/id/ENST00000299565 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005892 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005892 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0045211 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045211 GO_function GO:0004889 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004889 GO_function GO:0015276 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015276 GO_function GO:0015464 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015464 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GO_process GO:0007268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007268 GO_process GO:0007271 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007271 GO_process GO:0007274 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007274 GO_process GO:0035095 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035095 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 Gene3D 1.20.120.370 http://www.cathdb.info/version/latest/superfamily/1.20.120.370 Gene3D 2.70.170.10 http://www.cathdb.info/version/latest/superfamily/2.70.170.10 GeneCards CHRNA5 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CHRNA5 GeneID 1138 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=1138 GeneTree ENSGT00760000118930 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118930 HGNC HGNC:1959 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:1959 HOGENOM HOG000006756 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000006756&db=HOGENOM6 HOVERGEN HBG003756 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG003756&db=HOVERGEN HPA HPA054381 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA054381 InParanoid P30532 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P30532 IntAct P30532 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P30532* InterPro IPR002394 http://www.ebi.ac.uk/interpro/entry/IPR002394 InterPro IPR006029 http://www.ebi.ac.uk/interpro/entry/IPR006029 InterPro IPR006201 http://www.ebi.ac.uk/interpro/entry/IPR006201 InterPro IPR006202 http://www.ebi.ac.uk/interpro/entry/IPR006202 InterPro IPR018000 http://www.ebi.ac.uk/interpro/entry/IPR018000 InterPro IPR027361 http://www.ebi.ac.uk/interpro/entry/IPR027361 Jabion 1138 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=1138 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:1138 http://www.genome.jp/dbget-bin/www_bget?hsa:1138 KEGG_Orthology KO:K04807 http://www.genome.jp/dbget-bin/www_bget?KO:K04807 KEGG_Pathway ko04080 http://www.genome.jp/kegg-bin/show_pathway?ko04080 MIM 118505 http://www.ncbi.nlm.nih.gov/omim/118505 MIM 612052 http://www.ncbi.nlm.nih.gov/omim/612052 OMA SIAKHED http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=SIAKHED OrthoDB EOG091G0R20 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0R20 PANTHER PTHR18945 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR18945 PRINTS PR00252 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00252 PRINTS PR00254 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00254 PROSITE PS00236 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00236 PSORT swissprot:ACHA5_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ACHA5_HUMAN PSORT-B swissprot:ACHA5_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ACHA5_HUMAN PSORT2 swissprot:ACHA5_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ACHA5_HUMAN Pfam PF02931 http://pfam.xfam.org/family/PF02931 Pfam PF02932 http://pfam.xfam.org/family/PF02932 PharmGKB PA26491 http://www.pharmgkb.org/do/serve?objId=PA26491&objCls=Gene Phobius swissprot:ACHA5_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ACHA5_HUMAN PhylomeDB P30532 http://phylomedb.org/?seqid=P30532 ProteinModelPortal P30532 http://www.proteinmodelportal.org/query/uniprot/P30532 PubMed 1542648 http://www.ncbi.nlm.nih.gov/pubmed/1542648 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 18385676 http://www.ncbi.nlm.nih.gov/pubmed/18385676 PubMed 18385720 http://www.ncbi.nlm.nih.gov/pubmed/18385720 PubMed 18385738 http://www.ncbi.nlm.nih.gov/pubmed/18385738 PubMed 8906617 http://www.ncbi.nlm.nih.gov/pubmed/8906617 PubMed 9009220 http://www.ncbi.nlm.nih.gov/pubmed/9009220 Reactome R-HSA-629594 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-629594 Reactome R-HSA-629597 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-629597 RefSeq NP_000736 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000736 SMR P30532 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P30532 STRING 9606.ENSP00000299565 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000299565&targetmode=cogs SUPFAM SSF63712 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF63712 SUPFAM SSF90112 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF90112 TIGRFAMs TIGR00860 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00860 UCSC uc002bdy http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002bdy&org=rat UniGene Hs.1614 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.1614 UniGene Hs.719767 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.719767 UniProtKB ACHA5_HUMAN http://www.uniprot.org/uniprot/ACHA5_HUMAN UniProtKB-AC P30532 http://www.uniprot.org/uniprot/P30532 charge swissprot:ACHA5_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ACHA5_HUMAN eggNOG ENOG410XQGR http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XQGR eggNOG KOG3645 http://eggnogapi.embl.de/nog_data/html/tree/KOG3645 epestfind swissprot:ACHA5_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ACHA5_HUMAN garnier swissprot:ACHA5_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ACHA5_HUMAN helixturnhelix swissprot:ACHA5_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ACHA5_HUMAN hmoment swissprot:ACHA5_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ACHA5_HUMAN iep swissprot:ACHA5_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ACHA5_HUMAN inforesidue swissprot:ACHA5_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ACHA5_HUMAN neXtProt NX_P30532 http://www.nextprot.org/db/entry/NX_P30532 octanol swissprot:ACHA5_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ACHA5_HUMAN pepcoil swissprot:ACHA5_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ACHA5_HUMAN pepdigest swissprot:ACHA5_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ACHA5_HUMAN pepinfo swissprot:ACHA5_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ACHA5_HUMAN pepnet swissprot:ACHA5_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ACHA5_HUMAN pepstats swissprot:ACHA5_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ACHA5_HUMAN pepwheel swissprot:ACHA5_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ACHA5_HUMAN pepwindow swissprot:ACHA5_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ACHA5_HUMAN sigcleave swissprot:ACHA5_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ACHA5_HUMAN ## Database ID URL or Descriptions # AltName COX7B_HUMAN Cytochrome c oxidase polypeptide VIIb # CDD cd01403 Cyt_c_Oxidase_VIIb # ChiTaRS COX7B human # DISEASE COX7B_HUMAN Linear skin defects with multiple congenital anomalies 2 (LSDMCA2) [MIM 300887] A distinct form of aplasia cutis congenita presenting as multiple linear skin defects on the face and neck associated with poor growth, microcephaly, and facial dysmorphism. Additional features include intellectual disability, nail dystrophy, short stature and cardiac abnormalities. {ECO 0000269|PubMed 23122588}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DrugBank DB02659 Cholic Acid # Ensembl ENST00000481445 ENSP00000417656; ENSG00000131174 # FUNCTION COX7B_HUMAN This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport. Plays a role in proper central nervous system (CNS) development in vertebrates. {ECO 0000269|PubMed 23122588}. # GO_component GO:0005739 mitochondrion; IBA:GO_Central. # GO_component GO:0005743 mitochondrial inner membrane; TAS:Reactome. # GO_component GO:0005746 mitochondrial respiratory chain; IEA:InterPro. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0045277 respiratory chain complex IV; IBA:GO_Central. # GO_function GO:0004129 cytochrome-c oxidase activity; TAS:ProtInc. # GO_process GO:0006123 mitochondrial electron transport, cytochrome c to oxygen; TAS:Reactome. # GO_process GO:0007417 central nervous system development; IMP:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005739 mitochondrion # GOslim_component GO:0043234 protein complex # GOslim_function GO:0016491 oxidoreductase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006091 generation of precursor metabolites and energy # GOslim_process GO:0048856 anatomical structure development # Gene3D 4.10.51.10 -; 1. # Genevisible P24311 HS # HGNC HGNC:2291 COX7B # IntAct P24311 2 # InterPro IPR008433 Cyt_c_oxidase_suVIIB # InterPro IPR023272 Cyt_c_oxidase_suVIIB_dom # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Pathway ko00190 Oxidative phosphorylation # KEGG_Pathway ko04260 Cardiac muscle contraction # KEGG_Pathway ko05010 Alzheimer's disease # KEGG_Pathway ko05012 Parkinson's disease # KEGG_Pathway ko05016 Huntington's disease # MIM 300885 gene # MIM 300887 phenotype # Organism COX7B_HUMAN Homo sapiens (Human) # Orphanet 2556 Microphthalmia with linear skin defects syndrome # PANTHER PTHR16716 PTHR16716 # PIR S29856 OSHU7B # Pfam PF05392 COX7B # Proteomes UP000005640 Chromosome X # Reactome R-HSA-5628897 TP53 Regulates Metabolic Genes # Reactome R-HSA-611105 Respiratory electron transport # RecName COX7B_HUMAN Cytochrome c oxidase subunit 7B, mitochondrial # RefSeq NP_001857 NM_001866.2 # SIMILARITY Belongs to the cytochrome c oxidase VIIb family. {ECO 0000305}. # SUBCELLULAR LOCATION COX7B_HUMAN Mitochondrion inner membrane {ECO 0000250}. # SUPFAM SSF81423 SSF81423 # UCSC uc004ecu human # eggNOG ENOG410J3GK Eukaryota # eggNOG ENOG4112BN9 LUCA BLAST swissprot:COX7B_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:COX7B_HUMAN BioCyc ZFISH:HS05498-MONOMER http://biocyc.org/getid?id=ZFISH:HS05498-MONOMER COXPRESdb 1349 http://coxpresdb.jp/data/gene/1349.shtml CleanEx HS_COX7B http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_COX7B DOI 10.1016/0167-4781(93)90301-S http://dx.doi.org/10.1016/0167-4781(93)90301-S DOI 10.1016/j.ajhg.2012.09.016 http://dx.doi.org/10.1016/j.ajhg.2012.09.016 DOI 10.1038/nature03440 http://dx.doi.org/10.1038/nature03440 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1432-1033.1992.tb19847.x http://dx.doi.org/10.1111/j.1432-1033.1992.tb19847.x DrugBank DB02659 http://www.drugbank.ca/drugs/DB02659 EMBL AK311879 http://www.ebi.ac.uk/ena/data/view/AK311879 EMBL AL356235 http://www.ebi.ac.uk/ena/data/view/AL356235 EMBL BC018386 http://www.ebi.ac.uk/ena/data/view/BC018386 EMBL BT009767 http://www.ebi.ac.uk/ena/data/view/BT009767 EMBL CH471104 http://www.ebi.ac.uk/ena/data/view/CH471104 EMBL CR450332 http://www.ebi.ac.uk/ena/data/view/CR450332 EMBL CR542124 http://www.ebi.ac.uk/ena/data/view/CR542124 EMBL Z14244 http://www.ebi.ac.uk/ena/data/view/Z14244 Ensembl ENST00000481445 http://www.ensembl.org/id/ENST00000481445 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0005746 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005746 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0045277 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045277 GO_function GO:0004129 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004129 GO_process GO:0006123 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006123 GO_process GO:0007417 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007417 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0016491 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016491 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006091 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 Gene3D 4.10.51.10 http://www.cathdb.info/version/latest/superfamily/4.10.51.10 GeneCards COX7B http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=COX7B GeneID 1349 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=1349 GeneTree ENSGT00390000012178 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000012178 HGNC HGNC:2291 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:2291 HOGENOM HOG000059529 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000059529&db=HOGENOM6 HOVERGEN HBG051092 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG051092&db=HOVERGEN HPA HPA058041 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA058041 InParanoid P24311 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P24311 IntAct P24311 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P24311* InterPro IPR008433 http://www.ebi.ac.uk/interpro/entry/IPR008433 InterPro IPR023272 http://www.ebi.ac.uk/interpro/entry/IPR023272 Jabion 1349 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=1349 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00002 http://www.genome.jp/dbget-bin/www_bget?ko00002 KEGG_Gene hsa:1349 http://www.genome.jp/dbget-bin/www_bget?hsa:1349 KEGG_Orthology KO:K02271 http://www.genome.jp/dbget-bin/www_bget?KO:K02271 KEGG_Pathway ko00190 http://www.genome.jp/kegg-bin/show_pathway?ko00190 KEGG_Pathway ko04260 http://www.genome.jp/kegg-bin/show_pathway?ko04260 KEGG_Pathway ko05010 http://www.genome.jp/kegg-bin/show_pathway?ko05010 KEGG_Pathway ko05012 http://www.genome.jp/kegg-bin/show_pathway?ko05012 KEGG_Pathway ko05016 http://www.genome.jp/kegg-bin/show_pathway?ko05016 MIM 300885 http://www.ncbi.nlm.nih.gov/omim/300885 MIM 300887 http://www.ncbi.nlm.nih.gov/omim/300887 OMA AVWAYTA http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=AVWAYTA Orphanet 2556 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=2556 OrthoDB EOG091G1342 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G1342 PANTHER PTHR16716 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR16716 PSORT swissprot:COX7B_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:COX7B_HUMAN PSORT-B swissprot:COX7B_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:COX7B_HUMAN PSORT2 swissprot:COX7B_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:COX7B_HUMAN Pfam PF05392 http://pfam.xfam.org/family/PF05392 PharmGKB PA26809 http://www.pharmgkb.org/do/serve?objId=PA26809&objCls=Gene Phobius swissprot:COX7B_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:COX7B_HUMAN PhylomeDB P24311 http://phylomedb.org/?seqid=P24311 ProteinModelPortal P24311 http://www.proteinmodelportal.org/query/uniprot/P24311 PubMed 1309697 http://www.ncbi.nlm.nih.gov/pubmed/1309697 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15772651 http://www.ncbi.nlm.nih.gov/pubmed/15772651 PubMed 23122588 http://www.ncbi.nlm.nih.gov/pubmed/23122588 PubMed 8382530 http://www.ncbi.nlm.nih.gov/pubmed/8382530 Reactome R-HSA-5628897 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5628897 Reactome R-HSA-611105 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-611105 RefSeq NP_001857 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001857 SMR P24311 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P24311 STRING 9606.ENSP00000417656 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000417656&targetmode=cogs SUPFAM SSF81423 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81423 UCSC uc004ecu http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc004ecu&org=rat UniGene Hs.522699 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.522699 UniProtKB COX7B_HUMAN http://www.uniprot.org/uniprot/COX7B_HUMAN UniProtKB-AC P24311 http://www.uniprot.org/uniprot/P24311 charge swissprot:COX7B_HUMAN http://rest.g-language.org/emboss/charge/swissprot:COX7B_HUMAN eggNOG ENOG410J3GK http://eggnogapi.embl.de/nog_data/html/tree/ENOG410J3GK eggNOG ENOG4112BN9 http://eggnogapi.embl.de/nog_data/html/tree/ENOG4112BN9 epestfind swissprot:COX7B_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:COX7B_HUMAN garnier swissprot:COX7B_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:COX7B_HUMAN helixturnhelix swissprot:COX7B_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:COX7B_HUMAN hmoment swissprot:COX7B_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:COX7B_HUMAN iep swissprot:COX7B_HUMAN http://rest.g-language.org/emboss/iep/swissprot:COX7B_HUMAN inforesidue swissprot:COX7B_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:COX7B_HUMAN neXtProt NX_P24311 http://www.nextprot.org/db/entry/NX_P24311 octanol swissprot:COX7B_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:COX7B_HUMAN pepcoil swissprot:COX7B_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:COX7B_HUMAN pepdigest swissprot:COX7B_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:COX7B_HUMAN pepinfo swissprot:COX7B_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:COX7B_HUMAN pepnet swissprot:COX7B_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:COX7B_HUMAN pepstats swissprot:COX7B_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:COX7B_HUMAN pepwheel swissprot:COX7B_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:COX7B_HUMAN pepwindow swissprot:COX7B_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:COX7B_HUMAN sigcleave swissprot:COX7B_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:COX7B_HUMAN ## Database ID URL or Descriptions # AltName XCT_HUMAN Amino acid transport system xc- # AltName XCT_HUMAN Calcium channel blocker resistance protein CCBR1 # AltName XCT_HUMAN Solute carrier family 7 member 11 # AltName XCT_HUMAN xCT # BioGrid 117179 2 # DrugBank DB00138 L-Cystine # DrugBank DB00740 Riluzole # DrugBank DB00795 Sulfasalazine # DrugBank DB01098 Rosuvastatin # DrugBank DB06151 Acetylcysteine # DrugBank DB08834 Tauroursodeoxycholic acid # Ensembl ENST00000280612 ENSP00000280612; ENSG00000151012 # ExpressionAtlas Q9UPY5 baseline and differential # FUNCTION XCT_HUMAN Sodium-independent, high-affinity exchange of anionic amino acids with high specificity for anionic form of cystine and glutamate. {ECO 0000269|PubMed 15151999}. # GO_component GO:0005791 rough endoplasmic reticulum; IEA:Ensembl. # GO_component GO:0005856 cytoskeleton; IEA:Ensembl. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0009986 cell surface; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; TAS:ProtInc. # GO_function XCT_HUMAN GO 0015327 cystine glutamate antiporter activity; TAS ProtInc. # GO_process GO:0006865 amino acid transport; TAS:Reactome. # GO_process GO:0006979 response to oxidative stress; IEA:Ensembl. # GO_process GO:0007420 brain development; IEA:Ensembl. # GO_process GO:0009636 response to toxic substance; IDA:UniProtKB. # GO_process GO:0035094 response to nicotine; IEA:Ensembl. # GO_process GO:0050900 leukocyte migration; TAS:Reactome. # GO_process GO:0070306 lens fiber cell differentiation; IEA:Ensembl. # GO_process GO:0070527 platelet aggregation; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_component GO:0005856 cytoskeleton # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0002376 immune system process # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007155 cell adhesion # GOslim_process GO:0008150 biological_process # GOslim_process GO:0030154 cell differentiation # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0048870 cell motility # Genevisible Q9UPY5 HS # HGNC HGNC:11059 SLC7A11 # INTERACTION XCT_HUMAN P16070 CD44; NbExp=4; IntAct=EBI-3843348, EBI-490245; # IntAct Q9UPY5 5 # InterPro IPR002293 AA/rel_permease1 # InterPro IPR004760 L_AA_transporter # KEGG_Brite ko02001 Solute carrier family # MIM 607933 gene # Organism XCT_HUMAN Homo sapiens (Human) # PANTHER PTHR11785 PTHR11785 # PIRSF PIRSF006060 AA_transporter # Pfam PF13520 AA_permease_2 # Proteomes UP000005640 Chromosome 4 # Reactome R-HSA-210991 Basigin interactions # Reactome R-HSA-352230 Amino acid transport across the plasma membrane # RecName XCT_HUMAN Cystine/glutamate transporter # RefSeq NP_055146 NM_014331.3 # SIMILARITY Belongs to the amino acid-polyamine-organocation (APC) superfamily. L-type amino acid transporter (LAT) (TC 2.A.3.8) family. {ECO 0000305}. # SUBCELLULAR LOCATION XCT_HUMAN Membrane {ECO 0000269|PubMed 15151999}; Multi-pass membrane protein {ECO 0000269|PubMed 15151999}. # SUBUNIT Disulfide-linked heterodimer with the amino acid transport protein SLC3A2/4F2hc. {ECO 0000250}. # TCDB 2.A.3.8.18 the amino acid-polyamine-organocation (apc) family # TIGRFAMs TIGR00911 2A0308 # UCSC uc062zqn human # eggNOG COG0531 LUCA # eggNOG KOG1287 Eukaryota BLAST swissprot:XCT_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:XCT_HUMAN BioCyc MetaCyc:ENSG00000151012-MONOMER http://biocyc.org/getid?id=MetaCyc:ENSG00000151012-MONOMER BioCyc ZFISH:ENSG00000151012-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000151012-MONOMER COXPRESdb 23657 http://coxpresdb.jp/data/gene/23657.shtml CleanEx HS_SLC7A11 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC7A11 DOI 10.1016/j.molcel.2008.07.007 http://dx.doi.org/10.1016/j.molcel.2008.07.007 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.M402428200 http://dx.doi.org/10.1074/jbc.M402428200 DOI 10.1074/mcp.M800588-MCP200 http://dx.doi.org/10.1074/mcp.M800588-MCP200 DOI 10.1089/ars.2000.2.4-665 http://dx.doi.org/10.1089/ars.2000.2.4-665 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DrugBank DB00138 http://www.drugbank.ca/drugs/DB00138 DrugBank DB00740 http://www.drugbank.ca/drugs/DB00740 DrugBank DB00795 http://www.drugbank.ca/drugs/DB00795 DrugBank DB01098 http://www.drugbank.ca/drugs/DB01098 DrugBank DB06151 http://www.drugbank.ca/drugs/DB06151 DrugBank DB08834 http://www.drugbank.ca/drugs/DB08834 EMBL AB026891 http://www.ebi.ac.uk/ena/data/view/AB026891 EMBL AF200708 http://www.ebi.ac.uk/ena/data/view/AF200708 EMBL AF252872 http://www.ebi.ac.uk/ena/data/view/AF252872 EMBL AJ277882 http://www.ebi.ac.uk/ena/data/view/AJ277882 EMBL AK290359 http://www.ebi.ac.uk/ena/data/view/AK290359 EMBL AK314855 http://www.ebi.ac.uk/ena/data/view/AK314855 EMBL BC012087 http://www.ebi.ac.uk/ena/data/view/BC012087 EMBL CH471056 http://www.ebi.ac.uk/ena/data/view/CH471056 Ensembl ENST00000280612 http://www.ensembl.org/id/ENST00000280612 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005791 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005791 GO_component GO:0005856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005856 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0009986 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009986 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0015327 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015327 GO_process GO:0006865 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006865 GO_process GO:0006979 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006979 GO_process GO:0007420 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007420 GO_process GO:0009636 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009636 GO_process GO:0035094 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035094 GO_process GO:0050900 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050900 GO_process GO:0070306 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070306 GO_process GO:0070527 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070527 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_component GO:0005856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005856 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0002376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002376 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007155 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007155 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0030154 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030154 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0048870 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048870 GeneCards SLC7A11 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC7A11 GeneID 23657 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=23657 GeneTree ENSGT00760000119037 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119037 HGNC HGNC:11059 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11059 HOGENOM HOG000098892 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000098892&db=HOGENOM6 HOVERGEN HBG000476 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG000476&db=HOVERGEN InParanoid Q9UPY5 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9UPY5 IntAct Q9UPY5 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9UPY5* InterPro IPR002293 http://www.ebi.ac.uk/interpro/entry/IPR002293 InterPro IPR004760 http://www.ebi.ac.uk/interpro/entry/IPR004760 Jabion 23657 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=23657 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:23657 http://www.genome.jp/dbget-bin/www_bget?hsa:23657 KEGG_Orthology KO:K13869 http://www.genome.jp/dbget-bin/www_bget?KO:K13869 MIM 607933 http://www.ncbi.nlm.nih.gov/omim/607933 OMA MHRPFKX http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=MHRPFKX OrthoDB EOG091G07EM http://cegg.unige.ch/orthodb/results?searchtext=EOG091G07EM PANTHER PTHR11785 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11785 PSORT swissprot:XCT_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:XCT_HUMAN PSORT-B swissprot:XCT_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:XCT_HUMAN PSORT2 swissprot:XCT_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:XCT_HUMAN Pfam PF13520 http://pfam.xfam.org/family/PF13520 PharmGKB PA35919 http://www.pharmgkb.org/do/serve?objId=PA35919&objCls=Gene Phobius swissprot:XCT_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:XCT_HUMAN PhylomeDB Q9UPY5 http://phylomedb.org/?seqid=Q9UPY5 ProteinModelPortal Q9UPY5 http://www.proteinmodelportal.org/query/uniprot/Q9UPY5 PubMed 11133847 http://www.ncbi.nlm.nih.gov/pubmed/11133847 PubMed 11213471 http://www.ncbi.nlm.nih.gov/pubmed/11213471 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15151999 http://www.ncbi.nlm.nih.gov/pubmed/15151999 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 18691976 http://www.ncbi.nlm.nih.gov/pubmed/18691976 PubMed 19369195 http://www.ncbi.nlm.nih.gov/pubmed/19369195 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 Reactome R-HSA-210991 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-210991 Reactome R-HSA-352230 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-352230 RefSeq NP_055146 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_055146 STRING 9606.ENSP00000280612 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000280612&targetmode=cogs TCDB 2.A.3.8.18 http://www.tcdb.org/search/result.php?tc=2.A.3.8.18 TIGRFAMs TIGR00911 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00911 UCSC uc062zqn http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc062zqn&org=rat UniGene Hs.390594 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.390594 UniProtKB XCT_HUMAN http://www.uniprot.org/uniprot/XCT_HUMAN UniProtKB-AC Q9UPY5 http://www.uniprot.org/uniprot/Q9UPY5 charge swissprot:XCT_HUMAN http://rest.g-language.org/emboss/charge/swissprot:XCT_HUMAN eggNOG COG0531 http://eggnogapi.embl.de/nog_data/html/tree/COG0531 eggNOG KOG1287 http://eggnogapi.embl.de/nog_data/html/tree/KOG1287 epestfind swissprot:XCT_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:XCT_HUMAN garnier swissprot:XCT_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:XCT_HUMAN helixturnhelix swissprot:XCT_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:XCT_HUMAN hmoment swissprot:XCT_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:XCT_HUMAN iep swissprot:XCT_HUMAN http://rest.g-language.org/emboss/iep/swissprot:XCT_HUMAN inforesidue swissprot:XCT_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:XCT_HUMAN neXtProt NX_Q9UPY5 http://www.nextprot.org/db/entry/NX_Q9UPY5 octanol swissprot:XCT_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:XCT_HUMAN pepcoil swissprot:XCT_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:XCT_HUMAN pepdigest swissprot:XCT_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:XCT_HUMAN pepinfo swissprot:XCT_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:XCT_HUMAN pepnet swissprot:XCT_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:XCT_HUMAN pepstats swissprot:XCT_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:XCT_HUMAN pepwheel swissprot:XCT_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:XCT_HUMAN pepwindow swissprot:XCT_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:XCT_HUMAN sigcleave swissprot:XCT_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:XCT_HUMAN ## Database ID URL or Descriptions # AltName GDC_HUMAN Graves disease autoantigen # AltName GDC_HUMAN Mitochondrial solute carrier protein homolog # AltName GDC_HUMAN Solute carrier family 25 member 16 # BioGrid 113727 20 # Ensembl ENST00000609923 ENSP00000476815; ENSG00000122912 # ExpressionAtlas P16260 baseline and differential # FUNCTION GDC_HUMAN Required for the accumulation of coenzyme A in the mitochondrial matrix. {ECO 0000269|PubMed 11158296}. # GO_component GO:0005743 mitochondrial inner membrane; TAS:Reactome. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0015291 secondary active transmembrane transporter activity; TAS:Reactome. # GO_function GO:0015297 antiporter activity; NAS:UniProtKB. # GO_process GO:0006810 transport; NAS:UniProtKB. # GO_process GO:0009108 coenzyme biosynthetic process; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0051186 cofactor metabolic process # Gene3D 1.50.40.10 -; 1. # Genevisible P16260 HS # HGNC HGNC:10986 SLC25A16 # InterPro IPR002067 Mit_carrier # InterPro IPR002167 Graves_DC # InterPro IPR018108 Mitochondrial_sb/sol_carrier # InterPro IPR023395 Mt_carrier_dom # KEGG_Brite ko02001 Solute carrier family # MIM 139080 gene # Organism GDC_HUMAN Homo sapiens (Human) # PIR A40141 A40141 # PRINTS PR00926 MITOCARRIER # PRINTS PR00928 GRAVESDC # PROSITE PS50920 SOLCAR; 3 # Pfam PF00153 Mito_carr; 3 # Proteomes UP000005640 Chromosome 10 # Reactome R-HSA-196783 Coenzyme A biosynthesis # RecName GDC_HUMAN Graves disease carrier protein # RefSeq NP_689920 NM_152707.3 # RefSeq XP_011538513 XM_011540211.2 # SEQUENCE CAUTION Sequence=AAA36329.1; Type=Frameshift; Positions=320; Evidence={ECO 0000305}; # SIMILARITY Belongs to the mitochondrial carrier (TC 2.A.29) family. {ECO 0000305}. # SIMILARITY Contains 3 Solcar repeats. {ECO:0000255|PROSITE- ProRule PRU00282}. # SUBCELLULAR LOCATION GDC_HUMAN Mitochondrion inner membrane {ECO 0000269|PubMed 11158296}; Multi-pass membrane protein {ECO 0000269|PubMed 11158296}. # SUPFAM SSF103506 SSF103506 # TCDB 2.A.29.12 the mitochondrial carrier (mc) family # UCSC uc001joi human # eggNOG ENOG410ZRF1 LUCA # eggNOG KOG0752 Eukaryota BLAST swissprot:GDC_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:GDC_HUMAN BioCyc ZFISH:ENSG00000122912-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000122912-MONOMER COXPRESdb 8034 http://coxpresdb.jp/data/gene/8034.shtml CleanEx HS_GDA http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_GDA CleanEx HS_SLC25A16 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC25A16 DOI 10.1038/nature02462 http://dx.doi.org/10.1038/nature02462 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1128/MCB.21.4.1089-1097.2001 http://dx.doi.org/10.1128/MCB.21.4.1089-1097.2001 DOI 10.1210/mend-3-9-1498 http://dx.doi.org/10.1210/mend-3-9-1498 EMBL AK290255 http://www.ebi.ac.uk/ena/data/view/AK290255 EMBL AL713888 http://www.ebi.ac.uk/ena/data/view/AL713888 EMBL BC030266 http://www.ebi.ac.uk/ena/data/view/BC030266 EMBL CH471083 http://www.ebi.ac.uk/ena/data/view/CH471083 EMBL M31659 http://www.ebi.ac.uk/ena/data/view/M31659 Ensembl ENST00000609923 http://www.ensembl.org/id/ENST00000609923 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0015291 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015291 GO_function GO:0015297 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015297 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0009108 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009108 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0051186 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051186 Gene3D 1.50.40.10 http://www.cathdb.info/version/latest/superfamily/1.50.40.10 GeneCards SLC25A16 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC25A16 GeneID 8034 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=8034 GeneTree ENSGT00760000119245 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119245 HGNC HGNC:10986 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10986 HOGENOM HOG000165726 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000165726&db=HOGENOM6 HOVERGEN HBG104402 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG104402&db=HOVERGEN HPA HPA044580 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA044580 InParanoid P16260 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P16260 InterPro IPR002067 http://www.ebi.ac.uk/interpro/entry/IPR002067 InterPro IPR002167 http://www.ebi.ac.uk/interpro/entry/IPR002167 InterPro IPR018108 http://www.ebi.ac.uk/interpro/entry/IPR018108 InterPro IPR023395 http://www.ebi.ac.uk/interpro/entry/IPR023395 Jabion 8034 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=8034 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:8034 http://www.genome.jp/dbget-bin/www_bget?hsa:8034 KEGG_Orthology KO:K15084 http://www.genome.jp/dbget-bin/www_bget?KO:K15084 MIM 139080 http://www.ncbi.nlm.nih.gov/omim/139080 OMA HHYKHLE http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=HHYKHLE OrthoDB EOG091G0C8S http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0C8S PRINTS PR00926 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00926 PRINTS PR00928 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00928 PROSITE PS50920 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50920 PSORT swissprot:GDC_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:GDC_HUMAN PSORT-B swissprot:GDC_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:GDC_HUMAN PSORT2 swissprot:GDC_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:GDC_HUMAN Pfam PF00153 http://pfam.xfam.org/family/PF00153 PharmGKB PA35862 http://www.pharmgkb.org/do/serve?objId=PA35862&objCls=Gene Phobius swissprot:GDC_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:GDC_HUMAN PhylomeDB P16260 http://phylomedb.org/?seqid=P16260 ProteinModelPortal P16260 http://www.proteinmodelportal.org/query/uniprot/P16260 PubMed 11158296 http://www.ncbi.nlm.nih.gov/pubmed/11158296 PubMed 1457817 http://www.ncbi.nlm.nih.gov/pubmed/1457817 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15164054 http://www.ncbi.nlm.nih.gov/pubmed/15164054 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 2575220 http://www.ncbi.nlm.nih.gov/pubmed/2575220 Reactome R-HSA-196783 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-196783 RefSeq NP_689920 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_689920 RefSeq XP_011538513 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011538513 STRING 9606.ENSP00000265870 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000265870&targetmode=cogs SUPFAM SSF103506 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103506 TCDB 2.A.29.12 http://www.tcdb.org/search/result.php?tc=2.A.29.12 UCSC uc001joi http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001joi&org=rat UniGene Hs.180408 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.180408 UniProtKB GDC_HUMAN http://www.uniprot.org/uniprot/GDC_HUMAN UniProtKB-AC P16260 http://www.uniprot.org/uniprot/P16260 charge swissprot:GDC_HUMAN http://rest.g-language.org/emboss/charge/swissprot:GDC_HUMAN eggNOG ENOG410ZRF1 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410ZRF1 eggNOG KOG0752 http://eggnogapi.embl.de/nog_data/html/tree/KOG0752 epestfind swissprot:GDC_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:GDC_HUMAN garnier swissprot:GDC_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:GDC_HUMAN helixturnhelix swissprot:GDC_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:GDC_HUMAN hmoment swissprot:GDC_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:GDC_HUMAN iep swissprot:GDC_HUMAN http://rest.g-language.org/emboss/iep/swissprot:GDC_HUMAN inforesidue swissprot:GDC_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:GDC_HUMAN neXtProt NX_P16260 http://www.nextprot.org/db/entry/NX_P16260 octanol swissprot:GDC_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:GDC_HUMAN pepcoil swissprot:GDC_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:GDC_HUMAN pepdigest swissprot:GDC_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:GDC_HUMAN pepinfo swissprot:GDC_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:GDC_HUMAN pepnet swissprot:GDC_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:GDC_HUMAN pepstats swissprot:GDC_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:GDC_HUMAN pepwheel swissprot:GDC_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:GDC_HUMAN pepwindow swissprot:GDC_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:GDC_HUMAN sigcleave swissprot:GDC_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:GDC_HUMAN ## Database ID URL or Descriptions # AltName ATOX1_HUMAN Metal transport protein ATX1 # BioGrid 106965 13 # CDD cd00371 HMA # ChiTaRS ATOX1 human # Ensembl ENST00000313115 ENSP00000316854; ENSG00000177556 # Ensembl ENST00000522710 ENSP00000429814; ENSG00000177556 # Ensembl ENST00000524142 ENSP00000430598; ENSG00000177556 # ExpressionAtlas O00244 baseline and differential # FUNCTION ATOX1_HUMAN Binds and deliver cytosolic copper to the copper ATPase proteins. May be important in cellular antioxidant defense. # GO_component GO:0005829 cytosol; TAS:UniProtKB. # GO_function GO:0005375 copper ion transmembrane transporter activity; IEA:Ensembl. # GO_function GO:0005507 copper ion binding; IDA:UniProtKB. # GO_function GO:0016530 metallochaperone activity; TAS:UniProtKB. # GO_function GO:0016531 copper chaperone activity; IDA:UniProtKB. # GO_function GO:0032767 copper-dependent protein binding; IPI:UniProtKB. # GO_process GO:0006825 copper ion transport; TAS:UniProtKB. # GO_process GO:0006878 cellular copper ion homeostasis; TAS:ProtInc. # GO_process GO:0006979 response to oxidative stress; TAS:ProtInc. # GO_process GO:0015680 intracellular copper ion transport; IBA:GO_Central. # GOslim_component GO:0005829 cytosol # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0042592 homeostatic process # Genevisible O00244 HS # HGNC HGNC:798 ATOX1 # INTERACTION ATOX1_HUMAN O43822 C21orf2; NbExp=3; IntAct=EBI-10179267, EBI-2835332; Q9NWS6 FAM118A; NbExp=5; IntAct=EBI-10179267, EBI-8638992; O95749 GGPS1; NbExp=3; IntAct=EBI-10179267, EBI-10179283; # IntAct O00244 5 # InterPro IPR006121 HMA_dom # InterPro IPR017969 Heavy-metal-associated_CS # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Pathway ko04978 Mineral absorption # MIM 602270 gene # Organism ATOX1_HUMAN Homo sapiens (Human) # PDB 1FE0 X-ray; 1.75 A; A/B=1-68 # PDB 1FE4 X-ray; 1.75 A; A/B=1-68 # PDB 1FEE X-ray; 1.80 A; A/B=1-68 # PDB 1TL4 NMR; -; A=1-68 # PDB 1TL5 NMR; -; A=1-68 # PDB 2K1R NMR; -; B=1-68 # PDB 2LQ9 NMR; -; A=1-68 # PDB 3CJK X-ray; 1.80 A; A=2-68 # PDB 3IWL X-ray; 1.60 A; A=1-68 # PDB 3IWX X-ray; 2.14 A; A/B=1-68 # PDB 4QOT X-ray; 2.20 A; A/B=1-68 # PDB 4YDX X-ray; 1.60 A; A=2-68 # PDB 4YEA X-ray; 2.14 A; A/B=2-68 # PDB 5T7L X-ray; 2.83 A; A=2-68 # PROSITE PS01047 HMA_1 # PROSITE PS50846 HMA_2 # Pfam PF00403 HMA # Proteomes UP000005640 Chromosome 5 # Reactome R-HSA-3299685 Detoxification of Reactive Oxygen Species # Reactome R-HSA-6803544 Ion influx/efflux at host-pathogen interface # RecName ATOX1_HUMAN Copper transport protein ATOX1 # RefSeq NP_004036 NM_004045.3 # SIMILARITY Belongs to the ATX1 family. {ECO 0000305}. # SIMILARITY Contains 1 HMA domain. {ECO:0000255|PROSITE- ProRule PRU00280}. # SUBUNIT ATOX1_HUMAN Interacts with ATP7B (PubMed 10966647). Interacts with ATP7A (PubMed 21667063). {ECO 0000269|PubMed 10966647, ECO 0000269|PubMed 21667063}. # SUPFAM SSF55008 SSF55008 # TISSUE SPECIFICITY ATOX1_HUMAN Ubiquitous. # UCSC uc003luk human # WEB RESOURCE ATOX1_HUMAN Name=NIEHS-SNPs; URL="http //egp.gs.washington.edu/data/atox1/"; # eggNOG COG2608 LUCA # eggNOG KOG1603 Eukaryota BLAST swissprot:ATOX1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ATOX1_HUMAN BioCyc ZFISH:ENSG00000177556-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000177556-MONOMER COG COG2608 http://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=COG2608 COXPRESdb 475 http://coxpresdb.jp/data/gene/475.shtml CleanEx HS_ATOX1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ATOX1 DOI 10.1007/s00018-011-0743-1 http://dx.doi.org/10.1007/s00018-011-0743-1 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/78999 http://dx.doi.org/10.1038/78999 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.272.14.9221 http://dx.doi.org/10.1074/jbc.272.14.9221 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1175371 http://dx.doi.org/10.1126/science.1175371 DOI 10.1186/1471-2156-4-4 http://dx.doi.org/10.1186/1471-2156-4-4 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AK293063 http://www.ebi.ac.uk/ena/data/view/AK293063 EMBL AY165037 http://www.ebi.ac.uk/ena/data/view/AY165037 EMBL AY986502 http://www.ebi.ac.uk/ena/data/view/AY986502 EMBL BC112248 http://www.ebi.ac.uk/ena/data/view/BC112248 EMBL BC112250 http://www.ebi.ac.uk/ena/data/view/BC112250 EMBL BT009786 http://www.ebi.ac.uk/ena/data/view/BT009786 EMBL CH471062 http://www.ebi.ac.uk/ena/data/view/CH471062 EMBL CH471062 http://www.ebi.ac.uk/ena/data/view/CH471062 EMBL U70660 http://www.ebi.ac.uk/ena/data/view/U70660 Ensembl ENST00000313115 http://www.ensembl.org/id/ENST00000313115 Ensembl ENST00000522710 http://www.ensembl.org/id/ENST00000522710 Ensembl ENST00000524142 http://www.ensembl.org/id/ENST00000524142 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_function GO:0005375 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005375 GO_function GO:0005507 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005507 GO_function GO:0016530 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016530 GO_function GO:0016531 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016531 GO_function GO:0032767 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032767 GO_process GO:0006825 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006825 GO_process GO:0006878 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006878 GO_process GO:0006979 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006979 GO_process GO:0015680 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015680 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GeneCards ATOX1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ATOX1 GeneID 475 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=475 GeneTree ENSGT00390000005805 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000005805 HGNC HGNC:798 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:798 HOGENOM HOG000038877 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000038877&db=HOGENOM6 HOVERGEN HBG050610 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050610&db=HOVERGEN HPA HPA055036 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA055036 InParanoid O00244 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O00244 IntAct O00244 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O00244* InterPro IPR006121 http://www.ebi.ac.uk/interpro/entry/IPR006121 InterPro IPR017969 http://www.ebi.ac.uk/interpro/entry/IPR017969 Jabion 475 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=475 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Gene hsa:475 http://www.genome.jp/dbget-bin/www_bget?hsa:475 KEGG_Orthology KO:K07213 http://www.genome.jp/dbget-bin/www_bget?KO:K07213 KEGG_Pathway ko04978 http://www.genome.jp/kegg-bin/show_pathway?ko04978 MIM 602270 http://www.ncbi.nlm.nih.gov/omim/602270 MINT MINT-105921 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-105921 PDB 1FE0 http://www.ebi.ac.uk/pdbe-srv/view/entry/1FE0 PDB 1FE4 http://www.ebi.ac.uk/pdbe-srv/view/entry/1FE4 PDB 1FEE http://www.ebi.ac.uk/pdbe-srv/view/entry/1FEE PDB 1TL4 http://www.ebi.ac.uk/pdbe-srv/view/entry/1TL4 PDB 1TL5 http://www.ebi.ac.uk/pdbe-srv/view/entry/1TL5 PDB 2K1R http://www.ebi.ac.uk/pdbe-srv/view/entry/2K1R PDB 2LQ9 http://www.ebi.ac.uk/pdbe-srv/view/entry/2LQ9 PDB 3CJK http://www.ebi.ac.uk/pdbe-srv/view/entry/3CJK PDB 3IWL http://www.ebi.ac.uk/pdbe-srv/view/entry/3IWL PDB 3IWX http://www.ebi.ac.uk/pdbe-srv/view/entry/3IWX PDB 4QOT http://www.ebi.ac.uk/pdbe-srv/view/entry/4QOT PDB 4YDX http://www.ebi.ac.uk/pdbe-srv/view/entry/4YDX PDB 4YEA http://www.ebi.ac.uk/pdbe-srv/view/entry/4YEA PDB 5T7L http://www.ebi.ac.uk/pdbe-srv/view/entry/5T7L PDBsum 1FE0 http://www.ebi.ac.uk/pdbsum/1FE0 PDBsum 1FE4 http://www.ebi.ac.uk/pdbsum/1FE4 PDBsum 1FEE http://www.ebi.ac.uk/pdbsum/1FEE PDBsum 1TL4 http://www.ebi.ac.uk/pdbsum/1TL4 PDBsum 1TL5 http://www.ebi.ac.uk/pdbsum/1TL5 PDBsum 2K1R http://www.ebi.ac.uk/pdbsum/2K1R PDBsum 2LQ9 http://www.ebi.ac.uk/pdbsum/2LQ9 PDBsum 3CJK http://www.ebi.ac.uk/pdbsum/3CJK PDBsum 3IWL http://www.ebi.ac.uk/pdbsum/3IWL PDBsum 3IWX http://www.ebi.ac.uk/pdbsum/3IWX PDBsum 4QOT http://www.ebi.ac.uk/pdbsum/4QOT PDBsum 4YDX http://www.ebi.ac.uk/pdbsum/4YDX PDBsum 4YEA http://www.ebi.ac.uk/pdbsum/4YEA PDBsum 5T7L http://www.ebi.ac.uk/pdbsum/5T7L PROSITE PS01047 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS01047 PROSITE PS50846 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50846 PSORT swissprot:ATOX1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ATOX1_HUMAN PSORT-B swissprot:ATOX1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ATOX1_HUMAN PSORT2 swissprot:ATOX1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ATOX1_HUMAN Pfam PF00403 http://pfam.xfam.org/family/PF00403 PharmGKB PA25096 http://www.pharmgkb.org/do/serve?objId=PA25096&objCls=Gene Phobius swissprot:ATOX1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ATOX1_HUMAN PhylomeDB O00244 http://phylomedb.org/?seqid=O00244 ProteinModelPortal O00244 http://www.proteinmodelportal.org/query/uniprot/O00244 PubMed 10966647 http://www.ncbi.nlm.nih.gov/pubmed/10966647 PubMed 12594858 http://www.ncbi.nlm.nih.gov/pubmed/12594858 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 19608861 http://www.ncbi.nlm.nih.gov/pubmed/19608861 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 21667063 http://www.ncbi.nlm.nih.gov/pubmed/21667063 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 9083055 http://www.ncbi.nlm.nih.gov/pubmed/9083055 Reactome R-HSA-3299685 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-3299685 Reactome R-HSA-6803544 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6803544 RefSeq NP_004036 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004036 SMR O00244 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=O00244 STRING 9606.ENSP00000316854 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000316854&targetmode=cogs STRING COG2608 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=COG2608&targetmode=cogs SUPFAM SSF55008 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF55008 UCSC uc003luk http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003luk&org=rat UniGene Hs.125213 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.125213 UniProtKB ATOX1_HUMAN http://www.uniprot.org/uniprot/ATOX1_HUMAN UniProtKB-AC O00244 http://www.uniprot.org/uniprot/O00244 charge swissprot:ATOX1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ATOX1_HUMAN eggNOG COG2608 http://eggnogapi.embl.de/nog_data/html/tree/COG2608 eggNOG KOG1603 http://eggnogapi.embl.de/nog_data/html/tree/KOG1603 epestfind swissprot:ATOX1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ATOX1_HUMAN garnier swissprot:ATOX1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ATOX1_HUMAN helixturnhelix swissprot:ATOX1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ATOX1_HUMAN hmoment swissprot:ATOX1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ATOX1_HUMAN iep swissprot:ATOX1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ATOX1_HUMAN inforesidue swissprot:ATOX1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ATOX1_HUMAN neXtProt NX_O00244 http://www.nextprot.org/db/entry/NX_O00244 octanol swissprot:ATOX1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ATOX1_HUMAN pepcoil swissprot:ATOX1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ATOX1_HUMAN pepdigest swissprot:ATOX1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ATOX1_HUMAN pepinfo swissprot:ATOX1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ATOX1_HUMAN pepnet swissprot:ATOX1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ATOX1_HUMAN pepstats swissprot:ATOX1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ATOX1_HUMAN pepwheel swissprot:ATOX1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ATOX1_HUMAN pepwindow swissprot:ATOX1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ATOX1_HUMAN sigcleave swissprot:ATOX1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ATOX1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S39A6_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q13433-1; Sequence=Displayed; Name=2; IsoId=Q13433-2; Sequence=VSP_014309, VSP_014310, VSP_014311; Note=No experimental confirmation available.; # AltName S39A6_HUMAN Estrogen-regulated protein LIV-1 # AltName S39A6_HUMAN Solute carrier family 39 member 6 # AltName S39A6_HUMAN Zrt- and Irt-like protein 6 # BioGrid 117332 14 # CCDS CCDS42428 -. [Q13433-1] # CCDS CCDS45854 -. [Q13433-2] # ChiTaRS SLC39A6 human # Ensembl ENST00000269187 ENSP00000269187; ENSG00000141424. [Q13433-1] # Ensembl ENST00000440549 ENSP00000401139; ENSG00000141424. [Q13433-2] # Ensembl ENST00000590986 ENSP00000465915; ENSG00000141424. [Q13433-1] # ExpressionAtlas Q13433 baseline and differential # FUNCTION S39A6_HUMAN May act as a zinc-influx transporter. {ECO 0000269|PubMed 12839489}. # GO_component GO:0005783 endoplasmic reticulum; IEA:Ensembl. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0005887 integral component of plasma membrane; IDA:BHF-UCL. # GO_component GO:0009986 cell surface; IDA:UniProtKB. # GO_component GO:0031258 lamellipodium membrane; IDA:UniProtKB. # GO_function GO:0005385 zinc ion transmembrane transporter activity; IDA:BHF-UCL. # GO_process GO:0006882 cellular zinc ion homeostasis; IDA:BHF-UCL. # GO_process GO:0071577 zinc II ion transmembrane transport; IMP:UniProtKB. # GO_process GO:0071578 zinc II ion transmembrane import; IDA:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Genevisible Q13433 HS # HGNC HGNC:18607 SLC39A6 # INDUCTION Up-regulated by estrogen in breast cancer cells lines. {ECO:0000269|PubMed 2903103}. # IntAct Q13433 4 # InterPro IPR003689 ZIP # KEGG_Brite ko02001 Solute carrier family # MIM 608731 gene # Organism S39A6_HUMAN Homo sapiens (Human) # PIR G02273 G02273 # PTM S39A6_HUMAN N-glycosylated. {ECO 0000269|PubMed 12839489, ECO 0000269|PubMed 19349973}. # Pfam PF02535 Zip; 2 # Proteomes UP000005640 Chromosome 18 # Reactome R-HSA-442380 Zinc influx into cells by the SLC39 gene family # RecName S39A6_HUMAN Zinc transporter ZIP6 # RefSeq NP_001092876 NM_001099406.1. [Q13433-2] # RefSeq NP_036451 NM_012319.3 # RefSeq XP_011524202 XM_011525900.1. [Q13433-1] # RefSeq XP_011524203 XM_011525901.1. [Q13433-1] # SEQUENCE CAUTION Sequence=BAG61161.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the ZIP transporter (TC 2.A.5) family. {ECO 0000305}. # SUBCELLULAR LOCATION S39A6_HUMAN Cell membrane {ECO 0000269|PubMed 12839489}; Multi-pass membrane protein {ECO 0000269|PubMed 12839489}. # TCDB 2.A.5.4.13 the zinc (zn(2+))-iron (fe(2+)) permease (zip) family # TISSUE SPECIFICITY Highly expressed in the breast, prostate, placenta, kidney, pituitary and corpus callosum. Weakly expressed in heart and intestine. Also highly expressed in cells derived from an adenocarcinoma of the cervix and lung carcinoma. {ECO:0000269|PubMed 12839489}. # UCSC uc002kzj human. [Q13433-1] # WEB RESOURCE S39A6_HUMAN Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http //atlasgeneticsoncology.org/Genes/SLC39A6ID44189ch18q12.html"; # eggNOG COG0428 LUCA # eggNOG KOG2693 Eukaryota BLAST swissprot:S39A6_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S39A6_HUMAN BioCyc ZFISH:ENSG00000141424-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000141424-MONOMER COXPRESdb 25800 http://coxpresdb.jp/data/gene/25800.shtml CleanEx HS_SLC39A6 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC39A6 DOI 10.1016/0303-7207(88)90105-0 http://dx.doi.org/10.1016/0303-7207(88)90105-0 DOI 10.1021/ac9004309 http://dx.doi.org/10.1021/ac9004309 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature03983 http://dx.doi.org/10.1038/nature03983 DOI 10.1038/nbt.1532 http://dx.doi.org/10.1038/nbt.1532 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1042/BJ20030478 http://dx.doi.org/10.1042/BJ20030478 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1110/ps.04682504 http://dx.doi.org/10.1110/ps.04682504 EMBL AC091060 http://www.ebi.ac.uk/ena/data/view/AC091060 EMBL AK299102 http://www.ebi.ac.uk/ena/data/view/AK299102 EMBL AK304079 http://www.ebi.ac.uk/ena/data/view/AK304079 EMBL BC008317 http://www.ebi.ac.uk/ena/data/view/BC008317 EMBL BC039498 http://www.ebi.ac.uk/ena/data/view/BC039498 EMBL CH471088 http://www.ebi.ac.uk/ena/data/view/CH471088 EMBL U41060 http://www.ebi.ac.uk/ena/data/view/U41060 Ensembl ENST00000269187 http://www.ensembl.org/id/ENST00000269187 Ensembl ENST00000440549 http://www.ensembl.org/id/ENST00000440549 Ensembl ENST00000590986 http://www.ensembl.org/id/ENST00000590986 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0009986 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009986 GO_component GO:0031258 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031258 GO_function GO:0005385 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005385 GO_process GO:0006882 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006882 GO_process GO:0071577 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071577 GO_process GO:0071578 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071578 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC39A6 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC39A6 GeneID 25800 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=25800 GeneTree ENSGT00760000119115 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119115 HGNC HGNC:18607 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:18607 HOGENOM HOG000013093 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000013093&db=HOGENOM6 HOVERGEN HBG055748 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG055748&db=HOVERGEN HPA HPA042377 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA042377 InParanoid Q13433 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q13433 IntAct Q13433 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q13433* InterPro IPR003689 http://www.ebi.ac.uk/interpro/entry/IPR003689 Jabion 25800 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=25800 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:25800 http://www.genome.jp/dbget-bin/www_bget?hsa:25800 KEGG_Orthology KO:K14712 http://www.genome.jp/dbget-bin/www_bget?KO:K14712 MIM 608731 http://www.ncbi.nlm.nih.gov/omim/608731 OMA HRPEHAS http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=HRPEHAS OrthoDB EOG091G02WM http://cegg.unige.ch/orthodb/results?searchtext=EOG091G02WM PSORT swissprot:S39A6_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S39A6_HUMAN PSORT-B swissprot:S39A6_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S39A6_HUMAN PSORT2 swissprot:S39A6_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S39A6_HUMAN Pfam PF02535 http://pfam.xfam.org/family/PF02535 PharmGKB PA134905551 http://www.pharmgkb.org/do/serve?objId=PA134905551&objCls=Gene Phobius swissprot:S39A6_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S39A6_HUMAN PhylomeDB Q13433 http://phylomedb.org/?seqid=Q13433 ProteinModelPortal Q13433 http://www.proteinmodelportal.org/query/uniprot/Q13433 PubMed 12839489 http://www.ncbi.nlm.nih.gov/pubmed/12839489 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15340161 http://www.ncbi.nlm.nih.gov/pubmed/15340161 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16177791 http://www.ncbi.nlm.nih.gov/pubmed/16177791 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 19349973 http://www.ncbi.nlm.nih.gov/pubmed/19349973 PubMed 19413330 http://www.ncbi.nlm.nih.gov/pubmed/19413330 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 2903103 http://www.ncbi.nlm.nih.gov/pubmed/2903103 Reactome R-HSA-442380 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-442380 RefSeq NP_001092876 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001092876 RefSeq NP_036451 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_036451 RefSeq XP_011524202 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011524202 RefSeq XP_011524203 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011524203 STRING 9606.ENSP00000269187 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000269187&targetmode=cogs TCDB 2.A.5.4.13 http://www.tcdb.org/search/result.php?tc=2.A.5.4.13 UCSC uc002kzj http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002kzj&org=rat UniGene Hs.79136 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.79136 UniProtKB S39A6_HUMAN http://www.uniprot.org/uniprot/S39A6_HUMAN UniProtKB-AC Q13433 http://www.uniprot.org/uniprot/Q13433 charge swissprot:S39A6_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S39A6_HUMAN eggNOG COG0428 http://eggnogapi.embl.de/nog_data/html/tree/COG0428 eggNOG KOG2693 http://eggnogapi.embl.de/nog_data/html/tree/KOG2693 epestfind swissprot:S39A6_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S39A6_HUMAN garnier swissprot:S39A6_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S39A6_HUMAN helixturnhelix swissprot:S39A6_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S39A6_HUMAN hmoment swissprot:S39A6_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S39A6_HUMAN iep swissprot:S39A6_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S39A6_HUMAN inforesidue swissprot:S39A6_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S39A6_HUMAN neXtProt NX_Q13433 http://www.nextprot.org/db/entry/NX_Q13433 octanol swissprot:S39A6_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S39A6_HUMAN pepcoil swissprot:S39A6_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S39A6_HUMAN pepdigest swissprot:S39A6_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S39A6_HUMAN pepinfo swissprot:S39A6_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S39A6_HUMAN pepnet swissprot:S39A6_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S39A6_HUMAN pepstats swissprot:S39A6_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S39A6_HUMAN pepwheel swissprot:S39A6_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S39A6_HUMAN pepwindow swissprot:S39A6_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S39A6_HUMAN sigcleave swissprot:S39A6_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S39A6_HUMAN ## Database ID URL or Descriptions # AltName COPT1_HUMAN Copper transporter 1 # AltName COPT1_HUMAN Solute carrier family 31 member 1 # BioGrid 107712 11 # DrugBank DB00188 Bortezomib # DrugBank DB00515 Cisplatin # DrugBank DB00526 Oxaliplatin # DrugBank DB00958 Carboplatin # Ensembl ENST00000374212 ENSP00000363329; ENSG00000136868 # ExpressionAtlas O15431 baseline and differential # FUNCTION COPT1_HUMAN High-affinity, saturable copper transporter involved in dietary copper uptake. {ECO 0000269|PubMed 11734551}. # GO_component GO:0005770 late endosome; IEA:Ensembl. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0043025 neuronal cell body; IEA:Ensembl. # GO_component GO:0055037 recycling endosome; IEA:Ensembl. # GO_function GO:0005375 copper ion transmembrane transporter activity; TAS:Reactome. # GO_function GO:0015088 copper uptake transmembrane transporter activity; IEA:Ensembl. # GO_process GO:0006825 copper ion transport; TAS:ProtInc. # GO_process GO:0006855 drug transmembrane transport; IEA:Ensembl. # GO_process GO:0006878 cellular copper ion homeostasis; IEA:Ensembl. # GO_process GO:0072719 cellular response to cisplatin; IEA:Ensembl. # GO_process GO:1902861 copper ion import into cell; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005768 endosome # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Genevisible O15431 HS # HGNC HGNC:11016 SLC31A1 # InterPro IPR007274 Cop_transporter # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02001 Solute carrier family # KEGG_Pathway ko04978 Mineral absorption # MIM 603085 gene # Organism COPT1_HUMAN Homo sapiens (Human) # PANTHER PTHR12483 PTHR12483 # PDB 2LS2 NMR; -; A=64-87 # PDB 2LS3 NMR; -; A=132-157 # PDB 2LS4 NMR; -; A=156-179 # PTM COPT1_HUMAN O-Glycosylation at Thr-27 protects from proteolytic cleavage in the N-terminal extracellular domain. {ECO 0000269|PubMed 17525160}. # Pfam PF04145 Ctr # Proteomes UP000005640 Chromosome 9 # Reactome R-HSA-425410 Metal ion SLC transporters # RecName COPT1_HUMAN High affinity copper uptake protein 1 # RefSeq NP_001850 NM_001859.3 # SIMILARITY Belongs to the copper transporter (Ctr) (TC 1.A.56) family. SLC31A subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION COPT1_HUMAN Cell membrane; Multi-pass membrane protein. Note=Localizes to the apical membrane in intestinal epithelial cells. {ECO 0000250}. # SUBUNIT Homotrimer. {ECO:0000269|PubMed 16501047}. # TCDB 1.A.56.1 the copper transporter (ctr) family # UCSC uc004bgu human # eggNOG ENOG4111I8D LUCA # eggNOG KOG3386 Eukaryota BLAST swissprot:COPT1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:COPT1_HUMAN BioCyc ZFISH:ENSG00000136868-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000136868-MONOMER COXPRESdb 1317 http://coxpresdb.jp/data/gene/1317.shtml CleanEx HS_SLC31A1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC31A1 DIP DIP-48727N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-48727N DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature02465 http://dx.doi.org/10.1038/nature02465 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.0509929103 http://dx.doi.org/10.1073/pnas.0509929103 DOI 10.1073/pnas.94.14.7481 http://dx.doi.org/10.1073/pnas.94.14.7481 DOI 10.1074/jbc.M104728200 http://dx.doi.org/10.1074/jbc.M104728200 DOI 10.1074/jbc.M701806200 http://dx.doi.org/10.1074/jbc.M701806200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 DrugBank DB00188 http://www.drugbank.ca/drugs/DB00188 DrugBank DB00515 http://www.drugbank.ca/drugs/DB00515 DrugBank DB00526 http://www.drugbank.ca/drugs/DB00526 DrugBank DB00958 http://www.drugbank.ca/drugs/DB00958 EMBL AK222866 http://www.ebi.ac.uk/ena/data/view/AK222866 EMBL AK292511 http://www.ebi.ac.uk/ena/data/view/AK292511 EMBL AL449305 http://www.ebi.ac.uk/ena/data/view/AL449305 EMBL AL831843 http://www.ebi.ac.uk/ena/data/view/AL831843 EMBL BC013611 http://www.ebi.ac.uk/ena/data/view/BC013611 EMBL CH471090 http://www.ebi.ac.uk/ena/data/view/CH471090 EMBL U83460 http://www.ebi.ac.uk/ena/data/view/U83460 Ensembl ENST00000374212 http://www.ensembl.org/id/ENST00000374212 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005770 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005770 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0043025 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043025 GO_component GO:0055037 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055037 GO_function GO:0005375 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005375 GO_function GO:0015088 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015088 GO_process GO:0006825 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006825 GO_process GO:0006855 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006855 GO_process GO:0006878 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006878 GO_process GO:0072719 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0072719 GO_process GO:1902861 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902861 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC31A1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC31A1 GeneID 1317 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=1317 GeneTree ENSGT00530000063415 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000063415 HGNC HGNC:11016 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11016 HOGENOM HOG000195393 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000195393&db=HOGENOM6 HOVERGEN HBG065767 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG065767&db=HOVERGEN HPA HPA013810 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA013810 InParanoid O15431 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O15431 InterPro IPR007274 http://www.ebi.ac.uk/interpro/entry/IPR007274 Jabion 1317 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=1317 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:1317 http://www.genome.jp/dbget-bin/www_bget?hsa:1317 KEGG_Orthology KO:K14686 http://www.genome.jp/dbget-bin/www_bget?KO:K14686 KEGG_Pathway ko04978 http://www.genome.jp/kegg-bin/show_pathway?ko04978 MIM 603085 http://www.ncbi.nlm.nih.gov/omim/603085 MINT MINT-5003806 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-5003806 OMA VGEVVHK http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=VGEVVHK OrthoDB EOG091G0VVR http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0VVR PANTHER PTHR12483 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12483 PDB 2LS2 http://www.ebi.ac.uk/pdbe-srv/view/entry/2LS2 PDB 2LS3 http://www.ebi.ac.uk/pdbe-srv/view/entry/2LS3 PDB 2LS4 http://www.ebi.ac.uk/pdbe-srv/view/entry/2LS4 PDBsum 2LS2 http://www.ebi.ac.uk/pdbsum/2LS2 PDBsum 2LS3 http://www.ebi.ac.uk/pdbsum/2LS3 PDBsum 2LS4 http://www.ebi.ac.uk/pdbsum/2LS4 PSORT swissprot:COPT1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:COPT1_HUMAN PSORT-B swissprot:COPT1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:COPT1_HUMAN PSORT2 swissprot:COPT1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:COPT1_HUMAN Pfam PF04145 http://pfam.xfam.org/family/PF04145 PharmGKB PA118 http://www.pharmgkb.org/do/serve?objId=PA118&objCls=Gene Phobius swissprot:COPT1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:COPT1_HUMAN PhylomeDB O15431 http://phylomedb.org/?seqid=O15431 ProteinModelPortal O15431 http://www.proteinmodelportal.org/query/uniprot/O15431 PubMed 11734551 http://www.ncbi.nlm.nih.gov/pubmed/11734551 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15164053 http://www.ncbi.nlm.nih.gov/pubmed/15164053 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16501047 http://www.ncbi.nlm.nih.gov/pubmed/16501047 PubMed 17525160 http://www.ncbi.nlm.nih.gov/pubmed/17525160 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 9207117 http://www.ncbi.nlm.nih.gov/pubmed/9207117 Reactome R-HSA-425410 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-425410 RefSeq NP_001850 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001850 SMR O15431 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=O15431 STRING 9606.ENSP00000363329 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000363329&targetmode=cogs TCDB 1.A.56.1 http://www.tcdb.org/search/result.php?tc=1.A.56.1 UCSC uc004bgu http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc004bgu&org=rat UniGene Hs.532315 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.532315 UniProtKB COPT1_HUMAN http://www.uniprot.org/uniprot/COPT1_HUMAN UniProtKB-AC O15431 http://www.uniprot.org/uniprot/O15431 charge swissprot:COPT1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:COPT1_HUMAN eggNOG ENOG4111I8D http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111I8D eggNOG KOG3386 http://eggnogapi.embl.de/nog_data/html/tree/KOG3386 epestfind swissprot:COPT1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:COPT1_HUMAN garnier swissprot:COPT1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:COPT1_HUMAN helixturnhelix swissprot:COPT1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:COPT1_HUMAN hmoment swissprot:COPT1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:COPT1_HUMAN iep swissprot:COPT1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:COPT1_HUMAN inforesidue swissprot:COPT1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:COPT1_HUMAN neXtProt NX_O15431 http://www.nextprot.org/db/entry/NX_O15431 octanol swissprot:COPT1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:COPT1_HUMAN pepcoil swissprot:COPT1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:COPT1_HUMAN pepdigest swissprot:COPT1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:COPT1_HUMAN pepinfo swissprot:COPT1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:COPT1_HUMAN pepnet swissprot:COPT1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:COPT1_HUMAN pepstats swissprot:COPT1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:COPT1_HUMAN pepwheel swissprot:COPT1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:COPT1_HUMAN pepwindow swissprot:COPT1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:COPT1_HUMAN sigcleave swissprot:COPT1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:COPT1_HUMAN ## Database ID URL or Descriptions # BioGrid 129036 4 # ChiTaRS SLC41A1 human # Ensembl ENST00000367137 ENSP00000356105; ENSG00000133065 # ExpressionAtlas Q8IVJ1 baseline and differential # FUNCTION S41A1_HUMAN Acts as a magnesium transporter that is responsive to magnesium balance. {ECO 0000269|PubMed 15713785}. # GO_component GO:0005623 cell; IMP:ParkinsonsUK-UCL. # GO_component GO:0005886 plasma membrane; IDA:ParkinsonsUK-UCL. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0016323 basolateral plasma membrane; IDA:ParkinsonsUK-UCL. # GO_component GO:0043234 protein complex; IDA:ParkinsonsUK-UCL. # GO_function GO:0015095 magnesium ion transmembrane transporter activity; IDA:ParkinsonsUK-UCL. # GO_function GO:0022892 substrate-specific transporter activity; IDA:ParkinsonsUK-UCL. # GO_function GO:0072509 divalent inorganic cation transmembrane transporter activity; ISS:ParkinsonsUK-UCL. # GO_function S41A1_HUMAN GO 0061768 magnesium sodium antiporter activity; IMP ParkinsonsUK-UCL. # GO_process GO:0010961 cellular magnesium ion homeostasis; IMP:ParkinsonsUK-UCL. # GO_process GO:0015693 magnesium ion transport; IDA:ParkinsonsUK-UCL. # GO_process GO:0055085 transmembrane transport; IBA:GO_Central. # GO_process GO:0070838 divalent metal ion transport; ISS:ParkinsonsUK-UCL. # GO_process GO:0071286 cellular response to magnesium ion; ISS:ParkinsonsUK-UCL. # GO_process GO:1903830 magnesium ion transmembrane transport; IDA:ParkinsonsUK-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005623 cell # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.10.357.20 -; 2. # Genevisible Q8IVJ1 HS # HGNC HGNC:19429 SLC41A1 # InterPro IPR006667 SLC41_membr_dom # KEGG_Brite ko02001 Solute carrier family # MIM 610801 gene # Organism S41A1_HUMAN Homo sapiens (Human) # Pfam PF01769 MgtE; 2 # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-425410 Metal ion SLC transporters # RecName S41A1_HUMAN Solute carrier family 41 member 1 # RefSeq NP_776253 NM_173854.5 # RefSeq XP_005245126 XM_005245069.2 # SIMILARITY Belongs to the SLC41A transporter family. {ECO 0000305}. # SUBCELLULAR LOCATION S41A1_HUMAN Cell membrane; Multi-pass membrane protein. # TCDB 1.A.26.2 the mg(2+) transporter-e (mgte) family # TISSUE SPECIFICITY Highest expression levels in heart and testis, slightly less in skeletal muscles, prostate, adrenal gland and thyroid, and weakest in the hematopoietic tissues bones marrow, lymph node, thymus and spleen. {ECO:0000269|PubMed 12810078}. # UCSC uc001hdh human # eggNOG ENOG410XSTG LUCA # eggNOG KOG3788 Eukaryota BLAST swissprot:S41A1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S41A1_HUMAN COXPRESdb 254428 http://coxpresdb.jp/data/gene/254428.shtml CleanEx HS_SLC41A1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC41A1 DOI 10.1016/S0006-291X(03)01030-1 http://dx.doi.org/10.1016/S0006-291X(03)01030-1 DOI 10.1152/physiolgenomics.00261.2004 http://dx.doi.org/10.1152/physiolgenomics.00261.2004 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 EMBL AJ514402 http://www.ebi.ac.uk/ena/data/view/AJ514402 EMBL AL831974 http://www.ebi.ac.uk/ena/data/view/AL831974 EMBL AL832001 http://www.ebi.ac.uk/ena/data/view/AL832001 EMBL AL832362 http://www.ebi.ac.uk/ena/data/view/AL832362 EMBL BX641054 http://www.ebi.ac.uk/ena/data/view/BX641054 EMBL BX648979 http://www.ebi.ac.uk/ena/data/view/BX648979 Ensembl ENST00000367137 http://www.ensembl.org/id/ENST00000367137 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005623 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005623 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0016323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016323 GO_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GO_function GO:0015095 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015095 GO_function GO:0022892 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022892 GO_function GO:0061768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061768 GO_function GO:0072509 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0072509 GO_process GO:0010961 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010961 GO_process GO:0015693 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015693 GO_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GO_process GO:0070838 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070838 GO_process GO:0071286 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071286 GO_process GO:1903830 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903830 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005623 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005623 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.10.357.20 http://www.cathdb.info/version/latest/superfamily/1.10.357.20 GeneCards SLC41A1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC41A1 GeneID 254428 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=254428 GeneTree ENSGT00390000016816 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000016816 H-InvDB HIX0001523 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0001523 HGNC HGNC:19429 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:19429 HOGENOM HOG000007017 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000007017&db=HOGENOM6 HOVERGEN HBG057187 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG057187&db=HOVERGEN HPA HPA015138 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA015138 InParanoid Q8IVJ1 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8IVJ1 IntAct Q8IVJ1 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q8IVJ1* InterPro IPR006667 http://www.ebi.ac.uk/interpro/entry/IPR006667 Jabion 254428 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=254428 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:254428 http://www.genome.jp/dbget-bin/www_bget?hsa:254428 KEGG_Orthology KO:K15122 http://www.genome.jp/dbget-bin/www_bget?KO:K15122 MIM 610801 http://www.ncbi.nlm.nih.gov/omim/610801 OMA DDWQYIY http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=DDWQYIY OrthoDB EOG091G08MB http://cegg.unige.ch/orthodb/results?searchtext=EOG091G08MB PSORT swissprot:S41A1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S41A1_HUMAN PSORT-B swissprot:S41A1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S41A1_HUMAN PSORT2 swissprot:S41A1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S41A1_HUMAN Pfam PF01769 http://pfam.xfam.org/family/PF01769 PharmGKB PA134889327 http://www.pharmgkb.org/do/serve?objId=PA134889327&objCls=Gene Phobius swissprot:S41A1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S41A1_HUMAN PhylomeDB Q8IVJ1 http://phylomedb.org/?seqid=Q8IVJ1 ProteinModelPortal Q8IVJ1 http://www.proteinmodelportal.org/query/uniprot/Q8IVJ1 PubMed 12810078 http://www.ncbi.nlm.nih.gov/pubmed/12810078 PubMed 15713785 http://www.ncbi.nlm.nih.gov/pubmed/15713785 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 Reactome R-HSA-425410 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-425410 RefSeq NP_776253 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_776253 RefSeq XP_005245126 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005245126 STRING 9606.ENSP00000356105 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000356105&targetmode=cogs TCDB 1.A.26.2 http://www.tcdb.org/search/result.php?tc=1.A.26.2 UCSC uc001hdh http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001hdh&org=rat UniGene Hs.20274 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.20274 UniProtKB S41A1_HUMAN http://www.uniprot.org/uniprot/S41A1_HUMAN UniProtKB-AC Q8IVJ1 http://www.uniprot.org/uniprot/Q8IVJ1 charge swissprot:S41A1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S41A1_HUMAN eggNOG ENOG410XSTG http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XSTG eggNOG KOG3788 http://eggnogapi.embl.de/nog_data/html/tree/KOG3788 epestfind swissprot:S41A1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S41A1_HUMAN garnier swissprot:S41A1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S41A1_HUMAN helixturnhelix swissprot:S41A1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S41A1_HUMAN hmoment swissprot:S41A1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S41A1_HUMAN iep swissprot:S41A1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S41A1_HUMAN inforesidue swissprot:S41A1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S41A1_HUMAN neXtProt NX_Q8IVJ1 http://www.nextprot.org/db/entry/NX_Q8IVJ1 octanol swissprot:S41A1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S41A1_HUMAN pepcoil swissprot:S41A1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S41A1_HUMAN pepdigest swissprot:S41A1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S41A1_HUMAN pepinfo swissprot:S41A1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S41A1_HUMAN pepnet swissprot:S41A1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S41A1_HUMAN pepstats swissprot:S41A1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S41A1_HUMAN pepwheel swissprot:S41A1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S41A1_HUMAN pepwindow swissprot:S41A1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S41A1_HUMAN sigcleave swissprot:S41A1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S41A1_HUMAN ## Database ID URL or Descriptions # AltName NMDE3_HUMAN Glutamate [NMDA] receptor subunit epsilon-3 # AltName NMDE3_HUMAN N-methyl D-aspartate receptor subtype 2C # BioGrid 109162 3 # DrugBank DB00145 Glycine # DrugBank DB00289 Atomoxetine # DrugBank DB00312 Pentobarbital # DrugBank DB00418 Secobarbital # DrugBank DB00454 Pethidine # DrugBank DB00659 Acamprosate # DrugBank DB00996 Gabapentin # DrugBank DB01174 Phenobarbital # DrugBank DB04896 Milnacipran # DrugBank DB06738 Ketobemidone # Ensembl ENST00000293190 ENSP00000293190; ENSG00000161509 # ExpressionAtlas Q14957 baseline and differential # FUNCTION NMDE3_HUMAN NMDA receptor subtype of glutamate-gated ion channels with high calcium permeability and voltage-dependent sensitivity to magnesium. Mediated by glycine. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0014069 postsynaptic density; IEA:Ensembl. # GO_component GO:0017146 NMDA selective glutamate receptor complex; IBA:GO_Central. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0045211 postsynaptic membrane; IEA:UniProtKB-SubCell. # GO_function GO:0004972 NMDA glutamate receptor activity; TAS:ProtInc. # GO_function GO:0005088 Ras guanyl-nucleotide exchange factor activity; TAS:Reactome. # GO_function GO:0005234 extracellular-glutamate-gated ion channel activity; IEA:InterPro. # GO_function GO:0005261 cation channel activity; IEA:Ensembl. # GO_process GO:0000165 MAPK cascade; TAS:Reactome. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0007215 glutamate receptor signaling pathway; TAS:ProtInc. # GO_process GO:0007268 chemical synaptic transmission; TAS:Reactome. # GO_process GO:0008104 protein localization; IEA:Ensembl. # GO_process GO:0009611 response to wounding; IEA:Ensembl. # GO_process GO:0033058 directional locomotion; IEA:Ensembl. # GO_process GO:0042177 negative regulation of protein catabolic process; IEA:Ensembl. # GO_process GO:0050885 neuromuscular process controlling balance; IEA:Ensembl. # GO_process GO:0060079 excitatory postsynaptic potential; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006464 cellular protein modification process # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # GOslim_process GO:0040011 locomotion # GOslim_process GO:0050877 neurological system process # Genevisible Q14957 HS # HGNC HGNC:4587 GRIN2C # INTERACTION NMDE3_HUMAN Q62936 Dlg3 (xeno); NbExp=6; IntAct=EBI-8285963, EBI-349596; P78352 DLG4; NbExp=4; IntAct=EBI-8285963, EBI-80389; P31016 Dlg4 (xeno); NbExp=2; IntAct=EBI-8285963, EBI-375655; # IntAct Q14957 3 # InterPro IPR001320 Iontro_rcpt # InterPro IPR001508 Iono_rcpt_met # InterPro IPR001828 ANF_lig-bd_rcpt # InterPro IPR018884 NMDAR2_C # InterPro IPR019594 Glu/Gly-bd # InterPro IPR028082 Peripla_BP_I # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04020 Calcium signaling pathway # KEGG_Pathway ko04080 Neuroactive ligand-receptor interaction # KEGG_Pathway ko04713 Circadian entrainment # KEGG_Pathway ko04720 Long-term potentiation # KEGG_Pathway ko04724 Glutamatergic synapse # KEGG_Pathway ko05010 Alzheimer's disease # KEGG_Pathway ko05014 Amyotrophic lateral sclerosis (ALS) # KEGG_Pathway ko05030 Cocaine addiction # KEGG_Pathway ko05031 Amphetamine addiction # KEGG_Pathway ko05033 Nicotine addiction # KEGG_Pathway ko05034 Alcoholism # MIM 138254 gene # Organism NMDE3_HUMAN Homo sapiens (Human) # PRINTS PR00177 NMDARECEPTOR # Pfam PF00060 Lig_chan # Pfam PF01094 ANF_receptor # Pfam PF10565 NMDAR2_C # Pfam PF10613 Lig_chan-Glu_bd # Proteomes UP000005640 Chromosome 17 # Reactome R-HSA-438066 Unblocking of NMDA receptor, glutamate binding and activation # Reactome R-HSA-442729 CREB phosphorylation through the activation of CaMKII # Reactome R-HSA-442982 Ras activation uopn Ca2+ infux through NMDA receptor # Reactome R-HSA-5673001 RAF/MAP kinase cascade # Reactome R-HSA-6794361 Interactions of neurexins and neuroligins at synapses # Reactome R-HSA-8849932 SALM protein interactions at the synapses # RecName NMDE3_HUMAN Glutamate receptor ionotropic, NMDA 2C # RefSeq NP_000826 NM_000835.4 # SIMILARITY Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. NR2C/GRIN2C subfamily. {ECO 0000305}. # SMART SM00079 PBPe # SMART SM00918 Lig_chan-Glu_bd # SUBCELLULAR LOCATION NMDE3_HUMAN Cell membrane; Multi-pass membrane protein. Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. # SUBUNIT Interacts with PDZ domains of PATJ and DLG4 (By similarity). Forms heteromeric channel of a zeta subunit (GRIN1), a epsilon subunit (GRIN2A, GRIN2B, GRIN2C or GRIN2D) and a third subunit (GRIN3A or GRIN3B). Interacts (via PDZ-binding motif) with SNX27 (via PDZ domain); the interaction is required for recycling to the plasma membrane when endocytosed and prevent degradation in lysosomes. {ECO:0000250, ECO 0000269|PubMed:21300787}. # SUPFAM SSF53822 SSF53822 # TCDB 1.A.10.1 the glutamate-gated ion channel (gic) family of neurotransmitter receptors # TISSUE SPECIFICITY NMDE3_HUMAN Mainly expressed in brain with predominant expression is in the cerebellum, also present in the hippocampus, amygdala, caudate nucleus, corpus callosum, subthalamic nuclei and thalamus. Detected in the heart, skeletal muscle and pancreas. # UCSC uc002jlt human # eggNOG ENOG410XNUR LUCA # eggNOG KOG1053 Eukaryota BLAST swissprot:NMDE3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:NMDE3_HUMAN BioCyc ZFISH:ENSG00000161509-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000161509-MONOMER COXPRESdb 2905 http://coxpresdb.jp/data/gene/2905.shtml CleanEx HS_GRIN2C http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_GRIN2C DOI 10.1016/S0169-328X(96)00146-5 http://dx.doi.org/10.1016/S0169-328X(96)00146-5 DOI 10.1038/nature04689 http://dx.doi.org/10.1038/nature04689 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1128/MCB.01044-10 http://dx.doi.org/10.1128/MCB.01044-10 DrugBank DB00145 http://www.drugbank.ca/drugs/DB00145 DrugBank DB00289 http://www.drugbank.ca/drugs/DB00289 DrugBank DB00312 http://www.drugbank.ca/drugs/DB00312 DrugBank DB00418 http://www.drugbank.ca/drugs/DB00418 DrugBank DB00454 http://www.drugbank.ca/drugs/DB00454 DrugBank DB00659 http://www.drugbank.ca/drugs/DB00659 DrugBank DB00996 http://www.drugbank.ca/drugs/DB00996 DrugBank DB01174 http://www.drugbank.ca/drugs/DB01174 DrugBank DB04896 http://www.drugbank.ca/drugs/DB04896 DrugBank DB06738 http://www.drugbank.ca/drugs/DB06738 EMBL AC068874 http://www.ebi.ac.uk/ena/data/view/AC068874 EMBL BC140801 http://www.ebi.ac.uk/ena/data/view/BC140801 EMBL L76224 http://www.ebi.ac.uk/ena/data/view/L76224 Ensembl ENST00000293190 http://www.ensembl.org/id/ENST00000293190 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0014069 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014069 GO_component GO:0017146 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0017146 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0045211 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045211 GO_function GO:0004972 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004972 GO_function GO:0005088 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005088 GO_function GO:0005234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005234 GO_function GO:0005261 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005261 GO_process GO:0000165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000165 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0007215 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007215 GO_process GO:0007268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007268 GO_process GO:0008104 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008104 GO_process GO:0009611 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009611 GO_process GO:0033058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033058 GO_process GO:0042177 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042177 GO_process GO:0050885 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050885 GO_process GO:0060079 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060079 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006464 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006464 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0040011 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0040011 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GeneCards GRIN2C http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=GRIN2C GeneID 2905 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=2905 GeneTree ENSGT00760000119186 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119186 H-InvDB HIX0039170 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0039170 HGNC HGNC:4587 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:4587 HOVERGEN HBG052636 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052636&db=HOVERGEN HPA CAB021094 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB021094 InParanoid Q14957 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q14957 IntAct Q14957 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q14957* InterPro IPR001320 http://www.ebi.ac.uk/interpro/entry/IPR001320 InterPro IPR001508 http://www.ebi.ac.uk/interpro/entry/IPR001508 InterPro IPR001828 http://www.ebi.ac.uk/interpro/entry/IPR001828 InterPro IPR018884 http://www.ebi.ac.uk/interpro/entry/IPR018884 InterPro IPR019594 http://www.ebi.ac.uk/interpro/entry/IPR019594 InterPro IPR028082 http://www.ebi.ac.uk/interpro/entry/IPR028082 Jabion 2905 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=2905 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:2905 http://www.genome.jp/dbget-bin/www_bget?hsa:2905 KEGG_Orthology KO:K05211 http://www.genome.jp/dbget-bin/www_bget?KO:K05211 KEGG_Pathway ko04020 http://www.genome.jp/kegg-bin/show_pathway?ko04020 KEGG_Pathway ko04080 http://www.genome.jp/kegg-bin/show_pathway?ko04080 KEGG_Pathway ko04713 http://www.genome.jp/kegg-bin/show_pathway?ko04713 KEGG_Pathway ko04720 http://www.genome.jp/kegg-bin/show_pathway?ko04720 KEGG_Pathway ko04724 http://www.genome.jp/kegg-bin/show_pathway?ko04724 KEGG_Pathway ko05010 http://www.genome.jp/kegg-bin/show_pathway?ko05010 KEGG_Pathway ko05014 http://www.genome.jp/kegg-bin/show_pathway?ko05014 KEGG_Pathway ko05030 http://www.genome.jp/kegg-bin/show_pathway?ko05030 KEGG_Pathway ko05031 http://www.genome.jp/kegg-bin/show_pathway?ko05031 KEGG_Pathway ko05033 http://www.genome.jp/kegg-bin/show_pathway?ko05033 KEGG_Pathway ko05034 http://www.genome.jp/kegg-bin/show_pathway?ko05034 MIM 138254 http://www.ncbi.nlm.nih.gov/omim/138254 MINT MINT-1776011 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1776011 OMA REACQEG http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=REACQEG OrthoDB EOG091G09KH http://cegg.unige.ch/orthodb/results?searchtext=EOG091G09KH PRINTS PR00177 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00177 PSORT swissprot:NMDE3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:NMDE3_HUMAN PSORT-B swissprot:NMDE3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:NMDE3_HUMAN PSORT2 swissprot:NMDE3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:NMDE3_HUMAN Pfam PF00060 http://pfam.xfam.org/family/PF00060 Pfam PF01094 http://pfam.xfam.org/family/PF01094 Pfam PF10565 http://pfam.xfam.org/family/PF10565 Pfam PF10613 http://pfam.xfam.org/family/PF10613 PharmGKB PA28981 http://www.pharmgkb.org/do/serve?objId=PA28981&objCls=Gene Phobius swissprot:NMDE3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:NMDE3_HUMAN PhylomeDB Q14957 http://phylomedb.org/?seqid=Q14957 ProteinModelPortal Q14957 http://www.proteinmodelportal.org/query/uniprot/Q14957 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16625196 http://www.ncbi.nlm.nih.gov/pubmed/16625196 PubMed 21300787 http://www.ncbi.nlm.nih.gov/pubmed/21300787 PubMed 9037519 http://www.ncbi.nlm.nih.gov/pubmed/9037519 Reactome R-HSA-438066 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-438066 Reactome R-HSA-442729 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-442729 Reactome R-HSA-442982 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-442982 Reactome R-HSA-5673001 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5673001 Reactome R-HSA-6794361 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6794361 Reactome R-HSA-8849932 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-8849932 RefSeq NP_000826 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000826 SMART SM00079 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00079 SMART SM00918 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00918 STRING 9606.ENSP00000293190 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000293190&targetmode=cogs SUPFAM SSF53822 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF53822 TCDB 1.A.10.1 http://www.tcdb.org/search/result.php?tc=1.A.10.1 UCSC uc002jlt http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002jlt&org=rat UniGene Hs.436980 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.436980 UniProtKB NMDE3_HUMAN http://www.uniprot.org/uniprot/NMDE3_HUMAN UniProtKB-AC Q14957 http://www.uniprot.org/uniprot/Q14957 charge swissprot:NMDE3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:NMDE3_HUMAN eggNOG ENOG410XNUR http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XNUR eggNOG KOG1053 http://eggnogapi.embl.de/nog_data/html/tree/KOG1053 epestfind swissprot:NMDE3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:NMDE3_HUMAN garnier swissprot:NMDE3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:NMDE3_HUMAN helixturnhelix swissprot:NMDE3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:NMDE3_HUMAN hmoment swissprot:NMDE3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:NMDE3_HUMAN iep swissprot:NMDE3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:NMDE3_HUMAN inforesidue swissprot:NMDE3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:NMDE3_HUMAN neXtProt NX_Q14957 http://www.nextprot.org/db/entry/NX_Q14957 octanol swissprot:NMDE3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:NMDE3_HUMAN pepcoil swissprot:NMDE3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:NMDE3_HUMAN pepdigest swissprot:NMDE3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:NMDE3_HUMAN pepinfo swissprot:NMDE3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:NMDE3_HUMAN pepnet swissprot:NMDE3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:NMDE3_HUMAN pepstats swissprot:NMDE3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:NMDE3_HUMAN pepwheel swissprot:NMDE3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:NMDE3_HUMAN pepwindow swissprot:NMDE3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:NMDE3_HUMAN sigcleave swissprot:NMDE3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:NMDE3_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS CLCKA_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=P51800-1; Sequence=Displayed; Name=2; IsoId=P51800-2; Sequence=VSP_044700; Note=No experimental confirmation available.; Name=3; IsoId=P51800-3; Sequence=VSP_045795; Note=No experimental confirmation available.; # AltName CLCKA_HUMAN ClC-K1 # CCDS CCDS167 -. [P51800-1] # CCDS CCDS41269 -. [P51800-3] # CCDS CCDS57973 -. [P51800-2] # DISEASE CLCKA_HUMAN Bartter syndrome 4B, neonatal, with sensorineural deafness (BARTS4B) [MIM 613090] A digenic form of Bartter syndrome, an autosomal recessive disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. BARTS4B is associated with sensorineural deafness. {ECO 0000269|PubMed 15044642, ECO 0000269|PubMed 18310267}. Note=The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry. Loss-of-function of both CLCNKA and CLCNKB results in the disease phenotype (PubMed 18310267). {ECO 0000269|PubMed 18310267}. # DrugBank DB04552 Niflumic Acid # ENZYME REGULATION Activated by extracellular calcium and inhibited by extracellular protons. {ECO:0000305|PubMed 23148261}. # Ensembl ENST00000331433 ENSP00000332771; ENSG00000186510. [P51800-1] # Ensembl ENST00000375692 ENSP00000364844; ENSG00000186510. [P51800-3] # Ensembl ENST00000439316 ENSP00000414445; ENSG00000186510. [P51800-2] # FUNCTION CLCKA_HUMAN Voltage-gated chloride channel. Chloride channels have several functions including the regulation of cell volume; membrane potential stabilization, signal transduction and transepithelial transport. May be important in urinary concentrating mechanisms. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0034707 chloride channel complex; IEA:UniProtKB-KW. # GO_function GO:0005247 voltage-gated chloride channel activity; TAS:Reactome. # GO_function GO:0031404 chloride ion binding; IBA:GO_Central. # GO_function GO:0046872 metal ion binding; IEA:UniProtKB-KW. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0007588 excretion; TAS:ProtInc. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:1902476 chloride transmembrane transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.10.3080.10 -; 2. # Genevisible P51800 HS # HGNC HGNC:2026 CLCNKA # IntAct P51800 9 # InterPro IPR000644 CBS_dom # InterPro IPR001807 Cl-channel_volt-gated # InterPro IPR002250 Cl_channel-K # InterPro IPR014743 Cl-channel_core # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00239 [Endocrine disease; Urinary system disease] Bartter syndrome # MIM 602024 gene # MIM 613090 phenotype # Organism CLCKA_HUMAN Homo sapiens (Human) # Orphanet 89938 Infantile Bartter syndrome with sensorineural deafness # PDB 2PFI X-ray; 1.60 A; A/B=533-687 # PIR C57713 C57713 # PRINTS PR00762 CLCHANNEL # PRINTS PR01119 CLCHANNELKDY # PROSITE PS51371 CBS; 2 # Pfam PF00571 CBS # Pfam PF00654 Voltage_CLC # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-2672351 Stimuli-sensing channels # RecName CLCKA_HUMAN Chloride channel protein ClC-Ka # RefSeq NP_001036169 NM_001042704.1. [P51800-3] # RefSeq NP_001244068 NM_001257139.1. [P51800-2] # RefSeq NP_004061 NM_004070.3. [P51800-1] # SIMILARITY Belongs to the chloride channel (TC 2.A.49) family. CLCNKA subfamily. {ECO 0000305}. # SIMILARITY Contains 2 CBS domains. {ECO:0000255|PROSITE- ProRule PRU00703}. # SMART SM00116 CBS # SUBCELLULAR LOCATION CLCKA_HUMAN Membrane; Multi-pass membrane protein. # SUBUNIT CLCKA_HUMAN Homodimer (PubMed 17562318). Interacts with BSND. Forms heteromers with BSND in the thin ascending limb of Henle (By similarity). {ECO 0000250|UniProtKB Q9WUB7, ECO 0000269|PubMed 17562318}. # SUPFAM SSF81340 SSF81340; 2 # TISSUE SPECIFICITY Expressed predominantly in the kidney. All nephron segments expressing BSND also express CLCNK proteins. {ECO:0000269|PubMed 11734858}. # UCSC uc001axu human. [P51800-1] # eggNOG COG0038 LUCA # eggNOG KOG0476 Eukaryota BLAST swissprot:CLCKA_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CLCKA_HUMAN BioCyc ZFISH:G66-31526-MONOMER http://biocyc.org/getid?id=ZFISH:G66-31526-MONOMER COXPRESdb 1187 http://coxpresdb.jp/data/gene/1187.shtml CleanEx HS_CLCNKA http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CLCNKA DIP DIP-29432N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-29432N DOI 10.1016/j.str.2007.04.013 http://dx.doi.org/10.1016/j.str.2007.04.013 DOI 10.1038/35107099 http://dx.doi.org/10.1038/35107099 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1056/NEJMoa032843 http://dx.doi.org/10.1056/NEJMoa032843 DOI 10.1073/pnas.91.15.6943 http://dx.doi.org/10.1073/pnas.91.15.6943 DOI 10.1085/jgp.201210878 http://dx.doi.org/10.1085/jgp.201210878 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1136/jmg.2007.052944 http://dx.doi.org/10.1136/jmg.2007.052944 DrugBank DB04552 http://www.drugbank.ca/drugs/DB04552 EMBL AK225550 http://www.ebi.ac.uk/ena/data/view/AK225550 EMBL AK298285 http://www.ebi.ac.uk/ena/data/view/AK298285 EMBL AL355994 http://www.ebi.ac.uk/ena/data/view/AL355994 EMBL AL355994 http://www.ebi.ac.uk/ena/data/view/AL355994 EMBL BC048282 http://www.ebi.ac.uk/ena/data/view/BC048282 EMBL BC053869 http://www.ebi.ac.uk/ena/data/view/BC053869 EMBL U93878 http://www.ebi.ac.uk/ena/data/view/U93878 EMBL Z30643 http://www.ebi.ac.uk/ena/data/view/Z30643 Ensembl ENST00000331433 http://www.ensembl.org/id/ENST00000331433 Ensembl ENST00000375692 http://www.ensembl.org/id/ENST00000375692 Ensembl ENST00000439316 http://www.ensembl.org/id/ENST00000439316 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0034707 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034707 GO_function GO:0005247 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005247 GO_function GO:0031404 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031404 GO_function GO:0046872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046872 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0007588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007588 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:1902476 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902476 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.10.3080.10 http://www.cathdb.info/version/latest/superfamily/1.10.3080.10 GeneCards CLCNKA http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CLCNKA GeneID 1187 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=1187 GeneTree ENSGT00760000119109 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119109 HGNC HGNC:2026 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:2026 HOGENOM HOG000231297 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231297&db=HOGENOM6 HOVERGEN HBG005332 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG005332&db=HOVERGEN HPA HPA057717 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA057717 InParanoid P51800 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P51800 IntAct P51800 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P51800* InterPro IPR000644 http://www.ebi.ac.uk/interpro/entry/IPR000644 InterPro IPR001807 http://www.ebi.ac.uk/interpro/entry/IPR001807 InterPro IPR002250 http://www.ebi.ac.uk/interpro/entry/IPR002250 InterPro IPR014743 http://www.ebi.ac.uk/interpro/entry/IPR014743 Jabion 1187 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=1187 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00239 http://www.genome.jp/dbget-bin/www_bget?H00239 KEGG_Gene hsa:1187 http://www.genome.jp/dbget-bin/www_bget?hsa:1187 KEGG_Orthology KO:K05017 http://www.genome.jp/dbget-bin/www_bget?KO:K05017 MIM 602024 http://www.ncbi.nlm.nih.gov/omim/602024 MIM 613090 http://www.ncbi.nlm.nih.gov/omim/613090 OMA PCPHIRR http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=PCPHIRR Orphanet 89938 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=89938 OrthoDB EOG091G01RJ http://cegg.unige.ch/orthodb/results?searchtext=EOG091G01RJ PDB 2PFI http://www.ebi.ac.uk/pdbe-srv/view/entry/2PFI PDBsum 2PFI http://www.ebi.ac.uk/pdbsum/2PFI PRINTS PR00762 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00762 PRINTS PR01119 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01119 PROSITE PS51371 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51371 PSORT swissprot:CLCKA_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CLCKA_HUMAN PSORT-B swissprot:CLCKA_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CLCKA_HUMAN PSORT2 swissprot:CLCKA_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CLCKA_HUMAN Pfam PF00571 http://pfam.xfam.org/family/PF00571 Pfam PF00654 http://pfam.xfam.org/family/PF00654 PharmGKB PA26553 http://www.pharmgkb.org/do/serve?objId=PA26553&objCls=Gene Phobius swissprot:CLCKA_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CLCKA_HUMAN PhylomeDB P51800 http://phylomedb.org/?seqid=P51800 ProteinModelPortal P51800 http://www.proteinmodelportal.org/query/uniprot/P51800 PubMed 11734858 http://www.ncbi.nlm.nih.gov/pubmed/11734858 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15044642 http://www.ncbi.nlm.nih.gov/pubmed/15044642 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 17562318 http://www.ncbi.nlm.nih.gov/pubmed/17562318 PubMed 18310267 http://www.ncbi.nlm.nih.gov/pubmed/18310267 PubMed 23148261 http://www.ncbi.nlm.nih.gov/pubmed/23148261 PubMed 8041726 http://www.ncbi.nlm.nih.gov/pubmed/8041726 Reactome R-HSA-2672351 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2672351 RefSeq NP_001036169 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001036169 RefSeq NP_001244068 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001244068 RefSeq NP_004061 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004061 SMART SM00116 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00116 SMR P51800 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P51800 STRING 9606.ENSP00000332771 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000332771&targetmode=cogs SUPFAM SSF81340 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81340 UCSC uc001axu http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001axu&org=rat UniGene Hs.591533 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.591533 UniProtKB CLCKA_HUMAN http://www.uniprot.org/uniprot/CLCKA_HUMAN UniProtKB-AC P51800 http://www.uniprot.org/uniprot/P51800 charge swissprot:CLCKA_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CLCKA_HUMAN eggNOG COG0038 http://eggnogapi.embl.de/nog_data/html/tree/COG0038 eggNOG KOG0476 http://eggnogapi.embl.de/nog_data/html/tree/KOG0476 epestfind swissprot:CLCKA_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CLCKA_HUMAN garnier swissprot:CLCKA_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CLCKA_HUMAN helixturnhelix swissprot:CLCKA_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CLCKA_HUMAN hmoment swissprot:CLCKA_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CLCKA_HUMAN iep swissprot:CLCKA_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CLCKA_HUMAN inforesidue swissprot:CLCKA_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CLCKA_HUMAN neXtProt NX_P51800 http://www.nextprot.org/db/entry/NX_P51800 octanol swissprot:CLCKA_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CLCKA_HUMAN pepcoil swissprot:CLCKA_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CLCKA_HUMAN pepdigest swissprot:CLCKA_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CLCKA_HUMAN pepinfo swissprot:CLCKA_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CLCKA_HUMAN pepnet swissprot:CLCKA_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CLCKA_HUMAN pepstats swissprot:CLCKA_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CLCKA_HUMAN pepwheel swissprot:CLCKA_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CLCKA_HUMAN pepwindow swissprot:CLCKA_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CLCKA_HUMAN sigcleave swissprot:CLCKA_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CLCKA_HUMAN ## Database ID URL or Descriptions # AltName COX8C_HUMAN Cytochrome c oxidase polypeptide 8 isoform 3 # AltName COX8C_HUMAN Cytochrome c oxidase polypeptide VIII isoform 3 # AltName COX8C_HUMAN Cytochrome c oxidase subunit 8-3 # AltName COX8C_HUMAN Cytochrome c oxidase subunit VIIIC # Ensembl ENST00000342144 ENSP00000340568; ENSG00000187581 # Ensembl ENST00000620478 ENSP00000480706; ENSG00000277018 # FUNCTION COX8C_HUMAN This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport. # GO_component GO:0005739 mitochondrion; IDA:MGI. # GO_component GO:0005751 mitochondrial respiratory chain complex IV; IBA:GO_Central. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0004129 cytochrome-c oxidase activity; IBA:GO_Central. # GO_process GO:0006123 mitochondrial electron transport, cytochrome c to oxygen; IBA:GO_Central. # GO_process GO:1902600 hydrogen ion transmembrane transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005739 mitochondrion # GOslim_component GO:0043234 protein complex # GOslim_function GO:0016491 oxidoreductase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006091 generation of precursor metabolites and energy # GOslim_process GO:0055085 transmembrane transport # Gene3D 4.10.81.10 -; 1. # Genevisible Q7Z4L0 HS # HGNC HGNC:24382 COX8C # InterPro IPR003205 Cyt_c_oxidase_su8 # InterPro IPR016070 Cyt_c_oxidase_su8/PSI_RC_su9 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Pathway ko00190 Oxidative phosphorylation # KEGG_Pathway ko04260 Cardiac muscle contraction # KEGG_Pathway ko05010 Alzheimer's disease # KEGG_Pathway ko05012 Parkinson's disease # KEGG_Pathway ko05016 Huntington's disease # MIM 616855 gene # Organism COX8C_HUMAN Homo sapiens (Human) # PANTHER PTHR16717 PTHR16717 # Pfam PF02285 COX8 # Proteomes UP000005640 Chromosome 14 # RecName COX8C_HUMAN Cytochrome c oxidase subunit 8C, mitochondrial # RefSeq NP_892016 NM_182971.2 # SIMILARITY Belongs to the cytochrome c oxidase VIII family. {ECO 0000305}. # SUBCELLULAR LOCATION COX8C_HUMAN Mitochondrion inner membrane. # SUPFAM SSF81431 SSF81431 # TCDB 3.D.4.11 the proton-translocating cytochrome oxidase (cox) superfamily # TISSUE SPECIFICITY COX8C_HUMAN It is not yet known where COX8C is expressed. # UCSC uc001ybt human # eggNOG ENOG410JK2D Eukaryota # eggNOG ENOG41114SW LUCA BLAST swissprot:COX8C_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:COX8C_HUMAN BioCyc ZFISH:G66-31869-MONOMER http://biocyc.org/getid?id=ZFISH:G66-31869-MONOMER COXPRESdb 341947 http://coxpresdb.jp/data/gene/341947.shtml CleanEx HS_COX8C http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_COX8C DOI 10.1016/S0378-1119(03)00604-8 http://dx.doi.org/10.1016/S0378-1119(03)00604-8 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AY161004 http://www.ebi.ac.uk/ena/data/view/AY161004 EMBL BC101125 http://www.ebi.ac.uk/ena/data/view/BC101125 EMBL BC101126 http://www.ebi.ac.uk/ena/data/view/BC101126 Ensembl ENST00000342144 http://www.ensembl.org/id/ENST00000342144 Ensembl ENST00000620478 http://www.ensembl.org/id/ENST00000620478 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005751 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005751 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0004129 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004129 GO_process GO:0006123 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006123 GO_process GO:1902600 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902600 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0016491 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016491 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006091 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 4.10.81.10 http://www.cathdb.info/version/latest/superfamily/4.10.81.10 GeneCards COX8C http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=COX8C GeneID 341947 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=341947 GeneTree ENSGT00390000012036 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000012036 HGNC HGNC:24382 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:24382 HOGENOM HOG000111895 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000111895&db=HOGENOM6 HPA HPA003127 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA003127 InParanoid Q7Z4L0 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q7Z4L0 InterPro IPR003205 http://www.ebi.ac.uk/interpro/entry/IPR003205 InterPro IPR016070 http://www.ebi.ac.uk/interpro/entry/IPR016070 Jabion 341947 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=341947 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00002 http://www.genome.jp/dbget-bin/www_bget?ko00002 KEGG_Gene hsa:341947 http://www.genome.jp/dbget-bin/www_bget?hsa:341947 KEGG_Orthology KO:K02273 http://www.genome.jp/dbget-bin/www_bget?KO:K02273 KEGG_Pathway ko00190 http://www.genome.jp/kegg-bin/show_pathway?ko00190 KEGG_Pathway ko04260 http://www.genome.jp/kegg-bin/show_pathway?ko04260 KEGG_Pathway ko05010 http://www.genome.jp/kegg-bin/show_pathway?ko05010 KEGG_Pathway ko05012 http://www.genome.jp/kegg-bin/show_pathway?ko05012 KEGG_Pathway ko05016 http://www.genome.jp/kegg-bin/show_pathway?ko05016 MIM 616855 http://www.ncbi.nlm.nih.gov/omim/616855 OMA CPARRHY http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=CPARRHY OrthoDB EOG091G1A16 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G1A16 PANTHER PTHR16717 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR16717 PSORT swissprot:COX8C_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:COX8C_HUMAN PSORT-B swissprot:COX8C_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:COX8C_HUMAN PSORT2 swissprot:COX8C_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:COX8C_HUMAN Pfam PF02285 http://pfam.xfam.org/family/PF02285 PharmGKB PA134909890 http://www.pharmgkb.org/do/serve?objId=PA134909890&objCls=Gene Phobius swissprot:COX8C_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:COX8C_HUMAN PhylomeDB Q7Z4L0 http://phylomedb.org/?seqid=Q7Z4L0 ProteinModelPortal Q7Z4L0 http://www.proteinmodelportal.org/query/uniprot/Q7Z4L0 PubMed 12909344 http://www.ncbi.nlm.nih.gov/pubmed/12909344 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 RefSeq NP_892016 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_892016 SMR Q7Z4L0 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q7Z4L0 STRING 9606.ENSP00000340568 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000340568&targetmode=cogs SUPFAM SSF81431 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81431 TCDB 3.D.4.11 http://www.tcdb.org/search/result.php?tc=3.D.4.11 UCSC uc001ybt http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001ybt&org=rat UniGene Hs.666459 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.666459 UniProtKB COX8C_HUMAN http://www.uniprot.org/uniprot/COX8C_HUMAN UniProtKB-AC Q7Z4L0 http://www.uniprot.org/uniprot/Q7Z4L0 charge swissprot:COX8C_HUMAN http://rest.g-language.org/emboss/charge/swissprot:COX8C_HUMAN eggNOG ENOG410JK2D http://eggnogapi.embl.de/nog_data/html/tree/ENOG410JK2D eggNOG ENOG41114SW http://eggnogapi.embl.de/nog_data/html/tree/ENOG41114SW epestfind swissprot:COX8C_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:COX8C_HUMAN garnier swissprot:COX8C_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:COX8C_HUMAN helixturnhelix swissprot:COX8C_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:COX8C_HUMAN hmoment swissprot:COX8C_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:COX8C_HUMAN iep swissprot:COX8C_HUMAN http://rest.g-language.org/emboss/iep/swissprot:COX8C_HUMAN inforesidue swissprot:COX8C_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:COX8C_HUMAN neXtProt NX_Q7Z4L0 http://www.nextprot.org/db/entry/NX_Q7Z4L0 octanol swissprot:COX8C_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:COX8C_HUMAN pepcoil swissprot:COX8C_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:COX8C_HUMAN pepdigest swissprot:COX8C_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:COX8C_HUMAN pepinfo swissprot:COX8C_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:COX8C_HUMAN pepnet swissprot:COX8C_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:COX8C_HUMAN pepstats swissprot:COX8C_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:COX8C_HUMAN pepwheel swissprot:COX8C_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:COX8C_HUMAN pepwindow swissprot:COX8C_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:COX8C_HUMAN sigcleave swissprot:COX8C_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:COX8C_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S29A1_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q99808-1; Sequence=Displayed; Name=2; IsoId=Q99808-2; Sequence=VSP_056579; Note=No experimental confirmation available.; # AltName S29A1_HUMAN Equilibrative nitrobenzylmercaptopurine riboside-sensitive nucleoside transporter # AltName S29A1_HUMAN Nucleoside transporter, es-type # AltName S29A1_HUMAN Solute carrier family 29 member 1 # BIOPHYSICOCHEMICAL PROPERTIES Kinetic parameters: KM=0.62 mM for adenosine {ECO 0000269|PubMed:12527552}; Note=Vmax for adenosine uptake is about the same for SLC29A1 and SLC29A2.; # BioGrid 108344 21 # CCDS CCDS4908 -. [Q99808-1] # ChiTaRS SLC29A1 human # DrugBank DB00441 Gemcitabine # DrugBank DB00544 Fluorouracil # DrugBank DB00642 Pemetrexed # DrugBank DB00811 Ribavirin # DrugBank DB00898 Ethanol # DrugBank DB00900 Didanosine # DrugBank DB00943 Zalcitabine # DrugBank DB00987 Cytarabine # DrugBank DB01033 Mercaptopurine # DrugBank DB01073 Fludarabine # Ensembl ENST00000371708 ENSP00000360773; ENSG00000112759. [Q99808-1] # Ensembl ENST00000371713 ENSP00000360778; ENSG00000112759. [Q99808-1] # Ensembl ENST00000371724 ENSP00000360789; ENSG00000112759. [Q99808-1] # Ensembl ENST00000371731 ENSP00000360796; ENSG00000112759. [Q99808-1] # Ensembl ENST00000371740 ENSP00000360805; ENSG00000112759. [Q99808-1] # Ensembl ENST00000371755 ENSP00000360820; ENSG00000112759. [Q99808-1] # Ensembl ENST00000393841 ENSP00000377424; ENSG00000112759. [Q99808-1] # Ensembl ENST00000393844 ENSP00000377427; ENSG00000112759. [Q99808-1] # Ensembl ENST00000427851 ENSP00000392668; ENSG00000112759. [Q99808-1] # FUNCTION S29A1_HUMAN Mediates both influx and efflux of nucleosides across the membrane (equilibrative transporter). It is sensitive (ES) to low concentrations of the inhibitor nitrobenzylmercaptopurine riboside (NBMPR) and is sodium-independent. It has a higher affinity for adenosine. Inhibited by dipyridamole and dilazep (anticancer chemotherapeutics drugs). # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0016323 basolateral plasma membrane; IDA:UniProtKB. # GO_component GO:0016324 apical plasma membrane; IDA:UniProtKB. # GO_component GO:0098794 postsynapse; IEA:GOC. # GO_function GO:0005337 nucleoside transmembrane transporter activity; TAS:Reactome. # GO_process GO:0006139 nucleobase-containing compound metabolic process; TAS:ProtInc. # GO_process GO:0007595 lactation; IEA:Ensembl. # GO_process GO:0015858 nucleoside transport; IDA:UniProtKB. # GO_process GO:0015862 uridine transport; IEA:Ensembl. # GO_process GO:0030431 sleep; IEA:Ensembl. # GO_process GO:0060079 excitatory postsynaptic potential; IEA:Ensembl. # GO_process GO:0071333 cellular response to glucose stimulus; IEA:Ensembl. # GO_process GO:0071456 cellular response to hypoxia; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0008150 biological_process # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0042592 homeostatic process # Genevisible Q99808 HS # HGNC HGNC:11003 SLC29A1 # IntAct Q99808 4 # InterPro IPR002259 Eqnu_transpt # InterPro IPR020846 MFS_dom # InterPro IPR030195 ENT1 # KEGG_Brite ko02001 Solute carrier family # MIM 602193 gene # Organism S29A1_HUMAN Homo sapiens (Human) # PANTHER PTHR10332 PTHR10332; 2 # PANTHER PTHR10332:SF9 PTHR10332:SF9; 2 # PIRSF PIRSF016379 ENT # PRINTS PR01130 DERENTRNSPRT # PTM S29A1_HUMAN Glycosylated. {ECO 0000269|PubMed 19349973}. # Pfam PF01733 Nucleoside_tran # Proteomes UP000005640 Chromosome 6 # Reactome R-HSA-83936 Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane # RecName S29A1_HUMAN Equilibrative nucleoside transporter 1 # RefSeq NP_001071643 NM_001078175.2. [Q99808-1] # RefSeq NP_001071645 NM_001078177.1. [Q99808-1] # RefSeq NP_001291391 NM_001304462.1. [Q99808-2] # RefSeq NP_001291392 NM_001304463.1 # RefSeq NP_001291394 NM_001304465.1 # RefSeq NP_001291395 NM_001304466.1 # RefSeq XP_005248935 XM_005248878.3. [Q99808-1] # RefSeq XP_005248936 XM_005248879.3. [Q99808-1] # RefSeq XP_005248937 XM_005248880.3. [Q99808-1] # RefSeq XP_005248938 XM_005248881.3. [Q99808-1] # RefSeq XP_005248939 XM_005248882.3. [Q99808-1] # SIMILARITY Belongs to the SLC29A/ENT transporter (TC 2.A.57) family. {ECO 0000305}. # SUBCELLULAR LOCATION S29A1_HUMAN Basolateral cell membrane; Multi-pass membrane protein. Apical cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. Note=Predominantly localized in the basolateral membrane in polarized MDCK cells. # SUBUNIT Identified in a complex with STOM. {ECO:0000269|PubMed 23219802}. # SUPFAM SSF103473 SSF103473; 3 # TCDB 2.A.57.1 the equilibrative nucleoside transporter (ent) family # TIGRFAMs TIGR00939 2a57 # TISSUE SPECIFICITY S29A1_HUMAN Detected in erythrocytes (at protein level). Expressed in heart, brain, mammary gland, erythrocytes and placenta, and also in fetal liver and spleen. {ECO 0000269|PubMed 12527552, ECO 0000269|PubMed 23219802}. # UCSC uc003owu human. [Q99808-1] # eggNOG ENOG410Y3MT LUCA # eggNOG KOG1479 Eukaryota BLAST swissprot:S29A1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S29A1_HUMAN COXPRESdb 2030 http://coxpresdb.jp/data/gene/2030.shtml CleanEx HS_SLC29A1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC29A1 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1007/s002800050040 http://dx.doi.org/10.1007/s002800050040 DOI 10.1016/j.bbamem.2012.11.030 http://dx.doi.org/10.1016/j.bbamem.2012.11.030 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature02055 http://dx.doi.org/10.1038/nature02055 DOI 10.1038/nbt.1532 http://dx.doi.org/10.1038/nbt.1532 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1038/nm0197-89 http://dx.doi.org/10.1038/nm0197-89 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1093/nar/gkf564 http://dx.doi.org/10.1093/nar/gkf564 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1133427 http://dx.doi.org/10.1126/science.1133427 DrugBank DB00441 http://www.drugbank.ca/drugs/DB00441 DrugBank DB00544 http://www.drugbank.ca/drugs/DB00544 DrugBank DB00642 http://www.drugbank.ca/drugs/DB00642 DrugBank DB00811 http://www.drugbank.ca/drugs/DB00811 DrugBank DB00898 http://www.drugbank.ca/drugs/DB00898 DrugBank DB00900 http://www.drugbank.ca/drugs/DB00900 DrugBank DB00943 http://www.drugbank.ca/drugs/DB00943 DrugBank DB00987 http://www.drugbank.ca/drugs/DB00987 DrugBank DB01033 http://www.drugbank.ca/drugs/DB01033 DrugBank DB01073 http://www.drugbank.ca/drugs/DB01073 EMBL AF079117 http://www.ebi.ac.uk/ena/data/view/AF079117 EMBL AF190884 http://www.ebi.ac.uk/ena/data/view/AF190884 EMBL AF495730 http://www.ebi.ac.uk/ena/data/view/AF495730 EMBL AK090491 http://www.ebi.ac.uk/ena/data/view/AK090491 EMBL AK090615 http://www.ebi.ac.uk/ena/data/view/AK090615 EMBL AL139392 http://www.ebi.ac.uk/ena/data/view/AL139392 EMBL BC001382 http://www.ebi.ac.uk/ena/data/view/BC001382 EMBL BC008954 http://www.ebi.ac.uk/ena/data/view/BC008954 EMBL CH471081 http://www.ebi.ac.uk/ena/data/view/CH471081 EMBL U81375 http://www.ebi.ac.uk/ena/data/view/U81375 Ensembl ENST00000371708 http://www.ensembl.org/id/ENST00000371708 Ensembl ENST00000371713 http://www.ensembl.org/id/ENST00000371713 Ensembl ENST00000371724 http://www.ensembl.org/id/ENST00000371724 Ensembl ENST00000371731 http://www.ensembl.org/id/ENST00000371731 Ensembl ENST00000371740 http://www.ensembl.org/id/ENST00000371740 Ensembl ENST00000371755 http://www.ensembl.org/id/ENST00000371755 Ensembl ENST00000393841 http://www.ensembl.org/id/ENST00000393841 Ensembl ENST00000393844 http://www.ensembl.org/id/ENST00000393844 Ensembl ENST00000427851 http://www.ensembl.org/id/ENST00000427851 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016323 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:0098794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0098794 GO_function GO:0005337 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005337 GO_process GO:0006139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006139 GO_process GO:0007595 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007595 GO_process GO:0015858 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015858 GO_process GO:0015862 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015862 GO_process GO:0030431 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030431 GO_process GO:0060079 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060079 GO_process GO:0071333 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071333 GO_process GO:0071456 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071456 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GeneCards SLC29A1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC29A1 GeneID 2030 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=2030 GeneTree ENSGT00390000002232 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000002232 HGNC HGNC:11003 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11003 HOGENOM HOG000007684 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000007684&db=HOGENOM6 HOVERGEN HBG074626 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG074626&db=HOVERGEN HPA HPA012383 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA012383 HPA HPA012384 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA012384 InParanoid Q99808 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q99808 IntAct Q99808 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q99808* InterPro IPR002259 http://www.ebi.ac.uk/interpro/entry/IPR002259 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 InterPro IPR030195 http://www.ebi.ac.uk/interpro/entry/IPR030195 Jabion 2030 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=2030 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:2030 http://www.genome.jp/dbget-bin/www_bget?hsa:2030 KEGG_Orthology KO:K15014 http://www.genome.jp/dbget-bin/www_bget?KO:K15014 MIM 602193 http://www.ncbi.nlm.nih.gov/omim/602193 MINT MINT-1034227 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1034227 OMA STWERYF http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=STWERYF OrthoDB EOG091G09WB http://cegg.unige.ch/orthodb/results?searchtext=EOG091G09WB PANTHER PTHR10332 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10332 PANTHER PTHR10332:SF9 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10332:SF9 PRINTS PR01130 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01130 PSORT swissprot:S29A1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S29A1_HUMAN PSORT-B swissprot:S29A1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S29A1_HUMAN PSORT2 swissprot:S29A1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S29A1_HUMAN Pfam PF01733 http://pfam.xfam.org/family/PF01733 PharmGKB PA154 http://www.pharmgkb.org/do/serve?objId=PA154&objCls=Gene Phobius swissprot:S29A1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S29A1_HUMAN PhylomeDB Q99808 http://phylomedb.org/?seqid=Q99808 ProteinModelPortal Q99808 http://www.proteinmodelportal.org/query/uniprot/Q99808 PubMed 10755314 http://www.ncbi.nlm.nih.gov/pubmed/10755314 PubMed 12384580 http://www.ncbi.nlm.nih.gov/pubmed/12384580 PubMed 12527552 http://www.ncbi.nlm.nih.gov/pubmed/12527552 PubMed 14574404 http://www.ncbi.nlm.nih.gov/pubmed/14574404 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16959974 http://www.ncbi.nlm.nih.gov/pubmed/16959974 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 19349973 http://www.ncbi.nlm.nih.gov/pubmed/19349973 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 23219802 http://www.ncbi.nlm.nih.gov/pubmed/23219802 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 8986748 http://www.ncbi.nlm.nih.gov/pubmed/8986748 Reactome R-HSA-83936 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-83936 RefSeq NP_001071643 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001071643 RefSeq NP_001071645 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001071645 RefSeq NP_001291391 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001291391 RefSeq NP_001291392 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001291392 RefSeq NP_001291394 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001291394 RefSeq NP_001291395 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001291395 RefSeq XP_005248935 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005248935 RefSeq XP_005248936 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005248936 RefSeq XP_005248937 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005248937 RefSeq XP_005248938 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005248938 RefSeq XP_005248939 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005248939 SMR Q99808 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q99808 STRING 9606.ENSP00000360773 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000360773&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.57.1 http://www.tcdb.org/search/result.php?tc=2.A.57.1 TIGRFAMs TIGR00939 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00939 UCSC uc003owu http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003owu&org=rat UniGene Hs.25450 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.25450 UniProtKB S29A1_HUMAN http://www.uniprot.org/uniprot/S29A1_HUMAN UniProtKB-AC Q99808 http://www.uniprot.org/uniprot/Q99808 charge swissprot:S29A1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S29A1_HUMAN eggNOG ENOG410Y3MT http://eggnogapi.embl.de/nog_data/html/tree/ENOG410Y3MT eggNOG KOG1479 http://eggnogapi.embl.de/nog_data/html/tree/KOG1479 epestfind swissprot:S29A1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S29A1_HUMAN garnier swissprot:S29A1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S29A1_HUMAN helixturnhelix swissprot:S29A1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S29A1_HUMAN hmoment swissprot:S29A1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S29A1_HUMAN iep swissprot:S29A1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S29A1_HUMAN inforesidue swissprot:S29A1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S29A1_HUMAN neXtProt NX_Q99808 http://www.nextprot.org/db/entry/NX_Q99808 octanol swissprot:S29A1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S29A1_HUMAN pepcoil swissprot:S29A1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S29A1_HUMAN pepdigest swissprot:S29A1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S29A1_HUMAN pepinfo swissprot:S29A1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S29A1_HUMAN pepnet swissprot:S29A1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S29A1_HUMAN pepstats swissprot:S29A1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S29A1_HUMAN pepwheel swissprot:S29A1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S29A1_HUMAN pepwindow swissprot:S29A1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S29A1_HUMAN sigcleave swissprot:S29A1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S29A1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS CAC1F_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=O60840-1; Sequence=Displayed; Name=2; IsoId=O60840-2; Sequence=VSP_036785; Name=3; IsoId=O60840-4; Sequence=VSP_045172; # AltName CAC1F_HUMAN Voltage-gated calcium channel subunit alpha Cav1.4 # CCDS CCDS35253 -. [O60840-1] # CCDS CCDS59166 -. [O60840-4] # CCDS CCDS59167 -. [O60840-2] # ChiTaRS CACNA1F human # DISEASE CAC1F_HUMAN Aaland island eye disease (AIED) [MIM 300600] A retinal disease characterized by a combination of fundus hypopigmentation, decreased visual acuity due to foveal hypoplasia, nystagmus, astigmatism, protan color vision defect, myopia, and defective dark adaptation. Except for progression of axial myopia, the disease can be considered to be a stationary condition. Electroretinography reveals abnormalities in both photopic and scotopic functions. {ECO 0000269|PubMed 17525176, ECO 0000269|PubMed 22194652}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE CAC1F_HUMAN Cone-rod dystrophy, X-linked 3 (CORDX3) [MIM 300476] An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa. {ECO 0000269|PubMed 16505158}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE CAC1F_HUMAN Night blindness, congenital stationary, 2A (CSNB2A) [MIM 300071] A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia. {ECO 0000269|PubMed 11281458, ECO 0000269|PubMed 12111638, ECO 0000269|PubMed 12187427, ECO 0000269|PubMed 15897456, ECO 0000269|PubMed 22194652, ECO 0000269|PubMed 9662399, ECO 0000269|PubMed 9662400}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DOMAIN CAC1F_HUMAN Each of the four internal repeats contains five hydrophobic transmembrane segments (S1, S2, S3, S5, S6) and one positively charged transmembrane segment (S4). S4 segments probably represent the voltage-sensor and are characterized by a series of positively charged amino acids at every third position. # DrugBank DB00393 Nimodipine # DrugBank DB00421 Spironolactone # DrugBank DB00568 Cinnarizine # DrugBank DB00661 Verapamil # DrugBank DB04855 Dronedarone # DrugBank DB04920 Clevidipine # Ensembl ENST00000323022 ENSP00000321618; ENSG00000102001. [O60840-2] # Ensembl ENST00000376251 ENSP00000365427; ENSG00000102001. [O60840-4] # Ensembl ENST00000376265 ENSP00000365441; ENSG00000102001. [O60840-1] # ExpressionAtlas O60840 baseline and differential # FUNCTION CAC1F_HUMAN Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1F gives rise to L-type calcium currents. Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group. They are blocked by dihydropyridines (DHP), phenylalkylamines, benzothiazepines, and by omega-agatoxin-IIIA (omega-Aga-IIIA). They are however insensitive to omega-conotoxin- GVIA (omega-CTx-GVIA) and omega-agatoxin-IVA (omega-Aga-IVA). # GO_component GO:0001750 photoreceptor outer segment; IEA:Ensembl. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005891 voltage-gated calcium channel complex; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; IDA:UniProtKB. # GO_component GO:0043204 perikaryon; IEA:Ensembl. # GO_function GO:0005245 voltage-gated calcium channel activity; IDA:UniProtKB. # GO_function GO:0008331 high voltage-gated calcium channel activity; IBA:GO_Central. # GO_function GO:0046872 metal ion binding; IEA:UniProtKB-KW. # GO_process GO:0007601 visual perception; IMP:UniProtKB. # GO_process GO:0043029 T cell homeostasis; IEA:InterPro. # GO_process GO:0050856 regulation of T cell receptor signaling pathway; IEA:InterPro. # GO_process GO:0050908 detection of light stimulus involved in visual perception; IMP:UniProtKB. # GO_process GO:0061337 cardiac conduction; TAS:Reactome. # GO_process GO:0086010 membrane depolarization during action potential; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0002376 immune system process # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0050877 neurological system process # Gene3D 1.20.120.350 -; 5. # Genevisible O60840 HS # HGNC HGNC:1393 CACNA1F # IntAct O60840 2 # InterPro IPR002077 VDCCAlpha1 # InterPro IPR005446 VDCC_L_a1su # InterPro IPR005821 Ion_trans_dom # InterPro IPR014873 VDCC_a1su_IQ # InterPro IPR027359 Channel_four-helix_dom # InterPro IPR030157 VDCC_L_a1F # InterPro IPR031649 GPHH_dom # InterPro IPR031688 CAC1F_C # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00481 [Inherited metabolic disease; Nervous system disease; Eye disease] Retinal cone dystrophy (RCD) # KEGG_Disease H00690 [Eye disease] Forsius-Eriksson syndrome # KEGG_Disease H00787 [Nervous system disease; Eye disease] Oguchi disease/ CSNB Oguchi type (CSNBO) # KEGG_Pathway ko04010 MAPK signaling pathway # KEGG_Pathway ko04020 Calcium signaling pathway # KEGG_Pathway ko04260 Cardiac muscle contraction # KEGG_Pathway ko04270 Vascular smooth muscle contraction # KEGG_Pathway ko04723 Retrograde endocannabinoid signaling # KEGG_Pathway ko04725 Cholinergic synapse # KEGG_Pathway ko04726 Serotonergic synapse # KEGG_Pathway ko04727 GABAergic synapse # KEGG_Pathway ko04912 GnRH signaling pathway # KEGG_Pathway ko05010 Alzheimer's disease # KEGG_Pathway ko05410 Hypertrophic cardiomyopathy (HCM) # KEGG_Pathway ko05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC) # KEGG_Pathway ko05414 Dilated cardiomyopathy # MIM 300071 phenotype # MIM 300110 gene # MIM 300476 phenotype # MIM 300600 phenotype # Organism CAC1F_HUMAN Homo sapiens (Human) # Orphanet 178333 Aland Islands eye disease # Orphanet 1872 Cone rod dystrophy # Orphanet 215 Congenital stationary night blindness # PANTHER PTHR10037:SF184 PTHR10037:SF184 # PRINTS PR00167 CACHANNEL # PRINTS PR01630 LVDCCALPHA1 # Pfam PF00520 Ion_trans; 4 # Pfam PF08763 Ca_chan_IQ # Pfam PF16885 CAC1F_C # Pfam PF16905 GPHH # Proteomes UP000005640 Chromosome X # Reactome R-HSA-5576892 Phase 0 - rapid depolarisation # Reactome R-HSA-5576893 Phase 2 - plateau phase # Reactome R-HSA-5576894 Phase 1 - inactivation of fast Na+ channels # RecName CAC1F_HUMAN Voltage-dependent L-type calcium channel subunit alpha-1F # RefSeq NP_001243718 NM_001256789.2. [O60840-2] # RefSeq NP_001243719 NM_001256790.2. [O60840-4] # RefSeq NP_005174 NM_005183.3. [O60840-1] # SEQUENCE CAUTION Sequence=AAB92359.1; Type=Erroneous gene model prediction; Evidence={ECO 0000305}; # SIMILARITY Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1F subfamily. {ECO 0000305}. # SMART SM01062 Ca_chan_IQ # SUBCELLULAR LOCATION CAC1F_HUMAN Membrane; Multi-pass membrane protein. # SUBUNIT CAC1F_HUMAN Voltage-dependent calcium channels are multisubunit complexes, consisting of alpha-1, alpha-2, beta and delta subunits in a 1 1 1 1 ratio. The channel activity is directed by the pore- forming and voltage-sensitive alpha-1 subunit. In many cases, this subunit is sufficient to generate voltage-sensitive calcium channel activity. The auxiliary subunits beta and alpha-2/delta linked by a disulfide bridge regulate the channel activity. Interacts (via IQ domain) with CABP4; in a calcium independent manner (By similarity). {ECO 0000250}. # TCDB 1.A.1.11.11 the voltage-gated ion channel (vic) superfamily # TISSUE SPECIFICITY Expression in skeletal muscle and retina. {ECO:0000269|PubMed 10873387}. # UCSC uc004dnb human. [O60840-1] # WEB RESOURCE CAC1F_HUMAN Name=Mutations of the CCNA1F gene; Note=Retina International's Scientific Newsletter; URL="http //www.retina-international.org/files/sci-news/cacnamut.htm"; # eggNOG ENOG410XNP6 LUCA # eggNOG KOG2301 Eukaryota BLAST swissprot:CAC1F_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CAC1F_HUMAN BioCyc ZFISH:ENSG00000102001-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000102001-MONOMER COXPRESdb 778 http://coxpresdb.jp/data/gene/778.shtml CleanEx HS_CACNA1F http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CACNA1F DOI 10.1006/geno.1997.4941 http://dx.doi.org/10.1006/geno.1997.4941 DOI 10.1006/geno.2000.6204 http://dx.doi.org/10.1006/geno.2000.6204 DOI 10.1007/s004390100461 http://dx.doi.org/10.1007/s004390100461 DOI 10.1038/940 http://dx.doi.org/10.1038/940 DOI 10.1038/947 http://dx.doi.org/10.1038/947 DOI 10.1038/nature03440 http://dx.doi.org/10.1038/nature03440 DOI 10.1038/sj.ejhg.5200828 http://dx.doi.org/10.1038/sj.ejhg.5200828 DOI 10.1073/pnas.0501907102 http://dx.doi.org/10.1073/pnas.0501907102 DOI 10.1076/opge.23.2.71.2214 http://dx.doi.org/10.1076/opge.23.2.71.2214 DOI 10.1086/508067 http://dx.doi.org/10.1086/508067 DOI 10.1124/mol.108.049981 http://dx.doi.org/10.1124/mol.108.049981 DOI 10.1136/jmg.2006.040741 http://dx.doi.org/10.1136/jmg.2006.040741 DOI 10.1167/iovs.06-1103 http://dx.doi.org/10.1167/iovs.06-1103 DrugBank DB00393 http://www.drugbank.ca/drugs/DB00393 DrugBank DB00421 http://www.drugbank.ca/drugs/DB00421 DrugBank DB00568 http://www.drugbank.ca/drugs/DB00568 DrugBank DB00661 http://www.drugbank.ca/drugs/DB00661 DrugBank DB04855 http://www.drugbank.ca/drugs/DB04855 DrugBank DB04920 http://www.drugbank.ca/drugs/DB04920 EMBL AF067227 http://www.ebi.ac.uk/ena/data/view/AF067227 EMBL AF196779 http://www.ebi.ac.uk/ena/data/view/AF196779 EMBL AF201304 http://www.ebi.ac.uk/ena/data/view/AF201304 EMBL AF235097 http://www.ebi.ac.uk/ena/data/view/AF235097 EMBL AJ006216 http://www.ebi.ac.uk/ena/data/view/AJ006216 EMBL AJ224874 http://www.ebi.ac.uk/ena/data/view/AJ224874 EMBL JF701915 http://www.ebi.ac.uk/ena/data/view/JF701915 EMBL U93305 http://www.ebi.ac.uk/ena/data/view/U93305 Ensembl ENST00000323022 http://www.ensembl.org/id/ENST00000323022 Ensembl ENST00000376251 http://www.ensembl.org/id/ENST00000376251 Ensembl ENST00000376265 http://www.ensembl.org/id/ENST00000376265 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0001750 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001750 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005891 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005891 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0043204 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043204 GO_function GO:0005245 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005245 GO_function GO:0008331 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008331 GO_function GO:0046872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046872 GO_process GO:0007601 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007601 GO_process GO:0043029 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043029 GO_process GO:0050856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050856 GO_process GO:0050908 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050908 GO_process GO:0061337 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061337 GO_process GO:0086010 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086010 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0002376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002376 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 Gene3D 1.20.120.350 http://www.cathdb.info/version/latest/superfamily/1.20.120.350 GeneCards CACNA1F http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CACNA1F GeneID 778 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=778 GeneTree ENSGT00830000128247 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00830000128247 HGNC HGNC:1393 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:1393 HOGENOM HOG000231529 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231529&db=HOGENOM6 HOVERGEN HBG050763 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050763&db=HOVERGEN InParanoid O60840 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O60840 IntAct O60840 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O60840* InterPro IPR002077 http://www.ebi.ac.uk/interpro/entry/IPR002077 InterPro IPR005446 http://www.ebi.ac.uk/interpro/entry/IPR005446 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR014873 http://www.ebi.ac.uk/interpro/entry/IPR014873 InterPro IPR027359 http://www.ebi.ac.uk/interpro/entry/IPR027359 InterPro IPR030157 http://www.ebi.ac.uk/interpro/entry/IPR030157 InterPro IPR031649 http://www.ebi.ac.uk/interpro/entry/IPR031649 InterPro IPR031688 http://www.ebi.ac.uk/interpro/entry/IPR031688 Jabion 778 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=778 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00481 http://www.genome.jp/dbget-bin/www_bget?H00481 KEGG_Disease H00690 http://www.genome.jp/dbget-bin/www_bget?H00690 KEGG_Disease H00787 http://www.genome.jp/dbget-bin/www_bget?H00787 KEGG_Gene hsa:778 http://www.genome.jp/dbget-bin/www_bget?hsa:778 KEGG_Orthology KO:K04853 http://www.genome.jp/dbget-bin/www_bget?KO:K04853 KEGG_Pathway ko04010 http://www.genome.jp/kegg-bin/show_pathway?ko04010 KEGG_Pathway ko04020 http://www.genome.jp/kegg-bin/show_pathway?ko04020 KEGG_Pathway ko04260 http://www.genome.jp/kegg-bin/show_pathway?ko04260 KEGG_Pathway ko04270 http://www.genome.jp/kegg-bin/show_pathway?ko04270 KEGG_Pathway ko04723 http://www.genome.jp/kegg-bin/show_pathway?ko04723 KEGG_Pathway ko04725 http://www.genome.jp/kegg-bin/show_pathway?ko04725 KEGG_Pathway ko04726 http://www.genome.jp/kegg-bin/show_pathway?ko04726 KEGG_Pathway ko04727 http://www.genome.jp/kegg-bin/show_pathway?ko04727 KEGG_Pathway ko04912 http://www.genome.jp/kegg-bin/show_pathway?ko04912 KEGG_Pathway ko05010 http://www.genome.jp/kegg-bin/show_pathway?ko05010 KEGG_Pathway ko05410 http://www.genome.jp/kegg-bin/show_pathway?ko05410 KEGG_Pathway ko05412 http://www.genome.jp/kegg-bin/show_pathway?ko05412 KEGG_Pathway ko05414 http://www.genome.jp/kegg-bin/show_pathway?ko05414 MIM 300071 http://www.ncbi.nlm.nih.gov/omim/300071 MIM 300110 http://www.ncbi.nlm.nih.gov/omim/300110 MIM 300476 http://www.ncbi.nlm.nih.gov/omim/300476 MIM 300600 http://www.ncbi.nlm.nih.gov/omim/300600 OMA DGHNAPR http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=DGHNAPR Orphanet 178333 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=178333 Orphanet 1872 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1872 Orphanet 215 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=215 OrthoDB EOG091G0TKO http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0TKO PANTHER PTHR10037:SF184 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10037:SF184 PRINTS PR00167 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00167 PRINTS PR01630 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01630 PSORT swissprot:CAC1F_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CAC1F_HUMAN PSORT-B swissprot:CAC1F_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CAC1F_HUMAN PSORT2 swissprot:CAC1F_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CAC1F_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF08763 http://pfam.xfam.org/family/PF08763 Pfam PF16885 http://pfam.xfam.org/family/PF16885 Pfam PF16905 http://pfam.xfam.org/family/PF16905 PharmGKB PA26010 http://www.pharmgkb.org/do/serve?objId=PA26010&objCls=Gene Phobius swissprot:CAC1F_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CAC1F_HUMAN PhylomeDB O60840 http://phylomedb.org/?seqid=O60840 ProteinModelPortal O60840 http://www.proteinmodelportal.org/query/uniprot/O60840 PubMed 10873387 http://www.ncbi.nlm.nih.gov/pubmed/10873387 PubMed 11281458 http://www.ncbi.nlm.nih.gov/pubmed/11281458 PubMed 12111638 http://www.ncbi.nlm.nih.gov/pubmed/12111638 PubMed 12187427 http://www.ncbi.nlm.nih.gov/pubmed/12187427 PubMed 15772651 http://www.ncbi.nlm.nih.gov/pubmed/15772651 PubMed 15897456 http://www.ncbi.nlm.nih.gov/pubmed/15897456 PubMed 16505158 http://www.ncbi.nlm.nih.gov/pubmed/16505158 PubMed 16960802 http://www.ncbi.nlm.nih.gov/pubmed/16960802 PubMed 17525176 http://www.ncbi.nlm.nih.gov/pubmed/17525176 PubMed 19029287 http://www.ncbi.nlm.nih.gov/pubmed/19029287 PubMed 22194652 http://www.ncbi.nlm.nih.gov/pubmed/22194652 PubMed 9344658 http://www.ncbi.nlm.nih.gov/pubmed/9344658 PubMed 9662399 http://www.ncbi.nlm.nih.gov/pubmed/9662399 PubMed 9662400 http://www.ncbi.nlm.nih.gov/pubmed/9662400 Reactome R-HSA-5576892 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576892 Reactome R-HSA-5576893 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576893 Reactome R-HSA-5576894 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576894 RefSeq NP_001243718 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001243718 RefSeq NP_001243719 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001243719 RefSeq NP_005174 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_005174 SMART SM01062 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM01062 STRING 9606.ENSP00000365441 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000365441&targetmode=cogs TCDB 1.A.1.11.11 http://www.tcdb.org/search/result.php?tc=1.A.1.11.11 UCSC uc004dnb http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc004dnb&org=rat UniGene Hs.632799 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.632799 UniProtKB CAC1F_HUMAN http://www.uniprot.org/uniprot/CAC1F_HUMAN UniProtKB-AC O60840 http://www.uniprot.org/uniprot/O60840 charge swissprot:CAC1F_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CAC1F_HUMAN eggNOG ENOG410XNP6 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XNP6 eggNOG KOG2301 http://eggnogapi.embl.de/nog_data/html/tree/KOG2301 epestfind swissprot:CAC1F_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CAC1F_HUMAN garnier swissprot:CAC1F_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CAC1F_HUMAN helixturnhelix swissprot:CAC1F_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CAC1F_HUMAN hmoment swissprot:CAC1F_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CAC1F_HUMAN iep swissprot:CAC1F_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CAC1F_HUMAN inforesidue swissprot:CAC1F_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CAC1F_HUMAN neXtProt NX_O60840 http://www.nextprot.org/db/entry/NX_O60840 octanol swissprot:CAC1F_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CAC1F_HUMAN pepcoil swissprot:CAC1F_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CAC1F_HUMAN pepdigest swissprot:CAC1F_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CAC1F_HUMAN pepinfo swissprot:CAC1F_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CAC1F_HUMAN pepnet swissprot:CAC1F_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CAC1F_HUMAN pepstats swissprot:CAC1F_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CAC1F_HUMAN pepwheel swissprot:CAC1F_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CAC1F_HUMAN pepwindow swissprot:CAC1F_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CAC1F_HUMAN sigcleave swissprot:CAC1F_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CAC1F_HUMAN ## Database ID URL or Descriptions # AltName TIM22_HUMAN Testis-expressed sequence 4 # BioGrid 118969 3 # Ensembl ENST00000327158 ENSP00000320236; ENSG00000177370 # Ensembl ENST00000613269 ENSP00000482204; ENSG00000278501 # Ensembl ENST00000617832 ENSP00000478463; ENSG00000277649 # FUNCTION TIM22_HUMAN Essential core component of the TIM22 complex, a complex that mediates the import and insertion of multi-pass transmembrane proteins into the mitochondrial inner membrane. In the TIM22 complex, it constitutes the voltage-activated and signal-gated channel. Forms a twin-pore translocase that uses the membrane potential as external driving force in 2 voltage-dependent steps (By similarity). {ECO 0000250}. # GO_component GO:0005743 mitochondrial inner membrane; TAS:BHF-UCL. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0042721 mitochondrial inner membrane protein insertion complex; IBA:GO_Central. # GO_function GO:0015266 protein channel activity; TAS:BHF-UCL. # GO_function GO:0030943 mitochondrion targeting sequence binding; IBA:GO_Central. # GO_process GO:0006626 protein targeting to mitochondrion; TAS:Reactome. # GO_process GO:0045039 protein import into mitochondrial inner membrane; TAS:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0008565 protein transporter activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006605 protein targeting # GOslim_process GO:0007005 mitochondrion organization # GOslim_process GO:0055085 transmembrane transport # GOslim_process GO:0061024 membrane organization # Genevisible Q9Y584 HS # HGNC HGNC:17317 TIMM22 # IntAct Q9Y584 4 # InterPro IPR003397 Tim17/Tim22/Tim23/PMP24 # MIM 607251 gene # Organism TIM22_HUMAN Homo sapiens (Human) # Pfam PF02466 Tim17 # Proteomes UP000005640 Chromosome 17 # Reactome R-HSA-1268020 Mitochondrial protein import # RecName TIM22_HUMAN Mitochondrial import inner membrane translocase subunit Tim22 # RefSeq NP_037469 NM_013337.3 # SIMILARITY Belongs to the Tim17/Tim22/Tim23 family. {ECO 0000305}. # SUBCELLULAR LOCATION TIM22_HUMAN Mitochondrion inner membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. # SUBUNIT Component of the TIM22 complex, whose core is composed of TIMM22, associated with peripheral protein FXC1/TIM10B and the 70 kDa heterohexamer. In most cases, the 70 kDa complex is composed of TIMM9 and TIMM10. A small fraction of the 70 kDa complex is composed of TIM8 (TIMM8A/DDP1 or TIMM8B/DDP2) and TIMM13. Interacts directly with TIMM9, TIMM10/TIM10A and FXC1/TIM10B. {ECO:0000269|PubMed 14726512}. # UCSC uc002fsc human # eggNOG COG5596 LUCA # eggNOG KOG3225 Eukaryota BLAST swissprot:TIM22_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:TIM22_HUMAN BioCyc ZFISH:ENSG00000177370-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000177370-MONOMER COXPRESdb 29928 http://coxpresdb.jp/data/gene/29928.shtml CleanEx HS_TIMM22 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_TIMM22 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1016/S0014-5793(99)01665-8 http://dx.doi.org/10.1016/S0014-5793(99)01665-8 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.M312485200 http://dx.doi.org/10.1074/jbc.M312485200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AF155330 http://www.ebi.ac.uk/ena/data/view/AF155330 EMBL AK000830 http://www.ebi.ac.uk/ena/data/view/AK000830 EMBL BC002324 http://www.ebi.ac.uk/ena/data/view/BC002324 Ensembl ENST00000327158 http://www.ensembl.org/id/ENST00000327158 Ensembl ENST00000613269 http://www.ensembl.org/id/ENST00000613269 Ensembl ENST00000617832 http://www.ensembl.org/id/ENST00000617832 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0042721 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042721 GO_function GO:0015266 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015266 GO_function GO:0030943 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030943 GO_process GO:0006626 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006626 GO_process GO:0045039 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045039 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006605 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006605 GOslim_process GO:0007005 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007005 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GOslim_process GO:0061024 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061024 GeneCards TIMM22 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=TIMM22 GeneID 29928 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=29928 GeneTree ENSGT00390000016067 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000016067 HGNC HGNC:17317 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:17317 HOGENOM HOG000161169 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000161169&db=HOGENOM6 HOVERGEN HBG054910 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG054910&db=HOVERGEN HPA HPA045138 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA045138 InParanoid Q9Y584 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9Y584 IntAct Q9Y584 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9Y584* InterPro IPR003397 http://www.ebi.ac.uk/interpro/entry/IPR003397 Jabion 29928 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=29928 KEGG_Gene hsa:29928 http://www.genome.jp/dbget-bin/www_bget?hsa:29928 MIM 607251 http://www.ncbi.nlm.nih.gov/omim/607251 OMA TTHSYAK http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=TTHSYAK OrthoDB EOG091G0SGH http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0SGH PSORT swissprot:TIM22_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:TIM22_HUMAN PSORT-B swissprot:TIM22_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:TIM22_HUMAN PSORT2 swissprot:TIM22_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:TIM22_HUMAN Pfam PF02466 http://pfam.xfam.org/family/PF02466 PharmGKB PA38230 http://www.pharmgkb.org/do/serve?objId=PA38230&objCls=Gene Phobius swissprot:TIM22_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:TIM22_HUMAN PhylomeDB Q9Y584 http://phylomedb.org/?seqid=Q9Y584 ProteinModelPortal Q9Y584 http://www.proteinmodelportal.org/query/uniprot/Q9Y584 PubMed 10611480 http://www.ncbi.nlm.nih.gov/pubmed/10611480 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 14726512 http://www.ncbi.nlm.nih.gov/pubmed/14726512 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 Reactome R-HSA-1268020 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1268020 RefSeq NP_037469 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_037469 STRING 9606.ENSP00000320236 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000320236&targetmode=cogs UCSC uc002fsc http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002fsc&org=rat UniGene Hs.745034 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.745034 UniProtKB TIM22_HUMAN http://www.uniprot.org/uniprot/TIM22_HUMAN UniProtKB-AC Q9Y584 http://www.uniprot.org/uniprot/Q9Y584 charge swissprot:TIM22_HUMAN http://rest.g-language.org/emboss/charge/swissprot:TIM22_HUMAN eggNOG COG5596 http://eggnogapi.embl.de/nog_data/html/tree/COG5596 eggNOG KOG3225 http://eggnogapi.embl.de/nog_data/html/tree/KOG3225 epestfind swissprot:TIM22_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:TIM22_HUMAN garnier swissprot:TIM22_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:TIM22_HUMAN helixturnhelix swissprot:TIM22_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:TIM22_HUMAN hmoment swissprot:TIM22_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:TIM22_HUMAN iep swissprot:TIM22_HUMAN http://rest.g-language.org/emboss/iep/swissprot:TIM22_HUMAN inforesidue swissprot:TIM22_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:TIM22_HUMAN neXtProt NX_Q9Y584 http://www.nextprot.org/db/entry/NX_Q9Y584 octanol swissprot:TIM22_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:TIM22_HUMAN pepcoil swissprot:TIM22_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:TIM22_HUMAN pepdigest swissprot:TIM22_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:TIM22_HUMAN pepinfo swissprot:TIM22_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:TIM22_HUMAN pepnet swissprot:TIM22_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:TIM22_HUMAN pepstats swissprot:TIM22_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:TIM22_HUMAN pepwheel swissprot:TIM22_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:TIM22_HUMAN pepwindow swissprot:TIM22_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:TIM22_HUMAN sigcleave swissprot:TIM22_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:TIM22_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS MFRN2_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q96A46-1; Sequence=Displayed; Name=2; IsoId=Q96A46-2; Sequence=VSP_018414; Name=3; IsoId=Q96A46-3; Sequence=VSP_018413, VSP_018415; # AltName MFRN2_HUMAN Mitochondrial RNA-splicing protein 3/4 homolog # AltName MFRN2_HUMAN Mitochondrial iron transporter 2 # AltName MFRN2_HUMAN Solute carrier family 25 member 28 # BioGrid 123626 3 # CCDS CCDS41559 -. [Q96A46-1] # ChiTaRS SLC25A28 human # Ensembl ENST00000370495 ENSP00000359526; ENSG00000155287. [Q96A46-1] # ExpressionAtlas Q96A46 baseline and differential # FUNCTION MFRN2_HUMAN Mitochondrial iron transporter that mediates iron uptake. Probably required for heme synthesis of hemoproteins and Fe-S cluster assembly in non-erythroid cells. The iron delivered into the mitochondria, presumably as Fe(2+), is then probably delivered to ferrochelatase to catalyze Fe(2+) incorporation into protoprophyrin IX to make heme (By similarity). {ECO 0000250}. # GO_component GO:0005743 mitochondrial inner membrane; IEA:UniProtKB-SubCell. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0015093 ferrous iron transmembrane transporter activity; IEA:Ensembl. # GO_process GO:0055072 iron ion homeostasis; IEA:UniProtKB-KW. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0042592 homeostatic process # Gene3D 1.50.40.10 -; 1. # Genevisible Q96A46 HS # HGNC HGNC:23472 SLC25A28 # InterPro IPR018108 Mitochondrial_sb/sol_carrier # InterPro IPR023395 Mt_carrier_dom # KEGG_Brite ko02001 Solute carrier family # MIM 609767 gene # Organism MFRN2_HUMAN Homo sapiens (Human) # PROSITE PS50920 SOLCAR; 3 # Pfam PF00153 Mito_carr; 3 # Proteomes UP000005640 Chromosome 10 # Reactome R-HSA-1362409 Mitochondrial iron-sulfur cluster biogenesis # RecName MFRN2_HUMAN Mitoferrin-2 # RefSeq NP_112489 NM_031212.3. [Q96A46-1] # SEQUENCE CAUTION Sequence=AAH47312.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAI16900.1; Type=Erroneous gene model prediction; Evidence={ECO 0000305}; # SIMILARITY Belongs to the mitochondrial carrier (TC 2.A.29) family. {ECO 0000305}. # SIMILARITY Contains 3 Solcar repeats. {ECO:0000255|PROSITE- ProRule PRU00282}. # SUBCELLULAR LOCATION MFRN2_HUMAN Mitochondrion inner membrane {ECO 0000269|PubMed 11297739}; Multi-pass membrane protein {ECO 0000269|PubMed 11297739}. Note=Isoform 1 and isoform 2 are both localized in the mitochondrion. # SUPFAM SSF103506 SSF103506 # TCDB 2.A.29.5 the mitochondrial carrier (mc) family # TISSUE SPECIFICITY Ubiquitous. Expressed in placenta, lung, kidney, pancreas, liver, brain, skeletal muscle and heart. {ECO:0000269|PubMed 11297739}. # UCSC uc001kpx human. [Q96A46-1] # eggNOG ENOG410XNT2 LUCA # eggNOG KOG0760 Eukaryota BLAST swissprot:MFRN2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:MFRN2_HUMAN BioCyc ZFISH:ENSG00000155287-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000155287-MONOMER COXPRESdb 81894 http://coxpresdb.jp/data/gene/81894.shtml CleanEx HS_SLC25A28 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC25A28 DOI 10.1016/S0014-5793(01)02319-5 http://dx.doi.org/10.1016/S0014-5793(01)02319-5 DOI 10.1038/nature02462 http://dx.doi.org/10.1038/nature02462 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 EMBL AF267854 http://www.ebi.ac.uk/ena/data/view/AF267854 EMBL AF327402 http://www.ebi.ac.uk/ena/data/view/AF327402 EMBL AF327403 http://www.ebi.ac.uk/ena/data/view/AF327403 EMBL AJ303077 http://www.ebi.ac.uk/ena/data/view/AJ303077 EMBL AJ303078 http://www.ebi.ac.uk/ena/data/view/AJ303078 EMBL AL353719 http://www.ebi.ac.uk/ena/data/view/AL353719 EMBL AL353719 http://www.ebi.ac.uk/ena/data/view/AL353719 EMBL AL831943 http://www.ebi.ac.uk/ena/data/view/AL831943 EMBL BC047312 http://www.ebi.ac.uk/ena/data/view/BC047312 EMBL BC058937 http://www.ebi.ac.uk/ena/data/view/BC058937 EMBL BC076399 http://www.ebi.ac.uk/ena/data/view/BC076399 EMBL BC094821 http://www.ebi.ac.uk/ena/data/view/BC094821 Ensembl ENST00000370495 http://www.ensembl.org/id/ENST00000370495 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0015093 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015093 GO_process GO:0055072 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055072 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 Gene3D 1.50.40.10 http://www.cathdb.info/version/latest/superfamily/1.50.40.10 GeneCards SLC25A28 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC25A28 GeneID 81894 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=81894 GeneTree ENSGT00550000074721 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074721 H-InvDB HIX0009111 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0009111 HGNC HGNC:23472 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:23472 HOGENOM HOG000038810 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000038810&db=HOGENOM6 HOVERGEN HBG079464 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG079464&db=HOVERGEN InParanoid Q96A46 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q96A46 InterPro IPR018108 http://www.ebi.ac.uk/interpro/entry/IPR018108 InterPro IPR023395 http://www.ebi.ac.uk/interpro/entry/IPR023395 Jabion 81894 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=81894 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:81894 http://www.genome.jp/dbget-bin/www_bget?hsa:81894 KEGG_Orthology KO:K15113 http://www.genome.jp/dbget-bin/www_bget?KO:K15113 MIM 609767 http://www.ncbi.nlm.nih.gov/omim/609767 OMA PMRGLNI http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=PMRGLNI OrthoDB EOG091G0PU8 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0PU8 PROSITE PS50920 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50920 PSORT swissprot:MFRN2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:MFRN2_HUMAN PSORT-B swissprot:MFRN2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:MFRN2_HUMAN PSORT2 swissprot:MFRN2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:MFRN2_HUMAN Pfam PF00153 http://pfam.xfam.org/family/PF00153 PharmGKB PA134867966 http://www.pharmgkb.org/do/serve?objId=PA134867966&objCls=Gene Phobius swissprot:MFRN2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:MFRN2_HUMAN PhylomeDB Q96A46 http://phylomedb.org/?seqid=Q96A46 ProteinModelPortal Q96A46 http://www.proteinmodelportal.org/query/uniprot/Q96A46 PubMed 11297739 http://www.ncbi.nlm.nih.gov/pubmed/11297739 PubMed 15164054 http://www.ncbi.nlm.nih.gov/pubmed/15164054 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 Reactome R-HSA-1362409 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1362409 RefSeq NP_112489 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_112489 SMR Q96A46 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q96A46 STRING 9606.ENSP00000359526 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000359526&targetmode=cogs SUPFAM SSF103506 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103506 TCDB 2.A.29.5 http://www.tcdb.org/search/result.php?tc=2.A.29.5 UCSC uc001kpx http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001kpx&org=rat UniGene Hs.403790 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.403790 UniGene Hs.736801 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.736801 UniProtKB MFRN2_HUMAN http://www.uniprot.org/uniprot/MFRN2_HUMAN UniProtKB-AC Q96A46 http://www.uniprot.org/uniprot/Q96A46 charge swissprot:MFRN2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:MFRN2_HUMAN eggNOG ENOG410XNT2 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XNT2 eggNOG KOG0760 http://eggnogapi.embl.de/nog_data/html/tree/KOG0760 epestfind swissprot:MFRN2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:MFRN2_HUMAN garnier swissprot:MFRN2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:MFRN2_HUMAN helixturnhelix swissprot:MFRN2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:MFRN2_HUMAN hmoment swissprot:MFRN2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:MFRN2_HUMAN iep swissprot:MFRN2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:MFRN2_HUMAN inforesidue swissprot:MFRN2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:MFRN2_HUMAN neXtProt NX_Q96A46 http://www.nextprot.org/db/entry/NX_Q96A46 octanol swissprot:MFRN2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:MFRN2_HUMAN pepcoil swissprot:MFRN2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:MFRN2_HUMAN pepdigest swissprot:MFRN2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:MFRN2_HUMAN pepinfo swissprot:MFRN2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:MFRN2_HUMAN pepnet swissprot:MFRN2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:MFRN2_HUMAN pepstats swissprot:MFRN2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:MFRN2_HUMAN pepwheel swissprot:MFRN2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:MFRN2_HUMAN pepwindow swissprot:MFRN2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:MFRN2_HUMAN sigcleave swissprot:MFRN2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:MFRN2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS ABCA3_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q99758-1; Sequence=Displayed; Name=2; IsoId=Q99758-2; Sequence=VSP_056262, VSP_056263; Note=No experimental confirmation available.; # AltName ABCA3_HUMAN ABC-C transporter # AltName ABCA3_HUMAN ATP-binding cassette transporter 3 # BioGrid 106539 25 # CCDS CCDS10466 -. [Q99758-1] # ChiTaRS ABCA3 human # DISEASE ABCA3_HUMAN Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM 610921] A rare lung disorder due to impaired surfactant homeostasis. It is characterized by alveolar filling with floccular material that stains positive using the periodic acid- Schiff method and is derived from surfactant phospholipids and protein components. Excessive lipoproteins accumulation in the alveoli results in severe respiratory distress. {ECO 0000269|PubMed 15044640}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DOMAIN ABCA3_HUMAN Multifunctional polypeptide with two homologous halves, each containing a hydrophobic membrane-anchoring domain and an ATP binding cassette (ABC) domain. {ECO 0000250}. # DrugBank DB00619 Imatinib # Ensembl ENST00000301732 ENSP00000301732; ENSG00000167972. [Q99758-1] # Ensembl ENST00000567910 ENSP00000454397; ENSG00000167972. [Q99758-2] # ExpressionAtlas Q99758 baseline and differential # FUNCTION ABCA3_HUMAN Plays an important role in the formation of pulmonary surfactant, probably by transporting lipids such as cholesterol. # GO_component GO:0005615 extracellular space; IDA:UniProtKB. # GO_component GO:0005886 plasma membrane; IDA:MGI. # GO_component GO:0016020 membrane; TAS:ProtInc. # GO_component GO:0016021 integral component of membrane; TAS:ProtInc. # GO_component GO:0097208 alveolar lamellar body; IDA:MGI. # GO_component GO:0097232 lamellar body membrane; TAS:Reactome. # GO_component GO:0097233 alveolar lamellar body membrane; IEA:Ensembl. # GO_function GO:0005215 transporter activity; TAS:ProtInc. # GO_function GO:0005319 lipid transporter activity; TAS:Reactome. # GO_function GO:0005524 ATP binding; TAS:ProtInc. # GO_function GO:0042626 ATPase activity, coupled to transmembrane movement of substances; TAS:ProtInc. # GO_process GO:0006810 transport; IDA:MGI. # GO_process GO:0006869 lipid transport; IBA:GO_Central. # GO_process GO:0042493 response to drug; TAS:ProtInc. # GO_process GO:0044267 cellular protein metabolic process; TAS:Reactome. # GO_process GO:0051384 response to glucocorticoid; IEA:Ensembl. # GO_process GO:0055085 transmembrane transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005615 extracellular space # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0031410 cytoplasmic vesicle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0055085 transmembrane transport # Gene3D 3.40.50.300 -; 2. # Genevisible Q99758 HS # HGNC HGNC:33 ABCA3 # IntAct Q99758 2 # InterPro IPR003439 ABC_transporter-like # InterPro IPR003593 AAA+_ATPase # InterPro IPR017871 ABC_transporter_CS # InterPro IPR026082 ABC_A # InterPro IPR026969 ABCA3 # InterPro IPR027417 P-loop_NTPase # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02000 Transporters # KEGG_Disease H00217 [Inherited metabolic disease; Respiratory disease] Pulmonary surfactant metabolism dysfunction (SMDP) # KEGG_Pathway ko02010 ABC transporters # MIM 601615 gene # MIM 610921 phenotype # Organism ABCA3_HUMAN Homo sapiens (Human) # Orphanet 217563 Neonatal acute respiratory distress with surfactant metabolism deficiency # Orphanet 264675 Congenital pulmonary alveolar proteinosis # PANTHER PTHR19229 PTHR19229 # PANTHER PTHR19229:SF98 PTHR19229:SF98 # PIR A59188 A59188 # PIR S71363 S71363 # PROSITE PS00211 ABC_TRANSPORTER_1 # PROSITE PS50893 ABC_TRANSPORTER_2; 2 # Pfam PF00005 ABC_tran; 2 # Proteomes UP000005640 Chromosome 16 # Reactome R-HSA-1369062 ABC transporters in lipid homeostasis # Reactome R-HSA-5683826 Surfactant metabolism # RecName ABCA3_HUMAN ATP-binding cassette sub-family A member 3 # RefSeq NP_001080 NM_001089.2. [Q99758-1] # SIMILARITY Belongs to the ABC transporter superfamily. ABCA family. {ECO 0000305}. # SIMILARITY Contains 2 ABC transporter domains. {ECO:0000255|PROSITE-ProRule PRU00434}. # SMART SM00382 AAA; 2 # SUBCELLULAR LOCATION ABCA3_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # SUPFAM SSF52540 SSF52540; 2 # TCDB 3.A.1.211 the atp-binding cassette (abc) superfamily # TISSUE SPECIFICITY ABCA3_HUMAN Highly expressed in lung, followed by brain, pancreas, skeletal muscle and heart. Weakly expressed in placenta, kidney and liver. Also expressed in medullary thyroid carcinoma cells (MTC) and in C-cell carcinoma. # UCSC uc002cpy human. [Q99758-1] # WEB RESOURCE ABCA3_HUMAN Name=ABCMdb; Note=Database for mutations in ABC proteins; URL="http //abcmutations.hegelab.org/proteinDetails?uniprot_id=Q99758"; # WEB RESOURCE ABCA3_HUMAN Name=SeattleSNPs; URL="http //pga.gs.washington.edu/data/abca3/"; # eggNOG COG1131 LUCA # eggNOG KOG0059 Eukaryota BLAST swissprot:ABCA3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ABCA3_HUMAN BioCyc ZFISH:ENSG00000167972-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000167972-MONOMER COXPRESdb 21 http://coxpresdb.jp/data/gene/21.shtml CleanEx HS_ABCA3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ABCA3 DOI 10.1006/geno.1996.4500 http://dx.doi.org/10.1006/geno.1996.4500 DOI 10.1016/0014-5793(96)00700-4 http://dx.doi.org/10.1016/0014-5793(96)00700-4 DOI 10.1016/S0014-5793(01)03056-3 http://dx.doi.org/10.1016/S0014-5793(01)03056-3 DOI 10.1038/nature03187 http://dx.doi.org/10.1038/nature03187 DOI 10.1056/NEJMoa032178 http://dx.doi.org/10.1056/NEJMoa032178 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1133427 http://dx.doi.org/10.1126/science.1133427 DrugBank DB00619 http://www.drugbank.ca/drugs/DB00619 EMBL AB070929 http://www.ebi.ac.uk/ena/data/view/AB070929 EMBL AC009065 http://www.ebi.ac.uk/ena/data/view/AC009065 EMBL AC098805 http://www.ebi.ac.uk/ena/data/view/AC098805 EMBL AC106820 http://www.ebi.ac.uk/ena/data/view/AC106820 EMBL BC020724 http://www.ebi.ac.uk/ena/data/view/BC020724 EMBL BC062779 http://www.ebi.ac.uk/ena/data/view/BC062779 EMBL BC140895 http://www.ebi.ac.uk/ena/data/view/BC140895 EMBL BC146866 http://www.ebi.ac.uk/ena/data/view/BC146866 EMBL CH471112 http://www.ebi.ac.uk/ena/data/view/CH471112 EMBL DQ073080 http://www.ebi.ac.uk/ena/data/view/DQ073080 EMBL U78735 http://www.ebi.ac.uk/ena/data/view/U78735 EMBL X97187 http://www.ebi.ac.uk/ena/data/view/X97187 Ensembl ENST00000301732 http://www.ensembl.org/id/ENST00000301732 Ensembl ENST00000567910 http://www.ensembl.org/id/ENST00000567910 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005615 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005615 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0097208 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097208 GO_component GO:0097232 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097232 GO_component GO:0097233 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097233 GO_function GO:0005215 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005215 GO_function GO:0005319 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005319 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0042626 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042626 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0006869 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006869 GO_process GO:0042493 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042493 GO_process GO:0044267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044267 GO_process GO:0051384 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051384 GO_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005615 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005615 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0031410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 3.40.50.300 http://www.cathdb.info/version/latest/superfamily/3.40.50.300 GeneCards ABCA3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ABCA3 GeneID 21 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=21 GeneTree ENSGT00760000118965 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118965 HGNC HGNC:33 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:33 HOGENOM HOG000006613 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000006613&db=HOGENOM6 HOVERGEN HBG050435 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050435&db=HOVERGEN HPA HPA007884 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA007884 InParanoid Q99758 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q99758 IntAct Q99758 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q99758* InterPro IPR003439 http://www.ebi.ac.uk/interpro/entry/IPR003439 InterPro IPR003593 http://www.ebi.ac.uk/interpro/entry/IPR003593 InterPro IPR017871 http://www.ebi.ac.uk/interpro/entry/IPR017871 InterPro IPR026082 http://www.ebi.ac.uk/interpro/entry/IPR026082 InterPro IPR026969 http://www.ebi.ac.uk/interpro/entry/IPR026969 InterPro IPR027417 http://www.ebi.ac.uk/interpro/entry/IPR027417 Jabion 21 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=21 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Disease H00217 http://www.genome.jp/dbget-bin/www_bget?H00217 KEGG_Gene hsa:21 http://www.genome.jp/dbget-bin/www_bget?hsa:21 KEGG_Orthology KO:K05643 http://www.genome.jp/dbget-bin/www_bget?KO:K05643 KEGG_Pathway ko02010 http://www.genome.jp/kegg-bin/show_pathway?ko02010 MIM 601615 http://www.ncbi.nlm.nih.gov/omim/601615 MIM 610921 http://www.ncbi.nlm.nih.gov/omim/610921 MINT MINT-6943242 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-6943242 OMA DWAVDSS http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=DWAVDSS Orphanet 217563 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=217563 Orphanet 264675 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=264675 OrthoDB EOG091G009X http://cegg.unige.ch/orthodb/results?searchtext=EOG091G009X PANTHER PTHR19229 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR19229 PANTHER PTHR19229:SF98 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR19229:SF98 PROSITE PS00211 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00211 PROSITE PS50893 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50893 PSORT swissprot:ABCA3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ABCA3_HUMAN PSORT-B swissprot:ABCA3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ABCA3_HUMAN PSORT2 swissprot:ABCA3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ABCA3_HUMAN Pfam PF00005 http://pfam.xfam.org/family/PF00005 PharmGKB PA24378 http://www.pharmgkb.org/do/serve?objId=PA24378&objCls=Gene Phobius swissprot:ABCA3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ABCA3_HUMAN PhylomeDB Q99758 http://phylomedb.org/?seqid=Q99758 ProteinModelPortal Q99758 http://www.proteinmodelportal.org/query/uniprot/Q99758 PubMed 11718719 http://www.ncbi.nlm.nih.gov/pubmed/11718719 PubMed 15044640 http://www.ncbi.nlm.nih.gov/pubmed/15044640 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15616553 http://www.ncbi.nlm.nih.gov/pubmed/15616553 PubMed 16959974 http://www.ncbi.nlm.nih.gov/pubmed/16959974 PubMed 8706931 http://www.ncbi.nlm.nih.gov/pubmed/8706931 PubMed 9027511 http://www.ncbi.nlm.nih.gov/pubmed/9027511 Reactome R-HSA-1369062 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1369062 Reactome R-HSA-5683826 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5683826 RefSeq NP_001080 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001080 SMART SM00382 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00382 SMR Q99758 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q99758 STRING 9606.ENSP00000301732 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000301732&targetmode=cogs SUPFAM SSF52540 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52540 TCDB 3.A.1.211 http://www.tcdb.org/search/result.php?tc=3.A.1.211 UCSC uc002cpy http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002cpy&org=rat UniGene Hs.26630 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.26630 UniProtKB ABCA3_HUMAN http://www.uniprot.org/uniprot/ABCA3_HUMAN UniProtKB-AC Q99758 http://www.uniprot.org/uniprot/Q99758 charge swissprot:ABCA3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ABCA3_HUMAN eggNOG COG1131 http://eggnogapi.embl.de/nog_data/html/tree/COG1131 eggNOG KOG0059 http://eggnogapi.embl.de/nog_data/html/tree/KOG0059 epestfind swissprot:ABCA3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ABCA3_HUMAN garnier swissprot:ABCA3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ABCA3_HUMAN helixturnhelix swissprot:ABCA3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ABCA3_HUMAN hmoment swissprot:ABCA3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ABCA3_HUMAN iep swissprot:ABCA3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ABCA3_HUMAN inforesidue swissprot:ABCA3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ABCA3_HUMAN neXtProt NX_Q99758 http://www.nextprot.org/db/entry/NX_Q99758 octanol swissprot:ABCA3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ABCA3_HUMAN pepcoil swissprot:ABCA3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ABCA3_HUMAN pepdigest swissprot:ABCA3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ABCA3_HUMAN pepinfo swissprot:ABCA3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ABCA3_HUMAN pepnet swissprot:ABCA3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ABCA3_HUMAN pepstats swissprot:ABCA3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ABCA3_HUMAN pepwheel swissprot:ABCA3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ABCA3_HUMAN pepwindow swissprot:ABCA3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ABCA3_HUMAN sigcleave swissprot:ABCA3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ABCA3_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S36A3_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q495N2-1; Sequence=Displayed; Name=2; IsoId=Q495N2-2; Sequence=VSP_032601, VSP_032602; Note=No experimental confirmation available.; Name=3; IsoId=Q495N2-3; Sequence=VSP_032602; # AltName S36A3_HUMAN Solute carrier family 36 member 3 # AltName S36A3_HUMAN Tramdorin-2 # CCDS CCDS4314 -. [Q495N2-1] # CCDS CCDS47316 -. [Q495N2-3] # Ensembl ENST00000335230 ENSP00000334750; ENSG00000186334. [Q495N2-1] # Ensembl ENST00000377713 ENSP00000366942; ENSG00000186334. [Q495N2-3] # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0015078 hydrogen ion transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015180 L-alanine transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015187 glycine transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015193 L-proline transmembrane transporter activity; IBA:GO_Central. # GO_function S36A3_HUMAN GO 0005280 hydrogen amino acid symporter activity; IBA GO_Central. # GO_process GO:0015816 glycine transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # HGNC HGNC:19659 SLC36A3 # InterPro IPR013057 AA_transpt_TM # KEGG_Brite ko02001 Solute carrier family # MIM 608332 gene # Organism S36A3_HUMAN Homo sapiens (Human) # PTM S36A3_HUMAN Isoform 3 is phosphorylated on Tyr-175. # Pfam PF01490 Aa_trans # Proteomes UP000005640 Chromosome 5 # RecName S36A3_HUMAN Proton-coupled amino acid transporter 3 # RefSeq NP_001138489 NM_001145017.1. [Q495N2-3] # RefSeq NP_861439 NM_181774.3. [Q495N2-1] # SIMILARITY Belongs to the amino acid/polyamine transporter 2 family. {ECO 0000305}. # SUBCELLULAR LOCATION S36A3_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # TCDB 2.A.18.8 the amino acid/auxin permease (aaap) family # TISSUE SPECIFICITY Specifically expressed in testis. {ECO:0000269|PubMed 15058382}. # UCSC uc003ltw human. [Q495N2-1] BLAST swissprot:S36A3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S36A3_HUMAN BioCyc ZFISH:G66-31592-MONOMER http://biocyc.org/getid?id=ZFISH:G66-31592-MONOMER COXPRESdb 285641 http://coxpresdb.jp/data/gene/285641.shtml CleanEx HS_SLC36A3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC36A3 DOI 10.1007/s00335-003-2319-3 http://dx.doi.org/10.1007/s00335-003-2319-3 DOI 10.1016/S0888-7543(03)00099-5 http://dx.doi.org/10.1016/S0888-7543(03)00099-5 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AK127978 http://www.ebi.ac.uk/ena/data/view/AK127978 EMBL AK131483 http://www.ebi.ac.uk/ena/data/view/AK131483 EMBL AY162215 http://www.ebi.ac.uk/ena/data/view/AY162215 EMBL BC101092 http://www.ebi.ac.uk/ena/data/view/BC101092 EMBL BC101093 http://www.ebi.ac.uk/ena/data/view/BC101093 EMBL BC101094 http://www.ebi.ac.uk/ena/data/view/BC101094 EMBL BC101095 http://www.ebi.ac.uk/ena/data/view/BC101095 EMBL CH471062 http://www.ebi.ac.uk/ena/data/view/CH471062 Ensembl ENST00000335230 http://www.ensembl.org/id/ENST00000335230 Ensembl ENST00000377713 http://www.ensembl.org/id/ENST00000377713 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005280 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005280 GO_function GO:0015078 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015078 GO_function GO:0015180 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015180 GO_function GO:0015187 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015187 GO_function GO:0015193 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015193 GO_process GO:0015816 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015816 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GeneCards SLC36A3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC36A3 GeneID 285641 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=285641 GeneTree ENSGT00390000011245 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000011245 HGNC HGNC:19659 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:19659 HOGENOM HOG000006823 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000006823&db=HOGENOM6 HOVERGEN HBG057183 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG057183&db=HOVERGEN InParanoid Q495N2 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q495N2 InterPro IPR013057 http://www.ebi.ac.uk/interpro/entry/IPR013057 Jabion 285641 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=285641 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:285641 http://www.genome.jp/dbget-bin/www_bget?hsa:285641 KEGG_Orthology KO:K14209 http://www.genome.jp/dbget-bin/www_bget?KO:K14209 MIM 608332 http://www.ncbi.nlm.nih.gov/omim/608332 OMA AMMYSLE http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=AMMYSLE OrthoDB EOG091G079T http://cegg.unige.ch/orthodb/results?searchtext=EOG091G079T PSORT swissprot:S36A3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S36A3_HUMAN PSORT-B swissprot:S36A3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S36A3_HUMAN PSORT2 swissprot:S36A3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S36A3_HUMAN Pfam PF01490 http://pfam.xfam.org/family/PF01490 PharmGKB PA134875494 http://www.pharmgkb.org/do/serve?objId=PA134875494&objCls=Gene Phobius swissprot:S36A3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S36A3_HUMAN PhylomeDB Q495N2 http://phylomedb.org/?seqid=Q495N2 ProteinModelPortal Q495N2 http://www.proteinmodelportal.org/query/uniprot/Q495N2 PubMed 12809675 http://www.ncbi.nlm.nih.gov/pubmed/12809675 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15058382 http://www.ncbi.nlm.nih.gov/pubmed/15058382 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 RefSeq NP_001138489 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001138489 RefSeq NP_861439 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_861439 TCDB 2.A.18.8 http://www.tcdb.org/search/result.php?tc=2.A.18.8 UCSC uc003ltw http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003ltw&org=rat UniGene Hs.720893 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.720893 UniProtKB S36A3_HUMAN http://www.uniprot.org/uniprot/S36A3_HUMAN UniProtKB-AC Q495N2 http://www.uniprot.org/uniprot/Q495N2 charge swissprot:S36A3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S36A3_HUMAN epestfind swissprot:S36A3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S36A3_HUMAN garnier swissprot:S36A3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S36A3_HUMAN helixturnhelix swissprot:S36A3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S36A3_HUMAN hmoment swissprot:S36A3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S36A3_HUMAN iep swissprot:S36A3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S36A3_HUMAN inforesidue swissprot:S36A3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S36A3_HUMAN neXtProt NX_Q495N2 http://www.nextprot.org/db/entry/NX_Q495N2 octanol swissprot:S36A3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S36A3_HUMAN pepcoil swissprot:S36A3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S36A3_HUMAN pepdigest swissprot:S36A3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S36A3_HUMAN pepinfo swissprot:S36A3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S36A3_HUMAN pepnet swissprot:S36A3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S36A3_HUMAN pepstats swissprot:S36A3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S36A3_HUMAN pepwheel swissprot:S36A3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S36A3_HUMAN pepwindow swissprot:S36A3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S36A3_HUMAN sigcleave swissprot:S36A3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S36A3_HUMAN ## Database ID URL or Descriptions # AltName CCG1_HUMAN Dihydropyridine-sensitive L-type, skeletal muscle calcium channel subunit gamma # DrugBank DB00308 Ibutilide # DrugBank DB00343 Diltiazem # DrugBank DB00421 Spironolactone # DrugBank DB00528 Lercanidipine # DrugBank DB00653 Magnesium Sulfate # DrugBank DB00898 Ethanol # DrugBank DB01054 Nitrendipine # DrugBank DB04842 Fluspirilene # Ensembl ENST00000226021 ENSP00000226021; ENSG00000108878 # FUNCTION CCG1_HUMAN This protein is a subunit of the dihydropyridine (DHP) sensitive calcium channel. Plays a role in excitation-contraction coupling. The skeletal muscle DHP-sensitive Ca(2+) channel may function only as a multiple subunit complex. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005891 voltage-gated calcium channel complex; TAS:ProtInc. # GO_function GO:0005245 voltage-gated calcium channel activity; TAS:ProtInc. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0006936 muscle contraction; TAS:ProtInc. # GO_process GO:0061337 cardiac conduction; TAS:Reactome. # GO_process GO:0070296 sarcoplasmic reticulum calcium ion transport; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # Genevisible Q06432 HS # HGNC HGNC:1405 CACNG1 # INTERACTION CCG1_HUMAN A8KA83 -; NbExp=3; IntAct=EBI-9686780, EBI-10174961; # IntAct Q06432 2 # InterPro IPR004031 PMP22/EMP/MP20/Claudin # InterPro IPR005421 VDCC_g1su # InterPro IPR008368 VDCC_gsu # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04010 MAPK signaling pathway # KEGG_Pathway ko04260 Cardiac muscle contraction # KEGG_Pathway ko05410 Hypertrophic cardiomyopathy (HCM) # KEGG_Pathway ko05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC) # KEGG_Pathway ko05414 Dilated cardiomyopathy # MIM 114209 gene # Organism CCG1_HUMAN Homo sapiens (Human) # PIR A46658 A46658 # PRINTS PR01601 VDCCGAMMA1 # PRINTS PR01792 VDCCGAMMA # Pfam PF13903 Claudin_2 # Proteomes UP000005640 Chromosome 17 # Reactome R-HSA-5576892 Phase 0 - rapid depolarisation # Reactome R-HSA-5576893 Phase 2 - plateau phase # Reactome R-HSA-5576894 Phase 1 - inactivation of fast Na+ channels # RecName CCG1_HUMAN Voltage-dependent calcium channel gamma-1 subunit # RefSeq NP_000718 NM_000727.3 # SIMILARITY Belongs to the PMP-22/EMP/MP20 family. CACNG subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION CCG1_HUMAN Membrane; Multi-pass membrane protein. # SUBUNIT The L-type calcium channel is composed of five subunits alpha-1, alpha-2/delta, beta and gamma. # TCDB 8.A.16.1 the ca(+) channel auxiliary subunit Gama1-Gama8 (ccaGama) family # TISSUE SPECIFICITY CCG1_HUMAN Skeletal muscle. # UCSC uc002jfu human # eggNOG ENOG410IH0I Eukaryota # eggNOG ENOG4111J5G LUCA BLAST swissprot:CCG1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CCG1_HUMAN BioCyc ZFISH:ENSG00000108878-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000108878-MONOMER COXPRESdb 786 http://coxpresdb.jp/data/gene/786.shtml CleanEx HS_CACNG1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CACNG1 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DrugBank DB00308 http://www.drugbank.ca/drugs/DB00308 DrugBank DB00343 http://www.drugbank.ca/drugs/DB00343 DrugBank DB00421 http://www.drugbank.ca/drugs/DB00421 DrugBank DB00528 http://www.drugbank.ca/drugs/DB00528 DrugBank DB00653 http://www.drugbank.ca/drugs/DB00653 DrugBank DB00898 http://www.drugbank.ca/drugs/DB00898 DrugBank DB01054 http://www.drugbank.ca/drugs/DB01054 DrugBank DB04842 http://www.drugbank.ca/drugs/DB04842 EMBL AK313852 http://www.ebi.ac.uk/ena/data/view/AK313852 EMBL BC069493 http://www.ebi.ac.uk/ena/data/view/BC069493 EMBL BC113486 http://www.ebi.ac.uk/ena/data/view/BC113486 EMBL BC113492 http://www.ebi.ac.uk/ena/data/view/BC113492 EMBL CH471099 http://www.ebi.ac.uk/ena/data/view/CH471099 EMBL L07738 http://www.ebi.ac.uk/ena/data/view/L07738 EMBL Z19587 http://www.ebi.ac.uk/ena/data/view/Z19587 EMBL Z19603 http://www.ebi.ac.uk/ena/data/view/Z19603 Ensembl ENST00000226021 http://www.ensembl.org/id/ENST00000226021 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005891 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005891 GO_function GO:0005245 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005245 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0006936 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006936 GO_process GO:0061337 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061337 GO_process GO:0070296 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070296 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GeneCards CACNG1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CACNG1 GeneID 786 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=786 GeneTree ENSGT00390000007786 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000007786 HGNC HGNC:1405 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:1405 HOGENOM HOG000293219 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000293219&db=HOGENOM6 HOVERGEN HBG003868 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG003868&db=HOVERGEN HPA CAB016200 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB016200 HPA CAB021109 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB021109 HPA CAB047350 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB047350 InParanoid Q06432 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q06432 IntAct Q06432 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q06432* InterPro IPR004031 http://www.ebi.ac.uk/interpro/entry/IPR004031 InterPro IPR005421 http://www.ebi.ac.uk/interpro/entry/IPR005421 InterPro IPR008368 http://www.ebi.ac.uk/interpro/entry/IPR008368 Jabion 786 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=786 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:786 http://www.genome.jp/dbget-bin/www_bget?hsa:786 KEGG_Orthology KO:K04866 http://www.genome.jp/dbget-bin/www_bget?KO:K04866 KEGG_Pathway ko04010 http://www.genome.jp/kegg-bin/show_pathway?ko04010 KEGG_Pathway ko04260 http://www.genome.jp/kegg-bin/show_pathway?ko04260 KEGG_Pathway ko05410 http://www.genome.jp/kegg-bin/show_pathway?ko05410 KEGG_Pathway ko05412 http://www.genome.jp/kegg-bin/show_pathway?ko05412 KEGG_Pathway ko05414 http://www.genome.jp/kegg-bin/show_pathway?ko05414 MIM 114209 http://www.ncbi.nlm.nih.gov/omim/114209 OMA LKPASMF http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=LKPASMF OrthoDB EOG091G0IU0 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0IU0 PRINTS PR01601 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01601 PRINTS PR01792 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01792 PSORT swissprot:CCG1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CCG1_HUMAN PSORT-B swissprot:CCG1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CCG1_HUMAN PSORT2 swissprot:CCG1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CCG1_HUMAN Pfam PF13903 http://pfam.xfam.org/family/PF13903 PharmGKB PA26015 http://www.pharmgkb.org/do/serve?objId=PA26015&objCls=Gene Phobius swissprot:CCG1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CCG1_HUMAN PhylomeDB Q06432 http://phylomedb.org/?seqid=Q06432 ProteinModelPortal Q06432 http://www.proteinmodelportal.org/query/uniprot/Q06432 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 8387489 http://www.ncbi.nlm.nih.gov/pubmed/8387489 PubMed 8404045 http://www.ncbi.nlm.nih.gov/pubmed/8404045 Reactome R-HSA-5576892 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576892 Reactome R-HSA-5576893 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576893 Reactome R-HSA-5576894 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576894 RefSeq NP_000718 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000718 STRING 9606.ENSP00000226021 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000226021&targetmode=cogs TCDB 8.A.16.1 http://www.tcdb.org/search/result.php?tc=8.A.16.1 UCSC uc002jfu http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002jfu&org=rat UniGene Hs.147989 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.147989 UniProtKB CCG1_HUMAN http://www.uniprot.org/uniprot/CCG1_HUMAN UniProtKB-AC Q06432 http://www.uniprot.org/uniprot/Q06432 charge swissprot:CCG1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CCG1_HUMAN eggNOG ENOG410IH0I http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IH0I eggNOG ENOG4111J5G http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111J5G epestfind swissprot:CCG1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CCG1_HUMAN garnier swissprot:CCG1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CCG1_HUMAN helixturnhelix swissprot:CCG1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CCG1_HUMAN hmoment swissprot:CCG1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CCG1_HUMAN iep swissprot:CCG1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CCG1_HUMAN inforesidue swissprot:CCG1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CCG1_HUMAN neXtProt NX_Q06432 http://www.nextprot.org/db/entry/NX_Q06432 octanol swissprot:CCG1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CCG1_HUMAN pepcoil swissprot:CCG1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CCG1_HUMAN pepdigest swissprot:CCG1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CCG1_HUMAN pepinfo swissprot:CCG1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CCG1_HUMAN pepnet swissprot:CCG1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CCG1_HUMAN pepstats swissprot:CCG1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CCG1_HUMAN pepwheel swissprot:CCG1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CCG1_HUMAN pepwindow swissprot:CCG1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CCG1_HUMAN sigcleave swissprot:CCG1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CCG1_HUMAN ## Database ID URL or Descriptions # BioGrid 115338 3 # DISEASE HCN4_HUMAN Brugada syndrome 8 (BRGDA8) [MIM 613123] A tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset. {ECO 0000269|PubMed 19165230}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE HCN4_HUMAN Sick sinus syndrome 2 (SSS2) [MIM 163800] The term 'sick sinus syndrome' encompasses a variety of conditions caused by sinus node dysfunction. The most common clinical manifestations are syncope, presyncope, dizziness, and fatigue. Electrocardiogram typically shows sinus bradycardia, sinus arrest, and/or sinoatrial block. Episodes of atrial tachycardias coexisting with sinus bradycardia ('tachycardia-bradycardia syndrome') are also common in this disorder. SSS occurs most often in the elderly associated with underlying heart disease or previous cardiac surgery, but can also occur in the fetus, infant, or child without heart disease or other contributing factors. SSS2 onset is in utero or at birth. {ECO 0000269|PubMed 15123648, ECO 0000269|PubMed 16407510, ECO 0000269|PubMed 20662977}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DOMAIN HCN4_HUMAN The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position. # ENZYME REGULATION HCN4_HUMAN Activated by cAMP. cAMP binding causes a conformation change that leads to the assembly of an active tetramer and channel opening. {ECO 0000269|PubMed 16407510, ECO 0000269|PubMed 20829353, ECO 0000269|PubMed 22006928}. # Ensembl ENST00000261917 ENSP00000261917; ENSG00000138622 # FUNCTION HCN4_HUMAN Hyperpolarization-activated ion channel with very slow activation and inactivation exhibiting weak selectivity for potassium over sodium ions. Contributes to the native pacemaker currents in heart (If) that regulate the rhythm of heart beat. May contribute to the native pacemaker currents in neurons (Ih). May mediate responses to sour stimuli. {ECO 0000269|PubMed 10228147, ECO 0000269|PubMed 10430953, ECO 0000269|PubMed 16407510, ECO 0000269|PubMed 19165230, ECO 0000269|PubMed 20829353}. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0031226 intrinsic component of plasma membrane; IDA:UniProtKB. # GO_component GO:0048471 perinuclear region of cytoplasm; IDA:BHF-UCL. # GO_function GO:0005222 intracellular cAMP activated cation channel activity; IDA:UniProtKB. # GO_function GO:0005248 voltage-gated sodium channel activity; IMP:UniProtKB. # GO_function GO:0005249 voltage-gated potassium channel activity; IDA:UniProtKB. # GO_function GO:0030552 cAMP binding; IEA:UniProtKB-KW. # GO_process GO:0002027 regulation of heart rate; IMP:UniProtKB. # GO_process GO:0003254 regulation of membrane depolarization; IDA:BHF-UCL. # GO_process GO:0006812 cation transport; IDA:BHF-UCL. # GO_process GO:0006936 muscle contraction; TAS:ProtInc. # GO_process GO:0008015 blood circulation; NAS:ProtInc. # GO_process GO:0035725 sodium ion transmembrane transport; IMP:UniProtKB. # GO_process GO:0042391 regulation of membrane potential; IMP:UniProtKB. # GO_process GO:0055117 regulation of cardiac muscle contraction; IMP:BHF-UCL. # GO_process GO:0071320 cellular response to cAMP; IDA:UniProtKB. # GO_process GO:0071321 cellular response to cGMP; IDA:UniProtKB. # GO_process GO:0071805 potassium ion transmembrane transport; IDA:UniProtKB. # GO_process GO:0086015 SA node cell action potential; IMP:BHF-UCL. # GO_process GO:0086091 regulation of heart rate by cardiac conduction; IMP:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0003013 circulatory system process # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0055085 transmembrane transport # Gene3D 2.60.120.10 -; 1. # Genevisible Q9Y3Q4 HS # HGNC HGNC:16882 HCN4 # INTERACTION HCN4_HUMAN Self; NbExp=2; IntAct=EBI-1753521, EBI-1753521; # IntAct Q9Y3Q4 2 # InterPro IPR000595 cNMP-bd_dom # InterPro IPR003938 K_chnl_volt-dep_EAG/ELK/ERG # InterPro IPR005821 Ion_trans_dom # InterPro IPR013621 Ion_trans_N # InterPro IPR014710 RmlC-like_jellyroll # InterPro IPR018488 cNMP-bd_CS # InterPro IPR018490 cNMP-bd-like # InterPro IPR030173 HCN4 # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00728 [Cardiovascular disease] Brugada syndrome (BRS) # KEGG_Disease H00729 [Cardiovascular disease] Sinus node dysfunction # MIM 163800 phenotype # MIM 605206 gene # MIM 613123 phenotype # MISCELLANEOUS HCN4_HUMAN Inhibited by extracellular cesium ions. # Organism HCN4_HUMAN Homo sapiens (Human) # Orphanet 130 Brugada syndrome # Orphanet 166282 Familial sick sinus syndrome # PANTHER PTHR10217:SF375 PTHR10217:SF375; 3 # PDB 2MNG NMR; -; A=579-707 # PDB 3OTF X-ray; 2.40 A; A=521-739 # PDB 3U11 X-ray; 2.50 A; A/B=521-723 # PDB 4HBN X-ray; 2.60 A; A=521-724 # PDB 4KL1 X-ray; 2.70 A; A/B/C/D=521-713 # PDB 4NVP X-ray; 2.50 A; A=521-723 # PRINTS PR01463 EAGCHANLFMLY # PROSITE PS00888 CNMP_BINDING_1 # PROSITE PS50042 CNMP_BINDING_3 # Pfam PF00027 cNMP_binding # Pfam PF00520 Ion_trans # Pfam PF08412 Ion_trans_N # Proteomes UP000005640 Chromosome 15 # Reactome R-HSA-1296061 HCN channels # RecName HCN4_HUMAN Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 4 # RefSeq NP_005468 NM_005477.2 # SIMILARITY Belongs to the potassium channel HCN family. {ECO 0000305}. # SIMILARITY Contains 1 cyclic nucleotide-binding domain. {ECO:0000255|PROSITE-ProRule PRU00060}. # SMART SM00100 cNMP # SUBCELLULAR LOCATION HCN4_HUMAN Cell membrane {ECO 0000269|PubMed 10228147, ECO 0000269|PubMed 10430953, ECO 0000269|PubMed 16407510}; Multi- pass membrane protein {ECO 0000269|PubMed 10228147, ECO 0000269|PubMed 10430953, ECO 0000269|PubMed 16407510}. # SUBUNIT HCN4_HUMAN Homotetramer. The potassium channel is composed of a homo- or heterotetrameric complex of pore-forming subunits. {ECO 0000269|PubMed 20829353, ECO 0000269|PubMed 22006928}. # SUPFAM SSF51206 SSF51206 # TCDB 1.A.1.5.10 the voltage-gated ion channel (vic) superfamily # TCDB 1.A.1.5.11 the voltage-gated ion channel (vic) superfamily # TISSUE SPECIFICITY HCN4_HUMAN Highly expressed in thalamus, testis and in heart, both in ventricle and atrium. Detected at much lower levels in amygdala, substantia nigra, cerebellum and hippocampus. {ECO 0000269|PubMed 10228147, ECO 0000269|PubMed 10430953}. # UCSC uc002avp human # eggNOG ENOG410XPSE LUCA # eggNOG KOG0498 Eukaryota BLAST swissprot:HCN4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:HCN4_HUMAN BioCyc ZFISH:ENSG00000138622-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000138622-MONOMER COXPRESdb 10021 http://coxpresdb.jp/data/gene/10021.shtml CleanEx HS_HCN4 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_HCN4 DIP DIP-52325N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-52325N DOI 10.1016/j.str.2012.09.017 http://dx.doi.org/10.1016/j.str.2012.09.017 DOI 10.1038/jhg.2008.16 http://dx.doi.org/10.1038/jhg.2008.16 DOI 10.1056/NEJMoa052475 http://dx.doi.org/10.1056/NEJMoa052475 DOI 10.1073/pnas.96.16.9391 http://dx.doi.org/10.1073/pnas.96.16.9391 DOI 10.1074/jbc.M110.152033 http://dx.doi.org/10.1074/jbc.M110.152033 DOI 10.1074/jbc.M111.297606 http://dx.doi.org/10.1074/jbc.M111.297606 DOI 10.1074/jbc.M311953200 http://dx.doi.org/10.1074/jbc.M311953200 DOI 10.1093/emboj/18.9.2323 http://dx.doi.org/10.1093/emboj/18.9.2323 DOI 10.1111/j.1540-8167.2010.01844.x http://dx.doi.org/10.1111/j.1540-8167.2010.01844.x EMBL AJ132429 http://www.ebi.ac.uk/ena/data/view/AJ132429 EMBL AJ238850 http://www.ebi.ac.uk/ena/data/view/AJ238850 Ensembl ENST00000261917 http://www.ensembl.org/id/ENST00000261917 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0031226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031226 GO_component GO:0048471 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048471 GO_function GO:0005222 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005222 GO_function GO:0005248 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005248 GO_function GO:0005249 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005249 GO_function GO:0030552 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030552 GO_process GO:0002027 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002027 GO_process GO:0003254 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003254 GO_process GO:0006812 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006812 GO_process GO:0006936 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006936 GO_process GO:0008015 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008015 GO_process GO:0035725 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035725 GO_process GO:0042391 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042391 GO_process GO:0055117 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055117 GO_process GO:0071320 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071320 GO_process GO:0071321 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071321 GO_process GO:0071805 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071805 GO_process GO:0086015 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086015 GO_process GO:0086091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086091 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0003013 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003013 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 2.60.120.10 http://www.cathdb.info/version/latest/superfamily/2.60.120.10 GeneCards HCN4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=HCN4 GeneID 10021 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=10021 GeneTree ENSGT00760000118772 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118772 HGNC HGNC:16882 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:16882 HOGENOM HOG000230717 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000230717&db=HOGENOM6 HOVERGEN HBG039490 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG039490&db=HOVERGEN HPA CAB026135 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB026135 InParanoid Q9Y3Q4 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9Y3Q4 IntAct Q9Y3Q4 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9Y3Q4* InterPro IPR000595 http://www.ebi.ac.uk/interpro/entry/IPR000595 InterPro IPR003938 http://www.ebi.ac.uk/interpro/entry/IPR003938 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR013621 http://www.ebi.ac.uk/interpro/entry/IPR013621 InterPro IPR014710 http://www.ebi.ac.uk/interpro/entry/IPR014710 InterPro IPR018488 http://www.ebi.ac.uk/interpro/entry/IPR018488 InterPro IPR018490 http://www.ebi.ac.uk/interpro/entry/IPR018490 InterPro IPR030173 http://www.ebi.ac.uk/interpro/entry/IPR030173 Jabion 10021 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=10021 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00728 http://www.genome.jp/dbget-bin/www_bget?H00728 KEGG_Disease H00729 http://www.genome.jp/dbget-bin/www_bget?H00729 KEGG_Gene hsa:10021 http://www.genome.jp/dbget-bin/www_bget?hsa:10021 KEGG_Orthology KO:K04957 http://www.genome.jp/dbget-bin/www_bget?KO:K04957 MIM 163800 http://www.ncbi.nlm.nih.gov/omim/163800 MIM 605206 http://www.ncbi.nlm.nih.gov/omim/605206 MIM 613123 http://www.ncbi.nlm.nih.gov/omim/613123 OMA GAIPGQH http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=GAIPGQH Orphanet 130 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=130 Orphanet 166282 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=166282 OrthoDB EOG091G0JQU http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0JQU PANTHER PTHR10217:SF375 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10217:SF375 PDB 2MNG http://www.ebi.ac.uk/pdbe-srv/view/entry/2MNG PDB 3OTF http://www.ebi.ac.uk/pdbe-srv/view/entry/3OTF PDB 3U11 http://www.ebi.ac.uk/pdbe-srv/view/entry/3U11 PDB 4HBN http://www.ebi.ac.uk/pdbe-srv/view/entry/4HBN PDB 4KL1 http://www.ebi.ac.uk/pdbe-srv/view/entry/4KL1 PDB 4NVP http://www.ebi.ac.uk/pdbe-srv/view/entry/4NVP PDBsum 2MNG http://www.ebi.ac.uk/pdbsum/2MNG PDBsum 3OTF http://www.ebi.ac.uk/pdbsum/3OTF PDBsum 3U11 http://www.ebi.ac.uk/pdbsum/3U11 PDBsum 4HBN http://www.ebi.ac.uk/pdbsum/4HBN PDBsum 4KL1 http://www.ebi.ac.uk/pdbsum/4KL1 PDBsum 4NVP http://www.ebi.ac.uk/pdbsum/4NVP PRINTS PR01463 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01463 PROSITE PS00888 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00888 PROSITE PS50042 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50042 PSORT swissprot:HCN4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:HCN4_HUMAN PSORT-B swissprot:HCN4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:HCN4_HUMAN PSORT2 swissprot:HCN4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:HCN4_HUMAN Pfam PF00027 http://pfam.xfam.org/family/PF00027 Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF08412 http://pfam.xfam.org/family/PF08412 PharmGKB PA394 http://www.pharmgkb.org/do/serve?objId=PA394&objCls=Gene Phobius swissprot:HCN4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:HCN4_HUMAN PhylomeDB Q9Y3Q4 http://phylomedb.org/?seqid=Q9Y3Q4 ProteinModelPortal Q9Y3Q4 http://www.proteinmodelportal.org/query/uniprot/Q9Y3Q4 PubMed 10228147 http://www.ncbi.nlm.nih.gov/pubmed/10228147 PubMed 10430953 http://www.ncbi.nlm.nih.gov/pubmed/10430953 PubMed 15123648 http://www.ncbi.nlm.nih.gov/pubmed/15123648 PubMed 16407510 http://www.ncbi.nlm.nih.gov/pubmed/16407510 PubMed 19165230 http://www.ncbi.nlm.nih.gov/pubmed/19165230 PubMed 20662977 http://www.ncbi.nlm.nih.gov/pubmed/20662977 PubMed 20829353 http://www.ncbi.nlm.nih.gov/pubmed/20829353 PubMed 22006928 http://www.ncbi.nlm.nih.gov/pubmed/22006928 PubMed 23103389 http://www.ncbi.nlm.nih.gov/pubmed/23103389 Reactome R-HSA-1296061 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1296061 RefSeq NP_005468 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_005468 SMART SM00100 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00100 SMR Q9Y3Q4 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9Y3Q4 STRING 9606.ENSP00000261917 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000261917&targetmode=cogs SUPFAM SSF51206 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF51206 TCDB 1.A.1.5.10 http://www.tcdb.org/search/result.php?tc=1.A.1.5.10 TCDB 1.A.1.5.11 http://www.tcdb.org/search/result.php?tc=1.A.1.5.11 UCSC uc002avp http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002avp&org=rat UniGene Hs.86941 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.86941 UniProtKB HCN4_HUMAN http://www.uniprot.org/uniprot/HCN4_HUMAN UniProtKB-AC Q9Y3Q4 http://www.uniprot.org/uniprot/Q9Y3Q4 charge swissprot:HCN4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:HCN4_HUMAN eggNOG ENOG410XPSE http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XPSE eggNOG KOG0498 http://eggnogapi.embl.de/nog_data/html/tree/KOG0498 epestfind swissprot:HCN4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:HCN4_HUMAN garnier swissprot:HCN4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:HCN4_HUMAN helixturnhelix swissprot:HCN4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:HCN4_HUMAN hmoment swissprot:HCN4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:HCN4_HUMAN iep swissprot:HCN4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:HCN4_HUMAN inforesidue swissprot:HCN4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:HCN4_HUMAN neXtProt NX_Q9Y3Q4 http://www.nextprot.org/db/entry/NX_Q9Y3Q4 octanol swissprot:HCN4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:HCN4_HUMAN pepcoil swissprot:HCN4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:HCN4_HUMAN pepdigest swissprot:HCN4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:HCN4_HUMAN pepinfo swissprot:HCN4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:HCN4_HUMAN pepnet swissprot:HCN4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:HCN4_HUMAN pepstats swissprot:HCN4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:HCN4_HUMAN pepwheel swissprot:HCN4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:HCN4_HUMAN pepwindow swissprot:HCN4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:HCN4_HUMAN sigcleave swissprot:HCN4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:HCN4_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS FXYD6_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9H0Q3-1; Sequence=Displayed; Name=2; IsoId=Q9H0Q3-2; Sequence=VSP_045996; Note=No experimental confirmation available.; # AltName FXYD6_HUMAN Phosphohippolin # BioGrid 119799 16 # CCDS CCDS8387 -. [Q9H0Q3-1] # DISEASE FXYD6_HUMAN Schizophrenia 2 (SCZD2) [MIM 603342] A complex, multifactorial psychotic disorder or group of disorders characterized by disturbances in the form and content of thought (e.g. delusions, hallucinations), in mood (e.g. inappropriate affect), in sense of self and relationship to the external world (e.g. loss of ego boundaries, withdrawal), and in behavior (e.g bizarre or apparently purposeless behavior). Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. Some patients manifest schizophrenic as well as bipolar disorder symptoms and are often given the diagnosis of schizoaffective disorder. {ECO 0000269|PubMed 17357072}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. # Ensembl ENST00000260282 ENSP00000260282; ENSG00000137726. [Q9H0Q3-1] # Ensembl ENST00000524656 ENSP00000431427; ENSG00000137726. [Q9H0Q3-1] # Ensembl ENST00000526014 ENSP00000433312; ENSG00000137726. [Q9H0Q3-1] # Ensembl ENST00000527717 ENSP00000431446; ENSG00000137726. [Q9H0Q3-1] # Ensembl ENST00000530956 ENSP00000463158; ENSG00000137726. [Q9H0Q3-1] # Ensembl ENST00000539526 ENSP00000442756; ENSG00000137726. [Q9H0Q3-1] # ExpressionAtlas Q9H0Q3 baseline and differential # GO_component GO:0005886 plasma membrane; IDA:LIFEdb. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0005216 ion channel activity; IEA:InterPro. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:1903779 regulation of cardiac conduction; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0008150 biological_process # GOslim_process GO:0055085 transmembrane transport # Genevisible Q9H0Q3 HS # HGNC HGNC:4030 FXYD6 # INTERACTION FXYD6_HUMAN Q96BA8 CREB3L1; NbExp=3; IntAct=EBI-713304, EBI-6942903; # IntAct Q9H0Q3 19 # InterPro IPR000272 Ion-transport_regulator_FXYD # KEGG_Brite ko02000 Transporters # MIM 181500 phenotype # MIM 603342 phenotype # MIM 606683 gene # Organism FXYD6_HUMAN Homo sapiens (Human) # Orphanet 3140 Schizophrenia # PROSITE PS01310 FXYD # Pfam PF02038 ATP1G1_PLM_MAT8 # ProDom PD005989 PD005989 # Proteomes UP000005640 Chromosome 11 # Reactome R-HSA-5578775 Ion homeostasis # Reactome R-HSA-936837 Ion transport by P-type ATPases # RecName FXYD6_HUMAN FXYD domain-containing ion transport regulator 6 # RefSeq NP_001158303 NM_001164831.2. [Q9H0Q3-1] # RefSeq NP_001158304 NM_001164832.2. [Q9H0Q3-1] # RefSeq NP_001158308 NM_001164836.2. [Q9H0Q3-1] # RefSeq NP_001158309 NM_001164837.2. [Q9H0Q3-1] # RefSeq NP_071286 NM_022003.3. [Q9H0Q3-1] # SEQUENCE CAUTION Sequence=AAQ89335.1; Type=Frameshift; Positions=93; Evidence={ECO 0000305}; # SIMILARITY Belongs to the FXYD family. {ECO 0000305}. # SUBCELLULAR LOCATION FXYD6_HUMAN Membrane {ECO 0000305}; Single-pass type I membrane protein {ECO 0000305}. # TCDB 1.A.27.1 the phospholemman (plm) family # UCSC uc001pro human. [Q9H0Q3-1] # eggNOG ENOG410IZ88 Eukaryota # eggNOG ENOG410YUN8 LUCA BLAST swissprot:FXYD6_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:FXYD6_HUMAN BioCyc ZFISH:ENSG00000137726-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000137726-MONOMER COXPRESdb 53826 http://coxpresdb.jp/data/gene/53826.shtml CleanEx HS_FXYD6 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_FXYD6 DOI 10.1038/nature04632 http://dx.doi.org/10.1038/nature04632 DOI 10.1038/nbt971 http://dx.doi.org/10.1038/nbt971 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1086/513475 http://dx.doi.org/10.1086/513475 DOI 10.1101/gr.1293003 http://dx.doi.org/10.1101/gr.1293003 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1101/gr.GR1547R http://dx.doi.org/10.1101/gr.GR1547R DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 EMBL AK289629 http://www.ebi.ac.uk/ena/data/view/AK289629 EMBL AK290757 http://www.ebi.ac.uk/ena/data/view/AK290757 EMBL AL136699 http://www.ebi.ac.uk/ena/data/view/AL136699 EMBL AL832811 http://www.ebi.ac.uk/ena/data/view/AL832811 EMBL AP000757 http://www.ebi.ac.uk/ena/data/view/AP000757 EMBL AY358976 http://www.ebi.ac.uk/ena/data/view/AY358976 EMBL BC018652 http://www.ebi.ac.uk/ena/data/view/BC018652 EMBL BC093040 http://www.ebi.ac.uk/ena/data/view/BC093040 EMBL BT006717 http://www.ebi.ac.uk/ena/data/view/BT006717 EMBL CH471065 http://www.ebi.ac.uk/ena/data/view/CH471065 EMBL CN310658 http://www.ebi.ac.uk/ena/data/view/CN310658 EMBL CR533457 http://www.ebi.ac.uk/ena/data/view/CR533457 Ensembl ENST00000260282 http://www.ensembl.org/id/ENST00000260282 Ensembl ENST00000524656 http://www.ensembl.org/id/ENST00000524656 Ensembl ENST00000526014 http://www.ensembl.org/id/ENST00000526014 Ensembl ENST00000527717 http://www.ensembl.org/id/ENST00000527717 Ensembl ENST00000530956 http://www.ensembl.org/id/ENST00000530956 Ensembl ENST00000539526 http://www.ensembl.org/id/ENST00000539526 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005216 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005216 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:1903779 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903779 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards FXYD6 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=FXYD6 GeneID 53826 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=53826 GeneTree ENSGT00530000063932 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000063932 HGNC HGNC:4030 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:4030 HOGENOM HOG000234467 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000234467&db=HOGENOM6 HOVERGEN HBG008212 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG008212&db=HOVERGEN HPA HPA041334 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA041334 InParanoid Q9H0Q3 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9H0Q3 IntAct Q9H0Q3 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9H0Q3* InterPro IPR000272 http://www.ebi.ac.uk/interpro/entry/IPR000272 Jabion 53826 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=53826 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Gene hsa:53826 http://www.genome.jp/dbget-bin/www_bget?hsa:53826 KEGG_Orthology KO:K13363 http://www.genome.jp/dbget-bin/www_bget?KO:K13363 MIM 181500 http://www.ncbi.nlm.nih.gov/omim/181500 MIM 603342 http://www.ncbi.nlm.nih.gov/omim/603342 MIM 606683 http://www.ncbi.nlm.nih.gov/omim/606683 MINT MINT-1372177 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1372177 Orphanet 3140 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=3140 PROSITE PS01310 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS01310 PSORT swissprot:FXYD6_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:FXYD6_HUMAN PSORT-B swissprot:FXYD6_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:FXYD6_HUMAN PSORT2 swissprot:FXYD6_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:FXYD6_HUMAN Pfam PF02038 http://pfam.xfam.org/family/PF02038 PharmGKB PA28446 http://www.pharmgkb.org/do/serve?objId=PA28446&objCls=Gene Phobius swissprot:FXYD6_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:FXYD6_HUMAN PhylomeDB Q9H0Q3 http://phylomedb.org/?seqid=Q9H0Q3 ProteinModelPortal Q9H0Q3 http://www.proteinmodelportal.org/query/uniprot/Q9H0Q3 PubMed 11230166 http://www.ncbi.nlm.nih.gov/pubmed/11230166 PubMed 12975309 http://www.ncbi.nlm.nih.gov/pubmed/12975309 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15146197 http://www.ncbi.nlm.nih.gov/pubmed/15146197 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16554811 http://www.ncbi.nlm.nih.gov/pubmed/16554811 PubMed 17357072 http://www.ncbi.nlm.nih.gov/pubmed/17357072 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 Reactome R-HSA-5578775 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5578775 Reactome R-HSA-936837 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-936837 RefSeq NP_001158303 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001158303 RefSeq NP_001158304 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001158304 RefSeq NP_001158308 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001158308 RefSeq NP_001158309 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001158309 RefSeq NP_071286 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_071286 SMR Q9H0Q3 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9H0Q3 STRING 9606.ENSP00000260282 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000260282&targetmode=cogs TCDB 1.A.27.1 http://www.tcdb.org/search/result.php?tc=1.A.27.1 UCSC uc001pro http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001pro&org=rat UniGene Hs.744850 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.744850 UniProtKB FXYD6_HUMAN http://www.uniprot.org/uniprot/FXYD6_HUMAN UniProtKB-AC Q9H0Q3 http://www.uniprot.org/uniprot/Q9H0Q3 charge swissprot:FXYD6_HUMAN http://rest.g-language.org/emboss/charge/swissprot:FXYD6_HUMAN eggNOG ENOG410IZ88 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IZ88 eggNOG ENOG410YUN8 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410YUN8 epestfind swissprot:FXYD6_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:FXYD6_HUMAN garnier swissprot:FXYD6_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:FXYD6_HUMAN helixturnhelix swissprot:FXYD6_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:FXYD6_HUMAN hmoment swissprot:FXYD6_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:FXYD6_HUMAN iep swissprot:FXYD6_HUMAN http://rest.g-language.org/emboss/iep/swissprot:FXYD6_HUMAN inforesidue swissprot:FXYD6_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:FXYD6_HUMAN neXtProt NX_Q9H0Q3 http://www.nextprot.org/db/entry/NX_Q9H0Q3 octanol swissprot:FXYD6_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:FXYD6_HUMAN pepcoil swissprot:FXYD6_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:FXYD6_HUMAN pepdigest swissprot:FXYD6_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:FXYD6_HUMAN pepinfo swissprot:FXYD6_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:FXYD6_HUMAN pepnet swissprot:FXYD6_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:FXYD6_HUMAN pepstats swissprot:FXYD6_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:FXYD6_HUMAN pepwheel swissprot:FXYD6_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:FXYD6_HUMAN pepwindow swissprot:FXYD6_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:FXYD6_HUMAN sigcleave swissprot:FXYD6_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:FXYD6_HUMAN ## Database ID URL or Descriptions # AltName KCNS1_HUMAN Delayed-rectifier K(+) channel alpha subunit 1 # AltName KCNS1_HUMAN Voltage-gated potassium channel subunit Kv9.1 # DOMAIN KCNS1_HUMAN The transmembrane segment S4 functions as voltage-sensor and is characterized by a series of positively charged amino acids at every third position. Channel opening and closing is effected by a conformation change that affects the position and orientation of the voltage-sensor paddle formed by S3 and S4 within the membrane. A transmembrane electric field that is positive inside would push the positively charged S4 segment outwards, thereby opening the pore, while a field that is negative inside would pull the S4 segment inwards and close the pore. Changes in the position and orientation of S4 are then transmitted to the activation gate formed by the inner helix bundle via the S4-S5 linker region. {ECO 0000250|UniProtKB P63142}. # Ensembl ENST00000306117 ENSP00000307694; ENSG00000124134 # Ensembl ENST00000537075 ENSP00000445595; ENSG00000124134 # ExpressionAtlas Q96KK3 baseline and differential # FUNCTION KCNS1_HUMAN Potassium channel subunit that does not form functional channels by itself. Can form functional heterotetrameric channels with KCNB1 and KCNB2; modulates the delayed rectifier voltage- gated potassium channel activation and deactivation rates of KCNB1 and KCNB2 (PubMed 10484328). {ECO 0000269|PubMed 10484328}. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0008076 voltage-gated potassium channel complex; IDA:UniProtKB. # GO_component GO:0048471 perinuclear region of cytoplasm; ISS:UniProtKB. # GO_function GO:0005251 delayed rectifier potassium channel activity; IDA:UniProtKB. # GO_function GO:0015459 potassium channel regulator activity; IDA:UniProtKB. # GO_process GO:0006813 potassium ion transport; TAS:UniProtKB. # GO_process GO:0051260 protein homooligomerization; IEA:InterPro. # GO_process GO:1902259 regulation of delayed rectifier potassium channel activity; ISS:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # Gene3D 1.20.120.350 -; 1. # Genevisible Q96KK3 HS # HGNC HGNC:6300 KCNS1 # InterPro IPR000210 BTB/POZ_dom # InterPro IPR003131 T1-type_BTB # InterPro IPR003968 K_chnl_volt-dep_Kv # InterPro IPR003971 K_chnl_volt-dep_Kv9 # InterPro IPR005821 Ion_trans_dom # InterPro IPR011333 SKP1/BTB/POZ # InterPro IPR027359 Channel_four-helix_dom # InterPro IPR028325 VG_K_chnl # KEGG_Brite ko04040 Ion channels # MIM 602905 gene # Organism KCNS1_HUMAN Homo sapiens (Human) # PANTHER PTHR11537 PTHR11537 # PRINTS PR00169 KCHANNEL # PRINTS PR01491 KVCHANNEL # PRINTS PR01494 KV9CHANNEL # Pfam PF00520 Ion_trans # Pfam PF02214 BTB_2 # Proteomes UP000005640 Chromosome 20 # Reactome R-HSA-1296072 Voltage gated Potassium channels # RecName KCNS1_HUMAN Potassium voltage-gated channel subfamily S member 1 # RefSeq NP_001309728 NM_001322799.1 # RefSeq NP_002242 NM_002251.4 # SIMILARITY Belongs to the potassium channel family. S (TC 1.A.1.2) subfamily. Kv9.1/KCNS1 sub-subfamily. {ECO 0000305}. # SMART SM00225 BTB # SUBCELLULAR LOCATION KCNS1_HUMAN Cell membrane {ECO 0000269|PubMed 10484328}; Multi-pass membrane protein {ECO 0000305}. Note=May not reach the plasma membrane but remain in an intracellular compartment in the absence of KCNB1 or KCNB2 (PubMed 10484328). {ECO 0000269|PubMed 10484328}. # SUBUNIT KCNS1_HUMAN Heterotetramer with KCNB1 (PubMed 10484328). Heterotetramer with KCNB2 (By similarity). Does not form homomultimers (PubMed 10484328). {ECO 0000250|UniProtKB O35173, ECO 0000269|PubMed 10484328}. # SUPFAM SSF54695 SSF54695 # TCDB 1.A.1.2 the voltage-gated ion channel (vic) superfamily # TISSUE SPECIFICITY Detected in all tissues tested with the exception of skeletal muscle. Highly expressed in adult and fetal brain, fetal kidney and lung, and adult prostate and testis (PubMed:10484328). {ECO 0000269|PubMed:10484328}. # UCSC uc002xnc human # eggNOG COG1226 LUCA # eggNOG KOG3713 Eukaryota BLAST swissprot:KCNS1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCNS1_HUMAN BioCyc ZFISH:ENSG00000124134-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000124134-MONOMER COXPRESdb 3787 http://coxpresdb.jp/data/gene/3787.shtml CleanEx HS_KCNS1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNS1 DOI 10.1038/414865a http://dx.doi.org/10.1038/414865a DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AF043473 http://www.ebi.ac.uk/ena/data/view/AF043473 EMBL BC075033 http://www.ebi.ac.uk/ena/data/view/BC075033 EMBL BC075034 http://www.ebi.ac.uk/ena/data/view/BC075034 EMBL BC132959 http://www.ebi.ac.uk/ena/data/view/BC132959 EMBL BC144234 http://www.ebi.ac.uk/ena/data/view/BC144234 EMBL Z93016 http://www.ebi.ac.uk/ena/data/view/Z93016 Ensembl ENST00000306117 http://www.ensembl.org/id/ENST00000306117 Ensembl ENST00000537075 http://www.ensembl.org/id/ENST00000537075 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0008076 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008076 GO_component GO:0048471 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048471 GO_function GO:0005251 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005251 GO_function GO:0015459 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015459 GO_process GO:0006813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006813 GO_process GO:0051260 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051260 GO_process GO:1902259 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902259 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 Gene3D 1.20.120.350 http://www.cathdb.info/version/latest/superfamily/1.20.120.350 GeneCards KCNS1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNS1 GeneID 3787 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=3787 GeneTree ENSGT00760000118981 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118981 HGNC HGNC:6300 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6300 HOGENOM HOG000231016 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231016&db=HOGENOM6 HOVERGEN HBG052230 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052230&db=HOVERGEN InParanoid Q96KK3 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q96KK3 InterPro IPR000210 http://www.ebi.ac.uk/interpro/entry/IPR000210 InterPro IPR003131 http://www.ebi.ac.uk/interpro/entry/IPR003131 InterPro IPR003968 http://www.ebi.ac.uk/interpro/entry/IPR003968 InterPro IPR003971 http://www.ebi.ac.uk/interpro/entry/IPR003971 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR011333 http://www.ebi.ac.uk/interpro/entry/IPR011333 InterPro IPR027359 http://www.ebi.ac.uk/interpro/entry/IPR027359 InterPro IPR028325 http://www.ebi.ac.uk/interpro/entry/IPR028325 Jabion 3787 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=3787 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:3787 http://www.genome.jp/dbget-bin/www_bget?hsa:3787 KEGG_Orthology KO:K04931 http://www.genome.jp/dbget-bin/www_bget?KO:K04931 MIM 602905 http://www.ncbi.nlm.nih.gov/omim/602905 OMA WLTLENP http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=WLTLENP OrthoDB EOG091G0FP3 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0FP3 PANTHER PTHR11537 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11537 PRINTS PR00169 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00169 PRINTS PR01491 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01491 PRINTS PR01494 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01494 PSORT swissprot:KCNS1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCNS1_HUMAN PSORT-B swissprot:KCNS1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCNS1_HUMAN PSORT2 swissprot:KCNS1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCNS1_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF02214 http://pfam.xfam.org/family/PF02214 PharmGKB PA30078 http://www.pharmgkb.org/do/serve?objId=PA30078&objCls=Gene Phobius swissprot:KCNS1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCNS1_HUMAN PhylomeDB Q96KK3 http://phylomedb.org/?seqid=Q96KK3 ProteinModelPortal Q96KK3 http://www.proteinmodelportal.org/query/uniprot/Q96KK3 PubMed 10484328 http://www.ncbi.nlm.nih.gov/pubmed/10484328 PubMed 11780052 http://www.ncbi.nlm.nih.gov/pubmed/11780052 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 Reactome R-HSA-1296072 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1296072 RefSeq NP_001309728 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001309728 RefSeq NP_002242 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_002242 SMART SM00225 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00225 STRING 9606.ENSP00000307694 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000307694&targetmode=cogs SUPFAM SSF54695 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF54695 TCDB 1.A.1.2 http://www.tcdb.org/search/result.php?tc=1.A.1.2 UCSC uc002xnc http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002xnc&org=rat UniGene Hs.117780 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.117780 UniGene Hs.563002 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.563002 UniProtKB KCNS1_HUMAN http://www.uniprot.org/uniprot/KCNS1_HUMAN UniProtKB-AC Q96KK3 http://www.uniprot.org/uniprot/Q96KK3 charge swissprot:KCNS1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCNS1_HUMAN eggNOG COG1226 http://eggnogapi.embl.de/nog_data/html/tree/COG1226 eggNOG KOG3713 http://eggnogapi.embl.de/nog_data/html/tree/KOG3713 epestfind swissprot:KCNS1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCNS1_HUMAN garnier swissprot:KCNS1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCNS1_HUMAN helixturnhelix swissprot:KCNS1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCNS1_HUMAN hmoment swissprot:KCNS1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCNS1_HUMAN iep swissprot:KCNS1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCNS1_HUMAN inforesidue swissprot:KCNS1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCNS1_HUMAN neXtProt NX_Q96KK3 http://www.nextprot.org/db/entry/NX_Q96KK3 octanol swissprot:KCNS1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCNS1_HUMAN pepcoil swissprot:KCNS1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCNS1_HUMAN pepdigest swissprot:KCNS1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCNS1_HUMAN pepinfo swissprot:KCNS1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCNS1_HUMAN pepnet swissprot:KCNS1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCNS1_HUMAN pepstats swissprot:KCNS1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCNS1_HUMAN pepwheel swissprot:KCNS1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCNS1_HUMAN pepwindow swissprot:KCNS1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCNS1_HUMAN sigcleave swissprot:KCNS1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCNS1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS SC5A2_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P31639-1; Sequence=Displayed; Name=2; IsoId=P31639-2; Sequence=VSP_056333, VSP_056334; Note=No experimental confirmation available.; # AltName SC5A2_HUMAN Low affinity sodium-glucose cotransporter # AltName SC5A2_HUMAN Solute carrier family 5 member 2 # CCDS CCDS10714 -. [P31639-1] # ChiTaRS SLC5A2 human # DISEASE SC5A2_HUMAN Renal glucosuria (GLYS) [MIM 233100] A disorder characterized by persistent isolated glucosuria, normal fasting serum glucose concentration, decreased renal tubular resorption of glucose from the urine, and absence of any other signs of tubular dysfunction. {ECO 0000269|PubMed 14614622}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DrugBank DB06292 Dapagliflozin # DrugBank DB08907 Canagliflozin # DrugBank DB09038 Empagliflozin # Ensembl ENST00000330498 ENSP00000327943; ENSG00000140675. [P31639-1] # Ensembl ENST00000419665 ENSP00000410601; ENSG00000140675. [P31639-2] # ExpressionAtlas P31639 baseline and differential # FUNCTION SC5A2_HUMAN Efficient substrate transport in mammalian kidney is provided by the concerted action of a low affinity high capacity and a high affinity low capacity Na(+)/glucose cotransporter arranged in series along kidney proximal tubules. # FUNCTION SC5A2_HUMAN Sodium-dependent glucose transporter. Has a Na(+) to glucose coupling ratio of 1 1. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0016021 integral component of membrane; TAS:ProtInc. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function SC5A2_HUMAN GO 0005362 low-affinity glucose sodium symporter activity; TAS ProtInc. # GO_function SC5A2_HUMAN GO 0005412 glucose sodium symporter activity; TAS Reactome. # GO_process GO:0005975 carbohydrate metabolic process; TAS:ProtInc. # GO_process GO:0006810 transport; TAS:ProtInc. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0005975 carbohydrate metabolic process # GOslim_process GO:0006810 transport # Genevisible P31639 HS # HGNC HGNC:11037 SLC5A2 # InterPro IPR001734 Na/solute_symporter # InterPro IPR018212 Na/solute_symporter_CS # KEGG_Brite ko02001 Solute carrier family # KEGG_Disease H01126 [Urinary system disease; Inherited metabolic disease] Familial renal glucosuria (FRG) # MIM 182381 gene # MIM 233100 phenotype # Organism SC5A2_HUMAN Homo sapiens (Human) # Orphanet 69076 Renal glucosuria # PANTHER PTHR11819 PTHR11819; 2 # PIR A56765 A56765 # PROSITE PS00456 NA_SOLUT_SYMP_1 # PROSITE PS00457 NA_SOLUT_SYMP_2 # PROSITE PS50283 NA_SOLUT_SYMP_3 # Pfam PF00474 SSF # Proteomes UP000005640 Chromosome 16 # Reactome R-HSA-189200 Hexose transport # Reactome R-HSA-428808 Na+-dependent glucose transporters # Reactome R-HSA-429593 Inositol transporters # RecName SC5A2_HUMAN Sodium/glucose cotransporter 2 # RefSeq NP_003032 NM_003041.3. [P31639-1] # SIMILARITY Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family. {ECO 0000305}. # SUBCELLULAR LOCATION SC5A2_HUMAN Membrane; Multi-pass membrane protein. # TCDB 2.A.21.3.16:the solute sodium symporter (sss) family # TIGRFAMs TIGR00813 sss # UCSC uc002ecf human. [P31639-1] # eggNOG COG4146 LUCA # eggNOG ENOG410IP49 Eukaryota BLAST swissprot:SC5A2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SC5A2_HUMAN BioCyc ZFISH:ENSG00000140675-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000140675-MONOMER COXPRESdb 6524 http://coxpresdb.jp/data/gene/6524.shtml CleanEx HS_SLC5A2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC5A2 DOI 10.1007/s00439-003-1054-x http://dx.doi.org/10.1007/s00439-003-1054-x DOI 10.1038/nature03187 http://dx.doi.org/10.1038/nature03187 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DrugBank DB06292 http://www.drugbank.ca/drugs/DB06292 DrugBank DB08907 http://www.drugbank.ca/drugs/DB08907 DrugBank DB09038 http://www.drugbank.ca/drugs/DB09038 EMBL AC026471 http://www.ebi.ac.uk/ena/data/view/AC026471 EMBL BC131542 http://www.ebi.ac.uk/ena/data/view/BC131542 EMBL M95549 http://www.ebi.ac.uk/ena/data/view/M95549 Ensembl ENST00000330498 http://www.ensembl.org/id/ENST00000330498 Ensembl ENST00000419665 http://www.ensembl.org/id/ENST00000419665 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0005362 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005362 GO_function GO:0005412 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005412 GO_process GO:0005975 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005975 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0005975 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005975 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GeneCards SLC5A2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC5A2 GeneID 6524 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6524 GeneTree ENSGT00760000118955 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118955 HGNC HGNC:11037 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11037 HOGENOM HOG000025422 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000025422&db=HOGENOM6 HOVERGEN HBG052859 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052859&db=HOVERGEN HPA HPA041603 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA041603 InParanoid P31639 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P31639 InterPro IPR001734 http://www.ebi.ac.uk/interpro/entry/IPR001734 InterPro IPR018212 http://www.ebi.ac.uk/interpro/entry/IPR018212 Jabion 6524 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6524 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Disease H01126 http://www.genome.jp/dbget-bin/www_bget?H01126 KEGG_Gene hsa:6524 http://www.genome.jp/dbget-bin/www_bget?hsa:6524 KEGG_Orthology KO:K14382 http://www.genome.jp/dbget-bin/www_bget?KO:K14382 MIM 182381 http://www.ncbi.nlm.nih.gov/omim/182381 MIM 233100 http://www.ncbi.nlm.nih.gov/omim/233100 OMA CTAPIPR http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=CTAPIPR Orphanet 69076 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=69076 OrthoDB EOG091G077U http://cegg.unige.ch/orthodb/results?searchtext=EOG091G077U PANTHER PTHR11819 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11819 PROSITE PS00456 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00456 PROSITE PS00457 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00457 PROSITE PS50283 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50283 PSORT swissprot:SC5A2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SC5A2_HUMAN PSORT-B swissprot:SC5A2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SC5A2_HUMAN PSORT2 swissprot:SC5A2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SC5A2_HUMAN Pfam PF00474 http://pfam.xfam.org/family/PF00474 PharmGKB PA35902 http://www.pharmgkb.org/do/serve?objId=PA35902&objCls=Gene Phobius swissprot:SC5A2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SC5A2_HUMAN PhylomeDB P31639 http://phylomedb.org/?seqid=P31639 ProteinModelPortal P31639 http://www.proteinmodelportal.org/query/uniprot/P31639 PubMed 1415574 http://www.ncbi.nlm.nih.gov/pubmed/1415574 PubMed 14614622 http://www.ncbi.nlm.nih.gov/pubmed/14614622 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15616553 http://www.ncbi.nlm.nih.gov/pubmed/15616553 Reactome R-HSA-189200 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-189200 Reactome R-HSA-428808 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-428808 Reactome R-HSA-429593 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-429593 RefSeq NP_003032 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_003032 STRING 9606.ENSP00000327943 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000327943&targetmode=cogs TCDB 2.A.21.3.16 http://www.tcdb.org/search/result.php?tc=2.A.21.3.16 TIGRFAMs TIGR00813 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00813 UCSC uc002ecf http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002ecf&org=rat UniGene Hs.709195 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.709195 UniProtKB SC5A2_HUMAN http://www.uniprot.org/uniprot/SC5A2_HUMAN UniProtKB-AC P31639 http://www.uniprot.org/uniprot/P31639 charge swissprot:SC5A2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SC5A2_HUMAN eggNOG COG4146 http://eggnogapi.embl.de/nog_data/html/tree/COG4146 eggNOG ENOG410IP49 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IP49 epestfind swissprot:SC5A2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SC5A2_HUMAN garnier swissprot:SC5A2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SC5A2_HUMAN helixturnhelix swissprot:SC5A2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SC5A2_HUMAN hmoment swissprot:SC5A2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SC5A2_HUMAN iep swissprot:SC5A2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SC5A2_HUMAN inforesidue swissprot:SC5A2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SC5A2_HUMAN neXtProt NX_P31639 http://www.nextprot.org/db/entry/NX_P31639 octanol swissprot:SC5A2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SC5A2_HUMAN pepcoil swissprot:SC5A2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SC5A2_HUMAN pepdigest swissprot:SC5A2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SC5A2_HUMAN pepinfo swissprot:SC5A2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SC5A2_HUMAN pepnet swissprot:SC5A2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SC5A2_HUMAN pepstats swissprot:SC5A2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SC5A2_HUMAN pepwheel swissprot:SC5A2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SC5A2_HUMAN pepwindow swissprot:SC5A2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SC5A2_HUMAN sigcleave swissprot:SC5A2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SC5A2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS OPRM_HUMAN Event=Alternative splicing; Named isoforms=18; Comment=Additional isoforms seem to exist.; Name=1; IsoId=P35372-1; Sequence=Displayed; Name=2; Synonyms=MOR1A, MOR-1A; IsoId=P35372-2; Sequence=VSP_001896; Name=3; Synonyms=MOR-1R, MOR-1X; IsoId=P35372-3; Sequence=VSP_037695; Note=Ref.4 (AAK74189) sequence is in conflict in position 402 Q->H. {ECO 0000305}; Name=4; Synonyms=MOR-1B3; IsoId=P35372-4; Sequence=VSP_037696; Name=5; Synonyms=MOR-1C, MOR-1O; IsoId=P35372-5; Sequence=VSP_037697; Name=6; Synonyms=MOR-1V, MOR-1Y, MOR-1Y2, MOR-1Y3; IsoId=P35372-6; Sequence=VSP_037698; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=7; Synonyms=MOR-1B1; IsoId=P35372-7; Sequence=VSP_037699; Name=8; Synonyms=MOR-1B2; IsoId=P35372-8; Sequence=VSP_037700; Name=9; Synonyms=MOR-1B5; IsoId=P35372-9; Sequence=VSP_037701; Note=Ref.5 (AAQ77392) sequence differs from that shown due to a polymorphism leading to premature termination of translation (position 411 Q->Stop). {ECO 0000305}; Name=10; Synonyms=MOR-1i; IsoId=P35372-10; Sequence=VSP_037693; Name=11; Synonyms=MOR-1B4; IsoId=P35372-11; Sequence=VSP_037694; Name=12; Synonyms=MOR-1G1, MOR-1K; IsoId=P35372-12; Sequence=VSP_042327; Name=13; Synonyms=MOR-1G2; IsoId=P35372-13; Sequence=VSP_042328; Name=14; Synonyms=Mu3; IsoId=P35372-14; Sequence=VSP_042327, VSP_042331; Name=15; Synonyms=MOR-1W; IsoId=P35372-15; Sequence=VSP_042327, VSP_001896; Name=16; Synonyms=SV1; IsoId=P35372-16; Sequence=VSP_042330; Name=17; Synonyms=SV2; IsoId=P35372-17; Sequence=VSP_042329; Name=18; Synonyms=hMOR-1Z; IsoId=P35372-18; Sequence=VSP_047577, VSP_047578; # AltName OPRM_HUMAN Mu opiate receptor # AltName OPRM_HUMAN Mu opioid receptor # BioGrid 111033 73 # CCDS CCDS43517 -. [P35372-5] # CCDS CCDS43518 -. [P35372-3] # CCDS CCDS47503 -. [P35372-10] # CCDS CCDS47504 -. [P35372-7] # CCDS CCDS47505 -. [P35372-8] # CCDS CCDS47506 -. [P35372-4] # CCDS CCDS47507 -. [P35372-9] # CCDS CCDS47508 -. [P35372-2] # CCDS CCDS55068 -. [P35372-13] # CCDS CCDS55069 -. [P35372-11] # CCDS CCDS55070 -. [P35372-1] # CCDS CCDS55071 -. [P35372-12] # DrugBank DB00193 Tramadol # DrugBank DB00295 Morphine # DrugBank DB00318 Codeine # DrugBank DB00321 Amitriptyline # DrugBank DB00327 Hydromorphone # DrugBank DB00333 Methadone # DrugBank DB00454 Pethidine # DrugBank DB00497 Oxycodone # DrugBank DB00504 Levallorphan # DrugBank DB00514 Dextromethorphan # DrugBank DB00611 Butorphanol # DrugBank DB00647 Dextropropoxyphene # DrugBank DB00652 Pentazocine # DrugBank DB00704 Naltrexone # DrugBank DB00708 Sufentanil # DrugBank DB00802 Alfentanil # DrugBank DB00813 Fentanyl # DrugBank DB00836 Loperamide # DrugBank DB00844 Nalbuphine # DrugBank DB00854 Levorphanol # DrugBank DB00899 Remifentanil # DrugBank DB00904 Ondansetron # DrugBank DB00913 Anileridine # DrugBank DB00921 Buprenorphine # DrugBank DB00956 Hydrocodone # DrugBank DB01081 Diphenoxylate # DrugBank DB01183 Naloxone # DrugBank DB01192 Oxymorphone # DrugBank DB01209 Dezocine # DrugBank DB01221 Ketamine # DrugBank DB01227 Levomethadyl Acetate # DrugBank DB01433 Methadyl Acetate # DrugBank DB01452 Heroin # DrugBank DB01466 Ethylmorphine # DrugBank DB06204 Tapentadol # DrugBank DB06274 Alvimopan # DrugBank DB06738 Ketobemidone # DrugBank DB06800 Methylnaltrexone # DrugBank DB09049 Naloxegol # DrugBank DB09272 Eluxadoline # Ensembl ENST00000229768 ENSP00000229768; ENSG00000112038. [P35372-3] # Ensembl ENST00000330432 ENSP00000328264; ENSG00000112038. [P35372-1] # Ensembl ENST00000337049 ENSP00000338381; ENSG00000112038. [P35372-5] # Ensembl ENST00000414028 ENSP00000399359; ENSG00000112038. [P35372-4] # Ensembl ENST00000419506 ENSP00000403549; ENSG00000112038. [P35372-9] # Ensembl ENST00000428397 ENSP00000411903; ENSG00000112038. [P35372-2] # Ensembl ENST00000434900 ENSP00000394624; ENSG00000112038. [P35372-10] # Ensembl ENST00000435918 ENSP00000413752; ENSG00000112038. [P35372-8] # Ensembl ENST00000452687 ENSP00000410497; ENSG00000112038. [P35372-7] # Ensembl ENST00000518759 ENSP00000430260; ENSG00000112038. [P35372-13] # Ensembl ENST00000519083 ENSP00000431048; ENSG00000112038. [P35372-6] # Ensembl ENST00000520708 ENSP00000430876; ENSG00000112038. [P35372-12] # Ensembl ENST00000522236 ENSP00000429373; ENSG00000112038. [P35372-12] # Ensembl ENST00000522555 ENSP00000429719; ENSG00000112038. [P35372-12] # Ensembl ENST00000522739 ENSP00000428018; ENSG00000112038. [P35372-6] # Ensembl ENST00000524150 ENSP00000430575; ENSG00000112038. [P35372-18] # Ensembl ENST00000524163 ENSP00000430097; ENSG00000112038. [P35372-11] # ExpressionAtlas P35372 baseline and differential # FUNCTION OPRM_HUMAN Receptor for endogenous opioids such as beta-endorphin and endomorphin. Receptor for natural and synthetic opioids including morphine, heroin, DAMGO, fentanyl, etorphine, buprenorphin and methadone. Agonist binding to the receptor induces coupling to an inactive GDP-bound heterotrimeric G-protein complex and subsequent exchange of GDP for GTP in the G-protein alpha subunit leading to dissociation of the G-protein complex with the free GTP-bound G-protein alpha and the G-protein beta- gamma dimer activating downstream cellular effectors. The agonist- and cell type-specific activity is predominantly coupled to pertussis toxin-sensitive G(i) and G(o) G alpha proteins, GNAI1, GNAI2, GNAI3 and GNAO1 isoforms Alpha-1 and Alpha-2, and to a lesser extent to pertussis toxin-insensitive G alpha proteins GNAZ and GNA15. They mediate an array of downstream cellular responses, including inhibition of adenylate cyclase activity and both N-type and L-type calcium channels, activation of inward rectifying potassium channels, mitogen-activated protein kinase (MAPK), phospholipase C (PLC), phosphoinositide/protein kinase (PKC), phosphoinositide 3-kinase (PI3K) and regulation of NF-kappa-B. Also couples to adenylate cyclase stimulatory G alpha proteins. The selective temporal coupling to G-proteins and subsequent signaling can be regulated by RGSZ proteins, such as RGS9, RGS17 and RGS4. Phosphorylation by members of the GPRK subfamily of Ser/Thr protein kinases and association with beta-arrestins is involved in short-term receptor desensitization. Beta-arrestins associate with the GPRK-phosphorylated receptor and uncouple it from the G-protein thus terminating signal transduction. The phosphorylated receptor is internalized through endocytosis via clathrin-coated pits which involves beta-arrestins. The activation of the ERK pathway occurs either in a G-protein-dependent or a beta-arrestin-dependent manner and is regulated by agonist- specific receptor phosphorylation. Acts as a class A G-protein coupled receptor (GPCR) which dissociates from beta-arrestin at or near the plasma membrane and undergoes rapid recycling. Receptor down-regulation pathways are varying with the agonist and occur dependent or independent of G-protein coupling. Endogenous ligands induce rapid desensitization, endocytosis and recycling whereas morphine induces only low desensitization and endocytosis. Heterooligomerization with other GPCRs can modulate agonist binding, signaling and trafficking properties. Involved in neurogenesis. Isoform 12 couples to GNAS and is proposed to be involved in excitatory effects. Isoform 16 and isoform 17 do not bind agonists but may act through oligomerization with binding- competent OPRM1 isoforms and reduce their ligand binding activity. # GO_component GO:0005623 cell; IEA:GOC. # GO_component GO:0005783 endoplasmic reticulum; TAS:ProtInc. # GO_component GO:0005794 Golgi apparatus; TAS:ProtInc. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0005925 focal adhesion; IEA:Ensembl. # GO_component GO:0032590 dendrite membrane; IEA:Ensembl. # GO_component GO:0032839 dendrite cytoplasm; IEA:Ensembl. # GO_component GO:0042383 sarcolemma; IEA:Ensembl. # GO_component GO:0043005 neuron projection; IBA:GO_Central. # GO_component GO:0043204 perikaryon; IEA:Ensembl. # GO_component GO:0045121 membrane raft; IEA:Ensembl. # GO_component GO:0098794 postsynapse; IEA:GOC. # GO_function GO:0001965 G-protein alpha-subunit binding; IDA:UniProtKB. # GO_function GO:0004930 G-protein coupled receptor activity; ISS:UniProtKB. # GO_function GO:0004979 beta-endorphin receptor activity; IMP:UniProtKB. # GO_function GO:0005245 voltage-gated calcium channel activity; ISS:UniProtKB. # GO_function GO:0031681 G-protein beta-subunit binding; IBA:GO_Central. # GO_function GO:0038047 morphine receptor activity; ISS:UniProtKB. # GO_function GO:0042923 neuropeptide binding; IBA:GO_Central. # GO_process GO:0002438 acute inflammatory response to antigenic stimulus; IEA:Ensembl. # GO_process GO:0007187 G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger; TAS:ProtInc. # GO_process GO:0007191 adenylate cyclase-activating dopamine receptor signaling pathway; IEA:Ensembl. # GO_process GO:0007194 negative regulation of adenylate cyclase activity; ISS:UniProtKB. # GO_process GO:0007200 phospholipase C-activating G-protein coupled receptor signaling pathway; ISS:UniProtKB. # GO_process GO:0007204 positive regulation of cytosolic calcium ion concentration; IDA:UniProtKB. # GO_process GO:0007268 chemical synaptic transmission; IBA:GO_Central. # GO_process GO:0007600 sensory perception; NAS:UniProtKB. # GO_process GO:0007626 locomotory behavior; IEA:Ensembl. # GO_process GO:0008285 negative regulation of cell proliferation; TAS:ProtInc. # GO_process GO:0009314 response to radiation; IEA:Ensembl. # GO_process GO:0019233 sensory perception of pain; ISS:UniProtKB. # GO_process GO:0031635 adenylate cyclase-inhibiting opioid receptor signaling pathway; IEA:Ensembl. # GO_process GO:0032094 response to food; IEA:Ensembl. # GO_process GO:0032100 positive regulation of appetite; IEA:Ensembl. # GO_process GO:0032496 response to lipopolysaccharide; IEA:Ensembl. # GO_process GO:0033554 cellular response to stress; IMP:UniProtKB. # GO_process GO:0042060 wound healing; IEA:Ensembl. # GO_process GO:0042220 response to cocaine; IEA:Ensembl. # GO_process GO:0042755 eating behavior; IEA:Ensembl. # GO_process GO:0043950 positive regulation of cAMP-mediated signaling; IDA:UniProtKB. # GO_process GO:0043951 negative regulation of cAMP-mediated signaling; IDA:UniProtKB. # GO_process GO:0044849 estrous cycle; IEA:Ensembl. # GO_process GO:0045019 negative regulation of nitric oxide biosynthetic process; IDA:UniProtKB. # GO_process GO:0045429 positive regulation of nitric oxide biosynthetic process; IDA:UniProtKB. # GO_process GO:0048149 behavioral response to ethanol; IMP:UniProtKB. # GO_process GO:0050769 positive regulation of neurogenesis; ISS:UniProtKB. # GO_process GO:0051481 negative regulation of cytosolic calcium ion concentration; IDA:UniProtKB. # GO_process GO:0051930 regulation of sensory perception of pain; IEA:Ensembl. # GO_process GO:0060079 excitatory postsynaptic potential; IEA:Ensembl. # GO_process GO:0061358 negative regulation of Wnt protein secretion; IMP:UniProtKB. # GO_process GO:0070374 positive regulation of ERK1 and ERK2 cascade; ISS:UniProtKB. # GO_process GO:0070848 response to growth factor; IEA:Ensembl. # GO_process GO:0071315 cellular response to morphine; IBA:GO_Central. # GO_process GO:2000310 regulation of N-methyl-D-aspartate selective glutamate receptor activity; ISS:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005623 cell # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_component GO:0005794 Golgi apparatus # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0002376 immune system process # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0050877 neurological system process # Genevisible P35372 HS # HGNC HGNC:8156 OPRM1 # INTERACTION OPRM_HUMAN Q9Y679 AUP1; NbExp=4; IntAct=EBI-2624570, EBI-1058701; Q92905 COPS5; NbExp=5; IntAct=EBI-2624570, EBI-594661; Q8TEW6 DOK4; NbExp=4; IntAct=EBI-2624570, EBI-6918542; P21333 FLNA; NbExp=5; IntAct=EBI-2624570, EBI-350432; P35212 GJA4; NbExp=2; IntAct=EBI-2624570, EBI-6918707; P01210 PENK; NbExp=3; IntAct=EBI-2624570, EBI-6656055; Q96S59 RANBP9; NbExp=5; IntAct=EBI-2624570, EBI-636085; Q8IUQ4 SIAH1; NbExp=4; IntAct=EBI-2624570, EBI-747107; O43255 SIAH2; NbExp=3; IntAct=EBI-2624570, EBI-948141; Q9P0L0 VAPA; NbExp=3; IntAct=EBI-2624570, EBI-1059156; Q5T9L3 WLS; NbExp=10; IntAct=EBI-2624570, EBI-2868748; Q15942 ZYX; NbExp=2; IntAct=EBI-2624570, EBI-444225; # IntAct P35372 15 # InterPro IPR000105 Mu_opioid_rcpt # InterPro IPR000276 GPCR_Rhodpsn # InterPro IPR001418 Opioid_rcpt # InterPro IPR017452 GPCR_Rhodpsn_7TM # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04030 G protein-coupled receptors # KEGG_Disease H01611 [Nervous system diseases; Other nervous system diseases] Alcohol dependence # KEGG_Pathway ko04080 Neuroactive ligand-receptor interaction # KEGG_Pathway ko05032 Morphine addiction # MIM 600018 gene # MISCELLANEOUS OPRM_HUMAN OPRM1 is the main physiological target for most clinically important opioid analgesics. OPRM1-mediated inhibition of voltage-gated calcium channels on central presynaptic terminals of primary afferent nociceptors is thought to be one of the primary mechanisms mediating analgesia at the spinal level. Opioid-induced hyperalgesic responses are observed following both acute and chronic dosing associated with cellular excitation. # Organism OPRM_HUMAN Homo sapiens (Human) # PIR I56553 I56553 # PIR S65693 S65693 # POLYMORPHISM OPRM_HUMAN Variant Asp-40 does not show altered binding affinities for most opioid peptides and alkaloids tested, but it binds beta-endorphin, an endogenous opioid that activates the mu opioid receptor, approximately 3 times more tightly than the most common allelic form. # PRINTS PR00237 GPCRRHODOPSN # PRINTS PR00384 OPIOIDR # PRINTS PR00537 MUOPIOIDR # PROSITE PS00237 G_PROTEIN_RECEP_F1_1 # PROSITE PS50262 G_PROTEIN_RECEP_F1_2 # PTM OPRM_HUMAN Phosphorylated. Differentially phosphorylated in basal and agonist-induced conditions. Agonist-mediated phosphorylation modulates receptor internalization. Phosphorylated by GRK2 in a agonist-dependent manner. Phosphorylation at Tyr-168 requires receptor activation, is dependent on non-receptor protein tyrosine kinase Src and results in a decrease in agonist efficacy by reducing G-protein coupling efficiency. Phosphorylated on tyrosine residues; the phosphorylation is involved in agonist-induced G- protein-independent receptor down-regulation. Phosphorylation at Ser-377 is involved in G-protein-dependent but not beta-arrestin- dependent activation of the ERK pathway (By similarity). {ECO 0000250}. # PTM OPRM_HUMAN Ubiquitinated. A basal ubiquitination seems not to be related to degradation. Ubiquitination is increased upon formation of OPRM1 OPRD1 oligomers leading to proteasomal degradation; the ubiquitination is diminished by RTP4 (By similarity). {ECO 0000250}. # Pfam PF00001 7tm_1 # Proteomes UP000005640 Chromosome 6 # Reactome R-HSA-111885 Opioid Signalling # Reactome R-HSA-202040 G-protein activation # Reactome R-HSA-375276 Peptide ligand-binding receptors # Reactome R-HSA-418594 G alpha (i) signalling events # RecName OPRM_HUMAN Mu-type opioid receptor # RefSeq NP_000905 NM_000914.4. [P35372-1] # RefSeq NP_001008503 NM_001008503.2. [P35372-5] # RefSeq NP_001008504 NM_001008504.3. [P35372-2] # RefSeq NP_001008505 NM_001008505.2. [P35372-3] # RefSeq NP_001138751 NM_001145279.3. [P35372-10] # RefSeq NP_001138752 NM_001145280.3. [P35372-12] # RefSeq NP_001138753 NM_001145281.2. [P35372-13] # RefSeq NP_001138754 NM_001145282.2. [P35372-7] # RefSeq NP_001138755 NM_001145283.2. [P35372-8] # RefSeq NP_001138756 NM_001145284.3. [P35372-4] # RefSeq NP_001138757 NM_001145285.2. [P35372-11] # RefSeq NP_001138758 NM_001145286.2. [P35372-9] # RefSeq NP_001138759 NM_001145287.2. [P35372-12] # RefSeq NP_001272452 NM_001285523.1 # RefSeq NP_001272453 NM_001285524.1. [P35372-10] # RefSeq NP_001272455 NM_001285526.1. [P35372-12] # RefSeq NP_001272456 NM_001285527.1. [P35372-15] # RefSeq NP_001272457 NM_001285528.1. [P35372-14] # RefSeq XP_016866395 XM_017010906.1. [P35372-12] # SEQUENCE CAUTION Sequence=CAI20458.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=EAW47705.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the G-protein coupled receptor 1 family. {ECO:0000255|PROSITE-ProRule PRU00521}. # SUBCELLULAR LOCATION OPRM_HUMAN Cell membrane {ECO 0000269|PubMed 16580639}; Multi-pass membrane protein {ECO 0000269|PubMed 16580639}. # SUBCELLULAR LOCATION OPRM_HUMAN Isoform 12 Cytoplasm {ECO 0000269|PubMed 20525224}. # SUBUNIT Forms homooligomers and heterooligomers with other GPCRs, such as OPRD1, OPRK1, OPRL1, NPFFR2, ADRA2A, SSTR2, CNR1 and CCR5 (probably in dimeric forms). Interacts with PPL; the interaction disrupts agonist-mediated G-protein activation. Interacts (via C- terminus) with DNAJB4 (via C-terminus). Interacts with calmodulin; the interaction inhibits the constitutive activity of OPRM1; it abolishes basal and attenuates agonist-stimulated G-protein coupling. Interacts with FLNA, PLD2, RANBP9 and WLS. Interacts with GPM6A, RTP4, SYP, GNAS, RGS9, RGS17, RGS20, RGS4, PPP1R9B and HINT1 (By similarity). {ECO 0000250}. # TCDB 9.A.14.13.18 the g-protein-coupled receptor (gpcr) family # TISSUE SPECIFICITY Expressed in brain. Isoform 16 and isoform 17 are detected in brain. {ECO:0000269|PubMed 16580639}. # UCSC uc003qpn human. [P35372-1] # WEB RESOURCE OPRM_HUMAN Name=NIEHS-SNPs; URL="http //egp.gs.washington.edu/data/oprm1/"; # WEB RESOURCE OPRM_HUMAN Name=Wikipedia; Note=Mu opioid receptor entry; URL="https //en.wikipedia.org/wiki/Mu_opioid_receptor"; # eggNOG ENOG410XRW9 LUCA # eggNOG KOG3656 Eukaryota BLAST swissprot:OPRM_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:OPRM_HUMAN BioCyc ZFISH:ENSG00000112038-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000112038-MONOMER COXPRESdb 4988 http://coxpresdb.jp/data/gene/4988.shtml CleanEx HS_OPRM1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_OPRM1 DOI 10.1006/bbrc.1995.2709 http://dx.doi.org/10.1006/bbrc.1995.2709 DOI 10.1006/excr.2002.5638 http://dx.doi.org/10.1006/excr.2002.5638 DOI 10.1007/s00018-009-0008-4 http://dx.doi.org/10.1007/s00018-009-0008-4 DOI 10.1016/0014-5793(94)01129-X http://dx.doi.org/10.1016/0014-5793(94)01129-X DOI 10.1016/0014-5793(94)80368-4 http://dx.doi.org/10.1016/0014-5793(94)80368-4 DOI 10.1016/S0006-291X(03)00089-5 http://dx.doi.org/10.1016/S0006-291X(03)00089-5 DOI 10.1016/S0169-328X(99)00241-7 http://dx.doi.org/10.1016/S0169-328X(99)00241-7 DOI 10.1016/j.bbrc.2006.03.084 http://dx.doi.org/10.1016/j.bbrc.2006.03.084 DOI 10.1016/j.brainres.2006.01.125 http://dx.doi.org/10.1016/j.brainres.2006.01.125 DOI 10.1016/j.neulet.2009.09.048 http://dx.doi.org/10.1016/j.neulet.2009.09.048 DOI 10.1016/j.neuroscience.2004.12.033 http://dx.doi.org/10.1016/j.neuroscience.2004.12.033 DOI 10.1038/nature02055 http://dx.doi.org/10.1038/nature02055 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1038/sj.mp.4000331 http://dx.doi.org/10.1038/sj.mp.4000331 DOI 10.1046/j.1471-4159.2000.0750763.x http://dx.doi.org/10.1046/j.1471-4159.2000.0750763.x DOI 10.1046/j.1471-4159.2002.00946.x http://dx.doi.org/10.1046/j.1471-4159.2002.00946.x DOI 10.1073/pnas.95.16.9608 http://dx.doi.org/10.1073/pnas.95.16.9608 DOI 10.1073/pnas.96.14.7752 http://dx.doi.org/10.1073/pnas.96.14.7752 DOI 10.1074/jbc.274.31.22081 http://dx.doi.org/10.1074/jbc.274.31.22081 DOI 10.1074/jbc.M206709200 http://dx.doi.org/10.1074/jbc.M206709200 DOI 10.1074/jbc.M305866200 http://dx.doi.org/10.1074/jbc.M305866200 DOI 10.1074/jbc.M606946200 http://dx.doi.org/10.1074/jbc.M606946200 DOI 10.1093/hmg/ddn439 http://dx.doi.org/10.1093/hmg/ddn439 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1471-4159.2008.05833.x http://dx.doi.org/10.1111/j.1471-4159.2008.05833.x DOI 10.1124/mol.104.010272 http://dx.doi.org/10.1124/mol.104.010272 DOI 10.1124/mol.105.013847 http://dx.doi.org/10.1124/mol.105.013847 DOI 10.1124/mol.64.5.1092 http://dx.doi.org/10.1124/mol.64.5.1092 DOI 10.1146/annurev.pharmtox.40.1.389 http://dx.doi.org/10.1146/annurev.pharmtox.40.1.389 DOI 10.1186/1471-2202-11-33 http://dx.doi.org/10.1186/1471-2202-11-33 DOI 10.1186/1744-8069-6-33 http://dx.doi.org/10.1186/1744-8069-6-33 DOI 10.4049/jimmunol.170.10.5118 http://dx.doi.org/10.4049/jimmunol.170.10.5118 DisProt DP00272 http://www.disprot.org/protein.php?id=DP00272 DrugBank DB00193 http://www.drugbank.ca/drugs/DB00193 DrugBank DB00295 http://www.drugbank.ca/drugs/DB00295 DrugBank DB00318 http://www.drugbank.ca/drugs/DB00318 DrugBank DB00321 http://www.drugbank.ca/drugs/DB00321 DrugBank DB00327 http://www.drugbank.ca/drugs/DB00327 DrugBank DB00333 http://www.drugbank.ca/drugs/DB00333 DrugBank DB00454 http://www.drugbank.ca/drugs/DB00454 DrugBank DB00497 http://www.drugbank.ca/drugs/DB00497 DrugBank DB00504 http://www.drugbank.ca/drugs/DB00504 DrugBank DB00514 http://www.drugbank.ca/drugs/DB00514 DrugBank DB00611 http://www.drugbank.ca/drugs/DB00611 DrugBank DB00647 http://www.drugbank.ca/drugs/DB00647 DrugBank DB00652 http://www.drugbank.ca/drugs/DB00652 DrugBank DB00704 http://www.drugbank.ca/drugs/DB00704 DrugBank DB00708 http://www.drugbank.ca/drugs/DB00708 DrugBank DB00802 http://www.drugbank.ca/drugs/DB00802 DrugBank DB00813 http://www.drugbank.ca/drugs/DB00813 DrugBank DB00836 http://www.drugbank.ca/drugs/DB00836 DrugBank DB00844 http://www.drugbank.ca/drugs/DB00844 DrugBank DB00854 http://www.drugbank.ca/drugs/DB00854 DrugBank DB00899 http://www.drugbank.ca/drugs/DB00899 DrugBank DB00904 http://www.drugbank.ca/drugs/DB00904 DrugBank DB00913 http://www.drugbank.ca/drugs/DB00913 DrugBank DB00921 http://www.drugbank.ca/drugs/DB00921 DrugBank DB00956 http://www.drugbank.ca/drugs/DB00956 DrugBank DB01081 http://www.drugbank.ca/drugs/DB01081 DrugBank DB01183 http://www.drugbank.ca/drugs/DB01183 DrugBank DB01192 http://www.drugbank.ca/drugs/DB01192 DrugBank DB01209 http://www.drugbank.ca/drugs/DB01209 DrugBank DB01221 http://www.drugbank.ca/drugs/DB01221 DrugBank DB01227 http://www.drugbank.ca/drugs/DB01227 DrugBank DB01433 http://www.drugbank.ca/drugs/DB01433 DrugBank DB01452 http://www.drugbank.ca/drugs/DB01452 DrugBank DB01466 http://www.drugbank.ca/drugs/DB01466 DrugBank DB06204 http://www.drugbank.ca/drugs/DB06204 DrugBank DB06274 http://www.drugbank.ca/drugs/DB06274 DrugBank DB06738 http://www.drugbank.ca/drugs/DB06738 DrugBank DB06800 http://www.drugbank.ca/drugs/DB06800 DrugBank DB09049 http://www.drugbank.ca/drugs/DB09049 DrugBank DB09272 http://www.drugbank.ca/drugs/DB09272 EMBL AF153500 http://www.ebi.ac.uk/ena/data/view/AF153500 EMBL AK313901 http://www.ebi.ac.uk/ena/data/view/AK313901 EMBL AL132774 http://www.ebi.ac.uk/ena/data/view/AL132774 EMBL AL136444 http://www.ebi.ac.uk/ena/data/view/AL136444 EMBL AL445220 http://www.ebi.ac.uk/ena/data/view/AL445220 EMBL AY036622 http://www.ebi.ac.uk/ena/data/view/AY036622 EMBL AY036623 http://www.ebi.ac.uk/ena/data/view/AY036623 EMBL AY195733 http://www.ebi.ac.uk/ena/data/view/AY195733 EMBL AY225404 http://www.ebi.ac.uk/ena/data/view/AY225404 EMBL AY292290 http://www.ebi.ac.uk/ena/data/view/AY292290 EMBL AY292291 http://www.ebi.ac.uk/ena/data/view/AY292291 EMBL AY309001 http://www.ebi.ac.uk/ena/data/view/AY309001 EMBL AY309005 http://www.ebi.ac.uk/ena/data/view/AY309005 EMBL AY309006 http://www.ebi.ac.uk/ena/data/view/AY309006 EMBL AY309007 http://www.ebi.ac.uk/ena/data/view/AY309007 EMBL AY309008 http://www.ebi.ac.uk/ena/data/view/AY309008 EMBL AY309009 http://www.ebi.ac.uk/ena/data/view/AY309009 EMBL AY364230 http://www.ebi.ac.uk/ena/data/view/AY364230 EMBL AY364890 http://www.ebi.ac.uk/ena/data/view/AY364890 EMBL AY521028 http://www.ebi.ac.uk/ena/data/view/AY521028 EMBL AY587764 http://www.ebi.ac.uk/ena/data/view/AY587764 EMBL BC074927 http://www.ebi.ac.uk/ena/data/view/BC074927 EMBL CH471051 http://www.ebi.ac.uk/ena/data/view/CH471051 EMBL EU340241 http://www.ebi.ac.uk/ena/data/view/EU340241 EMBL EU340242 http://www.ebi.ac.uk/ena/data/view/EU340242 EMBL EU340243 http://www.ebi.ac.uk/ena/data/view/EU340243 EMBL EU360599 http://www.ebi.ac.uk/ena/data/view/EU360599 EMBL EU362990 http://www.ebi.ac.uk/ena/data/view/EU362990 EMBL FJ041292 http://www.ebi.ac.uk/ena/data/view/FJ041292 EMBL FJ041293 http://www.ebi.ac.uk/ena/data/view/FJ041293 EMBL FJ041294 http://www.ebi.ac.uk/ena/data/view/FJ041294 EMBL HQ699462 http://www.ebi.ac.uk/ena/data/view/HQ699462 EMBL L25119 http://www.ebi.ac.uk/ena/data/view/L25119 EMBL L29301 http://www.ebi.ac.uk/ena/data/view/L29301 EMBL U12569 http://www.ebi.ac.uk/ena/data/view/U12569 Ensembl ENST00000229768 http://www.ensembl.org/id/ENST00000229768 Ensembl ENST00000330432 http://www.ensembl.org/id/ENST00000330432 Ensembl ENST00000337049 http://www.ensembl.org/id/ENST00000337049 Ensembl ENST00000414028 http://www.ensembl.org/id/ENST00000414028 Ensembl ENST00000419506 http://www.ensembl.org/id/ENST00000419506 Ensembl ENST00000428397 http://www.ensembl.org/id/ENST00000428397 Ensembl ENST00000434900 http://www.ensembl.org/id/ENST00000434900 Ensembl ENST00000435918 http://www.ensembl.org/id/ENST00000435918 Ensembl ENST00000452687 http://www.ensembl.org/id/ENST00000452687 Ensembl ENST00000518759 http://www.ensembl.org/id/ENST00000518759 Ensembl ENST00000519083 http://www.ensembl.org/id/ENST00000519083 Ensembl ENST00000520708 http://www.ensembl.org/id/ENST00000520708 Ensembl ENST00000522236 http://www.ensembl.org/id/ENST00000522236 Ensembl ENST00000522555 http://www.ensembl.org/id/ENST00000522555 Ensembl ENST00000522739 http://www.ensembl.org/id/ENST00000522739 Ensembl ENST00000524150 http://www.ensembl.org/id/ENST00000524150 Ensembl ENST00000524163 http://www.ensembl.org/id/ENST00000524163 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005623 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005623 GO_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GO_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0005925 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005925 GO_component GO:0032590 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032590 GO_component GO:0032839 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032839 GO_component GO:0042383 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042383 GO_component GO:0043005 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043005 GO_component GO:0043204 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043204 GO_component GO:0045121 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045121 GO_component GO:0098794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0098794 GO_function GO:0001965 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001965 GO_function GO:0004930 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004930 GO_function GO:0004979 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004979 GO_function GO:0005245 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005245 GO_function GO:0031681 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031681 GO_function GO:0038047 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0038047 GO_function GO:0042923 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042923 GO_process GO:0002438 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002438 GO_process GO:0007187 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007187 GO_process GO:0007191 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007191 GO_process GO:0007194 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007194 GO_process GO:0007200 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007200 GO_process GO:0007204 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007204 GO_process GO:0007268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007268 GO_process GO:0007600 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007600 GO_process GO:0007626 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007626 GO_process GO:0008285 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008285 GO_process GO:0009314 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009314 GO_process GO:0019233 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019233 GO_process GO:0031635 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031635 GO_process GO:0032094 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032094 GO_process GO:0032100 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032100 GO_process GO:0032496 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032496 GO_process GO:0033554 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033554 GO_process GO:0042060 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042060 GO_process GO:0042220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042220 GO_process GO:0042755 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042755 GO_process GO:0043950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043950 GO_process GO:0043951 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043951 GO_process GO:0044849 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044849 GO_process GO:0045019 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045019 GO_process GO:0045429 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045429 GO_process GO:0048149 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048149 GO_process GO:0050769 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050769 GO_process GO:0051481 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051481 GO_process GO:0051930 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051930 GO_process GO:0060079 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060079 GO_process GO:0061358 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061358 GO_process GO:0070374 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070374 GO_process GO:0070848 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070848 GO_process GO:0071315 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071315 GO_process GO:2000310 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000310 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005623 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005623 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0002376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002376 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GeneCards OPRM1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=OPRM1 GeneID 4988 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=4988 GeneTree ENSGT00760000118797 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118797 HGNC HGNC:8156 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:8156 HOGENOM HOG000230486 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000230486&db=HOGENOM6 HOVERGEN HBG106919 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG106919&db=HOVERGEN HPA HPA014509 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA014509 HPA HPA067435 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA067435 InParanoid P35372 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P35372 IntAct P35372 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P35372* InterPro IPR000105 http://www.ebi.ac.uk/interpro/entry/IPR000105 InterPro IPR000276 http://www.ebi.ac.uk/interpro/entry/IPR000276 InterPro IPR001418 http://www.ebi.ac.uk/interpro/entry/IPR001418 InterPro IPR017452 http://www.ebi.ac.uk/interpro/entry/IPR017452 Jabion 4988 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=4988 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04030 http://www.genome.jp/dbget-bin/www_bget?ko04030 KEGG_Disease H01611 http://www.genome.jp/dbget-bin/www_bget?H01611 KEGG_Gene hsa:4988 http://www.genome.jp/dbget-bin/www_bget?hsa:4988 KEGG_Orthology KO:K04215 http://www.genome.jp/dbget-bin/www_bget?KO:K04215 KEGG_Pathway ko04080 http://www.genome.jp/kegg-bin/show_pathway?ko04080 KEGG_Pathway ko05032 http://www.genome.jp/kegg-bin/show_pathway?ko05032 MIM 600018 http://www.ncbi.nlm.nih.gov/omim/600018 MINT MINT-100121 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-100121 OMA NSTRVRQ http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=NSTRVRQ OrthoDB EOG091G0HEN http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0HEN PRINTS PR00237 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00237 PRINTS PR00384 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00384 PRINTS PR00537 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00537 PROSITE PS00237 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00237 PROSITE PS50262 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50262 PSORT swissprot:OPRM_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:OPRM_HUMAN PSORT-B swissprot:OPRM_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:OPRM_HUMAN PSORT2 swissprot:OPRM_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:OPRM_HUMAN Pfam PF00001 http://pfam.xfam.org/family/PF00001 PharmGKB PA31945 http://www.pharmgkb.org/do/serve?objId=PA31945&objCls=Gene Phobius swissprot:OPRM_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:OPRM_HUMAN PhylomeDB P35372 http://phylomedb.org/?seqid=P35372 ProteinModelPortal P35372 http://www.proteinmodelportal.org/query/uniprot/P35372 PubMed 10393893 http://www.ncbi.nlm.nih.gov/pubmed/10393893 PubMed 10419536 http://www.ncbi.nlm.nih.gov/pubmed/10419536 PubMed 10529478 http://www.ncbi.nlm.nih.gov/pubmed/10529478 PubMed 10836142 http://www.ncbi.nlm.nih.gov/pubmed/10836142 PubMed 10899953 http://www.ncbi.nlm.nih.gov/pubmed/10899953 PubMed 12068084 http://www.ncbi.nlm.nih.gov/pubmed/12068084 PubMed 12413885 http://www.ncbi.nlm.nih.gov/pubmed/12413885 PubMed 12519790 http://www.ncbi.nlm.nih.gov/pubmed/12519790 PubMed 12589820 http://www.ncbi.nlm.nih.gov/pubmed/12589820 PubMed 12734358 http://www.ncbi.nlm.nih.gov/pubmed/12734358 PubMed 12810704 http://www.ncbi.nlm.nih.gov/pubmed/12810704 PubMed 14573758 http://www.ncbi.nlm.nih.gov/pubmed/14573758 PubMed 14574404 http://www.ncbi.nlm.nih.gov/pubmed/14574404 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15778451 http://www.ncbi.nlm.nih.gov/pubmed/15778451 PubMed 15893644 http://www.ncbi.nlm.nih.gov/pubmed/15893644 PubMed 15967873 http://www.ncbi.nlm.nih.gov/pubmed/15967873 PubMed 16542645 http://www.ncbi.nlm.nih.gov/pubmed/16542645 PubMed 16580639 http://www.ncbi.nlm.nih.gov/pubmed/16580639 PubMed 17224450 http://www.ncbi.nlm.nih.gov/pubmed/17224450 PubMed 19077058 http://www.ncbi.nlm.nih.gov/pubmed/19077058 PubMed 19103668 http://www.ncbi.nlm.nih.gov/pubmed/19103668 PubMed 19300905 http://www.ncbi.nlm.nih.gov/pubmed/19300905 PubMed 19788913 http://www.ncbi.nlm.nih.gov/pubmed/19788913 PubMed 20214800 http://www.ncbi.nlm.nih.gov/pubmed/20214800 PubMed 20525224 http://www.ncbi.nlm.nih.gov/pubmed/20525224 PubMed 7488213 http://www.ncbi.nlm.nih.gov/pubmed/7488213 PubMed 7891175 http://www.ncbi.nlm.nih.gov/pubmed/7891175 PubMed 7905839 http://www.ncbi.nlm.nih.gov/pubmed/7905839 PubMed 7957926 http://www.ncbi.nlm.nih.gov/pubmed/7957926 PubMed 9399694 http://www.ncbi.nlm.nih.gov/pubmed/9399694 PubMed 9689128 http://www.ncbi.nlm.nih.gov/pubmed/9689128 Reactome R-HSA-111885 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-111885 Reactome R-HSA-202040 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-202040 Reactome R-HSA-375276 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-375276 Reactome R-HSA-418594 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-418594 RefSeq NP_000905 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000905 RefSeq NP_001008503 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001008503 RefSeq NP_001008504 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001008504 RefSeq NP_001008505 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001008505 RefSeq NP_001138751 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001138751 RefSeq NP_001138752 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001138752 RefSeq NP_001138753 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001138753 RefSeq NP_001138754 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001138754 RefSeq NP_001138755 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001138755 RefSeq NP_001138756 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001138756 RefSeq NP_001138757 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001138757 RefSeq NP_001138758 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001138758 RefSeq NP_001138759 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001138759 RefSeq NP_001272452 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001272452 RefSeq NP_001272453 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001272453 RefSeq NP_001272455 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001272455 RefSeq NP_001272456 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001272456 RefSeq NP_001272457 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001272457 RefSeq XP_016866395 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016866395 SMR P35372 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P35372 STRING 9606.ENSP00000394624 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000394624&targetmode=cogs TCDB 9.A.14.13.18 http://www.tcdb.org/search/result.php?tc=9.A.14.13.18 UCSC uc003qpn http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003qpn&org=rat UniGene Hs.2353 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.2353 UniProtKB OPRM_HUMAN http://www.uniprot.org/uniprot/OPRM_HUMAN UniProtKB-AC P35372 http://www.uniprot.org/uniprot/P35372 charge swissprot:OPRM_HUMAN http://rest.g-language.org/emboss/charge/swissprot:OPRM_HUMAN eggNOG ENOG410XRW9 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XRW9 eggNOG KOG3656 http://eggnogapi.embl.de/nog_data/html/tree/KOG3656 epestfind swissprot:OPRM_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:OPRM_HUMAN garnier swissprot:OPRM_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:OPRM_HUMAN helixturnhelix swissprot:OPRM_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:OPRM_HUMAN hmoment swissprot:OPRM_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:OPRM_HUMAN iep swissprot:OPRM_HUMAN http://rest.g-language.org/emboss/iep/swissprot:OPRM_HUMAN inforesidue swissprot:OPRM_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:OPRM_HUMAN neXtProt NX_P35372 http://www.nextprot.org/db/entry/NX_P35372 octanol swissprot:OPRM_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:OPRM_HUMAN pepcoil swissprot:OPRM_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:OPRM_HUMAN pepdigest swissprot:OPRM_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:OPRM_HUMAN pepinfo swissprot:OPRM_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:OPRM_HUMAN pepnet swissprot:OPRM_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:OPRM_HUMAN pepstats swissprot:OPRM_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:OPRM_HUMAN pepwheel swissprot:OPRM_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:OPRM_HUMAN pepwindow swissprot:OPRM_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:OPRM_HUMAN sigcleave swissprot:OPRM_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:OPRM_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS KCIP4_HUMAN Event=Alternative splicing; Named isoforms=5; Name=1; Synonyms=KChIP4.1; IsoId=Q6PIL6-1; Sequence=Displayed; Name=2; Synonyms=KChIP4.2; IsoId=Q6PIL6-2; Sequence=VSP_015068; Name=3; Synonyms=KChIP4bs, KCHIP4.2; IsoId=Q6PIL6-3; Sequence=VSP_015066; Name=4; Synonyms=KChIP4a, KChIP4.4; IsoId=Q6PIL6-4; Sequence=VSP_015067; Name=5; IsoId=Q6PIL6-5; Sequence=VSP_043321; # AltName Calsenilin-like protein {ECO:0000303|PubMed 11847232} # AltName KCIP4_HUMAN A-type potassium channel modulatory protein 4 # AltName KCIP4_HUMAN Potassium channel-interacting protein 4 # BioGrid 123244 15 # CCDS CCDS3428 -. [Q6PIL6-4] # CCDS CCDS43215 -. [Q6PIL6-2] # CCDS CCDS43216 -. [Q6PIL6-1] # CCDS CCDS43217 -. [Q6PIL6-5] # CCDS CCDS47035 -. [Q6PIL6-3] # CDD cd00051 EFh; 2 # ChiTaRS KCNIP4 human # DOMAIN KCIP4_HUMAN The KIS (K-channel inactivation suppressor) domain is required for converting A-type Kv4 current to a slowly inactivating delayed rectifier potassium current. {ECO 0000250}. # Ensembl ENST00000359001 ENSP00000351892; ENSG00000185774. [Q6PIL6-3] # Ensembl ENST00000382148 ENSP00000371583; ENSG00000185774. [Q6PIL6-5] # Ensembl ENST00000382150 ENSP00000371585; ENSG00000185774. [Q6PIL6-4] # Ensembl ENST00000382152 ENSP00000371587; ENSG00000185774. [Q6PIL6-1] # Ensembl ENST00000447367 ENSP00000399080; ENSG00000185774. [Q6PIL6-2] # Ensembl ENST00000509207 ENSP00000423257; ENSG00000185774. [Q6PIL6-3] # ExpressionAtlas Q6PIL6 baseline and differential # FUNCTION KCIP4_HUMAN Regulatory subunit of Kv4/D (Shal)-type voltage-gated rapidly inactivating A-type potassium channels. Modulates KCND2 channel density, inactivation kinetics and rate of recovery from inactivation in a calcium-dependent and isoform-specific manner (PubMed 11847232, PubMed 18957440, PubMed 23576435). Modulates KCND3/Kv4.3 currents (PubMed 23576435). Isoform 4 does not increase KCND2 expression at the cell membrane (PubMed 18957440). Isoform 4 retains KCND3 in the endoplasmic reticulum and negatively regulates its expression at the cell membrane. {ECO 0000250|UniProtKB Q6PHZ8, ECO 0000269|PubMed 11847232, ECO 0000269|PubMed 18957440, ECO 0000269|PubMed 23576435}. # GO_component GO:0005737 cytoplasm; IDA:UniProtKB. # GO_component GO:0005783 endoplasmic reticulum; IEA:UniProtKB-SubCell. # GO_component GO:0005829 cytosol; ISS:UniProtKB. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0008076 voltage-gated potassium channel complex; ISS:UniProtKB. # GO_function GO:0005244 voltage-gated ion channel activity; IEA:UniProtKB-KW. # GO_function GO:0005267 potassium channel activity; IEA:UniProtKB-KW. # GO_function GO:0005509 calcium ion binding; IDA:UniProtKB. # GO_function GO:0015459 potassium channel regulator activity; ISS:UniProtKB. # GO_process GO:0061337 cardiac conduction; TAS:Reactome. # GO_process GO:0072659 protein localization to plasma membrane; ISS:UniProtKB. # GO_process GO:1901379 regulation of potassium ion transmembrane transport; ISS:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_component GO:0005829 cytosol # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0007009 plasma membrane organization # GOslim_process GO:0008150 biological_process # Gene3D 1.10.238.10 -; 3. # Genevisible Q6PIL6 HS # HGNC HGNC:30083 KCNIP4 # InterPro IPR002048 EF_hand_dom # InterPro IPR011992 EF-hand-dom_pair # InterPro IPR018247 EF_Hand_1_Ca_BS # InterPro IPR028846 Recoverin # MIM 608182 gene # Organism KCIP4_HUMAN Homo sapiens (Human) # PANTHER PTHR23055 PTHR23055 # PROSITE PS00018 EF_HAND_1; 3 # PROSITE PS50222 EF_HAND_2; 3 # Pfam PF13499 EF-hand_7 # Pfam PF13833 EF-hand_8 # Proteomes UP000005640 Chromosome 4 # Reactome R-HSA-5576894 Phase 1 - inactivation of fast Na+ channels # RecName KCIP4_HUMAN Kv channel-interacting protein 4 # RefSeq NP_001030175 NM_001035003.1. [Q6PIL6-5] # RefSeq NP_001030176 NM_001035004.1. [Q6PIL6-3] # RefSeq NP_079497 NM_025221.5. [Q6PIL6-1] # RefSeq NP_671710 NM_147181.3. [Q6PIL6-2] # RefSeq NP_671711 NM_147182.3. [Q6PIL6-3] # RefSeq NP_671712 NM_147183.3. [Q6PIL6-4] # RefSeq XP_016864142 XM_017008653.1. [Q6PIL6-3] # SIMILARITY Belongs to the recoverin family. {ECO 0000305}. # SIMILARITY Contains 4 EF-hand domains. {ECO:0000255|PROSITE- ProRule PRU00448}. # SMART SM00054 EFh; 3 # SUBCELLULAR LOCATION KCIP4_HUMAN Cell membrane {ECO 0000269|PubMed 11847232}; Peripheral membrane protein {ECO 0000305|PubMed 11847232}. Cytoplasm {ECO 0000269|PubMed 11847232, ECO 0000269|PubMed 23576435}. # SUBCELLULAR LOCATION KCIP4_HUMAN Isoform 4 Endoplasmic reticulum {ECO 0000269|PubMed 23576435}. # SUBUNIT KCIP4_HUMAN Component of heteromultimeric potassium channels (PubMed 23576435). Identified in potassium channel complexes containing KCND1, KCND2, KCND3, KCNIP1, KCNIP2, KCNIP3, KCNIP4, DPP6 and DPP10 (By similarity). Interacts with KCND2 (PubMed 11847232, PubMed 18957440). Interacts with KCND3 (By similarity). Interacts with the C-terminus of PSEN2 and probably PSEN1 (PubMed 11847232). {ECO 0000250|UniProtKB Q6PHZ8, ECO 0000269|PubMed 11847232, ECO 0000269|PubMed 18957440, ECO 0000269|PubMed 23576435, ECO 0000269|PubMed 24811166}. # SUPFAM SSF47473 SSF47473 # TCDB 5.B.1.2 the phagocyte (gp91(phox)) nadph oxidase family # TISSUE SPECIFICITY Predominantly expressed in brain. {ECO:0000269|PubMed 11847232}. # UCSC uc003gqf human. [Q6PIL6-1] # eggNOG COG5126 LUCA # eggNOG KOG0044 Eukaryota BLAST swissprot:KCIP4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCIP4_HUMAN BioCyc ZFISH:G66-32335-MONOMER http://biocyc.org/getid?id=ZFISH:G66-32335-MONOMER COXPRESdb 80333 http://coxpresdb.jp/data/gene/80333.shtml CleanEx HS_KCNIP4 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNIP4 DOI 10.1016/j.ygeno.2005.07.001 http://dx.doi.org/10.1016/j.ygeno.2005.07.001 DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.022509299 http://dx.doi.org/10.1073/pnas.022509299 DOI 10.1074/jbc.M113.466052 http://dx.doi.org/10.1074/jbc.M113.466052 DOI 10.1074/jbc.M114.563452 http://dx.doi.org/10.1074/jbc.M114.563452 DOI 10.1074/jbc.M200897200 http://dx.doi.org/10.1074/jbc.M200897200 DOI 10.1074/jbc.M806852200 http://dx.doi.org/10.1074/jbc.M806852200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AC096576 http://www.ebi.ac.uk/ena/data/view/AC096576 EMBL AC097505 http://www.ebi.ac.uk/ena/data/view/AC097505 EMBL AC098597 http://www.ebi.ac.uk/ena/data/view/AC098597 EMBL AC104065 http://www.ebi.ac.uk/ena/data/view/AC104065 EMBL AC107462 http://www.ebi.ac.uk/ena/data/view/AC107462 EMBL AC108147 http://www.ebi.ac.uk/ena/data/view/AC108147 EMBL AC109360 http://www.ebi.ac.uk/ena/data/view/AC109360 EMBL AC109636 http://www.ebi.ac.uk/ena/data/view/AC109636 EMBL AC110296 http://www.ebi.ac.uk/ena/data/view/AC110296 EMBL AC110612 http://www.ebi.ac.uk/ena/data/view/AC110612 EMBL AC113606 http://www.ebi.ac.uk/ena/data/view/AC113606 EMBL AC116641 http://www.ebi.ac.uk/ena/data/view/AC116641 EMBL AF302044 http://www.ebi.ac.uk/ena/data/view/AF302044 EMBL AF305072 http://www.ebi.ac.uk/ena/data/view/AF305072 EMBL AF367023 http://www.ebi.ac.uk/ena/data/view/AF367023 EMBL AF367024 http://www.ebi.ac.uk/ena/data/view/AF367024 EMBL AF453246 http://www.ebi.ac.uk/ena/data/view/AF453246 EMBL AK289922 http://www.ebi.ac.uk/ena/data/view/AK289922 EMBL AY029176 http://www.ebi.ac.uk/ena/data/view/AY029176 EMBL AY118170 http://www.ebi.ac.uk/ena/data/view/AY118170 EMBL BC032520 http://www.ebi.ac.uk/ena/data/view/BC032520 EMBL CH471069 http://www.ebi.ac.uk/ena/data/view/CH471069 EMBL DQ148487 http://www.ebi.ac.uk/ena/data/view/DQ148487 EMBL DQ148488 http://www.ebi.ac.uk/ena/data/view/DQ148488 EMBL DQ148489 http://www.ebi.ac.uk/ena/data/view/DQ148489 EMBL DQ148490 http://www.ebi.ac.uk/ena/data/view/DQ148490 EMBL DQ148491 http://www.ebi.ac.uk/ena/data/view/DQ148491 Ensembl ENST00000359001 http://www.ensembl.org/id/ENST00000359001 Ensembl ENST00000382148 http://www.ensembl.org/id/ENST00000382148 Ensembl ENST00000382150 http://www.ensembl.org/id/ENST00000382150 Ensembl ENST00000382152 http://www.ensembl.org/id/ENST00000382152 Ensembl ENST00000447367 http://www.ensembl.org/id/ENST00000447367 Ensembl ENST00000509207 http://www.ensembl.org/id/ENST00000509207 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0008076 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008076 GO_function GO:0005244 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005244 GO_function GO:0005267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005267 GO_function GO:0005509 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005509 GO_function GO:0015459 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015459 GO_process GO:0061337 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061337 GO_process GO:0072659 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0072659 GO_process GO:1901379 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1901379 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0007009 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007009 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 Gene3D 1.10.238.10 http://www.cathdb.info/version/latest/superfamily/1.10.238.10 GeneCards KCNIP4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNIP4 GeneID 80333 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=80333 GeneTree ENSGT00760000118820 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118820 H-InvDB HIX0120159 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0120159 HGNC HGNC:30083 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:30083 HOGENOM HOG000233019 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000233019&db=HOGENOM6 HOVERGEN HBG108179 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG108179&db=HOVERGEN HPA HPA022862 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA022862 InParanoid Q6PIL6 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q6PIL6 IntAct Q6PIL6 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q6PIL6* InterPro IPR002048 http://www.ebi.ac.uk/interpro/entry/IPR002048 InterPro IPR011992 http://www.ebi.ac.uk/interpro/entry/IPR011992 InterPro IPR018247 http://www.ebi.ac.uk/interpro/entry/IPR018247 InterPro IPR028846 http://www.ebi.ac.uk/interpro/entry/IPR028846 Jabion 80333 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=80333 KEGG_Gene hsa:80333 http://www.genome.jp/dbget-bin/www_bget?hsa:80333 MIM 608182 http://www.ncbi.nlm.nih.gov/omim/608182 OMA DTVEDEM http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=DTVEDEM OrthoDB EOG091G11T4 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G11T4 PANTHER PTHR23055 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR23055 PROSITE PS00018 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00018 PROSITE PS50222 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50222 PSORT swissprot:KCIP4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCIP4_HUMAN PSORT-B swissprot:KCIP4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCIP4_HUMAN PSORT2 swissprot:KCIP4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCIP4_HUMAN Pfam PF13499 http://pfam.xfam.org/family/PF13499 Pfam PF13833 http://pfam.xfam.org/family/PF13833 PharmGKB PA134893552 http://www.pharmgkb.org/do/serve?objId=PA134893552&objCls=Gene Phobius swissprot:KCIP4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCIP4_HUMAN PhylomeDB Q6PIL6 http://phylomedb.org/?seqid=Q6PIL6 ProteinModelPortal Q6PIL6 http://www.proteinmodelportal.org/query/uniprot/Q6PIL6 PubMed 11805342 http://www.ncbi.nlm.nih.gov/pubmed/11805342 PubMed 11847232 http://www.ncbi.nlm.nih.gov/pubmed/11847232 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 PubMed 16112838 http://www.ncbi.nlm.nih.gov/pubmed/16112838 PubMed 18957440 http://www.ncbi.nlm.nih.gov/pubmed/18957440 PubMed 23576435 http://www.ncbi.nlm.nih.gov/pubmed/23576435 PubMed 24811166 http://www.ncbi.nlm.nih.gov/pubmed/24811166 Reactome R-HSA-5576894 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576894 RefSeq NP_001030175 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001030175 RefSeq NP_001030176 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001030176 RefSeq NP_079497 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_079497 RefSeq NP_671710 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_671710 RefSeq NP_671711 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_671711 RefSeq NP_671712 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_671712 RefSeq XP_016864142 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016864142 SMART SM00054 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00054 SMR Q6PIL6 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q6PIL6 STRING 9606.ENSP00000371587 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000371587&targetmode=cogs SUPFAM SSF47473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF47473 TCDB 5.B.1.2 http://www.tcdb.org/search/result.php?tc=5.B.1.2 UCSC uc003gqf http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003gqf&org=rat UniGene Hs.655705 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.655705 UniProtKB KCIP4_HUMAN http://www.uniprot.org/uniprot/KCIP4_HUMAN UniProtKB-AC Q6PIL6 http://www.uniprot.org/uniprot/Q6PIL6 charge swissprot:KCIP4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCIP4_HUMAN eggNOG COG5126 http://eggnogapi.embl.de/nog_data/html/tree/COG5126 eggNOG KOG0044 http://eggnogapi.embl.de/nog_data/html/tree/KOG0044 epestfind swissprot:KCIP4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCIP4_HUMAN garnier swissprot:KCIP4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCIP4_HUMAN helixturnhelix swissprot:KCIP4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCIP4_HUMAN hmoment swissprot:KCIP4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCIP4_HUMAN iep swissprot:KCIP4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCIP4_HUMAN inforesidue swissprot:KCIP4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCIP4_HUMAN neXtProt NX_Q6PIL6 http://www.nextprot.org/db/entry/NX_Q6PIL6 octanol swissprot:KCIP4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCIP4_HUMAN pepcoil swissprot:KCIP4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCIP4_HUMAN pepdigest swissprot:KCIP4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCIP4_HUMAN pepinfo swissprot:KCIP4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCIP4_HUMAN pepnet swissprot:KCIP4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCIP4_HUMAN pepstats swissprot:KCIP4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCIP4_HUMAN pepwheel swissprot:KCIP4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCIP4_HUMAN pepwindow swissprot:KCIP4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCIP4_HUMAN sigcleave swissprot:KCIP4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCIP4_HUMAN ## Database ID URL or Descriptions # CAUTION Could be the product of a pseudogene. {ECO 0000305}. # CDD cd00333 MIP # DOMAIN AQP73_HUMAN Aquaporins contain two tandem repeats each containing three membrane-spanning domains and a pore-forming loop with the signature motif Asn-Pro/Ala-Ala/Ser (NPA). # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0015204 urea transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015250 water channel activity; IBA:GO_Central. # GO_function GO:0015254 glycerol channel activity; IBA:GO_Central. # GO_process GO:0009992 cellular water homeostasis; IBA:GO_Central. # GO_process GO:0034219 carbohydrate transmembrane transport; IBA:GO_Central. # GO_process GO:0034220 ion transmembrane transport; IBA:GO_Central. # GO_process GO:0071918 urea transmembrane transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0043226 organelle # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.20.1080.10 -; 1. # HGNC HGNC:31976 AQP7P3 # InterPro IPR000425 MIP # InterPro IPR015686 Aquaporin_7 # InterPro IPR023271 Aquaporin-like # Organism AQP73_HUMAN Homo sapiens (Human) # PANTHER PTHR19139 PTHR19139 # PANTHER PTHR19139:SF16 PTHR19139:SF16 # PRINTS PR00783 MINTRINSICP # Pfam PF00230 MIP # Proteomes UP000005640 Unplaced # RecName AQP73_HUMAN Putative aquaporin-7-like protein 3 # SIMILARITY Belongs to the MIP/aquaporin (TC 1.A.8) family. {ECO 0000305}. # SUBCELLULAR LOCATION AQP73_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # SUPFAM SSF81338 SSF81338 # TIGRFAMs TIGR00861 MIP BLAST swissprot:AQP73_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:AQP73_HUMAN BioCyc ZFISH:G66-31218-MONOMER http://biocyc.org/getid?id=ZFISH:G66-31218-MONOMER DOI 10.1038/nature02465 http://dx.doi.org/10.1038/nature02465 EMBL AC129778 http://www.ebi.ac.uk/ena/data/view/AC129778 EMBL AL136317 http://www.ebi.ac.uk/ena/data/view/AL136317 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0015204 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015204 GO_function GO:0015250 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015250 GO_function GO:0015254 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015254 GO_process GO:0009992 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009992 GO_process GO:0034219 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034219 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0071918 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071918 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.20.1080.10 http://www.cathdb.info/version/latest/superfamily/1.20.1080.10 GeneCards AQP7P3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=AQP7P3 HGNC HGNC:31976 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:31976 HOVERGEN HBG106057 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG106057&db=HOVERGEN InParanoid A6NL99 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=A6NL99 InterPro IPR000425 http://www.ebi.ac.uk/interpro/entry/IPR000425 InterPro IPR015686 http://www.ebi.ac.uk/interpro/entry/IPR015686 InterPro IPR023271 http://www.ebi.ac.uk/interpro/entry/IPR023271 PANTHER PTHR19139 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR19139 PANTHER PTHR19139:SF16 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR19139:SF16 PRINTS PR00783 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00783 PSORT swissprot:AQP73_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:AQP73_HUMAN PSORT-B swissprot:AQP73_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:AQP73_HUMAN PSORT2 swissprot:AQP73_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:AQP73_HUMAN Pfam PF00230 http://pfam.xfam.org/family/PF00230 Phobius swissprot:AQP73_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:AQP73_HUMAN PhylomeDB A6NL99 http://phylomedb.org/?seqid=A6NL99 ProteinModelPortal A6NL99 http://www.proteinmodelportal.org/query/uniprot/A6NL99 PubMed 15164053 http://www.ncbi.nlm.nih.gov/pubmed/15164053 SUPFAM SSF81338 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81338 TIGRFAMs TIGR00861 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00861 UniGene Hs.743215 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.743215 UniProtKB AQP73_HUMAN http://www.uniprot.org/uniprot/AQP73_HUMAN UniProtKB-AC A6NL99 http://www.uniprot.org/uniprot/A6NL99 charge swissprot:AQP73_HUMAN http://rest.g-language.org/emboss/charge/swissprot:AQP73_HUMAN epestfind swissprot:AQP73_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:AQP73_HUMAN garnier swissprot:AQP73_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:AQP73_HUMAN helixturnhelix swissprot:AQP73_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:AQP73_HUMAN hmoment swissprot:AQP73_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:AQP73_HUMAN iep swissprot:AQP73_HUMAN http://rest.g-language.org/emboss/iep/swissprot:AQP73_HUMAN inforesidue swissprot:AQP73_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:AQP73_HUMAN neXtProt NX_A6NL99 http://www.nextprot.org/db/entry/NX_A6NL99 octanol swissprot:AQP73_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:AQP73_HUMAN pepcoil swissprot:AQP73_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:AQP73_HUMAN pepdigest swissprot:AQP73_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:AQP73_HUMAN pepinfo swissprot:AQP73_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:AQP73_HUMAN pepnet swissprot:AQP73_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:AQP73_HUMAN pepstats swissprot:AQP73_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:AQP73_HUMAN pepwheel swissprot:AQP73_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:AQP73_HUMAN pepwindow swissprot:AQP73_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:AQP73_HUMAN sigcleave swissprot:AQP73_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:AQP73_HUMAN ## Database ID URL or Descriptions # AltName HEPS_HUMAN Transmembrane protease serine 1 # AltName HEPS_HUMAN Transmembrane protease serine 1 # BRENDA 3.4.21.106 2681 # CATALYTIC ACTIVITY HEPS_HUMAN Cleavage after basic amino-acid residues, with Arg strongly preferred to Lys. {ECO 0000269|PubMed 15839837, ECO 0000269|PubMed 21875933, ECO 0000305|PubMed 26673890}. # CDD cd00190 Tryp_SPc # DrugBank DB00036 Coagulation factor VIIa # Ensembl ENST00000262626 ENSP00000262626; ENSG00000105707 # Ensembl ENST00000392226 ENSP00000376060; ENSG00000105707 # ExpressionAtlas P05981 baseline and differential # FUNCTION HEPS_HUMAN Serine protease that cleaves extracellular substrates, and contributes to the proteolytic processing of growth factors, such as HGF and MST1/HGFL (PubMed 21875933, PubMed 15839837). Plays a role in cell growth and maintenance of cell morphology (PubMed 8346233, PubMed 21875933). Plays a role in the proteolytic processing of ACE2 (PubMed 24227843). Mediates the proteolytic cleavage of urinary UMOD that is required for UMOD polymerization (PubMed 26673890). {ECO 0000269|PubMed 15839837, ECO 0000269|PubMed 21875933, ECO 0000269|PubMed 24227843, ECO 0000269|PubMed 26673890, ECO 0000269|PubMed 8346233}. # GO_component GO:0005789 endoplasmic reticulum membrane; IDA:UniProtKB. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0005887 integral component of plasma membrane; IDA:UniProtKB. # GO_component GO:0005911 cell-cell junction; ISS:UniProtKB. # GO_component GO:0009986 cell surface; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; IDA:UniProtKB. # GO_component GO:0016324 apical plasma membrane; IEA:UniProtKB-SubCell. # GO_component GO:0043025 neuronal cell body; ISS:UniProtKB. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0004252 serine-type endopeptidase activity; IDA:UniProtKB. # GO_function GO:0008233 peptidase activity; IDA:UniProtKB. # GO_function GO:0008236 serine-type peptidase activity; IDA:UniProtKB. # GO_function GO:0015269 calcium-activated potassium channel activity; ISS:UniProtKB. # GO_function GO:0070008 serine-type exopeptidase activity; IEA:InterPro. # GO_process GO:0006508 proteolysis; IDA:UniProtKB. # GO_process GO:0008360 regulation of cell shape; IMP:UniProtKB. # GO_process GO:0010628 positive regulation of gene expression; ISS:UniProtKB. # GO_process GO:0010719 negative regulation of epithelial to mesenchymal transition; IDA:UniProtKB. # GO_process GO:0010756 positive regulation of plasminogen activation; IDA:UniProtKB. # GO_process GO:0030307 positive regulation of cell growth; IMP:UniProtKB. # GO_process GO:0034769 basement membrane disassembly; IDA:UniProtKB. # GO_process GO:0043066 negative regulation of apoptotic process; IDA:UniProtKB. # GO_process GO:0043923 positive regulation by host of viral transcription; IDA:UniProtKB. # GO_process GO:0048012 hepatocyte growth factor receptor signaling pathway; TAS:Reactome. # GO_process GO:0050680 negative regulation of epithelial cell proliferation; IDA:UniProtKB. # GO_process GO:0050910 detection of mechanical stimulus involved in sensory perception of sound; ISS:UniProtKB. # GO_process GO:0071805 potassium ion transmembrane transport; ISS:UniProtKB. # GO_process GO:0090103 cochlea morphogenesis; ISS:UniProtKB. # GO_process GO:0097066 response to thyroid hormone; ISS:UniProtKB. # GO_process GO:0097195 pilomotor reflex; ISS:UniProtKB. # GO_process GO:2000347 positive regulation of hepatocyte proliferation; IDA:UniProtKB. # GO_process GO:2000611 positive regulation of thyroid hormone generation; ISS:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0008233 peptidase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0030198 extracellular matrix organization # GOslim_process GO:0050877 neurological system process # GOslim_process GO:0055085 transmembrane transport # Gene3D 3.10.250.10 -; 1. # Genevisible P05981 HS # HGNC HGNC:5155 HPN # InterPro IPR001254 Trypsin_dom # InterPro IPR001314 Peptidase_S1A # InterPro IPR009003 Peptidase_S1_PA # InterPro IPR015352 Hepsin-SRCR_dom # InterPro IPR017448 SRCR-like_dom # InterPro IPR018114 TRYPSIN_HIS # InterPro IPR033116 TRYPSIN_SER # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko01000 Enzymes # KEGG_Brite ko01002 Peptidases # KEGG_Pathway ko05203 Viral carcinogenesis # MIM 142440 gene # Organism HEPS_HUMAN Homo sapiens (Human) # PDB 1O5E X-ray; 1.75 A; H=163-417, L=46-159 # PDB 1O5F X-ray; 1.78 A; H=163-417, L=46-159 # PDB 1P57 X-ray; 1.75 A; A=46-159, B=163-417 # PDB 1Z8G X-ray; 1.55 A; A=46-417 # PDB 3T2N X-ray; 2.55 A; A/B=46-417 # PDB 5CE1 X-ray; 2.50 A; A=46-417 # PIR S00845 S00845 # PRINTS PR00722 CHYMOTRYPSIN # PROSITE PS00134 TRYPSIN_HIS # PROSITE PS00135 TRYPSIN_SER # PROSITE PS50240 TRYPSIN_DOM # Pfam PF00089 Trypsin # Pfam PF09272 Hepsin-SRCR # ProDom PD021735 Hepsin-SRCR # Proteomes UP000005640 Chromosome 19 # Reactome R-HSA-6806942 MET Receptor Activation # Reactome R-HSA-8852405 Signaling by MST1 # RecName HEPS_HUMAN Serine protease hepsin # RecName HEPS_HUMAN Serine protease hepsin catalytic chain # RecName HEPS_HUMAN Serine protease hepsin non-catalytic chain # RecName HEPS_HUMAN Serine protease hepsin non-catalytic chain # RefSeq NP_002142 NM_002151.2 # RefSeq NP_892028 NM_182983.2 # RefSeq XP_005258895 XM_005258838.4 # RefSeq XP_006723244 XM_006723181.3 # RefSeq XP_016882220 XM_017026731.1 # SIMILARITY Belongs to the peptidase S1 family. {ECO:0000255|PROSITE-ProRule PRU00274}. # SIMILARITY Contains 1 SRCR domain. {ECO 0000305}. # SIMILARITY Contains 1 peptidase S1 domain. {ECO:0000255|PROSITE- ProRule PRU00274}. # SMART SM00020 Tryp_SPc # SMART SM00202 SR # SUBCELLULAR LOCATION HEPS_HUMAN Cell membrane {ECO 0000269|PubMed 1885621}; Single-pass type II membrane protein {ECO 0000269|PubMed 1885621}. Apical cell membrane {ECO 0000269|PubMed 26673890}; Single-pass type II membrane protein {ECO 0000305}. # SUPFAM SSF50494 SSF50494 # SUPFAM SSF56487 SSF56487 # TISSUE SPECIFICITY Detected in liver and kidney. {ECO:0000269|PubMed 21875933}. # UCSC uc002nxq human # eggNOG COG5640 LUCA # eggNOG KOG3627 Eukaryota BLAST swissprot:HEPS_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:HEPS_HUMAN BioCyc ZFISH:HS02801-MONOMER http://biocyc.org/getid?id=ZFISH:HS02801-MONOMER COXPRESdb 3249 http://coxpresdb.jp/data/gene/3249.shtml CleanEx HS_HPN http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_HPN DOI 10.1016/S0969-2126(03)00148-5 http://dx.doi.org/10.1016/S0969-2126(03)00148-5 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/bi00403a032 http://dx.doi.org/10.1021/bi00403a032 DOI 10.1021/pr8008012 http://dx.doi.org/10.1021/pr8008012 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1042/BJ20041955 http://dx.doi.org/10.1042/BJ20041955 DOI 10.1073/pnas.90.15.7181 http://dx.doi.org/10.1073/pnas.90.15.7181 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1128/JVI.02202-13 http://dx.doi.org/10.1128/JVI.02202-13 DOI 10.1158/1541-7786.MCR-11-0004 http://dx.doi.org/10.1158/1541-7786.MCR-11-0004 DOI 10.7554/eLife.08887 http://dx.doi.org/10.7554/eLife.08887 DrugBank DB00036 http://www.drugbank.ca/drugs/DB00036 EC_number EC:3.4.21.106 {ECO:0000269|PubMed:15839837, ECO:0000269|PubMed:21875933, ECO:0000305|PubMed:26673890} http://www.genome.jp/dbget-bin/www_bget?EC:3.4.21.106 {ECO:0000269|PubMed:15839837, ECO:0000269|PubMed:21875933, ECO:0000305|PubMed:26673890} EMBL AK315655 http://www.ebi.ac.uk/ena/data/view/AK315655 EMBL BC025716 http://www.ebi.ac.uk/ena/data/view/BC025716 EMBL M18930 http://www.ebi.ac.uk/ena/data/view/M18930 EMBL X07002 http://www.ebi.ac.uk/ena/data/view/X07002 EMBL X07732 http://www.ebi.ac.uk/ena/data/view/X07732 ENZYME 3.4.21.106 {ECO:0000269|PubMed:15839837, ECO:0000269|PubMed:21875933, ECO:0000305|PubMed:26673890} http://enzyme.expasy.org/EC/3.4.21.106 {ECO:0000269|PubMed:15839837, ECO:0000269|PubMed:21875933, ECO:0000305|PubMed:26673890} Ensembl ENST00000262626 http://www.ensembl.org/id/ENST00000262626 Ensembl ENST00000392226 http://www.ensembl.org/id/ENST00000392226 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005789 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005789 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0005911 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005911 GO_component GO:0009986 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009986 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:0043025 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043025 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0004252 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004252 GO_function GO:0008233 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008233 GO_function GO:0008236 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008236 GO_function GO:0015269 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015269 GO_function GO:0070008 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070008 GO_process GO:0006508 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006508 GO_process GO:0008360 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008360 GO_process GO:0010628 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010628 GO_process GO:0010719 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010719 GO_process GO:0010756 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010756 GO_process GO:0030307 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030307 GO_process GO:0034769 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034769 GO_process GO:0043066 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043066 GO_process GO:0043923 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043923 GO_process GO:0048012 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048012 GO_process GO:0050680 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050680 GO_process GO:0050910 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050910 GO_process GO:0071805 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071805 GO_process GO:0090103 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090103 GO_process GO:0097066 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097066 GO_process GO:0097195 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097195 GO_process GO:2000347 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000347 GO_process GO:2000611 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000611 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0008233 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008233 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0030198 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030198 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 3.10.250.10 http://www.cathdb.info/version/latest/superfamily/3.10.250.10 GeneCards HPN http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=HPN GeneID 3249 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=3249 GeneTree ENSGT00760000118962 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118962 H-InvDB HIX0137465 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0137465 HGNC HGNC:5155 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:5155 HOGENOM HOG000251822 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000251822&db=HOGENOM6 HOVERGEN HBG013304 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG013304&db=HOVERGEN HPA HPA006804 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA006804 InParanoid P05981 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P05981 IntEnz 3.4.21.106 {ECO:0000269|PubMed:15839837, ECO:0000269|PubMed:21875933, ECO:0000305|PubMed:26673890} http://www.ebi.ac.uk/intenz/query?cmd=Search&q=3.4.21.106 {ECO:0000269|PubMed:15839837, ECO:0000269|PubMed:21875933, ECO:0000305|PubMed:26673890} InterPro IPR001254 http://www.ebi.ac.uk/interpro/entry/IPR001254 InterPro IPR001314 http://www.ebi.ac.uk/interpro/entry/IPR001314 InterPro IPR009003 http://www.ebi.ac.uk/interpro/entry/IPR009003 InterPro IPR015352 http://www.ebi.ac.uk/interpro/entry/IPR015352 InterPro IPR017448 http://www.ebi.ac.uk/interpro/entry/IPR017448 InterPro IPR018114 http://www.ebi.ac.uk/interpro/entry/IPR018114 InterPro IPR033116 http://www.ebi.ac.uk/interpro/entry/IPR033116 Jabion 3249 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=3249 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Brite ko01002 http://www.genome.jp/dbget-bin/www_bget?ko01002 KEGG_Gene hsa:3249 http://www.genome.jp/dbget-bin/www_bget?hsa:3249 KEGG_Orthology KO:K08665 http://www.genome.jp/dbget-bin/www_bget?KO:K08665 KEGG_Pathway ko05203 http://www.genome.jp/kegg-bin/show_pathway?ko05203 MIM 142440 http://www.ncbi.nlm.nih.gov/omim/142440 OMA CEEMGFI http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=CEEMGFI OrthoDB EOG091G0AH5 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0AH5 PDB 1O5E http://www.ebi.ac.uk/pdbe-srv/view/entry/1O5E PDB 1O5F http://www.ebi.ac.uk/pdbe-srv/view/entry/1O5F PDB 1P57 http://www.ebi.ac.uk/pdbe-srv/view/entry/1P57 PDB 1Z8G http://www.ebi.ac.uk/pdbe-srv/view/entry/1Z8G PDB 3T2N http://www.ebi.ac.uk/pdbe-srv/view/entry/3T2N PDB 5CE1 http://www.ebi.ac.uk/pdbe-srv/view/entry/5CE1 PDBsum 1O5E http://www.ebi.ac.uk/pdbsum/1O5E PDBsum 1O5F http://www.ebi.ac.uk/pdbsum/1O5F PDBsum 1P57 http://www.ebi.ac.uk/pdbsum/1P57 PDBsum 1Z8G http://www.ebi.ac.uk/pdbsum/1Z8G PDBsum 3T2N http://www.ebi.ac.uk/pdbsum/3T2N PDBsum 5CE1 http://www.ebi.ac.uk/pdbsum/5CE1 PRINTS PR00722 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00722 PROSITE PS00134 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00134 PROSITE PS00135 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00135 PROSITE PS50240 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50240 PSORT swissprot:HEPS_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:HEPS_HUMAN PSORT-B swissprot:HEPS_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:HEPS_HUMAN PSORT2 swissprot:HEPS_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:HEPS_HUMAN Pfam PF00089 http://pfam.xfam.org/family/PF00089 Pfam PF09272 http://pfam.xfam.org/family/PF09272 PharmGKB PA29425 http://www.pharmgkb.org/do/serve?objId=PA29425&objCls=Gene Phobius swissprot:HEPS_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:HEPS_HUMAN PhylomeDB P05981 http://phylomedb.org/?seqid=P05981 ProteinModelPortal P05981 http://www.proteinmodelportal.org/query/uniprot/P05981 PubMed 12962630 http://www.ncbi.nlm.nih.gov/pubmed/12962630 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15839837 http://www.ncbi.nlm.nih.gov/pubmed/15839837 PubMed 1885621 http://www.ncbi.nlm.nih.gov/pubmed/1885621 PubMed 19159218 http://www.ncbi.nlm.nih.gov/pubmed/19159218 PubMed 21875933 http://www.ncbi.nlm.nih.gov/pubmed/21875933 PubMed 24227843 http://www.ncbi.nlm.nih.gov/pubmed/24227843 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 26673890 http://www.ncbi.nlm.nih.gov/pubmed/26673890 PubMed 2835076 http://www.ncbi.nlm.nih.gov/pubmed/2835076 PubMed 8346233 http://www.ncbi.nlm.nih.gov/pubmed/8346233 Reactome R-HSA-6806942 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6806942 Reactome R-HSA-8852405 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-8852405 RefSeq NP_002142 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_002142 RefSeq NP_892028 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_892028 RefSeq XP_005258895 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005258895 RefSeq XP_006723244 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006723244 RefSeq XP_016882220 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016882220 SMART SM00020 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00020 SMART SM00202 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00202 SMR P05981 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P05981 STRING 9606.ENSP00000262626 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000262626&targetmode=cogs SUPFAM SSF50494 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF50494 SUPFAM SSF56487 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF56487 UCSC uc002nxq http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002nxq&org=rat UniGene Hs.182385 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.182385 UniProtKB HEPS_HUMAN http://www.uniprot.org/uniprot/HEPS_HUMAN UniProtKB-AC P05981 http://www.uniprot.org/uniprot/P05981 charge swissprot:HEPS_HUMAN http://rest.g-language.org/emboss/charge/swissprot:HEPS_HUMAN eggNOG COG5640 http://eggnogapi.embl.de/nog_data/html/tree/COG5640 eggNOG KOG3627 http://eggnogapi.embl.de/nog_data/html/tree/KOG3627 epestfind swissprot:HEPS_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:HEPS_HUMAN garnier swissprot:HEPS_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:HEPS_HUMAN helixturnhelix swissprot:HEPS_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:HEPS_HUMAN hmoment swissprot:HEPS_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:HEPS_HUMAN iep swissprot:HEPS_HUMAN http://rest.g-language.org/emboss/iep/swissprot:HEPS_HUMAN inforesidue swissprot:HEPS_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:HEPS_HUMAN neXtProt NX_P05981 http://www.nextprot.org/db/entry/NX_P05981 octanol swissprot:HEPS_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:HEPS_HUMAN pepcoil swissprot:HEPS_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:HEPS_HUMAN pepdigest swissprot:HEPS_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:HEPS_HUMAN pepinfo swissprot:HEPS_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:HEPS_HUMAN pepnet swissprot:HEPS_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:HEPS_HUMAN pepstats swissprot:HEPS_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:HEPS_HUMAN pepwheel swissprot:HEPS_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:HEPS_HUMAN pepwindow swissprot:HEPS_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:HEPS_HUMAN sigcleave swissprot:HEPS_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:HEPS_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS MOT5_HUMAN Event=Alternative splicing; Named isoforms=5; Name=1; IsoId=O15374-1; Sequence=Displayed; Name=2; IsoId=O15374-2; Sequence=VSP_046242, VSP_046243; Note=No experimental confirmation available.; Name=3; IsoId=O15374-3; Sequence=VSP_046244; Note=No experimental confirmation available.; Name=4; IsoId=O15374-4; Sequence=VSP_046456, VSP_046458; Note=No experimental confirmation available.; Name=5; IsoId=O15374-5; Sequence=VSP_046457; Note=No experimental confirmation available.; # AltName MOT5_HUMAN Monocarboxylate transporter 4 # AltName MOT5_HUMAN Solute carrier family 16 member 4 # BioGrid 114570 2 # CCDS CCDS55621 -. [O15374-4] # CCDS CCDS55622 -. [O15374-2] # CCDS CCDS55623 -. [O15374-5] # CCDS CCDS55624 -. [O15374-3] # CCDS CCDS823 -. [O15374-1] # CDD cd06174 MFS # DrugBank DB00119 Pyruvic acid # Ensembl ENST00000369779 ENSP00000358794; ENSG00000168679. [O15374-1] # Ensembl ENST00000369781 ENSP00000358796; ENSG00000168679. [O15374-3] # Ensembl ENST00000437429 ENSP00000394790; ENSG00000168679. [O15374-4] # Ensembl ENST00000472422 ENSP00000432495; ENSG00000168679. [O15374-5] # Ensembl ENST00000541986 ENSP00000446087; ENSG00000168679. [O15374-2] # ExpressionAtlas O15374 baseline and differential # FUNCTION MOT5_HUMAN Proton-linked monocarboxylate transporter. Catalyzes the rapid transport across the plasma membrane of many monocarboxylates such as lactate, pyruvate, branched-chain oxo acids derived from leucine, valine and isoleucine, and the ketone bodies acetoacetate, beta-hydroxybutyrate and acetate (By similarity). {ECO 0000250}. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0016020 membrane; TAS:ProtInc. # GO_function GO:0008028 monocarboxylic acid transmembrane transporter activity; TAS:ProtInc. # GO_function GO:0015129 lactate transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015293 symporter activity; IEA:UniProtKB-KW. # GO_process GO:0015718 monocarboxylic acid transport; TAS:ProtInc. # GO_process GO:0035879 plasma membrane lactate transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0055085 transmembrane transport # Genevisible O15374 HS # HGNC HGNC:10925 SLC16A4 # InterPro IPR011701 MFS # InterPro IPR020846 MFS_dom # KEGG_Brite ko02000 Transporters # KEGG_Brite ko02001 Solute carrier family # MIM 603878 gene # Organism MOT5_HUMAN Homo sapiens (Human) # PROSITE PS50850 MFS # Pfam PF07690 MFS_1 # Proteomes UP000005640 Chromosome 1 # RecName MOT5_HUMAN Monocarboxylate transporter 5 # RefSeq NP_001188475 NM_001201546.1. [O15374-5] # RefSeq NP_001188476 NM_001201547.1. [O15374-2] # RefSeq NP_001188477 NM_001201548.1. [O15374-4] # RefSeq NP_001188478 NM_001201549.1. [O15374-3] # RefSeq NP_004687 NM_004696.2. [O15374-1] # RefSeq XP_005271374 XM_005271317.4. [O15374-1] # SIMILARITY Belongs to the major facilitator superfamily. Monocarboxylate porter (TC 2.A.1.13) family. {ECO 0000305}. # SUBCELLULAR LOCATION MOT5_HUMAN Cell membrane; Multi-pass membrane protein. # SUPFAM SSF103473 SSF103473; 2 # TCDB 2.A.1.13 the major facilitator superfamily (mfs) # UCSC uc001dzo human. [O15374-1] # eggNOG ENOG410IMVW Eukaryota # eggNOG ENOG410ZITK LUCA BLAST swissprot:MOT5_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:MOT5_HUMAN BioCyc ZFISH:ENSG00000168679-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000168679-MONOMER COXPRESdb 9122 http://coxpresdb.jp/data/gene/9122.shtml CleanEx HS_SLC16A4 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC16A4 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1042/bj3290321 http://dx.doi.org/10.1042/bj3290321 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DrugBank DB00119 http://www.drugbank.ca/drugs/DB00119 EMBL AK290720 http://www.ebi.ac.uk/ena/data/view/AK290720 EMBL AK295946 http://www.ebi.ac.uk/ena/data/view/AK295946 EMBL AK298539 http://www.ebi.ac.uk/ena/data/view/AK298539 EMBL AK313735 http://www.ebi.ac.uk/ena/data/view/AK313735 EMBL AL355488 http://www.ebi.ac.uk/ena/data/view/AL355488 EMBL AL355488 http://www.ebi.ac.uk/ena/data/view/AL355488 EMBL BC021664 http://www.ebi.ac.uk/ena/data/view/BC021664 EMBL CH471122 http://www.ebi.ac.uk/ena/data/view/CH471122 EMBL CH471122 http://www.ebi.ac.uk/ena/data/view/CH471122 EMBL CH471122 http://www.ebi.ac.uk/ena/data/view/CH471122 EMBL U59185 http://www.ebi.ac.uk/ena/data/view/U59185 Ensembl ENST00000369779 http://www.ensembl.org/id/ENST00000369779 Ensembl ENST00000369781 http://www.ensembl.org/id/ENST00000369781 Ensembl ENST00000437429 http://www.ensembl.org/id/ENST00000437429 Ensembl ENST00000472422 http://www.ensembl.org/id/ENST00000472422 Ensembl ENST00000541986 http://www.ensembl.org/id/ENST00000541986 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_function GO:0008028 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008028 GO_function GO:0015129 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015129 GO_function GO:0015293 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015293 GO_process GO:0015718 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015718 GO_process GO:0035879 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035879 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC16A4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC16A4 GeneID 9122 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=9122 GeneTree ENSGT00760000118926 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118926 HGNC HGNC:10925 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10925 HOGENOM HOG000059591 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000059591&db=HOGENOM6 HOVERGEN HBG006385 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG006385&db=HOVERGEN HPA HPA046986 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA046986 InParanoid O15374 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O15374 IntAct O15374 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O15374* InterPro IPR011701 http://www.ebi.ac.uk/interpro/entry/IPR011701 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 9122 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=9122 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:9122 http://www.genome.jp/dbget-bin/www_bget?hsa:9122 KEGG_Orthology KO:K08181 http://www.genome.jp/dbget-bin/www_bget?KO:K08181 MIM 603878 http://www.ncbi.nlm.nih.gov/omim/603878 OMA CVTMGFL http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=CVTMGFL OrthoDB EOG091G07PG http://cegg.unige.ch/orthodb/results?searchtext=EOG091G07PG PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PSORT swissprot:MOT5_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:MOT5_HUMAN PSORT-B swissprot:MOT5_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:MOT5_HUMAN PSORT2 swissprot:MOT5_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:MOT5_HUMAN Pfam PF07690 http://pfam.xfam.org/family/PF07690 PharmGKB PA35816 http://www.pharmgkb.org/do/serve?objId=PA35816&objCls=Gene Phobius swissprot:MOT5_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:MOT5_HUMAN PhylomeDB O15374 http://phylomedb.org/?seqid=O15374 ProteinModelPortal O15374 http://www.proteinmodelportal.org/query/uniprot/O15374 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 9425115 http://www.ncbi.nlm.nih.gov/pubmed/9425115 RefSeq NP_001188475 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001188475 RefSeq NP_001188476 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001188476 RefSeq NP_001188477 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001188477 RefSeq NP_001188478 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001188478 RefSeq NP_004687 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004687 RefSeq XP_005271374 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005271374 STRING 9606.ENSP00000358794 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000358794&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.1.13 http://www.tcdb.org/search/result.php?tc=2.A.1.13 UCSC uc001dzo http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001dzo&org=rat UniGene Hs.351306 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.351306 UniProtKB MOT5_HUMAN http://www.uniprot.org/uniprot/MOT5_HUMAN UniProtKB-AC O15374 http://www.uniprot.org/uniprot/O15374 charge swissprot:MOT5_HUMAN http://rest.g-language.org/emboss/charge/swissprot:MOT5_HUMAN eggNOG ENOG410IMVW http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IMVW eggNOG ENOG410ZITK http://eggnogapi.embl.de/nog_data/html/tree/ENOG410ZITK epestfind swissprot:MOT5_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:MOT5_HUMAN garnier swissprot:MOT5_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:MOT5_HUMAN helixturnhelix swissprot:MOT5_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:MOT5_HUMAN hmoment swissprot:MOT5_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:MOT5_HUMAN iep swissprot:MOT5_HUMAN http://rest.g-language.org/emboss/iep/swissprot:MOT5_HUMAN inforesidue swissprot:MOT5_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:MOT5_HUMAN neXtProt NX_O15374 http://www.nextprot.org/db/entry/NX_O15374 octanol swissprot:MOT5_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:MOT5_HUMAN pepcoil swissprot:MOT5_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:MOT5_HUMAN pepdigest swissprot:MOT5_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:MOT5_HUMAN pepinfo swissprot:MOT5_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:MOT5_HUMAN pepnet swissprot:MOT5_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:MOT5_HUMAN pepstats swissprot:MOT5_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:MOT5_HUMAN pepwheel swissprot:MOT5_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:MOT5_HUMAN pepwindow swissprot:MOT5_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:MOT5_HUMAN sigcleave swissprot:MOT5_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:MOT5_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O75436-1; Sequence=Displayed; Name=2; IsoId=O75436-2; Sequence=VSP_044910; Note=No experimental confirmation available. Ref.6 (BQ048905) sequence is in conflict in position: 243 G->R. {ECO:0000305}; # AltName VP26A_HUMAN Vesicle protein sorting 26A # BioGrid 114930 99 # CCDS CCDS41536 -. [O75436-2] # CCDS CCDS7286 -. [O75436-1] # ChiTaRS VPS26A human # Ensembl ENST00000263559 ENSP00000263559; ENSG00000122958. [O75436-1] # Ensembl ENST00000373382 ENSP00000362480; ENSG00000122958. [O75436-1] # Ensembl ENST00000395098 ENSP00000378532; ENSG00000122958. [O75436-2] # ExpressionAtlas O75436 baseline and differential # FUNCTION VP26A_HUMAN Acts as component of the retromer cargo-selective complex (CSC). The CSC is believed to be the core functional component of retromer or respective retromer complex variants acting to prevent missorting of selected transmembrane cargo proteins into the lysosomal degradation pathway. The recruitment of the CSC to the endosomal membrane involves RAB7A and SNX3. The SNX-BAR retromer mediates retrograde transport of cargo proteins from endosomes to the trans-Golgi network (TGN) and is involved in endosome-to-plasma membrane transport for cargo protein recycling. The SNX3-retromer mediates the retrograde endosome-to-TGN transport of WLS distinct from the SNX-BAR retromer pathway. The SNX27-retromer is believed to be involved in endosome-to-plasma membrane trafficking and recycling of a broad spectrum of cargo proteins (Probable). The CSC seems to act as recruitment hub for other proteins, such as the WASH complex and TBC1D5 (Probable). Required for retrograde transport of lysosomal enzyme receptor IGF2R (PubMed 15078902, PubMed 15078903). Required to regulate transcytosis of the polymeric immunoglobulin receptor (pIgR-pIgA) (PubMed 15247922). Required for the endosomal localization of FAM21A (indicative for the WASH complex) (PubMed 22070227). Required for the endosomal localization of TBC1D5 (PubMed 20923837). Mediates retromer cargo reognition of SORL1 and is involved in trafficking of SORL1 implicated in sorting and processing of APP (PubMed 22279231). Involved in retromer- independent lysosomal sorting of F2R (PubMed 16407403). Involved in recycling of ADRB2 (PubMed 21602791). Enhances the affinity of SNX27 for PDZ-binding motifs in cargo proteins (By similarity). {ECO 0000250|UniProtKB P40336, ECO 0000269|PubMed 15078902, ECO 0000269|PubMed 15078903, ECO 0000269|PubMed 15247922, ECO 0000269|PubMed 16407403, ECO 0000269|PubMed 22070227, ECO 0000269|PubMed 22279231, ECO 0000303|PubMed 20923837, ECO 0000303|PubMed 21602791, ECO 0000303|PubMed 21725319, ECO 0000303|PubMed 23563491, ECO 0000305}. # GO_component GO:0005768 endosome; IDA:UniProtKB. # GO_component GO:0005769 early endosome; IDA:UniProtKB. # GO_component GO:0005829 cytosol; IDA:UniProtKB. # GO_component GO:0010008 endosome membrane; IDA:UniProtKB. # GO_component GO:0030904 retromer complex; IDA:ParkinsonsUK-UCL. # GO_component GO:0030906 retromer, cargo-selective complex; IDA:ParkinsonsUK-UCL. # GO_component GO:0031982 vesicle; IDA:UniProtKB. # GO_component GO:0043231 intracellular membrane-bounded organelle; IDA:HPA. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_component GO:0097422 tubular endosome; IDA:UniProtKB. # GO_function GO:0008565 protein transporter activity; NAS:UniProtKB. # GO_process GO:0006886 intracellular protein transport; IBA:GO_Central. # GO_process GO:0016055 Wnt signaling pathway; TAS:Reactome. # GO_process GO:0016241 regulation of macroautophagy; TAS:ParkinsonsUK-UCL. # GO_process GO:0042147 retrograde transport, endosome to Golgi; IMP:UniProtKB. # GO_process GO:1990126 retrograde transport, endosome to plasma membrane; IMP:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005768 endosome # GOslim_component GO:0005829 cytosol # GOslim_component GO:0043226 organelle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0008565 protein transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0016192 vesicle-mediated transport # Genevisible O75436 HS # HGNC HGNC:12711 VPS26A # INDUCTION VP26A_HUMAN Down-regulated in Alzheimer disease. No polymorphism or variant is however associated with Alzheimer disease for VPS26A. {ECO 0000269|PubMed 16315276, ECO 0000269|PubMed 16784798}. # INTERACTION VP26A_HUMAN Q9UBQ0 VPS29; NbExp=5; IntAct=EBI-1043891, EBI-718596; Q96QK1 VPS35; NbExp=7; IntAct=EBI-1043891, EBI-1054634; # IntAct O75436 41 # InterPro IPR028934 Vps26-related # MIM 605506 gene # Organism VP26A_HUMAN Homo sapiens (Human) # PDB 2FAU X-ray; 2.10 A; A=1-327 # Pfam PF03643 Vps26 # Proteomes UP000005640 Chromosome 10 # Reactome R-HSA-3238698 WNT ligand biogenesis and trafficking # RecName VP26A_HUMAN Vacuolar protein sorting-associated protein 26A # RefSeq NP_001030337 NM_001035260.2. [O75436-2] # RefSeq NP_001305875 NM_001318946.1 # RefSeq NP_004887 NM_004896.4. [O75436-1] # SIMILARITY Belongs to the VPS26 family. {ECO 0000305}. # SUBCELLULAR LOCATION VP26A_HUMAN Cytoplasm {ECO 0000269|PubMed 15078903}. Endosome membrane {ECO 0000269|PubMed 22431521}; Peripheral membrane protein {ECO 0000250|UniProtKB P40336}. Early endosome {ECO 0000269|PubMed 15078903, ECO 0000269|PubMed 16190980, ECO 0000269|PubMed 16732284, ECO 0000269|PubMed 20682791}. Note=Localizes to tubular profiles adjacent to endosomes (PubMed 15078903). Predominantly found in early not late endosomes (By similarity). {ECO 0000250|UniProtKB P40336}. # SUBUNIT VP26A_HUMAN Component of the heterotrimeric retromer cargo-selective complex (CSC), also descibed as vacuolar protein sorting subcomplex (VPS), formed by VPS26 (VPS26A or VPS26B), VPS29 and VPS35 (PubMed 11102511). The CSC has a highly elongated structure with VPS26 and VPS29 binding independently at opposite distal ends of VPS35 as central platform (By similarity). The CSC is believed to associate with variable sorting nexins to form functionally distinct retromer complex variants. The originally described retromer complex (also called SNX-BAR retromer) is a pentamer containing the CSC and a heterodimeric membrane-deforming subcomplex formed between SNX1 or SNX2 and SNX5 or SNX6 (also called SNX-BAR subcomplex); the respective CSC and SNX-BAR subcomplexes associate with low affinity. The CSC associates with SNX3 to form a SNX3-retromer complex. The CSC associates with SNX27, the WASH complex and the SNX-BAR subcomplex to form the SNX27-retromer complex (Probable). Interacts with VPS29, VPS35, SNX1, SNX2, SNX5, SNX6, SNX3, SNX27, RAB7A, ECM29, EHD1, KIAA0196, SORL1 (PubMed 11102511, PubMed 16190980, PubMed 19619496, PubMed 17868075, PubMed 19531583, PubMed 20682791, PubMed 20923837, PubMed 21725319, PubMed 22279231, PubMed 24344282, PubMed 16732284). {ECO 0000250|UniProtKB P40336, ECO 0000269|PubMed 11102511, ECO 0000269|PubMed 16190980, ECO 0000269|PubMed 16732284, ECO 0000269|PubMed 17868075, ECO 0000269|PubMed 19531583, ECO 0000269|PubMed 20682791, ECO 0000269|PubMed 20923837, ECO 0000269|PubMed 21725319, ECO 0000269|PubMed 22279231, ECO 0000269|PubMed 23563491, ECO 0000269|PubMed 24344282, ECO 0000303|PubMed 19619496, ECO 0000303|PubMed 21602791, ECO 0000303|PubMed 21725319}. # UCSC uc001jpb human. [O75436-1] # eggNOG ENOG410XSI1 LUCA # eggNOG KOG3063 Eukaryota BLAST swissprot:VP26A_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:VP26A_HUMAN BioCyc ZFISH:ENSG00000122958-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000122958-MONOMER COXPRESdb 9559 http://coxpresdb.jp/data/gene/9559.shtml CleanEx HS_VPS26A http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_VPS26A DIP DIP-29075N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-29075N DOI 10.1002/ana.20667 http://dx.doi.org/10.1002/ana.20667 DOI 10.1016/j.devcel.2009.04.016 http://dx.doi.org/10.1016/j.devcel.2009.04.016 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1016/j.neurobiolaging.2006.05.009 http://dx.doi.org/10.1016/j.neurobiolaging.2006.05.009 DOI 10.1038/nature02462 http://dx.doi.org/10.1038/nature02462 DOI 10.1038/nbt1240 http://dx.doi.org/10.1038/nbt1240 DOI 10.1038/ncb1153 http://dx.doi.org/10.1038/ncb1153 DOI 10.1038/ncb2252 http://dx.doi.org/10.1038/ncb2252 DOI 10.1038/ncb2281 http://dx.doi.org/10.1038/ncb2281 DOI 10.1038/ncb2721 http://dx.doi.org/10.1038/ncb2721 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1038/nsmb1103 http://dx.doi.org/10.1038/nsmb1103 DOI 10.1042/BJ20111761 http://dx.doi.org/10.1042/BJ20111761 DOI 10.1073/pnas.1316482111 http://dx.doi.org/10.1073/pnas.1316482111 DOI 10.1073/pnas.95.14.8175 http://dx.doi.org/10.1073/pnas.95.14.8175 DOI 10.1074/jbc.M110.154120 http://dx.doi.org/10.1074/jbc.M110.154120 DOI 10.1083/jcb.200312034 http://dx.doi.org/10.1083/jcb.200312034 DOI 10.1083/jcb.200312055 http://dx.doi.org/10.1083/jcb.200312055 DOI 10.1091/mbc.11.12.4105 http://dx.doi.org/10.1091/mbc.11.12.4105 DOI 10.1091/mbc.E05-09-0899 http://dx.doi.org/10.1091/mbc.E05-09-0899 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1600-0854.2005.00328.x http://dx.doi.org/10.1111/j.1600-0854.2005.00328.x DOI 10.1111/j.1600-0854.2007.00652.x http://dx.doi.org/10.1111/j.1600-0854.2007.00652.x DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 DOI 10.1128/MCB.06726-11 http://dx.doi.org/10.1128/MCB.06726-11 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DOI 10.1242/jcs.048686 http://dx.doi.org/10.1242/jcs.048686 DOI 10.1242/jcs.071472 http://dx.doi.org/10.1242/jcs.071472 DOI 10.1523/JNEUROSCI.2272-11.2012 http://dx.doi.org/10.1523/JNEUROSCI.2272-11.2012 EMBL AF054179 http://www.ebi.ac.uk/ena/data/view/AF054179 EMBL AF175266 http://www.ebi.ac.uk/ena/data/view/AF175266 EMBL AK022992 http://www.ebi.ac.uk/ena/data/view/AK022992 EMBL AK315496 http://www.ebi.ac.uk/ena/data/view/AK315496 EMBL AL442635 http://www.ebi.ac.uk/ena/data/view/AL442635 EMBL AL442635 http://www.ebi.ac.uk/ena/data/view/AL442635 EMBL AL596223 http://www.ebi.ac.uk/ena/data/view/AL596223 EMBL AL596223 http://www.ebi.ac.uk/ena/data/view/AL596223 EMBL BC022505 http://www.ebi.ac.uk/ena/data/view/BC022505 EMBL BQ048905 http://www.ebi.ac.uk/ena/data/view/BQ048905 EMBL CH471083 http://www.ebi.ac.uk/ena/data/view/CH471083 Ensembl ENST00000263559 http://www.ensembl.org/id/ENST00000263559 Ensembl ENST00000373382 http://www.ensembl.org/id/ENST00000373382 Ensembl ENST00000395098 http://www.ensembl.org/id/ENST00000395098 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GO_component GO:0005769 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005769 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0010008 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010008 GO_component GO:0030904 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030904 GO_component GO:0030906 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030906 GO_component GO:0031982 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031982 GO_component GO:0043231 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043231 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_component GO:0097422 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097422 GO_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GO_process GO:0006886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006886 GO_process GO:0016055 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016055 GO_process GO:0016241 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016241 GO_process GO:0042147 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042147 GO_process GO:1990126 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1990126 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0016192 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016192 GeneCards VPS26A http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=VPS26A GeneID 9559 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=9559 GeneTree ENSGT00390000002588 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000002588 HGNC HGNC:12711 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:12711 HOGENOM HOG000191799 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000191799&db=HOGENOM6 HOVERGEN HBG082914 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG082914&db=HOVERGEN HPA CAB011602 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB011602 HPA CAB075733 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB075733 HPA HPA044581 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA044581 HPA HPA057498 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA057498 InParanoid O75436 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O75436 IntAct O75436 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O75436* InterPro IPR028934 http://www.ebi.ac.uk/interpro/entry/IPR028934 Jabion 9559 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=9559 KEGG_Gene hsa:9559 http://www.genome.jp/dbget-bin/www_bget?hsa:9559 MIM 605506 http://www.ncbi.nlm.nih.gov/omim/605506 MINT MINT-5000831 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-5000831 OMA SDKSNTH http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=SDKSNTH OrthoDB EOG091G09TQ http://cegg.unige.ch/orthodb/results?searchtext=EOG091G09TQ PDB 2FAU http://www.ebi.ac.uk/pdbe-srv/view/entry/2FAU PDBsum 2FAU http://www.ebi.ac.uk/pdbsum/2FAU PSORT swissprot:VP26A_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:VP26A_HUMAN PSORT-B swissprot:VP26A_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:VP26A_HUMAN PSORT2 swissprot:VP26A_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:VP26A_HUMAN Pfam PF03643 http://pfam.xfam.org/family/PF03643 PharmGKB PA37326 http://www.pharmgkb.org/do/serve?objId=PA37326&objCls=Gene Phobius swissprot:VP26A_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:VP26A_HUMAN PhylomeDB O75436 http://phylomedb.org/?seqid=O75436 ProteinModelPortal O75436 http://www.proteinmodelportal.org/query/uniprot/O75436 PubMed 11102511 http://www.ncbi.nlm.nih.gov/pubmed/11102511 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15078902 http://www.ncbi.nlm.nih.gov/pubmed/15078902 PubMed 15078903 http://www.ncbi.nlm.nih.gov/pubmed/15078903 PubMed 15164054 http://www.ncbi.nlm.nih.gov/pubmed/15164054 PubMed 15247922 http://www.ncbi.nlm.nih.gov/pubmed/15247922 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16190980 http://www.ncbi.nlm.nih.gov/pubmed/16190980 PubMed 16315276 http://www.ncbi.nlm.nih.gov/pubmed/16315276 PubMed 16407403 http://www.ncbi.nlm.nih.gov/pubmed/16407403 PubMed 16732284 http://www.ncbi.nlm.nih.gov/pubmed/16732284 PubMed 16784798 http://www.ncbi.nlm.nih.gov/pubmed/16784798 PubMed 16964243 http://www.ncbi.nlm.nih.gov/pubmed/16964243 PubMed 17868075 http://www.ncbi.nlm.nih.gov/pubmed/17868075 PubMed 19531583 http://www.ncbi.nlm.nih.gov/pubmed/19531583 PubMed 19619496 http://www.ncbi.nlm.nih.gov/pubmed/19619496 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 20682791 http://www.ncbi.nlm.nih.gov/pubmed/20682791 PubMed 20923837 http://www.ncbi.nlm.nih.gov/pubmed/20923837 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 21602791 http://www.ncbi.nlm.nih.gov/pubmed/21602791 PubMed 21725319 http://www.ncbi.nlm.nih.gov/pubmed/21725319 PubMed 22070227 http://www.ncbi.nlm.nih.gov/pubmed/22070227 PubMed 22279231 http://www.ncbi.nlm.nih.gov/pubmed/22279231 PubMed 22431521 http://www.ncbi.nlm.nih.gov/pubmed/22431521 PubMed 23563491 http://www.ncbi.nlm.nih.gov/pubmed/23563491 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 24344282 http://www.ncbi.nlm.nih.gov/pubmed/24344282 PubMed 9653160 http://www.ncbi.nlm.nih.gov/pubmed/9653160 Reactome R-HSA-3238698 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-3238698 RefSeq NP_001030337 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001030337 RefSeq NP_001305875 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001305875 RefSeq NP_004887 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004887 SMR O75436 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=O75436 STRING 9606.ENSP00000263559 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000263559&targetmode=cogs UCSC uc001jpb http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001jpb&org=rat UniGene Hs.499925 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.499925 UniProtKB VP26A_HUMAN http://www.uniprot.org/uniprot/VP26A_HUMAN UniProtKB-AC O75436 http://www.uniprot.org/uniprot/O75436 charge swissprot:VP26A_HUMAN http://rest.g-language.org/emboss/charge/swissprot:VP26A_HUMAN eggNOG ENOG410XSI1 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XSI1 eggNOG KOG3063 http://eggnogapi.embl.de/nog_data/html/tree/KOG3063 epestfind swissprot:VP26A_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:VP26A_HUMAN garnier swissprot:VP26A_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:VP26A_HUMAN helixturnhelix swissprot:VP26A_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:VP26A_HUMAN hmoment swissprot:VP26A_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:VP26A_HUMAN iep swissprot:VP26A_HUMAN http://rest.g-language.org/emboss/iep/swissprot:VP26A_HUMAN inforesidue swissprot:VP26A_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:VP26A_HUMAN neXtProt NX_O75436 http://www.nextprot.org/db/entry/NX_O75436 octanol swissprot:VP26A_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:VP26A_HUMAN pepcoil swissprot:VP26A_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:VP26A_HUMAN pepdigest swissprot:VP26A_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:VP26A_HUMAN pepinfo swissprot:VP26A_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:VP26A_HUMAN pepnet swissprot:VP26A_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:VP26A_HUMAN pepstats swissprot:VP26A_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:VP26A_HUMAN pepwheel swissprot:VP26A_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:VP26A_HUMAN pepwindow swissprot:VP26A_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:VP26A_HUMAN sigcleave swissprot:VP26A_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:VP26A_HUMAN ## Database ID URL or Descriptions # BioGrid 125254 4 # ChiTaRS MFSD3 human # Ensembl ENST00000301327 ENSP00000301327; ENSG00000167700 # GO_component GO:0005789 endoplasmic reticulum membrane; IBA:GO_Central. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_function GO:0008521 acetyl-CoA transporter activity; IBA:GO_Central. # GO_function MFSD3_HUMAN GO 0015295 solute proton symporter activity; IBA GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # Genevisible Q96ES6 HS # HGNC HGNC:25157 MFSD3 # IntAct Q96ES6 5 # InterPro IPR011701 MFS # InterPro IPR020846 MFS_dom # KEGG_Brite ko02000 Transporters # Organism MFSD3_HUMAN Homo sapiens (Human) # Pfam PF07690 MFS_1 # Proteomes UP000005640 Chromosome 8 # RecName MFSD3_HUMAN Major facilitator superfamily domain-containing protein 3 # RefSeq NP_612440 NM_138431.2 # SIMILARITY Belongs to the major facilitator superfamily. {ECO 0000305}. # SUBCELLULAR LOCATION MFSD3_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # SUPFAM SSF103473 SSF103473 # UCSC uc003zdi human # eggNOG COG0477 LUCA # eggNOG KOG3574 Eukaryota BLAST swissprot:MFSD3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:MFSD3_HUMAN BioCyc ZFISH:ENSG00000167700-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000167700-MONOMER COG COG0477 http://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=COG0477 COXPRESdb 113655 http://coxpresdb.jp/data/gene/113655.shtml CleanEx HS_MFSD3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_MFSD3 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL BC011982 http://www.ebi.ac.uk/ena/data/view/BC011982 Ensembl ENST00000301327 http://www.ensembl.org/id/ENST00000301327 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005789 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005789 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0008521 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008521 GO_function GO:0015295 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015295 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GeneCards MFSD3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=MFSD3 GeneID 113655 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=113655 GeneTree ENSGT00730000111292 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00730000111292 HGNC HGNC:25157 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:25157 HOGENOM HOG000217208 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000217208&db=HOGENOM6 HOVERGEN HBG080578 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG080578&db=HOVERGEN HPA HPA056013 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA056013 InParanoid Q96ES6 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q96ES6 IntAct Q96ES6 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q96ES6* InterPro IPR011701 http://www.ebi.ac.uk/interpro/entry/IPR011701 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 113655 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=113655 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Gene hsa:113655 http://www.genome.jp/dbget-bin/www_bget?hsa:113655 KEGG_Orthology KO:K08218 http://www.genome.jp/dbget-bin/www_bget?KO:K08218 MINT MINT-1479139 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1479139 OMA FPLWRIT http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=FPLWRIT OrthoDB EOG091G0JAA http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0JAA PSORT swissprot:MFSD3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:MFSD3_HUMAN PSORT-B swissprot:MFSD3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:MFSD3_HUMAN PSORT2 swissprot:MFSD3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:MFSD3_HUMAN Pfam PF07690 http://pfam.xfam.org/family/PF07690 PharmGKB PA142671464 http://www.pharmgkb.org/do/serve?objId=PA142671464&objCls=Gene Phobius swissprot:MFSD3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:MFSD3_HUMAN PhylomeDB Q96ES6 http://phylomedb.org/?seqid=Q96ES6 ProteinModelPortal Q96ES6 http://www.proteinmodelportal.org/query/uniprot/Q96ES6 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 RefSeq NP_612440 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_612440 STRING 9606.ENSP00000301327 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000301327&targetmode=cogs STRING COG0477 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=COG0477&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 UCSC uc003zdi http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003zdi&org=rat UniGene Hs.7678 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.7678 UniProtKB MFSD3_HUMAN http://www.uniprot.org/uniprot/MFSD3_HUMAN UniProtKB-AC Q96ES6 http://www.uniprot.org/uniprot/Q96ES6 charge swissprot:MFSD3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:MFSD3_HUMAN eggNOG COG0477 http://eggnogapi.embl.de/nog_data/html/tree/COG0477 eggNOG KOG3574 http://eggnogapi.embl.de/nog_data/html/tree/KOG3574 epestfind swissprot:MFSD3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:MFSD3_HUMAN garnier swissprot:MFSD3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:MFSD3_HUMAN helixturnhelix swissprot:MFSD3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:MFSD3_HUMAN hmoment swissprot:MFSD3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:MFSD3_HUMAN iep swissprot:MFSD3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:MFSD3_HUMAN inforesidue swissprot:MFSD3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:MFSD3_HUMAN neXtProt NX_Q96ES6 http://www.nextprot.org/db/entry/NX_Q96ES6 octanol swissprot:MFSD3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:MFSD3_HUMAN pepcoil swissprot:MFSD3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:MFSD3_HUMAN pepdigest swissprot:MFSD3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:MFSD3_HUMAN pepinfo swissprot:MFSD3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:MFSD3_HUMAN pepnet swissprot:MFSD3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:MFSD3_HUMAN pepstats swissprot:MFSD3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:MFSD3_HUMAN pepwheel swissprot:MFSD3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:MFSD3_HUMAN pepwindow swissprot:MFSD3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:MFSD3_HUMAN sigcleave swissprot:MFSD3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:MFSD3_HUMAN ## Database ID URL or Descriptions # AltName GTR3_HUMAN Glucose transporter type 3, brain # BioGrid 112406 4 # CDD cd06174 MFS # ChiTaRS SLC2A3 human # DOMAIN GTR3_HUMAN Transport is mediated via a series of conformation changes, switching between a conformation where the substrate- binding cavity is accessible from the outside, and a another conformation where it is accessible from the cytoplasm. {ECO 0000305|PubMed 26176916}. # Ensembl ENST00000075120 ENSP00000075120; ENSG00000059804 # ExpressionAtlas P11169 baseline and differential # FUNCTION GTR3_HUMAN Facilitative glucose transporter that can also mediate the uptake of various other monosaccharides across the cell membrane (PubMed 9477959, PubMed 26176916). Mediates the uptake of glucose, 2-deoxyglucose, galactose, mannose, xylose and fucose, and probably also dehydroascorbate (PubMed 9477959, PubMed 26176916). Does not mediate fructose transport (PubMed 9477959, PubMed 26176916). {ECO 0000269|PubMed 26176916, ECO 0000269|PubMed 9477959}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IMP:UniProtKB. # GO_component GO:0016021 integral component of membrane; IDA:UniProtKB. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0005355 glucose transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0005536 glucose binding; IDA:UniProtKB. # GO_function GO:0033300 dehydroascorbic acid transporter activity; EXP:Reactome. # GO_function GO:0055056 D-glucose transmembrane transporter activity; TAS:Reactome. # GO_process GO:0005975 carbohydrate metabolic process; NAS:ProtInc. # GO_process GO:0015758 glucose transport; TAS:Reactome. # GO_process GO:0019852 L-ascorbic acid metabolic process; TAS:Reactome. # GO_process GO:1904659 glucose transmembrane transport; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0005975 carbohydrate metabolic process # GOslim_process GO:0006810 transport # GOslim_process GO:0044281 small molecule metabolic process # GOslim_process GO:0055085 transmembrane transport # Genevisible P11169 HS # HGNC HGNC:11007 SLC2A3 # IntAct P11169 6 # InterPro IPR002945 Glc_transpt_3 # InterPro IPR003663 Sugar/inositol_transpt # InterPro IPR005828 MFS_sugar_transport-like # InterPro IPR005829 Sugar_transporter_CS # InterPro IPR020846 MFS_dom # KEGG_Brite ko02000 Transporters # KEGG_Brite ko02001 Solute carrier family # MIM 138170 gene # Organism GTR3_HUMAN Homo sapiens (Human) # Orphanet 399 Huntington disease # PDB 4ZW9 X-ray; 1.50 A; A=1-496 # PDB 4ZWB X-ray; 2.40 A; A=1-496 # PDB 4ZWC X-ray; 2.60 A; A/B=1-496 # PDB 5C65 X-ray; 2.65 A; A/B=1-474 # PIR A31986 A31986 # PIR T14798 T14798 # PRINTS PR00171 SUGRTRNSPORT # PRINTS PR01192 GLUCTRSPORT3 # PROSITE PS00216 SUGAR_TRANSPORT_1 # PROSITE PS00217 SUGAR_TRANSPORT_2 # PROSITE PS50850 MFS # Pfam PF00083 Sugar_tr # Proteomes UP000005640 Chromosome 12 # Reactome R-HSA-196836 Vitamin C (ascorbate) metabolism # Reactome R-HSA-428790 Facilitative Na+-independent glucose transporters # Reactome R-HSA-6798695 Neutrophil degranulation # Reactome R-HSA-70153 Glucose transport # RecName GTR3_HUMAN Solute carrier family 2, facilitated glucose transporter member 3 # RefSeq NP_008862 NM_006931.2 # SIMILARITY Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION GTR3_HUMAN Cell membrane {ECO 0000269|PubMed 9477959, ECO 0000305|PubMed 26176916}; Multi-pass membrane protein {ECO 0000269|PubMed 26176916}. # SUPFAM SSF103473 SSF103473; 2 # TCDB 2.A.1.1.91 the major facilitator superfamily (mfs) # TIGRFAMs TIGR00879 SP # TISSUE SPECIFICITY Highly expressed in brain. Expressed in many tissues. {ECO:0000269|PubMed 3170580}. # UCSC uc001qtr human # eggNOG COG0477 LUCA # eggNOG KOG0569 Eukaryota BLAST swissprot:GTR3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:GTR3_HUMAN BioCyc ZFISH:ENSG00000059804-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000059804-MONOMER COXPRESdb 6515 http://coxpresdb.jp/data/gene/6515.shtml CleanEx HS_SLC2A3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC2A3 DOI 10.1021/bi972322u http://dx.doi.org/10.1021/bi972322u DOI 10.1038/nature14655 http://dx.doi.org/10.1038/nature14655 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AF274889 http://www.ebi.ac.uk/ena/data/view/AF274889 EMBL AF274890 http://www.ebi.ac.uk/ena/data/view/AF274890 EMBL AF274891 http://www.ebi.ac.uk/ena/data/view/AF274891 EMBL AF274892 http://www.ebi.ac.uk/ena/data/view/AF274892 EMBL AK312386 http://www.ebi.ac.uk/ena/data/view/AK312386 EMBL AY034634 http://www.ebi.ac.uk/ena/data/view/AY034634 EMBL BC039196 http://www.ebi.ac.uk/ena/data/view/BC039196 EMBL CH471116 http://www.ebi.ac.uk/ena/data/view/CH471116 EMBL CH471116 http://www.ebi.ac.uk/ena/data/view/CH471116 EMBL CR457413 http://www.ebi.ac.uk/ena/data/view/CR457413 EMBL M20681 http://www.ebi.ac.uk/ena/data/view/M20681 Ensembl ENST00000075120 http://www.ensembl.org/id/ENST00000075120 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0005355 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005355 GO_function GO:0005536 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005536 GO_function GO:0033300 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033300 GO_function GO:0055056 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055056 GO_process GO:0005975 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005975 GO_process GO:0015758 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015758 GO_process GO:0019852 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019852 GO_process GO:1904659 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1904659 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0005975 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005975 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC2A3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC2A3 GeneID 6515 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6515 GeneTree ENSGT00760000119022 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119022 HGNC HGNC:11007 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11007 HOGENOM HOG000202871 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000202871&db=HOGENOM6 HOVERGEN HBG014816 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG014816&db=HOVERGEN HPA CAB002763 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB002763 HPA HPA006539 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA006539 InParanoid P11169 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P11169 IntAct P11169 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P11169* InterPro IPR002945 http://www.ebi.ac.uk/interpro/entry/IPR002945 InterPro IPR003663 http://www.ebi.ac.uk/interpro/entry/IPR003663 InterPro IPR005828 http://www.ebi.ac.uk/interpro/entry/IPR005828 InterPro IPR005829 http://www.ebi.ac.uk/interpro/entry/IPR005829 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 6515 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6515 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:6515 http://www.genome.jp/dbget-bin/www_bget?hsa:6515 KEGG_Orthology KO:K08142 http://www.genome.jp/dbget-bin/www_bget?KO:K08142 MIM 138170 http://www.ncbi.nlm.nih.gov/omim/138170 MINT MINT-4999361 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-4999361 OMA XLFLVER http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=XLFLVER Orphanet 399 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=399 OrthoDB EOG091G0A9K http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0A9K PDB 4ZW9 http://www.ebi.ac.uk/pdbe-srv/view/entry/4ZW9 PDB 4ZWB http://www.ebi.ac.uk/pdbe-srv/view/entry/4ZWB PDB 4ZWC http://www.ebi.ac.uk/pdbe-srv/view/entry/4ZWC PDB 5C65 http://www.ebi.ac.uk/pdbe-srv/view/entry/5C65 PDBsum 4ZW9 http://www.ebi.ac.uk/pdbsum/4ZW9 PDBsum 4ZWB http://www.ebi.ac.uk/pdbsum/4ZWB PDBsum 4ZWC http://www.ebi.ac.uk/pdbsum/4ZWC PDBsum 5C65 http://www.ebi.ac.uk/pdbsum/5C65 PRINTS PR00171 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00171 PRINTS PR01192 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01192 PROSITE PS00216 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00216 PROSITE PS00217 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00217 PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PSORT swissprot:GTR3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:GTR3_HUMAN PSORT-B swissprot:GTR3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:GTR3_HUMAN PSORT2 swissprot:GTR3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:GTR3_HUMAN Pfam PF00083 http://pfam.xfam.org/family/PF00083 PharmGKB PA35877 http://www.pharmgkb.org/do/serve?objId=PA35877&objCls=Gene Phobius swissprot:GTR3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:GTR3_HUMAN PhylomeDB P11169 http://phylomedb.org/?seqid=P11169 ProteinModelPortal P11169 http://www.proteinmodelportal.org/query/uniprot/P11169 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 26176916 http://www.ncbi.nlm.nih.gov/pubmed/26176916 PubMed 3170580 http://www.ncbi.nlm.nih.gov/pubmed/3170580 PubMed 9477959 http://www.ncbi.nlm.nih.gov/pubmed/9477959 Reactome R-HSA-196836 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-196836 Reactome R-HSA-428790 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-428790 Reactome R-HSA-6798695 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6798695 Reactome R-HSA-70153 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-70153 RefSeq NP_008862 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_008862 SMR P11169 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P11169 STRING 9606.ENSP00000075120 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000075120&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.1.1.91 http://www.tcdb.org/search/result.php?tc=2.A.1.1.91 TIGRFAMs TIGR00879 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00879 UCSC uc001qtr http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001qtr&org=rat UniGene Hs.419240 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.419240 UniProtKB GTR3_HUMAN http://www.uniprot.org/uniprot/GTR3_HUMAN UniProtKB-AC P11169 http://www.uniprot.org/uniprot/P11169 charge swissprot:GTR3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:GTR3_HUMAN eggNOG COG0477 http://eggnogapi.embl.de/nog_data/html/tree/COG0477 eggNOG KOG0569 http://eggnogapi.embl.de/nog_data/html/tree/KOG0569 epestfind swissprot:GTR3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:GTR3_HUMAN garnier swissprot:GTR3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:GTR3_HUMAN helixturnhelix swissprot:GTR3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:GTR3_HUMAN hmoment swissprot:GTR3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:GTR3_HUMAN iep swissprot:GTR3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:GTR3_HUMAN inforesidue swissprot:GTR3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:GTR3_HUMAN neXtProt NX_P11169 http://www.nextprot.org/db/entry/NX_P11169 octanol swissprot:GTR3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:GTR3_HUMAN pepcoil swissprot:GTR3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:GTR3_HUMAN pepdigest swissprot:GTR3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:GTR3_HUMAN pepinfo swissprot:GTR3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:GTR3_HUMAN pepnet swissprot:GTR3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:GTR3_HUMAN pepstats swissprot:GTR3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:GTR3_HUMAN pepwheel swissprot:GTR3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:GTR3_HUMAN pepwindow swissprot:GTR3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:GTR3_HUMAN sigcleave swissprot:GTR3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:GTR3_HUMAN ## Database ID URL or Descriptions # DISEASE ACHE_HUMAN Myasthenic syndrome, congenital, 4A, slow-channel (CMS4A) [MIM 605809] A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS4A is a slow-channel myasthenic syndrome. It is caused by kinetic abnormalities of the AChR, resulting in prolonged AChR channel opening episodes, prolonged endplate currents, and depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane. {ECO 0000269|PubMed 12141316, ECO 0000269|PubMed 7531341, ECO 0000269|PubMed 7538206, ECO 0000269|PubMed 8872460}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE ACHE_HUMAN Myasthenic syndrome, congenital, 4B, fast-channel (CMS4B) [MIM 616324] A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS4B is a fast-channel myasthenic syndrome. It is caused by kinetic abnormalities of the AChR, resulting in brief opening and activity of the channel, with a rapid decay in endplate current, failure to achieve threshold depolarization of the endplate and consequent failure to fire an action potential. {ECO 0000269|PubMed 10962020, ECO 0000269|PubMed 22592360, ECO 0000269|PubMed 8755487}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE ACHE_HUMAN Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency (CMS4C) [MIM 608931] A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS4C is an autosomal recessive disorder of postsynaptic neuromuscular transmission, due to deficiency of AChR at the endplate that results in low amplitude of the miniature endplate potential and current. {ECO 0000269|PubMed 9158150}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE ACHE_HUMAN Note=The muscle AChR is the major target antigen in the autoimmune disease myasthenia gravis. Myasthenia gravis is characterized by sporadic muscular fatigability and weakness, occurring chiefly in muscles innervated by cranial nerves, and characteristically improved by cholinesterase-inhibiting drugs. # DrugBank DB00674 Galantamine # Ensembl ENST00000293780 ENSP00000293780; ENSG00000108556 # FUNCTION ACHE_HUMAN After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0005892 acetylcholine-gated channel complex; TAS:ProtInc. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0045211 postsynaptic membrane; IEA:UniProtKB-SubCell. # GO_function GO:0004889 acetylcholine-activated cation-selective channel activity; TAS:ProtInc. # GO_function GO:0008324 cation transmembrane transporter activity; TAS:ProtInc. # GO_function GO:0015276 ligand-gated ion channel activity; TAS:Reactome. # GO_function GO:0015464 acetylcholine receptor activity; TAS:ProtInc. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0006936 muscle contraction; TAS:ProtInc. # GO_process GO:0007165 signal transduction; TAS:ProtInc. # GO_process GO:0007271 synaptic transmission, cholinergic; TAS:ProtInc. # GO_process GO:0007274 neuromuscular synaptic transmission; IBA:GO_Central. # GO_process GO:0035094 response to nicotine; IBA:GO_Central. # GO_process GO:0042391 regulation of membrane potential; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # Gene3D 1.20.120.370 -; 2. # Gene3D 2.70.170.10 -; 1. # Genevisible Q04844 HS # HGNC HGNC:1966 CHRNE # InterPro IPR002394 Nicotinic_acetylcholine_rcpt # InterPro IPR006029 Neurotrans-gated_channel_TM # InterPro IPR006201 Neur_channel # InterPro IPR006202 Neur_chan_lig-bd # InterPro IPR018000 Neurotransmitter_ion_chnl_CS # InterPro IPR027361 Acetylcholine_rcpt_TM # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00770 [Nervous system disease] Congenital myasthenic syndrome # KEGG_Pathway ko04080 Neuroactive ligand-receptor interaction # MIM 100725 gene # MIM 254200 phenotype # MIM 605809 phenotype # MIM 608931 phenotype # MIM 616324 phenotype # Organism ACHE_HUMAN Homo sapiens (Human) # Orphanet 98913 Postsynaptic congenital myasthenic syndromes # PANTHER PTHR18945 PTHR18945; 2 # PDB 2DF9 Model; -; A=240-332 # PIR S34775 S34775 # PRINTS PR00252 NRIONCHANNEL # PRINTS PR00254 NICOTINICR # PROSITE PS00236 NEUROTR_ION_CHANNEL # Pfam PF02931 Neur_chan_LBD # Pfam PF02932 Neur_chan_memb # Proteomes UP000005640 Chromosome 17 # Reactome R-HSA-629587 Highly sodium permeable acetylcholine nicotinic receptors # RecName ACHE_HUMAN Acetylcholine receptor subunit epsilon # RefSeq NP_000071 NM_000080.3 # SIMILARITY Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Epsilon/CHRNE sub-subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION ACHE_HUMAN Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. # SUBUNIT ACHE_HUMAN Pentamer of two alpha chains, and one each of the beta, delta, and gamma (in immature muscle) or epsilon (in mature muscle) chains. # SUPFAM SSF63712 SSF63712 # SUPFAM SSF90112 SSF90112 # TCDB 1.A.9.1 the neurotransmitter receptor, cys loop, ligand-gated ion channel (lic) family # UCSC uc002fzk human # eggNOG ENOG410XQGR LUCA # eggNOG KOG3645 Eukaryota BLAST swissprot:ACHE_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ACHE_HUMAN BioCyc ZFISH:ENSG00000108556-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000108556-MONOMER COXPRESdb 1145 http://coxpresdb.jp/data/gene/1145.shtml CleanEx HS_CHRNE http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CHRNE DOI 10.1016/S0896-6273(00)80289-5 http://dx.doi.org/10.1016/S0896-6273(00)80289-5 DOI 10.1073/pnas.92.3.758 http://dx.doi.org/10.1073/pnas.92.3.758 DOI 10.1085/jgp.116.3.449 http://dx.doi.org/10.1085/jgp.116.3.449 DOI 10.1093/hmg/5.9.1217 http://dx.doi.org/10.1093/hmg/5.9.1217 DOI 10.1093/hmg/6.5.753 http://dx.doi.org/10.1093/hmg/6.5.753 DOI 10.1111/j.1432-1033.1993.tb18027.x http://dx.doi.org/10.1111/j.1432-1033.1993.tb18027.x DOI 10.1212/WNL.0b013e31825b5bda http://dx.doi.org/10.1212/WNL.0b013e31825b5bda DOI 10.1212/WNL.45.5.982 http://dx.doi.org/10.1212/WNL.45.5.982 DOI 10.1212/WNL.59.2.162 http://dx.doi.org/10.1212/WNL.59.2.162 DrugBank DB00674 http://www.drugbank.ca/drugs/DB00674 EMBL AF105999 http://www.ebi.ac.uk/ena/data/view/AF105999 EMBL CH471108 http://www.ebi.ac.uk/ena/data/view/CH471108 EMBL CH471108 http://www.ebi.ac.uk/ena/data/view/CH471108 EMBL X66403 http://www.ebi.ac.uk/ena/data/view/X66403 Ensembl ENST00000293780 http://www.ensembl.org/id/ENST00000293780 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0005892 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005892 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0045211 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045211 GO_function GO:0004889 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004889 GO_function GO:0008324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008324 GO_function GO:0015276 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015276 GO_function GO:0015464 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015464 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0006936 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006936 GO_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GO_process GO:0007271 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007271 GO_process GO:0007274 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007274 GO_process GO:0035094 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035094 GO_process GO:0042391 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042391 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 Gene3D 1.20.120.370 http://www.cathdb.info/version/latest/superfamily/1.20.120.370 Gene3D 2.70.170.10 http://www.cathdb.info/version/latest/superfamily/2.70.170.10 GeneCards CHRNE http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CHRNE GeneID 1145 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=1145 GeneTree ENSGT00760000118930 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118930 H-InvDB HIX0027273 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0027273 HGNC HGNC:1966 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:1966 HOGENOM HOG000006757 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000006757&db=HOGENOM6 HOVERGEN HBG003756 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG003756&db=HOVERGEN InParanoid Q04844 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q04844 InterPro IPR002394 http://www.ebi.ac.uk/interpro/entry/IPR002394 InterPro IPR006029 http://www.ebi.ac.uk/interpro/entry/IPR006029 InterPro IPR006201 http://www.ebi.ac.uk/interpro/entry/IPR006201 InterPro IPR006202 http://www.ebi.ac.uk/interpro/entry/IPR006202 InterPro IPR018000 http://www.ebi.ac.uk/interpro/entry/IPR018000 InterPro IPR027361 http://www.ebi.ac.uk/interpro/entry/IPR027361 Jabion 1145 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=1145 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00770 http://www.genome.jp/dbget-bin/www_bget?H00770 KEGG_Gene hsa:1145 http://www.genome.jp/dbget-bin/www_bget?hsa:1145 KEGG_Orthology KO:K04817 http://www.genome.jp/dbget-bin/www_bget?KO:K04817 KEGG_Pathway ko04080 http://www.genome.jp/kegg-bin/show_pathway?ko04080 MIM 100725 http://www.ncbi.nlm.nih.gov/omim/100725 MIM 254200 http://www.ncbi.nlm.nih.gov/omim/254200 MIM 605809 http://www.ncbi.nlm.nih.gov/omim/605809 MIM 608931 http://www.ncbi.nlm.nih.gov/omim/608931 MIM 616324 http://www.ncbi.nlm.nih.gov/omim/616324 OMA RHRHGTW http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=RHRHGTW Orphanet 98913 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=98913 OrthoDB EOG091G0R20 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0R20 PANTHER PTHR18945 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR18945 PDB 2DF9 http://www.ebi.ac.uk/pdbe-srv/view/entry/2DF9 PDBsum 2DF9 http://www.ebi.ac.uk/pdbsum/2DF9 PRINTS PR00252 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00252 PRINTS PR00254 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00254 PROSITE PS00236 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00236 PSORT swissprot:ACHE_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ACHE_HUMAN PSORT-B swissprot:ACHE_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ACHE_HUMAN PSORT2 swissprot:ACHE_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ACHE_HUMAN Pfam PF02931 http://pfam.xfam.org/family/PF02931 Pfam PF02932 http://pfam.xfam.org/family/PF02932 PharmGKB PA26498 http://www.pharmgkb.org/do/serve?objId=PA26498&objCls=Gene Phobius swissprot:ACHE_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ACHE_HUMAN PhylomeDB Q04844 http://phylomedb.org/?seqid=Q04844 ProteinModelPortal Q04844 http://www.proteinmodelportal.org/query/uniprot/Q04844 PubMed 10962020 http://www.ncbi.nlm.nih.gov/pubmed/10962020 PubMed 12141316 http://www.ncbi.nlm.nih.gov/pubmed/12141316 PubMed 22592360 http://www.ncbi.nlm.nih.gov/pubmed/22592360 PubMed 7531341 http://www.ncbi.nlm.nih.gov/pubmed/7531341 PubMed 7538206 http://www.ncbi.nlm.nih.gov/pubmed/7538206 PubMed 7688301 http://www.ncbi.nlm.nih.gov/pubmed/7688301 PubMed 8755487 http://www.ncbi.nlm.nih.gov/pubmed/8755487 PubMed 8872460 http://www.ncbi.nlm.nih.gov/pubmed/8872460 PubMed 9158150 http://www.ncbi.nlm.nih.gov/pubmed/9158150 Reactome R-HSA-629587 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-629587 RefSeq NP_000071 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000071 STRING 9606.ENSP00000293780 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000293780&targetmode=cogs SUPFAM SSF63712 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF63712 SUPFAM SSF90112 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF90112 TCDB 1.A.9.1 http://www.tcdb.org/search/result.php?tc=1.A.9.1 UCSC uc002fzk http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002fzk&org=rat UniGene Hs.654535 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.654535 UniProtKB ACHE_HUMAN http://www.uniprot.org/uniprot/ACHE_HUMAN UniProtKB-AC Q04844 http://www.uniprot.org/uniprot/Q04844 charge swissprot:ACHE_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ACHE_HUMAN eggNOG ENOG410XQGR http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XQGR eggNOG KOG3645 http://eggnogapi.embl.de/nog_data/html/tree/KOG3645 epestfind swissprot:ACHE_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ACHE_HUMAN garnier swissprot:ACHE_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ACHE_HUMAN helixturnhelix swissprot:ACHE_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ACHE_HUMAN hmoment swissprot:ACHE_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ACHE_HUMAN iep swissprot:ACHE_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ACHE_HUMAN inforesidue swissprot:ACHE_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ACHE_HUMAN neXtProt NX_Q04844 http://www.nextprot.org/db/entry/NX_Q04844 octanol swissprot:ACHE_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ACHE_HUMAN pepcoil swissprot:ACHE_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ACHE_HUMAN pepdigest swissprot:ACHE_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ACHE_HUMAN pepinfo swissprot:ACHE_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ACHE_HUMAN pepnet swissprot:ACHE_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ACHE_HUMAN pepstats swissprot:ACHE_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ACHE_HUMAN pepwheel swissprot:ACHE_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ACHE_HUMAN pepwindow swissprot:ACHE_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ACHE_HUMAN sigcleave swissprot:ACHE_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ACHE_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS IPO4_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8TEX9-1; Sequence=Displayed; Name=2; IsoId=Q8TEX9-2; Sequence=VSP_009339; Note=No experimental confirmation available.; # AltName IPO4_HUMAN Importin-4b # AltName IPO4_HUMAN Ran-binding protein 4 # BioGrid 122828 70 # CCDS CCDS9616 -. [Q8TEX9-1] # ChiTaRS IPO4 human # Ensembl ENST00000354464 ENSP00000346453; ENSG00000196497. [Q8TEX9-1] # ExpressionAtlas Q8TEX9 baseline and differential # FUNCTION IPO4_HUMAN Functions in nuclear protein import as nuclear transport receptor. Serves as receptor for nuclear localization signals (NLS) in cargo substrates. Is thought to mediate docking of the importin/substrate complex to the nuclear pore complex (NPC) through binding to nucleoporin and the complex is subsequently translocated through the pore by an energy requiring, Ran- dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to the importin, the importin/substrate complex dissociates and importin is re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus (By similarity). Mediates the nuclear import of RPS3A. In vitro, mediates the nuclear import of human cytomegalovirus UL84 by recognizing a non-classical NLS. {ECO 0000250, ECO 0000269|PubMed 11823430}. # GO_component GO:0000790 nuclear chromatin; IDA:UniProtKB. # GO_component GO:0005737 cytoplasm; IBA:GO_Central. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0031965 nuclear membrane; IBA:GO_Central. # GO_component GO:0034399 nuclear periphery; IBA:GO_Central. # GO_component GO:0043234 protein complex; IDA:UniProtKB. # GO_function GO:0008139 nuclear localization sequence binding; IBA:GO_Central. # GO_function GO:0008565 protein transporter activity; IBA:GO_Central. # GO_process GO:0000059 protein import into nucleus, docking; IBA:GO_Central. # GO_process GO:0000060 protein import into nucleus, translocation; IBA:GO_Central. # GO_process GO:0006335 DNA replication-dependent nucleosome assembly; IDA:UniProtKB. # GO_process GO:0006336 DNA replication-independent nucleosome assembly; IDA:UniProtKB. # GO_process GO:0006607 NLS-bearing protein import into nucleus; IBA:GO_Central. # GO_process GO:0006610 ribosomal protein import into nucleus; IBA:GO_Central. # GO_process GO:0015031 protein transport; NAS:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0008565 protein transporter activity # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # GOslim_process GO:0006913 nucleocytoplasmic transport # GOslim_process GO:0065003 macromolecular complex assembly # Gene3D 1.25.10.10 -; 3. # Genevisible Q8TEX9 HS # HGNC HGNC:19426 IPO4 # IntAct Q8TEX9 31 # InterPro IPR000357 HEAT # InterPro IPR001494 Importin-beta_N # InterPro IPR011989 ARM-like # InterPro IPR016024 ARM-type_fold # InterPro IPR021133 HEAT_type_2 # Organism IPO4_HUMAN Homo sapiens (Human) # PROSITE PS50077 HEAT_REPEAT; 2 # PROSITE PS50166 IMPORTIN_B_NT # Pfam PF02985 HEAT # Pfam PF03810 IBN_N # Proteomes UP000005640 Chromosome 14 # RecName IPO4_HUMAN Importin-4 # RefSeq NP_078934 NM_024658.3. [Q8TEX9-1] # SEQUENCE CAUTION IPO4_HUMAN Sequence=BAB15616.1; Type=Frameshift; Positions=234; Evidence={ECO 0000305}; Sequence=BAB55421.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO 0000305}; Sequence=BAC11174.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; Sequence=CAD62595.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the importin beta family. {ECO 0000305}. # SIMILARITY Contains 1 importin N-terminal domain. {ECO:0000255|PROSITE-ProRule PRU00115}. # SIMILARITY Contains 6 HEAT repeats. {ECO:0000255|PROSITE- ProRule PRU00103}. # SMART SM00913 IBN_N # SUBCELLULAR LOCATION IPO4_HUMAN Cytoplasm {ECO 0000250}. Nucleus {ECO 0000250}. # SUBUNIT Binds with high affinity to RPS3A. The binding is coupled to RanGTP cycles. Binds to human cytomegalovirus UL84. Found in a cytosolic complex with ASF1A, ASF1B, CDAN1 and histones H3.1 and H4. {ECO:0000269|PubMed 22407294}. # SUPFAM SSF48371 SSF48371; 2 # TCDB 1.I.1.1 the nuclear pore complex (npc) family # UCSC uc001wmv human. [Q8TEX9-1] # eggNOG ENOG410IQKY Eukaryota # eggNOG ENOG410XP2Z LUCA BLAST swissprot:IPO4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:IPO4_HUMAN COXPRESdb 79711 http://coxpresdb.jp/data/gene/79711.shtml CleanEx HS_IPO4 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_IPO4 DIP DIP-32944N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-32944N DOI 10.1021/ac9004309 http://dx.doi.org/10.1021/ac9004309 DOI 10.1038/emboj.2012.55 http://dx.doi.org/10.1038/emboj.2012.55 DOI 10.1038/nature01348 http://dx.doi.org/10.1038/nature01348 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.1210303109 http://dx.doi.org/10.1073/pnas.1210303109 DOI 10.1074/mcp.M111.015131 http://dx.doi.org/10.1074/mcp.M111.015131 DOI 10.1093/emboj/21.3.377 http://dx.doi.org/10.1093/emboj/21.3.377 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1128/JVI.77.6.3734-3748.2003 http://dx.doi.org/10.1128/JVI.77.6.3734-3748.2003 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AF411122 http://www.ebi.ac.uk/ena/data/view/AF411122 EMBL AK026991 http://www.ebi.ac.uk/ena/data/view/AK026991 EMBL AK027871 http://www.ebi.ac.uk/ena/data/view/AK027871 EMBL AK074743 http://www.ebi.ac.uk/ena/data/view/AK074743 EMBL AL136295 http://www.ebi.ac.uk/ena/data/view/AL136295 EMBL BC003690 http://www.ebi.ac.uk/ena/data/view/BC003690 EMBL BC110804 http://www.ebi.ac.uk/ena/data/view/BC110804 EMBL BC136759 http://www.ebi.ac.uk/ena/data/view/BC136759 EMBL BX248267 http://www.ebi.ac.uk/ena/data/view/BX248267 EMBL CH471078 http://www.ebi.ac.uk/ena/data/view/CH471078 Ensembl ENST00000354464 http://www.ensembl.org/id/ENST00000354464 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000790 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000790 GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0031965 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031965 GO_component GO:0034399 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034399 GO_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GO_function GO:0008139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008139 GO_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GO_process GO:0000059 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000059 GO_process GO:0000060 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000060 GO_process GO:0006335 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006335 GO_process GO:0006336 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006336 GO_process GO:0006607 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006607 GO_process GO:0006610 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006610 GO_process GO:0015031 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015031 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006913 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006913 GOslim_process GO:0065003 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0065003 Gene3D 1.25.10.10 http://www.cathdb.info/version/latest/superfamily/1.25.10.10 GeneCards IPO4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=IPO4 GeneID 79711 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=79711 GeneTree ENSGT00550000075074 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000075074 HGNC HGNC:19426 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:19426 HOVERGEN HBG049052 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG049052&db=HOVERGEN HPA HPA039043 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA039043 HPA HPA039044 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA039044 InParanoid Q8TEX9 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8TEX9 IntAct Q8TEX9 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q8TEX9* InterPro IPR000357 http://www.ebi.ac.uk/interpro/entry/IPR000357 InterPro IPR001494 http://www.ebi.ac.uk/interpro/entry/IPR001494 InterPro IPR011989 http://www.ebi.ac.uk/interpro/entry/IPR011989 InterPro IPR016024 http://www.ebi.ac.uk/interpro/entry/IPR016024 InterPro IPR021133 http://www.ebi.ac.uk/interpro/entry/IPR021133 Jabion 79711 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=79711 KEGG_Gene hsa:79711 http://www.genome.jp/dbget-bin/www_bget?hsa:79711 MINT MINT-3045897 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-3045897 OMA RPAQEYF http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=RPAQEYF OrthoDB EOG091G012W http://cegg.unige.ch/orthodb/results?searchtext=EOG091G012W PROSITE PS50077 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50077 PROSITE PS50166 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50166 PSORT swissprot:IPO4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:IPO4_HUMAN PSORT-B swissprot:IPO4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:IPO4_HUMAN PSORT2 swissprot:IPO4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:IPO4_HUMAN Pfam PF02985 http://pfam.xfam.org/family/PF02985 Pfam PF03810 http://pfam.xfam.org/family/PF03810 PharmGKB PA134968932 http://www.pharmgkb.org/do/serve?objId=PA134968932&objCls=Gene Phobius swissprot:IPO4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:IPO4_HUMAN PhylomeDB Q8TEX9 http://phylomedb.org/?seqid=Q8TEX9 ProteinModelPortal Q8TEX9 http://www.proteinmodelportal.org/query/uniprot/Q8TEX9 PubMed 11823430 http://www.ncbi.nlm.nih.gov/pubmed/11823430 PubMed 12508121 http://www.ncbi.nlm.nih.gov/pubmed/12508121 PubMed 12610148 http://www.ncbi.nlm.nih.gov/pubmed/12610148 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 19413330 http://www.ncbi.nlm.nih.gov/pubmed/19413330 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 22223895 http://www.ncbi.nlm.nih.gov/pubmed/22223895 PubMed 22407294 http://www.ncbi.nlm.nih.gov/pubmed/22407294 PubMed 22814378 http://www.ncbi.nlm.nih.gov/pubmed/22814378 RefSeq NP_078934 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_078934 SMART SM00913 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00913 SMR Q8TEX9 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q8TEX9 STRING 9606.ENSP00000346453 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000346453&targetmode=cogs SUPFAM SSF48371 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48371 TCDB 1.I.1.1 http://www.tcdb.org/search/result.php?tc=1.I.1.1 UCSC uc001wmv http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001wmv&org=rat UniGene Hs.411865 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.411865 UniProtKB IPO4_HUMAN http://www.uniprot.org/uniprot/IPO4_HUMAN UniProtKB-AC Q8TEX9 http://www.uniprot.org/uniprot/Q8TEX9 charge swissprot:IPO4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:IPO4_HUMAN eggNOG ENOG410IQKY http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IQKY eggNOG ENOG410XP2Z http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XP2Z epestfind swissprot:IPO4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:IPO4_HUMAN garnier swissprot:IPO4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:IPO4_HUMAN helixturnhelix swissprot:IPO4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:IPO4_HUMAN hmoment swissprot:IPO4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:IPO4_HUMAN iep swissprot:IPO4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:IPO4_HUMAN inforesidue swissprot:IPO4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:IPO4_HUMAN neXtProt NX_Q8TEX9 http://www.nextprot.org/db/entry/NX_Q8TEX9 octanol swissprot:IPO4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:IPO4_HUMAN pepcoil swissprot:IPO4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:IPO4_HUMAN pepdigest swissprot:IPO4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:IPO4_HUMAN pepinfo swissprot:IPO4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:IPO4_HUMAN pepnet swissprot:IPO4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:IPO4_HUMAN pepstats swissprot:IPO4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:IPO4_HUMAN pepwheel swissprot:IPO4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:IPO4_HUMAN pepwindow swissprot:IPO4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:IPO4_HUMAN sigcleave swissprot:IPO4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:IPO4_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS ABCG2_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9UNQ0-1; Sequence=Displayed; Name=2; IsoId=Q9UNQ0-2; Sequence=VSP_014232, VSP_014233; Note=No experimental confirmation available.; # AltName ABCG2_HUMAN Breast cancer resistance protein # AltName ABCG2_HUMAN CD338 # AltName ABCG2_HUMAN CDw338 # AltName ABCG2_HUMAN Mitoxantrone resistance-associated protein # AltName ABCG2_HUMAN Placenta-specific ATP-binding cassette transporter # AltName ABCG2_HUMAN Urate exporter # BioGrid 114821 17 # CCDS CCDS3628 -. [Q9UNQ0-1] # CCDS CCDS58910 -. [Q9UNQ0-2] # ChiTaRS ABCG2 human # DOMAIN ABCG2_HUMAN The extracellular loop 3 (ECL3) is involved in binding porphyrins and transfer them to other carriers, probably albumin. {ECO 0000269|PubMed 20705604}. # DrugBank DB00091 Cyclosporine # DrugBank DB00158 Folic Acid # DrugBank DB00175 Pravastatin # DrugBank DB00213 Pantoprazole # DrugBank DB00220 Nelfinavir # DrugBank DB00242 Cladribine # DrugBank DB00255 Diethylstilbestrol # DrugBank DB00285 Venlafaxine # DrugBank DB00286 Conjugated Estrogens # DrugBank DB00317 Gefitinib # DrugBank DB00338 Omeprazole # DrugBank DB00398 Sorafenib # DrugBank DB00444 Teniposide # DrugBank DB00448 Lansoprazole # DrugBank DB00457 Prazosin # DrugBank DB00470 Dronabinol # DrugBank DB00495 Zidovudine # DrugBank DB00503 Ritonavir # DrugBank DB00515 Cisplatin # DrugBank DB00526 Oxaliplatin # DrugBank DB00530 Erlotinib # DrugBank DB00541 Vincristine # DrugBank DB00544 Fluorouracil # DrugBank DB00549 Zafirlukast # DrugBank DB00563 Methotrexate # DrugBank DB00602 Ivermectin # DrugBank DB00619 Imatinib # DrugBank DB00624 Testosterone # DrugBank DB00631 Clofarabine # DrugBank DB00655 Estrone # DrugBank DB00661 Verapamil # DrugBank DB00669 Sumatriptan # DrugBank DB00675 Tamoxifen # DrugBank DB00688 Mycophenolate mofetil # DrugBank DB00694 Daunorubicin # DrugBank DB00698 Nitrofurantoin # DrugBank DB00709 Lamivudine # DrugBank DB00740 Riluzole # DrugBank DB00741 Hydrocortisone # DrugBank DB00762 Irinotecan # DrugBank DB00773 Etoposide # DrugBank DB00783 Estradiol # DrugBank DB00795 Sulfasalazine # DrugBank DB00921 Buprenorphine # DrugBank DB00958 Carboplatin # DrugBank DB00966 Telmisartan # DrugBank DB00970 Dactinomycin # DrugBank DB00973 Ezetimibe # DrugBank DB00997 Doxorubicin # DrugBank DB01016 Glyburide # DrugBank DB01030 Topotecan # DrugBank DB01051 Novobiocin # DrugBank DB01094 Hesperetin # DrugBank DB01097 Leflunomide # DrugBank DB01098 Rosuvastatin # DrugBank DB01129 Rabeprazole # DrugBank DB01204 Mitoxantrone # DrugBank DB01229 Paclitaxel # DrugBank DB01232 Saquinavir # DrugBank DB01234 Dexamethasone # DrugBank DB01248 Docetaxel # DrugBank DB01254 Dasatinib # DrugBank DB01268 Sunitinib # DrugBank DB04868 Nilotinib # DrugBank DB05239 Cobimetinib # DrugBank DB05294 Vandetanib # DrugBank DB06589 Pazopanib # DrugBank DB06605 Apixaban # DrugBank DB06772 Cabazitaxel # DrugBank DB08828 Vismodegib # DrugBank DB08860 Pitavastatin # DrugBank DB08864 Rilpivirine # DrugBank DB08880 Teriflunomide # DrugBank DB08881 Vemurafenib # DrugBank DB08896 Regorafenib # DrugBank DB08901 Ponatinib # DrugBank DB08912 Dabrafenib # DrugBank DB08916 Afatinib # DrugBank DB08931 Riociguat # DrugBank DB08934 Sofosbuvir # DrugBank DB09054 Idelalisib # DrugBank DB09065 Cobicistat # DrugBank DB09078 Lenvatinib # DrugBank DB09102 Daclatasvir # DrugBank DB09291 Rolapitant # DrugBank DB09330 Osimertinib # DrugBank DB11363 Alectinib # Ensembl ENST00000237612 ENSP00000237612; ENSG00000118777. [Q9UNQ0-1] # Ensembl ENST00000515655 ENSP00000426917; ENSG00000118777. [Q9UNQ0-2] # ExpressionAtlas Q9UNQ0 baseline and differential # FUNCTION ABCG2_HUMAN High-capacity urate exporter functioning in both renal and extrarenal urate excretion. Plays a role in porphyrin homeostasis as it is able to mediates the export of protoporhyrin IX (PPIX) both from mitochondria to cytosol and from cytosol to extracellular space, and cellular export of hemin, and heme. Xenobiotic transporter that may play an important role in the exclusion of xenobiotics from the brain. Appears to play a major role in the multidrug resistance phenotype of several cancer cell lines. Implicated in the efflux of numerous drugs and xenobiotics mitoxantrone, the photosensitizer pheophorbide, camptothecin, methotrexate, azidothymidine (AZT), and the anthracyclines daunorubicin and doxorubicin. {ECO 0000269|PubMed 12958161, ECO 0000269|PubMed 20705604, ECO 0000269|PubMed 22132962, ECO 0000269|PubMed 23189181}. # GO_component GO:0005634 nucleus; IDA:HPA. # GO_component GO:0005886 plasma membrane; IDA:HPA. # GO_component GO:0016021 integral component of membrane; TAS:ProtInc. # GO_component GO:0031966 mitochondrial membrane; IEA:UniProtKB-SubCell. # GO_function GO:0005215 transporter activity; TAS:ProtInc. # GO_function GO:0005524 ATP binding; TAS:ProtInc. # GO_function GO:0008559 xenobiotic-transporting ATPase activity; TAS:ProtInc. # GO_function GO:0015232 heme transporter activity; TAS:Reactome. # GO_function GO:0042626 ATPase activity, coupled to transmembrane movement of substances; TAS:ProtInc. # GO_function GO:0042803 protein homodimerization activity; IDA:BHF-UCL. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0006879 cellular iron ion homeostasis; TAS:Reactome. # GO_process GO:0042493 response to drug; TAS:ProtInc. # GO_process GO:0046415 urate metabolic process; IMP:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0044281 small molecule metabolic process # Gene3D 3.40.50.300 -; 1. # Genevisible Q9UNQ0 HS # HGNC HGNC:74 ABCG2 # INDUCTION ABCG2_HUMAN Up-regulated in brain tumors. # INTERACTION ABCG2_HUMAN P11309-1 PIM1; NbExp=9; IntAct=EBI-1569435, EBI-1018629; P0CG48 UBC; NbExp=2; IntAct=EBI-1569435, EBI-3390054; # IntAct Q9UNQ0 19 # InterPro IPR003439 ABC_transporter-like # InterPro IPR003593 AAA+_ATPase # InterPro IPR013525 ABC_2_trans # InterPro IPR027417 P-loop_NTPase # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02000 Transporters # KEGG_Brite ko04090 Cellular antigens # KEGG_Pathway ko02010 ABC transporters # KEGG_Pathway ko04976 Bile secretion # MIM 138900 phenotype # MIM 603756 gene # MIM 614490 phenotype # MISCELLANEOUS ABCG2_HUMAN When overexpressed, the transfected cells become resistant to mitoxantrone, daunorubicin and doxorubicin. # Organism ABCG2_HUMAN Homo sapiens (Human) # POLYMORPHISM ABCG2_HUMAN Genetic variations in ABCG2 define the blood group Junior system (JR) [MIM 614490]. Individuals with Jr(a-) blood group lack the Jr(a) antigen on their red blood cells. These individuals may have anti-Jr(a) antibodies in their serum, which can cause transfusion reactions or hemolytic disease of the fetus or newborn. Although the clinical significance of the Jr(a-) blood group has been controversial, severe fatal hemolytic disease of the newborn has been reported. The Jr(a-) phenotype has a higher frequency in individuals of Asian descent, compared to those of European descent. The Jr(a-) phenotype is inherited as an autosomal recessive trait. {ECO 0000269|PubMed 22246505, ECO 0000269|PubMed 22246507}. # POLYMORPHISM ABCG2_HUMAN Genetic variations in ABCG2 influence the variance in serum uric acid concentrations and define the serum uric acid concentration quantitative trait locus 1 (UAQTL1) [MIM 138900]. Excess serum accumulation of uric acid can lead to the development of gout, a common disorder characterized by tissue deposition of monosodium urate crystals as a consequence of hyperuricemia (PubMed 18834626, PubMed 19506252, PubMed 20368174). {ECO 0000269|PubMed 18834626, ECO 0000269|PubMed 19506252, ECO 0000269|PubMed 20368174}. # PROSITE PS50893 ABC_TRANSPORTER_2 # PTM ABCG2_HUMAN Glycosylation-deficient ABCG2 is normally expressed and functional. {ECO 0000269|PubMed 15807535}. # Pfam PF00005 ABC_tran # Pfam PF01061 ABC2_membrane # Proteomes UP000005640 Chromosome 4 # Reactome R-HSA-2161517 Abacavir transmembrane transport # Reactome R-HSA-917937 Iron uptake and transport # RecName ABCG2_HUMAN ATP-binding cassette sub-family G member 2 # RefSeq NP_001244315 NM_001257386.1. [Q9UNQ0-2] # RefSeq NP_004818 NM_004827.2. [Q9UNQ0-1] # RefSeq XP_005263411 XM_005263354.3. [Q9UNQ0-1] # RefSeq XP_005263412 XM_005263355.3. [Q9UNQ0-1] # RefSeq XP_011530722 XM_011532420.2. [Q9UNQ0-1] # RefSeq XP_016864342 XM_017008853.1. [Q9UNQ0-1] # SEQUENCE CAUTION Sequence=AF093771; Type=Frameshift; Positions=486, 586; Evidence={ECO:0000305}; Sequence=AF093772; Type=Frameshift; Positions=386, 502, 586; Evidence={ECO 0000305}; # SIMILARITY Belongs to the ABC transporter superfamily. ABCG family. Eye pigment precursor importer (TC 3.A.1.204) subfamily. {ECO 0000305}. # SIMILARITY Contains 1 ABC transmembrane type-2 domain. {ECO 0000305}. # SIMILARITY Contains 1 ABC transporter domain. {ECO:0000255|PROSITE-ProRule PRU00434}. # SMART SM00382 AAA # SUBCELLULAR LOCATION ABCG2_HUMAN Cell membrane {ECO 0000269|PubMed 15001581, ECO 0000269|PubMed 15769853, ECO 0000269|PubMed 15807535}; Multi- pass membrane protein {ECO 0000255}. Mitochondrion membrane {ECO 0000269|PubMed 23189181}; Multi-pass membrane protein {ECO 0000255}. # SUBUNIT ABCG2_HUMAN Monomer under reducing conditions, the minimal functional units is a homodimer; disulfide-linked, but the major oligomeric form in plasma membranes is a homotetramer with possibility of higher order oligomerization up to homododecamers. {ECO 0000269|PubMed 15001581, ECO 0000269|PubMed 17686774}. # SUPFAM SSF52540 SSF52540 # TCDB 3.A.1.204 the atp-binding cassette (abc) superfamily # TISSUE SPECIFICITY ABCG2_HUMAN Highly expressed in placenta. Low expression in small intestine, liver and colon. {ECO 0000269|PubMed 9850061, ECO 0000269|PubMed 9861027}. # UCSC uc003hrg human. [Q9UNQ0-1] # WEB RESOURCE ABCG2_HUMAN Name=ABCMdb; Note=Database for mutations in ABC proteins; URL="http //abcmutations.hegelab.org/proteinDetails?uniprot_id=Q9UNQ0"; # WEB RESOURCE ABCG2_HUMAN Name=SeattleSNPs; URL="http //pga.gs.washington.edu/data/abcg2/"; # eggNOG COG0842 LUCA # eggNOG ENOG410IN8P Eukaryota BLAST swissprot:ABCG2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ABCG2_HUMAN BioCyc ZFISH:ENSG00000118777-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000118777-MONOMER COXPRESdb 9429 http://coxpresdb.jp/data/gene/9429.shtml DIP DIP-29162N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-29162N DOI 10.1007/s00280-004-0931-x http://dx.doi.org/10.1007/s00280-004-0931-x DOI 10.1007/s100380200041 http://dx.doi.org/10.1007/s100380200041 DOI 10.1016/S0140-6736(08)61343-4 http://dx.doi.org/10.1016/S0140-6736(08)61343-4 DOI 10.1016/j.bbamem.2004.11.005 http://dx.doi.org/10.1016/j.bbamem.2004.11.005 DOI 10.1021/bi0479858 http://dx.doi.org/10.1021/bi0479858 DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1038/ng.1070 http://dx.doi.org/10.1038/ng.1070 DOI 10.1038/ng.1075 http://dx.doi.org/10.1038/ng.1075 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1038/nm0901-1028 http://dx.doi.org/10.1038/nm0901-1028 DOI 10.1073/pnas.0901249106 http://dx.doi.org/10.1073/pnas.0901249106 DOI 10.1073/pnas.95.26.15665 http://dx.doi.org/10.1073/pnas.95.26.15665 DOI 10.1074/jbc.C700133200 http://dx.doi.org/10.1074/jbc.C700133200 DOI 10.1074/jbc.M110.139170 http://dx.doi.org/10.1074/jbc.M110.139170 DOI 10.1074/jbc.M310785200 http://dx.doi.org/10.1074/jbc.M310785200 DOI 10.1080/15257770.2011.633953 http://dx.doi.org/10.1080/15257770.2011.633953 DOI 10.1096/fj.02-1131fje http://dx.doi.org/10.1096/fj.02-1131fje DOI 10.1097/00008571-200301000-00004 http://dx.doi.org/10.1097/00008571-200301000-00004 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/scitranslmed.3000237 http://dx.doi.org/10.1126/scitranslmed.3000237 DOI 10.1242/jcs.01729 http://dx.doi.org/10.1242/jcs.01729 DOI 10.1371/journal.pone.0050082 http://dx.doi.org/10.1371/journal.pone.0050082 DOI 10.2133/dmpk.18.212 http://dx.doi.org/10.2133/dmpk.18.212 DOI 10.2133/dmpk.21.109 http://dx.doi.org/10.2133/dmpk.21.109 DrugBank DB00091 http://www.drugbank.ca/drugs/DB00091 DrugBank DB00158 http://www.drugbank.ca/drugs/DB00158 DrugBank DB00175 http://www.drugbank.ca/drugs/DB00175 DrugBank DB00213 http://www.drugbank.ca/drugs/DB00213 DrugBank DB00220 http://www.drugbank.ca/drugs/DB00220 DrugBank DB00242 http://www.drugbank.ca/drugs/DB00242 DrugBank DB00255 http://www.drugbank.ca/drugs/DB00255 DrugBank DB00285 http://www.drugbank.ca/drugs/DB00285 DrugBank DB00286 http://www.drugbank.ca/drugs/DB00286 DrugBank DB00317 http://www.drugbank.ca/drugs/DB00317 DrugBank DB00338 http://www.drugbank.ca/drugs/DB00338 DrugBank DB00398 http://www.drugbank.ca/drugs/DB00398 DrugBank DB00444 http://www.drugbank.ca/drugs/DB00444 DrugBank DB00448 http://www.drugbank.ca/drugs/DB00448 DrugBank DB00457 http://www.drugbank.ca/drugs/DB00457 DrugBank DB00470 http://www.drugbank.ca/drugs/DB00470 DrugBank DB00495 http://www.drugbank.ca/drugs/DB00495 DrugBank DB00503 http://www.drugbank.ca/drugs/DB00503 DrugBank DB00515 http://www.drugbank.ca/drugs/DB00515 DrugBank DB00526 http://www.drugbank.ca/drugs/DB00526 DrugBank DB00530 http://www.drugbank.ca/drugs/DB00530 DrugBank DB00541 http://www.drugbank.ca/drugs/DB00541 DrugBank DB00544 http://www.drugbank.ca/drugs/DB00544 DrugBank DB00549 http://www.drugbank.ca/drugs/DB00549 DrugBank DB00563 http://www.drugbank.ca/drugs/DB00563 DrugBank DB00602 http://www.drugbank.ca/drugs/DB00602 DrugBank DB00619 http://www.drugbank.ca/drugs/DB00619 DrugBank DB00624 http://www.drugbank.ca/drugs/DB00624 DrugBank DB00631 http://www.drugbank.ca/drugs/DB00631 DrugBank DB00655 http://www.drugbank.ca/drugs/DB00655 DrugBank DB00661 http://www.drugbank.ca/drugs/DB00661 DrugBank DB00669 http://www.drugbank.ca/drugs/DB00669 DrugBank DB00675 http://www.drugbank.ca/drugs/DB00675 DrugBank DB00688 http://www.drugbank.ca/drugs/DB00688 DrugBank DB00694 http://www.drugbank.ca/drugs/DB00694 DrugBank DB00698 http://www.drugbank.ca/drugs/DB00698 DrugBank DB00709 http://www.drugbank.ca/drugs/DB00709 DrugBank DB00740 http://www.drugbank.ca/drugs/DB00740 DrugBank DB00741 http://www.drugbank.ca/drugs/DB00741 DrugBank DB00762 http://www.drugbank.ca/drugs/DB00762 DrugBank DB00773 http://www.drugbank.ca/drugs/DB00773 DrugBank DB00783 http://www.drugbank.ca/drugs/DB00783 DrugBank DB00795 http://www.drugbank.ca/drugs/DB00795 DrugBank DB00921 http://www.drugbank.ca/drugs/DB00921 DrugBank DB00958 http://www.drugbank.ca/drugs/DB00958 DrugBank DB00966 http://www.drugbank.ca/drugs/DB00966 DrugBank DB00970 http://www.drugbank.ca/drugs/DB00970 DrugBank DB00973 http://www.drugbank.ca/drugs/DB00973 DrugBank DB00997 http://www.drugbank.ca/drugs/DB00997 DrugBank DB01016 http://www.drugbank.ca/drugs/DB01016 DrugBank DB01030 http://www.drugbank.ca/drugs/DB01030 DrugBank DB01051 http://www.drugbank.ca/drugs/DB01051 DrugBank DB01094 http://www.drugbank.ca/drugs/DB01094 DrugBank DB01097 http://www.drugbank.ca/drugs/DB01097 DrugBank DB01098 http://www.drugbank.ca/drugs/DB01098 DrugBank DB01129 http://www.drugbank.ca/drugs/DB01129 DrugBank DB01204 http://www.drugbank.ca/drugs/DB01204 DrugBank DB01229 http://www.drugbank.ca/drugs/DB01229 DrugBank DB01232 http://www.drugbank.ca/drugs/DB01232 DrugBank DB01234 http://www.drugbank.ca/drugs/DB01234 DrugBank DB01248 http://www.drugbank.ca/drugs/DB01248 DrugBank DB01254 http://www.drugbank.ca/drugs/DB01254 DrugBank DB01268 http://www.drugbank.ca/drugs/DB01268 DrugBank DB04868 http://www.drugbank.ca/drugs/DB04868 DrugBank DB05239 http://www.drugbank.ca/drugs/DB05239 DrugBank DB05294 http://www.drugbank.ca/drugs/DB05294 DrugBank DB06589 http://www.drugbank.ca/drugs/DB06589 DrugBank DB06605 http://www.drugbank.ca/drugs/DB06605 DrugBank DB06772 http://www.drugbank.ca/drugs/DB06772 DrugBank DB08828 http://www.drugbank.ca/drugs/DB08828 DrugBank DB08860 http://www.drugbank.ca/drugs/DB08860 DrugBank DB08864 http://www.drugbank.ca/drugs/DB08864 DrugBank DB08880 http://www.drugbank.ca/drugs/DB08880 DrugBank DB08881 http://www.drugbank.ca/drugs/DB08881 DrugBank DB08896 http://www.drugbank.ca/drugs/DB08896 DrugBank DB08901 http://www.drugbank.ca/drugs/DB08901 DrugBank DB08912 http://www.drugbank.ca/drugs/DB08912 DrugBank DB08916 http://www.drugbank.ca/drugs/DB08916 DrugBank DB08931 http://www.drugbank.ca/drugs/DB08931 DrugBank DB08934 http://www.drugbank.ca/drugs/DB08934 DrugBank DB09054 http://www.drugbank.ca/drugs/DB09054 DrugBank DB09065 http://www.drugbank.ca/drugs/DB09065 DrugBank DB09078 http://www.drugbank.ca/drugs/DB09078 DrugBank DB09102 http://www.drugbank.ca/drugs/DB09102 DrugBank DB09291 http://www.drugbank.ca/drugs/DB09291 DrugBank DB09330 http://www.drugbank.ca/drugs/DB09330 DrugBank DB11363 http://www.drugbank.ca/drugs/DB11363 EMBL AB051855 http://www.ebi.ac.uk/ena/data/view/AB051855 EMBL AB056867 http://www.ebi.ac.uk/ena/data/view/AB056867 EMBL AC084732 http://www.ebi.ac.uk/ena/data/view/AC084732 EMBL AC097484 http://www.ebi.ac.uk/ena/data/view/AC097484 EMBL AF093771 http://www.ebi.ac.uk/ena/data/view/AF093771 EMBL AF093772 http://www.ebi.ac.uk/ena/data/view/AF093772 EMBL AF098951 http://www.ebi.ac.uk/ena/data/view/AF098951 EMBL AF103796 http://www.ebi.ac.uk/ena/data/view/AF103796 EMBL AF463519 http://www.ebi.ac.uk/ena/data/view/AF463519 EMBL AK002040 http://www.ebi.ac.uk/ena/data/view/AK002040 EMBL AK290000 http://www.ebi.ac.uk/ena/data/view/AK290000 EMBL AY017168 http://www.ebi.ac.uk/ena/data/view/AY017168 EMBL AY288307 http://www.ebi.ac.uk/ena/data/view/AY288307 EMBL AY289766 http://www.ebi.ac.uk/ena/data/view/AY289766 EMBL AY333755 http://www.ebi.ac.uk/ena/data/view/AY333755 EMBL AY333756 http://www.ebi.ac.uk/ena/data/view/AY333756 EMBL BC021281 http://www.ebi.ac.uk/ena/data/view/BC021281 EMBL BC092408 http://www.ebi.ac.uk/ena/data/view/BC092408 EMBL DQ996467 http://www.ebi.ac.uk/ena/data/view/DQ996467 Ensembl ENST00000237612 http://www.ensembl.org/id/ENST00000237612 Ensembl ENST00000515655 http://www.ensembl.org/id/ENST00000515655 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0031966 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031966 GO_function GO:0005215 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005215 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0008559 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008559 GO_function GO:0015232 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015232 GO_function GO:0042626 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042626 GO_function GO:0042803 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042803 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0006879 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006879 GO_process GO:0042493 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042493 GO_process GO:0046415 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046415 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 Gene3D 3.40.50.300 http://www.cathdb.info/version/latest/superfamily/3.40.50.300 GeneCards ABCG2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ABCG2 GeneID 9429 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=9429 GeneTree ENSGT00740000114855 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00740000114855 HGNC HGNC:74 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:74 HOVERGEN HBG050441 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050441&db=HOVERGEN HPA CAB037299 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB037299 HPA HPA054719 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA054719 InParanoid Q9UNQ0 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9UNQ0 IntAct Q9UNQ0 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9UNQ0* InterPro IPR003439 http://www.ebi.ac.uk/interpro/entry/IPR003439 InterPro IPR003593 http://www.ebi.ac.uk/interpro/entry/IPR003593 InterPro IPR013525 http://www.ebi.ac.uk/interpro/entry/IPR013525 InterPro IPR027417 http://www.ebi.ac.uk/interpro/entry/IPR027417 Jabion 9429 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=9429 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Brite ko04090 http://www.genome.jp/dbget-bin/www_bget?ko04090 KEGG_Gene hsa:9429 http://www.genome.jp/dbget-bin/www_bget?hsa:9429 KEGG_Orthology KO:K05681 http://www.genome.jp/dbget-bin/www_bget?KO:K05681 KEGG_Pathway ko02010 http://www.genome.jp/kegg-bin/show_pathway?ko02010 KEGG_Pathway ko04976 http://www.genome.jp/kegg-bin/show_pathway?ko04976 MIM 138900 http://www.ncbi.nlm.nih.gov/omim/138900 MIM 603756 http://www.ncbi.nlm.nih.gov/omim/603756 MIM 614490 http://www.ncbi.nlm.nih.gov/omim/614490 MINT MINT-2840423 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-2840423 OMA VDSSFYK http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=VDSSFYK OrthoDB EOG091G08QB http://cegg.unige.ch/orthodb/results?searchtext=EOG091G08QB PROSITE PS50893 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50893 PSORT swissprot:ABCG2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ABCG2_HUMAN PSORT-B swissprot:ABCG2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ABCG2_HUMAN PSORT2 swissprot:ABCG2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ABCG2_HUMAN Pfam PF00005 http://pfam.xfam.org/family/PF00005 Pfam PF01061 http://pfam.xfam.org/family/PF01061 PharmGKB PA390 http://www.pharmgkb.org/do/serve?objId=PA390&objCls=Gene Phobius swissprot:ABCG2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ABCG2_HUMAN PhylomeDB Q9UNQ0 http://phylomedb.org/?seqid=Q9UNQ0 ProteinModelPortal Q9UNQ0 http://www.proteinmodelportal.org/query/uniprot/Q9UNQ0 PubMed 11306452 http://www.ncbi.nlm.nih.gov/pubmed/11306452 PubMed 11533706 http://www.ncbi.nlm.nih.gov/pubmed/11533706 PubMed 11590207 http://www.ncbi.nlm.nih.gov/pubmed/11590207 PubMed 12111378 http://www.ncbi.nlm.nih.gov/pubmed/12111378 PubMed 12544509 http://www.ncbi.nlm.nih.gov/pubmed/12544509 PubMed 12958161 http://www.ncbi.nlm.nih.gov/pubmed/12958161 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15001581 http://www.ncbi.nlm.nih.gov/pubmed/15001581 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15618737 http://www.ncbi.nlm.nih.gov/pubmed/15618737 PubMed 15670731 http://www.ncbi.nlm.nih.gov/pubmed/15670731 PubMed 15769853 http://www.ncbi.nlm.nih.gov/pubmed/15769853 PubMed 15807535 http://www.ncbi.nlm.nih.gov/pubmed/15807535 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 PubMed 15838659 http://www.ncbi.nlm.nih.gov/pubmed/15838659 PubMed 16702730 http://www.ncbi.nlm.nih.gov/pubmed/16702730 PubMed 17686774 http://www.ncbi.nlm.nih.gov/pubmed/17686774 PubMed 18834626 http://www.ncbi.nlm.nih.gov/pubmed/18834626 PubMed 19506252 http://www.ncbi.nlm.nih.gov/pubmed/19506252 PubMed 20368174 http://www.ncbi.nlm.nih.gov/pubmed/20368174 PubMed 20705604 http://www.ncbi.nlm.nih.gov/pubmed/20705604 PubMed 22132962 http://www.ncbi.nlm.nih.gov/pubmed/22132962 PubMed 22246505 http://www.ncbi.nlm.nih.gov/pubmed/22246505 PubMed 22246507 http://www.ncbi.nlm.nih.gov/pubmed/22246507 PubMed 22509477 http://www.ncbi.nlm.nih.gov/pubmed/22509477 PubMed 23189181 http://www.ncbi.nlm.nih.gov/pubmed/23189181 PubMed 9850061 http://www.ncbi.nlm.nih.gov/pubmed/9850061 PubMed 9861027 http://www.ncbi.nlm.nih.gov/pubmed/9861027 PubMed 9892175 http://www.ncbi.nlm.nih.gov/pubmed/9892175 Reactome R-HSA-2161517 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2161517 Reactome R-HSA-917937 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-917937 RefSeq NP_001244315 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001244315 RefSeq NP_004818 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004818 RefSeq XP_005263411 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005263411 RefSeq XP_005263412 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005263412 RefSeq XP_011530722 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011530722 RefSeq XP_016864342 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016864342 SMART SM00382 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00382 STRING 9606.ENSP00000237612 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000237612&targetmode=cogs SUPFAM SSF52540 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52540 TCDB 3.A.1.204 http://www.tcdb.org/search/result.php?tc=3.A.1.204 UCSC uc003hrg http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003hrg&org=rat UniGene Hs.480218 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.480218 UniProtKB ABCG2_HUMAN http://www.uniprot.org/uniprot/ABCG2_HUMAN UniProtKB-AC Q9UNQ0 http://www.uniprot.org/uniprot/Q9UNQ0 charge swissprot:ABCG2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ABCG2_HUMAN eggNOG COG0842 http://eggnogapi.embl.de/nog_data/html/tree/COG0842 eggNOG ENOG410IN8P http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IN8P epestfind swissprot:ABCG2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ABCG2_HUMAN garnier swissprot:ABCG2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ABCG2_HUMAN helixturnhelix swissprot:ABCG2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ABCG2_HUMAN hmoment swissprot:ABCG2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ABCG2_HUMAN iep swissprot:ABCG2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ABCG2_HUMAN inforesidue swissprot:ABCG2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ABCG2_HUMAN neXtProt NX_Q9UNQ0 http://www.nextprot.org/db/entry/NX_Q9UNQ0 octanol swissprot:ABCG2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ABCG2_HUMAN pepcoil swissprot:ABCG2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ABCG2_HUMAN pepdigest swissprot:ABCG2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ABCG2_HUMAN pepinfo swissprot:ABCG2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ABCG2_HUMAN pepnet swissprot:ABCG2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ABCG2_HUMAN pepstats swissprot:ABCG2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ABCG2_HUMAN pepwheel swissprot:ABCG2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ABCG2_HUMAN pepwindow swissprot:ABCG2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ABCG2_HUMAN sigcleave swissprot:ABCG2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ABCG2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS PK2L1_HUMAN Event=Alternative splicing; Named isoforms=5; Comment=Additional isoforms seem to exist.; Name=1; IsoId=Q9P0L9-1; Sequence=Displayed; Name=2; Synonyms=PKDLdel15, PCL-TS, Testis isoform; IsoId=Q9P0L9-2; Sequence=VSP_004730, VSP_004731; Name=3; Synonyms=PKDLdel5; IsoId=Q9P0L9-3; Sequence=VSP_004729; Name=4; Synonyms=PKDLdel456; IsoId=Q9P0L9-4; Sequence=VSP_004728; Note=Unusual intron exon spliced junction.; Name=5; Synonyms=PCL-LV, Liver isoform; IsoId=Q9P0L9-5; Sequence=VSP_053718; # AltName PK2L1_HUMAN Polycystin-2 homolog # AltName PK2L1_HUMAN Polycystin-2L1 # AltName PK2L1_HUMAN Polycystin-L # AltName PK2L1_HUMAN Polycystin-L1 # BioGrid 114499 2 # CAUTION PK2L1_HUMAN PKD1L3 and PKD2L1 have been defined as sour taste receptor in gustatory cells based on a number of indirect evidences in mouse. Some data confirm this hypothesis in human in 2 patients with sour ageusia that are unresponsive to sour stimuli, but show normal responses to bitter, sweet, and salty stimuli, expression of PKD1L3 and PKD2L1 is absent in the anterior part of the tongue (PubMed 19812697). However, a number of experiments have recently shown that the sour taste receptor activity is probably indirect. {ECO 0000305|PubMed 19812697}. # CCDS CCDS7492 -. [Q9P0L9-1] # DOMAIN PK2L1_HUMAN The EF-hand domain probably mediates calcium-binding. It is not required for channel activation (PubMed 11959145). {ECO 0000269|PubMed 11959145}. # ENZYME REGULATION PK2L1_HUMAN The calcium channel is gated following an off- response property by acid gated open after the removal of acid stimulus, but not during acid application. {ECO 0000269|PubMed 18535624, ECO 0000269|PubMed 19464260, ECO 0000269|PubMed 22420714}. # Ensembl ENST00000318222 ENSP00000325296; ENSG00000107593. [Q9P0L9-1] # ExpressionAtlas Q9P0L9 baseline and differential # FUNCTION PK2L1_HUMAN Pore-forming subunit of a ciliary calcium channel that controls calcium concentration within primary cilia without affecting cytoplasmic calcium concentration. Forms a heterodimer with PKD1L1 in primary cilia and forms a calcium-permeant ciliary channel that regulates sonic hedgehog/SHH signaling and GLI2 transcription. May act as a sour taste receptor by forming a calcium channel with PKD1L3 in gustatory cells; however, its contribution to sour taste perception is unclear in vivo and may be indirect. {ECO 0000269|PubMed 10517637, ECO 0000269|PubMed 19812697, ECO 0000269|PubMed 23212381, ECO 0000269|PubMed 24336289}. # GO_component GO:0005783 endoplasmic reticulum; ISS:BHF-UCL. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0009986 cell surface; IEA:Ensembl. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; NAS:UniProtKB. # GO_component GO:0034704 calcium channel complex; IDA:UniProtKB. # GO_component GO:0043231 intracellular membrane-bounded organelle; IDA:BHF-UCL. # GO_component GO:0043235 receptor complex; ISS:BHF-UCL. # GO_component GO:0060170 ciliary membrane; IEA:UniProtKB-SubCell. # GO_component GO:0097730 non-motile cilium; IDA:UniProtKB. # GO_function GO:0005227 calcium activated cation channel activity; IDA:BHF-UCL. # GO_function GO:0005261 cation channel activity; IDA:BHF-UCL. # GO_function GO:0005262 calcium channel activity; IDA:UniProtKB. # GO_function GO:0005272 sodium channel activity; IDA:BHF-UCL. # GO_function GO:0005509 calcium ion binding; IDA:UniProtKB. # GO_function GO:0008092 cytoskeletal protein binding; IPI:UniProtKB. # GO_function GO:0015269 calcium-activated potassium channel activity; IDA:BHF-UCL. # GO_function GO:0033040 sour taste receptor activity; IEA:Ensembl. # GO_function GO:0042802 identical protein binding; ISS:BHF-UCL. # GO_function GO:0051371 muscle alpha-actinin binding; IPI:BHF-UCL. # GO_function GO:0051393 alpha-actinin binding; IPI:BHF-UCL. # GO_process GO:0001581 detection of chemical stimulus involved in sensory perception of sour taste; ISS:BHF-UCL. # GO_process GO:0006812 cation transport; ISS:BHF-UCL. # GO_process GO:0007224 smoothened signaling pathway; ISS:UniProtKB. # GO_process GO:0035725 sodium ion transmembrane transport; IDA:BHF-UCL. # GO_process GO:0050915 sensory perception of sour taste; IMP:UniProtKB. # GO_process GO:0050982 detection of mechanical stimulus; IBA:GO_Central. # GO_process GO:0070207 protein homotrimerization; IDA:UniProtKB. # GO_process GO:0071468 cellular response to acidic pH; ISS:BHF-UCL. # GO_process GO:0071805 potassium ion transmembrane transport; IDA:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0005929 cilium # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0008092 cytoskeletal protein binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0050877 neurological system process # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.10.238.10 -; 1. # Genevisible Q9P0L9 HS # HGNC HGNC:9011 PKD2L1 # InterPro IPR003915 PKD_2 # InterPro IPR011992 EF-hand-dom_pair # InterPro IPR013122 PKD1_2_channel # KEGG_Brite ko04040 Ion channels # MIM 604532 gene # Organism PK2L1_HUMAN Homo sapiens (Human) # PDB 3TE3 X-ray; 2.69 A; A/B/C/D/E/F=699-737 # PDB 4GIF X-ray; 2.80 A; A=699-743 # PRINTS PR01433 POLYCYSTIN2 # Pfam PF08016 PKD_channel # Proteomes UP000005640 Chromosome 10 # RecName PK2L1_HUMAN Polycystic kidney disease 2-like 1 protein # RefSeq NP_001240766 NM_001253837.1 # RefSeq NP_057196 NM_016112.2. [Q9P0L9-1] # SIMILARITY Belongs to the polycystin family. {ECO 0000305}. # SIMILARITY Contains 1 EF-hand domain. {ECO 0000305}. # SUBCELLULAR LOCATION PK2L1_HUMAN Cell projection, cilium membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. Endoplasmic reticulum {ECO 0000250}. Note=Interaction with PKD1 or PKD1L3 is required for localization to the cell membrane. # SUBUNIT PK2L1_HUMAN Homotrimer; trimerization is independent of calcium- binding. Calcium channels are probably composed of 3 subunit of PKD2L1 and 1 subunit of some PKD1 protein (PKD1, PKD1L1, PKD1L2 or PKDL3). Interacts with PKD1. Interacts with PKD1L1; to form ciliary calcium channel. Interacts with PKD1L3, to form putative sour taste receptor. Interacts with RACK1; inhibits the channel activity possibly by impairing localization to the cell membrane. {ECO 0000269|PubMed 20408813, ECO 0000269|PubMed 20538909, ECO 0000269|PubMed 22174419, ECO 0000269|PubMed 22193359, ECO 0000269|PubMed 23212381, ECO 0000269|PubMed 24336289}. # TCDB 1.A.5.1 the polycystin cation channel (pcc) family # TISSUE SPECIFICITY PK2L1_HUMAN Expressed in adult heart, skeletal muscle, brain, spleen, testis, retina and liver. According to PubMed 9748274, expressed at high levels in fetal tissues, including kidney and liver, and down-regulated in adult tissues. According to PubMed 10602361, expressed in fetal brain, but not expressed in fetal lung, liver or kidney. Isoform 4 appears to be expressed only in transformed lymphoblasts. {ECO 0000269|PubMed 10602361, ECO 0000269|PubMed 9748274}. # UCSC uc001kqx human. [Q9P0L9-1] # eggNOG ENOG410XTGE LUCA # eggNOG KOG3599 Eukaryota BLAST swissprot:PK2L1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:PK2L1_HUMAN BioCyc ZFISH:ENSG00000107593-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000107593-MONOMER COXPRESdb 9033 http://coxpresdb.jp/data/gene/9033.shtml CleanEx HS_PKD2L1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_PKD2L1 DOI 10.1006/geno.1998.5618 http://dx.doi.org/10.1006/geno.1998.5618 DOI 10.1007/s003350010009 http://dx.doi.org/10.1007/s003350010009 DOI 10.1016/S0165-6147(00)01832-0 http://dx.doi.org/10.1016/S0165-6147(00)01832-0 DOI 10.1016/j.bbapap.2011.12.002 http://dx.doi.org/10.1016/j.bbapap.2011.12.002 DOI 10.1016/j.bbrc.2009.05.069 http://dx.doi.org/10.1016/j.bbrc.2009.05.069 DOI 10.1038/43907 http://dx.doi.org/10.1038/43907 DOI 10.1038/embor.2008.89 http://dx.doi.org/10.1038/embor.2008.89 DOI 10.1038/nature02462 http://dx.doi.org/10.1038/nature02462 DOI 10.1038/nature12832 http://dx.doi.org/10.1038/nature12832 DOI 10.1038/ncomms2257 http://dx.doi.org/10.1038/ncomms2257 DOI 10.1038/sj.ejhg.5200383 http://dx.doi.org/10.1038/sj.ejhg.5200383 DOI 10.1042/BJ20091843 http://dx.doi.org/10.1042/BJ20091843 DOI 10.1074/jbc.273.40.25967 http://dx.doi.org/10.1074/jbc.273.40.25967 DOI 10.1074/jbc.M111.305854 http://dx.doi.org/10.1074/jbc.M111.305854 DOI 10.1096/fj.10-162925 http://dx.doi.org/10.1096/fj.10-162925 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1742-4658.2012.08566.x http://dx.doi.org/10.1111/j.1742-4658.2012.08566.x DOI 10.1371/journal.pone.0007347 http://dx.doi.org/10.1371/journal.pone.0007347 EMBL AF053316 http://www.ebi.ac.uk/ena/data/view/AF053316 EMBL AF073481 http://www.ebi.ac.uk/ena/data/view/AF073481 EMBL AF094827 http://www.ebi.ac.uk/ena/data/view/AF094827 EMBL AF153459 http://www.ebi.ac.uk/ena/data/view/AF153459 EMBL AF153460 http://www.ebi.ac.uk/ena/data/view/AF153460 EMBL AF153461 http://www.ebi.ac.uk/ena/data/view/AF153461 EMBL AF153462 http://www.ebi.ac.uk/ena/data/view/AF153462 EMBL AF153463 http://www.ebi.ac.uk/ena/data/view/AF153463 EMBL AF153464 http://www.ebi.ac.uk/ena/data/view/AF153464 EMBL AF153465 http://www.ebi.ac.uk/ena/data/view/AF153465 EMBL AF153466 http://www.ebi.ac.uk/ena/data/view/AF153466 EMBL AF153467 http://www.ebi.ac.uk/ena/data/view/AF153467 EMBL AF153468 http://www.ebi.ac.uk/ena/data/view/AF153468 EMBL AF153469 http://www.ebi.ac.uk/ena/data/view/AF153469 EMBL AF153470 http://www.ebi.ac.uk/ena/data/view/AF153470 EMBL AF153471 http://www.ebi.ac.uk/ena/data/view/AF153471 EMBL AF153472 http://www.ebi.ac.uk/ena/data/view/AF153472 EMBL AF153473 http://www.ebi.ac.uk/ena/data/view/AF153473 EMBL AF153474 http://www.ebi.ac.uk/ena/data/view/AF153474 EMBL AL139819 http://www.ebi.ac.uk/ena/data/view/AL139819 EMBL BC025665 http://www.ebi.ac.uk/ena/data/view/BC025665 EMBL CH471066 http://www.ebi.ac.uk/ena/data/view/CH471066 Ensembl ENST00000318222 http://www.ensembl.org/id/ENST00000318222 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0009986 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009986 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0034704 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034704 GO_component GO:0043231 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043231 GO_component GO:0043235 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043235 GO_component GO:0060170 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060170 GO_component GO:0097730 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097730 GO_function GO:0005227 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005227 GO_function GO:0005261 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005261 GO_function GO:0005262 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005262 GO_function GO:0005272 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005272 GO_function GO:0005509 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005509 GO_function GO:0008092 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008092 GO_function GO:0015269 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015269 GO_function GO:0033040 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033040 GO_function GO:0042802 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042802 GO_function GO:0051371 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051371 GO_function GO:0051393 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051393 GO_process GO:0001581 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001581 GO_process GO:0006812 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006812 GO_process GO:0007224 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007224 GO_process GO:0035725 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035725 GO_process GO:0050915 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050915 GO_process GO:0050982 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050982 GO_process GO:0070207 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070207 GO_process GO:0071468 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071468 GO_process GO:0071805 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071805 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0005929 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005929 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0008092 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008092 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.10.238.10 http://www.cathdb.info/version/latest/superfamily/1.10.238.10 GeneCards PKD2L1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=PKD2L1 GeneID 9033 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=9033 GeneTree ENSGT00700000104221 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00700000104221 HGNC HGNC:9011 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:9011 HOGENOM HOG000230858 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000230858&db=HOGENOM6 HOVERGEN HBG014945 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG014945&db=HOVERGEN HPA CAB022621 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB022621 InParanoid Q9P0L9 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9P0L9 IntAct Q9P0L9 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9P0L9* InterPro IPR003915 http://www.ebi.ac.uk/interpro/entry/IPR003915 InterPro IPR011992 http://www.ebi.ac.uk/interpro/entry/IPR011992 InterPro IPR013122 http://www.ebi.ac.uk/interpro/entry/IPR013122 Jabion 9033 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=9033 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:9033 http://www.genome.jp/dbget-bin/www_bget?hsa:9033 KEGG_Orthology KO:K04990 http://www.genome.jp/dbget-bin/www_bget?KO:K04990 MIM 604532 http://www.ncbi.nlm.nih.gov/omim/604532 MINT MINT-3973148 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-3973148 OMA FIYYENM http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=FIYYENM OrthoDB EOG091G034F http://cegg.unige.ch/orthodb/results?searchtext=EOG091G034F PDB 3TE3 http://www.ebi.ac.uk/pdbe-srv/view/entry/3TE3 PDB 4GIF http://www.ebi.ac.uk/pdbe-srv/view/entry/4GIF PDBsum 3TE3 http://www.ebi.ac.uk/pdbsum/3TE3 PDBsum 4GIF http://www.ebi.ac.uk/pdbsum/4GIF PRINTS PR01433 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01433 PSORT swissprot:PK2L1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:PK2L1_HUMAN PSORT-B swissprot:PK2L1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:PK2L1_HUMAN PSORT2 swissprot:PK2L1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:PK2L1_HUMAN Pfam PF08016 http://pfam.xfam.org/family/PF08016 PharmGKB PA33344 http://www.pharmgkb.org/do/serve?objId=PA33344&objCls=Gene Phobius swissprot:PK2L1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:PK2L1_HUMAN PhylomeDB Q9P0L9 http://phylomedb.org/?seqid=Q9P0L9 ProteinModelPortal Q9P0L9 http://www.proteinmodelportal.org/query/uniprot/Q9P0L9 PubMed 10517637 http://www.ncbi.nlm.nih.gov/pubmed/10517637 PubMed 10602361 http://www.ncbi.nlm.nih.gov/pubmed/10602361 PubMed 10602992 http://www.ncbi.nlm.nih.gov/pubmed/10602992 PubMed 11698076 http://www.ncbi.nlm.nih.gov/pubmed/11698076 PubMed 11959145 http://www.ncbi.nlm.nih.gov/pubmed/11959145 PubMed 15164054 http://www.ncbi.nlm.nih.gov/pubmed/15164054 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 18535624 http://www.ncbi.nlm.nih.gov/pubmed/18535624 PubMed 19464260 http://www.ncbi.nlm.nih.gov/pubmed/19464260 PubMed 19812697 http://www.ncbi.nlm.nih.gov/pubmed/19812697 PubMed 20408813 http://www.ncbi.nlm.nih.gov/pubmed/20408813 PubMed 20538909 http://www.ncbi.nlm.nih.gov/pubmed/20538909 PubMed 22174419 http://www.ncbi.nlm.nih.gov/pubmed/22174419 PubMed 22193359 http://www.ncbi.nlm.nih.gov/pubmed/22193359 PubMed 22420714 http://www.ncbi.nlm.nih.gov/pubmed/22420714 PubMed 23212381 http://www.ncbi.nlm.nih.gov/pubmed/23212381 PubMed 24336289 http://www.ncbi.nlm.nih.gov/pubmed/24336289 PubMed 9748274 http://www.ncbi.nlm.nih.gov/pubmed/9748274 PubMed 9878261 http://www.ncbi.nlm.nih.gov/pubmed/9878261 RefSeq NP_001240766 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001240766 RefSeq NP_057196 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_057196 SMR Q9P0L9 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9P0L9 STRING 9606.ENSP00000325296 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000325296&targetmode=cogs TCDB 1.A.5.1 http://www.tcdb.org/search/result.php?tc=1.A.5.1 UCSC uc001kqx http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001kqx&org=rat UniGene Hs.159241 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.159241 UniProtKB PK2L1_HUMAN http://www.uniprot.org/uniprot/PK2L1_HUMAN UniProtKB-AC Q9P0L9 http://www.uniprot.org/uniprot/Q9P0L9 charge swissprot:PK2L1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:PK2L1_HUMAN eggNOG ENOG410XTGE http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XTGE eggNOG KOG3599 http://eggnogapi.embl.de/nog_data/html/tree/KOG3599 epestfind swissprot:PK2L1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:PK2L1_HUMAN garnier swissprot:PK2L1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:PK2L1_HUMAN helixturnhelix swissprot:PK2L1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:PK2L1_HUMAN hmoment swissprot:PK2L1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:PK2L1_HUMAN iep swissprot:PK2L1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:PK2L1_HUMAN inforesidue swissprot:PK2L1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:PK2L1_HUMAN neXtProt NX_Q9P0L9 http://www.nextprot.org/db/entry/NX_Q9P0L9 octanol swissprot:PK2L1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:PK2L1_HUMAN pepcoil swissprot:PK2L1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:PK2L1_HUMAN pepdigest swissprot:PK2L1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:PK2L1_HUMAN pepinfo swissprot:PK2L1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:PK2L1_HUMAN pepnet swissprot:PK2L1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:PK2L1_HUMAN pepstats swissprot:PK2L1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:PK2L1_HUMAN pepwheel swissprot:PK2L1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:PK2L1_HUMAN pepwindow swissprot:PK2L1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:PK2L1_HUMAN sigcleave swissprot:PK2L1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:PK2L1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS TOM40_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O96008-1; Sequence=Displayed; Name=2; IsoId=O96008-2; Sequence=VSP_008589, VSP_008590; Note=No experimental confirmation available.; # AltName TOM40_HUMAN Protein Haymaker # AltName TOM40_HUMAN Translocase of outer membrane 40 kDa subunit homolog # AltName TOM40_HUMAN p38.5 # BioGrid 115716 121 # CCDS CCDS12646 -. [O96008-1] # ChiTaRS TOMM40 human # Ensembl ENST00000252487 ENSP00000252487; ENSG00000130204. [O96008-1] # Ensembl ENST00000405636 ENSP00000385184; ENSG00000130204. [O96008-1] # Ensembl ENST00000426677 ENSP00000410339; ENSG00000130204. [O96008-1] # Ensembl ENST00000592434 ENSP00000466084; ENSG00000130204. [O96008-2] # ExpressionAtlas O96008 baseline and differential # FUNCTION TOM40_HUMAN Channel-forming protein essential for import of protein precursors into mitochondria. {ECO 0000250, ECO 0000269|PubMed 15644312}. # GO_component GO:0005654 nucleoplasm; IDA:HPA. # GO_component GO:0005737 cytoplasm; IDA:HPA. # GO_component GO:0005739 mitochondrion; IDA:HPA. # GO_component GO:0005741 mitochondrial outer membrane; TAS:Reactome. # GO_component GO:0005742 mitochondrial outer membrane translocase complex; IDA:BHF-UCL. # GO_component GO:0016021 integral component of membrane; IDA:BHF-UCL. # GO_component GO:0031307 integral component of mitochondrial outer membrane; ISS:BHF-UCL. # GO_component GO:0046930 pore complex; IEA:UniProtKB-KW. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0008320 protein transmembrane transporter activity; ISS:BHF-UCL. # GO_function GO:0015266 protein channel activity; IBA:GO_Central. # GO_function GO:0015288 porin activity; IEA:UniProtKB-KW. # GO_process GO:0006626 protein targeting to mitochondrion; IMP:UniProtKB. # GO_process GO:0006811 ion transport; IEA:UniProtKB-KW. # GO_process GO:0016236 macroautophagy; TAS:Reactome. # GO_process GO:0030150 protein import into mitochondrial matrix; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005654 nucleoplasm # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005739 mitochondrion # GOslim_component GO:0043226 organelle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0008565 protein transporter activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006605 protein targeting # GOslim_process GO:0006810 transport # GOslim_process GO:0006914 autophagy # GOslim_process GO:0055085 transmembrane transport # Gene3D 2.40.160.10 -; 1. # Genevisible O96008 HS # HGNC HGNC:18001 TOMM40 # IntAct O96008 28 # InterPro IPR023614 Porin_dom # InterPro IPR027246 Porin_Euk/Tom40 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Pathway ko05014 Amyotrophic lateral sclerosis (ALS) # MIM 608061 gene # Organism TOM40_HUMAN Homo sapiens (Human) # Pfam PF01459 Porin_3 # Proteomes UP000005640 Chromosome 19 # Reactome R-HSA-1268020 Mitochondrial protein import # Reactome R-HSA-5205685 Pink/Parkin Mediated Mitophagy # RecName TOM40_HUMAN Mitochondrial import receptor subunit TOM40 homolog # RefSeq NP_001122388 NM_001128916.1. [O96008-1] # RefSeq NP_001122389 NM_001128917.1. [O96008-1] # RefSeq NP_006105 NM_006114.2. [O96008-1] # SIMILARITY Belongs to the Tom40 family. {ECO 0000305}. # SUBCELLULAR LOCATION TOM40_HUMAN Mitochondrion outer membrane {ECO 0000269|PubMed 15644312}; Multi-pass membrane protein {ECO 0000269|PubMed 15644312}. # SUBUNIT TOM40_HUMAN Forms part of the preprotein translocase complex of the outer mitochondrial membrane (TOM complex) which consists of at least 7 different proteins (TOMM5, TOMM6, TOMM7, TOMM20, TOMM22, TOMM40 and TOMM70). Interacts with mitochondrial targeting sequences. {ECO 0000269|PubMed 12198123, ECO 0000269|PubMed 15644312, ECO 0000269|PubMed 18331822}. # TCDB 1.B.8.2 the mitochondrial and plastid porin (mpp) family # TopDownProteomics O96008-1 -. [O96008-1] # UCSC uc002ozx human. [O96008-1] # eggNOG ENOG410XS2U LUCA # eggNOG KOG3296 Eukaryota BLAST swissprot:TOM40_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:TOM40_HUMAN BioCyc ZFISH:ENSG00000130204-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000130204-MONOMER COXPRESdb 10452 http://coxpresdb.jp/data/gene/10452.shtml CleanEx HS_TOMM40 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_TOMM40 DOI 10.1002/ijc.1555 http://dx.doi.org/10.1002/ijc.1555 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1016/j.bbrc.2008.02.150 http://dx.doi.org/10.1016/j.bbrc.2008.02.150 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1074/jbc.M205613200 http://dx.doi.org/10.1074/jbc.M205613200 DOI 10.1074/jbc.M413816200 http://dx.doi.org/10.1074/jbc.M413816200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AF043250 http://www.ebi.ac.uk/ena/data/view/AF043250 EMBL AF043251 http://www.ebi.ac.uk/ena/data/view/AF043251 EMBL AF043252 http://www.ebi.ac.uk/ena/data/view/AF043252 EMBL AF043253 http://www.ebi.ac.uk/ena/data/view/AF043253 EMBL AF050154 http://www.ebi.ac.uk/ena/data/view/AF050154 EMBL AF316398 http://www.ebi.ac.uk/ena/data/view/AF316398 EMBL AF316399 http://www.ebi.ac.uk/ena/data/view/AF316399 EMBL AF316401 http://www.ebi.ac.uk/ena/data/view/AF316401 EMBL AF316402 http://www.ebi.ac.uk/ena/data/view/AF316402 EMBL BC001779 http://www.ebi.ac.uk/ena/data/view/BC001779 EMBL BC006413 http://www.ebi.ac.uk/ena/data/view/BC006413 EMBL BC012134 http://www.ebi.ac.uk/ena/data/view/BC012134 EMBL BC017224 http://www.ebi.ac.uk/ena/data/view/BC017224 EMBL BC047528 http://www.ebi.ac.uk/ena/data/view/BC047528 Ensembl ENST00000252487 http://www.ensembl.org/id/ENST00000252487 Ensembl ENST00000405636 http://www.ensembl.org/id/ENST00000405636 Ensembl ENST00000426677 http://www.ensembl.org/id/ENST00000426677 Ensembl ENST00000592434 http://www.ensembl.org/id/ENST00000592434 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005741 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005741 GO_component GO:0005742 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005742 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0031307 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031307 GO_component GO:0046930 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046930 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0008320 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008320 GO_function GO:0015266 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015266 GO_function GO:0015288 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015288 GO_process GO:0006626 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006626 GO_process GO:0006811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006811 GO_process GO:0016236 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016236 GO_process GO:0030150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030150 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006605 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006605 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006914 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006914 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 2.40.160.10 http://www.cathdb.info/version/latest/superfamily/2.40.160.10 GeneCards TOMM40 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=TOMM40 GeneID 10452 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=10452 GeneTree ENSGT00390000003308 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000003308 H-InvDB HIX0041357 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0041357 HGNC HGNC:18001 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:18001 HOGENOM HOG000007440 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000007440&db=HOGENOM6 HOVERGEN HBG054707 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG054707&db=HOVERGEN HPA CAB009156 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB009156 HPA HPA036231 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA036231 HPA HPA036232 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA036232 InParanoid O96008 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O96008 IntAct O96008 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O96008* InterPro IPR023614 http://www.ebi.ac.uk/interpro/entry/IPR023614 InterPro IPR027246 http://www.ebi.ac.uk/interpro/entry/IPR027246 Jabion 10452 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=10452 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Gene hsa:10452 http://www.genome.jp/dbget-bin/www_bget?hsa:10452 KEGG_Orthology KO:K11518 http://www.genome.jp/dbget-bin/www_bget?KO:K11518 KEGG_Pathway ko05014 http://www.genome.jp/kegg-bin/show_pathway?ko05014 MIM 608061 http://www.ncbi.nlm.nih.gov/omim/608061 MINT MINT-3003386 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-3003386 OMA GVTMRAS http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=GVTMRAS OrthoDB EOG091G0MNA http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0MNA PSORT swissprot:TOM40_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:TOM40_HUMAN PSORT-B swissprot:TOM40_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:TOM40_HUMAN PSORT2 swissprot:TOM40_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:TOM40_HUMAN Pfam PF01459 http://pfam.xfam.org/family/PF01459 PharmGKB PA38274 http://www.pharmgkb.org/do/serve?objId=PA38274&objCls=Gene Phobius swissprot:TOM40_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:TOM40_HUMAN PhylomeDB O96008 http://phylomedb.org/?seqid=O96008 ProteinModelPortal O96008 http://www.proteinmodelportal.org/query/uniprot/O96008 PubMed 10520737 http://www.ncbi.nlm.nih.gov/pubmed/10520737 PubMed 11745481 http://www.ncbi.nlm.nih.gov/pubmed/11745481 PubMed 12198123 http://www.ncbi.nlm.nih.gov/pubmed/12198123 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15644312 http://www.ncbi.nlm.nih.gov/pubmed/15644312 PubMed 18331822 http://www.ncbi.nlm.nih.gov/pubmed/18331822 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 Reactome R-HSA-1268020 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1268020 Reactome R-HSA-5205685 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5205685 RefSeq NP_001122388 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001122388 RefSeq NP_001122389 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001122389 RefSeq NP_006105 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_006105 STRING 9606.ENSP00000252487 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000252487&targetmode=cogs TCDB 1.B.8.2 http://www.tcdb.org/search/result.php?tc=1.B.8.2 UCSC uc002ozx http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002ozx&org=rat UniGene Hs.655909 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.655909 UniProtKB TOM40_HUMAN http://www.uniprot.org/uniprot/TOM40_HUMAN UniProtKB-AC O96008 http://www.uniprot.org/uniprot/O96008 charge swissprot:TOM40_HUMAN http://rest.g-language.org/emboss/charge/swissprot:TOM40_HUMAN eggNOG ENOG410XS2U http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XS2U eggNOG KOG3296 http://eggnogapi.embl.de/nog_data/html/tree/KOG3296 epestfind swissprot:TOM40_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:TOM40_HUMAN garnier swissprot:TOM40_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:TOM40_HUMAN helixturnhelix swissprot:TOM40_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:TOM40_HUMAN hmoment swissprot:TOM40_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:TOM40_HUMAN iep swissprot:TOM40_HUMAN http://rest.g-language.org/emboss/iep/swissprot:TOM40_HUMAN inforesidue swissprot:TOM40_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:TOM40_HUMAN neXtProt NX_O96008 http://www.nextprot.org/db/entry/NX_O96008 octanol swissprot:TOM40_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:TOM40_HUMAN pepcoil swissprot:TOM40_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:TOM40_HUMAN pepdigest swissprot:TOM40_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:TOM40_HUMAN pepinfo swissprot:TOM40_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:TOM40_HUMAN pepnet swissprot:TOM40_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:TOM40_HUMAN pepstats swissprot:TOM40_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:TOM40_HUMAN pepwheel swissprot:TOM40_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:TOM40_HUMAN pepwindow swissprot:TOM40_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:TOM40_HUMAN sigcleave swissprot:TOM40_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:TOM40_HUMAN ## Database ID URL or Descriptions # AltName GBRG1_HUMAN GABA(A) receptor subunit gamma-1 # DrugBank DB00186 Lorazepam # DrugBank DB00189 Ethchlorvynol # DrugBank DB00228 Enflurane # DrugBank DB00231 Temazepam # DrugBank DB00237 Butabarbital # DrugBank DB00241 Butalbital # DrugBank DB00273 Topiramate # DrugBank DB00292 Etomidate # DrugBank DB00306 Talbutal # DrugBank DB00312 Pentobarbital # DrugBank DB00334 Olanzapine # DrugBank DB00349 Clobazam # DrugBank DB00371 Meprobamate # DrugBank DB00402 Eszopiclone # DrugBank DB00404 Alprazolam # DrugBank DB00475 Chlordiazepoxide # DrugBank DB00543 Amoxapine # DrugBank DB00546 Adinazolam # DrugBank DB00628 Clorazepate # DrugBank DB00659 Acamprosate # DrugBank DB00683 Midazolam # DrugBank DB00690 Flurazepam # DrugBank DB00753 Isoflurane # DrugBank DB00794 Primidone # DrugBank DB00801 Halazepam # DrugBank DB00818 Propofol # DrugBank DB00829 Diazepam # DrugBank DB00842 Oxazepam # DrugBank DB00897 Triazolam # DrugBank DB00898 Ethanol # DrugBank DB01028 Methoxyflurane # DrugBank DB01049 Ergoloid mesylate # DrugBank DB01068 Clonazepam # DrugBank DB01107 Methyprylon # DrugBank DB01159 Halothane # DrugBank DB01189 Desflurane # DrugBank DB01205 Flumazenil # DrugBank DB01215 Estazolam # DrugBank DB01236 Sevoflurane # DrugBank DB01437 Glutethimide # DrugBank DB01558 Bromazepam # DrugBank DB01559 Clotiazepam # DrugBank DB01567 Fludiazepam # DrugBank DB01587 Ketazolam # DrugBank DB01588 Prazepam # DrugBank DB01589 Quazepam # DrugBank DB01594 Cinolazepam # DrugBank DB01595 Nitrazepam # Ensembl ENST00000295452 ENSP00000295452; ENSG00000163285 # FUNCTION GBRG1_HUMAN GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0034707 chloride channel complex; IEA:UniProtKB-KW. # GO_component GO:0045211 postsynaptic membrane; IEA:UniProtKB-SubCell. # GO_component GO:1902711 GABA-A receptor complex; IBA:GO_Central. # GO_function GO:0004890 GABA-A receptor activity; IEA:Ensembl. # GO_function GO:0005230 extracellular ligand-gated ion channel activity; IEA:InterPro. # GO_function GO:0005254 chloride channel activity; IEA:UniProtKB-KW. # GO_process GO:0007214 gamma-aminobutyric acid signaling pathway; IEA:InterPro. # GO_process GO:0007268 chemical synaptic transmission; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0007267 cell-cell signaling # Gene3D 2.70.170.10 -; 1. # Genevisible Q8N1C3 HS # HGNC HGNC:4086 GABRG1 # InterPro IPR005437 GABBAg_rcpt # InterPro IPR005438 GABBAg1_rcpt # InterPro IPR006028 GABAA/Glycine_rcpt # InterPro IPR006029 Neurotrans-gated_channel_TM # InterPro IPR006201 Neur_channel # InterPro IPR006202 Neur_chan_lig-bd # InterPro IPR018000 Neurotransmitter_ion_chnl_CS # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04080 Neuroactive ligand-receptor interaction # KEGG_Pathway ko04723 Retrograde endocannabinoid signaling # KEGG_Pathway ko04727 GABAergic synapse # KEGG_Pathway ko05032 Morphine addiction # KEGG_Pathway ko05033 Nicotine addiction # MIM 137166 gene # MISCELLANEOUS GBRG1_HUMAN This subunit carries the benzodiazepine binding site. # Organism GBRG1_HUMAN Homo sapiens (Human) # PANTHER PTHR18945 PTHR18945 # PRINTS PR00252 NRIONCHANNEL # PRINTS PR00253 GABAARECEPTR # PRINTS PR01620 GABAARGAMMA # PRINTS PR01621 GABAARGAMMA1 # PROSITE PS00236 NEUROTR_ION_CHANNEL # PTM GBRG1_HUMAN May be palmitoylated. {ECO 0000250}. # Pfam PF02931 Neur_chan_LBD # Pfam PF02932 Neur_chan_memb # Proteomes UP000005640 Chromosome 4 # RecName GBRG1_HUMAN Gamma-aminobutyric acid receptor subunit gamma-1 # RefSeq NP_775807 NM_173536.3 # SIMILARITY Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRG1 sub-subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION GBRG1_HUMAN Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. # SUBUNIT Generally pentameric. There are five types of GABA(A) receptor chains alpha, beta, gamma, delta, and rho. # SUPFAM SSF63712 SSF63712 # SUPFAM SSF90112 SSF90112 # TIGRFAMs TIGR00860 LIC # UCSC uc003gxb human # WEB RESOURCE GBRG1_HUMAN Name=Protein Spotlight; Note=Forbidden fruit - Issue 56 of March 2005; URL="http //web.expasy.org/spotlight/back_issues/056"; # eggNOG ENOG410XNQG LUCA # eggNOG KOG3642 Eukaryota BLAST swissprot:GBRG1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:GBRG1_HUMAN BioCyc ZFISH:ENSG00000163285-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000163285-MONOMER COXPRESdb 2565 http://coxpresdb.jp/data/gene/2565.shtml CleanEx HS_GABRG1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_GABRG1 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 DrugBank DB00186 http://www.drugbank.ca/drugs/DB00186 DrugBank DB00189 http://www.drugbank.ca/drugs/DB00189 DrugBank DB00228 http://www.drugbank.ca/drugs/DB00228 DrugBank DB00231 http://www.drugbank.ca/drugs/DB00231 DrugBank DB00237 http://www.drugbank.ca/drugs/DB00237 DrugBank DB00241 http://www.drugbank.ca/drugs/DB00241 DrugBank DB00273 http://www.drugbank.ca/drugs/DB00273 DrugBank DB00292 http://www.drugbank.ca/drugs/DB00292 DrugBank DB00306 http://www.drugbank.ca/drugs/DB00306 DrugBank DB00312 http://www.drugbank.ca/drugs/DB00312 DrugBank DB00334 http://www.drugbank.ca/drugs/DB00334 DrugBank DB00349 http://www.drugbank.ca/drugs/DB00349 DrugBank DB00371 http://www.drugbank.ca/drugs/DB00371 DrugBank DB00402 http://www.drugbank.ca/drugs/DB00402 DrugBank DB00404 http://www.drugbank.ca/drugs/DB00404 DrugBank DB00475 http://www.drugbank.ca/drugs/DB00475 DrugBank DB00543 http://www.drugbank.ca/drugs/DB00543 DrugBank DB00546 http://www.drugbank.ca/drugs/DB00546 DrugBank DB00628 http://www.drugbank.ca/drugs/DB00628 DrugBank DB00659 http://www.drugbank.ca/drugs/DB00659 DrugBank DB00683 http://www.drugbank.ca/drugs/DB00683 DrugBank DB00690 http://www.drugbank.ca/drugs/DB00690 DrugBank DB00753 http://www.drugbank.ca/drugs/DB00753 DrugBank DB00794 http://www.drugbank.ca/drugs/DB00794 DrugBank DB00801 http://www.drugbank.ca/drugs/DB00801 DrugBank DB00818 http://www.drugbank.ca/drugs/DB00818 DrugBank DB00829 http://www.drugbank.ca/drugs/DB00829 DrugBank DB00842 http://www.drugbank.ca/drugs/DB00842 DrugBank DB00897 http://www.drugbank.ca/drugs/DB00897 DrugBank DB00898 http://www.drugbank.ca/drugs/DB00898 DrugBank DB01028 http://www.drugbank.ca/drugs/DB01028 DrugBank DB01049 http://www.drugbank.ca/drugs/DB01049 DrugBank DB01068 http://www.drugbank.ca/drugs/DB01068 DrugBank DB01107 http://www.drugbank.ca/drugs/DB01107 DrugBank DB01159 http://www.drugbank.ca/drugs/DB01159 DrugBank DB01189 http://www.drugbank.ca/drugs/DB01189 DrugBank DB01205 http://www.drugbank.ca/drugs/DB01205 DrugBank DB01215 http://www.drugbank.ca/drugs/DB01215 DrugBank DB01236 http://www.drugbank.ca/drugs/DB01236 DrugBank DB01437 http://www.drugbank.ca/drugs/DB01437 DrugBank DB01558 http://www.drugbank.ca/drugs/DB01558 DrugBank DB01559 http://www.drugbank.ca/drugs/DB01559 DrugBank DB01567 http://www.drugbank.ca/drugs/DB01567 DrugBank DB01587 http://www.drugbank.ca/drugs/DB01587 DrugBank DB01588 http://www.drugbank.ca/drugs/DB01588 DrugBank DB01589 http://www.drugbank.ca/drugs/DB01589 DrugBank DB01594 http://www.drugbank.ca/drugs/DB01594 DrugBank DB01595 http://www.drugbank.ca/drugs/DB01595 EMBL AK122845 http://www.ebi.ac.uk/ena/data/view/AK122845 EMBL BC031087 http://www.ebi.ac.uk/ena/data/view/BC031087 EMBL CH471069 http://www.ebi.ac.uk/ena/data/view/CH471069 EMBL CR933628 http://www.ebi.ac.uk/ena/data/view/CR933628 Ensembl ENST00000295452 http://www.ensembl.org/id/ENST00000295452 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0034707 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034707 GO_component GO:0045211 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045211 GO_component GO:1902711 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902711 GO_function GO:0004890 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004890 GO_function GO:0005230 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005230 GO_function GO:0005254 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005254 GO_process GO:0007214 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007214 GO_process GO:0007268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007268 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 Gene3D 2.70.170.10 http://www.cathdb.info/version/latest/superfamily/2.70.170.10 GeneCards GABRG1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=GABRG1 GeneID 2565 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=2565 GeneTree ENSGT00760000119010 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119010 HGNC HGNC:4086 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:4086 HOGENOM HOG000231337 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231337&db=HOGENOM6 HOVERGEN HBG051707 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG051707&db=HOVERGEN HPA HPA035622 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA035622 InParanoid Q8N1C3 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8N1C3 InterPro IPR005437 http://www.ebi.ac.uk/interpro/entry/IPR005437 InterPro IPR005438 http://www.ebi.ac.uk/interpro/entry/IPR005438 InterPro IPR006028 http://www.ebi.ac.uk/interpro/entry/IPR006028 InterPro IPR006029 http://www.ebi.ac.uk/interpro/entry/IPR006029 InterPro IPR006201 http://www.ebi.ac.uk/interpro/entry/IPR006201 InterPro IPR006202 http://www.ebi.ac.uk/interpro/entry/IPR006202 InterPro IPR018000 http://www.ebi.ac.uk/interpro/entry/IPR018000 Jabion 2565 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=2565 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:2565 http://www.genome.jp/dbget-bin/www_bget?hsa:2565 KEGG_Orthology KO:K05186 http://www.genome.jp/dbget-bin/www_bget?KO:K05186 KEGG_Pathway ko04080 http://www.genome.jp/kegg-bin/show_pathway?ko04080 KEGG_Pathway ko04723 http://www.genome.jp/kegg-bin/show_pathway?ko04723 KEGG_Pathway ko04727 http://www.genome.jp/kegg-bin/show_pathway?ko04727 KEGG_Pathway ko05032 http://www.genome.jp/kegg-bin/show_pathway?ko05032 KEGG_Pathway ko05033 http://www.genome.jp/kegg-bin/show_pathway?ko05033 MIM 137166 http://www.ncbi.nlm.nih.gov/omim/137166 OMA VRLMFLL http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=VRLMFLL OrthoDB EOG091G0805 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0805 PANTHER PTHR18945 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR18945 PRINTS PR00252 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00252 PRINTS PR00253 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00253 PRINTS PR01620 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01620 PRINTS PR01621 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01621 PROSITE PS00236 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00236 PSORT swissprot:GBRG1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:GBRG1_HUMAN PSORT-B swissprot:GBRG1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:GBRG1_HUMAN PSORT2 swissprot:GBRG1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:GBRG1_HUMAN Pfam PF02931 http://pfam.xfam.org/family/PF02931 Pfam PF02932 http://pfam.xfam.org/family/PF02932 PharmGKB PA28500 http://www.pharmgkb.org/do/serve?objId=PA28500&objCls=Gene Phobius swissprot:GBRG1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:GBRG1_HUMAN PhylomeDB Q8N1C3 http://phylomedb.org/?seqid=Q8N1C3 ProteinModelPortal Q8N1C3 http://www.proteinmodelportal.org/query/uniprot/Q8N1C3 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 RefSeq NP_775807 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_775807 STRING 9606.ENSP00000295452 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000295452&targetmode=cogs SUPFAM SSF63712 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF63712 SUPFAM SSF90112 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF90112 TIGRFAMs TIGR00860 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00860 UCSC uc003gxb http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003gxb&org=rat UniGene Hs.375051 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.375051 UniProtKB GBRG1_HUMAN http://www.uniprot.org/uniprot/GBRG1_HUMAN UniProtKB-AC Q8N1C3 http://www.uniprot.org/uniprot/Q8N1C3 charge swissprot:GBRG1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:GBRG1_HUMAN eggNOG ENOG410XNQG http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XNQG eggNOG KOG3642 http://eggnogapi.embl.de/nog_data/html/tree/KOG3642 epestfind swissprot:GBRG1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:GBRG1_HUMAN garnier swissprot:GBRG1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:GBRG1_HUMAN helixturnhelix swissprot:GBRG1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:GBRG1_HUMAN hmoment swissprot:GBRG1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:GBRG1_HUMAN iep swissprot:GBRG1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:GBRG1_HUMAN inforesidue swissprot:GBRG1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:GBRG1_HUMAN neXtProt NX_Q8N1C3 http://www.nextprot.org/db/entry/NX_Q8N1C3 octanol swissprot:GBRG1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:GBRG1_HUMAN pepcoil swissprot:GBRG1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:GBRG1_HUMAN pepdigest swissprot:GBRG1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:GBRG1_HUMAN pepinfo swissprot:GBRG1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:GBRG1_HUMAN pepnet swissprot:GBRG1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:GBRG1_HUMAN pepstats swissprot:GBRG1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:GBRG1_HUMAN pepwheel swissprot:GBRG1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:GBRG1_HUMAN pepwindow swissprot:GBRG1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:GBRG1_HUMAN sigcleave swissprot:GBRG1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:GBRG1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS AT1A1_HUMAN Event=Alternative splicing; Named isoforms=4; Name=1; Synonyms=Long; IsoId=P05023-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=P05023-2; Sequence=VSP_000415, VSP_000416; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=3; IsoId=P05023-3; Sequence=VSP_044242; Name=4; IsoId=P05023-4; Sequence=VSP_047309; # AltName AT1A1_HUMAN Sodium pump subunit alpha-1 # BioGrid 106966 120 # CATALYTIC ACTIVITY AT1A1_HUMAN ATP + H(2)O + Na(+)(In) + K(+)(Out) = ADP + phosphate + Na(+)(Out) + K(+)(In). # CCDS CCDS53351 -. [P05023-4] # CCDS CCDS53352 -. [P05023-3] # CCDS CCDS887 -. [P05023-1] # ChiTaRS ATP1A1 human # DrugBank DB00390 Digoxin # DrugBank DB00511 Acetyldigitoxin # DrugBank DB00774 Hydroflumethiazide # DrugBank DB00903 Ethacrynic acid # DrugBank DB01021 Trichlormethiazide # DrugBank DB01078 Deslanoside # DrugBank DB01092 Ouabain # DrugBank DB01119 Diazoxide # DrugBank DB01158 Bretylium # DrugBank DB01188 Ciclopirox # DrugBank DB01244 Bepridil # DrugBank DB01345 Potassium # DrugBank DB01370 Aluminium # DrugBank DB01396 Digitoxin # DrugBank DB01430 Almitrine # Ensembl ENST00000295598 ENSP00000295598; ENSG00000163399. [P05023-1] # Ensembl ENST00000369496 ENSP00000358508; ENSG00000163399. [P05023-3] # Ensembl ENST00000537345 ENSP00000445306; ENSG00000163399. [P05023-4] # ExpressionAtlas P05023 baseline and differential # FUNCTION AT1A1_HUMAN This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of sodium and potassium ions, providing the energy for active transport of various nutrients. # GO_component AT1A1_HUMAN GO 0005890 sodium potassium-exchanging ATPase complex; IDA BHF-UCL. # GO_component GO:0005768 endosome; IEA:Ensembl. # GO_component GO:0005783 endoplasmic reticulum; ISS:BHF-UCL. # GO_component GO:0005794 Golgi apparatus; ISS:BHF-UCL. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0005901 caveola; IEA:Ensembl. # GO_component GO:0014069 postsynaptic density; IEA:Ensembl. # GO_component GO:0014704 intercalated disc; IEA:Ensembl. # GO_component GO:0016020 membrane; TAS:ProtInc. # GO_component GO:0016021 integral component of membrane; ISS:UniProtKB. # GO_component GO:0016323 basolateral plasma membrane; IEA:Ensembl. # GO_component GO:0016324 apical plasma membrane; IEA:Ensembl. # GO_component GO:0030315 T-tubule; IEA:Ensembl. # GO_component GO:0042383 sarcolemma; ISS:BHF-UCL. # GO_component GO:0042470 melanosome; IEA:UniProtKB-SubCell. # GO_component GO:0043209 myelin sheath; IEA:Ensembl. # GO_component GO:0043231 intracellular membrane-bounded organelle; IBA:GO_Central. # GO_component GO:0043234 protein complex; IDA:MGI. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_component GO:1903561 extracellular vesicle; IDA:UniProtKB. # GO_function AT1A1_HUMAN GO 0005391 sodium potassium-exchanging ATPase activity; ISS UniProtKB. # GO_function GO:0005524 ATP binding; ISS:BHF-UCL. # GO_function GO:0016791 phosphatase activity; IEA:Ensembl. # GO_function GO:0030955 potassium ion binding; ISS:BHF-UCL. # GO_function GO:0031402 sodium ion binding; ISS:BHF-UCL. # GO_function GO:0043531 ADP binding; IEA:Ensembl. # GO_function GO:0051087 chaperone binding; IPI:BHF-UCL. # GO_function GO:1990239 steroid hormone binding; IDA:BHF-UCL. # GO_process GO:0002026 regulation of the force of heart contraction; IEA:Ensembl. # GO_process GO:0002028 regulation of sodium ion transport; ISS:UniProtKB. # GO_process GO:0006883 cellular sodium ion homeostasis; IDA:BHF-UCL. # GO_process GO:0008217 regulation of blood pressure; IEA:Ensembl. # GO_process GO:0010107 potassium ion import; IDA:BHF-UCL. # GO_process GO:0015991 ATP hydrolysis coupled proton transport; IBA:GO_Central. # GO_process GO:0030007 cellular potassium ion homeostasis; IDA:BHF-UCL. # GO_process GO:0031947 negative regulation of glucocorticoid biosynthetic process; IEA:Ensembl. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0036376 sodium ion export from cell; IDA:BHF-UCL. # GO_process GO:0042493 response to drug; IEA:Ensembl. # GO_process GO:0045822 negative regulation of heart contraction; IEA:Ensembl. # GO_process GO:0045823 positive regulation of heart contraction; IEA:Ensembl. # GO_process GO:0045989 positive regulation of striated muscle contraction; IEA:Ensembl. # GO_process GO:0055119 relaxation of cardiac muscle; TAS:BHF-UCL. # GO_process GO:0060048 cardiac muscle contraction; TAS:BHF-UCL. # GO_process GO:0060081 membrane hyperpolarization; IEA:Ensembl. # GO_process GO:0071260 cellular response to mechanical stimulus; IEA:Ensembl. # GO_process GO:0071383 cellular response to steroid hormone stimulus; IDA:BHF-UCL. # GO_process GO:0086004 regulation of cardiac muscle cell contraction; IEA:Ensembl. # GO_process GO:0086009 membrane repolarization; IDA:BHF-UCL. # GO_process GO:0086013 membrane repolarization during cardiac muscle cell action potential; IC:BHF-UCL. # GO_process GO:0086064 cell communication by electrical coupling involved in cardiac conduction; TAS:BHF-UCL. # GO_process GO:1903416 response to glycoside; IDA:BHF-UCL. # GO_process GO:1903779 regulation of cardiac conduction; TAS:Reactome. # GO_process GO:1990573 potassium ion import across plasma membrane; ISS:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005768 endosome # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_component GO:0005794 Golgi apparatus # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0031410 cytoplasmic vesicle # GOslim_component GO:0043226 organelle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0008289 lipid binding # GOslim_function GO:0016791 phosphatase activity # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.20.1110.10 -; 2. # Gene3D 2.70.150.10 -; 2. # Gene3D 3.40.1110.10 -; 1. # Genevisible P05023 HS # HGNC HGNC:799 ATP1A1 # INTERACTION AT1A1_HUMAN P13693 TPT1; NbExp=5; IntAct=EBI-358778, EBI-1783169; # IntAct P05023 58 # InterPro IPR001757 P_typ_ATPase # InterPro IPR004014 ATPase_P-typ_cation-transptr_N # InterPro IPR005775 P-type_ATPase_IIC # InterPro IPR006068 ATPase_P-typ_cation-transptr_C # InterPro IPR008250 ATPase_P-typ_transduc_dom_A # InterPro IPR018303 ATPase_P-typ_P_site # InterPro IPR023214 HAD-like_dom # InterPro IPR023298 ATPase_P-typ_TM_dom # InterPro IPR023299 ATPase_P-typ_cyto_domN # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko01000 Enzymes # KEGG_Disease H01603 [Endocrine disease] Primary aldosteronism # KEGG_Pathway ko04260 Cardiac muscle contraction # KEGG_Pathway ko04960 Aldosterone-regulated sodium reabsorption # KEGG_Pathway ko04961 Endocrine and other factor-regulated calcium reabsorption # KEGG_Pathway ko04964 Proximal tubule bicarbonate reclamation # KEGG_Pathway ko04970 Salivary secretion # KEGG_Pathway ko04971 Gastric acid secretion # KEGG_Pathway ko04972 Pancreatic secretion # KEGG_Pathway ko04973 Carbohydrate digestion and absorption # KEGG_Pathway ko04974 Protein digestion and absorption # KEGG_Pathway ko04976 Bile secretion # KEGG_Pathway ko04978 Mineral absorption # MIM 182310 gene # Organism AT1A1_HUMAN Homo sapiens (Human) # Orphanet 85142 Aldosterone-producing adenoma # PIR A24414 A24414 # PROSITE PS00154 ATPASE_E1_E2 # PTM AT1A1_HUMAN Phosphorylation on Tyr-10 modulates pumping activity. Phosphorylation of Ser-943 by PKA modulates the response of ATP1A1 to PKC. Dephosphorylation by protein phosphatase 2A (PP2A) following increases in intracellular sodium, leading to increase catalytic activity (By similarity). {ECO 0000250}. # Pfam PF00122 E1-E2_ATPase # Pfam PF00689 Cation_ATPase_C # Pfam PF00690 Cation_ATPase_N # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-5578775 Ion homeostasis # Reactome R-HSA-936837 Ion transport by P-type ATPases # RecName AT1A1_HUMAN Sodium/potassium-transporting ATPase subunit alpha-1 # RefSeq NP_000692 NM_000701.7. [P05023-1] # RefSeq NP_001153705 NM_001160233.1. [P05023-4] # RefSeq NP_001153706 NM_001160234.1. [P05023-3] # RefSeq XP_016856849 XM_017001360.1. [P05023-3] # RefSeq XP_016856850 XM_017001361.1. [P05023-3] # SIMILARITY Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIC subfamily. {ECO 0000305}. # SMART SM00831 Cation_ATPase_N # SUBCELLULAR LOCATION AT1A1_HUMAN Cell membrane {ECO 0000269|PubMed 7711835}; Multi-pass membrane protein {ECO 0000255}. Melanosome {ECO 0000269|PubMed 17081065}. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. {ECO 0000269|PubMed 17081065}. # SUBUNIT AT1A1_HUMAN Interacts with SIK1 (By similarity). Composed of three subunits alpha (catalytic), beta and gamma. Binds the HLA class II histocompatibility antigen, DR1. Interacts with SLC35G1 and STIM1. {ECO 0000250, ECO 0000269|PubMed 1380674, ECO 0000269|PubMed 22084111}. # SUPFAM SSF56784 SSF56784; 3 # SUPFAM SSF81660 SSF81660 # TCDB 3.A.3.1 the p-type atpase (p-atpase) superfamily # TIGRFAMs TIGR01106 ATPase-IIC_X-K # TIGRFAMs TIGR01494 ATPase_P-type; 2 # UCSC uc001ege human. [P05023-1] # eggNOG COG0474 LUCA # eggNOG KOG0203 Eukaryota BLAST swissprot:AT1A1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:AT1A1_HUMAN BioCyc ZFISH:HS08843-MONOMER http://biocyc.org/getid?id=ZFISH:HS08843-MONOMER COXPRESdb 476 http://coxpresdb.jp/data/gene/476.shtml CleanEx HS_ATP1A1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ATP1A1 DIP DIP-38196N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-38196N DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1016/0014-5793(87)80677-4 http://dx.doi.org/10.1016/0014-5793(87)80677-4 DOI 10.1016/0378-1119(94)00812-7 http://dx.doi.org/10.1016/0378-1119(94)00812-7 DOI 10.1016/0888-7543(90)90475-A http://dx.doi.org/10.1016/0888-7543(90)90475-A DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/ac9004309 http://dx.doi.org/10.1021/ac9004309 DOI 10.1021/pr060363j http://dx.doi.org/10.1021/pr060363j DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/358764a0 http://dx.doi.org/10.1038/358764a0 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.1117231108 http://dx.doi.org/10.1073/pnas.1117231108 DOI 10.1073/pnas.84.12.4039 http://dx.doi.org/10.1073/pnas.84.12.4039 DOI 10.1073/pnas.84.22.7901 http://dx.doi.org/10.1073/pnas.84.22.7901 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/scisignal.2000007 http://dx.doi.org/10.1126/scisignal.2000007 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DOI 10.1186/gb-2004-5-2-r8 http://dx.doi.org/10.1186/gb-2004-5-2-r8 DOI 10.3109/09687689409160435 http://dx.doi.org/10.3109/09687689409160435 DrugBank DB00390 http://www.drugbank.ca/drugs/DB00390 DrugBank DB00511 http://www.drugbank.ca/drugs/DB00511 DrugBank DB00774 http://www.drugbank.ca/drugs/DB00774 DrugBank DB00903 http://www.drugbank.ca/drugs/DB00903 DrugBank DB01021 http://www.drugbank.ca/drugs/DB01021 DrugBank DB01078 http://www.drugbank.ca/drugs/DB01078 DrugBank DB01092 http://www.drugbank.ca/drugs/DB01092 DrugBank DB01119 http://www.drugbank.ca/drugs/DB01119 DrugBank DB01158 http://www.drugbank.ca/drugs/DB01158 DrugBank DB01188 http://www.drugbank.ca/drugs/DB01188 DrugBank DB01244 http://www.drugbank.ca/drugs/DB01244 DrugBank DB01345 http://www.drugbank.ca/drugs/DB01345 DrugBank DB01370 http://www.drugbank.ca/drugs/DB01370 DrugBank DB01396 http://www.drugbank.ca/drugs/DB01396 DrugBank DB01430 http://www.drugbank.ca/drugs/DB01430 EC_number EC:3.6.3.9 http://www.genome.jp/dbget-bin/www_bget?EC:3.6.3.9 EMBL AK295095 http://www.ebi.ac.uk/ena/data/view/AK295095 EMBL AK296362 http://www.ebi.ac.uk/ena/data/view/AK296362 EMBL AK314777 http://www.ebi.ac.uk/ena/data/view/AK314777 EMBL AL136376 http://www.ebi.ac.uk/ena/data/view/AL136376 EMBL BC001330 http://www.ebi.ac.uk/ena/data/view/BC001330 EMBL BC003077 http://www.ebi.ac.uk/ena/data/view/BC003077 EMBL BC050359 http://www.ebi.ac.uk/ena/data/view/BC050359 EMBL CH471122 http://www.ebi.ac.uk/ena/data/view/CH471122 EMBL D00099 http://www.ebi.ac.uk/ena/data/view/D00099 EMBL J03007 http://www.ebi.ac.uk/ena/data/view/J03007 EMBL L76938 http://www.ebi.ac.uk/ena/data/view/L76938 EMBL M16793 http://www.ebi.ac.uk/ena/data/view/M16793 EMBL M16794 http://www.ebi.ac.uk/ena/data/view/M16794 EMBL M27572 http://www.ebi.ac.uk/ena/data/view/M27572 EMBL M27579 http://www.ebi.ac.uk/ena/data/view/M27579 EMBL M30309 http://www.ebi.ac.uk/ena/data/view/M30309 EMBL M30310 http://www.ebi.ac.uk/ena/data/view/M30310 EMBL U16798 http://www.ebi.ac.uk/ena/data/view/U16798 EMBL X03757 http://www.ebi.ac.uk/ena/data/view/X03757 EMBL X04297 http://www.ebi.ac.uk/ena/data/view/X04297 ENZYME 3.6.3.9 http://enzyme.expasy.org/EC/3.6.3.9 Ensembl ENST00000295598 http://www.ensembl.org/id/ENST00000295598 Ensembl ENST00000369496 http://www.ensembl.org/id/ENST00000369496 Ensembl ENST00000537345 http://www.ensembl.org/id/ENST00000537345 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GO_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GO_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005890 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005890 GO_component GO:0005901 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005901 GO_component GO:0014069 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014069 GO_component GO:0014704 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014704 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0016323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016323 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:0030315 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030315 GO_component GO:0042383 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042383 GO_component GO:0042470 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042470 GO_component GO:0043209 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043209 GO_component GO:0043231 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043231 GO_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_component GO:1903561 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903561 GO_function GO:0005391 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005391 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0016791 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016791 GO_function GO:0030955 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030955 GO_function GO:0031402 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031402 GO_function GO:0043531 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043531 GO_function GO:0051087 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051087 GO_function GO:1990239 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1990239 GO_process GO:0002026 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002026 GO_process GO:0002028 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002028 GO_process GO:0006883 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006883 GO_process GO:0008217 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008217 GO_process GO:0010107 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010107 GO_process GO:0015991 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015991 GO_process GO:0030007 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030007 GO_process GO:0031947 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031947 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0036376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0036376 GO_process GO:0042493 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042493 GO_process GO:0045822 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045822 GO_process GO:0045823 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045823 GO_process GO:0045989 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045989 GO_process GO:0055119 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055119 GO_process GO:0060048 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060048 GO_process GO:0060081 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060081 GO_process GO:0071260 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071260 GO_process GO:0071383 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071383 GO_process GO:0086004 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086004 GO_process GO:0086009 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086009 GO_process GO:0086013 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086013 GO_process GO:0086064 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086064 GO_process GO:1903416 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903416 GO_process GO:1903779 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903779 GO_process GO:1990573 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1990573 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0031410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0008289 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008289 GOslim_function GO:0016791 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016791 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.20.1110.10 http://www.cathdb.info/version/latest/superfamily/1.20.1110.10 Gene3D 2.70.150.10 http://www.cathdb.info/version/latest/superfamily/2.70.150.10 Gene3D 3.40.1110.10 http://www.cathdb.info/version/latest/superfamily/3.40.1110.10 GeneCards ATP1A1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ATP1A1 GeneID 476 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=476 GeneTree ENSGT00850000132256 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00850000132256 HGNC HGNC:799 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:799 HOGENOM HOG000265622 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000265622&db=HOGENOM6 HOVERGEN HBG004298 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG004298&db=HOVERGEN HPA CAB018702 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB018702 InParanoid P05023 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P05023 IntAct P05023 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P05023* IntEnz 3.6.3.9 http://www.ebi.ac.uk/intenz/query?cmd=Search&q=3.6.3.9 InterPro IPR001757 http://www.ebi.ac.uk/interpro/entry/IPR001757 InterPro IPR004014 http://www.ebi.ac.uk/interpro/entry/IPR004014 InterPro IPR005775 http://www.ebi.ac.uk/interpro/entry/IPR005775 InterPro IPR006068 http://www.ebi.ac.uk/interpro/entry/IPR006068 InterPro IPR008250 http://www.ebi.ac.uk/interpro/entry/IPR008250 InterPro IPR018303 http://www.ebi.ac.uk/interpro/entry/IPR018303 InterPro IPR023214 http://www.ebi.ac.uk/interpro/entry/IPR023214 InterPro IPR023298 http://www.ebi.ac.uk/interpro/entry/IPR023298 InterPro IPR023299 http://www.ebi.ac.uk/interpro/entry/IPR023299 Jabion 476 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=476 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Disease H01603 http://www.genome.jp/dbget-bin/www_bget?H01603 KEGG_Gene hsa:476 http://www.genome.jp/dbget-bin/www_bget?hsa:476 KEGG_Orthology KO:K01539 http://www.genome.jp/dbget-bin/www_bget?KO:K01539 KEGG_Pathway ko04260 http://www.genome.jp/kegg-bin/show_pathway?ko04260 KEGG_Pathway ko04960 http://www.genome.jp/kegg-bin/show_pathway?ko04960 KEGG_Pathway ko04961 http://www.genome.jp/kegg-bin/show_pathway?ko04961 KEGG_Pathway ko04964 http://www.genome.jp/kegg-bin/show_pathway?ko04964 KEGG_Pathway ko04970 http://www.genome.jp/kegg-bin/show_pathway?ko04970 KEGG_Pathway ko04971 http://www.genome.jp/kegg-bin/show_pathway?ko04971 KEGG_Pathway ko04972 http://www.genome.jp/kegg-bin/show_pathway?ko04972 KEGG_Pathway ko04973 http://www.genome.jp/kegg-bin/show_pathway?ko04973 KEGG_Pathway ko04974 http://www.genome.jp/kegg-bin/show_pathway?ko04974 KEGG_Pathway ko04976 http://www.genome.jp/kegg-bin/show_pathway?ko04976 KEGG_Pathway ko04978 http://www.genome.jp/kegg-bin/show_pathway?ko04978 MIM 182310 http://www.ncbi.nlm.nih.gov/omim/182310 MINT MINT-4998863 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-4998863 OMA PVENLCF http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=PVENLCF Orphanet 85142 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=85142 OrthoDB EOG091G01BB http://cegg.unige.ch/orthodb/results?searchtext=EOG091G01BB PROSITE PS00154 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00154 PSORT swissprot:AT1A1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:AT1A1_HUMAN PSORT-B swissprot:AT1A1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:AT1A1_HUMAN PSORT2 swissprot:AT1A1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:AT1A1_HUMAN Pfam PF00122 http://pfam.xfam.org/family/PF00122 Pfam PF00689 http://pfam.xfam.org/family/PF00689 Pfam PF00690 http://pfam.xfam.org/family/PF00690 PharmGKB PA62 http://www.pharmgkb.org/do/serve?objId=PA62&objCls=Gene Phobius swissprot:AT1A1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:AT1A1_HUMAN PhylomeDB P05023 http://phylomedb.org/?seqid=P05023 ProteinModelPortal P05023 http://www.proteinmodelportal.org/query/uniprot/P05023 PubMed 1380674 http://www.ncbi.nlm.nih.gov/pubmed/1380674 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 14759258 http://www.ncbi.nlm.nih.gov/pubmed/14759258 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 17081065 http://www.ncbi.nlm.nih.gov/pubmed/17081065 PubMed 19413330 http://www.ncbi.nlm.nih.gov/pubmed/19413330 PubMed 19690332 http://www.ncbi.nlm.nih.gov/pubmed/19690332 PubMed 1970326 http://www.ncbi.nlm.nih.gov/pubmed/1970326 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 22084111 http://www.ncbi.nlm.nih.gov/pubmed/22084111 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 2430951 http://www.ncbi.nlm.nih.gov/pubmed/2430951 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 2891135 http://www.ncbi.nlm.nih.gov/pubmed/2891135 PubMed 3035563 http://www.ncbi.nlm.nih.gov/pubmed/3035563 PubMed 3036582 http://www.ncbi.nlm.nih.gov/pubmed/3036582 PubMed 7536695 http://www.ncbi.nlm.nih.gov/pubmed/7536695 PubMed 7711835 http://www.ncbi.nlm.nih.gov/pubmed/7711835 Reactome R-HSA-5578775 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5578775 Reactome R-HSA-936837 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-936837 RefSeq NP_000692 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000692 RefSeq NP_001153705 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001153705 RefSeq NP_001153706 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001153706 RefSeq XP_016856849 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016856849 RefSeq XP_016856850 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016856850 SMART SM00831 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00831 SMR P05023 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P05023 STRING 9606.ENSP00000295598 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000295598&targetmode=cogs SUPFAM SSF56784 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF56784 SUPFAM SSF81660 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81660 TCDB 3.A.3.1 http://www.tcdb.org/search/result.php?tc=3.A.3.1 TIGRFAMs TIGR01106 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01106 TIGRFAMs TIGR01494 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01494 UCSC uc001ege http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001ege&org=rat UniGene Hs.371889 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.371889 UniProtKB AT1A1_HUMAN http://www.uniprot.org/uniprot/AT1A1_HUMAN UniProtKB-AC P05023 http://www.uniprot.org/uniprot/P05023 charge swissprot:AT1A1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:AT1A1_HUMAN eggNOG COG0474 http://eggnogapi.embl.de/nog_data/html/tree/COG0474 eggNOG KOG0203 http://eggnogapi.embl.de/nog_data/html/tree/KOG0203 epestfind swissprot:AT1A1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:AT1A1_HUMAN garnier swissprot:AT1A1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:AT1A1_HUMAN helixturnhelix swissprot:AT1A1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:AT1A1_HUMAN hmoment swissprot:AT1A1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:AT1A1_HUMAN iep swissprot:AT1A1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:AT1A1_HUMAN inforesidue swissprot:AT1A1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:AT1A1_HUMAN neXtProt NX_P05023 http://www.nextprot.org/db/entry/NX_P05023 octanol swissprot:AT1A1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:AT1A1_HUMAN pepcoil swissprot:AT1A1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:AT1A1_HUMAN pepdigest swissprot:AT1A1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:AT1A1_HUMAN pepinfo swissprot:AT1A1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:AT1A1_HUMAN pepnet swissprot:AT1A1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:AT1A1_HUMAN pepstats swissprot:AT1A1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:AT1A1_HUMAN pepwheel swissprot:AT1A1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:AT1A1_HUMAN pepwindow swissprot:AT1A1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:AT1A1_HUMAN sigcleave swissprot:AT1A1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:AT1A1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS NAC3_HUMAN Event=Alternative splicing; Named isoforms=7; Name=3; Synonyms=NCX3.3; IsoId=P57103-1; Sequence=Displayed; Name=2; Synonyms=NCX3.2; IsoId=P57103-2; Sequence=VSP_008116; Name=4; Synonyms=NCX3.4; IsoId=P57103-3; Sequence=VSP_008117, VSP_008118; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available.; Name=5; Synonyms=NCX3-tN.1; IsoId=P57103-4; Sequence=VSP_043125; Note=Expressed in fetal brain.; Name=6; Synonyms=NCX3-tN.2; IsoId=P57103-5; Sequence=VSP_043126, VSP_008116; Note=Expressed in fetal brain.; Name=7; IsoId=P57103-6; Sequence=VSP_043850; Name=8; IsoId=P57103-7; Sequence=VSP_044502; # AltName NAC3_HUMAN Na(+)/Ca(2+)-exchange protein 3 # AltName NAC3_HUMAN Solute carrier family 8 member 3 # BioGrid 112437 8 # CCDS CCDS35498 -. [P57103-1] # CCDS CCDS41967 -. [P57103-4] # CCDS CCDS45131 -. [P57103-5] # CCDS CCDS53904 -. [P57103-6] # CCDS CCDS9799 -. [P57103-7] # CCDS CCDS9800 -. [P57103-2] # ChiTaRS SLC8A3 human # DEVELOPMENTAL STAGE Up-regulated during in vitro differentiation of oligodendrocytes (at protein level). Up-regulated during in vitro differentiation of oligodendrocytes. {ECO:0000269|PubMed 21959935}. # DOMAIN NAC3_HUMAN The cytoplasmic Calx-beta domains bind the regulatory Ca(2+). The first Calx-beta domain can bind up to four Ca(2+) ions. The second domain can bind another two Ca(2+) ions that are essential for calcium-regulated ion exchange. {ECO 0000250|UniProtKB P23685}. # ENZYME REGULATION Calcium transport is down-regulated by Na(+) and stimulated by Ca(2+). {ECO:0000250|UniProtKB P70549}. # Ensembl ENST00000216568 ENSP00000216568; ENSG00000100678. [P57103-5] # Ensembl ENST00000356921 ENSP00000349392; ENSG00000100678. [P57103-2] # Ensembl ENST00000357887 ENSP00000350560; ENSG00000100678. [P57103-7] # Ensembl ENST00000381269 ENSP00000370669; ENSG00000100678. [P57103-1] # Ensembl ENST00000394330 ENSP00000377863; ENSG00000100678. [P57103-4] # Ensembl ENST00000494208 ENSP00000436332; ENSG00000100678. [P57103-3] # Ensembl ENST00000528359 ENSP00000433531; ENSG00000100678. [P57103-7] # Ensembl ENST00000534137 ENSP00000436688; ENSG00000100678. [P57103-6] # ExpressionAtlas P57103 baseline and differential # FUNCTION NAC3_HUMAN Mediates the electrogenic exchange of Ca(2+) against Na(+) ions across the cell membrane, and thereby contributes to the regulation of cytoplasmic Ca(2+) levels and Ca(2+)-dependent cellular processes. Contributes to cellular Ca(2+) homeostasis in excitable cells, both in muscle and in brain. In a first phase, voltage-gated channels mediate the rapid increase of cytoplasmic Ca(2+) levels due to release of Ca(2+) stores from the endoplasmic reticulum. SLC8A3 mediates the export of Ca(2+) from the cell during the next phase, so that cytoplasmic Ca(2+) levels rapidly return to baseline. Contributes to Ca(2+) transport during excitation-contraction coupling in muscle. In neurons, contributes to the rapid decrease of cytoplasmic Ca(2+) levels back to baseline after neuronal activation, and thereby contributes to modulate synaptic plasticity, learning and memory (By similarity). Required for normal oligodendrocyte differentiation and for normal myelination (PubMed 21959935). Mediates Ca(2+) efflux from mitochondria and contributes to mitochondrial Ca(2+) ion homeostasis (By similarity). {ECO 0000250|UniProtKB S4R2P9, ECO 0000269|PubMed 21959935}. # GO_component GO:0005741 mitochondrial outer membrane; ISS:UniProtKB. # GO_component GO:0005789 endoplasmic reticulum membrane; ISS:UniProtKB. # GO_component GO:0005874 microtubule; IEA:Ensembl. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; ISS:UniProtKB. # GO_component GO:0016528 sarcoplasm; IEA:UniProtKB-SubCell. # GO_component GO:0030054 cell junction; IEA:UniProtKB-SubCell. # GO_component GO:0031226 intrinsic component of plasma membrane; IDA:UniProtKB. # GO_component GO:0031594 neuromuscular junction; ISS:UniProtKB. # GO_component GO:0042383 sarcolemma; ISS:UniProtKB. # GO_component GO:0043197 dendritic spine; IEA:UniProtKB-SubCell. # GO_component GO:0043204 perikaryon; IEA:UniProtKB-SubCell. # GO_component GO:0048471 perinuclear region of cytoplasm; IDA:UniProtKB. # GO_function GO:0046872 metal ion binding; IEA:UniProtKB-KW. # GO_function NAC3_HUMAN GO 0005432 calcium sodium antiporter activity; ISS UniProtKB. # GO_process GO:0002244 hematopoietic progenitor cell differentiation; IEA:Ensembl. # GO_process GO:0006811 ion transport; TAS:Reactome. # GO_process GO:0006851 mitochondrial calcium ion transport; ISS:UniProtKB. # GO_process GO:0006874 cellular calcium ion homeostasis; ISS:UniProtKB. # GO_process GO:0007154 cell communication; IEA:InterPro. # GO_process GO:0007612 learning; ISS:UniProtKB. # GO_process GO:0007613 memory; ISS:UniProtKB. # GO_process GO:0014819 regulation of skeletal muscle contraction; ISS:UniProtKB. # GO_process GO:0021537 telencephalon development; IEA:Ensembl. # GO_process GO:0035725 sodium ion transmembrane transport; ISS:UniProtKB. # GO_process GO:0042552 myelination; ISS:UniProtKB. # GO_process GO:0048709 oligodendrocyte differentiation; ISS:UniProtKB. # GO_process GO:0051560 mitochondrial calcium ion homeostasis; ISS:UniProtKB. # GO_process GO:0060291 long-term synaptic potentiation; ISS:UniProtKB. # GO_process GO:0060402 calcium ion transport into cytosol; IEA:Ensembl. # GO_process GO:0070588 calcium ion transmembrane transport; ISS:UniProtKB. # GO_process GO:0071320 cellular response to cAMP; IEA:Ensembl. # GO_process GO:0071456 cellular response to hypoxia; ISS:UniProtKB. # GO_process GO:1903779 regulation of cardiac conduction; TAS:Reactome. # GO_process GO:1990034 calcium ion export from cell; IEA:Ensembl. # GO_process GO:1990035 calcium ion import into cell; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0008150 biological_process # GOslim_process GO:0030154 cell differentiation # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0050877 neurological system process # GOslim_process GO:0055085 transmembrane transport # Genevisible P57103 HS # HGNC HGNC:11070 SLC8A3 # InterPro IPR003644 Calx_beta # InterPro IPR004836 Na_Ca_Ex # InterPro IPR004837 NaCa_Exmemb # InterPro IPR032452 Na_Ca_Ex_C-exten # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00536 Heparan sulfate/heparin binding proteins # KEGG_Brite ko02001 Solute carrier family # KEGG_Pathway ko04020 Calcium signaling pathway # KEGG_Pathway ko04974 Protein digestion and absorption # MIM 607991 gene # Organism NAC3_HUMAN Homo sapiens (Human) # PRINTS PR01259 NACAEXCHNGR # Pfam PF01699 Na_Ca_ex; 2 # Pfam PF03160 Calx-beta; 2 # Pfam PF16494 Na_Ca_ex_C # Proteomes UP000005640 Chromosome 14 # Reactome R-HSA-418359 Reduction of cytosolic Ca++ levels # Reactome R-HSA-425561 Sodium/Calcium exchangers # Reactome R-HSA-5578775 Ion homeostasis # RecName NAC3_HUMAN Sodium/calcium exchanger 3 # RefSeq NP_001123889 NM_001130417.2. [P57103-5] # RefSeq NP_150287 NM_033262.4. [P57103-7] # RefSeq NP_489479 NM_058240.3. [P57103-6] # RefSeq NP_891977 NM_182932.2. [P57103-2] # RefSeq NP_891981 NM_182936.2. [P57103-4] # RefSeq NP_892114 NM_183002.2. [P57103-1] # RefSeq XP_016877095 XM_017021606.1. [P57103-1] # RefSeq XP_016877097 XM_017021608.1. [P57103-2] # SIMILARITY Belongs to the Ca(2+):cation antiporter (CaCA) (TC 2.A.19) family. SLC8 subfamily. {ECO 0000305}. # SIMILARITY Contains 2 Calx-beta domains. {ECO 0000305}. # SMART SM00237 Calx_beta; 2 # SUBCELLULAR LOCATION NAC3_HUMAN Cell membrane {ECO 0000269|PubMed 21959935}; Multi-pass membrane protein {ECO 0000305}. Perikaryon {ECO 0000250|UniProtKB P70549}. Cell projection, dendrite {ECO 0000250|UniProtKB P70549}. Cell projection, dendritic spine {ECO 0000250|UniProtKB P70549}. Cell membrane, sarcolemma {ECO 0000250|UniProtKB S4R2P9}. Cytoplasm, sarcoplasm {ECO 0000250|UniProtKB S4R2P9}. Cell junction {ECO 0000250|UniProtKB S4R2P9}. Mitochondrion outer membrane {ECO 0000250|UniProtKB S4R2P9}; Multi-pass membrane protein {ECO 0000250|UniProtKB S4R2P9}. Cytoplasm, perinuclear region {ECO 0000269|PubMed 21959935}. Endoplasmic reticulum membrane {ECO 0000305|PubMed 21959935}; Multi-pass membrane protein {ECO 0000250|UniProtKB S4R2P9}. Note=Detected at neuromuscular junctions. {ECO 0000250|UniProtKB S4R2P9}. # SUBUNIT Interacts with AKAP1. {ECO:0000250|UniProtKB S4R2P9}. # TCDB 2.A.19.3:the ca(2+) cation antiporter (caca) family # TIGRFAMs TIGR00845 caca # TISSUE SPECIFICITY Isoform 2 is expressed in brain and skeletal muscle. Isoform 3 is expressed in excitable cells of brain, retina and skeletal muscle. Isoform 4 is expressed in skeletal muscle. {ECO:0000269|PubMed 15777725}. # TopDownProteomics P57103-2 -. [P57103-2] # UCSC uc001xlu human. [P57103-1] # eggNOG ENOG410XPJP LUCA # eggNOG KOG1306 Eukaryota BLAST swissprot:NAC3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:NAC3_HUMAN BioCyc ZFISH:ENSG00000100678-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000100678-MONOMER COXPRESdb 6547 http://coxpresdb.jp/data/gene/6547.shtml CleanEx HS_SLC8A3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC8A3 DOI 10.1016/S0378-1119(02)00982-4 http://dx.doi.org/10.1016/S0378-1119(02)00982-4 DOI 10.1016/j.gene.2005.01.003 http://dx.doi.org/10.1016/j.gene.2005.01.003 DOI 10.1016/j.mam.2012.07.003 http://dx.doi.org/10.1016/j.mam.2012.07.003 DOI 10.1038/cdd.2011.125 http://dx.doi.org/10.1038/cdd.2011.125 DOI 10.1038/nature01348 http://dx.doi.org/10.1038/nature01348 DOI 10.1046/j.1471-4159.2003.01511.x http://dx.doi.org/10.1046/j.1471-4159.2003.01511.x DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1133427 http://dx.doi.org/10.1126/science.1133427 EMBL AF508982 http://www.ebi.ac.uk/ena/data/view/AF508982 EMBL AF510501 http://www.ebi.ac.uk/ena/data/view/AF510501 EMBL AF510502 http://www.ebi.ac.uk/ena/data/view/AF510502 EMBL AF510503 http://www.ebi.ac.uk/ena/data/view/AF510503 EMBL AJ304852 http://www.ebi.ac.uk/ena/data/view/AJ304852 EMBL AJ304853 http://www.ebi.ac.uk/ena/data/view/AJ304853 EMBL AJ745101 http://www.ebi.ac.uk/ena/data/view/AJ745101 EMBL AJ745102 http://www.ebi.ac.uk/ena/data/view/AJ745102 EMBL AL135747 http://www.ebi.ac.uk/ena/data/view/AL135747 EMBL AL160191 http://www.ebi.ac.uk/ena/data/view/AL160191 EMBL BC142969 http://www.ebi.ac.uk/ena/data/view/BC142969 EMBL CH471061 http://www.ebi.ac.uk/ena/data/view/CH471061 EMBL CH471061 http://www.ebi.ac.uk/ena/data/view/CH471061 EMBL CH471061 http://www.ebi.ac.uk/ena/data/view/CH471061 EMBL X93017 http://www.ebi.ac.uk/ena/data/view/X93017 Ensembl ENST00000216568 http://www.ensembl.org/id/ENST00000216568 Ensembl ENST00000356921 http://www.ensembl.org/id/ENST00000356921 Ensembl ENST00000357887 http://www.ensembl.org/id/ENST00000357887 Ensembl ENST00000381269 http://www.ensembl.org/id/ENST00000381269 Ensembl ENST00000394330 http://www.ensembl.org/id/ENST00000394330 Ensembl ENST00000494208 http://www.ensembl.org/id/ENST00000494208 Ensembl ENST00000528359 http://www.ensembl.org/id/ENST00000528359 Ensembl ENST00000534137 http://www.ensembl.org/id/ENST00000534137 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005741 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005741 GO_component GO:0005789 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005789 GO_component GO:0005874 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005874 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016528 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016528 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0031226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031226 GO_component GO:0031594 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031594 GO_component GO:0042383 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042383 GO_component GO:0043197 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043197 GO_component GO:0043204 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043204 GO_component GO:0048471 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048471 GO_function GO:0005432 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005432 GO_function GO:0046872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046872 GO_process GO:0002244 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002244 GO_process GO:0006811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006811 GO_process GO:0006851 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006851 GO_process GO:0006874 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006874 GO_process GO:0007154 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007154 GO_process GO:0007612 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007612 GO_process GO:0007613 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007613 GO_process GO:0014819 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014819 GO_process GO:0021537 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021537 GO_process GO:0035725 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035725 GO_process GO:0042552 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042552 GO_process GO:0048709 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048709 GO_process GO:0051560 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051560 GO_process GO:0060291 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060291 GO_process GO:0060402 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060402 GO_process GO:0070588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070588 GO_process GO:0071320 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071320 GO_process GO:0071456 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071456 GO_process GO:1903779 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903779 GO_process GO:1990034 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1990034 GO_process GO:1990035 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1990035 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0030154 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030154 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC8A3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC8A3 GeneID 6547 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6547 GeneTree ENSGT00730000110414 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00730000110414 HGNC HGNC:11070 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11070 HOGENOM HOG000266971 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000266971&db=HOGENOM6 HOVERGEN HBG006441 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG006441&db=HOVERGEN HPA HPA001669 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA001669 InParanoid P57103 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P57103 InterPro IPR003644 http://www.ebi.ac.uk/interpro/entry/IPR003644 InterPro IPR004836 http://www.ebi.ac.uk/interpro/entry/IPR004836 InterPro IPR004837 http://www.ebi.ac.uk/interpro/entry/IPR004837 InterPro IPR032452 http://www.ebi.ac.uk/interpro/entry/IPR032452 Jabion 6547 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6547 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00536 http://www.genome.jp/dbget-bin/www_bget?ko00536 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:6547 http://www.genome.jp/dbget-bin/www_bget?hsa:6547 KEGG_Orthology KO:K05849 http://www.genome.jp/dbget-bin/www_bget?KO:K05849 KEGG_Pathway ko04020 http://www.genome.jp/kegg-bin/show_pathway?ko04020 KEGG_Pathway ko04974 http://www.genome.jp/kegg-bin/show_pathway?ko04974 MIM 607991 http://www.ncbi.nlm.nih.gov/omim/607991 OMA VHTDEPE http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=VHTDEPE OrthoDB EOG091G0EC1 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0EC1 PRINTS PR01259 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01259 PSORT swissprot:NAC3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:NAC3_HUMAN PSORT-B swissprot:NAC3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:NAC3_HUMAN PSORT2 swissprot:NAC3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:NAC3_HUMAN Pfam PF01699 http://pfam.xfam.org/family/PF01699 Pfam PF03160 http://pfam.xfam.org/family/PF03160 Pfam PF16494 http://pfam.xfam.org/family/PF16494 PharmGKB PA315 http://www.pharmgkb.org/do/serve?objId=PA315&objCls=Gene Phobius swissprot:NAC3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:NAC3_HUMAN PhylomeDB P57103 http://phylomedb.org/?seqid=P57103 ProteinModelPortal P57103 http://www.proteinmodelportal.org/query/uniprot/P57103 PubMed 12406570 http://www.ncbi.nlm.nih.gov/pubmed/12406570 PubMed 12508121 http://www.ncbi.nlm.nih.gov/pubmed/12508121 PubMed 12558991 http://www.ncbi.nlm.nih.gov/pubmed/12558991 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15777725 http://www.ncbi.nlm.nih.gov/pubmed/15777725 PubMed 16959974 http://www.ncbi.nlm.nih.gov/pubmed/16959974 PubMed 21959935 http://www.ncbi.nlm.nih.gov/pubmed/21959935 PubMed 23506867 http://www.ncbi.nlm.nih.gov/pubmed/23506867 Reactome R-HSA-418359 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-418359 Reactome R-HSA-425561 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-425561 Reactome R-HSA-5578775 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5578775 RefSeq NP_001123889 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001123889 RefSeq NP_150287 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_150287 RefSeq NP_489479 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_489479 RefSeq NP_891977 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_891977 RefSeq NP_891981 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_891981 RefSeq NP_892114 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_892114 RefSeq XP_016877095 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016877095 RefSeq XP_016877097 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016877097 SMART SM00237 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00237 SMR P57103 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P57103 STRING 9606.ENSP00000370669 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000370669&targetmode=cogs TCDB 2.A.19.3 http://www.tcdb.org/search/result.php?tc=2.A.19.3 TIGRFAMs TIGR00845 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00845 UCSC uc001xlu http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001xlu&org=rat UniGene Hs.337696 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.337696 UniProtKB NAC3_HUMAN http://www.uniprot.org/uniprot/NAC3_HUMAN UniProtKB-AC P57103 http://www.uniprot.org/uniprot/P57103 charge swissprot:NAC3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:NAC3_HUMAN eggNOG ENOG410XPJP http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XPJP eggNOG KOG1306 http://eggnogapi.embl.de/nog_data/html/tree/KOG1306 epestfind swissprot:NAC3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:NAC3_HUMAN garnier swissprot:NAC3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:NAC3_HUMAN helixturnhelix swissprot:NAC3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:NAC3_HUMAN hmoment swissprot:NAC3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:NAC3_HUMAN iep swissprot:NAC3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:NAC3_HUMAN inforesidue swissprot:NAC3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:NAC3_HUMAN neXtProt NX_P57103 http://www.nextprot.org/db/entry/NX_P57103 octanol swissprot:NAC3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:NAC3_HUMAN pepcoil swissprot:NAC3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:NAC3_HUMAN pepdigest swissprot:NAC3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:NAC3_HUMAN pepinfo swissprot:NAC3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:NAC3_HUMAN pepnet swissprot:NAC3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:NAC3_HUMAN pepstats swissprot:NAC3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:NAC3_HUMAN pepwheel swissprot:NAC3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:NAC3_HUMAN pepwindow swissprot:NAC3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:NAC3_HUMAN sigcleave swissprot:NAC3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:NAC3_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS ATPK_HUMAN Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=P56134-1; Sequence=Displayed; Name=2; IsoId=P56134-2; Sequence=VSP_000437; Note=No experimental confirmation available.; Name=3; IsoId=P56134-3; Sequence=VSP_046746; Note=No experimental confirmation available. Gene prediction based on EST data.; Name=4; IsoId=P56134-4; Sequence=VSP_000437, VSP_046746; Note=No experimental confirmation available. Gene prediction based on EST data.; # BioGrid 114923 39 # CCDS CCDS34692 -. [P56134-3] # CCDS CCDS47653 -. [P56134-4] # CCDS CCDS47654 -. [P56134-2] # CCDS CCDS5665 -. [P56134-1] # Ensembl ENST00000292475 ENSP00000292475; ENSG00000241468. [P56134-1] # Ensembl ENST00000359832 ENSP00000352890; ENSG00000241468. [P56134-3] # Ensembl ENST00000394186 ENSP00000377740; ENSG00000241468. [P56134-2] # Ensembl ENST00000414062 ENSP00000412149; ENSG00000241468. [P56134-4] # Ensembl ENST00000488775 ENSP00000418197; ENSG00000241468. [P56134-4] # ExpressionAtlas P56134 baseline and differential # FUNCTION ATPK_HUMAN Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(0) domain. Minor subunit located with subunit a in the membrane. # GO_component GO:0000276 mitochondrial proton-transporting ATP synthase complex, coupling factor F(o); IEA:Ensembl. # GO_component GO:0005634 nucleus; IDA:UniProtKB. # GO_component GO:0005743 mitochondrial inner membrane; TAS:Reactome. # GO_component GO:0005753 mitochondrial proton-transporting ATP synthase complex; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0022857 transmembrane transporter activity; IC:UniProtKB. # GO_process GO:0006754 ATP biosynthetic process; TAS:Reactome. # GO_process GO:0015992 proton transport; NAS:UniProtKB. # GO_process GO:0042776 mitochondrial ATP synthesis coupled proton transport; IC:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005634 nucleus # GOslim_component GO:0043226 organelle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0044281 small molecule metabolic process # GOslim_process GO:0055085 transmembrane transport # Genevisible P56134 HS # HGNC HGNC:848 ATP5J2 # IntAct P56134 22 # InterPro IPR019344 F1F0-ATPsyn_F_prd # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Brite ko01000 Enzymes # KEGG_Pathway ko00190 Oxidative phosphorylation # Organism ATPK_HUMAN Homo sapiens (Human) # PANTHER PTHR13080 PTHR13080 # Pfam PF10206 WRW # Proteomes UP000005640 Chromosome 7 # Reactome R-HSA-163210 Formation of ATP by chemiosmotic coupling # RecName ATPK_HUMAN ATP synthase subunit f, mitochondrial # RefSeq NP_001003713 NM_001003713.2. [P56134-2] # RefSeq NP_001003714 NM_001003714.2. [P56134-3] # RefSeq NP_001034267 NM_001039178.2. [P56134-4] # RefSeq NP_004880 NM_004889.3. [P56134-1] # SIMILARITY Belongs to the ATPase F chain family. {ECO 0000305}. # SUBCELLULAR LOCATION ATPK_HUMAN Mitochondrion. Mitochondrion inner membrane {ECO 0000305}; Single-pass membrane protein {ECO 0000305}. # SUBUNIT F-type ATPases have 2 components, CF(1) - the catalytic core - and CF(0) - the membrane proton channel. CF(0) seems to have nine subunits: a, b, c, d, e, f, g, F6 and 8 (or A6L). Component of an ATP synthase complex composed of ATP5F1, ATP5G1, ATP5E, ATP5H, ATP5I, ATP5J, ATP5J2, MT-ATP6, MT-ATP8, ATP5A1, ATP5B, ATP5D, ATP5C1, ATP5O, ATP5L, USMG5 and MP68 (By similarity). {ECO 0000250}. # TopDownProteomics P56134-1 -. [P56134-1] # TopDownProteomics P56134-2 -. [P56134-2] # UCSC uc003uql human. [P56134-1] # eggNOG ENOG4111PBN LUCA # eggNOG KOG4092 Eukaryota BLAST swissprot:ATPK_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ATPK_HUMAN BioCyc ZFISH:HS08550-MONOMER http://biocyc.org/getid?id=ZFISH:HS08550-MONOMER COXPRESdb 9551 http://coxpresdb.jp/data/gene/9551.shtml CleanEx HS_ATP5J2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ATP5J2 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1021/ac9004309 http://dx.doi.org/10.1021/ac9004309 DOI 10.1038/nature01782 http://dx.doi.org/10.1038/nature01782 DOI 10.1073/pnas.95.14.8175 http://dx.doi.org/10.1073/pnas.95.14.8175 DOI 10.1074/mcp.M111.015131 http://dx.doi.org/10.1074/mcp.M111.015131 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1083423 http://dx.doi.org/10.1126/science.1083423 EMBL AC073063 http://www.ebi.ac.uk/ena/data/view/AC073063 EMBL AF047436 http://www.ebi.ac.uk/ena/data/view/AF047436 EMBL AF088918 http://www.ebi.ac.uk/ena/data/view/AF088918 EMBL AY046911 http://www.ebi.ac.uk/ena/data/view/AY046911 EMBL BC003678 http://www.ebi.ac.uk/ena/data/view/BC003678 EMBL CH236956 http://www.ebi.ac.uk/ena/data/view/CH236956 EMBL CH471091 http://www.ebi.ac.uk/ena/data/view/CH471091 EMBL CR456891 http://www.ebi.ac.uk/ena/data/view/CR456891 EMBL CR542155 http://www.ebi.ac.uk/ena/data/view/CR542155 Ensembl ENST00000292475 http://www.ensembl.org/id/ENST00000292475 Ensembl ENST00000359832 http://www.ensembl.org/id/ENST00000359832 Ensembl ENST00000394186 http://www.ensembl.org/id/ENST00000394186 Ensembl ENST00000414062 http://www.ensembl.org/id/ENST00000414062 Ensembl ENST00000488775 http://www.ensembl.org/id/ENST00000488775 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000276 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000276 GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0005753 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005753 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GO_process GO:0006754 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006754 GO_process GO:0015992 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015992 GO_process GO:0042776 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042776 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards ATP5J2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ATP5J2 GeneID 9551 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=9551 GeneTree ENSGT00510000046986 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00510000046986 HGNC HGNC:848 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:848 HOGENOM HOG000293164 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000293164&db=HOGENOM6 HOVERGEN HBG002418 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG002418&db=HOVERGEN HPA HPA067267 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA067267 InParanoid P56134 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P56134 IntAct P56134 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P56134* InterPro IPR019344 http://www.ebi.ac.uk/interpro/entry/IPR019344 Jabion 9551 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=9551 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00002 http://www.genome.jp/dbget-bin/www_bget?ko00002 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Gene hsa:9551 http://www.genome.jp/dbget-bin/www_bget?hsa:9551 KEGG_Orthology KO:K02130 http://www.genome.jp/dbget-bin/www_bget?KO:K02130 KEGG_Pathway ko00190 http://www.genome.jp/kegg-bin/show_pathway?ko00190 MINT MINT-1370314 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1370314 PANTHER PTHR13080 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR13080 PSORT swissprot:ATPK_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ATPK_HUMAN PSORT-B swissprot:ATPK_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ATPK_HUMAN PSORT2 swissprot:ATPK_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ATPK_HUMAN Pfam PF10206 http://pfam.xfam.org/family/PF10206 PharmGKB PA25138 http://www.pharmgkb.org/do/serve?objId=PA25138&objCls=Gene Phobius swissprot:ATPK_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ATPK_HUMAN PhylomeDB P56134 http://phylomedb.org/?seqid=P56134 ProteinModelPortal P56134 http://www.proteinmodelportal.org/query/uniprot/P56134 PubMed 12690205 http://www.ncbi.nlm.nih.gov/pubmed/12690205 PubMed 12853948 http://www.ncbi.nlm.nih.gov/pubmed/12853948 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 19413330 http://www.ncbi.nlm.nih.gov/pubmed/19413330 PubMed 22223895 http://www.ncbi.nlm.nih.gov/pubmed/22223895 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 9653160 http://www.ncbi.nlm.nih.gov/pubmed/9653160 Reactome R-HSA-163210 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-163210 RefSeq NP_001003713 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001003713 RefSeq NP_001003714 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001003714 RefSeq NP_001034267 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001034267 RefSeq NP_004880 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004880 STRING 9606.ENSP00000292475 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000292475&targetmode=cogs UCSC uc003uql http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003uql&org=rat UniGene Hs.521056 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.521056 UniGene Hs.656515 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.656515 UniProtKB ATPK_HUMAN http://www.uniprot.org/uniprot/ATPK_HUMAN UniProtKB-AC P56134 http://www.uniprot.org/uniprot/P56134 charge swissprot:ATPK_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ATPK_HUMAN eggNOG ENOG4111PBN http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111PBN eggNOG KOG4092 http://eggnogapi.embl.de/nog_data/html/tree/KOG4092 epestfind swissprot:ATPK_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ATPK_HUMAN garnier swissprot:ATPK_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ATPK_HUMAN helixturnhelix swissprot:ATPK_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ATPK_HUMAN hmoment swissprot:ATPK_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ATPK_HUMAN iep swissprot:ATPK_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ATPK_HUMAN inforesidue swissprot:ATPK_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ATPK_HUMAN neXtProt NX_P56134 http://www.nextprot.org/db/entry/NX_P56134 octanol swissprot:ATPK_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ATPK_HUMAN pepcoil swissprot:ATPK_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ATPK_HUMAN pepdigest swissprot:ATPK_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ATPK_HUMAN pepinfo swissprot:ATPK_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ATPK_HUMAN pepnet swissprot:ATPK_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ATPK_HUMAN pepstats swissprot:ATPK_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ATPK_HUMAN pepwheel swissprot:ATPK_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ATPK_HUMAN pepwindow swissprot:ATPK_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ATPK_HUMAN sigcleave swissprot:ATPK_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ATPK_HUMAN ## Database ID URL or Descriptions # AltName ATP4A_HUMAN Gastric H(+)/K(+) ATPase subunit alpha # AltName ATP4A_HUMAN Proton pump # BRENDA 3.6.3.10 2681 # BioGrid 106985 89 # CATALYTIC ACTIVITY ATP4A_HUMAN ATP + H(2)O + H(+)(In) + K(+)(Out) = ADP + phosphate + H(+)(Out) + K(+)(In). # DrugBank DB00213 Pantoprazole # DrugBank DB00338 Omeprazole # DrugBank DB00448 Lansoprazole # DrugBank DB00736 Esomeprazole # DrugBank DB01129 Rabeprazole # Ensembl ENST00000262623 ENSP00000262623; ENSG00000105675 # ExpressionAtlas P20648 baseline and differential # FUNCTION ATP4A_HUMAN Catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma membrane. Responsible for acid production in the stomach. # GO_component GO:0005615 extracellular space; IDA:UniProtKB. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0043231 intracellular membrane-bounded organelle; IBA:GO_Central. # GO_function ATP4A_HUMAN GO 0005391 sodium potassium-exchanging ATPase activity; IBA GO_Central. # GO_function ATP4A_HUMAN GO 0008900 hydrogen potassium-exchanging ATPase activity; TAS ProtInc. # GO_function GO:0000287 magnesium ion binding; IEA:InterPro. # GO_function GO:0005524 ATP binding; IEA:UniProtKB-KW. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0006883 cellular sodium ion homeostasis; IBA:GO_Central. # GO_process GO:0010107 potassium ion import; IBA:GO_Central. # GO_process GO:0015991 ATP hydrolysis coupled proton transport; IBA:GO_Central. # GO_process GO:0030007 cellular potassium ion homeostasis; IBA:GO_Central. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0036376 sodium ion export from cell; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005615 extracellular space # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.20.1110.10 -; 2. # Gene3D 2.70.150.10 -; 2. # Gene3D 3.40.1110.10 -; 1. # Genevisible P20648 HS # HGNC HGNC:819 ATP4A # InterPro IPR001757 P_typ_ATPase # InterPro IPR004014 ATPase_P-typ_cation-transptr_N # InterPro IPR005775 P-type_ATPase_IIC # InterPro IPR006068 ATPase_P-typ_cation-transptr_C # InterPro IPR008250 ATPase_P-typ_transduc_dom_A # InterPro IPR015127 ATPase_P-typ_H/K-transp_N # InterPro IPR018303 ATPase_P-typ_P_site # InterPro IPR023214 HAD-like_dom # InterPro IPR023298 ATPase_P-typ_TM_dom # InterPro IPR023299 ATPase_P-typ_cyto_domN # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko01000 Enzymes # KEGG_Pathway ko00190 Oxidative phosphorylation # KEGG_Pathway ko04966 Collecting duct acid secretion # KEGG_Pathway ko04971 Gastric acid secretion # MIM 137216 gene # Organism ATP4A_HUMAN Homo sapiens (Human) # PIR A36558 A35292 # PIR C27397 C27397 # PROSITE PS00154 ATPASE_E1_E2 # Pfam PF00122 E1-E2_ATPase # Pfam PF00689 Cation_ATPase_C # Pfam PF00690 Cation_ATPase_N # Pfam PF09040 H-K_ATPase_N # Proteomes UP000005640 Chromosome 19 # Reactome R-HSA-936837 Ion transport by P-type ATPases # RecName ATP4A_HUMAN Potassium-transporting ATPase alpha chain 1 # RefSeq NP_000695 NM_000704.2 # SIMILARITY Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIC subfamily. {ECO 0000305}. # SMART SM00831 Cation_ATPase_N # SUBCELLULAR LOCATION ATP4A_HUMAN Cell membrane; Multi-pass membrane protein. # SUBUNIT Composed of two subunits alpha (catalytic) and beta. # SUPFAM SSF56784 SSF56784; 3 # SUPFAM SSF81660 SSF81660 # TCDB 3.A.3.1 the p-type atpase (p-atpase) superfamily # TIGRFAMs TIGR01106 ATPase-IIC_X-K # TIGRFAMs TIGR01494 ATPase_P-type; 2 # TISSUE SPECIFICITY ATP4A_HUMAN Found in gastric mucosa. # UCSC uc002oal human # eggNOG COG0474 LUCA # eggNOG KOG0203 Eukaryota BLAST swissprot:ATP4A_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ATP4A_HUMAN BioCyc MetaCyc:HS02790-MONOMER http://biocyc.org/getid?id=MetaCyc:HS02790-MONOMER BioCyc ZFISH:HS02790-MONOMER http://biocyc.org/getid?id=ZFISH:HS02790-MONOMER COXPRESdb 495 http://coxpresdb.jp/data/gene/495.shtml CleanEx HS_ATP4A http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ATP4A DOI 10.1016/0014-5793(87)80677-4 http://dx.doi.org/10.1016/0014-5793(87)80677-4 DOI 10.1038/nature02399 http://dx.doi.org/10.1038/nature02399 DOI 10.1089/dna.1990.9.749 http://dx.doi.org/10.1089/dna.1990.9.749 DrugBank DB00213 http://www.drugbank.ca/drugs/DB00213 DrugBank DB00338 http://www.drugbank.ca/drugs/DB00338 DrugBank DB00448 http://www.drugbank.ca/drugs/DB00448 DrugBank DB00736 http://www.drugbank.ca/drugs/DB00736 DrugBank DB01129 http://www.drugbank.ca/drugs/DB01129 EC_number EC:3.6.3.10 http://www.genome.jp/dbget-bin/www_bget?EC:3.6.3.10 EMBL AC002389 http://www.ebi.ac.uk/ena/data/view/AC002389 EMBL AD000090 http://www.ebi.ac.uk/ena/data/view/AD000090 EMBL J05451 http://www.ebi.ac.uk/ena/data/view/J05451 EMBL M27575 http://www.ebi.ac.uk/ena/data/view/M27575 EMBL M63962 http://www.ebi.ac.uk/ena/data/view/M63962 ENZYME 3.6.3.10 http://enzyme.expasy.org/EC/3.6.3.10 Ensembl ENST00000262623 http://www.ensembl.org/id/ENST00000262623 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005615 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005615 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0043231 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043231 GO_function GO:0000287 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000287 GO_function GO:0005391 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005391 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0008900 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008900 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0006883 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006883 GO_process GO:0010107 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010107 GO_process GO:0015991 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015991 GO_process GO:0030007 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030007 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0036376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0036376 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005615 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005615 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.20.1110.10 http://www.cathdb.info/version/latest/superfamily/1.20.1110.10 Gene3D 2.70.150.10 http://www.cathdb.info/version/latest/superfamily/2.70.150.10 Gene3D 3.40.1110.10 http://www.cathdb.info/version/latest/superfamily/3.40.1110.10 GeneCards ATP4A http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ATP4A GeneID 495 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=495 GeneTree ENSGT00850000132256 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00850000132256 HGNC HGNC:819 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:819 HOGENOM HOG000265622 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000265622&db=HOGENOM6 HOVERGEN HBG004298 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG004298&db=HOVERGEN HPA HPA039154 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA039154 InParanoid P20648 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P20648 IntEnz 3.6.3.10 http://www.ebi.ac.uk/intenz/query?cmd=Search&q=3.6.3.10 InterPro IPR001757 http://www.ebi.ac.uk/interpro/entry/IPR001757 InterPro IPR004014 http://www.ebi.ac.uk/interpro/entry/IPR004014 InterPro IPR005775 http://www.ebi.ac.uk/interpro/entry/IPR005775 InterPro IPR006068 http://www.ebi.ac.uk/interpro/entry/IPR006068 InterPro IPR008250 http://www.ebi.ac.uk/interpro/entry/IPR008250 InterPro IPR015127 http://www.ebi.ac.uk/interpro/entry/IPR015127 InterPro IPR018303 http://www.ebi.ac.uk/interpro/entry/IPR018303 InterPro IPR023214 http://www.ebi.ac.uk/interpro/entry/IPR023214 InterPro IPR023298 http://www.ebi.ac.uk/interpro/entry/IPR023298 InterPro IPR023299 http://www.ebi.ac.uk/interpro/entry/IPR023299 Jabion 495 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=495 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Gene hsa:495 http://www.genome.jp/dbget-bin/www_bget?hsa:495 KEGG_Orthology KO:K01542 http://www.genome.jp/dbget-bin/www_bget?KO:K01542 KEGG_Pathway ko00190 http://www.genome.jp/kegg-bin/show_pathway?ko00190 KEGG_Pathway ko04966 http://www.genome.jp/kegg-bin/show_pathway?ko04966 KEGG_Pathway ko04971 http://www.genome.jp/kegg-bin/show_pathway?ko04971 MIM 137216 http://www.ncbi.nlm.nih.gov/omim/137216 OMA EDMNFPS http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=EDMNFPS OrthoDB EOG091G01BB http://cegg.unige.ch/orthodb/results?searchtext=EOG091G01BB PROSITE PS00154 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00154 PSORT swissprot:ATP4A_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ATP4A_HUMAN PSORT-B swissprot:ATP4A_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ATP4A_HUMAN PSORT2 swissprot:ATP4A_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ATP4A_HUMAN Pfam PF00122 http://pfam.xfam.org/family/PF00122 Pfam PF00689 http://pfam.xfam.org/family/PF00689 Pfam PF00690 http://pfam.xfam.org/family/PF00690 Pfam PF09040 http://pfam.xfam.org/family/PF09040 PharmGKB PA25113 http://www.pharmgkb.org/do/serve?objId=PA25113&objCls=Gene Phobius swissprot:ATP4A_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ATP4A_HUMAN PhylomeDB P20648 http://phylomedb.org/?seqid=P20648 ProteinModelPortal P20648 http://www.proteinmodelportal.org/query/uniprot/P20648 PubMed 15057824 http://www.ncbi.nlm.nih.gov/pubmed/15057824 PubMed 2160952 http://www.ncbi.nlm.nih.gov/pubmed/2160952 PubMed 2176086 http://www.ncbi.nlm.nih.gov/pubmed/2176086 PubMed 3036582 http://www.ncbi.nlm.nih.gov/pubmed/3036582 Reactome R-HSA-936837 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-936837 RefSeq NP_000695 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000695 SMART SM00831 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00831 SMR P20648 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P20648 STRING 9606.ENSP00000262623 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000262623&targetmode=cogs SUPFAM SSF56784 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF56784 SUPFAM SSF81660 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81660 TCDB 3.A.3.1 http://www.tcdb.org/search/result.php?tc=3.A.3.1 TIGRFAMs TIGR01106 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01106 TIGRFAMs TIGR01494 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01494 UCSC uc002oal http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002oal&org=rat UniGene Hs.36992 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.36992 UniProtKB ATP4A_HUMAN http://www.uniprot.org/uniprot/ATP4A_HUMAN UniProtKB-AC P20648 http://www.uniprot.org/uniprot/P20648 charge swissprot:ATP4A_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ATP4A_HUMAN eggNOG COG0474 http://eggnogapi.embl.de/nog_data/html/tree/COG0474 eggNOG KOG0203 http://eggnogapi.embl.de/nog_data/html/tree/KOG0203 epestfind swissprot:ATP4A_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ATP4A_HUMAN garnier swissprot:ATP4A_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ATP4A_HUMAN helixturnhelix swissprot:ATP4A_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ATP4A_HUMAN hmoment swissprot:ATP4A_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ATP4A_HUMAN iep swissprot:ATP4A_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ATP4A_HUMAN inforesidue swissprot:ATP4A_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ATP4A_HUMAN neXtProt NX_P20648 http://www.nextprot.org/db/entry/NX_P20648 octanol swissprot:ATP4A_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ATP4A_HUMAN pepcoil swissprot:ATP4A_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ATP4A_HUMAN pepdigest swissprot:ATP4A_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ATP4A_HUMAN pepinfo swissprot:ATP4A_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ATP4A_HUMAN pepnet swissprot:ATP4A_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ATP4A_HUMAN pepstats swissprot:ATP4A_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ATP4A_HUMAN pepwheel swissprot:ATP4A_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ATP4A_HUMAN pepwindow swissprot:ATP4A_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ATP4A_HUMAN sigcleave swissprot:ATP4A_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ATP4A_HUMAN ## Database ID URL or Descriptions # AltName ABCD1_HUMAN Adrenoleukodystrophy protein # BRENDA 3.6.3.47 2681 # BioGrid 106717 31 # DISEASE ABCD1_HUMAN Adrenoleukodystrophy (ALD) [MIM 300100] A peroxisomal metabolic disorder characterized by progressive multifocal demyelination of the central nervous system and by peripheral adrenal insufficiency (Addison disease). It results in mental deterioration, corticospinal tract dysfunction, and cortical blindness. Different clinical manifestations exist like cerebral childhood ALD (CALD), adult cerebral ALD (ACALD), adrenomyeloneuropathy (AMN) and 'Addison disease only' (ADO) phenotype. {ECO 0000269|PubMed 10369742, ECO 0000269|PubMed 10480364, ECO 0000269|PubMed 10737980, ECO 0000269|PubMed 10980539, ECO 0000269|PubMed 11438993, ECO 0000269|PubMed 11810273, ECO 0000269|PubMed 15643618, ECO 0000269|PubMed 21700483, ECO 0000269|PubMed 21889498, ECO 0000269|PubMed 23651979, ECO 0000269|PubMed 26686776, ECO 0000269|PubMed 7581394, ECO 0000269|PubMed 7717396, ECO 0000269|PubMed 7825602, ECO 0000269|PubMed 7849723, ECO 0000269|PubMed 7904210, ECO 0000269|PubMed 8040304, ECO 0000269|PubMed 8566952, ECO 0000269|PubMed 8651290, ECO 0000269|PubMed 9452087}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE ABCD1_HUMAN Note=The promoter region of ABCD1 is deleted in the chromosome Xq28 deletion syndrome which involves ABCD1 and the neighboring gene BCAP31. {ECO 0000269|PubMed 11992258}. # Ensembl ENST00000218104 ENSP00000218104; ENSG00000101986 # ExpressionAtlas P33897 baseline and differential # FUNCTION ABCD1_HUMAN Probable transporter. The nucleotide-binding fold acts as an ATP-binding subunit with ATPase activity. {ECO 0000269|PubMed 11248239}. # GO_component GO:0005737 cytoplasm; IDA:UniProtKB. # GO_component GO:0005739 mitochondrion; IEA:Ensembl. # GO_component GO:0005777 peroxisome; IDA:UniProtKB. # GO_component GO:0005778 peroxisomal membrane; IDA:UniProtKB. # GO_component GO:0005779 integral component of peroxisomal membrane; IDA:UniProtKB. # GO_component GO:0005829 cytosol; TAS:Reactome. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0048471 perinuclear region of cytoplasm; IDA:UniProtKB. # GO_function GO:0005215 transporter activity; NAS:UniProtKB. # GO_function GO:0005324 long-chain fatty acid transporter activity; EXP:Reactome. # GO_function GO:0005325 peroxisomal fatty-acyl-CoA transporter activity; IGI:UniProtKB. # GO_function GO:0005524 ATP binding; IDA:UniProtKB. # GO_function GO:0016887 ATPase activity; IDA:UniProtKB. # GO_function GO:0019899 enzyme binding; IPI:UniProtKB. # GO_function GO:0042626 ATPase activity, coupled to transmembrane movement of substances; NAS:UniProtKB. # GO_function GO:0042803 protein homodimerization activity; IDA:UniProtKB. # GO_process GO:0006635 fatty acid beta-oxidation; IDA:UniProtKB. # GO_process GO:0007031 peroxisome organization; IDA:UniProtKB. # GO_process GO:0015910 peroxisomal long-chain fatty acid import; IGI:UniProtKB. # GO_process GO:0015919 peroxisomal membrane transport; NAS:UniProtKB. # GO_process GO:0033540 fatty acid beta-oxidation using acyl-CoA oxidase; TAS:Reactome. # GO_process GO:0036109 alpha-linolenic acid metabolic process; TAS:Reactome. # GO_process GO:0042758 long-chain fatty acid catabolic process; IGI:UniProtKB. # GO_process GO:0042760 very long-chain fatty acid catabolic process; IDA:UniProtKB. # GO_process GO:0043651 linoleic acid metabolic process; TAS:Reactome. # GO_process GO:0055085 transmembrane transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005739 mitochondrion # GOslim_component GO:0005777 peroxisome # GOslim_component GO:0005829 cytosol # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0019899 enzyme binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006629 lipid metabolic process # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0009056 catabolic process # GOslim_process GO:0044281 small molecule metabolic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 3.40.50.300 -; 1. # Genevisible P33897 HS # HGNC HGNC:61 ABCD1 # INTERACTION ABCD1_HUMAN Self; NbExp=2; IntAct=EBI-81045, EBI-81045; P48410 Abcd1 (xeno); NbExp=2; IntAct=EBI-81045, EBI-81118; P28288 ABCD3; NbExp=2; IntAct=EBI-81045, EBI-80992; P40855 PEX19; NbExp=3; IntAct=EBI-81045, EBI-594747; # IntAct P33897 16 # InterPro IPR003439 ABC_transporter-like # InterPro IPR003593 AAA+_ATPase # InterPro IPR005283 FA_transporter # InterPro IPR011527 ABC1_TM_dom # InterPro IPR017871 ABC_transporter_CS # InterPro IPR027417 P-loop_NTPase # InterPro IPR031237 ALDP # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02000 Transporters # KEGG_Disease H00176 [Inherited metabolic disease; Neurodegenerative disease; Peroxisomal disease] adrenomyeloneuropathy (AMN) # KEGG_Pathway ko02010 ABC transporters # KEGG_Pathway ko04146 Peroxisome # MIM 300100 phenotype # MIM 300371 gene # Organism ABCD1_HUMAN Homo sapiens (Human) # Orphanet 139396 X-linked cerebral adrenoleukodystrophy # Orphanet 139399 Adrenomyeloneuropathy # Orphanet 369942 CADDS # PANTHER PTHR11384:SF21 PTHR11384:SF21 # PIR G02500 G02500 # PROSITE PS00211 ABC_TRANSPORTER_1 # PROSITE PS50893 ABC_TRANSPORTER_2 # PROSITE PS50929 ABC_TM1F # Pfam PF00005 ABC_tran # Pfam PF06472 ABC_membrane_2 # Proteomes UP000005640 Chromosome X # Reactome R-HSA-1369062 ABC transporters in lipid homeostasis # Reactome R-HSA-2046105 Linoleic acid (LA) metabolism # Reactome R-HSA-2046106 alpha-linolenic acid (ALA) metabolism # Reactome R-HSA-390247 Beta-oxidation of very long chain fatty acids # RecName ABCD1_HUMAN ATP-binding cassette sub-family D member 1 # RefSeq NP_000024 NM_000033.3 # SIMILARITY Belongs to the ABC transporter superfamily. ABCD family. Peroxisomal fatty acyl CoA transporter (TC 3.A.1.203) subfamily. {ECO 0000305}. # SIMILARITY Contains 1 ABC transmembrane type-1 domain. {ECO:0000255|PROSITE-ProRule PRU00441}. # SIMILARITY Contains 1 ABC transporter domain. {ECO:0000255|PROSITE-ProRule PRU00434}. # SMART SM00382 AAA # SUBCELLULAR LOCATION ABCD1_HUMAN Peroxisome membrane; Multi-pass membrane protein. # SUBUNIT ABCD1_HUMAN Can form homodimers and heterodimers with ABCD2/ALDR and ABCD3/PMP70. Dimerization is necessary to form an active transporter. Interacts with PEX19. {ECO 0000269|PubMed 10551832, ECO 0000269|PubMed 10704444, ECO 0000269|PubMed 10777694}. # SUPFAM SSF52540 SSF52540 # SUPFAM SSF90123 SSF90123 # TCDB 3.A.1.203 the atp-binding cassette (abc) superfamily # TIGRFAMs TIGR00954 3a01203 # UCSC uc004fif human # WEB RESOURCE ABCD1_HUMAN Name=ABCMdb; Note=Database for mutations in ABC proteins; URL="http //abcmutations.hegelab.org/proteinDetails?uniprot_id=P33897"; # WEB RESOURCE ABCD1_HUMAN Name=X-ALD gene mutation database; URL="http //www.x-ald.nl/"; # eggNOG COG4178 LUCA # eggNOG KOG0064 Eukaryota BLAST swissprot:ABCD1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ABCD1_HUMAN BioCyc ZFISH:ENSG00000101986-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000101986-MONOMER COXPRESdb 215 http://coxpresdb.jp/data/gene/215.shtml CleanEx HS_ABCD1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ABCD1 DOI 10.1002/(SICI)1098-1004(1997)9:6<500::AID-HUMU2>3.0.CO http://dx.doi.org/10.1002/(SICI)1098-1004(1997)9:6<500::AID-HUMU2>3.0.CO DOI 10.1002/(SICI)1098-1004(200004)15:4<348::AID-HUMU7>3.0.CO http://dx.doi.org/10.1002/(SICI)1098-1004(200004)15:4<348::AID-HUMU7>3.0.CO DOI 10.1002/1098-1004(200009)16:3<271::AID-HUMU15>3.0.CO http://dx.doi.org/10.1002/1098-1004(200009)16:3<271::AID-HUMU15>3.0.CO DOI 10.1002/humu.1149 http://dx.doi.org/10.1002/humu.1149 DOI 10.1002/humu.1227 http://dx.doi.org/10.1002/humu.1227 DOI 10.1002/humu.1380060203 http://dx.doi.org/10.1002/humu.1380060203 DOI 10.1002/humu.9303 http://dx.doi.org/10.1002/humu.9303 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1006/bbrc.2000.2572 http://dx.doi.org/10.1006/bbrc.2000.2572 DOI 10.1006/mcpr.1999.0232 http://dx.doi.org/10.1006/mcpr.1999.0232 DOI 10.1007/BF02265264 http://dx.doi.org/10.1007/BF02265264 DOI 10.1007/s00439-001-0632-z http://dx.doi.org/10.1007/s00439-001-0632-z DOI 10.1007/s004399900090 http://dx.doi.org/10.1007/s004399900090 DOI 10.1016/0300-9084(93)90089-B http://dx.doi.org/10.1016/0300-9084(93)90089-B DOI 10.1016/S0014-5793(01)02235-9 http://dx.doi.org/10.1016/S0014-5793(01)02235-9 DOI 10.1016/j.cca.2011.08.026 http://dx.doi.org/10.1016/j.cca.2011.08.026 DOI 10.1016/j.cca.2015.12.014 http://dx.doi.org/10.1016/j.cca.2015.12.014 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1016/j.molcel.2008.07.007 http://dx.doi.org/10.1016/j.molcel.2008.07.007 DOI 10.1016/j.ymgme.2011.05.016 http://dx.doi.org/10.1016/j.ymgme.2011.05.016 DOI 10.1038/361726a0 http://dx.doi.org/10.1038/361726a0 DOI 10.1038/nature03440 http://dx.doi.org/10.1038/nature03440 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1074/jbc.274.46.32738 http://dx.doi.org/10.1074/jbc.274.46.32738 DOI 10.1083/jcb.148.5.931 http://dx.doi.org/10.1083/jcb.148.5.931 DOI 10.1086/340849 http://dx.doi.org/10.1086/340849 DOI 10.1093/hmg/2.11.1949 http://dx.doi.org/10.1093/hmg/2.11.1949 DOI 10.1093/hmg/3.10.1903 http://dx.doi.org/10.1093/hmg/3.10.1903 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1159/000346680 http://dx.doi.org/10.1159/000346680 DOI 10.1172/JCI117363 http://dx.doi.org/10.1172/JCI117363 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL BC015541 http://www.ebi.ac.uk/ena/data/view/BC015541 EMBL BC025358 http://www.ebi.ac.uk/ena/data/view/BC025358 EMBL U52111 http://www.ebi.ac.uk/ena/data/view/U52111 EMBL Z21876 http://www.ebi.ac.uk/ena/data/view/Z21876 EMBL Z31006 http://www.ebi.ac.uk/ena/data/view/Z31006 EMBL Z31007 http://www.ebi.ac.uk/ena/data/view/Z31007 EMBL Z31008 http://www.ebi.ac.uk/ena/data/view/Z31008 EMBL Z31009 http://www.ebi.ac.uk/ena/data/view/Z31009 EMBL Z31010 http://www.ebi.ac.uk/ena/data/view/Z31010 EMBL Z31348 http://www.ebi.ac.uk/ena/data/view/Z31348 Ensembl ENST00000218104 http://www.ensembl.org/id/ENST00000218104 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005777 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005777 GO_component GO:0005778 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005778 GO_component GO:0005779 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005779 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0048471 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048471 GO_function GO:0005215 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005215 GO_function GO:0005324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005324 GO_function GO:0005325 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005325 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GO_function GO:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GO_function GO:0042626 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042626 GO_function GO:0042803 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042803 GO_process GO:0006635 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006635 GO_process GO:0007031 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007031 GO_process GO:0015910 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015910 GO_process GO:0015919 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015919 GO_process GO:0033540 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033540 GO_process GO:0036109 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0036109 GO_process GO:0042758 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042758 GO_process GO:0042760 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042760 GO_process GO:0043651 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043651 GO_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_component GO:0005777 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005777 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006629 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006629 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0009056 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009056 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 3.40.50.300 http://www.cathdb.info/version/latest/superfamily/3.40.50.300 GeneCards ABCD1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ABCD1 GeneID 215 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=215 GeneTree ENSGT00390000003950 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000003950 HGNC HGNC:61 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:61 HOGENOM HOG000206081 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000206081&db=HOGENOM6 HOVERGEN HBG050438 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050438&db=HOVERGEN InParanoid P33897 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P33897 IntAct P33897 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P33897* InterPro IPR003439 http://www.ebi.ac.uk/interpro/entry/IPR003439 InterPro IPR003593 http://www.ebi.ac.uk/interpro/entry/IPR003593 InterPro IPR005283 http://www.ebi.ac.uk/interpro/entry/IPR005283 InterPro IPR011527 http://www.ebi.ac.uk/interpro/entry/IPR011527 InterPro IPR017871 http://www.ebi.ac.uk/interpro/entry/IPR017871 InterPro IPR027417 http://www.ebi.ac.uk/interpro/entry/IPR027417 InterPro IPR031237 http://www.ebi.ac.uk/interpro/entry/IPR031237 Jabion 215 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=215 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Disease H00176 http://www.genome.jp/dbget-bin/www_bget?H00176 KEGG_Gene hsa:215 http://www.genome.jp/dbget-bin/www_bget?hsa:215 KEGG_Orthology KO:K05675 http://www.genome.jp/dbget-bin/www_bget?KO:K05675 KEGG_Pathway ko02010 http://www.genome.jp/kegg-bin/show_pathway?ko02010 KEGG_Pathway ko04146 http://www.genome.jp/kegg-bin/show_pathway?ko04146 MIM 300100 http://www.ncbi.nlm.nih.gov/omim/300100 MIM 300371 http://www.ncbi.nlm.nih.gov/omim/300371 OMA PRVLCRE http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=PRVLCRE Orphanet 139396 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=139396 Orphanet 139399 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=139399 Orphanet 369942 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=369942 OrthoDB EOG091G04M1 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G04M1 PANTHER PTHR11384:SF21 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11384:SF21 PROSITE PS00211 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00211 PROSITE PS50893 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50893 PROSITE PS50929 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50929 PSORT swissprot:ABCD1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ABCD1_HUMAN PSORT-B swissprot:ABCD1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ABCD1_HUMAN PSORT2 swissprot:ABCD1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ABCD1_HUMAN Pfam PF00005 http://pfam.xfam.org/family/PF00005 Pfam PF06472 http://pfam.xfam.org/family/PF06472 PharmGKB PA24396 http://www.pharmgkb.org/do/serve?objId=PA24396&objCls=Gene Phobius swissprot:ABCD1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ABCD1_HUMAN PhylomeDB P33897 http://phylomedb.org/?seqid=P33897 ProteinModelPortal P33897 http://www.proteinmodelportal.org/query/uniprot/P33897 PubMed 10369742 http://www.ncbi.nlm.nih.gov/pubmed/10369742 PubMed 10480364 http://www.ncbi.nlm.nih.gov/pubmed/10480364 PubMed 10551832 http://www.ncbi.nlm.nih.gov/pubmed/10551832 PubMed 10704444 http://www.ncbi.nlm.nih.gov/pubmed/10704444 PubMed 10737980 http://www.ncbi.nlm.nih.gov/pubmed/10737980 PubMed 10777694 http://www.ncbi.nlm.nih.gov/pubmed/10777694 PubMed 10980539 http://www.ncbi.nlm.nih.gov/pubmed/10980539 PubMed 11248239 http://www.ncbi.nlm.nih.gov/pubmed/11248239 PubMed 11438993 http://www.ncbi.nlm.nih.gov/pubmed/11438993 PubMed 11748843 http://www.ncbi.nlm.nih.gov/pubmed/11748843 PubMed 11810273 http://www.ncbi.nlm.nih.gov/pubmed/11810273 PubMed 11992258 http://www.ncbi.nlm.nih.gov/pubmed/11992258 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15643618 http://www.ncbi.nlm.nih.gov/pubmed/15643618 PubMed 15772651 http://www.ncbi.nlm.nih.gov/pubmed/15772651 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 18691976 http://www.ncbi.nlm.nih.gov/pubmed/18691976 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 21700483 http://www.ncbi.nlm.nih.gov/pubmed/21700483 PubMed 21889498 http://www.ncbi.nlm.nih.gov/pubmed/21889498 PubMed 23651979 http://www.ncbi.nlm.nih.gov/pubmed/23651979 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 26686776 http://www.ncbi.nlm.nih.gov/pubmed/26686776 PubMed 7581394 http://www.ncbi.nlm.nih.gov/pubmed/7581394 PubMed 7717396 http://www.ncbi.nlm.nih.gov/pubmed/7717396 PubMed 7825602 http://www.ncbi.nlm.nih.gov/pubmed/7825602 PubMed 7849723 http://www.ncbi.nlm.nih.gov/pubmed/7849723 PubMed 7904210 http://www.ncbi.nlm.nih.gov/pubmed/7904210 PubMed 8040304 http://www.ncbi.nlm.nih.gov/pubmed/8040304 PubMed 8441467 http://www.ncbi.nlm.nih.gov/pubmed/8441467 PubMed 8507690 http://www.ncbi.nlm.nih.gov/pubmed/8507690 PubMed 8566952 http://www.ncbi.nlm.nih.gov/pubmed/8566952 PubMed 8651290 http://www.ncbi.nlm.nih.gov/pubmed/8651290 PubMed 9195223 http://www.ncbi.nlm.nih.gov/pubmed/9195223 PubMed 9452087 http://www.ncbi.nlm.nih.gov/pubmed/9452087 Reactome R-HSA-1369062 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1369062 Reactome R-HSA-2046105 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2046105 Reactome R-HSA-2046106 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2046106 Reactome R-HSA-390247 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-390247 RefSeq NP_000024 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000024 SMART SM00382 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00382 STRING 9606.ENSP00000218104 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000218104&targetmode=cogs SUPFAM SSF52540 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52540 SUPFAM SSF90123 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF90123 TCDB 3.A.1.203 http://www.tcdb.org/search/result.php?tc=3.A.1.203 TIGRFAMs TIGR00954 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00954 UCSC uc004fif http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc004fif&org=rat UniGene Hs.159546 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.159546 UniProtKB ABCD1_HUMAN http://www.uniprot.org/uniprot/ABCD1_HUMAN UniProtKB-AC P33897 http://www.uniprot.org/uniprot/P33897 charge swissprot:ABCD1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ABCD1_HUMAN eggNOG COG4178 http://eggnogapi.embl.de/nog_data/html/tree/COG4178 eggNOG KOG0064 http://eggnogapi.embl.de/nog_data/html/tree/KOG0064 epestfind swissprot:ABCD1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ABCD1_HUMAN garnier swissprot:ABCD1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ABCD1_HUMAN helixturnhelix swissprot:ABCD1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ABCD1_HUMAN hmoment swissprot:ABCD1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ABCD1_HUMAN iep swissprot:ABCD1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ABCD1_HUMAN inforesidue swissprot:ABCD1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ABCD1_HUMAN neXtProt NX_P33897 http://www.nextprot.org/db/entry/NX_P33897 octanol swissprot:ABCD1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ABCD1_HUMAN pepcoil swissprot:ABCD1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ABCD1_HUMAN pepdigest swissprot:ABCD1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ABCD1_HUMAN pepinfo swissprot:ABCD1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ABCD1_HUMAN pepnet swissprot:ABCD1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ABCD1_HUMAN pepstats swissprot:ABCD1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ABCD1_HUMAN pepwheel swissprot:ABCD1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ABCD1_HUMAN pepwindow swissprot:ABCD1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ABCD1_HUMAN sigcleave swissprot:ABCD1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ABCD1_HUMAN ## Database ID URL or Descriptions # Ensembl ENST00000359963 ENSP00000353048; ENSG00000198445 # FUNCTION TCPQM_HUMAN Possible molecular chaperone; assists the folding of proteins upon ATP hydrolysis. {ECO 0000250}. # GO_component GO:0005737 cytoplasm; IEA:UniProtKB-SubCell. # GO_function GO:0005253 anion channel activity; TAS:ProtInc. # GO_function GO:0005524 ATP binding; IEA:UniProtKB-KW. # GO_function GO:0015269 calcium-activated potassium channel activity; TAS:ProtInc. # GO_process GO:0006810 transport; TAS:ProtInc. # GOslim_component GO:0005737 cytoplasm # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # Gene3D 1.10.560.10 -; 2. # Gene3D 3.30.260.10 -; 2. # Gene3D 3.50.7.10 -; 1. # Genevisible Q96SF2 HS # HGNC HGNC:15553 CCT8L2 # InterPro IPR002423 Cpn60/TCP-1 # InterPro IPR017998 Chaperone_TCP-1 # InterPro IPR027409 GroEL-like_apical_dom # InterPro IPR027410 TCP-1-like_intermed # InterPro IPR027413 GROEL-like_equatorial # MISCELLANEOUS Expression of CCT8L2 is confirmed by many ESTs mostly identified from the testis. {ECO:0000305|PubMed 20193073}. # MISCELLANEOUS Presence of two highly similar CCT8L genes (CCT8L1P and CCT8L2) in the genomes of human and chimp and of a single copy in other mammal genomes, including rhesus monkey, suggests that the duplication of this gene occurred in the ape lineage (Hominoidea) after its divergence from the old-world monkeys (Cercopithecidae). {ECO:0000303|PubMed 20193073}. # Organism TCPQM_HUMAN Homo sapiens (Human) # PRINTS PR00304 TCOMPLEXTCP1 # Pfam PF00118 Cpn60_TCP1 # Proteomes UP000005640 Chromosome 22 # RecName TCPQM_HUMAN T-complex protein 1 subunit theta-like 2 # RefSeq NP_055221 NM_014406.4 # SEQUENCE CAUTION Sequence=AAI39843.2; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the C-terminal part.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the TCP-1 chaperonin family. {ECO 0000305}. # SUBCELLULAR LOCATION TCPQM_HUMAN Cytoplasm {ECO 0000250}. # SUPFAM SSF52029 SSF52029 # UCSC uc002zlp human # eggNOG ENOG410XPXR LUCA # eggNOG KOG0362 Eukaryota BLAST swissprot:TCPQM_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:TCPQM_HUMAN BioCyc ZFISH:G66-33823-MONOMER http://biocyc.org/getid?id=ZFISH:G66-33823-MONOMER COXPRESdb 150160 http://coxpresdb.jp/data/gene/150160.shtml CleanEx HS_CCT8L2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CCT8L2 DOI 10.1006/geno.1999.5975 http://dx.doi.org/10.1006/geno.1999.5975 DOI 10.1038/990031 http://dx.doi.org/10.1038/990031 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1471-2148-10-64 http://dx.doi.org/10.1186/1471-2148-10-64 DOI 10.1186/gb-2004-5-10-r84 http://dx.doi.org/10.1186/gb-2004-5-10-r84 EMBL AP000365 http://www.ebi.ac.uk/ena/data/view/AP000365 EMBL AP000547 http://www.ebi.ac.uk/ena/data/view/AP000547 EMBL AP003553 http://www.ebi.ac.uk/ena/data/view/AP003553 EMBL BC033797 http://www.ebi.ac.uk/ena/data/view/BC033797 EMBL BC100811 http://www.ebi.ac.uk/ena/data/view/BC100811 EMBL BC100812 http://www.ebi.ac.uk/ena/data/view/BC100812 EMBL BC100813 http://www.ebi.ac.uk/ena/data/view/BC100813 EMBL BC139842 http://www.ebi.ac.uk/ena/data/view/BC139842 EMBL CH471193 http://www.ebi.ac.uk/ena/data/view/CH471193 EMBL CR456508 http://www.ebi.ac.uk/ena/data/view/CR456508 Ensembl ENST00000359963 http://www.ensembl.org/id/ENST00000359963 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_function GO:0005253 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005253 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0015269 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015269 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 Gene3D 1.10.560.10 http://www.cathdb.info/version/latest/superfamily/1.10.560.10 Gene3D 3.30.260.10 http://www.cathdb.info/version/latest/superfamily/3.30.260.10 Gene3D 3.50.7.10 http://www.cathdb.info/version/latest/superfamily/3.50.7.10 GeneCards CCT8L2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CCT8L2 GeneID 150160 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=150160 GeneTree ENSGT00550000074783 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074783 HGNC HGNC:15553 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:15553 HOGENOM HOG000131368 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000131368&db=HOGENOM6 HOVERGEN HBG098338 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG098338&db=HOVERGEN HPA HPA039268 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA039268 HPA HPA041336 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA041336 HPA HPA045440 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA045440 InParanoid Q96SF2 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q96SF2 IntAct Q96SF2 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q96SF2* InterPro IPR002423 http://www.ebi.ac.uk/interpro/entry/IPR002423 InterPro IPR017998 http://www.ebi.ac.uk/interpro/entry/IPR017998 InterPro IPR027409 http://www.ebi.ac.uk/interpro/entry/IPR027409 InterPro IPR027410 http://www.ebi.ac.uk/interpro/entry/IPR027410 InterPro IPR027413 http://www.ebi.ac.uk/interpro/entry/IPR027413 Jabion 150160 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=150160 KEGG_Gene hsa:150160 http://www.genome.jp/dbget-bin/www_bget?hsa:150160 OMA QLCQDPR http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=QLCQDPR OrthoDB EOG091G05LP http://cegg.unige.ch/orthodb/results?searchtext=EOG091G05LP PRINTS PR00304 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00304 PSORT swissprot:TCPQM_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:TCPQM_HUMAN PSORT-B swissprot:TCPQM_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:TCPQM_HUMAN PSORT2 swissprot:TCPQM_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:TCPQM_HUMAN Pfam PF00118 http://pfam.xfam.org/family/PF00118 PharmGKB PA162382100 http://www.pharmgkb.org/do/serve?objId=PA162382100&objCls=Gene Phobius swissprot:TCPQM_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:TCPQM_HUMAN PhylomeDB Q96SF2 http://phylomedb.org/?seqid=Q96SF2 ProteinModelPortal Q96SF2 http://www.proteinmodelportal.org/query/uniprot/Q96SF2 PubMed 10585773 http://www.ncbi.nlm.nih.gov/pubmed/10585773 PubMed 10591208 http://www.ncbi.nlm.nih.gov/pubmed/10591208 PubMed 15461802 http://www.ncbi.nlm.nih.gov/pubmed/15461802 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 20193073 http://www.ncbi.nlm.nih.gov/pubmed/20193073 RefSeq NP_055221 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_055221 STRING 9606.ENSP00000353048 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000353048&targetmode=cogs SUPFAM SSF52029 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52029 UCSC uc002zlp http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002zlp&org=rat UniGene Hs.128342 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.128342 UniProtKB TCPQM_HUMAN http://www.uniprot.org/uniprot/TCPQM_HUMAN UniProtKB-AC Q96SF2 http://www.uniprot.org/uniprot/Q96SF2 charge swissprot:TCPQM_HUMAN http://rest.g-language.org/emboss/charge/swissprot:TCPQM_HUMAN eggNOG ENOG410XPXR http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XPXR eggNOG KOG0362 http://eggnogapi.embl.de/nog_data/html/tree/KOG0362 epestfind swissprot:TCPQM_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:TCPQM_HUMAN garnier swissprot:TCPQM_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:TCPQM_HUMAN helixturnhelix swissprot:TCPQM_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:TCPQM_HUMAN hmoment swissprot:TCPQM_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:TCPQM_HUMAN iep swissprot:TCPQM_HUMAN http://rest.g-language.org/emboss/iep/swissprot:TCPQM_HUMAN inforesidue swissprot:TCPQM_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:TCPQM_HUMAN neXtProt NX_Q96SF2 http://www.nextprot.org/db/entry/NX_Q96SF2 octanol swissprot:TCPQM_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:TCPQM_HUMAN pepcoil swissprot:TCPQM_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:TCPQM_HUMAN pepdigest swissprot:TCPQM_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:TCPQM_HUMAN pepinfo swissprot:TCPQM_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:TCPQM_HUMAN pepnet swissprot:TCPQM_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:TCPQM_HUMAN pepstats swissprot:TCPQM_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:TCPQM_HUMAN pepwheel swissprot:TCPQM_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:TCPQM_HUMAN pepwindow swissprot:TCPQM_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:TCPQM_HUMAN sigcleave swissprot:TCPQM_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:TCPQM_HUMAN ## Database ID URL or Descriptions # AltName CSC1_HUMAN Transmembrane protein 63C # ENZYME REGULATION Activated by hyperosmotic shock after mannitol treatment. {ECO:0000269|PubMed 24503647}. # Ensembl ENST00000298351 ENSP00000298351; ENSG00000165548 # ExpressionAtlas Q9P1W3 baseline and differential # FUNCTION CSC1_HUMAN Acts as an osmosensitive calcium-permeable cation channel. {ECO 0000269|PubMed 24503647}. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0005227 calcium activated cation channel activity; IDA:UniProtKB. # GO_process GO:0006812 cation transport; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # Genevisible Q9P1W3 HS # HGNC HGNC:23787 TMEM63C # InterPro IPR003864 RSN1_7TM # InterPro IPR027815 PHM7_cyt # InterPro IPR032880 Csc1_N # Organism CSC1_HUMAN Homo sapiens (Human) # PIR T46920 T46920 # Pfam PF02714 RSN1_7TM # Pfam PF13967 RSN1_TM # Pfam PF14703 PHM7_cyt # Proteomes UP000005640 Chromosome 14 # RecName CSC1_HUMAN Calcium permeable stress-gated cation channel 1 # RefSeq NP_065164 NM_020431.3 # SEQUENCE CAUTION Sequence=AAF62556.1; Type=Erroneous gene model prediction; Evidence={ECO 0000305}; # SIMILARITY Belongs to the CSC1 (TC 1.A.17) family. {ECO 0000305}. # SUBCELLULAR LOCATION CSC1_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # TCDB 1.A.17.5.12 the calcium-dependent chloride channel (ca-clc) family # UCSC uc001xtf human # eggNOG COG5594 LUCA # eggNOG KOG1134 Eukaryota BLAST swissprot:CSC1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CSC1_HUMAN COXPRESdb 57156 http://coxpresdb.jp/data/gene/57156.shtml CleanEx HS_TMEM63C http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_TMEM63C DOI 10.1038/cr.2014.14 http://dx.doi.org/10.1038/cr.2014.14 DOI 10.1038/nature01348 http://dx.doi.org/10.1038/nature01348 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 EMBL AC007375 http://www.ebi.ac.uk/ena/data/view/AC007375 EMBL AC007954 http://www.ebi.ac.uk/ena/data/view/AC007954 EMBL AK125159 http://www.ebi.ac.uk/ena/data/view/AK125159 EMBL AL157492 http://www.ebi.ac.uk/ena/data/view/AL157492 EMBL BC136613 http://www.ebi.ac.uk/ena/data/view/BC136613 EMBL BC136614 http://www.ebi.ac.uk/ena/data/view/BC136614 EMBL BX248756 http://www.ebi.ac.uk/ena/data/view/BX248756 EMBL BX248759 http://www.ebi.ac.uk/ena/data/view/BX248759 EMBL CH471061 http://www.ebi.ac.uk/ena/data/view/CH471061 Ensembl ENST00000298351 http://www.ensembl.org/id/ENST00000298351 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005227 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005227 GO_process GO:0006812 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006812 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GeneCards TMEM63C http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=TMEM63C GeneID 57156 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=57156 GeneTree ENSGT00390000011855 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000011855 H-InvDB HIX0011843 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0011843 HGNC HGNC:23787 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:23787 HOGENOM HOG000006559 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000006559&db=HOGENOM6 HOVERGEN HBG056752 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG056752&db=HOVERGEN HPA HPA030657 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA030657 InParanoid Q9P1W3 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9P1W3 InterPro IPR003864 http://www.ebi.ac.uk/interpro/entry/IPR003864 InterPro IPR027815 http://www.ebi.ac.uk/interpro/entry/IPR027815 InterPro IPR032880 http://www.ebi.ac.uk/interpro/entry/IPR032880 Jabion 57156 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=57156 KEGG_Gene hsa:57156 http://www.genome.jp/dbget-bin/www_bget?hsa:57156 OMA SFFYFIT http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=SFFYFIT OrthoDB EOG091G02SZ http://cegg.unige.ch/orthodb/results?searchtext=EOG091G02SZ PSORT swissprot:CSC1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CSC1_HUMAN PSORT-B swissprot:CSC1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CSC1_HUMAN PSORT2 swissprot:CSC1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CSC1_HUMAN Pfam PF02714 http://pfam.xfam.org/family/PF02714 Pfam PF13967 http://pfam.xfam.org/family/PF13967 Pfam PF14703 http://pfam.xfam.org/family/PF14703 PharmGKB PA134993950 http://www.pharmgkb.org/do/serve?objId=PA134993950&objCls=Gene Phobius swissprot:CSC1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CSC1_HUMAN PhylomeDB Q9P1W3 http://phylomedb.org/?seqid=Q9P1W3 ProteinModelPortal Q9P1W3 http://www.proteinmodelportal.org/query/uniprot/Q9P1W3 PubMed 12508121 http://www.ncbi.nlm.nih.gov/pubmed/12508121 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 PubMed 24503647 http://www.ncbi.nlm.nih.gov/pubmed/24503647 RefSeq NP_065164 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_065164 STRING 9606.ENSP00000298351 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000298351&targetmode=cogs TCDB 1.A.17.5.12 http://www.tcdb.org/search/result.php?tc=1.A.17.5.12 UCSC uc001xtf http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001xtf&org=rat UniGene Hs.22452 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.22452 UniProtKB CSC1_HUMAN http://www.uniprot.org/uniprot/CSC1_HUMAN UniProtKB-AC Q9P1W3 http://www.uniprot.org/uniprot/Q9P1W3 charge swissprot:CSC1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CSC1_HUMAN eggNOG COG5594 http://eggnogapi.embl.de/nog_data/html/tree/COG5594 eggNOG KOG1134 http://eggnogapi.embl.de/nog_data/html/tree/KOG1134 epestfind swissprot:CSC1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CSC1_HUMAN garnier swissprot:CSC1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CSC1_HUMAN helixturnhelix swissprot:CSC1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CSC1_HUMAN hmoment swissprot:CSC1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CSC1_HUMAN iep swissprot:CSC1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CSC1_HUMAN inforesidue swissprot:CSC1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CSC1_HUMAN neXtProt NX_Q9P1W3 http://www.nextprot.org/db/entry/NX_Q9P1W3 octanol swissprot:CSC1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CSC1_HUMAN pepcoil swissprot:CSC1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CSC1_HUMAN pepdigest swissprot:CSC1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CSC1_HUMAN pepinfo swissprot:CSC1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CSC1_HUMAN pepnet swissprot:CSC1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CSC1_HUMAN pepstats swissprot:CSC1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CSC1_HUMAN pepwheel swissprot:CSC1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CSC1_HUMAN pepwindow swissprot:CSC1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CSC1_HUMAN sigcleave swissprot:CSC1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CSC1_HUMAN ## Database ID URL or Descriptions # AltName CCG4_HUMAN Neuronal voltage-gated calcium channel gamma-4 subunit # AltName CCG4_HUMAN Transmembrane AMPAR regulatory protein gamma-4 # BioGrid 117994 17 # Ensembl ENST00000262138 ENSP00000262138; ENSG00000075461 # ExpressionAtlas Q9UBN1 baseline and differential # FUNCTION CCG4_HUMAN Regulates the trafficking and gating properties of AMPA- selective glutamate receptors (AMPARs). Promotes their targeting to the cell membrane and synapses and modulates their gating properties by slowing their rates of activation, deactivation and desensitization and by mediating their resensitization. Does not show subunit-specific AMPA receptor regulation and regulates all AMPAR subunits. Thought to stabilize the calcium channel in an inactivated (closed) state. {ECO 0000269|PubMed 21172611}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0005891 voltage-gated calcium channel complex; IEA:InterPro. # GO_component GO:0030666 endocytic vesicle membrane; TAS:Reactome. # GO_component GO:0032281 AMPA glutamate receptor complex; ISS:UniProtKB. # GO_function GO:0005245 voltage-gated calcium channel activity; TAS:ProtInc. # GO_function GO:0005262 calcium channel activity; TAS:Reactome. # GO_function GO:0016247 channel regulator activity; IBA:GO_Central. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0019226 transmission of nerve impulse; IBA:GO_Central. # GO_process GO:0051899 membrane depolarization; TAS:Reactome. # GO_process GO:0061337 cardiac conduction; TAS:Reactome. # GO_process GO:2000311 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0050877 neurological system process # Genevisible Q9UBN1 HS # HGNC HGNC:1408 CACNG4 # InterPro IPR004031 PMP22/EMP/MP20/Claudin # InterPro IPR005423 VDCC_g4su # InterPro IPR008368 VDCC_gsu # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04010 MAPK signaling pathway # KEGG_Pathway ko04260 Cardiac muscle contraction # KEGG_Pathway ko05410 Hypertrophic cardiomyopathy (HCM) # KEGG_Pathway ko05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC) # KEGG_Pathway ko05414 Dilated cardiomyopathy # MIM 606404 gene # Organism CCG4_HUMAN Homo sapiens (Human) # PRINTS PR01603 VDCCGAMMA4 # PRINTS PR01792 VDCCGAMMA # Pfam PF00822 PMP22_Claudin # Proteomes UP000005640 Chromosome 17 # Reactome R-HSA-112308 Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels # Reactome R-HSA-399719 Trafficking of AMPA receptors # Reactome R-HSA-5576892 Phase 0 - rapid depolarisation # Reactome R-HSA-5576893 Phase 2 - plateau phase # Reactome R-HSA-5576894 Phase 1 - inactivation of fast Na+ channels # Reactome R-HSA-5682910 LGI-ADAM interactions # RecName CCG4_HUMAN Voltage-dependent calcium channel gamma-4 subunit # RefSeq NP_055220 NM_014405.3 # SIMILARITY Belongs to the PMP-22/EMP/MP20 family. CACNG subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION CCG4_HUMAN Cell membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. # SUBUNIT The L-type calcium channel is composed of five subunits: alpha-1, alpha-2/delta, beta and gamma. Acts as an auxiliary subunit for AMPA-selective glutamate receptors (AMPARs). Found in a complex with GRIA1, GRIA2, GRIA3, GRIA4, CNIH2, CNIH3, CACNG2, CACNG3, CACNG5, CACNG7 and CACNG8 (By similarity). {ECO 0000250}. # TCDB 8.A.16.2 the ca(+) channel auxiliary subunit Gama1-Gama8 (ccaGama) family # UCSC uc002jft human # eggNOG ENOG410IJYN Eukaryota # eggNOG ENOG4111W1R LUCA BLAST swissprot:CCG4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CCG4_HUMAN BioCyc ZFISH:ENSG00000075461-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000075461-MONOMER COXPRESdb 27092 http://coxpresdb.jp/data/gene/27092.shtml CleanEx HS_CACNG4 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CACNG4 DOI 10.1016/j.neuron.2010.11.026 http://dx.doi.org/10.1016/j.neuron.2010.11.026 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1101/gr.9.12.1204 http://dx.doi.org/10.1101/gr.9.12.1204 EMBL AF142622 http://www.ebi.ac.uk/ena/data/view/AF142622 EMBL AF142623 http://www.ebi.ac.uk/ena/data/view/AF142623 EMBL AF142624 http://www.ebi.ac.uk/ena/data/view/AF142624 EMBL AF142625 http://www.ebi.ac.uk/ena/data/view/AF142625 EMBL AF162692 http://www.ebi.ac.uk/ena/data/view/AF162692 EMBL AK315149 http://www.ebi.ac.uk/ena/data/view/AK315149 EMBL BC034532 http://www.ebi.ac.uk/ena/data/view/BC034532 EMBL CH471099 http://www.ebi.ac.uk/ena/data/view/CH471099 Ensembl ENST00000262138 http://www.ensembl.org/id/ENST00000262138 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0005891 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005891 GO_component GO:0030666 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030666 GO_component GO:0032281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032281 GO_function GO:0005245 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005245 GO_function GO:0005262 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005262 GO_function GO:0016247 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016247 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0019226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019226 GO_process GO:0051899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051899 GO_process GO:0061337 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061337 GO_process GO:2000311 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000311 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GeneCards CACNG4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CACNG4 GeneID 27092 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=27092 GeneTree ENSGT00550000074547 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074547 HGNC HGNC:1408 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:1408 HOGENOM HOG000233440 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000233440&db=HOGENOM6 HOVERGEN HBG003682 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG003682&db=HOVERGEN HPA HPA060718 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA060718 HPA HPA065370 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA065370 InParanoid Q9UBN1 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9UBN1 InterPro IPR004031 http://www.ebi.ac.uk/interpro/entry/IPR004031 InterPro IPR005423 http://www.ebi.ac.uk/interpro/entry/IPR005423 InterPro IPR008368 http://www.ebi.ac.uk/interpro/entry/IPR008368 Jabion 27092 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=27092 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:27092 http://www.genome.jp/dbget-bin/www_bget?hsa:27092 KEGG_Orthology KO:K04869 http://www.genome.jp/dbget-bin/www_bget?KO:K04869 KEGG_Pathway ko04010 http://www.genome.jp/kegg-bin/show_pathway?ko04010 KEGG_Pathway ko04260 http://www.genome.jp/kegg-bin/show_pathway?ko04260 KEGG_Pathway ko05410 http://www.genome.jp/kegg-bin/show_pathway?ko05410 KEGG_Pathway ko05412 http://www.genome.jp/kegg-bin/show_pathway?ko05412 KEGG_Pathway ko05414 http://www.genome.jp/kegg-bin/show_pathway?ko05414 MIM 606404 http://www.ncbi.nlm.nih.gov/omim/606404 OMA ICNGTNL http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=ICNGTNL OrthoDB EOG091G0D2Z http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0D2Z PRINTS PR01603 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01603 PRINTS PR01792 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01792 PSORT swissprot:CCG4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CCG4_HUMAN PSORT-B swissprot:CCG4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CCG4_HUMAN PSORT2 swissprot:CCG4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CCG4_HUMAN Pfam PF00822 http://pfam.xfam.org/family/PF00822 PharmGKB PA26018 http://www.pharmgkb.org/do/serve?objId=PA26018&objCls=Gene Phobius swissprot:CCG4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CCG4_HUMAN PhylomeDB Q9UBN1 http://phylomedb.org/?seqid=Q9UBN1 ProteinModelPortal Q9UBN1 http://www.proteinmodelportal.org/query/uniprot/Q9UBN1 PubMed 10613843 http://www.ncbi.nlm.nih.gov/pubmed/10613843 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 21172611 http://www.ncbi.nlm.nih.gov/pubmed/21172611 Reactome R-HSA-112308 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-112308 Reactome R-HSA-399719 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-399719 Reactome R-HSA-5576892 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576892 Reactome R-HSA-5576893 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576893 Reactome R-HSA-5576894 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576894 Reactome R-HSA-5682910 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5682910 RefSeq NP_055220 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_055220 STRING 9606.ENSP00000262138 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000262138&targetmode=cogs TCDB 8.A.16.2 http://www.tcdb.org/search/result.php?tc=8.A.16.2 UCSC uc002jft http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002jft&org=rat UniGene Hs.514423 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.514423 UniProtKB CCG4_HUMAN http://www.uniprot.org/uniprot/CCG4_HUMAN UniProtKB-AC Q9UBN1 http://www.uniprot.org/uniprot/Q9UBN1 charge swissprot:CCG4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CCG4_HUMAN eggNOG ENOG410IJYN http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IJYN eggNOG ENOG4111W1R http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111W1R epestfind swissprot:CCG4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CCG4_HUMAN garnier swissprot:CCG4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CCG4_HUMAN helixturnhelix swissprot:CCG4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CCG4_HUMAN hmoment swissprot:CCG4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CCG4_HUMAN iep swissprot:CCG4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CCG4_HUMAN inforesidue swissprot:CCG4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CCG4_HUMAN neXtProt NX_Q9UBN1 http://www.nextprot.org/db/entry/NX_Q9UBN1 octanol swissprot:CCG4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CCG4_HUMAN pepcoil swissprot:CCG4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CCG4_HUMAN pepdigest swissprot:CCG4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CCG4_HUMAN pepinfo swissprot:CCG4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CCG4_HUMAN pepnet swissprot:CCG4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CCG4_HUMAN pepstats swissprot:CCG4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CCG4_HUMAN pepwheel swissprot:CCG4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CCG4_HUMAN pepwindow swissprot:CCG4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CCG4_HUMAN sigcleave swissprot:CCG4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CCG4_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS VATH_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9UI12-1; Sequence=Displayed; Name=2; IsoId=Q9UI12-2; Sequence=VSP_012274; # AltName VATH_HUMAN Nef-binding protein 1 # AltName VATH_HUMAN Protein VMA13 homolog # AltName VATH_HUMAN V-ATPase 50/57 kDa subunits # AltName VATH_HUMAN Vacuolar proton pump subunit H # AltName VATH_HUMAN Vacuolar proton pump subunit SFD # BioGrid 119635 46 # CCDS CCDS6153 -. [Q9UI12-1] # CCDS CCDS6154 -. [Q9UI12-2] # ChiTaRS ATP6V1H human # Ensembl ENST00000355221 ENSP00000347359; ENSG00000047249. [Q9UI12-2] # Ensembl ENST00000359530 ENSP00000352522; ENSG00000047249. [Q9UI12-1] # Ensembl ENST00000396774 ENSP00000379995; ENSG00000047249. [Q9UI12-1] # ExpressionAtlas Q9UI12 baseline and differential # FUNCTION VATH_HUMAN Subunit of the peripheral V1 complex of vacuolar ATPase. Subunit H activates the ATPase activity of the enzyme and couples ATPase activity to proton flow. Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells, thus providing most of the energy required for transport processes in the vacuolar system (By similarity). Involved in the endocytosis mediated by clathrin-coated pits, required for the formation of endosomes. {ECO 0000250}. # GO_component GO:0000221 vacuolar proton-transporting V-type ATPase, V1 domain; NAS:UniProtKB. # GO_component GO:0005765 lysosomal membrane; IDA:UniProtKB. # GO_component GO:0005829 cytosol; TAS:Reactome. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0030234 enzyme regulator activity; NAS:UniProtKB. # GO_function GO:0046961 proton-transporting ATPase activity, rotational mechanism; IBA:GO_Central. # GO_process GO:0006897 endocytosis; IDA:UniProtKB. # GO_process GO:0007035 vacuolar acidification; NAS:UniProtKB. # GO_process GO:0008286 insulin receptor signaling pathway; TAS:Reactome. # GO_process GO:0015991 ATP hydrolysis coupled proton transport; NAS:UniProtKB. # GO_process GO:0016032 viral process; IEA:UniProtKB-KW. # GO_process GO:0016241 regulation of macroautophagy; NAS:ParkinsonsUK-UCL. # GO_process GO:0033572 transferrin transport; TAS:Reactome. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0050690 regulation of defense response to virus by virus; TAS:Reactome. # GO_process GO:0090383 phagosome acidification; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005829 cytosol # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0030234 enzyme regulator activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0016192 vesicle-mediated transport # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0044403 symbiosis, encompassing mutualism through parasitism # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.25.10.10 -; 1. # Gene3D 1.25.40.150 -; 1. # Genevisible Q9UI12 HS # HGNC HGNC:18303 ATP6V1H # IntAct Q9UI12 13 # InterPro IPR004908 ATPase_V1-cplx_hsu # InterPro IPR011987 ATPase_V1-cplx_hsu_C # InterPro IPR011989 ARM-like # InterPro IPR016024 ARM-type_fold # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Brite ko01000 Enzymes # KEGG_Pathway ko00190 Oxidative phosphorylation # KEGG_Pathway ko04142 Lysosome # KEGG_Pathway ko04145 Phagosome # KEGG_Pathway ko04721 Synaptic vesicle cycle # KEGG_Pathway ko05110 Vibrio cholerae infection # KEGG_Pathway ko05120 Epithelial cell signaling in Helicobacter pylori infection # KEGG_Pathway ko05152 Tuberculosis # KEGG_Pathway ko05323 Rheumatoid arthritis # MIM 608861 gene # Organism VATH_HUMAN Homo sapiens (Human) # PANTHER PTHR10698 PTHR10698 # PIRSF PIRSF032184 ATPase_V1_H # Pfam PF11698 V-ATPase_H_C # Proteomes UP000005640 Chromosome 8 # Reactome R-HSA-1222556 ROS, RNS production in response to bacteria # Reactome R-HSA-167590 Nef Mediated CD4 Down-regulation # Reactome R-HSA-182218 Nef Mediated CD8 Down-regulation # Reactome R-HSA-77387 Insulin receptor recycling # Reactome R-HSA-917977 Transferrin endocytosis and recycling # Reactome R-HSA-983712 Ion channel transport # RecName VATH_HUMAN V-type proton ATPase subunit H # RefSeq NP_057025 NM_015941.3. [Q9UI12-1] # RefSeq NP_998784 NM_213619.2. [Q9UI12-2] # RefSeq NP_998785 NM_213620.2. [Q9UI12-1] # RefSeq XP_006716518 XM_006716455.2. [Q9UI12-2] # SIMILARITY Belongs to the V-ATPase H subunit family. {ECO 0000305}. # SUBUNIT VATH_HUMAN V-ATPase is a heteromultimeric enzyme composed of a peripheral catalytic V1 complex (components A to H) attached to an integral membrane V0 proton pore complex (components a, c, c', c'' and d). Interacts with HIV-1 Nef protein (PubMed 12032142, PubMed 9620685). Interacts with AP2M1 (PubMed 12032142). Interacts with TM9SF4 in colon cancer cells (PubMed 25659576). {ECO 0000269|PubMed 12032142, ECO 0000269|PubMed 25659576, ECO 0000269|PubMed 9620685}. # SUPFAM SSF48371 SSF48371 # TCDB 3.A.2.2 the h(+)- or na(+)-translocating f-type, v-type and a-type atpase (f-atpase) superfamily # TISSUE SPECIFICITY Widely expressed. {ECO:0000269|PubMed 9620685}. # UCSC uc003xrl human. [Q9UI12-1] # eggNOG COG5231 LUCA # eggNOG KOG2759 Eukaryota BLAST swissprot:VATH_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:VATH_HUMAN BioCyc MetaCyc:HS00586-MONOMER http://biocyc.org/getid?id=MetaCyc:HS00586-MONOMER BioCyc ZFISH:HS00586-MONOMER http://biocyc.org/getid?id=ZFISH:HS00586-MONOMER COXPRESdb 51606 http://coxpresdb.jp/data/gene/51606.shtml CleanEx HS_ATP6V1H http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ATP6V1H DOI 10.1016/S1074-7613(00)80569-5 http://dx.doi.org/10.1016/S1074-7613(00)80569-5 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1016/j.molcel.2008.07.007 http://dx.doi.org/10.1016/j.molcel.2008.07.007 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1038/onc.2014.437 http://dx.doi.org/10.1038/onc.2014.437 DOI 10.1073/pnas.160270997 http://dx.doi.org/10.1073/pnas.160270997 DOI 10.1074/jbc.M200522200 http://dx.doi.org/10.1074/jbc.M200522200 DOI 10.1101/gr.10.5.703 http://dx.doi.org/10.1101/gr.10.5.703 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AF112204 http://www.ebi.ac.uk/ena/data/view/AF112204 EMBL AF113222 http://www.ebi.ac.uk/ena/data/view/AF113222 EMBL AF132945 http://www.ebi.ac.uk/ena/data/view/AF132945 EMBL AF298777 http://www.ebi.ac.uk/ena/data/view/AF298777 EMBL AK022345 http://www.ebi.ac.uk/ena/data/view/AK022345 EMBL BC025275 http://www.ebi.ac.uk/ena/data/view/BC025275 EMBL CH471068 http://www.ebi.ac.uk/ena/data/view/CH471068 Ensembl ENST00000355221 http://www.ensembl.org/id/ENST00000355221 Ensembl ENST00000359530 http://www.ensembl.org/id/ENST00000359530 Ensembl ENST00000396774 http://www.ensembl.org/id/ENST00000396774 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000221 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000221 GO_component GO:0005765 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005765 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0030234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030234 GO_function GO:0046961 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046961 GO_process GO:0006897 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006897 GO_process GO:0007035 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007035 GO_process GO:0008286 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008286 GO_process GO:0015991 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015991 GO_process GO:0016032 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016032 GO_process GO:0016241 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016241 GO_process GO:0033572 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033572 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0050690 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050690 GO_process GO:0090383 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090383 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0030234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030234 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0016192 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016192 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0044403 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044403 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.25.10.10 http://www.cathdb.info/version/latest/superfamily/1.25.10.10 Gene3D 1.25.40.150 http://www.cathdb.info/version/latest/superfamily/1.25.40.150 GeneCards ATP6V1H http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ATP6V1H GeneID 51606 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=51606 GeneTree ENSGT00390000003289 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000003289 HGNC HGNC:18303 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:18303 HOGENOM HOG000007240 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000007240&db=HOGENOM6 HOVERGEN HBG000459 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG000459&db=HOVERGEN HPA CAB009532 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB009532 HPA HPA023421 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA023421 InParanoid Q9UI12 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9UI12 IntAct Q9UI12 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9UI12* InterPro IPR004908 http://www.ebi.ac.uk/interpro/entry/IPR004908 InterPro IPR011987 http://www.ebi.ac.uk/interpro/entry/IPR011987 InterPro IPR011989 http://www.ebi.ac.uk/interpro/entry/IPR011989 InterPro IPR016024 http://www.ebi.ac.uk/interpro/entry/IPR016024 Jabion 51606 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=51606 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00002 http://www.genome.jp/dbget-bin/www_bget?ko00002 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Gene hsa:51606 http://www.genome.jp/dbget-bin/www_bget?hsa:51606 KEGG_Orthology KO:K02144 http://www.genome.jp/dbget-bin/www_bget?KO:K02144 KEGG_Pathway ko00190 http://www.genome.jp/kegg-bin/show_pathway?ko00190 KEGG_Pathway ko04142 http://www.genome.jp/kegg-bin/show_pathway?ko04142 KEGG_Pathway ko04145 http://www.genome.jp/kegg-bin/show_pathway?ko04145 KEGG_Pathway ko04721 http://www.genome.jp/kegg-bin/show_pathway?ko04721 KEGG_Pathway ko05110 http://www.genome.jp/kegg-bin/show_pathway?ko05110 KEGG_Pathway ko05120 http://www.genome.jp/kegg-bin/show_pathway?ko05120 KEGG_Pathway ko05152 http://www.genome.jp/kegg-bin/show_pathway?ko05152 KEGG_Pathway ko05323 http://www.genome.jp/kegg-bin/show_pathway?ko05323 MIM 608861 http://www.ncbi.nlm.nih.gov/omim/608861 MINT MINT-5006690 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-5006690 OMA VIPNNEY http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=VIPNNEY OrthoDB EOG091G0NQW http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0NQW PANTHER PTHR10698 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10698 PSORT swissprot:VATH_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:VATH_HUMAN PSORT-B swissprot:VATH_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:VATH_HUMAN PSORT2 swissprot:VATH_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:VATH_HUMAN Pfam PF11698 http://pfam.xfam.org/family/PF11698 PharmGKB PA38521 http://www.pharmgkb.org/do/serve?objId=PA38521&objCls=Gene Phobius swissprot:VATH_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:VATH_HUMAN PhylomeDB Q9UI12 http://phylomedb.org/?seqid=Q9UI12 ProteinModelPortal Q9UI12 http://www.proteinmodelportal.org/query/uniprot/Q9UI12 PubMed 10810093 http://www.ncbi.nlm.nih.gov/pubmed/10810093 PubMed 10931946 http://www.ncbi.nlm.nih.gov/pubmed/10931946 PubMed 12032142 http://www.ncbi.nlm.nih.gov/pubmed/12032142 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 18691976 http://www.ncbi.nlm.nih.gov/pubmed/18691976 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 25659576 http://www.ncbi.nlm.nih.gov/pubmed/25659576 PubMed 9620685 http://www.ncbi.nlm.nih.gov/pubmed/9620685 Reactome R-HSA-1222556 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1222556 Reactome R-HSA-167590 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-167590 Reactome R-HSA-182218 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-182218 Reactome R-HSA-77387 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-77387 Reactome R-HSA-917977 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-917977 Reactome R-HSA-983712 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-983712 RefSeq NP_057025 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_057025 RefSeq NP_998784 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_998784 RefSeq NP_998785 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_998785 RefSeq XP_006716518 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006716518 STRING 9606.ENSP00000352522 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000352522&targetmode=cogs SUPFAM SSF48371 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48371 TCDB 3.A.2.2 http://www.tcdb.org/search/result.php?tc=3.A.2.2 UCSC uc003xrl http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003xrl&org=rat UniGene Hs.491737 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.491737 UniProtKB VATH_HUMAN http://www.uniprot.org/uniprot/VATH_HUMAN UniProtKB-AC Q9UI12 http://www.uniprot.org/uniprot/Q9UI12 charge swissprot:VATH_HUMAN http://rest.g-language.org/emboss/charge/swissprot:VATH_HUMAN eggNOG COG5231 http://eggnogapi.embl.de/nog_data/html/tree/COG5231 eggNOG KOG2759 http://eggnogapi.embl.de/nog_data/html/tree/KOG2759 epestfind swissprot:VATH_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:VATH_HUMAN garnier swissprot:VATH_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:VATH_HUMAN helixturnhelix swissprot:VATH_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:VATH_HUMAN hmoment swissprot:VATH_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:VATH_HUMAN iep swissprot:VATH_HUMAN http://rest.g-language.org/emboss/iep/swissprot:VATH_HUMAN inforesidue swissprot:VATH_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:VATH_HUMAN neXtProt NX_Q9UI12 http://www.nextprot.org/db/entry/NX_Q9UI12 octanol swissprot:VATH_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:VATH_HUMAN pepcoil swissprot:VATH_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:VATH_HUMAN pepdigest swissprot:VATH_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:VATH_HUMAN pepinfo swissprot:VATH_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:VATH_HUMAN pepnet swissprot:VATH_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:VATH_HUMAN pepstats swissprot:VATH_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:VATH_HUMAN pepwheel swissprot:VATH_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:VATH_HUMAN pepwindow swissprot:VATH_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:VATH_HUMAN sigcleave swissprot:VATH_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:VATH_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS IPO11_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9UI26-1; Sequence=Displayed; Name=2; IsoId=Q9UI26-2; Sequence=VSP_041420; # AltName IPO11_HUMAN Ran-binding protein 11 # BioGrid 119368 70 # CCDS CCDS34167 -. [Q9UI26-1] # CCDS CCDS47217 -. [Q9UI26-2] # ChiTaRS IPO11 human # Ensembl ENST00000325324 ENSP00000316651; ENSG00000086200. [Q9UI26-1] # Ensembl ENST00000409296 ENSP00000386992; ENSG00000086200. [Q9UI26-2] # ExpressionAtlas Q9UI26 baseline and differential # FUNCTION IPO11_HUMAN Functions in nuclear protein import as nuclear transport receptor. Serves as receptor for nuclear localization signals (NLS) in cargo substrates. Is thought to mediate docking of the importin/substrate complex to the nuclear pore complex (NPC) through binding to nucleoporin and the complex is subsequently translocated through the pore by an energy requiring, Ran- dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to the importin, the importin/substrate complex dissociates and importin is re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus (By similarity). Mediates the nuclear import of UBE2E3, and of RPL12 (By similarity). {ECO 0000250, ECO 0000269|PubMed 11032817}. # GO_component GO:0005635 nuclear envelope; IBA:GO_Central. # GO_component GO:0005829 cytosol; IBA:GO_Central. # GO_function GO:0008565 protein transporter activity; IBA:GO_Central. # GO_process GO:0006610 ribosomal protein import into nucleus; IEA:Ensembl. # GO_process GO:0042991 transcription factor import into nucleus; IBA:GO_Central. # GOslim_component GO:0005635 nuclear envelope # GOslim_component GO:0005829 cytosol # GOslim_function GO:0008565 protein transporter activity # GOslim_process GO:0006913 nucleocytoplasmic transport # Gene3D 1.25.10.10 -; 2. # Genevisible Q9UI26 HS # HGNC HGNC:20628 IPO11 # INTERACTION IPO11_HUMAN Q6P1W5 C1orf94; NbExp=3; IntAct=EBI-748752, EBI-946029; Q14240 EIF4A2; NbExp=3; IntAct=EBI-748752, EBI-73473; # IntAct Q9UI26 9 # InterPro IPR001494 Importin-beta_N # InterPro IPR011989 ARM-like # InterPro IPR016024 ARM-type_fold # MIM 610889 gene # Organism IPO11_HUMAN Homo sapiens (Human) # PIR T47185 T47185 # PROSITE PS50166 IMPORTIN_B_NT # Pfam PF03810 IBN_N # Proteomes UP000005640 Chromosome 5 # RecName IPO11_HUMAN Importin-11 # RefSeq NP_001128251 NM_001134779.1. [Q9UI26-2] # RefSeq NP_057422 NM_016338.4. [Q9UI26-1] # SIMILARITY Belongs to the importin beta family. {ECO 0000305}. # SIMILARITY Contains 1 importin N-terminal domain. {ECO:0000255|PROSITE-ProRule PRU00115}. # SIMILARITY Contains 15 HEAT repeats. {ECO 0000305}. # SMART SM00913 IBN_N # SUBCELLULAR LOCATION IPO11_HUMAN Cytoplasm {ECO 0000269|PubMed 11032817}. Nucleus {ECO 0000269|PubMed 11032817}. # SUBUNIT Interacts with UBE2E3 and RPL12. {ECO:0000269|PubMed 11032817}. # SUPFAM SSF48371 SSF48371 # TCDB 1.I.1.1 the nuclear pore complex (npc) family # UCSC uc003jtc human. [Q9UI26-1] # eggNOG COG5657 LUCA # eggNOG KOG1993 Eukaryota BLAST swissprot:IPO11_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:IPO11_HUMAN COXPRESdb 51194 http://coxpresdb.jp/data/gene/51194.shtml CleanEx HS_IPO11 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_IPO11 DOI 10.1021/ac9004309 http://dx.doi.org/10.1021/ac9004309 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature02919 http://dx.doi.org/10.1038/nature02919 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1093/emboj/19.20.5502 http://dx.doi.org/10.1093/emboj/19.20.5502 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AC008859 http://www.ebi.ac.uk/ena/data/view/AC008859 EMBL AF111109 http://www.ebi.ac.uk/ena/data/view/AF111109 EMBL AK001696 http://www.ebi.ac.uk/ena/data/view/AK001696 EMBL AK302781 http://www.ebi.ac.uk/ena/data/view/AK302781 EMBL AL162083 http://www.ebi.ac.uk/ena/data/view/AL162083 EMBL BC031694 http://www.ebi.ac.uk/ena/data/view/BC031694 EMBL BC033776 http://www.ebi.ac.uk/ena/data/view/BC033776 EMBL CH471137 http://www.ebi.ac.uk/ena/data/view/CH471137 EMBL CH471137 http://www.ebi.ac.uk/ena/data/view/CH471137 Ensembl ENST00000325324 http://www.ensembl.org/id/ENST00000325324 Ensembl ENST00000409296 http://www.ensembl.org/id/ENST00000409296 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005635 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005635 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GO_process GO:0006610 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006610 GO_process GO:0042991 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042991 GOslim_component GO:0005635 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005635 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_process GO:0006913 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006913 Gene3D 1.25.10.10 http://www.cathdb.info/version/latest/superfamily/1.25.10.10 GeneCards IPO11 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=IPO11 GeneID 51194 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=51194 GeneTree ENSGT00390000014071 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000014071 HGNC HGNC:20628 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:20628 HOGENOM HOG000008140 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000008140&db=HOGENOM6 HOVERGEN HBG061387 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG061387&db=HOVERGEN HPA HPA067097 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA067097 InParanoid Q9UI26 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9UI26 IntAct Q9UI26 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9UI26* InterPro IPR001494 http://www.ebi.ac.uk/interpro/entry/IPR001494 InterPro IPR011989 http://www.ebi.ac.uk/interpro/entry/IPR011989 InterPro IPR016024 http://www.ebi.ac.uk/interpro/entry/IPR016024 Jabion 51194 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=51194 KEGG_Gene hsa:51194 http://www.genome.jp/dbget-bin/www_bget?hsa:51194 MIM 610889 http://www.ncbi.nlm.nih.gov/omim/610889 MINT MINT-1460740 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1460740 OMA LLLIRAC http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=LLLIRAC OrthoDB EOG091G01EL http://cegg.unige.ch/orthodb/results?searchtext=EOG091G01EL PROSITE PS50166 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50166 PSORT swissprot:IPO11_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:IPO11_HUMAN PSORT-B swissprot:IPO11_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:IPO11_HUMAN PSORT2 swissprot:IPO11_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:IPO11_HUMAN Pfam PF03810 http://pfam.xfam.org/family/PF03810 PharmGKB PA134936197 http://www.pharmgkb.org/do/serve?objId=PA134936197&objCls=Gene Phobius swissprot:IPO11_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:IPO11_HUMAN PhylomeDB Q9UI26 http://phylomedb.org/?seqid=Q9UI26 ProteinModelPortal Q9UI26 http://www.proteinmodelportal.org/query/uniprot/Q9UI26 PubMed 11032817 http://www.ncbi.nlm.nih.gov/pubmed/11032817 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15372022 http://www.ncbi.nlm.nih.gov/pubmed/15372022 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 PubMed 19413330 http://www.ncbi.nlm.nih.gov/pubmed/19413330 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 RefSeq NP_001128251 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001128251 RefSeq NP_057422 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_057422 SMART SM00913 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00913 STRING 9606.ENSP00000386992 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000386992&targetmode=cogs SUPFAM SSF48371 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48371 TCDB 1.I.1.1 http://www.tcdb.org/search/result.php?tc=1.I.1.1 UCSC uc003jtc http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003jtc&org=rat UniGene Hs.482269 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.482269 UniProtKB IPO11_HUMAN http://www.uniprot.org/uniprot/IPO11_HUMAN UniProtKB-AC Q9UI26 http://www.uniprot.org/uniprot/Q9UI26 charge swissprot:IPO11_HUMAN http://rest.g-language.org/emboss/charge/swissprot:IPO11_HUMAN eggNOG COG5657 http://eggnogapi.embl.de/nog_data/html/tree/COG5657 eggNOG KOG1993 http://eggnogapi.embl.de/nog_data/html/tree/KOG1993 epestfind swissprot:IPO11_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:IPO11_HUMAN garnier swissprot:IPO11_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:IPO11_HUMAN helixturnhelix swissprot:IPO11_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:IPO11_HUMAN hmoment swissprot:IPO11_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:IPO11_HUMAN iep swissprot:IPO11_HUMAN http://rest.g-language.org/emboss/iep/swissprot:IPO11_HUMAN inforesidue swissprot:IPO11_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:IPO11_HUMAN neXtProt NX_Q9UI26 http://www.nextprot.org/db/entry/NX_Q9UI26 octanol swissprot:IPO11_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:IPO11_HUMAN pepcoil swissprot:IPO11_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:IPO11_HUMAN pepdigest swissprot:IPO11_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:IPO11_HUMAN pepinfo swissprot:IPO11_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:IPO11_HUMAN pepnet swissprot:IPO11_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:IPO11_HUMAN pepstats swissprot:IPO11_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:IPO11_HUMAN pepwheel swissprot:IPO11_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:IPO11_HUMAN pepwindow swissprot:IPO11_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:IPO11_HUMAN sigcleave swissprot:IPO11_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:IPO11_HUMAN ## Database ID URL or Descriptions # AltName BEST4_HUMAN Vitelliform macular dystrophy 2-like protein 2 # Ensembl ENST00000372207 ENSP00000361281; ENSG00000142959 # FUNCTION BEST4_HUMAN Forms calcium-sensitive chloride channels. Permeable to bicarbonate. {ECO 0000269|PubMed 12907679, ECO 0000269|PubMed 18400985}. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0034707 chloride channel complex; IBA:GO_Central. # GO_function GO:0005254 chloride channel activity; IEA:UniProtKB-KW. # GO_process GO:1902476 chloride transmembrane transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0055085 transmembrane transport # Genevisible Q8NFU0 HS # HGNC HGNC:17106 BEST4 # InterPro IPR000615 Bestrophin # InterPro IPR021134 Bestrophin/UPF0187 # KEGG_Brite ko02000 Transporters # MIM 607336 gene # Organism BEST4_HUMAN Homo sapiens (Human) # PANTHER PTHR10736 PTHR10736 # Pfam PF01062 Bestrophin # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-2672351 Stimuli-sensing channels # RecName BEST4_HUMAN Bestrophin-4 # RefSeq NP_695006 NM_153274.2 # RefSeq XP_016856511 XM_017001022.1 # RefSeq XP_016856512 XM_017001023.1 # SIMILARITY Belongs to the bestrophin family. {ECO 0000305}. # SUBCELLULAR LOCATION BEST4_HUMAN Cell membrane; Multi-pass membrane protein. # TISSUE SPECIFICITY Predominantly found in colon and the weakly in fetal brain, spinal cord, retina, lung, trachea, testis and placenta. {ECO:0000269|PubMed 12032738}. # UCSC uc001cmm human # eggNOG ENOG410XS3J LUCA # eggNOG KOG3547 Eukaryota BLAST swissprot:BEST4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:BEST4_HUMAN BioCyc ZFISH:ENSG00000142959-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000142959-MONOMER COXPRESdb 266675 http://coxpresdb.jp/data/gene/266675.shtml CleanEx HS_BEST4 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_BEST4 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1038/sj.ejhg.5200796 http://dx.doi.org/10.1038/sj.ejhg.5200796 DOI 10.1074/jbc.M306150200 http://dx.doi.org/10.1074/jbc.M306150200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1152/ajpcell.00398.2007 http://dx.doi.org/10.1152/ajpcell.00398.2007 EMBL AF440757 http://www.ebi.ac.uk/ena/data/view/AF440757 EMBL AL592166 http://www.ebi.ac.uk/ena/data/view/AL592166 EMBL AY515707 http://www.ebi.ac.uk/ena/data/view/AY515707 EMBL BC101823 http://www.ebi.ac.uk/ena/data/view/BC101823 Ensembl ENST00000372207 http://www.ensembl.org/id/ENST00000372207 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0034707 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034707 GO_function GO:0005254 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005254 GO_process GO:1902476 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902476 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards BEST4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=BEST4 GeneID 266675 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=266675 GeneTree ENSGT00390000002997 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000002997 HGNC HGNC:17106 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:17106 HOGENOM HOG000115678 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000115678&db=HOGENOM6 HOVERGEN HBG044928 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG044928&db=HOVERGEN HPA HPA058564 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA058564 InParanoid Q8NFU0 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8NFU0 IntAct Q8NFU0 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q8NFU0* InterPro IPR000615 http://www.ebi.ac.uk/interpro/entry/IPR000615 InterPro IPR021134 http://www.ebi.ac.uk/interpro/entry/IPR021134 Jabion 266675 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=266675 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Gene hsa:266675 http://www.genome.jp/dbget-bin/www_bget?hsa:266675 KEGG_Orthology KO:K13881 http://www.genome.jp/dbget-bin/www_bget?KO:K13881 MIM 607336 http://www.ncbi.nlm.nih.gov/omim/607336 MINT MINT-7969671 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-7969671 OMA PHSIAVF http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=PHSIAVF OrthoDB EOG091G06XO http://cegg.unige.ch/orthodb/results?searchtext=EOG091G06XO PANTHER PTHR10736 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10736 PSORT swissprot:BEST4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:BEST4_HUMAN PSORT-B swissprot:BEST4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:BEST4_HUMAN PSORT2 swissprot:BEST4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:BEST4_HUMAN Pfam PF01062 http://pfam.xfam.org/family/PF01062 PharmGKB PA162377520 http://www.pharmgkb.org/do/serve?objId=PA162377520&objCls=Gene Phobius swissprot:BEST4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:BEST4_HUMAN PhylomeDB Q8NFU0 http://phylomedb.org/?seqid=Q8NFU0 ProteinModelPortal Q8NFU0 http://www.proteinmodelportal.org/query/uniprot/Q8NFU0 PubMed 12032738 http://www.ncbi.nlm.nih.gov/pubmed/12032738 PubMed 12907679 http://www.ncbi.nlm.nih.gov/pubmed/12907679 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 18400985 http://www.ncbi.nlm.nih.gov/pubmed/18400985 Reactome R-HSA-2672351 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2672351 RefSeq NP_695006 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_695006 RefSeq XP_016856511 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016856511 RefSeq XP_016856512 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016856512 SMR Q8NFU0 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q8NFU0 STRING 9606.ENSP00000361281 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000361281&targetmode=cogs UCSC uc001cmm http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001cmm&org=rat UniGene Hs.302513 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.302513 UniProtKB BEST4_HUMAN http://www.uniprot.org/uniprot/BEST4_HUMAN UniProtKB-AC Q8NFU0 http://www.uniprot.org/uniprot/Q8NFU0 charge swissprot:BEST4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:BEST4_HUMAN eggNOG ENOG410XS3J http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XS3J eggNOG KOG3547 http://eggnogapi.embl.de/nog_data/html/tree/KOG3547 epestfind swissprot:BEST4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:BEST4_HUMAN garnier swissprot:BEST4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:BEST4_HUMAN helixturnhelix swissprot:BEST4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:BEST4_HUMAN hmoment swissprot:BEST4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:BEST4_HUMAN iep swissprot:BEST4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:BEST4_HUMAN inforesidue swissprot:BEST4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:BEST4_HUMAN neXtProt NX_Q8NFU0 http://www.nextprot.org/db/entry/NX_Q8NFU0 octanol swissprot:BEST4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:BEST4_HUMAN pepcoil swissprot:BEST4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:BEST4_HUMAN pepdigest swissprot:BEST4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:BEST4_HUMAN pepinfo swissprot:BEST4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:BEST4_HUMAN pepnet swissprot:BEST4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:BEST4_HUMAN pepstats swissprot:BEST4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:BEST4_HUMAN pepwheel swissprot:BEST4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:BEST4_HUMAN pepwindow swissprot:BEST4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:BEST4_HUMAN sigcleave swissprot:BEST4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:BEST4_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S29A3_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9BZD2-1; Sequence=Displayed; Name=2; IsoId=Q9BZD2-2; Sequence=VSP_037436; Note=No experimental confirmation available.; # AltName S29A3_HUMAN Solute carrier family 29 member 3 # BIOPHYSICOCHEMICAL PROPERTIES S29A3_HUMAN Kinetic parameters KM=1.86 mM for adenosine {ECO 0000269|PubMed 15701636}; KM=2.02 mM for uridine {ECO 0000269|PubMed 15701636}; pH dependence Optimum pH is 5.5 for adenosine uptake. {ECO 0000269|PubMed 15701636}; # CCDS CCDS7310 -. [Q9BZD2-1] # ChiTaRS SLC29A3 human # DISEASE S29A3_HUMAN Histiocytosis-lymphadenopathy plus syndrome (HLAS) [MIM 602782] A syndrome characterized by the combination of features from 2 or more of four histiocytic disorders, originally thought to be distinct Faisalabad histiocytosis (FHC), sinus histiocytosis with massive lymphadenopathy (SHML), H syndrome, and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome (PHID). FHC features include joint deformities, sensorineural hearing loss, and subsequent development of generalized lymphadenopathy and swellings in the eyelids that contain histiocytes. SHML causes lymph node enlargement in children frequently accompanied by fever, leukocytosis, elevated erythrocyte sedimentation rate, and polyclonal hypergammaglobulinemia. H syndrome is characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism; hearing loss is found in about half of patients. PHID is characterized by predominantly antibody- negative insulin-dependent diabetes mellitus associated with pigmented hypertrichosis and variable occurrence of other features of H syndrome. {ECO 0000269|PubMed 18940313, ECO 0000269|PubMed 19336477, ECO 0000269|PubMed 19889517, ECO 0000269|PubMed 20140240, ECO 0000269|PubMed 20199539, ECO 0000269|PubMed 20399510, ECO 0000269|PubMed 20619369, ECO 0000269|PubMed 21888995}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000373189 ENSP00000362285; ENSG00000198246. [Q9BZD2-1] # FUNCTION S29A3_HUMAN Mediates both influx and efflux of nucleosides across the membrane (equilibrative transporter). Mediates transport of adenine, adenosine and uridine, as well as several nucleoside analog drugs, such as anticancer and antiviral agents, including cladribine, cordycepin, tubercidin and AZT. Does not transport hypoxanthine. {ECO 0000269|PubMed 15701636}. # GO_component GO:0005765 lysosomal membrane; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0031902 late endosome membrane; IEA:UniProtKB-SubCell. # GO_function GO:0005337 nucleoside transmembrane transporter activity; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # Genevisible Q9BZD2 HS # HGNC HGNC:23096 SLC29A3 # InterPro IPR002259 Eqnu_transpt # InterPro IPR030193 ENT3 # KEGG_Brite ko02001 Solute carrier family # KEGG_Disease H00815 [Developmental disorder] H syndrome # MIM 602782 phenotype # MIM 612373 gene # Organism S29A3_HUMAN Homo sapiens (Human) # Orphanet 168569 H syndrome # Orphanet 1782 Dysosteosclerosis # PANTHER PTHR10332 PTHR10332 # PANTHER PTHR10332:SF17 PTHR10332:SF17 # PIRSF PIRSF016379 ENT # PRINTS PR01130 DERENTRNSPRT # Pfam PF01733 Nucleoside_tran # Proteomes UP000005640 Chromosome 10 # Reactome R-HSA-83936 Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane # RecName S29A3_HUMAN Equilibrative nucleoside transporter 3 # RefSeq NP_001167569 NM_001174098.1 # RefSeq NP_060814 NM_018344.5. [Q9BZD2-1] # RefSeq XP_016871866 XM_017016377.1. [Q9BZD2-2] # SEQUENCE CAUTION Sequence=BAA92041.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the SLC29A/ENT transporter (TC 2.A.57) family. {ECO 0000305}. # SUBCELLULAR LOCATION S29A3_HUMAN Membrane; Multi-pass membrane protein. Late endosome membrane. Lysosome membrane. Note=Observed in a punctate intracellular pattern showing partial colocalization with late endosomes/lysosomes. Not detected at the cell surface. # TCDB 2.A.57.1 the equilibrative nucleoside transporter (ent) family # TISSUE SPECIFICITY Widely expressed in both adult and fetal tissues. Highest levels in placenta, uterus, ovary, spleen, lymph node and bone marrow. Lowest levels in brain and heart. {ECO:0000269|PubMed 15701636}. # UCSC uc001jrr human. [Q9BZD2-1] # eggNOG ENOG410Y3MT LUCA # eggNOG KOG1479 Eukaryota BLAST swissprot:S29A3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S29A3_HUMAN BioCyc ZFISH:G66-33817-MONOMER http://biocyc.org/getid?id=ZFISH:G66-33817-MONOMER COXPRESdb 55315 http://coxpresdb.jp/data/gene/55315.shtml CleanEx HS_SLC29A3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC29A3 DOI 10.1016/j.ajhg.2008.09.013 http://dx.doi.org/10.1016/j.ajhg.2008.09.013 DOI 10.1016/j.ejmg.2010.06.012 http://dx.doi.org/10.1016/j.ejmg.2010.06.012 DOI 10.1016/j.ejmg.2011.06.009 http://dx.doi.org/10.1016/j.ejmg.2011.06.009 DOI 10.1016/j.ijporl.2010.03.053 http://dx.doi.org/10.1016/j.ijporl.2010.03.053 DOI 10.1016/j.jdermsci.2009.09.011 http://dx.doi.org/10.1016/j.jdermsci.2009.09.011 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature02462 http://dx.doi.org/10.1038/nature02462 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.M110.109199 http://dx.doi.org/10.1074/jbc.M110.109199 DOI 10.1074/jbc.M414337200 http://dx.doi.org/10.1074/jbc.M414337200 DOI 10.1080/09687680110033765 http://dx.doi.org/10.1080/09687680110033765 DOI 10.1093/hmg/ddp161 http://dx.doi.org/10.1093/hmg/ddp161 DOI 10.1093/nar/gkf564 http://dx.doi.org/10.1093/nar/gkf564 DOI 10.1101/gr.1293003 http://dx.doi.org/10.1101/gr.1293003 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1365-2133.2010.09653.x http://dx.doi.org/10.1111/j.1365-2133.2010.09653.x DOI 10.1111/j.1600-0854.2007.00643.x http://dx.doi.org/10.1111/j.1600-0854.2007.00643.x DOI 10.1371/journal.pgen.1000833 http://dx.doi.org/10.1371/journal.pgen.1000833 EMBL AF326987 http://www.ebi.ac.uk/ena/data/view/AF326987 EMBL AK002022 http://www.ebi.ac.uk/ena/data/view/AK002022 EMBL AK304503 http://www.ebi.ac.uk/ena/data/view/AK304503 EMBL AK314497 http://www.ebi.ac.uk/ena/data/view/AK314497 EMBL AK316152 http://www.ebi.ac.uk/ena/data/view/AK316152 EMBL AL359183 http://www.ebi.ac.uk/ena/data/view/AL359183 EMBL AL359183 http://www.ebi.ac.uk/ena/data/view/AL359183 EMBL AL359384 http://www.ebi.ac.uk/ena/data/view/AL359384 EMBL AL359384 http://www.ebi.ac.uk/ena/data/view/AL359384 EMBL AY288928 http://www.ebi.ac.uk/ena/data/view/AY288928 EMBL AY358686 http://www.ebi.ac.uk/ena/data/view/AY358686 EMBL BC000223 http://www.ebi.ac.uk/ena/data/view/BC000223 EMBL BC041575 http://www.ebi.ac.uk/ena/data/view/BC041575 EMBL BC120996 http://www.ebi.ac.uk/ena/data/view/BC120996 EMBL BC120997 http://www.ebi.ac.uk/ena/data/view/BC120997 EMBL BK000392 http://www.ebi.ac.uk/ena/data/view/BK000392 Ensembl ENST00000373189 http://www.ensembl.org/id/ENST00000373189 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005765 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005765 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0031902 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031902 GO_function GO:0005337 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005337 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GeneCards SLC29A3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC29A3 GeneID 55315 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=55315 GeneTree ENSGT00390000002232 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000002232 H-InvDB HIX0008903 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0008903 HGNC HGNC:23096 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:23096 HOVERGEN HBG108444 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG108444&db=HOVERGEN HPA HPA054976 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA054976 InParanoid Q9BZD2 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9BZD2 InterPro IPR002259 http://www.ebi.ac.uk/interpro/entry/IPR002259 InterPro IPR030193 http://www.ebi.ac.uk/interpro/entry/IPR030193 Jabion 55315 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=55315 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Disease H00815 http://www.genome.jp/dbget-bin/www_bget?H00815 KEGG_Gene hsa:55315 http://www.genome.jp/dbget-bin/www_bget?hsa:55315 KEGG_Orthology KO:K15014 http://www.genome.jp/dbget-bin/www_bget?KO:K15014 MIM 602782 http://www.ncbi.nlm.nih.gov/omim/602782 MIM 612373 http://www.ncbi.nlm.nih.gov/omim/612373 OMA YYMRPVL http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=YYMRPVL Orphanet 168569 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=168569 Orphanet 1782 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1782 OrthoDB EOG091G09WB http://cegg.unige.ch/orthodb/results?searchtext=EOG091G09WB PANTHER PTHR10332 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10332 PANTHER PTHR10332:SF17 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10332:SF17 PRINTS PR01130 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01130 PSORT swissprot:S29A3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S29A3_HUMAN PSORT-B swissprot:S29A3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S29A3_HUMAN PSORT2 swissprot:S29A3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S29A3_HUMAN Pfam PF01733 http://pfam.xfam.org/family/PF01733 PharmGKB PA134950750 http://www.pharmgkb.org/do/serve?objId=PA134950750&objCls=Gene Phobius swissprot:S29A3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S29A3_HUMAN PhylomeDB Q9BZD2 http://phylomedb.org/?seqid=Q9BZD2 ProteinModelPortal Q9BZD2 http://www.proteinmodelportal.org/query/uniprot/Q9BZD2 PubMed 11396612 http://www.ncbi.nlm.nih.gov/pubmed/11396612 PubMed 12384580 http://www.ncbi.nlm.nih.gov/pubmed/12384580 PubMed 12975309 http://www.ncbi.nlm.nih.gov/pubmed/12975309 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15164054 http://www.ncbi.nlm.nih.gov/pubmed/15164054 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15701636 http://www.ncbi.nlm.nih.gov/pubmed/15701636 PubMed 17897319 http://www.ncbi.nlm.nih.gov/pubmed/17897319 PubMed 18940313 http://www.ncbi.nlm.nih.gov/pubmed/18940313 PubMed 19336477 http://www.ncbi.nlm.nih.gov/pubmed/19336477 PubMed 19889517 http://www.ncbi.nlm.nih.gov/pubmed/19889517 PubMed 20140240 http://www.ncbi.nlm.nih.gov/pubmed/20140240 PubMed 20199539 http://www.ncbi.nlm.nih.gov/pubmed/20199539 PubMed 20399510 http://www.ncbi.nlm.nih.gov/pubmed/20399510 PubMed 20595384 http://www.ncbi.nlm.nih.gov/pubmed/20595384 PubMed 20619369 http://www.ncbi.nlm.nih.gov/pubmed/20619369 PubMed 21888995 http://www.ncbi.nlm.nih.gov/pubmed/21888995 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 Reactome R-HSA-83936 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-83936 RefSeq NP_001167569 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001167569 RefSeq NP_060814 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_060814 RefSeq XP_016871866 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016871866 STRING 9606.ENSP00000362285 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000362285&targetmode=cogs TCDB 2.A.57.1 http://www.tcdb.org/search/result.php?tc=2.A.57.1 UCSC uc001jrr http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001jrr&org=rat UniGene Hs.438419 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.438419 UniProtKB S29A3_HUMAN http://www.uniprot.org/uniprot/S29A3_HUMAN UniProtKB-AC Q9BZD2 http://www.uniprot.org/uniprot/Q9BZD2 charge swissprot:S29A3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S29A3_HUMAN eggNOG ENOG410Y3MT http://eggnogapi.embl.de/nog_data/html/tree/ENOG410Y3MT eggNOG KOG1479 http://eggnogapi.embl.de/nog_data/html/tree/KOG1479 epestfind swissprot:S29A3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S29A3_HUMAN garnier swissprot:S29A3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S29A3_HUMAN helixturnhelix swissprot:S29A3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S29A3_HUMAN hmoment swissprot:S29A3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S29A3_HUMAN iep swissprot:S29A3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S29A3_HUMAN inforesidue swissprot:S29A3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S29A3_HUMAN neXtProt NX_Q9BZD2 http://www.nextprot.org/db/entry/NX_Q9BZD2 octanol swissprot:S29A3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S29A3_HUMAN pepcoil swissprot:S29A3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S29A3_HUMAN pepdigest swissprot:S29A3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S29A3_HUMAN pepinfo swissprot:S29A3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S29A3_HUMAN pepnet swissprot:S29A3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S29A3_HUMAN pepstats swissprot:S29A3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S29A3_HUMAN pepwheel swissprot:S29A3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S29A3_HUMAN pepwindow swissprot:S29A3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S29A3_HUMAN sigcleave swissprot:S29A3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S29A3_HUMAN ## Database ID URL or Descriptions # AltName VPP4_HUMAN Vacuolar proton translocating ATPase 116 kDa subunit a isoform 4 # AltName VPP4_HUMAN Vacuolar proton translocating ATPase 116 kDa subunit a kidney isoform # ChiTaRS ATP6V0A4 human # DISEASE VPP4_HUMAN Renal tubular acidosis, distal, autosomal recessive (RTADR) [MIM 602722] An autosomal recessive disease characterized by reduced ability to acidify urine, variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis. It is due to functional failure of alpha- intercalated cells of the cortical collecting duct of the distal nephron, where vectorial proton transport is required for urinary acidification. {ECO 0000269|PubMed 10973252, ECO 0000269|PubMed 12414817}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000310018 ENSP00000308122; ENSG00000105929 # Ensembl ENST00000353492 ENSP00000253856; ENSG00000105929 # Ensembl ENST00000393054 ENSP00000376774; ENSG00000105929 # ExpressionAtlas Q9HBG4 baseline and differential # FUNCTION VPP4_HUMAN Part of the proton channel of the V-ATPase that is involved in normal vectorial acid transport into the urine by the kidney. {ECO 0000250}. # GO_component GO:0000220 vacuolar proton-transporting V-type ATPase, V0 domain; IEA:InterPro. # GO_component GO:0005765 lysosomal membrane; IDA:UniProtKB. # GO_component GO:0005768 endosome; ISS:UniProtKB. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0010008 endosome membrane; TAS:Reactome. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0016324 apical plasma membrane; IDA:UniProtKB. # GO_component GO:0030670 phagocytic vesicle membrane; TAS:Reactome. # GO_component GO:0031526 brush border membrane; IDA:HGNC. # GO_component GO:0045177 apical part of cell; IDA:UniProtKB. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0046961 proton-transporting ATPase activity, rotational mechanism; IBA:GO_Central. # GO_function GO:0051117 ATPase binding; IPI:UniProtKB. # GO_process GO:0001503 ossification; IMP:HGNC. # GO_process GO:0006885 regulation of pH; IMP:HGNC. # GO_process GO:0007035 vacuolar acidification; IBA:GO_Central. # GO_process GO:0007588 excretion; IMP:HGNC. # GO_process GO:0007605 sensory perception of sound; IMP:HGNC. # GO_process GO:0008286 insulin receptor signaling pathway; TAS:Reactome. # GO_process GO:0015986 ATP synthesis coupled proton transport; IBA:GO_Central. # GO_process GO:0015991 ATP hydrolysis coupled proton transport; IEA:Ensembl. # GO_process GO:0015992 proton transport; IMP:HGNC. # GO_process GO:0033572 transferrin transport; TAS:Reactome. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0070072 vacuolar proton-transporting V-type ATPase complex assembly; IBA:GO_Central. # GO_process GO:0090383 phagosome acidification; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005768 endosome # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0019899 enzyme binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0044281 small molecule metabolic process # GOslim_process GO:0050877 neurological system process # GOslim_process GO:0055085 transmembrane transport # Genevisible Q9HBG4 HS # HGNC HGNC:866 ATP6V0A4 # InterPro IPR002490 V-ATPase_116kDa_su # InterPro IPR026028 V-type_ATPase_116kDa_su_euka # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Brite ko01000 Enzymes # KEGG_Disease H00428 [Urinary system disease] Distal renal tubular acidosis (RTA type 1) # KEGG_Pathway ko00190 Oxidative phosphorylation # KEGG_Pathway ko04142 Lysosome # KEGG_Pathway ko04145 Phagosome # KEGG_Pathway ko04721 Synaptic vesicle cycle # KEGG_Pathway ko04966 Collecting duct acid secretion # KEGG_Pathway ko05110 Vibrio cholerae infection # KEGG_Pathway ko05120 Epithelial cell signaling in Helicobacter pylori infection # KEGG_Pathway ko05152 Tuberculosis # KEGG_Pathway ko05323 Rheumatoid arthritis # MIM 602722 phenotype # MIM 605239 gene # Organism VPP4_HUMAN Homo sapiens (Human) # Orphanet 402041 Autosomal recessive distal renal tubular acidosis # PANTHER PTHR11629 PTHR11629 # PIRSF PIRSF001293 ATP6V0A1 # Pfam PF01496 V_ATPase_I # Proteomes UP000005640 Chromosome 7 # Reactome R-HSA-1222556 ROS, RNS production in response to bacteria # Reactome R-HSA-77387 Insulin receptor recycling # Reactome R-HSA-917977 Transferrin endocytosis and recycling # Reactome R-HSA-983712 Ion channel transport # RecName VPP4_HUMAN V-type proton ATPase 116 kDa subunit a isoform 4 # RefSeq NP_065683 NM_020632.2 # RefSeq NP_570855 NM_130840.2 # RefSeq NP_570856 NM_130841.2 # RefSeq XP_005250450 XM_005250393.1 # RefSeq XP_005250451 XM_005250394.3 # SIMILARITY Belongs to the V-ATPase 116 kDa subunit family. {ECO 0000305}. # SUBCELLULAR LOCATION VPP4_HUMAN Apical cell membrane; Multi-pass membrane protein. Note=Present at high density almost exclusively on the apical surface of alpha-intercalated cells in the cortical collecting ducts of the distal nephron. # SUBUNIT VPP4_HUMAN The V-ATPase is a heteromultimeric enzyme composed of at least thirteen different subunits. It has a membrane peripheral V1 sector for ATP hydrolysis and an integral V0 for proton translocation. The V1 sector comprises subunits A-H, whereas V0 includes subunits a, d, c, c', and c''. # TCDB 3.A.2.2 the h(+)- or na(+)-translocating f-type, v-type and a-type atpase (f-atpase) superfamily # TISSUE SPECIFICITY Expressed in adult and fetal kidney. Found in the inner ear. {ECO:0000269|PubMed 12414817}. # UCSC uc003vuf human # eggNOG COG1269 LUCA # eggNOG KOG2189 Eukaryota BLAST swissprot:VPP4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:VPP4_HUMAN BioCyc MetaCyc:ENSG00000105929-MONOMER http://biocyc.org/getid?id=MetaCyc:ENSG00000105929-MONOMER BioCyc ZFISH:ENSG00000105929-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000105929-MONOMER COG COG1269 http://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=COG1269 COXPRESdb 50617 http://coxpresdb.jp/data/gene/50617.shtml CleanEx HS_ATP6V0A4 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ATP6V0A4 DOI 10.1038/79208 http://dx.doi.org/10.1038/79208 DOI 10.1038/nature01782 http://dx.doi.org/10.1038/nature01782 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1083423 http://dx.doi.org/10.1126/science.1083423 DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 DOI 10.1136/jmg.39.11.796 http://dx.doi.org/10.1136/jmg.39.11.796 EMBL AC018663 http://www.ebi.ac.uk/ena/data/view/AC018663 EMBL AC020983 http://www.ebi.ac.uk/ena/data/view/AC020983 EMBL AF245517 http://www.ebi.ac.uk/ena/data/view/AF245517 EMBL AK292945 http://www.ebi.ac.uk/ena/data/view/AK292945 EMBL BC109304 http://www.ebi.ac.uk/ena/data/view/BC109304 EMBL BC109305 http://www.ebi.ac.uk/ena/data/view/BC109305 EMBL CH236950 http://www.ebi.ac.uk/ena/data/view/CH236950 EMBL CH471070 http://www.ebi.ac.uk/ena/data/view/CH471070 Ensembl ENST00000310018 http://www.ensembl.org/id/ENST00000310018 Ensembl ENST00000353492 http://www.ensembl.org/id/ENST00000353492 Ensembl ENST00000393054 http://www.ensembl.org/id/ENST00000393054 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000220 GO_component GO:0005765 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005765 GO_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0010008 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010008 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:0030670 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030670 GO_component GO:0031526 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031526 GO_component GO:0045177 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045177 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0046961 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046961 GO_function GO:0051117 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051117 GO_process GO:0001503 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001503 GO_process GO:0006885 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006885 GO_process GO:0007035 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007035 GO_process GO:0007588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007588 GO_process GO:0007605 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007605 GO_process GO:0008286 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008286 GO_process GO:0015986 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015986 GO_process GO:0015991 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015991 GO_process GO:0015992 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015992 GO_process GO:0033572 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033572 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0070072 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070072 GO_process GO:0090383 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090383 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards ATP6V0A4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ATP6V0A4 GeneID 50617 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=50617 GeneTree ENSGT00390000004941 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000004941 H-InvDB HIX0007123 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0007123 HGNC HGNC:866 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:866 HOGENOM HOG000037059 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000037059&db=HOGENOM6 HOVERGEN HBG014606 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG014606&db=HOVERGEN HPA HPA018029 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA018029 HPA HPA064555 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA064555 InParanoid Q9HBG4 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9HBG4 InterPro IPR002490 http://www.ebi.ac.uk/interpro/entry/IPR002490 InterPro IPR026028 http://www.ebi.ac.uk/interpro/entry/IPR026028 Jabion 50617 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=50617 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00002 http://www.genome.jp/dbget-bin/www_bget?ko00002 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Disease H00428 http://www.genome.jp/dbget-bin/www_bget?H00428 KEGG_Gene hsa:50617 http://www.genome.jp/dbget-bin/www_bget?hsa:50617 KEGG_Orthology KO:K02154 http://www.genome.jp/dbget-bin/www_bget?KO:K02154 KEGG_Pathway ko00190 http://www.genome.jp/kegg-bin/show_pathway?ko00190 KEGG_Pathway ko04142 http://www.genome.jp/kegg-bin/show_pathway?ko04142 KEGG_Pathway ko04145 http://www.genome.jp/kegg-bin/show_pathway?ko04145 KEGG_Pathway ko04721 http://www.genome.jp/kegg-bin/show_pathway?ko04721 KEGG_Pathway ko04966 http://www.genome.jp/kegg-bin/show_pathway?ko04966 KEGG_Pathway ko05110 http://www.genome.jp/kegg-bin/show_pathway?ko05110 KEGG_Pathway ko05120 http://www.genome.jp/kegg-bin/show_pathway?ko05120 KEGG_Pathway ko05152 http://www.genome.jp/kegg-bin/show_pathway?ko05152 KEGG_Pathway ko05323 http://www.genome.jp/kegg-bin/show_pathway?ko05323 MIM 602722 http://www.ncbi.nlm.nih.gov/omim/602722 MIM 605239 http://www.ncbi.nlm.nih.gov/omim/605239 OMA WTMVMNS http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=WTMVMNS Orphanet 402041 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=402041 OrthoDB EOG091G01BI http://cegg.unige.ch/orthodb/results?searchtext=EOG091G01BI PANTHER PTHR11629 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11629 PSORT swissprot:VPP4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:VPP4_HUMAN PSORT-B swissprot:VPP4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:VPP4_HUMAN PSORT2 swissprot:VPP4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:VPP4_HUMAN Pfam PF01496 http://pfam.xfam.org/family/PF01496 PharmGKB PA25147 http://www.pharmgkb.org/do/serve?objId=PA25147&objCls=Gene Phobius swissprot:VPP4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:VPP4_HUMAN PhylomeDB Q9HBG4 http://phylomedb.org/?seqid=Q9HBG4 ProteinModelPortal Q9HBG4 http://www.proteinmodelportal.org/query/uniprot/Q9HBG4 PubMed 10973252 http://www.ncbi.nlm.nih.gov/pubmed/10973252 PubMed 12414817 http://www.ncbi.nlm.nih.gov/pubmed/12414817 PubMed 12690205 http://www.ncbi.nlm.nih.gov/pubmed/12690205 PubMed 12853948 http://www.ncbi.nlm.nih.gov/pubmed/12853948 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 Reactome R-HSA-1222556 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1222556 Reactome R-HSA-77387 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-77387 Reactome R-HSA-917977 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-917977 Reactome R-HSA-983712 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-983712 RefSeq NP_065683 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_065683 RefSeq NP_570855 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_570855 RefSeq NP_570856 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_570856 RefSeq XP_005250450 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005250450 RefSeq XP_005250451 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005250451 STRING 9606.ENSP00000253856 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000253856&targetmode=cogs STRING COG1269 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=COG1269&targetmode=cogs TCDB 3.A.2.2 http://www.tcdb.org/search/result.php?tc=3.A.2.2 UCSC uc003vuf http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003vuf&org=rat UniGene Hs.98967 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.98967 UniProtKB VPP4_HUMAN http://www.uniprot.org/uniprot/VPP4_HUMAN UniProtKB-AC Q9HBG4 http://www.uniprot.org/uniprot/Q9HBG4 charge swissprot:VPP4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:VPP4_HUMAN eggNOG COG1269 http://eggnogapi.embl.de/nog_data/html/tree/COG1269 eggNOG KOG2189 http://eggnogapi.embl.de/nog_data/html/tree/KOG2189 epestfind swissprot:VPP4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:VPP4_HUMAN garnier swissprot:VPP4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:VPP4_HUMAN helixturnhelix swissprot:VPP4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:VPP4_HUMAN hmoment swissprot:VPP4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:VPP4_HUMAN iep swissprot:VPP4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:VPP4_HUMAN inforesidue swissprot:VPP4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:VPP4_HUMAN neXtProt NX_Q9HBG4 http://www.nextprot.org/db/entry/NX_Q9HBG4 octanol swissprot:VPP4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:VPP4_HUMAN pepcoil swissprot:VPP4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:VPP4_HUMAN pepdigest swissprot:VPP4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:VPP4_HUMAN pepinfo swissprot:VPP4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:VPP4_HUMAN pepnet swissprot:VPP4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:VPP4_HUMAN pepstats swissprot:VPP4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:VPP4_HUMAN pepwheel swissprot:VPP4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:VPP4_HUMAN pepwindow swissprot:VPP4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:VPP4_HUMAN sigcleave swissprot:VPP4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:VPP4_HUMAN ## Database ID URL or Descriptions # AltName KCNKF_HUMAN Acid-sensitive potassium channel protein TASK-5 # AltName KCNKF_HUMAN TWIK-related acid-sensitive K(+) channel 5 # AltName KCNKF_HUMAN Two pore potassium channel KT3.3 # ChiTaRS KCNK15 human # Ensembl ENST00000372861 ENSP00000361952; ENSG00000124249 # FUNCTION KCNKF_HUMAN Probable potassium channel subunit. No channel activity observed in heterologous systems. May need to associate with another protein to form a functional channel. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_function GO:0005267 potassium channel activity; TAS:Reactome. # GO_function GO:0022841 potassium ion leak channel activity; IBA:GO_Central. # GO_process GO:0030322 stabilization of membrane potential; IBA:GO_Central. # GO_process GO:0034765 regulation of ion transmembrane transport; IEA:UniProtKB-KW. # GO_process GO:0061337 cardiac conduction; TAS:Reactome. # GO_process GO:0071805 potassium ion transmembrane transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0008150 biological_process # GOslim_process GO:0055085 transmembrane transport # HGNC HGNC:13814 KCNK15 # InterPro IPR003092 2pore_dom_K_chnl_TASK # InterPro IPR003280 2pore_dom_K_chnl # InterPro IPR008073 TASK5 # InterPro IPR013099 K_chnl_dom # KEGG_Brite ko04040 Ion channels # MIM 607368 gene # Organism KCNKF_HUMAN Homo sapiens (Human) # PANTHER PTHR11003:SF18 PTHR11003:SF18 # PIR JC7703 JC7703 # PIRSF PIRSF038061 K_channel_subfamily_K_type # POLYMORPHISM KCNKF_HUMAN Three variant polypeptides are known TASK-5A, TASK- 5B and TASK-5C. The sequence shown is that of TASK-5C. {ECO 0000269|PubMed 11409881, ECO 0000269|PubMed 11749039, ECO 0000269|PubMed 11780052, ECO 0000269|PubMed 15489334}. # PRINTS PR01095 TASKCHANNEL # PRINTS PR01333 2POREKCHANEL # PRINTS PR01690 TASK5CHANNEL # Pfam PF07885 Ion_trans_2; 2 # Proteomes UP000005640 Chromosome 20 # Reactome R-HSA-5576886 Phase 4 - resting membrane potential # RecName KCNKF_HUMAN Potassium channel subfamily K member 15 # RefSeq NP_071753 NM_022358.3 # SIMILARITY Belongs to the two pore domain potassium channel (TC 1.A.1.8) family. {ECO 0000305}. # SUBCELLULAR LOCATION KCNKF_HUMAN Membrane; Multi-pass membrane protein. # SUBUNIT Heterodimer. {ECO 0000305}. # TCDB 1.A.1.9.12 the voltage-gated ion channel (vic) superfamily # TISSUE SPECIFICITY KCNKF_HUMAN Detected in pancreas, heart, placenta, lung, liver, kidney, ovary, testis, skeletal muscle and adrenal gland, and at lower levels in prostate, spleen and thyroid gland. {ECO 0000269|PubMed 11409881, ECO 0000269|PubMed 11680614}. # UCSC uc002xmr human # eggNOG ENOG410XRZJ LUCA # eggNOG KOG4404 Eukaryota BLAST swissprot:KCNKF_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCNKF_HUMAN BioCyc ZFISH:ENSG00000124249-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000124249-MONOMER COXPRESdb 60598 http://coxpresdb.jp/data/gene/60598.shtml CleanEx HS_KCNK15 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNK15 DOI 10.1006/bbrc.2001.5064 http://dx.doi.org/10.1006/bbrc.2001.5064 DOI 10.1006/mcne.2001.1045 http://dx.doi.org/10.1006/mcne.2001.1045 DOI 10.1007/s004240100620 http://dx.doi.org/10.1007/s004240100620 DOI 10.1038/414865a http://dx.doi.org/10.1038/414865a DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AF257081 http://www.ebi.ac.uk/ena/data/view/AF257081 EMBL AF294350 http://www.ebi.ac.uk/ena/data/view/AF294350 EMBL AF294351 http://www.ebi.ac.uk/ena/data/view/AF294351 EMBL AF294352 http://www.ebi.ac.uk/ena/data/view/AF294352 EMBL AF336342 http://www.ebi.ac.uk/ena/data/view/AF336342 EMBL AL118522 http://www.ebi.ac.uk/ena/data/view/AL118522 EMBL BC093874 http://www.ebi.ac.uk/ena/data/view/BC093874 EMBL BC143282 http://www.ebi.ac.uk/ena/data/view/BC143282 Ensembl ENST00000372861 http://www.ensembl.org/id/ENST00000372861 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0005267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005267 GO_function GO:0022841 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022841 GO_process GO:0030322 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030322 GO_process GO:0034765 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034765 GO_process GO:0061337 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061337 GO_process GO:0071805 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071805 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards KCNK15 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNK15 GeneID 60598 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=60598 H-InvDB HIX0040517 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0040517 HGNC HGNC:13814 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:13814 HOGENOM HOG000231463 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231463&db=HOGENOM6 HOVERGEN HBG052239 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052239&db=HOVERGEN HPA HPA064861 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA064861 InParanoid Q9H427 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9H427 InterPro IPR003092 http://www.ebi.ac.uk/interpro/entry/IPR003092 InterPro IPR003280 http://www.ebi.ac.uk/interpro/entry/IPR003280 InterPro IPR008073 http://www.ebi.ac.uk/interpro/entry/IPR008073 InterPro IPR013099 http://www.ebi.ac.uk/interpro/entry/IPR013099 Jabion 60598 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=60598 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:60598 http://www.genome.jp/dbget-bin/www_bget?hsa:60598 KEGG_Orthology KO:K04923 http://www.genome.jp/dbget-bin/www_bget?KO:K04923 MIM 607368 http://www.ncbi.nlm.nih.gov/omim/607368 OrthoDB EOG091G08DH http://cegg.unige.ch/orthodb/results?searchtext=EOG091G08DH PANTHER PTHR11003:SF18 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11003:SF18 PRINTS PR01095 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01095 PRINTS PR01333 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01333 PRINTS PR01690 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01690 PSORT swissprot:KCNKF_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCNKF_HUMAN PSORT-B swissprot:KCNKF_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCNKF_HUMAN PSORT2 swissprot:KCNKF_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCNKF_HUMAN Pfam PF07885 http://pfam.xfam.org/family/PF07885 PharmGKB PA30056 http://www.pharmgkb.org/do/serve?objId=PA30056&objCls=Gene Phobius swissprot:KCNKF_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCNKF_HUMAN PhylomeDB Q9H427 http://phylomedb.org/?seqid=Q9H427 ProteinModelPortal Q9H427 http://www.proteinmodelportal.org/query/uniprot/Q9H427 PubMed 11409881 http://www.ncbi.nlm.nih.gov/pubmed/11409881 PubMed 11431495 http://www.ncbi.nlm.nih.gov/pubmed/11431495 PubMed 11680614 http://www.ncbi.nlm.nih.gov/pubmed/11680614 PubMed 11749039 http://www.ncbi.nlm.nih.gov/pubmed/11749039 PubMed 11780052 http://www.ncbi.nlm.nih.gov/pubmed/11780052 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 Reactome R-HSA-5576886 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576886 RefSeq NP_071753 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_071753 SMR Q9H427 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9H427 STRING 9606.ENSP00000361952 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000361952&targetmode=cogs TCDB 1.A.1.9.12 http://www.tcdb.org/search/result.php?tc=1.A.1.9.12 UCSC uc002xmr http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002xmr&org=rat UniGene Hs.528664 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.528664 UniProtKB KCNKF_HUMAN http://www.uniprot.org/uniprot/KCNKF_HUMAN UniProtKB-AC Q9H427 http://www.uniprot.org/uniprot/Q9H427 charge swissprot:KCNKF_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCNKF_HUMAN eggNOG ENOG410XRZJ http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XRZJ eggNOG KOG4404 http://eggnogapi.embl.de/nog_data/html/tree/KOG4404 epestfind swissprot:KCNKF_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCNKF_HUMAN garnier swissprot:KCNKF_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCNKF_HUMAN helixturnhelix swissprot:KCNKF_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCNKF_HUMAN hmoment swissprot:KCNKF_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCNKF_HUMAN iep swissprot:KCNKF_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCNKF_HUMAN inforesidue swissprot:KCNKF_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCNKF_HUMAN neXtProt NX_Q9H427 http://www.nextprot.org/db/entry/NX_Q9H427 octanol swissprot:KCNKF_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCNKF_HUMAN pepcoil swissprot:KCNKF_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCNKF_HUMAN pepdigest swissprot:KCNKF_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCNKF_HUMAN pepinfo swissprot:KCNKF_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCNKF_HUMAN pepnet swissprot:KCNKF_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCNKF_HUMAN pepstats swissprot:KCNKF_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCNKF_HUMAN pepwheel swissprot:KCNKF_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCNKF_HUMAN pepwindow swissprot:KCNKF_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCNKF_HUMAN sigcleave swissprot:KCNKF_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCNKF_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S39AE_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q15043-1; Sequence=Displayed; Name=2; IsoId=Q15043-2; Sequence=VSP_029728; Note=No experimental confirmation available.; Name=3; IsoId=Q15043-3; Sequence=VSP_040139; # AltName S39AE_HUMAN LIV-1 subfamily of ZIP zinc transporter 4 # AltName S39AE_HUMAN Solute carrier family 39 member 14 # AltName S39AE_HUMAN Zrt- and Irt-like protein 14 # BioGrid 117063 5 # CCDS CCDS47822 -. [Q15043-2] # CCDS CCDS47823 -. [Q15043-1] # CCDS CCDS6030 -. [Q15043-3] # ChiTaRS SLC39A14 human # Ensembl ENST00000240095 ENSP00000240095; ENSG00000104635. [Q15043-2] # Ensembl ENST00000289952 ENSP00000289952; ENSG00000104635. [Q15043-1] # Ensembl ENST00000359741 ENSP00000352779; ENSG00000104635. [Q15043-3] # Ensembl ENST00000381237 ENSP00000370635; ENSG00000104635. [Q15043-1] # ExpressionAtlas Q15043 baseline and differential # FUNCTION S39AE_HUMAN May mediate cellular uptake of nontransferrin-bound iron (By similarity). Broad-scope metal ion transporter with a preference for zinc uptake. {ECO 0000250, ECO 0000269|PubMed 15642354}. # GO_component GO:0005783 endoplasmic reticulum; IDA:HPA. # GO_component GO:0005794 Golgi apparatus; IDA:HPA. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0005887 integral component of plasma membrane; IDA:BHF-UCL. # GO_component GO:0016021 integral component of membrane; IDA:BHF-UCL. # GO_component GO:0030027 lamellipodium; IEA:UniProtKB-SubCell. # GO_function GO:0005385 zinc ion transmembrane transporter activity; IDA:BHF-UCL. # GO_function GO:0015093 ferrous iron transmembrane transporter activity; IEA:Ensembl. # GO_process GO:0006882 cellular zinc ion homeostasis; IDA:BHF-UCL. # GO_process GO:0071577 zinc II ion transmembrane transport; IMP:UniProtKB. # GO_process GO:0071578 zinc II ion transmembrane import; IDA:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_component GO:0005794 Golgi apparatus # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Genevisible Q15043 HS # HGNC HGNC:20858 SLC39A14 # IntAct Q15043 6 # InterPro IPR003689 ZIP # KEGG_Brite ko02001 Solute carrier family # MIM 608736 gene # Organism S39AE_HUMAN Homo sapiens (Human) # Pfam PF02535 Zip # Proteomes UP000005640 Chromosome 8 # Reactome R-HSA-442380 Zinc influx into cells by the SLC39 gene family # RecName S39AE_HUMAN Zinc transporter ZIP14 # RefSeq NP_001121903 NM_001128431.2. [Q15043-1] # RefSeq NP_001128625 NM_001135153.1. [Q15043-1] # RefSeq NP_001128626 NM_001135154.1. [Q15043-2] # RefSeq NP_056174 NM_015359.4. [Q15043-3] # RefSeq XP_005273522 XM_005273465.2. [Q15043-1] # RefSeq XP_005273523 XM_005273466.4. [Q15043-1] # RefSeq XP_006716387 XM_006716324.2. [Q15043-1] # RefSeq XP_011542780 XM_011544478.2. [Q15043-1] # RefSeq XP_016868783 XM_017013294.1. [Q15043-1] # RefSeq XP_016868784 XM_017013295.1. [Q15043-1] # SEQUENCE CAUTION Sequence=BAA06685.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the ZIP transporter (TC 2.A.5) family. {ECO 0000305}. # SUBCELLULAR LOCATION S39AE_HUMAN Cell membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. Cell projection, lamellipodium {ECO 0000269|PubMed 12659941, ECO 0000269|PubMed 15642354}. Note=Localized to the plasma membrane and also found colocalized with F-actin concentrated on lamellipodiae. # SUBUNIT Homotrimer. {ECO:0000269|PubMed 12659941}. # TCDB 2.A.5.4 the zinc (zn(2+))-iron (fe(2+)) permease (zip) family # TISSUE SPECIFICITY S39AE_HUMAN Ubiquitously expressed, with increased expression in liver, pancreas, fetal liver, thyroid gland, left and right ventricle, right atrium and fetal heart. Weakly expressed in spleen, thymus, and peripheral blood leukocytes. {ECO 0000269|PubMed 15642354, ECO 0000269|PubMed 7584044}. # UCSC uc003xbp human. [Q15043-1] # eggNOG COG0428 LUCA # eggNOG KOG2693 Eukaryota BLAST swissprot:S39AE_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S39AE_HUMAN BioCyc ZFISH:ENSG00000104635-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000104635-MONOMER COXPRESdb 23516 http://coxpresdb.jp/data/gene/23516.shtml CleanEx HS_SLC39A14 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC39A14 DOI 10.1016/S0005-2736(03)00048-8 http://dx.doi.org/10.1016/S0005-2736(03)00048-8 DOI 10.1016/j.febslet.2004.12.006 http://dx.doi.org/10.1016/j.febslet.2004.12.006 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/pr8008012 http://dx.doi.org/10.1021/pr8008012 DOI 10.1038/nature04406 http://dx.doi.org/10.1038/nature04406 DOI 10.1038/nbt.1532 http://dx.doi.org/10.1038/nbt.1532 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1093/dnares/1.5.223 http://dx.doi.org/10.1093/dnares/1.5.223 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AC087854 http://www.ebi.ac.uk/ena/data/view/AC087854 EMBL AC105910 http://www.ebi.ac.uk/ena/data/view/AC105910 EMBL AK172810 http://www.ebi.ac.uk/ena/data/view/AK172810 EMBL AK295807 http://www.ebi.ac.uk/ena/data/view/AK295807 EMBL BC015770 http://www.ebi.ac.uk/ena/data/view/BC015770 EMBL CH471080 http://www.ebi.ac.uk/ena/data/view/CH471080 EMBL CH471080 http://www.ebi.ac.uk/ena/data/view/CH471080 EMBL CH471080 http://www.ebi.ac.uk/ena/data/view/CH471080 EMBL D31887 http://www.ebi.ac.uk/ena/data/view/D31887 Ensembl ENST00000240095 http://www.ensembl.org/id/ENST00000240095 Ensembl ENST00000289952 http://www.ensembl.org/id/ENST00000289952 Ensembl ENST00000359741 http://www.ensembl.org/id/ENST00000359741 Ensembl ENST00000381237 http://www.ensembl.org/id/ENST00000381237 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GO_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0030027 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030027 GO_function GO:0005385 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005385 GO_function GO:0015093 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015093 GO_process GO:0006882 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006882 GO_process GO:0071577 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071577 GO_process GO:0071578 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071578 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC39A14 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC39A14 GeneID 23516 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=23516 GeneTree ENSGT00760000119115 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119115 HGNC HGNC:20858 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:20858 HOGENOM HOG000070225 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000070225&db=HOGENOM6 HOVERGEN HBG108450 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG108450&db=HOVERGEN HPA HPA016508 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA016508 InParanoid Q15043 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q15043 IntAct Q15043 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q15043* InterPro IPR003689 http://www.ebi.ac.uk/interpro/entry/IPR003689 Jabion 23516 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=23516 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:23516 http://www.genome.jp/dbget-bin/www_bget?hsa:23516 KEGG_Orthology KO:K14720 http://www.genome.jp/dbget-bin/www_bget?KO:K14720 MIM 608736 http://www.ncbi.nlm.nih.gov/omim/608736 MINT MINT-5004639 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-5004639 OMA CCCYLGM http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=CCCYLGM OrthoDB EOG091G064Y http://cegg.unige.ch/orthodb/results?searchtext=EOG091G064Y PSORT swissprot:S39AE_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S39AE_HUMAN PSORT-B swissprot:S39AE_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S39AE_HUMAN PSORT2 swissprot:S39AE_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S39AE_HUMAN Pfam PF02535 http://pfam.xfam.org/family/PF02535 PharmGKB PA134863701 http://www.pharmgkb.org/do/serve?objId=PA134863701&objCls=Gene Phobius swissprot:S39AE_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S39AE_HUMAN PhylomeDB Q15043 http://phylomedb.org/?seqid=Q15043 ProteinModelPortal Q15043 http://www.proteinmodelportal.org/query/uniprot/Q15043 PubMed 12659941 http://www.ncbi.nlm.nih.gov/pubmed/12659941 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15642354 http://www.ncbi.nlm.nih.gov/pubmed/15642354 PubMed 16421571 http://www.ncbi.nlm.nih.gov/pubmed/16421571 PubMed 19159218 http://www.ncbi.nlm.nih.gov/pubmed/19159218 PubMed 19349973 http://www.ncbi.nlm.nih.gov/pubmed/19349973 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 7584044 http://www.ncbi.nlm.nih.gov/pubmed/7584044 Reactome R-HSA-442380 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-442380 RefSeq NP_001121903 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001121903 RefSeq NP_001128625 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001128625 RefSeq NP_001128626 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001128626 RefSeq NP_056174 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_056174 RefSeq XP_005273522 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005273522 RefSeq XP_005273523 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005273523 RefSeq XP_006716387 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006716387 RefSeq XP_011542780 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011542780 RefSeq XP_016868783 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016868783 RefSeq XP_016868784 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016868784 SMR Q15043 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q15043 STRING 9606.ENSP00000289952 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000289952&targetmode=cogs TCDB 2.A.5.4 http://www.tcdb.org/search/result.php?tc=2.A.5.4 UCSC uc003xbp http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003xbp&org=rat UniGene Hs.491232 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.491232 UniProtKB S39AE_HUMAN http://www.uniprot.org/uniprot/S39AE_HUMAN UniProtKB-AC Q15043 http://www.uniprot.org/uniprot/Q15043 charge swissprot:S39AE_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S39AE_HUMAN eggNOG COG0428 http://eggnogapi.embl.de/nog_data/html/tree/COG0428 eggNOG KOG2693 http://eggnogapi.embl.de/nog_data/html/tree/KOG2693 epestfind swissprot:S39AE_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S39AE_HUMAN garnier swissprot:S39AE_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S39AE_HUMAN helixturnhelix swissprot:S39AE_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S39AE_HUMAN hmoment swissprot:S39AE_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S39AE_HUMAN iep swissprot:S39AE_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S39AE_HUMAN inforesidue swissprot:S39AE_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S39AE_HUMAN neXtProt NX_Q15043 http://www.nextprot.org/db/entry/NX_Q15043 octanol swissprot:S39AE_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S39AE_HUMAN pepcoil swissprot:S39AE_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S39AE_HUMAN pepdigest swissprot:S39AE_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S39AE_HUMAN pepinfo swissprot:S39AE_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S39AE_HUMAN pepnet swissprot:S39AE_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S39AE_HUMAN pepstats swissprot:S39AE_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S39AE_HUMAN pepwheel swissprot:S39AE_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S39AE_HUMAN pepwindow swissprot:S39AE_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S39AE_HUMAN sigcleave swissprot:S39AE_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S39AE_HUMAN ## Database ID URL or Descriptions # AltName ADT1_HUMAN ADP,ATP carrier protein 1 # AltName ADT1_HUMAN ADP,ATP carrier protein, heart/skeletal muscle isoform T1 # AltName ADT1_HUMAN Adenine nucleotide translocator 1 # AltName ADT1_HUMAN Solute carrier family 25 member 4 # BioGrid 106788 42 # ChiTaRS SLC25A4 human # DISEASE ADT1_HUMAN Mitochondrial DNA depletion syndrome 12, cardiomyopathic type (MTDPS12) [MIM 615418] An autosomal recessive mitochondrial disorder characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance and, in some patients, muscle weakness and atrophy. Skeletal muscle biopsy shows ragged red fibers, mtDNA depletion, and accumulation of abnormal mitochondria. {ECO 0000269|PubMed 22187496}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE ADT1_HUMAN Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2 (PEOA2) [MIM 609283] A disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. In a minority of cases, it is associated with skeletal myopathy, which predominantly involves axial or proximal muscles and which causes abnormal fatigability and even permanent muscle weakness. Ragged-red fibers and atrophy are found on muscle biopsy. A large proportion of chronic ophthalmoplegias are associated with other symptoms, leading to a multisystemic pattern of this disease. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. {ECO 0000269|PubMed 10926541, ECO 0000269|PubMed 11756613, ECO 0000269|PubMed 12112115, ECO 0000269|PubMed 15792871, ECO 0000269|PubMed 18575922}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DrugBank DB00171 Adenosine triphosphate # DrugBank DB00720 Clodronate # Ensembl ENST00000281456 ENSP00000281456; ENSG00000151729 # ExpressionAtlas P12235 baseline and differential # FUNCTION ADT1_HUMAN Catalyzes the exchange of cytoplasmic ADP with mitochondrial ATP across the mitochondrial inner membrane. # GO_component GO:0005634 nucleus; IDA:UniProtKB. # GO_component GO:0005739 mitochondrion; IDA:UniProtKB. # GO_component GO:0005743 mitochondrial inner membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0043209 myelin sheath; IEA:Ensembl. # GO_function GO:0015207 adenine transmembrane transporter activity; TAS:ProtInc. # GO_process GO:0000002 mitochondrial genome maintenance; TAS:ProtInc. # GO_process GO:0006091 generation of precursor metabolites and energy; TAS:ProtInc. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0008637 apoptotic mitochondrial changes; IEA:Ensembl. # GO_process GO:0016032 viral process; IEA:UniProtKB-KW. # GO_process GO:0050796 regulation of insulin secretion; TAS:Reactome. # GO_process GO:0060546 negative regulation of necroptotic process; IMP:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005739 mitochondrion # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006091 generation of precursor metabolites and energy # GOslim_process GO:0006810 transport # GOslim_process GO:0007005 mitochondrion organization # GOslim_process GO:0008150 biological_process # GOslim_process GO:0044403 symbiosis, encompassing mutualism through parasitism # Gene3D 1.50.40.10 -; 1. # Genevisible P12235 HS # HGNC HGNC:10990 SLC25A4 # INTERACTION ADT1_HUMAN Q5S007 LRRK2; NbExp=2; IntAct=EBI-359074, EBI-5323863; # IntAct P12235 20 # InterPro IPR002067 Mit_carrier # InterPro IPR002113 Aden_trnslctor # InterPro IPR018108 Mitochondrial_sb/sol_carrier # InterPro IPR023395 Mt_carrier_dom # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02001 Solute carrier family # KEGG_Disease H00469 [Inherited metabolic disease; Mitochondrial disease] Mitochondrial DNA depletion syndrome (MDS) # KEGG_Disease H01118 [Nervous system disease; Musculoskeletal disease; Eye disease; Inherited metabolic disease] Progressive external ophthalmoplegia (PEO) # KEGG_Pathway ko04020 Calcium signaling pathway # KEGG_Pathway ko05012 Parkinson's disease # KEGG_Pathway ko05016 Huntington's disease # KEGG_Pathway ko05166 HTLV-I infection # MIM 103220 gene # MIM 609283 phenotype # MIM 615418 phenotype # MISCELLANEOUS The transmembrane helices are not perpendicular to the plane of the membrane, but cross the membrane at an angle. Odd-numbered transmembrane helices exhibit a sharp kink, due to the presence of a conserved proline residue (By similarity). {ECO 0000250}. # Organism ADT1_HUMAN Homo sapiens (Human) # Orphanet 1369 Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy # Orphanet 155 Familial isolated hypertrophic cardiomyopathy # Orphanet 254892 Autosomal dominant progressive external ophthalmoplegia # PIR A44778 A44778 # PRINTS PR00926 MITOCARRIER # PRINTS PR00927 ADPTRNSLCASE # PROSITE PS50920 SOLCAR; 3 # Pfam PF00153 Mito_carr; 3 # Proteomes UP000005640 Chromosome 4 # Reactome R-HSA-1268020 Mitochondrial protein import # Reactome R-HSA-180897 Vpr-mediated induction of apoptosis by mitochondrial outer membrane permeabilization # Reactome R-HSA-422356 Regulation of insulin secretion # RecName ADT1_HUMAN ADP/ATP translocase 1 # RefSeq NP_001142 NM_001151.3 # SIMILARITY Belongs to the mitochondrial carrier (TC 2.A.29) family. {ECO 0000305}. # SIMILARITY Contains 3 Solcar repeats. {ECO:0000255|PROSITE- ProRule PRU00282}. # SUBCELLULAR LOCATION ADT1_HUMAN Mitochondrion inner membrane; Multi-pass membrane protein. # SUBUNIT Found in a complex with ARL2, ARL2BP and SLC25A4. Interacts with ARL2BP (By similarity). Homodimer. Interacts with HIV-1 Vpr. {ECO:0000250, ECO 0000269|PubMed:16120388}. # SUPFAM SSF103506 SSF103506 # TCDB 2.A.29.1 the mitochondrial carrier (mc) family # UCSC uc003ixd human # eggNOG ENOG410XNW0 LUCA # eggNOG KOG0749 Eukaryota BLAST swissprot:ADT1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ADT1_HUMAN BioCyc ZFISH:ENSG00000151729-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000151729-MONOMER COXPRESdb 291 http://coxpresdb.jp/data/gene/291.shtml CleanEx HS_SLC25A4 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC25A4 DIP DIP-33116N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-33116N DOI 10.1002/ana.10172 http://dx.doi.org/10.1002/ana.10172 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1007/s00415-008-0926-3 http://dx.doi.org/10.1007/s00415-008-0926-3 DOI 10.1016/0022-2836(89)90477-4 http://dx.doi.org/10.1016/0022-2836(89)90477-4 DOI 10.1016/j.mito.2004.06.012 http://dx.doi.org/10.1016/j.mito.2004.06.012 DOI 10.1016/j.nmd.2004.12.004 http://dx.doi.org/10.1016/j.nmd.2004.12.004 DOI 10.1073/pnas.84.21.7580 http://dx.doi.org/10.1073/pnas.84.21.7580 DOI 10.1073/pnas.85.2.377 http://dx.doi.org/10.1073/pnas.85.2.377 DOI 10.1093/hmg/ddi341 http://dx.doi.org/10.1093/hmg/ddi341 DOI 10.1093/nar/gkq750 http://dx.doi.org/10.1093/nar/gkq750 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1175371 http://dx.doi.org/10.1126/science.1175371 DOI 10.1126/science.289.5480.782 http://dx.doi.org/10.1126/science.289.5480.782 DOI 10.1136/jmedgenet-2011-100504 http://dx.doi.org/10.1136/jmedgenet-2011-100504 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DOI 10.1212/01.WNL.0000056088.09408.3C http://dx.doi.org/10.1212/01.WNL.0000056088.09408.3C DOI 10.1212/WNL.57.12.2295 http://dx.doi.org/10.1212/WNL.57.12.2295 DrugBank DB00171 http://www.drugbank.ca/drugs/DB00171 DrugBank DB00720 http://www.drugbank.ca/drugs/DB00720 EMBL BC008664 http://www.ebi.ac.uk/ena/data/view/BC008664 EMBL BC061589 http://www.ebi.ac.uk/ena/data/view/BC061589 EMBL BC063643 http://www.ebi.ac.uk/ena/data/view/BC063643 EMBL CH471056 http://www.ebi.ac.uk/ena/data/view/CH471056 EMBL CH471056 http://www.ebi.ac.uk/ena/data/view/CH471056 EMBL HQ206346 http://www.ebi.ac.uk/ena/data/view/HQ206346 EMBL HQ206347 http://www.ebi.ac.uk/ena/data/view/HQ206347 EMBL HQ206348 http://www.ebi.ac.uk/ena/data/view/HQ206348 EMBL HQ206349 http://www.ebi.ac.uk/ena/data/view/HQ206349 EMBL HQ206350 http://www.ebi.ac.uk/ena/data/view/HQ206350 EMBL HQ206351 http://www.ebi.ac.uk/ena/data/view/HQ206351 EMBL HQ206352 http://www.ebi.ac.uk/ena/data/view/HQ206352 EMBL HQ206353 http://www.ebi.ac.uk/ena/data/view/HQ206353 EMBL HQ206354 http://www.ebi.ac.uk/ena/data/view/HQ206354 EMBL HQ206355 http://www.ebi.ac.uk/ena/data/view/HQ206355 EMBL HQ206356 http://www.ebi.ac.uk/ena/data/view/HQ206356 EMBL HQ206357 http://www.ebi.ac.uk/ena/data/view/HQ206357 EMBL HQ206358 http://www.ebi.ac.uk/ena/data/view/HQ206358 EMBL HQ206359 http://www.ebi.ac.uk/ena/data/view/HQ206359 EMBL HQ206360 http://www.ebi.ac.uk/ena/data/view/HQ206360 EMBL HQ206361 http://www.ebi.ac.uk/ena/data/view/HQ206361 EMBL HQ206362 http://www.ebi.ac.uk/ena/data/view/HQ206362 EMBL HQ206363 http://www.ebi.ac.uk/ena/data/view/HQ206363 EMBL HQ206364 http://www.ebi.ac.uk/ena/data/view/HQ206364 EMBL HQ206365 http://www.ebi.ac.uk/ena/data/view/HQ206365 EMBL HQ206366 http://www.ebi.ac.uk/ena/data/view/HQ206366 EMBL HQ206367 http://www.ebi.ac.uk/ena/data/view/HQ206367 EMBL HQ206368 http://www.ebi.ac.uk/ena/data/view/HQ206368 EMBL HQ206369 http://www.ebi.ac.uk/ena/data/view/HQ206369 EMBL HQ206370 http://www.ebi.ac.uk/ena/data/view/HQ206370 EMBL HQ206371 http://www.ebi.ac.uk/ena/data/view/HQ206371 EMBL HQ206372 http://www.ebi.ac.uk/ena/data/view/HQ206372 EMBL HQ206373 http://www.ebi.ac.uk/ena/data/view/HQ206373 EMBL HQ206374 http://www.ebi.ac.uk/ena/data/view/HQ206374 EMBL HQ206375 http://www.ebi.ac.uk/ena/data/view/HQ206375 EMBL HQ206376 http://www.ebi.ac.uk/ena/data/view/HQ206376 EMBL HQ206377 http://www.ebi.ac.uk/ena/data/view/HQ206377 EMBL HQ206378 http://www.ebi.ac.uk/ena/data/view/HQ206378 EMBL HQ206379 http://www.ebi.ac.uk/ena/data/view/HQ206379 EMBL HQ206380 http://www.ebi.ac.uk/ena/data/view/HQ206380 EMBL HQ206381 http://www.ebi.ac.uk/ena/data/view/HQ206381 EMBL HQ206382 http://www.ebi.ac.uk/ena/data/view/HQ206382 EMBL HQ206383 http://www.ebi.ac.uk/ena/data/view/HQ206383 EMBL HQ206384 http://www.ebi.ac.uk/ena/data/view/HQ206384 EMBL HQ206385 http://www.ebi.ac.uk/ena/data/view/HQ206385 EMBL J02966 http://www.ebi.ac.uk/ena/data/view/J02966 EMBL J03593 http://www.ebi.ac.uk/ena/data/view/J03593 EMBL J04982 http://www.ebi.ac.uk/ena/data/view/J04982 Ensembl ENST00000281456 http://www.ensembl.org/id/ENST00000281456 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0043209 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043209 GO_function GO:0015207 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015207 GO_process GO:0000002 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000002 GO_process GO:0006091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006091 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0008637 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008637 GO_process GO:0016032 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016032 GO_process GO:0050796 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050796 GO_process GO:0060546 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060546 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006091 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007005 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007005 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0044403 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044403 Gene3D 1.50.40.10 http://www.cathdb.info/version/latest/superfamily/1.50.40.10 GeneCards SLC25A4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC25A4 GeneID 291 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=291 GeneTree ENSGT00390000011543 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000011543 HGNC HGNC:10990 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10990 HOGENOM HOG000165727 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000165727&db=HOGENOM6 HOVERGEN HBG108348 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG108348&db=HOVERGEN HPA HPA060665 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA060665 InParanoid P12235 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P12235 IntAct P12235 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P12235* InterPro IPR002067 http://www.ebi.ac.uk/interpro/entry/IPR002067 InterPro IPR002113 http://www.ebi.ac.uk/interpro/entry/IPR002113 InterPro IPR018108 http://www.ebi.ac.uk/interpro/entry/IPR018108 InterPro IPR023395 http://www.ebi.ac.uk/interpro/entry/IPR023395 Jabion 291 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=291 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Disease H00469 http://www.genome.jp/dbget-bin/www_bget?H00469 KEGG_Disease H01118 http://www.genome.jp/dbget-bin/www_bget?H01118 KEGG_Gene hsa:291 http://www.genome.jp/dbget-bin/www_bget?hsa:291 KEGG_Orthology KO:K05863 http://www.genome.jp/dbget-bin/www_bget?KO:K05863 KEGG_Pathway ko04020 http://www.genome.jp/kegg-bin/show_pathway?ko04020 KEGG_Pathway ko05012 http://www.genome.jp/kegg-bin/show_pathway?ko05012 KEGG_Pathway ko05016 http://www.genome.jp/kegg-bin/show_pathway?ko05016 KEGG_Pathway ko05166 http://www.genome.jp/kegg-bin/show_pathway?ko05166 MIM 103220 http://www.ncbi.nlm.nih.gov/omim/103220 MIM 609283 http://www.ncbi.nlm.nih.gov/omim/609283 MIM 615418 http://www.ncbi.nlm.nih.gov/omim/615418 MINT MINT-196037 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-196037 OMA GSSQREF http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=GSSQREF Orphanet 1369 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1369 Orphanet 155 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=155 Orphanet 254892 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=254892 OrthoDB EOG091G0ULB http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0ULB PRINTS PR00926 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00926 PRINTS PR00927 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00927 PROSITE PS50920 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50920 PSORT swissprot:ADT1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ADT1_HUMAN PSORT-B swissprot:ADT1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ADT1_HUMAN PSORT2 swissprot:ADT1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ADT1_HUMAN Pfam PF00153 http://pfam.xfam.org/family/PF00153 PharmGKB PA35866 http://www.pharmgkb.org/do/serve?objId=PA35866&objCls=Gene Phobius swissprot:ADT1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ADT1_HUMAN PhylomeDB P12235 http://phylomedb.org/?seqid=P12235 ProteinModelPortal P12235 http://www.proteinmodelportal.org/query/uniprot/P12235 PubMed 10926541 http://www.ncbi.nlm.nih.gov/pubmed/10926541 PubMed 11756613 http://www.ncbi.nlm.nih.gov/pubmed/11756613 PubMed 12112115 http://www.ncbi.nlm.nih.gov/pubmed/12112115 PubMed 12707443 http://www.ncbi.nlm.nih.gov/pubmed/12707443 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15792871 http://www.ncbi.nlm.nih.gov/pubmed/15792871 PubMed 16120388 http://www.ncbi.nlm.nih.gov/pubmed/16120388 PubMed 16155110 http://www.ncbi.nlm.nih.gov/pubmed/16155110 PubMed 18575922 http://www.ncbi.nlm.nih.gov/pubmed/18575922 PubMed 19608861 http://www.ncbi.nlm.nih.gov/pubmed/19608861 PubMed 20843780 http://www.ncbi.nlm.nih.gov/pubmed/20843780 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 22187496 http://www.ncbi.nlm.nih.gov/pubmed/22187496 PubMed 2541251 http://www.ncbi.nlm.nih.gov/pubmed/2541251 PubMed 2547778 http://www.ncbi.nlm.nih.gov/pubmed/2547778 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 2823266 http://www.ncbi.nlm.nih.gov/pubmed/2823266 PubMed 2829183 http://www.ncbi.nlm.nih.gov/pubmed/2829183 Reactome R-HSA-1268020 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1268020 Reactome R-HSA-180897 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-180897 Reactome R-HSA-422356 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-422356 RefSeq NP_001142 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001142 SMR P12235 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P12235 STRING 9606.ENSP00000281456 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000281456&targetmode=cogs SUPFAM SSF103506 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103506 TCDB 2.A.29.1 http://www.tcdb.org/search/result.php?tc=2.A.29.1 UCSC uc003ixd http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003ixd&org=rat UniGene Hs.246506 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.246506 UniProtKB ADT1_HUMAN http://www.uniprot.org/uniprot/ADT1_HUMAN UniProtKB-AC P12235 http://www.uniprot.org/uniprot/P12235 charge swissprot:ADT1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ADT1_HUMAN eggNOG ENOG410XNW0 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XNW0 eggNOG KOG0749 http://eggnogapi.embl.de/nog_data/html/tree/KOG0749 epestfind swissprot:ADT1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ADT1_HUMAN garnier swissprot:ADT1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ADT1_HUMAN helixturnhelix swissprot:ADT1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ADT1_HUMAN hmoment swissprot:ADT1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ADT1_HUMAN iep swissprot:ADT1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ADT1_HUMAN inforesidue swissprot:ADT1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ADT1_HUMAN neXtProt NX_P12235 http://www.nextprot.org/db/entry/NX_P12235 octanol swissprot:ADT1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ADT1_HUMAN pepcoil swissprot:ADT1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ADT1_HUMAN pepdigest swissprot:ADT1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ADT1_HUMAN pepinfo swissprot:ADT1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ADT1_HUMAN pepnet swissprot:ADT1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ADT1_HUMAN pepstats swissprot:ADT1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ADT1_HUMAN pepwheel swissprot:ADT1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ADT1_HUMAN pepwindow swissprot:ADT1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ADT1_HUMAN sigcleave swissprot:ADT1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ADT1_HUMAN ## Database ID URL or Descriptions # AltName S2533_HUMAN Bone marrow stromal cell mitochondrial carrier protein # AltName S2533_HUMAN Protein PNC1 # BIOPHYSICOCHEMICAL PROPERTIES S2533_HUMAN Kinetic parameters KM=0.16 mM for UTP (at 25 degrees Celsius) {ECO 0000269|PubMed 25320081}; KM=0.18 mM for CTP (at 25 degrees Celsius) {ECO 0000269|PubMed 25320081}; KM=0.08 mM for TTP (at 25 degrees Celsius) {ECO 0000269|PubMed 25320081}; KM=0.30 mM for GTP (at 25 degrees Celsius) {ECO 0000269|PubMed 25320081}; Vmax=98.5 umol/min/g enzyme toward UTP (at 25 degrees Celsius) {ECO 0000269|PubMed 25320081}; Vmax=22.5 umol/min/g enzyme toward CTP (at 25 degrees Celsius) {ECO 0000269|PubMed 25320081}; Vmax=50.8 umol/min/g enzyme toward TTP (at 25 degrees Celsius) {ECO 0000269|PubMed 25320081}; Vmax=15.7 umol/min/g enzyme toward GTP (at 25 degrees Celsius) {ECO 0000269|PubMed 25320081}; Note=The inhibitory constants (Ki) of these compounds are 174 um (UTP), 195 um (CTP), 318 um (GTP), and 333 um (ITP). UTP is the best substrate. {ECO 0000269|PubMed 25320081}; # BioGrid 124002 3 # ChiTaRS SLC25A33 human # Ensembl ENST00000302692 ENSP00000306328; ENSG00000171612 # FUNCTION S2533_HUMAN Mitochondrial transporter that imports/exports pyrimidine nucleotides into and from mitochondria (PubMed 25320081). Transports preferentially uracil, thymine, and cytosine (deoxy)nucleoside di- and triphosphates by an antiport mechanism (PubMed 25320081). Also transports guanine but not adenine (deoxy)nucleotides (PubMed 25320081). Is inhibited strongly by pyridoxal 5'-phosphate, 4,7-diphenyl-1,10- phenanthroline, tannic acid, and mercurials (mercury dichloride, mersalyl acid, p-hydroxymercuribenzoate) (PubMed 25320081). Participates in mitochondrial genome maintenance, regulation of mitochondrial membrane potential and mitochondrial respiration (PubMed 20453889). Upon INS or IGF1 stimulation regulates cell growth and proliferation by controlling mitochondrial DNA replication and transcription, the ratio of mitochondria-to nuclear-encoded components of the electron transport chain resulting in control of mitochondrial ROS production (PubMed 20453889, PubMed 17596519). Participates in dendritic cell endocytosis and may associate with mitochondrial oxidative phosphorylation (PubMed 14715278). {ECO 0000269|PubMed 14715278, ECO 0000269|PubMed 17596519, ECO 0000269|PubMed 20453889, ECO 0000269|PubMed 25320081}. # GO_component GO:0005743 mitochondrial inner membrane; IEA:UniProtKB-SubCell. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0031966 mitochondrial membrane; ISS:UniProtKB. # GO_function GO:0015218 pyrimidine nucleotide transmembrane transporter activity; IDA:UniProtKB. # GO_process GO:0000002 mitochondrial genome maintenance; IDA:UniProtKB. # GO_process GO:0002082 regulation of oxidative phosphorylation; IMP:UniProtKB. # GO_process GO:0006264 mitochondrial DNA replication; IMP:UniProtKB. # GO_process GO:0006390 transcription from mitochondrial promoter; IMP:UniProtKB. # GO_process GO:0006864 pyrimidine nucleotide transport; IDA:UniProtKB. # GO_process GO:0007005 mitochondrion organization; IDA:UniProtKB. # GO_process GO:0008284 positive regulation of cell proliferation; IMP:UniProtKB. # GO_process GO:0030307 positive regulation of cell growth; IMP:UniProtKB. # GO_process GO:0031930 mitochondria-nucleus signaling pathway; ISS:UniProtKB. # GO_process GO:0032869 cellular response to insulin stimulus; IDA:UniProtKB. # GO_process GO:0034551 mitochondrial respiratory chain complex III assembly; IMP:UniProtKB. # GO_process GO:0051881 regulation of mitochondrial membrane potential; IDA:UniProtKB. # GO_process GO:0071156 regulation of cell cycle arrest; IMP:UniProtKB. # GO_process GO:1903426 regulation of reactive oxygen species biosynthetic process; IMP:UniProtKB. # GO_process GO:1990314 cellular response to insulin-like growth factor stimulus; IDA:UniProtKB. # GO_process GO:1990519 mitochondrial pyrimidine nucleotide import; IMP:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006259 DNA metabolic process # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # GOslim_process GO:0007005 mitochondrion organization # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.50.40.10 -; 1. # Genevisible Q9BSK2 HS # HGNC HGNC:29681 SLC25A33 # INDUCTION By INS or IGF1 through the PI-3 kinase/mTOR pathway. {ECO:0000269|PubMed 17596519}. # IntAct Q9BSK2 2 # InterPro IPR018108 Mitochondrial_sb/sol_carrier # InterPro IPR023395 Mt_carrier_dom # KEGG_Brite ko02001 Solute carrier family # MIM 610816 gene # Organism S2533_HUMAN Homo sapiens (Human) # PROSITE PS50920 SOLCAR; 3 # Pfam PF00153 Mito_carr; 3 # Proteomes UP000005640 Chromosome 1 # RecName S2533_HUMAN Solute carrier family 25 member 33 # RefSeq NP_115691 NM_032315.2 # SIMILARITY Belongs to the mitochondrial carrier (TC 2.A.29) family. {ECO 0000305}. # SIMILARITY Contains 3 Solcar repeats. {ECO:0000255|PROSITE- ProRule PRU00282}. # SUBCELLULAR LOCATION S2533_HUMAN Mitochondrion inner membrane {ECO 0000305|PubMed 14715278}; Multi-pass membrane protein {ECO 0000255}. # SUPFAM SSF103506 SSF103506 # TCDB 2.A.29.10 the mitochondrial carrier (mc) family # TISSUE SPECIFICITY Expressed in the central nervous system. Also expressed in testis and skeletal muscle. Weakly expressed in heart, liver, kidney, prostate, colon and peripheral blood leukocytes. {ECO:0000269|PubMed 14715278}. # UCSC uc001apw human # eggNOG ENOG410XS20 LUCA # eggNOG KOG0757 Eukaryota BLAST swissprot:S2533_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S2533_HUMAN COXPRESdb 84275 http://coxpresdb.jp/data/gene/84275.shtml CleanEx HS_SLC25A33 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC25A33 DOI 10.1016/j.bbrc.2003.12.071 http://dx.doi.org/10.1016/j.bbrc.2003.12.071 DOI 10.1016/j.ygeno.2006.06.016 http://dx.doi.org/10.1016/j.ygeno.2006.06.016 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1038/onc.2010.146 http://dx.doi.org/10.1038/onc.2010.146 DOI 10.1074/jbc.M114.610808 http://dx.doi.org/10.1074/jbc.M114.610808 DOI 10.1091/mbc.E06-12-1109 http://dx.doi.org/10.1091/mbc.E06-12-1109 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AF495714 http://www.ebi.ac.uk/ena/data/view/AF495714 EMBL AJ880283 http://www.ebi.ac.uk/ena/data/view/AJ880283 EMBL AL928921 http://www.ebi.ac.uk/ena/data/view/AL928921 EMBL AL928921 http://www.ebi.ac.uk/ena/data/view/AL928921 EMBL AL954705 http://www.ebi.ac.uk/ena/data/view/AL954705 EMBL AL954705 http://www.ebi.ac.uk/ena/data/view/AL954705 EMBL BC004991 http://www.ebi.ac.uk/ena/data/view/BC004991 EMBL BC073135 http://www.ebi.ac.uk/ena/data/view/BC073135 Ensembl ENST00000302692 http://www.ensembl.org/id/ENST00000302692 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0031966 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031966 GO_function GO:0015218 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015218 GO_process GO:0000002 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000002 GO_process GO:0002082 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002082 GO_process GO:0006264 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006264 GO_process GO:0006390 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006390 GO_process GO:0006864 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006864 GO_process GO:0007005 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007005 GO_process GO:0008284 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008284 GO_process GO:0030307 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030307 GO_process GO:0031930 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031930 GO_process GO:0032869 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032869 GO_process GO:0034551 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034551 GO_process GO:0051881 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051881 GO_process GO:0071156 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071156 GO_process GO:1903426 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903426 GO_process GO:1990314 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1990314 GO_process GO:1990519 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1990519 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006259 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006259 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007005 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007005 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.50.40.10 http://www.cathdb.info/version/latest/superfamily/1.50.40.10 GeneCards SLC25A33 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC25A33 GeneID 84275 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=84275 GeneTree ENSGT00550000074670 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074670 H-InvDB HIX0009627 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0009627 HGNC HGNC:29681 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:29681 HOGENOM HOG000188210 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000188210&db=HOGENOM6 HOVERGEN HBG059891 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG059891&db=HOVERGEN HPA HPA049982 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA049982 InParanoid Q9BSK2 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9BSK2 IntAct Q9BSK2 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9BSK2* InterPro IPR018108 http://www.ebi.ac.uk/interpro/entry/IPR018108 InterPro IPR023395 http://www.ebi.ac.uk/interpro/entry/IPR023395 Jabion 84275 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=84275 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:84275 http://www.genome.jp/dbget-bin/www_bget?hsa:84275 KEGG_Orthology KO:K15116 http://www.genome.jp/dbget-bin/www_bget?KO:K15116 MIM 610816 http://www.ncbi.nlm.nih.gov/omim/610816 MINT MINT-6943347 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-6943347 OMA YLLEDHA http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=YLLEDHA OrthoDB EOG091G0BCW http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0BCW PROSITE PS50920 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50920 PSORT swissprot:S2533_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S2533_HUMAN PSORT-B swissprot:S2533_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S2533_HUMAN PSORT2 swissprot:S2533_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S2533_HUMAN Pfam PF00153 http://pfam.xfam.org/family/PF00153 PharmGKB PA162403588 http://www.pharmgkb.org/do/serve?objId=PA162403588&objCls=Gene Phobius swissprot:S2533_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S2533_HUMAN PhylomeDB Q9BSK2 http://phylomedb.org/?seqid=Q9BSK2 ProteinModelPortal Q9BSK2 http://www.proteinmodelportal.org/query/uniprot/Q9BSK2 PubMed 14715278 http://www.ncbi.nlm.nih.gov/pubmed/14715278 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 16949250 http://www.ncbi.nlm.nih.gov/pubmed/16949250 PubMed 17596519 http://www.ncbi.nlm.nih.gov/pubmed/17596519 PubMed 20453889 http://www.ncbi.nlm.nih.gov/pubmed/20453889 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 25320081 http://www.ncbi.nlm.nih.gov/pubmed/25320081 RefSeq NP_115691 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_115691 SMR Q9BSK2 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9BSK2 STRING 9606.ENSP00000306328 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000306328&targetmode=cogs SUPFAM SSF103506 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103506 TCDB 2.A.29.10 http://www.tcdb.org/search/result.php?tc=2.A.29.10 UCSC uc001apw http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001apw&org=rat UniGene Hs.568613 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.568613 UniProtKB S2533_HUMAN http://www.uniprot.org/uniprot/S2533_HUMAN UniProtKB-AC Q9BSK2 http://www.uniprot.org/uniprot/Q9BSK2 charge swissprot:S2533_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S2533_HUMAN eggNOG ENOG410XS20 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XS20 eggNOG KOG0757 http://eggnogapi.embl.de/nog_data/html/tree/KOG0757 epestfind swissprot:S2533_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S2533_HUMAN garnier swissprot:S2533_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S2533_HUMAN helixturnhelix swissprot:S2533_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S2533_HUMAN hmoment swissprot:S2533_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S2533_HUMAN iep swissprot:S2533_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S2533_HUMAN inforesidue swissprot:S2533_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S2533_HUMAN neXtProt NX_Q9BSK2 http://www.nextprot.org/db/entry/NX_Q9BSK2 octanol swissprot:S2533_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S2533_HUMAN pepcoil swissprot:S2533_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S2533_HUMAN pepdigest swissprot:S2533_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S2533_HUMAN pepinfo swissprot:S2533_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S2533_HUMAN pepnet swissprot:S2533_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S2533_HUMAN pepstats swissprot:S2533_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S2533_HUMAN pepwheel swissprot:S2533_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S2533_HUMAN pepwindow swissprot:S2533_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S2533_HUMAN sigcleave swissprot:S2533_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S2533_HUMAN ## Database ID URL or Descriptions # AltName TPC2_HUMAN Voltage-dependent calcium channel protein TPC2 # BioGrid 128596 51 # ChiTaRS TPCN2 human # DOMAIN TPC2_HUMAN Each of the two internal repeats contains five hydrophobic transmembrane segments (S1, S2, S3, S5, S6) and one positively charged transmembrane segment (S4). S4 segments probably represent the voltage-sensor and are characterized by a series of positively charged amino acids at every third position (By similarity). {ECO 0000250}. # Ensembl ENST00000294309 ENSP00000294309; ENSG00000162341 # ExpressionAtlas Q8NHX9 baseline and differential # FUNCTION TPC2_HUMAN Nicotinic acid adenine dinucleotide phosphate (NAADP) receptor that may function as one of the major voltage-gated Ca(2+) channels (VDCC) across the lysosomal membrane. May be involved in smooth muscle contraction. {ECO 0000269|PubMed 19387438, ECO 0000269|PubMed 19620632}. # GO_component GO:0005764 lysosome; IDA:ParkinsonsUK-UCL. # GO_component GO:0005765 lysosomal membrane; IDA:UniProtKB. # GO_component GO:0005886 plasma membrane; IBA:GO_Central. # GO_component GO:0010008 endosome membrane; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0005245 voltage-gated calcium channel activity; ISS:UniProtKB. # GO_function GO:0019901 protein kinase binding; IPI:UniProtKB. # GO_function GO:0072345 NAADP-sensitive calcium-release channel activity; IDA:UniProtKB. # GO_process GO:0006874 cellular calcium ion homeostasis; IDA:UniProtKB. # GO_process GO:0006939 smooth muscle contraction; ISS:UniProtKB. # GO_process GO:0007040 lysosome organization; IGI:ParkinsonsUK-UCL. # GO_process GO:0010506 regulation of autophagy; IGI:ParkinsonsUK-UCL. # GO_process GO:0019722 calcium-mediated signaling; IGI:ParkinsonsUK-UCL. # GO_process GO:0033280 response to vitamin D; IEA:Ensembl. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0086010 membrane depolarization during action potential; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005764 lysosome # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0019899 enzyme binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.20.120.350 -; 1. # Genevisible Q8NHX9 HS # HGNC HGNC:20820 TPCN2 # INTERACTION TPC2_HUMAN Self; NbExp=4; IntAct=EBI-5239949, EBI-5239949; O00165 HAX1; NbExp=4; IntAct=EBI-5239949, EBI-357001; P42345 MTOR; NbExp=2; IntAct=EBI-5239949, EBI-359260; Q9ULQ1 TPCN1; NbExp=9; IntAct=EBI-5239949, EBI-5239895; # IntAct Q8NHX9 3 # InterPro IPR005821 Ion_trans_dom # InterPro IPR027359 Channel_four-helix_dom # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02000 Transporters # KEGG_Pathway ko04972 Pancreatic secretion # MIM 612163 gene # MIM 612267 phenotype # Organism TPC2_HUMAN Homo sapiens (Human) # PIR T46421 T46421 # POLYMORPHISM Genetic variants in TPCN2 define the skin/hair/eye pigmentation variation locus 10 (SHEP10) [MIM:612267]. Hair, eye and skin pigmentation are among the most visible examples of human phenotypic variation, with a broad normal range that is subject to substantial geographic stratification. In the case of skin, individuals tend to have lighter pigmentation with increasing distance from the equator. By contrast, the majority of variation in human eye and hair color is found among individuals of European ancestry, with most other human populations fixed for brown eyes and black hair. {ECO 0000269|PubMed:18488028}. # PTM TPC2_HUMAN N-glycosylated. {ECO 0000250}. # Pfam PF00520 Ion_trans; 2 # Proteomes UP000005640 Chromosome 11 # Reactome R-HSA-2672351 Stimuli-sensing channels # RecName TPC2_HUMAN Two pore calcium channel protein 2 # RefSeq NP_620714 NM_139075.3 # SIMILARITY Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. Two pore calcium channel subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION TPC2_HUMAN Lysosome membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. Note=Only the acidic lysosomal fraction is sensitive to NAADP. {ECO 0000250}. # SUBUNIT TPC2_HUMAN Homodimer (By similarity). Interacts with LRRK2 (PubMed 22012985). Interacts with HAX1 (PubMed 24188827). {ECO 0000250|UniProtKB Q8BWC0, ECO 0000269|PubMed 22012985, ECO 0000269|PubMed 24188827}. # TCDB 1.A.1.11.19 the voltage-gated ion channel (vic) superfamily # TISSUE SPECIFICITY Widely expressed. Expressed at high level in liver and kidney. {ECO:0000269|PubMed 19387438}. # UCSC uc001oos human # eggNOG ENOG410INF1 Eukaryota # eggNOG ENOG4111V21 LUCA BLAST swissprot:TPC2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:TPC2_HUMAN COXPRESdb 219931 http://coxpresdb.jp/data/gene/219931.shtml CleanEx HS_TPCN2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_TPCN2 DOI 10.1016/j.febslet.2013.10.031 http://dx.doi.org/10.1016/j.febslet.2013.10.031 DOI 10.1038/nature04632 http://dx.doi.org/10.1038/nature04632 DOI 10.1038/nature08030 http://dx.doi.org/10.1038/nature08030 DOI 10.1038/ng.160 http://dx.doi.org/10.1038/ng.160 DOI 10.1083/jcb.200904073 http://dx.doi.org/10.1083/jcb.200904073 DOI 10.1093/hmg/ddr481 http://dx.doi.org/10.1093/hmg/ddr481 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 EMBL AL137479 http://www.ebi.ac.uk/ena/data/view/AL137479 EMBL AP003071 http://www.ebi.ac.uk/ena/data/view/AP003071 EMBL AY029200 http://www.ebi.ac.uk/ena/data/view/AY029200 EMBL BC063008 http://www.ebi.ac.uk/ena/data/view/BC063008 Ensembl ENST00000294309 http://www.ensembl.org/id/ENST00000294309 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005764 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005764 GO_component GO:0005765 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005765 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0010008 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010008 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005245 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005245 GO_function GO:0019901 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019901 GO_function GO:0072345 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0072345 GO_process GO:0006874 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006874 GO_process GO:0006939 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006939 GO_process GO:0007040 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007040 GO_process GO:0010506 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010506 GO_process GO:0019722 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019722 GO_process GO:0033280 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033280 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0086010 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086010 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005764 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005764 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.20.120.350 http://www.cathdb.info/version/latest/superfamily/1.20.120.350 GeneCards TPCN2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=TPCN2 GeneID 219931 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=219931 GeneTree ENSGT00530000063660 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000063660 H-InvDB HIX0019754 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0019754 HGNC HGNC:20820 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:20820 HOGENOM HOG000154668 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000154668&db=HOGENOM6 HOVERGEN HBG079776 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG079776&db=HOVERGEN HPA HPA016561 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA016561 HPA HPA027080 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA027080 InParanoid Q8NHX9 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8NHX9 IntAct Q8NHX9 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q8NHX9* InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR027359 http://www.ebi.ac.uk/interpro/entry/IPR027359 Jabion 219931 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=219931 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Gene hsa:219931 http://www.genome.jp/dbget-bin/www_bget?hsa:219931 KEGG_Orthology KO:K14077 http://www.genome.jp/dbget-bin/www_bget?KO:K14077 KEGG_Pathway ko04972 http://www.genome.jp/kegg-bin/show_pathway?ko04972 MIM 612163 http://www.ncbi.nlm.nih.gov/omim/612163 MIM 612267 http://www.ncbi.nlm.nih.gov/omim/612267 OMA FVFGHYY http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=FVFGHYY OrthoDB EOG091G045K http://cegg.unige.ch/orthodb/results?searchtext=EOG091G045K PSORT swissprot:TPC2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:TPC2_HUMAN PSORT-B swissprot:TPC2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:TPC2_HUMAN PSORT2 swissprot:TPC2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:TPC2_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 PharmGKB PA134937857 http://www.pharmgkb.org/do/serve?objId=PA134937857&objCls=Gene Phobius swissprot:TPC2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:TPC2_HUMAN PhylomeDB Q8NHX9 http://phylomedb.org/?seqid=Q8NHX9 ProteinModelPortal Q8NHX9 http://www.proteinmodelportal.org/query/uniprot/Q8NHX9 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16554811 http://www.ncbi.nlm.nih.gov/pubmed/16554811 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 PubMed 18488028 http://www.ncbi.nlm.nih.gov/pubmed/18488028 PubMed 19387438 http://www.ncbi.nlm.nih.gov/pubmed/19387438 PubMed 19620632 http://www.ncbi.nlm.nih.gov/pubmed/19620632 PubMed 22012985 http://www.ncbi.nlm.nih.gov/pubmed/22012985 PubMed 24188827 http://www.ncbi.nlm.nih.gov/pubmed/24188827 Reactome R-HSA-2672351 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2672351 RefSeq NP_620714 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_620714 STRING 9606.ENSP00000294309 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000294309&targetmode=cogs TCDB 1.A.1.11.19 http://www.tcdb.org/search/result.php?tc=1.A.1.11.19 UCSC uc001oos http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001oos&org=rat UniGene Hs.131851 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.131851 UniProtKB TPC2_HUMAN http://www.uniprot.org/uniprot/TPC2_HUMAN UniProtKB-AC Q8NHX9 http://www.uniprot.org/uniprot/Q8NHX9 charge swissprot:TPC2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:TPC2_HUMAN eggNOG ENOG410INF1 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410INF1 eggNOG ENOG4111V21 http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111V21 epestfind swissprot:TPC2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:TPC2_HUMAN garnier swissprot:TPC2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:TPC2_HUMAN helixturnhelix swissprot:TPC2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:TPC2_HUMAN hmoment swissprot:TPC2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:TPC2_HUMAN iep swissprot:TPC2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:TPC2_HUMAN inforesidue swissprot:TPC2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:TPC2_HUMAN neXtProt NX_Q8NHX9 http://www.nextprot.org/db/entry/NX_Q8NHX9 octanol swissprot:TPC2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:TPC2_HUMAN pepcoil swissprot:TPC2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:TPC2_HUMAN pepdigest swissprot:TPC2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:TPC2_HUMAN pepinfo swissprot:TPC2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:TPC2_HUMAN pepnet swissprot:TPC2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:TPC2_HUMAN pepstats swissprot:TPC2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:TPC2_HUMAN pepwheel swissprot:TPC2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:TPC2_HUMAN pepwindow swissprot:TPC2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:TPC2_HUMAN sigcleave swissprot:TPC2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:TPC2_HUMAN ## Database ID URL or Descriptions # AltName S15A3_HUMAN Osteoclast transporter # AltName S15A3_HUMAN Peptide transporter 3 # AltName S15A3_HUMAN Peptide/histidine transporter 2 # BioGrid 119447 8 # CDD cd06174 MFS # Ensembl ENST00000227880 ENSP00000227880; ENSG00000110446 # ExpressionAtlas Q8IY34 baseline and differential # FUNCTION S15A3_HUMAN Proton oligopeptide cotransporter. Transports free histidine and certain di- and tripeptides (By similarity). {ECO 0000250}. # GO_component GO:0005765 lysosomal membrane; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0043231 intracellular membrane-bounded organelle; IDA:HPA. # GO_function S15A3_HUMAN GO 0015333 peptide proton symporter activity; TAS Reactome. # GO_process GO:0006811 ion transport; TAS:Reactome. # GO_process GO:0015031 protein transport; IEA:UniProtKB-KW. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0043226 organelle # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # Genevisible Q8IY34 HS # HGNC HGNC:18068 SLC15A3 # IntAct Q8IY34 3 # InterPro IPR000109 POT_fam # InterPro IPR020846 MFS_dom # KEGG_Brite ko02001 Solute carrier family # MIM 610408 gene # Organism S15A3_HUMAN Homo sapiens (Human) # PANTHER PTHR11654 PTHR11654; 2 # Pfam PF00854 PTR2 # Proteomes UP000005640 Chromosome 11 # Reactome R-HSA-427975 Proton/oligopeptide cotransporters # RecName S15A3_HUMAN Solute carrier family 15 member 3 # RefSeq NP_057666 NM_016582.2 # SIMILARITY Belongs to the PTR2/POT transporter (TC 2.A.17) family. {ECO 0000305}. # SUBCELLULAR LOCATION S15A3_HUMAN Lysosome membrane {ECO 0000269|PubMed 17897319}; Multi-pass membrane protein {ECO 0000269|PubMed 17897319}. # SUPFAM SSF103473 SSF103473; 3 # TCDB 2.A.17.3 the proton-dependent oligopeptide transporter (pot/ptr) family # UCSC uc001nqn human # eggNOG COG3104 LUCA # eggNOG KOG1237 Eukaryota BLAST swissprot:S15A3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S15A3_HUMAN COXPRESdb 51296 http://coxpresdb.jp/data/gene/51296.shtml CleanEx HS_SLC15A3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC15A3 DIP DIP-60838N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-60838N DOI 10.1038/nature04632 http://dx.doi.org/10.1038/nature04632 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1600-0854.2007.00643.x http://dx.doi.org/10.1111/j.1600-0854.2007.00643.x EMBL AB020598 http://www.ebi.ac.uk/ena/data/view/AB020598 EMBL AF135600 http://www.ebi.ac.uk/ena/data/view/AF135600 EMBL AP003721 http://www.ebi.ac.uk/ena/data/view/AP003721 EMBL BC037974 http://www.ebi.ac.uk/ena/data/view/BC037974 Ensembl ENST00000227880 http://www.ensembl.org/id/ENST00000227880 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005765 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005765 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0043231 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043231 GO_function GO:0015333 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015333 GO_process GO:0006811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006811 GO_process GO:0015031 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015031 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GeneCards SLC15A3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC15A3 GeneID 51296 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=51296 GeneTree ENSGT00530000062961 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000062961 HGNC HGNC:18068 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:18068 HOGENOM HOG000143436 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000143436&db=HOGENOM6 HOVERGEN HBG108431 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG108431&db=HOVERGEN HPA HPA047880 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA047880 HPA HPA057642 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA057642 InParanoid Q8IY34 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8IY34 IntAct Q8IY34 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q8IY34* InterPro IPR000109 http://www.ebi.ac.uk/interpro/entry/IPR000109 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 51296 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=51296 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:51296 http://www.genome.jp/dbget-bin/www_bget?hsa:51296 KEGG_Orthology KO:K14638 http://www.genome.jp/dbget-bin/www_bget?KO:K14638 MIM 610408 http://www.ncbi.nlm.nih.gov/omim/610408 OMA HYIHRNE http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=HYIHRNE OrthoDB EOG091G0GF9 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0GF9 PANTHER PTHR11654 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11654 PSORT swissprot:S15A3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S15A3_HUMAN PSORT-B swissprot:S15A3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S15A3_HUMAN PSORT2 swissprot:S15A3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S15A3_HUMAN Pfam PF00854 http://pfam.xfam.org/family/PF00854 PharmGKB PA134919658 http://www.pharmgkb.org/do/serve?objId=PA134919658&objCls=Gene Phobius swissprot:S15A3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S15A3_HUMAN PhylomeDB Q8IY34 http://phylomedb.org/?seqid=Q8IY34 ProteinModelPortal Q8IY34 http://www.proteinmodelportal.org/query/uniprot/Q8IY34 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16554811 http://www.ncbi.nlm.nih.gov/pubmed/16554811 PubMed 17897319 http://www.ncbi.nlm.nih.gov/pubmed/17897319 Reactome R-HSA-427975 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-427975 RefSeq NP_057666 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_057666 STRING 9606.ENSP00000227880 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000227880&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.17.3 http://www.tcdb.org/search/result.php?tc=2.A.17.3 UCSC uc001nqn http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001nqn&org=rat UniGene Hs.237856 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.237856 UniProtKB S15A3_HUMAN http://www.uniprot.org/uniprot/S15A3_HUMAN UniProtKB-AC Q8IY34 http://www.uniprot.org/uniprot/Q8IY34 charge swissprot:S15A3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S15A3_HUMAN eggNOG COG3104 http://eggnogapi.embl.de/nog_data/html/tree/COG3104 eggNOG KOG1237 http://eggnogapi.embl.de/nog_data/html/tree/KOG1237 epestfind swissprot:S15A3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S15A3_HUMAN garnier swissprot:S15A3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S15A3_HUMAN helixturnhelix swissprot:S15A3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S15A3_HUMAN hmoment swissprot:S15A3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S15A3_HUMAN iep swissprot:S15A3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S15A3_HUMAN inforesidue swissprot:S15A3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S15A3_HUMAN neXtProt NX_Q8IY34 http://www.nextprot.org/db/entry/NX_Q8IY34 octanol swissprot:S15A3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S15A3_HUMAN pepcoil swissprot:S15A3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S15A3_HUMAN pepdigest swissprot:S15A3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S15A3_HUMAN pepinfo swissprot:S15A3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S15A3_HUMAN pepnet swissprot:S15A3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S15A3_HUMAN pepstats swissprot:S15A3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S15A3_HUMAN pepwheel swissprot:S15A3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S15A3_HUMAN pepwindow swissprot:S15A3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S15A3_HUMAN sigcleave swissprot:S15A3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S15A3_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS ATP5H_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O75947-1; Sequence=Displayed; Name=2; IsoId=O75947-2; Sequence=VSP_000436; # BioGrid 115739 58 # CCDS CCDS11712 -. [O75947-1] # CCDS CCDS32727 -. [O75947-2] # Ensembl ENST00000301587 ENSP00000301587; ENSG00000167863. [O75947-1] # Ensembl ENST00000344546 ENSP00000344230; ENSG00000167863. [O75947-2] # ExpressionAtlas O75947 baseline and differential # FUNCTION ATP5H_HUMAN Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(0) domain and the peripheric stalk, which acts as a stator to hold the catalytic alpha(3)beta(3) subcomplex and subunit a/ATP6 static relative to the rotary elements. # GO_component GO:0000274 mitochondrial proton-transporting ATP synthase, stator stalk; IBA:GO_Central. # GO_component GO:0005654 nucleoplasm; IDA:HPA. # GO_component GO:0005737 cytoplasm; IDA:HPA. # GO_component GO:0005739 mitochondrion; IDA:UniProtKB. # GO_component GO:0005743 mitochondrial inner membrane; IDA:UniProtKB. # GO_component GO:0005753 mitochondrial proton-transporting ATP synthase complex; IDA:UniProtKB. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0015078 hydrogen ion transmembrane transporter activity; IEA:InterPro. # GO_function GO:0022857 transmembrane transporter activity; IC:UniProtKB. # GO_process GO:0006754 ATP biosynthetic process; TAS:Reactome. # GO_process GO:0015986 ATP synthesis coupled proton transport; IBA:GO_Central. # GO_process GO:0042776 mitochondrial ATP synthesis coupled proton transport; IC:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005654 nucleoplasm # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005739 mitochondrion # GOslim_component GO:0043226 organelle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0044281 small molecule metabolic process # GOslim_process GO:0055085 transmembrane transport # Genevisible O75947 HS # HGNC HGNC:845 ATP5H # IntAct O75947 28 # InterPro IPR008689 ATP_synth_F0_dsu_mt # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Brite ko01000 Enzymes # KEGG_Pathway ko00190 Oxidative phosphorylation # KEGG_Pathway ko05010 Alzheimer's disease # KEGG_Pathway ko05012 Parkinson's disease # KEGG_Pathway ko05016 Huntington's disease # Organism ATP5H_HUMAN Homo sapiens (Human) # PANTHER PTHR12700 PTHR12700 # PIRSF PIRSF005514 ATPase_F0_D_mt # Proteomes UP000005640 Chromosome 17 # Reactome R-HSA-163210 Formation of ATP by chemiosmotic coupling # RecName ATP5H_HUMAN ATP synthase subunit d, mitochondrial # RefSeq NP_001003785 NM_001003785.1. [O75947-2] # RefSeq NP_006347 NM_006356.2. [O75947-1] # SIMILARITY Belongs to the ATPase d subunit family. {ECO 0000305}. # SUBCELLULAR LOCATION ATP5H_HUMAN Mitochondrion. Mitochondrion inner membrane. # SUBUNIT F-type ATPases have 2 components, CF(1) - the catalytic core - and CF(0) - the membrane proton channel. CF(0) seems to have nine subunits: a, b, c, d, e, f, g, F6 and 8 (or A6L). Component of an ATP synthase complex composed of ATP5F1, ATP5G1, ATP5E, ATP5H, ATP5I, ATP5J, ATP5J2, MT-ATP6, MT-ATP8, ATP5A1, ATP5B, ATP5D, ATP5C1, ATP5O, ATP5L, USMG5 and MP68 (By similarity). {ECO 0000250}. # SUPFAM SSF161065 SSF161065 # TopDownProteomics O75947-1 -. [O75947-1] # TopDownProteomics O75947-2 -. [O75947-2] # UCSC uc002jmn human. [O75947-1] # eggNOG ENOG4111IHJ LUCA # eggNOG KOG3366 Eukaryota BLAST swissprot:ATP5H_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ATP5H_HUMAN BioCyc ZFISH:HS09654-MONOMER http://biocyc.org/getid?id=ZFISH:HS09654-MONOMER COXPRESdb 10476 http://coxpresdb.jp/data/gene/10476.shtml CleanEx HS_ATP5H http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ATP5H DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.140200 http://dx.doi.org/10.1101/gr.140200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1175371 http://dx.doi.org/10.1126/science.1175371 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AF061735 http://www.ebi.ac.uk/ena/data/view/AF061735 EMBL AF070650 http://www.ebi.ac.uk/ena/data/view/AF070650 EMBL AF087135 http://www.ebi.ac.uk/ena/data/view/AF087135 EMBL AK312230 http://www.ebi.ac.uk/ena/data/view/AK312230 EMBL BC032245 http://www.ebi.ac.uk/ena/data/view/BC032245 EMBL BC038092 http://www.ebi.ac.uk/ena/data/view/BC038092 EMBL CH471099 http://www.ebi.ac.uk/ena/data/view/CH471099 Ensembl ENST00000301587 http://www.ensembl.org/id/ENST00000301587 Ensembl ENST00000344546 http://www.ensembl.org/id/ENST00000344546 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000274 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000274 GO_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0005753 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005753 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0015078 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015078 GO_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GO_process GO:0006754 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006754 GO_process GO:0015986 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015986 GO_process GO:0042776 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042776 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards ATP5H http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ATP5H GeneID 10476 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=10476 GeneTree ENSGT00390000003582 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000003582 HGNC HGNC:845 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:845 HOGENOM HOG000267023 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000267023&db=HOGENOM6 HOVERGEN HBG050612 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050612&db=HOVERGEN HPA HPA042777 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA042777 HPA HPA048459 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA048459 InParanoid O75947 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O75947 IntAct O75947 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O75947* InterPro IPR008689 http://www.ebi.ac.uk/interpro/entry/IPR008689 Jabion 10476 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=10476 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00002 http://www.genome.jp/dbget-bin/www_bget?ko00002 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Gene hsa:10476 http://www.genome.jp/dbget-bin/www_bget?hsa:10476 KEGG_Orthology KO:K02138 http://www.genome.jp/dbget-bin/www_bget?KO:K02138 KEGG_Pathway ko00190 http://www.genome.jp/kegg-bin/show_pathway?ko00190 KEGG_Pathway ko05010 http://www.genome.jp/kegg-bin/show_pathway?ko05010 KEGG_Pathway ko05012 http://www.genome.jp/kegg-bin/show_pathway?ko05012 KEGG_Pathway ko05016 http://www.genome.jp/kegg-bin/show_pathway?ko05016 MINT MINT-1407327 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1407327 OMA PYPQDKV http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=PYPQDKV OrthoDB EOG091G0MQA http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0MQA PANTHER PTHR12700 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12700 PSORT swissprot:ATP5H_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ATP5H_HUMAN PSORT-B swissprot:ATP5H_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ATP5H_HUMAN PSORT2 swissprot:ATP5H_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ATP5H_HUMAN PharmGKB PA25135 http://www.pharmgkb.org/do/serve?objId=PA25135&objCls=Gene Phobius swissprot:ATP5H_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ATP5H_HUMAN PhylomeDB O75947 http://phylomedb.org/?seqid=O75947 ProteinModelPortal O75947 http://www.proteinmodelportal.org/query/uniprot/O75947 PubMed 11042152 http://www.ncbi.nlm.nih.gov/pubmed/11042152 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 19608861 http://www.ncbi.nlm.nih.gov/pubmed/19608861 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 Reactome R-HSA-163210 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-163210 RefSeq NP_001003785 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001003785 RefSeq NP_006347 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_006347 SMR O75947 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=O75947 STRING 9606.ENSP00000301587 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000301587&targetmode=cogs SUPFAM SSF161065 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF161065 UCSC uc002jmn http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002jmn&org=rat UniGene Hs.514465 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.514465 UniProtKB ATP5H_HUMAN http://www.uniprot.org/uniprot/ATP5H_HUMAN UniProtKB-AC O75947 http://www.uniprot.org/uniprot/O75947 charge swissprot:ATP5H_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ATP5H_HUMAN eggNOG ENOG4111IHJ http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111IHJ eggNOG KOG3366 http://eggnogapi.embl.de/nog_data/html/tree/KOG3366 epestfind swissprot:ATP5H_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ATP5H_HUMAN garnier swissprot:ATP5H_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ATP5H_HUMAN helixturnhelix swissprot:ATP5H_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ATP5H_HUMAN hmoment swissprot:ATP5H_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ATP5H_HUMAN iep swissprot:ATP5H_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ATP5H_HUMAN inforesidue swissprot:ATP5H_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ATP5H_HUMAN neXtProt NX_O75947 http://www.nextprot.org/db/entry/NX_O75947 octanol swissprot:ATP5H_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ATP5H_HUMAN pepcoil swissprot:ATP5H_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ATP5H_HUMAN pepdigest swissprot:ATP5H_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ATP5H_HUMAN pepinfo swissprot:ATP5H_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ATP5H_HUMAN pepnet swissprot:ATP5H_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ATP5H_HUMAN pepstats swissprot:ATP5H_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ATP5H_HUMAN pepwheel swissprot:ATP5H_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ATP5H_HUMAN pepwindow swissprot:ATP5H_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ATP5H_HUMAN sigcleave swissprot:ATP5H_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ATP5H_HUMAN ## Database ID URL or Descriptions # AltName KCNH3_HUMAN Brain-specific eag-like channel 1 # AltName KCNH3_HUMAN Ether-a-go-go-like potassium channel 2 # AltName KCNH3_HUMAN Voltage-gated potassium channel subunit Kv12.2 # DOMAIN KCNH3_HUMAN The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position. # Ensembl ENST00000257981 ENSP00000257981; ENSG00000135519 # FUNCTION KCNH3_HUMAN Pore-forming (alpha) subunit of voltage-gated potassium channel. Elicits an outward current with fast inactivation. Channel properties may be modulated by cAMP and subunit assembly. # GO_component GO:0005622 intracellular; IEA:GOC. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0016021 integral component of membrane; NAS:UniProtKB. # GO_function GO:0000155 phosphorelay sensor kinase activity; IEA:InterPro. # GO_function GO:0005249 voltage-gated potassium channel activity; TAS:UniProtKB. # GO_process GO:0006813 potassium ion transport; TAS:UniProtKB. # GO_process GO:0042391 regulation of membrane potential; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005622 intracellular # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0016301 kinase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # Gene3D 2.60.120.10 -; 1. # Genevisible Q9ULD8 HS # HGNC HGNC:6252 KCNH3 # INTERACTION KCNH3_HUMAN P04578 env (xeno); NbExp=3; IntAct=EBI-8079227, EBI-6163496; # InterPro IPR000014 PAS # InterPro IPR000595 cNMP-bd_dom # InterPro IPR000700 PAS-assoc_C # InterPro IPR001610 PAC # InterPro IPR003938 K_chnl_volt-dep_EAG/ELK/ERG # InterPro IPR003950 K_chnl_volt-dep_ELK # InterPro IPR005821 Ion_trans_dom # InterPro IPR014710 RmlC-like_jellyroll # InterPro IPR018490 cNMP-bd-like # KEGG_Brite ko04040 Ion channels # MIM 604527 gene # Organism KCNH3_HUMAN Homo sapiens (Human) # PRINTS PR01463 EAGCHANLFMLY # PRINTS PR01465 ELKCHANNEL # PROSITE PS50042 CNMP_BINDING_3 # PROSITE PS50112 PAS # PROSITE PS50113 PAC # Pfam PF00027 cNMP_binding # Pfam PF00520 Ion_trans # Pfam PF13426 PAS_9 # Proteomes UP000005640 Chromosome 12 # Reactome R-HSA-1296072 Voltage gated Potassium channels # RecName KCNH3_HUMAN Potassium voltage-gated channel subfamily H member 3 # RefSeq NP_001300959 NM_001314030.1 # RefSeq NP_036416 NM_012284.2 # SEQUENCE CAUTION Sequence=BAA86596.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the potassium channel family. H (Eag) (TC 1.A.1.20) subfamily. Kv12.2/KCNH3 sub-subfamily. {ECO 0000305}. # SIMILARITY Contains 1 PAC (PAS-associated C-terminal) domain. {ECO:0000255|PROSITE-ProRule PRU00141}. # SIMILARITY Contains 1 PAS (PER-ARNT-SIM) domain. {ECO:0000255|PROSITE-ProRule PRU00140}. # SIMILARITY Contains 1 cyclic nucleotide-binding domain. {ECO:0000255|PROSITE-ProRule PRU00060}. # SMART SM00086 PAC # SMART SM00100 cNMP # SUBCELLULAR LOCATION KCNH3_HUMAN Membrane; Multi-pass membrane protein. # SUBUNIT KCNH3_HUMAN The potassium channel is probably composed of a homo- or heterotetrameric complex of pore-forming alpha subunits that can associate with modulating beta subunits. # SUPFAM SSF51206 SSF51206 # SUPFAM SSF55785 SSF55785 # TCDB 1.A.1.20 the voltage-gated ion channel (vic) superfamily # TIGRFAMs TIGR00229 sensory_box # TISSUE SPECIFICITY KCNH3_HUMAN Detected only in brain, in particular in the telencephalon. Detected in the cerebral cortex, occipital pole, frontal and temporal lobe, putamen, amygdala, hippocampus and caudate nucleus. # UCSC uc001ruh human # eggNOG ENOG410XPSE LUCA # eggNOG KOG0498 Eukaryota BLAST swissprot:KCNH3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCNH3_HUMAN BioCyc ZFISH:ENSG00000135519-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000135519-MONOMER COXPRESdb 23416 http://coxpresdb.jp/data/gene/23416.shtml CleanEx HS_KCNH3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNH3 DOI 10.1074/jbc.274.35.25018 http://dx.doi.org/10.1074/jbc.274.35.25018 DOI 10.1093/dnares/6.5.337 http://dx.doi.org/10.1093/dnares/6.5.337 EMBL AB022696 http://www.ebi.ac.uk/ena/data/view/AB022696 EMBL AB033108 http://www.ebi.ac.uk/ena/data/view/AB033108 Ensembl ENST00000257981 http://www.ensembl.org/id/ENST00000257981 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005622 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005622 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0000155 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000155 GO_function GO:0005249 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005249 GO_process GO:0006813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006813 GO_process GO:0042391 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042391 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005622 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005622 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0016301 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016301 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 Gene3D 2.60.120.10 http://www.cathdb.info/version/latest/superfamily/2.60.120.10 GeneCards KCNH3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNH3 GeneID 23416 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=23416 GeneTree ENSGT00760000118772 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118772 HGNC HGNC:6252 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6252 HOGENOM HOG000230794 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000230794&db=HOGENOM6 HOVERGEN HBG052232 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052232&db=HOVERGEN HPA HPA051088 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA051088 InParanoid Q9ULD8 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9ULD8 IntAct Q9ULD8 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9ULD8* InterPro IPR000014 http://www.ebi.ac.uk/interpro/entry/IPR000014 InterPro IPR000595 http://www.ebi.ac.uk/interpro/entry/IPR000595 InterPro IPR000700 http://www.ebi.ac.uk/interpro/entry/IPR000700 InterPro IPR001610 http://www.ebi.ac.uk/interpro/entry/IPR001610 InterPro IPR003938 http://www.ebi.ac.uk/interpro/entry/IPR003938 InterPro IPR003950 http://www.ebi.ac.uk/interpro/entry/IPR003950 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR014710 http://www.ebi.ac.uk/interpro/entry/IPR014710 InterPro IPR018490 http://www.ebi.ac.uk/interpro/entry/IPR018490 Jabion 23416 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=23416 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:23416 http://www.genome.jp/dbget-bin/www_bget?hsa:23416 KEGG_Orthology KO:K04906 http://www.genome.jp/dbget-bin/www_bget?KO:K04906 MIM 604527 http://www.ncbi.nlm.nih.gov/omim/604527 MINT MINT-7968644 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-7968644 OMA PLMAPWP http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=PLMAPWP OrthoDB EOG091G0OXR http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0OXR PRINTS PR01463 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01463 PRINTS PR01465 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01465 PROSITE PS50042 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50042 PROSITE PS50112 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50112 PROSITE PS50113 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50113 PSORT swissprot:KCNH3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCNH3_HUMAN PSORT-B swissprot:KCNH3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCNH3_HUMAN PSORT2 swissprot:KCNH3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCNH3_HUMAN Pfam PF00027 http://pfam.xfam.org/family/PF00027 Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF13426 http://pfam.xfam.org/family/PF13426 PharmGKB PA30038 http://www.pharmgkb.org/do/serve?objId=PA30038&objCls=Gene Phobius swissprot:KCNH3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCNH3_HUMAN PhylomeDB Q9ULD8 http://phylomedb.org/?seqid=Q9ULD8 ProteinModelPortal Q9ULD8 http://www.proteinmodelportal.org/query/uniprot/Q9ULD8 PubMed 10455180 http://www.ncbi.nlm.nih.gov/pubmed/10455180 PubMed 10574462 http://www.ncbi.nlm.nih.gov/pubmed/10574462 Reactome R-HSA-1296072 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1296072 RefSeq NP_001300959 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001300959 RefSeq NP_036416 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_036416 SMART SM00086 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00086 SMART SM00100 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00100 SMR Q9ULD8 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9ULD8 STRING 9606.ENSP00000257981 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000257981&targetmode=cogs SUPFAM SSF51206 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF51206 SUPFAM SSF55785 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF55785 TCDB 1.A.1.20 http://www.tcdb.org/search/result.php?tc=1.A.1.20 TIGRFAMs TIGR00229 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00229 UCSC uc001ruh http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001ruh&org=rat UniGene Hs.64064 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.64064 UniProtKB KCNH3_HUMAN http://www.uniprot.org/uniprot/KCNH3_HUMAN UniProtKB-AC Q9ULD8 http://www.uniprot.org/uniprot/Q9ULD8 charge swissprot:KCNH3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCNH3_HUMAN eggNOG ENOG410XPSE http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XPSE eggNOG KOG0498 http://eggnogapi.embl.de/nog_data/html/tree/KOG0498 epestfind swissprot:KCNH3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCNH3_HUMAN garnier swissprot:KCNH3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCNH3_HUMAN helixturnhelix swissprot:KCNH3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCNH3_HUMAN hmoment swissprot:KCNH3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCNH3_HUMAN iep swissprot:KCNH3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCNH3_HUMAN inforesidue swissprot:KCNH3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCNH3_HUMAN neXtProt NX_Q9ULD8 http://www.nextprot.org/db/entry/NX_Q9ULD8 octanol swissprot:KCNH3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCNH3_HUMAN pepcoil swissprot:KCNH3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCNH3_HUMAN pepdigest swissprot:KCNH3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCNH3_HUMAN pepinfo swissprot:KCNH3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCNH3_HUMAN pepnet swissprot:KCNH3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCNH3_HUMAN pepstats swissprot:KCNH3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCNH3_HUMAN pepwheel swissprot:KCNH3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCNH3_HUMAN pepwindow swissprot:KCNH3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCNH3_HUMAN sigcleave swissprot:KCNH3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCNH3_HUMAN ## Database ID URL or Descriptions # AltName ATP8_HUMAN A6L # AltName ATP8_HUMAN F-ATPase subunit 8 # BioGrid 110613 17 # DISEASE ATP8_HUMAN Mitochondrial complex V deficiency, mitochondrial 2 (MC5DM2) [MIM 516070] A mitochondrial disorder with heterogeneous clinical manifestations including neuropathy, ataxia, hypertrophic cardiomyopathy. Hypertrophic cardiomyopathy can present with negligible to extreme hypertrophy, minimal to extensive fibrosis and myocyte disarray, absent to severe left ventricular outflow tract obstruction, and distinct septal contours/morphologies with extremely varying clinical course. {ECO 0000269|PubMed 19188198}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000361851 ENSP00000355265; ENSG00000228253 # ExpressionAtlas P03928 baseline and differential # FUNCTION ATP8_HUMAN Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(0) domain. Minor subunit located with subunit a in the membrane (By similarity). {ECO 0000250}. # GO_component GO:0000276 mitochondrial proton-transporting ATP synthase complex, coupling factor F(o); IEA:InterPro. # GO_component GO:0005743 mitochondrial inner membrane; TAS:Reactome. # GO_component GO:0005753 mitochondrial proton-transporting ATP synthase complex; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0015078 hydrogen ion transmembrane transporter activity; IEA:InterPro. # GO_function GO:0022857 transmembrane transporter activity; IC:UniProtKB. # GO_process GO:0006754 ATP biosynthetic process; TAS:Reactome. # GO_process GO:0042776 mitochondrial ATP synthesis coupled proton transport; IC:UniProtKB. # GO_process GO:0055093 response to hyperoxia; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0043234 protein complex # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006950 response to stress # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0044281 small molecule metabolic process # GOslim_process GO:0055085 transmembrane transport # Genevisible P03928 HS # HGNC HGNC:7415 MT-ATP8 # IntAct P03928 7 # InterPro IPR001421 ATP8_metazoa # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Brite ko01000 Enzymes # KEGG_Disease H01355 [Inherited metabolic disease; Mitochondrial disease] Kearns-Sayre Syndrome # KEGG_Disease H01369 [Inherited metabolic disease; Mitochondrial disease] Mitochondrial infantile bilateral striatal necrosis (MIBSN) # KEGG_Pathway ko00190 Oxidative phosphorylation # KEGG_Pathway ko05010 Alzheimer's disease # KEGG_Pathway ko05012 Parkinson's disease # KEGG_Pathway ko05016 Huntington's disease # MIM 516070 gene+phenotype # Organism ATP8_HUMAN Homo sapiens (Human) # Orphanet 155 Familial isolated hypertrophic cardiomyopathy # Orphanet 397750 Periodic paralysis with later-onset distal motor neuropathy # Orphanet 480 Kearns-Sayre syndrome # PIR A01062 PWHU8 # Pfam PF00895 ATP-synt_8 # Proteomes UP000005640 Mitochondrion # Reactome R-HSA-163210 Formation of ATP by chemiosmotic coupling # RecName ATP8_HUMAN ATP synthase protein 8 # RefSeq YP_003024030 NC_012920.1 # SIMILARITY Belongs to the ATPase protein 8 family. {ECO 0000305}. # SUBCELLULAR LOCATION ATP8_HUMAN Mitochondrion membrane; Single-pass membrane protein. # SUBUNIT F-type ATPases have 2 components, CF(1) - the catalytic core - and CF(0) - the membrane proton channel. Component of an ATP synthase complex composed of ATP5F1, ATP5G1, ATP5E, ATP5H, ATP5I, ATP5J, ATP5J2, MT-ATP6, MT-ATP8, ATP5A1, ATP5B, ATP5D, ATP5C1, ATP5O, ATP5L, USMG5 and MP68 (By similarity). {ECO 0000250}. # eggNOG ENOG410J587 Eukaryota # eggNOG ENOG411154N LUCA BLAST swissprot:ATP8_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ATP8_HUMAN COXPRESdb 4509 http://coxpresdb.jp/data/gene/4509.shtml DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1007/BF00206061 http://dx.doi.org/10.1007/BF00206061 DOI 10.1007/s00414-004-0427-6 http://dx.doi.org/10.1007/s00414-004-0427-6 DOI 10.1038/290457a0 http://dx.doi.org/10.1038/290457a0 DOI 10.1038/35047064 http://dx.doi.org/10.1038/35047064 DOI 10.1073/pnas.92.2.532 http://dx.doi.org/10.1073/pnas.92.2.532 DOI 10.1093/molbev/msg230 http://dx.doi.org/10.1093/molbev/msg230 DOI 10.1093/nar/26.4.967 http://dx.doi.org/10.1093/nar/26.4.967 DOI 10.1101/gr.686603 http://dx.doi.org/10.1101/gr.686603 DOI 10.1136/jmg.2008.063149 http://dx.doi.org/10.1136/jmg.2008.063149 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AF346963 http://www.ebi.ac.uk/ena/data/view/AF346963 EMBL AF346964 http://www.ebi.ac.uk/ena/data/view/AF346964 EMBL AF346965 http://www.ebi.ac.uk/ena/data/view/AF346965 EMBL AF346966 http://www.ebi.ac.uk/ena/data/view/AF346966 EMBL AF346967 http://www.ebi.ac.uk/ena/data/view/AF346967 EMBL AF346968 http://www.ebi.ac.uk/ena/data/view/AF346968 EMBL AF346969 http://www.ebi.ac.uk/ena/data/view/AF346969 EMBL AF346970 http://www.ebi.ac.uk/ena/data/view/AF346970 EMBL AF346971 http://www.ebi.ac.uk/ena/data/view/AF346971 EMBL AF346972 http://www.ebi.ac.uk/ena/data/view/AF346972 EMBL AF346973 http://www.ebi.ac.uk/ena/data/view/AF346973 EMBL AF346974 http://www.ebi.ac.uk/ena/data/view/AF346974 EMBL AF346975 http://www.ebi.ac.uk/ena/data/view/AF346975 EMBL AF346976 http://www.ebi.ac.uk/ena/data/view/AF346976 EMBL AF346977 http://www.ebi.ac.uk/ena/data/view/AF346977 EMBL AF346978 http://www.ebi.ac.uk/ena/data/view/AF346978 EMBL AF346979 http://www.ebi.ac.uk/ena/data/view/AF346979 EMBL AF346980 http://www.ebi.ac.uk/ena/data/view/AF346980 EMBL AF346981 http://www.ebi.ac.uk/ena/data/view/AF346981 EMBL AF346982 http://www.ebi.ac.uk/ena/data/view/AF346982 EMBL AF346983 http://www.ebi.ac.uk/ena/data/view/AF346983 EMBL AF346985 http://www.ebi.ac.uk/ena/data/view/AF346985 EMBL AF346986 http://www.ebi.ac.uk/ena/data/view/AF346986 EMBL AF346987 http://www.ebi.ac.uk/ena/data/view/AF346987 EMBL AF346988 http://www.ebi.ac.uk/ena/data/view/AF346988 EMBL AF346991 http://www.ebi.ac.uk/ena/data/view/AF346991 EMBL AF346992 http://www.ebi.ac.uk/ena/data/view/AF346992 EMBL AF346993 http://www.ebi.ac.uk/ena/data/view/AF346993 EMBL AF346994 http://www.ebi.ac.uk/ena/data/view/AF346994 EMBL AF346995 http://www.ebi.ac.uk/ena/data/view/AF346995 EMBL AF346996 http://www.ebi.ac.uk/ena/data/view/AF346996 EMBL AF346997 http://www.ebi.ac.uk/ena/data/view/AF346997 EMBL AF347000 http://www.ebi.ac.uk/ena/data/view/AF347000 EMBL AF347001 http://www.ebi.ac.uk/ena/data/view/AF347001 EMBL AF347002 http://www.ebi.ac.uk/ena/data/view/AF347002 EMBL AF347003 http://www.ebi.ac.uk/ena/data/view/AF347003 EMBL AF347004 http://www.ebi.ac.uk/ena/data/view/AF347004 EMBL AF347005 http://www.ebi.ac.uk/ena/data/view/AF347005 EMBL AF347006 http://www.ebi.ac.uk/ena/data/view/AF347006 EMBL AF347007 http://www.ebi.ac.uk/ena/data/view/AF347007 EMBL AF347008 http://www.ebi.ac.uk/ena/data/view/AF347008 EMBL AF347009 http://www.ebi.ac.uk/ena/data/view/AF347009 EMBL AF347011 http://www.ebi.ac.uk/ena/data/view/AF347011 EMBL AF347012 http://www.ebi.ac.uk/ena/data/view/AF347012 EMBL AF347013 http://www.ebi.ac.uk/ena/data/view/AF347013 EMBL AF347014 http://www.ebi.ac.uk/ena/data/view/AF347014 EMBL AF347015 http://www.ebi.ac.uk/ena/data/view/AF347015 EMBL AY289051 http://www.ebi.ac.uk/ena/data/view/AY289051 EMBL AY289052 http://www.ebi.ac.uk/ena/data/view/AY289052 EMBL AY289053 http://www.ebi.ac.uk/ena/data/view/AY289053 EMBL AY289056 http://www.ebi.ac.uk/ena/data/view/AY289056 EMBL AY289057 http://www.ebi.ac.uk/ena/data/view/AY289057 EMBL AY289058 http://www.ebi.ac.uk/ena/data/view/AY289058 EMBL AY289059 http://www.ebi.ac.uk/ena/data/view/AY289059 EMBL AY289060 http://www.ebi.ac.uk/ena/data/view/AY289060 EMBL AY289061 http://www.ebi.ac.uk/ena/data/view/AY289061 EMBL AY289062 http://www.ebi.ac.uk/ena/data/view/AY289062 EMBL AY289063 http://www.ebi.ac.uk/ena/data/view/AY289063 EMBL AY289064 http://www.ebi.ac.uk/ena/data/view/AY289064 EMBL AY289065 http://www.ebi.ac.uk/ena/data/view/AY289065 EMBL AY289066 http://www.ebi.ac.uk/ena/data/view/AY289066 EMBL AY289067 http://www.ebi.ac.uk/ena/data/view/AY289067 EMBL AY289068 http://www.ebi.ac.uk/ena/data/view/AY289068 EMBL AY289069 http://www.ebi.ac.uk/ena/data/view/AY289069 EMBL AY289070 http://www.ebi.ac.uk/ena/data/view/AY289070 EMBL AY289071 http://www.ebi.ac.uk/ena/data/view/AY289071 EMBL AY289072 http://www.ebi.ac.uk/ena/data/view/AY289072 EMBL AY289073 http://www.ebi.ac.uk/ena/data/view/AY289073 EMBL AY289074 http://www.ebi.ac.uk/ena/data/view/AY289074 EMBL AY289075 http://www.ebi.ac.uk/ena/data/view/AY289075 EMBL AY289076 http://www.ebi.ac.uk/ena/data/view/AY289076 EMBL AY289077 http://www.ebi.ac.uk/ena/data/view/AY289077 EMBL AY289078 http://www.ebi.ac.uk/ena/data/view/AY289078 EMBL AY289080 http://www.ebi.ac.uk/ena/data/view/AY289080 EMBL AY289081 http://www.ebi.ac.uk/ena/data/view/AY289081 EMBL AY289082 http://www.ebi.ac.uk/ena/data/view/AY289082 EMBL AY289083 http://www.ebi.ac.uk/ena/data/view/AY289083 EMBL AY289084 http://www.ebi.ac.uk/ena/data/view/AY289084 EMBL AY289085 http://www.ebi.ac.uk/ena/data/view/AY289085 EMBL AY289086 http://www.ebi.ac.uk/ena/data/view/AY289086 EMBL AY289087 http://www.ebi.ac.uk/ena/data/view/AY289087 EMBL AY289088 http://www.ebi.ac.uk/ena/data/view/AY289088 EMBL AY289089 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http://www.ebi.ac.uk/ena/data/view/AY495317 EMBL AY495318 http://www.ebi.ac.uk/ena/data/view/AY495318 EMBL AY495319 http://www.ebi.ac.uk/ena/data/view/AY495319 EMBL AY495320 http://www.ebi.ac.uk/ena/data/view/AY495320 EMBL AY495322 http://www.ebi.ac.uk/ena/data/view/AY495322 EMBL AY495323 http://www.ebi.ac.uk/ena/data/view/AY495323 EMBL AY495324 http://www.ebi.ac.uk/ena/data/view/AY495324 EMBL AY495325 http://www.ebi.ac.uk/ena/data/view/AY495325 EMBL AY495326 http://www.ebi.ac.uk/ena/data/view/AY495326 EMBL AY495327 http://www.ebi.ac.uk/ena/data/view/AY495327 EMBL AY495328 http://www.ebi.ac.uk/ena/data/view/AY495328 EMBL AY495329 http://www.ebi.ac.uk/ena/data/view/AY495329 EMBL AY495330 http://www.ebi.ac.uk/ena/data/view/AY495330 EMBL D38112 http://www.ebi.ac.uk/ena/data/view/D38112 EMBL J01415 http://www.ebi.ac.uk/ena/data/view/J01415 EMBL V00662 http://www.ebi.ac.uk/ena/data/view/V00662 Ensembl ENST00000361851 http://www.ensembl.org/id/ENST00000361851 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000276 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000276 GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0005753 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005753 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0015078 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015078 GO_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GO_process GO:0006754 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006754 GO_process GO:0042776 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042776 GO_process GO:0055093 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055093 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards MT-ATP8 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=MT-ATP8 GeneID 4509 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=4509 GeneTree ENSGT00390000008771 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000008771 H-InvDB HIX0028087 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0028087 HGNC HGNC:7415 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:7415 HOGENOM HOG000251628 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000251628&db=HOGENOM6 HOVERGEN HBG017400 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG017400&db=HOVERGEN HPA HPA053976 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA053976 InParanoid P03928 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P03928 IntAct P03928 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P03928* InterPro IPR001421 http://www.ebi.ac.uk/interpro/entry/IPR001421 Jabion 4509 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=4509 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00002 http://www.genome.jp/dbget-bin/www_bget?ko00002 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Disease H01355 http://www.genome.jp/dbget-bin/www_bget?H01355 KEGG_Disease H01369 http://www.genome.jp/dbget-bin/www_bget?H01369 KEGG_Gene hsa:4509 http://www.genome.jp/dbget-bin/www_bget?hsa:4509 KEGG_Orthology KO:K02125 http://www.genome.jp/dbget-bin/www_bget?KO:K02125 KEGG_Pathway ko00190 http://www.genome.jp/kegg-bin/show_pathway?ko00190 KEGG_Pathway ko05010 http://www.genome.jp/kegg-bin/show_pathway?ko05010 KEGG_Pathway ko05012 http://www.genome.jp/kegg-bin/show_pathway?ko05012 KEGG_Pathway ko05016 http://www.genome.jp/kegg-bin/show_pathway?ko05016 MIM 516070 http://www.ncbi.nlm.nih.gov/omim/516070 OMA LDTSTWF http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=LDTSTWF Orphanet 155 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=155 Orphanet 397750 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=397750 Orphanet 480 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=480 OrthoDB EOG091G1977 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G1977 PSORT swissprot:ATP8_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ATP8_HUMAN PSORT-B swissprot:ATP8_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ATP8_HUMAN PSORT2 swissprot:ATP8_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ATP8_HUMAN Pfam PF00895 http://pfam.xfam.org/family/PF00895 PharmGKB PA31222 http://www.pharmgkb.org/do/serve?objId=PA31222&objCls=Gene Phobius swissprot:ATP8_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ATP8_HUMAN PhylomeDB P03928 http://phylomedb.org/?seqid=P03928 ProteinModelPortal P03928 http://www.proteinmodelportal.org/query/uniprot/P03928 PubMed 11130070 http://www.ncbi.nlm.nih.gov/pubmed/11130070 PubMed 12840039 http://www.ncbi.nlm.nih.gov/pubmed/12840039 PubMed 12949126 http://www.ncbi.nlm.nih.gov/pubmed/12949126 PubMed 14760490 http://www.ncbi.nlm.nih.gov/pubmed/14760490 PubMed 1757091 http://www.ncbi.nlm.nih.gov/pubmed/1757091 PubMed 19188198 http://www.ncbi.nlm.nih.gov/pubmed/19188198 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 7219534 http://www.ncbi.nlm.nih.gov/pubmed/7219534 PubMed 7530363 http://www.ncbi.nlm.nih.gov/pubmed/7530363 PubMed 9461455 http://www.ncbi.nlm.nih.gov/pubmed/9461455 Reactome R-HSA-163210 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-163210 RefSeq YP_003024030 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=YP_003024030 STRING 9606.ENSP00000355265 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000355265&targetmode=cogs UniProtKB ATP8_HUMAN http://www.uniprot.org/uniprot/ATP8_HUMAN UniProtKB-AC P03928 http://www.uniprot.org/uniprot/P03928 charge swissprot:ATP8_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ATP8_HUMAN eggNOG ENOG410J587 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410J587 eggNOG ENOG411154N http://eggnogapi.embl.de/nog_data/html/tree/ENOG411154N epestfind swissprot:ATP8_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ATP8_HUMAN garnier swissprot:ATP8_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ATP8_HUMAN helixturnhelix swissprot:ATP8_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ATP8_HUMAN hmoment swissprot:ATP8_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ATP8_HUMAN iep swissprot:ATP8_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ATP8_HUMAN inforesidue swissprot:ATP8_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ATP8_HUMAN neXtProt NX_P03928 http://www.nextprot.org/db/entry/NX_P03928 octanol swissprot:ATP8_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ATP8_HUMAN pepcoil swissprot:ATP8_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ATP8_HUMAN pepdigest swissprot:ATP8_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ATP8_HUMAN pepinfo swissprot:ATP8_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ATP8_HUMAN pepnet swissprot:ATP8_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ATP8_HUMAN pepstats swissprot:ATP8_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ATP8_HUMAN pepwheel swissprot:ATP8_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ATP8_HUMAN pepwindow swissprot:ATP8_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ATP8_HUMAN sigcleave swissprot:ATP8_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ATP8_HUMAN ## Database ID URL or Descriptions # BioGrid 107252 397 # BioGrid 107256 38 # BioGrid 107259 32 # CDD cd00051 EFh; 2 # ChiTaRS CALM1 human # ChiTaRS CALM3 human # DISEASE CALM_HUMAN Long QT syndrome 14 (LQT14) [MIM 616247] A form of long QT syndrome, a heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. {ECO 0000269|PubMed 23388215, ECO 0000269|PubMed 24076290}. Note=The disease is caused by mutations affecting the gene represented in this entry. Mutations in CALM1 are the cause of LQT14. # DISEASE CALM_HUMAN Long QT syndrome 15 (LQT15) [MIM 616249] A form of long QT syndrome, a heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. {ECO 0000269|PubMed 23388215, ECO 0000269|PubMed 24917665}. Note=The disease is caused by mutations affecting the gene represented in this entry. Mutations in CALM2 are the cause of LQT15. # DISEASE CALM_HUMAN Ventricular tachycardia, catecholaminergic polymorphic, 4 (CPVT4) [MIM 614916] An arrhythmogenic disorder characterized by stress-induced, bidirectional ventricular tachycardia that may degenerate into cardiac arrest and cause sudden death. Patients present with recurrent syncope, seizures, or sudden death after physical activity or emotional stress. {ECO 0000269|PubMed 23040497}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DrugBank DB00477 Chlorpromazine # DrugBank DB00527 Cinchocaine # DrugBank DB00622 Nicardipine # DrugBank DB00623 Fluphenazine # DrugBank DB00753 Isoflurane # DrugBank DB00831 Trifluoperazine # DrugBank DB00836 Loperamide # DrugBank DB00850 Perphenazine # DrugBank DB00925 Phenoxybenzamine # DrugBank DB01023 Felodipine # DrugBank DB01065 Melatonin # DrugBank DB01069 Promethazine # DrugBank DB01100 Pimozide # DrugBank DB01115 Nifedipine # DrugBank DB01244 Bepridil # DrugBank DB01429 Aprindine # DrugBank DB04841 Flunarizine # Ensembl ENST00000272298 ENSP00000272298; ENSG00000143933 # Ensembl ENST00000291295 ENSP00000291295; ENSG00000160014 # Ensembl ENST00000356978 ENSP00000349467; ENSG00000198668 # Ensembl ENST00000596362 ENSP00000472141; ENSG00000160014 # ExpressionAtlas P62158 baseline and differential # FUNCTION CALM_HUMAN Calmodulin mediates the control of a large number of enzymes, ion channels, aquaporins and other proteins by Ca(2+). Among the enzymes to be stimulated by the calmodulin-Ca(2+) complex are a number of protein kinases and phosphatases. Together with CCP110 and centrin, is involved in a genetic pathway that regulates the centrosome cycle and progression through cytokinesis. {ECO 0000269|PubMed 16760425, ECO 0000269|PubMed 23893133}. # GO_component GO:0000922 spindle pole; IDA:UniProtKB. # GO_component GO:0005576 extracellular region; TAS:Reactome. # GO_component GO:0005634 nucleus; IDA:UniProtKB. # GO_component GO:0005654 nucleoplasm; TAS:Reactome. # GO_component GO:0005737 cytoplasm; TAS:UniProtKB. # GO_component GO:0005813 centrosome; IDA:UniProtKB. # GO_component GO:0005829 cytosol; TAS:Reactome. # GO_component GO:0005876 spindle microtubule; IDA:UniProtKB. # GO_component GO:0005886 plasma membrane; TAS:UniProtKB. # GO_component GO:0030017 sarcomere; IDA:BHF-UCL. # GO_component GO:0031982 vesicle; IDA:UniProtKB. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0005088 Ras guanyl-nucleotide exchange factor activity; TAS:Reactome. # GO_function GO:0005509 calcium ion binding; IDA:BHF-UCL. # GO_function GO:0008440 inositol-1,4,5-trisphosphate 3-kinase activity; TAS:Reactome. # GO_function GO:0015276 ligand-gated ion channel activity; TAS:Reactome. # GO_function GO:0019901 protein kinase binding; IPI:BHF-UCL. # GO_function GO:0019904 protein domain specific binding; IPI:UniProtKB. # GO_function GO:0031432 titin binding; IPI:BHF-UCL. # GO_function GO:0031996 thioesterase binding; IPI:UniProtKB. # GO_function GO:0031997 N-terminal myristoylation domain binding; IPI:UniProtKB. # GO_function GO:0043274 phospholipase binding; IPI:BHF-UCL. # GO_function GO:0043539 protein serine/threonine kinase activator activity; TAS:BHF-UCL. # GO_function GO:0044325 ion channel binding; IPI:BHF-UCL. # GO_function GO:0072542 protein phosphatase activator activity; IDA:BHF-UCL. # GO_process GO:0000165 MAPK cascade; TAS:Reactome. # GO_process GO:0002027 regulation of heart rate; IMP:BHF-UCL. # GO_process GO:0002576 platelet degranulation; TAS:Reactome. # GO_process GO:0005513 detection of calcium ion; IMP:BHF-UCL. # GO_process GO:0005980 glycogen catabolic process; TAS:Reactome. # GO_process GO:0006936 muscle contraction; TAS:Reactome. # GO_process GO:0007186 G-protein coupled receptor signaling pathway; TAS:UniProtKB. # GO_process GO:0007223 Wnt signaling pathway, calcium modulating pathway; TAS:Reactome. # GO_process GO:0010800 positive regulation of peptidyl-threonine phosphorylation; TAS:BHF-UCL. # GO_process GO:0010801 negative regulation of peptidyl-threonine phosphorylation; TAS:BHF-UCL. # GO_process GO:0010880 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum; IDA:BHF-UCL. # GO_process GO:0010881 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion; IC:BHF-UCL. # GO_process GO:0021762 substantia nigra development; IEP:UniProtKB. # GO_process GO:0022400 regulation of rhodopsin mediated signaling pathway; TAS:Reactome. # GO_process GO:0030801 positive regulation of cyclic nucleotide metabolic process; IDA:BHF-UCL. # GO_process GO:0031954 positive regulation of protein autophosphorylation; TAS:BHF-UCL. # GO_process GO:0032465 regulation of cytokinesis; IMP:UniProtKB. # GO_process GO:0032516 positive regulation of phosphoprotein phosphatase activity; IDA:BHF-UCL. # GO_process GO:0035307 positive regulation of protein dephosphorylation; IDA:BHF-UCL. # GO_process GO:0038095 Fc-epsilon receptor signaling pathway; TAS:Reactome. # GO_process GO:0043647 inositol phosphate metabolic process; TAS:Reactome. # GO_process GO:0050999 regulation of nitric-oxide synthase activity; TAS:Reactome. # GO_process GO:0051343 positive regulation of cyclic-nucleotide phosphodiesterase activity; IDA:BHF-UCL. # GO_process GO:0051592 response to calcium ion; IDA:BHF-UCL. # GO_process GO:0055117 regulation of cardiac muscle contraction; IMP:BHF-UCL. # GO_process GO:0060315 negative regulation of ryanodine-sensitive calcium-release channel activity; ISS:BHF-UCL. # GO_process GO:0060316 positive regulation of ryanodine-sensitive calcium-release channel activity; IDA:BHF-UCL. # GO_process GO:0071902 positive regulation of protein serine/threonine kinase activity; TAS:BHF-UCL. # GO_process GO:1901844 regulation of cell communication by electrical coupling involved in cardiac conduction; IC:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005576 extracellular region # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005654 nucleoplasm # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005815 microtubule organizing center # GOslim_component GO:0005829 cytosol # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0008092 cytoskeletal protein binding # GOslim_function GO:0016301 kinase activity # GOslim_function GO:0019899 enzyme binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0030234 enzyme regulator activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0005975 carbohydrate metabolic process # GOslim_process GO:0006091 generation of precursor metabolites and energy # GOslim_process GO:0006464 cellular protein modification process # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0009056 catabolic process # GOslim_process GO:0016192 vesicle-mediated transport # GOslim_process GO:0044281 small molecule metabolic process # GOslim_process GO:0048856 anatomical structure development # Gene3D 1.10.238.10 -; 2. # Genevisible P62158 HS # HGNC HGNC:1442 CALM1 # HGNC HGNC:1445 CALM2 # HGNC HGNC:1449 CALM3 # INTERACTION CALM_HUMAN Q9Z305 - (xeno); NbExp=2; IntAct=EBI-397435, EBI-9084208; P29274 ADORA2A; NbExp=3; IntAct=EBI-397435, EBI-2902702; P49407 ARRB1; NbExp=3; IntAct=EBI-397435, EBI-743313; P32121 ARRB2; NbExp=3; IntAct=EBI-397435, EBI-714559; Q8NCR3 C11orf65; NbExp=9; IntAct=EBI-397435, EBI-744790; Q13936 CACNA1C; NbExp=12; IntAct=EBI-397435, EBI-1038838; O43303 CCP110; NbExp=14; IntAct=EBI-397435, EBI-1566217; O15078 CEP290; NbExp=5; IntAct=EBI-397435, EBI-1811944; P40136 cya (xeno); NbExp=8; IntAct=EBI-397435, EBI-457011; P53355 DAPK1; NbExp=6; IntAct=EBI-397435, EBI-358616; P00533 EGFR; NbExp=4; IntAct=EBI-397435, EBI-297353; P25445 FAS; NbExp=4; IntAct=EBI-397435, EBI-494743; Q15051 IQCB1; NbExp=7; IntAct=EBI-397435, EBI-2805823; Q15051-2 IQCB1; NbExp=5; IntAct=EBI-397435, EBI-11944935; O95259 KCNH1; NbExp=4; IntAct=EBI-397435, EBI-2909270; O95259-2 KCNH1; NbExp=8; IntAct=EBI-397435, EBI-9836801; A0A087WXN0 KIAA1683; NbExp=6; IntAct=EBI-397435, EBI-12150263; A0JP07 KIAA1683; NbExp=3; IntAct=EBI-397435, EBI-10171456; Q9H0B3 KIAA1683; NbExp=4; IntAct=EBI-397435, EBI-745878; P26645 Marcks (xeno); NbExp=2; IntAct=EBI-397435, EBI-911805; Q9HD67 MYO10; NbExp=2; IntAct=EBI-397435, EBI-307061; Q96PM5 RCHY1; NbExp=2; IntAct=EBI-397435, EBI-947779; Q14524 SCN5A; NbExp=2; IntAct=EBI-397435, EBI-726858; Q86TI0 TBC1D1; NbExp=4; IntAct=EBI-397435, EBI-1644036; Q8WZ42 TTN; NbExp=2; IntAct=EBI-397435, EBI-681210; P63104 YWHAZ; NbExp=2; IntAct=EBI-397435, EBI-347088; # IntAct P62158 241 # InterPro IPR002048 EF_hand_dom # InterPro IPR011992 EF-hand-dom_pair # InterPro IPR018247 EF_Hand_1_Ca_BS # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko03036 Chromosome # KEGG_Pathway ko04020 Calcium signaling pathway # KEGG_Pathway ko04070 Phosphatidylinositol signaling system # KEGG_Pathway ko04114 Oocyte meiosis # KEGG_Pathway ko04270 Vascular smooth muscle contraction # KEGG_Pathway ko04626 Plant-pathogen interaction # KEGG_Pathway ko04713 Circadian entrainment # KEGG_Pathway ko04720 Long-term potentiation # KEGG_Pathway ko04722 Neurotrophin signaling pathway # KEGG_Pathway ko04728 Dopaminergic synapse # KEGG_Pathway ko04740 Olfactory transduction # KEGG_Pathway ko04744 Phototransduction # KEGG_Pathway ko04745 Phototransduction - fly # KEGG_Pathway ko04910 Insulin signaling pathway # KEGG_Pathway ko04912 GnRH signaling pathway # KEGG_Pathway ko04916 Melanogenesis # KEGG_Pathway ko04970 Salivary secretion # KEGG_Pathway ko04971 Gastric acid secretion # KEGG_Pathway ko05010 Alzheimer's disease # KEGG_Pathway ko05031 Amphetamine addiction # KEGG_Pathway ko05034 Alcoholism # KEGG_Pathway ko05133 Pertussis # KEGG_Pathway ko05152 Tuberculosis # KEGG_Pathway ko05214 Glioma # MIM 114180 gene # MIM 114182 gene # MIM 114183 gene # MIM 614916 phenotype # MIM 616247 phenotype # MIM 616249 phenotype # MISCELLANEOUS CALM_HUMAN This protein has four functional calcium-binding sites. # Organism CALM_HUMAN Homo sapiens (Human) # Orphanet 3286 Catecholaminergic polymorphic ventricular tachycardia # PDB 1AJI Model; -; A=5-148 # PDB 1CDL X-ray; 2.00 A; A/B/C/D=2-148 # PDB 1CLL X-ray; 1.70 A; A=2-149 # PDB 1CTR X-ray; 2.45 A; A=2-149 # PDB 1IWQ X-ray; 2.00 A; A=2-149 # PDB 1J7O NMR; -; A=2-77 # PDB 1J7P NMR; -; A=83-149 # PDB 1K90 X-ray; 2.75 A; D/E/F=2-149 # PDB 1K93 X-ray; 2.95 A; D/E/F=6-149 # PDB 1L7Z X-ray; 2.30 A; A=2-149 # PDB 1LVC X-ray; 3.60 A; D/E/F=1-149 # PDB 1NKF NMR; -; A=99-105 # PDB 1PK0 X-ray; 3.30 A; D/E/F=2-148 # PDB 1S26 X-ray; 3.00 A; D/E/F=2-149 # PDB 1SK6 X-ray; 3.20 A; D/E/F=2-149 # PDB 1SW8 NMR; -; A=2-80 # PDB 1WRZ X-ray; 2.00 A; A=1-149 # PDB 1XFU X-ray; 3.35 A; O/P/Q/R/S/T=1-149 # PDB 1XFV X-ray; 3.35 A; O/P/Q/R/S/T=1-149 # PDB 1XFW X-ray; 3.40 A; O/P/Q/R/S/T=1-149 # PDB 1XFX X-ray; 3.20 A; O/P/Q/R/S/T=1-149 # PDB 1XFY X-ray; 3.30 A; O/P/Q/R/S/T=1-149 # PDB 1XFZ X-ray; 3.25 A; O/P/Q/R/S/T=1-149 # PDB 1Y6W X-ray; 2.40 A; A=2-149 # PDB 1YR5 X-ray; 1.70 A; A=2-149 # PDB 1YRT X-ray; 2.10 A; B=76-149 # PDB 1YRU X-ray; 2.50 A; B=76-149 # PDB 1ZOT X-ray; 2.20 A; B=80-148 # PDB 1ZUZ X-ray; 1.91 A; A=1-149 # PDB 2BE6 X-ray; 2.00 A; A/B/C=1-149 # PDB 2F3Y X-ray; 1.45 A; A=2-149 # PDB 2F3Z X-ray; 1.60 A; A=2-149 # PDB 2HF5 NMR; -; A=47-114 # PDB 2I08 X-ray; 2.00 A; A=3-79 # PDB 2JZI NMR; -; A=2-149 # PDB 2K0E NMR; -; A=2-149 # PDB 2K0F NMR; -; A=2-149 # PDB 2K0J NMR; -; A=3-149 # PDB 2K61 NMR; -; A=2-149 # PDB 2KNE NMR; -; A=2-149 # PDB 2KUG NMR; -; A=2-77 # PDB 2KUH NMR; -; A=83-149 # PDB 2L53 NMR; -; A=2-149 # PDB 2L7L NMR; -; A=2-149 # PDB 2LGF NMR; -; A=3-149 # PDB 2LL6 NMR; -; A=2-149 # PDB 2LL7 NMR; -; A=2-149 # PDB 2LQC NMR; -; A=2-78 # PDB 2LQP NMR; -; A=79-149 # PDB 2LV6 Other; -; A=2-149 # PDB 2M0J NMR; -; A=2-149 # PDB 2M0K NMR; -; A=2-149 # PDB 2M55 NMR; -; A=2-149 # PDB 2MG5 NMR; -; A=2-149 # PDB 2N27 NMR; -; A=2-149 # PDB 2N6A NMR; -; A=6-147 # PDB 2N8J NMR; -; A=2-149 # PDB 2R28 X-ray; 1.86 A; A/B=1-149 # PDB 2V01 X-ray; 2.15 A; A=2-149 # PDB 2V02 X-ray; 2.20 A; A=2-149 # PDB 2VAY X-ray; 1.94 A; A=4-149 # PDB 2W73 X-ray; 1.45 A; A/B/E/F=1-149 # PDB 2WEL X-ray; 1.90 A; D=1-149 # PDB 2X0G X-ray; 2.20 A; B=2-149 # PDB 2Y4V X-ray; 1.80 A; A=1-149 # PDB 3BYA X-ray; 1.85 A; A=2-149 # PDB 3DVE X-ray; 2.35 A; A=2-149 # PDB 3DVJ X-ray; 2.80 A; A=2-149 # PDB 3DVK X-ray; 2.30 A; A=2-149 # PDB 3DVM X-ray; 2.60 A; A=2-149 # PDB 3EWT X-ray; 2.40 A; A=2-149 # PDB 3EWV X-ray; 2.60 A; A=2-149 # PDB 3G43 X-ray; 2.10 A; A/B/C/D=2-149 # PDB 3HR4 X-ray; 2.50 A; B/D/F/H=1-149 # PDB 3J41 EM; 25.0 A; E/F=1-149 # PDB 3O77 X-ray; 2.35 A; A=1-149 # PDB 3O78 X-ray; 2.60 A; A/B=1-149 # PDB 3OXQ X-ray; 2.55 A; A/B/C/D=1-149 # PDB 3SUI X-ray; 1.95 A; A=1-149 # PDB 3UCT X-ray; 1.90 A; A/B=2-80 # PDB 3UCW X-ray; 1.76 A; A/B/C/D=2-80 # PDB 3UCY X-ray; 1.80 A; A=2-80 # PDB 4BW7 X-ray; 1.81 A; A/C=1-149 # PDB 4BW8 X-ray; 1.80 A; A/B=1-149 # PDB 4BYF X-ray; 2.74 A; B/D=1-149 # PDB 4DCK X-ray; 2.20 A; B=1-149 # PDB 4DJC X-ray; 1.35 A; A=1-149 # PDB 4GOW X-ray; 2.60 A; D=4-147 # PDB 4JPZ X-ray; 3.02 A; C/I=1-149 # PDB 4JQ0 X-ray; 3.84 A; C=1-149 # PDB 4L79 X-ray; 2.30 A; B=1-149 # PDB 4LZX X-ray; 1.50 A; A=2-149 # PDB 4M1L X-ray; 2.10 A; A=2-149 # PDB 4OVN X-ray; 2.80 A; A/B/C/D/E=1-149 # PDB 4Q57 X-ray; 1.80 A; A=10-74 # PDB 4Q5U X-ray; 1.95 A; A=1-149 # PDB 4UMO X-ray; 3.00 A; C/D=1-149 # PDB 4UPU X-ray; 2.34 A; A=2-149 # PDB 4V0C X-ray; 2.86 A; C/D=1-149 # PDB 5COC X-ray; 2.67 A; A=5-78 # PDB 5DOW X-ray; 1.70 A; A/C/E/G=2-149 # PDB 5GGM NMR; -; A=2-149 # PDB 5I0I X-ray; 3.15 A; C/E=3-147, G=84-126, I=84-147 # PDB 5J03 X-ray; 2.00 A; B=1-149 # PDB 5J8H NMR; -; A=2-149 # PDB 5K7L EM; 3.78 A; B=1-149 # PDB 5K8Q X-ray; 1.74 A; A=1-149 # PIR S48728 MCHU # PROSITE PS00018 EF_HAND_1; 4 # PROSITE PS50222 EF_HAND_2; 4 # PTM CALM_HUMAN Phosphorylation results in a decreased activity. {ECO 0000250}. # PTM CALM_HUMAN Ubiquitination results in a strongly decreased activity. {ECO 0000250}. # Pfam PF13499 EF-hand_7; 2 # Proteomes UP000005640 Chromosome 14 # Proteomes UP000005640 Chromosome 19 # Proteomes UP000005640 Chromosome 2 # Reactome R-HSA-111932 CaMK IV-mediated phosphorylation of CREB # Reactome R-HSA-111933 Calmodulin induced events # Reactome R-HSA-111957 Cam-PDE 1 activation # Reactome R-HSA-111997 CaM pathway # Reactome R-HSA-114608 Platelet degranulation # Reactome R-HSA-1445148 Translocation of GLUT4 to the plasma membrane # Reactome R-HSA-1474151 Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation # Reactome R-HSA-163615 PKA activation # Reactome R-HSA-180024 DARPP-32 events # Reactome R-HSA-1855204 Synthesis of IP3 and IP4 in the cytosol # Reactome R-HSA-203615 eNOS activation # Reactome R-HSA-2514859 Inactivation, recovery and regulation of the phototransduction cascade # Reactome R-HSA-2672351 Stimuli-sensing channels # Reactome R-HSA-2871809 FCERI mediated Ca+2 mobilization # Reactome R-HSA-4086398 Ca2+ pathway # Reactome R-HSA-418359 Reduction of cytosolic Ca++ levels # Reactome R-HSA-425561 Sodium/Calcium exchangers # Reactome R-HSA-442717 CREB phosphorylation through the activation of CaMKK # Reactome R-HSA-442729 CREB phosphorylation through the activation of CaMKII # Reactome R-HSA-442745 Activation of CaMK IV # Reactome R-HSA-442982 Ras activation uopn Ca2+ infux through NMDA receptor # Reactome R-HSA-445355 Smooth Muscle Contraction # Reactome R-HSA-451308 Activation of Ca-permeable Kainate Receptor # Reactome R-HSA-5210891 Uptake and function of anthrax toxins # Reactome R-HSA-5218920 VEGFR2 mediated vascular permeability # Reactome R-HSA-5218921 VEGFR2 mediated cell proliferation # Reactome R-HSA-5576892 Phase 0 - rapid depolarisation # Reactome R-HSA-5578775 Ion homeostasis # Reactome R-HSA-5607763 CLEC7A (Dectin-1) induces NFAT activation # Reactome R-HSA-5626467 RHO GTPases activate IQGAPs # Reactome R-HSA-5627123 RHO GTPases activate PAKs # Reactome R-HSA-5673001 RAF/MAP kinase cascade # Reactome R-HSA-70221 Glycogen breakdown (glycogenolysis) # Reactome R-HSA-936837 Ion transport by P-type ATPases # Reactome R-HSA-983695 Antigen activates B Cell Receptor (BCR) leading to generation of second messengers # RecName CALM_HUMAN Calmodulin # RefSeq NP_001292553 NM_001305624.1 # RefSeq NP_001292554 NM_001305625.1 # RefSeq NP_001292555 NM_001305626.1 # RefSeq NP_001316851 NM_001329922.1 # RefSeq NP_001316852 NM_001329923.1 # RefSeq NP_001316853 NM_001329924.1 # RefSeq NP_001316854 NM_001329925.1 # RefSeq NP_001316855 NM_001329926.1 # RefSeq NP_001734 NM_001743.5 # RefSeq NP_005175 NM_005184.3 # RefSeq NP_008819 NM_006888.4 # SEQUENCE CAUTION Sequence=CAA36839.1; Type=Erroneous gene model prediction; Evidence={ECO 0000305}; # SIMILARITY Belongs to the calmodulin family. {ECO 0000305}. # SIMILARITY Contains 4 EF-hand domains. {ECO:0000255|PROSITE- ProRule PRU00448}. # SMART SM00054 EFh; 4 # SUBCELLULAR LOCATION CALM_HUMAN Cytoplasm, cytoskeleton, spindle {ECO 0000269|PubMed 16760425}. Cytoplasm, cytoskeleton, spindle pole {ECO 0000269|PubMed 16760425}. Note=Distributed throughout the cell during interphase, but during mitosis becomes dramatically localized to the spindle poles and the spindle microtubules. # SUBUNIT CALM_HUMAN Interacts with MYO1C, MYO5A and RRAD. Interacts with MYO10 (By similarity). Interacts with CEP97, CCP110, TTN/titin and SRY (PubMed 9804419, PubMed 12871148, PubMed 15746192, PubMed 16760425, PubMed 17719545). Interacts with USP6; the interaction is calcium dependent (PubMed 16127172). Interacts with CDK5RAP2 (PubMed 20466722). Interacts with SCN5A (PubMed 21167176). Interacts with RYR1 and RYR2 (PubMed 18650434). Interacts with FCHO1 (PubMed 22484487). Interacts with MIP in a 1 2 stoichiometry; the interaction with the cytoplasmic domains from two MIP subunits promotes MIP water channel closure (PubMed 23893133). Interacts with ORAI1; this may play a role in the regulation of ORAI1-mediated calcium transport (By similarity). Interacts with IQCF1 (By similarity). Interacts with SYT7 (By similarity). Interacts with CEACAM1 (via cytoplasmic domain); this interaction is in a calcium dependent manner and reduces homophilic cell adhesion through dissociation of dimer (By similarity). {ECO 0000250|UniProtKB P62157, ECO 0000250|UniProtKB P62161, ECO 0000250|UniProtKB P62204, ECO 0000269|PubMed 12485993, ECO 0000269|PubMed 12577052, ECO 0000269|PubMed 12871148, ECO 0000269|PubMed 15719022, ECO 0000269|PubMed 15746192, ECO 0000269|PubMed 16127172, ECO 0000269|PubMed 16299511, ECO 0000269|PubMed 16760425, ECO 0000269|PubMed 17719545, ECO 0000269|PubMed 18650434, ECO 0000269|PubMed 20466722, ECO 0000269|PubMed 21167176, ECO 0000269|PubMed 22484487, ECO 0000269|PubMed 23109337, ECO 0000269|PubMed 23893133, ECO 0000269|PubMed 9804419}. # SUPFAM SSF47473 SSF47473 # TCDB 8.A.82.1 the calmodulin calcium binding protein (calmodulin) family # UCSC uc001xyl human # WEB RESOURCE CALM_HUMAN Name=Protein Spotlight; Note=A question of length - Issue 105 of May 2009; URL="http //web.expasy.org/spotlight/back_issues/105"; # eggNOG COG5126 LUCA # eggNOG KOG0027 Eukaryota BLAST swissprot:CALM_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CALM_HUMAN BioCyc MetaCyc:ENSG00000143933-MONOMER http://biocyc.org/getid?id=MetaCyc:ENSG00000143933-MONOMER BioCyc ZFISH:ENSG00000143933-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000143933-MONOMER COXPRESdb 801 http://coxpresdb.jp/data/gene/801.shtml COXPRESdb 805 http://coxpresdb.jp/data/gene/805.shtml COXPRESdb 808 http://coxpresdb.jp/data/gene/808.shtml CleanEx HS_CALM1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CALM1 CleanEx HS_CALM2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CALM2 DIP DIP-31794N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-31794N DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1016/0022-2836(92)90324-D http://dx.doi.org/10.1016/0022-2836(92)90324-D DOI 10.1016/0167-4781(90)90203-E http://dx.doi.org/10.1016/0167-4781(90)90203-E DOI 10.1016/S0143-4160(98)90028-8 http://dx.doi.org/10.1016/S0143-4160(98)90028-8 DOI 10.1016/j.ajhg.2012.08.015 http://dx.doi.org/10.1016/j.ajhg.2012.08.015 DOI 10.1016/j.cell.2007.06.027 http://dx.doi.org/10.1016/j.cell.2007.06.027 DOI 10.1016/j.jacc.2013.07.091 http://dx.doi.org/10.1016/j.jacc.2013.07.091 DOI 10.1016/j.jmb.2010.11.046 http://dx.doi.org/10.1016/j.jmb.2010.11.046 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/ac9004309 http://dx.doi.org/10.1021/ac9004309 DOI 10.1021/bi00255a006 http://dx.doi.org/10.1021/bi00255a006 DOI 10.1021/bi00539a041 http://dx.doi.org/10.1021/bi00539a041 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/27603 http://dx.doi.org/10.1038/27603 DOI 10.1038/415396a http://dx.doi.org/10.1038/415396a DOI 10.1038/nature01348 http://dx.doi.org/10.1038/nature01348 DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1038/nbt1046 http://dx.doi.org/10.1038/nbt1046 DOI 10.1038/ncb2473 http://dx.doi.org/10.1038/ncb2473 DOI 10.1038/nsb1101-990 http://dx.doi.org/10.1038/nsb1101-990 DOI 10.1038/nsb900 http://dx.doi.org/10.1038/nsb900 DOI 10.1038/nsmb.2630 http://dx.doi.org/10.1038/nsmb.2630 DOI 10.1038/nsmb1027 http://dx.doi.org/10.1038/nsmb1027 DOI 10.1038/sj.emboj.7600574 http://dx.doi.org/10.1038/sj.emboj.7600574 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1073/pnas.1210303109 http://dx.doi.org/10.1073/pnas.1210303109 DOI 10.1073/pnas.96.3.903 http://dx.doi.org/10.1073/pnas.96.3.903 DOI 10.1074/jbc.M110.105965 http://dx.doi.org/10.1074/jbc.M110.105965 DOI 10.1074/jbc.M112.380964 http://dx.doi.org/10.1074/jbc.M112.380964 DOI 10.1074/jbc.M505220200 http://dx.doi.org/10.1074/jbc.M505220200 DOI 10.1074/jbc.M804432200 http://dx.doi.org/10.1074/jbc.M804432200 DOI 10.1074/mcp.M111.015131 http://dx.doi.org/10.1074/mcp.M111.015131 DOI 10.1074/mcp.O113.027870 http://dx.doi.org/10.1074/mcp.O113.027870 DOI 10.1091/mbc.E06-04-0371 http://dx.doi.org/10.1091/mbc.E06-04-0371 DOI 10.1093/emboj/cdf681 http://dx.doi.org/10.1093/emboj/cdf681 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1432-1033.1994.00071.x http://dx.doi.org/10.1111/j.1432-1033.1994.00071.x DOI 10.1126/science.1175371 http://dx.doi.org/10.1126/science.1175371 DOI 10.1126/scisignal.2000007 http://dx.doi.org/10.1126/scisignal.2000007 DOI 10.1126/scisignal.2001570 http://dx.doi.org/10.1126/scisignal.2001570 DOI 10.1161/CIRCGENETICS.113.000459 http://dx.doi.org/10.1161/CIRCGENETICS.113.000459 DOI 10.1161/CIRCULATIONAHA.112.001216 http://dx.doi.org/10.1161/CIRCULATIONAHA.112.001216 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DOI 10.1210/me.2004-0334 http://dx.doi.org/10.1210/me.2004-0334 DOI 10.2174/0929866033479004 http://dx.doi.org/10.2174/0929866033479004 DrugBank DB00477 http://www.drugbank.ca/drugs/DB00477 DrugBank DB00527 http://www.drugbank.ca/drugs/DB00527 DrugBank DB00622 http://www.drugbank.ca/drugs/DB00622 DrugBank DB00623 http://www.drugbank.ca/drugs/DB00623 DrugBank DB00753 http://www.drugbank.ca/drugs/DB00753 DrugBank DB00831 http://www.drugbank.ca/drugs/DB00831 DrugBank DB00836 http://www.drugbank.ca/drugs/DB00836 DrugBank DB00850 http://www.drugbank.ca/drugs/DB00850 DrugBank DB00925 http://www.drugbank.ca/drugs/DB00925 DrugBank DB01023 http://www.drugbank.ca/drugs/DB01023 DrugBank DB01065 http://www.drugbank.ca/drugs/DB01065 DrugBank DB01069 http://www.drugbank.ca/drugs/DB01069 DrugBank DB01100 http://www.drugbank.ca/drugs/DB01100 DrugBank DB01115 http://www.drugbank.ca/drugs/DB01115 DrugBank DB01244 http://www.drugbank.ca/drugs/DB01244 DrugBank DB01429 http://www.drugbank.ca/drugs/DB01429 DrugBank DB04841 http://www.drugbank.ca/drugs/DB04841 EMBL AC006536 http://www.ebi.ac.uk/ena/data/view/AC006536 EMBL AC073283 http://www.ebi.ac.uk/ena/data/view/AC073283 EMBL BC000454 http://www.ebi.ac.uk/ena/data/view/BC000454 EMBL BC003354 http://www.ebi.ac.uk/ena/data/view/BC003354 EMBL BC005137 http://www.ebi.ac.uk/ena/data/view/BC005137 EMBL BC006464 http://www.ebi.ac.uk/ena/data/view/BC006464 EMBL BC008437 http://www.ebi.ac.uk/ena/data/view/BC008437 EMBL BC008597 http://www.ebi.ac.uk/ena/data/view/BC008597 EMBL BC011834 http://www.ebi.ac.uk/ena/data/view/BC011834 EMBL BC017385 http://www.ebi.ac.uk/ena/data/view/BC017385 EMBL BC018677 http://www.ebi.ac.uk/ena/data/view/BC018677 EMBL BC026065 http://www.ebi.ac.uk/ena/data/view/BC026065 EMBL BC047523 http://www.ebi.ac.uk/ena/data/view/BC047523 EMBL BT006818 http://www.ebi.ac.uk/ena/data/view/BT006818 EMBL BT006855 http://www.ebi.ac.uk/ena/data/view/BT006855 EMBL BT009916 http://www.ebi.ac.uk/ena/data/view/BT009916 EMBL CR541990 http://www.ebi.ac.uk/ena/data/view/CR541990 EMBL CR542021 http://www.ebi.ac.uk/ena/data/view/CR542021 EMBL D45887 http://www.ebi.ac.uk/ena/data/view/D45887 EMBL J04046 http://www.ebi.ac.uk/ena/data/view/J04046 EMBL M19311 http://www.ebi.ac.uk/ena/data/view/M19311 EMBL M27319 http://www.ebi.ac.uk/ena/data/view/M27319 EMBL U11886 http://www.ebi.ac.uk/ena/data/view/U11886 EMBL U12022 http://www.ebi.ac.uk/ena/data/view/U12022 EMBL U94725 http://www.ebi.ac.uk/ena/data/view/U94725 EMBL U94726 http://www.ebi.ac.uk/ena/data/view/U94726 EMBL U94728 http://www.ebi.ac.uk/ena/data/view/U94728 EMBL X52606 http://www.ebi.ac.uk/ena/data/view/X52606 EMBL X52607 http://www.ebi.ac.uk/ena/data/view/X52607 EMBL X52608 http://www.ebi.ac.uk/ena/data/view/X52608 Ensembl ENST00000272298 http://www.ensembl.org/id/ENST00000272298 Ensembl ENST00000291295 http://www.ensembl.org/id/ENST00000291295 Ensembl ENST00000356978 http://www.ensembl.org/id/ENST00000356978 Ensembl ENST00000596362 http://www.ensembl.org/id/ENST00000596362 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000922 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000922 GO_component GO:0005576 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005576 GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005813 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0005876 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005876 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0030017 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030017 GO_component GO:0031982 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031982 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0005088 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005088 GO_function GO:0005509 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005509 GO_function GO:0008440 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008440 GO_function GO:0015276 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015276 GO_function GO:0019901 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019901 GO_function GO:0019904 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019904 GO_function GO:0031432 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031432 GO_function GO:0031996 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031996 GO_function GO:0031997 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031997 GO_function GO:0043274 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043274 GO_function GO:0043539 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043539 GO_function GO:0044325 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044325 GO_function GO:0072542 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0072542 GO_process GO:0000165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000165 GO_process GO:0002027 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002027 GO_process GO:0002576 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002576 GO_process GO:0005513 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005513 GO_process GO:0005980 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005980 GO_process GO:0006936 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006936 GO_process GO:0007186 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007186 GO_process GO:0007223 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007223 GO_process GO:0010800 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010800 GO_process GO:0010801 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010801 GO_process GO:0010880 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010880 GO_process GO:0010881 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010881 GO_process GO:0021762 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021762 GO_process GO:0022400 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022400 GO_process GO:0030801 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030801 GO_process GO:0031954 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031954 GO_process GO:0032465 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032465 GO_process GO:0032516 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032516 GO_process GO:0035307 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035307 GO_process GO:0038095 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0038095 GO_process GO:0043647 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043647 GO_process GO:0050999 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050999 GO_process GO:0051343 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051343 GO_process GO:0051592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051592 GO_process GO:0055117 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055117 GO_process GO:0060315 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060315 GO_process GO:0060316 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060316 GO_process GO:0071902 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071902 GO_process GO:1901844 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1901844 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005576 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005576 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005815 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005815 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0008092 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008092 GOslim_function GO:0016301 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016301 GOslim_function GO:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0030234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030234 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0005975 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005975 GOslim_process GO:0006091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006091 GOslim_process GO:0006464 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006464 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0009056 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009056 GOslim_process GO:0016192 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016192 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 Gene3D 1.10.238.10 http://www.cathdb.info/version/latest/superfamily/1.10.238.10 GeneCards CALM1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CALM1 GeneCards CALM2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CALM2 GeneCards CALM3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CALM3 GeneID 801 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=801 GeneID 805 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=805 GeneID 808 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=808 GeneTree ENSGT00760000118901 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118901 HGNC HGNC:1442 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:1442 HGNC HGNC:1445 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:1445 HGNC HGNC:1449 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:1449 HOVERGEN HBG012180 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG012180&db=HOVERGEN HPA CAB007790 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB007790 HPA CAB018558 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB018558 HPA HPA044999 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA044999 InParanoid P62158 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P62158 IntAct P62158 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P62158* InterPro IPR002048 http://www.ebi.ac.uk/interpro/entry/IPR002048 InterPro IPR011992 http://www.ebi.ac.uk/interpro/entry/IPR011992 InterPro IPR018247 http://www.ebi.ac.uk/interpro/entry/IPR018247 Jabion 801 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=801 Jabion 805 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=805 Jabion 808 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=808 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko03036 http://www.genome.jp/dbget-bin/www_bget?ko03036 KEGG_Gene hsa:801 http://www.genome.jp/dbget-bin/www_bget?hsa:801 KEGG_Gene hsa:805 http://www.genome.jp/dbget-bin/www_bget?hsa:805 KEGG_Gene hsa:808 http://www.genome.jp/dbget-bin/www_bget?hsa:808 KEGG_Orthology KO:K02183 http://www.genome.jp/dbget-bin/www_bget?KO:K02183 KEGG_Pathway ko04020 http://www.genome.jp/kegg-bin/show_pathway?ko04020 KEGG_Pathway ko04070 http://www.genome.jp/kegg-bin/show_pathway?ko04070 KEGG_Pathway ko04114 http://www.genome.jp/kegg-bin/show_pathway?ko04114 KEGG_Pathway ko04270 http://www.genome.jp/kegg-bin/show_pathway?ko04270 KEGG_Pathway ko04626 http://www.genome.jp/kegg-bin/show_pathway?ko04626 KEGG_Pathway ko04713 http://www.genome.jp/kegg-bin/show_pathway?ko04713 KEGG_Pathway ko04720 http://www.genome.jp/kegg-bin/show_pathway?ko04720 KEGG_Pathway ko04722 http://www.genome.jp/kegg-bin/show_pathway?ko04722 KEGG_Pathway ko04728 http://www.genome.jp/kegg-bin/show_pathway?ko04728 KEGG_Pathway ko04740 http://www.genome.jp/kegg-bin/show_pathway?ko04740 KEGG_Pathway ko04744 http://www.genome.jp/kegg-bin/show_pathway?ko04744 KEGG_Pathway ko04745 http://www.genome.jp/kegg-bin/show_pathway?ko04745 KEGG_Pathway ko04910 http://www.genome.jp/kegg-bin/show_pathway?ko04910 KEGG_Pathway ko04912 http://www.genome.jp/kegg-bin/show_pathway?ko04912 KEGG_Pathway ko04916 http://www.genome.jp/kegg-bin/show_pathway?ko04916 KEGG_Pathway ko04970 http://www.genome.jp/kegg-bin/show_pathway?ko04970 KEGG_Pathway ko04971 http://www.genome.jp/kegg-bin/show_pathway?ko04971 KEGG_Pathway ko05010 http://www.genome.jp/kegg-bin/show_pathway?ko05010 KEGG_Pathway ko05031 http://www.genome.jp/kegg-bin/show_pathway?ko05031 KEGG_Pathway ko05034 http://www.genome.jp/kegg-bin/show_pathway?ko05034 KEGG_Pathway ko05133 http://www.genome.jp/kegg-bin/show_pathway?ko05133 KEGG_Pathway ko05152 http://www.genome.jp/kegg-bin/show_pathway?ko05152 KEGG_Pathway ko05214 http://www.genome.jp/kegg-bin/show_pathway?ko05214 MIM 114180 http://www.ncbi.nlm.nih.gov/omim/114180 MIM 114182 http://www.ncbi.nlm.nih.gov/omim/114182 MIM 114183 http://www.ncbi.nlm.nih.gov/omim/114183 MIM 614916 http://www.ncbi.nlm.nih.gov/omim/614916 MIM 616247 http://www.ncbi.nlm.nih.gov/omim/616247 MIM 616249 http://www.ncbi.nlm.nih.gov/omim/616249 MINT MINT-4999725 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-4999725 OMA HRISGKA http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=HRISGKA Orphanet 3286 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=3286 OrthoDB EOG091G0V73 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0V73 PDB 1AJI http://www.ebi.ac.uk/pdbe-srv/view/entry/1AJI PDB 1CDL http://www.ebi.ac.uk/pdbe-srv/view/entry/1CDL PDB 1CLL http://www.ebi.ac.uk/pdbe-srv/view/entry/1CLL PDB 1CTR http://www.ebi.ac.uk/pdbe-srv/view/entry/1CTR PDB 1IWQ http://www.ebi.ac.uk/pdbe-srv/view/entry/1IWQ PDB 1J7O http://www.ebi.ac.uk/pdbe-srv/view/entry/1J7O PDB 1J7P http://www.ebi.ac.uk/pdbe-srv/view/entry/1J7P PDB 1K90 http://www.ebi.ac.uk/pdbe-srv/view/entry/1K90 PDB 1K93 http://www.ebi.ac.uk/pdbe-srv/view/entry/1K93 PDB 1L7Z http://www.ebi.ac.uk/pdbe-srv/view/entry/1L7Z PDB 1LVC http://www.ebi.ac.uk/pdbe-srv/view/entry/1LVC PDB 1NKF http://www.ebi.ac.uk/pdbe-srv/view/entry/1NKF PDB 1PK0 http://www.ebi.ac.uk/pdbe-srv/view/entry/1PK0 PDB 1S26 http://www.ebi.ac.uk/pdbe-srv/view/entry/1S26 PDB 1SK6 http://www.ebi.ac.uk/pdbe-srv/view/entry/1SK6 PDB 1SW8 http://www.ebi.ac.uk/pdbe-srv/view/entry/1SW8 PDB 1WRZ http://www.ebi.ac.uk/pdbe-srv/view/entry/1WRZ PDB 1XFU http://www.ebi.ac.uk/pdbe-srv/view/entry/1XFU PDB 1XFV http://www.ebi.ac.uk/pdbe-srv/view/entry/1XFV PDB 1XFW http://www.ebi.ac.uk/pdbe-srv/view/entry/1XFW PDB 1XFX http://www.ebi.ac.uk/pdbe-srv/view/entry/1XFX PDB 1XFY http://www.ebi.ac.uk/pdbe-srv/view/entry/1XFY PDB 1XFZ http://www.ebi.ac.uk/pdbe-srv/view/entry/1XFZ PDB 1Y6W http://www.ebi.ac.uk/pdbe-srv/view/entry/1Y6W PDB 1YR5 http://www.ebi.ac.uk/pdbe-srv/view/entry/1YR5 PDB 1YRT http://www.ebi.ac.uk/pdbe-srv/view/entry/1YRT PDB 1YRU http://www.ebi.ac.uk/pdbe-srv/view/entry/1YRU PDB 1ZOT http://www.ebi.ac.uk/pdbe-srv/view/entry/1ZOT PDB 1ZUZ http://www.ebi.ac.uk/pdbe-srv/view/entry/1ZUZ PDB 2BE6 http://www.ebi.ac.uk/pdbe-srv/view/entry/2BE6 PDB 2F3Y http://www.ebi.ac.uk/pdbe-srv/view/entry/2F3Y PDB 2F3Z http://www.ebi.ac.uk/pdbe-srv/view/entry/2F3Z PDB 2HF5 http://www.ebi.ac.uk/pdbe-srv/view/entry/2HF5 PDB 2I08 http://www.ebi.ac.uk/pdbe-srv/view/entry/2I08 PDB 2JZI http://www.ebi.ac.uk/pdbe-srv/view/entry/2JZI PDB 2K0E http://www.ebi.ac.uk/pdbe-srv/view/entry/2K0E PDB 2K0F http://www.ebi.ac.uk/pdbe-srv/view/entry/2K0F PDB 2K0J http://www.ebi.ac.uk/pdbe-srv/view/entry/2K0J PDB 2K61 http://www.ebi.ac.uk/pdbe-srv/view/entry/2K61 PDB 2KNE http://www.ebi.ac.uk/pdbe-srv/view/entry/2KNE PDB 2KUG http://www.ebi.ac.uk/pdbe-srv/view/entry/2KUG PDB 2KUH http://www.ebi.ac.uk/pdbe-srv/view/entry/2KUH PDB 2L53 http://www.ebi.ac.uk/pdbe-srv/view/entry/2L53 PDB 2L7L http://www.ebi.ac.uk/pdbe-srv/view/entry/2L7L PDB 2LGF http://www.ebi.ac.uk/pdbe-srv/view/entry/2LGF PDB 2LL6 http://www.ebi.ac.uk/pdbe-srv/view/entry/2LL6 PDB 2LL7 http://www.ebi.ac.uk/pdbe-srv/view/entry/2LL7 PDB 2LQC http://www.ebi.ac.uk/pdbe-srv/view/entry/2LQC PDB 2LQP http://www.ebi.ac.uk/pdbe-srv/view/entry/2LQP PDB 2LV6 http://www.ebi.ac.uk/pdbe-srv/view/entry/2LV6 PDB 2M0J http://www.ebi.ac.uk/pdbe-srv/view/entry/2M0J PDB 2M0K http://www.ebi.ac.uk/pdbe-srv/view/entry/2M0K PDB 2M55 http://www.ebi.ac.uk/pdbe-srv/view/entry/2M55 PDB 2MG5 http://www.ebi.ac.uk/pdbe-srv/view/entry/2MG5 PDB 2N27 http://www.ebi.ac.uk/pdbe-srv/view/entry/2N27 PDB 2N6A http://www.ebi.ac.uk/pdbe-srv/view/entry/2N6A PDB 2N8J http://www.ebi.ac.uk/pdbe-srv/view/entry/2N8J PDB 2R28 http://www.ebi.ac.uk/pdbe-srv/view/entry/2R28 PDB 2V01 http://www.ebi.ac.uk/pdbe-srv/view/entry/2V01 PDB 2V02 http://www.ebi.ac.uk/pdbe-srv/view/entry/2V02 PDB 2VAY http://www.ebi.ac.uk/pdbe-srv/view/entry/2VAY PDB 2W73 http://www.ebi.ac.uk/pdbe-srv/view/entry/2W73 PDB 2WEL http://www.ebi.ac.uk/pdbe-srv/view/entry/2WEL PDB 2X0G http://www.ebi.ac.uk/pdbe-srv/view/entry/2X0G PDB 2Y4V http://www.ebi.ac.uk/pdbe-srv/view/entry/2Y4V PDB 3BYA http://www.ebi.ac.uk/pdbe-srv/view/entry/3BYA PDB 3DVE http://www.ebi.ac.uk/pdbe-srv/view/entry/3DVE PDB 3DVJ http://www.ebi.ac.uk/pdbe-srv/view/entry/3DVJ PDB 3DVK http://www.ebi.ac.uk/pdbe-srv/view/entry/3DVK PDB 3DVM http://www.ebi.ac.uk/pdbe-srv/view/entry/3DVM PDB 3EWT http://www.ebi.ac.uk/pdbe-srv/view/entry/3EWT PDB 3EWV http://www.ebi.ac.uk/pdbe-srv/view/entry/3EWV PDB 3G43 http://www.ebi.ac.uk/pdbe-srv/view/entry/3G43 PDB 3HR4 http://www.ebi.ac.uk/pdbe-srv/view/entry/3HR4 PDB 3J41 http://www.ebi.ac.uk/pdbe-srv/view/entry/3J41 PDB 3O77 http://www.ebi.ac.uk/pdbe-srv/view/entry/3O77 PDB 3O78 http://www.ebi.ac.uk/pdbe-srv/view/entry/3O78 PDB 3OXQ http://www.ebi.ac.uk/pdbe-srv/view/entry/3OXQ PDB 3SUI http://www.ebi.ac.uk/pdbe-srv/view/entry/3SUI PDB 3UCT http://www.ebi.ac.uk/pdbe-srv/view/entry/3UCT PDB 3UCW http://www.ebi.ac.uk/pdbe-srv/view/entry/3UCW PDB 3UCY http://www.ebi.ac.uk/pdbe-srv/view/entry/3UCY PDB 4BW7 http://www.ebi.ac.uk/pdbe-srv/view/entry/4BW7 PDB 4BW8 http://www.ebi.ac.uk/pdbe-srv/view/entry/4BW8 PDB 4BYF http://www.ebi.ac.uk/pdbe-srv/view/entry/4BYF PDB 4DCK http://www.ebi.ac.uk/pdbe-srv/view/entry/4DCK PDB 4DJC http://www.ebi.ac.uk/pdbe-srv/view/entry/4DJC PDB 4GOW http://www.ebi.ac.uk/pdbe-srv/view/entry/4GOW PDB 4JPZ http://www.ebi.ac.uk/pdbe-srv/view/entry/4JPZ PDB 4JQ0 http://www.ebi.ac.uk/pdbe-srv/view/entry/4JQ0 PDB 4L79 http://www.ebi.ac.uk/pdbe-srv/view/entry/4L79 PDB 4LZX http://www.ebi.ac.uk/pdbe-srv/view/entry/4LZX PDB 4M1L http://www.ebi.ac.uk/pdbe-srv/view/entry/4M1L PDB 4OVN http://www.ebi.ac.uk/pdbe-srv/view/entry/4OVN PDB 4Q57 http://www.ebi.ac.uk/pdbe-srv/view/entry/4Q57 PDB 4Q5U http://www.ebi.ac.uk/pdbe-srv/view/entry/4Q5U PDB 4UMO http://www.ebi.ac.uk/pdbe-srv/view/entry/4UMO PDB 4UPU http://www.ebi.ac.uk/pdbe-srv/view/entry/4UPU PDB 4V0C http://www.ebi.ac.uk/pdbe-srv/view/entry/4V0C PDB 5COC http://www.ebi.ac.uk/pdbe-srv/view/entry/5COC PDB 5DOW http://www.ebi.ac.uk/pdbe-srv/view/entry/5DOW PDB 5GGM http://www.ebi.ac.uk/pdbe-srv/view/entry/5GGM PDB 5I0I http://www.ebi.ac.uk/pdbe-srv/view/entry/5I0I PDB 5J03 http://www.ebi.ac.uk/pdbe-srv/view/entry/5J03 PDB 5J8H http://www.ebi.ac.uk/pdbe-srv/view/entry/5J8H PDB 5K7L http://www.ebi.ac.uk/pdbe-srv/view/entry/5K7L PDB 5K8Q http://www.ebi.ac.uk/pdbe-srv/view/entry/5K8Q PDBsum 1AJI http://www.ebi.ac.uk/pdbsum/1AJI PDBsum 1CDL http://www.ebi.ac.uk/pdbsum/1CDL PDBsum 1CLL http://www.ebi.ac.uk/pdbsum/1CLL PDBsum 1CTR http://www.ebi.ac.uk/pdbsum/1CTR PDBsum 1IWQ http://www.ebi.ac.uk/pdbsum/1IWQ PDBsum 1J7O http://www.ebi.ac.uk/pdbsum/1J7O PDBsum 1J7P http://www.ebi.ac.uk/pdbsum/1J7P PDBsum 1K90 http://www.ebi.ac.uk/pdbsum/1K90 PDBsum 1K93 http://www.ebi.ac.uk/pdbsum/1K93 PDBsum 1L7Z http://www.ebi.ac.uk/pdbsum/1L7Z PDBsum 1LVC http://www.ebi.ac.uk/pdbsum/1LVC PDBsum 1NKF http://www.ebi.ac.uk/pdbsum/1NKF PDBsum 1PK0 http://www.ebi.ac.uk/pdbsum/1PK0 PDBsum 1S26 http://www.ebi.ac.uk/pdbsum/1S26 PDBsum 1SK6 http://www.ebi.ac.uk/pdbsum/1SK6 PDBsum 1SW8 http://www.ebi.ac.uk/pdbsum/1SW8 PDBsum 1WRZ http://www.ebi.ac.uk/pdbsum/1WRZ PDBsum 1XFU http://www.ebi.ac.uk/pdbsum/1XFU PDBsum 1XFV http://www.ebi.ac.uk/pdbsum/1XFV PDBsum 1XFW http://www.ebi.ac.uk/pdbsum/1XFW PDBsum 1XFX http://www.ebi.ac.uk/pdbsum/1XFX PDBsum 1XFY http://www.ebi.ac.uk/pdbsum/1XFY PDBsum 1XFZ http://www.ebi.ac.uk/pdbsum/1XFZ PDBsum 1Y6W http://www.ebi.ac.uk/pdbsum/1Y6W PDBsum 1YR5 http://www.ebi.ac.uk/pdbsum/1YR5 PDBsum 1YRT http://www.ebi.ac.uk/pdbsum/1YRT PDBsum 1YRU http://www.ebi.ac.uk/pdbsum/1YRU PDBsum 1ZOT http://www.ebi.ac.uk/pdbsum/1ZOT PDBsum 1ZUZ http://www.ebi.ac.uk/pdbsum/1ZUZ PDBsum 2BE6 http://www.ebi.ac.uk/pdbsum/2BE6 PDBsum 2F3Y http://www.ebi.ac.uk/pdbsum/2F3Y PDBsum 2F3Z http://www.ebi.ac.uk/pdbsum/2F3Z PDBsum 2HF5 http://www.ebi.ac.uk/pdbsum/2HF5 PDBsum 2I08 http://www.ebi.ac.uk/pdbsum/2I08 PDBsum 2JZI http://www.ebi.ac.uk/pdbsum/2JZI PDBsum 2K0E http://www.ebi.ac.uk/pdbsum/2K0E PDBsum 2K0F http://www.ebi.ac.uk/pdbsum/2K0F PDBsum 2K0J http://www.ebi.ac.uk/pdbsum/2K0J PDBsum 2K61 http://www.ebi.ac.uk/pdbsum/2K61 PDBsum 2KNE http://www.ebi.ac.uk/pdbsum/2KNE PDBsum 2KUG http://www.ebi.ac.uk/pdbsum/2KUG PDBsum 2KUH http://www.ebi.ac.uk/pdbsum/2KUH PDBsum 2L53 http://www.ebi.ac.uk/pdbsum/2L53 PDBsum 2L7L http://www.ebi.ac.uk/pdbsum/2L7L PDBsum 2LGF http://www.ebi.ac.uk/pdbsum/2LGF PDBsum 2LL6 http://www.ebi.ac.uk/pdbsum/2LL6 PDBsum 2LL7 http://www.ebi.ac.uk/pdbsum/2LL7 PDBsum 2LQC http://www.ebi.ac.uk/pdbsum/2LQC PDBsum 2LQP http://www.ebi.ac.uk/pdbsum/2LQP PDBsum 2LV6 http://www.ebi.ac.uk/pdbsum/2LV6 PDBsum 2M0J http://www.ebi.ac.uk/pdbsum/2M0J PDBsum 2M0K http://www.ebi.ac.uk/pdbsum/2M0K PDBsum 2M55 http://www.ebi.ac.uk/pdbsum/2M55 PDBsum 2MG5 http://www.ebi.ac.uk/pdbsum/2MG5 PDBsum 2N27 http://www.ebi.ac.uk/pdbsum/2N27 PDBsum 2N6A http://www.ebi.ac.uk/pdbsum/2N6A PDBsum 2N8J http://www.ebi.ac.uk/pdbsum/2N8J PDBsum 2R28 http://www.ebi.ac.uk/pdbsum/2R28 PDBsum 2V01 http://www.ebi.ac.uk/pdbsum/2V01 PDBsum 2V02 http://www.ebi.ac.uk/pdbsum/2V02 PDBsum 2VAY http://www.ebi.ac.uk/pdbsum/2VAY PDBsum 2W73 http://www.ebi.ac.uk/pdbsum/2W73 PDBsum 2WEL http://www.ebi.ac.uk/pdbsum/2WEL PDBsum 2X0G http://www.ebi.ac.uk/pdbsum/2X0G PDBsum 2Y4V http://www.ebi.ac.uk/pdbsum/2Y4V PDBsum 3BYA http://www.ebi.ac.uk/pdbsum/3BYA PDBsum 3DVE http://www.ebi.ac.uk/pdbsum/3DVE PDBsum 3DVJ http://www.ebi.ac.uk/pdbsum/3DVJ PDBsum 3DVK http://www.ebi.ac.uk/pdbsum/3DVK PDBsum 3DVM http://www.ebi.ac.uk/pdbsum/3DVM PDBsum 3EWT http://www.ebi.ac.uk/pdbsum/3EWT PDBsum 3EWV http://www.ebi.ac.uk/pdbsum/3EWV PDBsum 3G43 http://www.ebi.ac.uk/pdbsum/3G43 PDBsum 3HR4 http://www.ebi.ac.uk/pdbsum/3HR4 PDBsum 3J41 http://www.ebi.ac.uk/pdbsum/3J41 PDBsum 3O77 http://www.ebi.ac.uk/pdbsum/3O77 PDBsum 3O78 http://www.ebi.ac.uk/pdbsum/3O78 PDBsum 3OXQ http://www.ebi.ac.uk/pdbsum/3OXQ PDBsum 3SUI http://www.ebi.ac.uk/pdbsum/3SUI PDBsum 3UCT http://www.ebi.ac.uk/pdbsum/3UCT PDBsum 3UCW http://www.ebi.ac.uk/pdbsum/3UCW PDBsum 3UCY http://www.ebi.ac.uk/pdbsum/3UCY PDBsum 4BW7 http://www.ebi.ac.uk/pdbsum/4BW7 PDBsum 4BW8 http://www.ebi.ac.uk/pdbsum/4BW8 PDBsum 4BYF http://www.ebi.ac.uk/pdbsum/4BYF PDBsum 4DCK http://www.ebi.ac.uk/pdbsum/4DCK PDBsum 4DJC http://www.ebi.ac.uk/pdbsum/4DJC PDBsum 4GOW http://www.ebi.ac.uk/pdbsum/4GOW PDBsum 4JPZ http://www.ebi.ac.uk/pdbsum/4JPZ PDBsum 4JQ0 http://www.ebi.ac.uk/pdbsum/4JQ0 PDBsum 4L79 http://www.ebi.ac.uk/pdbsum/4L79 PDBsum 4LZX http://www.ebi.ac.uk/pdbsum/4LZX PDBsum 4M1L http://www.ebi.ac.uk/pdbsum/4M1L PDBsum 4OVN http://www.ebi.ac.uk/pdbsum/4OVN PDBsum 4Q57 http://www.ebi.ac.uk/pdbsum/4Q57 PDBsum 4Q5U http://www.ebi.ac.uk/pdbsum/4Q5U PDBsum 4UMO http://www.ebi.ac.uk/pdbsum/4UMO PDBsum 4UPU http://www.ebi.ac.uk/pdbsum/4UPU PDBsum 4V0C http://www.ebi.ac.uk/pdbsum/4V0C PDBsum 5COC http://www.ebi.ac.uk/pdbsum/5COC PDBsum 5DOW http://www.ebi.ac.uk/pdbsum/5DOW PDBsum 5GGM http://www.ebi.ac.uk/pdbsum/5GGM PDBsum 5I0I http://www.ebi.ac.uk/pdbsum/5I0I PDBsum 5J03 http://www.ebi.ac.uk/pdbsum/5J03 PDBsum 5J8H http://www.ebi.ac.uk/pdbsum/5J8H PDBsum 5K7L http://www.ebi.ac.uk/pdbsum/5K7L PDBsum 5K8Q http://www.ebi.ac.uk/pdbsum/5K8Q PROSITE PS00018 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00018 PROSITE PS50222 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50222 PSORT swissprot:CALM_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CALM_HUMAN PSORT-B swissprot:CALM_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CALM_HUMAN PSORT2 swissprot:CALM_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CALM_HUMAN Pfam PF13499 http://pfam.xfam.org/family/PF13499 PharmGKB PA26042 http://www.pharmgkb.org/do/serve?objId=PA26042&objCls=Gene Phobius swissprot:CALM_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CALM_HUMAN PhylomeDB P62158 http://phylomedb.org/?seqid=P62158 ProteinModelPortal P62158 http://www.proteinmodelportal.org/query/uniprot/P62158 PubMed 11685248 http://www.ncbi.nlm.nih.gov/pubmed/11685248 PubMed 11807546 http://www.ncbi.nlm.nih.gov/pubmed/11807546 PubMed 12485993 http://www.ncbi.nlm.nih.gov/pubmed/12485993 PubMed 12508121 http://www.ncbi.nlm.nih.gov/pubmed/12508121 PubMed 12577052 http://www.ncbi.nlm.nih.gov/pubmed/12577052 PubMed 12871148 http://www.ncbi.nlm.nih.gov/pubmed/12871148 PubMed 1474585 http://www.ncbi.nlm.nih.gov/pubmed/1474585 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15592455 http://www.ncbi.nlm.nih.gov/pubmed/15592455 PubMed 15719022 http://www.ncbi.nlm.nih.gov/pubmed/15719022 PubMed 15746192 http://www.ncbi.nlm.nih.gov/pubmed/15746192 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 PubMed 16127172 http://www.ncbi.nlm.nih.gov/pubmed/16127172 PubMed 16299511 http://www.ncbi.nlm.nih.gov/pubmed/16299511 PubMed 16760425 http://www.ncbi.nlm.nih.gov/pubmed/16760425 PubMed 17719545 http://www.ncbi.nlm.nih.gov/pubmed/17719545 PubMed 18650434 http://www.ncbi.nlm.nih.gov/pubmed/18650434 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 19413330 http://www.ncbi.nlm.nih.gov/pubmed/19413330 PubMed 19608861 http://www.ncbi.nlm.nih.gov/pubmed/19608861 PubMed 19690332 http://www.ncbi.nlm.nih.gov/pubmed/19690332 PubMed 20466722 http://www.ncbi.nlm.nih.gov/pubmed/20466722 PubMed 21167176 http://www.ncbi.nlm.nih.gov/pubmed/21167176 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 21406692 http://www.ncbi.nlm.nih.gov/pubmed/21406692 PubMed 22223895 http://www.ncbi.nlm.nih.gov/pubmed/22223895 PubMed 2223880 http://www.ncbi.nlm.nih.gov/pubmed/2223880 PubMed 22484487 http://www.ncbi.nlm.nih.gov/pubmed/22484487 PubMed 22814378 http://www.ncbi.nlm.nih.gov/pubmed/22814378 PubMed 23040497 http://www.ncbi.nlm.nih.gov/pubmed/23040497 PubMed 23109337 http://www.ncbi.nlm.nih.gov/pubmed/23109337 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 23388215 http://www.ncbi.nlm.nih.gov/pubmed/23388215 PubMed 23893133 http://www.ncbi.nlm.nih.gov/pubmed/23893133 PubMed 24076290 http://www.ncbi.nlm.nih.gov/pubmed/24076290 PubMed 24129315 http://www.ncbi.nlm.nih.gov/pubmed/24129315 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 2445749 http://www.ncbi.nlm.nih.gov/pubmed/2445749 PubMed 24917665 http://www.ncbi.nlm.nih.gov/pubmed/24917665 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 3182832 http://www.ncbi.nlm.nih.gov/pubmed/3182832 PubMed 6385987 http://www.ncbi.nlm.nih.gov/pubmed/6385987 PubMed 7093203 http://www.ncbi.nlm.nih.gov/pubmed/7093203 PubMed 7803388 http://www.ncbi.nlm.nih.gov/pubmed/7803388 PubMed 7925473 http://www.ncbi.nlm.nih.gov/pubmed/7925473 PubMed 9681195 http://www.ncbi.nlm.nih.gov/pubmed/9681195 PubMed 9804419 http://www.ncbi.nlm.nih.gov/pubmed/9804419 PubMed 9927666 http://www.ncbi.nlm.nih.gov/pubmed/9927666 Reactome R-HSA-111932 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-111932 Reactome R-HSA-111933 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-111933 Reactome R-HSA-111957 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-111957 Reactome R-HSA-111997 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-111997 Reactome R-HSA-114608 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-114608 Reactome R-HSA-1445148 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1445148 Reactome R-HSA-1474151 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1474151 Reactome R-HSA-163615 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-163615 Reactome R-HSA-180024 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-180024 Reactome R-HSA-1855204 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1855204 Reactome R-HSA-203615 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-203615 Reactome R-HSA-2514859 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2514859 Reactome R-HSA-2672351 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2672351 Reactome R-HSA-2871809 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2871809 Reactome R-HSA-4086398 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-4086398 Reactome R-HSA-418359 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-418359 Reactome R-HSA-425561 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-425561 Reactome R-HSA-442717 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-442717 Reactome R-HSA-442729 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-442729 Reactome R-HSA-442745 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-442745 Reactome R-HSA-442982 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-442982 Reactome R-HSA-445355 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-445355 Reactome R-HSA-451308 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-451308 Reactome R-HSA-5210891 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5210891 Reactome R-HSA-5218920 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5218920 Reactome R-HSA-5218921 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5218921 Reactome R-HSA-5576892 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576892 Reactome R-HSA-5578775 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5578775 Reactome R-HSA-5607763 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5607763 Reactome R-HSA-5626467 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5626467 Reactome R-HSA-5627123 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5627123 Reactome R-HSA-5673001 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5673001 Reactome R-HSA-70221 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-70221 Reactome R-HSA-936837 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-936837 Reactome R-HSA-983695 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-983695 RefSeq NP_001292553 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001292553 RefSeq NP_001292554 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001292554 RefSeq NP_001292555 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001292555 RefSeq NP_001316851 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001316851 RefSeq NP_001316852 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001316852 RefSeq NP_001316853 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001316853 RefSeq NP_001316854 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001316854 RefSeq NP_001316855 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001316855 RefSeq NP_001734 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001734 RefSeq NP_005175 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_005175 RefSeq NP_008819 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_008819 SMART SM00054 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00054 SMR P62158 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P62158 STRING 9606.ENSP00000349467 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000349467&targetmode=cogs SUPFAM SSF47473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF47473 SWISS-2DPAGE P62158 http://world-2dpage.expasy.org/swiss-2dpage/protein/ac=P62158 TCDB 8.A.82.1 http://www.tcdb.org/search/result.php?tc=8.A.82.1 UCSC uc001xyl http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001xyl&org=rat UniGene Hs.282410 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.282410 UniGene Hs.468442 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.468442 UniGene Hs.515487 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.515487 UniProtKB CALM_HUMAN http://www.uniprot.org/uniprot/CALM_HUMAN UniProtKB-AC P62158 http://www.uniprot.org/uniprot/P62158 charge swissprot:CALM_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CALM_HUMAN eggNOG COG5126 http://eggnogapi.embl.de/nog_data/html/tree/COG5126 eggNOG KOG0027 http://eggnogapi.embl.de/nog_data/html/tree/KOG0027 epestfind swissprot:CALM_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CALM_HUMAN garnier swissprot:CALM_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CALM_HUMAN helixturnhelix swissprot:CALM_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CALM_HUMAN hmoment swissprot:CALM_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CALM_HUMAN iep swissprot:CALM_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CALM_HUMAN inforesidue swissprot:CALM_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CALM_HUMAN neXtProt NX_P62158 http://www.nextprot.org/db/entry/NX_P62158 octanol swissprot:CALM_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CALM_HUMAN pepcoil swissprot:CALM_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CALM_HUMAN pepdigest swissprot:CALM_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CALM_HUMAN pepinfo swissprot:CALM_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CALM_HUMAN pepnet swissprot:CALM_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CALM_HUMAN pepstats swissprot:CALM_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CALM_HUMAN pepwheel swissprot:CALM_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CALM_HUMAN pepwindow swissprot:CALM_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CALM_HUMAN sigcleave swissprot:CALM_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CALM_HUMAN ## Database ID URL or Descriptions # AltName TM38A_HUMAN Transmembrane protein 38A # BioGrid 122504 7 # ChiTaRS TMEM38A human # DOMAIN TM38A_HUMAN The second transmembrane domain has been proposed to cross only half of the lipid bilayer and to loop back into the cytosol, so that the domains on each side of this domain are both found on the cytosolic face of the membrane. The cytosolic loop may form an ion-conducting pore. # Ensembl ENST00000187762 ENSP00000187762; ENSG00000072954 # ExpressionAtlas Q9H6F2 baseline and differential # FUNCTION TM38A_HUMAN Monovalent cation channel required for maintenance of rapid intracellular calcium release. May act as a potassium counter-ion channel that functions in synchronization with calcium release from intracellular stores (By similarity). {ECO 0000250}. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0031965 nuclear membrane; NAS:BHF-UCL. # GO_component GO:0033017 sarcoplasmic reticulum membrane; NAS:BHF-UCL. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0005267 potassium channel activity; TAS:BHF-UCL. # GO_function GO:0015269 calcium-activated potassium channel activity; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0043226 organelle # GOslim_function GO:0022857 transmembrane transporter activity # Genevisible Q9H6F2 HS # HGNC HGNC:28462 TMEM38A # InterPro IPR007866 TRIC_channel # MIM 611235 gene # Organism TM38A_HUMAN Homo sapiens (Human) # Pfam PF05197 TRIC # Proteomes UP000005640 Chromosome 19 # RecName TM38A_HUMAN Trimeric intracellular cation channel type A # RefSeq NP_076979 NM_024074.2 # SIMILARITY Belongs to the TMEM38 family. {ECO 0000305}. # SUBCELLULAR LOCATION TM38A_HUMAN Sarcoplasmic reticulum membrane; Multi-pass membrane protein. Nucleus membrane {ECO 0000250}. # SUBUNIT Homotrimer. {ECO 0000250}. # UCSC uc002nes human # eggNOG ENOG410XQ0P LUCA # eggNOG KOG3944 Eukaryota BLAST swissprot:TM38A_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:TM38A_HUMAN BioCyc ZFISH:ENSG00000072954-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000072954-MONOMER COXPRESdb 79041 http://coxpresdb.jp/data/gene/79041.shtml CleanEx HS_TMEM38A http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_TMEM38A DOI 10.1038/nature05928 http://dx.doi.org/10.1038/nature05928 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AK025981 http://www.ebi.ac.uk/ena/data/view/AK025981 EMBL AK292764 http://www.ebi.ac.uk/ena/data/view/AK292764 EMBL BC001195 http://www.ebi.ac.uk/ena/data/view/BC001195 EMBL CH471106 http://www.ebi.ac.uk/ena/data/view/CH471106 Ensembl ENST00000187762 http://www.ensembl.org/id/ENST00000187762 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0031965 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031965 GO_component GO:0033017 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033017 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0005267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005267 GO_function GO:0015269 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015269 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GeneCards TMEM38A http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=TMEM38A GeneID 79041 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=79041 GeneTree ENSGT00390000018845 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000018845 HGNC HGNC:28462 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:28462 HOGENOM HOG000037929 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000037929&db=HOGENOM6 HOVERGEN HBG059853 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG059853&db=HOVERGEN HPA HPA048100 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA048100 HPA HPA050463 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA050463 InParanoid Q9H6F2 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9H6F2 InterPro IPR007866 http://www.ebi.ac.uk/interpro/entry/IPR007866 Jabion 79041 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=79041 KEGG_Gene hsa:79041 http://www.genome.jp/dbget-bin/www_bget?hsa:79041 MIM 611235 http://www.ncbi.nlm.nih.gov/omim/611235 OMA YKCVSFL http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=YKCVSFL OrthoDB EOG091G0GQP http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0GQP PSORT swissprot:TM38A_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:TM38A_HUMAN PSORT-B swissprot:TM38A_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:TM38A_HUMAN PSORT2 swissprot:TM38A_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:TM38A_HUMAN Pfam PF05197 http://pfam.xfam.org/family/PF05197 PharmGKB PA134891982 http://www.pharmgkb.org/do/serve?objId=PA134891982&objCls=Gene Phobius swissprot:TM38A_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:TM38A_HUMAN PhylomeDB Q9H6F2 http://phylomedb.org/?seqid=Q9H6F2 ProteinModelPortal Q9H6F2 http://www.proteinmodelportal.org/query/uniprot/Q9H6F2 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 17611541 http://www.ncbi.nlm.nih.gov/pubmed/17611541 RefSeq NP_076979 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_076979 STRING 9606.ENSP00000187762 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000187762&targetmode=cogs UCSC uc002nes http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002nes&org=rat UniGene Hs.436068 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.436068 UniProtKB TM38A_HUMAN http://www.uniprot.org/uniprot/TM38A_HUMAN UniProtKB-AC Q9H6F2 http://www.uniprot.org/uniprot/Q9H6F2 charge swissprot:TM38A_HUMAN http://rest.g-language.org/emboss/charge/swissprot:TM38A_HUMAN eggNOG ENOG410XQ0P http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XQ0P eggNOG KOG3944 http://eggnogapi.embl.de/nog_data/html/tree/KOG3944 epestfind swissprot:TM38A_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:TM38A_HUMAN garnier swissprot:TM38A_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:TM38A_HUMAN helixturnhelix swissprot:TM38A_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:TM38A_HUMAN hmoment swissprot:TM38A_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:TM38A_HUMAN iep swissprot:TM38A_HUMAN http://rest.g-language.org/emboss/iep/swissprot:TM38A_HUMAN inforesidue swissprot:TM38A_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:TM38A_HUMAN neXtProt NX_Q9H6F2 http://www.nextprot.org/db/entry/NX_Q9H6F2 octanol swissprot:TM38A_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:TM38A_HUMAN pepcoil swissprot:TM38A_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:TM38A_HUMAN pepdigest swissprot:TM38A_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:TM38A_HUMAN pepinfo swissprot:TM38A_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:TM38A_HUMAN pepnet swissprot:TM38A_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:TM38A_HUMAN pepstats swissprot:TM38A_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:TM38A_HUMAN pepwheel swissprot:TM38A_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:TM38A_HUMAN pepwindow swissprot:TM38A_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:TM38A_HUMAN sigcleave swissprot:TM38A_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:TM38A_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS AT8A1_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; Synonyms=Long; IsoId=Q9Y2Q0-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=Q9Y2Q0-2; Sequence=VSP_000431; Name=3; IsoId=Q9Y2Q0-3; Sequence=VSP_040977, VSP_000431; # AltName AT8A1_HUMAN ATPase class I type 8A member 1 # AltName AT8A1_HUMAN Chromaffin granule ATPase II # AltName AT8A1_HUMAN P4-ATPase flippase complex alpha subunit ATP8A1 # BRENDA 3.6.3 2681 # BioGrid 115668 2 # CATALYTIC ACTIVITY AT8A1_HUMAN ATP + H(2)O + phospholipid(Side 1) = ADP + phosphate + phospholipid(Side 2). # CCDS CCDS3466 -. [Q9Y2Q0-1] # CCDS CCDS47049 -. [Q9Y2Q0-3] # ChiTaRS ATP8A1 human # DrugBank DB00144 Phosphatidylserine # ENZYME REGULATION ATPase activity is stimulated by phosphatidylserine (PS) and minimally by phosphatidylethanolamine (PE). {ECO 0000250}. # Ensembl ENST00000264449 ENSP00000264449; ENSG00000124406. [Q9Y2Q0-3] # Ensembl ENST00000381668 ENSP00000371084; ENSG00000124406. [Q9Y2Q0-1] # ExpressionAtlas Q9Y2Q0 baseline and differential # FUNCTION AT8A1_HUMAN Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules. In vitro, its ATPase activity is selectively and stereospecifically stimulated by phosphatidylserine (PS). The flippase complex ATP8A1 TMEM30A seems to play a role in regulation of cell migration probably involving flippase-mediated translocation of phosphatidylethanolamine (PE) at the plasma membrane. Acts as aminophospholipid translocase at the plasma membrane in neuronal cells. # GO_component GO:0000139 Golgi membrane; IEA:GOC. # GO_component GO:0005783 endoplasmic reticulum; IDA:UniProtKB. # GO_component GO:0005794 Golgi apparatus; IDA:UniProtKB. # GO_component GO:0005802 trans-Golgi network; IBA:GO_Central. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0042584 chromaffin granule membrane; IEA:UniProtKB-SubCell. # GO_component GO:0043231 intracellular membrane-bounded organelle; IDA:HPA. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0000287 magnesium ion binding; IEA:InterPro. # GO_function GO:0004012 phospholipid-translocating ATPase activity; IBA:GO_Central. # GO_function GO:0005524 ATP binding; IEA:UniProtKB-KW. # GO_function GO:0019829 cation-transporting ATPase activity; NAS:UniProtKB. # GO_process GO:0007612 learning; IEA:Ensembl. # GO_process GO:0030335 positive regulation of cell migration; IEA:Ensembl. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0045332 phospholipid translocation; NAS:UniProtKB. # GO_process GO:0048194 Golgi vesicle budding; IBA:GO_Central. # GO_process GO:0061092 positive regulation of phospholipid translocation; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_component GO:0005794 Golgi apparatus # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0050877 neurological system process # GOslim_process GO:0055085 transmembrane transport # GOslim_process GO:0061024 membrane organization # Gene3D 2.70.150.10 -; 2. # Gene3D 3.40.1110.10 -; 1. # Gene3D 3.40.50.1000 -; 2. # Genevisible Q9Y2Q0 HS # HGNC HGNC:13531 ATP8A1 # InterPro IPR001757 P_typ_ATPase # InterPro IPR006539 P-type_ATPase_IV # InterPro IPR008250 ATPase_P-typ_transduc_dom_A # InterPro IPR018303 ATPase_P-typ_P_site # InterPro IPR023214 HAD-like_dom # InterPro IPR023299 ATPase_P-typ_cyto_domN # InterPro IPR030342 ATP8A1 # InterPro IPR032630 P_typ_ATPase_c # InterPro IPR032631 P-type_ATPase_N # KEGG_Brite ko01000 Enzymes # KEGG_Brite ko03009 Ribosome biogenesis # MIM 609542 gene # Organism AT8A1_HUMAN Homo sapiens (Human) # PANTHER PTHR24092 PTHR24092 # PANTHER PTHR24092:SF56 PTHR24092:SF56 # PROSITE PS00154 ATPASE_E1_E2 # Pfam PF00122 E1-E2_ATPase # Pfam PF16209 PhoLip_ATPase_N # Pfam PF16212 PhoLip_ATPase_C # Proteomes UP000005640 Chromosome 4 # Reactome R-HSA-6798695 Neutrophil degranulation # Reactome R-HSA-936837 Ion transport by P-type ATPases # RecName AT8A1_HUMAN Phospholipid-transporting ATPase IA # RefSeq NP_001098999 NM_001105529.1. [Q9Y2Q0-3] # RefSeq NP_006086 NM_006095.2. [Q9Y2Q0-1] # RefSeq XP_016863134 XM_017007645.1. [Q9Y2Q0-2] # SEQUENCE CAUTION Sequence=AAI09318.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA77248.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IV subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION AT8A1_HUMAN Cytoplasmic vesicle, secretory vesicle, chromaffin granule membrane {ECO 0000250|UniProtKB P70704}; Multi- pass membrane protein {ECO 0000250|UniProtKB P70704}. Cytoplasmic granule {ECO 0000269|PubMed 20947505}. Cell membrane {ECO 0000269|PubMed 20947505, ECO 0000269|PubMed 21914794}. Endoplasmic reticulum {ECO 0000269|PubMed 20947505, ECO 0000269|PubMed 21914794}. Golgi apparatus {ECO 0000269|PubMed 20947505, ECO 0000269|PubMed 21914794}. Note=Exit from the endoplasmic reticulum requires the presence of TMEM30A, but not TMEM30B (PubMed 20947505). In the presence of TMEM30A, predominantly located in cytoplasmic punctate structures and localizes to the plasma membrane (PubMed 20947505). Localizes to plasma membranes of red blood cells (By similarity). {ECO 0000250|UniProtKB P70704, ECO 0000269|PubMed 20947505}. # SUBUNIT AT8A1_HUMAN Component of a P4-ATPase flippase complex which consists of a catalytic alpha subunit and an accessory beta subunit. Interacts with TMEM30A to form a flippase complex; the interaction with TMEM30B is reported conflictingly. {ECO 0000269|PubMed 20947505, ECO 0000269|PubMed 20961850, ECO 0000269|PubMed 21914794}. # SUPFAM SSF56784 SSF56784; 3 # SUPFAM SSF81660 SSF81660 # TCDB 3.A.3.8.13 the p-type atpase (p-atpase) superfamily # TIGRFAMs TIGR01494 ATPase_P-type; 3 # TIGRFAMs TIGR01652 ATPase-Plipid # TISSUE SPECIFICITY AT8A1_HUMAN Found in most adult tissues except liver, testis and placenta. Most abundant in heart, brain and skeletal muscle. Also detected in fetal tissues. Isoform 1 is only detected in brain, skeletal muscle and heart and is the most abundant form in skeletal muscle. # UCSC uc003gwr human. [Q9Y2Q0-1] # eggNOG ENOG410ITKD Eukaryota # eggNOG ENOG410XPYK LUCA BLAST swissprot:AT8A1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:AT8A1_HUMAN BioCyc ZFISH:HS04767-MONOMER http://biocyc.org/getid?id=ZFISH:HS04767-MONOMER COXPRESdb 10396 http://coxpresdb.jp/data/gene/10396.shtml CleanEx HS_ATP8A1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ATP8A1 DOI 10.1006/bbrc.1999.0347 http://dx.doi.org/10.1006/bbrc.1999.0347 DOI 10.1021/pr0704130 http://dx.doi.org/10.1021/pr0704130 DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1074/jbc.M110.139006 http://dx.doi.org/10.1074/jbc.M110.139006 DOI 10.1074/jbc.M110.139543 http://dx.doi.org/10.1074/jbc.M110.139543 DOI 10.1074/jbc.M111.281006 http://dx.doi.org/10.1074/jbc.M111.281006 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/scisignal.2000007 http://dx.doi.org/10.1126/scisignal.2000007 DrugBank DB00144 http://www.drugbank.ca/drugs/DB00144 EC_number EC:3.6.3.1 http://www.genome.jp/dbget-bin/www_bget?EC:3.6.3.1 EMBL AB013452 http://www.ebi.ac.uk/ena/data/view/AB013452 EMBL AC084010 http://www.ebi.ac.uk/ena/data/view/AC084010 EMBL AC096734 http://www.ebi.ac.uk/ena/data/view/AC096734 EMBL AC110788 http://www.ebi.ac.uk/ena/data/view/AC110788 EMBL AC139717 http://www.ebi.ac.uk/ena/data/view/AC139717 EMBL AF067820 http://www.ebi.ac.uk/ena/data/view/AF067820 EMBL BC109317 http://www.ebi.ac.uk/ena/data/view/BC109317 EMBL BC109318 http://www.ebi.ac.uk/ena/data/view/BC109318 EMBL CH471069 http://www.ebi.ac.uk/ena/data/view/CH471069 ENZYME 3.6.3.1 http://enzyme.expasy.org/EC/3.6.3.1 Ensembl ENST00000264449 http://www.ensembl.org/id/ENST00000264449 Ensembl ENST00000381668 http://www.ensembl.org/id/ENST00000381668 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000139 GO_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GO_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GO_component GO:0005802 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005802 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0042584 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042584 GO_component GO:0043231 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043231 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0000287 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000287 GO_function GO:0004012 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004012 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0019829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019829 GO_process GO:0007612 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007612 GO_process GO:0030335 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030335 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0045332 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045332 GO_process GO:0048194 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048194 GO_process GO:0061092 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061092 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GOslim_process GO:0061024 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061024 Gene3D 2.70.150.10 http://www.cathdb.info/version/latest/superfamily/2.70.150.10 Gene3D 3.40.1110.10 http://www.cathdb.info/version/latest/superfamily/3.40.1110.10 Gene3D 3.40.50.1000 http://www.cathdb.info/version/latest/superfamily/3.40.50.1000 GeneCards ATP8A1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ATP8A1 GeneID 10396 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=10396 GeneTree ENSGT00860000133712 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00860000133712 HGNC HGNC:13531 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:13531 HOGENOM HOG000202528 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000202528&db=HOGENOM6 HOVERGEN HBG050601 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050601&db=HOVERGEN HPA HPA049948 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA049948 HPA HPA052935 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA052935 InParanoid Q9Y2Q0 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9Y2Q0 IntAct Q9Y2Q0 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9Y2Q0* IntEnz 3.6.3.1 http://www.ebi.ac.uk/intenz/query?cmd=Search&q=3.6.3.1 InterPro IPR001757 http://www.ebi.ac.uk/interpro/entry/IPR001757 InterPro IPR006539 http://www.ebi.ac.uk/interpro/entry/IPR006539 InterPro IPR008250 http://www.ebi.ac.uk/interpro/entry/IPR008250 InterPro IPR018303 http://www.ebi.ac.uk/interpro/entry/IPR018303 InterPro IPR023214 http://www.ebi.ac.uk/interpro/entry/IPR023214 InterPro IPR023299 http://www.ebi.ac.uk/interpro/entry/IPR023299 InterPro IPR030342 http://www.ebi.ac.uk/interpro/entry/IPR030342 InterPro IPR032630 http://www.ebi.ac.uk/interpro/entry/IPR032630 InterPro IPR032631 http://www.ebi.ac.uk/interpro/entry/IPR032631 Jabion 10396 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=10396 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Brite ko03009 http://www.genome.jp/dbget-bin/www_bget?ko03009 KEGG_Gene hsa:10396 http://www.genome.jp/dbget-bin/www_bget?hsa:10396 KEGG_Orthology KO:K14802 http://www.genome.jp/dbget-bin/www_bget?KO:K14802 MIM 609542 http://www.ncbi.nlm.nih.gov/omim/609542 OMA KDLDMHY http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=KDLDMHY OrthoDB EOG091G0139 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0139 PANTHER PTHR24092 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24092 PANTHER PTHR24092:SF56 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24092:SF56 PROSITE PS00154 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00154 PSORT swissprot:AT8A1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:AT8A1_HUMAN PSORT-B swissprot:AT8A1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:AT8A1_HUMAN PSORT2 swissprot:AT8A1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:AT8A1_HUMAN Pfam PF00122 http://pfam.xfam.org/family/PF00122 Pfam PF16209 http://pfam.xfam.org/family/PF16209 Pfam PF16212 http://pfam.xfam.org/family/PF16212 PharmGKB PA25165 http://www.pharmgkb.org/do/serve?objId=PA25165&objCls=Gene Phobius swissprot:AT8A1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:AT8A1_HUMAN PhylomeDB Q9Y2Q0 http://phylomedb.org/?seqid=Q9Y2Q0 ProteinModelPortal Q9Y2Q0 http://www.proteinmodelportal.org/query/uniprot/Q9Y2Q0 PubMed 10198212 http://www.ncbi.nlm.nih.gov/pubmed/10198212 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 PubMed 18088087 http://www.ncbi.nlm.nih.gov/pubmed/18088087 PubMed 19690332 http://www.ncbi.nlm.nih.gov/pubmed/19690332 PubMed 20947505 http://www.ncbi.nlm.nih.gov/pubmed/20947505 PubMed 20961850 http://www.ncbi.nlm.nih.gov/pubmed/20961850 PubMed 21914794 http://www.ncbi.nlm.nih.gov/pubmed/21914794 Reactome R-HSA-6798695 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6798695 Reactome R-HSA-936837 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-936837 RefSeq NP_001098999 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001098999 RefSeq NP_006086 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_006086 RefSeq XP_016863134 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016863134 STRING 9606.ENSP00000371084 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000371084&targetmode=cogs SUPFAM SSF56784 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF56784 SUPFAM SSF81660 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81660 TCDB 3.A.3.8.13 http://www.tcdb.org/search/result.php?tc=3.A.3.8.13 TIGRFAMs TIGR01494 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01494 TIGRFAMs TIGR01652 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01652 UCSC uc003gwr http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003gwr&org=rat UniGene Hs.435052 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.435052 UniProtKB AT8A1_HUMAN http://www.uniprot.org/uniprot/AT8A1_HUMAN UniProtKB-AC Q9Y2Q0 http://www.uniprot.org/uniprot/Q9Y2Q0 charge swissprot:AT8A1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:AT8A1_HUMAN eggNOG ENOG410ITKD http://eggnogapi.embl.de/nog_data/html/tree/ENOG410ITKD eggNOG ENOG410XPYK http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XPYK epestfind swissprot:AT8A1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:AT8A1_HUMAN garnier swissprot:AT8A1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:AT8A1_HUMAN helixturnhelix swissprot:AT8A1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:AT8A1_HUMAN hmoment swissprot:AT8A1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:AT8A1_HUMAN iep swissprot:AT8A1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:AT8A1_HUMAN inforesidue swissprot:AT8A1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:AT8A1_HUMAN neXtProt NX_Q9Y2Q0 http://www.nextprot.org/db/entry/NX_Q9Y2Q0 octanol swissprot:AT8A1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:AT8A1_HUMAN pepcoil swissprot:AT8A1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:AT8A1_HUMAN pepdigest swissprot:AT8A1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:AT8A1_HUMAN pepinfo swissprot:AT8A1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:AT8A1_HUMAN pepnet swissprot:AT8A1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:AT8A1_HUMAN pepstats swissprot:AT8A1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:AT8A1_HUMAN pepwheel swissprot:AT8A1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:AT8A1_HUMAN pepwindow swissprot:AT8A1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:AT8A1_HUMAN sigcleave swissprot:AT8A1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:AT8A1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS DLG1_HUMAN Event=Alternative splicing; Named isoforms=9; Name=1; IsoId=Q12959-1; Sequence=Displayed; Name=2; IsoId=Q12959-2; Sequence=VSP_003150; Note=Contains a phosphoserine at position 709. {ECO 0000244|PubMed 24275569}; Name=3; IsoId=Q12959-3; Sequence=VSP_012862; Name=4; IsoId=Q12959-4; Sequence=VSP_012862, VSP_003150; Note=Ref.6 (AAI44652) sequence is in conflict in position 636 Q->Missing. Contains a phosphoserine at position 676. {ECO 0000244|PubMed 24275569, ECO 0000305}; Name=5; IsoId=Q12959-5; Sequence=VSP_012862, VSP_012863; Name=6; IsoId=Q12959-6; Sequence=VSP_012864; Name=7; IsoId=Q12959-7; Sequence=VSP_012865; Name=8; IsoId=Q12959-8; Sequence=VSP_045896, VSP_045897; Note=No experimental confirmation available.; Name=9; IsoId=Q12959-9; Sequence=VSP_045896, VSP_045897, VSP_012865, VSP_045898; Note=No experimental confirmation available.; # AltName DLG1_HUMAN Synapse-associated protein 97 # AltName DLG1_HUMAN hDlg # BioGrid 108083 57 # CCDS CCDS3327 -. [Q12959-2] # CCDS CCDS43194 -. [Q12959-1] # CCDS CCDS56300 -. [Q12959-8] # CCDS CCDS56301 -. [Q12959-9] # ChiTaRS DLG1 human # DOMAIN DLG1_HUMAN The L27 domain may regulate DLG1 self-association. The N- terminal alternatively spliced region is capable of binding several SH3 domains and also moderates the level of protein oligomerization. # DOMAIN DLG1_HUMAN The PDZ domains may also mediate association to membranes by binding to EPB41 and ADGRA2 together with the L27 domain that binds CASK and DLG2. # DOMAIN DLG1_HUMAN The alternatively spliced domain I3 corresponding to amino acids (636-669) of isoform 4 is an EPB41 binding site mediating association to membranes in polarized and non-polarized cells. # Ensembl ENST00000346964 ENSP00000345731; ENSG00000075711. [Q12959-2] # Ensembl ENST00000392382 ENSP00000376187; ENSG00000075711. [Q12959-3] # Ensembl ENST00000419354 ENSP00000407531; ENSG00000075711. [Q12959-1] # Ensembl ENST00000422288 ENSP00000413238; ENSG00000075711. [Q12959-5] # Ensembl ENST00000443183 ENSP00000396658; ENSG00000075711. [Q12959-9] # Ensembl ENST00000448528 ENSP00000391732; ENSG00000075711. [Q12959-1] # Ensembl ENST00000450955 ENSP00000411278; ENSG00000075711. [Q12959-4] # Ensembl ENST00000452595 ENSP00000398939; ENSG00000075711. [Q12959-8] # ExpressionAtlas Q12959 baseline and differential # FUNCTION DLG1_HUMAN Essential multidomain scaffolding protein required for normal development (By similarity). Recruits channels, receptors and signaling molecules to discrete plasma membrane domains in polarized cells. May play a role in adherens junction assembly, signal transduction, cell proliferation, synaptogenesis and lymphocyte activation. Regulates the excitability of cardiac myocytes by modulating the functional expression of Kv4 channels. Functional regulator of Kv1.5 channel. {ECO 0000250, ECO 0000269|PubMed 10656683, ECO 0000269|PubMed 12445884, ECO 0000269|PubMed 14699157, ECO 0000269|PubMed 15263016, ECO 0000269|PubMed 19213956, ECO 0000269|PubMed 20605917}. # GO_component GO:0001772 immunological synapse; IDA:UniProtKB. # GO_component GO:0005605 basal lamina; IEA:Ensembl. # GO_component GO:0005634 nucleus; IDA:BHF-UCL. # GO_component GO:0005737 cytoplasm; IDA:UniProtKB. # GO_component GO:0005783 endoplasmic reticulum; IDA:UniProtKB. # GO_component GO:0005789 endoplasmic reticulum membrane; IEA:UniProtKB-SubCell. # GO_component GO:0005794 Golgi apparatus; IDA:UniProtKB. # GO_component GO:0005829 cytosol; TAS:Reactome. # GO_component GO:0005874 microtubule; IDA:UniProtKB. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005911 cell-cell junction; IDA:UniProtKB. # GO_component GO:0005913 cell-cell adherens junction; IDA:BHF-UCL. # GO_component GO:0005923 bicellular tight junction; IDA:BHF-UCL. # GO_component GO:0009898 cytoplasmic side of plasma membrane; IDA:UniProtKB. # GO_component GO:0014069 postsynaptic density; IBA:GO_Central. # GO_component GO:0014704 intercalated disc; TAS:BHF-UCL. # GO_component GO:0016323 basolateral plasma membrane; IDA:UniProtKB. # GO_component GO:0016328 lateral plasma membrane; IEA:Ensembl. # GO_component GO:0030054 cell junction; IDA:UniProtKB. # GO_component GO:0031253 cell projection membrane; IEA:Ensembl. # GO_component GO:0031594 neuromuscular junction; IEA:Ensembl. # GO_component GO:0033268 node of Ranvier; IEA:Ensembl. # GO_component GO:0035748 myelin sheath abaxonal region; IEA:Ensembl. # GO_component GO:0042383 sarcolemma; IEA:UniProtKB-SubCell. # GO_component GO:0043219 lateral loop; IEA:Ensembl. # GO_component GO:0045121 membrane raft; IEA:Ensembl. # GO_component GO:0045211 postsynaptic membrane; IBA:GO_Central. # GO_component GO:0048471 perinuclear region of cytoplasm; IDA:UniProtKB. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_component GO:0097025 MPP7-DLG1-LIN7 complex; IDA:BHF-UCL. # GO_function GO:0004385 guanylate kinase activity; TAS:ProtInc. # GO_function GO:0004721 phosphoprotein phosphatase activity; TAS:UniProtKB. # GO_function GO:0008022 protein C-terminus binding; IPI:UniProtKB. # GO_function GO:0008092 cytoskeletal protein binding; TAS:ProtInc. # GO_function GO:0015276 ligand-gated ion channel activity; TAS:Reactome. # GO_function GO:0015459 potassium channel regulator activity; NAS:UniProtKB. # GO_function GO:0019901 protein kinase binding; IPI:UniProtKB. # GO_function GO:0019902 phosphatase binding; IPI:UniProtKB. # GO_function GO:0031434 mitogen-activated protein kinase kinase binding; IPI:UniProtKB. # GO_function GO:0035255 ionotropic glutamate receptor binding; IBA:GO_Central. # GO_function GO:0044325 ion channel binding; IPI:BHF-UCL. # GO_function GO:0097016 L27 domain binding; IPI:BHF-UCL. # GO_function GO:0098641 cadherin binding involved in cell-cell adhesion; IDA:BHF-UCL. # GO_process GO:0000122 negative regulation of transcription from RNA polymerase II promoter; IMP:UniProtKB. # GO_process GO:0001658 branching involved in ureteric bud morphogenesis; IEA:Ensembl. # GO_process GO:0001771 immunological synapse formation; IEA:Ensembl. # GO_process GO:0001935 endothelial cell proliferation; IDA:UniProtKB. # GO_process GO:0002088 lens development in camera-type eye; IEA:Ensembl. # GO_process GO:0002369 T cell cytokine production; IEA:Ensembl. # GO_process GO:0007015 actin filament organization; IDA:UniProtKB. # GO_process GO:0007093 mitotic cell cycle checkpoint; NAS:UniProtKB. # GO_process GO:0007163 establishment or maintenance of cell polarity; TAS:UniProtKB. # GO_process GO:0007268 chemical synaptic transmission; IBA:GO_Central. # GO_process GO:0007399 nervous system development; IBA:GO_Central. # GO_process GO:0008284 positive regulation of cell proliferation; IEA:Ensembl. # GO_process GO:0008360 regulation of cell shape; IMP:UniProtKB. # GO_process GO:0016032 viral process; IEA:UniProtKB-KW. # GO_process GO:0016337 single organismal cell-cell adhesion; IDA:UniProtKB. # GO_process GO:0030432 peristalsis; IEA:Ensembl. # GO_process GO:0030838 positive regulation of actin filament polymerization; IEA:Ensembl. # GO_process GO:0030866 cortical actin cytoskeleton organization; IDA:UniProtKB. # GO_process GO:0030953 astral microtubule organization; IMP:UniProtKB. # GO_process GO:0031579 membrane raft organization; IEA:Ensembl. # GO_process GO:0031641 regulation of myelination; IEA:Ensembl. # GO_process GO:0032147 activation of protein kinase activity; IEA:Ensembl. # GO_process GO:0034629 cellular protein complex localization; IMP:UniProtKB. # GO_process GO:0042110 T cell activation; IEA:Ensembl. # GO_process GO:0042130 negative regulation of T cell proliferation; IEA:Ensembl. # GO_process GO:0042391 regulation of membrane potential; IDA:BHF-UCL. # GO_process GO:0042982 amyloid precursor protein metabolic process; IEA:Ensembl. # GO_process GO:0043113 receptor clustering; IBA:GO_Central. # GO_process GO:0043268 positive regulation of potassium ion transport; IDA:BHF-UCL. # GO_process GO:0043622 cortical microtubule organization; IMP:UniProtKB. # GO_process GO:0045197 establishment or maintenance of epithelial cell apical/basal polarity; IBA:GO_Central. # GO_process GO:0045930 negative regulation of mitotic cell cycle; IMP:UniProtKB. # GO_process GO:0048608 reproductive structure development; IEA:Ensembl. # GO_process GO:0048704 embryonic skeletal system morphogenesis; IEA:Ensembl. # GO_process GO:0048745 smooth muscle tissue development; IEA:Ensembl. # GO_process GO:0050680 negative regulation of epithelial cell proliferation; IEA:Ensembl. # GO_process GO:0051660 establishment of centrosome localization; IMP:UniProtKB. # GO_process GO:0051898 negative regulation of protein kinase B signaling; IEA:Ensembl. # GO_process GO:0060022 hard palate development; IEA:Ensembl. # GO_process GO:0070373 negative regulation of ERK1 and ERK2 cascade; IMP:UniProtKB. # GO_process GO:0070830 bicellular tight junction assembly; IDA:BHF-UCL. # GO_process GO:0072659 protein localization to plasma membrane; IMP:BHF-UCL. # GO_process GO:0090004 positive regulation of establishment of protein localization to plasma membrane; IDA:BHF-UCL. # GO_process GO:0097120 receptor localization to synapse; IBA:GO_Central. # GO_process GO:1902305 regulation of sodium ion transmembrane transport; TAS:BHF-UCL. # GO_process GO:1903753 negative regulation of p38MAPK cascade; IMP:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_component GO:0005794 Golgi apparatus # GOslim_component GO:0005829 cytosol # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0008092 cytoskeletal protein binding # GOslim_function GO:0016301 kinase activity # GOslim_function GO:0016791 phosphatase activity # GOslim_function GO:0019899 enzyme binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0002376 immune system process # GOslim_process GO:0007009 plasma membrane organization # GOslim_process GO:0007010 cytoskeleton organization # GOslim_process GO:0007155 cell adhesion # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # GOslim_process GO:0008283 cell proliferation # GOslim_process GO:0022607 cellular component assembly # GOslim_process GO:0034330 cell junction organization # GOslim_process GO:0044403 symbiosis, encompassing mutualism through parasitism # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0061024 membrane organization # Gene3D 2.30.42.10 -; 3. # Gene3D 3.40.50.300 -; 2. # Genevisible Q12959 HS # HGNC HGNC:2900 DLG1 # INTERACTION DLG1_HUMAN P78536 ADAM17; NbExp=7; IntAct=EBI-357481, EBI-78188; Q96PE1 ADGRA2; NbExp=2; IntAct=EBI-357500, EBI-10893263; Q8IWK6-3 ADGRA3; NbExp=2; IntAct=EBI-357500, EBI-10949249; Q9Y297 BTRC; NbExp=2; IntAct=EBI-357481, EBI-307461; P31016 Dlg4 (xeno); NbExp=9; IntAct=EBI-357500, EBI-375655; O57125 E6 (xeno); NbExp=2; IntAct=EBI-357481, EBI-7461590; P03126 E6 (xeno); NbExp=2; IntAct=EBI-357481, EBI-1177242; P06463 E6 (xeno); NbExp=3; IntAct=EBI-357481, EBI-1186926; P36799 E6 (xeno); NbExp=2; IntAct=EBI-357481, EBI-7363822; Q9NQT8 KIF13B; NbExp=3; IntAct=EBI-357500, EBI-766408; O60333-3 KIF1B; NbExp=4; IntAct=EBI-357481, EBI-465669; P36507 MAP2K2; NbExp=10; IntAct=EBI-357481, EBI-1056930; Q9ICL1 se6 (xeno); NbExp=3; IntAct=EBI-357481, EBI-7461477; # IntAct Q12959 41 # InterPro IPR001452 SH3_domain # InterPro IPR001478 PDZ # InterPro IPR004172 L27_dom # InterPro IPR008144 Guanylate_kin-like_dom # InterPro IPR008145 GK/Ca_channel_bsu # InterPro IPR011511 SH3_2 # InterPro IPR015143 L27_1 # InterPro IPR016313 DLG1 # InterPro IPR019583 PDZ_assoc # InterPro IPR019590 DLG1_PEST_dom # InterPro IPR020590 Guanylate_kinase_CS # InterPro IPR027417 P-loop_NTPase # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko03036 Chromosome # KEGG_Pathway ko04390 Hippo signaling pathway # KEGG_Pathway ko04391 Hippo signaling pathway - fly # KEGG_Pathway ko04660 T cell receptor signaling pathway # KEGG_Pathway ko05166 HTLV-I infection # KEGG_Pathway ko05203 Viral carcinogenesis # MIM 601014 gene # Organism DLG1_HUMAN Homo sapiens (Human) # PDB 1PDR X-ray; 2.80 A; A=457-555 # PDB 2M3M NMR; -; A=318-406 # PDB 2OQS NMR; -; A=318-406 # PDB 2X7Z X-ray; 2.00 A; A=311-407 # PDB 3LRA X-ray; 2.95 A; A=2-65 # PDB 3RL7 X-ray; 2.30 A; A/B/C/D/E/F=220-317 # PDB 3RL8 X-ray; 2.20 A; A/B/C/D/E=315-410 # PDB 3W9Y X-ray; 2.20 A; A=712-904 # PDB 4AMH X-ray; 2.30 A; A/B=315-405 # PDB 4G69 X-ray; 2.00 A; A=310-407 # PIR I38756 I38756 # PIR I38757 I38757 # PIRSF PIRSF001741 MAGUK_DLGH # PROSITE PS00856 GUANYLATE_KINASE_1 # PROSITE PS50002 SH3 # PROSITE PS50052 GUANYLATE_KINASE_2 # PROSITE PS50106 PDZ; 3 # PROSITE PS51022 L27 # PTM DLG1_HUMAN Phosphorylated by MAPK12. Phosphorylation of Ser-232 regulates association with GRIN2A (By similarity). {ECO 0000250}. # Pfam PF00595 PDZ; 3 # Pfam PF00625 Guanylate_kin # Pfam PF07653 SH3_2 # Pfam PF09058 L27_1 # Pfam PF10600 PDZ_assoc # Pfam PF10608 MAGUK_N_PEST # Proteomes UP000005640 Chromosome 3 # Reactome R-HSA-399719 Trafficking of AMPA receptors # Reactome R-HSA-447038 NrCAM interactions # Reactome R-HSA-451308 Activation of Ca-permeable Kainate Receptor # Reactome R-HSA-8849932 SALM protein interactions at the synapses # RecName DLG1_HUMAN Disks large homolog 1 # RefSeq NP_001091894 NM_001098424.1. [Q12959-1] # RefSeq NP_001191315 NM_001204386.1 # RefSeq NP_001191316 NM_001204387.1. [Q12959-9] # RefSeq NP_001191317 NM_001204388.1. [Q12959-8] # RefSeq NP_001277912 NM_001290983.1. [Q12959-1] # RefSeq NP_004078 NM_004087.2. [Q12959-2] # RefSeq XP_005269346 XM_005269289.3. [Q12959-2] # RefSeq XP_011510804 XM_011512502.2. [Q12959-1] # RefSeq XP_011510805 XM_011512503.1 # RefSeq XP_011510807 XM_011512505.1. [Q12959-3] # RefSeq XP_011510808 XM_011512506.1. [Q12959-5] # RefSeq XP_016861289 XM_017005800.1. [Q12959-2] # RefSeq XP_016861290 XM_017005801.1. [Q12959-2] # RefSeq XP_016861291 XM_017005802.1. [Q12959-2] # RefSeq XP_016861292 XM_017005803.1. [Q12959-2] # RefSeq XP_016861294 XM_017005805.1. [Q12959-1] # RefSeq XP_016861295 XM_017005806.1. [Q12959-4] # RefSeq XP_016861296 XM_017005807.1. [Q12959-4] # RefSeq XP_016861297 XM_017005808.1. [Q12959-4] # RefSeq XP_016861298 XM_017005809.1. [Q12959-4] # RefSeq XP_016861299 XM_017005810.1 # RefSeq XP_016861305 XM_017005816.1. [Q12959-3] # RefSeq XP_016861306 XM_017005817.1. [Q12959-3] # RefSeq XP_016861307 XM_017005818.1. [Q12959-3] # RefSeq XP_016861308 XM_017005819.1. [Q12959-3] # RefSeq XP_016861309 XM_017005820.1. [Q12959-5] # SIMILARITY Belongs to the MAGUK family. {ECO 0000305}. # SIMILARITY Contains 1 L27 domain. {ECO:0000255|PROSITE- ProRule PRU00365}. # SIMILARITY Contains 1 SH3 domain. {ECO:0000255|PROSITE- ProRule PRU00192}. # SIMILARITY Contains 1 guanylate kinase-like domain. {ECO:0000255|PROSITE-ProRule PRU00100}. # SIMILARITY Contains 3 PDZ (DHR) domains. {ECO:0000255|PROSITE- ProRule PRU00143}. # SMART SM00072 GuKc # SMART SM00228 PDZ; 3 # SMART SM00326 SH3 # SMART SM00569 L27 # SMART SM01277 MAGUK_N_PEST # SUBCELLULAR LOCATION DLG1_HUMAN Membrane {ECO 0000250}; Peripheral membrane protein {ECO 0000250}. Basolateral cell membrane {ECO 0000250}. Endoplasmic reticulum membrane {ECO 0000250}. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO 0000250}. Cell junction, synapse. Cell membrane, sarcolemma. Note=Colocalizes with EPB41 at regions of intercellular contacts. Basolateral in epithelial cells. May also associate with endoplasmic reticulum membranes. Mainly found in neurons soma, moderately found at postsynaptic densities (By similarity). {ECO 0000250}. # SUBUNIT DLG1_HUMAN Homotetramer (Probable). Interacts (via guanylate kinase- like domain) with DLGAP1, DLGAP2, DLGAP3, DLGAP4 and MAP1A (By similarity). Interacts (via guanylate kinase-like domain) with KIF13B (PubMed 10859302). May interact with HTR2A (By similarity). Interacts (via PDZ domains) with GRIA1 (By similarity). Interacts (via PDZ domains) with GRIN2A (By similarity). Interacts (via PDZ domains) with KCND2 and KCND3 (PubMed 19213956). Interacts (via PDZ domains) with KCNA1, KCNA2, KCNA3 and KCNA4 (PubMed 7477295). Interacts (via PDZ domains) with ADGRA3 (PubMed 15021905). Interacts with KCNF1 (PubMed 12445884). Interacts with CAMK2 (By similarity). Interacts with cytoskeleton-associated protein EPB41 (PubMed 7937897, PubMed 8922391). Interacts with cytoskeleton- associated protein EZR (By similarity). Found in a complex with KCNA5 and CAV3 (By similarity). Found in a complex with APC and CTNNB1 (PubMed 8638125, PubMed 10656683). Interacts with CDH1 through binding to PIK3R1 (PubMed 14699157). Forms multiprotein complexes with CASK, LIN7A, LIN7B, LIN7C, APBA1, and KCNJ12 (By similarity). Interacts with TOPK (PubMed 10779557). Forms a tripartite complex composed of DLG1, MPP7 and LIN7 (LIN7A or LIN7C) (PubMed 17237226, PubMed 17332497, PubMed 20702775). May interact with TJAP1 (PubMed 11602598). Interacts with PTEN (By similarity). Interacts with FRMPD4 (via C-terminus) (PubMed 19118189). Interacts with LRFN1, LRFN2 and LRFN4 (PubMed 16630835). Interacts with SFPQ (PubMed 20605917). Interacts (via PDZ domains) with ADGRA2 (via PDZ-binding motif) (PubMed 15021905, PubMed 25558062). Interacts with the HTLV-1 viral Tax and HPV-18 E6 papillomavirus (HPV) oncoproteins (PubMed 9192623, PubMed 10557085). {ECO 0000250|UniProtKB Q62696, ECO 0000250|UniProtKB Q811D0, ECO 0000269|PubMed 10557085, ECO 0000269|PubMed 10656683, ECO 0000269|PubMed 10779557, ECO 0000269|PubMed 10859302, ECO 0000269|PubMed 12445884, ECO 0000269|PubMed 14699157, ECO 0000269|PubMed 15021905, ECO 0000269|PubMed 16630835, ECO 0000269|PubMed 17237226, ECO 0000269|PubMed 17332497, ECO 0000269|PubMed 19118189, ECO 0000269|PubMed 19213956, ECO 0000269|PubMed 20605917, ECO 0000269|PubMed 20702775, ECO 0000269|PubMed 25558062, ECO 0000269|PubMed 7477295, ECO 0000269|PubMed 7937897, ECO 0000269|PubMed 8638125, ECO 0000269|PubMed 8922391, ECO 0000269|PubMed 9192623, ECO 0000305}. # SUPFAM SSF101288 SSF101288 # SUPFAM SSF50044 SSF50044; 2 # SUPFAM SSF50156 SSF50156; 3 # SUPFAM SSF52540 SSF52540 # TISSUE SPECIFICITY DLG1_HUMAN Abundantly expressed in atrial myocardium (at protein level). Expressed in lung fibroblasts, cervical epithelial and B-cells (at protein level). Widely expressed, with isoforms displaying different expression profiles. {ECO 0000269|PubMed 12445884, ECO 0000269|PubMed 19213956, ECO 0000269|PubMed 7937897}. # UCSC uc003fxn human. [Q12959-1] # WEB RESOURCE DLG1_HUMAN Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http //atlasgeneticsoncology.org/Genes/DLG1ID40333ch3q29.html"; # eggNOG COG0194 LUCA # eggNOG KOG0708 Eukaryota BLAST swissprot:DLG1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:DLG1_HUMAN BioCyc ZFISH:ENSG00000075711-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000075711-MONOMER COXPRESdb 1739 http://coxpresdb.jp/data/gene/1739.shtml CleanEx HS_DLG1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_DLG1 DIP DIP-33957N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-33957N DOI 10.1002/bies.10286 http://dx.doi.org/10.1002/bies.10286 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1016/S0008-6363(02)00602-8 http://dx.doi.org/10.1016/S0008-6363(02)00602-8 DOI 10.1016/j.cell.2006.09.026 http://dx.doi.org/10.1016/j.cell.2006.09.026 DOI 10.1016/j.celrep.2014.12.020 http://dx.doi.org/10.1016/j.celrep.2014.12.020 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1016/j.neuron.2006.04.005 http://dx.doi.org/10.1016/j.neuron.2006.04.005 DOI 10.1021/pr0705441 http://dx.doi.org/10.1021/pr0705441 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/378085a0 http://dx.doi.org/10.1038/378085a0 DOI 10.1038/382649a0 http://dx.doi.org/10.1038/382649a0 DOI 10.1038/nature04728 http://dx.doi.org/10.1038/nature04728 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1038/sj.onc.1203008 http://dx.doi.org/10.1038/sj.onc.1203008 DOI 10.1038/sj.onc.1203309 http://dx.doi.org/10.1038/sj.onc.1203309 DOI 10.1038/sj.onc.1207495 http://dx.doi.org/10.1038/sj.onc.1207495 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1073/pnas.090102397 http://dx.doi.org/10.1073/pnas.090102397 DOI 10.1073/pnas.91.21.9818 http://dx.doi.org/10.1073/pnas.91.21.9818 DOI 10.1073/pnas.94.13.6670 http://dx.doi.org/10.1073/pnas.94.13.6670 DOI 10.1074/jbc.M000715200 http://dx.doi.org/10.1074/jbc.M000715200 DOI 10.1074/jbc.M107335200 http://dx.doi.org/10.1074/jbc.M107335200 DOI 10.1074/jbc.M108724200 http://dx.doi.org/10.1074/jbc.M108724200 DOI 10.1074/jbc.M305209200 http://dx.doi.org/10.1074/jbc.M305209200 DOI 10.1074/jbc.M309843200 http://dx.doi.org/10.1074/jbc.M309843200 DOI 10.1074/jbc.M610002200 http://dx.doi.org/10.1074/jbc.M610002200 DOI 10.1083/jcb.135.4.1125 http://dx.doi.org/10.1083/jcb.135.4.1125 DOI 10.1083/jcb.200309044 http://dx.doi.org/10.1083/jcb.200309044 DOI 10.1091/mbc.E06-11-0980 http://dx.doi.org/10.1091/mbc.E06-11-0980 DOI 10.1096/fj.10-163857 http://dx.doi.org/10.1096/fj.10-163857 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.272.5264.1020 http://dx.doi.org/10.1126/science.272.5264.1020 DOI 10.1126/scisignal.2000007 http://dx.doi.org/10.1126/scisignal.2000007 DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 DOI 10.1161/CIRCRESAHA.108.191007 http://dx.doi.org/10.1161/CIRCRESAHA.108.191007 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DOI 10.1242/jcs.066514 http://dx.doi.org/10.1242/jcs.066514 DOI 10.1523/JNEUROSCI.3112-08.2008 http://dx.doi.org/10.1523/JNEUROSCI.3112-08.2008 EMBL AC068302 http://www.ebi.ac.uk/ena/data/view/AC068302 EMBL AC092937 http://www.ebi.ac.uk/ena/data/view/AC092937 EMBL AK294772 http://www.ebi.ac.uk/ena/data/view/AK294772 EMBL AK294855 http://www.ebi.ac.uk/ena/data/view/AK294855 EMBL BC140841 http://www.ebi.ac.uk/ena/data/view/BC140841 EMBL BC144651 http://www.ebi.ac.uk/ena/data/view/BC144651 EMBL CH471191 http://www.ebi.ac.uk/ena/data/view/CH471191 EMBL CH471191 http://www.ebi.ac.uk/ena/data/view/CH471191 EMBL CH471191 http://www.ebi.ac.uk/ena/data/view/CH471191 EMBL CH471191 http://www.ebi.ac.uk/ena/data/view/CH471191 EMBL EF553524 http://www.ebi.ac.uk/ena/data/view/EF553524 EMBL U13896 http://www.ebi.ac.uk/ena/data/view/U13896 EMBL U13897 http://www.ebi.ac.uk/ena/data/view/U13897 Ensembl ENST00000346964 http://www.ensembl.org/id/ENST00000346964 Ensembl ENST00000392382 http://www.ensembl.org/id/ENST00000392382 Ensembl ENST00000419354 http://www.ensembl.org/id/ENST00000419354 Ensembl ENST00000422288 http://www.ensembl.org/id/ENST00000422288 Ensembl ENST00000443183 http://www.ensembl.org/id/ENST00000443183 Ensembl ENST00000448528 http://www.ensembl.org/id/ENST00000448528 Ensembl ENST00000450955 http://www.ensembl.org/id/ENST00000450955 Ensembl ENST00000452595 http://www.ensembl.org/id/ENST00000452595 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0001772 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001772 GO_component GO:0005605 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005605 GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GO_component GO:0005789 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005789 GO_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0005874 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005874 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005911 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005911 GO_component GO:0005913 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005913 GO_component GO:0005923 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005923 GO_component GO:0009898 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009898 GO_component GO:0014069 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014069 GO_component GO:0014704 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014704 GO_component GO:0016323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016323 GO_component GO:0016328 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016328 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0031253 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031253 GO_component GO:0031594 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031594 GO_component GO:0033268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033268 GO_component GO:0035748 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035748 GO_component GO:0042383 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042383 GO_component GO:0043219 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043219 GO_component GO:0045121 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045121 GO_component GO:0045211 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045211 GO_component GO:0048471 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048471 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_component GO:0097025 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097025 GO_function GO:0004385 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004385 GO_function GO:0004721 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004721 GO_function GO:0008022 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008022 GO_function GO:0008092 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008092 GO_function GO:0015276 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015276 GO_function GO:0015459 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015459 GO_function GO:0019901 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019901 GO_function GO:0019902 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019902 GO_function GO:0031434 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031434 GO_function GO:0035255 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035255 GO_function GO:0044325 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044325 GO_function GO:0097016 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097016 GO_function GO:0098641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0098641 GO_process GO:0000122 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000122 GO_process GO:0001658 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001658 GO_process GO:0001771 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001771 GO_process GO:0001935 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001935 GO_process GO:0002088 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002088 GO_process GO:0002369 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002369 GO_process GO:0007015 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007015 GO_process GO:0007093 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007093 GO_process GO:0007163 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007163 GO_process GO:0007268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007268 GO_process GO:0007399 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007399 GO_process GO:0008284 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008284 GO_process GO:0008360 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008360 GO_process GO:0016032 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016032 GO_process GO:0016337 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016337 GO_process GO:0030432 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030432 GO_process GO:0030838 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030838 GO_process GO:0030866 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030866 GO_process GO:0030953 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030953 GO_process GO:0031579 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031579 GO_process GO:0031641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031641 GO_process GO:0032147 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032147 GO_process GO:0034629 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034629 GO_process GO:0042110 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042110 GO_process GO:0042130 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042130 GO_process GO:0042391 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042391 GO_process GO:0042982 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042982 GO_process GO:0043113 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043113 GO_process GO:0043268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043268 GO_process GO:0043622 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043622 GO_process GO:0045197 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045197 GO_process GO:0045930 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045930 GO_process GO:0048608 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048608 GO_process GO:0048704 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048704 GO_process GO:0048745 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048745 GO_process GO:0050680 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050680 GO_process GO:0051660 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051660 GO_process GO:0051898 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051898 GO_process GO:0060022 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060022 GO_process GO:0070373 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070373 GO_process GO:0070830 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070830 GO_process GO:0072659 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0072659 GO_process GO:0090004 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090004 GO_process GO:0097120 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097120 GO_process GO:1902305 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902305 GO_process GO:1903753 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903753 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0008092 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008092 GOslim_function GO:0016301 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016301 GOslim_function GO:0016791 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016791 GOslim_function GO:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0002376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002376 GOslim_process GO:0007009 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007009 GOslim_process GO:0007010 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007010 GOslim_process GO:0007155 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007155 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0008283 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008283 GOslim_process GO:0022607 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022607 GOslim_process GO:0034330 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034330 GOslim_process GO:0044403 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044403 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0061024 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061024 Gene3D 2.30.42.10 http://www.cathdb.info/version/latest/superfamily/2.30.42.10 Gene3D 3.40.50.300 http://www.cathdb.info/version/latest/superfamily/3.40.50.300 GeneCards DLG1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=DLG1 GeneID 1739 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=1739 GeneTree ENSGT00760000118866 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118866 HGNC HGNC:2900 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:2900 HOGENOM HOG000232102 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000232102&db=HOGENOM6 HOVERGEN HBG107814 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG107814&db=HOVERGEN HPA CAB016307 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB016307 HPA HPA069593 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA069593 InParanoid Q12959 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q12959 IntAct Q12959 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q12959* InterPro IPR001452 http://www.ebi.ac.uk/interpro/entry/IPR001452 InterPro IPR001478 http://www.ebi.ac.uk/interpro/entry/IPR001478 InterPro IPR004172 http://www.ebi.ac.uk/interpro/entry/IPR004172 InterPro IPR008144 http://www.ebi.ac.uk/interpro/entry/IPR008144 InterPro IPR008145 http://www.ebi.ac.uk/interpro/entry/IPR008145 InterPro IPR011511 http://www.ebi.ac.uk/interpro/entry/IPR011511 InterPro IPR015143 http://www.ebi.ac.uk/interpro/entry/IPR015143 InterPro IPR016313 http://www.ebi.ac.uk/interpro/entry/IPR016313 InterPro IPR019583 http://www.ebi.ac.uk/interpro/entry/IPR019583 InterPro IPR019590 http://www.ebi.ac.uk/interpro/entry/IPR019590 InterPro IPR020590 http://www.ebi.ac.uk/interpro/entry/IPR020590 InterPro IPR027417 http://www.ebi.ac.uk/interpro/entry/IPR027417 Jabion 1739 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=1739 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko03036 http://www.genome.jp/dbget-bin/www_bget?ko03036 KEGG_Gene hsa:1739 http://www.genome.jp/dbget-bin/www_bget?hsa:1739 KEGG_Orthology KO:K12076 http://www.genome.jp/dbget-bin/www_bget?KO:K12076 KEGG_Pathway ko04390 http://www.genome.jp/kegg-bin/show_pathway?ko04390 KEGG_Pathway ko04391 http://www.genome.jp/kegg-bin/show_pathway?ko04391 KEGG_Pathway ko04660 http://www.genome.jp/kegg-bin/show_pathway?ko04660 KEGG_Pathway ko05166 http://www.genome.jp/kegg-bin/show_pathway?ko05166 KEGG_Pathway ko05203 http://www.genome.jp/kegg-bin/show_pathway?ko05203 MIM 601014 http://www.ncbi.nlm.nih.gov/omim/601014 MINT MINT-107690 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-107690 OMA THEHAVT http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=THEHAVT OrthoDB EOG091G0BB1 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0BB1 PDB 1PDR http://www.ebi.ac.uk/pdbe-srv/view/entry/1PDR PDB 2M3M http://www.ebi.ac.uk/pdbe-srv/view/entry/2M3M PDB 2OQS http://www.ebi.ac.uk/pdbe-srv/view/entry/2OQS PDB 2X7Z http://www.ebi.ac.uk/pdbe-srv/view/entry/2X7Z PDB 3LRA http://www.ebi.ac.uk/pdbe-srv/view/entry/3LRA PDB 3RL7 http://www.ebi.ac.uk/pdbe-srv/view/entry/3RL7 PDB 3RL8 http://www.ebi.ac.uk/pdbe-srv/view/entry/3RL8 PDB 3W9Y http://www.ebi.ac.uk/pdbe-srv/view/entry/3W9Y PDB 4AMH http://www.ebi.ac.uk/pdbe-srv/view/entry/4AMH PDB 4G69 http://www.ebi.ac.uk/pdbe-srv/view/entry/4G69 PDBsum 1PDR http://www.ebi.ac.uk/pdbsum/1PDR PDBsum 2M3M http://www.ebi.ac.uk/pdbsum/2M3M PDBsum 2OQS http://www.ebi.ac.uk/pdbsum/2OQS PDBsum 2X7Z http://www.ebi.ac.uk/pdbsum/2X7Z PDBsum 3LRA http://www.ebi.ac.uk/pdbsum/3LRA PDBsum 3RL7 http://www.ebi.ac.uk/pdbsum/3RL7 PDBsum 3RL8 http://www.ebi.ac.uk/pdbsum/3RL8 PDBsum 3W9Y http://www.ebi.ac.uk/pdbsum/3W9Y PDBsum 4AMH http://www.ebi.ac.uk/pdbsum/4AMH PDBsum 4G69 http://www.ebi.ac.uk/pdbsum/4G69 PROSITE PS00856 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00856 PROSITE PS50002 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50002 PROSITE PS50052 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50052 PROSITE PS50106 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50106 PROSITE PS51022 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51022 PSORT swissprot:DLG1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:DLG1_HUMAN PSORT-B swissprot:DLG1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:DLG1_HUMAN PSORT2 swissprot:DLG1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:DLG1_HUMAN Pfam PF00595 http://pfam.xfam.org/family/PF00595 Pfam PF00625 http://pfam.xfam.org/family/PF00625 Pfam PF07653 http://pfam.xfam.org/family/PF07653 Pfam PF09058 http://pfam.xfam.org/family/PF09058 Pfam PF10600 http://pfam.xfam.org/family/PF10600 Pfam PF10608 http://pfam.xfam.org/family/PF10608 PharmGKB PA27356 http://www.pharmgkb.org/do/serve?objId=PA27356&objCls=Gene Phobius swissprot:DLG1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:DLG1_HUMAN PhylomeDB Q12959 http://phylomedb.org/?seqid=Q12959 ProteinModelPortal Q12959 http://www.proteinmodelportal.org/query/uniprot/Q12959 PubMed 10557085 http://www.ncbi.nlm.nih.gov/pubmed/10557085 PubMed 10656683 http://www.ncbi.nlm.nih.gov/pubmed/10656683 PubMed 10779557 http://www.ncbi.nlm.nih.gov/pubmed/10779557 PubMed 10859302 http://www.ncbi.nlm.nih.gov/pubmed/10859302 PubMed 11602598 http://www.ncbi.nlm.nih.gov/pubmed/11602598 PubMed 11723125 http://www.ncbi.nlm.nih.gov/pubmed/11723125 PubMed 12445884 http://www.ncbi.nlm.nih.gov/pubmed/12445884 PubMed 12766944 http://www.ncbi.nlm.nih.gov/pubmed/12766944 PubMed 12807908 http://www.ncbi.nlm.nih.gov/pubmed/12807908 PubMed 14699157 http://www.ncbi.nlm.nih.gov/pubmed/14699157 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15021905 http://www.ncbi.nlm.nih.gov/pubmed/15021905 PubMed 15263016 http://www.ncbi.nlm.nih.gov/pubmed/15263016 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16630835 http://www.ncbi.nlm.nih.gov/pubmed/16630835 PubMed 16641997 http://www.ncbi.nlm.nih.gov/pubmed/16641997 PubMed 17081983 http://www.ncbi.nlm.nih.gov/pubmed/17081983 PubMed 17237226 http://www.ncbi.nlm.nih.gov/pubmed/17237226 PubMed 17332497 http://www.ncbi.nlm.nih.gov/pubmed/17332497 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 PubMed 18220336 http://www.ncbi.nlm.nih.gov/pubmed/18220336 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 19118189 http://www.ncbi.nlm.nih.gov/pubmed/19118189 PubMed 19213956 http://www.ncbi.nlm.nih.gov/pubmed/19213956 PubMed 19690332 http://www.ncbi.nlm.nih.gov/pubmed/19690332 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 20605917 http://www.ncbi.nlm.nih.gov/pubmed/20605917 PubMed 20702775 http://www.ncbi.nlm.nih.gov/pubmed/20702775 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 25558062 http://www.ncbi.nlm.nih.gov/pubmed/25558062 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 7477295 http://www.ncbi.nlm.nih.gov/pubmed/7477295 PubMed 7937897 http://www.ncbi.nlm.nih.gov/pubmed/7937897 PubMed 8638125 http://www.ncbi.nlm.nih.gov/pubmed/8638125 PubMed 8757139 http://www.ncbi.nlm.nih.gov/pubmed/8757139 PubMed 8922391 http://www.ncbi.nlm.nih.gov/pubmed/8922391 PubMed 9192623 http://www.ncbi.nlm.nih.gov/pubmed/9192623 Reactome R-HSA-399719 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-399719 Reactome R-HSA-447038 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-447038 Reactome R-HSA-451308 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-451308 Reactome R-HSA-8849932 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-8849932 RefSeq NP_001091894 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001091894 RefSeq NP_001191315 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001191315 RefSeq NP_001191316 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001191316 RefSeq NP_001191317 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001191317 RefSeq NP_001277912 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001277912 RefSeq NP_004078 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004078 RefSeq XP_005269346 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005269346 RefSeq XP_011510804 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011510804 RefSeq XP_011510805 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011510805 RefSeq XP_011510807 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011510807 RefSeq XP_011510808 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011510808 RefSeq XP_016861289 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016861289 RefSeq XP_016861290 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016861290 RefSeq XP_016861291 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016861291 RefSeq XP_016861292 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016861292 RefSeq XP_016861294 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016861294 RefSeq XP_016861295 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016861295 RefSeq XP_016861296 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016861296 RefSeq XP_016861297 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016861297 RefSeq XP_016861298 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016861298 RefSeq XP_016861299 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016861299 RefSeq XP_016861305 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016861305 RefSeq XP_016861306 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016861306 RefSeq XP_016861307 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016861307 RefSeq XP_016861308 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016861308 RefSeq XP_016861309 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016861309 SMART SM00072 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00072 SMART SM00228 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00228 SMART SM00326 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00326 SMART SM00569 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00569 SMART SM01277 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM01277 SMR Q12959 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q12959 STRING 9606.ENSP00000345731 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000345731&targetmode=cogs SUPFAM SSF101288 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF101288 SUPFAM SSF50044 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF50044 SUPFAM SSF50156 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF50156 SUPFAM SSF52540 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52540 UCSC uc003fxn http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003fxn&org=rat UniGene Hs.292549 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.292549 UniProtKB DLG1_HUMAN http://www.uniprot.org/uniprot/DLG1_HUMAN UniProtKB-AC Q12959 http://www.uniprot.org/uniprot/Q12959 charge swissprot:DLG1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:DLG1_HUMAN eggNOG COG0194 http://eggnogapi.embl.de/nog_data/html/tree/COG0194 eggNOG KOG0708 http://eggnogapi.embl.de/nog_data/html/tree/KOG0708 epestfind swissprot:DLG1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:DLG1_HUMAN garnier swissprot:DLG1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:DLG1_HUMAN helixturnhelix swissprot:DLG1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:DLG1_HUMAN hmoment swissprot:DLG1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:DLG1_HUMAN iep swissprot:DLG1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:DLG1_HUMAN inforesidue swissprot:DLG1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:DLG1_HUMAN neXtProt NX_Q12959 http://www.nextprot.org/db/entry/NX_Q12959 octanol swissprot:DLG1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:DLG1_HUMAN pepcoil swissprot:DLG1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:DLG1_HUMAN pepdigest swissprot:DLG1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:DLG1_HUMAN pepinfo swissprot:DLG1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:DLG1_HUMAN pepnet swissprot:DLG1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:DLG1_HUMAN pepstats swissprot:DLG1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:DLG1_HUMAN pepwheel swissprot:DLG1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:DLG1_HUMAN pepwindow swissprot:DLG1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:DLG1_HUMAN sigcleave swissprot:DLG1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:DLG1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S12A6_HUMAN Event=Alternative promoter usage, Alternative splicing; Named isoforms=6; Name=1; Synonyms=KCC3a; IsoId=Q9UHW9-1; Sequence=Displayed; Name=2; Synonyms=KCC3b; IsoId=Q9UHW9-2; Sequence=VSP_006115, VSP_006116; Note=Produced by alternative promoter usage.; Name=3; Synonyms=KCC3a-X2M; IsoId=Q9UHW9-3; Sequence=VSP_041389; Note=Does not differ in the osmotic set point of swelling activation but, activation is more rapid.; Name=4; Synonyms=KCC3a-S3; IsoId=Q9UHW9-4; Sequence=VSP_041388; Name=5; Synonyms=KCC3a-S, KCC3a-S1, KCC3a-S2; IsoId=Q9UHW9-5; Sequence=VSP_041387; Note=Does not differ in the osmotic set point of swelling activation but, activation is more rapid.; Name=6; Synonyms=KCC3b-X2M; IsoId=Q9UHW9-6; Sequence=VSP_006115, VSP_006116, VSP_041389; # AltName S12A6_HUMAN Electroneutral potassium-chloride cotransporter 3 # AltName S12A6_HUMAN K-Cl cotransporter 3 # BIOPHYSICOCHEMICAL PROPERTIES S12A6_HUMAN Kinetic parameters KM=10.7 mM for extracellular Rb(+) (isoform 1) {ECO 0000269|PubMed 16048901}; KM=7.3 mM for extracellular Cl(-) (isoform 1) {ECO 0000269|PubMed 16048901}; KM=17.2 mM for extracellular Rb(+) (isoform 2) {ECO 0000269|PubMed 16048901}; KM=8.2 mM for extracellular Cl(-) (isoform 2) {ECO 0000269|PubMed 16048901}; # BioGrid 115311 14 # CCDS CCDS10036 -. [Q9UHW9-2] # CCDS CCDS42010 -. [Q9UHW9-3] # CCDS CCDS42011 -. [Q9UHW9-4] # CCDS CCDS42012 -. [Q9UHW9-5] # CCDS CCDS58352 -. [Q9UHW9-1] # ChiTaRS SLC12A6 human # DISEASE S12A6_HUMAN Agenesis of the corpus callosum, with peripheral neuropathy (ACCPN) [MIM 218000] A disease that is characterized by severe progressive sensorimotor neuropathy, mental retardation, dysmorphic features and complete or partial agenesis of the corpus callosum. Note=The disease is caused by mutations affecting the gene represented in this entry. # DrugBank DB00761 Potassium Chloride # ENZYME REGULATION Activated by N-ethylmaleimide (NEM). Inhibited by DIOA, bumetanide and furosemide. Inhibited by WNK3. {ECO:0000269|PubMed 21613606}. # Ensembl ENST00000290209 ENSP00000290209; ENSG00000140199. [Q9UHW9-2] # Ensembl ENST00000354181 ENSP00000346112; ENSG00000140199. [Q9UHW9-1] # Ensembl ENST00000397702 ENSP00000380814; ENSG00000140199. [Q9UHW9-5] # Ensembl ENST00000397707 ENSP00000380819; ENSG00000140199. [Q9UHW9-3] # Ensembl ENST00000458406 ENSP00000387725; ENSG00000140199. [Q9UHW9-5] # Ensembl ENST00000558589 ENSP00000452776; ENSG00000140199. [Q9UHW9-4] # Ensembl ENST00000558667 ENSP00000453473; ENSG00000140199. [Q9UHW9-1] # Ensembl ENST00000560611 ENSP00000454168; ENSG00000140199. [Q9UHW9-1] # ExpressionAtlas Q9UHW9 baseline and differential # FUNCTION S12A6_HUMAN Mediates electroneutral potassium-chloride cotransport. May be activated by cell swelling. May contribute to cell volume homeostasis in single cells. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IEA:InterPro. # GO_component GO:0016021 integral component of membrane; NAS:UniProtKB. # GO_component GO:0016323 basolateral plasma membrane; ISS:UniProtKB. # GO_function GO:0015079 potassium ion transmembrane transporter activity; IDA:ParkinsonsUK-UCL. # GO_function GO:0019901 protein kinase binding; IPI:ParkinsonsUK-UCL. # GO_function GO:0022820 potassium ion symporter activity; IBA:GO_Central. # GO_function GO:0035827 rubidium ion transmembrane transporter activity; IMP:ParkinsonsUK-UCL. # GO_function S12A6_HUMAN GO 0015379 potassium chloride symporter activity; IDA UniProtKB. # GO_process GO:0001525 angiogenesis; NAS:UniProtKB. # GO_process GO:0006811 ion transport; IDA:UniProtKB. # GO_process GO:0007268 chemical synaptic transmission; IBA:GO_Central. # GO_process GO:0010107 potassium ion import; IDA:ParkinsonsUK-UCL. # GO_process GO:0035826 rubidium ion transport; IMP:ParkinsonsUK-UCL. # GO_process GO:0071476 cellular hypotonic response; IMP:ParkinsonsUK-UCL. # GO_process GO:0071477 cellular hypotonic salinity response; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0019899 enzyme binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0048646 anatomical structure formation involved in morphogenesis # GOslim_process GO:0055085 transmembrane transport # Genevisible Q9UHW9 HS # HGNC HGNC:10914 SLC12A6 # INDUCTION S12A6_HUMAN Up-regulated by VEGF. Down-regulated by TNF. # IntAct Q9UHW9 4 # InterPro IPR000076 KCL_cotranspt # InterPro IPR004841 AA-permease/SLC12A_dom # InterPro IPR004842 SLC12A_fam # InterPro IPR018491 SLC12_C # InterPro IPR030364 KCC3 # KEGG_Brite ko02001 Solute carrier family # KEGG_Disease H00816 [Neurodegenerative disease] Agenesis of the corpus callosum with peripheral neuropathy (ACCPN) # MIM 218000 phenotype # MIM 604878 gene # Organism S12A6_HUMAN Homo sapiens (Human) # Orphanet 1496 Corpus callosum agenesis - neuronopathy # PANTHER PTHR11827:SF66 PTHR11827:SF66; 4 # PIR T17275 T17275 # PRINTS PR01081 KCLTRNSPORT # PTM S12A6_HUMAN N-glycosylated. {ECO 0000269|PubMed 10187864, ECO 0000269|PubMed 12368912}. # Pfam PF00324 AA_permease; 2 # Pfam PF03522 SLC12; 2 # Proteomes UP000005640 Chromosome 15 # Reactome R-HSA-426117 Cation-coupled Chloride cotransporters # RecName S12A6_HUMAN Solute carrier family 12 member 6 # RefSeq NP_001035959 NM_001042494.1. [Q9UHW9-5] # RefSeq NP_001035960 NM_001042495.1. [Q9UHW9-5] # RefSeq NP_001035961 NM_001042496.1. [Q9UHW9-4] # RefSeq NP_001035962 NM_001042497.1. [Q9UHW9-3] # RefSeq NP_005126 NM_005135.2. [Q9UHW9-2] # RefSeq NP_598408 NM_133647.1. [Q9UHW9-1] # SIMILARITY Belongs to the SLC12A transporter family. {ECO 0000305}. # SUBCELLULAR LOCATION S12A6_HUMAN Basolateral cell membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. # SUBUNIT Homomultimer and heteromultimer with other K-Cl cotransporters. {ECO 0000250}. # TCDB 2.A.30.5 the cation-chloride cotransporter (ccc) family # TIGRFAMs TIGR00930 2a30 # TISSUE SPECIFICITY Highly expressed in heart, brain and kidney. Detected at lower levels in skeletal muscle, placenta, lung and pancreas. Detected in umbilical vein endothelial cells. Isoform 2 is more abundant in kidney. Isoform 5 is testis specific. Expressed in the proximal tubule of the kidney (at protein level). {ECO:0000269|PubMed 16048901}. # UCSC uc001zhv human. [Q9UHW9-1] # eggNOG COG0531 LUCA # eggNOG KOG2082 Eukaryota BLAST swissprot:S12A6_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S12A6_HUMAN BioCyc ZFISH:ENSG00000140199-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000140199-MONOMER COXPRESdb 9990 http://coxpresdb.jp/data/gene/9990.shtml CleanEx HS_SLC12A6 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC12A6 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature04601 http://dx.doi.org/10.1038/nature04601 DOI 10.1038/ng1002 http://dx.doi.org/10.1038/ng1002 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1074/jbc.274.15.10661 http://dx.doi.org/10.1074/jbc.274.15.10661 DOI 10.1074/jbc.274.23.16355 http://dx.doi.org/10.1074/jbc.274.23.16355 DOI 10.1074/jbc.M107155200 http://dx.doi.org/10.1074/jbc.M107155200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/scisignal.2000007 http://dx.doi.org/10.1126/scisignal.2000007 DOI 10.1126/scisignal.2001570 http://dx.doi.org/10.1126/scisignal.2001570 DOI 10.1152/ajpcell.00070.2011 http://dx.doi.org/10.1152/ajpcell.00070.2011 DOI 10.1152/ajprenal.00464.2004 http://dx.doi.org/10.1152/ajprenal.00464.2004 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 DrugBank DB00761 http://www.drugbank.ca/drugs/DB00761 EMBL AC021822 http://www.ebi.ac.uk/ena/data/view/AC021822 EMBL AC079203 http://www.ebi.ac.uk/ena/data/view/AC079203 EMBL AF105366 http://www.ebi.ac.uk/ena/data/view/AF105366 EMBL AF108831 http://www.ebi.ac.uk/ena/data/view/AF108831 EMBL AF116242 http://www.ebi.ac.uk/ena/data/view/AF116242 EMBL AF314931 http://www.ebi.ac.uk/ena/data/view/AF314931 EMBL AF314932 http://www.ebi.ac.uk/ena/data/view/AF314932 EMBL AF314933 http://www.ebi.ac.uk/ena/data/view/AF314933 EMBL AF314933 http://www.ebi.ac.uk/ena/data/view/AF314933 EMBL AF314934 http://www.ebi.ac.uk/ena/data/view/AF314934 EMBL AF314934 http://www.ebi.ac.uk/ena/data/view/AF314934 EMBL AF314935 http://www.ebi.ac.uk/ena/data/view/AF314935 EMBL AF314935 http://www.ebi.ac.uk/ena/data/view/AF314935 EMBL AF314936 http://www.ebi.ac.uk/ena/data/view/AF314936 EMBL AF314936 http://www.ebi.ac.uk/ena/data/view/AF314936 EMBL AF314937 http://www.ebi.ac.uk/ena/data/view/AF314937 EMBL AF314937 http://www.ebi.ac.uk/ena/data/view/AF314937 EMBL AF314938 http://www.ebi.ac.uk/ena/data/view/AF314938 EMBL AF314938 http://www.ebi.ac.uk/ena/data/view/AF314938 EMBL AF314939 http://www.ebi.ac.uk/ena/data/view/AF314939 EMBL AF314939 http://www.ebi.ac.uk/ena/data/view/AF314939 EMBL AF314940 http://www.ebi.ac.uk/ena/data/view/AF314940 EMBL AF314940 http://www.ebi.ac.uk/ena/data/view/AF314940 EMBL AF314941 http://www.ebi.ac.uk/ena/data/view/AF314941 EMBL AF314941 http://www.ebi.ac.uk/ena/data/view/AF314941 EMBL AF314942 http://www.ebi.ac.uk/ena/data/view/AF314942 EMBL AF314942 http://www.ebi.ac.uk/ena/data/view/AF314942 EMBL AF314943 http://www.ebi.ac.uk/ena/data/view/AF314943 EMBL AF314943 http://www.ebi.ac.uk/ena/data/view/AF314943 EMBL AF314944 http://www.ebi.ac.uk/ena/data/view/AF314944 EMBL AF314944 http://www.ebi.ac.uk/ena/data/view/AF314944 EMBL AF314945 http://www.ebi.ac.uk/ena/data/view/AF314945 EMBL AF314945 http://www.ebi.ac.uk/ena/data/view/AF314945 EMBL AF314946 http://www.ebi.ac.uk/ena/data/view/AF314946 EMBL AF314946 http://www.ebi.ac.uk/ena/data/view/AF314946 EMBL AF314947 http://www.ebi.ac.uk/ena/data/view/AF314947 EMBL AF314947 http://www.ebi.ac.uk/ena/data/view/AF314947 EMBL AF314948 http://www.ebi.ac.uk/ena/data/view/AF314948 EMBL AF314948 http://www.ebi.ac.uk/ena/data/view/AF314948 EMBL AF314949 http://www.ebi.ac.uk/ena/data/view/AF314949 EMBL AF314949 http://www.ebi.ac.uk/ena/data/view/AF314949 EMBL AF314950 http://www.ebi.ac.uk/ena/data/view/AF314950 EMBL AF314950 http://www.ebi.ac.uk/ena/data/view/AF314950 EMBL AF314951 http://www.ebi.ac.uk/ena/data/view/AF314951 EMBL AF314951 http://www.ebi.ac.uk/ena/data/view/AF314951 EMBL AF314952 http://www.ebi.ac.uk/ena/data/view/AF314952 EMBL AF314952 http://www.ebi.ac.uk/ena/data/view/AF314952 EMBL AF314953 http://www.ebi.ac.uk/ena/data/view/AF314953 EMBL AF314953 http://www.ebi.ac.uk/ena/data/view/AF314953 EMBL AF314954 http://www.ebi.ac.uk/ena/data/view/AF314954 EMBL AF314954 http://www.ebi.ac.uk/ena/data/view/AF314954 EMBL AF314955 http://www.ebi.ac.uk/ena/data/view/AF314955 EMBL AF314955 http://www.ebi.ac.uk/ena/data/view/AF314955 EMBL AF314956 http://www.ebi.ac.uk/ena/data/view/AF314956 EMBL AF314956 http://www.ebi.ac.uk/ena/data/view/AF314956 EMBL AF477977 http://www.ebi.ac.uk/ena/data/view/AF477977 EMBL AF531258 http://www.ebi.ac.uk/ena/data/view/AF531258 EMBL AF531259 http://www.ebi.ac.uk/ena/data/view/AF531259 EMBL AF531260 http://www.ebi.ac.uk/ena/data/view/AF531260 EMBL AK315283 http://www.ebi.ac.uk/ena/data/view/AK315283 EMBL AL117500 http://www.ebi.ac.uk/ena/data/view/AL117500 EMBL BC126241 http://www.ebi.ac.uk/ena/data/view/BC126241 EMBL BC126243 http://www.ebi.ac.uk/ena/data/view/BC126243 EMBL CH471125 http://www.ebi.ac.uk/ena/data/view/CH471125 EMBL CH471125 http://www.ebi.ac.uk/ena/data/view/CH471125 EMBL CH471125 http://www.ebi.ac.uk/ena/data/view/CH471125 EMBL DQ138323 http://www.ebi.ac.uk/ena/data/view/DQ138323 Ensembl ENST00000290209 http://www.ensembl.org/id/ENST00000290209 Ensembl ENST00000354181 http://www.ensembl.org/id/ENST00000354181 Ensembl ENST00000397702 http://www.ensembl.org/id/ENST00000397702 Ensembl ENST00000397707 http://www.ensembl.org/id/ENST00000397707 Ensembl ENST00000458406 http://www.ensembl.org/id/ENST00000458406 Ensembl ENST00000558589 http://www.ensembl.org/id/ENST00000558589 Ensembl ENST00000558667 http://www.ensembl.org/id/ENST00000558667 Ensembl ENST00000560611 http://www.ensembl.org/id/ENST00000560611 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0016323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016323 GO_function GO:0015079 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015079 GO_function GO:0015379 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015379 GO_function GO:0019901 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019901 GO_function GO:0022820 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022820 GO_function GO:0035827 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035827 GO_process GO:0001525 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001525 GO_process GO:0006811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006811 GO_process GO:0007268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007268 GO_process GO:0010107 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010107 GO_process GO:0035826 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035826 GO_process GO:0071476 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071476 GO_process GO:0071477 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071477 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0048646 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048646 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC12A6 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC12A6 GeneID 9990 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=9990 GeneTree ENSGT00760000119053 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119053 HGNC HGNC:10914 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10914 HOGENOM HOG000092644 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000092644&db=HOGENOM6 HOVERGEN HBG052852 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052852&db=HOVERGEN HPA HPA034563 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA034563 InParanoid Q9UHW9 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9UHW9 IntAct Q9UHW9 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9UHW9* InterPro IPR000076 http://www.ebi.ac.uk/interpro/entry/IPR000076 InterPro IPR004841 http://www.ebi.ac.uk/interpro/entry/IPR004841 InterPro IPR004842 http://www.ebi.ac.uk/interpro/entry/IPR004842 InterPro IPR018491 http://www.ebi.ac.uk/interpro/entry/IPR018491 InterPro IPR030364 http://www.ebi.ac.uk/interpro/entry/IPR030364 Jabion 9990 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=9990 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Disease H00816 http://www.genome.jp/dbget-bin/www_bget?H00816 KEGG_Gene hsa:9990 http://www.genome.jp/dbget-bin/www_bget?hsa:9990 KEGG_Orthology KO:K14427 http://www.genome.jp/dbget-bin/www_bget?KO:K14427 MIM 218000 http://www.ncbi.nlm.nih.gov/omim/218000 MIM 604878 http://www.ncbi.nlm.nih.gov/omim/604878 OMA DRTSHPQ http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=DRTSHPQ Orphanet 1496 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1496 OrthoDB EOG091G0WB4 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0WB4 PANTHER PTHR11827:SF66 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11827:SF66 PRINTS PR01081 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01081 PSORT swissprot:S12A6_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S12A6_HUMAN PSORT-B swissprot:S12A6_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S12A6_HUMAN PSORT2 swissprot:S12A6_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S12A6_HUMAN Pfam PF00324 http://pfam.xfam.org/family/PF00324 Pfam PF03522 http://pfam.xfam.org/family/PF03522 PharmGKB PA35808 http://www.pharmgkb.org/do/serve?objId=PA35808&objCls=Gene Phobius swissprot:S12A6_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S12A6_HUMAN PhylomeDB Q9UHW9 http://phylomedb.org/?seqid=Q9UHW9 ProteinModelPortal Q9UHW9 http://www.proteinmodelportal.org/query/uniprot/Q9UHW9 PubMed 10187864 http://www.ncbi.nlm.nih.gov/pubmed/10187864 PubMed 10347194 http://www.ncbi.nlm.nih.gov/pubmed/10347194 PubMed 10600773 http://www.ncbi.nlm.nih.gov/pubmed/10600773 PubMed 11551954 http://www.ncbi.nlm.nih.gov/pubmed/11551954 PubMed 12368912 http://www.ncbi.nlm.nih.gov/pubmed/12368912 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16048901 http://www.ncbi.nlm.nih.gov/pubmed/16048901 PubMed 16572171 http://www.ncbi.nlm.nih.gov/pubmed/16572171 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 19690332 http://www.ncbi.nlm.nih.gov/pubmed/19690332 PubMed 21406692 http://www.ncbi.nlm.nih.gov/pubmed/21406692 PubMed 21613606 http://www.ncbi.nlm.nih.gov/pubmed/21613606 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 Reactome R-HSA-426117 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-426117 RefSeq NP_001035959 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001035959 RefSeq NP_001035960 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001035960 RefSeq NP_001035961 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001035961 RefSeq NP_001035962 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001035962 RefSeq NP_005126 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_005126 RefSeq NP_598408 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_598408 STRING 9606.ENSP00000452776 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000452776&targetmode=cogs TCDB 2.A.30.5 http://www.tcdb.org/search/result.php?tc=2.A.30.5 TIGRFAMs TIGR00930 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00930 UCSC uc001zhv http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001zhv&org=rat UniGene Hs.510939 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.510939 UniProtKB S12A6_HUMAN http://www.uniprot.org/uniprot/S12A6_HUMAN UniProtKB-AC Q9UHW9 http://www.uniprot.org/uniprot/Q9UHW9 charge swissprot:S12A6_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S12A6_HUMAN eggNOG COG0531 http://eggnogapi.embl.de/nog_data/html/tree/COG0531 eggNOG KOG2082 http://eggnogapi.embl.de/nog_data/html/tree/KOG2082 epestfind swissprot:S12A6_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S12A6_HUMAN garnier swissprot:S12A6_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S12A6_HUMAN helixturnhelix swissprot:S12A6_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S12A6_HUMAN hmoment swissprot:S12A6_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S12A6_HUMAN iep swissprot:S12A6_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S12A6_HUMAN inforesidue swissprot:S12A6_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S12A6_HUMAN neXtProt NX_Q9UHW9 http://www.nextprot.org/db/entry/NX_Q9UHW9 octanol swissprot:S12A6_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S12A6_HUMAN pepcoil swissprot:S12A6_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S12A6_HUMAN pepdigest swissprot:S12A6_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S12A6_HUMAN pepinfo swissprot:S12A6_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S12A6_HUMAN pepnet swissprot:S12A6_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S12A6_HUMAN pepstats swissprot:S12A6_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S12A6_HUMAN pepwheel swissprot:S12A6_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S12A6_HUMAN pepwindow swissprot:S12A6_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S12A6_HUMAN sigcleave swissprot:S12A6_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S12A6_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS M2OM_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q02978-1; Sequence=Displayed; Name=2; IsoId=Q02978-2; Sequence=VSP_046745; Note=Gene prediction based on EST data.; # AltName M2OM_HUMAN Solute carrier family 25 member 11 # BioGrid 113990 52 # CCDS CCDS11059 -. [Q02978-1] # CCDS CCDS54069 -. [Q02978-2] # ChiTaRS SLC25A11 human # Ensembl ENST00000225665 ENSP00000225665; ENSG00000108528. [Q02978-1] # Ensembl ENST00000544061 ENSP00000440804; ENSG00000108528. [Q02978-2] # ExpressionAtlas Q02978 baseline and differential # FUNCTION M2OM_HUMAN Catalyzes the transport of 2-oxoglutarate across the inner mitochondrial membrane in an electroneutral exchange for malate or other dicarboxylic acids, and plays an important role in several metabolic processes, including the malate-aspartate shuttle, the oxoglutarate/isocitrate shuttle, in gluconeogenesis from lactate, and in nitrogen metabolism. # GO_component GO:0005634 nucleus; IDA:UniProtKB. # GO_component GO:0005739 mitochondrion; IDA:UniProtKB. # GO_component GO:0005743 mitochondrial inner membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_function GO:0044822 poly(A) RNA binding; IDA:UniProtKB. # GO_function M2OM_HUMAN GO 0015367 oxoglutarate malate antiporter activity; TAS Reactome. # GO_process GO:0006006 glucose metabolic process; TAS:Reactome. # GO_process GO:0006094 gluconeogenesis; TAS:Reactome. # GO_process GO:0006810 transport; TAS:ProtInc. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005739 mitochondrion # GOslim_function GO:0003723 RNA binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0005975 carbohydrate metabolic process # GOslim_process GO:0006810 transport # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0044281 small molecule metabolic process # Gene3D 1.50.40.10 -; 1. # Genevisible Q02978 HS # HGNC HGNC:10981 SLC25A11 # IntAct Q02978 18 # InterPro IPR018108 Mitochondrial_sb/sol_carrier # InterPro IPR023395 Mt_carrier_dom # KEGG_Brite ko02001 Solute carrier family # MIM 604165 gene # Organism M2OM_HUMAN Homo sapiens (Human) # PIR A56650 A56650 # PROSITE PS50920 SOLCAR; 3 # Pfam PF00153 Mito_carr; 3 # Proteomes UP000005640 Chromosome 17 # Reactome R-HSA-70263 Gluconeogenesis # Reactome R-HSA-70326 Glucose metabolism # RecName M2OM_HUMAN Mitochondrial 2-oxoglutarate/malate carrier protein # RefSeq NP_003553 NM_003562.4. [Q02978-1] # SIMILARITY Belongs to the mitochondrial carrier (TC 2.A.29) family. {ECO 0000305}. # SIMILARITY Contains 3 Solcar repeats. {ECO:0000255|PROSITE- ProRule PRU00282}. # SUBCELLULAR LOCATION M2OM_HUMAN Mitochondrion inner membrane; Multi-pass membrane protein. # SUPFAM SSF103506 SSF103506 # TCDB 2.A.29.2.13 the mitochondrial carrier (mc) family # TopDownProteomics Q02978-1 -. [Q02978-1] # UCSC uc021toe human. [Q02978-1] # eggNOG ENOG410XQHU LUCA # eggNOG KOG0759 Eukaryota BLAST swissprot:M2OM_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:M2OM_HUMAN BioCyc ZFISH:ENSG00000108528-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000108528-MONOMER COXPRESdb 8402 http://coxpresdb.jp/data/gene/8402.shtml CleanEx HS_SLC25A11 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC25A11 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/ac9004309 http://dx.doi.org/10.1021/ac9004309 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature04689 http://dx.doi.org/10.1038/nature04689 DOI 10.1073/pnas.1210303109 http://dx.doi.org/10.1073/pnas.1210303109 DOI 10.1074/mcp.M111.015131 http://dx.doi.org/10.1074/mcp.M111.015131 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1175371 http://dx.doi.org/10.1126/science.1175371 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AC004771 http://www.ebi.ac.uk/ena/data/view/AC004771 EMBL AF070548 http://www.ebi.ac.uk/ena/data/view/AF070548 EMBL BC006508 http://www.ebi.ac.uk/ena/data/view/BC006508 EMBL BC006519 http://www.ebi.ac.uk/ena/data/view/BC006519 EMBL BC016294 http://www.ebi.ac.uk/ena/data/view/BC016294 EMBL BC017170 http://www.ebi.ac.uk/ena/data/view/BC017170 EMBL X66114 http://www.ebi.ac.uk/ena/data/view/X66114 Ensembl ENST00000225665 http://www.ensembl.org/id/ENST00000225665 Ensembl ENST00000544061 http://www.ensembl.org/id/ENST00000544061 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0015367 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015367 GO_function GO:0044822 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044822 GO_process GO:0006006 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006006 GO_process GO:0006094 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006094 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_function GO:0003723 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003723 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0005975 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005975 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 Gene3D 1.50.40.10 http://www.cathdb.info/version/latest/superfamily/1.50.40.10 GeneCards SLC25A11 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC25A11 GeneID 8402 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=8402 GeneTree ENSGT00760000119170 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119170 HGNC HGNC:10981 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10981 HOGENOM HOG000165139 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000165139&db=HOGENOM6 HOVERGEN HBG009528 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG009528&db=HOVERGEN HPA HPA021167 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA021167 InParanoid Q02978 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q02978 IntAct Q02978 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q02978* InterPro IPR018108 http://www.ebi.ac.uk/interpro/entry/IPR018108 InterPro IPR023395 http://www.ebi.ac.uk/interpro/entry/IPR023395 Jabion 8402 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=8402 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:8402 http://www.genome.jp/dbget-bin/www_bget?hsa:8402 KEGG_Orthology KO:K15104 http://www.genome.jp/dbget-bin/www_bget?KO:K15104 MIM 604165 http://www.ncbi.nlm.nih.gov/omim/604165 MINT MINT-1161051 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1161051 OMA SDNIFCH http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=SDNIFCH OrthoDB EOG091G0BQ7 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0BQ7 PROSITE PS50920 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50920 PSORT swissprot:M2OM_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:M2OM_HUMAN PSORT-B swissprot:M2OM_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:M2OM_HUMAN PSORT2 swissprot:M2OM_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:M2OM_HUMAN Pfam PF00153 http://pfam.xfam.org/family/PF00153 PharmGKB PA35857 http://www.pharmgkb.org/do/serve?objId=PA35857&objCls=Gene Phobius swissprot:M2OM_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:M2OM_HUMAN PhylomeDB Q02978 http://phylomedb.org/?seqid=Q02978 ProteinModelPortal Q02978 http://www.proteinmodelportal.org/query/uniprot/Q02978 PubMed 1457818 http://www.ncbi.nlm.nih.gov/pubmed/1457818 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16625196 http://www.ncbi.nlm.nih.gov/pubmed/16625196 PubMed 19413330 http://www.ncbi.nlm.nih.gov/pubmed/19413330 PubMed 19608861 http://www.ncbi.nlm.nih.gov/pubmed/19608861 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 22223895 http://www.ncbi.nlm.nih.gov/pubmed/22223895 PubMed 22814378 http://www.ncbi.nlm.nih.gov/pubmed/22814378 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 Reactome R-HSA-70263 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-70263 Reactome R-HSA-70326 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-70326 RefSeq NP_003553 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_003553 STRING 9606.ENSP00000225665 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000225665&targetmode=cogs SUPFAM SSF103506 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103506 TCDB 2.A.29.2.13 http://www.tcdb.org/search/result.php?tc=2.A.29.2.13 UCSC uc021toe http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc021toe&org=rat UniGene Hs.184877 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.184877 UniProtKB M2OM_HUMAN http://www.uniprot.org/uniprot/M2OM_HUMAN UniProtKB-AC Q02978 http://www.uniprot.org/uniprot/Q02978 charge swissprot:M2OM_HUMAN http://rest.g-language.org/emboss/charge/swissprot:M2OM_HUMAN eggNOG ENOG410XQHU http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XQHU eggNOG KOG0759 http://eggnogapi.embl.de/nog_data/html/tree/KOG0759 epestfind swissprot:M2OM_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:M2OM_HUMAN garnier swissprot:M2OM_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:M2OM_HUMAN helixturnhelix swissprot:M2OM_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:M2OM_HUMAN hmoment swissprot:M2OM_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:M2OM_HUMAN iep swissprot:M2OM_HUMAN http://rest.g-language.org/emboss/iep/swissprot:M2OM_HUMAN inforesidue swissprot:M2OM_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:M2OM_HUMAN neXtProt NX_Q02978 http://www.nextprot.org/db/entry/NX_Q02978 octanol swissprot:M2OM_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:M2OM_HUMAN pepcoil swissprot:M2OM_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:M2OM_HUMAN pepdigest swissprot:M2OM_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:M2OM_HUMAN pepinfo swissprot:M2OM_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:M2OM_HUMAN pepnet swissprot:M2OM_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:M2OM_HUMAN pepstats swissprot:M2OM_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:M2OM_HUMAN pepwheel swissprot:M2OM_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:M2OM_HUMAN pepwindow swissprot:M2OM_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:M2OM_HUMAN sigcleave swissprot:M2OM_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:M2OM_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS CA2D4_HUMAN Event=Alternative splicing; Named isoforms=6; Name=1; Synonyms=Alpha2delta-4a; IsoId=Q7Z3S7-1; Sequence=Displayed; Name=2; IsoId=Q7Z3S7-2; Sequence=VSP_028070; Note=No experimental confirmation available. May be due to an intron retention.; Name=4; Synonyms=Alpha2delta-4b; IsoId=Q7Z3S7-4; Sequence=VSP_028069; Name=5; Synonyms=Alpha2delta-4c; IsoId=Q7Z3S7-5; Sequence=VSP_028071; Name=6; Synonyms=Alpha2delta-4d; IsoId=Q7Z3S7-6; Sequence=VSP_028069, VSP_028071; Name=7; IsoId=Q7Z3S7-7; Sequence=VSP_044107, VSP_044108, VSP_044109, VSP_044110; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; # AltName CA2D4_HUMAN Voltage-gated calcium channel subunit alpha-2/delta-4 # AltName CA2D4_HUMAN Voltage-gated calcium channel subunit alpha-2/delta-4 # CCDS CCDS44785 -. [Q7Z3S7-1] # ChiTaRS CACNA2D4 human # DISEASE CA2D4_HUMAN Retinal cone dystrophy 4 (RCD4) [MIM 610478] Characterized by minimal symptoms except for slowly progressive reduction in visual acuity. {ECO 0000269|PubMed 17033974}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DOMAIN CA2D4_HUMAN The MIDAS-like motif in the VWFA domain binds divalent metal cations and is required to promote trafficking of the alpha- 1 (CACNA1) subunit to the plasma membrane by an integrin-like switch. {ECO 0000250}. # Ensembl ENST00000382722 ENSP00000372169; ENSG00000151062. [Q7Z3S7-1] # Ensembl ENST00000545595 ENSP00000442329; ENSG00000151062. [Q7Z3S7-7] # Ensembl ENST00000585708 ENSP00000467697; ENSG00000151062. [Q7Z3S7-6] # Ensembl ENST00000586184 ENSP00000465060; ENSG00000151062. [Q7Z3S7-5] # Ensembl ENST00000588077 ENSP00000468530; ENSG00000151062. [Q7Z3S7-4] # ExpressionAtlas Q7Z3S7 baseline and differential # FUNCTION CA2D4_HUMAN The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel. {ECO 0000269|PubMed 12181424}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005891 voltage-gated calcium channel complex; IDA:UniProtKB. # GO_function GO:0005245 voltage-gated calcium channel activity; IDA:UniProtKB. # GO_function GO:0005246 calcium channel regulator activity; IBA:GO_Central. # GO_function GO:0046872 metal ion binding; IEA:UniProtKB-KW. # GO_process GO:0050908 detection of light stimulus involved in visual perception; IMP:UniProtKB. # GO_process GO:0051924 regulation of calcium ion transport; IBA:GO_Central. # GO_process GO:0061337 cardiac conduction; TAS:Reactome. # GO_process GO:0070588 calcium ion transmembrane transport; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0008150 biological_process # GOslim_process GO:0055085 transmembrane transport # Gene3D 3.40.50.410 -; 1. # Genevisible Q7Z3S7 HS # HGNC HGNC:20202 CACNA2D4 # InterPro IPR002035 VWF_A # InterPro IPR013608 VWA_N # InterPro IPR013680 VDCC_a2/dsu # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00481 [Inherited metabolic disease; Nervous system disease; Eye disease] Retinal cone dystrophy (RCD) # KEGG_Pathway ko04010 MAPK signaling pathway # KEGG_Pathway ko04260 Cardiac muscle contraction # KEGG_Pathway ko05410 Hypertrophic cardiomyopathy (HCM) # KEGG_Pathway ko05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC) # KEGG_Pathway ko05414 Dilated cardiomyopathy # MIM 608171 gene # MIM 610478 phenotype # MISCELLANEOUS CA2D4_HUMAN In contrast to CACNA2D1 and CACNA2D2, it does not bind gabapentin, an antiepileptic drug. # Organism CA2D4_HUMAN Homo sapiens (Human) # Orphanet 1872 Cone rod dystrophy # Orphanet 215 Congenital stationary night blindness # PROSITE PS50234 VWFA # PTM CA2D4_HUMAN May be proteolytically processed into subunits alpha-2-4 and delta-4 that are disulfide-linked. It is however unclear whether such cleavage really takes place in vivo and has a functional role (By similarity). {ECO 0000250}. # Pfam PF08399 VWA_N # Pfam PF08473 VGCC_alpha2 # Pfam PF13768 VWA_3 # Proteomes UP000005640 Chromosome 12 # Reactome R-HSA-5576892 Phase 0 - rapid depolarisation # Reactome R-HSA-5576893 Phase 2 - plateau phase # Reactome R-HSA-5576894 Phase 1 - inactivation of fast Na+ channels # RecName CA2D4_HUMAN Voltage-dependent calcium channel subunit alpha-2-4 # RecName CA2D4_HUMAN Voltage-dependent calcium channel subunit alpha-2-4 # RecName CA2D4_HUMAN Voltage-dependent calcium channel subunit alpha-2/delta-4 # RecName CA2D4_HUMAN Voltage-dependent calcium channel subunit delta-4 # RefSeq NP_758952 NM_172364.4. [Q7Z3S7-1] # SEQUENCE CAUTION Sequence=AAH48288.1; Type=Erroneous translation; Note=Wrong choice of frame.; Evidence={ECO:0000305}; Sequence=AAN06672.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the calcium channel subunit alpha-2/delta family. {ECO 0000305}. # SIMILARITY Contains 1 VWFA domain. {ECO:0000255|PROSITE- ProRule PRU00219}. # SIMILARITY Contains 1 cache domain. {ECO 0000305}. # SMART SM00327 VWA # SUBCELLULAR LOCATION CA2D4_HUMAN Membrane {ECO 0000305}; Single-pass type I membrane protein {ECO 0000305}. # SUBUNIT CA2D4_HUMAN Dimer formed of alpha-2-2 and delta-2 chains; disulfide- linked. Voltage-dependent calcium channels are multisubunit complexes, consisting of alpha-1 (CACNA1), alpha-2 (CACNA2D), beta (CACNB) and delta (CACNA2D) subunits in a 1 1 1 1 ratio (Probable). Interacts with CACNA1C and CACNB3. {ECO 0000269|PubMed 12181424, ECO 0000305}. # SUPFAM SSF53300 SSF53300 # TCDB 8.A.18.4 the ca(2+) channel auxiliary subunit Alpha2Delta types 1-4 (cca-Alpha2Delta) family # TISSUE SPECIFICITY Predominantly expressed in certain types of endocrine cells. Present in the Paneth cells of the small intestine. Also present in the erythroblasts in the fetal liver, in the cells of the zona reticularis of the adrenal gland and in the basophils of the pituitary. Present at low level in some brain regions such as the cerebellum (at protein level). {ECO:0000269|PubMed 12181424}. # UCSC uc058jsm human. [Q7Z3S7-1] # eggNOG ENOG410XPDX LUCA # eggNOG KOG2353 Eukaryota BLAST swissprot:CA2D4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CA2D4_HUMAN COXPRESdb 93589 http://coxpresdb.jp/data/gene/93589.shtml CleanEx HS_CACNA2D4 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CACNA2D4 DOI 10.1038/nature04569 http://dx.doi.org/10.1038/nature04569 DOI 10.1086/508944 http://dx.doi.org/10.1086/508944 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1124/mol.62.3.485 http://dx.doi.org/10.1124/mol.62.3.485 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 EMBL AC005342 http://www.ebi.ac.uk/ena/data/view/AC005342 EMBL AC005343 http://www.ebi.ac.uk/ena/data/view/AC005343 EMBL AF516695 http://www.ebi.ac.uk/ena/data/view/AF516695 EMBL BC048288 http://www.ebi.ac.uk/ena/data/view/BC048288 EMBL BX537436 http://www.ebi.ac.uk/ena/data/view/BX537436 EMBL BX537437 http://www.ebi.ac.uk/ena/data/view/BX537437 Ensembl ENST00000382722 http://www.ensembl.org/id/ENST00000382722 Ensembl ENST00000545595 http://www.ensembl.org/id/ENST00000545595 Ensembl ENST00000585708 http://www.ensembl.org/id/ENST00000585708 Ensembl ENST00000586184 http://www.ensembl.org/id/ENST00000586184 Ensembl ENST00000588077 http://www.ensembl.org/id/ENST00000588077 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005891 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005891 GO_function GO:0005245 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005245 GO_function GO:0005246 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005246 GO_function GO:0046872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046872 GO_process GO:0050908 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050908 GO_process GO:0051924 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051924 GO_process GO:0061337 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061337 GO_process GO:0070588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070588 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 3.40.50.410 http://www.cathdb.info/version/latest/superfamily/3.40.50.410 GeneCards CACNA2D4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CACNA2D4 GeneID 93589 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=93589 GeneTree ENSGT00530000062904 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000062904 H-InvDB HIX0010321 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0010321 H-InvDB HIX0171624 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0171624 HGNC HGNC:20202 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:20202 HOGENOM HOG000010247 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000010247&db=HOGENOM6 HOVERGEN HBG107124 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG107124&db=HOVERGEN HPA HPA031952 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA031952 InParanoid Q7Z3S7 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q7Z3S7 InterPro IPR002035 http://www.ebi.ac.uk/interpro/entry/IPR002035 InterPro IPR013608 http://www.ebi.ac.uk/interpro/entry/IPR013608 InterPro IPR013680 http://www.ebi.ac.uk/interpro/entry/IPR013680 Jabion 93589 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=93589 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00481 http://www.genome.jp/dbget-bin/www_bget?H00481 KEGG_Gene hsa:93589 http://www.genome.jp/dbget-bin/www_bget?hsa:93589 KEGG_Orthology KO:K04861 http://www.genome.jp/dbget-bin/www_bget?KO:K04861 KEGG_Pathway ko04010 http://www.genome.jp/kegg-bin/show_pathway?ko04010 KEGG_Pathway ko04260 http://www.genome.jp/kegg-bin/show_pathway?ko04260 KEGG_Pathway ko05410 http://www.genome.jp/kegg-bin/show_pathway?ko05410 KEGG_Pathway ko05412 http://www.genome.jp/kegg-bin/show_pathway?ko05412 KEGG_Pathway ko05414 http://www.genome.jp/kegg-bin/show_pathway?ko05414 MIM 608171 http://www.ncbi.nlm.nih.gov/omim/608171 MIM 610478 http://www.ncbi.nlm.nih.gov/omim/610478 OMA VFNLRWA http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=VFNLRWA Orphanet 1872 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1872 Orphanet 215 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=215 OrthoDB EOG091G00UY http://cegg.unige.ch/orthodb/results?searchtext=EOG091G00UY PROSITE PS50234 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50234 PSORT swissprot:CA2D4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CA2D4_HUMAN PSORT-B swissprot:CA2D4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CA2D4_HUMAN PSORT2 swissprot:CA2D4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CA2D4_HUMAN Pfam PF08399 http://pfam.xfam.org/family/PF08399 Pfam PF08473 http://pfam.xfam.org/family/PF08473 Pfam PF13768 http://pfam.xfam.org/family/PF13768 PharmGKB PA130546913 http://www.pharmgkb.org/do/serve?objId=PA130546913&objCls=Gene Phobius swissprot:CA2D4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CA2D4_HUMAN PhylomeDB Q7Z3S7 http://phylomedb.org/?seqid=Q7Z3S7 ProteinModelPortal Q7Z3S7 http://www.proteinmodelportal.org/query/uniprot/Q7Z3S7 PubMed 12181424 http://www.ncbi.nlm.nih.gov/pubmed/12181424 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16541075 http://www.ncbi.nlm.nih.gov/pubmed/16541075 PubMed 17033974 http://www.ncbi.nlm.nih.gov/pubmed/17033974 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 Reactome R-HSA-5576892 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576892 Reactome R-HSA-5576893 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576893 Reactome R-HSA-5576894 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576894 RefSeq NP_758952 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_758952 SMART SM00327 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00327 STRING 9606.ENSP00000372169 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000372169&targetmode=cogs SUPFAM SSF53300 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF53300 TCDB 8.A.18.4 http://www.tcdb.org/search/result.php?tc=8.A.18.4 UCSC uc058jsm http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc058jsm&org=rat UniGene Hs.13768 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.13768 UniProtKB CA2D4_HUMAN http://www.uniprot.org/uniprot/CA2D4_HUMAN UniProtKB-AC Q7Z3S7 http://www.uniprot.org/uniprot/Q7Z3S7 charge swissprot:CA2D4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CA2D4_HUMAN eggNOG ENOG410XPDX http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XPDX eggNOG KOG2353 http://eggnogapi.embl.de/nog_data/html/tree/KOG2353 epestfind swissprot:CA2D4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CA2D4_HUMAN garnier swissprot:CA2D4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CA2D4_HUMAN helixturnhelix swissprot:CA2D4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CA2D4_HUMAN hmoment swissprot:CA2D4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CA2D4_HUMAN iep swissprot:CA2D4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CA2D4_HUMAN inforesidue swissprot:CA2D4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CA2D4_HUMAN neXtProt NX_Q7Z3S7 http://www.nextprot.org/db/entry/NX_Q7Z3S7 octanol swissprot:CA2D4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CA2D4_HUMAN pepcoil swissprot:CA2D4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CA2D4_HUMAN pepdigest swissprot:CA2D4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CA2D4_HUMAN pepinfo swissprot:CA2D4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CA2D4_HUMAN pepnet swissprot:CA2D4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CA2D4_HUMAN pepstats swissprot:CA2D4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CA2D4_HUMAN pepwheel swissprot:CA2D4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CA2D4_HUMAN pepwindow swissprot:CA2D4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CA2D4_HUMAN sigcleave swissprot:CA2D4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CA2D4_HUMAN ## Database ID URL or Descriptions # AltName S6A17_HUMAN Sodium-dependent neurotransmitter transporter NTT4 # AltName S6A17_HUMAN Solute carrier family 6 member 17 # DISEASE S6A17_HUMAN Mental retardation, autosomal recessive 48 (MRT48) [MIM 616269] A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT48 patients show moderate to severe intellectual disability and additional features including progressive tremor, speech impairment, and sometimes behavioral problems. {ECO 0000269|PubMed 25704603}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000331565 ENSP00000330199; ENSG00000197106 # FUNCTION S6A17_HUMAN Functions as a sodium-dependent vesicular transporter selective for proline, glycine, leucine and alanine. In contrast to other members of this neurotransmitter transporter family, does not appear to be chloride-dependent (By similarity). {ECO 0000250|UniProtKB P31662}. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0008021 synaptic vesicle; ISS:UniProtKB. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0030672 synaptic vesicle membrane; IEA:UniProtKB-SubCell. # GO_function GO:0015171 amino acid transmembrane transporter activity; IBA:GO_Central. # GO_function S6A17_HUMAN GO 0005328 neurotransmitter sodium symporter activity; IEA InterPro. # GO_process GO:0007420 brain development; ISS:UniProtKB. # GO_process GO:0015804 neutral amino acid transport; ISS:UniProtKB. # GO_process GO:0015816 glycine transport; ISS:UniProtKB. # GO_process GO:0015820 leucine transport; ISS:UniProtKB. # GO_process GO:0015824 proline transport; ISS:UniProtKB. # GO_process GO:0032328 alanine transport; ISS:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0031410 cytoplasmic vesicle # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0048856 anatomical structure development # Genevisible Q9H1V8 HS # HGNC HGNC:31399 SLC6A17 # InterPro IPR000175 Na/ntran_symport # InterPro IPR002438 Na/ntran_symport_orphan # KEGG_Brite ko02001 Solute carrier family # KEGG_Brite ko04040 Ion channels # MIM 610299 gene # MIM 616269 phenotype # Organism S6A17_HUMAN Homo sapiens (Human) # PANTHER PTHR11616 PTHR11616; 2 # PRINTS PR00176 NANEUSMPORT # PRINTS PR01206 ORPHTRNSPORT # PROSITE PS00610 NA_NEUROTRAN_SYMP_1 # PROSITE PS00754 NA_NEUROTRAN_SYMP_2 # PROSITE PS50267 NA_NEUROTRAN_SYMP_3 # Pfam PF00209 SNF # Proteomes UP000005640 Chromosome 1 # RecName S6A17_HUMAN Sodium-dependent neutral amino acid transporter SLC6A17 # RefSeq NP_001010898 NM_001010898.2 # RefSeq XP_006710706 XM_006710643.2 # SIMILARITY Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A17 subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION S6A17_HUMAN Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO 0000250|UniProtKB P31662}; Multi- pass membrane protein {ECO 0000250|UniProtKB P31662}. Note=Localizes at synaptic junctions - at both pre- and post- synaptic sites - particularly in excitatory glutamatergic terminals. {ECO 0000250|UniProtKB Q8BJI1}. # TCDB 2.A.22.6:the neurotransmitter sodium symporter (nss) family # UCSC uc009wfq human # eggNOG COG0733 LUCA # eggNOG KOG3659 Eukaryota BLAST swissprot:S6A17_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S6A17_HUMAN BioCyc ZFISH:G66-31483-MONOMER http://biocyc.org/getid?id=ZFISH:G66-31483-MONOMER COXPRESdb 388662 http://coxpresdb.jp/data/gene/388662.shtml CleanEx HS_SLC6A17 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC6A17 DOI 10.1016/j.ajhg.2015.01.010 http://dx.doi.org/10.1016/j.ajhg.2015.01.010 DOI 10.1016/j.bbrc.2005.08.048 http://dx.doi.org/10.1016/j.bbrc.2005.08.048 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AK289982 http://www.ebi.ac.uk/ena/data/view/AK289982 EMBL AL137790 http://www.ebi.ac.uk/ena/data/view/AL137790 EMBL AL137790 http://www.ebi.ac.uk/ena/data/view/AL137790 EMBL AL355990 http://www.ebi.ac.uk/ena/data/view/AL355990 EMBL AL355990 http://www.ebi.ac.uk/ena/data/view/AL355990 EMBL BC140908 http://www.ebi.ac.uk/ena/data/view/BC140908 Ensembl ENST00000331565 http://www.ensembl.org/id/ENST00000331565 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0008021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008021 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0030672 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030672 GO_function GO:0005328 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005328 GO_function GO:0015171 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015171 GO_process GO:0007420 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007420 GO_process GO:0015804 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015804 GO_process GO:0015816 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015816 GO_process GO:0015820 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015820 GO_process GO:0015824 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015824 GO_process GO:0032328 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032328 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0031410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GeneCards SLC6A17 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC6A17 GeneID 388662 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=388662 GeneTree ENSGT00760000119044 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119044 HGNC HGNC:31399 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:31399 HOGENOM HOG000116406 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000116406&db=HOGENOM6 HOVERGEN HBG071421 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG071421&db=HOVERGEN HPA HPA007663 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA007663 HPA HPA008044 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA008044 InParanoid Q9H1V8 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9H1V8 InterPro IPR000175 http://www.ebi.ac.uk/interpro/entry/IPR000175 InterPro IPR002438 http://www.ebi.ac.uk/interpro/entry/IPR002438 Jabion 388662 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=388662 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:388662 http://www.genome.jp/dbget-bin/www_bget?hsa:388662 KEGG_Orthology KO:K05048 http://www.genome.jp/dbget-bin/www_bget?KO:K05048 MIM 610299 http://www.ncbi.nlm.nih.gov/omim/610299 MIM 616269 http://www.ncbi.nlm.nih.gov/omim/616269 OMA MEMYNVI http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=MEMYNVI OrthoDB EOG091G08PX http://cegg.unige.ch/orthodb/results?searchtext=EOG091G08PX PANTHER PTHR11616 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11616 PRINTS PR00176 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00176 PRINTS PR01206 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01206 PROSITE PS00610 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00610 PROSITE PS00754 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00754 PROSITE PS50267 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50267 PSORT swissprot:S6A17_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S6A17_HUMAN PSORT-B swissprot:S6A17_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S6A17_HUMAN PSORT2 swissprot:S6A17_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S6A17_HUMAN Pfam PF00209 http://pfam.xfam.org/family/PF00209 PharmGKB PA134941636 http://www.pharmgkb.org/do/serve?objId=PA134941636&objCls=Gene Phobius swissprot:S6A17_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S6A17_HUMAN PhylomeDB Q9H1V8 http://phylomedb.org/?seqid=Q9H1V8 ProteinModelPortal Q9H1V8 http://www.proteinmodelportal.org/query/uniprot/Q9H1V8 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16125675 http://www.ncbi.nlm.nih.gov/pubmed/16125675 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 25704603 http://www.ncbi.nlm.nih.gov/pubmed/25704603 RefSeq NP_001010898 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001010898 RefSeq XP_006710706 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006710706 STRING 9606.ENSP00000330199 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000330199&targetmode=cogs TCDB 2.A.22.6 http://www.tcdb.org/search/result.php?tc=2.A.22.6 UCSC uc009wfq http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc009wfq&org=rat UniGene Hs.128382 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.128382 UniProtKB S6A17_HUMAN http://www.uniprot.org/uniprot/S6A17_HUMAN UniProtKB-AC Q9H1V8 http://www.uniprot.org/uniprot/Q9H1V8 charge swissprot:S6A17_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S6A17_HUMAN eggNOG COG0733 http://eggnogapi.embl.de/nog_data/html/tree/COG0733 eggNOG KOG3659 http://eggnogapi.embl.de/nog_data/html/tree/KOG3659 epestfind swissprot:S6A17_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S6A17_HUMAN garnier swissprot:S6A17_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S6A17_HUMAN helixturnhelix swissprot:S6A17_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S6A17_HUMAN hmoment swissprot:S6A17_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S6A17_HUMAN iep swissprot:S6A17_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S6A17_HUMAN inforesidue swissprot:S6A17_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S6A17_HUMAN neXtProt NX_Q9H1V8 http://www.nextprot.org/db/entry/NX_Q9H1V8 octanol swissprot:S6A17_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S6A17_HUMAN pepcoil swissprot:S6A17_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S6A17_HUMAN pepdigest swissprot:S6A17_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S6A17_HUMAN pepinfo swissprot:S6A17_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S6A17_HUMAN pepnet swissprot:S6A17_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S6A17_HUMAN pepstats swissprot:S6A17_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S6A17_HUMAN pepwheel swissprot:S6A17_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S6A17_HUMAN pepwindow swissprot:S6A17_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S6A17_HUMAN sigcleave swissprot:S6A17_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S6A17_HUMAN ## Database ID URL or Descriptions # AltName CXCL7_HUMAN C-X-C motif chemokine 7 # AltName CXCL7_HUMAN LA-PF4 # AltName CXCL7_HUMAN Leukocyte-derived growth factor # AltName CXCL7_HUMAN Low-affinity platelet factor IV # AltName CXCL7_HUMAN Low-affinity platelet factor IV # AltName CXCL7_HUMAN Macrophage-derived growth factor # AltName CXCL7_HUMAN Small-inducible cytokine B7 # AltName CXCL7_HUMAN Small-inducible cytokine B7 # BioGrid 111469 15 # CDD cd00273 Chemokine_CXC # Ensembl ENST00000296028 ENSP00000296028; ENSG00000163736 # FUNCTION CXCL7_HUMAN LA-PF4 stimulates DNA synthesis, mitosis, glycolysis, intracellular cAMP accumulation, prostaglandin E2 secretion, and synthesis of hyaluronic acid and sulfated glycosaminoglycan. It also stimulates the formation and secretion of plasminogen activator by human synovial cells. NAP-2 is a ligand for CXCR1 and CXCR2, and NAP-2, NAP-2(73), NAP-2(74), NAP-2(1-66), and most potent NAP-2(1-63) are chemoattractants and activators for neutrophils. TC-1 and TC-2 are antibacterial proteins, in vitro released from activated platelet alpha-granules. CTAP-III(1-81) is more potent than CTAP-III desensitize chemokine-induced neutrophil activation. {ECO 0000269|PubMed 10877842, ECO 0000269|PubMed 7890771, ECO 0000269|PubMed 8950790, ECO 0000269|PubMed 9794434}. # GO_component GO:0005576 extracellular region; TAS:Reactome. # GO_component GO:0005615 extracellular space; IBA:GO_Central. # GO_component GO:0031093 platelet alpha granule lumen; TAS:Reactome. # GO_function GO:0005355 glucose transmembrane transporter activity; TAS:ProtInc. # GO_function GO:0008009 chemokine activity; IBA:GO_Central. # GO_function GO:0045236 CXCR chemokine receptor binding; IBA:GO_Central. # GO_process GO:0002523 leukocyte migration involved in inflammatory response; IEA:Ensembl. # GO_process GO:0002576 platelet degranulation; TAS:Reactome. # GO_process GO:0002690 positive regulation of leukocyte chemotaxis; IBA:GO_Central. # GO_process GO:0006954 inflammatory response; IBA:GO_Central. # GO_process GO:0006955 immune response; IBA:GO_Central. # GO_process GO:0007186 G-protein coupled receptor signaling pathway; IBA:GO_Central. # GO_process GO:0015758 glucose transport; TAS:ProtInc. # GO_process GO:0030593 neutrophil chemotaxis; IEA:InterPro. # GO_process GO:0032496 response to lipopolysaccharide; IBA:GO_Central. # GO_process GO:0042127 regulation of cell proliferation; IBA:GO_Central. # GO_process GO:0042742 defense response to bacterium; IEA:UniProtKB-KW. # GO_process GO:0043312 neutrophil degranulation; IEA:InterPro. # GO_process GO:0051781 positive regulation of cell division; IEA:UniProtKB-KW. # GO_process GO:0070098 chemokine-mediated signaling pathway; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005576 extracellular region # GOslim_component GO:0005615 extracellular space # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0002376 immune system process # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0016192 vesicle-mediated transport # GOslim_process GO:0048870 cell motility # Genevisible P02775 HS # HGNC HGNC:9240 PPBP # IntAct P02775 20 # InterPro IPR001089 Chemokine_CXC # InterPro IPR001811 Chemokine_IL8-like_dom # InterPro IPR018048 Chemokine_CXC_CS # InterPro IPR027223 PPBP # InterPro IPR033899 CXC_Chemokine_domain # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04052 Cytokines # KEGG_Pathway ko04060 Cytokine-cytokine receptor interaction # KEGG_Pathway ko04062 Chemokine signaling pathway # MIM 121010 gene # Organism CXCL7_HUMAN Homo sapiens (Human) # PANTHER PTHR10179 PTHR10179 # PANTHER PTHR10179:SF52 PTHR10179:SF52 # PDB 1F9P X-ray; 1.93 A; A=44-128 # PDB 1NAP X-ray; 1.90 A; A/B/C/D=59-128 # PDB 1TVX X-ray; 1.75 A; A/B/C/D=54-128 # PIR A39546 TGHU # PRINTS PR00437 SMALLCYTKCXC # PROSITE PS00471 SMALL_CYTOKINES_CXC # PTM CXCL7_HUMAN NAP-2(1-66) is produced by proteolytical processing, probably after secretion by leukocytes other than neutrophils. {ECO 0000269|PubMed 9794434}. # PTM CXCL7_HUMAN NAP-2(73) and NAP-2(74) seem not be produced by proteolytical processing of secreted precursors but are released in an active form from platelets. {ECO 0000269|PubMed 9794434}. # PTM CXCL7_HUMAN Proteolytic removal of residues 1-13 produces the active peptide beta-thromboglobulin, which is released from platelets along with platelet factor 4 and platelet-derived growth factor. # PTM CXCL7_HUMAN Proteolytic removal of residues 1-9 produces the active peptide connective tissue-activating peptide III (CTAP-III) (low- affinity platelet factor IV (LA-PF4)). # Pfam PF00048 IL8 # Proteomes UP000005640 Chromosome 4 # Reactome R-HSA-114608 Platelet degranulation # Reactome R-HSA-380108 Chemokine receptors bind chemokines # Reactome R-HSA-418594 G alpha (i) signalling events # Reactome R-HSA-6798695 Neutrophil degranulation # RecName CXCL7_HUMAN Beta-thromboglobulin # RecName CXCL7_HUMAN Connective tissue-activating peptide III # RecName CXCL7_HUMAN Connective tissue-activating peptide III(1-81) # RecName CXCL7_HUMAN Neutrophil-activating peptide 2 # RecName CXCL7_HUMAN Neutrophil-activating peptide 2(1-63) # RecName CXCL7_HUMAN Neutrophil-activating peptide 2(1-66) # RecName CXCL7_HUMAN Neutrophil-activating peptide 2(73) # RecName CXCL7_HUMAN Neutrophil-activating peptide 2(74) # RecName CXCL7_HUMAN Platelet basic protein # RecName CXCL7_HUMAN TC-1 # RecName CXCL7_HUMAN TC-1 # RecName CXCL7_HUMAN TC-2 # RecName CXCL7_HUMAN TC-2 # RefSeq NP_002695 NM_002704.3 # SIMILARITY Belongs to the intercrine alpha (chemokine CxC) family. {ECO 0000305}. # SMART SM00199 SCY # SUBCELLULAR LOCATION CXCL7_HUMAN Secreted. # SUBUNIT CXCL7_HUMAN Beta-thromboglobulin is a homotetramer. # SUPFAM SSF54117 SSF54117 # UCSC uc003hhj human # WEB RESOURCE CXCL7_HUMAN Name=Wikipedia; Note=CXCL7 entry; URL="https //en.wikipedia.org/wiki/CXCL7"; # eggNOG ENOG410JG75 Eukaryota # eggNOG ENOG4111BTH LUCA BLAST swissprot:CXCL7_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CXCL7_HUMAN BioCyc ZFISH:ENSG00000163736-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000163736-MONOMER COXPRESdb 5473 http://coxpresdb.jp/data/gene/5473.shtml CleanEx HS_PPBP http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_PPBP DIP DIP-5913N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-5913N DOI 10.1016/0006-291X(89)92203-1 http://dx.doi.org/10.1016/0006-291X(89)92203-1 DOI 10.1016/0006-291X(89)92330-9 http://dx.doi.org/10.1016/0006-291X(89)92330-9 DOI 10.1016/0014-5793(94)00573-7 http://dx.doi.org/10.1016/0014-5793(94)00573-7 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/bi00226a021 http://dx.doi.org/10.1021/bi00226a021 DOI 10.1021/bi00356a023 http://dx.doi.org/10.1021/bi00356a023 DOI 10.1021/bi00602a024 http://dx.doi.org/10.1021/bi00602a024 DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1038/nbt810 http://dx.doi.org/10.1038/nbt810 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.80.3.765 http://dx.doi.org/10.1073/pnas.80.3.765 DOI 10.1074/jbc.270.11.6338 http://dx.doi.org/10.1074/jbc.270.11.6338 DOI 10.1074/jbc.270.13.7077 http://dx.doi.org/10.1074/jbc.270.13.7077 DOI 10.1074/jbc.275.27.20374 http://dx.doi.org/10.1074/jbc.275.27.20374 DOI 10.1084/jem.171.2.449 http://dx.doi.org/10.1084/jem.171.2.449 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1110/ps.04682504 http://dx.doi.org/10.1110/ps.04682504 DOI 10.1182/blood.V98.3.610 http://dx.doi.org/10.1182/blood.V98.3.610 EMBL AC097709 http://www.ebi.ac.uk/ena/data/view/AC097709 EMBL AF349466 http://www.ebi.ac.uk/ena/data/view/AF349466 EMBL AK312166 http://www.ebi.ac.uk/ena/data/view/AK312166 EMBL BC028217 http://www.ebi.ac.uk/ena/data/view/BC028217 EMBL CH471057 http://www.ebi.ac.uk/ena/data/view/CH471057 EMBL CR456805 http://www.ebi.ac.uk/ena/data/view/CR456805 EMBL M54995 http://www.ebi.ac.uk/ena/data/view/M54995 Ensembl ENST00000296028 http://www.ensembl.org/id/ENST00000296028 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005576 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005576 GO_component GO:0005615 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005615 GO_component GO:0031093 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031093 GO_function GO:0005355 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005355 GO_function GO:0008009 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008009 GO_function GO:0045236 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045236 GO_process GO:0002523 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002523 GO_process GO:0002576 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002576 GO_process GO:0002690 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002690 GO_process GO:0006954 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006954 GO_process GO:0006955 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006955 GO_process GO:0007186 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007186 GO_process GO:0015758 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015758 GO_process GO:0030593 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030593 GO_process GO:0032496 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032496 GO_process GO:0042127 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042127 GO_process GO:0042742 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042742 GO_process GO:0043312 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043312 GO_process GO:0051781 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051781 GO_process GO:0070098 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070098 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005576 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005576 GOslim_component GO:0005615 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005615 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0002376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002376 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0016192 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016192 GOslim_process GO:0048870 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048870 GeneCards PPBP http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=PPBP GeneID 5473 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=5473 GeneTree ENSGT00530000062901 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000062901 H-InvDB HIX0031528 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0031528 HGNC HGNC:9240 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:9240 HOGENOM HOG000220915 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000220915&db=HOGENOM6 HOVERGEN HBG107789 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG107789&db=HOVERGEN HPA CAB017624 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB017624 HPA HPA008354 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA008354 InParanoid P02775 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P02775 IntAct P02775 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P02775* InterPro IPR001089 http://www.ebi.ac.uk/interpro/entry/IPR001089 InterPro IPR001811 http://www.ebi.ac.uk/interpro/entry/IPR001811 InterPro IPR018048 http://www.ebi.ac.uk/interpro/entry/IPR018048 InterPro IPR027223 http://www.ebi.ac.uk/interpro/entry/IPR027223 InterPro IPR033899 http://www.ebi.ac.uk/interpro/entry/IPR033899 Jabion 5473 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=5473 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04052 http://www.genome.jp/dbget-bin/www_bget?ko04052 KEGG_Gene hsa:5473 http://www.genome.jp/dbget-bin/www_bget?hsa:5473 KEGG_Orthology KO:K10029 http://www.genome.jp/dbget-bin/www_bget?KO:K10029 KEGG_Pathway ko04060 http://www.genome.jp/kegg-bin/show_pathway?ko04060 KEGG_Pathway ko04062 http://www.genome.jp/kegg-bin/show_pathway?ko04062 MIM 121010 http://www.ncbi.nlm.nih.gov/omim/121010 MINT MINT-1393871 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1393871 OMA LYAELRC http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=LYAELRC OrthoDB EOG091G10E9 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G10E9 PANTHER PTHR10179 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10179 PANTHER PTHR10179:SF52 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10179:SF52 PDB 1F9P http://www.ebi.ac.uk/pdbe-srv/view/entry/1F9P PDB 1NAP http://www.ebi.ac.uk/pdbe-srv/view/entry/1NAP PDB 1TVX http://www.ebi.ac.uk/pdbe-srv/view/entry/1TVX PDBsum 1F9P http://www.ebi.ac.uk/pdbsum/1F9P PDBsum 1NAP http://www.ebi.ac.uk/pdbsum/1NAP PDBsum 1TVX http://www.ebi.ac.uk/pdbsum/1TVX PRINTS PR00437 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00437 PROSITE PS00471 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00471 PSORT swissprot:CXCL7_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CXCL7_HUMAN PSORT-B swissprot:CXCL7_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CXCL7_HUMAN PSORT2 swissprot:CXCL7_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CXCL7_HUMAN Pfam PF00048 http://pfam.xfam.org/family/PF00048 PharmGKB PA33561 http://www.pharmgkb.org/do/serve?objId=PA33561&objCls=Gene Phobius swissprot:CXCL7_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CXCL7_HUMAN PhylomeDB P02775 http://phylomedb.org/?seqid=P02775 ProteinModelPortal P02775 http://www.proteinmodelportal.org/query/uniprot/P02775 PubMed 10877842 http://www.ncbi.nlm.nih.gov/pubmed/10877842 PubMed 11468158 http://www.ncbi.nlm.nih.gov/pubmed/11468158 PubMed 12665801 http://www.ncbi.nlm.nih.gov/pubmed/12665801 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15340161 http://www.ncbi.nlm.nih.gov/pubmed/15340161 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 PubMed 1826003 http://www.ncbi.nlm.nih.gov/pubmed/1826003 PubMed 2007144 http://www.ncbi.nlm.nih.gov/pubmed/2007144 PubMed 2406364 http://www.ncbi.nlm.nih.gov/pubmed/2406364 PubMed 2423119 http://www.ncbi.nlm.nih.gov/pubmed/2423119 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 2522778 http://www.ncbi.nlm.nih.gov/pubmed/2522778 PubMed 2713489 http://www.ncbi.nlm.nih.gov/pubmed/2713489 PubMed 2783111 http://www.ncbi.nlm.nih.gov/pubmed/2783111 PubMed 6572368 http://www.ncbi.nlm.nih.gov/pubmed/6572368 PubMed 7706245 http://www.ncbi.nlm.nih.gov/pubmed/7706245 PubMed 77677 http://www.ncbi.nlm.nih.gov/pubmed/77677 PubMed 7890771 http://www.ncbi.nlm.nih.gov/pubmed/7890771 PubMed 8034022 http://www.ncbi.nlm.nih.gov/pubmed/8034022 PubMed 8950790 http://www.ncbi.nlm.nih.gov/pubmed/8950790 PubMed 9794434 http://www.ncbi.nlm.nih.gov/pubmed/9794434 Reactome R-HSA-114608 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-114608 Reactome R-HSA-380108 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-380108 Reactome R-HSA-418594 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-418594 Reactome R-HSA-6798695 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6798695 RefSeq NP_002695 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_002695 SMART SM00199 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00199 SMR P02775 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P02775 STRING 9606.ENSP00000296028 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000296028&targetmode=cogs SUPFAM SSF54117 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF54117 SWISS-2DPAGE P02775 http://world-2dpage.expasy.org/swiss-2dpage/protein/ac=P02775 UCSC uc003hhj http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003hhj&org=rat UniGene Hs.2164 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.2164 UniProtKB CXCL7_HUMAN http://www.uniprot.org/uniprot/CXCL7_HUMAN UniProtKB-AC P02775 http://www.uniprot.org/uniprot/P02775 charge swissprot:CXCL7_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CXCL7_HUMAN eggNOG ENOG410JG75 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410JG75 eggNOG ENOG4111BTH http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111BTH epestfind swissprot:CXCL7_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CXCL7_HUMAN garnier swissprot:CXCL7_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CXCL7_HUMAN helixturnhelix swissprot:CXCL7_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CXCL7_HUMAN hmoment swissprot:CXCL7_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CXCL7_HUMAN iep swissprot:CXCL7_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CXCL7_HUMAN inforesidue swissprot:CXCL7_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CXCL7_HUMAN neXtProt NX_P02775 http://www.nextprot.org/db/entry/NX_P02775 octanol swissprot:CXCL7_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CXCL7_HUMAN pepcoil swissprot:CXCL7_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CXCL7_HUMAN pepdigest swissprot:CXCL7_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CXCL7_HUMAN pepinfo swissprot:CXCL7_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CXCL7_HUMAN pepnet swissprot:CXCL7_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CXCL7_HUMAN pepstats swissprot:CXCL7_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CXCL7_HUMAN pepwheel swissprot:CXCL7_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CXCL7_HUMAN pepwindow swissprot:CXCL7_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CXCL7_HUMAN sigcleave swissprot:CXCL7_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CXCL7_HUMAN ## Database ID URL or Descriptions # BioGrid 120912 67 # DISEASE SCN3B_HUMAN Atrial fibrillation, familial, 16 (ATFB16) [MIM 613120] A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. {ECO 0000269|PubMed 20558140, ECO 0000269|PubMed 21051419}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE SCN3B_HUMAN Brugada syndrome 7 (BRGDA7) [MIM 613120] A tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset. {ECO 0000269|Ref.8}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DrugBank DB00313 Valproic Acid # DrugBank DB00909 Zonisamide # Ensembl ENST00000299333 ENSP00000299333; ENSG00000166257 # Ensembl ENST00000392770 ENSP00000376523; ENSG00000166257 # Ensembl ENST00000530277 ENSP00000432785; ENSG00000166257 # ExpressionAtlas Q9NY72 baseline and differential # FUNCTION SCN3B_HUMAN Modulates channel gating kinetics. Causes unique persistent sodium currents. Inactivates the sodium channel opening more slowly than the subunit beta-1. Its association with neurofascin may target the sodium channels to the nodes of Ranvier of developing axons and retain these channels at the nodes in mature myelinated axons (By similarity). {ECO 0000250}. # GO_component GO:0001518 voltage-gated sodium channel complex; IDA:BHF-UCL. # GO_component GO:0005886 plasma membrane; IDA:LIFEdb. # GO_component GO:0016021 integral component of membrane; NAS:UniProtKB. # GO_component GO:0030018 Z disc; ISS:BHF-UCL. # GO_function GO:0005248 voltage-gated sodium channel activity; NAS:UniProtKB. # GO_function GO:0017080 sodium channel regulator activity; IDA:BHF-UCL. # GO_function GO:0044325 ion channel binding; IPI:BHF-UCL. # GO_function GO:0086006 voltage-gated sodium channel activity involved in cardiac muscle cell action potential; IDA:BHF-UCL. # GO_process GO:0006814 sodium ion transport; NAS:UniProtKB. # GO_process GO:0007399 nervous system development; IEA:Ensembl. # GO_process GO:0010460 positive regulation of heart rate; ISS:BHF-UCL. # GO_process GO:0010765 positive regulation of sodium ion transport; IDA:BHF-UCL. # GO_process GO:0019233 sensory perception of pain; IEA:Ensembl. # GO_process GO:0035725 sodium ion transmembrane transport; IDA:BHF-UCL. # GO_process GO:0051899 membrane depolarization; IDA:BHF-UCL. # GO_process GO:0060048 cardiac muscle contraction; IMP:BHF-UCL. # GO_process GO:0060371 regulation of atrial cardiac muscle cell membrane depolarization; IMP:BHF-UCL. # GO_process GO:0060373 regulation of ventricular cardiac muscle cell membrane depolarization; IMP:BHF-UCL. # GO_process GO:0072659 protein localization to plasma membrane; IMP:BHF-UCL. # GO_process GO:0086002 cardiac muscle cell action potential involved in contraction; IMP:BHF-UCL. # GO_process GO:0086005 ventricular cardiac muscle cell action potential; IMP:BHF-UCL. # GO_process GO:0086010 membrane depolarization during action potential; IDA:BHF-UCL. # GO_process GO:0086012 membrane depolarization during cardiac muscle cell action potential; IMP:BHF-UCL. # GO_process GO:0086014 atrial cardiac muscle cell action potential; IMP:BHF-UCL. # GO_process GO:0086015 SA node cell action potential; ISS:BHF-UCL. # GO_process GO:0086091 regulation of heart rate by cardiac conduction; IMP:BHF-UCL. # GO_process GO:2000649 regulation of sodium ion transmembrane transporter activity; IMP:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007009 plasma membrane organization # GOslim_process GO:0008150 biological_process # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0050877 neurological system process # GOslim_process GO:0055085 transmembrane transport # Gene3D 2.60.40.10 -; 1. # Genevisible Q9NY72 HS # HGNC HGNC:20665 SCN3B # InterPro IPR003599 Ig_sub # InterPro IPR007110 Ig-like_dom # InterPro IPR013106 Ig_V-set # InterPro IPR013783 Ig-like_fold # InterPro IPR027096 Na_channel_b3 # InterPro IPR027098 Na_channel_b1/b3 # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00728 [Cardiovascular disease] Brugada syndrome (BRS) # MIM 608214 gene # MIM 613120 phenotype # Organism SCN3B_HUMAN Homo sapiens (Human) # Orphanet 130 Brugada syndrome # Orphanet 334 Familial atrial fibrillation # PANTHER PTHR10546 PTHR10546 # PANTHER PTHR10546:SF1 PTHR10546:SF1 # PDB 4L1D X-ray; 2.50 A; A/B/C=25-145 # PROSITE PS50835 IG_LIKE # Pfam PF07686 V-set # Proteomes UP000005640 Chromosome 11 # Reactome R-HSA-445095 Interaction between L1 and Ankyrins # Reactome R-HSA-5576892 Phase 0 - rapid depolarisation # RecName SCN3B_HUMAN Sodium channel subunit beta-3 # RefSeq NP_001035241 NM_001040151.1 # RefSeq NP_060870 NM_018400.3 # RefSeq XP_011541199 XM_011542897.1 # SEQUENCE CAUTION Sequence=BAA86472.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the sodium channel auxiliary subunit SCN3B (TC 8.A.17) family. {ECO 0000305}. # SIMILARITY Contains 1 Ig-like C2-type (immunoglobulin-like) domain. {ECO 0000305}. # SMART SM00409 IG # SUBCELLULAR LOCATION SCN3B_HUMAN Membrane; Single-pass type I membrane protein. # SUBUNIT The voltage-sensitive sodium channel consists of an ion conducting pore forming alpha-subunit regulated by one or more beta-1, beta-2, beta-3 and/or beta-4 subunits. Beta-1 and beta-3 are non-covalently associated with alpha, while beta-2 and beta-4 are covalently linked by disulfide bonds (By similarity). {ECO 0000250}. # SUPFAM SSF48726 SSF48726 # TISSUE SPECIFICITY Expressed in the atrium. {ECO:0000269|PubMed 21051419}. # UCSC uc001pza human # eggNOG ENOG410IHF3 Eukaryota # eggNOG ENOG4111IPM LUCA BLAST swissprot:SCN3B_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SCN3B_HUMAN COXPRESdb 55800 http://coxpresdb.jp/data/gene/55800.shtml CleanEx HS_SCN3B http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SCN3B DOI 10.1016/j.bbrc.2010.06.042 http://dx.doi.org/10.1016/j.bbrc.2010.06.042 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.030362197 http://dx.doi.org/10.1073/pnas.030362197 DOI 10.1093/cvr/cvp417 http://dx.doi.org/10.1093/cvr/cvp417 DOI 10.1093/cvr/cvq348 http://dx.doi.org/10.1093/cvr/cvq348 DOI 10.1093/dnares/6.5.329 http://dx.doi.org/10.1093/dnares/6.5.329 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1101/gr.GR1547R http://dx.doi.org/10.1101/gr.GR1547R DOI 10.1126/science.1133427 http://dx.doi.org/10.1126/science.1133427 DrugBank DB00313 http://www.drugbank.ca/drugs/DB00313 DrugBank DB00909 http://www.drugbank.ca/drugs/DB00909 EMBL AB032984 http://www.ebi.ac.uk/ena/data/view/AB032984 EMBL AJ243396 http://www.ebi.ac.uk/ena/data/view/AJ243396 EMBL AK314513 http://www.ebi.ac.uk/ena/data/view/AK314513 EMBL AL136589 http://www.ebi.ac.uk/ena/data/view/AL136589 EMBL BC117282 http://www.ebi.ac.uk/ena/data/view/BC117282 EMBL BC126265 http://www.ebi.ac.uk/ena/data/view/BC126265 EMBL DQ677666 http://www.ebi.ac.uk/ena/data/view/DQ677666 Ensembl ENST00000299333 http://www.ensembl.org/id/ENST00000299333 Ensembl ENST00000392770 http://www.ensembl.org/id/ENST00000392770 Ensembl ENST00000530277 http://www.ensembl.org/id/ENST00000530277 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0001518 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001518 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0030018 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030018 GO_function GO:0005248 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005248 GO_function GO:0017080 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0017080 GO_function GO:0044325 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044325 GO_function GO:0086006 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086006 GO_process GO:0006814 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006814 GO_process GO:0007399 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007399 GO_process GO:0010460 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010460 GO_process GO:0010765 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010765 GO_process GO:0019233 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019233 GO_process GO:0035725 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035725 GO_process GO:0051899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051899 GO_process GO:0060048 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060048 GO_process GO:0060371 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060371 GO_process GO:0060373 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060373 GO_process GO:0072659 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0072659 GO_process GO:0086002 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086002 GO_process GO:0086005 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086005 GO_process GO:0086010 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086010 GO_process GO:0086012 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086012 GO_process GO:0086014 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086014 GO_process GO:0086015 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086015 GO_process GO:0086091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086091 GO_process GO:2000649 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000649 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007009 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007009 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 2.60.40.10 http://www.cathdb.info/version/latest/superfamily/2.60.40.10 GeneCards SCN3B http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SCN3B GeneID 55800 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=55800 GeneTree ENSGT00390000018560 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000018560 HGNC HGNC:20665 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:20665 HOGENOM HOG000276881 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000276881&db=HOGENOM6 HOVERGEN HBG056582 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG056582&db=HOVERGEN HPA HPA042518 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA042518 InParanoid Q9NY72 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9NY72 InterPro IPR003599 http://www.ebi.ac.uk/interpro/entry/IPR003599 InterPro IPR007110 http://www.ebi.ac.uk/interpro/entry/IPR007110 InterPro IPR013106 http://www.ebi.ac.uk/interpro/entry/IPR013106 InterPro IPR013783 http://www.ebi.ac.uk/interpro/entry/IPR013783 InterPro IPR027096 http://www.ebi.ac.uk/interpro/entry/IPR027096 InterPro IPR027098 http://www.ebi.ac.uk/interpro/entry/IPR027098 Jabion 55800 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=55800 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00728 http://www.genome.jp/dbget-bin/www_bget?H00728 KEGG_Gene hsa:55800 http://www.genome.jp/dbget-bin/www_bget?hsa:55800 KEGG_Orthology KO:K04847 http://www.genome.jp/dbget-bin/www_bget?KO:K04847 MIM 608214 http://www.ncbi.nlm.nih.gov/omim/608214 MIM 613120 http://www.ncbi.nlm.nih.gov/omim/613120 MINT MINT-4724379 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-4724379 OMA LLIEMVY http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=LLIEMVY Orphanet 130 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=130 Orphanet 334 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=334 OrthoDB EOG091G0OF7 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0OF7 PANTHER PTHR10546 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10546 PANTHER PTHR10546:SF1 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10546:SF1 PDB 4L1D http://www.ebi.ac.uk/pdbe-srv/view/entry/4L1D PDBsum 4L1D http://www.ebi.ac.uk/pdbsum/4L1D PROSITE PS50835 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50835 PSORT swissprot:SCN3B_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SCN3B_HUMAN PSORT-B swissprot:SCN3B_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SCN3B_HUMAN PSORT2 swissprot:SCN3B_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SCN3B_HUMAN Pfam PF07686 http://pfam.xfam.org/family/PF07686 PharmGKB PA130546912 http://www.pharmgkb.org/do/serve?objId=PA130546912&objCls=Gene Phobius swissprot:SCN3B_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SCN3B_HUMAN PhylomeDB Q9NY72 http://phylomedb.org/?seqid=Q9NY72 ProteinModelPortal Q9NY72 http://www.proteinmodelportal.org/query/uniprot/Q9NY72 PubMed 10574461 http://www.ncbi.nlm.nih.gov/pubmed/10574461 PubMed 10688874 http://www.ncbi.nlm.nih.gov/pubmed/10688874 PubMed 11230166 http://www.ncbi.nlm.nih.gov/pubmed/11230166 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16959974 http://www.ncbi.nlm.nih.gov/pubmed/16959974 PubMed 20042427 http://www.ncbi.nlm.nih.gov/pubmed/20042427 PubMed 20558140 http://www.ncbi.nlm.nih.gov/pubmed/20558140 PubMed 21051419 http://www.ncbi.nlm.nih.gov/pubmed/21051419 Reactome R-HSA-445095 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-445095 Reactome R-HSA-5576892 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576892 RefSeq NP_001035241 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001035241 RefSeq NP_060870 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_060870 RefSeq XP_011541199 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011541199 SMART SM00409 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00409 SMR Q9NY72 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9NY72 STRING 9606.ENSP00000299333 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000299333&targetmode=cogs SUPFAM SSF48726 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48726 UCSC uc001pza http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001pza&org=rat UniGene Hs.4865 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.4865 UniProtKB SCN3B_HUMAN http://www.uniprot.org/uniprot/SCN3B_HUMAN UniProtKB-AC Q9NY72 http://www.uniprot.org/uniprot/Q9NY72 charge swissprot:SCN3B_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SCN3B_HUMAN eggNOG ENOG410IHF3 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IHF3 eggNOG ENOG4111IPM http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111IPM epestfind swissprot:SCN3B_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SCN3B_HUMAN garnier swissprot:SCN3B_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SCN3B_HUMAN helixturnhelix swissprot:SCN3B_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SCN3B_HUMAN hmoment swissprot:SCN3B_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SCN3B_HUMAN iep swissprot:SCN3B_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SCN3B_HUMAN inforesidue swissprot:SCN3B_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SCN3B_HUMAN neXtProt NX_Q9NY72 http://www.nextprot.org/db/entry/NX_Q9NY72 octanol swissprot:SCN3B_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SCN3B_HUMAN pepcoil swissprot:SCN3B_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SCN3B_HUMAN pepdigest swissprot:SCN3B_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SCN3B_HUMAN pepinfo swissprot:SCN3B_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SCN3B_HUMAN pepnet swissprot:SCN3B_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SCN3B_HUMAN pepstats swissprot:SCN3B_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SCN3B_HUMAN pepwheel swissprot:SCN3B_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SCN3B_HUMAN pepwindow swissprot:SCN3B_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SCN3B_HUMAN sigcleave swissprot:SCN3B_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SCN3B_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS Event=Alternative splicing; Named isoforms=37; Comment=Additional isoforms seem to exist. Exons 8A, 21, 22, 31, 32, 33, 40B, 43A, 41A and 45 are alternatively spliced in a variety of combinations. Experimental confirmation may be lacking for some isoforms.; Name=1; Synonyms=HFCC, Fibroblast; IsoId=Q13936-1; Sequence=Displayed; Name=2; IsoId=Q13936-2; Sequence=VSP_000894; Name=3; IsoId=Q13936-3; Sequence=VSP_000886; Note=Contains exon 8a.; Name=4; IsoId=Q13936-4; Sequence=VSP_000887; Note=Lacks exon 21.; Name=5; IsoId=Q13936-5; Sequence=VSP_000888; Note=Lacks exon 22.; Name=6; IsoId=Q13936-6; Sequence=VSP_000889; Note=Lacks exon 31.; Name=7; IsoId=Q13936-7; Sequence=VSP_000890; Note=Lacks exon 32.; Name=8; IsoId=Q13936-8; Sequence=VSP_000891; Note=Lacks exon 33.; Name=9; IsoId=Q13936-9; Sequence=VSP_000892; Note=Contains exon 40B and 43A.; Name=10; IsoId=Q13936-10; Sequence=VSP_000893; Note=Contains exon 41A.; Name=11; Synonyms=Alpha-1C.90; IsoId=Q13936-11; Sequence=VSP_000895; Note=Lacks exon 45.; Name=12; Synonyms=Alpha-1C.70; IsoId=Q13936-12; Sequence=VSP_000888, VSP_000889, VSP_000895; Name=13; Synonyms=Alpha-1C.127; IsoId=Q13936-13; Sequence=VSP_000888, VSP_000890, VSP_000893, VSP_000895; Name=14; Synonyms=Alpha-1C.126; IsoId=Q13936-14; Sequence=VSP_000888, VSP_000889, VSP_022504, VSP_000893, VSP_000895; Name=15; Synonyms=Alpha-1C.125; IsoId=Q13936-15; Sequence=VSP_000888, VSP_000889, VSP_022503, VSP_000893, VSP_000895; Name=16; IsoId=Q13936-16; Sequence=VSP_000885, VSP_000886, VSP_000888, VSP_000890; Name=17; IsoId=Q13936-17; Sequence=VSP_000885, VSP_000886, VSP_000888, VSP_000890, VSP_000895; Name=18; Synonyms=HHT-1; IsoId=Q13936-18; Sequence=VSP_000885, VSP_000886, VSP_000888, VSP_000890, VSP_000894; Name=19; Synonyms=Alpha-1C.76; IsoId=Q13936-19; Sequence=VSP_000887, VSP_000889, VSP_000891, VSP_000895; Name=20; Synonyms=Alpha-1C.77; IsoId=Q13936-20; Sequence=VSP_000887, VSP_000889, VSP_000895; Note=Predominant isoform in atherosclerotic vascular smooth muscle cells.; Name=21; Synonyms=Alpha-1C.69; IsoId=Q13936-21; Sequence=VSP_000887, VSP_000890, VSP_000895; Name=22; Synonyms=Alpha-1C.78; IsoId=Q13936-22; Sequence=VSP_000888, VSP_000890, VSP_000895; Name=23; Synonyms=Alpha-1C.105; IsoId=Q13936-23; Sequence=VSP_000886, VSP_000887, VSP_000889, VSP_000895; Name=24; Synonyms=Alpha-1C.71; IsoId=Q13936-24; Sequence=VSP_000888, VSP_000889, VSP_000893, VSP_000895; Name=25; Synonyms=Alpha-1C.73; IsoId=Q13936-25; Sequence=VSP_000888, VSP_000889, VSP_000891, VSP_000893, VSP_000895; Name=26; Synonyms=Alpha-1C.86; IsoId=Q13936-26; Sequence=VSP_000887, VSP_000889, VSP_000892, VSP_000895; Note=Not inhibited by calcium. Ref.3 (CAA84348) sequence is in conflict in position: 1573 A->T. {ECO:0000305}; Name=27; Synonyms=Alpha-1C.72; IsoId=Q13936-27; Sequence=VSP_000887, VSP_000889, VSP_000893, VSP_000895; Name=28; IsoId=Q13936-28; Sequence=VSP_000885, VSP_000886, VSP_000888, VSP_000889, VSP_000891, VSP_000894; Name=29; Synonyms=Alpha-1C.74; IsoId=Q13936-29; Sequence=VSP_000887, VSP_000889, VSP_000891, VSP_000893, VSP_000895; Name=30; Synonyms=Alpha-1C.87; IsoId=Q13936-30; Sequence=VSP_000889, VSP_000895; Name=31; Synonyms=Alpha-1C.88; IsoId=Q13936-31; Sequence=VSP_000888, VSP_000895; Name=32; Synonyms=Alpha-1C.89; IsoId=Q13936-32; Sequence=VSP_000887, VSP_000891, VSP_000895; Name=33; Synonyms=Alpha-1C.85; IsoId=Q13936-33; Sequence=VSP_000887, VSP_000889; Name=34; Synonyms=Alpha-1C,long-NT; IsoId=Q13936-34; Sequence=VSP_035146; Note=Enhanced by PKC activator.; Name=35; IsoId=Q13936-35; Sequence=VSP_035877, VSP_000888, VSP_000890, VSP_000895; Name=36; IsoId=Q13936-36; Sequence=VSP_000886, VSP_000888, VSP_000890; Note=Gene prediction based on EST data.; Name=37; IsoId=Q13936-37; Sequence=VSP_000886, VSP_000888, VSP_000890, VSP_000895; Note=Gene prediction based on EST data.; # AltName CAC1C_HUMAN Calcium channel, L type, alpha-1 polypeptide, isoform 1, cardiac muscle # AltName CAC1C_HUMAN Voltage-gated calcium channel subunit alpha Cav1.2 # BioGrid 107229 14 # CCDS CCDS44787 -. [Q13936-23] # CCDS CCDS44788 -. [Q13936-11] # CCDS CCDS44789 -. [Q13936-30] # CCDS CCDS44790 -. [Q13936-31] # CCDS CCDS44791 -. [Q13936-22] # CCDS CCDS44792 -. [Q13936-14] # CCDS CCDS44793 -. [Q13936-24] # CCDS CCDS44794 -. [Q13936-12] # CCDS CCDS44795 -. [Q13936-25] # CCDS CCDS44796 -. [Q13936-15] # CCDS CCDS44797 -. [Q13936-32] # CCDS CCDS44798 -. [Q13936-21] # CCDS CCDS44799 -. [Q13936-27] # CCDS CCDS44800 -. [Q13936-20] # CCDS CCDS44801 -. [Q13936-29] # CCDS CCDS53733 -. [Q13936-36] # CCDS CCDS53734 -. [Q13936-37] # CCDS CCDS53735 -. [Q13936-13] # CCDS CCDS53736 -. [Q13936-33] # ChiTaRS CACNA1C human # DISEASE CAC1C_HUMAN Brugada syndrome 3 (BRGDA3) [MIM 611875] A heart disease characterized by the association of Brugada syndrome with shortened QT intervals. Brugada syndrome is a tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset. {ECO 0000269|PubMed 17224476}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE CAC1C_HUMAN Timothy syndrome (TS) [MIM 601005] Disorder characterized by multiorgan dysfunction including lethal arrhythmias, webbing of fingers and toes, congenital heart disease, immune deficiency, intermittent hypoglycemia, cognitive abnormalities and autism. {ECO 0000269|PubMed 15454078, ECO 0000269|PubMed 15863612, ECO 0000269|PubMed 24728418, ECO 0000269|PubMed 25260352, ECO 0000269|PubMed 25633834, ECO 0000269|PubMed 26253506}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DOMAIN CAC1C_HUMAN Binding of intracellular calcium through the EF-hand motif inhibits the opening of the channel. {ECO 0000250|UniProtKB P15381}. # DOMAIN CAC1C_HUMAN Each of the four internal repeats contains five hydrophobic transmembrane segments (S1, S2, S3, S5, S6) and one positively charged transmembrane segment (S4). S4 segments probably represent the voltage-sensor and are characterized by a series of positively charged amino acids at every third position. # DrugBank DB00270 Isradipine # DrugBank DB00308 Ibutilide # DrugBank DB00381 Amlodipine # DrugBank DB00393 Nimodipine # DrugBank DB00401 Nisoldipine # DrugBank DB00421 Spironolactone # DrugBank DB00568 Cinnarizine # DrugBank DB00622 Nicardipine # DrugBank DB00653 Magnesium Sulfate # DrugBank DB00661 Verapamil # DrugBank DB00898 Ethanol # DrugBank DB01023 Felodipine # DrugBank DB01054 Nitrendipine # DrugBank DB01115 Nifedipine # DrugBank DB04855 Dronedarone # DrugBank DB04920 Clevidipine # DrugBank DB06712 Nilvadipine # DrugBank DB06751 Drotaverine # Ensembl ENST00000344100 ENSP00000341092; ENSG00000151067. [Q13936-14] # Ensembl ENST00000347598 ENSP00000266376; ENSG00000151067. [Q13936-11] # Ensembl ENST00000399591 ENSP00000382500; ENSG00000151067. [Q13936-29] # Ensembl ENST00000399595 ENSP00000382504; ENSG00000151067. [Q13936-25] # Ensembl ENST00000399597 ENSP00000382506; ENSG00000151067. [Q13936-22] # Ensembl ENST00000399601 ENSP00000382510; ENSG00000151067. [Q13936-20] # Ensembl ENST00000399603 ENSP00000382512; ENSG00000151067. [Q13936-37] # Ensembl ENST00000399606 ENSP00000382515; ENSG00000151067. [Q13936-30] # Ensembl ENST00000399621 ENSP00000382530; ENSG00000151067. [Q13936-24] # Ensembl ENST00000399629 ENSP00000382537; ENSG00000151067. [Q13936-32] # Ensembl ENST00000399637 ENSP00000382546; ENSG00000151067. [Q13936-27] # Ensembl ENST00000399638 ENSP00000382547; ENSG00000151067. [Q13936-31] # Ensembl ENST00000399641 ENSP00000382549; ENSG00000151067. [Q13936-23] # Ensembl ENST00000399644 ENSP00000382552; ENSG00000151067. [Q13936-21] # Ensembl ENST00000399649 ENSP00000382557; ENSG00000151067. [Q13936-15] # Ensembl ENST00000399655 ENSP00000382563; ENSG00000151067. [Q13936-12] # Ensembl ENST00000402845 ENSP00000385724; ENSG00000151067. [Q13936-13] # ExpressionAtlas Q13936 baseline and differential # FUNCTION CAC1C_HUMAN Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1C gives rise to L-type calcium currents. Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group. They are blocked by dihydropyridines (DHP), phenylalkylamines, benzothiazepines, and by omega-agatoxin-IIIA (omega-Aga-IIIA). They are however insensitive to omega-conotoxin- GVIA (omega-CTx-GVIA) and omega-agatoxin-IVA (omega-Aga-IVA). Calcium channels containing the alpha-1C subunit play an important role in excitation-contraction coupling in the heart. The various isoforms display marked differences in the sensitivity to DHP compounds. Binding of calmodulin or CABP1 at the same regulatory sites results in an opposit effects on the channel function. {ECO 0000269|PubMed 12176756, ECO 0000269|PubMed 17071743, ECO 0000269|PubMed 7737988, ECO 0000269|PubMed 8392192, ECO 0000269|PubMed 9013606, ECO 0000269|PubMed 9607315}. # GO_component GO:0005737 cytoplasm; IDA:UniProtKB. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0005891 voltage-gated calcium channel complex; IDA:UniProtKB. # GO_component GO:0014069 postsynaptic density; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; IDA:UniProtKB. # GO_component GO:0030018 Z disc; ISS:BHF-UCL. # GO_component GO:1990454 L-type voltage-gated calcium channel complex; IDA:BHF-UCL. # GO_function GO:0005245 voltage-gated calcium channel activity; IDA:UniProtKB. # GO_function GO:0005516 calmodulin binding; IPI:UniProtKB. # GO_function GO:0008331 high voltage-gated calcium channel activity; IDA:BHF-UCL. # GO_function GO:0046872 metal ion binding; IEA:UniProtKB-KW. # GO_function GO:0051393 alpha-actinin binding; IPI:BHF-UCL. # GO_function GO:0086007 voltage-gated calcium channel activity involved in cardiac muscle cell action potential; IMP:BHF-UCL. # GO_function GO:0086056 voltage-gated calcium channel activity involved in AV node cell action potential; IMP:BHF-UCL. # GO_process GO:0002520 immune system development; IMP:BHF-UCL. # GO_process GO:0007204 positive regulation of cytosolic calcium ion concentration; IDA:UniProtKB. # GO_process GO:0007507 heart development; IMP:BHF-UCL. # GO_process GO:0010881 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion; TAS:BHF-UCL. # GO_process GO:0035115 embryonic forelimb morphogenesis; IMP:BHF-UCL. # GO_process GO:0035585 calcium-mediated signaling using extracellular calcium source; TAS:BHF-UCL. # GO_process GO:0043010 camera-type eye development; IMP:BHF-UCL. # GO_process GO:0050796 regulation of insulin secretion; TAS:Reactome. # GO_process GO:0060402 calcium ion transport into cytosol; TAS:BHF-UCL. # GO_process GO:0061337 cardiac conduction; IMP:UniProtKB. # GO_process GO:0061577 calcium ion transmembrane transport via high voltage-gated calcium channel; IDA:BHF-UCL. # GO_process GO:0070588 calcium ion transmembrane transport; IMP:UniProtKB. # GO_process GO:0086002 cardiac muscle cell action potential involved in contraction; IMP:BHF-UCL. # GO_process GO:0086012 membrane depolarization during cardiac muscle cell action potential; IMP:BHF-UCL. # GO_process GO:0086045 membrane depolarization during AV node cell action potential; IMP:BHF-UCL. # GO_process GO:0086064 cell communication by electrical coupling involved in cardiac conduction; TAS:BHF-UCL. # GO_process GO:0086091 regulation of heart rate by cardiac conduction; IMP:BHF-UCL. # GO_process GO:0098911 regulation of ventricular cardiac muscle cell action potential; IMP:BHF-UCL. # GO_process GO:0098912 membrane depolarization during atrial cardiac muscle cell action potential; IMP:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0008092 cytoskeletal protein binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0002376 immune system process # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.20.120.350 -; 6. # Genevisible Q13936 HS # HGNC HGNC:1390 CACNA1C # INTERACTION CAC1C_HUMAN Q9NZU7 CABP1; NbExp=4; IntAct=EBI-1038838, EBI-907894; P62158 CALM3; NbExp=12; IntAct=EBI-1038838, EBI-397435; # IntAct Q13936 4 # InterPro IPR002077 VDCCAlpha1 # InterPro IPR005446 VDCC_L_a1su # InterPro IPR005451 VDCC_L_a1csu # InterPro IPR005821 Ion_trans_dom # InterPro IPR014873 VDCC_a1su_IQ # InterPro IPR027359 Channel_four-helix_dom # InterPro IPR031649 GPHH_dom # InterPro IPR031688 CAC1F_C # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00720 [Cardiovascular disease] Jervell and Lange-Nielsen syndrome (JLNS) # KEGG_Disease H00728 [Cardiovascular disease] Brugada syndrome (BRS) # KEGG_Pathway ko04010 MAPK signaling pathway # KEGG_Pathway ko04020 Calcium signaling pathway # KEGG_Pathway ko04260 Cardiac muscle contraction # KEGG_Pathway ko04270 Vascular smooth muscle contraction # KEGG_Pathway ko04713 Circadian entrainment # KEGG_Pathway ko04720 Long-term potentiation # KEGG_Pathway ko04723 Retrograde endocannabinoid signaling # KEGG_Pathway ko04724 Glutamatergic synapse # KEGG_Pathway ko04725 Cholinergic synapse # KEGG_Pathway ko04726 Serotonergic synapse # KEGG_Pathway ko04727 GABAergic synapse # KEGG_Pathway ko04728 Dopaminergic synapse # KEGG_Pathway ko04912 GnRH signaling pathway # KEGG_Pathway ko04930 Type II diabetes mellitus # KEGG_Pathway ko05010 Alzheimer's disease # KEGG_Pathway ko05031 Amphetamine addiction # KEGG_Pathway ko05410 Hypertrophic cardiomyopathy (HCM) # KEGG_Pathway ko05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC) # KEGG_Pathway ko05414 Dilated cardiomyopathy # MIM 114205 gene # MIM 601005 phenotype # MIM 611875 phenotype # Organism CAC1C_HUMAN Homo sapiens (Human) # Orphanet 130 Brugada syndrome # Orphanet 65283 Timothy syndrome # PANTHER PTHR10037:SF188 PTHR10037:SF188; 3 # PDB 1T0J X-ray; 2.00 A; C=428-445 # PDB 2BE6 X-ray; 2.00 A; D/E/F=1659-1692 # PDB 2F3Y X-ray; 1.45 A; B=1665-1685 # PDB 2F3Z X-ray; 1.60 A; B=1665-1685 # PDB 2LQC NMR; -; B=47-68 # PDB 3G43 X-ray; 2.10 A; E/F=1609-1682 # PDB 3OXQ X-ray; 2.55 A; E/F=1609-1685 # PIR A23660 A23660 # PIR A44363 A44363 # PIR A45290 A45290 # PIR B23660 B23660 # PIR C23660 C23660 # PIR I54168 I54168 # PRINTS PR00167 CACHANNEL # PRINTS PR01630 LVDCCALPHA1 # PRINTS PR01635 LVDCCALPHA1C # PTM CAC1C_HUMAN Phosphorylation by PKA activates the channel. {ECO 0000250|UniProtKB P15381}. # Pfam PF00520 Ion_trans; 5 # Pfam PF08763 Ca_chan_IQ # Pfam PF16885 CAC1F_C; 2 # Pfam PF16905 GPHH # Proteomes UP000005640 Chromosome 12 # Reactome R-HSA-400042 Adrenaline,noradrenaline inhibits insulin secretion # Reactome R-HSA-419037 NCAM1 interactions # Reactome R-HSA-422356 Regulation of insulin secretion # Reactome R-HSA-5576892 Phase 0 - rapid depolarisation # Reactome R-HSA-5576893 Phase 2 - plateau phase # Reactome R-HSA-5576894 Phase 1 - inactivation of fast Na+ channels # RecName CAC1C_HUMAN Voltage-dependent L-type calcium channel subunit alpha-1C # RefSeq NP_000710 NM_000719.6. [Q13936-12] # RefSeq NP_001123299 NM_001129827.1. [Q13936-11] # RefSeq NP_001123301 NM_001129829.1. [Q13936-14] # RefSeq NP_001123302 NM_001129830.2 # RefSeq NP_001123303 NM_001129831.1. [Q13936-31] # RefSeq NP_001123304 NM_001129832.1. [Q13936-30] # RefSeq NP_001123305 NM_001129833.1. [Q13936-13] # RefSeq NP_001123306 NM_001129834.1. [Q13936-24] # RefSeq NP_001123307 NM_001129835.1. [Q13936-27] # RefSeq NP_001123308 NM_001129836.1. [Q13936-32] # RefSeq NP_001123309 NM_001129837.1. [Q13936-25] # RefSeq NP_001123310 NM_001129838.1. [Q13936-29] # RefSeq NP_001123311 NM_001129839.1. [Q13936-15] # RefSeq NP_001123312 NM_001129840.1. [Q13936-23] # RefSeq NP_001123313 NM_001129841.1. [Q13936-21] # RefSeq NP_001123314 NM_001129842.1. [Q13936-22] # RefSeq NP_001123315 NM_001129843.1. [Q13936-20] # RefSeq NP_001123316 NM_001129844.1. [Q13936-35] # RefSeq NP_001123318 NM_001129846.1. [Q13936-19] # RefSeq NP_001161095 NM_001167623.1. [Q13936-37] # RefSeq NP_001161096 NM_001167624.2 # RefSeq NP_001161097 NM_001167625.1 # RefSeq NP_955630 NM_199460.3 # SEQUENCE CAUTION Sequence=AAA02500.2; Type=Frameshift; Positions=1844; Evidence={ECO 0000305}; # SIMILARITY Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1C subfamily. {ECO 0000305}. # SMART SM01062 Ca_chan_IQ # SUBCELLULAR LOCATION CAC1C_HUMAN Membrane {ECO 0000250|UniProtKB P15381}; Multi-pass membrane protein {ECO 0000250|UniProtKB P15381}. Cell membrane {ECO 0000250|UniProtKB P15381}. Note=The interaction between RRAD and CACNB2 regulates its trafficking to the cell membrane. {ECO 0000250|UniProtKB P15381}. # SUBUNIT CAC1C_HUMAN Voltage-dependent calcium channels are multisubunit complexes, consisting of alpha-1, alpha-2, beta and delta subunits in a 1 1 1 1 ratio. The channel activity is directed by the pore- forming and voltage-sensitive alpha-1 subunit. In many cases, this subunit is sufficient to generate voltage-sensitive calcium channel activity. The auxiliary subunits beta and alpha-2/delta linked by a disulfide bridge regulate the channel activity. Interacts with CACNA2D4. Interacts (via the N-terminus and the C- terminal C and IQ motifs) with CABP1. The binding via the C motif is calcium independent whereas the binding via IQ requires the presence of calcium and is mutually exclusive with calmodulin binding. The binding to the cytoplasmic N-terminal domain is calcium independent but is essential for the channel modulation. Interacts (via C-terminal CDB motif) with CABP5; in a calcium- dependent manner (By similarity). Interacts with CIB1; the interaction increases upon cardiomyocytes hypertrophy (By similarity). {ECO 0000250, ECO 0000269|PubMed 12181424, ECO 0000269|PubMed 15140941, ECO 0000269|PubMed 15141227, ECO 0000269|PubMed 15980432}. # TCDB 1.A.1.11 the voltage-gated ion channel (vic) superfamily # TISSUE SPECIFICITY CAC1C_HUMAN Expressed in brain, heart, jejunum, ovary, pancreatic beta-cells and vascular smooth muscle. Overall expression is reduced in atherosclerotic vascular smooth muscle. {ECO 0000269|PubMed 12176756, ECO 0000269|PubMed 17071743, ECO 0000269|PubMed 8392192}. # UCSC uc001qjz human. [Q13936-1] # eggNOG ENOG410XNP6 LUCA # eggNOG KOG2301 Eukaryota BLAST swissprot:CAC1C_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CAC1C_HUMAN BioCyc ZFISH:ENSG00000151067-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000151067-MONOMER COXPRESdb 775 http://coxpresdb.jp/data/gene/775.shtml DIP DIP-29589N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-29589N DOI 10.1006/geno.1994.1347 http://dx.doi.org/10.1006/geno.1994.1347 DOI 10.1016/0888-7543(91)90471-P http://dx.doi.org/10.1016/0888-7543(91)90471-P DOI 10.1016/S0014-5793(98)00425-6 http://dx.doi.org/10.1016/S0014-5793(98)00425-6 DOI 10.1016/S0888-7543(05)80135-1 http://dx.doi.org/10.1016/S0888-7543(05)80135-1 DOI 10.1016/j.cell.2004.09.011 http://dx.doi.org/10.1016/j.cell.2004.09.011 DOI 10.1016/j.hrthm.2014.09.051 http://dx.doi.org/10.1016/j.hrthm.2014.09.051 DOI 10.1016/j.yjmcc.2015.01.002 http://dx.doi.org/10.1016/j.yjmcc.2015.01.002 DOI 10.1038/nature02588 http://dx.doi.org/10.1038/nature02588 DOI 10.1038/nature04569 http://dx.doi.org/10.1038/nature04569 DOI 10.1038/nature09639 http://dx.doi.org/10.1038/nature09639 DOI 10.1073/pnas.0502506102 http://dx.doi.org/10.1073/pnas.0502506102 DOI 10.1073/pnas.0606539103 http://dx.doi.org/10.1073/pnas.0606539103 DOI 10.1073/pnas.89.10.4628 http://dx.doi.org/10.1073/pnas.89.10.4628 DOI 10.1073/pnas.90.13.6228 http://dx.doi.org/10.1073/pnas.90.13.6228 DOI 10.1074/jbc.270.18.10540 http://dx.doi.org/10.1074/jbc.270.18.10540 DOI 10.1074/jbc.272.6.3560 http://dx.doi.org/10.1074/jbc.272.6.3560 DOI 10.1074/jbc.C100642200 http://dx.doi.org/10.1074/jbc.C100642200 DOI 10.1074/jbc.M504167200 http://dx.doi.org/10.1074/jbc.M504167200 DOI 10.1093/europace/euu063 http://dx.doi.org/10.1093/europace/euu063 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/chd.12371 http://dx.doi.org/10.1111/chd.12371 DOI 10.1124/mol.62.3.485 http://dx.doi.org/10.1124/mol.62.3.485 DOI 10.1152/ajpcell.00140.2002 http://dx.doi.org/10.1152/ajpcell.00140.2002 DOI 10.1161/CIRCEP.115.002745 http://dx.doi.org/10.1161/CIRCEP.115.002745 DOI 10.1161/CIRCULATIONAHA.106.668392 http://dx.doi.org/10.1161/CIRCULATIONAHA.106.668392 DOI 10.1523/JNEUROSCI.5523-03.2004 http://dx.doi.org/10.1523/JNEUROSCI.5523-03.2004 DrugBank DB00270 http://www.drugbank.ca/drugs/DB00270 DrugBank DB00308 http://www.drugbank.ca/drugs/DB00308 DrugBank DB00381 http://www.drugbank.ca/drugs/DB00381 DrugBank DB00393 http://www.drugbank.ca/drugs/DB00393 DrugBank DB00401 http://www.drugbank.ca/drugs/DB00401 DrugBank DB00421 http://www.drugbank.ca/drugs/DB00421 DrugBank DB00568 http://www.drugbank.ca/drugs/DB00568 DrugBank DB00622 http://www.drugbank.ca/drugs/DB00622 DrugBank DB00653 http://www.drugbank.ca/drugs/DB00653 DrugBank DB00661 http://www.drugbank.ca/drugs/DB00661 DrugBank DB00898 http://www.drugbank.ca/drugs/DB00898 DrugBank DB01023 http://www.drugbank.ca/drugs/DB01023 DrugBank DB01054 http://www.drugbank.ca/drugs/DB01054 DrugBank DB01115 http://www.drugbank.ca/drugs/DB01115 DrugBank DB04855 http://www.drugbank.ca/drugs/DB04855 DrugBank DB04920 http://www.drugbank.ca/drugs/DB04920 DrugBank DB06712 http://www.drugbank.ca/drugs/DB06712 DrugBank DB06751 http://www.drugbank.ca/drugs/DB06751 EMBL AC005293 http://www.ebi.ac.uk/ena/data/view/AC005293 EMBL AC005342 http://www.ebi.ac.uk/ena/data/view/AC005342 EMBL AC005344 http://www.ebi.ac.uk/ena/data/view/AC005344 EMBL AC005414 http://www.ebi.ac.uk/ena/data/view/AC005414 EMBL AC005866 http://www.ebi.ac.uk/ena/data/view/AC005866 EMBL AC006051 http://www.ebi.ac.uk/ena/data/view/AC006051 EMBL AC007618 http://www.ebi.ac.uk/ena/data/view/AC007618 EMBL AF465484 http://www.ebi.ac.uk/ena/data/view/AF465484 EMBL AJ224873 http://www.ebi.ac.uk/ena/data/view/AJ224873 EMBL AY604867 http://www.ebi.ac.uk/ena/data/view/AY604867 EMBL AY830711 http://www.ebi.ac.uk/ena/data/view/AY830711 EMBL AY830712 http://www.ebi.ac.uk/ena/data/view/AY830712 EMBL AY830713 http://www.ebi.ac.uk/ena/data/view/AY830713 EMBL BC146846 http://www.ebi.ac.uk/ena/data/view/BC146846 EMBL L04568 http://www.ebi.ac.uk/ena/data/view/L04568 EMBL L04569 http://www.ebi.ac.uk/ena/data/view/L04569 EMBL L29529 http://www.ebi.ac.uk/ena/data/view/L29529 EMBL L29530 http://www.ebi.ac.uk/ena/data/view/L29530 EMBL L29531 http://www.ebi.ac.uk/ena/data/view/L29531 EMBL L29532 http://www.ebi.ac.uk/ena/data/view/L29532 EMBL L29533 http://www.ebi.ac.uk/ena/data/view/L29533 EMBL L29534 http://www.ebi.ac.uk/ena/data/view/L29534 EMBL L29535 http://www.ebi.ac.uk/ena/data/view/L29535 EMBL L29536 http://www.ebi.ac.uk/ena/data/view/L29536 EMBL L29537 http://www.ebi.ac.uk/ena/data/view/L29537 EMBL L29538 http://www.ebi.ac.uk/ena/data/view/L29538 EMBL L29539 http://www.ebi.ac.uk/ena/data/view/L29539 EMBL M57971 http://www.ebi.ac.uk/ena/data/view/M57971 EMBL M57972 http://www.ebi.ac.uk/ena/data/view/M57972 EMBL M61130 http://www.ebi.ac.uk/ena/data/view/M61130 EMBL M91370 http://www.ebi.ac.uk/ena/data/view/M91370 EMBL M92269 http://www.ebi.ac.uk/ena/data/view/M92269 EMBL M92270 http://www.ebi.ac.uk/ena/data/view/M92270 EMBL M92271 http://www.ebi.ac.uk/ena/data/view/M92271 EMBL M92272 http://www.ebi.ac.uk/ena/data/view/M92272 EMBL M92273 http://www.ebi.ac.uk/ena/data/view/M92273 EMBL M92274 http://www.ebi.ac.uk/ena/data/view/M92274 EMBL M92275 http://www.ebi.ac.uk/ena/data/view/M92275 EMBL Z26256 http://www.ebi.ac.uk/ena/data/view/Z26256 EMBL Z26257 http://www.ebi.ac.uk/ena/data/view/Z26257 EMBL Z26258 http://www.ebi.ac.uk/ena/data/view/Z26258 EMBL Z26259 http://www.ebi.ac.uk/ena/data/view/Z26259 EMBL Z26260 http://www.ebi.ac.uk/ena/data/view/Z26260 EMBL Z26261 http://www.ebi.ac.uk/ena/data/view/Z26261 EMBL Z26262 http://www.ebi.ac.uk/ena/data/view/Z26262 EMBL Z26263 http://www.ebi.ac.uk/ena/data/view/Z26263 EMBL Z26264 http://www.ebi.ac.uk/ena/data/view/Z26264 EMBL Z26265 http://www.ebi.ac.uk/ena/data/view/Z26265 EMBL Z26266 http://www.ebi.ac.uk/ena/data/view/Z26266 EMBL Z26267 http://www.ebi.ac.uk/ena/data/view/Z26267 EMBL Z26268 http://www.ebi.ac.uk/ena/data/view/Z26268 EMBL Z26269 http://www.ebi.ac.uk/ena/data/view/Z26269 EMBL Z26271 http://www.ebi.ac.uk/ena/data/view/Z26271 EMBL Z26272 http://www.ebi.ac.uk/ena/data/view/Z26272 EMBL Z26273 http://www.ebi.ac.uk/ena/data/view/Z26273 EMBL Z26274 http://www.ebi.ac.uk/ena/data/view/Z26274 EMBL Z26275 http://www.ebi.ac.uk/ena/data/view/Z26275 EMBL Z26276 http://www.ebi.ac.uk/ena/data/view/Z26276 EMBL Z26277 http://www.ebi.ac.uk/ena/data/view/Z26277 EMBL Z26278 http://www.ebi.ac.uk/ena/data/view/Z26278 EMBL Z26279 http://www.ebi.ac.uk/ena/data/view/Z26279 EMBL Z26280 http://www.ebi.ac.uk/ena/data/view/Z26280 EMBL Z26281 http://www.ebi.ac.uk/ena/data/view/Z26281 EMBL Z26282 http://www.ebi.ac.uk/ena/data/view/Z26282 EMBL Z26283 http://www.ebi.ac.uk/ena/data/view/Z26283 EMBL Z26284 http://www.ebi.ac.uk/ena/data/view/Z26284 EMBL Z26286 http://www.ebi.ac.uk/ena/data/view/Z26286 EMBL Z26287 http://www.ebi.ac.uk/ena/data/view/Z26287 EMBL Z26288 http://www.ebi.ac.uk/ena/data/view/Z26288 EMBL Z26294 http://www.ebi.ac.uk/ena/data/view/Z26294 EMBL Z26295 http://www.ebi.ac.uk/ena/data/view/Z26295 EMBL Z26308 http://www.ebi.ac.uk/ena/data/view/Z26308 EMBL Z34809 http://www.ebi.ac.uk/ena/data/view/Z34809 EMBL Z34810 http://www.ebi.ac.uk/ena/data/view/Z34810 EMBL Z34811 http://www.ebi.ac.uk/ena/data/view/Z34811 EMBL Z34812 http://www.ebi.ac.uk/ena/data/view/Z34812 EMBL Z34813 http://www.ebi.ac.uk/ena/data/view/Z34813 EMBL Z34814 http://www.ebi.ac.uk/ena/data/view/Z34814 EMBL Z34815 http://www.ebi.ac.uk/ena/data/view/Z34815 EMBL Z34816 http://www.ebi.ac.uk/ena/data/view/Z34816 EMBL Z34817 http://www.ebi.ac.uk/ena/data/view/Z34817 EMBL Z34818 http://www.ebi.ac.uk/ena/data/view/Z34818 EMBL Z34819 http://www.ebi.ac.uk/ena/data/view/Z34819 EMBL Z34820 http://www.ebi.ac.uk/ena/data/view/Z34820 EMBL Z34821 http://www.ebi.ac.uk/ena/data/view/Z34821 EMBL Z34822 http://www.ebi.ac.uk/ena/data/view/Z34822 EMBL Z74996 http://www.ebi.ac.uk/ena/data/view/Z74996 Ensembl ENST00000344100 http://www.ensembl.org/id/ENST00000344100 Ensembl ENST00000347598 http://www.ensembl.org/id/ENST00000347598 Ensembl ENST00000399591 http://www.ensembl.org/id/ENST00000399591 Ensembl ENST00000399595 http://www.ensembl.org/id/ENST00000399595 Ensembl ENST00000399597 http://www.ensembl.org/id/ENST00000399597 Ensembl ENST00000399601 http://www.ensembl.org/id/ENST00000399601 Ensembl ENST00000399603 http://www.ensembl.org/id/ENST00000399603 Ensembl ENST00000399606 http://www.ensembl.org/id/ENST00000399606 Ensembl ENST00000399621 http://www.ensembl.org/id/ENST00000399621 Ensembl ENST00000399629 http://www.ensembl.org/id/ENST00000399629 Ensembl ENST00000399637 http://www.ensembl.org/id/ENST00000399637 Ensembl ENST00000399638 http://www.ensembl.org/id/ENST00000399638 Ensembl ENST00000399641 http://www.ensembl.org/id/ENST00000399641 Ensembl ENST00000399644 http://www.ensembl.org/id/ENST00000399644 Ensembl ENST00000399649 http://www.ensembl.org/id/ENST00000399649 Ensembl ENST00000399655 http://www.ensembl.org/id/ENST00000399655 Ensembl ENST00000402845 http://www.ensembl.org/id/ENST00000402845 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005891 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005891 GO_component GO:0014069 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014069 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0030018 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030018 GO_component GO:1990454 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1990454 GO_function GO:0005245 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005245 GO_function GO:0005516 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005516 GO_function GO:0008331 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008331 GO_function GO:0046872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046872 GO_function GO:0051393 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051393 GO_function GO:0086007 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086007 GO_function GO:0086056 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086056 GO_process GO:0002520 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002520 GO_process GO:0007204 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007204 GO_process GO:0007507 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007507 GO_process GO:0010881 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010881 GO_process GO:0035115 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035115 GO_process GO:0035585 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035585 GO_process GO:0043010 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043010 GO_process GO:0050796 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050796 GO_process GO:0060402 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060402 GO_process GO:0061337 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061337 GO_process GO:0061577 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061577 GO_process GO:0070588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070588 GO_process GO:0086002 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086002 GO_process GO:0086012 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086012 GO_process GO:0086045 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086045 GO_process GO:0086064 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086064 GO_process GO:0086091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086091 GO_process GO:0098911 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0098911 GO_process GO:0098912 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0098912 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0008092 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008092 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0002376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002376 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.20.120.350 http://www.cathdb.info/version/latest/superfamily/1.20.120.350 GeneCards CACNA1C http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CACNA1C GeneID 775 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=775 GeneTree ENSGT00830000128247 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00830000128247 H-InvDB HIX0010327 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0010327 HGNC HGNC:1390 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:1390 HOVERGEN HBG050763 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050763&db=HOVERGEN HPA HPA039796 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA039796 InParanoid Q13936 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q13936 IntAct Q13936 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q13936* InterPro IPR002077 http://www.ebi.ac.uk/interpro/entry/IPR002077 InterPro IPR005446 http://www.ebi.ac.uk/interpro/entry/IPR005446 InterPro IPR005451 http://www.ebi.ac.uk/interpro/entry/IPR005451 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR014873 http://www.ebi.ac.uk/interpro/entry/IPR014873 InterPro IPR027359 http://www.ebi.ac.uk/interpro/entry/IPR027359 InterPro IPR031649 http://www.ebi.ac.uk/interpro/entry/IPR031649 InterPro IPR031688 http://www.ebi.ac.uk/interpro/entry/IPR031688 Jabion 775 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=775 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00720 http://www.genome.jp/dbget-bin/www_bget?H00720 KEGG_Disease H00728 http://www.genome.jp/dbget-bin/www_bget?H00728 KEGG_Gene hsa:775 http://www.genome.jp/dbget-bin/www_bget?hsa:775 KEGG_Orthology KO:K04850 http://www.genome.jp/dbget-bin/www_bget?KO:K04850 KEGG_Pathway ko04010 http://www.genome.jp/kegg-bin/show_pathway?ko04010 KEGG_Pathway ko04020 http://www.genome.jp/kegg-bin/show_pathway?ko04020 KEGG_Pathway ko04260 http://www.genome.jp/kegg-bin/show_pathway?ko04260 KEGG_Pathway ko04270 http://www.genome.jp/kegg-bin/show_pathway?ko04270 KEGG_Pathway ko04713 http://www.genome.jp/kegg-bin/show_pathway?ko04713 KEGG_Pathway ko04720 http://www.genome.jp/kegg-bin/show_pathway?ko04720 KEGG_Pathway ko04723 http://www.genome.jp/kegg-bin/show_pathway?ko04723 KEGG_Pathway ko04724 http://www.genome.jp/kegg-bin/show_pathway?ko04724 KEGG_Pathway ko04725 http://www.genome.jp/kegg-bin/show_pathway?ko04725 KEGG_Pathway ko04726 http://www.genome.jp/kegg-bin/show_pathway?ko04726 KEGG_Pathway ko04727 http://www.genome.jp/kegg-bin/show_pathway?ko04727 KEGG_Pathway ko04728 http://www.genome.jp/kegg-bin/show_pathway?ko04728 KEGG_Pathway ko04912 http://www.genome.jp/kegg-bin/show_pathway?ko04912 KEGG_Pathway ko04930 http://www.genome.jp/kegg-bin/show_pathway?ko04930 KEGG_Pathway ko05010 http://www.genome.jp/kegg-bin/show_pathway?ko05010 KEGG_Pathway ko05031 http://www.genome.jp/kegg-bin/show_pathway?ko05031 KEGG_Pathway ko05410 http://www.genome.jp/kegg-bin/show_pathway?ko05410 KEGG_Pathway ko05412 http://www.genome.jp/kegg-bin/show_pathway?ko05412 KEGG_Pathway ko05414 http://www.genome.jp/kegg-bin/show_pathway?ko05414 MIM 114205 http://www.ncbi.nlm.nih.gov/omim/114205 MIM 601005 http://www.ncbi.nlm.nih.gov/omim/601005 MIM 611875 http://www.ncbi.nlm.nih.gov/omim/611875 Orphanet 130 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=130 Orphanet 65283 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=65283 PANTHER PTHR10037:SF188 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10037:SF188 PDB 1T0J http://www.ebi.ac.uk/pdbe-srv/view/entry/1T0J PDB 2BE6 http://www.ebi.ac.uk/pdbe-srv/view/entry/2BE6 PDB 2F3Y http://www.ebi.ac.uk/pdbe-srv/view/entry/2F3Y PDB 2F3Z http://www.ebi.ac.uk/pdbe-srv/view/entry/2F3Z PDB 2LQC http://www.ebi.ac.uk/pdbe-srv/view/entry/2LQC PDB 3G43 http://www.ebi.ac.uk/pdbe-srv/view/entry/3G43 PDB 3OXQ http://www.ebi.ac.uk/pdbe-srv/view/entry/3OXQ PDBsum 1T0J http://www.ebi.ac.uk/pdbsum/1T0J PDBsum 2BE6 http://www.ebi.ac.uk/pdbsum/2BE6 PDBsum 2F3Y http://www.ebi.ac.uk/pdbsum/2F3Y PDBsum 2F3Z http://www.ebi.ac.uk/pdbsum/2F3Z PDBsum 2LQC http://www.ebi.ac.uk/pdbsum/2LQC PDBsum 3G43 http://www.ebi.ac.uk/pdbsum/3G43 PDBsum 3OXQ http://www.ebi.ac.uk/pdbsum/3OXQ PRINTS PR00167 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00167 PRINTS PR01630 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01630 PRINTS PR01635 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01635 PSORT swissprot:CAC1C_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CAC1C_HUMAN PSORT-B swissprot:CAC1C_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CAC1C_HUMAN PSORT2 swissprot:CAC1C_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CAC1C_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF08763 http://pfam.xfam.org/family/PF08763 Pfam PF16885 http://pfam.xfam.org/family/PF16885 Pfam PF16905 http://pfam.xfam.org/family/PF16905 PharmGKB PA83 http://www.pharmgkb.org/do/serve?objId=PA83&objCls=Gene Phobius swissprot:CAC1C_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CAC1C_HUMAN PhylomeDB Q13936 http://phylomedb.org/?seqid=Q13936 ProteinModelPortal Q13936 http://www.proteinmodelportal.org/query/uniprot/Q13936 PubMed 11741969 http://www.ncbi.nlm.nih.gov/pubmed/11741969 PubMed 12176756 http://www.ncbi.nlm.nih.gov/pubmed/12176756 PubMed 12181424 http://www.ncbi.nlm.nih.gov/pubmed/12181424 PubMed 1316612 http://www.ncbi.nlm.nih.gov/pubmed/1316612 PubMed 1335957 http://www.ncbi.nlm.nih.gov/pubmed/1335957 PubMed 15140941 http://www.ncbi.nlm.nih.gov/pubmed/15140941 PubMed 15141227 http://www.ncbi.nlm.nih.gov/pubmed/15141227 PubMed 15454078 http://www.ncbi.nlm.nih.gov/pubmed/15454078 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15863612 http://www.ncbi.nlm.nih.gov/pubmed/15863612 PubMed 15980432 http://www.ncbi.nlm.nih.gov/pubmed/15980432 PubMed 1653763 http://www.ncbi.nlm.nih.gov/pubmed/1653763 PubMed 16541075 http://www.ncbi.nlm.nih.gov/pubmed/16541075 PubMed 17071743 http://www.ncbi.nlm.nih.gov/pubmed/17071743 PubMed 17224476 http://www.ncbi.nlm.nih.gov/pubmed/17224476 PubMed 21248752 http://www.ncbi.nlm.nih.gov/pubmed/21248752 PubMed 2173707 http://www.ncbi.nlm.nih.gov/pubmed/2173707 PubMed 24728418 http://www.ncbi.nlm.nih.gov/pubmed/24728418 PubMed 25260352 http://www.ncbi.nlm.nih.gov/pubmed/25260352 PubMed 25633834 http://www.ncbi.nlm.nih.gov/pubmed/25633834 PubMed 26253506 http://www.ncbi.nlm.nih.gov/pubmed/26253506 PubMed 27218670 http://www.ncbi.nlm.nih.gov/pubmed/27218670 PubMed 7737988 http://www.ncbi.nlm.nih.gov/pubmed/7737988 PubMed 7959794 http://www.ncbi.nlm.nih.gov/pubmed/7959794 PubMed 8099908 http://www.ncbi.nlm.nih.gov/pubmed/8099908 PubMed 8392192 http://www.ncbi.nlm.nih.gov/pubmed/8392192 PubMed 9013606 http://www.ncbi.nlm.nih.gov/pubmed/9013606 PubMed 9087614 http://www.ncbi.nlm.nih.gov/pubmed/9087614 PubMed 9607315 http://www.ncbi.nlm.nih.gov/pubmed/9607315 Reactome R-HSA-400042 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-400042 Reactome R-HSA-419037 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-419037 Reactome R-HSA-422356 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-422356 Reactome R-HSA-5576892 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576892 Reactome R-HSA-5576893 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576893 Reactome R-HSA-5576894 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576894 RefSeq NP_000710 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000710 RefSeq NP_001123299 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001123299 RefSeq NP_001123301 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001123301 RefSeq NP_001123302 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001123302 RefSeq NP_001123303 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001123303 RefSeq NP_001123304 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001123304 RefSeq NP_001123305 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001123305 RefSeq NP_001123306 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001123306 RefSeq NP_001123307 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001123307 RefSeq NP_001123308 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001123308 RefSeq NP_001123309 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001123309 RefSeq NP_001123310 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001123310 RefSeq NP_001123311 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001123311 RefSeq NP_001123312 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001123312 RefSeq NP_001123313 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001123313 RefSeq NP_001123314 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001123314 RefSeq NP_001123315 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001123315 RefSeq NP_001123316 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001123316 RefSeq NP_001123318 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001123318 RefSeq NP_001161095 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001161095 RefSeq NP_001161096 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001161096 RefSeq NP_001161097 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001161097 RefSeq NP_955630 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_955630 SMART SM01062 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM01062 SMR Q13936 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q13936 STRING 9606.ENSP00000266376 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000266376&targetmode=cogs TCDB 1.A.1.11 http://www.tcdb.org/search/result.php?tc=1.A.1.11 UCSC uc001qjz http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001qjz&org=rat UniGene Hs.118262 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.118262 UniGene Hs.690010 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.690010 UniProtKB CAC1C_HUMAN http://www.uniprot.org/uniprot/CAC1C_HUMAN UniProtKB-AC Q13936 http://www.uniprot.org/uniprot/Q13936 charge swissprot:CAC1C_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CAC1C_HUMAN eggNOG ENOG410XNP6 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XNP6 eggNOG KOG2301 http://eggnogapi.embl.de/nog_data/html/tree/KOG2301 epestfind swissprot:CAC1C_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CAC1C_HUMAN garnier swissprot:CAC1C_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CAC1C_HUMAN helixturnhelix swissprot:CAC1C_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CAC1C_HUMAN hmoment swissprot:CAC1C_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CAC1C_HUMAN iep swissprot:CAC1C_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CAC1C_HUMAN inforesidue swissprot:CAC1C_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CAC1C_HUMAN neXtProt NX_Q13936 http://www.nextprot.org/db/entry/NX_Q13936 octanol swissprot:CAC1C_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CAC1C_HUMAN pepcoil swissprot:CAC1C_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CAC1C_HUMAN pepdigest swissprot:CAC1C_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CAC1C_HUMAN pepinfo swissprot:CAC1C_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CAC1C_HUMAN pepnet swissprot:CAC1C_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CAC1C_HUMAN pepstats swissprot:CAC1C_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CAC1C_HUMAN pepwheel swissprot:CAC1C_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CAC1C_HUMAN pepwindow swissprot:CAC1C_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CAC1C_HUMAN sigcleave swissprot:CAC1C_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CAC1C_HUMAN ## Database ID URL or Descriptions # AltName ASIC5_HUMAN Amiloride-sensitive cation channel 5 # AltName ASIC5_HUMAN Human intestine Na(+) channel # Ensembl ENST00000537611 ENSP00000442477; ENSG00000256394 # FUNCTION ASIC5_HUMAN Cation channel that gives rise to very low constitutive currents in the absence of activation. The activated channel exhibits selectivity for sodium, and is inhibited by amiloride. {ECO 0000269|PubMed 10767424}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0015252 hydrogen ion channel activity; IEA:Ensembl. # GO_function GO:0044736 acid-sensing ion channel activity; TAS:Reactome. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0055085 transmembrane transport # Genevisible Q9NY37 HS # HGNC HGNC:17537 ASIC5 # InterPro IPR001873 Na+channel_ASC # KEGG_Brite ko04040 Ion channels # MIM 616693 gene # Organism ASIC5_HUMAN Homo sapiens (Human) # PANTHER PTHR11690 PTHR11690 # PRINTS PR01078 AMINACHANNEL # Pfam PF00858 ASC # Proteomes UP000005640 Chromosome 4 # Reactome R-HSA-2672351 Stimuli-sensing channels # RecName ASIC5_HUMAN Acid-sensing ion channel 5 # RefSeq NP_059115 NM_017419.2 # SIMILARITY Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family. ASIC5 subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION ASIC5_HUMAN Cell membrane {ECO 0000269|PubMed 10767424}; Multi-pass membrane protein {ECO 0000269|PubMed 10767424}. # SUBUNIT Homotrimer or heterotrimer with other ASIC proteins. {ECO 0000250}. # TCDB 1.A.6.1.11 the epithelial na(+) channel (enac) family # TISSUE SPECIFICITY Detected in small intestine, duodenum and jejunum. Detected at very low levels in testis and rectum. {ECO:0000269|PubMed 10767424}. # UCSC uc003ipe human # eggNOG ENOG410ZNFK LUCA # eggNOG KOG4294 Eukaryota BLAST swissprot:ASIC5_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ASIC5_HUMAN BioCyc ZFISH:ENSG00000023843-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000023843-MONOMER COXPRESdb 51802 http://coxpresdb.jp/data/gene/51802.shtml CleanEx HS_ACCN5 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ACCN5 DOI 10.1016/S0014-5793(00)01403-4 http://dx.doi.org/10.1016/S0014-5793(00)01403-4 EMBL AJ252011 http://www.ebi.ac.uk/ena/data/view/AJ252011 EMBL CH471056 http://www.ebi.ac.uk/ena/data/view/CH471056 Ensembl ENST00000537611 http://www.ensembl.org/id/ENST00000537611 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0015252 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015252 GO_function GO:0044736 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044736 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards ASIC5 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ASIC5 GeneID 51802 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=51802 GeneTree ENSGT00760000119120 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119120 HGNC HGNC:17537 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:17537 HOGENOM HOG000033777 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000033777&db=HOGENOM6 HOVERGEN HBG095680 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG095680&db=HOVERGEN HPA HPA014903 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA014903 HPA HPA029444 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA029444 InParanoid Q9NY37 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9NY37 InterPro IPR001873 http://www.ebi.ac.uk/interpro/entry/IPR001873 Jabion 51802 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=51802 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:51802 http://www.genome.jp/dbget-bin/www_bget?hsa:51802 KEGG_Orthology KO:K04832 http://www.genome.jp/dbget-bin/www_bget?KO:K04832 MIM 616693 http://www.ncbi.nlm.nih.gov/omim/616693 OMA TERKKFD http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=TERKKFD OrthoDB EOG091G053J http://cegg.unige.ch/orthodb/results?searchtext=EOG091G053J PANTHER PTHR11690 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11690 PRINTS PR01078 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01078 PSORT swissprot:ASIC5_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ASIC5_HUMAN PSORT-B swissprot:ASIC5_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ASIC5_HUMAN PSORT2 swissprot:ASIC5_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ASIC5_HUMAN Pfam PF00858 http://pfam.xfam.org/family/PF00858 PharmGKB PA134946702 http://www.pharmgkb.org/do/serve?objId=PA134946702&objCls=Gene Phobius swissprot:ASIC5_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ASIC5_HUMAN PhylomeDB Q9NY37 http://phylomedb.org/?seqid=Q9NY37 ProteinModelPortal Q9NY37 http://www.proteinmodelportal.org/query/uniprot/Q9NY37 PubMed 10767424 http://www.ncbi.nlm.nih.gov/pubmed/10767424 Reactome R-HSA-2672351 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2672351 RefSeq NP_059115 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_059115 SMR Q9NY37 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9NY37 STRING 9606.ENSP00000442477 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000442477&targetmode=cogs TCDB 1.A.6.1.11 http://www.tcdb.org/search/result.php?tc=1.A.6.1.11 UCSC uc003ipe http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003ipe&org=rat UniGene Hs.381349 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.381349 UniProtKB ASIC5_HUMAN http://www.uniprot.org/uniprot/ASIC5_HUMAN UniProtKB-AC Q9NY37 http://www.uniprot.org/uniprot/Q9NY37 charge swissprot:ASIC5_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ASIC5_HUMAN eggNOG ENOG410ZNFK http://eggnogapi.embl.de/nog_data/html/tree/ENOG410ZNFK eggNOG KOG4294 http://eggnogapi.embl.de/nog_data/html/tree/KOG4294 epestfind swissprot:ASIC5_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ASIC5_HUMAN garnier swissprot:ASIC5_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ASIC5_HUMAN helixturnhelix swissprot:ASIC5_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ASIC5_HUMAN hmoment swissprot:ASIC5_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ASIC5_HUMAN iep swissprot:ASIC5_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ASIC5_HUMAN inforesidue swissprot:ASIC5_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ASIC5_HUMAN neXtProt NX_Q9NY37 http://www.nextprot.org/db/entry/NX_Q9NY37 octanol swissprot:ASIC5_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ASIC5_HUMAN pepcoil swissprot:ASIC5_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ASIC5_HUMAN pepdigest swissprot:ASIC5_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ASIC5_HUMAN pepinfo swissprot:ASIC5_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ASIC5_HUMAN pepnet swissprot:ASIC5_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ASIC5_HUMAN pepstats swissprot:ASIC5_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ASIC5_HUMAN pepwheel swissprot:ASIC5_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ASIC5_HUMAN pepwindow swissprot:ASIC5_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ASIC5_HUMAN sigcleave swissprot:ASIC5_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ASIC5_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS ATP7B_HUMAN Event=Alternative splicing; Named isoforms=4; Name=1; Synonyms=A; IsoId=P35670-1; Sequence=Displayed; Name=2; Synonyms=B; IsoId=P35670-2; Sequence=VSP_000426, VSP_000427; Name=3; IsoId=P35670-3; Sequence=VSP_016559; Name=4; IsoId=P35670-4; Sequence=VSP_016560; Note=No experimental confirmation available.; # AltName ATP7B_HUMAN Copper pump 2 # AltName ATP7B_HUMAN Wilson disease-associated protein # AltName ATP7B_HUMAN Wilson disease-associated protein # BRENDA 3.6.3 2681 # BioGrid 107022 17 # CATALYTIC ACTIVITY ATP + H(2)O + Cu(+)(Side 1) = ADP + phosphate + Cu(+)(Side 2). {ECO:0000269|PubMed 22240481}. # CCDS CCDS41892 -. [P35670-1] # CCDS CCDS45049 -. [P35670-2] # CCDS CCDS58293 -. [P35670-3] # CDD cd00371 HMA; 6 # DISEASE ATP7B_HUMAN Wilson disease (WD) [MIM 277900] An autosomal recessive disorder of copper metabolism in which copper cannot be incorporated into ceruloplasmin in liver, and cannot be excreted from the liver into the bile. Copper accumulates in the liver and subsequently in the brain and kidney. The disease is characterized by neurologic manifestations and signs of cirrhosis. {ECO 0000269|PubMed 10051024, ECO 0000269|PubMed 10194254, ECO 0000269|PubMed 10447265, ECO 0000269|PubMed 10453196, ECO 0000269|PubMed 10502776, ECO 0000269|PubMed 10502777, ECO 0000269|PubMed 10544227, ECO 0000269|PubMed 10721669, ECO 0000269|PubMed 10790207, ECO 0000269|PubMed 11043508, ECO 0000269|PubMed 11093740, ECO 0000269|PubMed 11180609, ECO 0000269|PubMed 11216666, ECO 0000269|PubMed 11231950, ECO 0000269|PubMed 11243728, ECO 0000269|PubMed 11405812, ECO 0000269|PubMed 11690702, ECO 0000269|PubMed 11954751, ECO 0000269|PubMed 12325021, ECO 0000269|PubMed 12376745, ECO 0000269|PubMed 12544487, ECO 0000269|PubMed 14639035, ECO 0000269|PubMed 14966923, ECO 0000269|PubMed 14986826, ECO 0000269|PubMed 15024742, ECO 0000269|PubMed 15557537, ECO 0000269|PubMed 15811015, ECO 0000269|PubMed 15845031, ECO 0000269|PubMed 15952988, ECO 0000269|PubMed 15967699, ECO 0000269|PubMed 16088907, ECO 0000269|PubMed 16207219, ECO 0000269|PubMed 16283883, ECO 0000269|PubMed 16649058, ECO 0000269|PubMed 17718866, ECO 0000269|PubMed 17823867, ECO 0000269|PubMed 17919502, ECO 0000269|PubMed 17949296, ECO 0000269|PubMed 18373411, ECO 0000269|PubMed 21398519, ECO 0000269|PubMed 21454443, ECO 0000269|PubMed 21645214, ECO 0000269|PubMed 21682854, ECO 0000269|PubMed 22075048, ECO 0000269|PubMed 22240481, ECO 0000269|PubMed 22484412, ECO 0000269|PubMed 23235335, ECO 0000269|PubMed 23275100, ECO 0000269|PubMed 23333878, ECO 0000269|PubMed 23518715, ECO 0000269|PubMed 24706876, ECO 0000269|PubMed 25982861, ECO 0000269|PubMed 7626145, ECO 0000269|PubMed 8298641, ECO 0000269|PubMed 8533760, ECO 0000269|PubMed 8782057, ECO 0000269|PubMed 8931691, ECO 0000269|PubMed 8938442, ECO 0000269|PubMed 8980283, ECO 0000269|PubMed 9222767, ECO 0000269|PubMed 9311736, ECO 0000269|PubMed 9452121, ECO 0000269|PubMed 9482578, ECO 0000269|PubMed 9554743, ECO 0000269|PubMed 9671269, ECO 0000269|PubMed 9772425, ECO 0000269|PubMed 9829905, ECO 0000269|PubMed 9837819, ECO 0000269|PubMed 9887381}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DOMAIN ATP7B_HUMAN Each HMA domain can bind a copper ion, they are tightly packed and closely interact with each other. Wild-type ATP7B can usually be loaded with an average 5.5 copper atoms per molecule. {ECO 0000269|PubMed 20032459}. # DrugBank DB00515 Cisplatin # DrugBank DB00526 Oxaliplatin # DrugBank DB00958 Carboplatin # Ensembl ENST00000242839 ENSP00000242839; ENSG00000123191. [P35670-1] # Ensembl ENST00000344297 ENSP00000342559; ENSG00000123191. [P35670-2] # Ensembl ENST00000400366 ENSP00000383217; ENSG00000123191. [P35670-3] # ExpressionAtlas P35670 baseline and differential # FUNCTION ATP7B_HUMAN Involved in the export of copper out of the cells, such as the efflux of hepatic copper into the bile. {ECO 0000269|PubMed 18203200, ECO 0000269|PubMed 22240481, ECO 0000269|PubMed 24706876}. # GO_component GO:0000139 Golgi membrane; TAS:Reactome. # GO_component GO:0005739 mitochondrion; IEA:UniProtKB-SubCell. # GO_component GO:0005770 late endosome; IDA:UniProtKB. # GO_component GO:0005887 integral component of plasma membrane; TAS:UniProtKB. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0032588 trans-Golgi network membrane; IDA:UniProtKB. # GO_function GO:0004008 copper-exporting ATPase activity; NAS:UniProtKB. # GO_function GO:0005507 copper ion binding; IDA:UniProtKB. # GO_function GO:0005524 ATP binding; IDA:UniProtKB. # GO_function GO:0043682 copper-transporting ATPase activity; IMP:UniProtKB. # GO_process GO:0006825 copper ion transport; IMP:UniProtKB. # GO_process GO:0006878 cellular copper ion homeostasis; TAS:UniProtKB. # GO_process GO:0006882 cellular zinc ion homeostasis; IEA:Ensembl. # GO_process GO:0007595 lactation; IEA:Ensembl. # GO_process GO:0015677 copper ion import; IDA:UniProtKB. # GO_process GO:0015680 intracellular copper ion transport; IEA:Ensembl. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0046688 response to copper ion; IDA:UniProtKB. # GO_process GO:0051208 sequestering of calcium ion; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005739 mitochondrion # GOslim_component GO:0005768 endosome # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 2.70.150.10 -; 1. # Gene3D 3.40.1110.10 -; 2. # Gene3D 3.40.50.1000 -; 2. # Genevisible P35670 HS # HGNC HGNC:870 ATP7B # InterPro IPR001757 P_typ_ATPase # InterPro IPR006121 HMA_dom # InterPro IPR006122 HMA_Cu_ion-bd # InterPro IPR008250 ATPase_P-typ_transduc_dom_A # InterPro IPR017969 Heavy-metal-associated_CS # InterPro IPR018303 ATPase_P-typ_P_site # InterPro IPR023214 HAD-like_dom # InterPro IPR023299 ATPase_P-typ_cyto_domN # InterPro IPR027256 P-typ_ATPase_IB # KEGG_Brite ko01000 Enzymes # KEGG_Disease H00210 [Inherited metabolic disease; Nervous system disease; Liver disease] Hepatolenticular degeneration # MIM 277900 phenotype # MIM 606882 gene # Organism ATP7B_HUMAN Homo sapiens (Human) # Orphanet 905 Wilson disease # PDB 2ARF NMR; -; A=1032-1196 # PDB 2EW9 NMR; -; A=486-633 # PDB 2KOY NMR; -; A=1036-1196 # PDB 2LQB NMR; -; A=141-212 # PDB 2N7Y NMR; -; A=56-127 # PDB 2ROP NMR; -; A=238-439 # PIR I78536 I78536 # PIR I78537 I78537 # PIR S78555 S78555 # PROSITE PS00154 ATPASE_E1_E2 # PROSITE PS01047 HMA_1; 6 # PROSITE PS50846 HMA_2; 6 # PTM ATP7B_HUMAN Isoform 1 may be proteolytically cleaved at the N-terminus to produce the WND/140 kDa form. # Pfam PF00122 E1-E2_ATPase # Pfam PF00403 HMA; 6 # Proteomes UP000005640 Chromosome 13 # Reactome R-HSA-936837 Ion transport by P-type ATPases # RecName ATP7B_HUMAN Copper-transporting ATPase 2 # RecName WND/140 kDa {ECO:0000303|PubMed 9600907} # RefSeq NP_000044 NM_000053.3. [P35670-1] # RefSeq NP_001230111 NM_001243182.1. [P35670-3] # RefSeq NP_001317507 NM_001330578.1 # RefSeq NP_001317508 NM_001330579.1 # RefSeq XP_005266487 XM_005266430.4. [P35670-1] # SEQUENCE CAUTION Sequence=AAA16173.1; Type=Frameshift; Positions=830; Evidence={ECO:0000305}; Sequence=AAA79211.1; Type=Frameshift; Positions=456; Evidence={ECO 0000305}; Sequence=AAA79212.1; Type=Frameshift; Positions=456; Evidence={ECO:0000305}; # SIMILARITY Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IB subfamily. {ECO 0000305}. # SIMILARITY Contains 6 HMA domains. {ECO:0000255|PROSITE- ProRule PRU00280}. # SUBCELLULAR LOCATION ATP7B_HUMAN Golgi apparatus, trans-Golgi network membrane {ECO 0000269|PubMed 17919502, ECO 0000269|PubMed 22240481, ECO 0000269|PubMed 24706876}; Multi- pass membrane protein {ECO 0000255}. Late endosome {ECO 0000269|PubMed 11231950, ECO 0000269|PubMed 15681833}. Note=Predominantly found in the trans-Golgi network (TGN). Localized in the trans-Golgi network under low copper conditions, redistributes to cytoplasmic vesicles when cells are exposed to elevated copper levels, and then recycles back to the trans-Golgi network when copper is removed (PubMed 10942420). Not redistributed to the plasma membrane in response to elevated copper levels. {ECO 0000269|PubMed 10942420, ECO 0000269|PubMed 22240481, ECO 0000269|PubMed 24706876, ECO 0000269|PubMed 9307043}. # SUBCELLULAR LOCATION ATP7B_HUMAN Isoform 1 Golgi apparatus membrane {ECO 0000269|PubMed 9307043}; Multi-pass membrane protein {ECO 0000269|PubMed 9307043}. # SUBCELLULAR LOCATION ATP7B_HUMAN Isoform 2 Cytoplasm {ECO 0000269|PubMed 9307043}. # SUBCELLULAR LOCATION ATP7B_HUMAN WND/140 kDa Mitochondrion {ECO 0000269|PubMed 9600907}. # SUBUNIT ATP7B_HUMAN Monomer. Interacts with COMMD1/MURR1 (PubMed 12968035, PubMed 17919502). Interacts with DCTN4, in a copper-dependent manner (PubMed 16554302). Interacts with ATOX1 (PubMed 18558714). Interacts (via C-terminus) with ZBTB16/PLZF (PubMed 16676348). {ECO 0000269|PubMed 12968035, ECO 0000269|PubMed 16554302, ECO 0000269|PubMed 16676348, ECO 0000269|PubMed 17919502, ECO 0000269|PubMed 18558714}. # SUPFAM SSF55008 SSF55008; 6 # SUPFAM SSF56784 SSF56784; 2 # TCDB 3.A.3.5 the p-type atpase (p-atpase) superfamily # TIGRFAMs TIGR00003 TIGR00003; 6 # TIGRFAMs TIGR01494 ATPase_P-type; 2 # TIGRFAMs TIGR01525 ATPase-IB_hvy # TISSUE SPECIFICITY ATP7B_HUMAN Most abundant in liver and kidney and also found in brain. Isoform 2 is expressed in brain but not in liver. The cleaved form WND/140 kDa is found in liver cell lines and other tissues. # UCSC uc001vfw human. [P35670-1] # WEB RESOURCE ATP7B_HUMAN Name=Wilson Disease Mutation Database; URL="http //www.medicalgenetics.med.ualberta.ca/wilson/index.php"; # eggNOG COG2217 LUCA # eggNOG KOG0207 Eukaryota BLAST swissprot:ATP7B_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ATP7B_HUMAN BioCyc ZFISH:HS04640-MONOMER http://biocyc.org/getid?id=ZFISH:HS04640-MONOMER COG COG2217 http://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=COG2217 COXPRESdb 540 http://coxpresdb.jp/data/gene/540.shtml CleanEx HS_ATP7B http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ATP7B DOI 10.1001/archneur.58.6.971 http://dx.doi.org/10.1001/archneur.58.6.971 DOI 10.1002/(SICI)1098-1004(1997)10:1<84::AID-HUMU14>3.3.CO http://dx.doi.org/10.1002/(SICI)1098-1004(1997)10:1<84::AID-HUMU14>3.3.CO DOI 10.1002/(SICI)1098-1004(1998)11:2<145::AID-HUMU7>3.0.CO http://dx.doi.org/10.1002/(SICI)1098-1004(1998)11:2<145::AID-HUMU7>3.0.CO DOI 10.1002/(SICI)1098-1004(1998)11:4<275::AID-HUMU4>3.0.CO http://dx.doi.org/10.1002/(SICI)1098-1004(1998)11:4<275::AID-HUMU4>3.0.CO DOI 10.1002/(SICI)1098-1004(1998)12:2<89::AID-HUMU3>3.0.CO http://dx.doi.org/10.1002/(SICI)1098-1004(1998)12:2<89::AID-HUMU3>3.0.CO DOI 10.1002/(SICI)1098-1004(1998)12:6<370::AID-HUMU2>3.0.CO http://dx.doi.org/10.1002/(SICI)1098-1004(1998)12:6<370::AID-HUMU2>3.0.CO DOI 10.1002/(SICI)1098-1004(1999)14:1<88::AID-HUMU15>3.0.CO http://dx.doi.org/10.1002/(SICI)1098-1004(1999)14:1<88::AID-HUMU15>3.0.CO DOI 10.1002/(SICI)1098-1004(199910)14:4<294::AID-HUMU4>3.0.CO http://dx.doi.org/10.1002/(SICI)1098-1004(199910)14:4<294::AID-HUMU4>3.0.CO DOI 10.1002/(SICI)1098-1004(199910)14:4<304::AID-HUMU5>3.0.CO http://dx.doi.org/10.1002/(SICI)1098-1004(199910)14:4<304::AID-HUMU5>3.0.CO DOI 10.1002/(SICI)1098-1004(200005)15:5<454::AID-HUMU7>3.3.CO http://dx.doi.org/10.1002/(SICI)1098-1004(200005)15:5<454::AID-HUMU7>3.3.CO DOI 10.1002/1098-1004(200102)17:2<156::AID-HUMU18>3.0.CO 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http://dx.doi.org/10.3748/wjg.v10.i4.590 DOI 10.4254/wjh.v5.i11.649 http://dx.doi.org/10.4254/wjh.v5.i11.649 DrugBank DB00515 http://www.drugbank.ca/drugs/DB00515 DrugBank DB00526 http://www.drugbank.ca/drugs/DB00526 DrugBank DB00958 http://www.drugbank.ca/drugs/DB00958 EC_number EC:3.6.3.54 {ECO:0000269|PubMed:22240481} http://www.genome.jp/dbget-bin/www_bget?EC:3.6.3.54 {ECO:0000269|PubMed:22240481} EMBL AB209461 http://www.ebi.ac.uk/ena/data/view/AB209461 EMBL AF034838 http://www.ebi.ac.uk/ena/data/view/AF034838 EMBL AL138821 http://www.ebi.ac.uk/ena/data/view/AL138821 EMBL AL138821 http://www.ebi.ac.uk/ena/data/view/AL138821 EMBL AL138821 http://www.ebi.ac.uk/ena/data/view/AL138821 EMBL AL139082 http://www.ebi.ac.uk/ena/data/view/AL139082 EMBL AL139082 http://www.ebi.ac.uk/ena/data/view/AL139082 EMBL AL139082 http://www.ebi.ac.uk/ena/data/view/AL139082 EMBL AL162377 http://www.ebi.ac.uk/ena/data/view/AL162377 EMBL AL162377 http://www.ebi.ac.uk/ena/data/view/AL162377 EMBL AL162377 http://www.ebi.ac.uk/ena/data/view/AL162377 EMBL DQ015922 http://www.ebi.ac.uk/ena/data/view/DQ015922 EMBL L25442 http://www.ebi.ac.uk/ena/data/view/L25442 EMBL L25591 http://www.ebi.ac.uk/ena/data/view/L25591 EMBL L25591 http://www.ebi.ac.uk/ena/data/view/L25591 EMBL S77446 http://www.ebi.ac.uk/ena/data/view/S77446 EMBL S77447 http://www.ebi.ac.uk/ena/data/view/S77447 EMBL S77450 http://www.ebi.ac.uk/ena/data/view/S77450 EMBL U03464 http://www.ebi.ac.uk/ena/data/view/U03464 EMBL U11700 http://www.ebi.ac.uk/ena/data/view/U11700 ENZYME 3.6.3.54 {ECO:0000269|PubMed:22240481} http://enzyme.expasy.org/EC/3.6.3.54 {ECO:0000269|PubMed:22240481} Ensembl ENST00000242839 http://www.ensembl.org/id/ENST00000242839 Ensembl ENST00000344297 http://www.ensembl.org/id/ENST00000344297 Ensembl ENST00000400366 http://www.ensembl.org/id/ENST00000400366 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000139 GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005770 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005770 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0032588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032588 GO_function GO:0004008 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004008 GO_function GO:0005507 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005507 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0043682 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043682 GO_process GO:0006825 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006825 GO_process GO:0006878 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006878 GO_process GO:0006882 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006882 GO_process GO:0007595 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007595 GO_process GO:0015677 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015677 GO_process GO:0015680 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015680 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0046688 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046688 GO_process GO:0051208 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051208 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 2.70.150.10 http://www.cathdb.info/version/latest/superfamily/2.70.150.10 Gene3D 3.40.1110.10 http://www.cathdb.info/version/latest/superfamily/3.40.1110.10 Gene3D 3.40.50.1000 http://www.cathdb.info/version/latest/superfamily/3.40.50.1000 GeneCards ATP7B http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ATP7B GeneID 540 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=540 GeneTree ENSGT00530000063773 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000063773 HGNC HGNC:870 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:870 HOGENOM HOG000250397 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000250397&db=HOGENOM6 HOVERGEN HBG050616 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050616&db=HOVERGEN HPA HPA013187 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA013187 InParanoid P35670 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P35670 IntEnz 3.6.3.54 {ECO:0000269|PubMed:22240481} http://www.ebi.ac.uk/intenz/query?cmd=Search&q=3.6.3.54 {ECO:0000269|PubMed:22240481} InterPro IPR001757 http://www.ebi.ac.uk/interpro/entry/IPR001757 InterPro IPR006121 http://www.ebi.ac.uk/interpro/entry/IPR006121 InterPro IPR006122 http://www.ebi.ac.uk/interpro/entry/IPR006122 InterPro IPR008250 http://www.ebi.ac.uk/interpro/entry/IPR008250 InterPro IPR017969 http://www.ebi.ac.uk/interpro/entry/IPR017969 InterPro IPR018303 http://www.ebi.ac.uk/interpro/entry/IPR018303 InterPro IPR023214 http://www.ebi.ac.uk/interpro/entry/IPR023214 InterPro IPR023299 http://www.ebi.ac.uk/interpro/entry/IPR023299 InterPro IPR027256 http://www.ebi.ac.uk/interpro/entry/IPR027256 Jabion 540 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=540 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Disease H00210 http://www.genome.jp/dbget-bin/www_bget?H00210 KEGG_Gene hsa:540 http://www.genome.jp/dbget-bin/www_bget?hsa:540 KEGG_Orthology KO:K01533 http://www.genome.jp/dbget-bin/www_bget?KO:K01533 MIM 277900 http://www.ncbi.nlm.nih.gov/omim/277900 MIM 606882 http://www.ncbi.nlm.nih.gov/omim/606882 MINT MINT-105941 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-105941 OMA AVAPQKC http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=AVAPQKC Orphanet 905 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=905 OrthoDB EOG091G022E http://cegg.unige.ch/orthodb/results?searchtext=EOG091G022E PDB 2ARF http://www.ebi.ac.uk/pdbe-srv/view/entry/2ARF PDB 2EW9 http://www.ebi.ac.uk/pdbe-srv/view/entry/2EW9 PDB 2KOY http://www.ebi.ac.uk/pdbe-srv/view/entry/2KOY PDB 2LQB http://www.ebi.ac.uk/pdbe-srv/view/entry/2LQB PDB 2N7Y http://www.ebi.ac.uk/pdbe-srv/view/entry/2N7Y PDB 2ROP http://www.ebi.ac.uk/pdbe-srv/view/entry/2ROP PDBsum 2ARF http://www.ebi.ac.uk/pdbsum/2ARF PDBsum 2EW9 http://www.ebi.ac.uk/pdbsum/2EW9 PDBsum 2KOY http://www.ebi.ac.uk/pdbsum/2KOY PDBsum 2LQB http://www.ebi.ac.uk/pdbsum/2LQB PDBsum 2N7Y http://www.ebi.ac.uk/pdbsum/2N7Y PDBsum 2ROP http://www.ebi.ac.uk/pdbsum/2ROP PROSITE PS00154 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00154 PROSITE PS01047 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS01047 PROSITE PS50846 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50846 PSORT swissprot:ATP7B_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ATP7B_HUMAN PSORT-B swissprot:ATP7B_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ATP7B_HUMAN PSORT2 swissprot:ATP7B_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ATP7B_HUMAN Pfam PF00122 http://pfam.xfam.org/family/PF00122 Pfam PF00403 http://pfam.xfam.org/family/PF00403 PharmGKB PA73 http://www.pharmgkb.org/do/serve?objId=PA73&objCls=Gene Phobius swissprot:ATP7B_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ATP7B_HUMAN PhylomeDB P35670 http://phylomedb.org/?seqid=P35670 ProteinModelPortal P35670 http://www.proteinmodelportal.org/query/uniprot/P35670 PubMed 10051024 http://www.ncbi.nlm.nih.gov/pubmed/10051024 PubMed 10194254 http://www.ncbi.nlm.nih.gov/pubmed/10194254 PubMed 10334941 http://www.ncbi.nlm.nih.gov/pubmed/10334941 PubMed 10447265 http://www.ncbi.nlm.nih.gov/pubmed/10447265 PubMed 10453196 http://www.ncbi.nlm.nih.gov/pubmed/10453196 PubMed 10502776 http://www.ncbi.nlm.nih.gov/pubmed/10502776 PubMed 10502777 http://www.ncbi.nlm.nih.gov/pubmed/10502777 PubMed 10544227 http://www.ncbi.nlm.nih.gov/pubmed/10544227 PubMed 10721669 http://www.ncbi.nlm.nih.gov/pubmed/10721669 PubMed 10790207 http://www.ncbi.nlm.nih.gov/pubmed/10790207 PubMed 10942420 http://www.ncbi.nlm.nih.gov/pubmed/10942420 PubMed 11043508 http://www.ncbi.nlm.nih.gov/pubmed/11043508 PubMed 11093740 http://www.ncbi.nlm.nih.gov/pubmed/11093740 PubMed 11180609 http://www.ncbi.nlm.nih.gov/pubmed/11180609 PubMed 11216666 http://www.ncbi.nlm.nih.gov/pubmed/11216666 PubMed 11231950 http://www.ncbi.nlm.nih.gov/pubmed/11231950 PubMed 11243728 http://www.ncbi.nlm.nih.gov/pubmed/11243728 PubMed 11405812 http://www.ncbi.nlm.nih.gov/pubmed/11405812 PubMed 11690702 http://www.ncbi.nlm.nih.gov/pubmed/11690702 PubMed 11954751 http://www.ncbi.nlm.nih.gov/pubmed/11954751 PubMed 12325021 http://www.ncbi.nlm.nih.gov/pubmed/12325021 PubMed 12376745 http://www.ncbi.nlm.nih.gov/pubmed/12376745 PubMed 12544487 http://www.ncbi.nlm.nih.gov/pubmed/12544487 PubMed 12551905 http://www.ncbi.nlm.nih.gov/pubmed/12551905 PubMed 12968035 http://www.ncbi.nlm.nih.gov/pubmed/12968035 PubMed 14639035 http://www.ncbi.nlm.nih.gov/pubmed/14639035 PubMed 14966923 http://www.ncbi.nlm.nih.gov/pubmed/14966923 PubMed 14986826 http://www.ncbi.nlm.nih.gov/pubmed/14986826 PubMed 15024742 http://www.ncbi.nlm.nih.gov/pubmed/15024742 PubMed 15057823 http://www.ncbi.nlm.nih.gov/pubmed/15057823 PubMed 15557537 http://www.ncbi.nlm.nih.gov/pubmed/15557537 PubMed 15681833 http://www.ncbi.nlm.nih.gov/pubmed/15681833 PubMed 15811015 http://www.ncbi.nlm.nih.gov/pubmed/15811015 PubMed 15845031 http://www.ncbi.nlm.nih.gov/pubmed/15845031 PubMed 15952988 http://www.ncbi.nlm.nih.gov/pubmed/15952988 PubMed 15967699 http://www.ncbi.nlm.nih.gov/pubmed/15967699 PubMed 16088907 http://www.ncbi.nlm.nih.gov/pubmed/16088907 PubMed 16207219 http://www.ncbi.nlm.nih.gov/pubmed/16207219 PubMed 16283883 http://www.ncbi.nlm.nih.gov/pubmed/16283883 PubMed 16554302 http://www.ncbi.nlm.nih.gov/pubmed/16554302 PubMed 16649058 http://www.ncbi.nlm.nih.gov/pubmed/16649058 PubMed 16676348 http://www.ncbi.nlm.nih.gov/pubmed/16676348 PubMed 17718866 http://www.ncbi.nlm.nih.gov/pubmed/17718866 PubMed 17823867 http://www.ncbi.nlm.nih.gov/pubmed/17823867 PubMed 17919502 http://www.ncbi.nlm.nih.gov/pubmed/17919502 PubMed 17949296 http://www.ncbi.nlm.nih.gov/pubmed/17949296 PubMed 18203200 http://www.ncbi.nlm.nih.gov/pubmed/18203200 PubMed 18373411 http://www.ncbi.nlm.nih.gov/pubmed/18373411 PubMed 18558714 http://www.ncbi.nlm.nih.gov/pubmed/18558714 PubMed 20032459 http://www.ncbi.nlm.nih.gov/pubmed/20032459 PubMed 21398519 http://www.ncbi.nlm.nih.gov/pubmed/21398519 PubMed 21406592 http://www.ncbi.nlm.nih.gov/pubmed/21406592 PubMed 21454443 http://www.ncbi.nlm.nih.gov/pubmed/21454443 PubMed 21645214 http://www.ncbi.nlm.nih.gov/pubmed/21645214 PubMed 21682854 http://www.ncbi.nlm.nih.gov/pubmed/21682854 PubMed 22075048 http://www.ncbi.nlm.nih.gov/pubmed/22075048 PubMed 22240481 http://www.ncbi.nlm.nih.gov/pubmed/22240481 PubMed 22484412 http://www.ncbi.nlm.nih.gov/pubmed/22484412 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 23235335 http://www.ncbi.nlm.nih.gov/pubmed/23235335 PubMed 23275100 http://www.ncbi.nlm.nih.gov/pubmed/23275100 PubMed 23333878 http://www.ncbi.nlm.nih.gov/pubmed/23333878 PubMed 23518715 http://www.ncbi.nlm.nih.gov/pubmed/23518715 PubMed 24303094 http://www.ncbi.nlm.nih.gov/pubmed/24303094 PubMed 24706876 http://www.ncbi.nlm.nih.gov/pubmed/24706876 PubMed 25982861 http://www.ncbi.nlm.nih.gov/pubmed/25982861 PubMed 7626145 http://www.ncbi.nlm.nih.gov/pubmed/7626145 PubMed 7833924 http://www.ncbi.nlm.nih.gov/pubmed/7833924 PubMed 8250934 http://www.ncbi.nlm.nih.gov/pubmed/8250934 PubMed 8298639 http://www.ncbi.nlm.nih.gov/pubmed/8298639 PubMed 8298641 http://www.ncbi.nlm.nih.gov/pubmed/8298641 PubMed 8533760 http://www.ncbi.nlm.nih.gov/pubmed/8533760 PubMed 8782057 http://www.ncbi.nlm.nih.gov/pubmed/8782057 PubMed 8931691 http://www.ncbi.nlm.nih.gov/pubmed/8931691 PubMed 8938442 http://www.ncbi.nlm.nih.gov/pubmed/8938442 PubMed 8980283 http://www.ncbi.nlm.nih.gov/pubmed/8980283 PubMed 9222767 http://www.ncbi.nlm.nih.gov/pubmed/9222767 PubMed 9307043 http://www.ncbi.nlm.nih.gov/pubmed/9307043 PubMed 9311736 http://www.ncbi.nlm.nih.gov/pubmed/9311736 PubMed 9452121 http://www.ncbi.nlm.nih.gov/pubmed/9452121 PubMed 9482578 http://www.ncbi.nlm.nih.gov/pubmed/9482578 PubMed 9554743 http://www.ncbi.nlm.nih.gov/pubmed/9554743 PubMed 9600907 http://www.ncbi.nlm.nih.gov/pubmed/9600907 PubMed 9671269 http://www.ncbi.nlm.nih.gov/pubmed/9671269 PubMed 9772425 http://www.ncbi.nlm.nih.gov/pubmed/9772425 PubMed 9829905 http://www.ncbi.nlm.nih.gov/pubmed/9829905 PubMed 9837819 http://www.ncbi.nlm.nih.gov/pubmed/9837819 PubMed 9887381 http://www.ncbi.nlm.nih.gov/pubmed/9887381 Reactome R-HSA-936837 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-936837 RefSeq NP_000044 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000044 RefSeq NP_001230111 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001230111 RefSeq NP_001317507 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001317507 RefSeq NP_001317508 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001317508 RefSeq XP_005266487 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005266487 SMR P35670 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P35670 STRING 9606.ENSP00000242839 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000242839&targetmode=cogs STRING COG2217 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=COG2217&targetmode=cogs SUPFAM SSF55008 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF55008 SUPFAM SSF56784 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF56784 TCDB 3.A.3.5 http://www.tcdb.org/search/result.php?tc=3.A.3.5 TIGRFAMs TIGR00003 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00003 TIGRFAMs TIGR01494 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01494 TIGRFAMs TIGR01525 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01525 UCSC uc001vfw http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001vfw&org=rat UniGene Hs.492280 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.492280 UniProtKB ATP7B_HUMAN http://www.uniprot.org/uniprot/ATP7B_HUMAN UniProtKB-AC P35670 http://www.uniprot.org/uniprot/P35670 charge swissprot:ATP7B_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ATP7B_HUMAN eggNOG COG2217 http://eggnogapi.embl.de/nog_data/html/tree/COG2217 eggNOG KOG0207 http://eggnogapi.embl.de/nog_data/html/tree/KOG0207 epestfind swissprot:ATP7B_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ATP7B_HUMAN garnier swissprot:ATP7B_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ATP7B_HUMAN helixturnhelix swissprot:ATP7B_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ATP7B_HUMAN hmoment swissprot:ATP7B_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ATP7B_HUMAN iep swissprot:ATP7B_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ATP7B_HUMAN inforesidue swissprot:ATP7B_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ATP7B_HUMAN neXtProt NX_P35670 http://www.nextprot.org/db/entry/NX_P35670 octanol swissprot:ATP7B_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ATP7B_HUMAN pepcoil swissprot:ATP7B_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ATP7B_HUMAN pepdigest swissprot:ATP7B_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ATP7B_HUMAN pepinfo swissprot:ATP7B_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ATP7B_HUMAN pepnet swissprot:ATP7B_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ATP7B_HUMAN pepstats swissprot:ATP7B_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ATP7B_HUMAN pepwheel swissprot:ATP7B_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ATP7B_HUMAN pepwindow swissprot:ATP7B_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ATP7B_HUMAN sigcleave swissprot:ATP7B_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ATP7B_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS NMDZ1_HUMAN Event=Alternative splicing; Named isoforms=7; Name=3; Synonyms=Long, NR1-3; IsoId=Q05586-1; Sequence=Displayed; Name=1; Synonyms=Short, NR1-1; IsoId=Q05586-2; Sequence=VSP_000137, VSP_000138; Name=2; Synonyms=Medium, NR1-2; IsoId=Q05586-3; Sequence=VSP_000139; Name=4; IsoId=Q05586-4; Sequence=VSP_011778, VSP_011779; Name=5; IsoId=Q05586-5; Sequence=VSP_011777; Name=6; IsoId=Q05586-6; Sequence=VSP_011777, VSP_011778, VSP_011779; Name=7; IsoId=Q05586-7; Sequence=VSP_011777, VSP_045464; # AltName NMDZ1_HUMAN Glutamate [NMDA] receptor subunit zeta-1 # AltName NMDZ1_HUMAN N-methyl-D-aspartate receptor subunit NR1 # BioGrid 109159 11 # CCDS CCDS43910 -. [Q05586-2] # CCDS CCDS55354 -. [Q05586-6] # CCDS CCDS55355 -. [Q05586-7] # CCDS CCDS7031 -. [Q05586-1] # CCDS CCDS7032 -. [Q05586-3] # ChiTaRS GRIN1 human # DISEASE NMDZ1_HUMAN Mental retardation, autosomal dominant 8 (MRD8) [MIM 614254] A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO 0000269|PubMed 21376300}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DrugBank DB00289 Atomoxetine # DrugBank DB00312 Pentobarbital # DrugBank DB00418 Secobarbital # DrugBank DB00454 Pethidine # DrugBank DB00659 Acamprosate # DrugBank DB00996 Gabapentin # DrugBank DB01043 Memantine # DrugBank DB01173 Orphenadrine # DrugBank DB01174 Phenobarbital # DrugBank DB04896 Milnacipran # DrugBank DB06151 Acetylcysteine # DrugBank DB06738 Ketobemidone # DrugBank DB08954 Ifenprodil # Ensembl ENST00000371546 ENSP00000360601; ENSG00000176884. [Q05586-5] # Ensembl ENST00000371550 ENSP00000360605; ENSG00000176884. [Q05586-3] # Ensembl ENST00000371553 ENSP00000360608; ENSG00000176884. [Q05586-6] # Ensembl ENST00000371559 ENSP00000360614; ENSG00000176884. [Q05586-2] # Ensembl ENST00000371560 ENSP00000360615; ENSG00000176884. [Q05586-7] # Ensembl ENST00000371561 ENSP00000360616; ENSG00000176884. [Q05586-1] # ExpressionAtlas Q05586 baseline and differential # FUNCTION NMDZ1_HUMAN NMDA receptor subtype of glutamate-gated ion channels with high calcium permeability and voltage-dependent sensitivity to magnesium. Mediated by glycine. This protein plays a key role in synaptic plasticity, synaptogenesis, excitotoxicity, memory acquisition and learning. It mediates neuronal functions in glutamate neurotransmission. Is involved in the cell surface targeting of NMDA receptors (By similarity). {ECO 0000250}. # GO_component GO:0005783 endoplasmic reticulum; IEA:Ensembl. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IDA:UniProtKB. # GO_component GO:0008021 synaptic vesicle; ISS:UniProtKB. # GO_component GO:0009986 cell surface; ISS:BHF-UCL. # GO_component GO:0014069 postsynaptic density; ISS:UniProtKB. # GO_component GO:0017146 NMDA selective glutamate receptor complex; IDA:UniProtKB. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0030425 dendrite; IDA:UniProtKB. # GO_component GO:0043005 neuron projection; ISS:UniProtKB. # GO_component GO:0043083 synaptic cleft; ISS:BHF-UCL. # GO_component GO:0043195 terminal bouton; ISS:BHF-UCL. # GO_component GO:0043197 dendritic spine; ISS:BHF-UCL. # GO_component GO:0045202 synapse; ISS:UniProtKB. # GO_component GO:0045211 postsynaptic membrane; ISS:UniProtKB. # GO_component GO:0060076 excitatory synapse; ISS:BHF-UCL. # GO_function GO:0004972 NMDA glutamate receptor activity; IEA:Ensembl. # GO_function GO:0005088 Ras guanyl-nucleotide exchange factor activity; TAS:Reactome. # GO_function GO:0005234 extracellular-glutamate-gated ion channel activity; IEA:InterPro. # GO_function GO:0005262 calcium channel activity; IEA:Ensembl. # GO_function GO:0005509 calcium ion binding; ISS:UniProtKB. # GO_function GO:0005516 calmodulin binding; ISS:UniProtKB. # GO_function GO:0016594 glycine binding; IDA:UniProtKB. # GO_function GO:0016595 glutamate binding; IDA:UniProtKB. # GO_function GO:0042165 neurotransmitter binding; ISS:BHF-UCL. # GO_process GO:0000165 MAPK cascade; TAS:Reactome. # GO_process GO:0001661 conditioned taste aversion; IEA:Ensembl. # GO_process GO:0001967 suckling behavior; IEA:Ensembl. # GO_process GO:0001975 response to amphetamine; IEA:Ensembl. # GO_process GO:0006812 cation transport; IDA:UniProtKB. # GO_process GO:0006874 cellular calcium ion homeostasis; IEA:Ensembl. # GO_process GO:0007268 chemical synaptic transmission; TAS:Reactome. # GO_process GO:0007585 respiratory gaseous exchange; IEA:Ensembl. # GO_process GO:0007616 long-term memory; IEA:Ensembl. # GO_process GO:0008344 adult locomotory behavior; IEA:Ensembl. # GO_process GO:0008355 olfactory learning; IEA:Ensembl. # GO_process GO:0008542 visual learning; ISS:UniProtKB. # GO_process GO:0018964 propylene metabolic process; ISS:BHF-UCL. # GO_process GO:0019233 sensory perception of pain; IEA:Ensembl. # GO_process GO:0021586 pons maturation; IEA:Ensembl. # GO_process GO:0021987 cerebral cortex development; IEA:Ensembl. # GO_process GO:0035176 social behavior; IEA:Ensembl. # GO_process GO:0035235 ionotropic glutamate receptor signaling pathway; ISS:UniProtKB. # GO_process GO:0035249 synaptic transmission, glutamatergic; IEA:Ensembl. # GO_process GO:0042391 regulation of membrane potential; IDA:UniProtKB. # GO_process GO:0043065 positive regulation of apoptotic process; IEA:Ensembl. # GO_process GO:0043278 response to morphine; IEA:Ensembl. # GO_process GO:0043524 negative regulation of neuron apoptotic process; IEA:Ensembl. # GO_process GO:0043576 regulation of respiratory gaseous exchange; IEA:Ensembl. # GO_process GO:0045471 response to ethanol; IDA:UniProtKB. # GO_process GO:0045944 positive regulation of transcription from RNA polymerase II promoter; ISS:UniProtKB. # GO_process GO:0048013 ephrin receptor signaling pathway; TAS:Reactome. # GO_process GO:0048169 regulation of long-term neuronal synaptic plasticity; IEA:Ensembl. # GO_process GO:0048814 regulation of dendrite morphogenesis; IEA:Ensembl. # GO_process GO:0050770 regulation of axonogenesis; IEA:Ensembl. # GO_process GO:0051963 regulation of synapse assembly; IEA:Ensembl. # GO_process GO:0055074 calcium ion homeostasis; ISS:UniProtKB. # GO_process GO:0060079 excitatory postsynaptic potential; ISS:UniProtKB. # GO_process GO:0060134 prepulse inhibition; IEA:Ensembl. # GO_process GO:0060179 male mating behavior; IEA:Ensembl. # GO_process GO:2000463 positive regulation of excitatory postsynaptic potential; ISS:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005576 extracellular region # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0031410 cytoplasmic vesicle # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006464 cellular protein modification process # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # GOslim_process GO:0021700 developmental maturation # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0050877 neurological system process # Genevisible Q05586 HS # HGNC HGNC:4584 GRIN1 # INTERACTION NMDZ1_HUMAN Q62936 Dlg3 (xeno); NbExp=3; IntAct=EBI-8286218, EBI-349596; # IntAct Q05586 7 # InterPro IPR001320 Iontro_rcpt # InterPro IPR001508 Iono_rcpt_met # InterPro IPR001828 ANF_lig-bd_rcpt # InterPro IPR018882 CaM-bd_C0_NMDA_rcpt_NR1 # InterPro IPR019594 Glu/Gly-bd # InterPro IPR028082 Peripla_BP_I # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00773 [Congenital disorder; Mental retardation] Autosomal dominant mental retardation # KEGG_Pathway ko04020 Calcium signaling pathway # KEGG_Pathway ko04080 Neuroactive ligand-receptor interaction # KEGG_Pathway ko04713 Circadian entrainment # KEGG_Pathway ko04720 Long-term potentiation # KEGG_Pathway ko04724 Glutamatergic synapse # KEGG_Pathway ko05010 Alzheimer's disease # KEGG_Pathway ko05014 Amyotrophic lateral sclerosis (ALS) # KEGG_Pathway ko05016 Huntington's disease # KEGG_Pathway ko05030 Cocaine addiction # KEGG_Pathway ko05031 Amphetamine addiction # KEGG_Pathway ko05033 Nicotine addiction # KEGG_Pathway ko05034 Alcoholism # MIM 138249 gene # MIM 614254 phenotype # Organism NMDZ1_HUMAN Homo sapiens (Human) # Orphanet 178469 Autosomal dominant non-syndromic intellectual disability # PDB 2HQW X-ray; 1.90 A; B=875-898 # PDB 2NR1 NMR; -; A=599-621 # PDB 3BYA X-ray; 1.85 A; B=875-898 # PDB 5H8F X-ray; 1.81 A; B=394-544, B=663-800 # PDB 5H8H X-ray; 2.23 A; B=394-544, B=663-800 # PDB 5H8N X-ray; 2.50 A; B=394-544, B=663-800 # PDB 5H8Q X-ray; 1.90 A; B=394-544, B=663-800 # PDB 5I2K X-ray; 2.86 A; B=394-544, B=684-821 # PDB 5I2N X-ray; 2.12 A; B=394-544, B=684-821 # PDB 5KCJ X-ray; 2.09 A; B=394-544, B=663-800 # PDB 5KDT X-ray; 2.44 A; B=394-544, B=684-821 # PIR A46612 A46612 # PIR A47551 A47551 # PRINTS PR00177 NMDARECEPTOR # PTM NMDZ1_HUMAN NMDA is probably regulated by C-terminal phosphorylation of an isoform of NR1 by PKC. Dephosphorylated on Ser-897 probably by protein phosphatase 2A (PPP2CB). Its phosphorylated state is influenced by the formation of the NMDAR-PPP2CB complex and the NMDAR channel activity. {ECO 0000269|PubMed 8316301}. # Pfam PF00060 Lig_chan # Pfam PF01094 ANF_receptor # Pfam PF10562 CaM_bdg_C0 # Pfam PF10613 Lig_chan-Glu_bd # Proteomes UP000005640 Chromosome 9 # Reactome R-HSA-3928662 EPHB-mediated forward signaling # Reactome R-HSA-438066 Unblocking of NMDA receptor, glutamate binding and activation # Reactome R-HSA-442729 CREB phosphorylation through the activation of CaMKII # Reactome R-HSA-442982 Ras activation uopn Ca2+ infux through NMDA receptor # Reactome R-HSA-5673001 RAF/MAP kinase cascade # Reactome R-HSA-6794361 Interactions of neurexins and neuroligins at synapses # Reactome R-HSA-8849932 SALM protein interactions at the synapses # RecName NMDZ1_HUMAN Glutamate receptor ionotropic, NMDA 1 # RefSeq NP_000823 NM_000832.6. [Q05586-2] # RefSeq NP_001172019 NM_001185090.1. [Q05586-6] # RefSeq NP_001172020 NM_001185091.1. [Q05586-7] # RefSeq NP_015566 NM_007327.3. [Q05586-1] # RefSeq NP_067544 NM_021569.3. [Q05586-3] # RefSeq XP_005266128 XM_005266071.3. [Q05586-4] # RefSeq XP_005266130 XM_005266073.4. [Q05586-5] # SIMILARITY Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. NR1/GRIN1 subfamily. {ECO 0000305}. # SMART SM00079 PBPe # SMART SM00918 Lig_chan-Glu_bd # SUBCELLULAR LOCATION NMDZ1_HUMAN Cell membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. Cell junction, synapse, postsynaptic cell membrane {ECO 0000250}. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO 0000250}. Note=Enriched in postsynaptic plasma membrane and postsynaptic densities. {ECO 0000250}. # SUBUNIT Forms heteromeric channel of a zeta subunit (GRIN1), a epsilon subunit (GRIN2A, GRIN2B, GRIN2C or GRIN2D) and a third subunit (GRIN3A or GRIN3B); disulfide-linked. Found in a complex with GRIN2A or GRIN2B, GRIN3A or GRIN3B and PPP2CB. Interacts with DLG4 and MPDZ. Interacts with SNX27 (via PDZ domain); the interaction is required for recycling to the plasma membrane when endocytosed and prevent degradation in lysosomes (By similarity). Interacts with LRFN1 and LRFN2 (By similarity). Interacts with MYZAP. {ECO:0000250, ECO 0000269|PubMed:18849881}. # SUPFAM SSF53822 SSF53822 # TCDB 1.A.10.1 the glutamate-gated ion channel (gic) family of neurotransmitter receptors # UCSC uc004clk human. [Q05586-1] # WEB RESOURCE NMDZ1_HUMAN Name=Wikipedia; Note=NMDA receptor entry; URL="https //en.wikipedia.org/wiki/NMDA_receptor"; # eggNOG ENOG410XNUR LUCA # eggNOG KOG1053 Eukaryota BLAST swissprot:NMDZ1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:NMDZ1_HUMAN BioCyc ZFISH:ENSG00000176884-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000176884-MONOMER COXPRESdb 2902 http://coxpresdb.jp/data/gene/2902.shtml CleanEx HS_GRIN1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_GRIN1 DOI 10.1016/0378-1119(93)90309-Q http://dx.doi.org/10.1016/0378-1119(93)90309-Q DOI 10.1016/0378-1119(94)90089-2 http://dx.doi.org/10.1016/0378-1119(94)90089-2 DOI 10.1016/0378-1119(95)00044-7 http://dx.doi.org/10.1016/0378-1119(95)00044-7 DOI 10.1016/j.ajhg.2011.02.001 http://dx.doi.org/10.1016/j.ajhg.2011.02.001 DOI 10.1038/364070a0 http://dx.doi.org/10.1038/364070a0 DOI 10.1038/7610 http://dx.doi.org/10.1038/7610 DOI 10.1038/nature02465 http://dx.doi.org/10.1038/nature02465 DOI 10.1073/pnas.90.11.5057 http://dx.doi.org/10.1073/pnas.90.11.5057 DOI 10.1073/pnas.90.6.2174 http://dx.doi.org/10.1073/pnas.90.6.2174 DOI 10.1074/jbc.M313446200 http://dx.doi.org/10.1074/jbc.M313446200 DOI 10.1097/WNR.0b013e328317f05f http://dx.doi.org/10.1097/WNR.0b013e328317f05f DrugBank DB00289 http://www.drugbank.ca/drugs/DB00289 DrugBank DB00312 http://www.drugbank.ca/drugs/DB00312 DrugBank DB00418 http://www.drugbank.ca/drugs/DB00418 DrugBank DB00454 http://www.drugbank.ca/drugs/DB00454 DrugBank DB00659 http://www.drugbank.ca/drugs/DB00659 DrugBank DB00996 http://www.drugbank.ca/drugs/DB00996 DrugBank DB01043 http://www.drugbank.ca/drugs/DB01043 DrugBank DB01173 http://www.drugbank.ca/drugs/DB01173 DrugBank DB01174 http://www.drugbank.ca/drugs/DB01174 DrugBank DB04896 http://www.drugbank.ca/drugs/DB04896 DrugBank DB06151 http://www.drugbank.ca/drugs/DB06151 DrugBank DB06738 http://www.drugbank.ca/drugs/DB06738 DrugBank DB08954 http://www.drugbank.ca/drugs/DB08954 EMBL AF015730 http://www.ebi.ac.uk/ena/data/view/AF015730 EMBL AF015731 http://www.ebi.ac.uk/ena/data/view/AF015731 EMBL AL929554 http://www.ebi.ac.uk/ena/data/view/AL929554 EMBL AL929554 http://www.ebi.ac.uk/ena/data/view/AL929554 EMBL AL929554 http://www.ebi.ac.uk/ena/data/view/AL929554 EMBL AL929554 http://www.ebi.ac.uk/ena/data/view/AL929554 EMBL D13515 http://www.ebi.ac.uk/ena/data/view/D13515 EMBL L05666 http://www.ebi.ac.uk/ena/data/view/L05666 EMBL L13266 http://www.ebi.ac.uk/ena/data/view/L13266 EMBL L13267 http://www.ebi.ac.uk/ena/data/view/L13267 EMBL L13268 http://www.ebi.ac.uk/ena/data/view/L13268 EMBL S57708 http://www.ebi.ac.uk/ena/data/view/S57708 EMBL U08106 http://www.ebi.ac.uk/ena/data/view/U08106 EMBL U08107 http://www.ebi.ac.uk/ena/data/view/U08107 EMBL Z32772 http://www.ebi.ac.uk/ena/data/view/Z32772 EMBL Z32773 http://www.ebi.ac.uk/ena/data/view/Z32773 EMBL Z32774 http://www.ebi.ac.uk/ena/data/view/Z32774 Ensembl ENST00000371546 http://www.ensembl.org/id/ENST00000371546 Ensembl ENST00000371550 http://www.ensembl.org/id/ENST00000371550 Ensembl ENST00000371553 http://www.ensembl.org/id/ENST00000371553 Ensembl ENST00000371559 http://www.ensembl.org/id/ENST00000371559 Ensembl ENST00000371560 http://www.ensembl.org/id/ENST00000371560 Ensembl ENST00000371561 http://www.ensembl.org/id/ENST00000371561 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0008021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008021 GO_component GO:0009986 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009986 GO_component GO:0014069 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014069 GO_component GO:0017146 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0017146 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0030425 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030425 GO_component GO:0043005 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043005 GO_component GO:0043083 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043083 GO_component GO:0043195 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043195 GO_component GO:0043197 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043197 GO_component GO:0045202 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045202 GO_component GO:0045211 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045211 GO_component GO:0060076 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060076 GO_function GO:0004972 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004972 GO_function GO:0005088 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005088 GO_function GO:0005234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005234 GO_function GO:0005262 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005262 GO_function GO:0005509 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005509 GO_function GO:0005516 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005516 GO_function GO:0016594 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016594 GO_function GO:0016595 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016595 GO_function GO:0042165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042165 GO_process GO:0000165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000165 GO_process GO:0001661 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001661 GO_process GO:0001967 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001967 GO_process GO:0001975 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001975 GO_process GO:0006812 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006812 GO_process GO:0006874 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006874 GO_process GO:0007268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007268 GO_process GO:0007585 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007585 GO_process GO:0007616 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007616 GO_process GO:0008344 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008344 GO_process GO:0008355 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008355 GO_process GO:0008542 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008542 GO_process GO:0018964 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0018964 GO_process GO:0019233 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019233 GO_process GO:0021586 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021586 GO_process GO:0021987 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021987 GO_process GO:0035176 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035176 GO_process GO:0035235 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035235 GO_process GO:0035249 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035249 GO_process GO:0042391 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042391 GO_process GO:0043065 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043065 GO_process GO:0043278 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043278 GO_process GO:0043524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043524 GO_process GO:0043576 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043576 GO_process GO:0045471 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045471 GO_process GO:0045944 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045944 GO_process GO:0048013 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048013 GO_process GO:0048169 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048169 GO_process GO:0048814 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048814 GO_process GO:0050770 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050770 GO_process GO:0051963 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051963 GO_process GO:0055074 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055074 GO_process GO:0060079 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060079 GO_process GO:0060134 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060134 GO_process GO:0060179 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060179 GO_process GO:2000463 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000463 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005576 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005576 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0031410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006464 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006464 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0021700 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021700 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GeneCards GRIN1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=GRIN1 GeneID 2902 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=2902 GeneTree ENSGT00760000119186 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119186 HGNC HGNC:4584 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:4584 HOGENOM HOG000231491 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231491&db=HOGENOM6 HOVERGEN HBG052638 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052638&db=HOVERGEN HPA CAB006831 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB006831 InParanoid Q05586 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q05586 IntAct Q05586 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q05586* InterPro IPR001320 http://www.ebi.ac.uk/interpro/entry/IPR001320 InterPro IPR001508 http://www.ebi.ac.uk/interpro/entry/IPR001508 InterPro IPR001828 http://www.ebi.ac.uk/interpro/entry/IPR001828 InterPro IPR018882 http://www.ebi.ac.uk/interpro/entry/IPR018882 InterPro IPR019594 http://www.ebi.ac.uk/interpro/entry/IPR019594 InterPro IPR028082 http://www.ebi.ac.uk/interpro/entry/IPR028082 Jabion 2902 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=2902 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00773 http://www.genome.jp/dbget-bin/www_bget?H00773 KEGG_Gene hsa:2902 http://www.genome.jp/dbget-bin/www_bget?hsa:2902 KEGG_Orthology KO:K05208 http://www.genome.jp/dbget-bin/www_bget?KO:K05208 KEGG_Pathway ko04020 http://www.genome.jp/kegg-bin/show_pathway?ko04020 KEGG_Pathway ko04080 http://www.genome.jp/kegg-bin/show_pathway?ko04080 KEGG_Pathway ko04713 http://www.genome.jp/kegg-bin/show_pathway?ko04713 KEGG_Pathway ko04720 http://www.genome.jp/kegg-bin/show_pathway?ko04720 KEGG_Pathway ko04724 http://www.genome.jp/kegg-bin/show_pathway?ko04724 KEGG_Pathway ko05010 http://www.genome.jp/kegg-bin/show_pathway?ko05010 KEGG_Pathway ko05014 http://www.genome.jp/kegg-bin/show_pathway?ko05014 KEGG_Pathway ko05016 http://www.genome.jp/kegg-bin/show_pathway?ko05016 KEGG_Pathway ko05030 http://www.genome.jp/kegg-bin/show_pathway?ko05030 KEGG_Pathway ko05031 http://www.genome.jp/kegg-bin/show_pathway?ko05031 KEGG_Pathway ko05033 http://www.genome.jp/kegg-bin/show_pathway?ko05033 KEGG_Pathway ko05034 http://www.genome.jp/kegg-bin/show_pathway?ko05034 MIM 138249 http://www.ncbi.nlm.nih.gov/omim/138249 MIM 614254 http://www.ncbi.nlm.nih.gov/omim/614254 MINT MINT-1900224 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1900224 OMA TMSDGTC http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=TMSDGTC Orphanet 178469 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=178469 OrthoDB EOG091G0M5H http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0M5H PDB 2HQW http://www.ebi.ac.uk/pdbe-srv/view/entry/2HQW PDB 2NR1 http://www.ebi.ac.uk/pdbe-srv/view/entry/2NR1 PDB 3BYA http://www.ebi.ac.uk/pdbe-srv/view/entry/3BYA PDB 5H8F http://www.ebi.ac.uk/pdbe-srv/view/entry/5H8F PDB 5H8H http://www.ebi.ac.uk/pdbe-srv/view/entry/5H8H PDB 5H8N http://www.ebi.ac.uk/pdbe-srv/view/entry/5H8N PDB 5H8Q http://www.ebi.ac.uk/pdbe-srv/view/entry/5H8Q PDB 5I2K http://www.ebi.ac.uk/pdbe-srv/view/entry/5I2K PDB 5I2N http://www.ebi.ac.uk/pdbe-srv/view/entry/5I2N PDB 5KCJ http://www.ebi.ac.uk/pdbe-srv/view/entry/5KCJ PDB 5KDT http://www.ebi.ac.uk/pdbe-srv/view/entry/5KDT PDBsum 2HQW http://www.ebi.ac.uk/pdbsum/2HQW PDBsum 2NR1 http://www.ebi.ac.uk/pdbsum/2NR1 PDBsum 3BYA http://www.ebi.ac.uk/pdbsum/3BYA PDBsum 5H8F http://www.ebi.ac.uk/pdbsum/5H8F PDBsum 5H8H http://www.ebi.ac.uk/pdbsum/5H8H PDBsum 5H8N http://www.ebi.ac.uk/pdbsum/5H8N PDBsum 5H8Q http://www.ebi.ac.uk/pdbsum/5H8Q PDBsum 5I2K http://www.ebi.ac.uk/pdbsum/5I2K PDBsum 5I2N http://www.ebi.ac.uk/pdbsum/5I2N PDBsum 5KCJ http://www.ebi.ac.uk/pdbsum/5KCJ PDBsum 5KDT http://www.ebi.ac.uk/pdbsum/5KDT PRINTS PR00177 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00177 PSORT swissprot:NMDZ1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:NMDZ1_HUMAN PSORT-B swissprot:NMDZ1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:NMDZ1_HUMAN PSORT2 swissprot:NMDZ1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:NMDZ1_HUMAN Pfam PF00060 http://pfam.xfam.org/family/PF00060 Pfam PF01094 http://pfam.xfam.org/family/PF01094 Pfam PF10562 http://pfam.xfam.org/family/PF10562 Pfam PF10613 http://pfam.xfam.org/family/PF10613 PharmGKB PA28978 http://www.pharmgkb.org/do/serve?objId=PA28978&objCls=Gene Phobius swissprot:NMDZ1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:NMDZ1_HUMAN PhylomeDB Q05586 http://phylomedb.org/?seqid=Q05586 ProteinModelPortal Q05586 http://www.proteinmodelportal.org/query/uniprot/Q05586 PubMed 10201407 http://www.ncbi.nlm.nih.gov/pubmed/10201407 PubMed 14732708 http://www.ncbi.nlm.nih.gov/pubmed/14732708 PubMed 15164053 http://www.ncbi.nlm.nih.gov/pubmed/15164053 PubMed 18849881 http://www.ncbi.nlm.nih.gov/pubmed/18849881 PubMed 21376300 http://www.ncbi.nlm.nih.gov/pubmed/21376300 PubMed 7622053 http://www.ncbi.nlm.nih.gov/pubmed/7622053 PubMed 7679115 http://www.ncbi.nlm.nih.gov/pubmed/7679115 PubMed 7681588 http://www.ncbi.nlm.nih.gov/pubmed/7681588 PubMed 7685113 http://www.ncbi.nlm.nih.gov/pubmed/7685113 PubMed 7926821 http://www.ncbi.nlm.nih.gov/pubmed/7926821 PubMed 8316301 http://www.ncbi.nlm.nih.gov/pubmed/8316301 PubMed 8406025 http://www.ncbi.nlm.nih.gov/pubmed/8406025 PubMed 9231706 http://www.ncbi.nlm.nih.gov/pubmed/9231706 Reactome R-HSA-3928662 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-3928662 Reactome R-HSA-438066 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-438066 Reactome R-HSA-442729 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-442729 Reactome R-HSA-442982 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-442982 Reactome R-HSA-5673001 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5673001 Reactome R-HSA-6794361 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6794361 Reactome R-HSA-8849932 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-8849932 RefSeq NP_000823 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000823 RefSeq NP_001172019 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001172019 RefSeq NP_001172020 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001172020 RefSeq NP_015566 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_015566 RefSeq NP_067544 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_067544 RefSeq XP_005266128 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005266128 RefSeq XP_005266130 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005266130 SMART SM00079 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00079 SMART SM00918 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00918 SMR Q05586 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q05586 STRING 9606.ENSP00000360608 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000360608&targetmode=cogs SUPFAM SSF53822 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF53822 TCDB 1.A.10.1 http://www.tcdb.org/search/result.php?tc=1.A.10.1 UCSC uc004clk http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc004clk&org=rat UniGene Hs.558334 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.558334 UniProtKB NMDZ1_HUMAN http://www.uniprot.org/uniprot/NMDZ1_HUMAN UniProtKB-AC Q05586 http://www.uniprot.org/uniprot/Q05586 charge swissprot:NMDZ1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:NMDZ1_HUMAN eggNOG ENOG410XNUR http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XNUR eggNOG KOG1053 http://eggnogapi.embl.de/nog_data/html/tree/KOG1053 epestfind swissprot:NMDZ1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:NMDZ1_HUMAN garnier swissprot:NMDZ1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:NMDZ1_HUMAN helixturnhelix swissprot:NMDZ1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:NMDZ1_HUMAN hmoment swissprot:NMDZ1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:NMDZ1_HUMAN iep swissprot:NMDZ1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:NMDZ1_HUMAN inforesidue swissprot:NMDZ1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:NMDZ1_HUMAN neXtProt NX_Q05586 http://www.nextprot.org/db/entry/NX_Q05586 octanol swissprot:NMDZ1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:NMDZ1_HUMAN pepcoil swissprot:NMDZ1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:NMDZ1_HUMAN pepdigest swissprot:NMDZ1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:NMDZ1_HUMAN pepinfo swissprot:NMDZ1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:NMDZ1_HUMAN pepnet swissprot:NMDZ1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:NMDZ1_HUMAN pepstats swissprot:NMDZ1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:NMDZ1_HUMAN pepwheel swissprot:NMDZ1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:NMDZ1_HUMAN pepwindow swissprot:NMDZ1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:NMDZ1_HUMAN sigcleave swissprot:NMDZ1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:NMDZ1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS MCU_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q8NE86-1; Sequence=Displayed; Name=2; IsoId=Q8NE86-2; Sequence=VSP_024263; Note=No experimental confirmation available.; Name=3; IsoId=Q8NE86-3; Sequence=VSP_041687; # AltName Coiled-coil domain-containing protein 109A {ECO 0000305} # BioGrid 124733 30 # CCDS CCDS59218 -. [Q8NE86-2] # CCDS CCDS59219 -. [Q8NE86-3] # CCDS CCDS7317 -. [Q8NE86-1] # ChiTaRS MCU human # DOMAIN MCU_HUMAN Forms a well-packed pentamer with an overall cylindrical shape. The inner core of the pentamer is formed with the second transmembrane region and the second coiled-coil region while the transmembrane regions pack into a five-helix bundle having a largely polar pore across the membrane, the coiled-coil outside the membrane forms a pentamer with a hydrophobic core. The inner core is wrapped by the first transmembrane region through contacts between the first and the second transmembrane regions. The second transmembrane is followed by the inner juxtamembrane region (IJMH) that orients at a wide angle relative to the second transmembrane. The two core domains are held together on the periphery by the outer juxtamembrane helix (OJMH). {ECO 0000250|UniProtKB Q21121}. # DOMAIN MCU_HUMAN The N-terminal MCU domain is required for efficient Ca(2+) uptake and for interaction with MCUR1. It is not required for targeting to the mitochondria, oligomerization, interaction with MICU1 and MICU2, or assembly of the uniplex complex. {ECO 0000269|PubMed 26341627}. # DOMAIN MCU_HUMAN The critical DXXE motif connecting the transmembrane regions forms a pentameric barrel that constitutes the mouth of the pore. Inside the barrel, two acidic residues are in position to form two carboxylate rings. In absence of SMDT1/EMRE regulator, the calcium ions cannot exit the channel, suggesting that SMDT1/EMRE-binding induces conformational rearrangements to allow calcium to exit. {ECO 0000250|UniProtKB Q21121}. # ENZYME REGULATION Inhibited by ruthenium red or its derivative Ru360. {ECO:0000269|PubMed 23755363}. # Ensembl ENST00000357157 ENSP00000349680; ENSG00000156026. [Q8NE86-2] # Ensembl ENST00000373053 ENSP00000362144; ENSG00000156026. [Q8NE86-1] # Ensembl ENST00000536019 ENSP00000440913; ENSG00000156026. [Q8NE86-3] # ExpressionAtlas Q8NE86 baseline and differential # FUNCTION MCU_HUMAN Mitochondrial inner membrane calcium uniporter that mediates calcium uptake into mitochondria (PubMed 21685888, PubMed 21685886, PubMed 23101630, PubMed 22904319, PubMed 23178883, PubMed 22829870, PubMed 22822213, PubMed 24332854, PubMed 23755363, PubMed 26341627). Constitutes the pore-forming and calcium-conducting subunit of the uniporter complex (uniplex) (PubMed 23755363). Activity is regulated by MICU1 and MICU2. At low Ca(2+) levels MCU activity is down- regulated by MICU1 and MICU2; at higher Ca(2+) levels MICU1 increases MCU activity (PubMed 24560927, PubMed 26903221). Mitochondrial calcium homeostasis plays key roles in cellular physiology and regulates cell bioenergetics, cytoplasmic calcium signals and activation of cell death pathways. Involved in buffering the amplitude of systolic calcium rises in cardiomyocytes (PubMed 22822213). While dispensable for baseline homeostatic cardiac function, acts as a key regulator of short- term mitochondrial calcium loading underlying a 'fight-or-flight' response during acute stress acts by mediating a rapid increase of mitochondrial calcium in pacemaker cells (PubMed 25603276). participates in mitochondrial permeability transition during ischemia-reperfusion injury (By similarity). Regulates glucose- dependent insulin secretion in pancreatic beta-cells by regulating mitochondrial calcium uptake (PubMed 22904319, PubMed 22829870). Mitochondrial calcium uptake in skeletal muscle cells is involved in muscle size in adults (By similarity). Regulates synaptic vesicle endocytosis kinetics in central nerve terminal (By similarity). Involved in antigen processing and presentation (By similarity). {ECO 0000250|UniProtKB Q3UMR5, ECO 0000269|PubMed 21685886, ECO 0000269|PubMed 21685888, ECO 0000269|PubMed 22822213, ECO 0000269|PubMed 22829870, ECO 0000269|PubMed 22904319, ECO 0000269|PubMed 23101630, ECO 0000269|PubMed 23178883, ECO 0000269|PubMed 23755363, ECO 0000269|PubMed 24332854, ECO 0000269|PubMed 24560927, ECO 0000269|PubMed 25603276, ECO 0000269|PubMed 26341627, ECO 0000269|PubMed 26903221}. # GO_component GO:0005739 mitochondrion; IDA:HPA. # GO_component GO:0005743 mitochondrial inner membrane; IDA:UniProtKB. # GO_component GO:0031305 integral component of mitochondrial inner membrane; IDA:UniProtKB. # GO_component GO:0034704 calcium channel complex; IDA:UniProtKB. # GO_component GO:1990246 uniplex complex; IDA:UniProtKB. # GO_function GO:0005262 calcium channel activity; IDA:UniProtKB. # GO_function GO:0015292 uniporter activity; IDA:UniProtKB. # GO_process GO:0006851 mitochondrial calcium ion transport; IDA:UniProtKB. # GO_process GO:0019722 calcium-mediated signaling; IDA:UniProtKB. # GO_process GO:0032024 positive regulation of insulin secretion; IMP:UniProtKB. # GO_process GO:0035786 protein complex oligomerization; IDA:UniProtKB. # GO_process GO:0036444 calcium ion transmembrane import into mitochondrion; IMP:UniProtKB. # GO_process GO:0042593 glucose homeostasis; IMP:UniProtKB. # GO_process GO:0051561 positive regulation of mitochondrial calcium ion concentration; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005739 mitochondrion # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Genevisible Q8NE86 HS # HGNC HGNC:23526 MCU # INDUCTION MCU_HUMAN MCU transcripts are down-regulated by microRNA miR-25 (PubMed 23246404). Down-regulation by miR-25 may protect cardiomyocytes against oxidative damage in cardiomyocytes (PubMed 25764156). {ECO 0000269|PubMed 23246404, ECO 0000269|PubMed 25764156}. # IntAct Q8NE86 11 # InterPro IPR006769 Coiled-coil-dom_prot_109_C # MIM 614197 gene # Organism MCU_HUMAN Homo sapiens (Human) # PDB 4XSJ X-ray; 1.80 A; A=75-165 # PDB 4XTB X-ray; 1.50 A; A=75-185 # PDB 5BZ6 X-ray; 2.75 A; A=75-165 # PDB 5KUE X-ray; 1.50 A; A=72-189 # PDB 5KUG X-ray; 1.90 A; A=72-189 # PDB 5KUI X-ray; 2.70 A; A=72-189 # PDB 5KUJ X-ray; 1.60 A; A=72-189 # PTM MCU_HUMAN Phosphorylation by CaMK2 in heart leads to increased MCU current (PubMed 23051746, PubMed 25254481). The regulation of MCU by CaMK2 is however subject to discussion another group was unable to reproduce these results (PubMed 25254480). Phosphorylated on tyrosines by PTK2B/PYK2, promoting oligomerization (PubMed 24800979). {ECO 0000269|PubMed 24800979, ECO 0000305|PubMed 23051746, ECO 0000305|PubMed 25254480, ECO 0000305|PubMed 25254481}. # Pfam PF04678 MCU # Proteomes UP000005640 Chromosome 10 # RecName Calcium uniporter protein, mitochondrial {ECO:0000303|PubMed 21685886} # RefSeq NP_001257608 NM_001270679.1. [Q8NE86-2] # RefSeq NP_001257609 NM_001270680.1. [Q8NE86-3] # RefSeq NP_612366 NM_138357.2. [Q8NE86-1] # SIMILARITY Belongs to the MCU (TC 1.A.77) family. {ECO 0000305}. # SUBCELLULAR LOCATION MCU_HUMAN Mitochondrion inner membrane {ECO 0000269|PubMed 21685886, ECO 0000269|PubMed 21685888, ECO 0000269|PubMed 23755363, ECO 0000269|PubMed 24231807, ECO 0000269|PubMed 27099988, ECO 0000305|PubMed 26341627}; Multi- pass membrane protein {ECO 0000269|PubMed 21685886, ECO 0000269|PubMed 21685888, ECO 0000269|PubMed 24231807}. # SUBUNIT MCU_HUMAN Component of the uniplex complex, composed of MCU, MCUB, MICU1, MICU2 and EMRE/SMDT1 (PubMed 24231807). Homooligomer (PubMed 21685886, PubMed 26341627). Forms a pentamer (By similarity). Heterooligomer with CCDC109B/MCUB; this inhibits channel activity (By similarity). Interacts with MICU1; MICU1 acts as an essential regulator for MCU (PubMed 21685886, PubMed 23101630, PubMed 23178883, PubMed 24332854, PubMed 26341627). Interacts with MCUR1 (PubMed 23178883, PubMed 26341627, PubMed 27184846, PubMed 26976564). Interacts with CCDC90B (PubMed 27184846). Interactions with MICU1 and MCUR1 are mutually exclusive (PubMed 23178883). Interacts with MICU2 (PubMed 26341627). Interacts with SLC25A23 (PubMed 24430870). {ECO 0000250|UniProtKB Q21121, ECO 0000250|UniProtKB Q3UMR5, ECO 0000269|PubMed 21685886, ECO 0000269|PubMed 23101630, ECO 0000269|PubMed 23178883, ECO 0000269|PubMed 24231807, ECO 0000269|PubMed 24332854, ECO 0000269|PubMed 24430870, ECO 0000269|PubMed 26341627, ECO 0000269|PubMed 26976564, ECO 0000269|PubMed 27184846}. # TopDownProteomics Q8NE86-3 -. [Q8NE86-3] # UCSC uc001jtc human. [Q8NE86-1] # eggNOG ENOG410Y3YU LUCA # eggNOG KOG2966 Eukaryota BLAST swissprot:MCU_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:MCU_HUMAN BioCyc ZFISH:ENSG00000156026-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000156026-MONOMER BioCyc ZFISH:MONOMER66-34413 http://biocyc.org/getid?id=ZFISH:MONOMER66-34413 COXPRESdb 90550 http://coxpresdb.jp/data/gene/90550.shtml CleanEx HS_CCDC109A http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CCDC109A DIP DIP-60468N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-60468N DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1016/j.bbamem.2016.02.022 http://dx.doi.org/10.1016/j.bbamem.2016.02.022 DOI 10.1016/j.cell.2012.10.011 http://dx.doi.org/10.1016/j.cell.2012.10.011 DOI 10.1016/j.celrep.2013.11.026 http://dx.doi.org/10.1016/j.celrep.2013.11.026 DOI 10.1016/j.celrep.2016.04.050 http://dx.doi.org/10.1016/j.celrep.2016.04.050 DOI 10.1016/j.cub.2012.11.026 http://dx.doi.org/10.1016/j.cub.2012.11.026 DOI 10.1016/j.molcel.2014.01.013 http://dx.doi.org/10.1016/j.molcel.2014.01.013 DOI 10.1038/nature02462 http://dx.doi.org/10.1038/nature02462 DOI 10.1038/nature10230 http://dx.doi.org/10.1038/nature10230 DOI 10.1038/nature10234 http://dx.doi.org/10.1038/nature10234 DOI 10.1038/nature11444 http://dx.doi.org/10.1038/nature11444 DOI 10.1038/nature13626 http://dx.doi.org/10.1038/nature13626 DOI 10.1038/nature13627 http://dx.doi.org/10.1038/nature13627 DOI 10.1038/nature17656 http://dx.doi.org/10.1038/nature17656 DOI 10.1038/ncb2622 http://dx.doi.org/10.1038/ncb2622 DOI 10.1038/ncomms7081 http://dx.doi.org/10.1038/ncomms7081 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.1210718109 http://dx.doi.org/10.1073/pnas.1210718109 DOI 10.1073/pnas.1602264113 http://dx.doi.org/10.1073/pnas.1602264113 DOI 10.1074/jbc.M112.392084 http://dx.doi.org/10.1074/jbc.M112.392084 DOI 10.1089/ars.2013.5394 http://dx.doi.org/10.1089/ars.2013.5394 DOI 10.1091/mbc.E13-08-0502 http://dx.doi.org/10.1091/mbc.E13-08-0502 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1214977 http://dx.doi.org/10.1126/science.1214977 DOI 10.1126/science.1242993 http://dx.doi.org/10.1126/science.1242993 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DOI 10.1371/journal.pone.0039722 http://dx.doi.org/10.1371/journal.pone.0039722 DOI 10.15252/embr.201540436 http://dx.doi.org/10.15252/embr.201540436 DOI 10.3390/ijms16035420 http://dx.doi.org/10.3390/ijms16035420 DOI 10.7554/eLife.00704 http://dx.doi.org/10.7554/eLife.00704 DOI 10.7554/eLife.15545 http://dx.doi.org/10.7554/eLife.15545 EMBL AC016542 http://www.ebi.ac.uk/ena/data/view/AC016542 EMBL AC069548 http://www.ebi.ac.uk/ena/data/view/AC069548 EMBL AK128016 http://www.ebi.ac.uk/ena/data/view/AK128016 EMBL AK315519 http://www.ebi.ac.uk/ena/data/view/AK315519 EMBL BC010682 http://www.ebi.ac.uk/ena/data/view/BC010682 EMBL BC034235 http://www.ebi.ac.uk/ena/data/view/BC034235 EMBL CH471083 http://www.ebi.ac.uk/ena/data/view/CH471083 Ensembl ENST00000357157 http://www.ensembl.org/id/ENST00000357157 Ensembl ENST00000373053 http://www.ensembl.org/id/ENST00000373053 Ensembl ENST00000536019 http://www.ensembl.org/id/ENST00000536019 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0031305 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031305 GO_component GO:0034704 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034704 GO_component GO:1990246 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1990246 GO_function GO:0005262 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005262 GO_function GO:0015292 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015292 GO_process GO:0006851 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006851 GO_process GO:0019722 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019722 GO_process GO:0032024 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032024 GO_process GO:0035786 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035786 GO_process GO:0036444 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0036444 GO_process GO:0042593 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042593 GO_process GO:0051561 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051561 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards MCU http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=MCU GeneID 90550 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=90550 GeneTree ENSGT00390000004496 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000004496 HGNC HGNC:23526 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:23526 HOGENOM HOG000008081 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000008081&db=HOGENOM6 HOVERGEN HBG060246 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG060246&db=HOVERGEN HPA HPA016480 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA016480 InParanoid Q8NE86 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8NE86 IntAct Q8NE86 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q8NE86* InterPro IPR006769 http://www.ebi.ac.uk/interpro/entry/IPR006769 Jabion 90550 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=90550 KEGG_Gene hsa:90550 http://www.genome.jp/dbget-bin/www_bget?hsa:90550 MIM 614197 http://www.ncbi.nlm.nih.gov/omim/614197 MINT MINT-8051705 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-8051705 OMA GAVYCST http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=GAVYCST OrthoDB EOG091G092C http://cegg.unige.ch/orthodb/results?searchtext=EOG091G092C PDB 4XSJ http://www.ebi.ac.uk/pdbe-srv/view/entry/4XSJ PDB 4XTB http://www.ebi.ac.uk/pdbe-srv/view/entry/4XTB PDB 5BZ6 http://www.ebi.ac.uk/pdbe-srv/view/entry/5BZ6 PDB 5KUE http://www.ebi.ac.uk/pdbe-srv/view/entry/5KUE PDB 5KUG http://www.ebi.ac.uk/pdbe-srv/view/entry/5KUG PDB 5KUI http://www.ebi.ac.uk/pdbe-srv/view/entry/5KUI PDB 5KUJ http://www.ebi.ac.uk/pdbe-srv/view/entry/5KUJ PDBsum 4XSJ http://www.ebi.ac.uk/pdbsum/4XSJ PDBsum 4XTB http://www.ebi.ac.uk/pdbsum/4XTB PDBsum 5BZ6 http://www.ebi.ac.uk/pdbsum/5BZ6 PDBsum 5KUE http://www.ebi.ac.uk/pdbsum/5KUE PDBsum 5KUG http://www.ebi.ac.uk/pdbsum/5KUG PDBsum 5KUI http://www.ebi.ac.uk/pdbsum/5KUI PDBsum 5KUJ http://www.ebi.ac.uk/pdbsum/5KUJ PSORT swissprot:MCU_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:MCU_HUMAN PSORT-B swissprot:MCU_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:MCU_HUMAN PSORT2 swissprot:MCU_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:MCU_HUMAN Pfam PF04678 http://pfam.xfam.org/family/PF04678 PharmGKB PA134888841 http://www.pharmgkb.org/do/serve?objId=PA134888841&objCls=Gene Phobius swissprot:MCU_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:MCU_HUMAN PhylomeDB Q8NE86 http://phylomedb.org/?seqid=Q8NE86 ProteinModelPortal Q8NE86 http://www.proteinmodelportal.org/query/uniprot/Q8NE86 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15164054 http://www.ncbi.nlm.nih.gov/pubmed/15164054 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 21685886 http://www.ncbi.nlm.nih.gov/pubmed/21685886 PubMed 21685888 http://www.ncbi.nlm.nih.gov/pubmed/21685888 PubMed 22605770 http://www.ncbi.nlm.nih.gov/pubmed/22605770 PubMed 22822213 http://www.ncbi.nlm.nih.gov/pubmed/22822213 PubMed 22829870 http://www.ncbi.nlm.nih.gov/pubmed/22829870 PubMed 22904319 http://www.ncbi.nlm.nih.gov/pubmed/22904319 PubMed 23051746 http://www.ncbi.nlm.nih.gov/pubmed/23051746 PubMed 23101630 http://www.ncbi.nlm.nih.gov/pubmed/23101630 PubMed 23178883 http://www.ncbi.nlm.nih.gov/pubmed/23178883 PubMed 23246404 http://www.ncbi.nlm.nih.gov/pubmed/23246404 PubMed 23755363 http://www.ncbi.nlm.nih.gov/pubmed/23755363 PubMed 24231807 http://www.ncbi.nlm.nih.gov/pubmed/24231807 PubMed 24332854 http://www.ncbi.nlm.nih.gov/pubmed/24332854 PubMed 24430870 http://www.ncbi.nlm.nih.gov/pubmed/24430870 PubMed 24560927 http://www.ncbi.nlm.nih.gov/pubmed/24560927 PubMed 24800979 http://www.ncbi.nlm.nih.gov/pubmed/24800979 PubMed 25254480 http://www.ncbi.nlm.nih.gov/pubmed/25254480 PubMed 25254481 http://www.ncbi.nlm.nih.gov/pubmed/25254481 PubMed 25603276 http://www.ncbi.nlm.nih.gov/pubmed/25603276 PubMed 25764156 http://www.ncbi.nlm.nih.gov/pubmed/25764156 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 26341627 http://www.ncbi.nlm.nih.gov/pubmed/26341627 PubMed 26903221 http://www.ncbi.nlm.nih.gov/pubmed/26903221 PubMed 26976564 http://www.ncbi.nlm.nih.gov/pubmed/26976564 PubMed 27099988 http://www.ncbi.nlm.nih.gov/pubmed/27099988 PubMed 27135929 http://www.ncbi.nlm.nih.gov/pubmed/27135929 PubMed 27184846 http://www.ncbi.nlm.nih.gov/pubmed/27184846 RefSeq NP_001257608 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001257608 RefSeq NP_001257609 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001257609 RefSeq NP_612366 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_612366 SMR Q8NE86 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q8NE86 STRING 9606.ENSP00000362144 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000362144&targetmode=cogs UCSC uc001jtc http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001jtc&org=rat UniGene Hs.591366 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.591366 UniProtKB MCU_HUMAN http://www.uniprot.org/uniprot/MCU_HUMAN UniProtKB-AC Q8NE86 http://www.uniprot.org/uniprot/Q8NE86 charge swissprot:MCU_HUMAN http://rest.g-language.org/emboss/charge/swissprot:MCU_HUMAN eggNOG ENOG410Y3YU http://eggnogapi.embl.de/nog_data/html/tree/ENOG410Y3YU eggNOG KOG2966 http://eggnogapi.embl.de/nog_data/html/tree/KOG2966 epestfind swissprot:MCU_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:MCU_HUMAN garnier swissprot:MCU_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:MCU_HUMAN helixturnhelix swissprot:MCU_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:MCU_HUMAN hmoment swissprot:MCU_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:MCU_HUMAN iep swissprot:MCU_HUMAN http://rest.g-language.org/emboss/iep/swissprot:MCU_HUMAN inforesidue swissprot:MCU_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:MCU_HUMAN neXtProt NX_Q8NE86 http://www.nextprot.org/db/entry/NX_Q8NE86 octanol swissprot:MCU_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:MCU_HUMAN pepcoil swissprot:MCU_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:MCU_HUMAN pepdigest swissprot:MCU_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:MCU_HUMAN pepinfo swissprot:MCU_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:MCU_HUMAN pepnet swissprot:MCU_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:MCU_HUMAN pepstats swissprot:MCU_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:MCU_HUMAN pepwheel swissprot:MCU_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:MCU_HUMAN pepwindow swissprot:MCU_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:MCU_HUMAN sigcleave swissprot:MCU_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:MCU_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S38A9_HUMAN Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q8NBW4-1; Sequence=Displayed; Name=2; IsoId=Q8NBW4-2; Sequence=VSP_032815; Note=No experimental confirmation available.; Name=3; IsoId=Q8NBW4-3; Sequence=VSP_045111, VSP_045112; Name=4; IsoId=Q8NBW4-4; Sequence=VSP_045110; # AltName Solute carrier family 38 member 9 {ECO:0000312|HGNC HGNC:26907} # AltName Up-regulated in lung cancer 11 {ECO 0000303|Ref.2} # BioGrid 127480 11 # CCDS CCDS3968 -. [Q8NBW4-1] # CCDS CCDS58947 -. [Q8NBW4-4] # CCDS CCDS58948 -. [Q8NBW4-3] # DOMAIN S38A9_HUMAN The cytosolic N-terminus part of the protein mediates interaction with the Ragulator complex and the Rag GTPases heterodimers. {ECO 0000269|PubMed 25561175, ECO 0000269|PubMed 25567906}. # Ensembl ENST00000318672 ENSP00000316596; ENSG00000177058. [Q8NBW4-1] # Ensembl ENST00000396865 ENSP00000380074; ENSG00000177058. [Q8NBW4-1] # Ensembl ENST00000512595 ENSP00000427335; ENSG00000177058. [Q8NBW4-3] # Ensembl ENST00000515629 ENSP00000420934; ENSG00000177058. [Q8NBW4-4] # ExpressionAtlas Q8NBW4 baseline and differential # FUNCTION S38A9_HUMAN Lysosomal amino acid transporter involved in the activation of mTORC1 in response to amino acids. Probably acts as an amino acid sensor of the Rag GTPases and Ragulator complexes, 2 complexes involved in amino acid sensing and activation of mTORC1, a signaling complex promoting cell growth in response to growth factors, energy levels, and amino acids (PubMed 25561175, PubMed 25567906). Following activation by amino acids, the Ragulator and Rag GTPases function as a scaffold recruiting mTORC1 to lysosomes where it is in turn activated. SLC38A9 mediates transport of amino acids with low capacity and specificity with a slight preference for polar amino acids, suggesting that it acts as an amino acid sensor instead (PubMed 25561175, PubMed 25567906). The high concentration of arginine in lysosomes suggests that it acts as an arginine sensor (PubMed 25567906). {ECO 0000269|PubMed 25561175, ECO 0000269|PubMed 25567906}. # GO_component GO:0005764 lysosome; IDA:UniProtKB. # GO_component GO:0005765 lysosomal membrane; IEA:UniProtKB-SubCell. # GO_component GO:0005770 late endosome; IDA:UniProtKB. # GO_component GO:0005783 endoplasmic reticulum; IBA:GO_Central. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0031902 late endosome membrane; IEA:UniProtKB-SubCell. # GO_function GO:0015171 amino acid transmembrane transporter activity; IDA:UniProtKB. # GO_process GO:0003333 amino acid transmembrane transport; IDA:UniProtKB. # GO_process GO:0032008 positive regulation of TOR signaling; IDA:UniProtKB. # GO_process GO:0071230 cellular response to amino acid stimulus; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005764 lysosome # GOslim_component GO:0005768 endosome # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0008150 biological_process # GOslim_process GO:0055085 transmembrane transport # Genevisible Q8NBW4 HS # HGNC HGNC:26907 SLC38A9 # INTERACTION S38A9_HUMAN Q6IAA8 LAMTOR1; NbExp=9; IntAct=EBI-9978316, EBI-715385; Q9UHA4 LAMTOR3; NbExp=5; IntAct=EBI-9978316, EBI-1038192; Q0VGL1 LAMTOR4; NbExp=3; IntAct=EBI-9978316, EBI-5658976; O43504 LAMTOR5; NbExp=3; IntAct=EBI-9978316, EBI-713382; Q7L523 RRAGA; NbExp=11; IntAct=EBI-9978316, EBI-752376; Q9HB90 RRAGC; NbExp=9; IntAct=EBI-9978316, EBI-752390; # IntAct Q8NBW4 15 # InterPro IPR013057 AA_transpt_TM # KEGG_Brite ko02001 Solute carrier family # MIM 616203 gene # Organism S38A9_HUMAN Homo sapiens (Human) # PTM S38A9_HUMAN Glycosylated. {ECO 0000269|PubMed 25561175, ECO 0000269|PubMed 25567906}. # Pfam PF01490 Aa_trans; 2 # Proteomes UP000005640 Chromosome 5 # RecName Sodium-coupled neutral amino acid transporter 9 {ECO 0000305} # RefSeq NP_001245215 NM_001258286.1. [Q8NBW4-4] # RefSeq NP_001245216 NM_001258287.1. [Q8NBW4-3] # RefSeq NP_775785 NM_173514.3. [Q8NBW4-1] # RefSeq XP_006714600 XM_006714537.2. [Q8NBW4-1] # RefSeq XP_006714601 XM_006714538.3. [Q8NBW4-1] # RefSeq XP_006714602 XM_006714539.3. [Q8NBW4-1] # RefSeq XP_011541475 XM_011543173.1. [Q8NBW4-1] # RefSeq XP_011541476 XM_011543174.1. [Q8NBW4-1] # SEQUENCE CAUTION Sequence=BAQ19756.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the amino acid/polyamine transporter 2 family. SLC38A9 subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION S38A9_HUMAN Lysosome membrane {ECO 0000269|PubMed 25561175, ECO 0000269|PubMed 25567906}; Multi- pass membrane protein {ECO 0000255}. Late endosome membrane {ECO 0000269|PubMed 25561175}; Multi-pass membrane protein {ECO 0000255}. # SUBUNIT S38A9_HUMAN Associated component of the Ragulator complex (composed of LAMTOR1, LAMTOR2, LAMTOR3, LAMTOR4 and LAMTOR5). Associated component of the Rag GTPases heterodimers (composed of RRAGA, RRAGB, RRAGC and RRAGD). {ECO 0000269|PubMed 25561175, ECO 0000269|PubMed 25567906}. # TCDB 2.A.18.9 the amino acid/auxin permease (aaap) family # UCSC uc003jqd human. [Q8NBW4-1] # eggNOG COG0814 LUCA # eggNOG KOG1305 Eukaryota BLAST swissprot:S38A9_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S38A9_HUMAN BioCyc ZFISH:ENSG00000177058-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000177058-MONOMER COXPRESdb 153129 http://coxpresdb.jp/data/gene/153129.shtml CleanEx HS_SLC38A9 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC38A9 DIP DIP-61480N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-61480N DOI 10.1038/nature02919 http://dx.doi.org/10.1038/nature02919 DOI 10.1038/nature14107 http://dx.doi.org/10.1038/nature14107 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1257132 http://dx.doi.org/10.1126/science.1257132 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 EMBL AB105188 http://www.ebi.ac.uk/ena/data/view/AB105188 EMBL AC008784 http://www.ebi.ac.uk/ena/data/view/AC008784 EMBL AC016632 http://www.ebi.ac.uk/ena/data/view/AC016632 EMBL AK075190 http://www.ebi.ac.uk/ena/data/view/AK075190 EMBL AK127988 http://www.ebi.ac.uk/ena/data/view/AK127988 EMBL AK301850 http://www.ebi.ac.uk/ena/data/view/AK301850 EMBL BC066891 http://www.ebi.ac.uk/ena/data/view/BC066891 EMBL BC101362 http://www.ebi.ac.uk/ena/data/view/BC101362 EMBL BX641065 http://www.ebi.ac.uk/ena/data/view/BX641065 EMBL CH471123 http://www.ebi.ac.uk/ena/data/view/CH471123 Ensembl ENST00000318672 http://www.ensembl.org/id/ENST00000318672 Ensembl ENST00000396865 http://www.ensembl.org/id/ENST00000396865 Ensembl ENST00000512595 http://www.ensembl.org/id/ENST00000512595 Ensembl ENST00000515629 http://www.ensembl.org/id/ENST00000515629 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005764 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005764 GO_component GO:0005765 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005765 GO_component GO:0005770 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005770 GO_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0031902 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031902 GO_function GO:0015171 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015171 GO_process GO:0003333 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003333 GO_process GO:0032008 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032008 GO_process GO:0071230 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071230 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005764 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005764 GOslim_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC38A9 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC38A9 GeneID 153129 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=153129 GeneTree ENSGT00390000005646 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000005646 HGNC HGNC:26907 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:26907 HOGENOM HOG000294102 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000294102&db=HOGENOM6 HOVERGEN HBG106242 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG106242&db=HOVERGEN HPA HPA043785 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA043785 InParanoid Q8NBW4 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8NBW4 IntAct Q8NBW4 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q8NBW4* InterPro IPR013057 http://www.ebi.ac.uk/interpro/entry/IPR013057 Jabion 153129 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=153129 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:153129 http://www.genome.jp/dbget-bin/www_bget?hsa:153129 KEGG_Orthology KO:K14995 http://www.genome.jp/dbget-bin/www_bget?KO:K14995 MIM 616203 http://www.ncbi.nlm.nih.gov/omim/616203 OMA DCIEQNF http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=DCIEQNF OrthoDB EOG091G04X6 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G04X6 PSORT swissprot:S38A9_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S38A9_HUMAN PSORT-B swissprot:S38A9_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S38A9_HUMAN PSORT2 swissprot:S38A9_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S38A9_HUMAN Pfam PF01490 http://pfam.xfam.org/family/PF01490 PharmGKB PA162403774 http://www.pharmgkb.org/do/serve?objId=PA162403774&objCls=Gene Phobius swissprot:S38A9_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S38A9_HUMAN PhylomeDB Q8NBW4 http://phylomedb.org/?seqid=Q8NBW4 ProteinModelPortal Q8NBW4 http://www.proteinmodelportal.org/query/uniprot/Q8NBW4 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15372022 http://www.ncbi.nlm.nih.gov/pubmed/15372022 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 25561175 http://www.ncbi.nlm.nih.gov/pubmed/25561175 PubMed 25567906 http://www.ncbi.nlm.nih.gov/pubmed/25567906 RefSeq NP_001245215 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001245215 RefSeq NP_001245216 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001245216 RefSeq NP_775785 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_775785 RefSeq XP_006714600 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006714600 RefSeq XP_006714601 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006714601 RefSeq XP_006714602 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006714602 RefSeq XP_011541475 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011541475 RefSeq XP_011541476 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011541476 STRING 9606.ENSP00000316596 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000316596&targetmode=cogs TCDB 2.A.18.9 http://www.tcdb.org/search/result.php?tc=2.A.18.9 UCSC uc003jqd http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003jqd&org=rat UniGene Hs.742101 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.742101 UniGene Hs.745105 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.745105 UniProtKB S38A9_HUMAN http://www.uniprot.org/uniprot/S38A9_HUMAN UniProtKB-AC Q8NBW4 http://www.uniprot.org/uniprot/Q8NBW4 charge swissprot:S38A9_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S38A9_HUMAN eggNOG COG0814 http://eggnogapi.embl.de/nog_data/html/tree/COG0814 eggNOG KOG1305 http://eggnogapi.embl.de/nog_data/html/tree/KOG1305 epestfind swissprot:S38A9_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S38A9_HUMAN garnier swissprot:S38A9_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S38A9_HUMAN helixturnhelix swissprot:S38A9_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S38A9_HUMAN hmoment swissprot:S38A9_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S38A9_HUMAN iep swissprot:S38A9_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S38A9_HUMAN inforesidue swissprot:S38A9_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S38A9_HUMAN neXtProt NX_Q8NBW4 http://www.nextprot.org/db/entry/NX_Q8NBW4 octanol swissprot:S38A9_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S38A9_HUMAN pepcoil swissprot:S38A9_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S38A9_HUMAN pepdigest swissprot:S38A9_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S38A9_HUMAN pepinfo swissprot:S38A9_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S38A9_HUMAN pepnet swissprot:S38A9_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S38A9_HUMAN pepstats swissprot:S38A9_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S38A9_HUMAN pepwheel swissprot:S38A9_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S38A9_HUMAN pepwindow swissprot:S38A9_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S38A9_HUMAN sigcleave swissprot:S38A9_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S38A9_HUMAN ## Database ID URL or Descriptions # BioGrid 125630 16 # Ensembl ENST00000369893 ENSP00000358909; ENSG00000156398 # ExpressionAtlas Q96NB2 baseline and differential # FUNCTION SFXN2_HUMAN Potential iron transporter. # GO_component GO:0005743 mitochondrial inner membrane; IEA:Ensembl. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0015075 ion transmembrane transporter activity; IEA:InterPro. # GO_process GO:0055072 iron ion homeostasis; IEA:UniProtKB-KW. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0042592 homeostatic process # Genevisible Q96NB2 HS # HGNC HGNC:16086 SFXN2 # IntAct Q96NB2 2 # InterPro IPR004686 Mtc # MIM 615570 gene # Organism SFXN2_HUMAN Homo sapiens (Human) # PANTHER PTHR11153 PTHR11153 # Pfam PF03820 Mtc # Proteomes UP000005640 Chromosome 10 # RecName SFXN2_HUMAN Sideroflexin-2 # RefSeq NP_849189 NM_178858.4 # RefSeq XP_011537564 XM_011539262.2 # RefSeq XP_016871152 XM_017015663.1 # SEQUENCE CAUTION Sequence=BAB70993.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the sideroflexin family. {ECO 0000305}. # SUBCELLULAR LOCATION SFXN2_HUMAN Mitochondrion membrane {ECO 0000250}; Multi- pass membrane protein {ECO 0000250}. # TIGRFAMs TIGR00798 mtc # TISSUE SPECIFICITY Widely expressed, highest levels in kidney, liver, and pancreas. {ECO:0000269|PubMed 12670026}. # UCSC uc001kwb human # eggNOG ENOG410YU8V LUCA # eggNOG KOG3767 Eukaryota BLAST swissprot:SFXN2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SFXN2_HUMAN BioCyc ZFISH:ENSG00000156398-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000156398-MONOMER COXPRESdb 118980 http://coxpresdb.jp/data/gene/118980.shtml CleanEx HS_SFXN2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SFXN2 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1023/A:1022026001114 http://dx.doi.org/10.1023/A:1022026001114 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.1210303109 http://dx.doi.org/10.1073/pnas.1210303109 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AF462052 http://www.ebi.ac.uk/ena/data/view/AF462052 EMBL AK055711 http://www.ebi.ac.uk/ena/data/view/AK055711 EMBL BC022091 http://www.ebi.ac.uk/ena/data/view/BC022091 EMBL CH471066 http://www.ebi.ac.uk/ena/data/view/CH471066 EMBL CH471066 http://www.ebi.ac.uk/ena/data/view/CH471066 Ensembl ENST00000369893 http://www.ensembl.org/id/ENST00000369893 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0015075 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015075 GO_process GO:0055072 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055072 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GeneCards SFXN2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SFXN2 GeneID 118980 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=118980 GeneTree ENSGT00390000002026 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000002026 HGNC HGNC:16086 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:16086 HOGENOM HOG000203440 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000203440&db=HOGENOM6 HOVERGEN HBG056083 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG056083&db=HOVERGEN HPA HPA018150 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA018150 HPA HPA026834 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA026834 InParanoid Q96NB2 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q96NB2 IntAct Q96NB2 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q96NB2* InterPro IPR004686 http://www.ebi.ac.uk/interpro/entry/IPR004686 Jabion 118980 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=118980 KEGG_Gene hsa:118980 http://www.genome.jp/dbget-bin/www_bget?hsa:118980 MIM 615570 http://www.ncbi.nlm.nih.gov/omim/615570 OMA EQLHYAK http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=EQLHYAK OrthoDB EOG091G0BOU http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0BOU PANTHER PTHR11153 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11153 PSORT swissprot:SFXN2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SFXN2_HUMAN PSORT-B swissprot:SFXN2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SFXN2_HUMAN PSORT2 swissprot:SFXN2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SFXN2_HUMAN Pfam PF03820 http://pfam.xfam.org/family/PF03820 PharmGKB PA38091 http://www.pharmgkb.org/do/serve?objId=PA38091&objCls=Gene Phobius swissprot:SFXN2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SFXN2_HUMAN PhylomeDB Q96NB2 http://phylomedb.org/?seqid=Q96NB2 ProteinModelPortal Q96NB2 http://www.proteinmodelportal.org/query/uniprot/Q96NB2 PubMed 12670026 http://www.ncbi.nlm.nih.gov/pubmed/12670026 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 22814378 http://www.ncbi.nlm.nih.gov/pubmed/22814378 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 RefSeq NP_849189 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_849189 RefSeq XP_011537564 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011537564 RefSeq XP_016871152 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016871152 STRING 9606.ENSP00000358909 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000358909&targetmode=cogs TIGRFAMs TIGR00798 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00798 UCSC uc001kwb http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001kwb&org=rat UniGene Hs.44070 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.44070 UniProtKB SFXN2_HUMAN http://www.uniprot.org/uniprot/SFXN2_HUMAN UniProtKB-AC Q96NB2 http://www.uniprot.org/uniprot/Q96NB2 charge swissprot:SFXN2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SFXN2_HUMAN eggNOG ENOG410YU8V http://eggnogapi.embl.de/nog_data/html/tree/ENOG410YU8V eggNOG KOG3767 http://eggnogapi.embl.de/nog_data/html/tree/KOG3767 epestfind swissprot:SFXN2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SFXN2_HUMAN garnier swissprot:SFXN2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SFXN2_HUMAN helixturnhelix swissprot:SFXN2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SFXN2_HUMAN hmoment swissprot:SFXN2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SFXN2_HUMAN iep swissprot:SFXN2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SFXN2_HUMAN inforesidue swissprot:SFXN2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SFXN2_HUMAN neXtProt NX_Q96NB2 http://www.nextprot.org/db/entry/NX_Q96NB2 octanol swissprot:SFXN2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SFXN2_HUMAN pepcoil swissprot:SFXN2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SFXN2_HUMAN pepdigest swissprot:SFXN2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SFXN2_HUMAN pepinfo swissprot:SFXN2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SFXN2_HUMAN pepnet swissprot:SFXN2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SFXN2_HUMAN pepstats swissprot:SFXN2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SFXN2_HUMAN pepwheel swissprot:SFXN2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SFXN2_HUMAN pepwindow swissprot:SFXN2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SFXN2_HUMAN sigcleave swissprot:SFXN2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SFXN2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS APOL1_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; Synonyms=A; IsoId=O14791-1; Sequence=Displayed; Note=Major isoform.; Name=2; Synonyms=B; IsoId=O14791-2; Sequence=VSP_000292; Name=3; IsoId=O14791-3; Sequence=VSP_045077; Note=No experimental confirmation available.; # AltName APOL1_HUMAN Apolipoprotein L # AltName APOL1_HUMAN Apolipoprotein L-I # BioGrid 114112 2 # CCDS CCDS13925 -. [O14791-2] # CCDS CCDS13926 -. [O14791-1] # CCDS CCDS46702 -. [O14791-3] # ChiTaRS APOL1 human # DISEASE APOL1_HUMAN Focal segmental glomerulosclerosis 4 (FSGS4) [MIM 612551] A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation. {ECO 0000269|PubMed 20635188, ECO 0000269|PubMed 20647424}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000319136 ENSP00000317674; ENSG00000100342. [O14791-2] # Ensembl ENST00000397278 ENSP00000380448; ENSG00000100342. [O14791-1] # Ensembl ENST00000397279 ENSP00000380449; ENSG00000100342. [O14791-1] # Ensembl ENST00000422706 ENSP00000411507; ENSG00000100342. [O14791-1] # Ensembl ENST00000426053 ENSP00000388477; ENSG00000100342. [O14791-3] # ExpressionAtlas O14791 baseline and differential # FUNCTION APOL1_HUMAN May play a role in lipid exchange and transport throughout the body. May participate in reverse cholesterol transport from peripheral cells to the liver. # GO_component GO:0005576 extracellular region; TAS:Reactome. # GO_component GO:0005615 extracellular space; IDA:BHF-UCL. # GO_component GO:0031224 intrinsic component of membrane; IC:BHF-UCL. # GO_component GO:0034361 very-low-density lipoprotein particle; IDA:BHF-UCL. # GO_component GO:0034364 high-density lipoprotein particle; IDA:BHF-UCL. # GO_component GO:0072562 blood microparticle; IDA:UniProtKB. # GO_function GO:0005254 chloride channel activity; IDA:BHF-UCL. # GO_function GO:0008289 lipid binding; IDA:BHF-UCL. # GO_process GO:0006869 lipid transport; IEA:UniProtKB-KW. # GO_process GO:0006898 receptor-mediated endocytosis; TAS:Reactome. # GO_process GO:0008203 cholesterol metabolic process; IEA:UniProtKB-KW. # GO_process GO:0019835 cytolysis; IDA:BHF-UCL. # GO_process GO:0031640 killing of cells of other organism; IDA:BHF-UCL. # GO_process GO:0042157 lipoprotein metabolic process; IEA:InterPro. # GO_process GO:0045087 innate immune response; IDA:BHF-UCL. # GO_process GO:1902476 chloride transmembrane transport; IMP:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005576 extracellular region # GOslim_component GO:0005615 extracellular space # GOslim_function GO:0008289 lipid binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0002376 immune system process # GOslim_process GO:0006629 lipid metabolic process # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0008150 biological_process # GOslim_process GO:0016192 vesicle-mediated transport # GOslim_process GO:0044281 small molecule metabolic process # GOslim_process GO:0055085 transmembrane transport # Genevisible O14791 HS # HGNC HGNC:618 APOL1 # INTERACTION APOL1_HUMAN Q9UJX2 CDC23; NbExp=3; IntAct=EBI-1221934, EBI-396137; # IntAct O14791 2 # InterPro IPR008405 ApoL # KEGG_Disease H00626 [Kidney disease] Focal segmental glomerulosclerosis # MIM 603743 gene # MIM 612551 phenotype # Organism APOL1_HUMAN Homo sapiens (Human) # Orphanet 93218 Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis # PANTHER PTHR14096 PTHR14096 # PTM APOL1_HUMAN Phosphorylated by FAM20C in the extracellular medium. {ECO 0000269|PubMed 26091039}. # Pfam PF05461 ApoL # Proteomes UP000005640 Chromosome 22 # Reactome R-HSA-2168880 Scavenging of heme from plasma # RecName APOL1_HUMAN Apolipoprotein L1 # RefSeq NP_001130012 NM_001136540.1. [O14791-1] # RefSeq NP_001130013 NM_001136541.1. [O14791-3] # RefSeq NP_003652 NM_003661.3. [O14791-1] # RefSeq XP_005261853 XM_005261796.3. [O14791-3] # SEQUENCE CAUTION Sequence=AAB81218.2; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the apolipoprotein L family. {ECO 0000305}. # SUBCELLULAR LOCATION APOL1_HUMAN Secreted. # SUBUNIT APOL1_HUMAN In plasma, interacts with APOA1 and mainly associated with large high density lipoprotein particles. # TISSUE SPECIFICITY APOL1_HUMAN Plasma. Found on APOA-I-containing high density lipoprotein (HDL3). Expressed in pancreas, lung, prostate, liver, placenta and spleen. # UCSC uc003ape human. [O14791-1] # eggNOG ENOG410KC8P Eukaryota # eggNOG ENOG4110P7Y LUCA BLAST swissprot:APOL1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:APOL1_HUMAN BioCyc ZFISH:ENSG00000100342-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000100342-MONOMER COXPRESdb 8542 http://coxpresdb.jp/data/gene/8542.shtml CleanEx HS_APOL1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_APOL1 DOI 10.1006/geno.2001.6534 http://dx.doi.org/10.1006/geno.2001.6534 DOI 10.1006/geno.2002.6729 http://dx.doi.org/10.1006/geno.2002.6729 DOI 10.1007/s00439-010-0861-0 http://dx.doi.org/10.1007/s00439-010-0861-0 DOI 10.1016/j.cell.2015.05.028 http://dx.doi.org/10.1016/j.cell.2015.05.028 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/pr0502065 http://dx.doi.org/10.1021/pr0502065 DOI 10.1038/990031 http://dx.doi.org/10.1038/990031 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.272.41.25576 http://dx.doi.org/10.1074/jbc.272.41.25576 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1133427 http://dx.doi.org/10.1126/science.1133427 DOI 10.1126/science.1193032 http://dx.doi.org/10.1126/science.1193032 EMBL AF019225 http://www.ebi.ac.uk/ena/data/view/AF019225 EMBL AF305224 http://www.ebi.ac.uk/ena/data/view/AF305224 EMBL AF305428 http://www.ebi.ac.uk/ena/data/view/AF305428 EMBL AF323540 http://www.ebi.ac.uk/ena/data/view/AF323540 EMBL AF323543 http://www.ebi.ac.uk/ena/data/view/AF323543 EMBL AF323544 http://www.ebi.ac.uk/ena/data/view/AF323544 EMBL AF323545 http://www.ebi.ac.uk/ena/data/view/AF323545 EMBL AF323546 http://www.ebi.ac.uk/ena/data/view/AF323546 EMBL AF323547 http://www.ebi.ac.uk/ena/data/view/AF323547 EMBL AF323548 http://www.ebi.ac.uk/ena/data/view/AF323548 EMBL AK300454 http://www.ebi.ac.uk/ena/data/view/AK300454 EMBL BC143039 http://www.ebi.ac.uk/ena/data/view/BC143039 EMBL Z82215 http://www.ebi.ac.uk/ena/data/view/Z82215 EMBL Z82215 http://www.ebi.ac.uk/ena/data/view/Z82215 Ensembl ENST00000319136 http://www.ensembl.org/id/ENST00000319136 Ensembl ENST00000397278 http://www.ensembl.org/id/ENST00000397278 Ensembl ENST00000397279 http://www.ensembl.org/id/ENST00000397279 Ensembl ENST00000422706 http://www.ensembl.org/id/ENST00000422706 Ensembl ENST00000426053 http://www.ensembl.org/id/ENST00000426053 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005576 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005576 GO_component GO:0005615 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005615 GO_component GO:0031224 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031224 GO_component GO:0034361 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034361 GO_component GO:0034364 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034364 GO_component GO:0072562 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0072562 GO_function GO:0005254 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005254 GO_function GO:0008289 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008289 GO_process GO:0006869 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006869 GO_process GO:0006898 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006898 GO_process GO:0008203 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008203 GO_process GO:0019835 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019835 GO_process GO:0031640 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031640 GO_process GO:0042157 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042157 GO_process GO:0045087 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045087 GO_process GO:1902476 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902476 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005576 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005576 GOslim_component GO:0005615 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005615 GOslim_function GO:0008289 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008289 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0002376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002376 GOslim_process GO:0006629 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006629 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0016192 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016192 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards APOL1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=APOL1 GeneID 8542 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=8542 GeneTree ENSGT00510000046700 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00510000046700 H-InvDB HIX0016423 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0016423 HGNC HGNC:618 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:618 HOGENOM HOG000294132 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000294132&db=HOGENOM6 HOVERGEN HBG074468 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG074468&db=HOVERGEN HPA CAB056156 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB056156 HPA HPA018885 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA018885 InParanoid O14791 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O14791 IntAct O14791 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O14791* InterPro IPR008405 http://www.ebi.ac.uk/interpro/entry/IPR008405 Jabion 8542 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=8542 KEGG_Disease H00626 http://www.genome.jp/dbget-bin/www_bget?H00626 KEGG_Gene hsa:8542 http://www.genome.jp/dbget-bin/www_bget?hsa:8542 KEGG_Orthology KO:K14480 http://www.genome.jp/dbget-bin/www_bget?KO:K14480 MIM 603743 http://www.ncbi.nlm.nih.gov/omim/603743 MIM 612551 http://www.ncbi.nlm.nih.gov/omim/612551 OMA VQKVHKG http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=VQKVHKG Orphanet 93218 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=93218 OrthoDB EOG091G0BJK http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0BJK PANTHER PTHR14096 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR14096 PSORT swissprot:APOL1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:APOL1_HUMAN PSORT-B swissprot:APOL1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:APOL1_HUMAN PSORT2 swissprot:APOL1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:APOL1_HUMAN Pfam PF05461 http://pfam.xfam.org/family/PF05461 PharmGKB PA24904 http://www.pharmgkb.org/do/serve?objId=PA24904&objCls=Gene Phobius swissprot:APOL1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:APOL1_HUMAN PhylomeDB O14791 http://phylomedb.org/?seqid=O14791 ProteinModelPortal O14791 http://www.proteinmodelportal.org/query/uniprot/O14791 PubMed 10591208 http://www.ncbi.nlm.nih.gov/pubmed/10591208 PubMed 11290834 http://www.ncbi.nlm.nih.gov/pubmed/11290834 PubMed 11374903 http://www.ncbi.nlm.nih.gov/pubmed/11374903 PubMed 11944986 http://www.ncbi.nlm.nih.gov/pubmed/11944986 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16335952 http://www.ncbi.nlm.nih.gov/pubmed/16335952 PubMed 16959974 http://www.ncbi.nlm.nih.gov/pubmed/16959974 PubMed 20635188 http://www.ncbi.nlm.nih.gov/pubmed/20635188 PubMed 20647424 http://www.ncbi.nlm.nih.gov/pubmed/20647424 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 26091039 http://www.ncbi.nlm.nih.gov/pubmed/26091039 PubMed 9325276 http://www.ncbi.nlm.nih.gov/pubmed/9325276 Reactome R-HSA-2168880 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2168880 RefSeq NP_001130012 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001130012 RefSeq NP_001130013 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001130013 RefSeq NP_003652 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_003652 RefSeq XP_005261853 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005261853 STRING 9606.ENSP00000317674 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000317674&targetmode=cogs UCSC uc003ape http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003ape&org=rat UniGene Hs.114309 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.114309 UniProtKB APOL1_HUMAN http://www.uniprot.org/uniprot/APOL1_HUMAN UniProtKB-AC O14791 http://www.uniprot.org/uniprot/O14791 charge swissprot:APOL1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:APOL1_HUMAN eggNOG ENOG410KC8P http://eggnogapi.embl.de/nog_data/html/tree/ENOG410KC8P eggNOG ENOG4110P7Y http://eggnogapi.embl.de/nog_data/html/tree/ENOG4110P7Y epestfind swissprot:APOL1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:APOL1_HUMAN garnier swissprot:APOL1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:APOL1_HUMAN helixturnhelix swissprot:APOL1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:APOL1_HUMAN hmoment swissprot:APOL1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:APOL1_HUMAN iep swissprot:APOL1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:APOL1_HUMAN inforesidue swissprot:APOL1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:APOL1_HUMAN neXtProt NX_O14791 http://www.nextprot.org/db/entry/NX_O14791 octanol swissprot:APOL1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:APOL1_HUMAN pepcoil swissprot:APOL1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:APOL1_HUMAN pepdigest swissprot:APOL1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:APOL1_HUMAN pepinfo swissprot:APOL1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:APOL1_HUMAN pepnet swissprot:APOL1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:APOL1_HUMAN pepstats swissprot:APOL1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:APOL1_HUMAN pepwheel swissprot:APOL1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:APOL1_HUMAN pepwindow swissprot:APOL1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:APOL1_HUMAN sigcleave swissprot:APOL1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:APOL1_HUMAN ## Database ID URL or Descriptions # AltName TOM22_HUMAN 1C9-2 # AltName TOM22_HUMAN Translocase of outer membrane 22 kDa subunit homolog # BioGrid 121308 70 # ChiTaRS TOMM22 human # DOMAIN TOM22_HUMAN Requires the transmembrane domain (TMD), a short segment (the import sequence) in the cytoplasmic domain localizing separately from the TMD and the C-tail signal in the C-terminal domain for efficient targeting and integration into the TOM complex (By similarity). The N-terminal domain (residues 1-62) is important for binding to the unfolded mature imported proteins. Residues (49-71) of the cytoplasmic domain interacts with TOMM20 while the C-terminal segment (residues 63-82) binds presequence of preproteins. {ECO 0000250}. # Ensembl ENST00000216034 ENSP00000216034; ENSG00000100216 # ExpressionAtlas Q9NS69 baseline and differential # FUNCTION TOM22_HUMAN Central receptor component of the translocase of the outer membrane of mitochondria (TOM complex) responsible for the recognition and translocation of cytosolically synthesized mitochondrial preproteins. Together with the peripheral receptor TOM20 functions as the transit peptide receptor and facilitates the movement of preproteins into the translocation pore. {ECO 0000269|PubMed 10982837}. # GO_component GO:0005739 mitochondrion; IDA:HPA. # GO_component GO:0005741 mitochondrial outer membrane; TAS:Reactome. # GO_component GO:0005742 mitochondrial outer membrane translocase complex; IDA:BHF-UCL. # GO_component GO:0005743 mitochondrial inner membrane; IEA:Ensembl. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; IDA:BHF-UCL. # GO_component GO:0031307 integral component of mitochondrial outer membrane; IBA:GO_Central. # GO_function GO:0008320 protein transmembrane transporter activity; ISS:BHF-UCL. # GO_process GO:0006626 protein targeting to mitochondrion; TAS:HGNC. # GO_process GO:0016236 macroautophagy; TAS:Reactome. # GO_process GO:0030150 protein import into mitochondrial matrix; IBA:GO_Central. # GO_process GO:0045040 protein import into mitochondrial outer membrane; IDA:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005739 mitochondrion # GOslim_component GO:0043234 protein complex # GOslim_function GO:0008565 protein transporter activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006605 protein targeting # GOslim_process GO:0006914 autophagy # GOslim_process GO:0007005 mitochondrion organization # GOslim_process GO:0055085 transmembrane transport # GOslim_process GO:0061024 membrane organization # Genevisible Q9NS69 HS # HGNC HGNC:18002 TOMM22 # INTERACTION TOM22_HUMAN P03419 M (xeno); NbExp=2; IntAct=EBI-1047508, EBI-10042882; Q9P0U1 TOMM7; NbExp=2; IntAct=EBI-1047508, EBI-1180558; # IntAct Q9NS69 14 # InterPro IPR005683 Tom22 # MIM 607046 gene # Organism TOM22_HUMAN Homo sapiens (Human) # Pfam PF04281 Tom22 # Proteomes UP000005640 Chromosome 22 # Reactome R-HSA-1268020 Mitochondrial protein import # Reactome R-HSA-5205685 Pink/Parkin Mediated Mitophagy # RecName TOM22_HUMAN Mitochondrial import receptor subunit TOM22 homolog # RefSeq NP_064628 NM_020243.4 # SIMILARITY Belongs to the Tom22 family. {ECO 0000305}. # SUBCELLULAR LOCATION TOM22_HUMAN Mitochondrion outer membrane {ECO 0000269|PubMed 10982837}; Single-pass membrane protein {ECO 0000269|PubMed 10982837}. # SUBUNIT TOM22_HUMAN Forms part of the preprotein translocase complex of the outer mitochondrial membrane (TOM complex) which consists of at least 7 different proteins (TOMM5, TOMM6, TOMM7, TOMM20, TOMM22, TOMM40 and TOMM70) (PubMed 18331822). Interacts with TOMM40. Interacts with PPP2R2B (By similarity). {ECO 0000250|UniProtKB Q75Q41, ECO 0000269|PubMed 18331822}. # TISSUE SPECIFICITY TOM22_HUMAN Ubiquitous. # UCSC uc003awe human # eggNOG ENOG41122K3 LUCA # eggNOG KOG4111 Eukaryota BLAST swissprot:TOM22_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:TOM22_HUMAN BioCyc ZFISH:ENSG00000100216-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000100216-MONOMER COXPRESdb 56993 http://coxpresdb.jp/data/gene/56993.shtml CleanEx HS_TOMM22 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_TOMM22 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1016/j.bbrc.2008.02.150 http://dx.doi.org/10.1016/j.bbrc.2008.02.150 DOI 10.1016/j.cell.2006.09.026 http://dx.doi.org/10.1016/j.cell.2006.09.026 DOI 10.1021/ac9004309 http://dx.doi.org/10.1021/ac9004309 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1074/jbc.M004794200 http://dx.doi.org/10.1074/jbc.M004794200 DOI 10.1074/mcp.M111.015131 http://dx.doi.org/10.1074/mcp.M111.015131 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 DOI 10.1126/scisignal.2001570 http://dx.doi.org/10.1126/scisignal.2001570 DOI 10.1128/MCB.20.19.7205-7213.2000 http://dx.doi.org/10.1128/MCB.20.19.7205-7213.2000 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DOI 10.1186/gb-2004-5-10-r84 http://dx.doi.org/10.1186/gb-2004-5-10-r84 EMBL AB040119 http://www.ebi.ac.uk/ena/data/view/AB040119 EMBL AB041906 http://www.ebi.ac.uk/ena/data/view/AB041906 EMBL AK024731 http://www.ebi.ac.uk/ena/data/view/AK024731 EMBL BC009363 http://www.ebi.ac.uk/ena/data/view/BC009363 EMBL CR456475 http://www.ebi.ac.uk/ena/data/view/CR456475 Ensembl ENST00000216034 http://www.ensembl.org/id/ENST00000216034 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005741 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005741 GO_component GO:0005742 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005742 GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0031307 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031307 GO_function GO:0008320 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008320 GO_process GO:0006626 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006626 GO_process GO:0016236 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016236 GO_process GO:0030150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030150 GO_process GO:0045040 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045040 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006605 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006605 GOslim_process GO:0006914 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006914 GOslim_process GO:0007005 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007005 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GOslim_process GO:0061024 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061024 GeneCards TOMM22 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=TOMM22 GeneID 56993 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=56993 GeneTree ENSGT00390000016475 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000016475 HGNC HGNC:18002 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:18002 HOGENOM HOG000067816 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000067816&db=HOGENOM6 HOVERGEN HBG061819 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG061819&db=HOVERGEN HPA HPA003037 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA003037 InParanoid Q9NS69 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9NS69 IntAct Q9NS69 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9NS69* InterPro IPR005683 http://www.ebi.ac.uk/interpro/entry/IPR005683 Jabion 56993 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=56993 KEGG_Gene hsa:56993 http://www.genome.jp/dbget-bin/www_bget?hsa:56993 MIM 607046 http://www.ncbi.nlm.nih.gov/omim/607046 OMA FYTFSCN http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=FYTFSCN OrthoDB EOG091G0XN1 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0XN1 PSORT swissprot:TOM22_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:TOM22_HUMAN PSORT-B swissprot:TOM22_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:TOM22_HUMAN PSORT2 swissprot:TOM22_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:TOM22_HUMAN Pfam PF04281 http://pfam.xfam.org/family/PF04281 PharmGKB PA38275 http://www.pharmgkb.org/do/serve?objId=PA38275&objCls=Gene Phobius swissprot:TOM22_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:TOM22_HUMAN PhylomeDB Q9NS69 http://phylomedb.org/?seqid=Q9NS69 ProteinModelPortal Q9NS69 http://www.proteinmodelportal.org/query/uniprot/Q9NS69 PubMed 10900208 http://www.ncbi.nlm.nih.gov/pubmed/10900208 PubMed 10982837 http://www.ncbi.nlm.nih.gov/pubmed/10982837 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15461802 http://www.ncbi.nlm.nih.gov/pubmed/15461802 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 17081983 http://www.ncbi.nlm.nih.gov/pubmed/17081983 PubMed 18331822 http://www.ncbi.nlm.nih.gov/pubmed/18331822 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 19413330 http://www.ncbi.nlm.nih.gov/pubmed/19413330 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 21406692 http://www.ncbi.nlm.nih.gov/pubmed/21406692 PubMed 22223895 http://www.ncbi.nlm.nih.gov/pubmed/22223895 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 Reactome R-HSA-1268020 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1268020 Reactome R-HSA-5205685 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5205685 RefSeq NP_064628 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_064628 STRING 9606.ENSP00000216034 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000216034&targetmode=cogs UCSC uc003awe http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003awe&org=rat UniGene Hs.595072 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.595072 UniProtKB TOM22_HUMAN http://www.uniprot.org/uniprot/TOM22_HUMAN UniProtKB-AC Q9NS69 http://www.uniprot.org/uniprot/Q9NS69 charge swissprot:TOM22_HUMAN http://rest.g-language.org/emboss/charge/swissprot:TOM22_HUMAN eggNOG ENOG41122K3 http://eggnogapi.embl.de/nog_data/html/tree/ENOG41122K3 eggNOG KOG4111 http://eggnogapi.embl.de/nog_data/html/tree/KOG4111 epestfind swissprot:TOM22_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:TOM22_HUMAN garnier swissprot:TOM22_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:TOM22_HUMAN helixturnhelix swissprot:TOM22_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:TOM22_HUMAN hmoment swissprot:TOM22_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:TOM22_HUMAN iep swissprot:TOM22_HUMAN http://rest.g-language.org/emboss/iep/swissprot:TOM22_HUMAN inforesidue swissprot:TOM22_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:TOM22_HUMAN neXtProt NX_Q9NS69 http://www.nextprot.org/db/entry/NX_Q9NS69 octanol swissprot:TOM22_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:TOM22_HUMAN pepcoil swissprot:TOM22_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:TOM22_HUMAN pepdigest swissprot:TOM22_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:TOM22_HUMAN pepinfo swissprot:TOM22_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:TOM22_HUMAN pepnet swissprot:TOM22_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:TOM22_HUMAN pepstats swissprot:TOM22_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:TOM22_HUMAN pepwheel swissprot:TOM22_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:TOM22_HUMAN pepwindow swissprot:TOM22_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:TOM22_HUMAN sigcleave swissprot:TOM22_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:TOM22_HUMAN ## Database ID URL or Descriptions # AltName MOT4_HUMAN Solute carrier family 16 member 3 # BioGrid 114571 8 # CAUTION Was initially assigned as monocarboxylate transporter 3 (MCT3) (PubMed:9425115). However, it was later shown that it corresponds to monocarboxylate transporter 4 (MCT4). {ECO 0000305|PubMed:9425115}. # CDD cd06174 MFS # ChiTaRS SLC16A3 human # DrugBank DB00119 Pyruvic acid # DrugBank DB00627 Niacin # DrugBank DB01440 Gamma Hydroxybutyric Acid # DrugBank DB04398 Lactic Acid # Ensembl ENST00000392339 ENSP00000376150; ENSG00000141526 # Ensembl ENST00000392341 ENSP00000376152; ENSG00000141526 # Ensembl ENST00000581287 ENSP00000463978; ENSG00000141526 # Ensembl ENST00000582743 ENSP00000462405; ENSG00000141526 # Ensembl ENST00000617373 ENSP00000483212; ENSG00000141526 # Ensembl ENST00000619321 ENSP00000482013; ENSG00000141526 # ExpressionAtlas O15427 baseline and differential # FUNCTION MOT4_HUMAN Proton-linked monocarboxylate transporter. Catalyzes the rapid transport across the plasma membrane of many monocarboxylates such as lactate, pyruvate, branched-chain oxo acids derived from leucine, valine and isoleucine, and the ketone bodies acetoacetate, beta-hydroxybutyrate and acetate (By similarity). {ECO 0000250}. # GO_component GO:0005886 plasma membrane; IDA:HPA. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0015629 actin cytoskeleton; IDA:HPA. # GO_component GO:0016020 membrane; TAS:ProtInc. # GO_component GO:0031965 nuclear membrane; IDA:HPA. # GO_function GO:0008028 monocarboxylic acid transmembrane transporter activity; TAS:Reactome. # GO_function GO:0015129 lactate transmembrane transporter activity; EXP:Reactome. # GO_function GO:0015293 symporter activity; IEA:UniProtKB-KW. # GO_function GO:0044822 poly(A) RNA binding; IDA:UniProtKB. # GO_process GO:0006090 pyruvate metabolic process; TAS:Reactome. # GO_process GO:0015718 monocarboxylic acid transport; TAS:ProtInc. # GO_process GO:0035879 plasma membrane lactate transport; IBA:GO_Central. # GO_process GO:0050900 leukocyte migration; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005856 cytoskeleton # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003723 RNA binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0002376 immune system process # GOslim_process GO:0006810 transport # GOslim_process GO:0044281 small molecule metabolic process # GOslim_process GO:0048870 cell motility # GOslim_process GO:0055085 transmembrane transport # Genevisible O15427 HS # HGNC HGNC:10924 SLC16A3 # INTERACTION MOT4_HUMAN Q8N9N5 BANP; NbExp=3; IntAct=EBI-7600166, EBI-744695; Q8IZU0 FAM9B; NbExp=3; IntAct=EBI-7600166, EBI-10175124; Q86WQ0 NR2C2AP; NbExp=3; IntAct=EBI-7600166, EBI-10260040; # IntAct O15427 15 # InterPro IPR004743 MCT # InterPro IPR011701 MFS # InterPro IPR020846 MFS_dom # InterPro IPR030756 MCT4 # KEGG_Brite ko02000 Transporters # KEGG_Brite ko02001 Solute carrier family # MIM 603877 gene # Organism MOT4_HUMAN Homo sapiens (Human) # PANTHER PTHR11360:SF27 PTHR11360:SF27 # PROSITE PS50850 MFS # Pfam PF07690 MFS_1 # Proteomes UP000005640 Chromosome 17 # Reactome R-HSA-210991 Basigin interactions # Reactome R-HSA-433692 Proton-coupled monocarboxylate transport # Reactome R-HSA-70268 Pyruvate metabolism # RecName MOT4_HUMAN Monocarboxylate transporter 4 # RefSeq NP_001035887 NM_001042422.2 # RefSeq NP_001035888 NM_001042423.2 # RefSeq NP_001193879 NM_001206950.1 # RefSeq NP_001193880 NM_001206951.1 # RefSeq NP_001193881 NM_001206952.1 # RefSeq NP_004198 NM_004207.3 # RefSeq XP_011521909 XM_011523607.1 # SIMILARITY Belongs to the major facilitator superfamily. Monocarboxylate porter (TC 2.A.1.13) family. {ECO 0000305}. # SUBCELLULAR LOCATION MOT4_HUMAN Cell membrane; Multi-pass membrane protein. # SUPFAM SSF103473 SSF103473 # TCDB 2.A.1.13 the major facilitator superfamily (mfs) # TIGRFAMs TIGR00892 2A0113 # TISSUE SPECIFICITY MOT4_HUMAN Highly expressed in skeletal muscle. # UCSC uc002keb human # WEB RESOURCE MOT4_HUMAN Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http //atlasgeneticsoncology.org/Genes/SLC16A3ID44573ch17q25.html"; # eggNOG ENOG410IMVU Eukaryota # eggNOG ENOG4111A50 LUCA BLAST swissprot:MOT4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:MOT4_HUMAN BioCyc ZFISH:ENSG00000141526-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000141526-MONOMER COXPRESdb 9123 http://coxpresdb.jp/data/gene/9123.shtml CleanEx HS_SLC16A3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC16A3 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1016/j.cell.2006.09.026 http://dx.doi.org/10.1016/j.cell.2006.09.026 DOI 10.1016/j.molcel.2008.07.007 http://dx.doi.org/10.1016/j.molcel.2008.07.007 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1042/bj3290321 http://dx.doi.org/10.1042/bj3290321 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DrugBank DB00119 http://www.drugbank.ca/drugs/DB00119 DrugBank DB00627 http://www.drugbank.ca/drugs/DB00627 DrugBank DB01440 http://www.drugbank.ca/drugs/DB01440 DrugBank DB04398 http://www.drugbank.ca/drugs/DB04398 EMBL AK127319 http://www.ebi.ac.uk/ena/data/view/AK127319 EMBL BC112267 http://www.ebi.ac.uk/ena/data/view/BC112267 EMBL BC112269 http://www.ebi.ac.uk/ena/data/view/BC112269 EMBL U81800 http://www.ebi.ac.uk/ena/data/view/U81800 Ensembl ENST00000392339 http://www.ensembl.org/id/ENST00000392339 Ensembl ENST00000392341 http://www.ensembl.org/id/ENST00000392341 Ensembl ENST00000581287 http://www.ensembl.org/id/ENST00000581287 Ensembl ENST00000582743 http://www.ensembl.org/id/ENST00000582743 Ensembl ENST00000617373 http://www.ensembl.org/id/ENST00000617373 Ensembl ENST00000619321 http://www.ensembl.org/id/ENST00000619321 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0015629 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015629 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0031965 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031965 GO_function GO:0008028 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008028 GO_function GO:0015129 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015129 GO_function GO:0015293 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015293 GO_function GO:0044822 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044822 GO_process GO:0006090 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006090 GO_process GO:0015718 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015718 GO_process GO:0035879 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035879 GO_process GO:0050900 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050900 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005856 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003723 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003723 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0002376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002376 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GOslim_process GO:0048870 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048870 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC16A3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC16A3 GeneID 9123 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=9123 GeneTree ENSGT00760000118926 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118926 HGNC HGNC:10924 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10924 HOGENOM HOG000280688 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000280688&db=HOGENOM6 HOVERGEN HBG006384 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG006384&db=HOVERGEN HPA CAB017490 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB017490 HPA HPA021451 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA021451 InParanoid O15427 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O15427 IntAct O15427 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O15427* InterPro IPR004743 http://www.ebi.ac.uk/interpro/entry/IPR004743 InterPro IPR011701 http://www.ebi.ac.uk/interpro/entry/IPR011701 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 InterPro IPR030756 http://www.ebi.ac.uk/interpro/entry/IPR030756 Jabion 9123 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=9123 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:9123 http://www.genome.jp/dbget-bin/www_bget?hsa:9123 KEGG_Orthology KO:K08180 http://www.genome.jp/dbget-bin/www_bget?KO:K08180 MIM 603877 http://www.ncbi.nlm.nih.gov/omim/603877 MINT MINT-4526381 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-4526381 OMA MGVPDTK http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=MGVPDTK OrthoDB EOG091G05SW http://cegg.unige.ch/orthodb/results?searchtext=EOG091G05SW PANTHER PTHR11360:SF27 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11360:SF27 PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PSORT swissprot:MOT4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:MOT4_HUMAN PSORT-B swissprot:MOT4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:MOT4_HUMAN PSORT2 swissprot:MOT4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:MOT4_HUMAN Pfam PF07690 http://pfam.xfam.org/family/PF07690 PharmGKB PA35815 http://www.pharmgkb.org/do/serve?objId=PA35815&objCls=Gene Phobius swissprot:MOT4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:MOT4_HUMAN PhylomeDB O15427 http://phylomedb.org/?seqid=O15427 ProteinModelPortal O15427 http://www.proteinmodelportal.org/query/uniprot/O15427 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 17081983 http://www.ncbi.nlm.nih.gov/pubmed/17081983 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 18691976 http://www.ncbi.nlm.nih.gov/pubmed/18691976 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 9425115 http://www.ncbi.nlm.nih.gov/pubmed/9425115 Reactome R-HSA-210991 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-210991 Reactome R-HSA-433692 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-433692 Reactome R-HSA-70268 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-70268 RefSeq NP_001035887 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001035887 RefSeq NP_001035888 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001035888 RefSeq NP_001193879 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001193879 RefSeq NP_001193880 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001193880 RefSeq NP_001193881 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001193881 RefSeq NP_004198 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004198 RefSeq XP_011521909 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011521909 STRING 9606.ENSP00000376150 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000376150&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.1.13 http://www.tcdb.org/search/result.php?tc=2.A.1.13 TIGRFAMs TIGR00892 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00892 UCSC uc002keb http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002keb&org=rat UniGene Hs.500761 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.500761 UniProtKB MOT4_HUMAN http://www.uniprot.org/uniprot/MOT4_HUMAN UniProtKB-AC O15427 http://www.uniprot.org/uniprot/O15427 charge swissprot:MOT4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:MOT4_HUMAN eggNOG ENOG410IMVU http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IMVU eggNOG ENOG4111A50 http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111A50 epestfind swissprot:MOT4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:MOT4_HUMAN garnier swissprot:MOT4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:MOT4_HUMAN helixturnhelix swissprot:MOT4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:MOT4_HUMAN hmoment swissprot:MOT4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:MOT4_HUMAN iep swissprot:MOT4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:MOT4_HUMAN inforesidue swissprot:MOT4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:MOT4_HUMAN neXtProt NX_O15427 http://www.nextprot.org/db/entry/NX_O15427 octanol swissprot:MOT4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:MOT4_HUMAN pepcoil swissprot:MOT4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:MOT4_HUMAN pepdigest swissprot:MOT4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:MOT4_HUMAN pepinfo swissprot:MOT4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:MOT4_HUMAN pepnet swissprot:MOT4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:MOT4_HUMAN pepstats swissprot:MOT4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:MOT4_HUMAN pepwheel swissprot:MOT4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:MOT4_HUMAN pepwindow swissprot:MOT4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:MOT4_HUMAN sigcleave swissprot:MOT4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:MOT4_HUMAN ## Database ID URL or Descriptions # AltName CLD16_HUMAN Paracellin-1 # DISEASE CLD16_HUMAN Hypomagnesemia 3 (HOMG3) [MIM 248250] A progressive renal disease characterized by primary renal magnesium wasting with hypomagnesemia, hypercalciuria and nephrocalcinosis. Recurrent urinary tract infections and kidney stones are often observed. In spite of hypercalciuria, patients do not show hypocalcemia. {ECO 0000269|PubMed 10390358, ECO 0000269|PubMed 10878661, ECO 0000269|PubMed 11518780}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000264734 ENSP00000264734; ENSG00000113946 # ExpressionAtlas Q9Y5I7 baseline and differential # FUNCTION CLD16_HUMAN Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium- independent cell-adhesion activity. Involved in paracellular magnesium reabsorption. Required for a selective paracellular conductance. May form, alone or in partnership with other constituents, an intercellular pore permitting paracellular passage of magnesium and calcium ions down their electrochemical gradients. Alternatively, it could be a sensor of magnesium concentration that could alter paracellular permeability mediated by other factors. # GO_component GO:0005886 plasma membrane; IEA:UniProtKB-SubCell. # GO_component GO:0005923 bicellular tight junction; ISS:UniProtKB. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0005198 structural molecule activity; IEA:InterPro. # GO_function GO:0015095 magnesium ion transmembrane transporter activity; TAS:ProtInc. # GO_function GO:0042802 identical protein binding; ISS:UniProtKB. # GO_process GO:0006875 cellular metal ion homeostasis; TAS:ProtInc. # GO_process GO:0007588 excretion; TAS:ProtInc. # GO_process GO:0016338 calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules; ISS:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0005198 structural molecule activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0007155 cell adhesion # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # Genevisible Q9Y5I7 HS # HGNC HGNC:2037 CLDN16 # INTERACTION CLD16_HUMAN Q9Z0S3 Cldn14 (xeno); NbExp=3; IntAct=EBI-7774981, EBI-7774956; # IntAct Q9Y5I7 2 # InterPro IPR003927 Claudin16 # InterPro IPR004031 PMP22/EMP/MP20/Claudin # InterPro IPR006187 Claudin # InterPro IPR017974 Claudin_CS # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04516 Cell adhesion molecules and their ligands # KEGG_Disease H01210 [Inherited metabolic disease] Hypomagnesemia # KEGG_Pathway ko04514 Cell adhesion molecules (CAMs) # KEGG_Pathway ko04530 Tight junction # KEGG_Pathway ko04670 Leukocyte transendothelial migration # KEGG_Pathway ko05160 Hepatitis C # MIM 248250 phenotype # MIM 603959 gene # Organism CLD16_HUMAN Homo sapiens (Human) # Orphanet 31043 Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement # PANTHER PTHR12002 PTHR12002 # PANTHER PTHR12002:SF56 PTHR12002:SF56 # PRINTS PR01447 CLAUDIN16 # PROSITE PS01346 CLAUDIN # Pfam PF00822 PMP22_Claudin # Proteomes UP000005640 Chromosome 3 # Reactome R-HSA-420029 Tight junction interactions # RecName CLD16_HUMAN Claudin-16 # RefSeq NP_006571 NM_006580.3 # SIMILARITY Belongs to the claudin family. {ECO 0000305}. # SUBCELLULAR LOCATION CLD16_HUMAN Cell junction, tight junction. Cell membrane; Multi-pass membrane protein. # TCDB 1.H.1.1 the claudin tight junction (claudin1) family # TISSUE SPECIFICITY CLD16_HUMAN Kidney-specific, including the thick ascending limb of Henle (TAL). # UCSC uc003fsi human # eggNOG ENOG410IEIE Eukaryota # eggNOG ENOG410XP0E LUCA BLAST swissprot:CLD16_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CLD16_HUMAN BioCyc ZFISH:ENSG00000113946-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000113946-MONOMER COXPRESdb 10686 http://coxpresdb.jp/data/gene/10686.shtml CleanEx HS_CLDN16 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CLDN16 DIP DIP-48951N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-48951N DOI 10.1038/sj.ejhg.5200475 http://dx.doi.org/10.1038/sj.ejhg.5200475 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.285.5424.103 http://dx.doi.org/10.1126/science.285.5424.103 EMBL AF152101 http://www.ebi.ac.uk/ena/data/view/AF152101 EMBL BC069662 http://www.ebi.ac.uk/ena/data/view/BC069662 EMBL BC069682 http://www.ebi.ac.uk/ena/data/view/BC069682 EMBL BC069759 http://www.ebi.ac.uk/ena/data/view/BC069759 EMBL BC069777 http://www.ebi.ac.uk/ena/data/view/BC069777 Ensembl ENST00000264734 http://www.ensembl.org/id/ENST00000264734 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005923 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005923 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005198 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005198 GO_function GO:0015095 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015095 GO_function GO:0042802 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042802 GO_process GO:0006875 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006875 GO_process GO:0007588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007588 GO_process GO:0016338 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016338 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0005198 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005198 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0007155 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007155 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GeneCards CLDN16 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CLDN16 GeneID 10686 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=10686 GeneTree ENSGT00730000111162 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00730000111162 HGNC HGNC:2037 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:2037 HOGENOM HOG000111787 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000111787&db=HOGENOM6 HOVERGEN HBG050987 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050987&db=HOVERGEN HPA HPA056020 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA056020 InParanoid Q9Y5I7 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9Y5I7 IntAct Q9Y5I7 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9Y5I7* InterPro IPR003927 http://www.ebi.ac.uk/interpro/entry/IPR003927 InterPro IPR004031 http://www.ebi.ac.uk/interpro/entry/IPR004031 InterPro IPR006187 http://www.ebi.ac.uk/interpro/entry/IPR006187 InterPro IPR017974 http://www.ebi.ac.uk/interpro/entry/IPR017974 Jabion 10686 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=10686 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04516 http://www.genome.jp/dbget-bin/www_bget?ko04516 KEGG_Disease H01210 http://www.genome.jp/dbget-bin/www_bget?H01210 KEGG_Gene hsa:10686 http://www.genome.jp/dbget-bin/www_bget?hsa:10686 KEGG_Orthology KO:K06087 http://www.genome.jp/dbget-bin/www_bget?KO:K06087 KEGG_Pathway ko04514 http://www.genome.jp/kegg-bin/show_pathway?ko04514 KEGG_Pathway ko04530 http://www.genome.jp/kegg-bin/show_pathway?ko04530 KEGG_Pathway ko04670 http://www.genome.jp/kegg-bin/show_pathway?ko04670 KEGG_Pathway ko05160 http://www.genome.jp/kegg-bin/show_pathway?ko05160 MIM 248250 http://www.ncbi.nlm.nih.gov/omim/248250 MIM 603959 http://www.ncbi.nlm.nih.gov/omim/603959 MINT MINT-8387823 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-8387823 OMA YAVDTRV http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=YAVDTRV Orphanet 31043 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=31043 OrthoDB EOG091G0MX2 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0MX2 PANTHER PTHR12002 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12002 PANTHER PTHR12002:SF56 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12002:SF56 PRINTS PR01447 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01447 PROSITE PS01346 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS01346 PSORT swissprot:CLD16_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CLD16_HUMAN PSORT-B swissprot:CLD16_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CLD16_HUMAN PSORT2 swissprot:CLD16_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CLD16_HUMAN Pfam PF00822 http://pfam.xfam.org/family/PF00822 PharmGKB PA26563 http://www.pharmgkb.org/do/serve?objId=PA26563&objCls=Gene Phobius swissprot:CLD16_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CLD16_HUMAN PhylomeDB Q9Y5I7 http://phylomedb.org/?seqid=Q9Y5I7 ProteinModelPortal Q9Y5I7 http://www.proteinmodelportal.org/query/uniprot/Q9Y5I7 PubMed 10390358 http://www.ncbi.nlm.nih.gov/pubmed/10390358 PubMed 10878661 http://www.ncbi.nlm.nih.gov/pubmed/10878661 PubMed 11518780 http://www.ncbi.nlm.nih.gov/pubmed/11518780 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 Reactome R-HSA-420029 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-420029 RefSeq NP_006571 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_006571 STRING 9606.ENSP00000264734 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000264734&targetmode=cogs TCDB 1.H.1.1 http://www.tcdb.org/search/result.php?tc=1.H.1.1 UCSC uc003fsi http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003fsi&org=rat UniGene Hs.251391 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.251391 UniProtKB CLD16_HUMAN http://www.uniprot.org/uniprot/CLD16_HUMAN UniProtKB-AC Q9Y5I7 http://www.uniprot.org/uniprot/Q9Y5I7 charge swissprot:CLD16_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CLD16_HUMAN eggNOG ENOG410IEIE http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IEIE eggNOG ENOG410XP0E http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XP0E epestfind swissprot:CLD16_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CLD16_HUMAN garnier swissprot:CLD16_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CLD16_HUMAN helixturnhelix swissprot:CLD16_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CLD16_HUMAN hmoment swissprot:CLD16_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CLD16_HUMAN iep swissprot:CLD16_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CLD16_HUMAN inforesidue swissprot:CLD16_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CLD16_HUMAN neXtProt NX_Q9Y5I7 http://www.nextprot.org/db/entry/NX_Q9Y5I7 octanol swissprot:CLD16_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CLD16_HUMAN pepcoil swissprot:CLD16_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CLD16_HUMAN pepdigest swissprot:CLD16_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CLD16_HUMAN pepinfo swissprot:CLD16_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CLD16_HUMAN pepnet swissprot:CLD16_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CLD16_HUMAN pepstats swissprot:CLD16_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CLD16_HUMAN pepwheel swissprot:CLD16_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CLD16_HUMAN pepwindow swissprot:CLD16_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CLD16_HUMAN sigcleave swissprot:CLD16_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CLD16_HUMAN ## Database ID URL or Descriptions # AltName KCJ16_HUMAN Inward rectifier K(+) channel Kir5.1 # AltName KCJ16_HUMAN Potassium channel, inwardly rectifying subfamily J member 16 # Ensembl ENST00000283936 ENSP00000283936; ENSG00000153822 # Ensembl ENST00000392670 ENSP00000376438; ENSG00000153822 # Ensembl ENST00000392671 ENSP00000376439; ENSG00000153822 # Ensembl ENST00000589377 ENSP00000465967; ENSG00000153822 # Ensembl ENST00000615244 ENSP00000479817; ENSG00000153822 # ExpressionAtlas Q9NPI9 baseline and differential # FUNCTION KCJ16_HUMAN Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. KCNJ16 may be involved in the regulation of fluid and pH balance. In the kidney, together with KCNJ10, mediates basolateral K(+) recycling in distal tubules; this process is critical for Na(+) reabsorption at the tubules (PubMed 24561201). {ECO 0000305|PubMed 24561201}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0008076 voltage-gated potassium channel complex; NAS:UniProtKB. # GO_component GO:0016323 basolateral plasma membrane; IEA:UniProtKB-SubCell. # GO_function GO:0005242 inward rectifier potassium channel activity; NAS:UniProtKB. # GO_function GO:0015467 G-protein activated inward rectifier potassium channel activity; TAS:Reactome. # GO_process GO:0006813 potassium ion transport; NAS:UniProtKB. # GO_process GO:0010107 potassium ion import; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0055085 transmembrane transport # Gene3D 2.60.40.1400 -; 1. # Genevisible Q9NPI9 HS # HGNC HGNC:6262 KCNJ16 # IntAct Q9NPI9 2 # InterPro IPR008061 K_chnl_inward-rec_Kir5 # InterPro IPR013518 K_chnl_inward-rec_Kir_cyto # InterPro IPR014756 Ig_E-set # InterPro IPR016449 K_chnl_inward-rec_Kir # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04971 Gastric acid secretion # MIM 605722 gene # Organism KCJ16_HUMAN Homo sapiens (Human) # PANTHER PTHR11767 PTHR11767 # PANTHER PTHR11767:SF24 PTHR11767:SF24 # PIRSF PIRSF005465 GIRK_kir # PRINTS PR01320 KIRCHANNEL # PRINTS PR01678 KIR5CHANNEL # Pfam PF01007 IRK # Proteomes UP000005640 Chromosome 17 # Reactome R-HSA-1296041 Activation of G protein gated Potassium channels # Reactome R-HSA-1296067 Potassium transport channels # Reactome R-HSA-997272 Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits # RecName KCJ16_HUMAN Inward rectifier potassium channel 16 # RefSeq NP_001257351 NM_001270422.1 # RefSeq NP_001278551 NM_001291622.1 # RefSeq NP_001278552 NM_001291623.1 # RefSeq NP_001278553 NM_001291624.1 # RefSeq NP_001278554 NM_001291625.1 # RefSeq NP_061128 NM_018658.2 # RefSeq NP_733937 NM_170741.2 # RefSeq NP_733938 NM_170742.2 # RefSeq XP_011523083 XM_011524781.2 # RefSeq XP_016880102 XM_017024613.1 # SIMILARITY Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ16 subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION KCJ16_HUMAN Membrane {ECO 0000269|PubMed 24561201}; Multi-pass membrane protein. Basolateral cell membrane {ECO 0000269|PubMed 24561201}. Note=In kidney distal convoluted tubules, located in the basolateral membrane in the presence of KCNJ10. {ECO 0000269|PubMed 24561201}. # SUBUNIT KCJ16_HUMAN Heterodimer with Kir4.1/KCNJ10; this interaction is required for KCNJ16 localization to the basolateral membrane in kidney cells. As a heterodimer with KCNJ10, may interact with MAGI1; this interaction may facilitate KCNJ10/KCNJ16 potassium channel expression at the basolateral membrane in kidney cells (PubMed 24561201). May form heterodimers with Kir2.1/KCNJ2 (Probable). {ECO 0000269|PubMed 24561201, ECO 0000305|PubMed 11240146}. # SUPFAM SSF81296 SSF81296 # TCDB 1.A.2.1.11 inward rectifier k(+) channel (irk-c) family # TISSUE SPECIFICITY KCJ16_HUMAN Widely expressed, with highest levels in adult and fetal kidney (at protein level). In the kidney, expressed in the proximal and distal convoluted tubules, but not in glomeruli nor collecting ducts. {ECO 0000269|PubMed 11060447, ECO 0000269|PubMed 11240146, ECO 0000269|PubMed 24561201}. # UCSC uc002jin human # eggNOG ENOG410XQ62 LUCA # eggNOG KOG3827 Eukaryota BLAST swissprot:KCJ16_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCJ16_HUMAN BioCyc ZFISH:ENSG00000153822-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000153822-MONOMER COXPRESdb 3773 http://coxpresdb.jp/data/gene/3773.shtml CleanEx HS_KCNJ16 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNJ16 DOI 10.1016/S0014-5793(01)02202-5 http://dx.doi.org/10.1016/S0014-5793(01)02202-5 DOI 10.1016/j.febslet.2014.02.024 http://dx.doi.org/10.1016/j.febslet.2014.02.024 EMBL AF153814 http://www.ebi.ac.uk/ena/data/view/AF153814 EMBL AF153815 http://www.ebi.ac.uk/ena/data/view/AF153815 EMBL AF153816 http://www.ebi.ac.uk/ena/data/view/AF153816 EMBL AF153817 http://www.ebi.ac.uk/ena/data/view/AF153817 EMBL AF179353 http://www.ebi.ac.uk/ena/data/view/AF179353 Ensembl ENST00000283936 http://www.ensembl.org/id/ENST00000283936 Ensembl ENST00000392670 http://www.ensembl.org/id/ENST00000392670 Ensembl ENST00000392671 http://www.ensembl.org/id/ENST00000392671 Ensembl ENST00000589377 http://www.ensembl.org/id/ENST00000589377 Ensembl ENST00000615244 http://www.ensembl.org/id/ENST00000615244 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0008076 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008076 GO_component GO:0016323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016323 GO_function GO:0005242 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005242 GO_function GO:0015467 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015467 GO_process GO:0006813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006813 GO_process GO:0010107 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010107 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 2.60.40.1400 http://www.cathdb.info/version/latest/superfamily/2.60.40.1400 GeneCards KCNJ16 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNJ16 GeneID 3773 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=3773 GeneTree ENSGT00760000118842 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118842 HGNC HGNC:6262 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6262 HOGENOM HOG000237325 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000237325&db=HOGENOM6 HOVERGEN HBG006178 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG006178&db=HOVERGEN HPA HPA059563 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA059563 InParanoid Q9NPI9 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9NPI9 IntAct Q9NPI9 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9NPI9* InterPro IPR008061 http://www.ebi.ac.uk/interpro/entry/IPR008061 InterPro IPR013518 http://www.ebi.ac.uk/interpro/entry/IPR013518 InterPro IPR014756 http://www.ebi.ac.uk/interpro/entry/IPR014756 InterPro IPR016449 http://www.ebi.ac.uk/interpro/entry/IPR016449 Jabion 3773 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=3773 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:3773 http://www.genome.jp/dbget-bin/www_bget?hsa:3773 KEGG_Orthology KO:K05009 http://www.genome.jp/dbget-bin/www_bget?KO:K05009 KEGG_Pathway ko04971 http://www.genome.jp/kegg-bin/show_pathway?ko04971 MIM 605722 http://www.ncbi.nlm.nih.gov/omim/605722 PANTHER PTHR11767 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11767 PANTHER PTHR11767:SF24 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11767:SF24 PRINTS PR01320 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01320 PRINTS PR01678 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01678 PSORT swissprot:KCJ16_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCJ16_HUMAN PSORT-B swissprot:KCJ16_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCJ16_HUMAN PSORT2 swissprot:KCJ16_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCJ16_HUMAN Pfam PF01007 http://pfam.xfam.org/family/PF01007 PharmGKB PA30047 http://www.pharmgkb.org/do/serve?objId=PA30047&objCls=Gene Phobius swissprot:KCJ16_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCJ16_HUMAN PhylomeDB Q9NPI9 http://phylomedb.org/?seqid=Q9NPI9 ProteinModelPortal Q9NPI9 http://www.proteinmodelportal.org/query/uniprot/Q9NPI9 PubMed 11060447 http://www.ncbi.nlm.nih.gov/pubmed/11060447 PubMed 11240146 http://www.ncbi.nlm.nih.gov/pubmed/11240146 PubMed 24561201 http://www.ncbi.nlm.nih.gov/pubmed/24561201 Reactome R-HSA-1296041 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1296041 Reactome R-HSA-1296067 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1296067 Reactome R-HSA-997272 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-997272 RefSeq NP_001257351 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001257351 RefSeq NP_001278551 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001278551 RefSeq NP_001278552 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001278552 RefSeq NP_001278553 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001278553 RefSeq NP_001278554 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001278554 RefSeq NP_061128 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_061128 RefSeq NP_733937 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_733937 RefSeq NP_733938 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_733938 RefSeq XP_011523083 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011523083 RefSeq XP_016880102 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016880102 SMR Q9NPI9 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9NPI9 STRING 9606.ENSP00000283936 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000283936&targetmode=cogs SUPFAM SSF81296 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81296 TCDB 1.A.2.1.11 http://www.tcdb.org/search/result.php?tc=1.A.2.1.11 UCSC uc002jin http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002jin&org=rat UniGene Hs.463985 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.463985 UniProtKB KCJ16_HUMAN http://www.uniprot.org/uniprot/KCJ16_HUMAN UniProtKB-AC Q9NPI9 http://www.uniprot.org/uniprot/Q9NPI9 charge swissprot:KCJ16_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCJ16_HUMAN eggNOG ENOG410XQ62 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XQ62 eggNOG KOG3827 http://eggnogapi.embl.de/nog_data/html/tree/KOG3827 epestfind swissprot:KCJ16_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCJ16_HUMAN garnier swissprot:KCJ16_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCJ16_HUMAN helixturnhelix swissprot:KCJ16_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCJ16_HUMAN hmoment swissprot:KCJ16_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCJ16_HUMAN iep swissprot:KCJ16_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCJ16_HUMAN inforesidue swissprot:KCJ16_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCJ16_HUMAN neXtProt NX_Q9NPI9 http://www.nextprot.org/db/entry/NX_Q9NPI9 octanol swissprot:KCJ16_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCJ16_HUMAN pepcoil swissprot:KCJ16_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCJ16_HUMAN pepdigest swissprot:KCJ16_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCJ16_HUMAN pepinfo swissprot:KCJ16_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCJ16_HUMAN pepnet swissprot:KCJ16_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCJ16_HUMAN pepstats swissprot:KCJ16_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCJ16_HUMAN pepwheel swissprot:KCJ16_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCJ16_HUMAN pepwindow swissprot:KCJ16_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCJ16_HUMAN sigcleave swissprot:KCJ16_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCJ16_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS ITAV_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=P06756-1; Sequence=Displayed; Name=2; IsoId=P06756-2; Sequence=VSP_024351; Note=No experimental confirmation available.; Name=3; IsoId=P06756-3; Sequence=VSP_044914; Note=No experimental confirmation available.; # AltName ITAV_HUMAN CD51 # AltName ITAV_HUMAN CD51 # AltName ITAV_HUMAN Vitronectin receptor subunit alpha # BioGrid 109891 45 # CCDS CCDS2292 -. [P06756-1] # CCDS CCDS46470 -. [P06756-2] # CCDS CCDS46471 -. [P06756-3] # ChiTaRS ITGAV human # DrugBank DB00098 Anti-thymocyte Globulin (Rabbit) # Ensembl ENST00000261023 ENSP00000261023; ENSG00000138448. [P06756-1] # Ensembl ENST00000374907 ENSP00000364042; ENSG00000138448. [P06756-2] # Ensembl ENST00000433736 ENSP00000404291; ENSG00000138448. [P06756-3] # ExpressionAtlas P06756 baseline and differential # FUNCTION ITAV_HUMAN (Microbial infection) Integrin ITGAV ITGB5 acts as a receptor for adenovirus type C (PubMed 20615244). Integrin ITGAV ITGB5 and ITGAV ITGB3 act as receptors for coxsackievirus A9 and B1 (PubMed 9426447, PubMed 15194773, PubMed 7519807). Integrin ITGAV ITGB3 acts as a receptor for herpes virus 8/HHV-8 (PubMed 18045938). Integrin ITGAV ITGB6 acts as a receptor for herpes simplex 1/HHV-1 (PubMed 24367260). Integrin ITGAV ITGB3 acts as a receptor for Human parechovirus 1 (PubMed 11160695). Integrin ITGAV ITGB3 acts as a receptor for West nile virus (PubMed 23658209). In case of HIV-1 infection, the interaction with extracellular viral Tat protein seems to enhance angiogenesis in Kaposi's sarcoma lesions (PubMed 10397733). {ECO 0000269|PubMed 10397733, ECO 0000269|PubMed 11160695, ECO 0000269|PubMed 15194773, ECO 0000269|PubMed 18045938, ECO 0000269|PubMed 20615244, ECO 0000269|PubMed 23658209, ECO 0000269|PubMed 24367260, ECO 0000269|PubMed 7519807, ECO 0000269|PubMed 9426447}. # FUNCTION ITAV_HUMAN The alpha-V (ITGAV) integrins are receptors for vitronectin, cytotactin, fibronectin, fibrinogen, laminin, matrix metalloproteinase-2, osteopontin, osteomodulin, prothrombin, thrombospondin and vWF. They recognize the sequence R-G-D in a wide array of ligands. ITGAV ITGB3 binds to fractalkine (CX3CL1) and may act as its coreceptor in CX3CR1-dependent fractalkine signaling (PubMed 23125415). ITGAV ITGB3 binds to NRG1 (via EGF domain) and this binding is essential for NRG1-ERBB signaling (PubMed 20682778). ITGAV ITGB3 binds to FGF1 and this binding is essential for FGF1 signaling (PubMed 18441324). ITGAV ITGB3 binds to IGF1 and this binding is essential for IGF1 signaling (PubMed 19578119). ITGAV ITGB3 binds to PLA2G2A via a site (site 2) which is distinct from the classical ligand-binding site (site 1) and this induces integrin conformational changes and enhanced ligand binding to site 1 (PubMed 18635536, PubMed 25398877). ITGAV ITGB3 and ITGAV ITGB6 act as a receptor for fibrillin-1 (FBN1) and mediate R-G-D-dependent cell adhesion to FBN1 (PubMed 12807887, PubMed 17158881). {ECO 0000269|PubMed 12807887, ECO 0000269|PubMed 17158881, ECO 0000269|PubMed 18441324, ECO 0000269|PubMed 18635536, ECO 0000269|PubMed 19578119, ECO 0000269|PubMed 20682778, ECO 0000269|PubMed 23125415, ECO 0000269|PubMed 25398877}. # GO_component GO:0005886 plasma membrane; IDA:BHF-UCL. # GO_component GO:0005887 integral component of plasma membrane; NAS:UniProtKB. # GO_component GO:0005925 focal adhesion; IDA:UniProtKB. # GO_component GO:0008305 integrin complex; NAS:UniProtKB. # GO_component GO:0009897 external side of plasma membrane; IEA:Ensembl. # GO_component GO:0009986 cell surface; IDA:UniProtKB. # GO_component GO:0016020 membrane; ISS:BHF-UCL. # GO_component GO:0031258 lamellipodium membrane; IDA:UniProtKB. # GO_component GO:0031527 filopodium membrane; IDA:UniProtKB. # GO_component GO:0031528 microvillus membrane; IDA:UniProtKB. # GO_component GO:0032587 ruffle membrane; IDA:UniProtKB. # GO_component GO:0034683 integrin alphav-beta3 complex; IDA:UniProtKB. # GO_component GO:0034684 integrin alphav-beta5 complex; IDA:UniProtKB. # GO_component GO:0034686 integrin alphav-beta8 complex; IDA:UniProtKB. # GO_component GO:0035867 alphav-beta3 integrin-IGF-1-IGF1R complex; IDA:BHF-UCL. # GO_component GO:0045335 phagocytic vesicle; TAS:Reactome. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0001618 virus receptor activity; IEA:UniProtKB-KW. # GO_function GO:0001968 fibronectin binding; IDA:UniProtKB. # GO_function GO:0002020 protease binding; IDA:UniProtKB. # GO_function GO:0005245 voltage-gated calcium channel activity; IDA:UniProtKB. # GO_function GO:0015026 coreceptor activity; TAS:UniProtKB. # GO_function GO:0046872 metal ion binding; IEA:UniProtKB-KW. # GO_function GO:0050431 transforming growth factor beta binding; ISS:BHF-UCL. # GO_function GO:0050840 extracellular matrix binding; IDA:UniProtKB. # GO_function GO:1990430 extracellular matrix protein binding; IDA:UniProtKB. # GO_process GO:0001525 angiogenesis; IEP:UniProtKB. # GO_process GO:0002479 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent; TAS:Reactome. # GO_process GO:0007155 cell adhesion; IDA:BHF-UCL. # GO_process GO:0007160 cell-matrix adhesion; IDA:UniProtKB. # GO_process GO:0007229 integrin-mediated signaling pathway; NAS:UniProtKB. # GO_process GO:0008284 positive regulation of cell proliferation; IDA:BHF-UCL. # GO_process GO:0010745 negative regulation of macrophage derived foam cell differentiation; IMP:BHF-UCL. # GO_process GO:0010888 negative regulation of lipid storage; IMP:BHF-UCL. # GO_process GO:0016049 cell growth; IMP:UniProtKB. # GO_process GO:0016477 cell migration; IMP:UniProtKB. # GO_process GO:0030198 extracellular matrix organization; TAS:Reactome. # GO_process GO:0030335 positive regulation of cell migration; IEA:Ensembl. # GO_process GO:0031589 cell-substrate adhesion; IMP:UniProtKB. # GO_process GO:0032369 negative regulation of lipid transport; IMP:BHF-UCL. # GO_process GO:0033627 cell adhesion mediated by integrin; IDA:UniProtKB. # GO_process GO:0033690 positive regulation of osteoblast proliferation; IEA:Ensembl. # GO_process GO:0034113 heterotypic cell-cell adhesion; IMP:UniProtKB. # GO_process GO:0034446 substrate adhesion-dependent cell spreading; IDA:UniProtKB. # GO_process GO:0035987 endodermal cell differentiation; IMP:UniProtKB. # GO_process GO:0038027 apolipoprotein A-I-mediated signaling pathway; IMP:UniProtKB. # GO_process GO:0043277 apoptotic cell clearance; IEA:Ensembl. # GO_process GO:0045715 negative regulation of low-density lipoprotein particle receptor biosynthetic process; IMP:BHF-UCL. # GO_process GO:0045785 positive regulation of cell adhesion; IDA:BHF-UCL. # GO_process GO:0046718 viral entry into host cell; IMP:UniProtKB. # GO_process GO:0048010 vascular endothelial growth factor receptor signaling pathway; TAS:Reactome. # GO_process GO:0050748 negative regulation of lipoprotein metabolic process; IMP:BHF-UCL. # GO_process GO:0050764 regulation of phagocytosis; IDA:BHF-UCL. # GO_process GO:0050900 leukocyte migration; TAS:Reactome. # GO_process GO:0050919 negative chemotaxis; IMP:UniProtKB. # GO_process GO:0052066 entry of symbiont into host cell by promotion of host phagocytosis; NAS:BHF-UCL. # GO_process GO:0070371 ERK1 and ERK2 cascade; ISS:BHF-UCL. # GO_process GO:0070588 calcium ion transmembrane transport; IDA:UniProtKB. # GO_process GO:0097192 extrinsic apoptotic signaling pathway in absence of ligand; ISS:BHF-UCL. # GO_process GO:2000425 regulation of apoptotic cell clearance; ISS:BHF-UCL. # GO_process GO:2000536 negative regulation of entry of bacterium into host cell; IDA:BHF-UCL. # GO_process GO:2001237 negative regulation of extrinsic apoptotic signaling pathway; IMP:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0031410 cytoplasmic vesicle # GOslim_component GO:0043226 organelle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0019899 enzyme binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0000902 cell morphogenesis # GOslim_process GO:0002376 immune system process # GOslim_process GO:0006464 cellular protein modification process # GOslim_process GO:0007155 cell adhesion # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0016192 vesicle-mediated transport # GOslim_process GO:0030154 cell differentiation # GOslim_process GO:0030198 extracellular matrix organization # GOslim_process GO:0040007 growth # GOslim_process GO:0040011 locomotion # GOslim_process GO:0048646 anatomical structure formation involved in morphogenesis # GOslim_process GO:0048870 cell motility # GOslim_process GO:0055085 transmembrane transport # Genevisible P06756 HS # HGNC HGNC:6150 ITGAV # INTERACTION ITAV_HUMAN P05106 ITGB3; NbExp=11; IntAct=EBI-298282, EBI-702847; P18084 ITGB5; NbExp=2; IntAct=EBI-298282, EBI-1223434; # IntAct P06756 14 # InterPro IPR000413 Integrin_alpha # InterPro IPR013517 FG-GAP # InterPro IPR013519 Int_alpha_beta-p # InterPro IPR013649 Integrin_alpha-2 # InterPro IPR018184 Integrin_alpha_C_CS # InterPro IPR032695 Integrin_dom # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04090 Cellular antigens # KEGG_Brite ko04516 Cell adhesion molecules and their ligands # KEGG_Pathway ko04145 Phagosome # KEGG_Pathway ko04151 PI3K-Akt signaling pathway # KEGG_Pathway ko04510 Focal adhesion # KEGG_Pathway ko04512 ECM-receptor interaction # KEGG_Pathway ko04514 Cell adhesion molecules (CAMs) # KEGG_Pathway ko04810 Regulation of actin cytoskeleton # KEGG_Pathway ko05200 Pathways in cancer # KEGG_Pathway ko05222 Small cell lung cancer # KEGG_Pathway ko05410 Hypertrophic cardiomyopathy (HCM) # KEGG_Pathway ko05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC) # KEGG_Pathway ko05414 Dilated cardiomyopathy # MIM 193210 gene # Organism ITAV_HUMAN Homo sapiens (Human) # PDB 1JV2 X-ray; 3.10 A; A=31-987 # PDB 1L5G X-ray; 3.20 A; A=31-987 # PDB 1M1X X-ray; 3.30 A; A=31-987 # PDB 1U8C X-ray; 3.10 A; A=31-987 # PDB 3IJE X-ray; 2.90 A; A=31-997 # PDB 4G1E X-ray; 3.00 A; A=31-989 # PDB 4G1M X-ray; 2.90 A; A=31-989 # PDB 4MMX X-ray; 3.32 A; A=31-989 # PDB 4MMY X-ray; 3.18 A; A=31-989 # PDB 4MMZ X-ray; 3.10 A; A=31-989 # PDB 4O02 X-ray; 3.60 A; A=31-992 # PDB 4UM8 X-ray; 2.85 A; A/C=31-625 # PDB 4UM9 X-ray; 2.50 A; A/C=31-625 # PIR A27421 A27421 # PRINTS PR01185 INTEGRINA # PROSITE PS00242 INTEGRIN_ALPHA # PROSITE PS51470 FG_GAP; 7 # Pfam PF00357 Integrin_alpha # Pfam PF01839 FG-GAP; 3 # Pfam PF08441 Integrin_alpha2 # Proteomes UP000005640 Chromosome 2 # Reactome R-HSA-1236973 Cross-presentation of particulate exogenous antigens (phagosomes) # Reactome R-HSA-1566948 Elastic fibre formation # Reactome R-HSA-210990 PECAM1 interactions # Reactome R-HSA-2129379 Molecules associated with elastic fibres # Reactome R-HSA-216083 Integrin cell surface interactions # Reactome R-HSA-3000157 Laminin interactions # Reactome R-HSA-3000170 Syndecan interactions # Reactome R-HSA-3000178 ECM proteoglycans # Reactome R-HSA-4420097 VEGFA-VEGFR2 Pathway # Reactome R-HSA-445144 Signal transduction by L1 # Reactome R-HSA-6798695 Neutrophil degranulation # RecName ITAV_HUMAN Integrin alpha-V # RecName ITAV_HUMAN Integrin alpha-V heavy chain # RecName ITAV_HUMAN Integrin alpha-V heavy chain # RecName ITAV_HUMAN Integrin alpha-V light chain # RefSeq NP_001138471 NM_001144999.2 # RefSeq NP_001138472 NM_001145000.2 # RefSeq NP_002201 NM_002210.4 # SEQUENCE CAUTION Sequence=BAD93131.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the integrin alpha chain family. {ECO 0000305}. # SIMILARITY Contains 7 FG-GAP repeats. {ECO:0000255|PROSITE- ProRule PRU00803}. # SMART SM00191 Int_alpha; 5 # SUBCELLULAR LOCATION ITAV_HUMAN Membrane; Single-pass type I membrane protein. Cell junction, focal adhesion {ECO 0000269|PubMed 17158881}. # SUBUNIT (Microbial infection) Integrin ITGAV:ITGB3 interacts with Human parechovirus 1 capsid proteins. {ECO 0000269|PubMed:11160695}. # SUBUNIT (Microbial infection) Integrin ITGAV:ITGB3 interacts with West nile virus envelope protein E. {ECO 0000269|PubMed:23658209}. # SUBUNIT (Microbial infection) Integrin ITGAV:ITGB3 interacts with herpes virus 8/HHV-8 envelope glycoprotein B. {ECO 0000269|PubMed:18045938}. # SUBUNIT (Microbial infection) Integrin ITGAV:ITGB5 interacts with adenovirus type C penton protein. {ECO 0000269|PubMed:20615244}. # SUBUNIT (Microbial infection) Integrin ITGAV:ITGB6 interacts with herpes simplex 1/HHV-1 envelope glycoprotein H. {ECO 0000269|PubMed:24367260}. # SUBUNIT (Microbial infection) Interacts with HIV-1 Tat. {ECO:0000269|PubMed 10397733}. # SUBUNIT ITAV_HUMAN (Microbial infection) Integrin ITGAV ITGB3 and ITGAV ITGB6 bind to coxsackievirus A9 and coxsackievirus B1 capsid proteins (PubMed 9426447, PubMed 15194773, PubMed 7519807). {ECO 0000269|PubMed 15194773, ECO 0000269|PubMed 7519807, ECO 0000269|PubMed 9426447}. # SUBUNIT ITAV_HUMAN Heterodimer of an alpha and a beta subunit. The alpha subunit is composed of a heavy and a light chain linked by a disulfide bond. Alpha-V (ITGAV) associates with either beta-1 (ITGB1), beta-3 (ITGB3), beta-5 (ITGB5), beta-6 (ITGB6) or beta-8 (ITGB8). Interacts with CIB1 (PubMed 24011356). Interacts with RAB25 (PubMed 17925226). Integrins ITGAV ITGB3 and ITGAV ITGB5 interact with FBLN5 (via N-terminus) (By similarity). ITGAV ITGB3 and ITGAV ITGB5 interact with NOV (PubMed 12695522). ITGAV ITGB3 interacts with ADGRA2 (PubMed 16982628). ITGAV ITGB3 is found in a ternary complex with CX3CR1 and CX3CL1 (PubMed 23125415). ITGAV ITGB3 is found in a ternary complex with NRG1 and ERBB3 (PubMed 20682778). ITGAV ITGB3 is found in a ternary complex with FGF1 and FGFR1 (PubMed 18441324). ITGAV ITGB3 is found in a ternary complex with IGF1 and IGF1R (PubMed 19578119). ITGAV ITGB3 and ITGAV ITGB6 interact with FBN1 (PubMed 12807887, PubMed 17158881). {ECO 0000250|UniProtKB P43406, ECO 0000250|UniProtKB P80746, ECO 0000269|PubMed 12695522, ECO 0000269|PubMed 12807887, ECO 0000269|PubMed 16982628, ECO 0000269|PubMed 17158881, ECO 0000269|PubMed 17925226, ECO 0000269|PubMed 18441324, ECO 0000269|PubMed 19578119, ECO 0000269|PubMed 20615244, ECO 0000269|PubMed 20682778, ECO 0000269|PubMed 23125415, ECO 0000269|PubMed 23658209, ECO 0000269|PubMed 24011356}. # SUPFAM SSF69179 SSF69179; 3 # UCSC uc002upq human. [P06756-1] # eggNOG ENOG410IPB5 Eukaryota # eggNOG ENOG410YR19 LUCA BLAST swissprot:ITAV_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ITAV_HUMAN BioCyc ZFISH:ENSG00000138448-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000138448-MONOMER COXPRESdb 3685 http://coxpresdb.jp/data/gene/3685.shtml CleanEx HS_ITGAV http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ITGAV DIP DIP-31785N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-31785N DOI 10.1006/viro.1994.1494 http://dx.doi.org/10.1006/viro.1994.1494 DOI 10.1006/viro.1997.8831 http://dx.doi.org/10.1006/viro.1997.8831 DOI 10.1016/0092-8674(89)90172-4 http://dx.doi.org/10.1016/0092-8674(89)90172-4 DOI 10.1016/0167-4781(94)90278-X http://dx.doi.org/10.1016/0167-4781(94)90278-X DOI 10.1016/j.cell.2006.09.026 http://dx.doi.org/10.1016/j.cell.2006.09.026 DOI 10.1016/j.devcel.2007.08.012 http://dx.doi.org/10.1016/j.devcel.2007.08.012 DOI 10.1021/bi034726u http://dx.doi.org/10.1021/bi034726u DOI 10.1021/bi400678y http://dx.doi.org/10.1021/bi400678y DOI 10.1021/pr8008012 http://dx.doi.org/10.1021/pr8008012 DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1038/nbt.1532 http://dx.doi.org/10.1038/nbt.1532 DOI 10.1038/nbt827 http://dx.doi.org/10.1038/nbt827 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1073/pnas.83.22.8614 http://dx.doi.org/10.1073/pnas.83.22.8614 DOI 10.1074/jbc.M109.013201 http://dx.doi.org/10.1074/jbc.M109.013201 DOI 10.1074/jbc.M110.113878 http://dx.doi.org/10.1074/jbc.M110.113878 DOI 10.1074/jbc.M114.579946 http://dx.doi.org/10.1074/jbc.M114.579946 DOI 10.1074/jbc.M302028200 http://dx.doi.org/10.1074/jbc.M302028200 DOI 10.1074/jbc.M303159200 http://dx.doi.org/10.1074/jbc.M303159200 DOI 10.1074/jbc.M605291200 http://dx.doi.org/10.1074/jbc.M605291200 DOI 10.1074/jbc.M607008200 http://dx.doi.org/10.1074/jbc.M607008200 DOI 10.1074/jbc.M801213200 http://dx.doi.org/10.1074/jbc.M801213200 DOI 10.1074/jbc.M804835200 http://dx.doi.org/10.1074/jbc.M804835200 DOI 10.1099/vir.0.052613-0 http://dx.doi.org/10.1099/vir.0.052613-0 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1064535 http://dx.doi.org/10.1126/science.1064535 DOI 10.1128/JVI.01673-07 http://dx.doi.org/10.1128/JVI.01673-07 DOI 10.1128/JVI.75.4.1958-1967.2001 http://dx.doi.org/10.1128/JVI.75.4.1958-1967.2001 DOI 10.1128/JVI.78.13.6967-6973.2004 http://dx.doi.org/10.1128/JVI.78.13.6967-6973.2004 DOI 10.1186/1743-422X-7-148 http://dx.doi.org/10.1186/1743-422X-7-148 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DOI 10.1371/journal.ppat.1003806 http://dx.doi.org/10.1371/journal.ppat.1003806 DOI 10.4049/jimmunol.1200889 http://dx.doi.org/10.4049/jimmunol.1200889 DrugBank DB00098 http://www.drugbank.ca/drugs/DB00098 EMBL AB209894 http://www.ebi.ac.uk/ena/data/view/AB209894 EMBL AC017101 http://www.ebi.ac.uk/ena/data/view/AC017101 EMBL AF251818 http://www.ebi.ac.uk/ena/data/view/AF251818 EMBL AF251819 http://www.ebi.ac.uk/ena/data/view/AF251819 EMBL AF251820 http://www.ebi.ac.uk/ena/data/view/AF251820 EMBL AF251821 http://www.ebi.ac.uk/ena/data/view/AF251821 EMBL AF251822 http://www.ebi.ac.uk/ena/data/view/AF251822 EMBL AF251823 http://www.ebi.ac.uk/ena/data/view/AF251823 EMBL AF251824 http://www.ebi.ac.uk/ena/data/view/AF251824 EMBL AF251825 http://www.ebi.ac.uk/ena/data/view/AF251825 EMBL AF251826 http://www.ebi.ac.uk/ena/data/view/AF251826 EMBL AF251827 http://www.ebi.ac.uk/ena/data/view/AF251827 EMBL AF251828 http://www.ebi.ac.uk/ena/data/view/AF251828 EMBL AF251829 http://www.ebi.ac.uk/ena/data/view/AF251829 EMBL AF251830 http://www.ebi.ac.uk/ena/data/view/AF251830 EMBL AF251831 http://www.ebi.ac.uk/ena/data/view/AF251831 EMBL AF251832 http://www.ebi.ac.uk/ena/data/view/AF251832 EMBL AF251833 http://www.ebi.ac.uk/ena/data/view/AF251833 EMBL AF251834 http://www.ebi.ac.uk/ena/data/view/AF251834 EMBL AF251835 http://www.ebi.ac.uk/ena/data/view/AF251835 EMBL AF251836 http://www.ebi.ac.uk/ena/data/view/AF251836 EMBL AF251837 http://www.ebi.ac.uk/ena/data/view/AF251837 EMBL AF251838 http://www.ebi.ac.uk/ena/data/view/AF251838 EMBL AF251839 http://www.ebi.ac.uk/ena/data/view/AF251839 EMBL AF251840 http://www.ebi.ac.uk/ena/data/view/AF251840 EMBL AF251841 http://www.ebi.ac.uk/ena/data/view/AF251841 EMBL AK302990 http://www.ebi.ac.uk/ena/data/view/AK302990 EMBL BC126231 http://www.ebi.ac.uk/ena/data/view/BC126231 EMBL BC136442 http://www.ebi.ac.uk/ena/data/view/BC136442 EMBL BC144100 http://www.ebi.ac.uk/ena/data/view/BC144100 EMBL CH471058 http://www.ebi.ac.uk/ena/data/view/CH471058 EMBL EU332844 http://www.ebi.ac.uk/ena/data/view/EU332844 EMBL M14648 http://www.ebi.ac.uk/ena/data/view/M14648 EMBL U07375 http://www.ebi.ac.uk/ena/data/view/U07375 Ensembl ENST00000261023 http://www.ensembl.org/id/ENST00000261023 Ensembl ENST00000374907 http://www.ensembl.org/id/ENST00000374907 Ensembl ENST00000433736 http://www.ensembl.org/id/ENST00000433736 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0005925 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005925 GO_component GO:0008305 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008305 GO_component GO:0009897 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009897 GO_component GO:0009986 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009986 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0031258 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031258 GO_component GO:0031527 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031527 GO_component GO:0031528 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031528 GO_component GO:0032587 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032587 GO_component GO:0034683 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034683 GO_component GO:0034684 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034684 GO_component GO:0034686 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034686 GO_component GO:0035867 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035867 GO_component GO:0045335 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045335 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0001618 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001618 GO_function GO:0001968 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001968 GO_function GO:0002020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002020 GO_function GO:0005245 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005245 GO_function GO:0015026 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015026 GO_function GO:0046872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046872 GO_function GO:0050431 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050431 GO_function GO:0050840 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050840 GO_function GO:1990430 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1990430 GO_process GO:0001525 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001525 GO_process GO:0002479 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002479 GO_process GO:0007155 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007155 GO_process GO:0007160 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007160 GO_process GO:0007229 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007229 GO_process GO:0008284 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008284 GO_process GO:0010745 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010745 GO_process GO:0010888 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010888 GO_process GO:0016049 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016049 GO_process GO:0016477 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016477 GO_process GO:0030198 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030198 GO_process GO:0030335 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030335 GO_process GO:0031589 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031589 GO_process GO:0032369 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032369 GO_process GO:0033627 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033627 GO_process GO:0033690 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033690 GO_process GO:0034113 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034113 GO_process GO:0034446 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034446 GO_process GO:0035987 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035987 GO_process GO:0038027 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0038027 GO_process GO:0043277 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043277 GO_process GO:0045715 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045715 GO_process GO:0045785 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045785 GO_process GO:0046718 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046718 GO_process GO:0048010 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048010 GO_process GO:0050748 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050748 GO_process GO:0050764 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050764 GO_process GO:0050900 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050900 GO_process GO:0050919 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050919 GO_process GO:0052066 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0052066 GO_process GO:0070371 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070371 GO_process GO:0070588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070588 GO_process GO:0097192 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097192 GO_process GO:2000425 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000425 GO_process GO:2000536 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000536 GO_process GO:2001237 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2001237 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0031410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0000902 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000902 GOslim_process GO:0002376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002376 GOslim_process GO:0006464 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006464 GOslim_process GO:0007155 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007155 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0016192 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016192 GOslim_process GO:0030154 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030154 GOslim_process GO:0030198 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030198 GOslim_process GO:0040007 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0040007 GOslim_process GO:0040011 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0040011 GOslim_process GO:0048646 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048646 GOslim_process GO:0048870 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048870 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards ITGAV http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ITGAV GeneID 3685 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=3685 GeneTree ENSGT00760000118782 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118782 HGNC HGNC:6150 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6150 HOGENOM HOG000231603 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231603&db=HOGENOM6 HOVERGEN HBG006186 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG006186&db=HOVERGEN HPA CAB002499 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB002499 HPA HPA004856 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA004856 InParanoid P06756 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P06756 IntAct P06756 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P06756* InterPro IPR000413 http://www.ebi.ac.uk/interpro/entry/IPR000413 InterPro IPR013517 http://www.ebi.ac.uk/interpro/entry/IPR013517 InterPro IPR013519 http://www.ebi.ac.uk/interpro/entry/IPR013519 InterPro IPR013649 http://www.ebi.ac.uk/interpro/entry/IPR013649 InterPro IPR018184 http://www.ebi.ac.uk/interpro/entry/IPR018184 InterPro IPR032695 http://www.ebi.ac.uk/interpro/entry/IPR032695 Jabion 3685 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=3685 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04090 http://www.genome.jp/dbget-bin/www_bget?ko04090 KEGG_Brite ko04516 http://www.genome.jp/dbget-bin/www_bget?ko04516 KEGG_Gene hsa:3685 http://www.genome.jp/dbget-bin/www_bget?hsa:3685 KEGG_Orthology KO:K06487 http://www.genome.jp/dbget-bin/www_bget?KO:K06487 KEGG_Pathway ko04145 http://www.genome.jp/kegg-bin/show_pathway?ko04145 KEGG_Pathway ko04151 http://www.genome.jp/kegg-bin/show_pathway?ko04151 KEGG_Pathway ko04510 http://www.genome.jp/kegg-bin/show_pathway?ko04510 KEGG_Pathway ko04512 http://www.genome.jp/kegg-bin/show_pathway?ko04512 KEGG_Pathway ko04514 http://www.genome.jp/kegg-bin/show_pathway?ko04514 KEGG_Pathway ko04810 http://www.genome.jp/kegg-bin/show_pathway?ko04810 KEGG_Pathway ko05200 http://www.genome.jp/kegg-bin/show_pathway?ko05200 KEGG_Pathway ko05222 http://www.genome.jp/kegg-bin/show_pathway?ko05222 KEGG_Pathway ko05410 http://www.genome.jp/kegg-bin/show_pathway?ko05410 KEGG_Pathway ko05412 http://www.genome.jp/kegg-bin/show_pathway?ko05412 KEGG_Pathway ko05414 http://www.genome.jp/kegg-bin/show_pathway?ko05414 MIM 193210 http://www.ncbi.nlm.nih.gov/omim/193210 MINT MINT-209462 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-209462 OMA SCFNVRF http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=SCFNVRF OrthoDB EOG091G05Z4 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G05Z4 PDB 1JV2 http://www.ebi.ac.uk/pdbe-srv/view/entry/1JV2 PDB 1L5G http://www.ebi.ac.uk/pdbe-srv/view/entry/1L5G PDB 1M1X http://www.ebi.ac.uk/pdbe-srv/view/entry/1M1X PDB 1U8C http://www.ebi.ac.uk/pdbe-srv/view/entry/1U8C PDB 3IJE http://www.ebi.ac.uk/pdbe-srv/view/entry/3IJE PDB 4G1E http://www.ebi.ac.uk/pdbe-srv/view/entry/4G1E PDB 4G1M http://www.ebi.ac.uk/pdbe-srv/view/entry/4G1M PDB 4MMX http://www.ebi.ac.uk/pdbe-srv/view/entry/4MMX PDB 4MMY http://www.ebi.ac.uk/pdbe-srv/view/entry/4MMY PDB 4MMZ http://www.ebi.ac.uk/pdbe-srv/view/entry/4MMZ PDB 4O02 http://www.ebi.ac.uk/pdbe-srv/view/entry/4O02 PDB 4UM8 http://www.ebi.ac.uk/pdbe-srv/view/entry/4UM8 PDB 4UM9 http://www.ebi.ac.uk/pdbe-srv/view/entry/4UM9 PDBsum 1JV2 http://www.ebi.ac.uk/pdbsum/1JV2 PDBsum 1L5G http://www.ebi.ac.uk/pdbsum/1L5G PDBsum 1M1X http://www.ebi.ac.uk/pdbsum/1M1X PDBsum 1U8C http://www.ebi.ac.uk/pdbsum/1U8C PDBsum 3IJE http://www.ebi.ac.uk/pdbsum/3IJE PDBsum 4G1E http://www.ebi.ac.uk/pdbsum/4G1E PDBsum 4G1M http://www.ebi.ac.uk/pdbsum/4G1M PDBsum 4MMX http://www.ebi.ac.uk/pdbsum/4MMX PDBsum 4MMY http://www.ebi.ac.uk/pdbsum/4MMY PDBsum 4MMZ http://www.ebi.ac.uk/pdbsum/4MMZ PDBsum 4O02 http://www.ebi.ac.uk/pdbsum/4O02 PDBsum 4UM8 http://www.ebi.ac.uk/pdbsum/4UM8 PDBsum 4UM9 http://www.ebi.ac.uk/pdbsum/4UM9 PRINTS PR01185 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01185 PROSITE PS00242 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00242 PROSITE PS51470 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51470 PSORT swissprot:ITAV_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ITAV_HUMAN PSORT-B swissprot:ITAV_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ITAV_HUMAN PSORT2 swissprot:ITAV_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ITAV_HUMAN Pfam PF00357 http://pfam.xfam.org/family/PF00357 Pfam PF01839 http://pfam.xfam.org/family/PF01839 Pfam PF08441 http://pfam.xfam.org/family/PF08441 PharmGKB PA37336 http://www.pharmgkb.org/do/serve?objId=PA37336&objCls=Gene Phobius swissprot:ITAV_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ITAV_HUMAN PhylomeDB P06756 http://phylomedb.org/?seqid=P06756 ProteinModelPortal P06756 http://www.proteinmodelportal.org/query/uniprot/P06756 PubMed 10397733 http://www.ncbi.nlm.nih.gov/pubmed/10397733 PubMed 10965141 http://www.ncbi.nlm.nih.gov/pubmed/10965141 PubMed 11160695 http://www.ncbi.nlm.nih.gov/pubmed/11160695 PubMed 11546839 http://www.ncbi.nlm.nih.gov/pubmed/11546839 PubMed 12695522 http://www.ncbi.nlm.nih.gov/pubmed/12695522 PubMed 12754519 http://www.ncbi.nlm.nih.gov/pubmed/12754519 PubMed 12807887 http://www.ncbi.nlm.nih.gov/pubmed/12807887 PubMed 14596610 http://www.ncbi.nlm.nih.gov/pubmed/14596610 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15194773 http://www.ncbi.nlm.nih.gov/pubmed/15194773 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 PubMed 16982628 http://www.ncbi.nlm.nih.gov/pubmed/16982628 PubMed 17081983 http://www.ncbi.nlm.nih.gov/pubmed/17081983 PubMed 17158881 http://www.ncbi.nlm.nih.gov/pubmed/17158881 PubMed 17925226 http://www.ncbi.nlm.nih.gov/pubmed/17925226 PubMed 18045938 http://www.ncbi.nlm.nih.gov/pubmed/18045938 PubMed 18441324 http://www.ncbi.nlm.nih.gov/pubmed/18441324 PubMed 18635536 http://www.ncbi.nlm.nih.gov/pubmed/18635536 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 19159218 http://www.ncbi.nlm.nih.gov/pubmed/19159218 PubMed 19349973 http://www.ncbi.nlm.nih.gov/pubmed/19349973 PubMed 19578119 http://www.ncbi.nlm.nih.gov/pubmed/19578119 PubMed 20615244 http://www.ncbi.nlm.nih.gov/pubmed/20615244 PubMed 20682778 http://www.ncbi.nlm.nih.gov/pubmed/20682778 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 23125415 http://www.ncbi.nlm.nih.gov/pubmed/23125415 PubMed 23658209 http://www.ncbi.nlm.nih.gov/pubmed/23658209 PubMed 24011356 http://www.ncbi.nlm.nih.gov/pubmed/24011356 PubMed 2430295 http://www.ncbi.nlm.nih.gov/pubmed/2430295 PubMed 24367260 http://www.ncbi.nlm.nih.gov/pubmed/24367260 PubMed 2443500 http://www.ncbi.nlm.nih.gov/pubmed/2443500 PubMed 2467745 http://www.ncbi.nlm.nih.gov/pubmed/2467745 PubMed 25398877 http://www.ncbi.nlm.nih.gov/pubmed/25398877 PubMed 7519807 http://www.ncbi.nlm.nih.gov/pubmed/7519807 PubMed 7522056 http://www.ncbi.nlm.nih.gov/pubmed/7522056 PubMed 9426447 http://www.ncbi.nlm.nih.gov/pubmed/9426447 Reactome R-HSA-1236973 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1236973 Reactome R-HSA-1566948 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1566948 Reactome R-HSA-210990 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-210990 Reactome R-HSA-2129379 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2129379 Reactome R-HSA-216083 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-216083 Reactome R-HSA-3000157 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-3000157 Reactome R-HSA-3000170 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-3000170 Reactome R-HSA-3000178 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-3000178 Reactome R-HSA-4420097 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-4420097 Reactome R-HSA-445144 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-445144 Reactome R-HSA-6798695 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6798695 RefSeq NP_001138471 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001138471 RefSeq NP_001138472 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001138472 RefSeq NP_002201 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_002201 SMART SM00191 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00191 SMR P06756 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P06756 STRING 9606.ENSP00000261023 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000261023&targetmode=cogs SUPFAM SSF69179 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF69179 UCSC uc002upq http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002upq&org=rat UniGene Hs.436873 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.436873 UniProtKB ITAV_HUMAN http://www.uniprot.org/uniprot/ITAV_HUMAN UniProtKB-AC P06756 http://www.uniprot.org/uniprot/P06756 charge swissprot:ITAV_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ITAV_HUMAN eggNOG ENOG410IPB5 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IPB5 eggNOG ENOG410YR19 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410YR19 epestfind swissprot:ITAV_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ITAV_HUMAN garnier swissprot:ITAV_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ITAV_HUMAN helixturnhelix swissprot:ITAV_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ITAV_HUMAN hmoment swissprot:ITAV_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ITAV_HUMAN iep swissprot:ITAV_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ITAV_HUMAN inforesidue swissprot:ITAV_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ITAV_HUMAN neXtProt NX_P06756 http://www.nextprot.org/db/entry/NX_P06756 octanol swissprot:ITAV_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ITAV_HUMAN pepcoil swissprot:ITAV_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ITAV_HUMAN pepdigest swissprot:ITAV_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ITAV_HUMAN pepinfo swissprot:ITAV_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ITAV_HUMAN pepnet swissprot:ITAV_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ITAV_HUMAN pepstats swissprot:ITAV_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ITAV_HUMAN pepwheel swissprot:ITAV_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ITAV_HUMAN pepwindow swissprot:ITAV_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ITAV_HUMAN sigcleave swissprot:ITAV_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ITAV_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS NALCN_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q8IZF0-1; Sequence=Displayed; Name=2; IsoId=Q8IZF0-2; Sequence=VSP_030190, VSP_030191; Name=3; IsoId=Q8IZF0-3; Sequence=VSP_030188, VSP_030189; # AltName NALCN_HUMAN CanIon # AltName NALCN_HUMAN Voltage gated channel-like protein 1 # BioGrid 129228 3 # CCDS CCDS9498 -. [Q8IZF0-1] # ChiTaRS NALCN human # DISEASE NALCN_HUMAN Congenital contractures of the limbs and face, hypotonia, and developmental delay (CLIFAHDD) [MIM 616266] A disease characterized by congenital contractures of the limbs and face, resulting in characteristic facial features, abnormal tone, most commonly manifested as hypotonia, and variable degrees of developmental delay. {ECO 0000269|PubMed 25683120}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE NALCN_HUMAN Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 (IHPRF1) [MIM 615419] A neurodegenerative disease characterized by variable degrees of hypotonia, speech impairment, intellectual disability, pyramidal signs, subtle facial dysmorphism, and chronic constipation. Some patients manifest neuroaxonal dystrophy, optic atrophy, unmyelinated axons and spheroid bodies in tissue biopsies. {ECO 0000269|PubMed 23749988, ECO 0000269|PubMed 24075186}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DOMAIN NALCN_HUMAN Each of the four internal repeats contains five hydrophobic transmembrane segments (S1, S2, S3, S5, S6) and one positively charged transmembrane segment (S4). S4 segments probably represent the voltage-sensor. S4 transmembrane segments lack some of the charged residues (K and R) found at every third position in the S4s of the NaV, CaV, and KV channels. Pore-forming loops (P loops) between S5 and S6 of each domain form an EEKE sodium- ion selectivity filter a mixture between the EEEE found in the CaVs and the DEKA of NaVs. {ECO 0000250|UniProtKB Q8BXR5}. # Ensembl ENST00000251127 ENSP00000251127; ENSG00000102452. [Q8IZF0-1] # Ensembl ENST00000376200 ENSP00000365373; ENSG00000102452. [Q8IZF0-3] # ExpressionAtlas Q8IZF0 baseline and differential # FUNCTION NALCN_HUMAN Voltage-independent, cation-nonselective channel which is permeable to sodium, potassium and calcium ions. Regulates the resting membrane potential and controls neuronal excitability (PubMed 17448995). Neuropeptides such as neurotensin and substance P (SP) stimulate the firing of action potentials by activating NALCN through a SRC family kinases-dependent pathway. In addition to its baseline activity, NALCN activity is enhanced/modulated by several GPCRs. Required for normal respiratory rhythm and neonatal survival. Involved in systemic osmoregulation by controlling the serum sodium concentration. NALCN is partly responsible for the substance P-induced depolarization and regulation of the intestinal pace-making activity in the interstitial cells of Cajal. Plays a critical role in both maintenance of spontaneous firing of substantia nigra pars reticulata (SNr) neurons and physiological modulation of SNr neuron excitability (By similarity). {ECO 0000250|UniProtKB Q8BXR5, ECO 0000269|PubMed 17448995}. # GO_component GO:0005886 plasma membrane; IBA:GO_Central. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0005244 voltage-gated ion channel activity; IEA:UniProtKB-KW. # GO_function GO:0005261 cation channel activity; ISS:UniProtKB. # GO_function GO:0005272 sodium channel activity; TAS:Reactome. # GO_function GO:0022840 leak channel activity; ISS:UniProtKB. # GO_process GO:0006816 calcium ion transport; IBA:GO_Central. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0035725 sodium ion transmembrane transport; ISS:UniProtKB. # GO_process GO:0060075 regulation of resting membrane potential; ISS:UniProtKB. # GO_process GO:0070588 calcium ion transmembrane transport; ISS:UniProtKB. # GO_process GO:0071805 potassium ion transmembrane transport; ISS:UniProtKB. # GO_process GO:0086010 membrane depolarization during action potential; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.20.120.350 -; 4. # Genevisible Q8IZF0 HS # HGNC HGNC:19082 NALCN # INTERACTION NALCN_HUMAN P20309 CHRM3; NbExp=3; IntAct=EBI-7085333, EBI-2687785; A4D127 MEOX2; NbExp=3; IntAct=EBI-7085333, EBI-10172134; # IntAct Q8IZF0 2 # InterPro IPR005821 Ion_trans_dom # InterPro IPR027359 Channel_four-helix_dom # InterPro IPR028823 NALCN # MIM 611549 gene # MIM 615419 phenotype # MIM 616266 phenotype # Organism NALCN_HUMAN Homo sapiens (Human) # Orphanet 371364 Hypotonia-speech impairment-severe cognitive delay syndrome # PANTHER PTHR10037:SF214 PTHR10037:SF214; 2 # PTM NALCN_HUMAN Phosphorylated on tyrosine residues. {ECO 0000250|UniProtKB Q8BXR5}. # Pfam PF00520 Ion_trans; 4 # Proteomes UP000005640 Chromosome 13 # Reactome R-HSA-2672351 Stimuli-sensing channels # RecName NALCN_HUMAN Sodium leak channel non-selective protein # RefSeq NP_443099 NM_052867.2. [Q8IZF0-1] # RefSeq XP_011519370 XM_011521068.2. [Q8IZF0-1] # SEQUENCE CAUTION Sequence=BAD18738.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the cation-nonselective channel family. {ECO 0000305}. # SUBCELLULAR LOCATION NALCN_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # SUBUNIT Interacts with UNC80; required for the NALCN activation/inhibition by GPCRs in neurons. Found in a complex with NALCN, UNC79 and UNC80; UNC80 bridges NALCN to UNC79. Interacts with CHRM3. {ECO:0000250|UniProtKB Q8BXR5}. # TCDB 1.A.1.11.15 the voltage-gated ion channel (vic) superfamily # UCSC uc001vox human. [Q8IZF0-1] # eggNOG ENOG410XNP6 LUCA # eggNOG KOG2301 Eukaryota BLAST swissprot:NALCN_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:NALCN_HUMAN COXPRESdb 259232 http://coxpresdb.jp/data/gene/259232.shtml CleanEx HS_NALCN http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_NALCN DOI 10.1002/humu.22797 http://dx.doi.org/10.1002/humu.22797 DOI 10.1016/j.ajhg.2013.08.001 http://dx.doi.org/10.1016/j.ajhg.2013.08.001 DOI 10.1016/j.ajhg.2015.01.003 http://dx.doi.org/10.1016/j.ajhg.2015.01.003 DOI 10.1016/j.cell.2007.02.041 http://dx.doi.org/10.1016/j.cell.2007.02.041 DOI 10.1038/jhg.2015.163 http://dx.doi.org/10.1038/jhg.2015.163 DOI 10.1038/nature02379 http://dx.doi.org/10.1038/nature02379 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1055/s-0036-1584084 http://dx.doi.org/10.1055/s-0036-1584084 DOI 10.1073/pnas.182412499 http://dx.doi.org/10.1073/pnas.182412499 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1136/jmedgenet-2013-101634 http://dx.doi.org/10.1136/jmedgenet-2013-101634 EMBL AE014293 http://www.ebi.ac.uk/ena/data/view/AE014293 EMBL AK172752 http://www.ebi.ac.uk/ena/data/view/AK172752 EMBL AL138707 http://www.ebi.ac.uk/ena/data/view/AL138707 EMBL AL138707 http://www.ebi.ac.uk/ena/data/view/AL138707 EMBL AL138707 http://www.ebi.ac.uk/ena/data/view/AL138707 EMBL AL354891 http://www.ebi.ac.uk/ena/data/view/AL354891 EMBL AL354891 http://www.ebi.ac.uk/ena/data/view/AL354891 EMBL AL354891 http://www.ebi.ac.uk/ena/data/view/AL354891 EMBL AL356778 http://www.ebi.ac.uk/ena/data/view/AL356778 EMBL AL356778 http://www.ebi.ac.uk/ena/data/view/AL356778 EMBL AL356778 http://www.ebi.ac.uk/ena/data/view/AL356778 EMBL AY141972 http://www.ebi.ac.uk/ena/data/view/AY141972 EMBL BC028390 http://www.ebi.ac.uk/ena/data/view/BC028390 EMBL BC064343 http://www.ebi.ac.uk/ena/data/view/BC064343 EMBL CH471085 http://www.ebi.ac.uk/ena/data/view/CH471085 Ensembl ENST00000251127 http://www.ensembl.org/id/ENST00000251127 Ensembl ENST00000376200 http://www.ensembl.org/id/ENST00000376200 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005244 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005244 GO_function GO:0005261 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005261 GO_function GO:0005272 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005272 GO_function GO:0022840 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022840 GO_process GO:0006816 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006816 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0035725 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035725 GO_process GO:0060075 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060075 GO_process GO:0070588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070588 GO_process GO:0071805 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071805 GO_process GO:0086010 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086010 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.20.120.350 http://www.cathdb.info/version/latest/superfamily/1.20.120.350 GeneCards NALCN http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=NALCN GeneID 259232 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=259232 GeneTree ENSGT00830000128247 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00830000128247 H-InvDB HIX0011433 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0011433 HGNC HGNC:19082 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:19082 HOGENOM HOG000012967 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000012967&db=HOGENOM6 HOVERGEN HBG063081 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG063081&db=HOVERGEN HPA HPA031889 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA031889 HPA HPA031890 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA031890 HPA HPA031958 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA031958 InParanoid Q8IZF0 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8IZF0 IntAct Q8IZF0 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q8IZF0* InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR027359 http://www.ebi.ac.uk/interpro/entry/IPR027359 InterPro IPR028823 http://www.ebi.ac.uk/interpro/entry/IPR028823 Jabion 259232 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=259232 KEGG_Gene hsa:259232 http://www.genome.jp/dbget-bin/www_bget?hsa:259232 MIM 611549 http://www.ncbi.nlm.nih.gov/omim/611549 MIM 615419 http://www.ncbi.nlm.nih.gov/omim/615419 MIM 616266 http://www.ncbi.nlm.nih.gov/omim/616266 OMA MLGDSAM http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=MLGDSAM Orphanet 371364 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=371364 OrthoDB EOG091G00F9 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G00F9 PANTHER PTHR10037:SF214 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10037:SF214 PSORT swissprot:NALCN_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:NALCN_HUMAN PSORT-B swissprot:NALCN_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:NALCN_HUMAN PSORT2 swissprot:NALCN_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:NALCN_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 PharmGKB PA162396840 http://www.pharmgkb.org/do/serve?objId=PA162396840&objCls=Gene Phobius swissprot:NALCN_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:NALCN_HUMAN PhylomeDB Q8IZF0 http://phylomedb.org/?seqid=Q8IZF0 ProteinModelPortal Q8IZF0 http://www.proteinmodelportal.org/query/uniprot/Q8IZF0 PubMed 12364586 http://www.ncbi.nlm.nih.gov/pubmed/12364586 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15057823 http://www.ncbi.nlm.nih.gov/pubmed/15057823 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 17448995 http://www.ncbi.nlm.nih.gov/pubmed/17448995 PubMed 23749988 http://www.ncbi.nlm.nih.gov/pubmed/23749988 PubMed 24075186 http://www.ncbi.nlm.nih.gov/pubmed/24075186 PubMed 25683120 http://www.ncbi.nlm.nih.gov/pubmed/25683120 PubMed 25864427 http://www.ncbi.nlm.nih.gov/pubmed/25864427 PubMed 26763878 http://www.ncbi.nlm.nih.gov/pubmed/26763878 PubMed 27214504 http://www.ncbi.nlm.nih.gov/pubmed/27214504 Reactome R-HSA-2672351 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2672351 RefSeq NP_443099 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_443099 RefSeq XP_011519370 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011519370 STRING 9606.ENSP00000251127 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000251127&targetmode=cogs TCDB 1.A.1.11.15 http://www.tcdb.org/search/result.php?tc=1.A.1.11.15 UCSC uc001vox http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001vox&org=rat UniGene Hs.525146 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.525146 UniProtKB NALCN_HUMAN http://www.uniprot.org/uniprot/NALCN_HUMAN UniProtKB-AC Q8IZF0 http://www.uniprot.org/uniprot/Q8IZF0 charge swissprot:NALCN_HUMAN http://rest.g-language.org/emboss/charge/swissprot:NALCN_HUMAN eggNOG ENOG410XNP6 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XNP6 eggNOG KOG2301 http://eggnogapi.embl.de/nog_data/html/tree/KOG2301 epestfind swissprot:NALCN_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:NALCN_HUMAN garnier swissprot:NALCN_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:NALCN_HUMAN helixturnhelix swissprot:NALCN_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:NALCN_HUMAN hmoment swissprot:NALCN_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:NALCN_HUMAN iep swissprot:NALCN_HUMAN http://rest.g-language.org/emboss/iep/swissprot:NALCN_HUMAN inforesidue swissprot:NALCN_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:NALCN_HUMAN neXtProt NX_Q8IZF0 http://www.nextprot.org/db/entry/NX_Q8IZF0 octanol swissprot:NALCN_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:NALCN_HUMAN pepcoil swissprot:NALCN_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:NALCN_HUMAN pepdigest swissprot:NALCN_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:NALCN_HUMAN pepinfo swissprot:NALCN_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:NALCN_HUMAN pepnet swissprot:NALCN_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:NALCN_HUMAN pepstats swissprot:NALCN_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:NALCN_HUMAN pepwheel swissprot:NALCN_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:NALCN_HUMAN pepwindow swissprot:NALCN_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:NALCN_HUMAN sigcleave swissprot:NALCN_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:NALCN_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS SCN8A_HUMAN Event=Alternative splicing; Named isoforms=5; Name=1 {ECO 0000269|PubMed 9828131}; IsoId=Q9UQD0-1; Sequence=Displayed; Name=2 {ECO 0000269|PubMed 9828131}; Synonyms=5A {ECO 0000269|PubMed 9828131}; IsoId=Q9UQD0-2; Sequence=VSP_050589, VSP_050590; Name=3 {ECO 0000269|PubMed 9828131}; IsoId=Q9UQD0-3; Sequence=VSP_050591; Name=4 {ECO 0000269|PubMed 9295353}; Synonyms=18N {ECO 0000269|PubMed 9295353}; IsoId=Q9UQD0-4; Sequence=VSP_050592, VSP_050593; Name=5; IsoId=Q9UQD0-5; Sequence=VSP_038651; # AltName SCN8A_HUMAN Sodium channel protein type VIII subunit alpha # AltName SCN8A_HUMAN Voltage-gated sodium channel subunit alpha Nav1.6 # CCDS CCDS44891 -. [Q9UQD0-1] # CCDS CCDS53794 -. [Q9UQD0-5] # CCDS CCDS81692 -. [Q9UQD0-2] # ChiTaRS SCN8A human # DISEASE SCN8A_HUMAN Cognitive impairment with or without cerebellar ataxia (CIAT) [MIM 614306] A disorder characterized by markedly delayed cognitive and motor development, attention deficit disorder, and cerebellar ataxia. Features include bilateral esophoria, strabismatic amblyopia, unsustained gaze evoked nystagmus on horizontal gaze, ataxic gait, dysmetria in the upper limbs and dysarthria, with normal strength, tone, and reflexes. {ECO 0000269|PubMed 16236810}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE SCN8A_HUMAN Epileptic encephalopathy, early infantile, 13 (EIEE13) [MIM 614558] A form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high- voltage bursts alternating with almost flat suppression phases. Patients may progress to West syndrome, which is characterized by tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on EEG. EIEE13 is a severe form consisting of early-onset seizures, features of autism, intellectual disability, ataxia, and sudden unexplained death in epilepsy. {ECO 0000269|PubMed 22365152, ECO 0000269|PubMed 24352161, ECO 0000269|PubMed 24874546, ECO 0000269|PubMed 24888894, ECO 0000269|PubMed 25239001, ECO 0000269|PubMed 25568300, ECO 0000269|PubMed 25725044, ECO 0000269|PubMed 25785782, ECO 0000269|PubMed 26900580, ECO 0000269|PubMed 27210545}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE SCN8A_HUMAN Seizures, benign familial infantile, 5 (BFIS5) [MIM 617080] A form of benign familial infantile epilepsy, a neurologic disorder characterized by afebrile seizures occurring in clusters during the first year of life, without neurologic sequelae. BFIS5 inheritance is autosomal dominant. {ECO 0000269|PubMed 26677014, ECO 0000269|PubMed 27210545}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DOMAIN SCN8A_HUMAN The sequence contains 4 internal repeats, each with 5 hydrophobic segments (S1,S2,S3,S5,S6) and one positively charged segment (S4). Segments S4 are probably the voltage-sensors and are characterized by a series of positively charged amino acids at every third position. {ECO 0000305}. # DrugBank DB00313 Valproic Acid # Ensembl ENST00000354534 ENSP00000346534; ENSG00000196876. [Q9UQD0-1] # Ensembl ENST00000355133 ENSP00000347255; ENSG00000196876. [Q9UQD0-5] # Ensembl ENST00000545061 ENSP00000440360; ENSG00000196876. [Q9UQD0-5] # Ensembl ENST00000599343 ENSP00000476447; ENSG00000196876. [Q9UQD0-3] # Ensembl ENST00000627620 ENSP00000487583; ENSG00000196876. [Q9UQD0-2] # ExpressionAtlas Q9UQD0 baseline and differential # FUNCTION SCN8A_HUMAN Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient. In macrophages and melanoma cells, isoform 5 may participate in the control of podosome and invadopodia formation. {ECO 0000269|PubMed 19136557}. # GO_component GO:0001518 voltage-gated sodium channel complex; IC:UniProtKB. # GO_component GO:0005886 plasma membrane; IBA:GO_Central. # GO_component GO:0016021 integral component of membrane; TAS:ProtInc. # GO_component GO:0016023 cytoplasmic, membrane-bounded vesicle; IEA:UniProtKB-SubCell. # GO_component GO:0030018 Z disc; ISS:BHF-UCL. # GO_component GO:0033268 node of Ranvier; ISS:BHF-UCL. # GO_component GO:0043194 axon initial segment; ISS:BHF-UCL. # GO_function GO:0005248 voltage-gated sodium channel activity; IDA:UniProtKB. # GO_function GO:0005524 ATP binding; IEA:UniProtKB-KW. # GO_process GO:0006814 sodium ion transport; NAS:UniProtKB. # GO_process GO:0007399 nervous system development; TAS:ProtInc. # GO_process GO:0007422 peripheral nervous system development; ISS:BHF-UCL. # GO_process GO:0019228 neuronal action potential; IBA:GO_Central. # GO_process GO:0042552 myelination; ISS:BHF-UCL. # GO_process GO:0086010 membrane depolarization during action potential; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0048856 anatomical structure development # Gene3D 1.20.120.350 -; 4. # Genevisible Q9UQD0 HS # HGNC HGNC:10596 SCN8A # InterPro IPR000048 IQ_motif_EF-hand-BS # InterPro IPR001696 Na_channel_asu # InterPro IPR005821 Ion_trans_dom # InterPro IPR008054 Na_channel_a8su # InterPro IPR010526 Na_trans_assoc # InterPro IPR024583 Na_trans_cytopl # InterPro IPR027359 Channel_four-helix_dom # KEGG_Brite ko04040 Ion channels # MIM 600702 gene # MIM 614306 phenotype # MIM 614558 phenotype # MIM 617080 phenotype # Organism SCN8A_HUMAN Homo sapiens (Human) # Orphanet 1934 Early infantile epileptic encephalopathy # PRINTS PR00170 NACHANNEL # PRINTS PR01667 NACHANNEL8 # PROSITE PS50096 IQ # PTM SCN8A_HUMAN May be ubiquitinated by NEDD4L; which would promote its endocytosis. {ECO 0000250}. # PTM SCN8A_HUMAN Phosphorylation at Ser-1497 by PKC in a highly conserved cytoplasmic loop slows inactivation of the sodium channel and reduces peak sodium currents. {ECO 0000250}. # Pfam PF00520 Ion_trans; 4 # Pfam PF00612 IQ # Pfam PF06512 Na_trans_assoc # Pfam PF11933 Na_trans_cytopl # Proteomes UP000005640 Chromosome 12 # Reactome R-HSA-445095 Interaction between L1 and Ankyrins # Reactome R-HSA-5576892 Phase 0 - rapid depolarisation # RecName SCN8A_HUMAN Sodium channel protein type 8 subunit alpha # RefSeq NP_001171455 NM_001177984.2. [Q9UQD0-5] # RefSeq NP_001317189 NM_001330260.1 # RefSeq NP_055006 NM_014191.3. [Q9UQD0-1] # RefSeq XP_006719619 XM_006719556.3. [Q9UQD0-2] # RefSeq XP_011536953 XM_011538651.2. [Q9UQD0-2] # RefSeq XP_016875283 XM_017019794.1. [Q9UQD0-1] # SIMILARITY Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.6/SCN8A subfamily. {ECO 0000305}. # SIMILARITY Contains 1 IQ domain. {ECO:0000255|PROSITE- ProRule PRU00116, ECO:0000305}. # SMART SM00015 IQ # SUBCELLULAR LOCATION SCN8A_HUMAN Cell membrane {ECO 0000269|PubMed 19136557}; Multi-pass membrane protein {ECO 0000269|PubMed 19136557}. # SUBCELLULAR LOCATION SCN8A_HUMAN Isoform 5 Cytoplasmic vesicle. Note=Some vesicles are localized adjacent to melanoma invadopodia and macrophage podosomes. Does not localize to the plasma membrane. # SUBUNIT SCN8A_HUMAN Interacts with NEDD4 and NEDD4L (By similarity). Interacts with FGF13; may regulate SCN8A activity. Interacts with FGF14, GBG3, GBB2 and SCN1B (PubMed 26900580). {ECO 0000250|UniProtKB Q9WTU3, ECO 0000269|PubMed 15282281, ECO 0000269|PubMed 26900580}. # TCDB 1.A.1.10 the voltage-gated ion channel (vic) superfamily # TISSUE SPECIFICITY Isoform 5 is expressed in non-neuronal tissues, such as monocytes/macrophages. {ECO:0000269|PubMed 19136557}. # UCSC uc001ryw human. [Q9UQD0-1] # eggNOG ENOG410XNP6 LUCA # eggNOG KOG2301 Eukaryota BLAST swissprot:SCN8A_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SCN8A_HUMAN COXPRESdb 6334 http://coxpresdb.jp/data/gene/6334.shtml CleanEx HS_SCN8A http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SCN8A DOI 10.1002/acn3.276 http://dx.doi.org/10.1002/acn3.276 DOI 10.1002/ana.24580 http://dx.doi.org/10.1002/ana.24580 DOI 10.1006/geno.1998.5550 http://dx.doi.org/10.1006/geno.1998.5550 DOI 10.1016/j.ajhg.2012.01.006 http://dx.doi.org/10.1016/j.ajhg.2012.01.006 DOI 10.1016/j.ejpn.2016.04.015 http://dx.doi.org/10.1016/j.ejpn.2016.04.015 DOI 10.1016/j.eplepsyres.2014.08.020 http://dx.doi.org/10.1016/j.eplepsyres.2014.08.020 DOI 10.1016/j.nbd.2014.05.017 http://dx.doi.org/10.1016/j.nbd.2014.05.017 DOI 10.1038/nature04569 http://dx.doi.org/10.1038/nature04569 DOI 10.1074/jbc.272.38.24008 http://dx.doi.org/10.1074/jbc.272.38.24008 DOI 10.1074/jbc.M801892200 http://dx.doi.org/10.1074/jbc.M801892200 DOI 10.1111/epi.12668 http://dx.doi.org/10.1111/epi.12668 DOI 10.1111/epi.12925 http://dx.doi.org/10.1111/epi.12925 DOI 10.1136/jmedgenet-2014-102813 http://dx.doi.org/10.1136/jmedgenet-2014-102813 DOI 10.1136/jmg.2005.035667 http://dx.doi.org/10.1136/jmg.2005.035667 DOI 10.1177/0883073813511300 http://dx.doi.org/10.1177/0883073813511300 DOI 10.1212/WNL.0000000000001211 http://dx.doi.org/10.1212/WNL.0000000000001211 DOI 10.1523/JNEUROSCI.1628-04.2004 http://dx.doi.org/10.1523/JNEUROSCI.1628-04.2004 DrugBank DB00313 http://www.drugbank.ca/drugs/DB00313 EMBL AB027567 http://www.ebi.ac.uk/ena/data/view/AB027567 EMBL AC013421 http://www.ebi.ac.uk/ena/data/view/AC013421 EMBL AC025097 http://www.ebi.ac.uk/ena/data/view/AC025097 EMBL AC068987 http://www.ebi.ac.uk/ena/data/view/AC068987 EMBL AC140060 http://www.ebi.ac.uk/ena/data/view/AC140060 EMBL AF049618 http://www.ebi.ac.uk/ena/data/view/AF049618 EMBL AF050711 http://www.ebi.ac.uk/ena/data/view/AF050711 EMBL AF050712 http://www.ebi.ac.uk/ena/data/view/AF050712 EMBL AF050713 http://www.ebi.ac.uk/ena/data/view/AF050713 EMBL AF050714 http://www.ebi.ac.uk/ena/data/view/AF050714 EMBL AF050715 http://www.ebi.ac.uk/ena/data/view/AF050715 EMBL AF050716 http://www.ebi.ac.uk/ena/data/view/AF050716 EMBL AF050717 http://www.ebi.ac.uk/ena/data/view/AF050717 EMBL AF050718 http://www.ebi.ac.uk/ena/data/view/AF050718 EMBL AF050719 http://www.ebi.ac.uk/ena/data/view/AF050719 EMBL AF050720 http://www.ebi.ac.uk/ena/data/view/AF050720 EMBL AF050721 http://www.ebi.ac.uk/ena/data/view/AF050721 EMBL AF050722 http://www.ebi.ac.uk/ena/data/view/AF050722 EMBL AF050723 http://www.ebi.ac.uk/ena/data/view/AF050723 EMBL AF050724 http://www.ebi.ac.uk/ena/data/view/AF050724 EMBL AF050725 http://www.ebi.ac.uk/ena/data/view/AF050725 EMBL AF050726 http://www.ebi.ac.uk/ena/data/view/AF050726 EMBL AF050727 http://www.ebi.ac.uk/ena/data/view/AF050727 EMBL AF050728 http://www.ebi.ac.uk/ena/data/view/AF050728 EMBL AF050729 http://www.ebi.ac.uk/ena/data/view/AF050729 EMBL AF050730 http://www.ebi.ac.uk/ena/data/view/AF050730 EMBL AF050731 http://www.ebi.ac.uk/ena/data/view/AF050731 EMBL AF050732 http://www.ebi.ac.uk/ena/data/view/AF050732 EMBL AF050733 http://www.ebi.ac.uk/ena/data/view/AF050733 EMBL AF050734 http://www.ebi.ac.uk/ena/data/view/AF050734 EMBL AF050735 http://www.ebi.ac.uk/ena/data/view/AF050735 EMBL AF050736 http://www.ebi.ac.uk/ena/data/view/AF050736 EMBL AF225988 http://www.ebi.ac.uk/ena/data/view/AF225988 EMBL FJ611941 http://www.ebi.ac.uk/ena/data/view/FJ611941 Ensembl ENST00000354534 http://www.ensembl.org/id/ENST00000354534 Ensembl ENST00000355133 http://www.ensembl.org/id/ENST00000355133 Ensembl ENST00000545061 http://www.ensembl.org/id/ENST00000545061 Ensembl ENST00000599343 http://www.ensembl.org/id/ENST00000599343 Ensembl ENST00000627620 http://www.ensembl.org/id/ENST00000627620 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0001518 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001518 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0016023 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016023 GO_component GO:0030018 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030018 GO_component GO:0033268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033268 GO_component GO:0043194 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043194 GO_function GO:0005248 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005248 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_process GO:0006814 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006814 GO_process GO:0007399 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007399 GO_process GO:0007422 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007422 GO_process GO:0019228 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019228 GO_process GO:0042552 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042552 GO_process GO:0086010 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086010 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 Gene3D 1.20.120.350 http://www.cathdb.info/version/latest/superfamily/1.20.120.350 GeneCards SCN8A http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SCN8A GeneID 6334 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6334 GeneTree ENSGT00830000128242 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00830000128242 HGNC HGNC:10596 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10596 HOGENOM HOG000231755 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231755&db=HOGENOM6 HOVERGEN HBG053100 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG053100&db=HOVERGEN InParanoid Q9UQD0 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9UQD0 IntAct Q9UQD0 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9UQD0* InterPro IPR000048 http://www.ebi.ac.uk/interpro/entry/IPR000048 InterPro IPR001696 http://www.ebi.ac.uk/interpro/entry/IPR001696 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR008054 http://www.ebi.ac.uk/interpro/entry/IPR008054 InterPro IPR010526 http://www.ebi.ac.uk/interpro/entry/IPR010526 InterPro IPR024583 http://www.ebi.ac.uk/interpro/entry/IPR024583 InterPro IPR027359 http://www.ebi.ac.uk/interpro/entry/IPR027359 Jabion 6334 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6334 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:6334 http://www.genome.jp/dbget-bin/www_bget?hsa:6334 KEGG_Orthology KO:K04840 http://www.genome.jp/dbget-bin/www_bget?KO:K04840 MIM 600702 http://www.ncbi.nlm.nih.gov/omim/600702 MIM 614306 http://www.ncbi.nlm.nih.gov/omim/614306 MIM 614558 http://www.ncbi.nlm.nih.gov/omim/614558 MIM 617080 http://www.ncbi.nlm.nih.gov/omim/617080 OMA GFICKKT http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=GFICKKT Orphanet 1934 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1934 OrthoDB EOG091G00FK http://cegg.unige.ch/orthodb/results?searchtext=EOG091G00FK PRINTS PR00170 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00170 PRINTS PR01667 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01667 PROSITE PS50096 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50096 PSORT swissprot:SCN8A_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SCN8A_HUMAN PSORT-B swissprot:SCN8A_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SCN8A_HUMAN PSORT2 swissprot:SCN8A_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SCN8A_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF00612 http://pfam.xfam.org/family/PF00612 Pfam PF06512 http://pfam.xfam.org/family/PF06512 Pfam PF11933 http://pfam.xfam.org/family/PF11933 PharmGKB PA35009 http://www.pharmgkb.org/do/serve?objId=PA35009&objCls=Gene Phobius swissprot:SCN8A_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SCN8A_HUMAN PhylomeDB Q9UQD0 http://phylomedb.org/?seqid=Q9UQD0 ProteinModelPortal Q9UQD0 http://www.proteinmodelportal.org/query/uniprot/Q9UQD0 PubMed 15282281 http://www.ncbi.nlm.nih.gov/pubmed/15282281 PubMed 16236810 http://www.ncbi.nlm.nih.gov/pubmed/16236810 PubMed 16541075 http://www.ncbi.nlm.nih.gov/pubmed/16541075 PubMed 19136557 http://www.ncbi.nlm.nih.gov/pubmed/19136557 PubMed 22365152 http://www.ncbi.nlm.nih.gov/pubmed/22365152 PubMed 24352161 http://www.ncbi.nlm.nih.gov/pubmed/24352161 PubMed 24874546 http://www.ncbi.nlm.nih.gov/pubmed/24874546 PubMed 24888894 http://www.ncbi.nlm.nih.gov/pubmed/24888894 PubMed 25239001 http://www.ncbi.nlm.nih.gov/pubmed/25239001 PubMed 25568300 http://www.ncbi.nlm.nih.gov/pubmed/25568300 PubMed 25725044 http://www.ncbi.nlm.nih.gov/pubmed/25725044 PubMed 25785782 http://www.ncbi.nlm.nih.gov/pubmed/25785782 PubMed 26677014 http://www.ncbi.nlm.nih.gov/pubmed/26677014 PubMed 26900580 http://www.ncbi.nlm.nih.gov/pubmed/26900580 PubMed 27210545 http://www.ncbi.nlm.nih.gov/pubmed/27210545 PubMed 9295353 http://www.ncbi.nlm.nih.gov/pubmed/9295353 PubMed 9828131 http://www.ncbi.nlm.nih.gov/pubmed/9828131 Reactome R-HSA-445095 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-445095 Reactome R-HSA-5576892 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576892 RefSeq NP_001171455 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001171455 RefSeq NP_001317189 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001317189 RefSeq NP_055006 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_055006 RefSeq XP_006719619 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006719619 RefSeq XP_011536953 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011536953 RefSeq XP_016875283 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016875283 SMART SM00015 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00015 STRING 9606.ENSP00000346534 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000346534&targetmode=cogs TCDB 1.A.1.10 http://www.tcdb.org/search/result.php?tc=1.A.1.10 UCSC uc001ryw http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001ryw&org=rat UniGene Hs.436550 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.436550 UniGene Hs.710638 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.710638 UniProtKB SCN8A_HUMAN http://www.uniprot.org/uniprot/SCN8A_HUMAN UniProtKB-AC Q9UQD0 http://www.uniprot.org/uniprot/Q9UQD0 charge swissprot:SCN8A_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SCN8A_HUMAN eggNOG ENOG410XNP6 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XNP6 eggNOG KOG2301 http://eggnogapi.embl.de/nog_data/html/tree/KOG2301 epestfind swissprot:SCN8A_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SCN8A_HUMAN garnier swissprot:SCN8A_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SCN8A_HUMAN helixturnhelix swissprot:SCN8A_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SCN8A_HUMAN hmoment swissprot:SCN8A_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SCN8A_HUMAN iep swissprot:SCN8A_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SCN8A_HUMAN inforesidue swissprot:SCN8A_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SCN8A_HUMAN neXtProt NX_Q9UQD0 http://www.nextprot.org/db/entry/NX_Q9UQD0 octanol swissprot:SCN8A_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SCN8A_HUMAN pepcoil swissprot:SCN8A_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SCN8A_HUMAN pepdigest swissprot:SCN8A_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SCN8A_HUMAN pepinfo swissprot:SCN8A_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SCN8A_HUMAN pepnet swissprot:SCN8A_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SCN8A_HUMAN pepstats swissprot:SCN8A_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SCN8A_HUMAN pepwheel swissprot:SCN8A_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SCN8A_HUMAN pepwindow swissprot:SCN8A_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SCN8A_HUMAN sigcleave swissprot:SCN8A_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SCN8A_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS KCNH2_HUMAN Event=Alternative splicing; Named isoforms=6; Comment=Experimental confirmation may be lacking for some isoforms.; Name=A; IsoId=Q12809-1; Sequence=Displayed; Name=B; IsoId=Q12809-2; Sequence=VSP_000965; Name=4; IsoId=Q12809-4; Sequence=VSP_000966; Note=No experimental confirmation available.; Name=A-USO; IsoId=Q12809-5; Sequence=VSP_047880, VSP_047881; Note=Twice more abundant than isoform 1 in heart.; Name=B-USO; IsoId=Q12809-6; Sequence=VSP_047878, VSP_047879, VSP_047880, VSP_047881; Name=3.1; IsoId=Q12809-7; Sequence=VSP_047877; Note=Primate-specific. Lacks a domain that is crucial for slow channel deactivation.; # AltName KCNH2_HUMAN Eag homolog # AltName KCNH2_HUMAN Ether-a-go-go-related gene potassium channel 1 # AltName KCNH2_HUMAN Voltage-gated potassium channel subunit Kv11.1 # BioGrid 109959 21 # CCDS CCDS5910 -. [Q12809-1] # CCDS CCDS5911 -. [Q12809-2] # ChiTaRS KCNH2 human # DISEASE KCNH2_HUMAN Long QT syndrome 2 (LQT2) [MIM 613688] A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. Deafness is often associated with long QT syndrome type 2. {ECO 0000269|PubMed 10086971, ECO 0000269|PubMed 10187793, ECO 0000269|PubMed 10220144, ECO 0000269|PubMed 10517660, ECO 0000269|PubMed 10735633, ECO 0000269|PubMed 10862094, ECO 0000269|PubMed 10973849, ECO 0000269|PubMed 11170080, ECO 0000269|PubMed 12062363, ECO 0000269|PubMed 12354768, ECO 0000269|PubMed 12442276, ECO 0000269|PubMed 12621127, ECO 0000269|PubMed 15051636, ECO 0000269|PubMed 15840476, ECO 0000269|PubMed 16414944, ECO 0000269|PubMed 16922724, ECO 0000269|PubMed 19716085, ECO 0000269|PubMed 22314138, ECO 0000269|PubMed 7889573, ECO 0000269|PubMed 8635257, ECO 0000269|PubMed 8877771, ECO 0000269|PubMed 8914737, ECO 0000269|PubMed 9024139, ECO 0000269|PubMed 9452080, ECO 0000269|PubMed 9544837, ECO 0000269|PubMed 9600240, ECO 0000269|PubMed 9693036}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE KCNH2_HUMAN Short QT syndrome 1 (SQT1) [MIM 609620] A heart disorder characterized by idiopathic persistently and uniformly short QT interval on ECG in the absence of structural heart disease in affected individuals. It causes syncope and sudden death. {ECO 0000269|PubMed 14676148, ECO 0000269|PubMed 15828882}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DOMAIN KCNH2_HUMAN The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position. # DrugBank DB00199 Erythromycin # DrugBank DB00204 Dofetilide # DrugBank DB00276 Amsacrine # DrugBank DB00308 Ibutilide # DrugBank DB00346 Alfuzosin # DrugBank DB00457 Prazosin # DrugBank DB00458 Imipramine # DrugBank DB00477 Chlorpromazine # DrugBank DB00489 Sotalol # DrugBank DB00537 Ciprofloxacin # DrugBank DB00590 Doxazosin # DrugBank DB00604 Cisapride # DrugBank DB00637 Astemizole # DrugBank DB00661 Verapamil # DrugBank DB00679 Thioridazine # DrugBank DB00908 Quinidine # DrugBank DB01100 Pimozide # DrugBank DB01110 Miconazole # DrugBank DB01118 Amiodarone # DrugBank DB01136 Carvedilol # DrugBank DB01142 Doxepin # DrugBank DB01162 Terazosin # DrugBank DB01182 Propafenone # DrugBank DB01211 Clarithromycin # DrugBank DB01218 Halofantrine # DrugBank DB04855 Dronedarone # DrugBank DB06144 Sertindole # Ensembl ENST00000262186 ENSP00000262186; ENSG00000055118. [Q12809-1] # Ensembl ENST00000330883 ENSP00000328531; ENSG00000055118. [Q12809-2] # ExpressionAtlas Q12809 baseline and differential # FUNCTION KCNH2_HUMAN Pore-forming (alpha) subunit of voltage-gated inwardly rectifying potassium channel. Channel properties are modulated by cAMP and subunit assembly. Mediates the rapidly activating component of the delayed rectifying potassium current in heart (IKr). Isoforms USO have no channel activity by themself, but modulates channel characteristics by forming heterotetramers with other isoforms which are retained intracellularly and undergo ubiquitin-dependent degradation. {ECO 0000269|PubMed 18559421}. # GO_component GO:0005886 plasma membrane; IDA:BHF-UCL. # GO_component GO:0008076 voltage-gated potassium channel complex; IDA:BHF-UCL. # GO_component GO:0009986 cell surface; IDA:BHF-UCL. # GO_component GO:0048471 perinuclear region of cytoplasm; IMP:BHF-UCL. # GO_function GO:0000155 phosphorelay sensor kinase activity; IEA:InterPro. # GO_function GO:0005242 inward rectifier potassium channel activity; IDA:BHF-UCL. # GO_function GO:0005249 voltage-gated potassium channel activity; IDA:BHF-UCL. # GO_function GO:0005251 delayed rectifier potassium channel activity; IDA:BHF-UCL. # GO_function GO:0031625 ubiquitin protein ligase binding; IPI:BHF-UCL. # GO_function GO:0042802 identical protein binding; IPI:IntAct. # GO_function GO:0042803 protein homodimerization activity; IPI:BHF-UCL. # GO_function GO:0055131 C3HC4-type RING finger domain binding; IPI:BHF-UCL. # GO_function GO:0086008 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization; IC:BHF-UCL. # GO_function GO:0097110 scaffold protein binding; IPI:BHF-UCL. # GO_function GO:1902282 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization; IMP:BHF-UCL. # GO_process GO:0003064 regulation of heart rate by hormone; TAS:BHF-UCL. # GO_process GO:0035690 cellular response to drug; IDA:BHF-UCL. # GO_process GO:0042391 regulation of membrane potential; IDA:BHF-UCL. # GO_process GO:0055075 potassium ion homeostasis; IDA:BHF-UCL. # GO_process GO:0060048 cardiac muscle contraction; IMP:BHF-UCL. # GO_process GO:0060306 regulation of membrane repolarization; IDA:BHF-UCL. # GO_process GO:0060307 regulation of ventricular cardiac muscle cell membrane repolarization; IMP:BHF-UCL. # GO_process GO:0061337 cardiac conduction; TAS:Reactome. # GO_process GO:0071435 potassium ion export; IDA:BHF-UCL. # GO_process GO:0071805 potassium ion transmembrane transport; IDA:BHF-UCL. # GO_process GO:0086005 ventricular cardiac muscle cell action potential; IMP:BHF-UCL. # GO_process GO:0086010 membrane depolarization during action potential; IDA:BHF-UCL. # GO_process GO:0086011 membrane repolarization during action potential; IDA:BHF-UCL. # GO_process GO:0086013 membrane repolarization during cardiac muscle cell action potential; IMP:BHF-UCL. # GO_process GO:0086091 regulation of heart rate by cardiac conduction; IMP:BHF-UCL. # GO_process GO:0097623 potassium ion export across plasma membrane; IGI:BHF-UCL. # GO_process GO:0098915 membrane repolarization during ventricular cardiac muscle cell action potential; IMP:BHF-UCL. # GO_process GO:1901379 regulation of potassium ion transmembrane transport; IDA:BHF-UCL. # GO_process GO:1901380 negative regulation of potassium ion transmembrane transport; IDA:BHF-UCL. # GO_process GO:1901381 positive regulation of potassium ion transmembrane transport; IDA:BHF-UCL. # GO_process GO:1902303 negative regulation of potassium ion export; IDA:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0016301 kinase activity # GOslim_function GO:0019899 enzyme binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 2.60.120.10 -; 2. # Genevisible Q12809 HS # HGNC HGNC:6251 KCNH2 # INDUCTION Up-regulated by RNF207 (at protein level). {ECO:0000269|PubMed 25281747}. # INTERACTION KCNH2_HUMAN Self; NbExp=6; IntAct=EBI-720643, EBI-720643; Q03135 CAV1; NbExp=5; IntAct=EBI-720643, EBI-603614; # IntAct Q12809 7 # InterPro IPR000014 PAS # InterPro IPR000595 cNMP-bd_dom # InterPro IPR000700 PAS-assoc_C # InterPro IPR001610 PAC # InterPro IPR003938 K_chnl_volt-dep_EAG/ELK/ERG # InterPro IPR003967 K_chnl_volt-dep_ERG # InterPro IPR005821 Ion_trans_dom # InterPro IPR014710 RmlC-like_jellyroll # InterPro IPR018490 cNMP-bd-like # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00720 [Cardiovascular disease] Jervell and Lange-Nielsen syndrome (JLNS) # KEGG_Disease H00725 [Cardiovascular disease] Short QT syndrome # MIM 152427 gene # MIM 609620 phenotype # MIM 613688 phenotype # Organism KCNH2_HUMAN Homo sapiens (Human) # Orphanet 101016 Romano-Ward syndrome # Orphanet 51083 Familial short QT syndrome # PDB 1BYW X-ray; 2.60 A; A=26-135 # PDB 1UJL NMR; -; A=570-611 # PDB 2L0W NMR; -; A=1-135 # PDB 2L1M NMR; -; A=1-135 # PDB 2L4R NMR; -; A=1-135 # PDB 2LE7 NMR; -; A=532-551 # PDB 2N7G NMR; -; A=734-864 # PDB 4HP9 X-ray; 2.12 A; A=10-135 # PDB 4HQA X-ray; 1.96 A; A=1-135 # PIR I38465 I38465 # PRINTS PR01463 EAGCHANLFMLY # PRINTS PR01470 ERGCHANNEL # PROSITE PS50042 CNMP_BINDING_3 # PROSITE PS50112 PAS # PROSITE PS50113 PAC # PTM KCNH2_HUMAN Phosphorylated on serine and threonine residues. Phosphorylation by PKA inhibits ion conduction. {ECO 0000269|PubMed 10837251}. # Pfam PF00027 cNMP_binding # Pfam PF00520 Ion_trans # Pfam PF13426 PAS_9 # Proteomes UP000005640 Chromosome 7 # Reactome R-HSA-1296072 Voltage gated Potassium channels # Reactome R-HSA-5576890 Phase 3 - rapid repolarisation # RecName KCNH2_HUMAN Potassium voltage-gated channel subfamily H member 2 # RefSeq NP_000229 NM_000238.3. [Q12809-1] # RefSeq NP_001191727 NM_001204798.1. [Q12809-6] # RefSeq NP_742053 NM_172056.2. [Q12809-5] # RefSeq NP_742054 NM_172057.2. [Q12809-2] # SEQUENCE CAUTION Sequence=CAA09232.1; Type=Erroneous gene model prediction; Evidence={ECO 0000305}; # SIMILARITY Belongs to the potassium channel family. H (Eag) (TC 1.A.1.20) subfamily. Kv11.1/KCNH2 sub-subfamily. {ECO 0000305}. # SIMILARITY Contains 1 PAC (PAS-associated C-terminal) domain. {ECO:0000255|PROSITE-ProRule PRU00141}. # SIMILARITY Contains 1 PAS (PER-ARNT-SIM) domain. {ECO:0000255|PROSITE-ProRule PRU00140}. # SIMILARITY Contains 1 cyclic nucleotide-binding domain. {ECO:0000255|PROSITE-ProRule PRU00060}. # SMART SM00086 PAC # SMART SM00100 cNMP # SUBCELLULAR LOCATION KCNH2_HUMAN Cell membrane {ECO 0000269|PubMed 18559421, ECO 0000269|PubMed 19412172}; Multi-pass membrane protein {ECO 0000269|PubMed 18559421, ECO 0000269|PubMed 19412172}. # SUBUNIT KCNH2_HUMAN The potassium channel is probably composed of a homo- or heterotetrameric complex of pore-forming alpha subunits that can associate with modulating beta subunits. Heteromultimer with KCNH6/ERG2 and KCNH7/ERG3 (By similarity). Interacts with ALG10B (By similarity). Heteromultimer with KCNE1 and KCNE2 (PubMed 9230439, PubMed 10219239). Interacts with CANX (PubMed 16361248). The core-glycosylated, but not the fully glycosylated form interacts with RNF207 (PubMed 25281747). {ECO 0000250|UniProtKB O08962, ECO 0000269|PubMed 10219239, ECO 0000269|PubMed 16361248, ECO 0000269|PubMed 25281747, ECO 0000269|PubMed 9230439}. # SUPFAM SSF51206 SSF51206 # SUPFAM SSF55785 SSF55785 # TCDB 1.A.1.20 the voltage-gated ion channel (vic) superfamily # TIGRFAMs TIGR00229 sensory_box # TISSUE SPECIFICITY Highly expressed in heart and brain. Isoforms USO are frequently overexpressed in cancer cells. {ECO:0000269|PubMed 18559421}. # UCSC uc003wib human. [Q12809-1] # WEB RESOURCE KCNH2_HUMAN Name=Wikipedia; Note=Ether-a-go-go potassium channels entry; URL="https //en.wikipedia.org/wiki/Ether-a-go-go_potassium_channels"; # eggNOG ENOG410XPSE LUCA # eggNOG KOG0498 Eukaryota BLAST swissprot:KCNH2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCNH2_HUMAN BioCyc ZFISH:ENSG00000055118-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000055118-MONOMER COXPRESdb 3757 http://coxpresdb.jp/data/gene/3757.shtml CleanEx HS_ERG http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ERG CleanEx HS_KCNH2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNH2 DIP DIP-48929N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-48929N DOI 10.1001/jama.294.23.2975 http://dx.doi.org/10.1001/jama.294.23.2975 DOI 10.1002/(SICI)1096-8628(19961002)65:1<27::AID-AJMG4>3.3.CO http://dx.doi.org/10.1002/(SICI)1096-8628(19961002)65:1<27::AID-AJMG4>3.3.CO DOI 10.1002/(SICI)1098-1004(1999)13:4<301::AID-HUMU7>3.0.CO http://dx.doi.org/10.1002/(SICI)1098-1004(1999)13:4<301::AID-HUMU7>3.0.CO DOI 10.1002/(SICI)1098-1004(200005)15:5<483::AID-HUMU18>3.3.CO http://dx.doi.org/10.1002/(SICI)1098-1004(200005)15:5<483::AID-HUMU18>3.3.CO DOI 10.1002/1096-8628(20010201)98:4<348::AID-AJMG1109>3.0.CO http://dx.doi.org/10.1002/1096-8628(20010201)98:4<348::AID-AJMG1109>3.0.CO DOI 10.1002/1098-1004(200006)15:6<580::AID-HUMU16>3.3.CO http://dx.doi.org/10.1002/1098-1004(200006)15:6<580::AID-HUMU16>3.3.CO DOI 10.1002/humu.9085 http://dx.doi.org/10.1002/humu.9085 DOI 10.1006/geno.1998.5361 http://dx.doi.org/10.1006/geno.1998.5361 DOI 10.1006/geno.2001.6527 http://dx.doi.org/10.1006/geno.2001.6527 DOI 10.1006/jmcc.1996.0151 http://dx.doi.org/10.1006/jmcc.1996.0151 DOI 10.1007/s004390050690 http://dx.doi.org/10.1007/s004390050690 DOI 10.1007/s004390050717 http://dx.doi.org/10.1007/s004390050717 DOI 10.1016/0092-8674(95)90358-5 http://dx.doi.org/10.1016/0092-8674(95)90358-5 DOI 10.1016/S0008-6363(02)00240-7 http://dx.doi.org/10.1016/S0008-6363(02)00240-7 DOI 10.1016/S0092-8674(00)80728-X http://dx.doi.org/10.1016/S0092-8674(00)80728-X DOI 10.1016/S0092-8674(00)81635-9 http://dx.doi.org/10.1016/S0092-8674(00)81635-9 DOI 10.1016/S0960-9822(00)00516-9 http://dx.doi.org/10.1016/S0960-9822(00)00516-9 DOI 10.1016/j.bbrc.2012.01.118 http://dx.doi.org/10.1016/j.bbrc.2012.01.118 DOI 10.1016/j.hrthm.2005.01.020 http://dx.doi.org/10.1016/j.hrthm.2005.01.020 DOI 10.1016/j.hrthm.2009.05.021 http://dx.doi.org/10.1016/j.hrthm.2009.05.021 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1034/j.1399-0004.2000.570206.x http://dx.doi.org/10.1034/j.1399-0004.2000.570206.x DOI 10.1038/40882 http://dx.doi.org/10.1038/40882 DOI 10.1038/nature01782 http://dx.doi.org/10.1038/nature01782 DOI 10.1038/nm.1962 http://dx.doi.org/10.1038/nm.1962 DOI 10.1046/j.1540-8167.2005.40621.x http://dx.doi.org/10.1046/j.1540-8167.2005.40621.x DOI 10.1073/pnas.91.8.3438 http://dx.doi.org/10.1073/pnas.91.8.3438 DOI 10.1074/jbc.273.42.27231 http://dx.doi.org/10.1074/jbc.273.42.27231 DOI 10.1074/jbc.274.15.10113 http://dx.doi.org/10.1074/jbc.274.15.10113 DOI 10.1074/jbc.275.15.11241 http://dx.doi.org/10.1074/jbc.275.15.11241 DOI 10.1074/jbc.M114.592295 http://dx.doi.org/10.1074/jbc.M114.592295 DOI 10.1074/jbc.M206569200 http://dx.doi.org/10.1074/jbc.M206569200 DOI 10.1074/jbc.M210789200 http://dx.doi.org/10.1074/jbc.M210789200 DOI 10.1074/jbc.M511765200 http://dx.doi.org/10.1074/jbc.M511765200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1399-0004.2006.00671.x http://dx.doi.org/10.1111/j.1399-0004.2006.00671.x DOI 10.1111/j.1540-8167.1999.tb00304.x http://dx.doi.org/10.1111/j.1540-8167.1999.tb00304.x DOI 10.1126/scisignal.2000007 http://dx.doi.org/10.1126/scisignal.2000007 DOI 10.1128/MCB.00304-08 http://dx.doi.org/10.1128/MCB.00304-08 DOI 10.1152/ajpheart.00008.2002 http://dx.doi.org/10.1152/ajpheart.00008.2002 DOI 10.1161/01.CIR.0000014448.19052.4C http://dx.doi.org/10.1161/01.CIR.0000014448.19052.4C DOI 10.1161/01.CIR.0000109482.92774.3A http://dx.doi.org/10.1161/01.CIR.0000109482.92774.3A DOI 10.1161/01.CIR.0000125524.34234.13 http://dx.doi.org/10.1161/01.CIR.0000125524.34234.13 DOI 10.1161/01.CIR.102.10.1178 http://dx.doi.org/10.1161/01.CIR.102.10.1178 DOI 10.1161/01.CIR.93.10.1791 http://dx.doi.org/10.1161/01.CIR.93.10.1791 DOI 10.1161/01.CIR.95.3.565 http://dx.doi.org/10.1161/01.CIR.95.3.565 DOI 10.1161/01.CIR.99.11.1464 http://dx.doi.org/10.1161/01.CIR.99.11.1464 DOI 10.1161/01.RES.81.5.719 http://dx.doi.org/10.1161/01.RES.81.5.719 DOI 10.1161/01.RES.81.5.870 http://dx.doi.org/10.1161/01.RES.81.5.870 DOI 10.1203/01.PDR.0000059750.17002.B6 http://dx.doi.org/10.1203/01.PDR.0000059750.17002.B6 DrugBank DB00199 http://www.drugbank.ca/drugs/DB00199 DrugBank DB00204 http://www.drugbank.ca/drugs/DB00204 DrugBank DB00276 http://www.drugbank.ca/drugs/DB00276 DrugBank DB00308 http://www.drugbank.ca/drugs/DB00308 DrugBank DB00346 http://www.drugbank.ca/drugs/DB00346 DrugBank DB00457 http://www.drugbank.ca/drugs/DB00457 DrugBank DB00458 http://www.drugbank.ca/drugs/DB00458 DrugBank DB00477 http://www.drugbank.ca/drugs/DB00477 DrugBank DB00489 http://www.drugbank.ca/drugs/DB00489 DrugBank DB00537 http://www.drugbank.ca/drugs/DB00537 DrugBank DB00590 http://www.drugbank.ca/drugs/DB00590 DrugBank DB00604 http://www.drugbank.ca/drugs/DB00604 DrugBank DB00637 http://www.drugbank.ca/drugs/DB00637 DrugBank DB00661 http://www.drugbank.ca/drugs/DB00661 DrugBank DB00679 http://www.drugbank.ca/drugs/DB00679 DrugBank DB00908 http://www.drugbank.ca/drugs/DB00908 DrugBank DB01100 http://www.drugbank.ca/drugs/DB01100 DrugBank DB01110 http://www.drugbank.ca/drugs/DB01110 DrugBank DB01118 http://www.drugbank.ca/drugs/DB01118 DrugBank DB01136 http://www.drugbank.ca/drugs/DB01136 DrugBank DB01142 http://www.drugbank.ca/drugs/DB01142 DrugBank DB01162 http://www.drugbank.ca/drugs/DB01162 DrugBank DB01182 http://www.drugbank.ca/drugs/DB01182 DrugBank DB01211 http://www.drugbank.ca/drugs/DB01211 DrugBank DB01218 http://www.drugbank.ca/drugs/DB01218 DrugBank DB04855 http://www.drugbank.ca/drugs/DB04855 DrugBank DB06144 http://www.drugbank.ca/drugs/DB06144 EMBL AB009071 http://www.ebi.ac.uk/ena/data/view/AB009071 EMBL AB044806 http://www.ebi.ac.uk/ena/data/view/AB044806 EMBL AC006343 http://www.ebi.ac.uk/ena/data/view/AC006343 EMBL AC011234 http://www.ebi.ac.uk/ena/data/view/AC011234 EMBL AF052728 http://www.ebi.ac.uk/ena/data/view/AF052728 EMBL AF363636 http://www.ebi.ac.uk/ena/data/view/AF363636 EMBL AJ010538 http://www.ebi.ac.uk/ena/data/view/AJ010538 EMBL AJ010539 http://www.ebi.ac.uk/ena/data/view/AJ010539 EMBL AJ010540 http://www.ebi.ac.uk/ena/data/view/AJ010540 EMBL AJ010541 http://www.ebi.ac.uk/ena/data/view/AJ010541 EMBL AJ010542 http://www.ebi.ac.uk/ena/data/view/AJ010542 EMBL AJ010543 http://www.ebi.ac.uk/ena/data/view/AJ010543 EMBL AJ010544 http://www.ebi.ac.uk/ena/data/view/AJ010544 EMBL AJ010545 http://www.ebi.ac.uk/ena/data/view/AJ010545 EMBL AJ010546 http://www.ebi.ac.uk/ena/data/view/AJ010546 EMBL AJ010547 http://www.ebi.ac.uk/ena/data/view/AJ010547 EMBL AJ010548 http://www.ebi.ac.uk/ena/data/view/AJ010548 EMBL AJ010549 http://www.ebi.ac.uk/ena/data/view/AJ010549 EMBL AJ010550 http://www.ebi.ac.uk/ena/data/view/AJ010550 EMBL AJ010551 http://www.ebi.ac.uk/ena/data/view/AJ010551 EMBL AJ512214 http://www.ebi.ac.uk/ena/data/view/AJ512214 EMBL AJ609614 http://www.ebi.ac.uk/ena/data/view/AJ609614 EMBL BC001914 http://www.ebi.ac.uk/ena/data/view/BC001914 EMBL BC004311 http://www.ebi.ac.uk/ena/data/view/BC004311 EMBL CH471173 http://www.ebi.ac.uk/ena/data/view/CH471173 EMBL CH471173 http://www.ebi.ac.uk/ena/data/view/CH471173 EMBL DQ784808 http://www.ebi.ac.uk/ena/data/view/DQ784808 EMBL FJ938021 http://www.ebi.ac.uk/ena/data/view/FJ938021 EMBL U04270 http://www.ebi.ac.uk/ena/data/view/U04270 Ensembl ENST00000262186 http://www.ensembl.org/id/ENST00000262186 Ensembl ENST00000330883 http://www.ensembl.org/id/ENST00000330883 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0008076 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008076 GO_component GO:0009986 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009986 GO_component GO:0048471 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048471 GO_function GO:0000155 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000155 GO_function GO:0005242 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005242 GO_function GO:0005249 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005249 GO_function GO:0005251 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005251 GO_function GO:0031625 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031625 GO_function GO:0042802 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042802 GO_function GO:0042803 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042803 GO_function GO:0055131 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055131 GO_function GO:0086008 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086008 GO_function GO:0097110 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097110 GO_function GO:1902282 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902282 GO_process GO:0003064 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003064 GO_process GO:0035690 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035690 GO_process GO:0042391 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042391 GO_process GO:0055075 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055075 GO_process GO:0060048 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060048 GO_process GO:0060306 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060306 GO_process GO:0060307 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060307 GO_process GO:0061337 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061337 GO_process GO:0071435 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071435 GO_process GO:0071805 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071805 GO_process GO:0086005 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086005 GO_process GO:0086010 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086010 GO_process GO:0086011 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086011 GO_process GO:0086013 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086013 GO_process GO:0086091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086091 GO_process GO:0097623 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097623 GO_process GO:0098915 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0098915 GO_process GO:1901379 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1901379 GO_process GO:1901380 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1901380 GO_process GO:1901381 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1901381 GO_process GO:1902303 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902303 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0016301 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016301 GOslim_function GO:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 2.60.120.10 http://www.cathdb.info/version/latest/superfamily/2.60.120.10 GeneCards KCNH2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNH2 GeneID 3757 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=3757 GeneTree ENSGT00760000118772 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118772 HGNC HGNC:6251 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6251 HOGENOM HOG000207541 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000207541&db=HOGENOM6 HOVERGEN HBG052232 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052232&db=HOVERGEN HPA CAB006838 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB006838 HPA HPA040783 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA040783 HPA HPA056584 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA056584 InParanoid Q12809 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q12809 IntAct Q12809 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q12809* InterPro IPR000014 http://www.ebi.ac.uk/interpro/entry/IPR000014 InterPro IPR000595 http://www.ebi.ac.uk/interpro/entry/IPR000595 InterPro IPR000700 http://www.ebi.ac.uk/interpro/entry/IPR000700 InterPro IPR001610 http://www.ebi.ac.uk/interpro/entry/IPR001610 InterPro IPR003938 http://www.ebi.ac.uk/interpro/entry/IPR003938 InterPro IPR003967 http://www.ebi.ac.uk/interpro/entry/IPR003967 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR014710 http://www.ebi.ac.uk/interpro/entry/IPR014710 InterPro IPR018490 http://www.ebi.ac.uk/interpro/entry/IPR018490 Jabion 3757 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=3757 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00720 http://www.genome.jp/dbget-bin/www_bget?H00720 KEGG_Disease H00725 http://www.genome.jp/dbget-bin/www_bget?H00725 KEGG_Gene hsa:3757 http://www.genome.jp/dbget-bin/www_bget?hsa:3757 KEGG_Orthology KO:K04905 http://www.genome.jp/dbget-bin/www_bget?KO:K04905 MIM 152427 http://www.ncbi.nlm.nih.gov/omim/152427 MIM 609620 http://www.ncbi.nlm.nih.gov/omim/609620 MIM 613688 http://www.ncbi.nlm.nih.gov/omim/613688 MINT MINT-1427435 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1427435 OMA FMAFEEL http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=FMAFEEL Orphanet 101016 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=101016 Orphanet 51083 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=51083 OrthoDB EOG091G024C http://cegg.unige.ch/orthodb/results?searchtext=EOG091G024C PDB 1BYW http://www.ebi.ac.uk/pdbe-srv/view/entry/1BYW PDB 1UJL http://www.ebi.ac.uk/pdbe-srv/view/entry/1UJL PDB 2L0W http://www.ebi.ac.uk/pdbe-srv/view/entry/2L0W PDB 2L1M http://www.ebi.ac.uk/pdbe-srv/view/entry/2L1M PDB 2L4R http://www.ebi.ac.uk/pdbe-srv/view/entry/2L4R PDB 2LE7 http://www.ebi.ac.uk/pdbe-srv/view/entry/2LE7 PDB 2N7G http://www.ebi.ac.uk/pdbe-srv/view/entry/2N7G PDB 4HP9 http://www.ebi.ac.uk/pdbe-srv/view/entry/4HP9 PDB 4HQA http://www.ebi.ac.uk/pdbe-srv/view/entry/4HQA PDBsum 1BYW http://www.ebi.ac.uk/pdbsum/1BYW PDBsum 1UJL http://www.ebi.ac.uk/pdbsum/1UJL PDBsum 2L0W http://www.ebi.ac.uk/pdbsum/2L0W PDBsum 2L1M http://www.ebi.ac.uk/pdbsum/2L1M PDBsum 2L4R http://www.ebi.ac.uk/pdbsum/2L4R PDBsum 2LE7 http://www.ebi.ac.uk/pdbsum/2LE7 PDBsum 2N7G http://www.ebi.ac.uk/pdbsum/2N7G PDBsum 4HP9 http://www.ebi.ac.uk/pdbsum/4HP9 PDBsum 4HQA http://www.ebi.ac.uk/pdbsum/4HQA PRINTS PR01463 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01463 PRINTS PR01470 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01470 PROSITE PS50042 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50042 PROSITE PS50112 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50112 PROSITE PS50113 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50113 PSORT swissprot:KCNH2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCNH2_HUMAN PSORT-B swissprot:KCNH2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCNH2_HUMAN PSORT2 swissprot:KCNH2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCNH2_HUMAN Pfam PF00027 http://pfam.xfam.org/family/PF00027 Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF13426 http://pfam.xfam.org/family/PF13426 PharmGKB PA212 http://www.pharmgkb.org/do/serve?objId=PA212&objCls=Gene Phobius swissprot:KCNH2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCNH2_HUMAN PhylomeDB Q12809 http://phylomedb.org/?seqid=Q12809 ProteinModelPortal Q12809 http://www.proteinmodelportal.org/query/uniprot/Q12809 PubMed 10086971 http://www.ncbi.nlm.nih.gov/pubmed/10086971 PubMed 10187793 http://www.ncbi.nlm.nih.gov/pubmed/10187793 PubMed 10219239 http://www.ncbi.nlm.nih.gov/pubmed/10219239 PubMed 10220144 http://www.ncbi.nlm.nih.gov/pubmed/10220144 PubMed 10517660 http://www.ncbi.nlm.nih.gov/pubmed/10517660 PubMed 10735633 http://www.ncbi.nlm.nih.gov/pubmed/10735633 PubMed 10753933 http://www.ncbi.nlm.nih.gov/pubmed/10753933 PubMed 10790218 http://www.ncbi.nlm.nih.gov/pubmed/10790218 PubMed 10837251 http://www.ncbi.nlm.nih.gov/pubmed/10837251 PubMed 10862094 http://www.ncbi.nlm.nih.gov/pubmed/10862094 PubMed 10973849 http://www.ncbi.nlm.nih.gov/pubmed/10973849 PubMed 11170080 http://www.ncbi.nlm.nih.gov/pubmed/11170080 PubMed 11374908 http://www.ncbi.nlm.nih.gov/pubmed/11374908 PubMed 11997281 http://www.ncbi.nlm.nih.gov/pubmed/11997281 PubMed 12062363 http://www.ncbi.nlm.nih.gov/pubmed/12062363 PubMed 12063277 http://www.ncbi.nlm.nih.gov/pubmed/12063277 PubMed 12354768 http://www.ncbi.nlm.nih.gov/pubmed/12354768 PubMed 12431979 http://www.ncbi.nlm.nih.gov/pubmed/12431979 PubMed 12442276 http://www.ncbi.nlm.nih.gov/pubmed/12442276 PubMed 12621127 http://www.ncbi.nlm.nih.gov/pubmed/12621127 PubMed 12853948 http://www.ncbi.nlm.nih.gov/pubmed/12853948 PubMed 14676148 http://www.ncbi.nlm.nih.gov/pubmed/14676148 PubMed 15051636 http://www.ncbi.nlm.nih.gov/pubmed/15051636 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15828882 http://www.ncbi.nlm.nih.gov/pubmed/15828882 PubMed 15840476 http://www.ncbi.nlm.nih.gov/pubmed/15840476 PubMed 16361248 http://www.ncbi.nlm.nih.gov/pubmed/16361248 PubMed 16414944 http://www.ncbi.nlm.nih.gov/pubmed/16414944 PubMed 16922724 http://www.ncbi.nlm.nih.gov/pubmed/16922724 PubMed 18559421 http://www.ncbi.nlm.nih.gov/pubmed/18559421 PubMed 19412172 http://www.ncbi.nlm.nih.gov/pubmed/19412172 PubMed 19690332 http://www.ncbi.nlm.nih.gov/pubmed/19690332 PubMed 19716085 http://www.ncbi.nlm.nih.gov/pubmed/19716085 PubMed 22314138 http://www.ncbi.nlm.nih.gov/pubmed/22314138 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 25281747 http://www.ncbi.nlm.nih.gov/pubmed/25281747 PubMed 7889573 http://www.ncbi.nlm.nih.gov/pubmed/7889573 PubMed 8159766 http://www.ncbi.nlm.nih.gov/pubmed/8159766 PubMed 8635257 http://www.ncbi.nlm.nih.gov/pubmed/8635257 PubMed 8877771 http://www.ncbi.nlm.nih.gov/pubmed/8877771 PubMed 8914737 http://www.ncbi.nlm.nih.gov/pubmed/8914737 PubMed 9024139 http://www.ncbi.nlm.nih.gov/pubmed/9024139 PubMed 9230439 http://www.ncbi.nlm.nih.gov/pubmed/9230439 PubMed 9351446 http://www.ncbi.nlm.nih.gov/pubmed/9351446 PubMed 9351462 http://www.ncbi.nlm.nih.gov/pubmed/9351462 PubMed 9452080 http://www.ncbi.nlm.nih.gov/pubmed/9452080 PubMed 9544837 http://www.ncbi.nlm.nih.gov/pubmed/9544837 PubMed 9600240 http://www.ncbi.nlm.nih.gov/pubmed/9600240 PubMed 9693036 http://www.ncbi.nlm.nih.gov/pubmed/9693036 PubMed 9765245 http://www.ncbi.nlm.nih.gov/pubmed/9765245 PubMed 9845367 http://www.ncbi.nlm.nih.gov/pubmed/9845367 Reactome R-HSA-1296072 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1296072 Reactome R-HSA-5576890 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576890 RefSeq NP_000229 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000229 RefSeq NP_001191727 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001191727 RefSeq NP_742053 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_742053 RefSeq NP_742054 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_742054 SMART SM00086 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00086 SMART SM00100 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00100 SMR Q12809 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q12809 STRING 9606.ENSP00000262186 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000262186&targetmode=cogs SUPFAM SSF51206 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF51206 SUPFAM SSF55785 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF55785 TCDB 1.A.1.20 http://www.tcdb.org/search/result.php?tc=1.A.1.20 TIGRFAMs TIGR00229 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00229 UCSC uc003wib http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003wib&org=rat UniGene Hs.647099 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.647099 UniProtKB KCNH2_HUMAN http://www.uniprot.org/uniprot/KCNH2_HUMAN UniProtKB-AC Q12809 http://www.uniprot.org/uniprot/Q12809 charge swissprot:KCNH2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCNH2_HUMAN eggNOG ENOG410XPSE http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XPSE eggNOG KOG0498 http://eggnogapi.embl.de/nog_data/html/tree/KOG0498 epestfind swissprot:KCNH2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCNH2_HUMAN garnier swissprot:KCNH2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCNH2_HUMAN helixturnhelix swissprot:KCNH2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCNH2_HUMAN hmoment swissprot:KCNH2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCNH2_HUMAN iep swissprot:KCNH2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCNH2_HUMAN inforesidue swissprot:KCNH2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCNH2_HUMAN neXtProt NX_Q12809 http://www.nextprot.org/db/entry/NX_Q12809 octanol swissprot:KCNH2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCNH2_HUMAN pepcoil swissprot:KCNH2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCNH2_HUMAN pepdigest swissprot:KCNH2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCNH2_HUMAN pepinfo swissprot:KCNH2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCNH2_HUMAN pepnet swissprot:KCNH2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCNH2_HUMAN pepstats swissprot:KCNH2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCNH2_HUMAN pepwheel swissprot:KCNH2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCNH2_HUMAN pepwindow swissprot:KCNH2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCNH2_HUMAN sigcleave swissprot:KCNH2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCNH2_HUMAN ## Database ID URL or Descriptions # AltName CALRL_HUMAN Calcitonin receptor-like receptor # BioGrid 115498 4 # Ensembl ENST00000392370 ENSP00000376177; ENSG00000064989 # Ensembl ENST00000409998 ENSP00000386972; ENSG00000064989 # Ensembl ENST00000410068 ENSP00000387190; ENSG00000064989 # ExpressionAtlas Q16602 baseline and differential # FUNCTION CALRL_HUMAN Receptor for calcitonin-gene-related peptide (CGRP) together with RAMP1 and receptor for adrenomedullin together with RAMP3 (By similarity). Receptor for adrenomedullin together with RAMP2. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase. {ECO 0000250, ECO 0000269|PubMed 22102369}. # GO_component GO:0005764 lysosome; IDA:UniProtKB. # GO_component GO:0005768 endosome; IDA:UniProtKB. # GO_component GO:0005783 endoplasmic reticulum; IDA:UniProtKB. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_function GO:0001605 adrenomedullin receptor activity; IDA:UniProtKB. # GO_function GO:0001635 calcitonin gene-related peptide receptor activity; IEA:Ensembl. # GO_function GO:0004930 G-protein coupled receptor activity; TAS:ProtInc. # GO_function GO:0004948 calcitonin receptor activity; IEA:InterPro. # GO_function GO:0008565 protein transporter activity; IDA:UniProtKB. # GO_process GO:0001525 angiogenesis; IDA:UniProtKB. # GO_process GO:0006171 cAMP biosynthetic process; IDA:UniProtKB. # GO_process GO:0006816 calcium ion transport; IDA:UniProtKB. # GO_process GO:0007166 cell surface receptor signaling pathway; IEA:InterPro. # GO_process GO:0007187 G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger; TAS:ProtInc. # GO_process GO:0007189 adenylate cyclase-activating G-protein coupled receptor signaling pathway; IEA:Ensembl. # GO_process GO:0007507 heart development; IEA:Ensembl. # GO_process GO:0015031 protein transport; IDA:UniProtKB. # GO_process GO:0030819 positive regulation of cAMP biosynthetic process; IDA:UniProtKB. # GO_process GO:0031623 receptor internalization; IDA:UniProtKB. # GO_process GO:0045986 negative regulation of smooth muscle contraction; IEA:Ensembl. # GO_process GO:0048661 positive regulation of smooth muscle cell proliferation; IEA:Ensembl. # GO_process GO:0050728 negative regulation of inflammatory response; IEA:Ensembl. # GO_process GO:0071329 cellular response to sucrose stimulus; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005764 lysosome # GOslim_component GO:0005768 endosome # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0008565 protein transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0016192 vesicle-mediated transport # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0044281 small molecule metabolic process # GOslim_process GO:0048646 anatomical structure formation involved in morphogenesis # GOslim_process GO:0048856 anatomical structure development # Genevisible Q16602 HS # HGNC HGNC:16709 CALCRL # INTERACTION CALRL_HUMAN P06881 CALCA; NbExp=2; IntAct=EBI-962878, EBI-962928; O60895 RAMP2; NbExp=6; IntAct=EBI-962878, EBI-9009040; # IntAct Q16602 4 # InterPro IPR000832 GPCR_2_secretin-like # InterPro IPR001879 GPCR_2_extracellular_dom # InterPro IPR003287 GCPR_2_calcitonin_rcpt_fam # InterPro IPR003289 GPCR_2_CGRP1_rcpt # InterPro IPR017981 GPCR_2-like # InterPro IPR017983 GPCR_2_secretin-like_CS # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04030 G protein-coupled receptors # KEGG_Pathway ko04080 Neuroactive ligand-receptor interaction # KEGG_Pathway ko04270 Vascular smooth muscle contraction # MIM 114190 gene # Organism CALRL_HUMAN Homo sapiens (Human) # PDB 3AQF X-ray; 2.60 A; B=23-136 # PDB 3N7P X-ray; 2.80 A; A/B/C/J=23-133 # PDB 3N7R X-ray; 2.90 A; A/B=23-133 # PDB 3N7S X-ray; 2.10 A; A/B=23-133 # PDB 4RWF X-ray; 1.76 A; A=31-116 # PDB 4RWG X-ray; 2.44 A; A/B/C=31-114 # PIR JC2477 JC2477 # PRINTS PR00249 GPCRSECRETIN # PRINTS PR01350 CTRFAMILY # PRINTS PR01351 CGRPRECEPTOR # PROSITE PS00649 G_PROTEIN_RECEP_F2_1 # PROSITE PS00650 G_PROTEIN_RECEP_F2_2 # PROSITE PS50227 G_PROTEIN_RECEP_F2_3 # PROSITE PS50261 G_PROTEIN_RECEP_F2_4 # Pfam PF00002 7tm_2 # Pfam PF02793 HRM # Proteomes UP000005640 Chromosome 2 # Reactome R-HSA-418555 G alpha (s) signalling events # Reactome R-HSA-419812 Calcitonin-like ligand receptors # RecName CALRL_HUMAN Calcitonin gene-related peptide type 1 receptor # RefSeq NP_001258680 NM_001271751.1 # RefSeq NP_005786 NM_005795.5 # SEQUENCE CAUTION Sequence=BAF84319.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the G-protein coupled receptor 2 family. {ECO 0000305}. # SMART SM00008 HormR # SUBCELLULAR LOCATION CALRL_HUMAN Cell membrane; Multi-pass membrane protein. # SUBUNIT CALRL_HUMAN Heterodimer of CALCRL and RAMP3 (By similarity). Heterodimer of CALCRL and RAMP1 or CALCRL and RAMP2. {ECO 0000250, ECO 0000269|PubMed 20826335, ECO 0000269|PubMed 22102369}. # TCDB 9.A.14.4.12 the g-protein-coupled receptor (gpcr) family # TISSUE SPECIFICITY CALRL_HUMAN Predominantly expressed in the lung and heart. # UCSC uc002upv human # eggNOG ENOG410XRS2 LUCA # eggNOG KOG4564 Eukaryota BLAST swissprot:CALRL_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CALRL_HUMAN BioCyc ZFISH:ENSG00000064989-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000064989-MONOMER COXPRESdb 10203 http://coxpresdb.jp/data/gene/10203.shtml CleanEx HS_CALCRL http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CALCRL DIP DIP-37674N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-37674N DOI 10.1002/pro.2003 http://dx.doi.org/10.1002/pro.2003 DOI 10.1006/bbrc.1995.1047 http://dx.doi.org/10.1006/bbrc.1995.1047 DOI 10.1016/j.str.2010.05.014 http://dx.doi.org/10.1016/j.str.2010.05.014 DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.271.19.11325 http://dx.doi.org/10.1074/jbc.271.19.11325 DOI 10.1110/ps.04682504 http://dx.doi.org/10.1110/ps.04682504 EMBL AC007319 http://www.ebi.ac.uk/ena/data/view/AC007319 EMBL AC074020 http://www.ebi.ac.uk/ena/data/view/AC074020 EMBL AK291630 http://www.ebi.ac.uk/ena/data/view/AK291630 EMBL AK292998 http://www.ebi.ac.uk/ena/data/view/AK292998 EMBL AY389506 http://www.ebi.ac.uk/ena/data/view/AY389506 EMBL L76380 http://www.ebi.ac.uk/ena/data/view/L76380 EMBL U17473 http://www.ebi.ac.uk/ena/data/view/U17473 Ensembl ENST00000392370 http://www.ensembl.org/id/ENST00000392370 Ensembl ENST00000409998 http://www.ensembl.org/id/ENST00000409998 Ensembl ENST00000410068 http://www.ensembl.org/id/ENST00000410068 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005764 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005764 GO_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GO_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0001605 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001605 GO_function GO:0001635 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001635 GO_function GO:0004930 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004930 GO_function GO:0004948 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004948 GO_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GO_process GO:0001525 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001525 GO_process GO:0006171 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006171 GO_process GO:0006816 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006816 GO_process GO:0007166 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007166 GO_process GO:0007187 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007187 GO_process GO:0007189 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007189 GO_process GO:0007507 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007507 GO_process GO:0015031 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015031 GO_process GO:0030819 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030819 GO_process GO:0031623 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031623 GO_process GO:0045986 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045986 GO_process GO:0048661 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048661 GO_process GO:0050728 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050728 GO_process GO:0071329 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071329 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005764 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005764 GOslim_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0016192 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016192 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GOslim_process GO:0048646 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048646 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GeneCards CALCRL http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CALCRL GeneID 10203 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=10203 HGNC HGNC:16709 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:16709 HOVERGEN HBG102129 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG102129&db=HOVERGEN HPA HPA008070 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA008070 InParanoid Q16602 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q16602 IntAct Q16602 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q16602* InterPro IPR000832 http://www.ebi.ac.uk/interpro/entry/IPR000832 InterPro IPR001879 http://www.ebi.ac.uk/interpro/entry/IPR001879 InterPro IPR003287 http://www.ebi.ac.uk/interpro/entry/IPR003287 InterPro IPR003289 http://www.ebi.ac.uk/interpro/entry/IPR003289 InterPro IPR017981 http://www.ebi.ac.uk/interpro/entry/IPR017981 InterPro IPR017983 http://www.ebi.ac.uk/interpro/entry/IPR017983 Jabion 10203 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=10203 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04030 http://www.genome.jp/dbget-bin/www_bget?ko04030 KEGG_Gene hsa:10203 http://www.genome.jp/dbget-bin/www_bget?hsa:10203 KEGG_Orthology KO:K04577 http://www.genome.jp/dbget-bin/www_bget?KO:K04577 KEGG_Pathway ko04080 http://www.genome.jp/kegg-bin/show_pathway?ko04080 KEGG_Pathway ko04270 http://www.genome.jp/kegg-bin/show_pathway?ko04270 MIM 114190 http://www.ncbi.nlm.nih.gov/omim/114190 OrthoDB EOG091G027C http://cegg.unige.ch/orthodb/results?searchtext=EOG091G027C PDB 3AQF http://www.ebi.ac.uk/pdbe-srv/view/entry/3AQF PDB 3N7P http://www.ebi.ac.uk/pdbe-srv/view/entry/3N7P PDB 3N7R http://www.ebi.ac.uk/pdbe-srv/view/entry/3N7R PDB 3N7S http://www.ebi.ac.uk/pdbe-srv/view/entry/3N7S PDB 4RWF http://www.ebi.ac.uk/pdbe-srv/view/entry/4RWF PDB 4RWG http://www.ebi.ac.uk/pdbe-srv/view/entry/4RWG PDBsum 3AQF http://www.ebi.ac.uk/pdbsum/3AQF PDBsum 3N7P http://www.ebi.ac.uk/pdbsum/3N7P PDBsum 3N7R http://www.ebi.ac.uk/pdbsum/3N7R PDBsum 3N7S http://www.ebi.ac.uk/pdbsum/3N7S PDBsum 4RWF http://www.ebi.ac.uk/pdbsum/4RWF PDBsum 4RWG http://www.ebi.ac.uk/pdbsum/4RWG PRINTS PR00249 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00249 PRINTS PR01350 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01350 PRINTS PR01351 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01351 PROSITE PS00649 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00649 PROSITE PS00650 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00650 PROSITE PS50227 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50227 PROSITE PS50261 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50261 PSORT swissprot:CALRL_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CALRL_HUMAN PSORT-B swissprot:CALRL_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CALRL_HUMAN PSORT2 swissprot:CALRL_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CALRL_HUMAN Pfam PF00002 http://pfam.xfam.org/family/PF00002 Pfam PF02793 http://pfam.xfam.org/family/PF02793 PharmGKB PA26033 http://www.pharmgkb.org/do/serve?objId=PA26033&objCls=Gene Phobius swissprot:CALRL_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CALRL_HUMAN PhylomeDB Q16602 http://phylomedb.org/?seqid=Q16602 ProteinModelPortal Q16602 http://www.proteinmodelportal.org/query/uniprot/Q16602 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15340161 http://www.ncbi.nlm.nih.gov/pubmed/15340161 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 PubMed 20826335 http://www.ncbi.nlm.nih.gov/pubmed/20826335 PubMed 22102369 http://www.ncbi.nlm.nih.gov/pubmed/22102369 PubMed 7818539 http://www.ncbi.nlm.nih.gov/pubmed/7818539 PubMed 8626685 http://www.ncbi.nlm.nih.gov/pubmed/8626685 Reactome R-HSA-418555 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-418555 Reactome R-HSA-419812 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-419812 RefSeq NP_001258680 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001258680 RefSeq NP_005786 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_005786 SMART SM00008 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00008 SMR Q16602 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q16602 STRING 9606.ENSP00000376177 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000376177&targetmode=cogs TCDB 9.A.14.4.12 http://www.tcdb.org/search/result.php?tc=9.A.14.4.12 UCSC uc002upv http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002upv&org=rat UniGene Hs.470882 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.470882 UniGene Hs.744587 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.744587 UniProtKB CALRL_HUMAN http://www.uniprot.org/uniprot/CALRL_HUMAN UniProtKB-AC Q16602 http://www.uniprot.org/uniprot/Q16602 charge swissprot:CALRL_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CALRL_HUMAN eggNOG ENOG410XRS2 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XRS2 eggNOG KOG4564 http://eggnogapi.embl.de/nog_data/html/tree/KOG4564 epestfind swissprot:CALRL_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CALRL_HUMAN garnier swissprot:CALRL_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CALRL_HUMAN helixturnhelix swissprot:CALRL_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CALRL_HUMAN hmoment swissprot:CALRL_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CALRL_HUMAN iep swissprot:CALRL_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CALRL_HUMAN inforesidue swissprot:CALRL_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CALRL_HUMAN neXtProt NX_Q16602 http://www.nextprot.org/db/entry/NX_Q16602 octanol swissprot:CALRL_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CALRL_HUMAN pepcoil swissprot:CALRL_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CALRL_HUMAN pepdigest swissprot:CALRL_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CALRL_HUMAN pepinfo swissprot:CALRL_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CALRL_HUMAN pepnet swissprot:CALRL_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CALRL_HUMAN pepstats swissprot:CALRL_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CALRL_HUMAN pepwheel swissprot:CALRL_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CALRL_HUMAN pepwindow swissprot:CALRL_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CALRL_HUMAN sigcleave swissprot:CALRL_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CALRL_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS ABCA6_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q8N139-1; Sequence=Displayed; Name=2; Synonyms=ABCA6delta-139; IsoId=Q8N139-2; Sequence=VSP_020697, VSP_020698; Name=3; IsoId=Q8N139-3; Sequence=VSP_020695, VSP_020696; Note=No experimental confirmation available.; # CCDS CCDS11683 -. [Q8N139-1] # ChiTaRS ABCA6 human # DEVELOPMENTAL STAGE Expressed in fetal kidney, lung and liver. {ECO 0000269|Ref.2}. # Ensembl ENST00000284425 ENSP00000284425; ENSG00000154262. [Q8N139-1] # Ensembl ENST00000590645 ENSP00000466862; ENSG00000154262. [Q8N139-3] # FUNCTION ABCA6_HUMAN Probable transporter which may play a role in macrophage lipid homeostasis. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0043231 intracellular membrane-bounded organelle; IBA:GO_Central. # GO_function GO:0005524 ATP binding; IEA:UniProtKB-KW. # GO_function GO:0042626 ATPase activity, coupled to transmembrane movement of substances; IBA:GO_Central. # GO_process GO:0006869 lipid transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0043226 organelle # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # Gene3D 3.40.50.300 -; 2. # Genevisible Q8N139 HS # HGNC HGNC:36 ABCA6 # INDUCTION Up-regulated during monocyte differentiation into macrophages. Down-regulated by cholesterol loading of macrophages. {ECO:0000269|PubMed 10639163}. # InterPro IPR003439 ABC_transporter-like # InterPro IPR003593 AAA+_ATPase # InterPro IPR026082 ABC_A # InterPro IPR027417 P-loop_NTPase # InterPro IPR030368 ABCA6 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02000 Transporters # KEGG_Pathway ko02010 ABC transporters # MIM 612504 gene # Organism ABCA6_HUMAN Homo sapiens (Human) # PANTHER PTHR19229 PTHR19229 # PANTHER PTHR19229:SF13 PTHR19229:SF13 # PROSITE PS50893 ABC_TRANSPORTER_2; 2 # Pfam PF00005 ABC_tran; 2 # Proteomes UP000005640 Chromosome 17 # Reactome R-HSA-1369062 ABC transporters in lipid homeostasis # RecName ABCA6_HUMAN ATP-binding cassette sub-family A member 6 # RefSeq NP_525023 NM_080284.2. [Q8N139-1] # RefSeq XP_016879893 XM_017024404.1. [Q8N139-1] # RefSeq XP_016879894 XM_017024405.1. [Q8N139-1] # SEQUENCE CAUTION Sequence=AAM77557.1; Type=Frameshift; Positions=998, 1000; Evidence={ECO:0000305}; Sequence=AAM77558.1; Type=Frameshift; Positions=998, 1000; Evidence={ECO 0000305}; Sequence=BAC04994.1; Type=Erroneous initiation; Evidence={ECO:0000305}; # SIMILARITY Belongs to the ABC transporter superfamily. ABCA family. {ECO 0000305}. # SIMILARITY Contains 2 ABC transporter domains. {ECO:0000255|PROSITE-ProRule PRU00434}. # SMART SM00382 AAA; 2 # SUBCELLULAR LOCATION ABCA6_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # SUPFAM SSF52540 SSF52540; 2 # TCDB 3.A.1.211.15 the atp-binding cassette (abc) superfamily # TISSUE SPECIFICITY Widely expressed with higher expression in liver. {ECO:0000269|PubMed 11478798, ECO:0000269|Ref.2}. # TopDownProteomics Q8N139-3 -. [Q8N139-3] # UCSC uc002jhw human. [Q8N139-1] # WEB RESOURCE ABCA6_HUMAN Name=ABCMdb; Note=Database for mutations in ABC proteins; URL="http //abcmutations.hegelab.org/proteinDetails?uniprot_id=Q8N139"; # eggNOG COG1131 LUCA # eggNOG KOG0059 Eukaryota BLAST swissprot:ABCA6_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ABCA6_HUMAN COXPRESdb 23460 http://coxpresdb.jp/data/gene/23460.shtml CleanEx HS_ABCA6 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ABCA6 DOI 10.1006/bbrc.2001.5326 http://dx.doi.org/10.1006/bbrc.2001.5326 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/pr8008012 http://dx.doi.org/10.1021/pr8008012 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.97.2.817 http://dx.doi.org/10.1073/pnas.97.2.817 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AF373290 http://www.ebi.ac.uk/ena/data/view/AF373290 EMBL AF373291 http://www.ebi.ac.uk/ena/data/view/AF373291 EMBL AF373292 http://www.ebi.ac.uk/ena/data/view/AF373292 EMBL AF373293 http://www.ebi.ac.uk/ena/data/view/AF373293 EMBL AF373294 http://www.ebi.ac.uk/ena/data/view/AF373294 EMBL AF373295 http://www.ebi.ac.uk/ena/data/view/AF373295 EMBL AF373296 http://www.ebi.ac.uk/ena/data/view/AF373296 EMBL AF373297 http://www.ebi.ac.uk/ena/data/view/AF373297 EMBL AF373298 http://www.ebi.ac.uk/ena/data/view/AF373298 EMBL AF373299 http://www.ebi.ac.uk/ena/data/view/AF373299 EMBL AF373300 http://www.ebi.ac.uk/ena/data/view/AF373300 EMBL AF373301 http://www.ebi.ac.uk/ena/data/view/AF373301 EMBL AF373302 http://www.ebi.ac.uk/ena/data/view/AF373302 EMBL AF373303 http://www.ebi.ac.uk/ena/data/view/AF373303 EMBL AF373304 http://www.ebi.ac.uk/ena/data/view/AF373304 EMBL AF373305 http://www.ebi.ac.uk/ena/data/view/AF373305 EMBL AF373306 http://www.ebi.ac.uk/ena/data/view/AF373306 EMBL AF373307 http://www.ebi.ac.uk/ena/data/view/AF373307 EMBL AF373308 http://www.ebi.ac.uk/ena/data/view/AF373308 EMBL AF373309 http://www.ebi.ac.uk/ena/data/view/AF373309 EMBL AF373310 http://www.ebi.ac.uk/ena/data/view/AF373310 EMBL AF373311 http://www.ebi.ac.uk/ena/data/view/AF373311 EMBL AF373312 http://www.ebi.ac.uk/ena/data/view/AF373312 EMBL AF373313 http://www.ebi.ac.uk/ena/data/view/AF373313 EMBL AF373314 http://www.ebi.ac.uk/ena/data/view/AF373314 EMBL AF373315 http://www.ebi.ac.uk/ena/data/view/AF373315 EMBL AF373316 http://www.ebi.ac.uk/ena/data/view/AF373316 EMBL AF373317 http://www.ebi.ac.uk/ena/data/view/AF373317 EMBL AF373318 http://www.ebi.ac.uk/ena/data/view/AF373318 EMBL AF373319 http://www.ebi.ac.uk/ena/data/view/AF373319 EMBL AF373320 http://www.ebi.ac.uk/ena/data/view/AF373320 EMBL AF373321 http://www.ebi.ac.uk/ena/data/view/AF373321 EMBL AF373322 http://www.ebi.ac.uk/ena/data/view/AF373322 EMBL AF373323 http://www.ebi.ac.uk/ena/data/view/AF373323 EMBL AF373324 http://www.ebi.ac.uk/ena/data/view/AF373324 EMBL AF373325 http://www.ebi.ac.uk/ena/data/view/AF373325 EMBL AF373326 http://www.ebi.ac.uk/ena/data/view/AF373326 EMBL AF373327 http://www.ebi.ac.uk/ena/data/view/AF373327 EMBL AF373328 http://www.ebi.ac.uk/ena/data/view/AF373328 EMBL AK097296 http://www.ebi.ac.uk/ena/data/view/AK097296 EMBL AY028898 http://www.ebi.ac.uk/ena/data/view/AY028898 EMBL BC070125 http://www.ebi.ac.uk/ena/data/view/BC070125 Ensembl ENST00000284425 http://www.ensembl.org/id/ENST00000284425 Ensembl ENST00000590645 http://www.ensembl.org/id/ENST00000590645 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0043231 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043231 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0042626 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042626 GO_process GO:0006869 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006869 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 Gene3D 3.40.50.300 http://www.cathdb.info/version/latest/superfamily/3.40.50.300 GeneCards ABCA6 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ABCA6 GeneID 23460 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=23460 GeneTree ENSGT00760000118965 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118965 H-InvDB HIX0014121 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0014121 HGNC HGNC:36 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:36 HOGENOM HOG000231057 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231057&db=HOGENOM6 HOVERGEN HBG079884 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG079884&db=HOVERGEN InParanoid Q8N139 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8N139 IntAct Q8N139 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q8N139* InterPro IPR003439 http://www.ebi.ac.uk/interpro/entry/IPR003439 InterPro IPR003593 http://www.ebi.ac.uk/interpro/entry/IPR003593 InterPro IPR026082 http://www.ebi.ac.uk/interpro/entry/IPR026082 InterPro IPR027417 http://www.ebi.ac.uk/interpro/entry/IPR027417 InterPro IPR030368 http://www.ebi.ac.uk/interpro/entry/IPR030368 Jabion 23460 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=23460 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Gene hsa:23460 http://www.genome.jp/dbget-bin/www_bget?hsa:23460 KEGG_Orthology KO:K05649 http://www.genome.jp/dbget-bin/www_bget?KO:K05649 KEGG_Pathway ko02010 http://www.genome.jp/kegg-bin/show_pathway?ko02010 MIM 612504 http://www.ncbi.nlm.nih.gov/omim/612504 OMA CFQHQRT http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=CFQHQRT OrthoDB EOG091G00AG http://cegg.unige.ch/orthodb/results?searchtext=EOG091G00AG PANTHER PTHR19229 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR19229 PANTHER PTHR19229:SF13 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR19229:SF13 PROSITE PS50893 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50893 PSORT swissprot:ABCA6_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ABCA6_HUMAN PSORT-B swissprot:ABCA6_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ABCA6_HUMAN PSORT2 swissprot:ABCA6_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ABCA6_HUMAN Pfam PF00005 http://pfam.xfam.org/family/PF00005 PharmGKB PA24381 http://www.pharmgkb.org/do/serve?objId=PA24381&objCls=Gene Phobius swissprot:ABCA6_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ABCA6_HUMAN PhylomeDB Q8N139 http://phylomedb.org/?seqid=Q8N139 ProteinModelPortal Q8N139 http://www.proteinmodelportal.org/query/uniprot/Q8N139 PubMed 10639163 http://www.ncbi.nlm.nih.gov/pubmed/10639163 PubMed 11478798 http://www.ncbi.nlm.nih.gov/pubmed/11478798 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 19159218 http://www.ncbi.nlm.nih.gov/pubmed/19159218 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 Reactome R-HSA-1369062 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1369062 RefSeq NP_525023 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_525023 RefSeq XP_016879893 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016879893 RefSeq XP_016879894 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016879894 SMART SM00382 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00382 SMR Q8N139 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q8N139 STRING 9606.ENSP00000284425 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000284425&targetmode=cogs SUPFAM SSF52540 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52540 TCDB 3.A.1.211.15 http://www.tcdb.org/search/result.php?tc=3.A.1.211.15 UCSC uc002jhw http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002jhw&org=rat UniGene Hs.709514 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.709514 UniProtKB ABCA6_HUMAN http://www.uniprot.org/uniprot/ABCA6_HUMAN UniProtKB-AC Q8N139 http://www.uniprot.org/uniprot/Q8N139 charge swissprot:ABCA6_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ABCA6_HUMAN eggNOG COG1131 http://eggnogapi.embl.de/nog_data/html/tree/COG1131 eggNOG KOG0059 http://eggnogapi.embl.de/nog_data/html/tree/KOG0059 epestfind swissprot:ABCA6_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ABCA6_HUMAN garnier swissprot:ABCA6_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ABCA6_HUMAN helixturnhelix swissprot:ABCA6_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ABCA6_HUMAN hmoment swissprot:ABCA6_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ABCA6_HUMAN iep swissprot:ABCA6_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ABCA6_HUMAN inforesidue swissprot:ABCA6_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ABCA6_HUMAN neXtProt NX_Q8N139 http://www.nextprot.org/db/entry/NX_Q8N139 octanol swissprot:ABCA6_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ABCA6_HUMAN pepcoil swissprot:ABCA6_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ABCA6_HUMAN pepdigest swissprot:ABCA6_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ABCA6_HUMAN pepinfo swissprot:ABCA6_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ABCA6_HUMAN pepnet swissprot:ABCA6_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ABCA6_HUMAN pepstats swissprot:ABCA6_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ABCA6_HUMAN pepwheel swissprot:ABCA6_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ABCA6_HUMAN pepwindow swissprot:ABCA6_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ABCA6_HUMAN sigcleave swissprot:ABCA6_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ABCA6_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS CAHM3_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q86XJ0-1; Sequence=Displayed; Name=2; IsoId=Q86XJ0-2; Sequence=VSP_014318; Note=No experimental confirmation available.; # AltName CAHM3_HUMAN Protein FAM26A # CCDS CCDS44476 -. [Q86XJ0-2] # Ensembl ENST00000369783 ENSP00000358798; ENSG00000183128. [Q86XJ0-2] # FUNCTION CAHM3_HUMAN Pore-forming subunit of a voltage-gated ion channel. {ECO 0000250}. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_function GO:0005261 cation channel activity; IBA:GO_Central. # GO_process GO:0034220 ion transmembrane transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0055085 transmembrane transport # Genevisible Q86XJ0 HS # HGNC HGNC:23458 CALHM3 # InterPro IPR029569 FAM26 # InterPro IPR029571 CALHM3 # Organism CAHM3_HUMAN Homo sapiens (Human) # PANTHER PTHR32261 PTHR32261; 2 # PANTHER PTHR32261:SF7 PTHR32261:SF7; 2 # Pfam PF14798 Ca_hom_mod # Proteomes UP000005640 Chromosome 10 # RecName CAHM3_HUMAN Calcium homeostasis modulator protein 3 # RefSeq NP_001123214 NM_001129742.1. [Q86XJ0-2] # SIMILARITY Belongs to the FAM26 family. {ECO 0000305}. # SUBCELLULAR LOCATION CAHM3_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # TCDB 1.A.84.1 the calcium homeostasis modulator ca(2+) channel (calhm-c) family # TISSUE SPECIFICITY Specifically expressed in circumvallate taste bud cells. {ECO:0000269|PubMed 19997627}. # UCSC uc001kxg human. [Q86XJ0-1] # eggNOG ENOG410IJU4 Eukaryota # eggNOG ENOG4110PIK LUCA BLAST swissprot:CAHM3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CAHM3_HUMAN BioCyc ZFISH:G66-33738-MONOMER http://biocyc.org/getid?id=ZFISH:G66-33738-MONOMER COXPRESdb 119395 http://coxpresdb.jp/data/gene/119395.shtml CleanEx HS_CALHM3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CALHM3 DOI 10.1016/j.cell.2008.05.048 http://dx.doi.org/10.1016/j.cell.2008.05.048 DOI 10.1038/nature02462 http://dx.doi.org/10.1038/nature02462 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1371/journal.pone.0007682 http://dx.doi.org/10.1371/journal.pone.0007682 EMBL AL139339 http://www.ebi.ac.uk/ena/data/view/AL139339 EMBL BC039499 http://www.ebi.ac.uk/ena/data/view/BC039499 EMBL BC043367 http://www.ebi.ac.uk/ena/data/view/BC043367 Ensembl ENST00000369783 http://www.ensembl.org/id/ENST00000369783 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0005261 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005261 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards CALHM3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CALHM3 GeneID 119395 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=119395 GeneTree ENSGT00530000062796 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000062796 H-InvDB HIX0025951 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0025951 HGNC HGNC:23458 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:23458 HOGENOM HOG000111295 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000111295&db=HOGENOM6 HOVERGEN HBG096020 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG096020&db=HOVERGEN HPA HPA018205 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA018205 InParanoid Q86XJ0 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q86XJ0 InterPro IPR029569 http://www.ebi.ac.uk/interpro/entry/IPR029569 InterPro IPR029571 http://www.ebi.ac.uk/interpro/entry/IPR029571 Jabion 119395 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=119395 KEGG_Gene hsa:119395 http://www.genome.jp/dbget-bin/www_bget?hsa:119395 OMA SGKAHLR http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=SGKAHLR OrthoDB EOG091G09L8 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G09L8 PANTHER PTHR32261 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR32261 PANTHER PTHR32261:SF7 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR32261:SF7 PSORT swissprot:CAHM3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CAHM3_HUMAN PSORT-B swissprot:CAHM3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CAHM3_HUMAN PSORT2 swissprot:CAHM3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CAHM3_HUMAN Pfam PF14798 http://pfam.xfam.org/family/PF14798 PharmGKB PA162380976 http://www.pharmgkb.org/do/serve?objId=PA162380976&objCls=Gene Phobius swissprot:CAHM3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CAHM3_HUMAN PhylomeDB Q86XJ0 http://phylomedb.org/?seqid=Q86XJ0 ProteinModelPortal Q86XJ0 http://www.proteinmodelportal.org/query/uniprot/Q86XJ0 PubMed 15164054 http://www.ncbi.nlm.nih.gov/pubmed/15164054 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 18585350 http://www.ncbi.nlm.nih.gov/pubmed/18585350 PubMed 19997627 http://www.ncbi.nlm.nih.gov/pubmed/19997627 RefSeq NP_001123214 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001123214 SMR Q86XJ0 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q86XJ0 STRING 9606.ENSP00000358798 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000358798&targetmode=cogs TCDB 1.A.84.1 http://www.tcdb.org/search/result.php?tc=1.A.84.1 UCSC uc001kxg http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001kxg&org=rat UniGene Hs.364624 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.364624 UniProtKB CAHM3_HUMAN http://www.uniprot.org/uniprot/CAHM3_HUMAN UniProtKB-AC Q86XJ0 http://www.uniprot.org/uniprot/Q86XJ0 charge swissprot:CAHM3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CAHM3_HUMAN eggNOG ENOG410IJU4 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IJU4 eggNOG ENOG4110PIK http://eggnogapi.embl.de/nog_data/html/tree/ENOG4110PIK epestfind swissprot:CAHM3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CAHM3_HUMAN garnier swissprot:CAHM3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CAHM3_HUMAN helixturnhelix swissprot:CAHM3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CAHM3_HUMAN hmoment swissprot:CAHM3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CAHM3_HUMAN iep swissprot:CAHM3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CAHM3_HUMAN inforesidue swissprot:CAHM3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CAHM3_HUMAN neXtProt NX_Q86XJ0 http://www.nextprot.org/db/entry/NX_Q86XJ0 octanol swissprot:CAHM3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CAHM3_HUMAN pepcoil swissprot:CAHM3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CAHM3_HUMAN pepdigest swissprot:CAHM3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CAHM3_HUMAN pepinfo swissprot:CAHM3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CAHM3_HUMAN pepnet swissprot:CAHM3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CAHM3_HUMAN pepstats swissprot:CAHM3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CAHM3_HUMAN pepwheel swissprot:CAHM3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CAHM3_HUMAN pepwindow swissprot:CAHM3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CAHM3_HUMAN sigcleave swissprot:CAHM3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CAHM3_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS VMAT2_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q05940-1; Sequence=Displayed; Name=2; IsoId=Q05940-2; Sequence=VSP_057151, VSP_057152; Note=No experimental confirmation available.; # AltName VMAT2_HUMAN Monoamine transporter # AltName VMAT2_HUMAN Solute carrier family 18 member 2 # AltName VMAT2_HUMAN Vesicular amine transporter 2 # CCDS CCDS7599 -. [Q05940-1] # CDD cd06174 MFS # DrugBank DB00182 Amphetamine # DrugBank DB00206 Reserpine # DrugBank DB00368 Norepinephrine # DrugBank DB00865 Benzphetamine # DrugBank DB01089 Deserpidine # DrugBank DB01363 Ephedra # DrugBank DB01364 Ephedrine # DrugBank DB01576 Dextroamphetamine # DrugBank DB01577 Methamphetamine # DrugBank DB04844 Tetrabenazine # DrugBank DB06706 Isometheptene # DrugBank DB06714 Propylhexedrine # Ensembl ENST00000298472 ENSP00000298472; ENSG00000165646. [Q05940-1] # FUNCTION VMAT2_HUMAN Involved in the ATP-dependent vesicular transport of biogenic amine neurotransmitters. Pumps cytosolic monoamines including dopamine, norepinephrine, serotonin, and histamine into synaptic vesicles. Requisite for vesicular amine storage prior to secretion via exocytosis. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0008021 synaptic vesicle; TAS:ParkinsonsUK-UCL. # GO_component GO:0016020 membrane; TAS:ProtInc. # GO_component GO:0030672 synaptic vesicle membrane; IBA:GO_Central. # GO_component GO:0043195 terminal bouton; IBA:GO_Central. # GO_component GO:0070083 clathrin-sculpted monoamine transport vesicle membrane; TAS:Reactome. # GO_function GO:0008504 monoamine transmembrane transporter activity; TAS:Reactome. # GO_function GO:0015222 serotonin transmembrane transporter activity; IBA:GO_Central. # GO_process GO:0001975 response to amphetamine; IEA:Ensembl. # GO_process GO:0007268 chemical synaptic transmission; TAS:ParkinsonsUK-UCL. # GO_process GO:0007269 neurotransmitter secretion; TAS:Reactome. # GO_process GO:0007626 locomotory behavior; IEA:Ensembl. # GO_process GO:0009636 response to toxic substance; IEA:Ensembl. # GO_process GO:0009791 post-embryonic development; IEA:Ensembl. # GO_process GO:0015842 aminergic neurotransmitter loading into synaptic vesicle; IBA:GO_Central. # GO_process GO:0015844 monoamine transport; TAS:ProtInc. # GO_process GO:0015872 dopamine transport; TAS:ParkinsonsUK-UCL. # GO_process GO:0042137 sequestering of neurotransmitter; NAS:ParkinsonsUK-UCL. # GO_process GO:0098700 neurotransmitter loading into synaptic vesicle; TAS:ParkinsonsUK-UCL. # GO_process GO:1903427 negative regulation of reactive oxygen species biosynthetic process; NAS:ParkinsonsUK-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0031410 cytoplasmic vesicle # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # Genevisible Q05940 HS # HGNC HGNC:10935 SLC18A2 # InterPro IPR011701 MFS # InterPro IPR020846 MFS_dom # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02000 Transporters # KEGG_Brite ko02001 Solute carrier family # KEGG_Pathway ko04721 Synaptic vesicle cycle # KEGG_Pathway ko04726 Serotonergic synapse # KEGG_Pathway ko04728 Dopaminergic synapse # KEGG_Pathway ko05012 Parkinson's disease # KEGG_Pathway ko05030 Cocaine addiction # KEGG_Pathway ko05031 Amphetamine addiction # KEGG_Pathway ko05034 Alcoholism # MIM 193001 gene # Organism VMAT2_HUMAN Homo sapiens (Human) # Orphanet 352649 Brain dopamine-serotonin vesicular transport disease # PIR A49368 A49368 # PIR S29810 S29810 # PROSITE PS50850 MFS # Pfam PF07690 MFS_1 # Proteomes UP000005640 Chromosome 10 # Reactome R-HSA-181429 Serotonin Neurotransmitter Release Cycle # Reactome R-HSA-181430 Norepinephrine Neurotransmitter Release Cycle # Reactome R-HSA-212676 Dopamine Neurotransmitter Release Cycle # Reactome R-HSA-442660 Na+/Cl- dependent neurotransmitter transporters # RecName VMAT2_HUMAN Synaptic vesicular amine transporter # RefSeq NP_003045 NM_003054.4. [Q05940-1] # SEQUENCE CAUTION Sequence=BAB19009.1; Type=Erroneous gene model prediction; Evidence={ECO 0000305}; # SIMILARITY Belongs to the major facilitator superfamily. Vesicular transporter family. {ECO 0000305}. # SUBCELLULAR LOCATION VMAT2_HUMAN Cytoplasmic vesicle membrane; Multi-pass membrane protein. # SUBUNIT Interacts with SLC6A3. {ECO 0000250}. # SUPFAM SSF103473 SSF103473; 2 # TCDB 2.A.1.2.29 the major facilitator superfamily (mfs) # UCSC uc001ldd human. [Q05940-1] # WEB RESOURCE VMAT2_HUMAN Name=Wikipedia; Note=Vesicular monoamine transporter entry; URL="https //en.wikipedia.org/wiki/Vesicular_monoamine_transporter"; # eggNOG ENOG410XW69 LUCA # eggNOG KOG3764 Eukaryota BLAST swissprot:VMAT2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:VMAT2_HUMAN BioCyc ZFISH:ENSG00000165646-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000165646-MONOMER COXPRESdb 6571 http://coxpresdb.jp/data/gene/6571.shtml CleanEx HS_SLC18A2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC18A2 DOI 10.1007/BF01244941 http://dx.doi.org/10.1007/BF01244941 DOI 10.1016/0014-5793(93)80539-7 http://dx.doi.org/10.1016/0014-5793(93)80539-7 DOI 10.1016/S0888-7543(05)80383-0 http://dx.doi.org/10.1016/S0888-7543(05)80383-0 DOI 10.1021/bi015779j http://dx.doi.org/10.1021/bi015779j DOI 10.1021/pr0704130 http://dx.doi.org/10.1021/pr0704130 DOI 10.1038/nature02462 http://dx.doi.org/10.1038/nature02462 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1038/sj.mp.4000895 http://dx.doi.org/10.1038/sj.mp.4000895 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1471-4159.1993.tb07476.x http://dx.doi.org/10.1111/j.1471-4159.1993.tb07476.x DrugBank DB00182 http://www.drugbank.ca/drugs/DB00182 DrugBank DB00206 http://www.drugbank.ca/drugs/DB00206 DrugBank DB00368 http://www.drugbank.ca/drugs/DB00368 DrugBank DB00865 http://www.drugbank.ca/drugs/DB00865 DrugBank DB01089 http://www.drugbank.ca/drugs/DB01089 DrugBank DB01363 http://www.drugbank.ca/drugs/DB01363 DrugBank DB01364 http://www.drugbank.ca/drugs/DB01364 DrugBank DB01576 http://www.drugbank.ca/drugs/DB01576 DrugBank DB01577 http://www.drugbank.ca/drugs/DB01577 DrugBank DB04844 http://www.drugbank.ca/drugs/DB04844 DrugBank DB06706 http://www.drugbank.ca/drugs/DB06706 DrugBank DB06714 http://www.drugbank.ca/drugs/DB06714 EMBL AB044401 http://www.ebi.ac.uk/ena/data/view/AB044401 EMBL AK314997 http://www.ebi.ac.uk/ena/data/view/AK314997 EMBL AL391988 http://www.ebi.ac.uk/ena/data/view/AL391988 EMBL AL391988 http://www.ebi.ac.uk/ena/data/view/AL391988 EMBL AL731557 http://www.ebi.ac.uk/ena/data/view/AL731557 EMBL AL731557 http://www.ebi.ac.uk/ena/data/view/AL731557 EMBL BC030593 http://www.ebi.ac.uk/ena/data/view/BC030593 EMBL BC108927 http://www.ebi.ac.uk/ena/data/view/BC108927 EMBL BC108928 http://www.ebi.ac.uk/ena/data/view/BC108928 EMBL CH471066 http://www.ebi.ac.uk/ena/data/view/CH471066 EMBL CH471066 http://www.ebi.ac.uk/ena/data/view/CH471066 EMBL L09118 http://www.ebi.ac.uk/ena/data/view/L09118 EMBL L14269 http://www.ebi.ac.uk/ena/data/view/L14269 EMBL L23205 http://www.ebi.ac.uk/ena/data/view/L23205 EMBL X71354 http://www.ebi.ac.uk/ena/data/view/X71354 Ensembl ENST00000298472 http://www.ensembl.org/id/ENST00000298472 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0008021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008021 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0030672 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030672 GO_component GO:0043195 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043195 GO_component GO:0070083 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070083 GO_function GO:0008504 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008504 GO_function GO:0015222 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015222 GO_process GO:0001975 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001975 GO_process GO:0007268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007268 GO_process GO:0007269 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007269 GO_process GO:0007626 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007626 GO_process GO:0009636 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009636 GO_process GO:0009791 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009791 GO_process GO:0015842 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015842 GO_process GO:0015844 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015844 GO_process GO:0015872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015872 GO_process GO:0042137 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042137 GO_process GO:0098700 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0098700 GO_process GO:1903427 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903427 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0031410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GeneCards SLC18A2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC18A2 GeneID 6571 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6571 GeneTree ENSGT00390000003851 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000003851 H-InvDB HIX0035636 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0035636 HGNC HGNC:10935 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10935 HOGENOM HOG000018545 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000018545&db=HOGENOM6 HOVERGEN HBG055082 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG055082&db=HOVERGEN HPA HPA016856 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA016856 InParanoid Q05940 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q05940 InterPro IPR011701 http://www.ebi.ac.uk/interpro/entry/IPR011701 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 6571 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6571 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:6571 http://www.genome.jp/dbget-bin/www_bget?hsa:6571 KEGG_Orthology KO:K08155 http://www.genome.jp/dbget-bin/www_bget?KO:K08155 KEGG_Pathway ko04721 http://www.genome.jp/kegg-bin/show_pathway?ko04721 KEGG_Pathway ko04726 http://www.genome.jp/kegg-bin/show_pathway?ko04726 KEGG_Pathway ko04728 http://www.genome.jp/kegg-bin/show_pathway?ko04728 KEGG_Pathway ko05012 http://www.genome.jp/kegg-bin/show_pathway?ko05012 KEGG_Pathway ko05030 http://www.genome.jp/kegg-bin/show_pathway?ko05030 KEGG_Pathway ko05031 http://www.genome.jp/kegg-bin/show_pathway?ko05031 KEGG_Pathway ko05034 http://www.genome.jp/kegg-bin/show_pathway?ko05034 MIM 193001 http://www.ncbi.nlm.nih.gov/omim/193001 OMA QKAETEP http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=QKAETEP Orphanet 352649 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=352649 OrthoDB EOG091G0534 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0534 PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PSORT swissprot:VMAT2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:VMAT2_HUMAN PSORT-B swissprot:VMAT2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:VMAT2_HUMAN PSORT2 swissprot:VMAT2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:VMAT2_HUMAN Pfam PF07690 http://pfam.xfam.org/family/PF07690 PharmGKB PA325 http://www.pharmgkb.org/do/serve?objId=PA325&objCls=Gene Phobius swissprot:VMAT2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:VMAT2_HUMAN PhylomeDB Q05940 http://phylomedb.org/?seqid=Q05940 ProteinModelPortal Q05940 http://www.proteinmodelportal.org/query/uniprot/Q05940 PubMed 11443533 http://www.ncbi.nlm.nih.gov/pubmed/11443533 PubMed 12009896 http://www.ncbi.nlm.nih.gov/pubmed/12009896 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15164054 http://www.ncbi.nlm.nih.gov/pubmed/15164054 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 18088087 http://www.ncbi.nlm.nih.gov/pubmed/18088087 PubMed 7905859 http://www.ncbi.nlm.nih.gov/pubmed/7905859 PubMed 8095030 http://www.ncbi.nlm.nih.gov/pubmed/8095030 PubMed 8245983 http://www.ncbi.nlm.nih.gov/pubmed/8245983 PubMed 8373557 http://www.ncbi.nlm.nih.gov/pubmed/8373557 Reactome R-HSA-181429 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-181429 Reactome R-HSA-181430 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-181430 Reactome R-HSA-212676 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-212676 Reactome R-HSA-442660 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-442660 RefSeq NP_003045 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_003045 STRING 9606.ENSP00000298472 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000298472&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.1.2.29 http://www.tcdb.org/search/result.php?tc=2.A.1.2.29 UCSC uc001ldd http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001ldd&org=rat UniGene Hs.596992 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.596992 UniProtKB VMAT2_HUMAN http://www.uniprot.org/uniprot/VMAT2_HUMAN UniProtKB-AC Q05940 http://www.uniprot.org/uniprot/Q05940 charge swissprot:VMAT2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:VMAT2_HUMAN eggNOG ENOG410XW69 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XW69 eggNOG KOG3764 http://eggnogapi.embl.de/nog_data/html/tree/KOG3764 epestfind swissprot:VMAT2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:VMAT2_HUMAN garnier swissprot:VMAT2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:VMAT2_HUMAN helixturnhelix swissprot:VMAT2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:VMAT2_HUMAN hmoment swissprot:VMAT2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:VMAT2_HUMAN iep swissprot:VMAT2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:VMAT2_HUMAN inforesidue swissprot:VMAT2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:VMAT2_HUMAN neXtProt NX_Q05940 http://www.nextprot.org/db/entry/NX_Q05940 octanol swissprot:VMAT2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:VMAT2_HUMAN pepcoil swissprot:VMAT2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:VMAT2_HUMAN pepdigest swissprot:VMAT2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:VMAT2_HUMAN pepinfo swissprot:VMAT2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:VMAT2_HUMAN pepnet swissprot:VMAT2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:VMAT2_HUMAN pepstats swissprot:VMAT2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:VMAT2_HUMAN pepwheel swissprot:VMAT2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:VMAT2_HUMAN pepwindow swissprot:VMAT2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:VMAT2_HUMAN sigcleave swissprot:VMAT2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:VMAT2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS NIPA4_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q0D2K0-1; Sequence=Displayed; Name=2; IsoId=Q0D2K0-2; Sequence=VSP_036122; # AltName NIPA4_HUMAN Ichthyin # AltName NIPA4_HUMAN NIPA-like protein 4 # AltName NIPA4_HUMAN Non-imprinted in Prader-Willi/Angelman syndrome region protein 4 # CCDS CCDS47328 -. [Q0D2K0-1] # CCDS CCDS54944 -. [Q0D2K0-2] # DISEASE NIPA4_HUMAN Ichthyosis, congenital, autosomal recessive 6 (ARCI6) [MIM 612281] A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. {ECO 0000269|PubMed 15317751, ECO 0000269|PubMed 17557927, ECO 0000269|PubMed 26456858}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000311946 ENSP00000311687; ENSG00000172548. [Q0D2K0-1] # Ensembl ENST00000435489 ENSP00000406456; ENSG00000172548. [Q0D2K0-2] # ExpressionAtlas Q0D2K0 baseline and differential # FUNCTION NIPA4_HUMAN Acts as a Mg(2+) transporter. Can also transport other divalent cations such as Ba(2+), Mn(2+), Sr(2+) and Co(2+) but to a much less extent than Mg(2+) (By similarity). May be a receptor for ligands (trioxilins A3 and B3) from the hepoxilin pathway. {ECO 0000250, ECO 0000269|PubMed 15317751}. # GO_component GO:0005654 nucleoplasm; IDA:HPA. # GO_component GO:0005737 cytoplasm; IDA:HPA. # GO_component GO:0016020 membrane; IBA:GO_Central. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0015095 magnesium ion transmembrane transporter activity; IEA:InterPro. # GO_process GO:0015693 magnesium ion transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005654 nucleoplasm # GOslim_component GO:0005737 cytoplasm # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # Genevisible Q0D2K0 HS # HGNC HGNC:28018 NIPAL4 # IntAct Q0D2K0 2 # InterPro IPR008521 Mg_trans_NIPA # KEGG_Disease H00734 [Congenital disorder; Skin and connective tissue disease] Lamellar ichthyosis (LI) and Non-bullous congenital ichthyosiform erythroderma (NBCIE) # MIM 609383 gene # MIM 612281 phenotype # Organism NIPA4_HUMAN Homo sapiens (Human) # Orphanet 313 Lamellar ichthyosis # Orphanet 79394 Congenital non-bullous ichthyosiform erythroderma # PANTHER PTHR12570 PTHR12570 # Pfam PF05653 Mg_trans_NIPA # Proteomes UP000005640 Chromosome 5 # Reactome R-HSA-5223345 Miscellaneous transport and binding events # RecName NIPA4_HUMAN Magnesium transporter NIPA4 # RefSeq NP_001092757 NM_001099287.1. [Q0D2K0-1] # RefSeq NP_001165763 NM_001172292.1. [Q0D2K0-2] # SEQUENCE CAUTION Sequence=ABW69630.1; Type=Miscellaneous discrepancy; Note=Protein truncation is due to an exon 5 splice site mutation which is found in a ARCII patient.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the NIPA family. {ECO 0000305}. # SUBCELLULAR LOCATION NIPA4_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # TCDB 2.A.7.25 the drug/metabolite transporter (dmt) superfamily # TISSUE SPECIFICITY NIPA4_HUMAN Highly expressed in brain, lung, stomach, keratinocytes and leukocytes, and in all other tissues tested except liver, thyroid and fetal brain. {ECO 0000269|PubMed 15317751, ECO 0000269|PubMed 17557927}. # UCSC uc003lwx human. [Q0D2K0-1] # eggNOG ENOG410XNR8 LUCA # eggNOG KOG2922 Eukaryota BLAST swissprot:NIPA4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:NIPA4_HUMAN COXPRESdb 348938 http://coxpresdb.jp/data/gene/348938.shtml DOI 10.1038/nature02919 http://dx.doi.org/10.1038/nature02919 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1093/hmg/ddh263 http://dx.doi.org/10.1093/hmg/ddh263 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/ced.12740 http://dx.doi.org/10.1111/ced.12740 DOI 10.1136/jmg.2007.050542 http://dx.doi.org/10.1136/jmg.2007.050542 EMBL AC008676 http://www.ebi.ac.uk/ena/data/view/AC008676 EMBL AK296972 http://www.ebi.ac.uk/ena/data/view/AK296972 EMBL BC105708 http://www.ebi.ac.uk/ena/data/view/BC105708 EMBL BC105709 http://www.ebi.ac.uk/ena/data/view/BC105709 EMBL BC105710 http://www.ebi.ac.uk/ena/data/view/BC105710 EMBL EF599763 http://www.ebi.ac.uk/ena/data/view/EF599763 EMBL EF599764 http://www.ebi.ac.uk/ena/data/view/EF599764 EMBL EF599765 http://www.ebi.ac.uk/ena/data/view/EF599765 EMBL EF599766 http://www.ebi.ac.uk/ena/data/view/EF599766 Ensembl ENST00000311946 http://www.ensembl.org/id/ENST00000311946 Ensembl ENST00000435489 http://www.ensembl.org/id/ENST00000435489 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0015095 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015095 GO_process GO:0015693 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015693 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GeneCards NIPAL4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=NIPAL4 GeneID 348938 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=348938 GeneTree ENSGT00550000074395 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074395 H-InvDB HIX0005358 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0005358 HGNC HGNC:28018 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:28018 HPA HPA038258 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA038258 HPA HPA038259 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA038259 InParanoid Q0D2K0 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q0D2K0 IntAct Q0D2K0 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q0D2K0* InterPro IPR008521 http://www.ebi.ac.uk/interpro/entry/IPR008521 Jabion 348938 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=348938 KEGG_Disease H00734 http://www.genome.jp/dbget-bin/www_bget?H00734 KEGG_Gene hsa:348938 http://www.genome.jp/dbget-bin/www_bget?hsa:348938 MIM 609383 http://www.ncbi.nlm.nih.gov/omim/609383 MIM 612281 http://www.ncbi.nlm.nih.gov/omim/612281 OMA FHSWQER http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=FHSWQER Orphanet 313 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=313 Orphanet 79394 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=79394 OrthoDB EOG091G0M8A http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0M8A PANTHER PTHR12570 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12570 PSORT swissprot:NIPA4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:NIPA4_HUMAN PSORT-B swissprot:NIPA4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:NIPA4_HUMAN PSORT2 swissprot:NIPA4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:NIPA4_HUMAN Pfam PF05653 http://pfam.xfam.org/family/PF05653 PharmGKB PA164723956 http://www.pharmgkb.org/do/serve?objId=PA164723956&objCls=Gene Phobius swissprot:NIPA4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:NIPA4_HUMAN PhylomeDB Q0D2K0 http://phylomedb.org/?seqid=Q0D2K0 ProteinModelPortal Q0D2K0 http://www.proteinmodelportal.org/query/uniprot/Q0D2K0 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15317751 http://www.ncbi.nlm.nih.gov/pubmed/15317751 PubMed 15372022 http://www.ncbi.nlm.nih.gov/pubmed/15372022 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 17557927 http://www.ncbi.nlm.nih.gov/pubmed/17557927 PubMed 26456858 http://www.ncbi.nlm.nih.gov/pubmed/26456858 Reactome R-HSA-5223345 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5223345 RefSeq NP_001092757 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001092757 RefSeq NP_001165763 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001165763 STRING 9606.ENSP00000311687 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000311687&targetmode=cogs TCDB 2.A.7.25 http://www.tcdb.org/search/result.php?tc=2.A.7.25 UCSC uc003lwx http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003lwx&org=rat UniGene Hs.4285 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.4285 UniProtKB NIPA4_HUMAN http://www.uniprot.org/uniprot/NIPA4_HUMAN UniProtKB-AC Q0D2K0 http://www.uniprot.org/uniprot/Q0D2K0 charge swissprot:NIPA4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:NIPA4_HUMAN eggNOG ENOG410XNR8 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XNR8 eggNOG KOG2922 http://eggnogapi.embl.de/nog_data/html/tree/KOG2922 epestfind swissprot:NIPA4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:NIPA4_HUMAN garnier swissprot:NIPA4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:NIPA4_HUMAN helixturnhelix swissprot:NIPA4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:NIPA4_HUMAN hmoment swissprot:NIPA4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:NIPA4_HUMAN iep swissprot:NIPA4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:NIPA4_HUMAN inforesidue swissprot:NIPA4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:NIPA4_HUMAN neXtProt NX_Q0D2K0 http://www.nextprot.org/db/entry/NX_Q0D2K0 octanol swissprot:NIPA4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:NIPA4_HUMAN pepcoil swissprot:NIPA4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:NIPA4_HUMAN pepdigest swissprot:NIPA4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:NIPA4_HUMAN pepinfo swissprot:NIPA4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:NIPA4_HUMAN pepnet swissprot:NIPA4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:NIPA4_HUMAN pepstats swissprot:NIPA4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:NIPA4_HUMAN pepwheel swissprot:NIPA4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:NIPA4_HUMAN pepwindow swissprot:NIPA4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:NIPA4_HUMAN sigcleave swissprot:NIPA4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:NIPA4_HUMAN ## Database ID URL or Descriptions # AltName MOT13_HUMAN Solute carrier family 16 member 13 # BioGrid 128373 2 # CDD cd06174 MFS # ChiTaRS SLC16A13 human # DISEASE MOT13_HUMAN Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM 125853] A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to the body's own insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. {ECO 0000269|PubMed 24390345}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. # Ensembl ENST00000308027 ENSP00000309751; ENSG00000174327 # FUNCTION MOT13_HUMAN Proton-linked monocarboxylate transporter. May catalyze the transport of monocarboxylates across the plasma membrane. {ECO 0000305|PubMed 12739169}. # GO_component GO:0000139 Golgi membrane; IEA:UniProtKB-SubCell. # GO_component GO:0005794 Golgi apparatus; IDA:UniProtKB. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_function GO:0015129 lactate transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015293 symporter activity; IEA:UniProtKB-KW. # GO_process GO:0035879 plasma membrane lactate transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005794 Golgi apparatus # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0055085 transmembrane transport # HGNC HGNC:31037 SLC16A13 # InterPro IPR011701 MFS # InterPro IPR020846 MFS_dom # KEGG_Brite ko02000 Transporters # KEGG_Brite ko02001 Solute carrier family # MIM 125853 phenotype # Organism MOT13_HUMAN Homo sapiens (Human) # PROSITE PS50850 MFS # Pfam PF07690 MFS_1 # Proteomes UP000005640 Chromosome 17 # RecName MOT13_HUMAN Monocarboxylate transporter 13 # RefSeq NP_963860 NM_201566.2 # SIMILARITY Belongs to the major facilitator superfamily. Monocarboxylate porter (TC 2.A.1.13) family. {ECO 0000305}. # SUBCELLULAR LOCATION MOT13_HUMAN Golgi apparatus membrane {ECO 0000269|PubMed 24390345}; Multi-pass membrane protein {ECO 0000269|PubMed 24390345}. Cell membrane {ECO 0000255}; Multi- pass membrane protein {ECO 0000255}. # SUPFAM SSF103473 SSF103473 # TCDB 2.A.1.13.17 the major facilitator superfamily (mfs) # UCSC uc002geh human # eggNOG ENOG410IMVT Eukaryota # eggNOG ENOG4111K3V LUCA BLAST swissprot:MOT13_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:MOT13_HUMAN BioCyc ZFISH:ENSG00000174327-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000174327-MONOMER COXPRESdb 201232 http://coxpresdb.jp/data/gene/201232.shtml CleanEx HS_SLC16A13 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC16A13 DOI 10.1007/s00424-003-1067-2 http://dx.doi.org/10.1007/s00424-003-1067-2 DOI 10.1038/nature12828 http://dx.doi.org/10.1038/nature12828 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL BC109286 http://www.ebi.ac.uk/ena/data/view/BC109286 EMBL BC131739 http://www.ebi.ac.uk/ena/data/view/BC131739 EMBL BC142618 http://www.ebi.ac.uk/ena/data/view/BC142618 EMBL BN000145 http://www.ebi.ac.uk/ena/data/view/BN000145 EMBL CH471108 http://www.ebi.ac.uk/ena/data/view/CH471108 Ensembl ENST00000308027 http://www.ensembl.org/id/ENST00000308027 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000139 GO_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0015129 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015129 GO_function GO:0015293 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015293 GO_process GO:0035879 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035879 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC16A13 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC16A13 GeneID 201232 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=201232 GeneTree ENSGT00760000118926 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118926 H-InvDB HIX0039261 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0039261 HGNC HGNC:31037 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:31037 HOGENOM HOG000280688 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000280688&db=HOGENOM6 HOVERGEN HBG106552 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG106552&db=HOVERGEN HPA HPA065245 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA065245 InParanoid Q7RTY0 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q7RTY0 IntAct Q7RTY0 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q7RTY0* InterPro IPR011701 http://www.ebi.ac.uk/interpro/entry/IPR011701 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 201232 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=201232 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:201232 http://www.genome.jp/dbget-bin/www_bget?hsa:201232 KEGG_Orthology KO:K08189 http://www.genome.jp/dbget-bin/www_bget?KO:K08189 MIM 125853 http://www.ncbi.nlm.nih.gov/omim/125853 OMA DWDPLSA http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=DWDPLSA OrthoDB EOG091G05SW http://cegg.unige.ch/orthodb/results?searchtext=EOG091G05SW PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PSORT swissprot:MOT13_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:MOT13_HUMAN PSORT-B swissprot:MOT13_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:MOT13_HUMAN PSORT2 swissprot:MOT13_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:MOT13_HUMAN Pfam PF07690 http://pfam.xfam.org/family/PF07690 PharmGKB PA134991782 http://www.pharmgkb.org/do/serve?objId=PA134991782&objCls=Gene Phobius swissprot:MOT13_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:MOT13_HUMAN PhylomeDB Q7RTY0 http://phylomedb.org/?seqid=Q7RTY0 ProteinModelPortal Q7RTY0 http://www.proteinmodelportal.org/query/uniprot/Q7RTY0 PubMed 12739169 http://www.ncbi.nlm.nih.gov/pubmed/12739169 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 24390345 http://www.ncbi.nlm.nih.gov/pubmed/24390345 RefSeq NP_963860 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_963860 STRING 9606.ENSP00000309751 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000309751&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.1.13.17 http://www.tcdb.org/search/result.php?tc=2.A.1.13.17 UCSC uc002geh http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002geh&org=rat UniGene Hs.448010 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.448010 UniProtKB MOT13_HUMAN http://www.uniprot.org/uniprot/MOT13_HUMAN UniProtKB-AC Q7RTY0 http://www.uniprot.org/uniprot/Q7RTY0 charge swissprot:MOT13_HUMAN http://rest.g-language.org/emboss/charge/swissprot:MOT13_HUMAN eggNOG ENOG410IMVT http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IMVT eggNOG ENOG4111K3V http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111K3V epestfind swissprot:MOT13_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:MOT13_HUMAN garnier swissprot:MOT13_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:MOT13_HUMAN helixturnhelix swissprot:MOT13_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:MOT13_HUMAN hmoment swissprot:MOT13_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:MOT13_HUMAN iep swissprot:MOT13_HUMAN http://rest.g-language.org/emboss/iep/swissprot:MOT13_HUMAN inforesidue swissprot:MOT13_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:MOT13_HUMAN neXtProt NX_Q7RTY0 http://www.nextprot.org/db/entry/NX_Q7RTY0 octanol swissprot:MOT13_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:MOT13_HUMAN pepcoil swissprot:MOT13_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:MOT13_HUMAN pepdigest swissprot:MOT13_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:MOT13_HUMAN pepinfo swissprot:MOT13_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:MOT13_HUMAN pepnet swissprot:MOT13_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:MOT13_HUMAN pepstats swissprot:MOT13_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:MOT13_HUMAN pepwheel swissprot:MOT13_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:MOT13_HUMAN pepwindow swissprot:MOT13_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:MOT13_HUMAN sigcleave swissprot:MOT13_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:MOT13_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS CLCN2_HUMAN Event=Alternative splicing; Named isoforms=5; Name=1; IsoId=P51788-1; Sequence=Displayed; Name=2; IsoId=P51788-2; Sequence=VSP_007831, VSP_007832, VSP_036455; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=3; IsoId=P51788-3; Sequence=VSP_036456; Name=4; IsoId=P51788-4; Sequence=VSP_045457; Note=No experimental confirmation available.; Name=5; IsoId=P51788-5; Sequence=VSP_045458; Note=No experimental confirmation available.; # BioGrid 107595 19 # CCDS CCDS3263 -. [P51788-1] # CCDS CCDS54690 -. [P51788-4] # CCDS CCDS54691 -. [P51788-3] # CCDS CCDS54692 -. [P51788-5] # ChiTaRS CLCN2 human # DISEASE CLCN2_HUMAN Epilepsy, idiopathic generalized 11 (EIG11) [MIM 607628] A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. {ECO 0000269|PubMed 19191339}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. # DISEASE CLCN2_HUMAN Juvenile absence epilepsy 2 (JAE2) [MIM 607628] A subtype of idiopathic generalized epilepsy characterized by onset occurring around puberty, absence seizures, generalized tonic- clonic seizures (GTCS), GTCS on awakening, and myoclonic seizures. {ECO 0000269|PubMed 12612585, ECO 0000269|PubMed 19710712}. Note=Disease susceptibility may be associated with variations affecting the gene represented in this entry. # DISEASE CLCN2_HUMAN Juvenile myoclonic epilepsy 8 (EJM8) [MIM 607628] A subtype of idiopathic generalized epilepsy. Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue. {ECO 0000269|PubMed 19191339}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. # DISEASE CLCN2_HUMAN Leukoencephalopathy with ataxia (LKPAT) [MIM 615651] An autosomal recessive neurologic disorder with a characteristic pattern of white matter abnormalities on brain MRI. Affected individuals have prominent signal abnormalities and decreased apparent diffusion coefficient values in the posterior limbs of the internal capsules, middle cerebral peduncles, pyramidal tracts in the pons, and middle cerebellar peduncles, suggesting myelin microvacuolation. Clinical features include ataxia and unstable gait. More variable abnormalities may include visual field defects, headaches, and learning disabilities. {ECO 0000269|PubMed 23707145}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DrugBank DB01046 Lubiprostone # Ensembl ENST00000265593 ENSP00000265593; ENSG00000114859. [P51788-1] # Ensembl ENST00000344937 ENSP00000345056; ENSG00000114859. [P51788-3] # Ensembl ENST00000434054 ENSP00000400425; ENSG00000114859. [P51788-4] # Ensembl ENST00000457512 ENSP00000391928; ENSG00000114859. [P51788-5] # ExpressionAtlas P51788 baseline and differential # FUNCTION CLCN2_HUMAN Voltage-gated chloride channel. Chloride channels have several functions including the regulation of cell volume; membrane potential stabilization, signal transduction and transepithelial transport. {ECO 0000269|PubMed 19153159, ECO 0000269|PubMed 19191339}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0034707 chloride channel complex; IEA:UniProtKB-KW. # GO_function GO:0005247 voltage-gated chloride channel activity; TAS:Reactome. # GO_function GO:0031404 chloride ion binding; IBA:GO_Central. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0060041 retina development in camera-type eye; IEA:Ensembl. # GO_process GO:0060689 cell differentiation involved in salivary gland development; IEA:Ensembl. # GO_process GO:1902476 chloride transmembrane transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0030154 cell differentiation # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.10.3080.10 -; 1. # Genevisible P51788 HS # HGNC HGNC:2020 CLCN2 # IntAct P51788 31 # InterPro IPR000644 CBS_dom # InterPro IPR001807 Cl-channel_volt-gated # InterPro IPR002244 Cl-channel-2 # InterPro IPR014743 Cl-channel_core # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00808 [Nervous system disease] Familial infantile myoclonic epilepsy (FIME) # KEGG_Pathway ko04978 Mineral absorption # MIM 600570 gene # MIM 607628 phenotype # MIM 615651 phenotype # MISCELLANEOUS The CLC channel family contains both chloride channels and proton-coupled anion transporters that exchange chloride or another anion for protons. The absence of conserved gating glutamate residues is typical for family members that function as channels (By similarity). {ECO 0000250}. # Organism CLCN2_HUMAN Homo sapiens (Human) # Orphanet 307 Juvenile myoclonic epilepsy # Orphanet 363540 Leukoencephalopathy with mild cerebellar ataxia and white matter edema # PRINTS PR00762 CLCHANNEL # PRINTS PR01113 CLCHANNEL2 # PROSITE PS51371 CBS; 2 # PTM CLCN2_HUMAN Phosphorylated. Activated by dephosphorylation. {ECO 0000250|UniProtKB P35525}. # Pfam PF00654 Voltage_CLC # Proteomes UP000005640 Chromosome 3 # Reactome R-HSA-2672351 Stimuli-sensing channels # RecName CLCN2_HUMAN Chloride channel protein 2 # RefSeq NP_001164558 NM_001171087.2. [P51788-3] # RefSeq NP_001164559 NM_001171088.2. [P51788-4] # RefSeq NP_001164560 NM_001171089.2. [P51788-5] # RefSeq NP_004357 NM_004366.5. [P51788-1] # SEQUENCE CAUTION Sequence=AAH21578.1; Type=Erroneous translation; Note=Wrong choice of frame.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the chloride channel (TC 2.A.49) family. ClC-2/CLCN2 subfamily. {ECO 0000305}. # SIMILARITY Contains 2 CBS domains. {ECO:0000255|PROSITE- ProRule PRU00703}. # SUBCELLULAR LOCATION CLCN2_HUMAN Cell membrane {ECO 0000250|UniProtKB P35525}; Multi-pass membrane protein. # SUPFAM SSF81340 SSF81340 # TCDB 2.A.49.2.12 the chloride carrier/channel (clc) family # TISSUE SPECIFICITY Ubiquitously expressed. Moderately expressed in aortic and coronary vascular smooth muscle cells and expressed at a low level in aortic endothelial cells. {ECO:0000269|PubMed 10198195}. # UCSC uc003foi human. [P51788-1] # eggNOG COG0038 LUCA # eggNOG KOG0476 Eukaryota BLAST swissprot:CLCN2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CLCN2_HUMAN BioCyc ZFISH:ENSG00000114859-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000114859-MONOMER COXPRESdb 1181 http://coxpresdb.jp/data/gene/1181.shtml CleanEx HS_CLCN2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CLCN2 DOI 10.1002/humu.20876 http://dx.doi.org/10.1002/humu.20876 DOI 10.1006/jmcc.1998.0901 http://dx.doi.org/10.1006/jmcc.1998.0901 DOI 10.1016/S1474-4422(13)70053-X http://dx.doi.org/10.1016/S1474-4422(13)70053-X DOI 10.1016/j.brainresbull.2009.01.008 http://dx.doi.org/10.1016/j.brainresbull.2009.01.008 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature04728 http://dx.doi.org/10.1038/nature04728 DOI 10.1038/ng0909-1043 http://dx.doi.org/10.1038/ng0909-1043 DOI 10.1038/ng0909-954 http://dx.doi.org/10.1038/ng0909-954 DOI 10.1038/ng1121 http://dx.doi.org/10.1038/ng1121 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.1210303109 http://dx.doi.org/10.1073/pnas.1210303109 DOI 10.1093/hmg/4.3.407 http://dx.doi.org/10.1093/hmg/4.3.407 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1113/jphysiol.2008.167353 http://dx.doi.org/10.1113/jphysiol.2008.167353 DOI 10.1159/000107528 http://dx.doi.org/10.1159/000107528 DrugBank DB01046 http://www.drugbank.ca/drugs/DB01046 EMBL AC078797 http://www.ebi.ac.uk/ena/data/view/AC078797 EMBL AF026004 http://www.ebi.ac.uk/ena/data/view/AF026004 EMBL AK298952 http://www.ebi.ac.uk/ena/data/view/AK298952 EMBL AK302759 http://www.ebi.ac.uk/ena/data/view/AK302759 EMBL BC021578 http://www.ebi.ac.uk/ena/data/view/BC021578 EMBL BC072004 http://www.ebi.ac.uk/ena/data/view/BC072004 EMBL S77770 http://www.ebi.ac.uk/ena/data/view/S77770 Ensembl ENST00000265593 http://www.ensembl.org/id/ENST00000265593 Ensembl ENST00000344937 http://www.ensembl.org/id/ENST00000344937 Ensembl ENST00000434054 http://www.ensembl.org/id/ENST00000434054 Ensembl ENST00000457512 http://www.ensembl.org/id/ENST00000457512 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0034707 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034707 GO_function GO:0005247 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005247 GO_function GO:0031404 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031404 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0060041 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060041 GO_process GO:0060689 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060689 GO_process GO:1902476 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902476 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0030154 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030154 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.10.3080.10 http://www.cathdb.info/version/latest/superfamily/1.10.3080.10 GeneCards CLCN2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CLCN2 GeneID 1181 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=1181 GeneTree ENSGT00760000119109 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119109 HGNC HGNC:2020 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:2020 HOGENOM HOG000231297 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231297&db=HOGENOM6 HOVERGEN HBG005332 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG005332&db=HOVERGEN HPA CAB009397 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB009397 HPA HPA014545 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA014545 HPA HPA024108 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA024108 InParanoid P51788 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P51788 IntAct P51788 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P51788* InterPro IPR000644 http://www.ebi.ac.uk/interpro/entry/IPR000644 InterPro IPR001807 http://www.ebi.ac.uk/interpro/entry/IPR001807 InterPro IPR002244 http://www.ebi.ac.uk/interpro/entry/IPR002244 InterPro IPR014743 http://www.ebi.ac.uk/interpro/entry/IPR014743 Jabion 1181 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=1181 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00808 http://www.genome.jp/dbget-bin/www_bget?H00808 KEGG_Gene hsa:1181 http://www.genome.jp/dbget-bin/www_bget?hsa:1181 KEGG_Orthology KO:K05011 http://www.genome.jp/dbget-bin/www_bget?KO:K05011 KEGG_Pathway ko04978 http://www.genome.jp/kegg-bin/show_pathway?ko04978 MIM 600570 http://www.ncbi.nlm.nih.gov/omim/600570 MIM 607628 http://www.ncbi.nlm.nih.gov/omim/607628 MIM 615651 http://www.ncbi.nlm.nih.gov/omim/615651 OMA ESCEKRK http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=ESCEKRK Orphanet 307 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=307 Orphanet 363540 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=363540 OrthoDB EOG091G01RJ http://cegg.unige.ch/orthodb/results?searchtext=EOG091G01RJ PRINTS PR00762 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00762 PRINTS PR01113 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01113 PROSITE PS51371 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51371 PSORT swissprot:CLCN2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CLCN2_HUMAN PSORT-B swissprot:CLCN2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CLCN2_HUMAN PSORT2 swissprot:CLCN2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CLCN2_HUMAN Pfam PF00654 http://pfam.xfam.org/family/PF00654 PharmGKB PA26547 http://www.pharmgkb.org/do/serve?objId=PA26547&objCls=Gene Phobius swissprot:CLCN2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CLCN2_HUMAN PhylomeDB P51788 http://phylomedb.org/?seqid=P51788 ProteinModelPortal P51788 http://www.proteinmodelportal.org/query/uniprot/P51788 PubMed 10198195 http://www.ncbi.nlm.nih.gov/pubmed/10198195 PubMed 12612585 http://www.ncbi.nlm.nih.gov/pubmed/12612585 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16641997 http://www.ncbi.nlm.nih.gov/pubmed/16641997 PubMed 17762171 http://www.ncbi.nlm.nih.gov/pubmed/17762171 PubMed 19153159 http://www.ncbi.nlm.nih.gov/pubmed/19153159 PubMed 19191339 http://www.ncbi.nlm.nih.gov/pubmed/19191339 PubMed 19200853 http://www.ncbi.nlm.nih.gov/pubmed/19200853 PubMed 19710712 http://www.ncbi.nlm.nih.gov/pubmed/19710712 PubMed 19710717 http://www.ncbi.nlm.nih.gov/pubmed/19710717 PubMed 22814378 http://www.ncbi.nlm.nih.gov/pubmed/22814378 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 23707145 http://www.ncbi.nlm.nih.gov/pubmed/23707145 PubMed 7795595 http://www.ncbi.nlm.nih.gov/pubmed/7795595 Reactome R-HSA-2672351 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2672351 RefSeq NP_001164558 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001164558 RefSeq NP_001164559 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001164559 RefSeq NP_001164560 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001164560 RefSeq NP_004357 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004357 STRING 9606.ENSP00000265593 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000265593&targetmode=cogs SUPFAM SSF81340 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81340 TCDB 2.A.49.2.12 http://www.tcdb.org/search/result.php?tc=2.A.49.2.12 UCSC uc003foi http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003foi&org=rat UniGene Hs.436847 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.436847 UniProtKB CLCN2_HUMAN http://www.uniprot.org/uniprot/CLCN2_HUMAN UniProtKB-AC P51788 http://www.uniprot.org/uniprot/P51788 charge swissprot:CLCN2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CLCN2_HUMAN eggNOG COG0038 http://eggnogapi.embl.de/nog_data/html/tree/COG0038 eggNOG KOG0476 http://eggnogapi.embl.de/nog_data/html/tree/KOG0476 epestfind swissprot:CLCN2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CLCN2_HUMAN garnier swissprot:CLCN2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CLCN2_HUMAN helixturnhelix swissprot:CLCN2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CLCN2_HUMAN hmoment swissprot:CLCN2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CLCN2_HUMAN iep swissprot:CLCN2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CLCN2_HUMAN inforesidue swissprot:CLCN2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CLCN2_HUMAN neXtProt NX_P51788 http://www.nextprot.org/db/entry/NX_P51788 octanol swissprot:CLCN2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CLCN2_HUMAN pepcoil swissprot:CLCN2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CLCN2_HUMAN pepdigest swissprot:CLCN2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CLCN2_HUMAN pepinfo swissprot:CLCN2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CLCN2_HUMAN pepnet swissprot:CLCN2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CLCN2_HUMAN pepstats swissprot:CLCN2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CLCN2_HUMAN pepwheel swissprot:CLCN2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CLCN2_HUMAN pepwindow swissprot:CLCN2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CLCN2_HUMAN sigcleave swissprot:CLCN2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CLCN2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS TPC10_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P48553-1; Sequence=Displayed; Name=2; IsoId=P48553-2; Sequence=VSP_056589, VSP_056590; Note=No experimental confirmation available.; # AltName TPC10_HUMAN Epilepsy holoprosencephaly candidate 1 protein # AltName TPC10_HUMAN Protein GT334 # AltName TPC10_HUMAN Trafficking protein particle complex subunit TMEM1 # AltName TPC10_HUMAN Transport protein particle subunit TMEM1 # BioGrid 112964 31 # CCDS CCDS13704 -. [P48553-1] # ChiTaRS TRAPPC10 human # Ensembl ENST00000291574 ENSP00000291574; ENSG00000160218. [P48553-1] # Ensembl ENST00000380221 ENSP00000369570; ENSG00000160218. [P48553-2] # ExpressionAtlas P48553 baseline and differential # FUNCTION TPC10_HUMAN May play a role in vesicular transport from endoplasmic reticulum to Golgi. # GO_component GO:0000139 Golgi membrane; IEA:GOC. # GO_component GO:0005829 cytosol; TAS:Reactome. # GO_component GO:0016021 integral component of membrane; TAS:ProtInc. # GO_component GO:1990071 TRAPPII protein complex; IBA:GO_Central. # GO_function GO:0015081 sodium ion transmembrane transporter activity; TAS:ProtInc. # GO_process GO:0006814 sodium ion transport; TAS:ProtInc. # GO_process GO:0006891 intra-Golgi vesicle-mediated transport; IBA:GO_Central. # GO_process GO:0034498 early endosome to Golgi transport; IBA:GO_Central. # GO_process GO:0048208 COPII vesicle coating; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005829 cytosol # GOslim_component GO:0043234 protein complex # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # GOslim_process GO:0016192 vesicle-mediated transport # Genevisible P48553 HS # HGNC HGNC:11868 TRAPPC10 # INTERACTION TPC10_HUMAN Q96QF0 RAB3IP; NbExp=7; IntAct=EBI-6160572, EBI-747844; # IntAct P48553 2 # InterPro IPR022233 TRAPP_II_complex_TRAPPC10 # MIM 602103 gene # Organism TPC10_HUMAN Homo sapiens (Human) # PIR JC5523 JC5523 # Pfam PF12584 TRAPPC10 # Proteomes UP000005640 Chromosome 21 # Reactome R-HSA-204005 COPII (Coat Protein 2) Mediated Vesicle Transport # Reactome R-HSA-8876198 RAB GEFs exchange GTP for GDP on RABs # RecName TPC10_HUMAN Trafficking protein particle complex subunit 10 # RefSeq NP_003265 NM_003274.4. [P48553-1] # RefSeq XP_016855323 XM_016999834.1. [P48553-1] # SEQUENCE CAUTION Sequence=AAC50134.1; Type=Frameshift; Positions=1187; Evidence={ECO 0000305}; # SIMILARITY Belongs to the TMEM1 family. {ECO 0000305}. # SUBCELLULAR LOCATION TPC10_HUMAN Golgi apparatus, cis-Golgi network {ECO 0000250}. # SUBUNIT TPC10_HUMAN Component of the multisubunit TRAPP (transport protein particle) complex, which includes at least TRAPPC2, TRAPPC2L, TRAPPC3, TRAPPC3L, TRAPPC4, TRAPPC5, TRAPPC8, TRAPPC9, TRAPPC10, TRAPPC11 and TRAPPC12. {ECO 0000269|PubMed 11805826, ECO 0000269|PubMed 21525244}. # TISSUE SPECIFICITY TPC10_HUMAN Expressed in all tissues examined. # UCSC uc002zdz human. [P48553-1] # eggNOG ENOG410XNVF LUCA # eggNOG KOG1931 Eukaryota BLAST swissprot:TPC10_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:TPC10_HUMAN BioCyc ZFISH:ENSG00000160218-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000160218-MONOMER COXPRESdb 7109 http://coxpresdb.jp/data/gene/7109.shtml CleanEx HS_TRAPPC10 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_TRAPPC10 DIP DIP-48281N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-48281N DOI 10.1006/bbrc.1997.6758 http://dx.doi.org/10.1006/bbrc.1997.6758 DOI 10.1016/S0378-1119(97)00333-8 http://dx.doi.org/10.1016/S0378-1119(97)00333-8 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/35012518 http://dx.doi.org/10.1038/35012518 DOI 10.1038/415141a http://dx.doi.org/10.1038/415141a DOI 10.1091/mbc.E10-11-0873 http://dx.doi.org/10.1091/mbc.E10-11-0873 DOI 10.1093/hmg/4.4.709 http://dx.doi.org/10.1093/hmg/4.4.709 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 EMBL AB001517 http://www.ebi.ac.uk/ena/data/view/AB001517 EMBL AB001523 http://www.ebi.ac.uk/ena/data/view/AB001523 EMBL BC046241 http://www.ebi.ac.uk/ena/data/view/BC046241 EMBL BC052247 http://www.ebi.ac.uk/ena/data/view/BC052247 EMBL BC094823 http://www.ebi.ac.uk/ena/data/view/BC094823 EMBL BC101728 http://www.ebi.ac.uk/ena/data/view/BC101728 EMBL U19252 http://www.ebi.ac.uk/ena/data/view/U19252 EMBL U61500 http://www.ebi.ac.uk/ena/data/view/U61500 EMBL U61501 http://www.ebi.ac.uk/ena/data/view/U61501 EMBL U61502 http://www.ebi.ac.uk/ena/data/view/U61502 EMBL U61503 http://www.ebi.ac.uk/ena/data/view/U61503 EMBL U61504 http://www.ebi.ac.uk/ena/data/view/U61504 EMBL U61505 http://www.ebi.ac.uk/ena/data/view/U61505 EMBL U61506 http://www.ebi.ac.uk/ena/data/view/U61506 EMBL U61507 http://www.ebi.ac.uk/ena/data/view/U61507 EMBL U61508 http://www.ebi.ac.uk/ena/data/view/U61508 EMBL U61509 http://www.ebi.ac.uk/ena/data/view/U61509 EMBL U61510 http://www.ebi.ac.uk/ena/data/view/U61510 EMBL U61511 http://www.ebi.ac.uk/ena/data/view/U61511 EMBL U61512 http://www.ebi.ac.uk/ena/data/view/U61512 EMBL U61513 http://www.ebi.ac.uk/ena/data/view/U61513 EMBL U61514 http://www.ebi.ac.uk/ena/data/view/U61514 EMBL U61515 http://www.ebi.ac.uk/ena/data/view/U61515 EMBL U61516 http://www.ebi.ac.uk/ena/data/view/U61516 EMBL U61517 http://www.ebi.ac.uk/ena/data/view/U61517 EMBL U61518 http://www.ebi.ac.uk/ena/data/view/U61518 EMBL U61519 http://www.ebi.ac.uk/ena/data/view/U61519 EMBL U61520 http://www.ebi.ac.uk/ena/data/view/U61520 Ensembl ENST00000291574 http://www.ensembl.org/id/ENST00000291574 Ensembl ENST00000380221 http://www.ensembl.org/id/ENST00000380221 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000139 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:1990071 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1990071 GO_function GO:0015081 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015081 GO_process GO:0006814 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006814 GO_process GO:0006891 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006891 GO_process GO:0034498 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034498 GO_process GO:0048208 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048208 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0016192 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016192 GeneCards TRAPPC10 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=TRAPPC10 GeneID 7109 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=7109 GeneTree ENSGT00390000003873 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000003873 HGNC HGNC:11868 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11868 HOGENOM HOG000046007 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000046007&db=HOGENOM6 HOVERGEN HBG108593 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG108593&db=HOVERGEN HPA HPA050423 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA050423 InParanoid P48553 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P48553 IntAct P48553 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P48553* InterPro IPR022233 http://www.ebi.ac.uk/interpro/entry/IPR022233 Jabion 7109 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=7109 KEGG_Gene hsa:7109 http://www.genome.jp/dbget-bin/www_bget?hsa:7109 MIM 602103 http://www.ncbi.nlm.nih.gov/omim/602103 OMA ALDCWVF http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=ALDCWVF OrthoDB EOG091G02NV http://cegg.unige.ch/orthodb/results?searchtext=EOG091G02NV PSORT swissprot:TPC10_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:TPC10_HUMAN PSORT-B swissprot:TPC10_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:TPC10_HUMAN PSORT2 swissprot:TPC10_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:TPC10_HUMAN Pfam PF12584 http://pfam.xfam.org/family/PF12584 PharmGKB PA162406870 http://www.pharmgkb.org/do/serve?objId=PA162406870&objCls=Gene Phobius swissprot:TPC10_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:TPC10_HUMAN PhylomeDB P48553 http://phylomedb.org/?seqid=P48553 ProteinModelPortal P48553 http://www.proteinmodelportal.org/query/uniprot/P48553 PubMed 10830953 http://www.ncbi.nlm.nih.gov/pubmed/10830953 PubMed 11805826 http://www.ncbi.nlm.nih.gov/pubmed/11805826 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 21525244 http://www.ncbi.nlm.nih.gov/pubmed/21525244 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 7633421 http://www.ncbi.nlm.nih.gov/pubmed/7633421 PubMed 9196060 http://www.ncbi.nlm.nih.gov/pubmed/9196060 PubMed 9370297 http://www.ncbi.nlm.nih.gov/pubmed/9370297 Reactome R-HSA-204005 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-204005 Reactome R-HSA-8876198 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-8876198 RefSeq NP_003265 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_003265 RefSeq XP_016855323 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016855323 SMR P48553 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P48553 STRING 9606.ENSP00000291574 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000291574&targetmode=cogs UCSC uc002zdz http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002zdz&org=rat UniGene Hs.126221 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.126221 UniProtKB TPC10_HUMAN http://www.uniprot.org/uniprot/TPC10_HUMAN UniProtKB-AC P48553 http://www.uniprot.org/uniprot/P48553 charge swissprot:TPC10_HUMAN http://rest.g-language.org/emboss/charge/swissprot:TPC10_HUMAN eggNOG ENOG410XNVF http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XNVF eggNOG KOG1931 http://eggnogapi.embl.de/nog_data/html/tree/KOG1931 epestfind swissprot:TPC10_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:TPC10_HUMAN garnier swissprot:TPC10_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:TPC10_HUMAN helixturnhelix swissprot:TPC10_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:TPC10_HUMAN hmoment swissprot:TPC10_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:TPC10_HUMAN iep swissprot:TPC10_HUMAN http://rest.g-language.org/emboss/iep/swissprot:TPC10_HUMAN inforesidue swissprot:TPC10_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:TPC10_HUMAN neXtProt NX_P48553 http://www.nextprot.org/db/entry/NX_P48553 octanol swissprot:TPC10_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:TPC10_HUMAN pepcoil swissprot:TPC10_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:TPC10_HUMAN pepdigest swissprot:TPC10_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:TPC10_HUMAN pepinfo swissprot:TPC10_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:TPC10_HUMAN pepnet swissprot:TPC10_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:TPC10_HUMAN pepstats swissprot:TPC10_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:TPC10_HUMAN pepwheel swissprot:TPC10_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:TPC10_HUMAN pepwindow swissprot:TPC10_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:TPC10_HUMAN sigcleave swissprot:TPC10_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:TPC10_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS VATO_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q99437-1; Sequence=Displayed; Name=2; IsoId=Q99437-2; Sequence=VSP_046288; Note=No experimental confirmation available. Gene prediction based on EST data.; # AltName VATO_HUMAN Vacuolar proton pump 21 kDa proteolipid subunit # AltName VATO_HUMAN hATPL # BioGrid 107016 7 # CCDS CCDS41315 -. [Q99437-2] # CCDS CCDS505 -. [Q99437-1] # ChiTaRS ATP6V0B human # Ensembl ENST00000236067 ENSP00000236067; ENSG00000117410. [Q99437-2] # Ensembl ENST00000472174 ENSP00000431605; ENSG00000117410. [Q99437-1] # Ensembl ENST00000498664 ENSP00000434094; ENSG00000117410. [Q99437-2] # ExpressionAtlas Q99437 baseline and differential # FUNCTION VATO_HUMAN Proton-conducting pore forming subunit of the membrane integral V0 complex of vacuolar ATPase. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. # GO_component GO:0000220 vacuolar proton-transporting V-type ATPase, V0 domain; IBA:GO_Central. # GO_component GO:0010008 endosome membrane; TAS:Reactome. # GO_component GO:0016021 integral component of membrane; TAS:ProtInc. # GO_component GO:0030670 phagocytic vesicle membrane; TAS:Reactome. # GO_function GO:0005215 transporter activity; TAS:ProtInc. # GO_function GO:0046961 proton-transporting ATPase activity, rotational mechanism; IBA:GO_Central. # GO_process GO:0007035 vacuolar acidification; IBA:GO_Central. # GO_process GO:0008286 insulin receptor signaling pathway; TAS:Reactome. # GO_process GO:0015991 ATP hydrolysis coupled proton transport; IEA:InterPro. # GO_process GO:0015992 proton transport; TAS:ProtInc. # GO_process GO:0016241 regulation of macroautophagy; NAS:ParkinsonsUK-UCL. # GO_process GO:0033572 transferrin transport; TAS:Reactome. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0090383 phagosome acidification; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Genevisible Q99437 HS # HGNC HGNC:861 ATP6V0B # IntAct Q99437 4 # InterPro IPR000245 ATPase_proteolipid_csu # InterPro IPR002379 ATPase_proteolipid_c-like_dom # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Brite ko01000 Enzymes # KEGG_Pathway ko00190 Oxidative phosphorylation # KEGG_Pathway ko04142 Lysosome # KEGG_Pathway ko04145 Phagosome # KEGG_Pathway ko04721 Synaptic vesicle cycle # KEGG_Pathway ko05110 Vibrio cholerae infection # KEGG_Pathway ko05120 Epithelial cell signaling in Helicobacter pylori infection # KEGG_Pathway ko05152 Tuberculosis # KEGG_Pathway ko05323 Rheumatoid arthritis # MIM 603717 gene # Organism VATO_HUMAN Homo sapiens (Human) # PRINTS PR00122 VACATPASE # Pfam PF00137 ATP-synt_C; 2 # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-1222556 ROS, RNS production in response to bacteria # Reactome R-HSA-77387 Insulin receptor recycling # Reactome R-HSA-917977 Transferrin endocytosis and recycling # Reactome R-HSA-983712 Ion channel transport # RecName VATO_HUMAN V-type proton ATPase 21 kDa proteolipid subunit # RefSeq NP_001034546 NM_001039457.2. [Q99437-2] # RefSeq NP_004038 NM_004047.4. [Q99437-1] # SIMILARITY Belongs to the V-ATPase proteolipid subunit family. {ECO 0000305}. # SUBCELLULAR LOCATION VATO_HUMAN Vacuole membrane; Multi-pass membrane protein. # SUBUNIT Interacts with IFITM3. {ECO 0000250}. # SUPFAM SSF81333 SSF81333; 2 # TISSUE SPECIFICITY VATO_HUMAN Ubiquitous. # UCSC uc001cld human. [Q99437-1] # eggNOG COG0636 LUCA # eggNOG KOG0233 Eukaryota BLAST swissprot:VATO_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:VATO_HUMAN BioCyc MetaCyc:ENSG00000117410-MONOMER http://biocyc.org/getid?id=MetaCyc:ENSG00000117410-MONOMER BioCyc ZFISH:ENSG00000117410-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000117410-MONOMER COG COG0636 http://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=COG0636 COXPRESdb 533 http://coxpresdb.jp/data/gene/533.shtml CleanEx HS_ATP6V0B http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ATP6V0B DOI 10.1006/geno.1998.5310 http://dx.doi.org/10.1006/geno.1998.5310 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1133427 http://dx.doi.org/10.1126/science.1133427 EMBL AL357079 http://www.ebi.ac.uk/ena/data/view/AL357079 EMBL BC000423 http://www.ebi.ac.uk/ena/data/view/BC000423 EMBL BC005876 http://www.ebi.ac.uk/ena/data/view/BC005876 EMBL BT007151 http://www.ebi.ac.uk/ena/data/view/BT007151 EMBL CH471059 http://www.ebi.ac.uk/ena/data/view/CH471059 EMBL CH471059 http://www.ebi.ac.uk/ena/data/view/CH471059 EMBL CH471059 http://www.ebi.ac.uk/ena/data/view/CH471059 EMBL CR456972 http://www.ebi.ac.uk/ena/data/view/CR456972 EMBL D89052 http://www.ebi.ac.uk/ena/data/view/D89052 Ensembl ENST00000236067 http://www.ensembl.org/id/ENST00000236067 Ensembl ENST00000472174 http://www.ensembl.org/id/ENST00000472174 Ensembl ENST00000498664 http://www.ensembl.org/id/ENST00000498664 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000220 GO_component GO:0010008 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010008 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0030670 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030670 GO_function GO:0005215 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005215 GO_function GO:0046961 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046961 GO_process GO:0007035 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007035 GO_process GO:0008286 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008286 GO_process GO:0015991 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015991 GO_process GO:0015992 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015992 GO_process GO:0016241 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016241 GO_process GO:0033572 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033572 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0090383 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090383 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards ATP6V0B http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ATP6V0B GeneID 533 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=533 GeneTree ENSGT00550000075120 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000075120 HGNC HGNC:861 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:861 HOGENOM HOG000056522 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000056522&db=HOGENOM6 HOVERGEN HBG105033 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG105033&db=HOVERGEN HPA HPA044281 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA044281 InParanoid Q99437 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q99437 IntAct Q99437 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q99437* InterPro IPR000245 http://www.ebi.ac.uk/interpro/entry/IPR000245 InterPro IPR002379 http://www.ebi.ac.uk/interpro/entry/IPR002379 Jabion 533 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=533 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00002 http://www.genome.jp/dbget-bin/www_bget?ko00002 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Gene hsa:533 http://www.genome.jp/dbget-bin/www_bget?hsa:533 KEGG_Orthology KO:K03661 http://www.genome.jp/dbget-bin/www_bget?KO:K03661 KEGG_Pathway ko00190 http://www.genome.jp/kegg-bin/show_pathway?ko00190 KEGG_Pathway ko04142 http://www.genome.jp/kegg-bin/show_pathway?ko04142 KEGG_Pathway ko04145 http://www.genome.jp/kegg-bin/show_pathway?ko04145 KEGG_Pathway ko04721 http://www.genome.jp/kegg-bin/show_pathway?ko04721 KEGG_Pathway ko05110 http://www.genome.jp/kegg-bin/show_pathway?ko05110 KEGG_Pathway ko05120 http://www.genome.jp/kegg-bin/show_pathway?ko05120 KEGG_Pathway ko05152 http://www.genome.jp/kegg-bin/show_pathway?ko05152 KEGG_Pathway ko05323 http://www.genome.jp/kegg-bin/show_pathway?ko05323 MIM 603717 http://www.ncbi.nlm.nih.gov/omim/603717 PRINTS PR00122 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00122 PSORT swissprot:VATO_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:VATO_HUMAN PSORT-B swissprot:VATO_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:VATO_HUMAN PSORT2 swissprot:VATO_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:VATO_HUMAN Pfam PF00137 http://pfam.xfam.org/family/PF00137 PharmGKB PA25148 http://www.pharmgkb.org/do/serve?objId=PA25148&objCls=Gene Phobius swissprot:VATO_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:VATO_HUMAN PhylomeDB Q99437 http://phylomedb.org/?seqid=Q99437 ProteinModelPortal Q99437 http://www.proteinmodelportal.org/query/uniprot/Q99437 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 16959974 http://www.ncbi.nlm.nih.gov/pubmed/16959974 PubMed 9653649 http://www.ncbi.nlm.nih.gov/pubmed/9653649 Reactome R-HSA-1222556 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1222556 Reactome R-HSA-77387 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-77387 Reactome R-HSA-917977 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-917977 Reactome R-HSA-983712 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-983712 RefSeq NP_001034546 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001034546 RefSeq NP_004038 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004038 STRING 9606.ENSP00000431605 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000431605&targetmode=cogs STRING COG0636 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=COG0636&targetmode=cogs SUPFAM SSF81333 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81333 UCSC uc001cld http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001cld&org=rat UniGene Hs.596514 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.596514 UniProtKB VATO_HUMAN http://www.uniprot.org/uniprot/VATO_HUMAN UniProtKB-AC Q99437 http://www.uniprot.org/uniprot/Q99437 charge swissprot:VATO_HUMAN http://rest.g-language.org/emboss/charge/swissprot:VATO_HUMAN eggNOG COG0636 http://eggnogapi.embl.de/nog_data/html/tree/COG0636 eggNOG KOG0233 http://eggnogapi.embl.de/nog_data/html/tree/KOG0233 epestfind swissprot:VATO_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:VATO_HUMAN garnier swissprot:VATO_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:VATO_HUMAN helixturnhelix swissprot:VATO_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:VATO_HUMAN hmoment swissprot:VATO_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:VATO_HUMAN iep swissprot:VATO_HUMAN http://rest.g-language.org/emboss/iep/swissprot:VATO_HUMAN inforesidue swissprot:VATO_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:VATO_HUMAN neXtProt NX_Q99437 http://www.nextprot.org/db/entry/NX_Q99437 octanol swissprot:VATO_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:VATO_HUMAN pepcoil swissprot:VATO_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:VATO_HUMAN pepdigest swissprot:VATO_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:VATO_HUMAN pepinfo swissprot:VATO_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:VATO_HUMAN pepnet swissprot:VATO_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:VATO_HUMAN pepstats swissprot:VATO_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:VATO_HUMAN pepwheel swissprot:VATO_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:VATO_HUMAN pepwindow swissprot:VATO_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:VATO_HUMAN sigcleave swissprot:VATO_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:VATO_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S22AH_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; Synonyms=NgalR-1; IsoId=Q8WUG5-1; Sequence=Displayed; Name=2; Synonyms=NgalR-2; IsoId=Q8WUG5-2; Sequence=VSP_003774; Name=3; Synonyms=NgalR-3; IsoId=Q8WUG5-3; Sequence=VSP_039782, VSP_039783; # AltName S22AH_HUMAN 24p3 receptor # AltName S22AH_HUMAN Brain-type organic cation transporter # AltName S22AH_HUMAN Lipocalin-2 receptor # AltName S22AH_HUMAN Neutrophil gelatinase-associated lipocalin receptor # CCDS CCDS9593 -. [Q8WUG5-1] # CCDS CCDS9594 -. [Q8WUG5-2] # CDD cd06174 MFS # ChiTaRS SLC22A17 human # Ensembl ENST00000206544 ENSP00000206544; ENSG00000092096. [Q8WUG5-1] # Ensembl ENST00000397267 ENSP00000380437; ENSG00000092096. [Q8WUG5-1] # ExpressionAtlas Q8WUG5 baseline and differential # FUNCTION S22AH_HUMAN Cell surface receptor for LCN2 (24p3) that plays a key role in iron homeostasis and transport. Able to bind iron-bound LCN2 (holo-24p3), followed by internalization of holo-24p3 and release of iron, thereby increasing intracellular iron concentration and leading to inhibition of apoptosis. Also binds iron-free LCN2 (apo-24p3), followed by internalization of apo-24p3 and its association with an intracellular siderophore, leading to iron chelation and iron transfer to the extracellular medium, thereby reducing intracellular iron concentration and resulting in apoptosis (By similarity). {ECO 0000250}. # GO_component GO:0005774 vacuolar membrane; IEA:UniProtKB-SubCell. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IDA:UniProtKB. # GO_component GO:0031301 integral component of organelle membrane; IDA:UniProtKB. # GO_function GO:0004888 transmembrane signaling receptor activity; ISS:UniProtKB. # GO_function GO:0008514 organic anion transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0022857 transmembrane transporter activity; TAS:Reactome. # GO_process GO:0006879 cellular iron ion homeostasis; TAS:Reactome. # GO_process GO:0015891 siderophore transport; ISS:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0042592 homeostatic process # Genevisible Q8WUG5 HS # HGNC HGNC:23095 SLC22A17 # INDUCTION S22AH_HUMAN Expression is activated by RUNX3. Repressed by the oncoprotein BCR-ABL; BCR-ABL misregulates expression by inducing a switch in binding from RUNX3 to RUNX1, a repressor of 24p3R expression, through a Ras signaling pathway. {ECO 0000269|PubMed 16377569, ECO 0000269|PubMed 19229297}. # InterPro IPR005828 MFS_sugar_transport-like # InterPro IPR005829 Sugar_transporter_CS # InterPro IPR020846 MFS_dom # KEGG_Brite ko02000 Transporters # KEGG_Brite ko02001 Solute carrier family # MIM 611461 gene # Organism S22AH_HUMAN Homo sapiens (Human) # PROSITE PS00216 SUGAR_TRANSPORT_1; 2 # PROSITE PS50850 MFS # Pfam PF00083 Sugar_tr # Proteomes UP000005640 Chromosome 14 # Reactome R-HSA-917937 Iron uptake and transport # RecName S22AH_HUMAN Solute carrier family 22 member 17 # RefSeq NP_001275979 NM_001289050.1 # RefSeq NP_057693 NM_016609.4. [Q8WUG5-2] # RefSeq NP_065105 NM_020372.3. [Q8WUG5-1] # RefSeq XP_005267804 XM_005267747.4. [Q8WUG5-1] # RefSeq XP_016876850 XM_017021361.1. [Q8WUG5-1] # RefSeq XP_016876851 XM_017021362.1. [Q8WUG5-2] # SEQUENCE CAUTION Sequence=CAC01119.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAC17762.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family. {ECO 0000305}. # SUBCELLULAR LOCATION S22AH_HUMAN Cell membrane {ECO 0000269|PubMed 17253959}; Multi-pass membrane protein {ECO 0000269|PubMed 17253959}. Vacuole membrane {ECO 0000269|PubMed 17253959}; Multi-pass membrane protein {ECO 0000269|PubMed 17253959}. Note=Upon LCN2-binding, it is internalized. # SUPFAM SSF103473 SSF103473 # TCDB 2.A.1.19 the major facilitator superfamily (mfs) # TISSUE SPECIFICITY S22AH_HUMAN Expressed in brain. # UCSC uc001wjl human. [Q8WUG5-1] # eggNOG ENOG410IRI7 Eukaryota # eggNOG ENOG411129W LUCA BLAST swissprot:S22AH_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S22AH_HUMAN BioCyc ZFISH:ENSG00000092096-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000092096-MONOMER COXPRESdb 51310 http://coxpresdb.jp/data/gene/51310.shtml CleanEx HS_SLC22A17 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC22A17 DOI 10.1016/j.cell.2005.10.027 http://dx.doi.org/10.1016/j.cell.2005.10.027 DOI 10.1038/emboj.2009.35 http://dx.doi.org/10.1038/emboj.2009.35 DOI 10.1038/nature01348 http://dx.doi.org/10.1038/nature01348 DOI 10.1042/BJ20060836 http://dx.doi.org/10.1042/BJ20060836 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AJ243122 http://www.ebi.ac.uk/ena/data/view/AJ243122 EMBL AJ243653 http://www.ebi.ac.uk/ena/data/view/AJ243653 EMBL AL049829 http://www.ebi.ac.uk/ena/data/view/AL049829 EMBL BC020565 http://www.ebi.ac.uk/ena/data/view/BC020565 EMBL BC090870 http://www.ebi.ac.uk/ena/data/view/BC090870 EMBL BC111015 http://www.ebi.ac.uk/ena/data/view/BC111015 EMBL BX161416 http://www.ebi.ac.uk/ena/data/view/BX161416 EMBL DQ658848 http://www.ebi.ac.uk/ena/data/view/DQ658848 Ensembl ENST00000206544 http://www.ensembl.org/id/ENST00000206544 Ensembl ENST00000397267 http://www.ensembl.org/id/ENST00000397267 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005774 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005774 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0031301 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031301 GO_function GO:0004888 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004888 GO_function GO:0008514 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008514 GO_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GO_process GO:0006879 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006879 GO_process GO:0015891 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015891 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GeneCards SLC22A17 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC22A17 GeneID 51310 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=51310 GeneTree ENSGT00390000014377 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000014377 HGNC HGNC:23095 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:23095 HOVERGEN HBG031124 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG031124&db=HOVERGEN HPA HPA002728 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA002728 InParanoid Q8WUG5 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8WUG5 IntAct Q8WUG5 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q8WUG5* InterPro IPR005828 http://www.ebi.ac.uk/interpro/entry/IPR005828 InterPro IPR005829 http://www.ebi.ac.uk/interpro/entry/IPR005829 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 51310 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=51310 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:51310 http://www.genome.jp/dbget-bin/www_bget?hsa:51310 KEGG_Orthology KO:K08213 http://www.genome.jp/dbget-bin/www_bget?KO:K08213 MIM 611461 http://www.ncbi.nlm.nih.gov/omim/611461 OMA TRLELCE http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=TRLELCE OrthoDB EOG091G07Y4 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G07Y4 PROSITE PS00216 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00216 PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PSORT swissprot:S22AH_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S22AH_HUMAN PSORT-B swissprot:S22AH_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S22AH_HUMAN PSORT2 swissprot:S22AH_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S22AH_HUMAN Pfam PF00083 http://pfam.xfam.org/family/PF00083 PharmGKB PA134879149 http://www.pharmgkb.org/do/serve?objId=PA134879149&objCls=Gene Phobius swissprot:S22AH_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S22AH_HUMAN PhylomeDB Q8WUG5 http://phylomedb.org/?seqid=Q8WUG5 ProteinModelPortal Q8WUG5 http://www.proteinmodelportal.org/query/uniprot/Q8WUG5 PubMed 12508121 http://www.ncbi.nlm.nih.gov/pubmed/12508121 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16377569 http://www.ncbi.nlm.nih.gov/pubmed/16377569 PubMed 17253959 http://www.ncbi.nlm.nih.gov/pubmed/17253959 PubMed 19229297 http://www.ncbi.nlm.nih.gov/pubmed/19229297 Reactome R-HSA-917937 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-917937 RefSeq NP_001275979 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001275979 RefSeq NP_057693 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_057693 RefSeq NP_065105 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_065105 RefSeq XP_005267804 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005267804 RefSeq XP_016876850 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016876850 RefSeq XP_016876851 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016876851 STRING 9606.ENSP00000206544 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000206544&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.1.19 http://www.tcdb.org/search/result.php?tc=2.A.1.19 UCSC uc001wjl http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001wjl&org=rat UniGene Hs.373498 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.373498 UniProtKB S22AH_HUMAN http://www.uniprot.org/uniprot/S22AH_HUMAN UniProtKB-AC Q8WUG5 http://www.uniprot.org/uniprot/Q8WUG5 charge swissprot:S22AH_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S22AH_HUMAN eggNOG ENOG410IRI7 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IRI7 eggNOG ENOG411129W http://eggnogapi.embl.de/nog_data/html/tree/ENOG411129W epestfind swissprot:S22AH_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S22AH_HUMAN garnier swissprot:S22AH_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S22AH_HUMAN helixturnhelix swissprot:S22AH_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S22AH_HUMAN hmoment swissprot:S22AH_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S22AH_HUMAN iep swissprot:S22AH_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S22AH_HUMAN inforesidue swissprot:S22AH_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S22AH_HUMAN neXtProt NX_Q8WUG5 http://www.nextprot.org/db/entry/NX_Q8WUG5 octanol swissprot:S22AH_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S22AH_HUMAN pepcoil swissprot:S22AH_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S22AH_HUMAN pepdigest swissprot:S22AH_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S22AH_HUMAN pepinfo swissprot:S22AH_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S22AH_HUMAN pepnet swissprot:S22AH_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S22AH_HUMAN pepstats swissprot:S22AH_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S22AH_HUMAN pepwheel swissprot:S22AH_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S22AH_HUMAN pepwindow swissprot:S22AH_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S22AH_HUMAN sigcleave swissprot:S22AH_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S22AH_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS CNNM4_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q6P4Q7-1; Sequence=Displayed; Name=2; IsoId=Q6P4Q7-2; Sequence=VSP_054271, VSP_054272; Note=No experimental confirmation available.; # AltName CNNM4_HUMAN Ancient conserved domain-containing protein 4 # AltName CNNM4_HUMAN Cyclin-M4 # BioGrid 117711 6 # CCDS CCDS2024 -. [Q6P4Q7-1] # ChiTaRS CNNM4 human # DISEASE CNNM4_HUMAN Jalili syndrome (JALIS) [MIM 217080] A syndrome characterized by the association of cone-rod dystrophy and amelogenesis imperfecta. {ECO 0000269|PubMed 19200525, ECO 0000269|PubMed 19200527}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000377075 ENSP00000366275; ENSG00000158158. [Q6P4Q7-1] # FUNCTION CNNM4_HUMAN Probable metal transporter. The interaction with the metal ion chaperone COX11 suggests that it may play a role in sensory neuron functions (By similarity). May play a role in biomineralization and retinal function. {ECO 0000250, ECO 0000269|PubMed 19200525, ECO 0000269|PubMed 19200527}. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0016323 basolateral plasma membrane; IEA:Ensembl. # GO_function GO:0015081 sodium ion transmembrane transporter activity; IEA:Ensembl. # GO_function GO:0015095 magnesium ion transmembrane transporter activity; IEA:Ensembl. # GO_process GO:0007601 visual perception; IEA:UniProtKB-KW. # GO_process GO:0010960 magnesium ion homeostasis; IEA:Ensembl. # GO_process GO:0015693 magnesium ion transport; IEA:Ensembl. # GO_process GO:0050896 response to stimulus; IEA:UniProtKB-KW. # GO_process GO:0070166 enamel mineralization; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0050877 neurological system process # Gene3D 2.60.120.10 -; 2. # Genevisible Q6P4Q7 HS # HGNC HGNC:105 CNNM4 # InterPro IPR000595 cNMP-bd_dom # InterPro IPR000644 CBS_dom # InterPro IPR002550 DUF21 # InterPro IPR014710 RmlC-like_jellyroll # InterPro IPR018490 cNMP-bd-like # KEGG_Brite ko02000 Transporters # KEGG_Disease H01015 [Developmental disorder] Jalili syndrome # MIM 217080 phenotype # MIM 607805 gene # MISCELLANEOUS CNNM4_HUMAN Shares weak sequence similarity with the cyclin family, explaining its name. However, it has no cyclin-like function in vivo. # Organism CNNM4_HUMAN Homo sapiens (Human) # Orphanet 1873 Jalili syndrome # PDB 4IY3 X-ray; 3.60 A; A/B/C/D=359-511 # PROSITE PS50042 CNMP_BINDING_3 # PROSITE PS51371 CBS; 2 # Pfam PF00571 CBS # Pfam PF01595 DUF21 # Proteomes UP000005640 Chromosome 2 # RecName CNNM4_HUMAN Metal transporter CNNM4 # RefSeq NP_064569 NM_020184.3. [Q6P4Q7-1] # SEQUENCE CAUTION Sequence=AAF86370.1; Type=Frameshift; Positions=108, 120; Evidence={ECO:0000305}; Sequence=AAY14963.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; Sequence=BAB14266.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; # SIMILARITY Belongs to the ACDP family. {ECO 0000305}. # SIMILARITY Contains 1 DUF21 domain. {ECO 0000305}. # SIMILARITY Contains 2 CBS domains. {ECO:0000255|PROSITE- ProRule PRU00703}. # SUBCELLULAR LOCATION CNNM4_HUMAN Cell membrane {ECO 0000269|PubMed 22399287}; Multi-pass membrane protein {ECO 0000269|PubMed 22399287}. # SUBUNIT Interacts with COX11. {ECO:0000269|PubMed 15840172}. # SUPFAM SSF51206 SSF51206; 2 # TCDB 9.A.40.3 the hlyc/corc (hcc) family # TISSUE SPECIFICITY Widely expressed. Highly expressed in heart. {ECO:0000269|PubMed 12657465}. # UCSC uc002swx human. [Q6P4Q7-1] # eggNOG COG1253 LUCA # eggNOG KOG2118 Eukaryota BLAST swissprot:CNNM4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CNNM4_HUMAN COXPRESdb 26504 http://coxpresdb.jp/data/gene/26504.shtml CleanEx HS_CNNM4 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CNNM4 DOI 10.1016/S0378-1119(02)01210-6 http://dx.doi.org/10.1016/S0378-1119(02)01210-6 DOI 10.1016/j.ajhg.2009.01.006 http://dx.doi.org/10.1016/j.ajhg.2009.01.006 DOI 10.1016/j.ajhg.2009.01.009 http://dx.doi.org/10.1016/j.ajhg.2009.01.009 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.M112.342204 http://dx.doi.org/10.1074/jbc.M112.342204 DOI 10.1093/dnares/7.4.271 http://dx.doi.org/10.1093/dnares/7.4.271 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1133427 http://dx.doi.org/10.1126/science.1133427 DOI 10.1186/1744-8069-1-15 http://dx.doi.org/10.1186/1744-8069-1-15 EMBL AB046812 http://www.ebi.ac.uk/ena/data/view/AB046812 EMBL AC092636 http://www.ebi.ac.uk/ena/data/view/AC092636 EMBL AF202777 http://www.ebi.ac.uk/ena/data/view/AF202777 EMBL AK022833 http://www.ebi.ac.uk/ena/data/view/AK022833 EMBL AK293915 http://www.ebi.ac.uk/ena/data/view/AK293915 EMBL BC063295 http://www.ebi.ac.uk/ena/data/view/BC063295 EMBL FJ619522 http://www.ebi.ac.uk/ena/data/view/FJ619522 EMBL FJ619523 http://www.ebi.ac.uk/ena/data/view/FJ619523 EMBL FJ619524 http://www.ebi.ac.uk/ena/data/view/FJ619524 Ensembl ENST00000377075 http://www.ensembl.org/id/ENST00000377075 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0016323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016323 GO_function GO:0015081 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015081 GO_function GO:0015095 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015095 GO_process GO:0007601 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007601 GO_process GO:0010960 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010960 GO_process GO:0015693 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015693 GO_process GO:0050896 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050896 GO_process GO:0070166 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070166 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 Gene3D 2.60.120.10 http://www.cathdb.info/version/latest/superfamily/2.60.120.10 GeneCards CNNM4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CNNM4 GeneID 26504 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=26504 GeneTree ENSGT00390000002383 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000002383 H-InvDB HIX0002279 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0002279 H-InvDB HIX0161875 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0161875 HGNC HGNC:105 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:105 HOGENOM HOG000231947 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231947&db=HOGENOM6 HOVERGEN HBG074775 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG074775&db=HOVERGEN HPA HPA017732 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA017732 InParanoid Q6P4Q7 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q6P4Q7 IntAct Q6P4Q7 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q6P4Q7* InterPro IPR000595 http://www.ebi.ac.uk/interpro/entry/IPR000595 InterPro IPR000644 http://www.ebi.ac.uk/interpro/entry/IPR000644 InterPro IPR002550 http://www.ebi.ac.uk/interpro/entry/IPR002550 InterPro IPR014710 http://www.ebi.ac.uk/interpro/entry/IPR014710 InterPro IPR018490 http://www.ebi.ac.uk/interpro/entry/IPR018490 Jabion 26504 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=26504 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Disease H01015 http://www.genome.jp/dbget-bin/www_bget?H01015 KEGG_Gene hsa:26504 http://www.genome.jp/dbget-bin/www_bget?hsa:26504 KEGG_Orthology KO:K16302 http://www.genome.jp/dbget-bin/www_bget?KO:K16302 MIM 217080 http://www.ncbi.nlm.nih.gov/omim/217080 MIM 607805 http://www.ncbi.nlm.nih.gov/omim/607805 OMA WLKWTDK http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=WLKWTDK Orphanet 1873 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1873 OrthoDB EOG091G02YS http://cegg.unige.ch/orthodb/results?searchtext=EOG091G02YS PDB 4IY3 http://www.ebi.ac.uk/pdbe-srv/view/entry/4IY3 PDBsum 4IY3 http://www.ebi.ac.uk/pdbsum/4IY3 PROSITE PS50042 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50042 PROSITE PS51371 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51371 PSORT swissprot:CNNM4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CNNM4_HUMAN PSORT-B swissprot:CNNM4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CNNM4_HUMAN PSORT2 swissprot:CNNM4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CNNM4_HUMAN Pfam PF00571 http://pfam.xfam.org/family/PF00571 Pfam PF01595 http://pfam.xfam.org/family/PF01595 PharmGKB PA26671 http://www.pharmgkb.org/do/serve?objId=PA26671&objCls=Gene Phobius swissprot:CNNM4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CNNM4_HUMAN PhylomeDB Q6P4Q7 http://phylomedb.org/?seqid=Q6P4Q7 ProteinModelPortal Q6P4Q7 http://www.proteinmodelportal.org/query/uniprot/Q6P4Q7 PubMed 10997877 http://www.ncbi.nlm.nih.gov/pubmed/10997877 PubMed 12657465 http://www.ncbi.nlm.nih.gov/pubmed/12657465 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 PubMed 15840172 http://www.ncbi.nlm.nih.gov/pubmed/15840172 PubMed 16959974 http://www.ncbi.nlm.nih.gov/pubmed/16959974 PubMed 19200525 http://www.ncbi.nlm.nih.gov/pubmed/19200525 PubMed 19200527 http://www.ncbi.nlm.nih.gov/pubmed/19200527 PubMed 22399287 http://www.ncbi.nlm.nih.gov/pubmed/22399287 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 RefSeq NP_064569 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_064569 SMR Q6P4Q7 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q6P4Q7 STRING 9606.ENSP00000366275 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000366275&targetmode=cogs SUPFAM SSF51206 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF51206 TCDB 9.A.40.3 http://www.tcdb.org/search/result.php?tc=9.A.40.3 UCSC uc002swx http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002swx&org=rat UniGene Hs.175043 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.175043 UniProtKB CNNM4_HUMAN http://www.uniprot.org/uniprot/CNNM4_HUMAN UniProtKB-AC Q6P4Q7 http://www.uniprot.org/uniprot/Q6P4Q7 charge swissprot:CNNM4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CNNM4_HUMAN eggNOG COG1253 http://eggnogapi.embl.de/nog_data/html/tree/COG1253 eggNOG KOG2118 http://eggnogapi.embl.de/nog_data/html/tree/KOG2118 epestfind swissprot:CNNM4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CNNM4_HUMAN garnier swissprot:CNNM4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CNNM4_HUMAN helixturnhelix swissprot:CNNM4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CNNM4_HUMAN hmoment swissprot:CNNM4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CNNM4_HUMAN iep swissprot:CNNM4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CNNM4_HUMAN inforesidue swissprot:CNNM4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CNNM4_HUMAN neXtProt NX_Q6P4Q7 http://www.nextprot.org/db/entry/NX_Q6P4Q7 octanol swissprot:CNNM4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CNNM4_HUMAN pepcoil swissprot:CNNM4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CNNM4_HUMAN pepdigest swissprot:CNNM4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CNNM4_HUMAN pepinfo swissprot:CNNM4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CNNM4_HUMAN pepnet swissprot:CNNM4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CNNM4_HUMAN pepstats swissprot:CNNM4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CNNM4_HUMAN pepwheel swissprot:CNNM4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CNNM4_HUMAN pepwindow swissprot:CNNM4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CNNM4_HUMAN sigcleave swissprot:CNNM4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CNNM4_HUMAN ## Database ID URL or Descriptions # AltName SC5A3_HUMAN Sodium/myo-inositol transporter 1 # AltName SC5A3_HUMAN Solute carrier family 5 member 3 # ChiTaRS SLC5A3 human # Ensembl ENST00000381151 ENSP00000370543; ENSG00000198743 # FUNCTION SC5A3_HUMAN Prevents intracellular accumulation of high concentrations of myo-inositol (an osmolyte) that result in impairment of cellular function. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0016021 integral component of membrane; TAS:ProtInc. # GO_function SC5A3_HUMAN GO 0005367 myo-inositol sodium symporter activity; TAS Reactome. # GO_process GO:0006020 inositol metabolic process; IBA:GO_Central. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0007422 peripheral nervous system development; IEA:Ensembl. # GO_process GO:0043576 regulation of respiratory gaseous exchange; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0005975 carbohydrate metabolic process # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0044281 small molecule metabolic process # GOslim_process GO:0048856 anatomical structure development # Genevisible P53794 HS # HGNC HGNC:11038 SLC5A3 # IntAct P53794 4 # InterPro IPR001734 Na/solute_symporter # InterPro IPR018212 Na/solute_symporter_CS # MIM 600444 gene # Organism SC5A3_HUMAN Homo sapiens (Human) # PANTHER PTHR11819 PTHR11819 # PIR A56851 A56851 # PROSITE PS00456 NA_SOLUT_SYMP_1 # PROSITE PS00457 NA_SOLUT_SYMP_2 # PROSITE PS50283 NA_SOLUT_SYMP_3 # Pfam PF00474 SSF # Proteomes UP000005640 Chromosome 21 # Reactome R-HSA-189200 Hexose transport # Reactome R-HSA-428808 Na+-dependent glucose transporters # Reactome R-HSA-429593 Inositol transporters # RecName SC5A3_HUMAN Sodium/myo-inositol cotransporter # SIMILARITY Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family. {ECO 0000305}. # SUBCELLULAR LOCATION SC5A3_HUMAN Membrane; Multi-pass membrane protein. # TCDB 2.A.21.3.14:the solute sodium symporter (sss) family # TIGRFAMs TIGR00813 sss # UCSC uc002yto human # eggNOG COG4146 LUCA # eggNOG ENOG410IP49 Eukaryota BLAST swissprot:SC5A3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SC5A3_HUMAN BioCyc ZFISH:G66-33037-MONOMER http://biocyc.org/getid?id=ZFISH:G66-33037-MONOMER DOI 10.1006/geno.1997.5055 http://dx.doi.org/10.1006/geno.1997.5055 DOI 10.1016/0888-7543(95)80052-N http://dx.doi.org/10.1016/0888-7543(95)80052-N DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/35012518 http://dx.doi.org/10.1038/35012518 EMBL AF027153 http://www.ebi.ac.uk/ena/data/view/AF027153 EMBL AP001719 http://www.ebi.ac.uk/ena/data/view/AP001719 EMBL L38500 http://www.ebi.ac.uk/ena/data/view/L38500 Ensembl ENST00000381151 http://www.ensembl.org/id/ENST00000381151 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005367 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005367 GO_process GO:0006020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006020 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0007422 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007422 GO_process GO:0043576 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043576 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0005975 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005975 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GeneCards SLC5A3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC5A3 HGNC HGNC:11038 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11038 HOGENOM HOG000025422 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000025422&db=HOGENOM6 HOVERGEN HBG052859 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052859&db=HOVERGEN HPA HPA029791 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA029791 InParanoid P53794 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P53794 IntAct P53794 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P53794* InterPro IPR001734 http://www.ebi.ac.uk/interpro/entry/IPR001734 InterPro IPR018212 http://www.ebi.ac.uk/interpro/entry/IPR018212 MIM 600444 http://www.ncbi.nlm.nih.gov/omim/600444 MINT MINT-4657416 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-4657416 OrthoDB EOG091G077U http://cegg.unige.ch/orthodb/results?searchtext=EOG091G077U PANTHER PTHR11819 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11819 PROSITE PS00456 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00456 PROSITE PS00457 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00457 PROSITE PS50283 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50283 PSORT swissprot:SC5A3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SC5A3_HUMAN PSORT-B swissprot:SC5A3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SC5A3_HUMAN PSORT2 swissprot:SC5A3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SC5A3_HUMAN Pfam PF00474 http://pfam.xfam.org/family/PF00474 PharmGKB PA35903 http://www.pharmgkb.org/do/serve?objId=PA35903&objCls=Gene Phobius swissprot:SC5A3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SC5A3_HUMAN PhylomeDB P53794 http://phylomedb.org/?seqid=P53794 ProteinModelPortal P53794 http://www.proteinmodelportal.org/query/uniprot/P53794 PubMed 10830953 http://www.ncbi.nlm.nih.gov/pubmed/10830953 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 7789985 http://www.ncbi.nlm.nih.gov/pubmed/7789985 PubMed 9441750 http://www.ncbi.nlm.nih.gov/pubmed/9441750 Reactome R-HSA-189200 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-189200 Reactome R-HSA-428808 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-428808 Reactome R-HSA-429593 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-429593 STRING 9606.ENSP00000370543 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000370543&targetmode=cogs TCDB 2.A.21.3.14 http://www.tcdb.org/search/result.php?tc=2.A.21.3.14 TIGRFAMs TIGR00813 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00813 UCSC uc002yto http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002yto&org=rat UniGene Hs.302742 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.302742 UniProtKB SC5A3_HUMAN http://www.uniprot.org/uniprot/SC5A3_HUMAN UniProtKB-AC P53794 http://www.uniprot.org/uniprot/P53794 charge swissprot:SC5A3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SC5A3_HUMAN eggNOG COG4146 http://eggnogapi.embl.de/nog_data/html/tree/COG4146 eggNOG ENOG410IP49 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IP49 epestfind swissprot:SC5A3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SC5A3_HUMAN garnier swissprot:SC5A3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SC5A3_HUMAN helixturnhelix swissprot:SC5A3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SC5A3_HUMAN hmoment swissprot:SC5A3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SC5A3_HUMAN iep swissprot:SC5A3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SC5A3_HUMAN inforesidue swissprot:SC5A3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SC5A3_HUMAN neXtProt NX_P53794 http://www.nextprot.org/db/entry/NX_P53794 octanol swissprot:SC5A3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SC5A3_HUMAN pepcoil swissprot:SC5A3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SC5A3_HUMAN pepdigest swissprot:SC5A3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SC5A3_HUMAN pepinfo swissprot:SC5A3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SC5A3_HUMAN pepnet swissprot:SC5A3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SC5A3_HUMAN pepstats swissprot:SC5A3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SC5A3_HUMAN pepwheel swissprot:SC5A3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SC5A3_HUMAN pepwindow swissprot:SC5A3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SC5A3_HUMAN sigcleave swissprot:SC5A3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SC5A3_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S38A2_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96QD8-1; Sequence=Displayed; Name=2; IsoId=Q96QD8-2; Sequence=VSP_029553, VSP_029554; # AltName S38A2_HUMAN Amino acid transporter A2 # AltName S38A2_HUMAN Protein 40-9-1 # AltName S38A2_HUMAN Solute carrier family 38 member 2 # AltName S38A2_HUMAN System A amino acid transporter 2 # AltName S38A2_HUMAN System A transporter 1 # AltName S38A2_HUMAN System N amino acid transporter 2 # BIOPHYSICOCHEMICAL PROPERTIES Kinetic parameters KM=0.39 mM for 2-methylamino-isobutyric acid (MeAIB) (at pH 8.0); # BioGrid 119943 26 # CCDS CCDS76551 -. [Q96QD8-2] # CCDS CCDS8749 -. [Q96QD8-1] # ChiTaRS SLC38A2 human # ENZYME REGULATION Inhibited by N-methyl-D-glucamine and probably choline. {ECO:0000269|PubMed 10930503}. # Ensembl ENST00000256689 ENSP00000256689; ENSG00000134294. [Q96QD8-1] # Ensembl ENST00000612232 ENSP00000482873; ENSG00000134294. [Q96QD8-2] # ExpressionAtlas Q96QD8 baseline and differential # FUNCTION S38A2_HUMAN Functions as a sodium-dependent amino acid transporter. Mediates the saturable, pH-sensitive and electrogenic cotransport of neutral amino acids and sodium ions with a stoichiometry of 1 1. May function in the transport of amino acids at the blood- brain barrier and in the supply of maternal nutrients to the fetus through the placenta. {ECO 0000269|PubMed 10930503, ECO 0000269|PubMed 15922329}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0005903 brush border; IEA:Ensembl. # GO_component GO:0030424 axon; IEA:Ensembl. # GO_component GO:0030425 dendrite; IEA:Ensembl. # GO_component GO:0042383 sarcolemma; IEA:Ensembl. # GO_component GO:0043025 neuronal cell body; IEA:Ensembl. # GO_function GO:0015171 amino acid transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015293 symporter activity; IEA:UniProtKB-KW. # GO_process GO:0003333 amino acid transmembrane transport; IBA:GO_Central. # GO_process GO:0006814 sodium ion transport; IEA:UniProtKB-KW. # GO_process GO:0006865 amino acid transport; TAS:Reactome. # GO_process GO:0007565 female pregnancy; IEA:Ensembl. # GO_process GO:0014047 glutamate secretion; TAS:Reactome. # GO_process GO:0021987 cerebral cortex development; IEA:Ensembl. # GO_process GO:0031460 glycine betaine transport; IEA:Ensembl. # GO_process GO:0032328 alanine transport; IEA:Ensembl. # GO_process GO:0034198 cellular response to amino acid starvation; IEA:Ensembl. # GO_process GO:0071260 cellular response to mechanical stimulus; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0008150 biological_process # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0055085 transmembrane transport # Genevisible Q96QD8 HS # HGNC HGNC:13448 SLC38A2 # INDUCTION S38A2_HUMAN Up-regulated upon hypertonic conditions and amino acid deprivation. {ECO 0000269|PubMed 14623874, ECO 0000269|PubMed 15922329, ECO 0000269|PubMed 16621798}. # INTERACTION S38A2_HUMAN Q99942 RNF5; NbExp=3; IntAct=EBI-723083, EBI-348482; # IntAct Q96QD8 25 # InterPro IPR013057 AA_transpt_TM # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02001 Solute carrier family # KEGG_Pathway ko04724 Glutamatergic synapse # KEGG_Pathway ko04727 GABAergic synapse # KEGG_Pathway ko04974 Protein digestion and absorption # MIM 605180 gene # MISCELLANEOUS S38A2_HUMAN Depletion of SCL38A2 by siRNA prevents the recovery of cells from hypertonic stress. # Organism S38A2_HUMAN Homo sapiens (Human) # PTM S38A2_HUMAN Polyubiquitination by NEDD4L regulates the degradation and the activity of SLC38A2. {ECO 0000250}. # Pfam PF01490 Aa_trans # Proteomes UP000005640 Chromosome 12 # Reactome R-HSA-210500 Glutamate Neurotransmitter Release Cycle # Reactome R-HSA-352230 Amino acid transport across the plasma membrane # RecName S38A2_HUMAN Sodium-coupled neutral amino acid transporter 2 # RefSeq NP_001294865 NM_001307936.1. [Q96QD8-2] # RefSeq NP_061849 NM_018976.4. [Q96QD8-1] # SEQUENCE CAUTION Sequence=BAD18765.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the amino acid/polyamine transporter 2 family. {ECO 0000305}. # SUBCELLULAR LOCATION S38A2_HUMAN Cell membrane {ECO 0000269|PubMed 15561425, ECO 0000269|PubMed 16616430}; Multi-pass membrane protein {ECO 0000269|PubMed 15561425, ECO 0000269|PubMed 16616430}. Note=Insulin promotes recruitment to the plasma membrane from a pool localized in the trans-Golgi network or endosomes (By similarity). Enriched in the somatodendritic compartment of neurons, it is also detected at the axonal shaft but excluded from the nerve terminal. {ECO 0000250}. # TCDB 2.A.18.6 the amino acid/auxin permease (aaap) family # TISSUE SPECIFICITY S38A2_HUMAN Ubiquitously expressed. Widely expressed in the central nervous system with higher concentrations in caudal regions. Expressed by glutamatergic and GABAergic neurons together with astrocytes and other non-neuronal cells in the cerebral cortex (at protein level). {ECO 0000269|PubMed 10930503, ECO 0000269|PubMed 15561425, ECO 0000269|PubMed 16616430}. # UCSC uc001rpg human. [Q96QD8-1] # eggNOG COG0814 LUCA # eggNOG KOG1305 Eukaryota BLAST swissprot:S38A2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S38A2_HUMAN COXPRESdb 54407 http://coxpresdb.jp/data/gene/54407.shtml CleanEx HS_SAT2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SAT2 CleanEx HS_SLC38A2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC38A2 DOI 10.1016/S0005-2736(00)00252-2 http://dx.doi.org/10.1016/S0005-2736(00)00252-2 DOI 10.1016/j.febslet.2005.05.002 http://dx.doi.org/10.1016/j.febslet.2005.05.002 DOI 10.1016/j.neuroscience.2004.09.023 http://dx.doi.org/10.1016/j.neuroscience.2004.09.023 DOI 10.1016/j.neuroscience.2006.02.042 http://dx.doi.org/10.1016/j.neuroscience.2006.02.042 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1073/pnas.1210303109 http://dx.doi.org/10.1073/pnas.1210303109 DOI 10.1074/jbc.M310483200 http://dx.doi.org/10.1074/jbc.M310483200 DOI 10.1074/jbc.M600341200 http://dx.doi.org/10.1074/jbc.M600341200 DOI 10.1093/dnares/7.1.65 http://dx.doi.org/10.1093/dnares/7.1.65 DOI 10.1093/dnares/9.3.99 http://dx.doi.org/10.1093/dnares/9.3.99 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/scisignal.2000007 http://dx.doi.org/10.1126/scisignal.2000007 DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AB037803 http://www.ebi.ac.uk/ena/data/view/AB037803 EMBL AF259799 http://www.ebi.ac.uk/ena/data/view/AF259799 EMBL AF298897 http://www.ebi.ac.uk/ena/data/view/AF298897 EMBL AJ344099 http://www.ebi.ac.uk/ena/data/view/AJ344099 EMBL AK001700 http://www.ebi.ac.uk/ena/data/view/AK001700 EMBL AK172784 http://www.ebi.ac.uk/ena/data/view/AK172784 EMBL BC040342 http://www.ebi.ac.uk/ena/data/view/BC040342 EMBL CH471111 http://www.ebi.ac.uk/ena/data/view/CH471111 EMBL CH471111 http://www.ebi.ac.uk/ena/data/view/CH471111 EMBL CR457267 http://www.ebi.ac.uk/ena/data/view/CR457267 Ensembl ENST00000256689 http://www.ensembl.org/id/ENST00000256689 Ensembl ENST00000612232 http://www.ensembl.org/id/ENST00000612232 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0005903 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005903 GO_component GO:0030424 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030424 GO_component GO:0030425 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030425 GO_component GO:0042383 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042383 GO_component GO:0043025 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043025 GO_function GO:0015171 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015171 GO_function GO:0015293 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015293 GO_process GO:0003333 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003333 GO_process GO:0006814 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006814 GO_process GO:0006865 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006865 GO_process GO:0007565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007565 GO_process GO:0014047 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014047 GO_process GO:0021987 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021987 GO_process GO:0031460 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031460 GO_process GO:0032328 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032328 GO_process GO:0034198 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034198 GO_process GO:0071260 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071260 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC38A2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC38A2 GeneID 54407 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=54407 GeneTree ENSGT00760000119147 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119147 HGNC HGNC:13448 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:13448 HOGENOM HOG000013088 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000013088&db=HOGENOM6 HOVERGEN HBG059571 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG059571&db=HOVERGEN HPA HPA035180 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA035180 InParanoid Q96QD8 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q96QD8 IntAct Q96QD8 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q96QD8* InterPro IPR013057 http://www.ebi.ac.uk/interpro/entry/IPR013057 Jabion 54407 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=54407 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:54407 http://www.genome.jp/dbget-bin/www_bget?hsa:54407 KEGG_Orthology KO:K14207 http://www.genome.jp/dbget-bin/www_bget?KO:K14207 KEGG_Pathway ko04724 http://www.genome.jp/kegg-bin/show_pathway?ko04724 KEGG_Pathway ko04727 http://www.genome.jp/kegg-bin/show_pathway?ko04727 KEGG_Pathway ko04974 http://www.genome.jp/kegg-bin/show_pathway?ko04974 MIM 605180 http://www.ncbi.nlm.nih.gov/omim/605180 MINT MINT-1398587 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1398587 OMA ITHLLCA http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=ITHLLCA OrthoDB EOG091G0GP8 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0GP8 PSORT swissprot:S38A2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S38A2_HUMAN PSORT-B swissprot:S38A2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S38A2_HUMAN PSORT2 swissprot:S38A2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S38A2_HUMAN Pfam PF01490 http://pfam.xfam.org/family/PF01490 PharmGKB PA37773 http://www.pharmgkb.org/do/serve?objId=PA37773&objCls=Gene Phobius swissprot:S38A2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S38A2_HUMAN PhylomeDB Q96QD8 http://phylomedb.org/?seqid=Q96QD8 ProteinModelPortal Q96QD8 http://www.proteinmodelportal.org/query/uniprot/Q96QD8 PubMed 10718198 http://www.ncbi.nlm.nih.gov/pubmed/10718198 PubMed 10930503 http://www.ncbi.nlm.nih.gov/pubmed/10930503 PubMed 12168954 http://www.ncbi.nlm.nih.gov/pubmed/12168954 PubMed 14623874 http://www.ncbi.nlm.nih.gov/pubmed/14623874 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15561425 http://www.ncbi.nlm.nih.gov/pubmed/15561425 PubMed 15922329 http://www.ncbi.nlm.nih.gov/pubmed/15922329 PubMed 16616430 http://www.ncbi.nlm.nih.gov/pubmed/16616430 PubMed 16621798 http://www.ncbi.nlm.nih.gov/pubmed/16621798 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 19690332 http://www.ncbi.nlm.nih.gov/pubmed/19690332 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 22814378 http://www.ncbi.nlm.nih.gov/pubmed/22814378 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 Reactome R-HSA-210500 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-210500 Reactome R-HSA-352230 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-352230 RefSeq NP_001294865 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001294865 RefSeq NP_061849 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_061849 STRING 9606.ENSP00000256689 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000256689&targetmode=cogs TCDB 2.A.18.6 http://www.tcdb.org/search/result.php?tc=2.A.18.6 UCSC uc001rpg http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001rpg&org=rat UniGene Hs.221847 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.221847 UniProtKB S38A2_HUMAN http://www.uniprot.org/uniprot/S38A2_HUMAN UniProtKB-AC Q96QD8 http://www.uniprot.org/uniprot/Q96QD8 charge swissprot:S38A2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S38A2_HUMAN eggNOG COG0814 http://eggnogapi.embl.de/nog_data/html/tree/COG0814 eggNOG KOG1305 http://eggnogapi.embl.de/nog_data/html/tree/KOG1305 epestfind swissprot:S38A2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S38A2_HUMAN garnier swissprot:S38A2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S38A2_HUMAN helixturnhelix swissprot:S38A2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S38A2_HUMAN hmoment swissprot:S38A2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S38A2_HUMAN iep swissprot:S38A2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S38A2_HUMAN inforesidue swissprot:S38A2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S38A2_HUMAN neXtProt NX_Q96QD8 http://www.nextprot.org/db/entry/NX_Q96QD8 octanol swissprot:S38A2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S38A2_HUMAN pepcoil swissprot:S38A2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S38A2_HUMAN pepdigest swissprot:S38A2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S38A2_HUMAN pepinfo swissprot:S38A2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S38A2_HUMAN pepnet swissprot:S38A2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S38A2_HUMAN pepstats swissprot:S38A2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S38A2_HUMAN pepwheel swissprot:S38A2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S38A2_HUMAN pepwindow swissprot:S38A2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S38A2_HUMAN sigcleave swissprot:S38A2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S38A2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS CA2D1_HUMAN Event=Alternative splicing; Named isoforms=5; Name=1; Synonyms=Alpha-2a; IsoId=P54289-1; Sequence=Displayed; Name=2; Synonyms=Alpha-2b; IsoId=P54289-2; Sequence=VSP_038348, VSP_038350; Name=3; Synonyms=Alpha-2c; IsoId=P54289-3; Sequence=VSP_038349, VSP_038350; Name=4; Synonyms=Alpha-2d; IsoId=P54289-4; Sequence=VSP_038349; Name=5; Synonyms=Alpha-2e; IsoId=P54289-5; Sequence=VSP_038348; # AltName CA2D1_HUMAN Voltage-gated calcium channel subunit alpha-2/delta-1 # AltName CA2D1_HUMAN Voltage-gated calcium channel subunit alpha-2/delta-1 # BioGrid 107235 38 # CCDS CCDS5598 -. [P54289-2] # ChiTaRS CACNA2D1 human # DOMAIN CA2D1_HUMAN The MIDAS-like motif in the VWFA domain binds divalent metal cations and is required to promote trafficking of the alpha- 1 (CACNA1) subunit to the plasma membrane by an integrin-like switch. {ECO 0000250}. # DrugBank DB00270 Isradipine # DrugBank DB00308 Ibutilide # DrugBank DB00381 Amlodipine # DrugBank DB00401 Nisoldipine # DrugBank DB00421 Spironolactone # DrugBank DB00622 Nicardipine # DrugBank DB00653 Magnesium Sulfate # DrugBank DB00996 Gabapentin # DrugBank DB01023 Felodipine # DrugBank DB01054 Nitrendipine # DrugBank DB01115 Nifedipine # DrugBank DB04838 Cyclandelate # DrugBank DB06712 Nilvadipine # Ensembl ENST00000356253 ENSP00000348589; ENSG00000153956. [P54289-1] # Ensembl ENST00000356860 ENSP00000349320; ENSG00000153956. [P54289-2] # ExpressionAtlas P54289 baseline and differential # FUNCTION CA2D1_HUMAN The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel. Plays an important role in excitation-contraction coupling (By similarity). {ECO 0000250}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005891 voltage-gated calcium channel complex; IDA:UniProtKB. # GO_component GO:0016529 sarcoplasmic reticulum; IEA:Ensembl. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_component GO:1990454 L-type voltage-gated calcium channel complex; IDA:BHF-UCL. # GO_function GO:0005245 voltage-gated calcium channel activity; IDA:BHF-UCL. # GO_function GO:0046872 metal ion binding; IEA:UniProtKB-KW. # GO_process GO:0006816 calcium ion transport; IDA:UniProtKB. # GO_process GO:0051924 regulation of calcium ion transport; IDA:BHF-UCL. # GO_process GO:0060307 regulation of ventricular cardiac muscle cell membrane repolarization; IMP:BHF-UCL. # GO_process GO:0060402 calcium ion transport into cytosol; ISS:BHF-UCL. # GO_process GO:0061337 cardiac conduction; TAS:Reactome. # GO_process GO:0061577 calcium ion transmembrane transport via high voltage-gated calcium channel; ISS:BHF-UCL. # GO_process GO:0086002 cardiac muscle cell action potential involved in contraction; IMP:BHF-UCL. # GO_process GO:0086012 membrane depolarization during cardiac muscle cell action potential; IEA:GOC. # GO_process GO:0086091 regulation of heart rate by cardiac conduction; IMP:BHF-UCL. # GO_process GO:0098903 regulation of membrane repolarization during action potential; ISS:BHF-UCL. # GO_process GO:1901843 positive regulation of high voltage-gated calcium channel activity; ISS:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 3.40.50.410 -; 1. # Genevisible P54289 HS # HGNC HGNC:1399 CACNA2D1 # IntAct P54289 8 # InterPro IPR002035 VWF_A # InterPro IPR013608 VWA_N # InterPro IPR013680 VDCC_a2/dsu # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04010 MAPK signaling pathway # KEGG_Pathway ko04260 Cardiac muscle contraction # KEGG_Pathway ko05410 Hypertrophic cardiomyopathy (HCM) # KEGG_Pathway ko05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC) # KEGG_Pathway ko05414 Dilated cardiomyopathy # MIM 114204 gene # MISCELLANEOUS CA2D1_HUMAN Binds gabapentin, an antiepileptic drug. # Organism CA2D1_HUMAN Homo sapiens (Human) # Orphanet 130 Brugada syndrome # Orphanet 51083 Familial short QT syndrome # PIR JH0565 JH0565 # PROSITE PS50234 VWFA # PTM CA2D1_HUMAN Proteolytically processed into subunits alpha-2-1 and delta-1 that are disulfide-linked. {ECO 0000250}. # Pfam PF00092 VWA # Pfam PF08399 VWA_N # Pfam PF08473 VGCC_alpha2 # Proteomes UP000005640 Chromosome 7 # Reactome R-HSA-5576892 Phase 0 - rapid depolarisation # Reactome R-HSA-5576893 Phase 2 - plateau phase # Reactome R-HSA-5576894 Phase 1 - inactivation of fast Na+ channels # RecName CA2D1_HUMAN Voltage-dependent calcium channel subunit alpha-2-1 # RecName CA2D1_HUMAN Voltage-dependent calcium channel subunit alpha-2-1 # RecName CA2D1_HUMAN Voltage-dependent calcium channel subunit alpha-2/delta-1 # RecName CA2D1_HUMAN Voltage-dependent calcium channel subunit delta-1 # RefSeq NP_000713 NM_000722.3. [P54289-2] # RefSeq XP_005250627 XM_005250570.2. [P54289-1] # RefSeq XP_005250629 XM_005250572.2. [P54289-3] # RefSeq XP_005250630 XM_005250573.2. [P54289-5] # RefSeq XP_005250631 XM_005250574.2. [P54289-4] # SIMILARITY Belongs to the calcium channel subunit alpha-2/delta family. {ECO 0000305}. # SIMILARITY Contains 1 VWFA domain. {ECO:0000255|PROSITE- ProRule PRU00219}. # SIMILARITY Contains 1 cache domain. {ECO 0000305}. # SMART SM00327 VWA # SUBCELLULAR LOCATION CA2D1_HUMAN Membrane {ECO 0000305}; Single-pass type I membrane protein {ECO 0000305}. # SUBUNIT CA2D1_HUMAN Dimer formed of alpha-2-1 and delta-1 chains; disulfide- linked. Voltage-dependent calcium channels are multisubunit complexes, consisting of alpha-1 (CACNA1), alpha-2 (CACNA2D), beta (CACNB) and delta (CACNA2D) subunits in a 1 1 1 1 ratio (By similarity). {ECO 0000250}. # SUPFAM SSF53300 SSF53300 # TCDB 8.A.18.1 the ca(2+) channel auxiliary subunit Alpha2Delta types 1-4 (cca-Alpha2Delta) family # TISSUE SPECIFICITY CA2D1_HUMAN Isoform 1 is expressed in skeletal muscle. Isoform 2 is expressed in the central nervous system. Isoform 2, isoform 4 and isoform 5 are expressed in neuroblastoma cells. Isoform 3, isoform 4 and isoform 5 are expressed in the aorta. {ECO 0000269|PubMed 1309651, ECO 0000269|PubMed 8107964}. # UCSC uc003uhr human. [P54289-1] # eggNOG ENOG410XPDX LUCA # eggNOG KOG2353 Eukaryota BLAST swissprot:CA2D1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CA2D1_HUMAN BioCyc ZFISH:ENSG00000153956-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000153956-MONOMER COXPRESdb 781 http://coxpresdb.jp/data/gene/781.shtml CleanEx HS_CACNA2D1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CACNA2D1 DOI 10.1016/0028-3908(93)90004-M http://dx.doi.org/10.1016/0028-3908(93)90004-M DOI 10.1016/0896-6273(92)90109-Q http://dx.doi.org/10.1016/0896-6273(92)90109-Q DOI 10.1016/j.ceca.2011.10.002 http://dx.doi.org/10.1016/j.ceca.2011.10.002 DOI 10.1021/pr0502065 http://dx.doi.org/10.1021/pr0502065 DOI 10.1021/pr8008012 http://dx.doi.org/10.1021/pr8008012 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DrugBank DB00270 http://www.drugbank.ca/drugs/DB00270 DrugBank DB00308 http://www.drugbank.ca/drugs/DB00308 DrugBank DB00381 http://www.drugbank.ca/drugs/DB00381 DrugBank DB00401 http://www.drugbank.ca/drugs/DB00401 DrugBank DB00421 http://www.drugbank.ca/drugs/DB00421 DrugBank DB00622 http://www.drugbank.ca/drugs/DB00622 DrugBank DB00653 http://www.drugbank.ca/drugs/DB00653 DrugBank DB00996 http://www.drugbank.ca/drugs/DB00996 DrugBank DB01023 http://www.drugbank.ca/drugs/DB01023 DrugBank DB01054 http://www.drugbank.ca/drugs/DB01054 DrugBank DB01115 http://www.drugbank.ca/drugs/DB01115 DrugBank DB04838 http://www.drugbank.ca/drugs/DB04838 DrugBank DB06712 http://www.drugbank.ca/drugs/DB06712 EMBL BC117468 http://www.ebi.ac.uk/ena/data/view/BC117468 EMBL BC117470 http://www.ebi.ac.uk/ena/data/view/BC117470 EMBL CH471091 http://www.ebi.ac.uk/ena/data/view/CH471091 EMBL M76559 http://www.ebi.ac.uk/ena/data/view/M76559 Ensembl ENST00000356253 http://www.ensembl.org/id/ENST00000356253 Ensembl ENST00000356860 http://www.ensembl.org/id/ENST00000356860 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005891 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005891 GO_component GO:0016529 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016529 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_component GO:1990454 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1990454 GO_function GO:0005245 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005245 GO_function GO:0046872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046872 GO_process GO:0006816 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006816 GO_process GO:0051924 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051924 GO_process GO:0060307 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060307 GO_process GO:0060402 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060402 GO_process GO:0061337 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061337 GO_process GO:0061577 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061577 GO_process GO:0086002 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086002 GO_process GO:0086012 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086012 GO_process GO:0086091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086091 GO_process GO:0098903 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0098903 GO_process GO:1901843 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1901843 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 3.40.50.410 http://www.cathdb.info/version/latest/superfamily/3.40.50.410 GeneCards CACNA2D1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CACNA2D1 GeneID 781 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=781 GeneTree ENSGT00530000062904 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000062904 HGNC HGNC:1399 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:1399 HOVERGEN HBG057779 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG057779&db=HOVERGEN HPA HPA008213 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA008213 HPA HPA008621 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA008621 InParanoid P54289 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P54289 IntAct P54289 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P54289* InterPro IPR002035 http://www.ebi.ac.uk/interpro/entry/IPR002035 InterPro IPR013608 http://www.ebi.ac.uk/interpro/entry/IPR013608 InterPro IPR013680 http://www.ebi.ac.uk/interpro/entry/IPR013680 Jabion 781 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=781 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:781 http://www.genome.jp/dbget-bin/www_bget?hsa:781 KEGG_Orthology KO:K04858 http://www.genome.jp/dbget-bin/www_bget?KO:K04858 KEGG_Pathway ko04010 http://www.genome.jp/kegg-bin/show_pathway?ko04010 KEGG_Pathway ko04260 http://www.genome.jp/kegg-bin/show_pathway?ko04260 KEGG_Pathway ko05410 http://www.genome.jp/kegg-bin/show_pathway?ko05410 KEGG_Pathway ko05412 http://www.genome.jp/kegg-bin/show_pathway?ko05412 KEGG_Pathway ko05414 http://www.genome.jp/kegg-bin/show_pathway?ko05414 MIM 114204 http://www.ncbi.nlm.nih.gov/omim/114204 OMA DDYTNQI http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=DDYTNQI Orphanet 130 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=130 Orphanet 51083 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=51083 OrthoDB EOG091G00UY http://cegg.unige.ch/orthodb/results?searchtext=EOG091G00UY PROSITE PS50234 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50234 PSORT swissprot:CA2D1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CA2D1_HUMAN PSORT-B swissprot:CA2D1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CA2D1_HUMAN PSORT2 swissprot:CA2D1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CA2D1_HUMAN Pfam PF00092 http://pfam.xfam.org/family/PF00092 Pfam PF08399 http://pfam.xfam.org/family/PF08399 Pfam PF08473 http://pfam.xfam.org/family/PF08473 PharmGKB PA86 http://www.pharmgkb.org/do/serve?objId=PA86&objCls=Gene Phobius swissprot:CA2D1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CA2D1_HUMAN PhylomeDB P54289 http://phylomedb.org/?seqid=P54289 ProteinModelPortal P54289 http://www.proteinmodelportal.org/query/uniprot/P54289 PubMed 1309651 http://www.ncbi.nlm.nih.gov/pubmed/1309651 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16335952 http://www.ncbi.nlm.nih.gov/pubmed/16335952 PubMed 19159218 http://www.ncbi.nlm.nih.gov/pubmed/19159218 PubMed 22054663 http://www.ncbi.nlm.nih.gov/pubmed/22054663 PubMed 8107964 http://www.ncbi.nlm.nih.gov/pubmed/8107964 Reactome R-HSA-5576892 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576892 Reactome R-HSA-5576893 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576893 Reactome R-HSA-5576894 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576894 RefSeq NP_000713 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000713 RefSeq XP_005250627 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005250627 RefSeq XP_005250629 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005250629 RefSeq XP_005250630 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005250630 RefSeq XP_005250631 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005250631 SMART SM00327 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00327 STRING 9606.ENSP00000349320 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000349320&targetmode=cogs SUPFAM SSF53300 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF53300 TCDB 8.A.18.1 http://www.tcdb.org/search/result.php?tc=8.A.18.1 UCSC uc003uhr http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003uhr&org=rat UniGene Hs.282151 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.282151 UniGene Hs.592625 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.592625 UniGene Hs.743228 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.743228 UniProtKB CA2D1_HUMAN http://www.uniprot.org/uniprot/CA2D1_HUMAN UniProtKB-AC P54289 http://www.uniprot.org/uniprot/P54289 charge swissprot:CA2D1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CA2D1_HUMAN eggNOG ENOG410XPDX http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XPDX eggNOG KOG2353 http://eggnogapi.embl.de/nog_data/html/tree/KOG2353 epestfind swissprot:CA2D1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CA2D1_HUMAN garnier swissprot:CA2D1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CA2D1_HUMAN helixturnhelix swissprot:CA2D1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CA2D1_HUMAN hmoment swissprot:CA2D1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CA2D1_HUMAN iep swissprot:CA2D1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CA2D1_HUMAN inforesidue swissprot:CA2D1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CA2D1_HUMAN neXtProt NX_P54289 http://www.nextprot.org/db/entry/NX_P54289 octanol swissprot:CA2D1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CA2D1_HUMAN pepcoil swissprot:CA2D1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CA2D1_HUMAN pepdigest swissprot:CA2D1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CA2D1_HUMAN pepinfo swissprot:CA2D1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CA2D1_HUMAN pepnet swissprot:CA2D1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CA2D1_HUMAN pepstats swissprot:CA2D1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CA2D1_HUMAN pepwheel swissprot:CA2D1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CA2D1_HUMAN pepwindow swissprot:CA2D1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CA2D1_HUMAN sigcleave swissprot:CA2D1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CA2D1_HUMAN ## Database ID URL or Descriptions # AltName AT5G3_HUMAN ATP synthase lipid-binding protein # AltName AT5G3_HUMAN ATP synthase proteolipid P3 # AltName AT5G3_HUMAN ATP synthase proton-transporting mitochondrial F(0) complex subunit C3 # AltName AT5G3_HUMAN ATPase protein 9 # AltName AT5G3_HUMAN ATPase subunit c # BioGrid 107003 9 # ChiTaRS ATP5G3 human # Ensembl ENST00000284727 ENSP00000284727; ENSG00000154518 # Ensembl ENST00000392541 ENSP00000376324; ENSG00000154518 # Ensembl ENST00000409194 ENSP00000387317; ENSG00000154518 # FUNCTION AT5G3_HUMAN Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(0) domain. A homomeric c-ring of probably 10 subunits is part of the complex rotary element. # GO_component GO:0000276 mitochondrial proton-transporting ATP synthase complex, coupling factor F(o); IBA:GO_Central. # GO_component GO:0005741 mitochondrial outer membrane; TAS:Reactome. # GO_component GO:0005753 mitochondrial proton-transporting ATP synthase complex; TAS:ProtInc. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0005215 transporter activity; NAS:ProtInc. # GO_function GO:0008289 lipid binding; IEA:UniProtKB-KW. # GO_function GO:0046933 proton-transporting ATP synthase activity, rotational mechanism; IBA:GO_Central. # GO_process GO:0006754 ATP biosynthetic process; TAS:Reactome. # GO_process GO:0015986 ATP synthesis coupled proton transport; IBA:GO_Central. # GO_process GO:0015991 ATP hydrolysis coupled proton transport; IEA:InterPro. # GO_process GO:0042776 mitochondrial ATP synthesis coupled proton transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0008289 lipid binding # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0044281 small molecule metabolic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.20.20.10 -; 1. # Genevisible P48201 HS # HAMAP MF_01396 ATP_synth_c_bact # HGNC HGNC:843 ATP5G3 # InterPro IPR000454 ATP_synth_F0_csu # InterPro IPR002379 ATPase_proteolipid_c-like_dom # InterPro IPR020537 ATP_synth_F0_csu_DDCD_BS # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Brite ko01000 Enzymes # KEGG_Pathway ko00190 Oxidative phosphorylation # KEGG_Pathway ko05010 Alzheimer's disease # KEGG_Pathway ko05012 Parkinson's disease # KEGG_Pathway ko05016 Huntington's disease # MIM 602736 gene # MISCELLANEOUS AT5G3_HUMAN There are three genes which encode the mitochondrial ATP synthase proteolipid and they specify precursors with different import sequences but identical mature proteins. Is the major protein stored in the storage bodies of animals or humans affected with ceroid lipofuscinosis (Batten disease). # Organism AT5G3_HUMAN Homo sapiens (Human) # PIR I38612 I38612 # PRINTS PR00124 ATPASEC # PROSITE PS00605 ATPASE_C # Pfam PF00137 ATP-synt_C # Proteomes UP000005640 Chromosome 2 # Reactome R-HSA-163210 Formation of ATP by chemiosmotic coupling # RecName AT5G3_HUMAN ATP synthase F(0) complex subunit C3, mitochondrial # RefSeq NP_001002258 NM_001002258.4 # RefSeq NP_001680 NM_001689.4 # SIMILARITY Belongs to the ATPase C chain family. {ECO 0000305}. # SUBCELLULAR LOCATION AT5G3_HUMAN Mitochondrion membrane; Multi-pass membrane protein. # SUBUNIT F-type ATPases have 2 components, CF(1) - the catalytic core - and CF(0) - the membrane proton channel. CF(1) has five subunits: alpha(3), beta(3), gamma(1), delta(1), epsilon(1). CF(0) has three main subunits a, b and c. # SUPFAM SSF81333 SSF81333 # UCSC uc002ujz human # eggNOG COG0636 LUCA # eggNOG KOG3025 Eukaryota BLAST swissprot:AT5G3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:AT5G3_HUMAN BioCyc ZFISH:ENSG00000154518-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000154518-MONOMER COG COG0636 http://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=COG0636 COXPRESdb 518 http://coxpresdb.jp/data/gene/518.shtml CleanEx HS_ATP5G3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ATP5G3 DOI 10.1006/geno.1994.1631 http://dx.doi.org/10.1006/geno.1994.1631 DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AC096649 http://www.ebi.ac.uk/ena/data/view/AC096649 EMBL AK311999 http://www.ebi.ac.uk/ena/data/view/AK311999 EMBL BC106881 http://www.ebi.ac.uk/ena/data/view/BC106881 EMBL CH471058 http://www.ebi.ac.uk/ena/data/view/CH471058 EMBL CH471058 http://www.ebi.ac.uk/ena/data/view/CH471058 EMBL U09813 http://www.ebi.ac.uk/ena/data/view/U09813 Ensembl ENST00000284727 http://www.ensembl.org/id/ENST00000284727 Ensembl ENST00000392541 http://www.ensembl.org/id/ENST00000392541 Ensembl ENST00000409194 http://www.ensembl.org/id/ENST00000409194 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000276 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000276 GO_component GO:0005741 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005741 GO_component GO:0005753 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005753 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005215 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005215 GO_function GO:0008289 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008289 GO_function GO:0046933 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046933 GO_process GO:0006754 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006754 GO_process GO:0015986 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015986 GO_process GO:0015991 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015991 GO_process GO:0042776 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042776 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0008289 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008289 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.20.20.10 http://www.cathdb.info/version/latest/superfamily/1.20.20.10 GeneCards ATP5G3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ATP5G3 GeneID 518 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=518 GeneTree ENSGT00390000006210 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000006210 HAMAP MF_01396 http://hamap.expasy.org/unirule/MF_01396 HGNC HGNC:843 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:843 HOGENOM HOG000235246 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000235246&db=HOGENOM6 HOVERGEN HBG050605 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050605&db=HOVERGEN InParanoid P48201 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P48201 IntAct P48201 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P48201* InterPro IPR000454 http://www.ebi.ac.uk/interpro/entry/IPR000454 InterPro IPR002379 http://www.ebi.ac.uk/interpro/entry/IPR002379 InterPro IPR020537 http://www.ebi.ac.uk/interpro/entry/IPR020537 Jabion 518 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=518 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00002 http://www.genome.jp/dbget-bin/www_bget?ko00002 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Gene hsa:518 http://www.genome.jp/dbget-bin/www_bget?hsa:518 KEGG_Orthology KO:K02128 http://www.genome.jp/dbget-bin/www_bget?KO:K02128 KEGG_Pathway ko00190 http://www.genome.jp/kegg-bin/show_pathway?ko00190 KEGG_Pathway ko05010 http://www.genome.jp/kegg-bin/show_pathway?ko05010 KEGG_Pathway ko05012 http://www.genome.jp/kegg-bin/show_pathway?ko05012 KEGG_Pathway ko05016 http://www.genome.jp/kegg-bin/show_pathway?ko05016 MIM 602736 http://www.ncbi.nlm.nih.gov/omim/602736 MINT MINT-1036155 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1036155 OMA CKMFACA http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=CKMFACA OrthoDB EOG091G13J1 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G13J1 PRINTS PR00124 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00124 PROSITE PS00605 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00605 PSORT swissprot:AT5G3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:AT5G3_HUMAN PSORT-B swissprot:AT5G3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:AT5G3_HUMAN PSORT2 swissprot:AT5G3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:AT5G3_HUMAN Pfam PF00137 http://pfam.xfam.org/family/PF00137 PharmGKB PA25133 http://www.pharmgkb.org/do/serve?objId=PA25133&objCls=Gene Phobius swissprot:AT5G3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:AT5G3_HUMAN PhylomeDB P48201 http://phylomedb.org/?seqid=P48201 ProteinModelPortal P48201 http://www.proteinmodelportal.org/query/uniprot/P48201 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 PubMed 7698763 http://www.ncbi.nlm.nih.gov/pubmed/7698763 Reactome R-HSA-163210 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-163210 RefSeq NP_001002258 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001002258 RefSeq NP_001680 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001680 STRING 9606.ENSP00000284727 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000284727&targetmode=cogs STRING COG0636 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=COG0636&targetmode=cogs SUPFAM SSF81333 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81333 UCSC uc002ujz http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002ujz&org=rat UniGene Hs.429 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.429 UniProtKB AT5G3_HUMAN http://www.uniprot.org/uniprot/AT5G3_HUMAN UniProtKB-AC P48201 http://www.uniprot.org/uniprot/P48201 charge swissprot:AT5G3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:AT5G3_HUMAN eggNOG COG0636 http://eggnogapi.embl.de/nog_data/html/tree/COG0636 eggNOG KOG3025 http://eggnogapi.embl.de/nog_data/html/tree/KOG3025 epestfind swissprot:AT5G3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:AT5G3_HUMAN garnier swissprot:AT5G3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:AT5G3_HUMAN helixturnhelix swissprot:AT5G3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:AT5G3_HUMAN hmoment swissprot:AT5G3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:AT5G3_HUMAN iep swissprot:AT5G3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:AT5G3_HUMAN inforesidue swissprot:AT5G3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:AT5G3_HUMAN neXtProt NX_P48201 http://www.nextprot.org/db/entry/NX_P48201 octanol swissprot:AT5G3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:AT5G3_HUMAN pepcoil swissprot:AT5G3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:AT5G3_HUMAN pepdigest swissprot:AT5G3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:AT5G3_HUMAN pepinfo swissprot:AT5G3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:AT5G3_HUMAN pepnet swissprot:AT5G3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:AT5G3_HUMAN pepstats swissprot:AT5G3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:AT5G3_HUMAN pepwheel swissprot:AT5G3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:AT5G3_HUMAN pepwindow swissprot:AT5G3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:AT5G3_HUMAN sigcleave swissprot:AT5G3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:AT5G3_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S29A2_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; Synonyms=Long; IsoId=Q14542-1; Sequence=Displayed; Name=2; Synonyms=Short, HNP36; IsoId=Q14542-2; Sequence=VSP_040728, VSP_040729; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=3; IsoId=Q14542-3; Sequence=VSP_040730, VSP_040731; # AltName S29A2_HUMAN 36 kDa nucleolar protein HNP36 # AltName S29A2_HUMAN Delayed-early response protein 12 # AltName S29A2_HUMAN Equilibrative nitrobenzylmercaptopurine riboside-insensitive nucleoside transporter # AltName S29A2_HUMAN Hydrophobic nucleolar protein, 36 kDa # AltName S29A2_HUMAN Nucleoside transporter, ei-type # AltName S29A2_HUMAN Solute carrier family 29 member 2 # BIOPHYSICOCHEMICAL PROPERTIES S29A2_HUMAN Kinetic parameters KM=0.2 mM for uridine {ECO 0000269|PubMed 12527552, ECO 0000269|PubMed 9396714}; KM=0.75 mM for adenosine {ECO 0000269|PubMed 12527552, ECO 0000269|PubMed 9396714}; Note=Vmax for adenosine uptake is about the same for SLC29A1 and SLC29A2.; # BioGrid 109419 2 # CCDS CCDS8137 -. [Q14542-1] # DrugBank DB00441 Gemcitabine # DrugBank DB00495 Zidovudine # DrugBank DB00898 Ethanol # DrugBank DB00900 Didanosine # DrugBank DB00943 Zalcitabine # DrugBank DB01033 Mercaptopurine # Ensembl ENST00000357440 ENSP00000350024; ENSG00000174669. [Q14542-1] # Ensembl ENST00000540386 ENSP00000444870; ENSG00000174669. [Q14542-3] # Ensembl ENST00000541567 ENSP00000442116; ENSG00000174669. [Q14542-2] # Ensembl ENST00000544554 ENSP00000439456; ENSG00000174669. [Q14542-1] # Ensembl ENST00000546034 ENSP00000440329; ENSG00000174669. [Q14542-1] # ExpressionAtlas Q14542 baseline and differential # FUNCTION S29A2_HUMAN Mediates equilibrative transport of purine, pyrimidine nucleosides and the purine base hypoxanthine. Very less sensitive than SLC29A1 to inhibition by nitrobenzylthioinosine (NBMPR), dipyridamole, dilazep and draflazine. {ECO 0000269|PubMed 9396714}. # GO_component GO:0005730 nucleolus; TAS:ProtInc. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0016323 basolateral plasma membrane; IDA:UniProtKB. # GO_component GO:0031965 nuclear membrane; IEA:UniProtKB-SubCell. # GO_function GO:0005337 nucleoside transmembrane transporter activity; TAS:Reactome. # GO_process GO:0006139 nucleobase-containing compound metabolic process; TAS:ProtInc. # GO_process GO:0008283 cell proliferation; TAS:ProtInc. # GO_process GO:0015858 nucleoside transport; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005730 nucleolus # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008283 cell proliferation # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # Genevisible Q14542 HS # HGNC HGNC:11004 SLC29A2 # INDUCTION S29A2_HUMAN By PDGF/platelet derived growth factor and fibroblast growth factor (FGF). # InterPro IPR002259 Eqnu_transpt # InterPro IPR020846 MFS_dom # InterPro IPR030197 ENT2 # KEGG_Brite ko02001 Solute carrier family # MIM 602110 gene # Organism S29A2_HUMAN Homo sapiens (Human) # PANTHER PTHR10332 PTHR10332; 2 # PANTHER PTHR10332:SF8 PTHR10332:SF8; 2 # PIR JC4196 JC4196 # PIRSF PIRSF016379 ENT # PRINTS PR01130 DERENTRNSPRT # Pfam PF01733 Nucleoside_tran # Proteomes UP000005640 Chromosome 11 # Reactome R-HSA-83936 Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane # RecName S29A2_HUMAN Equilibrative nucleoside transporter 2 # RefSeq NP_001287797 NM_001300868.1. [Q14542-1] # RefSeq NP_001523 NM_001532.2. [Q14542-1] # RefSeq XP_016873121 XM_017017632.1. [Q14542-1] # SEQUENCE CAUTION Sequence=CAA60380.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the SLC29A/ENT transporter (TC 2.A.57) family. {ECO 0000305}. # SUBCELLULAR LOCATION S29A2_HUMAN Basolateral cell membrane {ECO 0000269|PubMed 12527552}; Multi-pass membrane protein {ECO 0000269|PubMed 12527552}. Nucleus membrane {ECO 0000269|PubMed 12527552}; Multi-pass membrane protein {ECO 0000269|PubMed 12527552}. Note=Localized at the basolateral cell membrane in polarized MDCK cells. # SUPFAM SSF103473 SSF103473; 2 # TCDB 2.A.57.1 the equilibrative nucleoside transporter (ent) family # TIGRFAMs TIGR00939 2a57 # TISSUE SPECIFICITY S29A2_HUMAN Expressed in skeletal muscle, liver, lung, placenta, brain, heart, kidney and ovarian tissues. {ECO 0000269|PubMed 12527552, ECO 0000269|PubMed 9396714}. # UCSC uc001oht human. [Q14542-1] # eggNOG ENOG410Y3MT LUCA # eggNOG KOG1479 Eukaryota BLAST swissprot:S29A2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S29A2_HUMAN BioCyc ZFISH:ENSG00000174669-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000174669-MONOMER COXPRESdb 3177 http://coxpresdb.jp/data/gene/3177.shtml CleanEx HS_SLC29A2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC29A2 DOI 10.1006/bbrc.1995.2133 http://dx.doi.org/10.1006/bbrc.1995.2133 DOI 10.1016/S0003-9861(02)00718-X http://dx.doi.org/10.1016/S0003-9861(02)00718-X DOI 10.1021/ac9004309 http://dx.doi.org/10.1021/ac9004309 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature04632 http://dx.doi.org/10.1038/nature04632 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1042/bj3280739 http://dx.doi.org/10.1042/bj3280739 DOI 10.1074/jbc.273.9.5288 http://dx.doi.org/10.1074/jbc.273.9.5288 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1124/dmd.105.006270 http://dx.doi.org/10.1124/dmd.105.006270 DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 DOI 10.1126/scisignal.2001570 http://dx.doi.org/10.1126/scisignal.2001570 DrugBank DB00441 http://www.drugbank.ca/drugs/DB00441 DrugBank DB00495 http://www.drugbank.ca/drugs/DB00495 DrugBank DB00898 http://www.drugbank.ca/drugs/DB00898 DrugBank DB00900 http://www.drugbank.ca/drugs/DB00900 DrugBank DB00943 http://www.drugbank.ca/drugs/DB00943 DrugBank DB01033 http://www.drugbank.ca/drugs/DB01033 EMBL AF029358 http://www.ebi.ac.uk/ena/data/view/AF029358 EMBL AF034102 http://www.ebi.ac.uk/ena/data/view/AF034102 EMBL AF401235 http://www.ebi.ac.uk/ena/data/view/AF401235 EMBL AK057041 http://www.ebi.ac.uk/ena/data/view/AK057041 EMBL AP001107 http://www.ebi.ac.uk/ena/data/view/AP001107 EMBL BC093634 http://www.ebi.ac.uk/ena/data/view/BC093634 EMBL CH471076 http://www.ebi.ac.uk/ena/data/view/CH471076 EMBL CH471076 http://www.ebi.ac.uk/ena/data/view/CH471076 EMBL X86681 http://www.ebi.ac.uk/ena/data/view/X86681 Ensembl ENST00000357440 http://www.ensembl.org/id/ENST00000357440 Ensembl ENST00000540386 http://www.ensembl.org/id/ENST00000540386 Ensembl ENST00000541567 http://www.ensembl.org/id/ENST00000541567 Ensembl ENST00000544554 http://www.ensembl.org/id/ENST00000544554 Ensembl ENST00000546034 http://www.ensembl.org/id/ENST00000546034 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005730 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005730 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016323 GO_component GO:0031965 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031965 GO_function GO:0005337 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005337 GO_process GO:0006139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006139 GO_process GO:0008283 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008283 GO_process GO:0015858 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015858 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005730 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005730 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008283 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008283 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GeneCards SLC29A2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC29A2 GeneID 3177 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=3177 GeneTree ENSGT00390000002232 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000002232 HGNC HGNC:11004 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11004 HOGENOM HOG000007684 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000007684&db=HOGENOM6 HOVERGEN HBG074626 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG074626&db=HOVERGEN HPA HPA018168 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA018168 InParanoid Q14542 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q14542 IntAct Q14542 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q14542* InterPro IPR002259 http://www.ebi.ac.uk/interpro/entry/IPR002259 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 InterPro IPR030197 http://www.ebi.ac.uk/interpro/entry/IPR030197 Jabion 3177 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=3177 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:3177 http://www.genome.jp/dbget-bin/www_bget?hsa:3177 KEGG_Orthology KO:K15014 http://www.genome.jp/dbget-bin/www_bget?KO:K15014 MIM 602110 http://www.ncbi.nlm.nih.gov/omim/602110 OMA FNIMDCL http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=FNIMDCL OrthoDB EOG091G09WB http://cegg.unige.ch/orthodb/results?searchtext=EOG091G09WB PANTHER PTHR10332 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10332 PANTHER PTHR10332:SF8 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10332:SF8 PRINTS PR01130 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01130 PSORT swissprot:S29A2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S29A2_HUMAN PSORT-B swissprot:S29A2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S29A2_HUMAN PSORT2 swissprot:S29A2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S29A2_HUMAN Pfam PF01733 http://pfam.xfam.org/family/PF01733 PharmGKB PA191 http://www.pharmgkb.org/do/serve?objId=PA191&objCls=Gene Phobius swissprot:S29A2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S29A2_HUMAN PhylomeDB Q14542 http://phylomedb.org/?seqid=Q14542 ProteinModelPortal Q14542 http://www.proteinmodelportal.org/query/uniprot/Q14542 PubMed 12527552 http://www.ncbi.nlm.nih.gov/pubmed/12527552 PubMed 12590919 http://www.ncbi.nlm.nih.gov/pubmed/12590919 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16214850 http://www.ncbi.nlm.nih.gov/pubmed/16214850 PubMed 16554811 http://www.ncbi.nlm.nih.gov/pubmed/16554811 PubMed 19413330 http://www.ncbi.nlm.nih.gov/pubmed/19413330 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 21406692 http://www.ncbi.nlm.nih.gov/pubmed/21406692 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 7639753 http://www.ncbi.nlm.nih.gov/pubmed/7639753 PubMed 9396714 http://www.ncbi.nlm.nih.gov/pubmed/9396714 PubMed 9478986 http://www.ncbi.nlm.nih.gov/pubmed/9478986 Reactome R-HSA-83936 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-83936 RefSeq NP_001287797 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001287797 RefSeq NP_001523 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001523 RefSeq XP_016873121 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016873121 STRING 9606.ENSP00000350024 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000350024&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.57.1 http://www.tcdb.org/search/result.php?tc=2.A.57.1 TIGRFAMs TIGR00939 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00939 UCSC uc001oht http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001oht&org=rat UniGene Hs.569017 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.569017 UniGene Hs.736345 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.736345 UniProtKB S29A2_HUMAN http://www.uniprot.org/uniprot/S29A2_HUMAN UniProtKB-AC Q14542 http://www.uniprot.org/uniprot/Q14542 charge swissprot:S29A2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S29A2_HUMAN eggNOG ENOG410Y3MT http://eggnogapi.embl.de/nog_data/html/tree/ENOG410Y3MT eggNOG KOG1479 http://eggnogapi.embl.de/nog_data/html/tree/KOG1479 epestfind swissprot:S29A2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S29A2_HUMAN garnier swissprot:S29A2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S29A2_HUMAN helixturnhelix swissprot:S29A2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S29A2_HUMAN hmoment swissprot:S29A2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S29A2_HUMAN iep swissprot:S29A2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S29A2_HUMAN inforesidue swissprot:S29A2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S29A2_HUMAN neXtProt NX_Q14542 http://www.nextprot.org/db/entry/NX_Q14542 octanol swissprot:S29A2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S29A2_HUMAN pepcoil swissprot:S29A2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S29A2_HUMAN pepdigest swissprot:S29A2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S29A2_HUMAN pepinfo swissprot:S29A2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S29A2_HUMAN pepnet swissprot:S29A2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S29A2_HUMAN pepstats swissprot:S29A2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S29A2_HUMAN pepwheel swissprot:S29A2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S29A2_HUMAN pepwindow swissprot:S29A2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S29A2_HUMAN sigcleave swissprot:S29A2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S29A2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS ATPG_HUMAN Event=Alternative splicing; Named isoforms=2; Name=Liver; Synonyms=L; IsoId=P36542-1; Sequence=Displayed; Name=Heart; Synonyms=H; IsoId=P36542-2; Sequence=VSP_000439; # AltName ATPG_HUMAN F-ATPase gamma subunit # BioGrid 106997 114 # CCDS CCDS31142 -. [P36542-1] # CCDS CCDS7081 -. [P36542-2] # CDD cd12151 F1-ATPase_gamma # ChiTaRS ATP5C1 human # Ensembl ENST00000335698 ENSP00000338568; ENSG00000165629. [P36542-2] # Ensembl ENST00000356708 ENSP00000349142; ENSG00000165629. [P36542-1] # FUNCTION ATPG_HUMAN Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(1) domain and the central stalk which is part of the complex rotary element. The gamma subunit protrudes into the catalytic domain formed of alpha(3)beta(3). Rotation of the central stalk against the surrounding alpha(3)beta(3) subunits leads to hydrolysis of ATP in three separate catalytic sites on the beta subunits. # GO_component GO:0000275 mitochondrial proton-transporting ATP synthase complex, catalytic core F(1); NAS:UniProtKB. # GO_component GO:0005739 mitochondrion; ISS:UniProtKB. # GO_component GO:0005743 mitochondrial inner membrane; ISS:UniProtKB. # GO_component GO:0005753 mitochondrial proton-transporting ATP synthase complex; IDA:UniProtKB. # GO_component GO:0005759 mitochondrial matrix; TAS:Reactome. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0043209 myelin sheath; IEA:Ensembl. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0022857 transmembrane transporter activity; IC:UniProtKB. # GO_function GO:0044822 poly(A) RNA binding; IDA:UniProtKB. # GO_function GO:0046933 proton-transporting ATP synthase activity, rotational mechanism; IEA:InterPro. # GO_process GO:0006119 oxidative phosphorylation; NAS:UniProtKB. # GO_process GO:0006754 ATP biosynthetic process; NAS:UniProtKB. # GO_process GO:0042776 mitochondrial ATP synthesis coupled proton transport; IC:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005739 mitochondrion # GOslim_component GO:0043226 organelle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003723 RNA binding # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006091 generation of precursor metabolites and energy # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0044281 small molecule metabolic process # GOslim_process GO:0055085 transmembrane transport # Genevisible P36542 HS # HGNC HGNC:833 ATP5C1 # IntAct P36542 47 # InterPro IPR000131 ATP_synth_F1_gsu # InterPro IPR023632 ATP_synth_F1_gsu_CS # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Brite ko01000 Enzymes # KEGG_Pathway ko00190 Oxidative phosphorylation # KEGG_Pathway ko05010 Alzheimer's disease # KEGG_Pathway ko05012 Parkinson's disease # KEGG_Pathway ko05016 Huntington's disease # MIM 108729 gene # Organism ATPG_HUMAN Homo sapiens (Human) # PANTHER PTHR11693 PTHR11693 # PIR A49108 A49108 # PRINTS PR00126 ATPASEGAMMA # PROSITE PS00153 ATPASE_GAMMA # Pfam PF00231 ATP-synt # Proteomes UP000005640 Chromosome 10 # Reactome R-HSA-163210 Formation of ATP by chemiosmotic coupling # RecName ATPG_HUMAN ATP synthase subunit gamma, mitochondrial # RefSeq NP_001001973 NM_001001973.2. [P36542-1] # RefSeq NP_005165 NM_005174.3. [P36542-2] # SIMILARITY Belongs to the ATPase gamma chain family. {ECO 0000305}. # SUBCELLULAR LOCATION ATPG_HUMAN Mitochondrion. Mitochondrion inner membrane {ECO 0000250}; Peripheral membrane protein {ECO 0000250}. # SUBUNIT F-type ATPases have 2 components, CF(1) - the catalytic core - and CF(0) - the membrane proton channel. CF(1) has five subunits: alpha(3), beta(3), gamma(1), delta(1), epsilon(1). CF(0) has three main subunits a, b and c. Component of an ATP synthase complex composed of ATP5F1, ATP5G1, ATP5E, ATP5H, ATP5I, ATP5J, ATP5J2, MT-ATP6, MT-ATP8, ATP5A1, ATP5B, ATP5D, ATP5C1, ATP5O, ATP5L, USMG5 and MP68 (By similarity). {ECO:0000250}. # SUPFAM SSF52943 SSF52943 # TIGRFAMs TIGR01146 ATPsyn_F1gamma # TISSUE SPECIFICITY ATPG_HUMAN Isoform Heart is expressed specifically in the heart and skeletal muscle, which require rapid energy supply. Isoform Liver is expressed in the brain, liver and kidney. Isoform Heart and Isoform Liver are expressed in the skin, intestine, stomach and aorta. # TopDownProteomics P36542-1 -. [P36542-1] # TopDownProteomics P36542-2 -. [P36542-2] # UCSC uc001iju human. [P36542-1] # eggNOG COG0224 LUCA # eggNOG KOG1531 Eukaryota BLAST swissprot:ATPG_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ATPG_HUMAN BioCyc ZFISH:HS09257-MONOMER http://biocyc.org/getid?id=ZFISH:HS09257-MONOMER COG COG0224 http://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=COG0224 COXPRESdb 509 http://coxpresdb.jp/data/gene/509.shtml CleanEx HS_ATP5C1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ATP5C1 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature02462 http://dx.doi.org/10.1038/nature02462 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1175371 http://dx.doi.org/10.1126/science.1175371 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AK292896 http://www.ebi.ac.uk/ena/data/view/AK292896 EMBL AL158044 http://www.ebi.ac.uk/ena/data/view/AL158044 EMBL AL158044 http://www.ebi.ac.uk/ena/data/view/AL158044 EMBL AL158044 http://www.ebi.ac.uk/ena/data/view/AL158044 EMBL AL158044 http://www.ebi.ac.uk/ena/data/view/AL158044 EMBL AL353754 http://www.ebi.ac.uk/ena/data/view/AL353754 EMBL AL353754 http://www.ebi.ac.uk/ena/data/view/AL353754 EMBL AL353754 http://www.ebi.ac.uk/ena/data/view/AL353754 EMBL AL353754 http://www.ebi.ac.uk/ena/data/view/AL353754 EMBL BC000470 http://www.ebi.ac.uk/ena/data/view/BC000470 EMBL BC000931 http://www.ebi.ac.uk/ena/data/view/BC000931 EMBL BC013394 http://www.ebi.ac.uk/ena/data/view/BC013394 EMBL BC016812 http://www.ebi.ac.uk/ena/data/view/BC016812 EMBL BC020824 http://www.ebi.ac.uk/ena/data/view/BC020824 EMBL CH471072 http://www.ebi.ac.uk/ena/data/view/CH471072 EMBL CH471072 http://www.ebi.ac.uk/ena/data/view/CH471072 EMBL CR457403 http://www.ebi.ac.uk/ena/data/view/CR457403 EMBL D16561 http://www.ebi.ac.uk/ena/data/view/D16561 EMBL D16561 http://www.ebi.ac.uk/ena/data/view/D16561 EMBL D16562 http://www.ebi.ac.uk/ena/data/view/D16562 EMBL D16563 http://www.ebi.ac.uk/ena/data/view/D16563 Ensembl ENST00000335698 http://www.ensembl.org/id/ENST00000335698 Ensembl ENST00000356708 http://www.ensembl.org/id/ENST00000356708 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000275 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000275 GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0005753 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005753 GO_component GO:0005759 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005759 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0043209 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043209 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GO_function GO:0044822 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044822 GO_function GO:0046933 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046933 GO_process GO:0006119 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006119 GO_process GO:0006754 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006754 GO_process GO:0042776 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042776 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003723 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003723 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006091 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards ATP5C1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ATP5C1 GeneID 509 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=509 GeneTree ENSGT00390000006837 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000006837 HGNC HGNC:833 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:833 HOGENOM HOG000215911 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000215911&db=HOGENOM6 HOVERGEN HBG000933 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG000933&db=HOVERGEN HPA HPA060949 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA060949 InParanoid P36542 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P36542 IntAct P36542 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P36542* InterPro IPR000131 http://www.ebi.ac.uk/interpro/entry/IPR000131 InterPro IPR023632 http://www.ebi.ac.uk/interpro/entry/IPR023632 Jabion 509 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=509 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00002 http://www.genome.jp/dbget-bin/www_bget?ko00002 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Gene hsa:509 http://www.genome.jp/dbget-bin/www_bget?hsa:509 KEGG_Orthology KO:K02136 http://www.genome.jp/dbget-bin/www_bget?KO:K02136 KEGG_Pathway ko00190 http://www.genome.jp/kegg-bin/show_pathway?ko00190 KEGG_Pathway ko05010 http://www.genome.jp/kegg-bin/show_pathway?ko05010 KEGG_Pathway ko05012 http://www.genome.jp/kegg-bin/show_pathway?ko05012 KEGG_Pathway ko05016 http://www.genome.jp/kegg-bin/show_pathway?ko05016 MIM 108729 http://www.ncbi.nlm.nih.gov/omim/108729 MINT MINT-1378900 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1378900 OMA YQEFALV http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=YQEFALV OrthoDB EOG091G0XX7 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0XX7 PANTHER PTHR11693 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11693 PRINTS PR00126 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00126 PROSITE PS00153 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00153 PSORT swissprot:ATPG_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ATPG_HUMAN PSORT-B swissprot:ATPG_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ATPG_HUMAN PSORT2 swissprot:ATPG_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ATPG_HUMAN Pfam PF00231 http://pfam.xfam.org/family/PF00231 PharmGKB PA25125 http://www.pharmgkb.org/do/serve?objId=PA25125&objCls=Gene Phobius swissprot:ATPG_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ATPG_HUMAN PhylomeDB P36542 http://phylomedb.org/?seqid=P36542 ProteinModelPortal P36542 http://www.proteinmodelportal.org/query/uniprot/P36542 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15164054 http://www.ncbi.nlm.nih.gov/pubmed/15164054 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 19608861 http://www.ncbi.nlm.nih.gov/pubmed/19608861 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 8227057 http://www.ncbi.nlm.nih.gov/pubmed/8227057 Reactome R-HSA-163210 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-163210 RefSeq NP_001001973 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001001973 RefSeq NP_005165 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_005165 STRING 9606.ENSP00000349142 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000349142&targetmode=cogs STRING COG0224 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=COG0224&targetmode=cogs SUPFAM SSF52943 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52943 TIGRFAMs TIGR01146 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01146 UCSC uc001iju http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001iju&org=rat UniGene Hs.271135 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.271135 UniProtKB ATPG_HUMAN http://www.uniprot.org/uniprot/ATPG_HUMAN UniProtKB-AC P36542 http://www.uniprot.org/uniprot/P36542 charge swissprot:ATPG_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ATPG_HUMAN eggNOG COG0224 http://eggnogapi.embl.de/nog_data/html/tree/COG0224 eggNOG KOG1531 http://eggnogapi.embl.de/nog_data/html/tree/KOG1531 epestfind swissprot:ATPG_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ATPG_HUMAN garnier swissprot:ATPG_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ATPG_HUMAN helixturnhelix swissprot:ATPG_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ATPG_HUMAN hmoment swissprot:ATPG_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ATPG_HUMAN iep swissprot:ATPG_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ATPG_HUMAN inforesidue swissprot:ATPG_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ATPG_HUMAN neXtProt NX_P36542 http://www.nextprot.org/db/entry/NX_P36542 octanol swissprot:ATPG_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ATPG_HUMAN pepcoil swissprot:ATPG_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ATPG_HUMAN pepdigest swissprot:ATPG_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ATPG_HUMAN pepinfo swissprot:ATPG_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ATPG_HUMAN pepnet swissprot:ATPG_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ATPG_HUMAN pepstats swissprot:ATPG_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ATPG_HUMAN pepwheel swissprot:ATPG_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ATPG_HUMAN pepwindow swissprot:ATPG_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ATPG_HUMAN sigcleave swissprot:ATPG_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ATPG_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS SL9A1_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P19634-1; Sequence=Displayed; Name=2; IsoId=P19634-2; Sequence=VSP_022101, VSP_022102; Note=No experimental confirmation available.; # AltName SL9A1_HUMAN APNH # AltName SL9A1_HUMAN Na(+)/H(+) antiporter, amiloride-sensitive # AltName SL9A1_HUMAN Na(+)/H(+) exchanger 1 # AltName SL9A1_HUMAN Solute carrier family 9 member 1 # BIOPHYSICOCHEMICAL PROPERTIES pH dependence Fully active at acidic pHs, the antiporter is virtually turned off at neutral pH.; # BioGrid 112438 37 # CAUTION Although PubMed:12809501 report that CHP1 and TESC bind to SLC9A1 at different sites, studies with rat SLC9A1 show that they bind at the same C-terminal site. {ECO 0000305}. # CAUTION Although PubMed:12809501 report that TESC-binding results in a decrease in activity, studies with rat SLC9A1 show that TESC- binding results in the maturation and accumulation of SLC9A1 at the cell surface. {ECO 0000305}. # CAUTION The region between transmembrane regions M4 and M5 and between M6 and M7 (also termed intracellular loops IL2 and IL4, respectively) seem to be localized at least in part in the membrane. The hydrophobic region H10 is proposed to be located within the membrane. {ECO 0000305}. # CCDS CCDS295 -. [P19634-1] # ChiTaRS SLC9A1 human # DISEASE SL9A1_HUMAN Lichtenstein-Knorr syndrome (LIKNS) [MIM 616291] An autosomal recessive neurologic disorder characterized by progressive cerebellar ataxia and severe progressive sensorineural hearing loss. {ECO 0000269|PubMed 25205112}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DrugBank DB00594 Amiloride # Ensembl ENST00000263980 ENSP00000263980; ENSG00000090020. [P19634-1] # Ensembl ENST00000374086 ENSP00000363199; ENSG00000090020. [P19634-2] # ExpressionAtlas P19634 baseline and differential # FUNCTION SL9A1_HUMAN Involved in pH regulation to eliminate acids generated by active metabolism or to counter adverse environmental conditions. Major proton extruding system driven by the inward sodium ion chemical gradient. Plays an important role in signal transduction. {ECO 0000269|PubMed 11350981, ECO 0000269|PubMed 15035633, ECO 0000269|PubMed 8901634}. # GO_component GO:0005654 nucleoplasm; IDA:HPA. # GO_component GO:0005737 cytoplasm; IDA:UniProtKB. # GO_component GO:0005739 mitochondrion; IEA:Ensembl. # GO_component GO:0005783 endoplasmic reticulum; ISS:UniProtKB. # GO_component GO:0005789 endoplasmic reticulum membrane; IEA:UniProtKB-SubCell. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0005887 integral component of plasma membrane; IDA:BHF-UCL. # GO_component GO:0005925 focal adhesion; IDA:UniProtKB. # GO_component GO:0009986 cell surface; IEA:Ensembl. # GO_component GO:0014704 intercalated disc; IEA:Ensembl. # GO_component GO:0016021 integral component of membrane; TAS:UniProtKB. # GO_component GO:0016323 basolateral plasma membrane; IEA:Ensembl. # GO_component GO:0016324 apical plasma membrane; IEA:Ensembl. # GO_component GO:0030027 lamellipodium; TAS:BHF-UCL. # GO_component GO:0030315 T-tubule; IEA:Ensembl. # GO_component GO:0045121 membrane raft; IDA:BHF-UCL. # GO_component GO:0048471 perinuclear region of cytoplasm; IEA:Ensembl. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_component GO:0090533 cation-transporting ATPase complex; IDA:BHF-UCL. # GO_function GO:0005546 phosphatidylinositol-4,5-bisphosphate binding; TAS:BHF-UCL. # GO_function GO:0030346 protein phosphatase 2B binding; IDA:BHF-UCL. # GO_function GO:0030674 protein binding, bridging; TAS:BHF-UCL. # GO_function GO:0032947 protein complex scaffold; TAS:BHF-UCL. # GO_function GO:0048306 calcium-dependent protein binding; IDA:UniProtKB. # GO_function SL9A1_HUMAN GO 0015299 solute proton antiporter activity; TAS UniProtKB. # GO_function SL9A1_HUMAN GO 0015385 sodium proton antiporter activity; IDA UniProtKB. # GO_function SL9A1_HUMAN GO 0015386 potassium proton antiporter activity; IBA GO_Central. # GO_function SL9A1_HUMAN GO 0086040 sodium proton antiporter activity involved in regulation of cardiac muscle cell membrane potential; TAS BHF-UCL. # GO_process GO:0006811 ion transport; TAS:Reactome. # GO_process GO:0006883 cellular sodium ion homeostasis; IDA:BHF-UCL. # GO_process GO:0006885 regulation of pH; IDA:UniProtKB. # GO_process GO:0010447 response to acidic pH; IDA:UniProtKB. # GO_process GO:0010613 positive regulation of cardiac muscle hypertrophy; IMP:BHF-UCL. # GO_process GO:0010882 regulation of cardiac muscle contraction by calcium ion signaling; IMP:BHF-UCL. # GO_process GO:0016049 cell growth; IEA:Ensembl. # GO_process GO:0016477 cell migration; TAS:BHF-UCL. # GO_process GO:0030011 maintenance of cell polarity; TAS:BHF-UCL. # GO_process GO:0030214 hyaluronan catabolic process; TAS:Reactome. # GO_process GO:0030307 positive regulation of cell growth; IEA:Ensembl. # GO_process GO:0032869 cellular response to insulin stimulus; IEA:Ensembl. # GO_process GO:0035794 positive regulation of mitochondrial membrane permeability; IEA:Ensembl. # GO_process GO:0035994 response to muscle stretch; IMP:BHF-UCL. # GO_process GO:0042493 response to drug; IEA:Ensembl. # GO_process GO:0043065 positive regulation of apoptotic process; IEA:Ensembl. # GO_process GO:0043066 negative regulation of apoptotic process; IEA:Ensembl. # GO_process GO:0045760 positive regulation of action potential; IEA:Ensembl. # GO_process GO:0045944 positive regulation of transcription from RNA polymerase II promoter; IDA:BHF-UCL. # GO_process GO:0051259 protein oligomerization; ISS:UniProtKB. # GO_process GO:0051453 regulation of intracellular pH; IDA:UniProtKB. # GO_process GO:0051492 regulation of stress fiber assembly; TAS:BHF-UCL. # GO_process GO:0051533 positive regulation of NFAT protein import into nucleus; IDA:BHF-UCL. # GO_process GO:0051893 regulation of focal adhesion assembly; TAS:BHF-UCL. # GO_process GO:0051930 regulation of sensory perception of pain; IEA:Ensembl. # GO_process GO:0055007 cardiac muscle cell differentiation; IEA:Ensembl. # GO_process GO:0070886 positive regulation of calcineurin-NFAT signaling cascade; IDA:BHF-UCL. # GO_process GO:0070997 neuron death; IEA:Ensembl. # GO_process GO:0071236 cellular response to antibiotic; IEA:Ensembl. # GO_process GO:0071257 cellular response to electrical stimulus; IEA:Ensembl. # GO_process GO:0071260 cellular response to mechanical stimulus; TAS:BHF-UCL. # GO_process GO:0071436 sodium ion export; ISS:UniProtKB. # GO_process GO:0071456 cellular response to hypoxia; IEA:Ensembl. # GO_process GO:0071468 cellular response to acidic pH; ISS:UniProtKB. # GO_process GO:0071805 potassium ion transmembrane transport; IBA:GO_Central. # GO_process GO:0071872 cellular response to epinephrine stimulus; IMP:BHF-UCL. # GO_process GO:0086003 cardiac muscle cell contraction; IEA:Ensembl. # GO_process GO:0086036 regulation of cardiac muscle cell membrane potential; TAS:BHF-UCL. # GO_process GO:0086092 regulation of the force of heart contraction by cardiac conduction; IMP:BHF-UCL. # GO_process GO:0098719 sodium ion import across plasma membrane; IDA:BHF-UCL. # GO_process GO:0098735 positive regulation of the force of heart contraction; IMP:BHF-UCL. # GO_process GO:1902600 hydrogen ion transmembrane transport; IDA:BHF-UCL. # GO_process SL9A1_HUMAN GO 1903281 positive regulation of calcium sodium antiporter activity; IMP BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005654 nucleoplasm # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005739 mitochondrion # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0005198 structural molecule activity # GOslim_function GO:0008289 lipid binding # GOslim_function GO:0019899 enzyme binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0030674 protein binding, bridging # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007005 mitochondrion organization # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0008219 cell death # GOslim_process GO:0009056 catabolic process # GOslim_process GO:0030154 cell differentiation # GOslim_process GO:0040007 growth # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0048870 cell motility # GOslim_process GO:0055085 transmembrane transport # GOslim_process GO:0061024 membrane organization # Genevisible P19634 HS # HGNC HGNC:11071 SLC9A1 # IntAct P19634 13 # InterPro IPR001970 Na/H_exchanger_1 # InterPro IPR004709 NaH_exchanger # InterPro IPR006153 Cation/H_exchanger # InterPro IPR018422 Cation/H_exchanger_CPA1 # InterPro IPR032103 NHE_CaM-bd # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02001 Solute carrier family # KEGG_Pathway ko04260 Cardiac muscle contraction # KEGG_Pathway ko04810 Regulation of actin cytoskeleton # KEGG_Pathway ko04970 Salivary secretion # KEGG_Pathway ko04971 Gastric acid secretion # KEGG_Pathway ko04972 Pancreatic secretion # KEGG_Pathway ko04976 Bile secretion # MIM 107310 gene # MIM 616291 phenotype # MISCELLANEOUS SL9A1_HUMAN Inhibited by amiloride and 5-amino-substituted derivatives and activated in a cooperative fashion by intracellular H(+). In quiescent cells upon growth factor stimulation, the apparent affinity for internal H(+) is increased, resulting in a persistent rise in cytoplasmic pH. # Organism SL9A1_HUMAN Homo sapiens (Human) # PANTHER PTHR10110 PTHR10110 # PANTHER PTHR10110:SF59 PTHR10110:SF59 # PDB 1Y4E NMR; -; A=155-180 # PDB 2BEC X-ray; 2.70 A; B=503-545 # PDB 2E30 NMR; -; B=503-545 # PDB 2HTG NMR; -; A=250-274 # PDB 2KBV NMR; -; A=447-472 # PDB 2L0E NMR; -; A=226-250 # PDB 2MDF NMR; -; A=226-274 # PDB 2YGG X-ray; 2.23 A; A=622-689 # PIR I57487 I57487 # PRINTS PR01084 NAHEXCHNGR # PRINTS PR01085 NAHEXCHNGR1 # PTM SL9A1_HUMAN O-glycosylated. {ECO 0000269|PubMed 8068684}. # PTM SL9A1_HUMAN Ubiquitinated, leading to its degradation by the proteasome. Ubiquitination is reduced by CHP1 (By similarity). {ECO 0000250}. # Pfam PF00999 Na_H_Exchanger # Pfam PF16644 NEXCaM_BD # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-2160916 Hyaluronan uptake and degradation # Reactome R-HSA-425986 Sodium/Proton exchangers # RecName SL9A1_HUMAN Sodium/hydrogen exchanger 1 # RefSeq NP_003038 NM_003047.4. [P19634-1] # SIMILARITY Belongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family. {ECO 0000305}. # SUBCELLULAR LOCATION SL9A1_HUMAN Membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. Cell membrane; Multi-pass membrane protein. Note=Colocalizes with CHP1 at the reticulum endoplasmic (By similarity). Colocalizes with CHP1 and CHP2 at the plasma membrane. {ECO 0000250}. # SUBUNIT SL9A1_HUMAN Oligomer (By similarity). Interacts with calmodulin and TESC. Interacts (via the juxtamembrane region of the cytoplasmic C-terminal domain) with CHP1; the interaction occurs at the plasma membrane in a calcium-dependent manner. Interacts with CHP2; the interaction occurs in a calcium-dependent manner. {ECO 0000250, ECO 0000269|PubMed 11350981, ECO 0000269|PubMed 11696366, ECO 0000269|PubMed 12226101, ECO 0000269|PubMed 12809501, ECO 0000269|PubMed 15035633, ECO 0000269|PubMed 16710297, ECO 0000269|PubMed 17050540, ECO 0000269|PubMed 21392185, ECO 0000269|PubMed 8901634, ECO 0000269|PubMed 8967452}. # TCDB 2.A.36.1.13:the monovalent cation proton antiporter-1 (cpa1) family # TIGRFAMs TIGR00840 b_cpa1 # TISSUE SPECIFICITY SL9A1_HUMAN Kidney and intestine. # UCSC uc001bnm human. [P19634-1] # eggNOG COG0025 LUCA # eggNOG KOG1966 Eukaryota BLAST swissprot:SL9A1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SL9A1_HUMAN BioCyc ZFISH:ENSG00000090020-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000090020-MONOMER COXPRESdb 6548 http://coxpresdb.jp/data/gene/6548.shtml CleanEx HS_SLC9A1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC9A1 DOI 10.1007/BF00936442 http://dx.doi.org/10.1007/BF00936442 DOI 10.1016/0092-8674(89)90901-X http://dx.doi.org/10.1016/0092-8674(89)90901-X DOI 10.1016/S0014-5793(01)02986-6 http://dx.doi.org/10.1016/S0014-5793(01)02986-6 DOI 10.1016/S0165-4608(99)00246-0 http://dx.doi.org/10.1016/S0165-4608(99)00246-0 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/bi00200a030 http://dx.doi.org/10.1021/bi00200a030 DOI 10.1021/bi027143d http://dx.doi.org/10.1021/bi027143d DOI 10.1021/bi0360004 http://dx.doi.org/10.1021/bi0360004 DOI 10.1021/pr0704130 http://dx.doi.org/10.1021/pr0704130 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1038/sj.emboj.7601145 http://dx.doi.org/10.1038/sj.emboj.7601145 DOI 10.1042/BJ20030884 http://dx.doi.org/10.1042/BJ20030884 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1073/pnas.93.22.12631 http://dx.doi.org/10.1073/pnas.93.22.12631 DOI 10.1074/jbc.275.11.7942 http://dx.doi.org/10.1074/jbc.275.11.7942 DOI 10.1074/jbc.M100296200 http://dx.doi.org/10.1074/jbc.M100296200 DOI 10.1074/jbc.M208313200 http://dx.doi.org/10.1074/jbc.M208313200 DOI 10.1074/jbc.M409608200 http://dx.doi.org/10.1074/jbc.M409608200 DOI 10.1074/jbc.M604092200 http://dx.doi.org/10.1074/jbc.M604092200 DOI 10.1093/hmg/ddu461 http://dx.doi.org/10.1093/hmg/ddu461 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1107/S1744309105030836 http://dx.doi.org/10.1107/S1744309105030836 DOI 10.1111/j.1365-2443.2011.01497.x http://dx.doi.org/10.1111/j.1365-2443.2011.01497.x DOI 10.1126/science.1140321 http://dx.doi.org/10.1126/science.1140321 DOI 10.1126/science.2154036 http://dx.doi.org/10.1126/science.2154036 DOI 10.1126/scisignal.2000007 http://dx.doi.org/10.1126/scisignal.2000007 DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 DOI 10.1126/scisignal.2001570 http://dx.doi.org/10.1126/scisignal.2001570 DrugBank DB00594 http://www.drugbank.ca/drugs/DB00594 EMBL AF141350 http://www.ebi.ac.uk/ena/data/view/AF141350 EMBL AF141351 http://www.ebi.ac.uk/ena/data/view/AF141351 EMBL AF141352 http://www.ebi.ac.uk/ena/data/view/AF141352 EMBL AF141353 http://www.ebi.ac.uk/ena/data/view/AF141353 EMBL AF141354 http://www.ebi.ac.uk/ena/data/view/AF141354 EMBL AF141355 http://www.ebi.ac.uk/ena/data/view/AF141355 EMBL AF141356 http://www.ebi.ac.uk/ena/data/view/AF141356 EMBL AF141357 http://www.ebi.ac.uk/ena/data/view/AF141357 EMBL AF141358 http://www.ebi.ac.uk/ena/data/view/AF141358 EMBL AF141359 http://www.ebi.ac.uk/ena/data/view/AF141359 EMBL AF146430 http://www.ebi.ac.uk/ena/data/view/AF146430 EMBL AF146431 http://www.ebi.ac.uk/ena/data/view/AF146431 EMBL AF146432 http://www.ebi.ac.uk/ena/data/view/AF146432 EMBL AF146433 http://www.ebi.ac.uk/ena/data/view/AF146433 EMBL AF146434 http://www.ebi.ac.uk/ena/data/view/AF146434 EMBL AF146435 http://www.ebi.ac.uk/ena/data/view/AF146435 EMBL AF146436 http://www.ebi.ac.uk/ena/data/view/AF146436 EMBL AF146437 http://www.ebi.ac.uk/ena/data/view/AF146437 EMBL AF146438 http://www.ebi.ac.uk/ena/data/view/AF146438 EMBL AF146439 http://www.ebi.ac.uk/ena/data/view/AF146439 EMBL AL137860 http://www.ebi.ac.uk/ena/data/view/AL137860 EMBL AL137860 http://www.ebi.ac.uk/ena/data/view/AL137860 EMBL AL137860 http://www.ebi.ac.uk/ena/data/view/AL137860 EMBL AL137860 http://www.ebi.ac.uk/ena/data/view/AL137860 EMBL AL590640 http://www.ebi.ac.uk/ena/data/view/AL590640 EMBL AL590640 http://www.ebi.ac.uk/ena/data/view/AL590640 EMBL AL590640 http://www.ebi.ac.uk/ena/data/view/AL590640 EMBL AL590640 http://www.ebi.ac.uk/ena/data/view/AL590640 EMBL BC012121 http://www.ebi.ac.uk/ena/data/view/BC012121 EMBL CH471059 http://www.ebi.ac.uk/ena/data/view/CH471059 EMBL CH471059 http://www.ebi.ac.uk/ena/data/view/CH471059 EMBL M81768 http://www.ebi.ac.uk/ena/data/view/M81768 EMBL S68616 http://www.ebi.ac.uk/ena/data/view/S68616 Ensembl ENST00000263980 http://www.ensembl.org/id/ENST00000263980 Ensembl ENST00000374086 http://www.ensembl.org/id/ENST00000374086 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GO_component GO:0005789 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005789 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0005925 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005925 GO_component GO:0009986 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009986 GO_component GO:0014704 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014704 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0016323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016323 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:0030027 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030027 GO_component GO:0030315 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030315 GO_component GO:0045121 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045121 GO_component GO:0048471 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048471 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_component GO:0090533 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090533 GO_function GO:0005546 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005546 GO_function GO:0015299 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015299 GO_function GO:0015385 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015385 GO_function GO:0015386 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015386 GO_function GO:0030346 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030346 GO_function GO:0030674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030674 GO_function GO:0032947 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032947 GO_function GO:0048306 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048306 GO_function GO:0086040 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086040 GO_process GO:0006811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006811 GO_process GO:0006883 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006883 GO_process GO:0006885 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006885 GO_process GO:0010447 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010447 GO_process GO:0010613 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010613 GO_process GO:0010882 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010882 GO_process GO:0016049 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016049 GO_process GO:0016477 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016477 GO_process GO:0030011 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030011 GO_process GO:0030214 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030214 GO_process GO:0030307 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030307 GO_process GO:0032869 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032869 GO_process GO:0035794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035794 GO_process GO:0035994 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035994 GO_process GO:0042493 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042493 GO_process GO:0043065 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043065 GO_process GO:0043066 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043066 GO_process GO:0045760 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045760 GO_process GO:0045944 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045944 GO_process GO:0051259 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051259 GO_process GO:0051453 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051453 GO_process GO:0051492 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051492 GO_process GO:0051533 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051533 GO_process GO:0051893 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051893 GO_process GO:0051930 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051930 GO_process GO:0055007 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055007 GO_process GO:0070886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070886 GO_process GO:0070997 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070997 GO_process GO:0071236 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071236 GO_process GO:0071257 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071257 GO_process GO:0071260 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071260 GO_process GO:0071436 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071436 GO_process GO:0071456 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071456 GO_process GO:0071468 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071468 GO_process GO:0071805 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071805 GO_process GO:0071872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071872 GO_process GO:0086003 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086003 GO_process GO:0086036 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086036 GO_process GO:0086092 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086092 GO_process GO:0098719 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0098719 GO_process GO:0098735 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0098735 GO_process GO:1902600 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902600 GO_process GO:1903281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903281 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0005198 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005198 GOslim_function GO:0008289 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008289 GOslim_function GO:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0030674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030674 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007005 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007005 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0008219 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008219 GOslim_process GO:0009056 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009056 GOslim_process GO:0030154 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030154 GOslim_process GO:0040007 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0040007 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0048870 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048870 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GOslim_process GO:0061024 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061024 GeneCards SLC9A1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC9A1 GeneID 6548 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6548 GeneTree ENSGT00760000119074 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119074 HGNC HGNC:11071 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11071 HOGENOM HOG000247044 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000247044&db=HOGENOM6 HOVERGEN HBG052615 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052615&db=HOVERGEN HPA CAB022371 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB022371 HPA HPA048532 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA048532 HPA HPA052891 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA052891 InParanoid P19634 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P19634 IntAct P19634 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P19634* InterPro IPR001970 http://www.ebi.ac.uk/interpro/entry/IPR001970 InterPro IPR004709 http://www.ebi.ac.uk/interpro/entry/IPR004709 InterPro IPR006153 http://www.ebi.ac.uk/interpro/entry/IPR006153 InterPro IPR018422 http://www.ebi.ac.uk/interpro/entry/IPR018422 InterPro IPR032103 http://www.ebi.ac.uk/interpro/entry/IPR032103 Jabion 6548 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6548 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:6548 http://www.genome.jp/dbget-bin/www_bget?hsa:6548 KEGG_Orthology KO:K05742 http://www.genome.jp/dbget-bin/www_bget?KO:K05742 KEGG_Pathway ko04260 http://www.genome.jp/kegg-bin/show_pathway?ko04260 KEGG_Pathway ko04810 http://www.genome.jp/kegg-bin/show_pathway?ko04810 KEGG_Pathway ko04970 http://www.genome.jp/kegg-bin/show_pathway?ko04970 KEGG_Pathway ko04971 http://www.genome.jp/kegg-bin/show_pathway?ko04971 KEGG_Pathway ko04972 http://www.genome.jp/kegg-bin/show_pathway?ko04972 KEGG_Pathway ko04976 http://www.genome.jp/kegg-bin/show_pathway?ko04976 MIM 107310 http://www.ncbi.nlm.nih.gov/omim/107310 MIM 616291 http://www.ncbi.nlm.nih.gov/omim/616291 MINT MINT-194742 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-194742 OMA KPIMIST http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=KPIMIST OrthoDB EOG091G02Q0 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G02Q0 PANTHER PTHR10110 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10110 PANTHER PTHR10110:SF59 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10110:SF59 PDB 1Y4E http://www.ebi.ac.uk/pdbe-srv/view/entry/1Y4E PDB 2BEC http://www.ebi.ac.uk/pdbe-srv/view/entry/2BEC PDB 2E30 http://www.ebi.ac.uk/pdbe-srv/view/entry/2E30 PDB 2HTG http://www.ebi.ac.uk/pdbe-srv/view/entry/2HTG PDB 2KBV http://www.ebi.ac.uk/pdbe-srv/view/entry/2KBV PDB 2L0E http://www.ebi.ac.uk/pdbe-srv/view/entry/2L0E PDB 2MDF http://www.ebi.ac.uk/pdbe-srv/view/entry/2MDF PDB 2YGG http://www.ebi.ac.uk/pdbe-srv/view/entry/2YGG PDBsum 1Y4E http://www.ebi.ac.uk/pdbsum/1Y4E PDBsum 2BEC http://www.ebi.ac.uk/pdbsum/2BEC PDBsum 2E30 http://www.ebi.ac.uk/pdbsum/2E30 PDBsum 2HTG http://www.ebi.ac.uk/pdbsum/2HTG PDBsum 2KBV http://www.ebi.ac.uk/pdbsum/2KBV PDBsum 2L0E http://www.ebi.ac.uk/pdbsum/2L0E PDBsum 2MDF http://www.ebi.ac.uk/pdbsum/2MDF PDBsum 2YGG http://www.ebi.ac.uk/pdbsum/2YGG PRINTS PR01084 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01084 PRINTS PR01085 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01085 PSORT swissprot:SL9A1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SL9A1_HUMAN PSORT-B swissprot:SL9A1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SL9A1_HUMAN PSORT2 swissprot:SL9A1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SL9A1_HUMAN Pfam PF00999 http://pfam.xfam.org/family/PF00999 Pfam PF16644 http://pfam.xfam.org/family/PF16644 PharmGKB PA35928 http://www.pharmgkb.org/do/serve?objId=PA35928&objCls=Gene Phobius swissprot:SL9A1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SL9A1_HUMAN PhylomeDB P19634 http://phylomedb.org/?seqid=P19634 ProteinModelPortal P19634 http://www.proteinmodelportal.org/query/uniprot/P19634 PubMed 10713111 http://www.ncbi.nlm.nih.gov/pubmed/10713111 PubMed 10913675 http://www.ncbi.nlm.nih.gov/pubmed/10913675 PubMed 11350981 http://www.ncbi.nlm.nih.gov/pubmed/11350981 PubMed 11696366 http://www.ncbi.nlm.nih.gov/pubmed/11696366 PubMed 12226101 http://www.ncbi.nlm.nih.gov/pubmed/12226101 PubMed 12809501 http://www.ncbi.nlm.nih.gov/pubmed/12809501 PubMed 14680478 http://www.ncbi.nlm.nih.gov/pubmed/14680478 PubMed 15035633 http://www.ncbi.nlm.nih.gov/pubmed/15035633 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15677483 http://www.ncbi.nlm.nih.gov/pubmed/15677483 PubMed 16511206 http://www.ncbi.nlm.nih.gov/pubmed/16511206 PubMed 16710297 http://www.ncbi.nlm.nih.gov/pubmed/16710297 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 17050540 http://www.ncbi.nlm.nih.gov/pubmed/17050540 PubMed 1712287 http://www.ncbi.nlm.nih.gov/pubmed/1712287 PubMed 17525332 http://www.ncbi.nlm.nih.gov/pubmed/17525332 PubMed 18088087 http://www.ncbi.nlm.nih.gov/pubmed/18088087 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 19690332 http://www.ncbi.nlm.nih.gov/pubmed/19690332 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 21392185 http://www.ncbi.nlm.nih.gov/pubmed/21392185 PubMed 21406692 http://www.ncbi.nlm.nih.gov/pubmed/21406692 PubMed 2154036 http://www.ncbi.nlm.nih.gov/pubmed/2154036 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 25205112 http://www.ncbi.nlm.nih.gov/pubmed/25205112 PubMed 2536298 http://www.ncbi.nlm.nih.gov/pubmed/2536298 PubMed 8068684 http://www.ncbi.nlm.nih.gov/pubmed/8068684 PubMed 8283968 http://www.ncbi.nlm.nih.gov/pubmed/8283968 PubMed 8901634 http://www.ncbi.nlm.nih.gov/pubmed/8901634 PubMed 8967452 http://www.ncbi.nlm.nih.gov/pubmed/8967452 PubMed 9688597 http://www.ncbi.nlm.nih.gov/pubmed/9688597 Reactome R-HSA-2160916 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2160916 Reactome R-HSA-425986 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-425986 RefSeq NP_003038 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_003038 SMR P19634 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P19634 STRING 9606.ENSP00000263980 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000263980&targetmode=cogs TCDB 2.A.36.1.13 http://www.tcdb.org/search/result.php?tc=2.A.36.1.13 TIGRFAMs TIGR00840 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00840 UCSC uc001bnm http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001bnm&org=rat UniGene Hs.469116 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.469116 UniProtKB SL9A1_HUMAN http://www.uniprot.org/uniprot/SL9A1_HUMAN UniProtKB-AC P19634 http://www.uniprot.org/uniprot/P19634 charge swissprot:SL9A1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SL9A1_HUMAN eggNOG COG0025 http://eggnogapi.embl.de/nog_data/html/tree/COG0025 eggNOG KOG1966 http://eggnogapi.embl.de/nog_data/html/tree/KOG1966 epestfind swissprot:SL9A1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SL9A1_HUMAN garnier swissprot:SL9A1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SL9A1_HUMAN helixturnhelix swissprot:SL9A1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SL9A1_HUMAN hmoment swissprot:SL9A1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SL9A1_HUMAN iep swissprot:SL9A1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SL9A1_HUMAN inforesidue swissprot:SL9A1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SL9A1_HUMAN neXtProt NX_P19634 http://www.nextprot.org/db/entry/NX_P19634 octanol swissprot:SL9A1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SL9A1_HUMAN pepcoil swissprot:SL9A1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SL9A1_HUMAN pepdigest swissprot:SL9A1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SL9A1_HUMAN pepinfo swissprot:SL9A1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SL9A1_HUMAN pepnet swissprot:SL9A1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SL9A1_HUMAN pepstats swissprot:SL9A1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SL9A1_HUMAN pepwheel swissprot:SL9A1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SL9A1_HUMAN pepwindow swissprot:SL9A1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SL9A1_HUMAN sigcleave swissprot:SL9A1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SL9A1_HUMAN ## Database ID URL or Descriptions # AltName KCNU1_HUMAN Calcium-activated potassium channel subunit alpha-3 # AltName KCNU1_HUMAN Calcium-activated potassium channel, subfamily M subunit alpha-3 # AltName KCNU1_HUMAN KCa5 # AltName KCNU1_HUMAN Slowpoke homolog 3 # DOMAIN KCNU1_HUMAN The C-terminal cytosolic region confers the pH-dependence. {ECO 0000250}. # DOMAIN KCNU1_HUMAN The RCK N-terminal domain mediates the homotetramerization, thereby promoting the assembly of monomers into functional potassium channel. {ECO 0000250}. # DOMAIN KCNU1_HUMAN The S4 segment, which is characterized by a series of positively charged amino acids at every third position, is part of the voltage-sensor. {ECO 0000250}. # DOMAIN KCNU1_HUMAN The pore-forming domain (also referred as P region) is imbedded into the membrane, and forms the selectivity filter of the pore. It contains the signature sequence of potassium channels that displays selectivity to potassium (By similarity). {ECO 0000250}. # Ensembl ENST00000399881 ENSP00000382770; ENSG00000215262 # ExpressionAtlas A8MYU2 baseline and differential # FUNCTION KCNU1_HUMAN Testis-specific potassium channel activated by both intracellular pH and membrane voltage that mediates export of K(+). May represent the primary spermatozoan K(+) current. In contrast to KCNMA1/SLO1, it is not activated by Ca(2+) or Mg(2+). Critical for fertility. May play an important role in sperm osmoregulation required for the acquisition of normal morphology and motility when faced with osmotic challenges, such as those experienced after mixing with seminal fluid and entry into the vagina. {ECO 0000269|PubMed 23129643}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0008076 voltage-gated potassium channel complex; IBA:GO_Central. # GO_function GO:0005249 voltage-gated potassium channel activity; IBA:GO_Central. # GO_function GO:0005267 potassium channel activity; TAS:Reactome. # GO_function GO:0060072 large conductance calcium-activated potassium channel activity; IBA:GO_Central. # GO_process GO:0035036 sperm-egg recognition; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0008150 biological_process # Gene3D 3.40.50.720 -; 2. # Genevisible A8MYU2 HS # HGNC HGNC:18867 KCNU1 # InterPro IPR003929 K_chnl_Ca-activ_BK_asu # InterPro IPR005821 Ion_trans_dom # InterPro IPR016040 NAD(P)-bd_dom # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04270 Vascular smooth muscle contraction # MIM 615215 gene # Organism KCNU1_HUMAN Homo sapiens (Human) # PDB 4HPF X-ray; 3.40 A; A/B=330-1062 # PRINTS PR01449 BKCHANNELA # Pfam PF00520 Ion_trans # Pfam PF03493 BK_channel_a # Proteomes UP000005640 Chromosome 8 # Reactome R-HSA-1300642 Sperm Motility And Taxes # RecName KCNU1_HUMAN Potassium channel subfamily U member 1 # RefSeq NP_001027006 NM_001031836.2 # SIMILARITY Belongs to the potassium channel family. Calcium- activated (TC 1.A.1.3) subfamily. KCa5.1/KCNU1 sub-subfamily. {ECO 0000305}. # SIMILARITY Contains 1 RCK N-terminal domain. {ECO 0000305}. # SUBCELLULAR LOCATION KCNU1_HUMAN Cell membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. # SUBUNIT Homotetramer; which constitutes the calcium-activated potassium channel. May interact with LRRC52; this interaction may change channel gating properties, such as shifting gating to more negative potentials at a given pH. {ECO 0000250}. # TISSUE SPECIFICITY Testis-specific. {ECO:0000269|PubMed 9452476}. # UCSC uc010lvw human # eggNOG ENOG410YUX1 LUCA # eggNOG KOG1420 Eukaryota BLAST swissprot:KCNU1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCNU1_HUMAN BioCyc ZFISH:G66-33782-MONOMER http://biocyc.org/getid?id=ZFISH:G66-33782-MONOMER COXPRESdb 157855 http://coxpresdb.jp/data/gene/157855.shtml CleanEx HS_KCNU1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNU1 DIP DIP-60091N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-60091N DOI 10.1038/nature04406 http://dx.doi.org/10.1038/nature04406 DOI 10.1073/pnas.1215078109 http://dx.doi.org/10.1073/pnas.1215078109 DOI 10.1074/jbc.273.6.3509 http://dx.doi.org/10.1074/jbc.273.6.3509 EMBL AC124076 http://www.ebi.ac.uk/ena/data/view/AC124076 Ensembl ENST00000399881 http://www.ensembl.org/id/ENST00000399881 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0008076 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008076 GO_function GO:0005249 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005249 GO_function GO:0005267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005267 GO_function GO:0060072 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060072 GO_process GO:0035036 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035036 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 Gene3D 3.40.50.720 http://www.cathdb.info/version/latest/superfamily/3.40.50.720 GeneCards KCNU1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNU1 GeneID 157855 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=157855 GeneTree ENSGT00530000063026 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000063026 H-InvDB HIX0020845 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0020845 HGNC HGNC:18867 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:18867 HOGENOM HOG000019856 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000019856&db=HOGENOM6 HOVERGEN HBG052222 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052222&db=HOVERGEN InParanoid A8MYU2 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=A8MYU2 InterPro IPR003929 http://www.ebi.ac.uk/interpro/entry/IPR003929 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR016040 http://www.ebi.ac.uk/interpro/entry/IPR016040 Jabion 157855 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=157855 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:157855 http://www.genome.jp/dbget-bin/www_bget?hsa:157855 KEGG_Orthology KO:K05274 http://www.genome.jp/dbget-bin/www_bget?KO:K05274 KEGG_Pathway ko04270 http://www.genome.jp/kegg-bin/show_pathway?ko04270 MIM 615215 http://www.ncbi.nlm.nih.gov/omim/615215 OMA DSSGMFH http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=DSSGMFH OrthoDB EOG091G148D http://cegg.unige.ch/orthodb/results?searchtext=EOG091G148D PDB 4HPF http://www.ebi.ac.uk/pdbe-srv/view/entry/4HPF PDBsum 4HPF http://www.ebi.ac.uk/pdbsum/4HPF PRINTS PR01449 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01449 PSORT swissprot:KCNU1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCNU1_HUMAN PSORT-B swissprot:KCNU1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCNU1_HUMAN PSORT2 swissprot:KCNU1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCNU1_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF03493 http://pfam.xfam.org/family/PF03493 PharmGKB PA38727 http://www.pharmgkb.org/do/serve?objId=PA38727&objCls=Gene Phobius swissprot:KCNU1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCNU1_HUMAN PhylomeDB A8MYU2 http://phylomedb.org/?seqid=A8MYU2 ProteinModelPortal A8MYU2 http://www.proteinmodelportal.org/query/uniprot/A8MYU2 PubMed 16421571 http://www.ncbi.nlm.nih.gov/pubmed/16421571 PubMed 23129643 http://www.ncbi.nlm.nih.gov/pubmed/23129643 PubMed 9452476 http://www.ncbi.nlm.nih.gov/pubmed/9452476 Reactome R-HSA-1300642 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1300642 RefSeq NP_001027006 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001027006 SMR A8MYU2 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=A8MYU2 STRING 9606.ENSP00000382770 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000382770&targetmode=cogs UCSC uc010lvw http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc010lvw&org=rat UniGene Hs.13861 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.13861 UniProtKB KCNU1_HUMAN http://www.uniprot.org/uniprot/KCNU1_HUMAN UniProtKB-AC A8MYU2 http://www.uniprot.org/uniprot/A8MYU2 charge swissprot:KCNU1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCNU1_HUMAN eggNOG ENOG410YUX1 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410YUX1 eggNOG KOG1420 http://eggnogapi.embl.de/nog_data/html/tree/KOG1420 epestfind swissprot:KCNU1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCNU1_HUMAN garnier swissprot:KCNU1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCNU1_HUMAN helixturnhelix swissprot:KCNU1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCNU1_HUMAN hmoment swissprot:KCNU1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCNU1_HUMAN iep swissprot:KCNU1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCNU1_HUMAN inforesidue swissprot:KCNU1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCNU1_HUMAN neXtProt NX_A8MYU2 http://www.nextprot.org/db/entry/NX_A8MYU2 octanol swissprot:KCNU1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCNU1_HUMAN pepcoil swissprot:KCNU1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCNU1_HUMAN pepdigest swissprot:KCNU1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCNU1_HUMAN pepinfo swissprot:KCNU1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCNU1_HUMAN pepnet swissprot:KCNU1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCNU1_HUMAN pepstats swissprot:KCNU1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCNU1_HUMAN pepwheel swissprot:KCNU1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCNU1_HUMAN pepwindow swissprot:KCNU1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCNU1_HUMAN sigcleave swissprot:KCNU1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCNU1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS SCN5A_HUMAN Event=Alternative splicing; Named isoforms=6; Name=1; Synonyms=CAG-inclusive variant, Nav1.5c; IsoId=Q14524-1; Sequence=Displayed; Note=Most abundant isoform in heart.; Name=2; Synonyms=Nav1.5b; IsoId=Q14524-2; Sequence=VSP_037478; Note=Very abundant isoform.; Name=3; IsoId=Q14524-3; Sequence=VSP_037477, VSP_037478, VSP_037481; Name=4; Synonyms=Nav1.5e, neonatal; IsoId=Q14524-4; Sequence=VSP_037477; Note=Abundantly expressed in neonatal brain and heart, slower kinetics of activation and inactivation.; Name=5; Synonyms=Ex18del, Nav1.5a; IsoId=Q14524-5; Sequence=VSP_037477, VSP_037479; Note=Only detected in neuroblastoma in humans.; Name=6; Synonyms=Ex24del, Nav1.5f; IsoId=Q14524-6; Sequence=VSP_037477, VSP_037480; Note=High expression in brain where it accounts for nearly 50% of the total transcripts. Non-functional channel, may exist to limit the number of undesired functional Nav1.5 channels.; # AltName SCN5A_HUMAN HH1 # AltName SCN5A_HUMAN Sodium channel protein cardiac muscle subunit alpha # AltName SCN5A_HUMAN Sodium channel protein type V subunit alpha # AltName SCN5A_HUMAN Voltage-gated sodium channel subunit alpha Nav1.5 # BioGrid 112236 11 # CCDS CCDS46796 -. [Q14524-1] # CCDS CCDS46797 -. [Q14524-2] # CCDS CCDS46798 -. [Q14524-6] # CCDS CCDS46799 -. [Q14524-4] # CCDS CCDS54569 -. [Q14524-5] # CCDS CCDS54570 -. [Q14524-3] # DISEASE SCN5A_HUMAN Atrial fibrillation, familial, 10 (ATFB10) [MIM 614022] A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. {ECO 0000269|PubMed 18088563, ECO 0000269|PubMed 18378609}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE SCN5A_HUMAN Atrial standstill 1 (ATRST1) [MIM 108770] A rare arrhythmia characterized by the absence of electrical and mechanical activity in the atria. Electrocardiographically, it is characterized by bradycardia, the absence of P waves, and a junctional narrow complex escape rhythm. {ECO 0000269|PubMed 12522116}. Note=The disease may be caused by mutations affecting distinct genetic loci, including the gene represented in this entry. A mutation in SCN5A has been detected in combination with a rare GJA5 genotype in a large family with atrial standstill. # DISEASE SCN5A_HUMAN Brugada syndrome 1 (BRGDA1) [MIM 601144] A tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset. {ECO 0000269|PubMed 11748104, ECO 0000269|PubMed 11901046, ECO 0000269|PubMed 12051963, ECO 0000269|PubMed 12106943, ECO 0000269|PubMed 15023552, ECO 0000269|PubMed 15338453, ECO 0000269|PubMed 15579534, ECO 0000269|PubMed 15851320, ECO 0000269|PubMed 16266370, ECO 0000269|PubMed 16325048, ECO 0000269|PubMed 16616735, ECO 0000269|PubMed 17075016, ECO 0000269|PubMed 17081365, ECO 0000269|PubMed 17198989, ECO 0000269|PubMed 18252757, ECO 0000269|PubMed 18341814, ECO 0000269|PubMed 18451998, ECO 0000269|PubMed 18456723, ECO 0000269|PubMed 18616619, ECO 0000269|PubMed 19251209, ECO 0000269|PubMed 19272188, ECO 0000269|PubMed 20129283, ECO 0000269|PubMed 23085483, ECO 0000269|PubMed 24167619, ECO 0000269|PubMed 26279430, ECO 0000269|PubMed 26776555, ECO 0000269|PubMed 9521325}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE SCN5A_HUMAN Cardiomyopathy, dilated 1E (CMD1E) [MIM 601154] A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO 0000269|PubMed 15466643}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE SCN5A_HUMAN Familial paroxysmal ventricular fibrillation 1 (VF1) [MIM 603829] A cardiac arrhythmia marked by fibrillary contractions of the ventricular muscle due to rapid repetitive excitation of myocardial fibers without coordinated contraction of the ventricle and by absence of atrial activity. {ECO 0000269|PubMed 10940383}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE SCN5A_HUMAN Long QT syndrome 3 (LQT3) [MIM 603830] A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. {ECO 0000269|PubMed 10377081, ECO 0000269|PubMed 10508990, ECO 0000269|PubMed 10627139, ECO 0000269|PubMed 10911008, ECO 0000269|PubMed 10973849, ECO 0000269|PubMed 11304498, ECO 0000269|PubMed 11997281, ECO 0000269|PubMed 12209021, ECO 0000269|PubMed 12673799, ECO 0000269|PubMed 15840476, ECO 0000269|PubMed 16414944, ECO 0000269|PubMed 16922724, ECO 0000269|PubMed 18060054, ECO 0000269|PubMed 18708744, ECO 0000269|PubMed 18848812, ECO 0000269|PubMed 18929331, ECO 0000269|PubMed 19716085, ECO 0000269|PubMed 26392562, ECO 0000269|PubMed 7651517, ECO 0000269|PubMed 7889574, ECO 0000269|PubMed 8541846, ECO 0000269|PubMed 9506831, ECO 0000269|PubMed 9686753, ECO 0000269|Ref.31}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE SCN5A_HUMAN Progressive familial heart block 1A (PFHB1A) [MIM 113900] A cardiac bundle branch disorder characterized by progressive alteration of cardiac conduction through the His- Purkinje system, with a pattern of a right bundle-branch block and/or left anterior hemiblock occurring individually or together. It leads to complete atrio-ventricular block causing syncope and sudden death. {ECO 0000269|PubMed 12569159, ECO 0000269|PubMed 12574143, ECO 0000269|PubMed 19251209}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE SCN5A_HUMAN Sick sinus syndrome 1 (SSS1) [MIM 608567] The term 'sick sinus syndrome' encompasses a variety of conditions caused by sinus node dysfunction. The most common clinical manifestations are syncope, presyncope, dizziness, and fatigue. Electrocardiogram typically shows sinus bradycardia, sinus arrest, and/or sinoatrial block. Episodes of atrial tachycardias coexisting with sinus bradycardia ('tachycardia-bradycardia syndrome') are also common in this disorder. SSS occurs most often in the elderly associated with underlying heart disease or previous cardiac surgery, but can also occur in the fetus, infant, or child without heart disease or other contributing factors. SSS1 onset is in utero, infancy, or early childhood. {ECO 0000269|PubMed 14523039, ECO 0000269|PubMed 22795782}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE SCN5A_HUMAN Sudden infant death syndrome (SIDS) [MIM 272120] SIDS is the sudden death of an infant younger than 1 year that remains unexplained after a thorough case investigation, including performance of a complete autopsy, examination of the death scene, and review of clinical history. Pathophysiologic mechanisms for SIDS may include respiratory dysfunction, cardiac dysrhythmias, cardiorespiratory instability, and inborn errors of metabolism, but definitive pathogenic mechanisms precipitating an infant sudden death remain elusive. {ECO 0000269|PubMed 18596570, ECO 0000269|PubMed 19302788}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. # DOMAIN SCN5A_HUMAN The IQ domain mediates association with calmodulin. {ECO 0000269|PubMed 21167176, ECO 0000269|PubMed 22705208}. # DOMAIN SCN5A_HUMAN The sequence contains 4 internal repeats, each with 5 hydrophobic segments (S1,S2,S3,S5,S6) and one positively charged segment (S4). Segments S4 are probably the voltage-sensors and are characterized by a series of positively charged amino acids at every third position. # DrugBank DB00192 Indecainide # DrugBank DB00243 Ranolazine # DrugBank DB00252 Phenytoin # DrugBank DB00280 Disopyramide # DrugBank DB00281 Lidocaine # DrugBank DB00313 Valproic Acid # DrugBank DB00379 Mexiletine # DrugBank DB00473 Hexylcaine # DrugBank DB00527 Cinchocaine # DrugBank DB00564 Carbamazepine # DrugBank DB00661 Verapamil # DrugBank DB00680 Moricizine # DrugBank DB00740 Riluzole # DrugBank DB00750 Prilocaine # DrugBank DB00754 Ethotoin # DrugBank DB00776 Oxcarbazepine # DrugBank DB00868 Benzonatate # DrugBank DB00907 Cocaine # DrugBank DB00908 Quinidine # DrugBank DB00909 Zonisamide # DrugBank DB01035 Procainamide # DrugBank DB01056 Tocainide # DrugBank DB01182 Propafenone # DrugBank DB01195 Flecainide # DrugBank DB01228 Encainide # DrugBank DB01320 Fosphenytoin # DrugBank DB01346 Quinidine barbiturate # DrugBank DB01426 Ajmaline # DrugBank DB01429 Aprindine # Ensembl ENST00000333535 ENSP00000328968; ENSG00000183873. [Q14524-1] # Ensembl ENST00000423572 ENSP00000398266; ENSG00000183873. [Q14524-2] # ExpressionAtlas Q14524 baseline and differential # FUNCTION SCN5A_HUMAN This protein mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient. It is a tetrodotoxin-resistant Na(+) channel isoform. This channel is responsible for the initial upstroke of the action potential. Channel inactivation is regulated by intracellular calcium levels. {ECO 0000269|PubMed 1309946, ECO 0000269|PubMed 19074138, ECO 0000269|PubMed 23085483, ECO 0000269|PubMed 24167619, ECO 0000269|PubMed 26279430, ECO 0000269|PubMed 26392562, ECO 0000269|PubMed 26776555}. # GO_component GO:0001518 voltage-gated sodium channel complex; IDA:BHF-UCL. # GO_component GO:0005622 intracellular; IDA:UniProtKB. # GO_component GO:0005783 endoplasmic reticulum; IDA:BHF-UCL. # GO_component GO:0005886 plasma membrane; IMP:UniProtKB. # GO_component GO:0005901 caveola; IDA:BHF-UCL. # GO_component GO:0009986 cell surface; IDA:UniProtKB. # GO_component GO:0014704 intercalated disc; IDA:BHF-UCL. # GO_component GO:0016021 integral component of membrane; IDA:UniProtKB. # GO_component GO:0016328 lateral plasma membrane; TAS:BHF-UCL. # GO_component GO:0030018 Z disc; IDA:UniProtKB. # GO_component GO:0030315 T-tubule; IDA:BHF-UCL. # GO_component GO:0042383 sarcolemma; IDA:BHF-UCL. # GO_function GO:0005248 voltage-gated sodium channel activity; IDA:UniProtKB. # GO_function GO:0005516 calmodulin binding; IPI:BHF-UCL. # GO_function GO:0017134 fibroblast growth factor binding; IPI:BHF-UCL. # GO_function GO:0019899 enzyme binding; IPI:BHF-UCL. # GO_function GO:0019901 protein kinase binding; IPI:BHF-UCL. # GO_function GO:0019904 protein domain specific binding; IPI:UniProtKB. # GO_function GO:0030506 ankyrin binding; IDA:BHF-UCL. # GO_function GO:0031625 ubiquitin protein ligase binding; IPI:BHF-UCL. # GO_function GO:0044325 ion channel binding; IPI:BHF-UCL. # GO_function GO:0050998 nitric-oxide synthase binding; IPI:BHF-UCL. # GO_function GO:0086006 voltage-gated sodium channel activity involved in cardiac muscle cell action potential; IDA:BHF-UCL. # GO_function GO:0086060 voltage-gated sodium channel activity involved in AV node cell action potential; IMP:BHF-UCL. # GO_function GO:0086061 voltage-gated sodium channel activity involved in bundle of His cell action potential; IMP:BHF-UCL. # GO_function GO:0086062 voltage-gated sodium channel activity involved in Purkinje myocyte action potential; IMP:BHF-UCL. # GO_function GO:0086063 voltage-gated sodium channel activity involved in SA node cell action potential; IMP:BHF-UCL. # GO_function GO:0097110 scaffold protein binding; IPI:BHF-UCL. # GO_process GO:0002027 regulation of heart rate; IMP:UniProtKB. # GO_process GO:0003231 cardiac ventricle development; ISS:BHF-UCL. # GO_process GO:0003360 brainstem development; ISS:BHF-UCL. # GO_process GO:0006814 sodium ion transport; IDA:UniProtKB. # GO_process GO:0010765 positive regulation of sodium ion transport; IDA:BHF-UCL. # GO_process GO:0014894 response to denervation involved in regulation of muscle adaptation; ISS:BHF-UCL. # GO_process GO:0019228 neuronal action potential; IBA:GO_Central. # GO_process GO:0021537 telencephalon development; ISS:BHF-UCL. # GO_process GO:0021549 cerebellum development; ISS:BHF-UCL. # GO_process GO:0035725 sodium ion transmembrane transport; IDA:UniProtKB. # GO_process GO:0042475 odontogenesis of dentin-containing tooth; ISS:BHF-UCL. # GO_process GO:0045760 positive regulation of action potential; ISS:BHF-UCL. # GO_process GO:0050679 positive regulation of epithelial cell proliferation; ISS:BHF-UCL. # GO_process GO:0051899 membrane depolarization; IDA:BHF-UCL. # GO_process GO:0060048 cardiac muscle contraction; IMP:BHF-UCL. # GO_process GO:0060307 regulation of ventricular cardiac muscle cell membrane repolarization; IMP:BHF-UCL. # GO_process GO:0060371 regulation of atrial cardiac muscle cell membrane depolarization; IMP:BHF-UCL. # GO_process GO:0060372 regulation of atrial cardiac muscle cell membrane repolarization; IMP:BHF-UCL. # GO_process GO:0060373 regulation of ventricular cardiac muscle cell membrane depolarization; IMP:BHF-UCL. # GO_process GO:0061337 cardiac conduction; TAS:Reactome. # GO_process GO:0071277 cellular response to calcium ion; IDA:UniProtKB. # GO_process GO:0086002 cardiac muscle cell action potential involved in contraction; IMP:BHF-UCL. # GO_process GO:0086004 regulation of cardiac muscle cell contraction; IMP:BHF-UCL. # GO_process GO:0086005 ventricular cardiac muscle cell action potential; IMP:BHF-UCL. # GO_process GO:0086010 membrane depolarization during action potential; IDA:BHF-UCL. # GO_process GO:0086012 membrane depolarization during cardiac muscle cell action potential; IMP:BHF-UCL. # GO_process GO:0086015 SA node cell action potential; IMP:BHF-UCL. # GO_process GO:0086016 AV node cell action potential; IMP:BHF-UCL. # GO_process GO:0086043 bundle of His cell action potential; IMP:BHF-UCL. # GO_process GO:0086045 membrane depolarization during AV node cell action potential; IMP:BHF-UCL. # GO_process GO:0086046 membrane depolarization during SA node cell action potential; IMP:BHF-UCL. # GO_process GO:0086047 membrane depolarization during Purkinje myocyte cell action potential; IMP:BHF-UCL. # GO_process GO:0086048 membrane depolarization during bundle of His cell action potential; IMP:BHF-UCL. # GO_process GO:0086067 AV node cell to bundle of His cell communication; IMP:BHF-UCL. # GO_process GO:0086091 regulation of heart rate by cardiac conduction; IMP:BHF-UCL. # GO_process GO:1902305 regulation of sodium ion transmembrane transport; IDA:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005622 intracellular # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0008092 cytoskeletal protein binding # GOslim_function GO:0019899 enzyme binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.20.120.350 -; 4. # Genevisible Q14524 HS # HGNC HGNC:10593 SCN5A # INTERACTION SCN5A_HUMAN P62158 CALM3; NbExp=2; IntAct=EBI-726858, EBI-397435; Q13557 CAMK2D; NbExp=16; IntAct=EBI-726858, EBI-351018; Q99873 PRMT1; NbExp=2; IntAct=EBI-726858, EBI-78738; O60678 PRMT3; NbExp=2; IntAct=EBI-726858, EBI-2809009; P26045 PTPN3; NbExp=2; IntAct=EBI-726858, EBI-1047946; # IntAct Q14524 9 # InterPro IPR001696 Na_channel_asu # InterPro IPR005821 Ion_trans_dom # InterPro IPR008053 Na_channel_a5su # InterPro IPR010526 Na_trans_assoc # InterPro IPR024583 Na_trans_cytopl # InterPro IPR027359 Channel_four-helix_dom # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00294 [Cardiovascular disease] Dilated cardiomyopathy (DCM) # KEGG_Disease H00720 [Cardiovascular disease] Jervell and Lange-Nielsen syndrome (JLNS) # KEGG_Disease H00728 [Cardiovascular disease] Brugada syndrome (BRS) # KEGG_Disease H00729 [Cardiovascular disease] Sinus node dysfunction # KEGG_Disease H00730 [Cardiovascular disease] Familial idiopathic ventricular fibrillation # KEGG_Disease H00731 [Cardiovascular disease] Atrial fibrillation # KEGG_Disease H01263 [Cardiovascular disease] Lenegre-Lev disease # MIM 108770 phenotype # MIM 113900 phenotype # MIM 272120 phenotype # MIM 600163 gene # MIM 601144 phenotype # MIM 601154 phenotype # MIM 603829 phenotype # MIM 603830 phenotype # MIM 608567 phenotype # MIM 614022 phenotype # MISCELLANEOUS SCN5A_HUMAN Na(+) channels in mammalian cardiac membrane have functional properties quite distinct from Na(+) channels in nerve and skeletal muscle. # Organism SCN5A_HUMAN Homo sapiens (Human) # Orphanet 101016 Romano-Ward syndrome # Orphanet 130 Brugada syndrome # Orphanet 1344 Atrial stand still # Orphanet 154 Familial isolated dilated cardiomyopathy # Orphanet 166282 Familial sick sinus syndrome # Orphanet 228140 Idiopathic ventricular fibrillation, not Brugada type # Orphanet 334 Familial atrial fibrillation # Orphanet 871 Familial progressive cardiac conduction defect # PDB 2KBI NMR; -; A=1773-1865 # PDB 2L53 NMR; -; B=1901-1927 # PDB 4DCK X-ray; 2.20 A; A=1773-1940 # PDB 4DJC X-ray; 1.35 A; B=1491-1522 # PDB 4JQ0 X-ray; 3.84 A; D=1773-1940 # PDB 4OVN X-ray; 2.80 A; F/G/H/I/J=1773-1929 # PIR A38195 A38195 # PRINTS PR00170 NACHANNEL # PRINTS PR01666 NACHANNEL5 # PTM SCN5A_HUMAN Phosphorylation at Ser-1503 by PKC in a highly conserved cytoplasmic loop slows inactivation of the sodium channel and reduces peak sodium currents (Probable). Regulated through phosphorylation by CaMK2D (By similarity). {ECO 0000250|UniProtKB Q9JJV9, ECO 0000305|PubMed 19666841}. # PTM SCN5A_HUMAN Ubiquitinated by NEDD4L; which promotes its endocytosis. Does not seem to be ubiquitinated by NEDD4 or WWP2. {ECO 0000269|PubMed 15217910, ECO 0000269|PubMed 15548568}. # Pfam PF00520 Ion_trans; 4 # Pfam PF06512 Na_trans_assoc # Pfam PF11933 Na_trans_cytopl # Proteomes UP000005640 Chromosome 3 # Reactome R-HSA-445095 Interaction between L1 and Ankyrins # Reactome R-HSA-5576892 Phase 0 - rapid depolarisation # RecName SCN5A_HUMAN Sodium channel protein type 5 subunit alpha # RefSeq NP_000326 NM_000335.4. [Q14524-2] # RefSeq NP_001092874 NM_001099404.1 # RefSeq NP_001092875 NM_001099405.1 # RefSeq NP_001153632 NM_001160160.1 # RefSeq NP_001153633 NM_001160161.1 # RefSeq NP_932173 NM_198056.2. [Q14524-1] # SIMILARITY Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.5/SCN5A subfamily. {ECO 0000305}. # SIMILARITY Contains 1 IQ domain. {ECO 0000305}. # SUBCELLULAR LOCATION SCN5A_HUMAN Cell membrane {ECO 0000269|PubMed 1309946, ECO 0000269|PubMed 19074138, ECO 0000269|PubMed 23085483, ECO 0000269|PubMed 26279430}; Multi-pass membrane protein {ECO 0000305}. # SUBUNIT SCN5A_HUMAN Interacts with the PDZ domain of the syntrophin SNTA1, SNTB1 and SNTB2 (By similarity). Interacts with NEDD4, NEDD4L, WWP2 and GPD1L (PubMed 15217910, PubMed 15548568, PubMed 19666841). Interacts with CALM (PubMed 21167176, PubMed 22705208). Interacts with FGF13; the interaction is direct and may regulate SNC5A density at membranes and function (PubMed 21817159, PubMed 22705208, PubMed 26392562). May also interact with FGF12 and FGF14 (PubMed 26392562). {ECO 0000250|UniProtKB Q9JJV9, ECO 0000269|PubMed 15217910, ECO 0000269|PubMed 15548568, ECO 0000269|PubMed 19666841, ECO 0000269|PubMed 21167176, ECO 0000269|PubMed 21817159, ECO 0000269|PubMed 22705208, ECO 0000269|PubMed 26392562}. # TCDB 1.A.1.10 the voltage-gated ion channel (vic) superfamily # TISSUE SPECIFICITY Found in jejunal circular smooth muscle cells (at protein level). Expressed in human atrial and ventricular cardiac muscle but not in adult skeletal muscle, brain, myometrium, liver, or spleen. Isoform 4 is expressed in brain. {ECO:0000269|PubMed 12358675}. # UCSC uc062ihe human. [Q14524-1] # eggNOG ENOG410XNP6 LUCA # eggNOG KOG2301 Eukaryota BLAST swissprot:SCN5A_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SCN5A_HUMAN BioCyc ZFISH:G66-32583-MONOMER http://biocyc.org/getid?id=ZFISH:G66-32583-MONOMER COXPRESdb 6331 http://coxpresdb.jp/data/gene/6331.shtml CleanEx HS_SCN5A http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SCN5A DIP DIP-38416N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-38416N DIP DIP-46144N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-46144N DOI 10.1001/jama.286.18.2264 http://dx.doi.org/10.1001/jama.286.18.2264 DOI 10.1001/jama.294.23.2975 http://dx.doi.org/10.1001/jama.294.23.2975 DOI 10.1002/(SICI)1096-8628(19991029)86:5<470::AID-AJMG13>3.0.CO http://dx.doi.org/10.1002/(SICI)1096-8628(19991029)86:5<470::AID-AJMG13>3.0.CO DOI 10.1002/(SICI)1098-1004(1998)12:1<72::AID-HUMU17>3.0.CO http://dx.doi.org/10.1002/(SICI)1098-1004(1998)12:1<72::AID-HUMU17>3.0.CO DOI 10.1002/humu.9136 http://dx.doi.org/10.1002/humu.9136 DOI 10.1007/s10038-004-0182-z http://dx.doi.org/10.1007/s10038-004-0182-z DOI 10.1016/0092-8674(95)90359-3 http://dx.doi.org/10.1016/0092-8674(95)90359-3 DOI 10.1016/S0008-6363(99)00350-8 http://dx.doi.org/10.1016/S0008-6363(99)00350-8 DOI 10.1016/S0014-5793(00)01875-5 http://dx.doi.org/10.1016/S0014-5793(00)01875-5 DOI 10.1016/S0014-5793(98)00033-7 http://dx.doi.org/10.1016/S0014-5793(98)00033-7 DOI 10.1016/S0140-6736(05)66786-4 http://dx.doi.org/10.1016/S0140-6736(05)66786-4 DOI 10.1016/S0735-1097(02)01962-9 http://dx.doi.org/10.1016/S0735-1097(02)01962-9 DOI 10.1016/S1096-7192(02)00006-9 http://dx.doi.org/10.1016/S1096-7192(02)00006-9 DOI 10.1016/j.arcped.2012.04.017 http://dx.doi.org/10.1016/j.arcped.2012.04.017 DOI 10.1016/j.cardiores.2004.01.022 http://dx.doi.org/10.1016/j.cardiores.2004.01.022 DOI 10.1016/j.cardiores.2006.02.030 http://dx.doi.org/10.1016/j.cardiores.2006.02.030 DOI 10.1016/j.febslet.2009.02.007 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10.1371/journal.pone.0001258 http://dx.doi.org/10.1371/journal.pone.0001258 DOI 10.1371/journal.pone.0078382 http://dx.doi.org/10.1371/journal.pone.0078382 DOI 10.4161/chan.4956 http://dx.doi.org/10.4161/chan.4956 DrugBank DB00192 http://www.drugbank.ca/drugs/DB00192 DrugBank DB00243 http://www.drugbank.ca/drugs/DB00243 DrugBank DB00252 http://www.drugbank.ca/drugs/DB00252 DrugBank DB00280 http://www.drugbank.ca/drugs/DB00280 DrugBank DB00281 http://www.drugbank.ca/drugs/DB00281 DrugBank DB00313 http://www.drugbank.ca/drugs/DB00313 DrugBank DB00379 http://www.drugbank.ca/drugs/DB00379 DrugBank DB00473 http://www.drugbank.ca/drugs/DB00473 DrugBank DB00527 http://www.drugbank.ca/drugs/DB00527 DrugBank DB00564 http://www.drugbank.ca/drugs/DB00564 DrugBank DB00661 http://www.drugbank.ca/drugs/DB00661 DrugBank DB00680 http://www.drugbank.ca/drugs/DB00680 DrugBank DB00740 http://www.drugbank.ca/drugs/DB00740 DrugBank DB00750 http://www.drugbank.ca/drugs/DB00750 DrugBank DB00754 http://www.drugbank.ca/drugs/DB00754 DrugBank DB00776 http://www.drugbank.ca/drugs/DB00776 DrugBank DB00868 http://www.drugbank.ca/drugs/DB00868 DrugBank DB00907 http://www.drugbank.ca/drugs/DB00907 DrugBank DB00908 http://www.drugbank.ca/drugs/DB00908 DrugBank DB00909 http://www.drugbank.ca/drugs/DB00909 DrugBank DB01035 http://www.drugbank.ca/drugs/DB01035 DrugBank DB01056 http://www.drugbank.ca/drugs/DB01056 DrugBank DB01182 http://www.drugbank.ca/drugs/DB01182 DrugBank DB01195 http://www.drugbank.ca/drugs/DB01195 DrugBank DB01228 http://www.drugbank.ca/drugs/DB01228 DrugBank DB01320 http://www.drugbank.ca/drugs/DB01320 DrugBank DB01346 http://www.drugbank.ca/drugs/DB01346 DrugBank DB01426 http://www.drugbank.ca/drugs/DB01426 DrugBank DB01429 http://www.drugbank.ca/drugs/DB01429 EMBL AB158469 http://www.ebi.ac.uk/ena/data/view/AB158469 EMBL AB158470 http://www.ebi.ac.uk/ena/data/view/AB158470 EMBL AB208866 http://www.ebi.ac.uk/ena/data/view/AB208866 EMBL AF482988 http://www.ebi.ac.uk/ena/data/view/AF482988 EMBL AP006241 http://www.ebi.ac.uk/ena/data/view/AP006241 EMBL AY038064 http://www.ebi.ac.uk/ena/data/view/AY038064 EMBL AY148488 http://www.ebi.ac.uk/ena/data/view/AY148488 EMBL BC140813 http://www.ebi.ac.uk/ena/data/view/BC140813 EMBL BC144621 http://www.ebi.ac.uk/ena/data/view/BC144621 EMBL DQ784809 http://www.ebi.ac.uk/ena/data/view/DQ784809 EMBL EF179185 http://www.ebi.ac.uk/ena/data/view/EF179185 EMBL EF629346 http://www.ebi.ac.uk/ena/data/view/EF629346 EMBL EF629347 http://www.ebi.ac.uk/ena/data/view/EF629347 EMBL M77235 http://www.ebi.ac.uk/ena/data/view/M77235 Ensembl ENST00000333535 http://www.ensembl.org/id/ENST00000333535 Ensembl ENST00000423572 http://www.ensembl.org/id/ENST00000423572 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0001518 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001518 GO_component GO:0005622 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005622 GO_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005901 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005901 GO_component GO:0009986 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009986 GO_component GO:0014704 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014704 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0016328 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016328 GO_component GO:0030018 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030018 GO_component GO:0030315 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030315 GO_component GO:0042383 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042383 GO_function GO:0005248 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005248 GO_function GO:0005516 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005516 GO_function GO:0017134 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0017134 GO_function GO:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GO_function GO:0019901 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019901 GO_function GO:0019904 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019904 GO_function GO:0030506 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030506 GO_function GO:0031625 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031625 GO_function GO:0044325 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044325 GO_function GO:0050998 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050998 GO_function GO:0086006 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086006 GO_function GO:0086060 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086060 GO_function GO:0086061 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086061 GO_function GO:0086062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086062 GO_function GO:0086063 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086063 GO_function GO:0097110 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097110 GO_process GO:0002027 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002027 GO_process GO:0003231 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003231 GO_process GO:0003360 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003360 GO_process GO:0006814 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006814 GO_process GO:0010765 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010765 GO_process GO:0014894 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014894 GO_process GO:0019228 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019228 GO_process GO:0021537 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021537 GO_process GO:0021549 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021549 GO_process GO:0035725 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035725 GO_process GO:0042475 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042475 GO_process GO:0045760 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045760 GO_process GO:0050679 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050679 GO_process GO:0051899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051899 GO_process GO:0060048 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060048 GO_process GO:0060307 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060307 GO_process GO:0060371 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060371 GO_process GO:0060372 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060372 GO_process GO:0060373 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060373 GO_process GO:0061337 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061337 GO_process GO:0071277 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071277 GO_process GO:0086002 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086002 GO_process GO:0086004 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086004 GO_process GO:0086005 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086005 GO_process GO:0086010 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086010 GO_process GO:0086012 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086012 GO_process GO:0086015 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086015 GO_process GO:0086016 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086016 GO_process GO:0086043 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086043 GO_process GO:0086045 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086045 GO_process GO:0086046 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086046 GO_process GO:0086047 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086047 GO_process GO:0086048 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086048 GO_process GO:0086067 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086067 GO_process GO:0086091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086091 GO_process GO:1902305 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902305 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005622 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005622 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0008092 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008092 GOslim_function GO:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.20.120.350 http://www.cathdb.info/version/latest/superfamily/1.20.120.350 GeneCards SCN5A http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SCN5A GeneID 6331 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6331 GeneTree ENSGT00830000128242 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00830000128242 HGNC HGNC:10593 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10593 HOVERGEN HBG053100 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG053100&db=HOVERGEN InParanoid Q14524 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q14524 IntAct Q14524 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q14524* InterPro IPR001696 http://www.ebi.ac.uk/interpro/entry/IPR001696 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR008053 http://www.ebi.ac.uk/interpro/entry/IPR008053 InterPro IPR010526 http://www.ebi.ac.uk/interpro/entry/IPR010526 InterPro IPR024583 http://www.ebi.ac.uk/interpro/entry/IPR024583 InterPro IPR027359 http://www.ebi.ac.uk/interpro/entry/IPR027359 Jabion 6331 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6331 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00294 http://www.genome.jp/dbget-bin/www_bget?H00294 KEGG_Disease H00720 http://www.genome.jp/dbget-bin/www_bget?H00720 KEGG_Disease H00728 http://www.genome.jp/dbget-bin/www_bget?H00728 KEGG_Disease H00729 http://www.genome.jp/dbget-bin/www_bget?H00729 KEGG_Disease H00730 http://www.genome.jp/dbget-bin/www_bget?H00730 KEGG_Disease H00731 http://www.genome.jp/dbget-bin/www_bget?H00731 KEGG_Disease H01263 http://www.genome.jp/dbget-bin/www_bget?H01263 KEGG_Gene hsa:6331 http://www.genome.jp/dbget-bin/www_bget?hsa:6331 KEGG_Orthology KO:K04838 http://www.genome.jp/dbget-bin/www_bget?KO:K04838 MIM 108770 http://www.ncbi.nlm.nih.gov/omim/108770 MIM 113900 http://www.ncbi.nlm.nih.gov/omim/113900 MIM 272120 http://www.ncbi.nlm.nih.gov/omim/272120 MIM 600163 http://www.ncbi.nlm.nih.gov/omim/600163 MIM 601144 http://www.ncbi.nlm.nih.gov/omim/601144 MIM 601154 http://www.ncbi.nlm.nih.gov/omim/601154 MIM 603829 http://www.ncbi.nlm.nih.gov/omim/603829 MIM 603830 http://www.ncbi.nlm.nih.gov/omim/603830 MIM 608567 http://www.ncbi.nlm.nih.gov/omim/608567 MIM 614022 http://www.ncbi.nlm.nih.gov/omim/614022 MINT MINT-249922 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-249922 Orphanet 101016 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=101016 Orphanet 130 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=130 Orphanet 1344 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1344 Orphanet 154 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=154 Orphanet 166282 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=166282 Orphanet 228140 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=228140 Orphanet 334 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=334 Orphanet 871 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=871 OrthoDB EOG091G00FK http://cegg.unige.ch/orthodb/results?searchtext=EOG091G00FK PDB 2KBI http://www.ebi.ac.uk/pdbe-srv/view/entry/2KBI PDB 2L53 http://www.ebi.ac.uk/pdbe-srv/view/entry/2L53 PDB 4DCK http://www.ebi.ac.uk/pdbe-srv/view/entry/4DCK PDB 4DJC http://www.ebi.ac.uk/pdbe-srv/view/entry/4DJC PDB 4JQ0 http://www.ebi.ac.uk/pdbe-srv/view/entry/4JQ0 PDB 4OVN http://www.ebi.ac.uk/pdbe-srv/view/entry/4OVN PDBsum 2KBI http://www.ebi.ac.uk/pdbsum/2KBI PDBsum 2L53 http://www.ebi.ac.uk/pdbsum/2L53 PDBsum 4DCK http://www.ebi.ac.uk/pdbsum/4DCK PDBsum 4DJC http://www.ebi.ac.uk/pdbsum/4DJC PDBsum 4JQ0 http://www.ebi.ac.uk/pdbsum/4JQ0 PDBsum 4OVN http://www.ebi.ac.uk/pdbsum/4OVN PRINTS PR00170 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00170 PRINTS PR01666 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01666 PSORT swissprot:SCN5A_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SCN5A_HUMAN PSORT-B swissprot:SCN5A_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SCN5A_HUMAN PSORT2 swissprot:SCN5A_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SCN5A_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF06512 http://pfam.xfam.org/family/PF06512 Pfam PF11933 http://pfam.xfam.org/family/PF11933 PharmGKB PA304 http://www.pharmgkb.org/do/serve?objId=PA304&objCls=Gene Phobius swissprot:SCN5A_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SCN5A_HUMAN PhylomeDB Q14524 http://phylomedb.org/?seqid=Q14524 ProteinModelPortal Q14524 http://www.proteinmodelportal.org/query/uniprot/Q14524 PubMed 10377081 http://www.ncbi.nlm.nih.gov/pubmed/10377081 PubMed 10471492 http://www.ncbi.nlm.nih.gov/pubmed/10471492 PubMed 10508990 http://www.ncbi.nlm.nih.gov/pubmed/10508990 PubMed 10532948 http://www.ncbi.nlm.nih.gov/pubmed/10532948 PubMed 10590249 http://www.ncbi.nlm.nih.gov/pubmed/10590249 PubMed 10618304 http://www.ncbi.nlm.nih.gov/pubmed/10618304 PubMed 10627139 http://www.ncbi.nlm.nih.gov/pubmed/10627139 PubMed 10690282 http://www.ncbi.nlm.nih.gov/pubmed/10690282 PubMed 10911008 http://www.ncbi.nlm.nih.gov/pubmed/10911008 PubMed 10940383 http://www.ncbi.nlm.nih.gov/pubmed/10940383 PubMed 10973849 http://www.ncbi.nlm.nih.gov/pubmed/10973849 PubMed 11234013 http://www.ncbi.nlm.nih.gov/pubmed/11234013 PubMed 11304498 http://www.ncbi.nlm.nih.gov/pubmed/11304498 PubMed 11410597 http://www.ncbi.nlm.nih.gov/pubmed/11410597 PubMed 11710892 http://www.ncbi.nlm.nih.gov/pubmed/11710892 PubMed 11748104 http://www.ncbi.nlm.nih.gov/pubmed/11748104 PubMed 11804990 http://www.ncbi.nlm.nih.gov/pubmed/11804990 PubMed 11823453 http://www.ncbi.nlm.nih.gov/pubmed/11823453 PubMed 11889015 http://www.ncbi.nlm.nih.gov/pubmed/11889015 PubMed 11901046 http://www.ncbi.nlm.nih.gov/pubmed/11901046 PubMed 11997281 http://www.ncbi.nlm.nih.gov/pubmed/11997281 PubMed 12051963 http://www.ncbi.nlm.nih.gov/pubmed/12051963 PubMed 12106943 http://www.ncbi.nlm.nih.gov/pubmed/12106943 PubMed 12193783 http://www.ncbi.nlm.nih.gov/pubmed/12193783 PubMed 12209021 http://www.ncbi.nlm.nih.gov/pubmed/12209021 PubMed 12358675 http://www.ncbi.nlm.nih.gov/pubmed/12358675 PubMed 12454206 http://www.ncbi.nlm.nih.gov/pubmed/12454206 PubMed 12471205 http://www.ncbi.nlm.nih.gov/pubmed/12471205 PubMed 12522116 http://www.ncbi.nlm.nih.gov/pubmed/12522116 PubMed 12569159 http://www.ncbi.nlm.nih.gov/pubmed/12569159 PubMed 12574143 http://www.ncbi.nlm.nih.gov/pubmed/12574143 PubMed 12673799 http://www.ncbi.nlm.nih.gov/pubmed/12673799 PubMed 1309946 http://www.ncbi.nlm.nih.gov/pubmed/1309946 PubMed 14500339 http://www.ncbi.nlm.nih.gov/pubmed/14500339 PubMed 14523039 http://www.ncbi.nlm.nih.gov/pubmed/14523039 PubMed 15023552 http://www.ncbi.nlm.nih.gov/pubmed/15023552 PubMed 15217910 http://www.ncbi.nlm.nih.gov/pubmed/15217910 PubMed 15338453 http://www.ncbi.nlm.nih.gov/pubmed/15338453 PubMed 15466643 http://www.ncbi.nlm.nih.gov/pubmed/15466643 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15548568 http://www.ncbi.nlm.nih.gov/pubmed/15548568 PubMed 15579534 http://www.ncbi.nlm.nih.gov/pubmed/15579534 PubMed 15840476 http://www.ncbi.nlm.nih.gov/pubmed/15840476 PubMed 15851320 http://www.ncbi.nlm.nih.gov/pubmed/15851320 PubMed 16054936 http://www.ncbi.nlm.nih.gov/pubmed/16054936 PubMed 16115203 http://www.ncbi.nlm.nih.gov/pubmed/16115203 PubMed 16266370 http://www.ncbi.nlm.nih.gov/pubmed/16266370 PubMed 16325048 http://www.ncbi.nlm.nih.gov/pubmed/16325048 PubMed 16414944 http://www.ncbi.nlm.nih.gov/pubmed/16414944 PubMed 16616735 http://www.ncbi.nlm.nih.gov/pubmed/16616735 PubMed 16641997 http://www.ncbi.nlm.nih.gov/pubmed/16641997 PubMed 16922724 http://www.ncbi.nlm.nih.gov/pubmed/16922724 PubMed 17075016 http://www.ncbi.nlm.nih.gov/pubmed/17075016 PubMed 17081365 http://www.ncbi.nlm.nih.gov/pubmed/17081365 PubMed 17198989 http://www.ncbi.nlm.nih.gov/pubmed/17198989 PubMed 18060054 http://www.ncbi.nlm.nih.gov/pubmed/18060054 PubMed 18088563 http://www.ncbi.nlm.nih.gov/pubmed/18088563 PubMed 18252757 http://www.ncbi.nlm.nih.gov/pubmed/18252757 PubMed 18341814 http://www.ncbi.nlm.nih.gov/pubmed/18341814 PubMed 18368697 http://www.ncbi.nlm.nih.gov/pubmed/18368697 PubMed 18378609 http://www.ncbi.nlm.nih.gov/pubmed/18378609 PubMed 18451998 http://www.ncbi.nlm.nih.gov/pubmed/18451998 PubMed 18456723 http://www.ncbi.nlm.nih.gov/pubmed/18456723 PubMed 18596570 http://www.ncbi.nlm.nih.gov/pubmed/18596570 PubMed 18599870 http://www.ncbi.nlm.nih.gov/pubmed/18599870 PubMed 18616619 http://www.ncbi.nlm.nih.gov/pubmed/18616619 PubMed 18708744 http://www.ncbi.nlm.nih.gov/pubmed/18708744 PubMed 18848812 http://www.ncbi.nlm.nih.gov/pubmed/18848812 PubMed 18929244 http://www.ncbi.nlm.nih.gov/pubmed/18929244 PubMed 18929331 http://www.ncbi.nlm.nih.gov/pubmed/18929331 PubMed 19027780 http://www.ncbi.nlm.nih.gov/pubmed/19027780 PubMed 19056759 http://www.ncbi.nlm.nih.gov/pubmed/19056759 PubMed 19074138 http://www.ncbi.nlm.nih.gov/pubmed/19074138 PubMed 19251209 http://www.ncbi.nlm.nih.gov/pubmed/19251209 PubMed 19272188 http://www.ncbi.nlm.nih.gov/pubmed/19272188 PubMed 19302788 http://www.ncbi.nlm.nih.gov/pubmed/19302788 PubMed 19376164 http://www.ncbi.nlm.nih.gov/pubmed/19376164 PubMed 19666841 http://www.ncbi.nlm.nih.gov/pubmed/19666841 PubMed 19716085 http://www.ncbi.nlm.nih.gov/pubmed/19716085 PubMed 20129283 http://www.ncbi.nlm.nih.gov/pubmed/20129283 PubMed 20398673 http://www.ncbi.nlm.nih.gov/pubmed/20398673 PubMed 21109022 http://www.ncbi.nlm.nih.gov/pubmed/21109022 PubMed 21167176 http://www.ncbi.nlm.nih.gov/pubmed/21167176 PubMed 21726068 http://www.ncbi.nlm.nih.gov/pubmed/21726068 PubMed 21817159 http://www.ncbi.nlm.nih.gov/pubmed/21817159 PubMed 22705208 http://www.ncbi.nlm.nih.gov/pubmed/22705208 PubMed 22795782 http://www.ncbi.nlm.nih.gov/pubmed/22795782 PubMed 23085483 http://www.ncbi.nlm.nih.gov/pubmed/23085483 PubMed 23092124 http://www.ncbi.nlm.nih.gov/pubmed/23092124 PubMed 24167619 http://www.ncbi.nlm.nih.gov/pubmed/24167619 PubMed 24898004 http://www.ncbi.nlm.nih.gov/pubmed/24898004 PubMed 26279430 http://www.ncbi.nlm.nih.gov/pubmed/26279430 PubMed 26392562 http://www.ncbi.nlm.nih.gov/pubmed/26392562 PubMed 26776555 http://www.ncbi.nlm.nih.gov/pubmed/26776555 PubMed 7651517 http://www.ncbi.nlm.nih.gov/pubmed/7651517 PubMed 7889574 http://www.ncbi.nlm.nih.gov/pubmed/7889574 PubMed 8541846 http://www.ncbi.nlm.nih.gov/pubmed/8541846 PubMed 9506831 http://www.ncbi.nlm.nih.gov/pubmed/9506831 PubMed 9521325 http://www.ncbi.nlm.nih.gov/pubmed/9521325 PubMed 9686753 http://www.ncbi.nlm.nih.gov/pubmed/9686753 Reactome R-HSA-445095 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-445095 Reactome R-HSA-5576892 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576892 RefSeq NP_000326 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000326 RefSeq NP_001092874 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001092874 RefSeq NP_001092875 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001092875 RefSeq NP_001153632 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001153632 RefSeq NP_001153633 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001153633 RefSeq NP_932173 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_932173 SMR Q14524 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q14524 STRING 9606.ENSP00000328968 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000328968&targetmode=cogs TCDB 1.A.1.10 http://www.tcdb.org/search/result.php?tc=1.A.1.10 UCSC uc062ihe http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc062ihe&org=rat UniGene Hs.517898 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.517898 UniProtKB SCN5A_HUMAN http://www.uniprot.org/uniprot/SCN5A_HUMAN UniProtKB-AC Q14524 http://www.uniprot.org/uniprot/Q14524 charge swissprot:SCN5A_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SCN5A_HUMAN eggNOG ENOG410XNP6 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XNP6 eggNOG KOG2301 http://eggnogapi.embl.de/nog_data/html/tree/KOG2301 epestfind swissprot:SCN5A_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SCN5A_HUMAN garnier swissprot:SCN5A_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SCN5A_HUMAN helixturnhelix swissprot:SCN5A_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SCN5A_HUMAN hmoment swissprot:SCN5A_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SCN5A_HUMAN iep swissprot:SCN5A_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SCN5A_HUMAN inforesidue swissprot:SCN5A_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SCN5A_HUMAN neXtProt NX_Q14524 http://www.nextprot.org/db/entry/NX_Q14524 octanol swissprot:SCN5A_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SCN5A_HUMAN pepcoil swissprot:SCN5A_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SCN5A_HUMAN pepdigest swissprot:SCN5A_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SCN5A_HUMAN pepinfo swissprot:SCN5A_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SCN5A_HUMAN pepnet swissprot:SCN5A_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SCN5A_HUMAN pepstats swissprot:SCN5A_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SCN5A_HUMAN pepwheel swissprot:SCN5A_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SCN5A_HUMAN pepwindow swissprot:SCN5A_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SCN5A_HUMAN sigcleave swissprot:SCN5A_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SCN5A_HUMAN ## Database ID URL or Descriptions # AltName CLIC1_HUMAN Chloride channel ABP # AltName CLIC1_HUMAN Nuclear chloride ion channel 27 # AltName CLIC1_HUMAN Regulatory nuclear chloride ion channel protein # BioGrid 107604 56 # ChiTaRS CLIC1 human # DOMAIN CLIC1_HUMAN Members of this family may change from a globular, soluble state to a state where the N-terminal domain is inserted into the membrane and functions as chloride channel. A conformation change of the N-terminal domain is thought to expose hydrophobic surfaces that trigger membrane insertion. {ECO 0000269|PubMed 14613939, ECO 0000269|PubMed 18850721}. # Ensembl ENST00000375779 ENSP00000364934; ENSG00000213719 # Ensembl ENST00000375780 ENSP00000364935; ENSG00000213719 # Ensembl ENST00000375784 ENSP00000364940; ENSG00000213719 # Ensembl ENST00000383404 ENSP00000372896; ENSG00000206394 # Ensembl ENST00000383405 ENSP00000372897; ENSG00000206394 # Ensembl ENST00000395892 ENSP00000379229; ENSG00000213719 # Ensembl ENST00000400052 ENSP00000382926; ENSG00000206394 # Ensembl ENST00000400058 ENSP00000382931; ENSG00000206394 # Ensembl ENST00000415179 ENSP00000409247; ENSG00000226248 # Ensembl ENST00000418285 ENSP00000407791; ENSG00000226417 # Ensembl ENST00000420458 ENSP00000410965; ENSG00000226651 # Ensembl ENST00000422167 ENSP00000407429; ENSG00000226248 # Ensembl ENST00000423055 ENSP00000406968; ENSG00000226417 # Ensembl ENST00000423143 ENSP00000404589; ENSG00000223639 # Ensembl ENST00000423804 ENSP00000409979; ENSG00000230685 # Ensembl ENST00000425464 ENSP00000401292; ENSG00000223639 # Ensembl ENST00000431921 ENSP00000408357; ENSG00000226248 # Ensembl ENST00000433916 ENSP00000391395; ENSG00000226651 # Ensembl ENST00000434202 ENSP00000400532; ENSG00000226651 # Ensembl ENST00000435242 ENSP00000412217; ENSG00000226417 # Ensembl ENST00000438708 ENSP00000406088; ENSG00000226248 # Ensembl ENST00000438750 ENSP00000404037; ENSG00000223639 # Ensembl ENST00000442045 ENSP00000400280; ENSG00000226417 # Ensembl ENST00000447338 ENSP00000413330; ENSG00000230685 # Ensembl ENST00000447369 ENSP00000408094; ENSG00000230685 # Ensembl ENST00000451546 ENSP00000416211; ENSG00000223639 # Ensembl ENST00000456863 ENSP00000406335; ENSG00000226651 # Ensembl ENST00000457485 ENSP00000398056; ENSG00000230685 # Ensembl ENST00000614673 ENSP00000480256; ENSG00000230685 # Ensembl ENST00000614982 ENSP00000477623; ENSG00000206394 # Ensembl ENST00000616760 ENSP00000479808; ENSG00000213719 # Ensembl ENST00000618288 ENSP00000479501; ENSG00000226417 # Ensembl ENST00000619727 ENSP00000482255; ENSG00000226651 # Ensembl ENST00000621055 ENSP00000478930; ENSG00000226248 # Ensembl ENST00000622613 ENSP00000484581; ENSG00000223639 # ExpressionAtlas O00299 baseline and differential # FUNCTION CLIC1_HUMAN Can insert into membranes and form chloride ion channels. Channel activity depends on the pH. Membrane insertion seems to be redox-regulated and may occur only under oxydizing conditions. Involved in regulation of the cell cycle. {ECO 0000269|PubMed 10834939, ECO 0000269|PubMed 11195932, ECO 0000269|PubMed 11551966, ECO 0000269|PubMed 11940526, ECO 0000269|PubMed 11978800, ECO 0000269|PubMed 14613939, ECO 0000269|PubMed 9139710}. # GO_component GO:0005615 extracellular space; IDA:UniProtKB. # GO_component GO:0005634 nucleus; IDA:UniProtKB. # GO_component GO:0005635 nuclear envelope; IDA:MGI. # GO_component GO:0005737 cytoplasm; IDA:UniProtKB. # GO_component GO:0005739 mitochondrion; IEA:Ensembl. # GO_component GO:0005886 plasma membrane; IEA:UniProtKB-SubCell. # GO_component GO:0005903 brush border; TAS:UniProtKB. # GO_component GO:0005913 cell-cell adherens junction; IDA:BHF-UCL. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0031965 nuclear membrane; IEA:UniProtKB-SubCell. # GO_component GO:0031982 vesicle; IDA:UniProtKB. # GO_component GO:0034707 chloride channel complex; IEA:UniProtKB-KW. # GO_component GO:0048471 perinuclear region of cytoplasm; IDA:BHF-UCL. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_component GO:0072562 blood microparticle; IDA:UniProtKB. # GO_function GO:0005244 voltage-gated ion channel activity; IEA:UniProtKB-KW. # GO_function GO:0005254 chloride channel activity; IDA:MGI. # GO_function GO:0098641 cadherin binding involved in cell-cell adhesion; IDA:BHF-UCL. # GO_process GO:0006821 chloride transport; IDA:MGI. # GO_process GO:0007165 signal transduction; TAS:UniProtKB. # GO_process GO:0045669 positive regulation of osteoblast differentiation; IEA:Ensembl. # GO_process GO:0051726 regulation of cell cycle; IEA:InterPro. # GO_process GO:0051881 regulation of mitochondrial membrane potential; IEA:Ensembl. # GO_process GO:0070527 platelet aggregation; IMP:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005615 extracellular space # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005635 nuclear envelope # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005739 mitochondrion # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007155 cell adhesion # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # Gene3D 1.20.1050.10 -; 1. # Gene3D 3.40.30.10 -; 1. # Genevisible O00299 HS # HGNC HGNC:2062 CLIC1 # IntAct O00299 42 # InterPro IPR002946 CLIC # InterPro IPR004045 Glutathione_S-Trfase_N # InterPro IPR010987 Glutathione-S-Trfase_C-like # InterPro IPR012336 Thioredoxin-like_fold # InterPro IPR030259 CLIC-1 # KEGG_Brite ko04040 Ion channels # MIM 602872 gene # MISCELLANEOUS CLIC1_HUMAN The protein seems to have very low affinity for glutathione, even though glutathione binding was observed in protein crystals. # Organism CLIC1_HUMAN Homo sapiens (Human) # PANTHER PTHR11260:SF210 PTHR11260:SF210; 2 # PDB 1K0M X-ray; 1.40 A; A/B=1-241 # PDB 1K0N X-ray; 1.80 A; A/B=1-241 # PDB 1K0O X-ray; 1.75 A; A/B=1-241 # PDB 1RK4 X-ray; 1.79 A; A/B=1-241 # PDB 3O3T X-ray; 1.70 A; A=1-241 # PDB 3P8W X-ray; 2.00 A; A=1-241 # PDB 3P90 X-ray; 2.30 A; A=1-241 # PDB 3QR6 X-ray; 1.78 A; A=1-241 # PDB 3SWL X-ray; 2.35 A; A=6-241 # PDB 3TGZ X-ray; 2.30 A; A/B=1-241 # PDB 3UVH X-ray; 1.84 A; A/B=1-241 # PDB 4IQA X-ray; 2.49 A; A/B=6-241 # PDB 4JZQ X-ray; 1.35 A; A/B=1-241 # PDB 4K0G X-ray; 1.40 A; A=2-241 # PDB 4K0N X-ray; 1.25 A; A=1-241 # PRINTS PR01263 INTCLCHANNEL # PROSITE PS50405 GST_CTER # PTM CLIC1_HUMAN Hydrogen peroxide treatment causes a conformation change, leading to dimerization and formation of an intramolecular disulfide bond between Cys-24 and Cys-59. # Pfam PF13409 GST_N_2 # Proteomes UP000005640 Chromosome 6 # RecName CLIC1_HUMAN Chloride intracellular channel protein 1 # RefSeq NP_001274522 NM_001287593.1 # RefSeq NP_001274523 NM_001287594.1 # RefSeq NP_001279 NM_001288.4 # SIMILARITY Belongs to the chloride channel CLIC family. {ECO 0000305}. # SIMILARITY Contains 1 GST C-terminal domain. {ECO 0000305}. # SUBCELLULAR LOCATION CLIC1_HUMAN Nucleus. Nucleus membrane {ECO 0000305}; Single-pass membrane protein {ECO 0000305}. Cytoplasm. Cell membrane {ECO 0000305}; Single-pass membrane protein {ECO 0000305}. Note=Mostly in the nucleus including in the nuclear membrane. Small amount in the cytoplasm and the plasma membrane. Exists both as soluble cytoplasmic protein and as membrane protein with probably a single transmembrane domain. # SUBUNIT CLIC1_HUMAN Monomer. Homodimer (in vitro). Interacts with TRAPPC2. Dimerization requires a conformation change that leads to the exposure of a large hydrophobic surface. In vivo, this may lead to membrane insertion. Interacts with AKAP9. {ECO 0000269|PubMed 11551966, ECO 0000269|PubMed 12163479, ECO 0000269|PubMed 12681486, ECO 0000269|PubMed 14613939}. # SUPFAM SSF47616 SSF47616 # SUPFAM SSF52833 SSF52833 # TCDB 1.A.12.1 the intracellular chloride channel (clic) family # TIGRFAMs TIGR00862 O-ClC # TISSUE SPECIFICITY Expression is prominent in heart, placenta, liver, kidney and pancreas. {ECO:0000269|PubMed 10793131}. # WEB RESOURCE CLIC1_HUMAN Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http //atlasgeneticsoncology.org/Genes/CLIC1ID50543ch6p21.html"; # eggNOG ENOG410INGZ Eukaryota # eggNOG ENOG410ZZZX LUCA BLAST swissprot:CLIC1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CLIC1_HUMAN BioCyc ZFISH:ENSG00000096238-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000096238-MONOMER COXPRESdb 1192 http://coxpresdb.jp/data/gene/1192.shtml CleanEx HS_CLIC1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CLIC1 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1016/S0014-5793(03)00228-X http://dx.doi.org/10.1016/S0014-5793(03)00228-X DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/ac9004309 http://dx.doi.org/10.1021/ac9004309 DOI 10.1021/bi801147r http://dx.doi.org/10.1021/bi801147r DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature02055 http://dx.doi.org/10.1038/nature02055 DOI 10.1073/pnas.1210303109 http://dx.doi.org/10.1073/pnas.1210303109 DOI 10.1074/jbc.272.19.12575 http://dx.doi.org/10.1074/jbc.272.19.12575 DOI 10.1074/jbc.M107804200 http://dx.doi.org/10.1074/jbc.M107804200 DOI 10.1074/jbc.M112277200 http://dx.doi.org/10.1074/jbc.M112277200 DOI 10.1074/jbc.M203666200 http://dx.doi.org/10.1074/jbc.M203666200 DOI 10.1074/jbc.M308444200 http://dx.doi.org/10.1074/jbc.M308444200 DOI 10.1074/mcp.M111.015131 http://dx.doi.org/10.1074/mcp.M111.015131 DOI 10.1091/mbc.11.5.1509 http://dx.doi.org/10.1091/mbc.11.5.1509 DOI 10.1101/gr.1736803 http://dx.doi.org/10.1101/gr.1736803 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1469-7793.2000.00541.x http://dx.doi.org/10.1111/j.1469-7793.2000.00541.x DOI 10.1126/science.1175371 http://dx.doi.org/10.1126/science.1175371 DOI 10.1152/ajpcell.00402.2001 http://dx.doi.org/10.1152/ajpcell.00402.2001 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AF034607 http://www.ebi.ac.uk/ena/data/view/AF034607 EMBL AF109197 http://www.ebi.ac.uk/ena/data/view/AF109197 EMBL AF129756 http://www.ebi.ac.uk/ena/data/view/AF129756 EMBL AJ012008 http://www.ebi.ac.uk/ena/data/view/AJ012008 EMBL AL662899 http://www.ebi.ac.uk/ena/data/view/AL662899 EMBL BA000025 http://www.ebi.ac.uk/ena/data/view/BA000025 EMBL BC064527 http://www.ebi.ac.uk/ena/data/view/BC064527 EMBL BC095469 http://www.ebi.ac.uk/ena/data/view/BC095469 EMBL CR542071 http://www.ebi.ac.uk/ena/data/view/CR542071 EMBL U93205 http://www.ebi.ac.uk/ena/data/view/U93205 EMBL X87689 http://www.ebi.ac.uk/ena/data/view/X87689 Ensembl ENST00000375779 http://www.ensembl.org/id/ENST00000375779 Ensembl ENST00000375780 http://www.ensembl.org/id/ENST00000375780 Ensembl ENST00000375784 http://www.ensembl.org/id/ENST00000375784 Ensembl ENST00000383404 http://www.ensembl.org/id/ENST00000383404 Ensembl ENST00000383405 http://www.ensembl.org/id/ENST00000383405 Ensembl ENST00000395892 http://www.ensembl.org/id/ENST00000395892 Ensembl ENST00000400052 http://www.ensembl.org/id/ENST00000400052 Ensembl ENST00000400058 http://www.ensembl.org/id/ENST00000400058 Ensembl ENST00000415179 http://www.ensembl.org/id/ENST00000415179 Ensembl ENST00000418285 http://www.ensembl.org/id/ENST00000418285 Ensembl ENST00000420458 http://www.ensembl.org/id/ENST00000420458 Ensembl ENST00000422167 http://www.ensembl.org/id/ENST00000422167 Ensembl ENST00000423055 http://www.ensembl.org/id/ENST00000423055 Ensembl ENST00000423143 http://www.ensembl.org/id/ENST00000423143 Ensembl ENST00000423804 http://www.ensembl.org/id/ENST00000423804 Ensembl ENST00000425464 http://www.ensembl.org/id/ENST00000425464 Ensembl ENST00000431921 http://www.ensembl.org/id/ENST00000431921 Ensembl ENST00000433916 http://www.ensembl.org/id/ENST00000433916 Ensembl ENST00000434202 http://www.ensembl.org/id/ENST00000434202 Ensembl ENST00000435242 http://www.ensembl.org/id/ENST00000435242 Ensembl ENST00000438708 http://www.ensembl.org/id/ENST00000438708 Ensembl ENST00000438750 http://www.ensembl.org/id/ENST00000438750 Ensembl ENST00000442045 http://www.ensembl.org/id/ENST00000442045 Ensembl ENST00000447338 http://www.ensembl.org/id/ENST00000447338 Ensembl ENST00000447369 http://www.ensembl.org/id/ENST00000447369 Ensembl ENST00000451546 http://www.ensembl.org/id/ENST00000451546 Ensembl ENST00000456863 http://www.ensembl.org/id/ENST00000456863 Ensembl ENST00000457485 http://www.ensembl.org/id/ENST00000457485 Ensembl ENST00000614673 http://www.ensembl.org/id/ENST00000614673 Ensembl ENST00000614982 http://www.ensembl.org/id/ENST00000614982 Ensembl ENST00000616760 http://www.ensembl.org/id/ENST00000616760 Ensembl ENST00000618288 http://www.ensembl.org/id/ENST00000618288 Ensembl ENST00000619727 http://www.ensembl.org/id/ENST00000619727 Ensembl ENST00000621055 http://www.ensembl.org/id/ENST00000621055 Ensembl ENST00000622613 http://www.ensembl.org/id/ENST00000622613 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005615 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005615 GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005635 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005635 GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005903 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005903 GO_component GO:0005913 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005913 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0031965 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031965 GO_component GO:0031982 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031982 GO_component GO:0034707 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034707 GO_component GO:0048471 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048471 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_component GO:0072562 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0072562 GO_function GO:0005244 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005244 GO_function GO:0005254 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005254 GO_function GO:0098641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0098641 GO_process GO:0006821 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006821 GO_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GO_process GO:0045669 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045669 GO_process GO:0051726 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051726 GO_process GO:0051881 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051881 GO_process GO:0070527 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070527 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005615 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005615 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_component GO:0005635 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005635 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007155 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007155 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 Gene3D 1.20.1050.10 http://www.cathdb.info/version/latest/superfamily/1.20.1050.10 Gene3D 3.40.30.10 http://www.cathdb.info/version/latest/superfamily/3.40.30.10 GeneCards CLIC1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CLIC1 GeneID 1192 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=1192 GeneTree ENSGT00550000074477 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074477 HGNC HGNC:2062 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:2062 HOGENOM HOG000231548 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231548&db=HOGENOM6 HOVERGEN HBG050994 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050994&db=HOVERGEN HPA CAB020825 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB020825 HPA CAB040557 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB040557 InParanoid O00299 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O00299 IntAct O00299 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O00299* InterPro IPR002946 http://www.ebi.ac.uk/interpro/entry/IPR002946 InterPro IPR004045 http://www.ebi.ac.uk/interpro/entry/IPR004045 InterPro IPR010987 http://www.ebi.ac.uk/interpro/entry/IPR010987 InterPro IPR012336 http://www.ebi.ac.uk/interpro/entry/IPR012336 InterPro IPR030259 http://www.ebi.ac.uk/interpro/entry/IPR030259 Jabion 1192 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=1192 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:1192 http://www.genome.jp/dbget-bin/www_bget?hsa:1192 KEGG_Orthology KO:K05021 http://www.genome.jp/dbget-bin/www_bget?KO:K05021 MIM 602872 http://www.ncbi.nlm.nih.gov/omim/602872 MINT MINT-1033423 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1033423 OMA VCLKYRS http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=VCLKYRS OrthoDB EOG091G0IHT http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0IHT PANTHER PTHR11260:SF210 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11260:SF210 PDB 1K0M http://www.ebi.ac.uk/pdbe-srv/view/entry/1K0M PDB 1K0N http://www.ebi.ac.uk/pdbe-srv/view/entry/1K0N PDB 1K0O http://www.ebi.ac.uk/pdbe-srv/view/entry/1K0O PDB 1RK4 http://www.ebi.ac.uk/pdbe-srv/view/entry/1RK4 PDB 3O3T http://www.ebi.ac.uk/pdbe-srv/view/entry/3O3T PDB 3P8W http://www.ebi.ac.uk/pdbe-srv/view/entry/3P8W PDB 3P90 http://www.ebi.ac.uk/pdbe-srv/view/entry/3P90 PDB 3QR6 http://www.ebi.ac.uk/pdbe-srv/view/entry/3QR6 PDB 3SWL http://www.ebi.ac.uk/pdbe-srv/view/entry/3SWL PDB 3TGZ http://www.ebi.ac.uk/pdbe-srv/view/entry/3TGZ PDB 3UVH http://www.ebi.ac.uk/pdbe-srv/view/entry/3UVH PDB 4IQA http://www.ebi.ac.uk/pdbe-srv/view/entry/4IQA PDB 4JZQ http://www.ebi.ac.uk/pdbe-srv/view/entry/4JZQ PDB 4K0G http://www.ebi.ac.uk/pdbe-srv/view/entry/4K0G PDB 4K0N http://www.ebi.ac.uk/pdbe-srv/view/entry/4K0N PDBsum 1K0M http://www.ebi.ac.uk/pdbsum/1K0M PDBsum 1K0N http://www.ebi.ac.uk/pdbsum/1K0N PDBsum 1K0O http://www.ebi.ac.uk/pdbsum/1K0O PDBsum 1RK4 http://www.ebi.ac.uk/pdbsum/1RK4 PDBsum 3O3T http://www.ebi.ac.uk/pdbsum/3O3T PDBsum 3P8W http://www.ebi.ac.uk/pdbsum/3P8W PDBsum 3P90 http://www.ebi.ac.uk/pdbsum/3P90 PDBsum 3QR6 http://www.ebi.ac.uk/pdbsum/3QR6 PDBsum 3SWL http://www.ebi.ac.uk/pdbsum/3SWL PDBsum 3TGZ http://www.ebi.ac.uk/pdbsum/3TGZ PDBsum 3UVH http://www.ebi.ac.uk/pdbsum/3UVH PDBsum 4IQA http://www.ebi.ac.uk/pdbsum/4IQA PDBsum 4JZQ http://www.ebi.ac.uk/pdbsum/4JZQ PDBsum 4K0G http://www.ebi.ac.uk/pdbsum/4K0G PDBsum 4K0N http://www.ebi.ac.uk/pdbsum/4K0N PRINTS PR01263 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01263 PROSITE PS50405 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50405 PSORT swissprot:CLIC1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CLIC1_HUMAN PSORT-B swissprot:CLIC1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CLIC1_HUMAN PSORT2 swissprot:CLIC1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CLIC1_HUMAN Pfam PF13409 http://pfam.xfam.org/family/PF13409 PharmGKB PA26588 http://www.pharmgkb.org/do/serve?objId=PA26588&objCls=Gene Phobius swissprot:CLIC1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CLIC1_HUMAN PhylomeDB O00299 http://phylomedb.org/?seqid=O00299 ProteinModelPortal O00299 http://www.proteinmodelportal.org/query/uniprot/O00299 PubMed 10191309 http://www.ncbi.nlm.nih.gov/pubmed/10191309 PubMed 10384126 http://www.ncbi.nlm.nih.gov/pubmed/10384126 PubMed 10793131 http://www.ncbi.nlm.nih.gov/pubmed/10793131 PubMed 10834939 http://www.ncbi.nlm.nih.gov/pubmed/10834939 PubMed 11195932 http://www.ncbi.nlm.nih.gov/pubmed/11195932 PubMed 11551966 http://www.ncbi.nlm.nih.gov/pubmed/11551966 PubMed 11940526 http://www.ncbi.nlm.nih.gov/pubmed/11940526 PubMed 11978800 http://www.ncbi.nlm.nih.gov/pubmed/11978800 PubMed 12163479 http://www.ncbi.nlm.nih.gov/pubmed/12163479 PubMed 12681486 http://www.ncbi.nlm.nih.gov/pubmed/12681486 PubMed 14574404 http://www.ncbi.nlm.nih.gov/pubmed/14574404 PubMed 14613939 http://www.ncbi.nlm.nih.gov/pubmed/14613939 PubMed 14656967 http://www.ncbi.nlm.nih.gov/pubmed/14656967 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 18850721 http://www.ncbi.nlm.nih.gov/pubmed/18850721 PubMed 19413330 http://www.ncbi.nlm.nih.gov/pubmed/19413330 PubMed 19608861 http://www.ncbi.nlm.nih.gov/pubmed/19608861 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 22223895 http://www.ncbi.nlm.nih.gov/pubmed/22223895 PubMed 22814378 http://www.ncbi.nlm.nih.gov/pubmed/22814378 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 9139710 http://www.ncbi.nlm.nih.gov/pubmed/9139710 RefSeq NP_001274522 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001274522 RefSeq NP_001274523 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001274523 RefSeq NP_001279 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001279 SMR O00299 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=O00299 STRING 9606.ENSP00000364934 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000364934&targetmode=cogs SUPFAM SSF47616 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF47616 SUPFAM SSF52833 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52833 SWISS-2DPAGE O00299 http://world-2dpage.expasy.org/swiss-2dpage/protein/ac=O00299 TCDB 1.A.12.1 http://www.tcdb.org/search/result.php?tc=1.A.12.1 TIGRFAMs TIGR00862 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00862 UniGene Hs.414565 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.414565 UniProtKB CLIC1_HUMAN http://www.uniprot.org/uniprot/CLIC1_HUMAN UniProtKB-AC O00299 http://www.uniprot.org/uniprot/O00299 charge swissprot:CLIC1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CLIC1_HUMAN eggNOG ENOG410INGZ http://eggnogapi.embl.de/nog_data/html/tree/ENOG410INGZ eggNOG ENOG410ZZZX http://eggnogapi.embl.de/nog_data/html/tree/ENOG410ZZZX epestfind swissprot:CLIC1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CLIC1_HUMAN garnier swissprot:CLIC1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CLIC1_HUMAN helixturnhelix swissprot:CLIC1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CLIC1_HUMAN hmoment swissprot:CLIC1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CLIC1_HUMAN iep swissprot:CLIC1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CLIC1_HUMAN inforesidue swissprot:CLIC1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CLIC1_HUMAN neXtProt NX_O00299 http://www.nextprot.org/db/entry/NX_O00299 octanol swissprot:CLIC1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CLIC1_HUMAN pepcoil swissprot:CLIC1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CLIC1_HUMAN pepdigest swissprot:CLIC1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CLIC1_HUMAN pepinfo swissprot:CLIC1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CLIC1_HUMAN pepnet swissprot:CLIC1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CLIC1_HUMAN pepstats swissprot:CLIC1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CLIC1_HUMAN pepwheel swissprot:CLIC1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CLIC1_HUMAN pepwindow swissprot:CLIC1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CLIC1_HUMAN sigcleave swissprot:CLIC1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CLIC1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS MDR3_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=P21439-1; Sequence=Displayed; Name=2; IsoId=P21439-2; Sequence=VSP_023263; Name=3; IsoId=P21439-3; Sequence=VSP_046258, VSP_023263; Note=No experimental confirmation available. Gene prediction based on EST data.; # AltName ATP-binding cassette sub-family B member 4 {ECO:0000312|HGNC HGNC:45} # AltName Multidrug resistance protein 3 {ECO:0000303|PubMed 2892668} # AltName P-glycoprotein 3 {ECO:0000250|UniProtKB Q08201} # BioGrid 111263 2 # CATALYTIC ACTIVITY MDR3_HUMAN ATP + H(2)O + xenobiotic(In) = ADP + phosphate + xenobiotic(Out). # CCDS CCDS5605 -. [P21439-2] # CCDS CCDS5606 -. [P21439-1] # CCDS CCDS5607 -. [P21439-3] # DISEASE MDR3_HUMAN Cholestasis of pregnancy, intrahepatic 3 (ICP3) [MIM 614972] A liver disorder of pregnancy. It presents during the second or, more commonly, the third trimester of pregnancy with intense pruritus which becomes more severe with advancing gestation and cholestasis. It causes fetal distress, spontaneous premature delivery and intrauterine death. Patients have spontaneous and progressive disappearance of cholestasis after delivery. Cholestasis results from abnormal biliary transport from the liver into the small intestine. {ECO 0000269|PubMed 10767346, ECO 0000269|PubMed 12746424, ECO 0000269|PubMed 15077010}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE MDR3_HUMAN Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM 602347] A disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. {ECO 0000269|PubMed 11313315, ECO 0000269|PubMed 12671900, ECO 0000269|PubMed 17726488, ECO 0000269|PubMed 21119540, ECO 0000269|PubMed 24045840, ECO 0000269|PubMed 24594635, ECO 0000269|PubMed 24806754, ECO 0000269|PubMed 9419367}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE MDR3_HUMAN Gallbladder disease 1 (GBD1) [MIM 600803] One of the major digestive diseases. Gallstones composed of cholesterol (cholelithiasis) are the common manifestations in western countries. Most people with gallstones, however, remain asymptomatic through their lifetimes. {ECO 0000269|PubMed 11313316, ECO 0000269|PubMed 12891548, ECO 0000269|PubMed 22331132, ECO 0000269|PubMed 23533021, ECO 0000269|PubMed 24723470, ECO 0000269|Ref.2}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DrugBank DB01394 Colchicine # DrugBank DB06207 Silodosin # DrugBank DB06414 Etravirine # ENZYME REGULATION MDR3_HUMAN Translocation activity is inhibited by the ATPase inhibitor vanadate and the calcium channel blocker verapamil (PubMed 17523162, PubMed 23468132). Translocation activity is enhanced by the addition of the bile salt taurocholate (PubMed 17523162, PubMed 23468132). {ECO 0000269|PubMed 17523162, ECO 0000269|PubMed 23468132}. # Ensembl ENST00000265723 ENSP00000265723; ENSG00000005471. [P21439-1] # Ensembl ENST00000358400 ENSP00000351172; ENSG00000005471. [P21439-3] # Ensembl ENST00000359206 ENSP00000352135; ENSG00000005471. [P21439-2] # Ensembl ENST00000453593 ENSP00000392983; ENSG00000005471. [P21439-3] # ExpressionAtlas P21439 baseline and differential # FUNCTION MDR3_HUMAN Energy-dependent phospholipid efflux translocator that acts as a positive regulator of biliary lipid secretion. Functions as a floppase that translocates specifically phosphatidylcholine (PC) from the inner to the outer leaflet of the canalicular membrane bilayer into the canaliculi of hepatocytes. Translocation of PC makes the biliary phospholipids available for extraction into the canaliculi lumen by bile salt mixed micelles and therefore protects the biliary tree from the detergent activity of bile salts (PubMed 7957936, PubMed 8898203, PubMed 9366571, PubMed 17523162, PubMed 23468132, PubMed 24806754, PubMed 24723470, PubMed 24594635, PubMed 21820390). Plays a role in the recruitment of phosphatidylcholine (PC), phosphatidylethanolamine (PE) and sphingomyelin (SM) molecules to nonraft membranes and to fu rther enrichment of SM and cholesterol in raft membranes in hepatocytes (PubMed 23468132). Required for proper phospholipid bile formation (By similarity). Indirectly involved in cholesterol efflux activity from hepatocytes into the canalicular lumen in the presence of bile salts in an ATP- dependent manner (PubMed 24045840). May promote biliary phospholipid secretion as canaliculi-containing vesicles from the canalicular plasma membrane (PubMed 9366571). In cooperation with ATP8B1, functions to protect hepatocytes from the deleterious detergent activity of bile salts (PubMed 21820390). Does not confer multidrug resistance (By similarity). {ECO 0000250|UniProtKB P21440, ECO 0000269|PubMed 17523162, ECO 0000269|PubMed 21820390, ECO 0000269|PubMed 23468132, ECO 0000269|PubMed 24045840, ECO 0000269|PubMed 24594635, ECO 0000269|PubMed 24723470, ECO 0000269|PubMed 24806754, ECO 0000269|PubMed 7957936, ECO 0000269|PubMed 8898203, ECO 0000269|PubMed 9366571}. # GO_component GO:0005737 cytoplasm; IDA:UniProtKB. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0016020 membrane; TAS:ProtInc. # GO_component GO:0016324 apical plasma membrane; IDA:UniProtKB. # GO_component GO:0030136 clathrin-coated vesicle; IEA:UniProtKB-SubCell. # GO_component GO:0045121 membrane raft; IEA:UniProtKB-SubCell. # GO_component GO:0046581 intercellular canaliculus; IEA:Ensembl. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0005524 ATP binding; IEA:UniProtKB-KW. # GO_function GO:0005548 phospholipid transporter activity; TAS:Reactome. # GO_function GO:0008525 phosphatidylcholine transporter activity; IDA:UniProtKB. # GO_function GO:0008559 xenobiotic-transporting ATPase activity; IEA:UniProtKB-EC. # GO_function GO:0042626 ATPase activity, coupled to transmembrane movement of substances; IDA:UniProtKB. # GO_function GO:0090554 phosphatidylcholine-translocating ATPase activity; IDA:UniProtKB. # GO_process GO:0002481 antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent; IBA:GO_Central. # GO_process GO:0002485 antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent; IBA:GO_Central. # GO_process GO:0002489 antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent; IBA:GO_Central. # GO_process GO:0002591 positive regulation of antigen processing and presentation of peptide antigen via MHC class I; IBA:GO_Central. # GO_process GO:0006629 lipid metabolic process; TAS:ProtInc. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0032376 positive regulation of cholesterol transport; IDA:UniProtKB. # GO_process GO:0032782 bile acid secretion; ISS:UniProtKB. # GO_process GO:0042493 response to drug; TAS:ProtInc. # GO_process GO:0045332 phospholipid translocation; IMP:UniProtKB. # GO_process GO:0055085 transmembrane transport; TAS:Reactome. # GO_process GO:0055088 lipid homeostasis; IDA:UniProtKB. # GO_process GO:0061092 positive regulation of phospholipid translocation; IDA:UniProtKB. # GO_process GO:1901557 response to fenofibrate; ISS:UniProtKB. # GO_process GO:1903413 cellular response to bile acid; IDA:UniProtKB. # GO_process GO:2001140 positive regulation of phospholipid transport; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0031410 cytoplasmic vesicle # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0002376 immune system process # GOslim_process GO:0006629 lipid metabolic process # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # GOslim_process GO:0061024 membrane organization # Gene3D 3.40.50.300 -; 2. # Genevisible P21439 HS # HGNC HGNC:45 ABCB4 # INDUCTION MDR3_HUMAN Up-regulated by PPARA (PubMed 24122873). Up-regulated by compounds that cause peroxisome proliferation, such as fenofibrate (at protein level). Up-regulated by bezafibrate (PubMed 15258199). Up-regulated by compounds that cause peroxisome proliferation, such as fenofibrate, bezafibrate and gemfibrozil (PubMed 24122873). {ECO 0000269|PubMed 15258199, ECO 0000269|PubMed 24122873}. # IntAct P21439 3 # InterPro IPR003439 ABC_transporter-like # InterPro IPR003593 AAA+_ATPase # InterPro IPR011527 ABC1_TM_dom # InterPro IPR017871 ABC_transporter_CS # InterPro IPR027417 P-loop_NTPase # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02000 Transporters # KEGG_Disease H00624 [Inherited metabolic disease; Liver disease] North American Indian childhood cirrhosis (NAIC) # KEGG_Disease H01213 [Digestive disease] Cholelithiasis # KEGG_Pathway ko02010 ABC transporters # KEGG_Pathway ko04976 Bile secretion # MIM 171060 gene # MIM 600803 phenotype # MIM 602347 phenotype # MIM 614972 phenotype # Organism MDR3_HUMAN Homo sapiens (Human) # Orphanet 69663 Low phospholipid associated cholelithiasis # Orphanet 69665 Intrahepatic cholestasis of pregnancy # Orphanet 79305 Progressive familial intrahepatic cholestasis type 3 # PIR JS0051 DVHU3 # PROSITE PS00211 ABC_TRANSPORTER_1; 2 # PROSITE PS50893 ABC_TRANSPORTER_2; 2 # PROSITE PS50929 ABC_TM1F; 2 # PTM MDR3_HUMAN Glycosylated (PubMed 17523162, PubMed 24723470, PubMed 21820390). {ECO 0000269|PubMed 17523162, ECO 0000269|PubMed 21820390, ECO 0000269|PubMed 24723470}. # PTM MDR3_HUMAN Phosphorylated (PubMed 24723470). Phosphorylation on Thr-34 is required for PC efflux activity. Phosphorylation occurs on serine and threonine residues in a protein kinase A- or C- dependent manner (PubMed 24723470). May be phosphorylated on Thr- 44 and Ser-49 (PubMed 24723470). {ECO 0000269|PubMed 24723470}. # Pfam PF00005 ABC_tran; 2 # Pfam PF00664 ABC_membrane; 2 # Proteomes UP000005640 Chromosome 7 # Reactome R-HSA-1989781 PPARA activates gene expression # Reactome R-HSA-382556 ABC-family proteins mediated transport # RecName Phosphatidylcholine translocator ABCB4 {ECO 0000305} # RefSeq NP_000434 NM_000443.3. [P21439-2] # RefSeq NP_061337 NM_018849.2. [P21439-1] # RefSeq NP_061338 NM_018850.2. [P21439-3] # RefSeq XP_011514615 XM_011516313.2. [P21439-3] # SEQUENCE CAUTION Sequence=CAA84542.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the ABC transporter superfamily. ABCB family. Multidrug resistance exporter (TC 3.A.1.201) subfamily. {ECO 0000305}. # SIMILARITY Contains 2 ABC transmembrane type-1 domains. {ECO:0000255|PROSITE-ProRule PRU00441}. # SIMILARITY Contains 2 ABC transporter domains. {ECO:0000255|PROSITE-ProRule PRU00434}. # SMART SM00382 AAA; 2 # SUBCELLULAR LOCATION MDR3_HUMAN Cell membrane {ECO 0000269|PubMed 23468132, ECO 0000269|PubMed 24045840, ECO 0000269|PubMed 24806754}; Multi- pass membrane protein {ECO 0000255|PROSITE-ProRule PRU00441}. Apical cell membrane {ECO 0000269|PubMed 15258199, ECO 0000269|PubMed 19674157, ECO 0000269|PubMed 21820390, ECO 0000269|PubMed 24122873, ECO 0000269|PubMed 24594635, ECO 0000269|PubMed 24723470, ECO 0000269|PubMed 8898203}; Multi- pass membrane protein {ECO 0000255|PROSITE-ProRule PRU00441}. Membrane raft {ECO 0000269|PubMed 23468132}. Cytoplasm {ECO 0000269|PubMed 24045840}. Cytoplasmic vesicle, clathrin- coated vesicle {ECO 0000250|UniProtKB Q08201}. Note=Localized at the apical canalicular membrane of the epithelial cells lining the lumen of the bile canaliculi and biliary ductules (By similarity). Transported from the Golgi to the apical bile canalicular membrane in a RACK1-dependent manner (PubMed 19674157). Redistributed into pseudocanaliculi formed between cells in a bezafibrate- or PPARA- dependent manner (PubMed 15258199). Localized preferentially in lipid nonraft domains of canalicular plasma membranes (PubMed 23468132). {ECO 0000250|UniProtKB P21440, ECO 0000269|PubMed 15258199, ECO 0000269|PubMed 19674157, ECO 0000269|PubMed 23468132}. # SUBUNIT MDR3_HUMAN May interact with RACK1 (PubMed 19674157). Interacts with HAX1 (By similarity). {ECO 0000250|UniProtKB Q08201, ECO 0000269|PubMed 19674157}. # SUPFAM SSF52540 SSF52540; 2 # SUPFAM SSF90123 SSF90123; 2 # TCDB 3.A.1.201 the atp-binding cassette (abc) superfamily # UCSC uc003uiv human. [P21439-1] # WEB RESOURCE MDR3_HUMAN Name=ABCMdb; Note=Database for mutations in ABC proteins; URL="http //abcmutations.hegelab.org/proteinDetails?uniprot_id=P21439"; # WEB RESOURCE MDR3_HUMAN Name=NIEHS-SNPs; URL="http //egp.gs.washington.edu/data/abcb4/"; # eggNOG COG1132 LUCA # eggNOG KOG0055 Eukaryota BLAST swissprot:MDR3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:MDR3_HUMAN BioCyc ZFISH:HS00144-MONOMER http://biocyc.org/getid?id=ZFISH:HS00144-MONOMER COXPRESdb 5244 http://coxpresdb.jp/data/gene/5244.shtml CleanEx HS_ABCB4 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ABCB4 DOI 10.1002/hep.21591 http://dx.doi.org/10.1002/hep.21591 DOI 10.1002/hep.26424 http://dx.doi.org/10.1002/hep.26424 DOI 10.1002/hep.26894 http://dx.doi.org/10.1002/hep.26894 DOI 10.1002/hep.26970 http://dx.doi.org/10.1002/hep.26970 DOI 10.1002/hep.27170 http://dx.doi.org/10.1002/hep.27170 DOI 10.1007/s00428-012-1202-6 http://dx.doi.org/10.1007/s00428-012-1202-6 DOI 10.1016/0014-5793(94)01135-4 http://dx.doi.org/10.1016/0014-5793(94)01135-4 DOI 10.1016/0167-4781(94)00214-N http://dx.doi.org/10.1016/0167-4781(94)00214-N DOI 10.1016/0378-1119(88)90057-1 http://dx.doi.org/10.1016/0378-1119(88)90057-1 DOI 10.1016/S0016-5085(03)00898-9 http://dx.doi.org/10.1016/S0016-5085(03)00898-9 DOI 10.1016/S0092-8674(00)81370-7 http://dx.doi.org/10.1016/S0092-8674(00)81370-7 DOI 10.1016/j.dld.2008.12.101 http://dx.doi.org/10.1016/j.dld.2008.12.101 DOI 10.1038/ejhg.2013.214 http://dx.doi.org/10.1038/ejhg.2013.214 DOI 10.1038/nature01782 http://dx.doi.org/10.1038/nature01782 DOI 10.1038/sj.ejhg.5201908 http://dx.doi.org/10.1038/sj.ejhg.5201908 DOI 10.1053/gast.2001.23947 http://dx.doi.org/10.1053/gast.2001.23947 DOI 10.1053/gast.2001.23984 http://dx.doi.org/10.1053/gast.2001.23984 DOI 10.1053/gast.2003.50144 http://dx.doi.org/10.1053/gast.2003.50144 DOI 10.1053/j.gastro.2011.07.042 http://dx.doi.org/10.1053/j.gastro.2011.07.042 DOI 10.1073/pnas.95.1.282 http://dx.doi.org/10.1073/pnas.95.1.282 DOI 10.1093/hmg/9.8.1209 http://dx.doi.org/10.1093/hmg/9.8.1209 DOI 10.1097/00008571-200402000-00003 http://dx.doi.org/10.1097/00008571-200402000-00003 DOI 10.1097/01.fpc.0000230418.28091.76 http://dx.doi.org/10.1097/01.fpc.0000230418.28091.76 DOI 10.1097/MPG.0b013e3181f50363 http://dx.doi.org/10.1097/MPG.0b013e3181f50363 DOI 10.1111/j.1872-034X.2009.00544.x http://dx.doi.org/10.1111/j.1872-034X.2009.00544.x DOI 10.1124/dmd.105.008854 http://dx.doi.org/10.1124/dmd.105.008854 DOI 10.1126/science.1083423 http://dx.doi.org/10.1126/science.1083423 DOI 10.1136/gutjnl-2014-306896 http://dx.doi.org/10.1136/gutjnl-2014-306896 DOI 10.1136/jmg.40.5.e70 http://dx.doi.org/10.1136/jmg.40.5.e70 DOI 10.1172/JCI119799 http://dx.doi.org/10.1172/JCI119799 DOI 10.1194/jlr.M032425 http://dx.doi.org/10.1194/jlr.M032425 DOI 10.1194/jlr.M400132-JLR200 http://dx.doi.org/10.1194/jlr.M400132-JLR200 DrugBank DB01394 http://www.drugbank.ca/drugs/DB01394 DrugBank DB06207 http://www.drugbank.ca/drugs/DB06207 DrugBank DB06414 http://www.drugbank.ca/drugs/DB06414 EC_number EC:3.6.3.44 http://www.genome.jp/dbget-bin/www_bget?EC:3.6.3.44 EMBL AC005045 http://www.ebi.ac.uk/ena/data/view/AC005045 EMBL AC005068 http://www.ebi.ac.uk/ena/data/view/AC005068 EMBL AC006154 http://www.ebi.ac.uk/ena/data/view/AC006154 EMBL CH236949 http://www.ebi.ac.uk/ena/data/view/CH236949 EMBL CH236949 http://www.ebi.ac.uk/ena/data/view/CH236949 EMBL CH236949 http://www.ebi.ac.uk/ena/data/view/CH236949 EMBL CH471091 http://www.ebi.ac.uk/ena/data/view/CH471091 EMBL CH471091 http://www.ebi.ac.uk/ena/data/view/CH471091 EMBL CH471091 http://www.ebi.ac.uk/ena/data/view/CH471091 EMBL CH471091 http://www.ebi.ac.uk/ena/data/view/CH471091 EMBL CH471091 http://www.ebi.ac.uk/ena/data/view/CH471091 EMBL CH471091 http://www.ebi.ac.uk/ena/data/view/CH471091 EMBL EF034088 http://www.ebi.ac.uk/ena/data/view/EF034088 EMBL M23234 http://www.ebi.ac.uk/ena/data/view/M23234 EMBL X06181 http://www.ebi.ac.uk/ena/data/view/X06181 EMBL Z35284 http://www.ebi.ac.uk/ena/data/view/Z35284 ENZYME 3.6.3.44 http://enzyme.expasy.org/EC/3.6.3.44 Ensembl ENST00000265723 http://www.ensembl.org/id/ENST00000265723 Ensembl ENST00000358400 http://www.ensembl.org/id/ENST00000358400 Ensembl ENST00000359206 http://www.ensembl.org/id/ENST00000359206 Ensembl ENST00000453593 http://www.ensembl.org/id/ENST00000453593 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:0030136 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030136 GO_component GO:0045121 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045121 GO_component GO:0046581 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046581 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0005548 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005548 GO_function GO:0008525 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008525 GO_function GO:0008559 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008559 GO_function GO:0042626 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042626 GO_function GO:0090554 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090554 GO_process GO:0002481 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002481 GO_process GO:0002485 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002485 GO_process GO:0002489 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002489 GO_process GO:0002591 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002591 GO_process GO:0006629 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006629 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0032376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032376 GO_process GO:0032782 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032782 GO_process GO:0042493 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042493 GO_process GO:0045332 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045332 GO_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GO_process GO:0055088 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055088 GO_process GO:0061092 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061092 GO_process GO:1901557 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1901557 GO_process GO:1903413 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903413 GO_process GO:2001140 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2001140 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0031410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0002376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002376 GOslim_process GO:0006629 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006629 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GOslim_process GO:0061024 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061024 Gene3D 3.40.50.300 http://www.cathdb.info/version/latest/superfamily/3.40.50.300 GeneCards ABCB4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ABCB4 GeneID 5244 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=5244 GeneTree ENSGT00530000062896 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000062896 HGNC HGNC:45 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:45 HOVERGEN HBG080809 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG080809&db=HOVERGEN HPA HPA049395 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA049395 HPA HPA053288 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA053288 InParanoid P21439 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P21439 IntAct P21439 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P21439* IntEnz 3.6.3.44 http://www.ebi.ac.uk/intenz/query?cmd=Search&q=3.6.3.44 InterPro IPR003439 http://www.ebi.ac.uk/interpro/entry/IPR003439 InterPro IPR003593 http://www.ebi.ac.uk/interpro/entry/IPR003593 InterPro IPR011527 http://www.ebi.ac.uk/interpro/entry/IPR011527 InterPro IPR017871 http://www.ebi.ac.uk/interpro/entry/IPR017871 InterPro IPR027417 http://www.ebi.ac.uk/interpro/entry/IPR027417 Jabion 5244 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=5244 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Disease H00624 http://www.genome.jp/dbget-bin/www_bget?H00624 KEGG_Disease H01213 http://www.genome.jp/dbget-bin/www_bget?H01213 KEGG_Gene hsa:5244 http://www.genome.jp/dbget-bin/www_bget?hsa:5244 KEGG_Orthology KO:K05659 http://www.genome.jp/dbget-bin/www_bget?KO:K05659 KEGG_Pathway ko02010 http://www.genome.jp/kegg-bin/show_pathway?ko02010 KEGG_Pathway ko04976 http://www.genome.jp/kegg-bin/show_pathway?ko04976 MIM 171060 http://www.ncbi.nlm.nih.gov/omim/171060 MIM 600803 http://www.ncbi.nlm.nih.gov/omim/600803 MIM 602347 http://www.ncbi.nlm.nih.gov/omim/602347 MIM 614972 http://www.ncbi.nlm.nih.gov/omim/614972 OMA SEDANYQ http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=SEDANYQ Orphanet 69663 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=69663 Orphanet 69665 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=69665 Orphanet 79305 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=79305 OrthoDB EOG091G0HVA http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0HVA PROSITE PS00211 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00211 PROSITE PS50893 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50893 PROSITE PS50929 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50929 PSORT swissprot:MDR3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:MDR3_HUMAN PSORT-B swissprot:MDR3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:MDR3_HUMAN PSORT2 swissprot:MDR3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:MDR3_HUMAN Pfam PF00005 http://pfam.xfam.org/family/PF00005 Pfam PF00664 http://pfam.xfam.org/family/PF00664 PharmGKB PA268 http://www.pharmgkb.org/do/serve?objId=PA268&objCls=Gene Phobius swissprot:MDR3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:MDR3_HUMAN PhylomeDB P21439 http://phylomedb.org/?seqid=P21439 ProteinModelPortal P21439 http://www.proteinmodelportal.org/query/uniprot/P21439 PubMed 10767346 http://www.ncbi.nlm.nih.gov/pubmed/10767346 PubMed 11313315 http://www.ncbi.nlm.nih.gov/pubmed/11313315 PubMed 11313316 http://www.ncbi.nlm.nih.gov/pubmed/11313316 PubMed 12671900 http://www.ncbi.nlm.nih.gov/pubmed/12671900 PubMed 12690205 http://www.ncbi.nlm.nih.gov/pubmed/12690205 PubMed 12746424 http://www.ncbi.nlm.nih.gov/pubmed/12746424 PubMed 12853948 http://www.ncbi.nlm.nih.gov/pubmed/12853948 PubMed 12891548 http://www.ncbi.nlm.nih.gov/pubmed/12891548 PubMed 15077010 http://www.ncbi.nlm.nih.gov/pubmed/15077010 PubMed 15258199 http://www.ncbi.nlm.nih.gov/pubmed/15258199 PubMed 16763017 http://www.ncbi.nlm.nih.gov/pubmed/16763017 PubMed 17264802 http://www.ncbi.nlm.nih.gov/pubmed/17264802 PubMed 17523162 http://www.ncbi.nlm.nih.gov/pubmed/17523162 PubMed 17726488 http://www.ncbi.nlm.nih.gov/pubmed/17726488 PubMed 19261551 http://www.ncbi.nlm.nih.gov/pubmed/19261551 PubMed 19674157 http://www.ncbi.nlm.nih.gov/pubmed/19674157 PubMed 2002063 http://www.ncbi.nlm.nih.gov/pubmed/2002063 PubMed 21119540 http://www.ncbi.nlm.nih.gov/pubmed/21119540 PubMed 21820390 http://www.ncbi.nlm.nih.gov/pubmed/21820390 PubMed 22331132 http://www.ncbi.nlm.nih.gov/pubmed/22331132 PubMed 23468132 http://www.ncbi.nlm.nih.gov/pubmed/23468132 PubMed 23533021 http://www.ncbi.nlm.nih.gov/pubmed/23533021 PubMed 24045840 http://www.ncbi.nlm.nih.gov/pubmed/24045840 PubMed 24122873 http://www.ncbi.nlm.nih.gov/pubmed/24122873 PubMed 24594635 http://www.ncbi.nlm.nih.gov/pubmed/24594635 PubMed 24723470 http://www.ncbi.nlm.nih.gov/pubmed/24723470 PubMed 24806754 http://www.ncbi.nlm.nih.gov/pubmed/24806754 PubMed 2892668 http://www.ncbi.nlm.nih.gov/pubmed/2892668 PubMed 2906314 http://www.ncbi.nlm.nih.gov/pubmed/2906314 PubMed 7893760 http://www.ncbi.nlm.nih.gov/pubmed/7893760 PubMed 7957936 http://www.ncbi.nlm.nih.gov/pubmed/7957936 PubMed 8898203 http://www.ncbi.nlm.nih.gov/pubmed/8898203 PubMed 9366571 http://www.ncbi.nlm.nih.gov/pubmed/9366571 PubMed 9419367 http://www.ncbi.nlm.nih.gov/pubmed/9419367 Reactome R-HSA-1989781 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1989781 Reactome R-HSA-382556 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-382556 RefSeq NP_000434 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000434 RefSeq NP_061337 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_061337 RefSeq NP_061338 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_061338 RefSeq XP_011514615 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011514615 SMART SM00382 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00382 SMR P21439 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P21439 STRING 9606.ENSP00000265723 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000265723&targetmode=cogs SUPFAM SSF52540 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52540 SUPFAM SSF90123 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF90123 TCDB 3.A.1.201 http://www.tcdb.org/search/result.php?tc=3.A.1.201 UCSC uc003uiv http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003uiv&org=rat UniGene Hs.654403 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.654403 UniProtKB MDR3_HUMAN http://www.uniprot.org/uniprot/MDR3_HUMAN UniProtKB-AC P21439 http://www.uniprot.org/uniprot/P21439 charge swissprot:MDR3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:MDR3_HUMAN eggNOG COG1132 http://eggnogapi.embl.de/nog_data/html/tree/COG1132 eggNOG KOG0055 http://eggnogapi.embl.de/nog_data/html/tree/KOG0055 epestfind swissprot:MDR3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:MDR3_HUMAN garnier swissprot:MDR3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:MDR3_HUMAN helixturnhelix swissprot:MDR3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:MDR3_HUMAN hmoment swissprot:MDR3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:MDR3_HUMAN iep swissprot:MDR3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:MDR3_HUMAN inforesidue swissprot:MDR3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:MDR3_HUMAN neXtProt NX_P21439 http://www.nextprot.org/db/entry/NX_P21439 octanol swissprot:MDR3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:MDR3_HUMAN pepcoil swissprot:MDR3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:MDR3_HUMAN pepdigest swissprot:MDR3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:MDR3_HUMAN pepinfo swissprot:MDR3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:MDR3_HUMAN pepnet swissprot:MDR3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:MDR3_HUMAN pepstats swissprot:MDR3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:MDR3_HUMAN pepwheel swissprot:MDR3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:MDR3_HUMAN pepwindow swissprot:MDR3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:MDR3_HUMAN sigcleave swissprot:MDR3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:MDR3_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS AT2C1_HUMAN Event=Alternative splicing; Named isoforms=9; Comment=Isoform 1 and isoform 2 are expressed in the same tissues.; Name=1; Synonyms=ATP2C1A; IsoId=P98194-1; Sequence=Displayed; Name=2; Synonyms=ATP2C1B, ATP2C1C; IsoId=P98194-2; Sequence=VSP_000409; Name=3; Synonyms=ATP2C1B; IsoId=P98194-3; Sequence=VSP_000408, VSP_000410; Name=4; Synonyms=ATP2C1A; IsoId=P98194-4; Sequence=VSP_000408; Name=5; Synonyms=ATP2C1B; IsoId=P98194-5; Sequence=VSP_000410; Name=6; Synonyms=ATP2C1D; IsoId=P98194-6; Sequence=VSP_014102; Name=7; IsoId=P98194-7; Sequence=VSP_045892, VSP_000410; Note=No experimental confirmation available.; Name=8; IsoId=P98194-8; Sequence=VSP_045892, VSP_055036, VSP_055037; Note=No experimental confirmation available.; Name=9; IsoId=P98194-9; Sequence=VSP_055037; Note=No experimental confirmation available.; # AltName AT2C1_HUMAN ATP-dependent Ca(2+) pump PMR1 # BRENDA 3.6.3 2681 # BioGrid 117963 15 # CATALYTIC ACTIVITY AT2C1_HUMAN ATP + H(2)O + Ca(2+)(Side 1) = ADP + phosphate + Ca(2+)(Side 2). # CCDS CCDS33856 -. [P98194-9] # CCDS CCDS46912 -. [P98194-5] # CCDS CCDS46913 -. [P98194-2] # CCDS CCDS46914 -. [P98194-1] # CCDS CCDS56278 -. [P98194-7] # CCDS CCDS56279 -. [P98194-8] # CCDS CCDS56280 -. [P98194-3] # CCDS CCDS56281 -. [P98194-4] # ChiTaRS ATP2C1 human # DISEASE AT2C1_HUMAN Hailey-Hailey disease (HHD) [MIM 169600] Autosomal dominant disorder characterized by persistent blisters and suprabasal cell separation (acantholysis) of the epidermis, due to impaired keratinocyte adhesion. Patients lacking all isoforms except isoform 2 have HHD. {ECO 0000269|PubMed 10615129, ECO 0000269|PubMed 10767338, ECO 0000269|PubMed 11841554, ECO 0000269|PubMed 11874499}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DrugBank DB00228 Enflurane # DrugBank DB00753 Isoflurane # DrugBank DB01028 Methoxyflurane # DrugBank DB01159 Halothane # DrugBank DB01189 Desflurane # DrugBank DB01236 Sevoflurane # Ensembl ENST00000328560 ENSP00000329664; ENSG00000017260. [P98194-2] # Ensembl ENST00000359644 ENSP00000352665; ENSG00000017260. [P98194-9] # Ensembl ENST00000422190 ENSP00000402677; ENSG00000017260. [P98194-5] # Ensembl ENST00000428331 ENSP00000395809; ENSG00000017260. [P98194-1] # Ensembl ENST00000504381 ENSP00000425320; ENSG00000017260. [P98194-8] # Ensembl ENST00000504948 ENSP00000423330; ENSG00000017260. [P98194-4] # Ensembl ENST00000507488 ENSP00000421326; ENSG00000017260. [P98194-7] # Ensembl ENST00000508532 ENSP00000424783; ENSG00000017260. [P98194-1] # Ensembl ENST00000510168 ENSP00000427461; ENSG00000017260. [P98194-1] # Ensembl ENST00000513801 ENSP00000422872; ENSG00000017260. [P98194-3] # Ensembl ENST00000533801 ENSP00000432956; ENSG00000017260. [P98194-2] # ExpressionAtlas P98194 baseline and differential # FUNCTION AT2C1_HUMAN This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of the calcium. # GO_component GO:0000139 Golgi membrane; IDA:UniProtKB. # GO_component GO:0005794 Golgi apparatus; IDA:UniProtKB. # GO_component GO:0005802 trans-Golgi network; IDA:UniProtKB. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; NAS:UniProtKB. # GO_function GO:0004871 signal transducer activity; IMP:UniProtKB. # GO_function GO:0005388 calcium-transporting ATPase activity; IDA:UniProtKB. # GO_function GO:0005509 calcium ion binding; IDA:UniProtKB. # GO_function GO:0005524 ATP binding; IDA:UniProtKB. # GO_function GO:0015410 manganese-transporting ATPase activity; IDA:UniProtKB. # GO_function GO:0030145 manganese ion binding; IDA:UniProtKB. # GO_function GO:0046872 metal ion binding; IEA:UniProtKB-KW. # GO_process GO:0006816 calcium ion transport; IDA:UniProtKB. # GO_process GO:0006828 manganese ion transport; IDA:UniProtKB. # GO_process GO:0006874 cellular calcium ion homeostasis; IDA:UniProtKB. # GO_process GO:0008544 epidermis development; IMP:UniProtKB. # GO_process GO:0016339 calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules; IMP:UniProtKB. # GO_process GO:0030026 cellular manganese ion homeostasis; IDA:UniProtKB. # GO_process GO:0031532 actin cytoskeleton reorganization; IMP:UniProtKB. # GO_process GO:0032468 Golgi calcium ion homeostasis; IMP:UniProtKB. # GO_process GO:0032472 Golgi calcium ion transport; IMP:UniProtKB. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling; IMP:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005794 Golgi apparatus # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0007010 cytoskeleton organization # GOslim_process GO:0007155 cell adhesion # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.20.1110.10 -; 3. # Genevisible P98194 HS # HGNC HGNC:13211 ATP2C1 # IntAct P98194 18 # InterPro IPR001757 P_typ_ATPase # InterPro IPR004014 ATPase_P-typ_cation-transptr_N # InterPro IPR006068 ATPase_P-typ_cation-transptr_C # InterPro IPR006413 P-type_ATPase_IIA_PMR1 # InterPro IPR008250 ATPase_P-typ_transduc_dom_A # InterPro IPR018303 ATPase_P-typ_P_site # InterPro IPR023214 HAD-like_dom # InterPro IPR023298 ATPase_P-typ_TM_dom # InterPro IPR030336 ATP2C1 # KEGG_Brite ko01000 Enzymes # KEGG_Disease H00844 [Developmental disorder; Skin and connective tissue disease] Hailey-Hailey disease # MIM 169600 phenotype # MIM 604384 gene # Organism AT2C1_HUMAN Homo sapiens (Human) # Orphanet 2841 Familial benign chronic pemphigus # PANTHER PTHR24093:SF214 PTHR24093:SF214 # PRINTS PR00120 HATPASE # PROSITE PS00154 ATPASE_E1_E2 # Pfam PF00122 E1-E2_ATPase # Pfam PF00689 Cation_ATPase_C # Pfam PF00690 Cation_ATPase_N # Proteomes UP000005640 Chromosome 3 # Reactome R-HSA-936837 Ion transport by P-type ATPases # RecName AT2C1_HUMAN Calcium-transporting ATPase type 2C member 1 # RefSeq NP_001001485 NM_001001485.2. [P98194-2] # RefSeq NP_001001486 NM_001001486.1. [P98194-9] # RefSeq NP_001001487 NM_001001487.1. [P98194-5] # RefSeq NP_001186108 NM_001199179.1. [P98194-1] # RefSeq NP_001186109 NM_001199180.1. [P98194-7] # RefSeq NP_001186110 NM_001199181.1 # RefSeq NP_001186111 NM_001199182.1. [P98194-8] # RefSeq NP_001186112 NM_001199183.1. [P98194-3] # RefSeq NP_001186113 NM_001199184.1. [P98194-4] # RefSeq NP_001186114 NM_001199185.1. [P98194-2] # RefSeq NP_055197 NM_014382.3. [P98194-1] # RefSeq XP_005247412 XM_005247355.2. [P98194-9] # RefSeq XP_005247413 XM_005247356.2. [P98194-9] # RefSeq XP_016861653 XM_017006164.1. [P98194-5] # SEQUENCE CAUTION Sequence=BAA92585.1; Type=Frameshift; Positions=8; Evidence={ECO:0000305}; Sequence=BAC11142.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIA subfamily. {ECO 0000305}. # SMART SM00831 Cation_ATPase_N # SUBCELLULAR LOCATION AT2C1_HUMAN Golgi apparatus membrane {ECO 0000269|PubMed 12707275}; Multi-pass membrane protein {ECO 0000269|PubMed 12707275}. # SUPFAM SSF56784 SSF56784; 2 # TCDB 3.A.3.2 the p-type atpase (p-atpase) superfamily # TIGRFAMs TIGR01494 ATPase_P-type; 3 # TIGRFAMs TIGR01522 ATPase-IIA2_Ca # TISSUE SPECIFICITY AT2C1_HUMAN Found in most tissues except colon, thymus, spleen and leukocytes. Most abundant in keratinocytes and kidney. # UCSC uc003enk human. [P98194-1] # eggNOG COG0474 LUCA # eggNOG KOG0202 Eukaryota BLAST swissprot:AT2C1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:AT2C1_HUMAN BioCyc ZFISH:HS00380-MONOMER http://biocyc.org/getid?id=ZFISH:HS00380-MONOMER COG COG0474 http://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=COG0474 COXPRESdb 27032 http://coxpresdb.jp/data/gene/27032.shtml CleanEx HS_ATP2C1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ATP2C1 DOI 10.1002/1097-0061(200101)18:1<69::AID-YEA647>3.0.CO http://dx.doi.org/10.1002/1097-0061(200101)18:1<69::AID-YEA647>3.0.CO DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/71701 http://dx.doi.org/10.1038/71701 DOI 10.1038/nature04728 http://dx.doi.org/10.1038/nature04728 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1046/j.0022-202x.2001.01675.x http://dx.doi.org/10.1046/j.0022-202x.2001.01675.x DOI 10.1046/j.0022-202x.2001.01686.x http://dx.doi.org/10.1046/j.0022-202x.2001.01686.x DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1074/jbc.M300509200 http://dx.doi.org/10.1074/jbc.M300509200 DOI 10.1093/dnares/7.1.65 http://dx.doi.org/10.1093/dnares/7.1.65 DOI 10.1093/hmg/9.7.1131 http://dx.doi.org/10.1093/hmg/9.7.1131 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DrugBank DB00228 http://www.drugbank.ca/drugs/DB00228 DrugBank DB00753 http://www.drugbank.ca/drugs/DB00753 DrugBank DB01028 http://www.drugbank.ca/drugs/DB01028 DrugBank DB01159 http://www.drugbank.ca/drugs/DB01159 DrugBank DB01189 http://www.drugbank.ca/drugs/DB01189 DrugBank DB01236 http://www.drugbank.ca/drugs/DB01236 EC_number EC:3.6.3.8 http://www.genome.jp/dbget-bin/www_bget?EC:3.6.3.8 EMBL AB037768 http://www.ebi.ac.uk/ena/data/view/AB037768 EMBL AC055733 http://www.ebi.ac.uk/ena/data/view/AC055733 EMBL AC097105 http://www.ebi.ac.uk/ena/data/view/AC097105 EMBL AF181120 http://www.ebi.ac.uk/ena/data/view/AF181120 EMBL AF181121 http://www.ebi.ac.uk/ena/data/view/AF181121 EMBL AF189723 http://www.ebi.ac.uk/ena/data/view/AF189723 EMBL AF225981 http://www.ebi.ac.uk/ena/data/view/AF225981 EMBL AJ010953 http://www.ebi.ac.uk/ena/data/view/AJ010953 EMBL AK001684 http://www.ebi.ac.uk/ena/data/view/AK001684 EMBL AK074692 http://www.ebi.ac.uk/ena/data/view/AK074692 EMBL AK296470 http://www.ebi.ac.uk/ena/data/view/AK296470 EMBL AK299945 http://www.ebi.ac.uk/ena/data/view/AK299945 EMBL AK314342 http://www.ebi.ac.uk/ena/data/view/AK314342 EMBL AY268374 http://www.ebi.ac.uk/ena/data/view/AY268374 EMBL AY268375 http://www.ebi.ac.uk/ena/data/view/AY268375 EMBL BC028139 http://www.ebi.ac.uk/ena/data/view/BC028139 EMBL CH471052 http://www.ebi.ac.uk/ena/data/view/CH471052 EMBL CH471052 http://www.ebi.ac.uk/ena/data/view/CH471052 ENZYME 3.6.3.8 http://enzyme.expasy.org/EC/3.6.3.8 Ensembl ENST00000328560 http://www.ensembl.org/id/ENST00000328560 Ensembl ENST00000359644 http://www.ensembl.org/id/ENST00000359644 Ensembl ENST00000422190 http://www.ensembl.org/id/ENST00000422190 Ensembl ENST00000428331 http://www.ensembl.org/id/ENST00000428331 Ensembl ENST00000504381 http://www.ensembl.org/id/ENST00000504381 Ensembl ENST00000504948 http://www.ensembl.org/id/ENST00000504948 Ensembl ENST00000507488 http://www.ensembl.org/id/ENST00000507488 Ensembl ENST00000508532 http://www.ensembl.org/id/ENST00000508532 Ensembl ENST00000510168 http://www.ensembl.org/id/ENST00000510168 Ensembl ENST00000513801 http://www.ensembl.org/id/ENST00000513801 Ensembl ENST00000533801 http://www.ensembl.org/id/ENST00000533801 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000139 GO_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GO_component GO:0005802 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005802 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GO_function GO:0005388 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005388 GO_function GO:0005509 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005509 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0015410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015410 GO_function GO:0030145 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030145 GO_function GO:0046872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046872 GO_process GO:0006816 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006816 GO_process GO:0006828 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006828 GO_process GO:0006874 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006874 GO_process GO:0008544 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008544 GO_process GO:0016339 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016339 GO_process GO:0030026 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030026 GO_process GO:0031532 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031532 GO_process GO:0032468 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032468 GO_process GO:0032472 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032472 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0043123 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043123 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007010 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007010 GOslim_process GO:0007155 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007155 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.20.1110.10 http://www.cathdb.info/version/latest/superfamily/1.20.1110.10 GeneCards ATP2C1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ATP2C1 GeneID 27032 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=27032 GeneTree ENSGT00850000132256 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00850000132256 HGNC HGNC:13211 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:13211 HOGENOM HOG000265621 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000265621&db=HOGENOM6 HOVERGEN HBG106478 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG106478&db=HOVERGEN HPA CAB010207 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB010207 HPA HPA035116 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA035116 HPA HPA053533 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA053533 InParanoid P98194 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P98194 IntAct P98194 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P98194* IntEnz 3.6.3.8 http://www.ebi.ac.uk/intenz/query?cmd=Search&q=3.6.3.8 InterPro IPR001757 http://www.ebi.ac.uk/interpro/entry/IPR001757 InterPro IPR004014 http://www.ebi.ac.uk/interpro/entry/IPR004014 InterPro IPR006068 http://www.ebi.ac.uk/interpro/entry/IPR006068 InterPro IPR006413 http://www.ebi.ac.uk/interpro/entry/IPR006413 InterPro IPR008250 http://www.ebi.ac.uk/interpro/entry/IPR008250 InterPro IPR018303 http://www.ebi.ac.uk/interpro/entry/IPR018303 InterPro IPR023214 http://www.ebi.ac.uk/interpro/entry/IPR023214 InterPro IPR023298 http://www.ebi.ac.uk/interpro/entry/IPR023298 InterPro IPR030336 http://www.ebi.ac.uk/interpro/entry/IPR030336 Jabion 27032 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=27032 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Disease H00844 http://www.genome.jp/dbget-bin/www_bget?H00844 KEGG_Gene hsa:27032 http://www.genome.jp/dbget-bin/www_bget?hsa:27032 KEGG_Orthology KO:K01537 http://www.genome.jp/dbget-bin/www_bget?KO:K01537 MIM 169600 http://www.ncbi.nlm.nih.gov/omim/169600 MIM 604384 http://www.ncbi.nlm.nih.gov/omim/604384 OMA HRTQQDK http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=HRTQQDK Orphanet 2841 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=2841 OrthoDB EOG091G0NXU http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0NXU PANTHER PTHR24093:SF214 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24093:SF214 PRINTS PR00120 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00120 PROSITE PS00154 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00154 PSORT swissprot:AT2C1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:AT2C1_HUMAN PSORT-B swissprot:AT2C1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:AT2C1_HUMAN PSORT2 swissprot:AT2C1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:AT2C1_HUMAN Pfam PF00122 http://pfam.xfam.org/family/PF00122 Pfam PF00689 http://pfam.xfam.org/family/PF00689 Pfam PF00690 http://pfam.xfam.org/family/PF00690 PharmGKB PA25111 http://www.pharmgkb.org/do/serve?objId=PA25111&objCls=Gene Phobius swissprot:AT2C1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:AT2C1_HUMAN PhylomeDB P98194 http://phylomedb.org/?seqid=P98194 ProteinModelPortal P98194 http://www.proteinmodelportal.org/query/uniprot/P98194 PubMed 10615129 http://www.ncbi.nlm.nih.gov/pubmed/10615129 PubMed 10718198 http://www.ncbi.nlm.nih.gov/pubmed/10718198 PubMed 10767338 http://www.ncbi.nlm.nih.gov/pubmed/10767338 PubMed 11124703 http://www.ncbi.nlm.nih.gov/pubmed/11124703 PubMed 11841554 http://www.ncbi.nlm.nih.gov/pubmed/11841554 PubMed 11874499 http://www.ncbi.nlm.nih.gov/pubmed/11874499 PubMed 12707275 http://www.ncbi.nlm.nih.gov/pubmed/12707275 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16641997 http://www.ncbi.nlm.nih.gov/pubmed/16641997 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 Reactome R-HSA-936837 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-936837 RefSeq NP_001001485 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001001485 RefSeq NP_001001486 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001001486 RefSeq NP_001001487 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001001487 RefSeq NP_001186108 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001186108 RefSeq NP_001186109 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001186109 RefSeq NP_001186110 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001186110 RefSeq NP_001186111 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001186111 RefSeq NP_001186112 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001186112 RefSeq NP_001186113 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001186113 RefSeq NP_001186114 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001186114 RefSeq NP_055197 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_055197 RefSeq XP_005247412 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005247412 RefSeq XP_005247413 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005247413 RefSeq XP_016861653 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016861653 SMART SM00831 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00831 SMR P98194 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P98194 STRING 9606.ENSP00000376914 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000376914&targetmode=cogs STRING COG0474 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=COG0474&targetmode=cogs SUPFAM SSF56784 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF56784 TCDB 3.A.3.2 http://www.tcdb.org/search/result.php?tc=3.A.3.2 TIGRFAMs TIGR01494 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01494 TIGRFAMs TIGR01522 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01522 UCSC uc003enk http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003enk&org=rat UniGene Hs.584884 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.584884 UniProtKB AT2C1_HUMAN http://www.uniprot.org/uniprot/AT2C1_HUMAN UniProtKB-AC P98194 http://www.uniprot.org/uniprot/P98194 charge swissprot:AT2C1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:AT2C1_HUMAN eggNOG COG0474 http://eggnogapi.embl.de/nog_data/html/tree/COG0474 eggNOG KOG0202 http://eggnogapi.embl.de/nog_data/html/tree/KOG0202 epestfind swissprot:AT2C1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:AT2C1_HUMAN garnier swissprot:AT2C1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:AT2C1_HUMAN helixturnhelix swissprot:AT2C1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:AT2C1_HUMAN hmoment swissprot:AT2C1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:AT2C1_HUMAN iep swissprot:AT2C1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:AT2C1_HUMAN inforesidue swissprot:AT2C1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:AT2C1_HUMAN neXtProt NX_P98194 http://www.nextprot.org/db/entry/NX_P98194 octanol swissprot:AT2C1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:AT2C1_HUMAN pepcoil swissprot:AT2C1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:AT2C1_HUMAN pepdigest swissprot:AT2C1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:AT2C1_HUMAN pepinfo swissprot:AT2C1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:AT2C1_HUMAN pepnet swissprot:AT2C1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:AT2C1_HUMAN pepstats swissprot:AT2C1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:AT2C1_HUMAN pepwheel swissprot:AT2C1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:AT2C1_HUMAN pepwindow swissprot:AT2C1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:AT2C1_HUMAN sigcleave swissprot:AT2C1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:AT2C1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS SC6A4_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P31645-1; Sequence=Displayed; Name=2; IsoId=P31645-2; Sequence=VSP_046553; # AltName SC6A4_HUMAN 5HT transporter # AltName SC6A4_HUMAN Solute carrier family 6 member 4 # BioGrid 112423 5 # CCDS CCDS11256 -. [P31645-1] # DrugBank DB00176 Fluvoxamine # DrugBank DB00182 Amphetamine # DrugBank DB00191 Phentermine # DrugBank DB00193 Tramadol # DrugBank DB00215 Citalopram # DrugBank DB00285 Venlafaxine # DrugBank DB00289 Atomoxetine # DrugBank DB00321 Amitriptyline # DrugBank DB00344 Protriptyline # DrugBank DB00370 Mirtazapine # DrugBank DB00408 Loxapine # DrugBank DB00422 Methylphenidate # DrugBank DB00454 Pethidine # DrugBank DB00458 Imipramine # DrugBank DB00472 Fluoxetine # DrugBank DB00476 Duloxetine # DrugBank DB00514 Dextromethorphan # DrugBank DB00540 Nortriptyline # DrugBank DB00543 Amoxapine # DrugBank DB00579 Mazindol # DrugBank DB00656 Trazodone # DrugBank DB00661 Verapamil # DrugBank DB00715 Paroxetine # DrugBank DB00726 Trimipramine # DrugBank DB00805 Minaprine # DrugBank DB00852 Pseudoephedrine # DrugBank DB00907 Cocaine # DrugBank DB00988 Dopamine # DrugBank DB01104 Sertraline # DrugBank DB01105 Sibutramine # DrugBank DB01114 Chlorphenamine # DrugBank DB01142 Doxepin # DrugBank DB01149 Nefazodone # DrugBank DB01151 Desipramine # DrugBank DB01175 Escitalopram # DrugBank DB01191 Dexfenfluramine # DrugBank DB01242 Clomipramine # DrugBank DB01363 Ephedra # DrugBank DB01577 Methamphetamine # DrugBank DB04896 Milnacipran # DrugBank DB06148 Mianserin # DrugBank DB06204 Tapentadol # DrugBank DB06684 Vilazodone # DrugBank DB06700 Desvenlafaxine # DrugBank DB06701 Dexmethylphenidate # DrugBank DB08918 Levomilnacipran # DrugBank DB09016 Butriptyline # DrugBank DB09068 Vortioxetine # Ensembl ENST00000261707 ENSP00000261707; ENSG00000108576. [P31645-1] # Ensembl ENST00000401766 ENSP00000385822; ENSG00000108576. [P31645-1] # ExpressionAtlas P31645 baseline and differential # FUNCTION SC6A4_HUMAN Serotonin transporter whose primary function in the central nervous system involves the regulation of serotonergic signaling via transport of serotonin molecules from the synaptic cleft back into the pre-synaptic terminal for re-utilization. Plays a key role in mediating regulation of the availability of serotonin to other receptors of serotonergic systems. Terminates the action of serotonin and recycles it in a sodium-dependent manner. {ECO 0000269|PubMed 17506858, ECO 0000269|PubMed 18227069, ECO 0000269|PubMed 19270731, ECO 0000269|PubMed 27049939}. # GO_component GO:0005829 cytosol; IDA:UniProtKB. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0005887 integral component of plasma membrane; IC:UniProtKB. # GO_component GO:0010008 endosome membrane; IEA:UniProtKB-SubCell. # GO_component GO:0012505 endomembrane system; IDA:UniProtKB. # GO_component GO:0043005 neuron projection; IBA:GO_Central. # GO_component GO:0045121 membrane raft; IDA:UniProtKB. # GO_component GO:0098793 presynapse; IEA:GOC. # GO_function GO:0008504 monoamine transmembrane transporter activity; IDA:MGI. # GO_function GO:0015222 serotonin transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0017137 Rab GTPase binding; IPI:UniProtKB. # GO_function GO:0019811 cocaine binding; IEA:Ensembl. # GO_function GO:0046872 metal ion binding; IEA:UniProtKB-KW. # GO_function GO:0051015 actin filament binding; ISS:UniProtKB. # GO_function SC6A4_HUMAN GO 0005335 serotonin sodium symporter activity; IDA UniProtKB. # GO_process GO:0001666 response to hypoxia; IEA:Ensembl. # GO_process GO:0006837 serotonin transport; IDA:UniProtKB. # GO_process GO:0007268 chemical synaptic transmission; IBA:GO_Central. # GO_process GO:0007584 response to nutrient; IEA:Ensembl. # GO_process GO:0007613 memory; IEA:Ensembl. # GO_process GO:0007623 circadian rhythm; IEA:Ensembl. # GO_process GO:0009636 response to toxic substance; IDA:UniProtKB. # GO_process GO:0010628 positive regulation of gene expression; IEA:Ensembl. # GO_process GO:0015844 monoamine transport; IDA:MGI. # GO_process GO:0021794 thalamus development; IMP:UniProtKB. # GO_process GO:0021941 negative regulation of cerebellar granule cell precursor proliferation; IEA:Ensembl. # GO_process GO:0032227 negative regulation of synaptic transmission, dopaminergic; IEA:Ensembl. # GO_process GO:0032355 response to estradiol; IEA:Ensembl. # GO_process GO:0035176 social behavior; ISS:BHF-UCL. # GO_process GO:0042310 vasoconstriction; IEA:Ensembl. # GO_process GO:0042493 response to drug; IEA:Ensembl. # GO_process GO:0042713 sperm ejaculation; IEA:Ensembl. # GO_process GO:0045665 negative regulation of neuron differentiation; IEA:Ensembl. # GO_process GO:0045787 positive regulation of cell cycle; IEA:Ensembl. # GO_process GO:0046621 negative regulation of organ growth; ISS:BHF-UCL. # GO_process GO:0048854 brain morphogenesis; ISS:BHF-UCL. # GO_process GO:0051259 protein oligomerization; ISS:UniProtKB. # GO_process GO:0051260 protein homooligomerization; IEA:Ensembl. # GO_process GO:0051610 serotonin uptake; IDA:UniProtKB. # GO_process GO:0071300 cellular response to retinoic acid; IEA:Ensembl. # GO_process GO:0071321 cellular response to cGMP; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005829 cytosol # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0008092 cytoskeletal protein binding # GOslim_function GO:0019899 enzyme binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0003013 circulatory system process # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0050877 neurological system process # Genevisible P31645 HS # HGNC HGNC:11050 SLC6A4 # INDUCTION SC6A4_HUMAN Down-regulated when plasma serotonin is elevated. {ECO 0000269|PubMed 18227069, ECO 0000269|PubMed 19270731}. # IntAct P31645 2 # InterPro IPR000175 Na/ntran_symport # InterPro IPR013086 Na/ntran_symport_serotonin_N # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02001 Solute carrier family # KEGG_Brite ko04040 Ion channels # KEGG_Disease H01450 [Mental and behavioural disorders] Obsessive-compulsive disorder (OCD) # KEGG_Pathway ko04726 Serotonergic synapse # MIM 103780 phenotype # MIM 164230 phenotype # MIM 182138 gene # MISCELLANEOUS SC6A4_HUMAN This protein is the target of psychomotor stimulants such as amphetamines or cocaine. # Organism SC6A4_HUMAN Homo sapiens (Human) # PANTHER PTHR11616 PTHR11616; 2 # PDB 5I6X X-ray; 3.14 A; A=76-618 # PDB 5I6Z X-ray; 4.53 A; A=76-618 # PDB 5I71 X-ray; 3.15 A; A=76-618 # PDB 5I73 X-ray; 3.24 A; A=76-618 # PDB 5I74 X-ray; 3.40 A; A=76-618 # PDB 5I75 X-ray; 3.49 A; A=76-618 # PIR A47398 A47398 # POLYMORPHISM A polymorphism in the promoter region (5-HTT gene- linked polymorphic region, 5-HTTLPR) is located approximately 1 kb upstream of the transcription initiation site and is composed of 16 repeat elements. The polymorphism consists of a 44-bp insertion or deletion involving repeat elements 6 to 8. The short allele is associated with lower transcriptional efficiency of the promoter compared with the long allele. Over half of the Caucasian population has a short allele. Individuals with one or two copies of the short allele exhibit more depressive symptoms, diagnosable depression and suicidality in relation to stressful life events than individuals homozygous for the long allele. {ECO:0000269|PubMed 12869766}. # POLYMORPHISM Genetic variations in SLC6A4 determine the genetic susceptibility to alcoholism [MIM:103780]. {ECO 0000269|PubMed:15635638}. # POLYMORPHISM SC6A4_HUMAN The polymorphism Val-425 seems to be linked to a susceptibility to obsessive-compulsive disorder (OCD) [MIM 164230]. {ECO 0000269|PubMed 12869649, ECO 0000269|PubMed 14593431, ECO 0000269|PubMed 17913921}. # PRINTS PR00176 NANEUSMPORT # PRINTS PR01203 5HTTRANSPORT # PROSITE PS00610 NA_NEUROTRAN_SYMP_1 # PROSITE PS00754 NA_NEUROTRAN_SYMP_2 # PROSITE PS50267 NA_NEUROTRAN_SYMP_3 # PTM SC6A4_HUMAN Glycosylated; modification with sialylated N-glycans is a requirement for transporters to associate with each other and to function as homooligomeric forms. {ECO 0000250}. # PTM SC6A4_HUMAN Phosphorylation at Thr-276 increases 5-HT uptake and is required for cGMP-mediated SERT regulation. Phosphorylation upon PKC stimulation modifies the SERT distribution and density in the membrane, and diminishes the uptake capacity. {ECO 0000269|PubMed 17913921, ECO 0000269|PubMed 19270731, ECO 0000269|PubMed 21992875}. # Pfam PF00209 SNF # Pfam PF03491 5HT_transport_N # Proteomes UP000005640 Chromosome 17 # Reactome R-HSA-380615 Serotonin clearance from the synaptic cleft # RecName SC6A4_HUMAN Sodium-dependent serotonin transporter # RefSeq NP_001036 NM_001045.5. [P31645-1] # SIMILARITY Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A4 subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION SC6A4_HUMAN Cell membrane {ECO 0000269|PubMed 16870614, ECO 0000269|PubMed 17506858, ECO 0000269|PubMed 18227069, ECO 0000269|PubMed 19270731, ECO 0000269|PubMed 27049939}; Multi- pass membrane protein {ECO 0000250|UniProtKB Q7K4Y6, ECO 0000269|PubMed 27049939}. Endomembrane system {ECO 0000269|PubMed 16870614}; Multi-pass membrane protein {ECO 0000255}. Endosome membrane {ECO 0000269|PubMed 16870614, ECO 0000269|PubMed 18227069}; Multi-pass membrane protein {ECO 0000255}. Note=Could be part of recycling endosomes (PubMed 18227069, PubMed 16870614). Density of transporter molecules on the plasma membrane is itself regulated by STX1A (By similarity). Density of transporter molecules on the plasma membrane is also regulated by serotonin (PubMed 17506858) (PubMed 18227069). {ECO 0000250|UniProtKB P31652, ECO 0000269|PubMed 16870614, ECO 0000269|PubMed 17506858, ECO 0000269|PubMed 18227069}. # SUBUNIT SC6A4_HUMAN Monomer or homooligomer (By similarity). Interacts with TGFB1I1. Interacts (via sialylated form) with MYH9. Interacts with SEC23A, SEC24C and PATJ. Interacts with NOS1; the interaction may diminish the cell surface localization of SERT in the brain and, correspondingly, reduce serotonin reuptake. Interacts with filamentous actin and STX1A (By similarity). Interacts (via C- terminus) with VIM. Interacts (via C-terminus) with SCAMP2; the interaction is direct and retains transporter molecules intracellularly. Interacts with RAB4 (GTP-bound form); the interaction retains transporter molecules intracellularly. {ECO 0000250, ECO 0000269|PubMed 16803896, ECO 0000269|PubMed 16870614, ECO 0000269|PubMed 18227069, ECO 0000269|PubMed 19270731}. # TCDB 2.A.22.1:the neurotransmitter sodium symporter (nss) family # TISSUE SPECIFICITY Expressed in platelets (at protein level). {ECO:0000269|PubMed 17506858}. # UCSC uc002hey human. [P31645-1] # WEB RESOURCE SC6A4_HUMAN Name=NIEHS-SNPs; URL="http //egp.gs.washington.edu/data/slc6a4/"; # WEB RESOURCE SC6A4_HUMAN Name=Protein Spotlight; Note=Love, love, love... -Issue 123 of November 2010; URL="http //web.expasy.org/spotlight/back_issues/123"; # WEB RESOURCE SC6A4_HUMAN Name=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="http //shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=SLC6A4"; # WEB RESOURCE SC6A4_HUMAN Name=Wikipedia; Note=Serotonin transporter entry; URL="https //en.wikipedia.org/wiki/Serotonin_transporter"; # eggNOG COG0733 LUCA # eggNOG KOG3659 Eukaryota BLAST swissprot:SC6A4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SC6A4_HUMAN BioCyc ZFISH:ENSG00000108576-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000108576-MONOMER COXPRESdb 6532 http://coxpresdb.jp/data/gene/6532.shtml CleanEx HS_HTT http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_HTT CleanEx HS_SLC6A4 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC6A4 DOI 10.1002/ajmg.b.30132 http://dx.doi.org/10.1002/ajmg.b.30132 DOI 10.1007/BF01244919 http://dx.doi.org/10.1007/BF01244919 DOI 10.1038/10290 http://dx.doi.org/10.1038/10290 DOI 10.1038/nature17629 http://dx.doi.org/10.1038/nature17629 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1038/sj.mp.4001365 http://dx.doi.org/10.1038/sj.mp.4001365 DOI 10.1073/pnas.90.6.2542 http://dx.doi.org/10.1073/pnas.90.6.2542 DOI 10.1074/jbc.M602848200 http://dx.doi.org/10.1074/jbc.M602848200 DOI 10.1074/jbc.M603877200 http://dx.doi.org/10.1074/jbc.M603877200 DOI 10.1074/jbc.M706367200 http://dx.doi.org/10.1074/jbc.M706367200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1471-4159.1993.tb03522.x http://dx.doi.org/10.1111/j.1471-4159.1993.tb03522.x DOI 10.1111/j.1471-4159.2007.04542.x http://dx.doi.org/10.1111/j.1471-4159.2007.04542.x DOI 10.1124/mol.111.073171 http://dx.doi.org/10.1124/mol.111.073171 DOI 10.1124/mol.64.2.440 http://dx.doi.org/10.1124/mol.64.2.440 DOI 10.1126/science.1083968 http://dx.doi.org/10.1126/science.1083968 DOI 10.1371/journal.pone.0004730 http://dx.doi.org/10.1371/journal.pone.0004730 DOI 10.1523/JNEUROSCI.0034-07.2007 http://dx.doi.org/10.1523/JNEUROSCI.0034-07.2007 DrugBank DB00176 http://www.drugbank.ca/drugs/DB00176 DrugBank DB00182 http://www.drugbank.ca/drugs/DB00182 DrugBank DB00191 http://www.drugbank.ca/drugs/DB00191 DrugBank DB00193 http://www.drugbank.ca/drugs/DB00193 DrugBank DB00215 http://www.drugbank.ca/drugs/DB00215 DrugBank DB00285 http://www.drugbank.ca/drugs/DB00285 DrugBank DB00289 http://www.drugbank.ca/drugs/DB00289 DrugBank DB00321 http://www.drugbank.ca/drugs/DB00321 DrugBank DB00344 http://www.drugbank.ca/drugs/DB00344 DrugBank DB00370 http://www.drugbank.ca/drugs/DB00370 DrugBank DB00408 http://www.drugbank.ca/drugs/DB00408 DrugBank DB00422 http://www.drugbank.ca/drugs/DB00422 DrugBank DB00454 http://www.drugbank.ca/drugs/DB00454 DrugBank DB00458 http://www.drugbank.ca/drugs/DB00458 DrugBank DB00472 http://www.drugbank.ca/drugs/DB00472 DrugBank DB00476 http://www.drugbank.ca/drugs/DB00476 DrugBank DB00514 http://www.drugbank.ca/drugs/DB00514 DrugBank DB00540 http://www.drugbank.ca/drugs/DB00540 DrugBank DB00543 http://www.drugbank.ca/drugs/DB00543 DrugBank DB00579 http://www.drugbank.ca/drugs/DB00579 DrugBank DB00656 http://www.drugbank.ca/drugs/DB00656 DrugBank DB00661 http://www.drugbank.ca/drugs/DB00661 DrugBank DB00715 http://www.drugbank.ca/drugs/DB00715 DrugBank DB00726 http://www.drugbank.ca/drugs/DB00726 DrugBank DB00805 http://www.drugbank.ca/drugs/DB00805 DrugBank DB00852 http://www.drugbank.ca/drugs/DB00852 DrugBank DB00907 http://www.drugbank.ca/drugs/DB00907 DrugBank DB00988 http://www.drugbank.ca/drugs/DB00988 DrugBank DB01104 http://www.drugbank.ca/drugs/DB01104 DrugBank DB01105 http://www.drugbank.ca/drugs/DB01105 DrugBank DB01114 http://www.drugbank.ca/drugs/DB01114 DrugBank DB01142 http://www.drugbank.ca/drugs/DB01142 DrugBank DB01149 http://www.drugbank.ca/drugs/DB01149 DrugBank DB01151 http://www.drugbank.ca/drugs/DB01151 DrugBank DB01175 http://www.drugbank.ca/drugs/DB01175 DrugBank DB01191 http://www.drugbank.ca/drugs/DB01191 DrugBank DB01242 http://www.drugbank.ca/drugs/DB01242 DrugBank DB01363 http://www.drugbank.ca/drugs/DB01363 DrugBank DB01577 http://www.drugbank.ca/drugs/DB01577 DrugBank DB04896 http://www.drugbank.ca/drugs/DB04896 DrugBank DB06148 http://www.drugbank.ca/drugs/DB06148 DrugBank DB06204 http://www.drugbank.ca/drugs/DB06204 DrugBank DB06684 http://www.drugbank.ca/drugs/DB06684 DrugBank DB06700 http://www.drugbank.ca/drugs/DB06700 DrugBank DB06701 http://www.drugbank.ca/drugs/DB06701 DrugBank DB08918 http://www.drugbank.ca/drugs/DB08918 DrugBank DB09016 http://www.drugbank.ca/drugs/DB09016 DrugBank DB09068 http://www.drugbank.ca/drugs/DB09068 EMBL AK308014 http://www.ebi.ac.uk/ena/data/view/AK308014 EMBL AY902473 http://www.ebi.ac.uk/ena/data/view/AY902473 EMBL BC069484 http://www.ebi.ac.uk/ena/data/view/BC069484 EMBL EU099989 http://www.ebi.ac.uk/ena/data/view/EU099989 EMBL L05568 http://www.ebi.ac.uk/ena/data/view/L05568 EMBL U79746 http://www.ebi.ac.uk/ena/data/view/U79746 EMBL X70697 http://www.ebi.ac.uk/ena/data/view/X70697 Ensembl ENST00000261707 http://www.ensembl.org/id/ENST00000261707 Ensembl ENST00000401766 http://www.ensembl.org/id/ENST00000401766 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0010008 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010008 GO_component GO:0012505 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0012505 GO_component GO:0043005 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043005 GO_component GO:0045121 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045121 GO_component GO:0098793 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0098793 GO_function GO:0005335 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005335 GO_function GO:0008504 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008504 GO_function GO:0015222 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015222 GO_function GO:0017137 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0017137 GO_function GO:0019811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019811 GO_function GO:0046872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046872 GO_function GO:0051015 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051015 GO_process GO:0001666 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001666 GO_process GO:0006837 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006837 GO_process GO:0007268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007268 GO_process GO:0007584 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007584 GO_process GO:0007613 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007613 GO_process GO:0007623 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007623 GO_process GO:0009636 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009636 GO_process GO:0010628 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010628 GO_process GO:0015844 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015844 GO_process GO:0021794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021794 GO_process GO:0021941 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021941 GO_process GO:0032227 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032227 GO_process GO:0032355 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032355 GO_process GO:0035176 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035176 GO_process GO:0042310 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042310 GO_process GO:0042493 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042493 GO_process GO:0042713 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042713 GO_process GO:0045665 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045665 GO_process GO:0045787 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045787 GO_process GO:0046621 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046621 GO_process GO:0048854 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048854 GO_process GO:0051259 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051259 GO_process GO:0051260 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051260 GO_process GO:0051610 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051610 GO_process GO:0071300 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071300 GO_process GO:0071321 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071321 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0008092 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008092 GOslim_function GO:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0003013 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003013 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GeneCards SLC6A4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC6A4 GeneID 6532 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6532 GeneTree ENSGT00760000118857 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118857 HGNC HGNC:11050 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11050 HOGENOM HOG000116406 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000116406&db=HOGENOM6 HOVERGEN HBG071421 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG071421&db=HOVERGEN HPA HPA054723 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA054723 InParanoid P31645 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P31645 IntAct P31645 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P31645* InterPro IPR000175 http://www.ebi.ac.uk/interpro/entry/IPR000175 InterPro IPR013086 http://www.ebi.ac.uk/interpro/entry/IPR013086 Jabion 6532 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6532 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H01450 http://www.genome.jp/dbget-bin/www_bget?H01450 KEGG_Gene hsa:6532 http://www.genome.jp/dbget-bin/www_bget?hsa:6532 KEGG_Orthology KO:K05037 http://www.genome.jp/dbget-bin/www_bget?KO:K05037 KEGG_Pathway ko04726 http://www.genome.jp/kegg-bin/show_pathway?ko04726 MIM 103780 http://www.ncbi.nlm.nih.gov/omim/103780 MIM 164230 http://www.ncbi.nlm.nih.gov/omim/164230 MIM 182138 http://www.ncbi.nlm.nih.gov/omim/182138 MINT MINT-577123 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-577123 OMA CRDVKEM http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=CRDVKEM OrthoDB EOG091G08PX http://cegg.unige.ch/orthodb/results?searchtext=EOG091G08PX PANTHER PTHR11616 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11616 PDB 5I6X http://www.ebi.ac.uk/pdbe-srv/view/entry/5I6X PDB 5I6Z http://www.ebi.ac.uk/pdbe-srv/view/entry/5I6Z PDB 5I71 http://www.ebi.ac.uk/pdbe-srv/view/entry/5I71 PDB 5I73 http://www.ebi.ac.uk/pdbe-srv/view/entry/5I73 PDB 5I74 http://www.ebi.ac.uk/pdbe-srv/view/entry/5I74 PDB 5I75 http://www.ebi.ac.uk/pdbe-srv/view/entry/5I75 PDBsum 5I6X http://www.ebi.ac.uk/pdbsum/5I6X PDBsum 5I6Z http://www.ebi.ac.uk/pdbsum/5I6Z PDBsum 5I71 http://www.ebi.ac.uk/pdbsum/5I71 PDBsum 5I73 http://www.ebi.ac.uk/pdbsum/5I73 PDBsum 5I74 http://www.ebi.ac.uk/pdbsum/5I74 PDBsum 5I75 http://www.ebi.ac.uk/pdbsum/5I75 PRINTS PR00176 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00176 PRINTS PR01203 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01203 PROSITE PS00610 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00610 PROSITE PS00754 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00754 PROSITE PS50267 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50267 PSORT swissprot:SC6A4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SC6A4_HUMAN PSORT-B swissprot:SC6A4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SC6A4_HUMAN PSORT2 swissprot:SC6A4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SC6A4_HUMAN Pfam PF00209 http://pfam.xfam.org/family/PF00209 Pfam PF03491 http://pfam.xfam.org/family/PF03491 PharmGKB PA312 http://www.pharmgkb.org/do/serve?objId=PA312&objCls=Gene Phobius swissprot:SC6A4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SC6A4_HUMAN PhylomeDB P31645 http://phylomedb.org/?seqid=P31645 ProteinModelPortal P31645 http://www.proteinmodelportal.org/query/uniprot/P31645 PubMed 10391209 http://www.ncbi.nlm.nih.gov/pubmed/10391209 PubMed 12869649 http://www.ncbi.nlm.nih.gov/pubmed/12869649 PubMed 12869766 http://www.ncbi.nlm.nih.gov/pubmed/12869766 PubMed 14593431 http://www.ncbi.nlm.nih.gov/pubmed/14593431 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15635638 http://www.ncbi.nlm.nih.gov/pubmed/15635638 PubMed 16601320 http://www.ncbi.nlm.nih.gov/pubmed/16601320 PubMed 16803896 http://www.ncbi.nlm.nih.gov/pubmed/16803896 PubMed 16870614 http://www.ncbi.nlm.nih.gov/pubmed/16870614 PubMed 17506858 http://www.ncbi.nlm.nih.gov/pubmed/17506858 PubMed 17913921 http://www.ncbi.nlm.nih.gov/pubmed/17913921 PubMed 18227069 http://www.ncbi.nlm.nih.gov/pubmed/18227069 PubMed 19270731 http://www.ncbi.nlm.nih.gov/pubmed/19270731 PubMed 21992875 http://www.ncbi.nlm.nih.gov/pubmed/21992875 PubMed 27049939 http://www.ncbi.nlm.nih.gov/pubmed/27049939 PubMed 7681602 http://www.ncbi.nlm.nih.gov/pubmed/7681602 PubMed 7684072 http://www.ncbi.nlm.nih.gov/pubmed/7684072 PubMed 8452685 http://www.ncbi.nlm.nih.gov/pubmed/8452685 Reactome R-HSA-380615 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-380615 RefSeq NP_001036 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001036 SMR P31645 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P31645 STRING 9606.ENSP00000261707 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000261707&targetmode=cogs TCDB 2.A.22.1 http://www.tcdb.org/search/result.php?tc=2.A.22.1 UCSC uc002hey http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002hey&org=rat UniGene Hs.134662 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.134662 UniGene Hs.29792 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.29792 UniProtKB SC6A4_HUMAN http://www.uniprot.org/uniprot/SC6A4_HUMAN UniProtKB-AC P31645 http://www.uniprot.org/uniprot/P31645 charge swissprot:SC6A4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SC6A4_HUMAN eggNOG COG0733 http://eggnogapi.embl.de/nog_data/html/tree/COG0733 eggNOG KOG3659 http://eggnogapi.embl.de/nog_data/html/tree/KOG3659 epestfind swissprot:SC6A4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SC6A4_HUMAN garnier swissprot:SC6A4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SC6A4_HUMAN helixturnhelix swissprot:SC6A4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SC6A4_HUMAN hmoment swissprot:SC6A4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SC6A4_HUMAN iep swissprot:SC6A4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SC6A4_HUMAN inforesidue swissprot:SC6A4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SC6A4_HUMAN neXtProt NX_P31645 http://www.nextprot.org/db/entry/NX_P31645 octanol swissprot:SC6A4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SC6A4_HUMAN pepcoil swissprot:SC6A4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SC6A4_HUMAN pepdigest swissprot:SC6A4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SC6A4_HUMAN pepinfo swissprot:SC6A4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SC6A4_HUMAN pepnet swissprot:SC6A4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SC6A4_HUMAN pepstats swissprot:SC6A4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SC6A4_HUMAN pepwheel swissprot:SC6A4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SC6A4_HUMAN pepwindow swissprot:SC6A4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SC6A4_HUMAN sigcleave swissprot:SC6A4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SC6A4_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S39A3_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9BRY0-1; Sequence=Displayed; Name=2; IsoId=Q9BRY0-2; Sequence=VSP_029920, VSP_029921; # AltName S39A3_HUMAN Solute carrier family 39 member 3 # AltName S39A3_HUMAN Zrt- and Irt-like protein 3 # BioGrid 119011 8 # CCDS CCDS12093 -. [Q9BRY0-1] # CCDS CCDS45909 -. [Q9BRY0-2] # ChiTaRS SLC39A3 human # Ensembl ENST00000269740 ENSP00000269740; ENSG00000141873. [Q9BRY0-1] # Ensembl ENST00000455372 ENSP00000393715; ENSG00000141873. [Q9BRY0-2] # ExpressionAtlas Q9BRY0 baseline and differential # FUNCTION S39A3_HUMAN Acts as a zinc-influx transporter. {ECO 0000305}. # GO_component GO:0005886 plasma membrane; IBA:GO_Central. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0005385 zinc ion transmembrane transporter activity; IBA:GO_Central. # GO_process GO:0000902 cell morphogenesis; IEA:Ensembl. # GO_process GO:0001701 in utero embryonic development; IEA:Ensembl. # GO_process GO:0043029 T cell homeostasis; IEA:Ensembl. # GO_process GO:0048701 embryonic cranial skeleton morphogenesis; IEA:Ensembl. # GO_process GO:0060173 limb development; IEA:Ensembl. # GO_process GO:0071577 zinc II ion transmembrane transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0000902 cell morphogenesis # GOslim_process GO:0002376 immune system process # GOslim_process GO:0008150 biological_process # GOslim_process GO:0009790 embryo development # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0055085 transmembrane transport # Genevisible Q9BRY0 HS # HGNC HGNC:17128 SLC39A3 # InterPro IPR003689 ZIP # KEGG_Brite ko02001 Solute carrier family # MIM 612168 gene # Organism S39A3_HUMAN Homo sapiens (Human) # Pfam PF02535 Zip # Proteomes UP000005640 Chromosome 19 # Reactome R-HSA-442380 Zinc influx into cells by the SLC39 gene family # RecName S39A3_HUMAN Zinc transporter ZIP3 # RefSeq NP_653165 NM_144564.4. [Q9BRY0-1] # RefSeq NP_998733 NM_213568.1. [Q9BRY0-2] # SIMILARITY Belongs to the ZIP transporter (TC 2.A.5) family. {ECO 0000305}. # SUBCELLULAR LOCATION S39A3_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # TCDB 2.A.5.3 the zinc (zn(2+))-iron (fe(2+)) permease (zip) family # UCSC uc002lwg human. [Q9BRY0-1] # eggNOG ENOG4111GP2 LUCA # eggNOG KOG1558 Eukaryota BLAST swissprot:S39A3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S39A3_HUMAN BioCyc ZFISH:ENSG00000141873-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000141873-MONOMER COXPRESdb 29985 http://coxpresdb.jp/data/gene/29985.shtml CleanEx HS_SLC39A3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC39A3 DOI 10.1016/j.molcel.2008.07.007 http://dx.doi.org/10.1016/j.molcel.2008.07.007 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/scisignal.2000007 http://dx.doi.org/10.1126/scisignal.2000007 DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 EMBL AK002044 http://www.ebi.ac.uk/ena/data/view/AK002044 EMBL BC005869 http://www.ebi.ac.uk/ena/data/view/BC005869 EMBL BC020571 http://www.ebi.ac.uk/ena/data/view/BC020571 Ensembl ENST00000269740 http://www.ensembl.org/id/ENST00000269740 Ensembl ENST00000455372 http://www.ensembl.org/id/ENST00000455372 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005385 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005385 GO_process GO:0000902 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000902 GO_process GO:0001701 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001701 GO_process GO:0043029 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043029 GO_process GO:0048701 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048701 GO_process GO:0060173 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060173 GO_process GO:0071577 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071577 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0000902 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000902 GOslim_process GO:0002376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002376 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0009790 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009790 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC39A3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC39A3 GeneID 29985 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=29985 GeneTree ENSGT00530000063242 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000063242 HGNC HGNC:17128 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:17128 HOVERGEN HBG108447 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG108447&db=HOVERGEN HPA HPA042139 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA042139 HPA HPA058526 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA058526 InParanoid Q9BRY0 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9BRY0 InterPro IPR003689 http://www.ebi.ac.uk/interpro/entry/IPR003689 Jabion 29985 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=29985 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:29985 http://www.genome.jp/dbget-bin/www_bget?hsa:29985 KEGG_Orthology KO:K14709 http://www.genome.jp/dbget-bin/www_bget?KO:K14709 MIM 612168 http://www.ncbi.nlm.nih.gov/omim/612168 PSORT swissprot:S39A3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S39A3_HUMAN PSORT-B swissprot:S39A3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S39A3_HUMAN PSORT2 swissprot:S39A3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S39A3_HUMAN Pfam PF02535 http://pfam.xfam.org/family/PF02535 PharmGKB PA38203 http://www.pharmgkb.org/do/serve?objId=PA38203&objCls=Gene Phobius swissprot:S39A3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S39A3_HUMAN PhylomeDB Q9BRY0 http://phylomedb.org/?seqid=Q9BRY0 ProteinModelPortal Q9BRY0 http://www.proteinmodelportal.org/query/uniprot/Q9BRY0 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 18691976 http://www.ncbi.nlm.nih.gov/pubmed/18691976 PubMed 19690332 http://www.ncbi.nlm.nih.gov/pubmed/19690332 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 Reactome R-HSA-442380 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-442380 RefSeq NP_653165 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_653165 RefSeq NP_998733 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_998733 STRING 9606.ENSP00000269740 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000269740&targetmode=cogs TCDB 2.A.5.3 http://www.tcdb.org/search/result.php?tc=2.A.5.3 UCSC uc002lwg http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002lwg&org=rat UniGene Hs.515046 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.515046 UniProtKB S39A3_HUMAN http://www.uniprot.org/uniprot/S39A3_HUMAN UniProtKB-AC Q9BRY0 http://www.uniprot.org/uniprot/Q9BRY0 charge swissprot:S39A3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S39A3_HUMAN eggNOG ENOG4111GP2 http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111GP2 eggNOG KOG1558 http://eggnogapi.embl.de/nog_data/html/tree/KOG1558 epestfind swissprot:S39A3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S39A3_HUMAN garnier swissprot:S39A3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S39A3_HUMAN helixturnhelix swissprot:S39A3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S39A3_HUMAN hmoment swissprot:S39A3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S39A3_HUMAN iep swissprot:S39A3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S39A3_HUMAN inforesidue swissprot:S39A3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S39A3_HUMAN neXtProt NX_Q9BRY0 http://www.nextprot.org/db/entry/NX_Q9BRY0 octanol swissprot:S39A3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S39A3_HUMAN pepcoil swissprot:S39A3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S39A3_HUMAN pepdigest swissprot:S39A3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S39A3_HUMAN pepinfo swissprot:S39A3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S39A3_HUMAN pepnet swissprot:S39A3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S39A3_HUMAN pepstats swissprot:S39A3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S39A3_HUMAN pepwheel swissprot:S39A3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S39A3_HUMAN pepwindow swissprot:S39A3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S39A3_HUMAN sigcleave swissprot:S39A3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S39A3_HUMAN ## Database ID URL or Descriptions # BioGrid 122138 40 # Ensembl ENST00000255305 ENSP00000255305; ENSG00000132953 # ExpressionAtlas Q9C0E2 baseline and differential # FUNCTION XPO4_HUMAN Mediates the nuclear export of proteins (cargos) with broad substrate specificity. In the nucleus binds cooperatively to its cargo and to the GTPase Ran in its active GTP-bound form. Docking of this trimeric complex to the nuclear pore complex (NPC) is mediated through binding to nucleoporins. Upon transit of a nuclear export complex into the cytoplasm, disassembling of the complex and hydrolysis of Ran-GTP to Ran-GDP (induced by RANBP1 and RANGAP1, respectively) cause release of the cargo from the export receptor. XPO4 then return to the nuclear compartment and mediate another round of transport. The directionality of nuclear export is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. {ECO 0000269|PubMed 10944119, ECO 0000269|PubMed 16449645}. # GO_component GO:0005643 nuclear pore; IBA:GO_Central. # GO_component GO:0005654 nucleoplasm; IDA:HPA. # GO_component GO:0005737 cytoplasm; IDA:HPA. # GO_function GO:0005049 nuclear export signal receptor activity; IBA:GO_Central. # GO_function GO:0008536 Ran GTPase binding; IBA:GO_Central. # GO_process GO:0046827 positive regulation of protein export from nucleus; IMP:BHF-UCL. # GOslim_component GO:0005654 nucleoplasm # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0043234 protein complex # GOslim_function GO:0008565 protein transporter activity # GOslim_function GO:0019899 enzyme binding # GOslim_process GO:0008150 biological_process # Gene3D 1.25.10.10 -; 1. # Genevisible Q9C0E2 HS # HGNC HGNC:17796 XPO4 # InterPro IPR011989 ARM-like # InterPro IPR014877 CRM1_C_dom # InterPro IPR016024 ARM-type_fold # MIM 611449 gene # Organism XPO4_HUMAN Homo sapiens (Human) # Pfam PF08767 CRM1_C # Proteomes UP000005640 Chromosome 13 # RecName XPO4_HUMAN Exportin-4 # RefSeq NP_071904 NM_022459.4 # SEQUENCE CAUTION Sequence=BAB14409.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the exportin family. {ECO 0000305}. # SUBCELLULAR LOCATION XPO4_HUMAN Cytoplasm {ECO 0000269|PubMed 16449645}. Nucleus {ECO 0000269|PubMed 16449645}. Note=Shuttles between the nucleus and the cytoplasm. # SUBUNIT XPO4_HUMAN Found in a complex with XPO4, Ran and EIF5A. Found in a complex with XPO4, Ran and SMAD3. Interacts with SMAD3. Interacts with Ran and cargo proteins in a GTP-dependent manner. {ECO 0000269|PubMed 10944119, ECO 0000269|PubMed 16449645}. # SUPFAM SSF48371 SSF48371; 5 # TCDB 1.I.1.1 the nuclear pore complex (npc) family # UCSC uc001unq human # eggNOG ENOG410XNNN LUCA # eggNOG KOG4541 Eukaryota BLAST swissprot:XPO4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:XPO4_HUMAN BioCyc ZFISH:ENSG00000132953-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000132953-MONOMER COXPRESdb 64328 http://coxpresdb.jp/data/gene/64328.shtml CleanEx HS_XPO4 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_XPO4 DOI 10.1016/j.cell.2006.09.026 http://dx.doi.org/10.1016/j.cell.2006.09.026 DOI 10.1016/j.molcel.2008.07.007 http://dx.doi.org/10.1016/j.molcel.2008.07.007 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature02379 http://dx.doi.org/10.1038/nature02379 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1093/dnares/7.6.347 http://dx.doi.org/10.1093/dnares/7.6.347 DOI 10.1093/emboj/19.16.4362 http://dx.doi.org/10.1093/emboj/19.16.4362 DOI 10.1126/scisignal.2000007 http://dx.doi.org/10.1126/scisignal.2000007 DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 DOI 10.1126/scisignal.2001570 http://dx.doi.org/10.1126/scisignal.2001570 DOI 10.1128/MCB.26.4.1318-1332.2006 http://dx.doi.org/10.1128/MCB.26.4.1318-1332.2006 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AB051508 http://www.ebi.ac.uk/ena/data/view/AB051508 EMBL AK023108 http://www.ebi.ac.uk/ena/data/view/AK023108 EMBL AL356285 http://www.ebi.ac.uk/ena/data/view/AL356285 EMBL AL356285 http://www.ebi.ac.uk/ena/data/view/AL356285 EMBL AL512652 http://www.ebi.ac.uk/ena/data/view/AL512652 EMBL AL512652 http://www.ebi.ac.uk/ena/data/view/AL512652 EMBL AL831819 http://www.ebi.ac.uk/ena/data/view/AL831819 Ensembl ENST00000255305 http://www.ensembl.org/id/ENST00000255305 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005643 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005643 GO_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_function GO:0005049 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005049 GO_function GO:0008536 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008536 GO_process GO:0046827 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046827 GOslim_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_function GO:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 Gene3D 1.25.10.10 http://www.cathdb.info/version/latest/superfamily/1.25.10.10 GeneCards XPO4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=XPO4 GeneID 64328 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=64328 GeneTree ENSGT00730000111055 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00730000111055 H-InvDB HIX0011162 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0011162 HGNC HGNC:17796 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:17796 HOGENOM HOG000154878 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000154878&db=HOGENOM6 HOVERGEN HBG023214 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG023214&db=HOVERGEN HPA HPA053768 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA053768 InParanoid Q9C0E2 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9C0E2 IntAct Q9C0E2 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9C0E2* InterPro IPR011989 http://www.ebi.ac.uk/interpro/entry/IPR011989 InterPro IPR014877 http://www.ebi.ac.uk/interpro/entry/IPR014877 InterPro IPR016024 http://www.ebi.ac.uk/interpro/entry/IPR016024 Jabion 64328 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=64328 KEGG_Gene hsa:64328 http://www.genome.jp/dbget-bin/www_bget?hsa:64328 MIM 611449 http://www.ncbi.nlm.nih.gov/omim/611449 OMA KQFARRS http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=KQFARRS PSORT swissprot:XPO4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:XPO4_HUMAN PSORT-B swissprot:XPO4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:XPO4_HUMAN PSORT2 swissprot:XPO4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:XPO4_HUMAN Pfam PF08767 http://pfam.xfam.org/family/PF08767 PharmGKB PA134866468 http://www.pharmgkb.org/do/serve?objId=PA134866468&objCls=Gene Phobius swissprot:XPO4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:XPO4_HUMAN PhylomeDB Q9C0E2 http://phylomedb.org/?seqid=Q9C0E2 ProteinModelPortal Q9C0E2 http://www.proteinmodelportal.org/query/uniprot/Q9C0E2 PubMed 10944119 http://www.ncbi.nlm.nih.gov/pubmed/10944119 PubMed 11214970 http://www.ncbi.nlm.nih.gov/pubmed/11214970 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15057823 http://www.ncbi.nlm.nih.gov/pubmed/15057823 PubMed 16449645 http://www.ncbi.nlm.nih.gov/pubmed/16449645 PubMed 17081983 http://www.ncbi.nlm.nih.gov/pubmed/17081983 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 18691976 http://www.ncbi.nlm.nih.gov/pubmed/18691976 PubMed 19690332 http://www.ncbi.nlm.nih.gov/pubmed/19690332 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 21406692 http://www.ncbi.nlm.nih.gov/pubmed/21406692 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 RefSeq NP_071904 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_071904 SMR Q9C0E2 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9C0E2 STRING 9606.ENSP00000255305 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000255305&targetmode=cogs SUPFAM SSF48371 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48371 TCDB 1.I.1.1 http://www.tcdb.org/search/result.php?tc=1.I.1.1 UCSC uc001unq http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001unq&org=rat UniGene Hs.507452 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.507452 UniProtKB XPO4_HUMAN http://www.uniprot.org/uniprot/XPO4_HUMAN UniProtKB-AC Q9C0E2 http://www.uniprot.org/uniprot/Q9C0E2 charge swissprot:XPO4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:XPO4_HUMAN eggNOG ENOG410XNNN http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XNNN eggNOG KOG4541 http://eggnogapi.embl.de/nog_data/html/tree/KOG4541 epestfind swissprot:XPO4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:XPO4_HUMAN garnier swissprot:XPO4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:XPO4_HUMAN helixturnhelix swissprot:XPO4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:XPO4_HUMAN hmoment swissprot:XPO4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:XPO4_HUMAN iep swissprot:XPO4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:XPO4_HUMAN inforesidue swissprot:XPO4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:XPO4_HUMAN neXtProt NX_Q9C0E2 http://www.nextprot.org/db/entry/NX_Q9C0E2 octanol swissprot:XPO4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:XPO4_HUMAN pepcoil swissprot:XPO4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:XPO4_HUMAN pepdigest swissprot:XPO4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:XPO4_HUMAN pepinfo swissprot:XPO4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:XPO4_HUMAN pepnet swissprot:XPO4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:XPO4_HUMAN pepstats swissprot:XPO4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:XPO4_HUMAN pepwheel swissprot:XPO4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:XPO4_HUMAN pepwindow swissprot:XPO4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:XPO4_HUMAN sigcleave swissprot:XPO4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:XPO4_HUMAN ## Database ID URL or Descriptions # AltName MOT11_HUMAN Solute carrier family 16 member 11 # BioGrid 127822 4 # CAUTION It is uncertain whether Met-1 or Met-25 is the initiator. {ECO 0000305}. # CDD cd06174 MFS # DISEASE MOT11_HUMAN Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM 125853] A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to the body's own insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. {ECO 0000269|PubMed 24390345}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. Variants Ile-113, Gly-127, Ser-340 and Thr-443 are individually associated with a 20% increased risk of NIDDM. These variants are present at 50% frequency in Native-American samples, 10% in east Asian, while they are rare in European and African samples populations. These haplotypes probably derive from H.sapiens neanderthalensis (Neanderthal) introgression (PubMed 24390345). {ECO 0000269|PubMed 24390345}. # Ensembl ENST00000308009 ENSP00000310490; ENSG00000174326 # ExpressionAtlas Q8NCK7 baseline and differential # FUNCTION MOT11_HUMAN Proton-linked monocarboxylate transporter. May catalyze the transport of monocarboxylates across the plasma membrane (Probable). Probably involved in hepatic lipid metabolism overexpression results in an increase of triacylglycerol(TAG) levels, small increases in intracellular diacylglycerols and decreases in lysophosphatidylcholine, cholesterol ester and sphingomyelin lipids. {ECO 0000269|PubMed 24390345, ECO 0000305}. # GO_component GO:0005789 endoplasmic reticulum membrane; IDA:UniProtKB. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_function GO:0015129 lactate transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015293 symporter activity; IEA:UniProtKB-KW. # GO_process GO:0006629 lipid metabolic process; IDA:UniProtKB. # GO_process GO:0035879 plasma membrane lactate transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006629 lipid metabolic process # GOslim_process GO:0055085 transmembrane transport # Genevisible Q8NCK7 HS # HGNC HGNC:23093 SLC16A11 # InterPro IPR011701 MFS # InterPro IPR020846 MFS_dom # InterPro IPR030769 MCT11 # KEGG_Brite ko02000 Transporters # KEGG_Brite ko02001 Solute carrier family # MIM 125853 phenotype # Organism MOT11_HUMAN Homo sapiens (Human) # PANTHER PTHR11360:SF80 PTHR11360:SF80 # PROSITE PS50850 MFS # Pfam PF07690 MFS_1 # Proteomes UP000005640 Chromosome 17 # RecName MOT11_HUMAN Monocarboxylate transporter 11 # RefSeq NP_699188 NM_153357.1 # SIMILARITY Belongs to the major facilitator superfamily. Monocarboxylate porter (TC 2.A.1.13) family. {ECO 0000305}. # SUBCELLULAR LOCATION MOT11_HUMAN Endoplasmic reticulum membrane {ECO 0000269|PubMed 24390345}; Multi-pass membrane protein {ECO 0000255}. Cell membrane {ECO 0000255}; Multi-pass membrane protein {ECO 0000255}. # SUPFAM SSF103473 SSF103473 # TCDB 2.A.1.13.13 the major facilitator superfamily (mfs) # TISSUE SPECIFICITY Expressed in liver, salivary gland and thyroid. {ECO:0000269|PubMed 24390345}. # UCSC uc002gei human # eggNOG COG0477 LUCA # eggNOG KOG2504 Eukaryota BLAST swissprot:MOT11_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:MOT11_HUMAN BioCyc ZFISH:ENSG00000174326-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000174326-MONOMER COXPRESdb 162515 http://coxpresdb.jp/data/gene/162515.shtml CleanEx HS_SLC16A11 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC16A11 DOI 10.1038/nature12828 http://dx.doi.org/10.1038/nature12828 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AK074674 http://www.ebi.ac.uk/ena/data/view/AK074674 EMBL BC093860 http://www.ebi.ac.uk/ena/data/view/BC093860 EMBL BC093886 http://www.ebi.ac.uk/ena/data/view/BC093886 Ensembl ENST00000308009 http://www.ensembl.org/id/ENST00000308009 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005789 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005789 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0015129 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015129 GO_function GO:0015293 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015293 GO_process GO:0006629 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006629 GO_process GO:0035879 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035879 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006629 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006629 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC16A11 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC16A11 GeneID 162515 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=162515 GeneTree ENSGT00760000118926 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118926 HGNC HGNC:23093 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:23093 HOGENOM HOG000280688 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000280688&db=HOGENOM6 HOVERGEN HBG106552 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG106552&db=HOVERGEN InParanoid Q8NCK7 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8NCK7 InterPro IPR011701 http://www.ebi.ac.uk/interpro/entry/IPR011701 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 InterPro IPR030769 http://www.ebi.ac.uk/interpro/entry/IPR030769 Jabion 162515 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=162515 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:162515 http://www.genome.jp/dbget-bin/www_bget?hsa:162515 KEGG_Orthology KO:K08188 http://www.genome.jp/dbget-bin/www_bget?KO:K08188 MIM 125853 http://www.ncbi.nlm.nih.gov/omim/125853 OMA QDTAWIS http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=QDTAWIS OrthoDB EOG091G0JKH http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0JKH PANTHER PTHR11360:SF80 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11360:SF80 PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PSORT swissprot:MOT11_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:MOT11_HUMAN PSORT-B swissprot:MOT11_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:MOT11_HUMAN PSORT2 swissprot:MOT11_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:MOT11_HUMAN Pfam PF07690 http://pfam.xfam.org/family/PF07690 PharmGKB PA134976903 http://www.pharmgkb.org/do/serve?objId=PA134976903&objCls=Gene Phobius swissprot:MOT11_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:MOT11_HUMAN PhylomeDB Q8NCK7 http://phylomedb.org/?seqid=Q8NCK7 ProteinModelPortal Q8NCK7 http://www.proteinmodelportal.org/query/uniprot/Q8NCK7 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 24390345 http://www.ncbi.nlm.nih.gov/pubmed/24390345 RefSeq NP_699188 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_699188 STRING 9606.ENSP00000310490 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000310490&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.1.13.13 http://www.tcdb.org/search/result.php?tc=2.A.1.13.13 UCSC uc002gei http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002gei&org=rat UniGene Hs.336564 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.336564 UniProtKB MOT11_HUMAN http://www.uniprot.org/uniprot/MOT11_HUMAN UniProtKB-AC Q8NCK7 http://www.uniprot.org/uniprot/Q8NCK7 charge swissprot:MOT11_HUMAN http://rest.g-language.org/emboss/charge/swissprot:MOT11_HUMAN eggNOG COG0477 http://eggnogapi.embl.de/nog_data/html/tree/COG0477 eggNOG KOG2504 http://eggnogapi.embl.de/nog_data/html/tree/KOG2504 epestfind swissprot:MOT11_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:MOT11_HUMAN garnier swissprot:MOT11_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:MOT11_HUMAN helixturnhelix swissprot:MOT11_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:MOT11_HUMAN hmoment swissprot:MOT11_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:MOT11_HUMAN iep swissprot:MOT11_HUMAN http://rest.g-language.org/emboss/iep/swissprot:MOT11_HUMAN inforesidue swissprot:MOT11_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:MOT11_HUMAN neXtProt NX_Q8NCK7 http://www.nextprot.org/db/entry/NX_Q8NCK7 octanol swissprot:MOT11_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:MOT11_HUMAN pepcoil swissprot:MOT11_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:MOT11_HUMAN pepdigest swissprot:MOT11_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:MOT11_HUMAN pepinfo swissprot:MOT11_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:MOT11_HUMAN pepnet swissprot:MOT11_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:MOT11_HUMAN pepstats swissprot:MOT11_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:MOT11_HUMAN pepwheel swissprot:MOT11_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:MOT11_HUMAN pepwindow swissprot:MOT11_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:MOT11_HUMAN sigcleave swissprot:MOT11_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:MOT11_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS AT1A4_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q13733-1; Sequence=Displayed; Name=2; IsoId=Q13733-2; Sequence=VSP_007364; Note=No experimental confirmation available.; # AltName AT1A4_HUMAN Sodium pump subunit alpha-4 # BioGrid 106970 9 # CATALYTIC ACTIVITY AT1A4_HUMAN ATP + H(2)O + Na(+)(In) + K(+)(Out) = ADP + phosphate + Na(+)(Out) + K(+)(In). # CCDS CCDS1197 -. [Q13733-1] # CCDS CCDS44255 -. [Q13733-2] # ChiTaRS ATP1A4 human # ENZYME REGULATION Specifically inhibited by an endogenous cardiac glycoside, ouabain. {ECO:0000269|PubMed 16175638}. # Ensembl ENST00000368081 ENSP00000357060; ENSG00000132681. [Q13733-1] # Ensembl ENST00000470705 ENSP00000433094; ENSG00000132681. [Q13733-2] # ExpressionAtlas Q13733 baseline and differential # FUNCTION AT1A4_HUMAN This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of sodium and potassium ions, providing the energy for active transport of various nutrients. Plays a role in sperm motility. # GO_component AT1A4_HUMAN GO 0005890 sodium potassium-exchanging ATPase complex; TAS UniProtKB. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; NAS:UniProtKB. # GO_component GO:0043231 intracellular membrane-bounded organelle; IBA:GO_Central. # GO_function AT1A4_HUMAN GO 0005391 sodium potassium-exchanging ATPase activity; TAS UniProtKB. # GO_function GO:0005524 ATP binding; IEA:UniProtKB-KW. # GO_function GO:0046872 metal ion binding; IEA:UniProtKB-KW. # GO_process GO:0006813 potassium ion transport; TAS:UniProtKB. # GO_process GO:0006814 sodium ion transport; TAS:UniProtKB. # GO_process GO:0006883 cellular sodium ion homeostasis; IBA:GO_Central. # GO_process GO:0007283 spermatogenesis; IEA:Ensembl. # GO_process GO:0009566 fertilization; IEA:Ensembl. # GO_process GO:0010107 potassium ion import; IBA:GO_Central. # GO_process GO:0015991 ATP hydrolysis coupled proton transport; TAS:UniProtKB. # GO_process GO:0030007 cellular potassium ion homeostasis; IBA:GO_Central. # GO_process GO:0030317 flagellated sperm motility; IDA:UniProtKB. # GO_process GO:0030641 regulation of cellular pH; IDA:UniProtKB. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0036376 sodium ion export from cell; IBA:GO_Central. # GO_process GO:0042391 regulation of membrane potential; IEA:Ensembl. # GO_process GO:1903779 regulation of cardiac conduction; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0048870 cell motility # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.20.1110.10 -; 2. # Gene3D 2.70.150.10 -; 2. # Gene3D 3.40.1110.10 -; 1. # Genevisible Q13733 HS # HGNC HGNC:14073 ATP1A4 # InterPro IPR001757 P_typ_ATPase # InterPro IPR004014 ATPase_P-typ_cation-transptr_N # InterPro IPR005775 P-type_ATPase_IIC # InterPro IPR006068 ATPase_P-typ_cation-transptr_C # InterPro IPR008250 ATPase_P-typ_transduc_dom_A # InterPro IPR018303 ATPase_P-typ_P_site # InterPro IPR023214 HAD-like_dom # InterPro IPR023298 ATPase_P-typ_TM_dom # InterPro IPR023299 ATPase_P-typ_cyto_domN # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko01000 Enzymes # KEGG_Pathway ko04260 Cardiac muscle contraction # KEGG_Pathway ko04960 Aldosterone-regulated sodium reabsorption # KEGG_Pathway ko04961 Endocrine and other factor-regulated calcium reabsorption # KEGG_Pathway ko04964 Proximal tubule bicarbonate reclamation # KEGG_Pathway ko04970 Salivary secretion # KEGG_Pathway ko04971 Gastric acid secretion # KEGG_Pathway ko04972 Pancreatic secretion # KEGG_Pathway ko04973 Carbohydrate digestion and absorption # KEGG_Pathway ko04974 Protein digestion and absorption # KEGG_Pathway ko04976 Bile secretion # KEGG_Pathway ko04978 Mineral absorption # MIM 607321 gene # Organism AT1A4_HUMAN Homo sapiens (Human) # PROSITE PS00154 ATPASE_E1_E2 # Pfam PF00122 E1-E2_ATPase # Pfam PF00689 Cation_ATPase_C # Pfam PF00690 Cation_ATPase_N # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-5578775 Ion homeostasis # Reactome R-HSA-936837 Ion transport by P-type ATPases # RecName AT1A4_HUMAN Sodium/potassium-transporting ATPase subunit alpha-4 # RefSeq NP_001001734 NM_001001734.1. [Q13733-2] # RefSeq NP_653300 NM_144699.3. [Q13733-1] # SEQUENCE CAUTION Sequence=AAQ07964.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAC05228.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIC subfamily. {ECO 0000305}. # SMART SM00831 Cation_ATPase_N # SUBCELLULAR LOCATION AT1A4_HUMAN Cell membrane {ECO 0000269|PubMed 16175638}; Multi-pass membrane protein {ECO 0000269|PubMed 16175638}. Note=In mature sperm, located in the principle piece of the sperm flagellum. # SUBUNIT Composed of three subunits alpha (catalytic), beta and gamma. # SUPFAM SSF56784 SSF56784; 2 # SUPFAM SSF81660 SSF81660 # TIGRFAMs TIGR01106 ATPase-IIC_X-K # TIGRFAMs TIGR01494 ATPase_P-type; 2 # TISSUE SPECIFICITY AT1A4_HUMAN Specifically expressed in testis. Found in very low levels in skeletal muscle. Expressed in mature sperm (at protein level). # UCSC uc001fve human. [Q13733-1] # eggNOG COG0474 LUCA # eggNOG KOG0203 Eukaryota BLAST swissprot:AT1A4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:AT1A4_HUMAN BioCyc ZFISH:HS05675-MONOMER http://biocyc.org/getid?id=ZFISH:HS05675-MONOMER COXPRESdb 480 http://coxpresdb.jp/data/gene/480.shtml CleanEx HS_ATP1A4 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ATP1A4 DOI 10.1002/mrd.20383 http://dx.doi.org/10.1002/mrd.20383 DOI 10.1016/S0378-1119(02)00647-9 http://dx.doi.org/10.1016/S0378-1119(02)00647-9 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.91.26.12952 http://dx.doi.org/10.1073/pnas.91.26.12952 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EC_number EC:3.6.3.9 http://www.genome.jp/dbget-bin/www_bget?EC:3.6.3.9 EMBL AF310646 http://www.ebi.ac.uk/ena/data/view/AF310646 EMBL AF352828 http://www.ebi.ac.uk/ena/data/view/AF352828 EMBL AF390027 http://www.ebi.ac.uk/ena/data/view/AF390027 EMBL AF421887 http://www.ebi.ac.uk/ena/data/view/AF421887 EMBL AF430843 http://www.ebi.ac.uk/ena/data/view/AF430843 EMBL AF459737 http://www.ebi.ac.uk/ena/data/view/AF459737 EMBL AF506797 http://www.ebi.ac.uk/ena/data/view/AF506797 EMBL AH002997 http://www.ebi.ac.uk/ena/data/view/AH002997 EMBL AK098076 http://www.ebi.ac.uk/ena/data/view/AK098076 EMBL AL121987 http://www.ebi.ac.uk/ena/data/view/AL121987 EMBL AY039031 http://www.ebi.ac.uk/ena/data/view/AY039031 EMBL BC028297 http://www.ebi.ac.uk/ena/data/view/BC028297 EMBL BC094801 http://www.ebi.ac.uk/ena/data/view/BC094801 ENZYME 3.6.3.9 http://enzyme.expasy.org/EC/3.6.3.9 Ensembl ENST00000368081 http://www.ensembl.org/id/ENST00000368081 Ensembl ENST00000470705 http://www.ensembl.org/id/ENST00000470705 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0005890 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005890 GO_component GO:0043231 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043231 GO_function GO:0005391 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005391 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0046872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046872 GO_process GO:0006813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006813 GO_process GO:0006814 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006814 GO_process GO:0006883 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006883 GO_process GO:0007283 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007283 GO_process GO:0009566 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009566 GO_process GO:0010107 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010107 GO_process GO:0015991 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015991 GO_process GO:0030007 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030007 GO_process GO:0030317 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030317 GO_process GO:0030641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030641 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0036376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0036376 GO_process GO:0042391 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042391 GO_process GO:1903779 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903779 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0048870 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048870 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.20.1110.10 http://www.cathdb.info/version/latest/superfamily/1.20.1110.10 Gene3D 2.70.150.10 http://www.cathdb.info/version/latest/superfamily/2.70.150.10 Gene3D 3.40.1110.10 http://www.cathdb.info/version/latest/superfamily/3.40.1110.10 GeneCards ATP1A4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ATP1A4 GeneID 480 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=480 GeneTree ENSGT00850000132256 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00850000132256 HGNC HGNC:14073 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:14073 HOVERGEN HBG004298 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG004298&db=HOVERGEN InParanoid Q13733 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q13733 IntAct Q13733 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q13733* IntEnz 3.6.3.9 http://www.ebi.ac.uk/intenz/query?cmd=Search&q=3.6.3.9 InterPro IPR001757 http://www.ebi.ac.uk/interpro/entry/IPR001757 InterPro IPR004014 http://www.ebi.ac.uk/interpro/entry/IPR004014 InterPro IPR005775 http://www.ebi.ac.uk/interpro/entry/IPR005775 InterPro IPR006068 http://www.ebi.ac.uk/interpro/entry/IPR006068 InterPro IPR008250 http://www.ebi.ac.uk/interpro/entry/IPR008250 InterPro IPR018303 http://www.ebi.ac.uk/interpro/entry/IPR018303 InterPro IPR023214 http://www.ebi.ac.uk/interpro/entry/IPR023214 InterPro IPR023298 http://www.ebi.ac.uk/interpro/entry/IPR023298 InterPro IPR023299 http://www.ebi.ac.uk/interpro/entry/IPR023299 Jabion 480 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=480 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Gene hsa:480 http://www.genome.jp/dbget-bin/www_bget?hsa:480 KEGG_Orthology KO:K01539 http://www.genome.jp/dbget-bin/www_bget?KO:K01539 KEGG_Pathway ko04260 http://www.genome.jp/kegg-bin/show_pathway?ko04260 KEGG_Pathway ko04960 http://www.genome.jp/kegg-bin/show_pathway?ko04960 KEGG_Pathway ko04961 http://www.genome.jp/kegg-bin/show_pathway?ko04961 KEGG_Pathway ko04964 http://www.genome.jp/kegg-bin/show_pathway?ko04964 KEGG_Pathway ko04970 http://www.genome.jp/kegg-bin/show_pathway?ko04970 KEGG_Pathway ko04971 http://www.genome.jp/kegg-bin/show_pathway?ko04971 KEGG_Pathway ko04972 http://www.genome.jp/kegg-bin/show_pathway?ko04972 KEGG_Pathway ko04973 http://www.genome.jp/kegg-bin/show_pathway?ko04973 KEGG_Pathway ko04974 http://www.genome.jp/kegg-bin/show_pathway?ko04974 KEGG_Pathway ko04976 http://www.genome.jp/kegg-bin/show_pathway?ko04976 KEGG_Pathway ko04978 http://www.genome.jp/kegg-bin/show_pathway?ko04978 MIM 607321 http://www.ncbi.nlm.nih.gov/omim/607321 OMA KSSDTWF http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=KSSDTWF OrthoDB EOG091G01BB http://cegg.unige.ch/orthodb/results?searchtext=EOG091G01BB PROSITE PS00154 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00154 PSORT swissprot:AT1A4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:AT1A4_HUMAN PSORT-B swissprot:AT1A4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:AT1A4_HUMAN PSORT2 swissprot:AT1A4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:AT1A4_HUMAN Pfam PF00122 http://pfam.xfam.org/family/PF00122 Pfam PF00689 http://pfam.xfam.org/family/PF00689 Pfam PF00690 http://pfam.xfam.org/family/PF00690 PharmGKB PA65 http://www.pharmgkb.org/do/serve?objId=PA65&objCls=Gene Phobius swissprot:AT1A4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:AT1A4_HUMAN PhylomeDB Q13733 http://phylomedb.org/?seqid=Q13733 ProteinModelPortal Q13733 http://www.proteinmodelportal.org/query/uniprot/Q13733 PubMed 12119109 http://www.ncbi.nlm.nih.gov/pubmed/12119109 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16175638 http://www.ncbi.nlm.nih.gov/pubmed/16175638 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 7809153 http://www.ncbi.nlm.nih.gov/pubmed/7809153 Reactome R-HSA-5578775 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5578775 Reactome R-HSA-936837 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-936837 RefSeq NP_001001734 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001001734 RefSeq NP_653300 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_653300 SMART SM00831 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00831 SMR Q13733 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q13733 STRING 9606.ENSP00000357060 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000357060&targetmode=cogs SUPFAM SSF56784 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF56784 SUPFAM SSF81660 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81660 TIGRFAMs TIGR01106 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01106 TIGRFAMs TIGR01494 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01494 UCSC uc001fve http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001fve&org=rat UniGene Hs.662219 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.662219 UniProtKB AT1A4_HUMAN http://www.uniprot.org/uniprot/AT1A4_HUMAN UniProtKB-AC Q13733 http://www.uniprot.org/uniprot/Q13733 charge swissprot:AT1A4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:AT1A4_HUMAN eggNOG COG0474 http://eggnogapi.embl.de/nog_data/html/tree/COG0474 eggNOG KOG0203 http://eggnogapi.embl.de/nog_data/html/tree/KOG0203 epestfind swissprot:AT1A4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:AT1A4_HUMAN garnier swissprot:AT1A4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:AT1A4_HUMAN helixturnhelix swissprot:AT1A4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:AT1A4_HUMAN hmoment swissprot:AT1A4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:AT1A4_HUMAN iep swissprot:AT1A4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:AT1A4_HUMAN inforesidue swissprot:AT1A4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:AT1A4_HUMAN neXtProt NX_Q13733 http://www.nextprot.org/db/entry/NX_Q13733 octanol swissprot:AT1A4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:AT1A4_HUMAN pepcoil swissprot:AT1A4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:AT1A4_HUMAN pepdigest swissprot:AT1A4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:AT1A4_HUMAN pepinfo swissprot:AT1A4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:AT1A4_HUMAN pepnet swissprot:AT1A4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:AT1A4_HUMAN pepstats swissprot:AT1A4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:AT1A4_HUMAN pepwheel swissprot:AT1A4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:AT1A4_HUMAN pepwindow swissprot:AT1A4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:AT1A4_HUMAN sigcleave swissprot:AT1A4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:AT1A4_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS GBRB2_HUMAN Event=Alternative splicing; Named isoforms=4; Name=1; Synonyms=Long, Beta-2L; IsoId=P47870-2; Sequence=Displayed; Name=2; Synonyms=Short, Beta-2S; IsoId=P47870-1; Sequence=VSP_038825; Name=3; Synonyms=Beta-2S1; IsoId=P47870-3; Sequence=VSP_038823, VSP_038824, VSP_038828; Name=4; Synonyms=Beta-2S2; IsoId=P47870-4; Sequence=VSP_038825, VSP_038826, VSP_038827; # AltName GBRB2_HUMAN GABA(A) receptor subunit beta-2 # BioGrid 108835 4 # CCDS CCDS4354 -. [P47870-1] # CCDS CCDS4355 -. [P47870-2] # DrugBank DB00186 Lorazepam # DrugBank DB00189 Ethchlorvynol # DrugBank DB00228 Enflurane # DrugBank DB00231 Temazepam # DrugBank DB00237 Butabarbital # DrugBank DB00241 Butalbital # DrugBank DB00273 Topiramate # DrugBank DB00292 Etomidate # DrugBank DB00306 Talbutal # DrugBank DB00312 Pentobarbital # DrugBank DB00334 Olanzapine # DrugBank DB00349 Clobazam # DrugBank DB00371 Meprobamate # DrugBank DB00402 Eszopiclone # DrugBank DB00404 Alprazolam # DrugBank DB00475 Chlordiazepoxide # DrugBank DB00543 Amoxapine # DrugBank DB00546 Adinazolam # DrugBank DB00628 Clorazepate # DrugBank DB00659 Acamprosate # DrugBank DB00683 Midazolam # DrugBank DB00690 Flurazepam # DrugBank DB00753 Isoflurane # DrugBank DB00794 Primidone # DrugBank DB00801 Halazepam # DrugBank DB00818 Propofol # DrugBank DB00829 Diazepam # DrugBank DB00842 Oxazepam # DrugBank DB00897 Triazolam # DrugBank DB00898 Ethanol # DrugBank DB01028 Methoxyflurane # DrugBank DB01049 Ergoloid mesylate # DrugBank DB01068 Clonazepam # DrugBank DB01107 Methyprylon # DrugBank DB01159 Halothane # DrugBank DB01189 Desflurane # DrugBank DB01205 Flumazenil # DrugBank DB01215 Estazolam # DrugBank DB01236 Sevoflurane # DrugBank DB01381 Ginkgo biloba # DrugBank DB01437 Glutethimide # DrugBank DB01558 Bromazepam # DrugBank DB01559 Clotiazepam # DrugBank DB01567 Fludiazepam # DrugBank DB01588 Prazepam # DrugBank DB01589 Quazepam # DrugBank DB01594 Cinolazepam # DrugBank DB01595 Nitrazepam # DrugBank DB06716 Fospropofol # Ensembl ENST00000274547 ENSP00000274547; ENSG00000145864. [P47870-2] # Ensembl ENST00000353437 ENSP00000274546; ENSG00000145864. [P47870-1] # Ensembl ENST00000393959 ENSP00000377531; ENSG00000145864. [P47870-2] # Ensembl ENST00000520240 ENSP00000429320; ENSG00000145864. [P47870-1] # Ensembl ENST00000612710 ENSP00000480066; ENSG00000145864. [P47870-3] # ExpressionAtlas P47870 baseline and differential # FUNCTION GBRB2_HUMAN Component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the vertebrate brain. Functions also as histamine receptor and mediates cellular responses to histamine. Functions as receptor for diazepines and various anesthetics, such as pentobarbital; these are bound at a separate allosteric effector binding site. Functions as ligand- gated chloride channel. {ECO 0000269|PubMed 19763268, ECO 0000269|PubMed 8264558}. # GO_component GO:0005829 cytosol; IEA:Ensembl. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; ISS:UniProtKB. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0034707 chloride channel complex; IEA:UniProtKB-KW. # GO_component GO:0045211 postsynaptic membrane; IEA:UniProtKB-SubCell. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_component GO:1902711 GABA-A receptor complex; ISS:UniProtKB. # GO_function GO:0004890 GABA-A receptor activity; ISS:BHF-UCL. # GO_function GO:0005237 inhibitory extracellular ligand-gated ion channel activity; IEA:Ensembl. # GO_function GO:0005254 chloride channel activity; ISS:UniProtKB. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0007214 gamma-aminobutyric acid signaling pathway; TAS:ProtInc. # GO_process GO:0007268 chemical synaptic transmission; TAS:ProtInc. # GO_process GO:0007605 sensory perception of sound; IEA:Ensembl. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0043524 negative regulation of neuron apoptotic process; IEA:Ensembl. # GO_process GO:0051932 synaptic transmission, GABAergic; ISS:BHF-UCL. # GO_process GO:0060119 inner ear receptor cell development; IEA:Ensembl. # GO_process GO:0060384 innervation; IEA:Ensembl. # GO_process GO:0071420 cellular response to histamine; ISS:UniProtKB. # GO_process GO:0090102 cochlea development; IEA:Ensembl. # GO_process GO:1902476 chloride transmembrane transport; ISS:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005829 cytosol # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0050877 neurological system process # GOslim_process GO:0055085 transmembrane transport # Gene3D 2.70.170.10 -; 1. # Genevisible P47870 HS # HGNC HGNC:4082 GABRB2 # InterPro IPR002289 GABAAb_rcpt # InterPro IPR006028 GABAA/Glycine_rcpt # InterPro IPR006029 Neurotrans-gated_channel_TM # InterPro IPR006201 Neur_channel # InterPro IPR006202 Neur_chan_lig-bd # InterPro IPR018000 Neurotransmitter_ion_chnl_CS # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04080 Neuroactive ligand-receptor interaction # KEGG_Pathway ko04723 Retrograde endocannabinoid signaling # KEGG_Pathway ko04726 Serotonergic synapse # KEGG_Pathway ko04727 GABAergic synapse # KEGG_Pathway ko05032 Morphine addiction # KEGG_Pathway ko05033 Nicotine addiction # MIM 600232 gene # Organism GBRB2_HUMAN Homo sapiens (Human) # PANTHER PTHR18945 PTHR18945; 2 # PIR I52656 I52656 # PRINTS PR00252 NRIONCHANNEL # PRINTS PR00253 GABAARECEPTR # PRINTS PR01160 GABAARBETA # PROSITE PS00236 NEUROTR_ION_CHANNEL # Pfam PF02931 Neur_chan_LBD # Pfam PF02932 Neur_chan_memb # Proteomes UP000005640 Chromosome 5 # Reactome R-HSA-112314 Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell # Reactome R-HSA-975298 Ligand-gated ion channel transport # Reactome R-HSA-977441 GABA A receptor activation # RecName GBRB2_HUMAN Gamma-aminobutyric acid receptor subunit beta-2 # RefSeq NP_000804 NM_000813.2. [P47870-1] # RefSeq NP_068711 NM_021911.2. [P47870-2] # SIMILARITY Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRB2 sub-subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION GBRB2_HUMAN Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane {ECO 0000269|PubMed 19763268, ECO 0000269|PubMed 8264558}; Multi- pass membrane protein {ECO 0000255}. Cytoplasmic vesicle membrane {ECO 0000250|UniProtKB P63138}. # SUBUNIT GBRB2_HUMAN Heteropentamer, formed by a combination of alpha, beta, gamma, delta and rho chains (PubMed 8264558). Interacts with UBQLN1 (By similarity). Interacts with KCTD8, KCTD12 and KCTD16; this interaction determines the pharmacology and kinetics of the receptor response, the KCTD proteins markedly accelerating the GABA-B response, although to different extents (By similarity). May interact with KIF21B (By similarity). {ECO 0000250|UniProtKB P63138, ECO 0000269|PubMed 8264558}. # SUPFAM SSF63712 SSF63712 # SUPFAM SSF90112 SSF90112; 2 # TCDB 1.A.9.5 the neurotransmitter receptor, cys loop, ligand-gated ion channel (lic) family # TIGRFAMs TIGR00860 LIC # TISSUE SPECIFICITY GBRB2_HUMAN Isoform 1 and isoform 2 show reduced expression in schizophrenic brain. Isoform 3 shows increased expression in schizophrenic and bipolar disorder brains while isoform 4 shows reduced expression. {ECO 0000269|PubMed 16983389, ECO 0000269|PubMed 19763268}. # UCSC uc003lyr human. [P47870-2] # WEB RESOURCE GBRB2_HUMAN Name=Protein Spotlight; Note=Forbidden fruit - Issue 56 of March 2005; URL="http //web.expasy.org/spotlight/back_issues/056"; # eggNOG ENOG410XPWH LUCA # eggNOG KOG3643 Eukaryota BLAST swissprot:GBRB2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:GBRB2_HUMAN COXPRESdb 2561 http://coxpresdb.jp/data/gene/2561.shtml CleanEx HS_GABRB2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_GABRB2 DOI 10.1016/0169-328X(94)00228-7 http://dx.doi.org/10.1016/0169-328X(94)00228-7 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1038/sj.mp.4001899 http://dx.doi.org/10.1038/sj.mp.4001899 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1371/journal.pone.0006977 http://dx.doi.org/10.1371/journal.pone.0006977 DrugBank DB00186 http://www.drugbank.ca/drugs/DB00186 DrugBank DB00189 http://www.drugbank.ca/drugs/DB00189 DrugBank DB00228 http://www.drugbank.ca/drugs/DB00228 DrugBank DB00231 http://www.drugbank.ca/drugs/DB00231 DrugBank DB00237 http://www.drugbank.ca/drugs/DB00237 DrugBank DB00241 http://www.drugbank.ca/drugs/DB00241 DrugBank DB00273 http://www.drugbank.ca/drugs/DB00273 DrugBank DB00292 http://www.drugbank.ca/drugs/DB00292 DrugBank DB00306 http://www.drugbank.ca/drugs/DB00306 DrugBank DB00312 http://www.drugbank.ca/drugs/DB00312 DrugBank DB00334 http://www.drugbank.ca/drugs/DB00334 DrugBank DB00349 http://www.drugbank.ca/drugs/DB00349 DrugBank DB00371 http://www.drugbank.ca/drugs/DB00371 DrugBank DB00402 http://www.drugbank.ca/drugs/DB00402 DrugBank DB00404 http://www.drugbank.ca/drugs/DB00404 DrugBank DB00475 http://www.drugbank.ca/drugs/DB00475 DrugBank DB00543 http://www.drugbank.ca/drugs/DB00543 DrugBank DB00546 http://www.drugbank.ca/drugs/DB00546 DrugBank DB00628 http://www.drugbank.ca/drugs/DB00628 DrugBank DB00659 http://www.drugbank.ca/drugs/DB00659 DrugBank DB00683 http://www.drugbank.ca/drugs/DB00683 DrugBank DB00690 http://www.drugbank.ca/drugs/DB00690 DrugBank DB00753 http://www.drugbank.ca/drugs/DB00753 DrugBank DB00794 http://www.drugbank.ca/drugs/DB00794 DrugBank DB00801 http://www.drugbank.ca/drugs/DB00801 DrugBank DB00818 http://www.drugbank.ca/drugs/DB00818 DrugBank DB00829 http://www.drugbank.ca/drugs/DB00829 DrugBank DB00842 http://www.drugbank.ca/drugs/DB00842 DrugBank DB00897 http://www.drugbank.ca/drugs/DB00897 DrugBank DB00898 http://www.drugbank.ca/drugs/DB00898 DrugBank DB01028 http://www.drugbank.ca/drugs/DB01028 DrugBank DB01049 http://www.drugbank.ca/drugs/DB01049 DrugBank DB01068 http://www.drugbank.ca/drugs/DB01068 DrugBank DB01107 http://www.drugbank.ca/drugs/DB01107 DrugBank DB01159 http://www.drugbank.ca/drugs/DB01159 DrugBank DB01189 http://www.drugbank.ca/drugs/DB01189 DrugBank DB01205 http://www.drugbank.ca/drugs/DB01205 DrugBank DB01215 http://www.drugbank.ca/drugs/DB01215 DrugBank DB01236 http://www.drugbank.ca/drugs/DB01236 DrugBank DB01381 http://www.drugbank.ca/drugs/DB01381 DrugBank DB01437 http://www.drugbank.ca/drugs/DB01437 DrugBank DB01558 http://www.drugbank.ca/drugs/DB01558 DrugBank DB01559 http://www.drugbank.ca/drugs/DB01559 DrugBank DB01567 http://www.drugbank.ca/drugs/DB01567 DrugBank DB01588 http://www.drugbank.ca/drugs/DB01588 DrugBank DB01589 http://www.drugbank.ca/drugs/DB01589 DrugBank DB01594 http://www.drugbank.ca/drugs/DB01594 DrugBank DB01595 http://www.drugbank.ca/drugs/DB01595 DrugBank DB06716 http://www.drugbank.ca/drugs/DB06716 EMBL AK289730 http://www.ebi.ac.uk/ena/data/view/AK289730 EMBL AK289815 http://www.ebi.ac.uk/ena/data/view/AK289815 EMBL BC099705 http://www.ebi.ac.uk/ena/data/view/BC099705 EMBL BC099719 http://www.ebi.ac.uk/ena/data/view/BC099719 EMBL BC105639 http://www.ebi.ac.uk/ena/data/view/BC105639 EMBL CH471062 http://www.ebi.ac.uk/ena/data/view/CH471062 EMBL GU086163 http://www.ebi.ac.uk/ena/data/view/GU086163 EMBL GU086164 http://www.ebi.ac.uk/ena/data/view/GU086164 EMBL S67368 http://www.ebi.ac.uk/ena/data/view/S67368 EMBL S77553 http://www.ebi.ac.uk/ena/data/view/S77553 EMBL S77554 http://www.ebi.ac.uk/ena/data/view/S77554 Ensembl ENST00000274547 http://www.ensembl.org/id/ENST00000274547 Ensembl ENST00000353437 http://www.ensembl.org/id/ENST00000353437 Ensembl ENST00000393959 http://www.ensembl.org/id/ENST00000393959 Ensembl ENST00000520240 http://www.ensembl.org/id/ENST00000520240 Ensembl ENST00000612710 http://www.ensembl.org/id/ENST00000612710 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0034707 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034707 GO_component GO:0045211 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045211 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_component GO:1902711 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902711 GO_function GO:0004890 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004890 GO_function GO:0005237 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005237 GO_function GO:0005254 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005254 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0007214 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007214 GO_process GO:0007268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007268 GO_process GO:0007605 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007605 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0043524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043524 GO_process GO:0051932 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051932 GO_process GO:0060119 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060119 GO_process GO:0060384 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060384 GO_process GO:0071420 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071420 GO_process GO:0090102 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090102 GO_process GO:1902476 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902476 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 2.70.170.10 http://www.cathdb.info/version/latest/superfamily/2.70.170.10 GeneCards GABRB2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=GABRB2 GeneID 2561 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=2561 GeneTree ENSGT00760000118821 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118821 HGNC HGNC:4082 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:4082 HOVERGEN HBG051707 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG051707&db=HOVERGEN HPA CAB001964 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB001964 HPA HPA067632 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA067632 InParanoid P47870 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P47870 IntAct P47870 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P47870* InterPro IPR002289 http://www.ebi.ac.uk/interpro/entry/IPR002289 InterPro IPR006028 http://www.ebi.ac.uk/interpro/entry/IPR006028 InterPro IPR006029 http://www.ebi.ac.uk/interpro/entry/IPR006029 InterPro IPR006201 http://www.ebi.ac.uk/interpro/entry/IPR006201 InterPro IPR006202 http://www.ebi.ac.uk/interpro/entry/IPR006202 InterPro IPR018000 http://www.ebi.ac.uk/interpro/entry/IPR018000 Jabion 2561 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=2561 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:2561 http://www.genome.jp/dbget-bin/www_bget?hsa:2561 KEGG_Orthology KO:K05181 http://www.genome.jp/dbget-bin/www_bget?KO:K05181 KEGG_Pathway ko04080 http://www.genome.jp/kegg-bin/show_pathway?ko04080 KEGG_Pathway ko04723 http://www.genome.jp/kegg-bin/show_pathway?ko04723 KEGG_Pathway ko04726 http://www.genome.jp/kegg-bin/show_pathway?ko04726 KEGG_Pathway ko04727 http://www.genome.jp/kegg-bin/show_pathway?ko04727 KEGG_Pathway ko05032 http://www.genome.jp/kegg-bin/show_pathway?ko05032 KEGG_Pathway ko05033 http://www.genome.jp/kegg-bin/show_pathway?ko05033 MIM 600232 http://www.ncbi.nlm.nih.gov/omim/600232 MINT MINT-268409 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-268409 OMA HMTQKKS http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=HMTQKKS OrthoDB EOG091G0805 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0805 PANTHER PTHR18945 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR18945 PRINTS PR00252 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00252 PRINTS PR00253 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00253 PRINTS PR01160 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01160 PROSITE PS00236 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00236 PSORT swissprot:GBRB2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:GBRB2_HUMAN PSORT-B swissprot:GBRB2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:GBRB2_HUMAN PSORT2 swissprot:GBRB2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:GBRB2_HUMAN Pfam PF02931 http://pfam.xfam.org/family/PF02931 Pfam PF02932 http://pfam.xfam.org/family/PF02932 PharmGKB PA28496 http://www.pharmgkb.org/do/serve?objId=PA28496&objCls=Gene Phobius swissprot:GBRB2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:GBRB2_HUMAN PhylomeDB P47870 http://phylomedb.org/?seqid=P47870 ProteinModelPortal P47870 http://www.proteinmodelportal.org/query/uniprot/P47870 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16983389 http://www.ncbi.nlm.nih.gov/pubmed/16983389 PubMed 19763268 http://www.ncbi.nlm.nih.gov/pubmed/19763268 PubMed 7707873 http://www.ncbi.nlm.nih.gov/pubmed/7707873 PubMed 8264558 http://www.ncbi.nlm.nih.gov/pubmed/8264558 Reactome R-HSA-112314 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-112314 Reactome R-HSA-975298 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-975298 Reactome R-HSA-977441 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-977441 RefSeq NP_000804 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000804 RefSeq NP_068711 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_068711 SMR P47870 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P47870 STRING 9606.ENSP00000274547 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000274547&targetmode=cogs SUPFAM SSF63712 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF63712 SUPFAM SSF90112 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF90112 TCDB 1.A.9.5 http://www.tcdb.org/search/result.php?tc=1.A.9.5 TIGRFAMs TIGR00860 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00860 UCSC uc003lyr http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003lyr&org=rat UniGene Hs.303527 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.303527 UniProtKB GBRB2_HUMAN http://www.uniprot.org/uniprot/GBRB2_HUMAN UniProtKB-AC P47870 http://www.uniprot.org/uniprot/P47870 charge swissprot:GBRB2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:GBRB2_HUMAN eggNOG ENOG410XPWH http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XPWH eggNOG KOG3643 http://eggnogapi.embl.de/nog_data/html/tree/KOG3643 epestfind swissprot:GBRB2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:GBRB2_HUMAN garnier swissprot:GBRB2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:GBRB2_HUMAN helixturnhelix swissprot:GBRB2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:GBRB2_HUMAN hmoment swissprot:GBRB2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:GBRB2_HUMAN iep swissprot:GBRB2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:GBRB2_HUMAN inforesidue swissprot:GBRB2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:GBRB2_HUMAN neXtProt NX_P47870 http://www.nextprot.org/db/entry/NX_P47870 octanol swissprot:GBRB2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:GBRB2_HUMAN pepcoil swissprot:GBRB2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:GBRB2_HUMAN pepdigest swissprot:GBRB2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:GBRB2_HUMAN pepinfo swissprot:GBRB2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:GBRB2_HUMAN pepnet swissprot:GBRB2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:GBRB2_HUMAN pepstats swissprot:GBRB2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:GBRB2_HUMAN pepwheel swissprot:GBRB2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:GBRB2_HUMAN pepwindow swissprot:GBRB2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:GBRB2_HUMAN sigcleave swissprot:GBRB2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:GBRB2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S28A3_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9HAS3-1; Sequence=Displayed; Name=2; Synonyms=hCNT3ins; IsoId=Q9HAS3-2; Sequence=VSP_053848; Note=Exhibits a shorter half-life than isoform 1, degraded via a proteasome-dependent pathway.; # AltName S28A3_HUMAN Concentrative Na(+)-nucleoside cotransporter 3 # BIOPHYSICOCHEMICAL PROPERTIES S28A3_HUMAN Kinetic parameters KM=21.6 uM for uridine {ECO 0000269|PubMed 11032837, ECO 0000269|PubMed 15861042}; KM=15.4 uM for cytidine {ECO 0000269|PubMed 11032837, ECO 0000269|PubMed 15861042}; KM=21.2 uM for thymidine {ECO 0000269|PubMed 11032837, ECO 0000269|PubMed 15861042}; KM=15.1 uM for adenosine {ECO 0000269|PubMed 11032837, ECO 0000269|PubMed 15861042}; KM=43 uM for guanosine {ECO 0000269|PubMed 11032837, ECO 0000269|PubMed 15861042}; KM=52.5 uM for inosine {ECO 0000269|PubMed 11032837, ECO 0000269|PubMed 15861042}; Vmax=25.8 pmol/min/mg enzyme for uridine uptake {ECO 0000269|PubMed 11032837, ECO 0000269|PubMed 15861042}; Vmax=32.8 pmol/min/mg enzyme for cytidine uptake {ECO 0000269|PubMed 11032837, ECO 0000269|PubMed 15861042}; Vmax=24.2 pmol/min/mg enzyme for thymidine uptake {ECO 0000269|PubMed 11032837, ECO 0000269|PubMed 15861042}; Vmax=30.4 pmol/min/mg enzyme for adenosine uptake {ECO 0000269|PubMed 11032837, ECO 0000269|PubMed 15861042}; Vmax=51.4 pmol/min/mg enzyme for guanosine uptake {ECO 0000269|PubMed 11032837, ECO 0000269|PubMed 15861042}; Vmax=44.8 pmol/min/mg enzyme for inosine uptake {ECO 0000269|PubMed 11032837, ECO 0000269|PubMed 15861042}; # CCDS CCDS6670 -. [Q9HAS3-1] # ChiTaRS SLC28A3 human # DrugBank DB00242 Cladribine # DrugBank DB00441 Gemcitabine # DrugBank DB00640 Adenosine # DrugBank DB00811 Ribavirin # DrugBank DB01033 Mercaptopurine # DrugBank DB01073 Fludarabine # Ensembl ENST00000376238 ENSP00000365413; ENSG00000197506. [Q9HAS3-1] # FUNCTION S28A3_HUMAN Sodium-dependent, pyrimidine- and purine-selective. Involved in the homeostasis of endogenous nucleosides. Exhibits the transport characteristics of the nucleoside transport system cib or N3 subtype (N3/cib) (with marked transport of both thymidine and inosine). Employs a 2 1 sodium/nucleoside ratio. Also able to transport gemcitabine, 3'-azido-3'-deoxythymidine (AZT), ribavirin and 3-deazauridine. {ECO 0000269|PubMed 11032837, ECO 0000269|PubMed 16446384, ECO 0000269|PubMed 17140564}. # GO_component GO:0005789 endoplasmic reticulum membrane; IEA:UniProtKB-SubCell. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_function S28A3_HUMAN GO 0005415 nucleoside sodium symporter activity; TAS Reactome. # GO_function S28A3_HUMAN GO 0015389 pyrimidine- and adenine-specific sodium symporter activity; IBA GO_Central. # GO_function S28A3_HUMAN GO 0015390 purine-specific nucleoside sodium symporter activity; IBA GO_Central. # GO_process GO:0015864 pyrimidine nucleoside transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # Genevisible Q9HAS3 HS # HGNC HGNC:16484 SLC28A3 # INDUCTION Up-regulated by phorbol myristate acetate (PMA) in HL- 60 cells. {ECO:0000269|PubMed 11032837}. # InterPro IPR002668 CNT_N_dom # InterPro IPR008276 C_nuclsd_transpt # InterPro IPR011642 Gate_dom # InterPro IPR011657 CNT_C_dom # InterPro IPR018270 C_nuclsd_transpt_met_bac # InterPro IPR030211 CNT3 # KEGG_Brite ko02001 Solute carrier family # MIM 608269 gene # Organism S28A3_HUMAN Homo sapiens (Human) # PANTHER PTHR10590 PTHR10590 # PANTHER PTHR10590:SF18 PTHR10590:SF18 # Pfam PF01773 Nucleos_tra2_N # Pfam PF07662 Nucleos_tra2_C # Pfam PF07670 Gate # Proteomes UP000005640 Chromosome 9 # Reactome R-HSA-83936 Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane # RecName S28A3_HUMAN Solute carrier family 28 member 3 # RefSeq NP_001186562 NM_001199633.1. [Q9HAS3-1] # RefSeq NP_071410 NM_022127.2. [Q9HAS3-1] # SIMILARITY Belongs to the concentrative nucleoside transporter (CNT) (TC 2.A.41) family. {ECO 0000305}. # SUBCELLULAR LOCATION S28A3_HUMAN Isoform 1 Cell membrane; Multi-pass membrane protein. # SUBCELLULAR LOCATION S28A3_HUMAN Isoform 2 Endoplasmic reticulum membrane; Multi-pass membrane protein. # TCDB 2.A.41.2 the concentrative nucleoside transporter (cnt) family # TIGRFAMs TIGR00804 nupC # TISSUE SPECIFICITY Expressed in pancreas, bone marrow, trachea, mammary gland, liver, prostate, and regions of intestine, brain, lung, placenta, testis, kidney, and heart. {ECO:0000269|PubMed 11032837}. # UCSC uc010mpz human. [Q9HAS3-1] # eggNOG COG1972 LUCA # eggNOG KOG3747 Eukaryota BLAST swissprot:S28A3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S28A3_HUMAN BioCyc ZFISH:G66-31706-MONOMER http://biocyc.org/getid?id=ZFISH:G66-31706-MONOMER COXPRESdb 64078 http://coxpresdb.jp/data/gene/64078.shtml CleanEx HS_SLC28A3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC28A3 DOI 10.1016/j.ejphar.2006.10.062 http://dx.doi.org/10.1016/j.ejphar.2006.10.062 DOI 10.1038/nature02465 http://dx.doi.org/10.1038/nature02465 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1038/sj.tpj.6500303 http://dx.doi.org/10.1038/sj.tpj.6500303 DOI 10.1074/jbc.M007746200 http://dx.doi.org/10.1074/jbc.M007746200 DOI 10.1096/fj.08-113902 http://dx.doi.org/10.1096/fj.08-113902 DOI 10.1097/01213011-200503000-00006 http://dx.doi.org/10.1097/01213011-200503000-00006 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1124/mol.105.018945 http://dx.doi.org/10.1124/mol.105.018945 DOI 10.1124/mol.107.041848 http://dx.doi.org/10.1124/mol.107.041848 DrugBank DB00242 http://www.drugbank.ca/drugs/DB00242 DrugBank DB00441 http://www.drugbank.ca/drugs/DB00441 DrugBank DB00640 http://www.drugbank.ca/drugs/DB00640 DrugBank DB00811 http://www.drugbank.ca/drugs/DB00811 DrugBank DB01033 http://www.drugbank.ca/drugs/DB01033 DrugBank DB01073 http://www.drugbank.ca/drugs/DB01073 EMBL AF305210 http://www.ebi.ac.uk/ena/data/view/AF305210 EMBL AK292849 http://www.ebi.ac.uk/ena/data/view/AK292849 EMBL AK304406 http://www.ebi.ac.uk/ena/data/view/AK304406 EMBL AK314039 http://www.ebi.ac.uk/ena/data/view/AK314039 EMBL AL353787 http://www.ebi.ac.uk/ena/data/view/AL353787 EMBL AL353787 http://www.ebi.ac.uk/ena/data/view/AL353787 EMBL AL356134 http://www.ebi.ac.uk/ena/data/view/AL356134 EMBL AL356134 http://www.ebi.ac.uk/ena/data/view/AL356134 EMBL BC093821 http://www.ebi.ac.uk/ena/data/view/BC093821 EMBL BC093823 http://www.ebi.ac.uk/ena/data/view/BC093823 EMBL CH471089 http://www.ebi.ac.uk/ena/data/view/CH471089 Ensembl ENST00000376238 http://www.ensembl.org/id/ENST00000376238 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005789 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005789 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0005415 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005415 GO_function GO:0015389 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015389 GO_function GO:0015390 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015390 GO_process GO:0015864 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015864 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GeneCards SLC28A3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC28A3 GeneID 64078 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=64078 GeneTree ENSGT00390000016025 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000016025 HGNC HGNC:16484 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:16484 HOGENOM HOG000267658 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000267658&db=HOGENOM6 HOVERGEN HBG054073 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG054073&db=HOVERGEN HPA HPA023311 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA023311 HPA HPA024729 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA024729 InParanoid Q9HAS3 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9HAS3 InterPro IPR002668 http://www.ebi.ac.uk/interpro/entry/IPR002668 InterPro IPR008276 http://www.ebi.ac.uk/interpro/entry/IPR008276 InterPro IPR011642 http://www.ebi.ac.uk/interpro/entry/IPR011642 InterPro IPR011657 http://www.ebi.ac.uk/interpro/entry/IPR011657 InterPro IPR018270 http://www.ebi.ac.uk/interpro/entry/IPR018270 InterPro IPR030211 http://www.ebi.ac.uk/interpro/entry/IPR030211 Jabion 64078 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=64078 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:64078 http://www.genome.jp/dbget-bin/www_bget?hsa:64078 KEGG_Orthology KO:K11536 http://www.genome.jp/dbget-bin/www_bget?KO:K11536 MIM 608269 http://www.ncbi.nlm.nih.gov/omim/608269 OMA GCCTLLN http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=GCCTLLN OrthoDB EOG091G05D5 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G05D5 PANTHER PTHR10590 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10590 PANTHER PTHR10590:SF18 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10590:SF18 PSORT swissprot:S28A3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S28A3_HUMAN PSORT-B swissprot:S28A3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S28A3_HUMAN PSORT2 swissprot:S28A3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S28A3_HUMAN Pfam PF01773 http://pfam.xfam.org/family/PF01773 Pfam PF07662 http://pfam.xfam.org/family/PF07662 Pfam PF07670 http://pfam.xfam.org/family/PF07670 PharmGKB PA426 http://www.pharmgkb.org/do/serve?objId=PA426&objCls=Gene Phobius swissprot:S28A3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S28A3_HUMAN PhylomeDB Q9HAS3 http://phylomedb.org/?seqid=Q9HAS3 ProteinModelPortal Q9HAS3 http://www.proteinmodelportal.org/query/uniprot/Q9HAS3 PubMed 11032837 http://www.ncbi.nlm.nih.gov/pubmed/11032837 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15164053 http://www.ncbi.nlm.nih.gov/pubmed/15164053 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15738947 http://www.ncbi.nlm.nih.gov/pubmed/15738947 PubMed 15861042 http://www.ncbi.nlm.nih.gov/pubmed/15861042 PubMed 16446384 http://www.ncbi.nlm.nih.gov/pubmed/16446384 PubMed 17140564 http://www.ncbi.nlm.nih.gov/pubmed/17140564 PubMed 17993510 http://www.ncbi.nlm.nih.gov/pubmed/17993510 PubMed 18827020 http://www.ncbi.nlm.nih.gov/pubmed/18827020 Reactome R-HSA-83936 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-83936 RefSeq NP_001186562 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001186562 RefSeq NP_071410 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_071410 SMR Q9HAS3 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9HAS3 STRING 9606.ENSP00000365413 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000365413&targetmode=cogs TCDB 2.A.41.2 http://www.tcdb.org/search/result.php?tc=2.A.41.2 TIGRFAMs TIGR00804 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00804 UCSC uc010mpz http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc010mpz&org=rat UniGene Hs.535966 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.535966 UniProtKB S28A3_HUMAN http://www.uniprot.org/uniprot/S28A3_HUMAN UniProtKB-AC Q9HAS3 http://www.uniprot.org/uniprot/Q9HAS3 charge swissprot:S28A3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S28A3_HUMAN eggNOG COG1972 http://eggnogapi.embl.de/nog_data/html/tree/COG1972 eggNOG KOG3747 http://eggnogapi.embl.de/nog_data/html/tree/KOG3747 epestfind swissprot:S28A3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S28A3_HUMAN garnier swissprot:S28A3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S28A3_HUMAN helixturnhelix swissprot:S28A3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S28A3_HUMAN hmoment swissprot:S28A3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S28A3_HUMAN iep swissprot:S28A3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S28A3_HUMAN inforesidue swissprot:S28A3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S28A3_HUMAN neXtProt NX_Q9HAS3 http://www.nextprot.org/db/entry/NX_Q9HAS3 octanol swissprot:S28A3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S28A3_HUMAN pepcoil swissprot:S28A3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S28A3_HUMAN pepdigest swissprot:S28A3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S28A3_HUMAN pepinfo swissprot:S28A3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S28A3_HUMAN pepnet swissprot:S28A3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S28A3_HUMAN pepstats swissprot:S28A3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S28A3_HUMAN pepwheel swissprot:S28A3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S28A3_HUMAN pepwindow swissprot:S28A3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S28A3_HUMAN sigcleave swissprot:S28A3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S28A3_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S38AA_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9HBR0-1; Sequence=Displayed; Name=2; IsoId=Q9HBR0-2; Sequence=VSP_031324, VSP_031327; Name=3; IsoId=Q9HBR0-3; Sequence=VSP_031323, VSP_031325, VSP_031326; Note=No experimental confirmation available.; # AltName S38AA_HUMAN Solute carrier family 38 member 10 # BioGrid 125874 16 # CCDS CCDS11780 -. [Q9HBR0-2] # CCDS CCDS42397 -. [Q9HBR0-1] # ChiTaRS SLC38A10 human # Ensembl ENST00000288439 ENSP00000288439; ENSG00000157637. [Q9HBR0-2] # Ensembl ENST00000374759 ENSP00000363891; ENSG00000157637. [Q9HBR0-1] # ExpressionAtlas Q9HBR0 baseline and differential # FUNCTION S38AA_HUMAN Putative sodium-dependent amino acid/proton antiporter. {ECO 0000250}. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0015171 amino acid transmembrane transporter activity; IBA:GO_Central. # GO_process GO:0003333 amino acid transmembrane transport; IBA:GO_Central. # GO_process GO:0006814 sodium ion transport; IEA:UniProtKB-KW. # GO_process GO:0060348 bone development; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0055085 transmembrane transport # Genevisible Q9HBR0 HS # HGNC HGNC:28237 SLC38A10 # IntAct Q9HBR0 10 # InterPro IPR013057 AA_transpt_TM # KEGG_Brite ko02001 Solute carrier family # MIM 616525 gene # Organism S38AA_HUMAN Homo sapiens (Human) # Pfam PF01490 Aa_trans # Proteomes UP000005640 Chromosome 17 # RecName S38AA_HUMAN Putative sodium-coupled neutral amino acid transporter 10 # RefSeq NP_001033073 NM_001037984.2. [Q9HBR0-1] # RefSeq NP_612637 NM_138570.3. [Q9HBR0-2] # SEQUENCE CAUTION Sequence=AAG17235.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAC04027.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the amino acid/polyamine transporter 2 family. {ECO 0000305}. # SUBCELLULAR LOCATION S38AA_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # TCDB 2.A.18.6.16 the amino acid/auxin permease (aaap) family # UCSC uc002jzz human. [Q9HBR0-1] # eggNOG COG0814 LUCA # eggNOG KOG1305 Eukaryota BLAST swissprot:S38AA_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S38AA_HUMAN COXPRESdb 124565 http://coxpresdb.jp/data/gene/124565.shtml CleanEx HS_SLC38A10 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC38A10 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1038/nature04689 http://dx.doi.org/10.1038/nature04689 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.0404089101 http://dx.doi.org/10.1073/pnas.0404089101 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AC027601 http://www.ebi.ac.uk/ena/data/view/AC027601 EMBL AF217993 http://www.ebi.ac.uk/ena/data/view/AF217993 EMBL AK093037 http://www.ebi.ac.uk/ena/data/view/AK093037 EMBL AK128330 http://www.ebi.ac.uk/ena/data/view/AK128330 EMBL BC014642 http://www.ebi.ac.uk/ena/data/view/BC014642 EMBL CH471099 http://www.ebi.ac.uk/ena/data/view/CH471099 Ensembl ENST00000288439 http://www.ensembl.org/id/ENST00000288439 Ensembl ENST00000374759 http://www.ensembl.org/id/ENST00000374759 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0015171 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015171 GO_process GO:0003333 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003333 GO_process GO:0006814 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006814 GO_process GO:0060348 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060348 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC38A10 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC38A10 GeneID 124565 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=124565 GeneTree ENSGT00760000119147 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119147 HGNC HGNC:28237 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:28237 HOGENOM HOG000154237 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000154237&db=HOGENOM6 HOVERGEN HBG097690 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG097690&db=HOVERGEN HPA HPA021374 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA021374 HPA HPA023161 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA023161 HPA HPA024631 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA024631 InParanoid Q9HBR0 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9HBR0 IntAct Q9HBR0 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9HBR0* InterPro IPR013057 http://www.ebi.ac.uk/interpro/entry/IPR013057 Jabion 124565 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=124565 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:124565 http://www.genome.jp/dbget-bin/www_bget?hsa:124565 KEGG_Orthology KO:K14996 http://www.genome.jp/dbget-bin/www_bget?KO:K14996 MIM 616525 http://www.ncbi.nlm.nih.gov/omim/616525 OMA ILKEANW http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=ILKEANW OrthoDB EOG091G0IDE http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0IDE PSORT swissprot:S38AA_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S38AA_HUMAN PSORT-B swissprot:S38AA_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S38AA_HUMAN PSORT2 swissprot:S38AA_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S38AA_HUMAN Pfam PF01490 http://pfam.xfam.org/family/PF01490 PharmGKB PA162403738 http://www.pharmgkb.org/do/serve?objId=PA162403738&objCls=Gene Phobius swissprot:S38AA_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S38AA_HUMAN PhylomeDB Q9HBR0 http://phylomedb.org/?seqid=Q9HBR0 ProteinModelPortal Q9HBR0 http://www.proteinmodelportal.org/query/uniprot/Q9HBR0 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15498874 http://www.ncbi.nlm.nih.gov/pubmed/15498874 PubMed 16625196 http://www.ncbi.nlm.nih.gov/pubmed/16625196 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 RefSeq NP_001033073 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001033073 RefSeq NP_612637 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_612637 STRING 9606.ENSP00000363891 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000363891&targetmode=cogs TCDB 2.A.18.6.16 http://www.tcdb.org/search/result.php?tc=2.A.18.6.16 UCSC uc002jzz http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002jzz&org=rat UniGene Hs.352240 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.352240 UniProtKB S38AA_HUMAN http://www.uniprot.org/uniprot/S38AA_HUMAN UniProtKB-AC Q9HBR0 http://www.uniprot.org/uniprot/Q9HBR0 charge swissprot:S38AA_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S38AA_HUMAN eggNOG COG0814 http://eggnogapi.embl.de/nog_data/html/tree/COG0814 eggNOG KOG1305 http://eggnogapi.embl.de/nog_data/html/tree/KOG1305 epestfind swissprot:S38AA_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S38AA_HUMAN garnier swissprot:S38AA_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S38AA_HUMAN helixturnhelix swissprot:S38AA_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S38AA_HUMAN hmoment swissprot:S38AA_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S38AA_HUMAN iep swissprot:S38AA_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S38AA_HUMAN inforesidue swissprot:S38AA_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S38AA_HUMAN neXtProt NX_Q9HBR0 http://www.nextprot.org/db/entry/NX_Q9HBR0 octanol swissprot:S38AA_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S38AA_HUMAN pepcoil swissprot:S38AA_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S38AA_HUMAN pepdigest swissprot:S38AA_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S38AA_HUMAN pepinfo swissprot:S38AA_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S38AA_HUMAN pepnet swissprot:S38AA_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S38AA_HUMAN pepstats swissprot:S38AA_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S38AA_HUMAN pepwheel swissprot:S38AA_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S38AA_HUMAN pepwindow swissprot:S38AA_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S38AA_HUMAN sigcleave swissprot:S38AA_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S38AA_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS ABCA7_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=Type 1; IsoId=Q8IZY2-1; Sequence=Displayed; Name=2; Synonyms=Type 2; IsoId=Q8IZY2-2; Sequence=VSP_020701, VSP_020702; Note=Inactive for apoA-I-mediated lipid release.; # AltName ABCA7_HUMAN ABCA-SSN # AltName ABCA7_HUMAN Autoantigen SS-N # AltName ABCA7_HUMAN Macrophage ABC transporter # BioGrid 115629 8 # CCDS CCDS12055 -. [Q8IZY2-1] # ChiTaRS ABCA7 human # DEVELOPMENTAL STAGE ABCA7_HUMAN Expressed in fetal tissues. Strongly expressed in fetal liver. {ECO 0000269|PubMed 10873640, ECO 0000269|PubMed 11435699}. # DISEASE ABCA7_HUMAN Alzheimer disease 9 (AD9) [MIM 608907] A familial, late- onset form of Alzheimer disease, a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituent of these plaques is the neurotoxic amyloid-beta-APP 40-42 peptide (s), derived proteolytically from the transmembrane precursor protein APP by sequential secretase processing. The cytotoxic C- terminal fragments (CTFs) and the caspase-cleaved products such as C31 derived from APP, are also implicated in neuronal death. {ECO 0000269|PubMed 25807283, ECO 0000269|PubMed 26141617}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. # Ensembl ENST00000263094 ENSP00000263094; ENSG00000064687. [Q8IZY2-1] # Ensembl ENST00000433129 ENSP00000414062; ENSG00000064687. [Q8IZY2-1] # Ensembl ENST00000435683 ENSP00000465322; ENSG00000064687. [Q8IZY2-2] # ExpressionAtlas Q8IZY2 baseline and differential # FUNCTION ABCA7_HUMAN Plays a role in phagocytosis by macrophages of apoptotic cells. Binds APOA1 and may function in apolipoprotein-mediated phospholipid efflux from cells. May also mediate cholesterol efflux. May regulate cellular ceramide homeostasis during keratinocytes differentiation. {ECO 0000269|PubMed 12917409, ECO 0000269|PubMed 12925201, ECO 0000269|PubMed 14570867, ECO 0000269|PubMed 14592415}. # GO_component GO:0000139 Golgi membrane; IEA:UniProtKB-SubCell. # GO_component GO:0001891 phagocytic cup; ISS:Alzheimers_University_of_Toronto. # GO_component GO:0005794 Golgi apparatus; IDA:HPA. # GO_component GO:0005886 plasma membrane; IDA:Alzheimers_University_of_Toronto. # GO_component GO:0009986 cell surface; ISS:Alzheimers_University_of_Toronto. # GO_component GO:0016021 integral component of membrane; TAS:ProtInc. # GO_component GO:0016324 apical plasma membrane; IEA:Ensembl. # GO_component GO:0030054 cell junction; IDA:HPA. # GO_component GO:0031901 early endosome membrane; IEA:UniProtKB-SubCell. # GO_component GO:0032587 ruffle membrane; ISS:Alzheimers_University_of_Toronto. # GO_component GO:0043190 ATP-binding cassette (ABC) transporter complex; TAS:ProtInc. # GO_component GO:0043231 intracellular membrane-bounded organelle; IBA:GO_Central. # GO_function GO:0005215 transporter activity; TAS:ProtInc. # GO_function GO:0005524 ATP binding; TAS:ProtInc. # GO_function GO:0016887 ATPase activity; IDA:BHF-UCL. # GO_function GO:0034188 apolipoprotein A-I receptor activity; IDA:Alzheimers_University_of_Toronto. # GO_function GO:0042626 ATPase activity, coupled to transmembrane movement of substances; IBA:GO_Central. # GO_function GO:0090554 phosphatidylcholine-translocating ATPase activity; IDA:BHF-UCL. # GO_function GO:0090556 phosphatidylserine-translocating ATPase activity; IDA:BHF-UCL. # GO_process GO:0006909 phagocytosis; IEA:UniProtKB-KW. # GO_process GO:0007613 memory; ISS:Alzheimers_University_of_Toronto. # GO_process GO:0010875 positive regulation of cholesterol efflux; ISS:Alzheimers_University_of_Toronto. # GO_process GO:0018149 peptide cross-linking; ISS:Alzheimers_University_of_Toronto. # GO_process GO:0033344 cholesterol efflux; IDA:Alzheimers_University_of_Toronto. # GO_process GO:0033700 phospholipid efflux; IDA:Alzheimers_University_of_Toronto. # GO_process GO:0034380 high-density lipoprotein particle assembly; IDA:Alzheimers_University_of_Toronto. # GO_process GO:0034504 protein localization to nucleus; ISS:Alzheimers_University_of_Toronto. # GO_process GO:0038027 apolipoprotein A-I-mediated signaling pathway; IDA:Alzheimers_University_of_Toronto. # GO_process GO:0042985 negative regulation of amyloid precursor protein biosynthetic process; ISS:Alzheimers_University_of_Toronto. # GO_process GO:0045332 phospholipid translocation; IDA:BHF-UCL. # GO_process GO:0050766 positive regulation of phagocytosis; ISS:Alzheimers_University_of_Toronto. # GO_process GO:0055085 transmembrane transport; TAS:Reactome. # GO_process GO:0070374 positive regulation of ERK1 and ERK2 cascade; ISS:Alzheimers_University_of_Toronto. # GO_process GO:1900223 positive regulation of beta-amyloid clearance; ISS:Alzheimers_University_of_Toronto. # GO_process GO:1901076 positive regulation of engulfment of apoptotic cell; ISS:Alzheimers_University_of_Toronto. # GO_process GO:1902430 negative regulation of beta-amyloid formation; ISS:Alzheimers_University_of_Toronto. # GO_process GO:1902995 positive regulation of phospholipid efflux; ISS:Alzheimers_University_of_Toronto. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005794 Golgi apparatus # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006464 cellular protein modification process # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0016192 vesicle-mediated transport # GOslim_process GO:0050877 neurological system process # GOslim_process GO:0055085 transmembrane transport # GOslim_process GO:0061024 membrane organization # GOslim_process GO:0065003 macromolecular complex assembly # Gene3D 3.40.50.300 -; 2. # Genevisible Q8IZY2 HS # HGNC HGNC:37 ABCA7 # INDUCTION ABCA7_HUMAN Up-regulated in macrophages upon cholesterol uptake and inversely regulated upon cholesterol deloading from the cells (at protein level). Up-regulated in keratinocytes during terminal differentiation. {ECO 0000269|PubMed 10873640, ECO 0000269|PubMed 12925201}. # IntAct Q8IZY2 7 # InterPro IPR003439 ABC_transporter-like # InterPro IPR003593 AAA+_ATPase # InterPro IPR017871 ABC_transporter_CS # InterPro IPR026082 ABC_A # InterPro IPR027417 P-loop_NTPase # InterPro IPR030369 ABCA7 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02000 Transporters # KEGG_Pathway ko02010 ABC transporters # MIM 605414 gene # MIM 608907 phenotype # Organism ABCA7_HUMAN Homo sapiens (Human) # PANTHER PTHR19229 PTHR19229; 6 # PANTHER PTHR19229:SF49 PTHR19229:SF49; 6 # PROSITE PS00211 ABC_TRANSPORTER_1 # PROSITE PS50893 ABC_TRANSPORTER_2; 2 # Pfam PF00005 ABC_tran; 2 # Proteomes UP000005640 Chromosome 19 # Reactome R-HSA-1369062 ABC transporters in lipid homeostasis # RecName ABCA7_HUMAN ATP-binding cassette sub-family A member 7 # RefSeq NP_061985 NM_019112.3. [Q8IZY2-1] # RefSeq XP_011525930 XM_011527628.2. [Q8IZY2-1] # SIMILARITY Belongs to the ABC transporter superfamily. ABCA family. {ECO 0000305}. # SIMILARITY Contains 2 ABC transporter domains. {ECO:0000255|PROSITE-ProRule PRU00434}. # SMART SM00382 AAA; 2 # SUBCELLULAR LOCATION ABCA7_HUMAN Cell membrane {ECO 0000269|PubMed 12917409, ECO 0000269|PubMed 14592415}; Multi-pass membrane protein {ECO 0000255}. Golgi apparatus membrane {ECO 0000250|UniProtKB Q91V24}; Multi-pass membrane protein {ECO 0000255}. Early endosome membrane {ECO 0000250|UniProtKB Q91V24}; Multi-pass membrane protein {ECO 0000255}. Note=Localizes to cell membrane ruffles and phagocytic cups of macrophages stimulated with C1q or apoptotic cells. Localizes to the cytoplasm of resting macrophages, probably in Golgi and endosomes. Localizes to the apical brush border of cells in the proximal tubules of kidney (By similarity). Isoform 2 may localize to the endoplasmic reticulum (PubMed 14592415). {ECO 0000250|UniProtKB Q91V24, ECO 0000269|PubMed 14592415}. # SUPFAM SSF52540 SSF52540; 2 # TCDB 3.A.1.211.10 the atp-binding cassette (abc) superfamily # TISSUE SPECIFICITY ABCA7_HUMAN Expressed in leukocytes (at protein level). Widely expressed. Highly expressed in myelo-lymphatic tissues including peripheral leukocytes, thymus, spleen and bone marrow. Isoform 2 is more abundant in lymph node, spleen, thymus and trachea than isoform 1 which is more strongly expressed in brain and bone marrow. {ECO 0000269|PubMed 10873640, ECO 0000269|PubMed 11435699, ECO 0000269|PubMed 14592415}. # UCSC uc002lqw human. [Q8IZY2-1] # WEB RESOURCE ABCA7_HUMAN Name=ABCMdb; Note=Database for mutations in ABC proteins; URL="http //abcmutations.hegelab.org/proteinDetails?uniprot_id=Q8IZY2"; # eggNOG COG1131 LUCA # eggNOG KOG0059 Eukaryota BLAST swissprot:ABCA7_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ABCA7_HUMAN COXPRESdb 10347 http://coxpresdb.jp/data/gene/10347.shtml CleanEx HS_ABCA7 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ABCA7 DOI 10.1006/bbrc.2000.2954 http://dx.doi.org/10.1006/bbrc.2000.2954 DOI 10.1006/bbrc.2000.3880 http://dx.doi.org/10.1006/bbrc.2000.3880 DOI 10.1006/bbrc.2001.4891 http://dx.doi.org/10.1006/bbrc.2001.4891 DOI 10.1007/s100380200041 http://dx.doi.org/10.1007/s100380200041 DOI 10.1016/S1474-4422(15)00133-7 http://dx.doi.org/10.1016/S1474-4422(15)00133-7 DOI 10.1016/j.bbrc.2003.10.002 http://dx.doi.org/10.1016/j.bbrc.2003.10.002 DOI 10.1038/nature02399 http://dx.doi.org/10.1038/nature02399 DOI 10.1038/ng.3246 http://dx.doi.org/10.1038/ng.3246 DOI 10.1046/j.1523-1747.2003.12404.x http://dx.doi.org/10.1046/j.1523-1747.2003.12404.x DOI 10.1074/jbc.M307831200 http://dx.doi.org/10.1074/jbc.M307831200 DOI 10.1074/jbc.M309888200 http://dx.doi.org/10.1074/jbc.M309888200 EMBL AB055390 http://www.ebi.ac.uk/ena/data/view/AB055390 EMBL AC011558 http://www.ebi.ac.uk/ena/data/view/AC011558 EMBL AF140342 http://www.ebi.ac.uk/ena/data/view/AF140342 EMBL AF250238 http://www.ebi.ac.uk/ena/data/view/AF250238 EMBL AF311057 http://www.ebi.ac.uk/ena/data/view/AF311057 EMBL AF311058 http://www.ebi.ac.uk/ena/data/view/AF311058 EMBL AF311059 http://www.ebi.ac.uk/ena/data/view/AF311059 EMBL AF311060 http://www.ebi.ac.uk/ena/data/view/AF311060 EMBL AF311061 http://www.ebi.ac.uk/ena/data/view/AF311061 EMBL AF311062 http://www.ebi.ac.uk/ena/data/view/AF311062 EMBL AF311063 http://www.ebi.ac.uk/ena/data/view/AF311063 EMBL AF311064 http://www.ebi.ac.uk/ena/data/view/AF311064 EMBL AF311065 http://www.ebi.ac.uk/ena/data/view/AF311065 EMBL AF311066 http://www.ebi.ac.uk/ena/data/view/AF311066 EMBL AF311067 http://www.ebi.ac.uk/ena/data/view/AF311067 EMBL AF311068 http://www.ebi.ac.uk/ena/data/view/AF311068 EMBL AF311069 http://www.ebi.ac.uk/ena/data/view/AF311069 EMBL AF311070 http://www.ebi.ac.uk/ena/data/view/AF311070 EMBL AF311071 http://www.ebi.ac.uk/ena/data/view/AF311071 EMBL AF311072 http://www.ebi.ac.uk/ena/data/view/AF311072 EMBL AF311073 http://www.ebi.ac.uk/ena/data/view/AF311073 EMBL AF311074 http://www.ebi.ac.uk/ena/data/view/AF311074 EMBL AF311075 http://www.ebi.ac.uk/ena/data/view/AF311075 EMBL AF311076 http://www.ebi.ac.uk/ena/data/view/AF311076 EMBL AF311077 http://www.ebi.ac.uk/ena/data/view/AF311077 EMBL AF311078 http://www.ebi.ac.uk/ena/data/view/AF311078 EMBL AF311079 http://www.ebi.ac.uk/ena/data/view/AF311079 EMBL AF311080 http://www.ebi.ac.uk/ena/data/view/AF311080 EMBL AF311081 http://www.ebi.ac.uk/ena/data/view/AF311081 EMBL AF311082 http://www.ebi.ac.uk/ena/data/view/AF311082 EMBL AF311083 http://www.ebi.ac.uk/ena/data/view/AF311083 EMBL AF311084 http://www.ebi.ac.uk/ena/data/view/AF311084 EMBL AF311085 http://www.ebi.ac.uk/ena/data/view/AF311085 EMBL AF311086 http://www.ebi.ac.uk/ena/data/view/AF311086 EMBL AF311087 http://www.ebi.ac.uk/ena/data/view/AF311087 EMBL AF311088 http://www.ebi.ac.uk/ena/data/view/AF311088 EMBL AF311089 http://www.ebi.ac.uk/ena/data/view/AF311089 EMBL AF311090 http://www.ebi.ac.uk/ena/data/view/AF311090 EMBL AF311091 http://www.ebi.ac.uk/ena/data/view/AF311091 EMBL AF311092 http://www.ebi.ac.uk/ena/data/view/AF311092 EMBL AF311093 http://www.ebi.ac.uk/ena/data/view/AF311093 EMBL AF311094 http://www.ebi.ac.uk/ena/data/view/AF311094 EMBL AF311095 http://www.ebi.ac.uk/ena/data/view/AF311095 EMBL AF311096 http://www.ebi.ac.uk/ena/data/view/AF311096 EMBL AF311097 http://www.ebi.ac.uk/ena/data/view/AF311097 EMBL AF311098 http://www.ebi.ac.uk/ena/data/view/AF311098 EMBL AF311099 http://www.ebi.ac.uk/ena/data/view/AF311099 EMBL AF311100 http://www.ebi.ac.uk/ena/data/view/AF311100 EMBL AF311101 http://www.ebi.ac.uk/ena/data/view/AF311101 EMBL AF311102 http://www.ebi.ac.uk/ena/data/view/AF311102 EMBL AF328787 http://www.ebi.ac.uk/ena/data/view/AF328787 Ensembl ENST00000263094 http://www.ensembl.org/id/ENST00000263094 Ensembl ENST00000433129 http://www.ensembl.org/id/ENST00000433129 Ensembl ENST00000435683 http://www.ensembl.org/id/ENST00000435683 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000139 GO_component GO:0001891 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001891 GO_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0009986 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009986 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0031901 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031901 GO_component GO:0032587 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032587 GO_component GO:0043190 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043190 GO_component GO:0043231 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043231 GO_function GO:0005215 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005215 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GO_function GO:0034188 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034188 GO_function GO:0042626 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042626 GO_function GO:0090554 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090554 GO_function GO:0090556 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090556 GO_process GO:0006909 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006909 GO_process GO:0007613 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007613 GO_process GO:0010875 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010875 GO_process GO:0018149 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0018149 GO_process GO:0033344 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033344 GO_process GO:0033700 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033700 GO_process GO:0034380 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034380 GO_process GO:0034504 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034504 GO_process GO:0038027 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0038027 GO_process GO:0042985 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042985 GO_process GO:0045332 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045332 GO_process GO:0050766 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050766 GO_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GO_process GO:0070374 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070374 GO_process GO:1900223 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1900223 GO_process GO:1901076 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1901076 GO_process GO:1902430 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902430 GO_process GO:1902995 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902995 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006464 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006464 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0016192 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016192 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GOslim_process GO:0061024 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061024 GOslim_process GO:0065003 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0065003 Gene3D 3.40.50.300 http://www.cathdb.info/version/latest/superfamily/3.40.50.300 GeneCards ABCA7 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ABCA7 GeneID 10347 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=10347 GeneTree ENSGT00760000118965 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118965 H-InvDB HIX0014569 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0014569 HGNC HGNC:37 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:37 HOGENOM HOG000231547 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231547&db=HOGENOM6 HOVERGEN HBG050436 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050436&db=HOVERGEN HPA HPA041564 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA041564 InParanoid Q8IZY2 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8IZY2 IntAct Q8IZY2 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q8IZY2* InterPro IPR003439 http://www.ebi.ac.uk/interpro/entry/IPR003439 InterPro IPR003593 http://www.ebi.ac.uk/interpro/entry/IPR003593 InterPro IPR017871 http://www.ebi.ac.uk/interpro/entry/IPR017871 InterPro IPR026082 http://www.ebi.ac.uk/interpro/entry/IPR026082 InterPro IPR027417 http://www.ebi.ac.uk/interpro/entry/IPR027417 InterPro IPR030369 http://www.ebi.ac.uk/interpro/entry/IPR030369 Jabion 10347 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=10347 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Gene hsa:10347 http://www.genome.jp/dbget-bin/www_bget?hsa:10347 KEGG_Orthology KO:K05645 http://www.genome.jp/dbget-bin/www_bget?KO:K05645 KEGG_Pathway ko02010 http://www.genome.jp/kegg-bin/show_pathway?ko02010 MIM 605414 http://www.ncbi.nlm.nih.gov/omim/605414 MIM 608907 http://www.ncbi.nlm.nih.gov/omim/608907 OMA AEHGVED http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=AEHGVED OrthoDB EOG091G007E http://cegg.unige.ch/orthodb/results?searchtext=EOG091G007E PANTHER PTHR19229 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR19229 PANTHER PTHR19229:SF49 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR19229:SF49 PROSITE PS00211 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00211 PROSITE PS50893 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50893 PSORT swissprot:ABCA7_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ABCA7_HUMAN PSORT-B swissprot:ABCA7_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ABCA7_HUMAN PSORT2 swissprot:ABCA7_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ABCA7_HUMAN Pfam PF00005 http://pfam.xfam.org/family/PF00005 PharmGKB PA24382 http://www.pharmgkb.org/do/serve?objId=PA24382&objCls=Gene Phobius swissprot:ABCA7_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ABCA7_HUMAN PhylomeDB Q8IZY2 http://phylomedb.org/?seqid=Q8IZY2 ProteinModelPortal Q8IZY2 http://www.proteinmodelportal.org/query/uniprot/Q8IZY2 PubMed 10873640 http://www.ncbi.nlm.nih.gov/pubmed/10873640 PubMed 11095984 http://www.ncbi.nlm.nih.gov/pubmed/11095984 PubMed 11355874 http://www.ncbi.nlm.nih.gov/pubmed/11355874 PubMed 11435699 http://www.ncbi.nlm.nih.gov/pubmed/11435699 PubMed 12111378 http://www.ncbi.nlm.nih.gov/pubmed/12111378 PubMed 12917409 http://www.ncbi.nlm.nih.gov/pubmed/12917409 PubMed 12925201 http://www.ncbi.nlm.nih.gov/pubmed/12925201 PubMed 14570867 http://www.ncbi.nlm.nih.gov/pubmed/14570867 PubMed 14592415 http://www.ncbi.nlm.nih.gov/pubmed/14592415 PubMed 15057824 http://www.ncbi.nlm.nih.gov/pubmed/15057824 PubMed 25807283 http://www.ncbi.nlm.nih.gov/pubmed/25807283 PubMed 26141617 http://www.ncbi.nlm.nih.gov/pubmed/26141617 Reactome R-HSA-1369062 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1369062 RefSeq NP_061985 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_061985 RefSeq XP_011525930 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011525930 SMART SM00382 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00382 SMR Q8IZY2 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q8IZY2 STRING 9606.ENSP00000263094 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000263094&targetmode=cogs SUPFAM SSF52540 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52540 TCDB 3.A.1.211.10 http://www.tcdb.org/search/result.php?tc=3.A.1.211.10 UCSC uc002lqw http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002lqw&org=rat UniGene Hs.134514 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.134514 UniProtKB ABCA7_HUMAN http://www.uniprot.org/uniprot/ABCA7_HUMAN UniProtKB-AC Q8IZY2 http://www.uniprot.org/uniprot/Q8IZY2 charge swissprot:ABCA7_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ABCA7_HUMAN eggNOG COG1131 http://eggnogapi.embl.de/nog_data/html/tree/COG1131 eggNOG KOG0059 http://eggnogapi.embl.de/nog_data/html/tree/KOG0059 epestfind swissprot:ABCA7_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ABCA7_HUMAN garnier swissprot:ABCA7_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ABCA7_HUMAN helixturnhelix swissprot:ABCA7_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ABCA7_HUMAN hmoment swissprot:ABCA7_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ABCA7_HUMAN iep swissprot:ABCA7_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ABCA7_HUMAN inforesidue swissprot:ABCA7_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ABCA7_HUMAN neXtProt NX_Q8IZY2 http://www.nextprot.org/db/entry/NX_Q8IZY2 octanol swissprot:ABCA7_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ABCA7_HUMAN pepcoil swissprot:ABCA7_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ABCA7_HUMAN pepdigest swissprot:ABCA7_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ABCA7_HUMAN pepinfo swissprot:ABCA7_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ABCA7_HUMAN pepnet swissprot:ABCA7_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ABCA7_HUMAN pepstats swissprot:ABCA7_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ABCA7_HUMAN pepwheel swissprot:ABCA7_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ABCA7_HUMAN pepwindow swissprot:ABCA7_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ABCA7_HUMAN sigcleave swissprot:ABCA7_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ABCA7_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS TRPV5_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NQA5-1; Sequence=Displayed; Name=2; IsoId=Q9NQA5-2; Sequence=VSP_057199, VSP_057200; Note=No experimental confirmation available.; # AltName TRPV5_HUMAN Calcium transport protein 2 # AltName TRPV5_HUMAN Epithelial calcium channel 1 # AltName TRPV5_HUMAN Osm-9-like TRP channel 3 # BioGrid 121137 20 # CCDS CCDS5875 -. [Q9NQA5-1] # ENZYME REGULATION Activated by WNK3. {ECO:0000269|PubMed 18768590}. # Ensembl ENST00000442623 ENSP00000406572; ENSG00000127412 # ExpressionAtlas Q9NQA5 baseline and differential # FUNCTION TRPV5_HUMAN Constitutively active calcium selective cation channel thought to be involved in Ca(2+) reabsorption in kidney and intestine (PubMed 11549322, PubMed 18768590). Required for normal Ca(2+) reabsorption in the kidney distal convoluted tubules (By similarity). The channel is activated by low internal calcium level and the current exhibits an inward rectification (PubMed 11549322, PubMed 18768590). A Ca(2+)-dependent feedback regulation includes fast channel inactivation and slow current decay (By similarity). Heteromeric assembly with TRPV6 seems to modify channel properties. TRPV5-TRPV6 heteromultimeric concatemers exhibit voltage-dependent gating (By similarity). {ECO 0000250|UniProtKB P69744, ECO 0000250|UniProtKB Q9XSM3, ECO 0000269|PubMed 11549322, ECO 0000269|PubMed 18768590}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IDA:UniProtKB. # GO_component GO:0016324 apical plasma membrane; IEA:UniProtKB-SubCell. # GO_function GO:0005262 calcium channel activity; IDA:UniProtKB. # GO_function GO:0046872 metal ion binding; IEA:UniProtKB-KW. # GO_process GO:0006816 calcium ion transport; ISS:UniProtKB. # GO_process GO:0035809 regulation of urine volume; ISS:UniProtKB. # GO_process GO:0051262 protein tetramerization; ISS:UniProtKB. # GO_process GO:0055074 calcium ion homeostasis; ISS:UniProtKB. # GO_process GO:0070588 calcium ion transmembrane transport; IDA:UniProtKB. # GO_process GO:1990035 calcium ion import into cell; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.25.40.20 -; 2. # Genevisible Q9NQA5 HS # HGNC HGNC:3145 TRPV5 # INTERACTION TRPV5_HUMAN P05937 CALB1; NbExp=4; IntAct=EBI-751281, EBI-4286943; # IntAct Q9NQA5 2 # InterPro IPR002110 Ankyrin_rpt # InterPro IPR004729 TRP_channel # InterPro IPR005821 Ion_trans_dom # InterPro IPR008344 TRPV5/TRPV6 # InterPro IPR008346 TRPV5 # InterPro IPR020683 Ankyrin_rpt-contain_dom # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04961 Endocrine and other factor-regulated calcium reabsorption # MIM 606679 gene # Organism TRPV5_HUMAN Homo sapiens (Human) # PANTHER PTHR10582:SF11 PTHR10582:SF11 # PRINTS PR01415 ANKYRIN # PRINTS PR01765 ECACCHANNEL # PRINTS PR01767 ECACCHANNEL2 # PROSITE PS50088 ANK_REPEAT; 2 # PROSITE PS50297 ANK_REP_REGION # PTM TRPV5_HUMAN Glycosylated. {ECO 0000269|PubMed 18768590}. # Pfam PF00023 Ank # Pfam PF00520 Ion_trans # Pfam PF12796 Ank_2 # Proteomes UP000005640 Chromosome 7 # Reactome R-HSA-3295583 TRP channels # RecName TRPV5_HUMAN Transient receptor potential cation channel subfamily V member 5 # RefSeq NP_062815 NM_019841.6 # SIMILARITY Belongs to the transient receptor (TC 1.A.4) family. TrpV subfamily. TRPV5 sub-subfamily. {ECO 0000305}. # SIMILARITY Contains 6 ANK repeats. {ECO:0000255|PROSITE- ProRule PRU00023}. # SMART SM00248 ANK; 5 # SUBCELLULAR LOCATION TRPV5_HUMAN Apical cell membrane {ECO 0000269|PubMed 18768590}; Multi-pass membrane protein {ECO 0000269|PubMed 18768590}. Note=Colocalized with S100A10 and ANAX2 along the apical domain of kidney distal tubular cells (By similarity). The expression of the glycosylated form in the cell membrane is increased in the presence of WNK3 (PubMed 18768590). {ECO 0000250|UniProtKB P69744, ECO 0000269|PubMed 18768590}. # SUBUNIT TRPV5_HUMAN Homotetramer and probably heterotetramer with TRPV6. Interacts with TRPV6 (By similarity). Interacts with S100A10 and probably with the ANAX2-S100A10 heterotetramer. The interaction with S100A10 is required for the trafficking to the plasma membrane. Interacts with calmodulin. Interacts with BSPRY, which results in its inactivation. {ECO 0000250|UniProtKB P69744, ECO 0000250|UniProtKB Q9XSM3}. # SUPFAM SSF48403 SSF48403 # TCDB 1.A.4.2.10 the transient receptor potential ca(2+) channel (trp-cc) family # TIGRFAMs TIGR00870 trp # TISSUE SPECIFICITY TRPV5_HUMAN Expressed at high levels in kidney, small intestine and pancreas, and at lower levels in testis, prostate, placenta, brain, colon and rectum. {ECO 0000269|PubMed 10945469, ECO 0000269|PubMed 11549322}. # UCSC uc003wbz human. [Q9NQA5-1] # WEB RESOURCE TRPV5_HUMAN Name=SeattleSNPs; URL="http //pga.gs.washington.edu/data/trpv5/"; # eggNOG ENOG4110DG4 LUCA # eggNOG KOG3676 Eukaryota BLAST swissprot:TRPV5_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:TRPV5_HUMAN BioCyc ZFISH:ENSG00000127412-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000127412-MONOMER COXPRESdb 56302 http://coxpresdb.jp/data/gene/56302.shtml CleanEx HS_TRPV5 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_TRPV5 DOI 10.1006/geno.2000.6203 http://dx.doi.org/10.1006/geno.2000.6203 DOI 10.1006/geno.2001.6606 http://dx.doi.org/10.1006/geno.2001.6606 DOI 10.1038/nature01782 http://dx.doi.org/10.1038/nature01782 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1083423 http://dx.doi.org/10.1126/science.1083423 DOI 10.1152/ajprenal.90229.2008 http://dx.doi.org/10.1152/ajprenal.90229.2008 EMBL AC245427 http://www.ebi.ac.uk/ena/data/view/AC245427 EMBL AF304464 http://www.ebi.ac.uk/ena/data/view/AF304464 EMBL AJ271207 http://www.ebi.ac.uk/ena/data/view/AJ271207 EMBL AJ487965 http://www.ebi.ac.uk/ena/data/view/AJ487965 EMBL AY206695 http://www.ebi.ac.uk/ena/data/view/AY206695 EMBL BC034740 http://www.ebi.ac.uk/ena/data/view/BC034740 EMBL CH236959 http://www.ebi.ac.uk/ena/data/view/CH236959 EMBL CH471198 http://www.ebi.ac.uk/ena/data/view/CH471198 Ensembl ENST00000442623 http://www.ensembl.org/id/ENST00000442623 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_function GO:0005262 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005262 GO_function GO:0046872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046872 GO_process GO:0006816 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006816 GO_process GO:0035809 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035809 GO_process GO:0051262 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051262 GO_process GO:0055074 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055074 GO_process GO:0070588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070588 GO_process GO:1990035 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1990035 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.25.40.20 http://www.cathdb.info/version/latest/superfamily/1.25.40.20 GeneCards TRPV5 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=TRPV5 GeneID 56302 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=56302 HGNC HGNC:3145 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:3145 HOGENOM HOG000207344 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000207344&db=HOGENOM6 HOVERGEN HBG061442 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG061442&db=HOVERGEN HPA HPA063175 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA063175 InParanoid Q9NQA5 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9NQA5 IntAct Q9NQA5 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9NQA5* InterPro IPR002110 http://www.ebi.ac.uk/interpro/entry/IPR002110 InterPro IPR004729 http://www.ebi.ac.uk/interpro/entry/IPR004729 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR008344 http://www.ebi.ac.uk/interpro/entry/IPR008344 InterPro IPR008346 http://www.ebi.ac.uk/interpro/entry/IPR008346 InterPro IPR020683 http://www.ebi.ac.uk/interpro/entry/IPR020683 Jabion 56302 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=56302 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:56302 http://www.genome.jp/dbget-bin/www_bget?hsa:56302 KEGG_Orthology KO:K04974 http://www.genome.jp/dbget-bin/www_bget?KO:K04974 KEGG_Pathway ko04961 http://www.genome.jp/kegg-bin/show_pathway?ko04961 MIM 606679 http://www.ncbi.nlm.nih.gov/omim/606679 MINT MINT-1470011 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1470011 PANTHER PTHR10582:SF11 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10582:SF11 PRINTS PR01415 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01415 PRINTS PR01765 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01765 PRINTS PR01767 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01767 PROSITE PS50088 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50088 PROSITE PS50297 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50297 PSORT swissprot:TRPV5_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:TRPV5_HUMAN PSORT-B swissprot:TRPV5_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:TRPV5_HUMAN PSORT2 swissprot:TRPV5_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:TRPV5_HUMAN Pfam PF00023 http://pfam.xfam.org/family/PF00023 Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF12796 http://pfam.xfam.org/family/PF12796 PharmGKB PA35045 http://www.pharmgkb.org/do/serve?objId=PA35045&objCls=Gene Phobius swissprot:TRPV5_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:TRPV5_HUMAN PhylomeDB Q9NQA5 http://phylomedb.org/?seqid=Q9NQA5 ProteinModelPortal Q9NQA5 http://www.proteinmodelportal.org/query/uniprot/Q9NQA5 PubMed 10945469 http://www.ncbi.nlm.nih.gov/pubmed/10945469 PubMed 11549322 http://www.ncbi.nlm.nih.gov/pubmed/11549322 PubMed 12690205 http://www.ncbi.nlm.nih.gov/pubmed/12690205 PubMed 12853948 http://www.ncbi.nlm.nih.gov/pubmed/12853948 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 18768590 http://www.ncbi.nlm.nih.gov/pubmed/18768590 Reactome R-HSA-3295583 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-3295583 RefSeq NP_062815 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_062815 SMART SM00248 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00248 SMR Q9NQA5 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9NQA5 STRING 9606.ENSP00000265310 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000265310&targetmode=cogs SUPFAM SSF48403 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48403 TCDB 1.A.4.2.10 http://www.tcdb.org/search/result.php?tc=1.A.4.2.10 TIGRFAMs TIGR00870 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00870 UCSC uc003wbz http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003wbz&org=rat UniGene Hs.283369 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.283369 UniProtKB TRPV5_HUMAN http://www.uniprot.org/uniprot/TRPV5_HUMAN UniProtKB-AC Q9NQA5 http://www.uniprot.org/uniprot/Q9NQA5 charge swissprot:TRPV5_HUMAN http://rest.g-language.org/emboss/charge/swissprot:TRPV5_HUMAN eggNOG ENOG4110DG4 http://eggnogapi.embl.de/nog_data/html/tree/ENOG4110DG4 eggNOG KOG3676 http://eggnogapi.embl.de/nog_data/html/tree/KOG3676 epestfind swissprot:TRPV5_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:TRPV5_HUMAN garnier swissprot:TRPV5_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:TRPV5_HUMAN helixturnhelix swissprot:TRPV5_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:TRPV5_HUMAN hmoment swissprot:TRPV5_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:TRPV5_HUMAN iep swissprot:TRPV5_HUMAN http://rest.g-language.org/emboss/iep/swissprot:TRPV5_HUMAN inforesidue swissprot:TRPV5_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:TRPV5_HUMAN neXtProt NX_Q9NQA5 http://www.nextprot.org/db/entry/NX_Q9NQA5 octanol swissprot:TRPV5_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:TRPV5_HUMAN pepcoil swissprot:TRPV5_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:TRPV5_HUMAN pepdigest swissprot:TRPV5_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:TRPV5_HUMAN pepinfo swissprot:TRPV5_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:TRPV5_HUMAN pepnet swissprot:TRPV5_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:TRPV5_HUMAN pepstats swissprot:TRPV5_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:TRPV5_HUMAN pepwheel swissprot:TRPV5_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:TRPV5_HUMAN pepwindow swissprot:TRPV5_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:TRPV5_HUMAN sigcleave swissprot:TRPV5_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:TRPV5_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS ZNT10_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q6XR72-4; Sequence=Displayed; Name=2; IsoId=Q6XR72-2; Sequence=VSP_029863; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=3; IsoId=Q6XR72-3; Sequence=VSP_029864, VSP_029865; Note=No experimental confirmation available.; # AltName ZNT10_HUMAN Solute carrier family 30 member 10 # CCDS CCDS31026 -. [Q6XR72-4] # DISEASE ZNT10_HUMAN Hypermanganesemia with dystonia 1 (HMNDYT1) [MIM 613280] A metabolic autosomal recessive disorder characterized by dystonia, parkinsonism, extrapyramidal signs, severe hypermanganesemia, polycythemia, and chronic hepatic disease, including steatosis and cirrhosis. {ECO 0000269|PubMed 22341971, ECO 0000269|PubMed 22341972}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000356609 ENSP00000349018; ENSG00000196660. [Q6XR72-3] # Ensembl ENST00000366926 ENSP00000355893; ENSG00000196660. [Q6XR72-4] # FUNCTION ZNT10_HUMAN Plays a pivotal role in manganese transport. Manganese is an essential cation for the function of several enzymes, including some crucially important for the metabolism of neurotransmitters and other neuronal metabolic pathways. {ECO 0000269|PubMed 22341971, ECO 0000269|PubMed 22341972}. # GO_component GO:0005886 plasma membrane; IBA:GO_Central. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0005385 zinc ion transmembrane transporter activity; IBA:GO_Central. # GO_process GO:0006828 manganese ion transport; IMP:UniProtKB. # GO_process GO:0010043 response to zinc ion; IBA:GO_Central. # GO_process GO:0061088 regulation of sequestering of zinc ion; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # Gene3D 1.20.1510.10 -; 2. # Genevisible Q6XR72 HS # HGNC HGNC:25355 SLC30A10 # INDUCTION Down-regulated by ZNF658 in response to zinc. {ECO:0000269|PubMed 25582195}. # InterPro IPR002524 Cation_efflux # InterPro IPR027469 Cation_efflux_TMD # KEGG_Brite ko02001 Solute carrier family # MIM 611146 gene # MIM 613280 phenotype # Organism ZNT10_HUMAN Homo sapiens (Human) # Orphanet 309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome # PANTHER PTHR11562 PTHR11562; 2 # PIR T50628 T50628 # Pfam PF01545 Cation_efflux # Proteomes UP000005640 Chromosome 1 # RecName ZNT10_HUMAN Zinc transporter 10 # RefSeq NP_061183 NM_018713.2. [Q6XR72-4] # SEQUENCE CAUTION Sequence=AAP44332.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in position 427.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the cation diffusion facilitator (CDF) transporter (TC 2.A.4) family. SLC30A subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION ZNT10_HUMAN Cell membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # TCDB 2.A.4.2 the cation diffusion facilitator (cdf) family # TIGRFAMs TIGR01297 CDF # TISSUE SPECIFICITY Specifically expressed in fetal liver and fetal brain. {ECO:0000269|PubMed 15154973}. # UCSC uc001hlw human. [Q6XR72-4] # eggNOG COG1230 LUCA # eggNOG KOG1483 Eukaryota BLAST swissprot:ZNT10_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ZNT10_HUMAN COXPRESdb 55532 http://coxpresdb.jp/data/gene/55532.shtml CleanEx HS_SLC30A10 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC30A10 DOI 10.1016/j.ajhg.2012.01.017 http://dx.doi.org/10.1016/j.ajhg.2012.01.017 DOI 10.1016/j.ajhg.2012.01.018 http://dx.doi.org/10.1016/j.ajhg.2012.01.018 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1128/MCB.01298-14 http://dx.doi.org/10.1128/MCB.01298-14 DOI 10.1186/1471-2164-5-32 http://dx.doi.org/10.1186/1471-2164-5-32 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 EMBL AC093562 http://www.ebi.ac.uk/ena/data/view/AC093562 EMBL AL359609 http://www.ebi.ac.uk/ena/data/view/AL359609 EMBL AY212919 http://www.ebi.ac.uk/ena/data/view/AY212919 EMBL BC036078 http://www.ebi.ac.uk/ena/data/view/BC036078 Ensembl ENST00000356609 http://www.ensembl.org/id/ENST00000356609 Ensembl ENST00000366926 http://www.ensembl.org/id/ENST00000366926 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005385 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005385 GO_process GO:0006828 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006828 GO_process GO:0010043 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010043 GO_process GO:0061088 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061088 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 Gene3D 1.20.1510.10 http://www.cathdb.info/version/latest/superfamily/1.20.1510.10 GeneCards SLC30A10 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC30A10 GeneID 55532 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=55532 GeneTree ENSGT00550000074381 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074381 H-InvDB HIX0001600 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0001600 HGNC HGNC:25355 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:25355 HOGENOM HOG000166089 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000166089&db=HOGENOM6 HOVERGEN HBG000588 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG000588&db=HOVERGEN HPA HPA017989 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA017989 InParanoid Q6XR72 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q6XR72 InterPro IPR002524 http://www.ebi.ac.uk/interpro/entry/IPR002524 InterPro IPR027469 http://www.ebi.ac.uk/interpro/entry/IPR027469 Jabion 55532 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=55532 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:55532 http://www.genome.jp/dbget-bin/www_bget?hsa:55532 KEGG_Orthology KO:K14697 http://www.genome.jp/dbget-bin/www_bget?KO:K14697 MIM 611146 http://www.ncbi.nlm.nih.gov/omim/611146 MIM 613280 http://www.ncbi.nlm.nih.gov/omim/613280 OMA AAWFACC http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=AAWFACC Orphanet 309854 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=309854 OrthoDB EOG091G04DT http://cegg.unige.ch/orthodb/results?searchtext=EOG091G04DT PANTHER PTHR11562 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11562 PSORT swissprot:ZNT10_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ZNT10_HUMAN PSORT-B swissprot:ZNT10_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ZNT10_HUMAN PSORT2 swissprot:ZNT10_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ZNT10_HUMAN Pfam PF01545 http://pfam.xfam.org/family/PF01545 PharmGKB PA142670903 http://www.pharmgkb.org/do/serve?objId=PA142670903&objCls=Gene Phobius swissprot:ZNT10_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ZNT10_HUMAN PhylomeDB Q6XR72 http://phylomedb.org/?seqid=Q6XR72 ProteinModelPortal Q6XR72 http://www.proteinmodelportal.org/query/uniprot/Q6XR72 PubMed 15154973 http://www.ncbi.nlm.nih.gov/pubmed/15154973 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 PubMed 22341971 http://www.ncbi.nlm.nih.gov/pubmed/22341971 PubMed 22341972 http://www.ncbi.nlm.nih.gov/pubmed/22341972 PubMed 25582195 http://www.ncbi.nlm.nih.gov/pubmed/25582195 RefSeq NP_061183 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_061183 STRING 9606.ENSP00000355893 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000355893&targetmode=cogs TCDB 2.A.4.2 http://www.tcdb.org/search/result.php?tc=2.A.4.2 TIGRFAMs TIGR01297 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01297 UCSC uc001hlw http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001hlw&org=rat UniGene Hs.284450 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.284450 UniProtKB ZNT10_HUMAN http://www.uniprot.org/uniprot/ZNT10_HUMAN UniProtKB-AC Q6XR72 http://www.uniprot.org/uniprot/Q6XR72 charge swissprot:ZNT10_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ZNT10_HUMAN eggNOG COG1230 http://eggnogapi.embl.de/nog_data/html/tree/COG1230 eggNOG KOG1483 http://eggnogapi.embl.de/nog_data/html/tree/KOG1483 epestfind swissprot:ZNT10_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ZNT10_HUMAN garnier swissprot:ZNT10_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ZNT10_HUMAN helixturnhelix swissprot:ZNT10_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ZNT10_HUMAN hmoment swissprot:ZNT10_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ZNT10_HUMAN iep swissprot:ZNT10_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ZNT10_HUMAN inforesidue swissprot:ZNT10_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ZNT10_HUMAN neXtProt NX_Q6XR72 http://www.nextprot.org/db/entry/NX_Q6XR72 octanol swissprot:ZNT10_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ZNT10_HUMAN pepcoil swissprot:ZNT10_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ZNT10_HUMAN pepdigest swissprot:ZNT10_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ZNT10_HUMAN pepinfo swissprot:ZNT10_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ZNT10_HUMAN pepnet swissprot:ZNT10_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ZNT10_HUMAN pepstats swissprot:ZNT10_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ZNT10_HUMAN pepwheel swissprot:ZNT10_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ZNT10_HUMAN pepwindow swissprot:ZNT10_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ZNT10_HUMAN sigcleave swissprot:ZNT10_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ZNT10_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS KCNH1_HUMAN Event=Alternative splicing; Named isoforms=2; Name=2; Synonyms=hEAGB; IsoId=O95259-1; Sequence=Displayed; Name=1; Synonyms=hEAG; IsoId=O95259-2; Sequence=VSP_000964; # AltName Ether-a-go-go potassium channel 1 {ECO:0000303|PubMed 27325704} # AltName KCNH1_HUMAN Voltage-gated potassium channel subunit Kv10.1 # BioGrid 109958 7 # CCDS CCDS1496 -. [O95259-1] # CCDS CCDS31015 -. [O95259-2] # DISEASE KCNH1_HUMAN Temple-Baraitser syndrome (TMBTS) [MIM 611816] A developmental disorder characterized by intellectual disability, epilepsy, hypoplasia or aplasia of the thumb and great toe nails, and broadening and/or elongation of the thumbs and halluces, which have a tubular aspect. Some patients show facial dysmorphism. {ECO 0000269|PubMed 25420144}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE KCNH1_HUMAN Zimmermann-Laband syndrome 1 (ZLS1) [MIM 135500] A disorder characterized by gingival fibromatosis, dysplastic or absent nails, finger abnormalities, hepatosplenomegaly, and abnormalities of the cartilage of the nose and/or ears. {ECO 0000269|PubMed 25915598}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DOMAIN KCNH1_HUMAN The C-terminal region interacts with the cyclic nucleotide-binding domain and contributes to regulate channel gating. {ECO 0000250|UniProtKB Q60603}. # DOMAIN KCNH1_HUMAN The PAS and PAC domain interact with the cyclic nucleotide-binding domain and contribute to the regulation of channel gating (PubMed 27325704). Calmodulin binding clamps together the PAS and PAC domain with the cyclic nucleotide-binding domain from a neighboring subunit and causes a conformation change that leads to channel closure. {ECO 0000250|UniProtKB Q63472, ECO 0000269|PubMed 27325704}. # DOMAIN KCNH1_HUMAN The cyclic nucleotide-binding domain lacks residues that are essential for nucleotide-binding and cannot bind cyclic nucleotides. Instead, residues from the C-terminal domain (the so- called intrinsic ligand) bind in the cavity that would be expected to bind cyclic nucleotides. Interaction with the C-terminal region hinders interaction with CALM and reduces the affinity for CALM. {ECO 0000250|UniProtKB Q60603}. # DOMAIN KCNH1_HUMAN The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position. {ECO 0000250|UniProtKB Q63472}. # ENZYME REGULATION KCNH1_HUMAN Channel activity is inhibited by interaction with Ca(2+)-bound calmodulin (PubMed 10880439, PubMed 27325704, PubMed 27005320, PubMed 27618660). Interaction of a single pore- forming alpha subunit with a calmodulin chain is sufficient to promote channel closure (PubMed 10880439). Channel activity is not regulated by cyclic nucleotides (By similarity). Channel activity is inhibited by binding intracellular phosphatidylinositol-3,5- bisphosphate and phosphatidylinositol-4,5-bisphosphate (PIP2), but is not inhibited by phosphatidylinositol 4-phosphate (PubMed 27005320). {ECO 0000250|UniProtKB Q60603, ECO 0000269|PubMed 10880439, ECO 0000269|PubMed 27005320, ECO 0000269|PubMed 27325704, ECO 0000269|PubMed 27618660}. # Ensembl ENST00000271751 ENSP00000271751; ENSG00000143473. [O95259-1] # Ensembl ENST00000367007 ENSP00000355974; ENSG00000143473. [O95259-2] # FUNCTION KCNH1_HUMAN Pore-forming (alpha) subunit of a voltage-gated delayed rectifier potassium channel (PubMed 9738473, PubMed 11943152, PubMed 10880439, PubMed 22732247, PubMed 25556795, PubMed 27325704, PubMed 27005320, PubMed 27618660). Channel properties are modulated by subunit assembly (PubMed 11943152). Mediates IK(NI) current in myoblasts (PubMed 9738473). Involved in the regulation of cell proliferation and differentiation, in particular adipogenic and osteogenic differentiation in bone marrow-derived mesenchymal stem cells (MSCs) (PubMed 23881642). {ECO 0000269|PubMed 10880439, ECO 0000269|PubMed 11943152, ECO 0000269|PubMed 22732247, ECO 0000269|PubMed 23881642, ECO 0000269|PubMed 25556795, ECO 0000269|PubMed 27005320, ECO 0000269|PubMed 27325704, ECO 0000269|PubMed 27618660, ECO 0000269|PubMed 9738473}. # GO_component GO:0005637 nuclear inner membrane; IEA:UniProtKB-SubCell. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IDA:UniProtKB. # GO_component GO:0008076 voltage-gated potassium channel complex; IDA:UniProtKB. # GO_component GO:0009986 cell surface; IEA:Ensembl. # GO_component GO:0030425 dendrite; IEA:Ensembl. # GO_component GO:0030673 axolemma; IEA:Ensembl. # GO_component GO:0031901 early endosome membrane; IDA:UniProtKB. # GO_component GO:0042734 presynaptic membrane; IEA:Ensembl. # GO_component GO:0043025 neuronal cell body; IEA:Ensembl. # GO_component GO:0048471 perinuclear region of cytoplasm; IEA:Ensembl. # GO_function GO:0000155 phosphorelay sensor kinase activity; IEA:InterPro. # GO_function GO:0005251 delayed rectifier potassium channel activity; IDA:UniProtKB. # GO_function GO:1902936 phosphatidylinositol bisphosphate binding; IDA:UniProtKB. # GO_process GO:0001964 startle response; IEA:Ensembl. # GO_process GO:0006813 potassium ion transport; TAS:ProtInc. # GO_process GO:0007520 myoblast fusion; TAS:ProtInc. # GO_process GO:0042127 regulation of cell proliferation; IMP:UniProtKB. # GO_process GO:0042391 regulation of membrane potential; IBA:GO_Central. # GO_process GO:0048015 phosphatidylinositol-mediated signaling; IMP:UniProtKB. # GO_process GO:0071277 cellular response to calcium ion; IMP:UniProtKB. # GO_process GO:0071805 potassium ion transmembrane transport; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0008289 lipid binding # GOslim_function GO:0016301 kinase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0048646 anatomical structure formation involved in morphogenesis # GOslim_process GO:0050877 neurological system process # GOslim_process GO:0055085 transmembrane transport # Gene3D 2.60.120.10 -; 1. # Genevisible O95259 HS # HGNC HGNC:6250 KCNH1 # INTERACTION KCNH1_HUMAN P62158 CALM3; NbExp=8; IntAct=EBI-9836801, EBI-397435; Q7L8L6 FASTKD5; NbExp=3; IntAct=EBI-2909270, EBI-747570; P02638 S100B (xeno); NbExp=3; IntAct=EBI-2909270, EBI-458452; O00560 SDCBP; NbExp=3; IntAct=EBI-2909270, EBI-727004; Q96HA8 WDYHV1; NbExp=3; IntAct=EBI-2909270, EBI-741158; # IntAct O95259 10 # InterPro IPR000014 PAS # InterPro IPR000595 cNMP-bd_dom # InterPro IPR000700 PAS-assoc_C # InterPro IPR001610 PAC # InterPro IPR003938 K_chnl_volt-dep_EAG/ELK/ERG # InterPro IPR003949 K_chnl_volt-dep_EAG # InterPro IPR005821 Ion_trans_dom # InterPro IPR014710 RmlC-like_jellyroll # InterPro IPR018490 cNMP-bd-like # KEGG_Brite ko04040 Ion channels # KEGG_Disease H01573 [Skeletal dysplasia; Developmental disorder] Zimmermann-Laband syndrome (ZLS) # MIM 135500 phenotype # MIM 603305 gene # MIM 611816 phenotype # Organism KCNH1_HUMAN Homo sapiens (Human) # PDB 5J7E X-ray; 1.90 A; A/B/C/D/E/F=1-146 # PRINTS PR01463 EAGCHANLFMLY # PRINTS PR01464 EAGCHANNEL # PROSITE PS50042 CNMP_BINDING_3 # PROSITE PS50112 PAS # PROSITE PS50113 PAC # PTM KCNH1_HUMAN Channel activity is regulated via tyrosine phosphorylation/dephosphorylation by SRC and PTPN6 (PubMed 24587194). {ECO 0000269|PubMed 24587194}. # Pfam PF00027 cNMP_binding # Pfam PF00520 Ion_trans # Pfam PF13426 PAS_9 # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-1296072 Voltage gated Potassium channels # RecName KCNH1_HUMAN Potassium voltage-gated channel subfamily H member 1 # RefSeq NP_002229 NM_002238.3. [O95259-2] # RefSeq NP_758872 NM_172362.2. [O95259-1] # SIMILARITY Belongs to the potassium channel family. H (Eag) (TC 1.A.1.20) subfamily. Kv10.1/KCNH1 sub-subfamily. {ECO 0000305}. # SIMILARITY Contains 1 PAC (PAS-associated C-terminal) domain. {ECO:0000255|PROSITE-ProRule PRU00141}. # SIMILARITY Contains 1 PAS (PER-ARNT-SIM) domain. {ECO:0000255|PROSITE-ProRule PRU00140}. # SIMILARITY Contains 1 cyclic nucleotide-binding domain. {ECO:0000255|PROSITE-ProRule PRU00060}. # SMART SM00086 PAC # SMART SM00100 cNMP # SUBCELLULAR LOCATION KCNH1_HUMAN Cell membrane {ECO 0000269|PubMed 10880439, ECO 0000269|PubMed 11943152, ECO 0000269|PubMed 21559285, ECO 0000269|PubMed 22732247, ECO 0000269|PubMed 22841712, ECO 0000269|PubMed 25556795, ECO 0000269|PubMed 27005320, ECO 0000269|PubMed 27325704, ECO 0000269|PubMed 27618660, ECO 0000269|PubMed 9738473}; Multi-pass membrane protein {ECO 0000269|PubMed 21559285}. Nucleus inner membrane {ECO 0000269|PubMed 21559285}; Multi-pass membrane protein {ECO 0000269|PubMed 21559285}. Cell projection, dendrite {ECO 0000250|UniProtKB Q63472}. Cell projection, axon {ECO 0000250|UniProtKB Q63472}. Cell junction, synapse, presynaptic cell membrane {ECO 0000250|UniProtKB Q63472}. Perikaryon {ECO 0000250|UniProtKB Q63472}. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO 0000250|UniProtKB Q63472}. Early endosome membrane {ECO 0000269|PubMed 22841712}. Note=Perinuclear KCNH1 is located to NPC-free islands. # SUBUNIT KCNH1_HUMAN The potassium channel is composed of a homo- or heterotetrameric complex of pore-forming alpha subunits that can associate with modulating beta subunits. Heteromultimer with KCNH5/EAG2 (PubMed 11943152). Interacts with ALG10B (By similarity). Interacts with RABEP1 (By similarity). Interacts (via C-terminus) with CTTN (PubMed 23144454). Interacts (via C-terminal cytoplasmic region) with Ca(2+)-bound calmodulin (PubMed 10880439, PubMed 27325704, PubMed 27618660). {ECO 0000250|UniProtKB Q63472, ECO 0000269|PubMed 10880439, ECO 0000269|PubMed 11943152, ECO 0000269|PubMed 23144454, ECO 0000269|PubMed 27325704, ECO 0000269|PubMed 27618660}. # SUPFAM SSF51206 SSF51206 # SUPFAM SSF55785 SSF55785 # TCDB 1.I.1.1 the nuclear pore complex (npc) family # TIGRFAMs TIGR00229 sensory_box # TISSUE SPECIFICITY KCNH1_HUMAN Highly expressed in brain and in myoblasts at the onset of fusion, but not in other tissues. Detected in HeLa (cervical carcinoma), SH-SY5Y (neuroblastoma) and MCF-7 (epithelial tumor) cells, but not in normal epithelial cells. # UCSC uc001hib human. [O95259-1] # WEB RESOURCE KCNH1_HUMAN Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http //atlasgeneticsoncology.org/Genes/KCNH1ID41048ch1q32.html"; # eggNOG ENOG410XPSE LUCA # eggNOG KOG0498 Eukaryota BLAST swissprot:KCNH1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCNH1_HUMAN BioCyc ZFISH:ENSG00000143473-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000143473-MONOMER COXPRESdb 3756 http://coxpresdb.jp/data/gene/3756.shtml CleanEx HS_KCNH1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNH1 DOI 10.1002/jcp.24435 http://dx.doi.org/10.1002/jcp.24435 DOI 10.1016/S0014-5793(02)02365-7 http://dx.doi.org/10.1016/S0014-5793(02)02365-7 DOI 10.1016/S0014-5793(98)00973-9 http://dx.doi.org/10.1016/S0014-5793(98)00973-9 DOI 10.1016/j.febslet.2012.07.055 http://dx.doi.org/10.1016/j.febslet.2012.07.055 DOI 10.1016/j.jmb.2012.06.025 http://dx.doi.org/10.1016/j.jmb.2012.06.025 DOI 10.1016/j.str.2016.07.020 http://dx.doi.org/10.1016/j.str.2016.07.020 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1038/ng.3153 http://dx.doi.org/10.1038/ng.3153 DOI 10.1038/ng.3282 http://dx.doi.org/10.1038/ng.3282 DOI 10.1038/srep23417 http://dx.doi.org/10.1038/srep23417 DOI 10.1074/jbc.M112.372540 http://dx.doi.org/10.1074/jbc.M112.372540 DOI 10.1074/jbc.M116.733576 http://dx.doi.org/10.1074/jbc.M116.733576 DOI 10.1093/emboj/18.20.5540 http://dx.doi.org/10.1093/emboj/18.20.5540 DOI 10.1093/emboj/19.13.3263 http://dx.doi.org/10.1093/emboj/19.13.3263 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1113/jphysiol.2014.281600 http://dx.doi.org/10.1113/jphysiol.2014.281600 DOI 10.1371/journal.pone.0019257 http://dx.doi.org/10.1371/journal.pone.0019257 DOI 10.1371/journal.pone.0090024 http://dx.doi.org/10.1371/journal.pone.0090024 EMBL AC092017 http://www.ebi.ac.uk/ena/data/view/AC092017 EMBL AC092017 http://www.ebi.ac.uk/ena/data/view/AC092017 EMBL AC096636 http://www.ebi.ac.uk/ena/data/view/AC096636 EMBL AC096636 http://www.ebi.ac.uk/ena/data/view/AC096636 EMBL AC099755 http://www.ebi.ac.uk/ena/data/view/AC099755 EMBL AC099755 http://www.ebi.ac.uk/ena/data/view/AC099755 EMBL AF078741 http://www.ebi.ac.uk/ena/data/view/AF078741 EMBL AF078742 http://www.ebi.ac.uk/ena/data/view/AF078742 EMBL AJ001366 http://www.ebi.ac.uk/ena/data/view/AJ001366 EMBL AL590132 http://www.ebi.ac.uk/ena/data/view/AL590132 EMBL AL590132 http://www.ebi.ac.uk/ena/data/view/AL590132 EMBL BC113709 http://www.ebi.ac.uk/ena/data/view/BC113709 EMBL BC143599 http://www.ebi.ac.uk/ena/data/view/BC143599 EMBL CH471100 http://www.ebi.ac.uk/ena/data/view/CH471100 EMBL CH471100 http://www.ebi.ac.uk/ena/data/view/CH471100 Ensembl ENST00000271751 http://www.ensembl.org/id/ENST00000271751 Ensembl ENST00000367007 http://www.ensembl.org/id/ENST00000367007 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005637 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005637 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0008076 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008076 GO_component GO:0009986 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009986 GO_component GO:0030425 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030425 GO_component GO:0030673 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030673 GO_component GO:0031901 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031901 GO_component GO:0042734 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042734 GO_component GO:0043025 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043025 GO_component GO:0048471 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048471 GO_function GO:0000155 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000155 GO_function GO:0005251 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005251 GO_function GO:1902936 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902936 GO_process GO:0001964 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001964 GO_process GO:0006813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006813 GO_process GO:0007520 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007520 GO_process GO:0042127 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042127 GO_process GO:0042391 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042391 GO_process GO:0048015 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048015 GO_process GO:0071277 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071277 GO_process GO:0071805 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071805 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0008289 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008289 GOslim_function GO:0016301 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016301 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0048646 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048646 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 2.60.120.10 http://www.cathdb.info/version/latest/superfamily/2.60.120.10 GeneCards KCNH1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNH1 GeneID 3756 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=3756 GeneTree ENSGT00760000118772 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118772 HGNC HGNC:6250 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6250 HOGENOM HOG000230794 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000230794&db=HOGENOM6 HOVERGEN HBG101348 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG101348&db=HOVERGEN HPA HPA019445 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA019445 InParanoid O95259 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O95259 IntAct O95259 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O95259* InterPro IPR000014 http://www.ebi.ac.uk/interpro/entry/IPR000014 InterPro IPR000595 http://www.ebi.ac.uk/interpro/entry/IPR000595 InterPro IPR000700 http://www.ebi.ac.uk/interpro/entry/IPR000700 InterPro IPR001610 http://www.ebi.ac.uk/interpro/entry/IPR001610 InterPro IPR003938 http://www.ebi.ac.uk/interpro/entry/IPR003938 InterPro IPR003949 http://www.ebi.ac.uk/interpro/entry/IPR003949 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR014710 http://www.ebi.ac.uk/interpro/entry/IPR014710 InterPro IPR018490 http://www.ebi.ac.uk/interpro/entry/IPR018490 Jabion 3756 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=3756 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H01573 http://www.genome.jp/dbget-bin/www_bget?H01573 KEGG_Gene hsa:3756 http://www.genome.jp/dbget-bin/www_bget?hsa:3756 KEGG_Orthology KO:K04904 http://www.genome.jp/dbget-bin/www_bget?KO:K04904 MIM 135500 http://www.ncbi.nlm.nih.gov/omim/135500 MIM 603305 http://www.ncbi.nlm.nih.gov/omim/603305 MIM 611816 http://www.ncbi.nlm.nih.gov/omim/611816 MINT MINT-138319 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-138319 OMA IRTESWL http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=IRTESWL OrthoDB EOG091G0OXR http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0OXR PDB 5J7E http://www.ebi.ac.uk/pdbe-srv/view/entry/5J7E PDBsum 5J7E http://www.ebi.ac.uk/pdbsum/5J7E PRINTS PR01463 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01463 PRINTS PR01464 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01464 PROSITE PS50042 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50042 PROSITE PS50112 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50112 PROSITE PS50113 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50113 PSORT swissprot:KCNH1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCNH1_HUMAN PSORT-B swissprot:KCNH1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCNH1_HUMAN PSORT2 swissprot:KCNH1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCNH1_HUMAN Pfam PF00027 http://pfam.xfam.org/family/PF00027 Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF13426 http://pfam.xfam.org/family/PF13426 PharmGKB PA30037 http://www.pharmgkb.org/do/serve?objId=PA30037&objCls=Gene Phobius swissprot:KCNH1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCNH1_HUMAN PhylomeDB O95259 http://phylomedb.org/?seqid=O95259 ProteinModelPortal O95259 http://www.proteinmodelportal.org/query/uniprot/O95259 PubMed 10523298 http://www.ncbi.nlm.nih.gov/pubmed/10523298 PubMed 10880439 http://www.ncbi.nlm.nih.gov/pubmed/10880439 PubMed 11943152 http://www.ncbi.nlm.nih.gov/pubmed/11943152 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 21559285 http://www.ncbi.nlm.nih.gov/pubmed/21559285 PubMed 22732247 http://www.ncbi.nlm.nih.gov/pubmed/22732247 PubMed 22841712 http://www.ncbi.nlm.nih.gov/pubmed/22841712 PubMed 23144454 http://www.ncbi.nlm.nih.gov/pubmed/23144454 PubMed 23881642 http://www.ncbi.nlm.nih.gov/pubmed/23881642 PubMed 24587194 http://www.ncbi.nlm.nih.gov/pubmed/24587194 PubMed 25420144 http://www.ncbi.nlm.nih.gov/pubmed/25420144 PubMed 25556795 http://www.ncbi.nlm.nih.gov/pubmed/25556795 PubMed 25915598 http://www.ncbi.nlm.nih.gov/pubmed/25915598 PubMed 27005320 http://www.ncbi.nlm.nih.gov/pubmed/27005320 PubMed 27325704 http://www.ncbi.nlm.nih.gov/pubmed/27325704 PubMed 27618660 http://www.ncbi.nlm.nih.gov/pubmed/27618660 PubMed 9738473 http://www.ncbi.nlm.nih.gov/pubmed/9738473 Reactome R-HSA-1296072 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1296072 RefSeq NP_002229 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_002229 RefSeq NP_758872 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_758872 SMART SM00086 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00086 SMART SM00100 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00100 SMR O95259 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=O95259 STRING 9606.ENSP00000271751 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000271751&targetmode=cogs SUPFAM SSF51206 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF51206 SUPFAM SSF55785 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF55785 TCDB 1.I.1.1 http://www.tcdb.org/search/result.php?tc=1.I.1.1 TIGRFAMs TIGR00229 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00229 UCSC uc001hib http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001hib&org=rat UniGene Hs.553187 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.553187 UniProtKB KCNH1_HUMAN http://www.uniprot.org/uniprot/KCNH1_HUMAN UniProtKB-AC O95259 http://www.uniprot.org/uniprot/O95259 charge swissprot:KCNH1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCNH1_HUMAN eggNOG ENOG410XPSE http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XPSE eggNOG KOG0498 http://eggnogapi.embl.de/nog_data/html/tree/KOG0498 epestfind swissprot:KCNH1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCNH1_HUMAN garnier swissprot:KCNH1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCNH1_HUMAN helixturnhelix swissprot:KCNH1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCNH1_HUMAN hmoment swissprot:KCNH1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCNH1_HUMAN iep swissprot:KCNH1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCNH1_HUMAN inforesidue swissprot:KCNH1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCNH1_HUMAN neXtProt NX_O95259 http://www.nextprot.org/db/entry/NX_O95259 octanol swissprot:KCNH1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCNH1_HUMAN pepcoil swissprot:KCNH1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCNH1_HUMAN pepdigest swissprot:KCNH1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCNH1_HUMAN pepinfo swissprot:KCNH1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCNH1_HUMAN pepnet swissprot:KCNH1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCNH1_HUMAN pepstats swissprot:KCNH1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCNH1_HUMAN pepwheel swissprot:KCNH1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCNH1_HUMAN pepwindow swissprot:KCNH1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCNH1_HUMAN sigcleave swissprot:KCNH1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCNH1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S26A4_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O43511-1; Sequence=Displayed; Name=2; IsoId=O43511-2; Sequence=VSP_056688; Note=No experimental confirmation available.; # AltName S26A4_HUMAN Sodium-independent chloride/iodide transporter # AltName S26A4_HUMAN Solute carrier family 26 member 4 # CCDS CCDS5746 -. [O43511-1] # ChiTaRS SLC26A4 human # DISEASE S26A4_HUMAN Deafness, autosomal recessive, 4 (DFNB4) [MIM 600791] A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNB4 is associated with an enlarged vestibular aqueduct. {ECO 0000269|PubMed 10190331, ECO 0000269|PubMed 10700480, ECO 0000269|PubMed 11748854, ECO 0000269|PubMed 12676893, ECO 0000269|PubMed 14508505, ECO 0000269|PubMed 14679580, ECO 0000269|PubMed 19204907, ECO 0000269|PubMed 20108392, ECO 0000269|PubMed 20597900, ECO 0000269|PubMed 9500541}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE S26A4_HUMAN Pendred syndrome (PDS) [MIM 274600] An autosomal recessive disorder characterized by congenital sensorineural hearing loss in association with thyroid goiter. The disorder may account for up to 10% of the cases of hereditary deafness. The deafness is most often associated with a Mondini cochlear defect. Deafness occurs early, starting at birth or during the first years of life. It is bilateral, sometimes asymmetrical, fluctuant and often progressive. Thyroid perturbations, such as thyroid goiter and/or hypothyroidism appear most commonly during adolescence, but they can be congenital or appear later. {ECO 0000269|PubMed 10602116, ECO 0000269|PubMed 10718825, ECO 0000269|PubMed 10878664, ECO 0000269|PubMed 11317356, ECO 0000269|PubMed 11375792, ECO 0000269|PubMed 11748854, ECO 0000269|PubMed 11919333, ECO 0000269|PubMed 12788906, ECO 0000269|PubMed 12974744, ECO 0000269|PubMed 15355436, ECO 0000269|PubMed 15531480, ECO 0000269|PubMed 15689455, ECO 0000269|PubMed 19204907, ECO 0000269|PubMed 9398842, ECO 0000269|PubMed 9618166, ECO 0000269|PubMed 9618167}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000265715 ENSP00000265715; ENSG00000091137. [O43511-1] # ExpressionAtlas O43511 baseline and differential # FUNCTION S26A4_HUMAN Sodium-independent transporter of chloride and iodide. {ECO 0000269|PubMed 10192399}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0016021 integral component of membrane; TAS:ProtInc. # GO_component GO:0016324 apical plasma membrane; IDA:UniProtKB. # GO_component GO:0031526 brush border membrane; ISS:UniProtKB. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0005254 chloride channel activity; IBA:GO_Central. # GO_function GO:0008271 secondary active sulfate transmembrane transporter activity; IEA:InterPro. # GO_function GO:0015106 bicarbonate transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015108 chloride transmembrane transporter activity; TAS:ProtInc. # GO_function GO:0015111 iodide transmembrane transporter activity; TAS:Reactome. # GO_function GO:0015116 sulfate transmembrane transporter activity; TAS:ProtInc. # GO_function GO:0019531 oxalate transmembrane transporter activity; IBA:GO_Central. # GO_function S26A4_HUMAN GO 0015301 anion anion antiporter activity; IBA GO_Central. # GO_process GO:0006811 ion transport; TAS:Reactome. # GO_process GO:0006885 regulation of pH; ISS:UniProtKB. # GO_process GO:0007605 sensory perception of sound; TAS:ProtInc. # GO_process GO:0008272 sulfate transport; TAS:ProtInc. # GO_process GO:0015698 inorganic anion transport; TAS:ProtInc. # GO_process GO:0015701 bicarbonate transport; IBA:GO_Central. # GO_process GO:0032880 regulation of protein localization; ISS:UniProtKB. # GO_process GO:0042391 regulation of membrane potential; IBA:GO_Central. # GO_process GO:0051453 regulation of intracellular pH; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0050877 neurological system process # Gene3D 3.30.750.24 -; 2. # Genevisible O43511 HS # HGNC HGNC:8818 SLC26A4 # InterPro IPR001902 SLC26A/SulP_fam # InterPro IPR002645 STAS_dom # InterPro IPR011547 SLC26A/SulP_dom # InterPro IPR018045 S04_transporter_CS # InterPro IPR030285 Pendrin # KEGG_Brite ko02001 Solute carrier family # KEGG_Disease H00251 [Endocrine disease] Dyshormogenetic goiter # KEGG_Disease H00605 [Nervous system disease; Nervous system disease] Deafness, autosomal recessive # MIM 274600 phenotype # MIM 600791 phenotype # MIM 605646 gene # Organism S26A4_HUMAN Homo sapiens (Human) # Orphanet 705 Pendred syndrome # Orphanet 90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB # Orphanet 95713 Athyreosis # Orphanet 95720 Thyroid hypoplasia # PANTHER PTHR11814 PTHR11814; 2 # PANTHER PTHR11814:SF33 PTHR11814:SF33; 2 # PROSITE PS01130 SLC26A # PROSITE PS50801 STAS # Pfam PF00916 Sulfate_transp # Pfam PF01740 STAS # Proteomes UP000005640 Chromosome 7 # Reactome R-HSA-427601 Multifunctional anion exchangers # RecName S26A4_HUMAN Pendrin # RefSeq NP_000432 NM_000441.1. [O43511-1] # RefSeq XP_005250482 XM_005250425.2. [O43511-1] # SIMILARITY Belongs to the SLC26A/SulP transporter (TC 2.A.53) family. {ECO 0000305}. # SIMILARITY Contains 1 STAS domain. {ECO:0000255|PROSITE- ProRule PRU00198}. # SUBCELLULAR LOCATION S26A4_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. Cell membrane; Multi-pass membrane protein. Note=Localizes to the apical brush border of cells in the cortical collecting ducts of the kidney. {ECO 0000250}. # SUPFAM SSF52091 SSF52091; 2 # TCDB 2.A.53.2.17 the sulfate permease (sulp) family # TIGRFAMs TIGR00815 sulP # TISSUE SPECIFICITY S26A4_HUMAN High expression in adult thyroid, lower expression in adult and fetal kidney and fetal brain. Not expressed in other tissues. # UCSC uc003vep human. [O43511-1] # WEB RESOURCE S26A4_HUMAN Name=Hereditary hearing loss homepage; Note=Gene page; URL="http //hereditaryhearingloss.org/main.aspx?c=.HHH&n=86162"; # WEB RESOURCE S26A4_HUMAN Name=Protein Spotlight; Note=A missing sense - Issue 133 of November 2011; URL="http //web.expasy.org/spotlight/back_issues/133"; # WEB RESOURCE S26A4_HUMAN Name=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="http //shmpd.bii.a-star.edu.sg/gene.php?genestart=S&genename=SLC26A4+%40+PDS"; # WEB RESOURCE S26A4_HUMAN Name=Wikipedia; Note=Pendrin entry; URL="https //en.wikipedia.org/wiki/Pendrin"; # eggNOG COG0659 LUCA # eggNOG KOG0236 Eukaryota BLAST swissprot:S26A4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S26A4_HUMAN BioCyc ZFISH:ENSG00000091137-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000091137-MONOMER COXPRESdb 5172 http://coxpresdb.jp/data/gene/5172.shtml CleanEx HS_SLC26A4 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC26A4 DOI 10.1002/(SICI)1096-8628(20000103)90:1<38::AID-AJMG8>3.3.CO http://dx.doi.org/10.1002/(SICI)1096-8628(20000103)90:1<38::AID-AJMG8>3.3.CO DOI 10.1002/ajmg.a.20272 http://dx.doi.org/10.1002/ajmg.a.20272 DOI 10.1002/humu.1116 http://dx.doi.org/10.1002/humu.1116 DOI 10.1002/humu.1238 http://dx.doi.org/10.1002/humu.1238 DOI 10.1002/humu.20884 http://dx.doi.org/10.1002/humu.20884 DOI 10.1002/humu.9043 http://dx.doi.org/10.1002/humu.9043 DOI 10.1007/s004390050933 http://dx.doi.org/10.1007/s004390050933 DOI 10.1034/j.1399-0004.2003.00144.x http://dx.doi.org/10.1034/j.1399-0004.2003.00144.x DOI 10.1038/7783 http://dx.doi.org/10.1038/7783 DOI 10.1038/nature01782 http://dx.doi.org/10.1038/nature01782 DOI 10.1038/nature19057 http://dx.doi.org/10.1038/nature19057 DOI 10.1038/ng0398-215 http://dx.doi.org/10.1038/ng0398-215 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1038/ng1297-411 http://dx.doi.org/10.1038/ng1297-411 DOI 10.1038/sj.ejhg.5200489 http://dx.doi.org/10.1038/sj.ejhg.5200489 DOI 10.1038/sj.ejhg.5201073 http://dx.doi.org/10.1038/sj.ejhg.5201073 DOI 10.1046/j.1365-2265.2000.00930.x http://dx.doi.org/10.1046/j.1365-2265.2000.00930.x DOI 10.1093/hmg/7.7.1099 http://dx.doi.org/10.1093/hmg/7.7.1099 DOI 10.1093/hmg/7.7.1105 http://dx.doi.org/10.1093/hmg/7.7.1105 DOI 10.1093/qjmed/93.2.99 http://dx.doi.org/10.1093/qjmed/93.2.99 DOI 10.1097/01.mlg.0000244389.68568.a7 http://dx.doi.org/10.1097/01.mlg.0000244389.68568.a7 DOI 10.1111/j.1399-0004.2004.00296.x http://dx.doi.org/10.1111/j.1399-0004.2004.00296.x DOI 10.1111/j.1469-1809.2010.00581.x http://dx.doi.org/10.1111/j.1469-1809.2010.00581.x DOI 10.1136/jmg.2004.024208 http://dx.doi.org/10.1136/jmg.2004.024208 DOI 10.1136/jmg.40.4.242 http://dx.doi.org/10.1136/jmg.40.4.242 DOI 10.1203/00006450-200204000-00013 http://dx.doi.org/10.1203/00006450-200204000-00013 DOI 10.1210/jc.2002-021334 http://dx.doi.org/10.1210/jc.2002-021334 DOI 10.1210/jc.2004-1013 http://dx.doi.org/10.1210/jc.2004-1013 DOI 10.1210/jc.2006-0142 http://dx.doi.org/10.1210/jc.2006-0142 DOI 10.1210/jc.87.4.1778 http://dx.doi.org/10.1210/jc.87.4.1778 DOI 10.1530/eje.0.1440585 http://dx.doi.org/10.1530/eje.0.1440585 EMBL AC002467 http://www.ebi.ac.uk/ena/data/view/AC002467 EMBL AC078937 http://www.ebi.ac.uk/ena/data/view/AC078937 EMBL AF030880 http://www.ebi.ac.uk/ena/data/view/AF030880 EMBL AK294388 http://www.ebi.ac.uk/ena/data/view/AK294388 Ensembl ENST00000265715 http://www.ensembl.org/id/ENST00000265715 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:0031526 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031526 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0005254 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005254 GO_function GO:0008271 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008271 GO_function GO:0015106 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015106 GO_function GO:0015108 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015108 GO_function GO:0015111 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015111 GO_function GO:0015116 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015116 GO_function GO:0015301 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015301 GO_function GO:0019531 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019531 GO_process GO:0006811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006811 GO_process GO:0006885 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006885 GO_process GO:0007605 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007605 GO_process GO:0008272 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008272 GO_process GO:0015698 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015698 GO_process GO:0015701 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015701 GO_process GO:0032880 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032880 GO_process GO:0042391 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042391 GO_process GO:0051453 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051453 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 Gene3D 3.30.750.24 http://www.cathdb.info/version/latest/superfamily/3.30.750.24 GeneCards SLC26A4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC26A4 GeneID 5172 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=5172 GeneTree ENSGT00760000119026 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119026 H-InvDB HIX0006991 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0006991 HGNC HGNC:8818 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:8818 HOGENOM HOG000006546 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000006546&db=HOGENOM6 HOVERGEN HBG000639 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG000639&db=HOVERGEN HPA HPA042860 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA042860 InParanoid O43511 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O43511 InterPro IPR001902 http://www.ebi.ac.uk/interpro/entry/IPR001902 InterPro IPR002645 http://www.ebi.ac.uk/interpro/entry/IPR002645 InterPro IPR011547 http://www.ebi.ac.uk/interpro/entry/IPR011547 InterPro IPR018045 http://www.ebi.ac.uk/interpro/entry/IPR018045 InterPro IPR030285 http://www.ebi.ac.uk/interpro/entry/IPR030285 Jabion 5172 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=5172 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Disease H00251 http://www.genome.jp/dbget-bin/www_bget?H00251 KEGG_Disease H00605 http://www.genome.jp/dbget-bin/www_bget?H00605 KEGG_Gene hsa:5172 http://www.genome.jp/dbget-bin/www_bget?hsa:5172 KEGG_Orthology KO:K14702 http://www.genome.jp/dbget-bin/www_bget?KO:K14702 MIM 274600 http://www.ncbi.nlm.nih.gov/omim/274600 MIM 600791 http://www.ncbi.nlm.nih.gov/omim/600791 MIM 605646 http://www.ncbi.nlm.nih.gov/omim/605646 OMA PSWNGLG http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=PSWNGLG Orphanet 705 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=705 Orphanet 90636 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=90636 Orphanet 95713 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=95713 Orphanet 95720 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=95720 OrthoDB EOG091G07RT http://cegg.unige.ch/orthodb/results?searchtext=EOG091G07RT PANTHER PTHR11814 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11814 PANTHER PTHR11814:SF33 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11814:SF33 PROSITE PS01130 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS01130 PROSITE PS50801 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50801 PSORT swissprot:S26A4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S26A4_HUMAN PSORT-B swissprot:S26A4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S26A4_HUMAN PSORT2 swissprot:S26A4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S26A4_HUMAN Pfam PF00916 http://pfam.xfam.org/family/PF00916 Pfam PF01740 http://pfam.xfam.org/family/PF01740 PharmGKB PA35506 http://www.pharmgkb.org/do/serve?objId=PA35506&objCls=Gene Phobius swissprot:S26A4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S26A4_HUMAN PhylomeDB O43511 http://phylomedb.org/?seqid=O43511 ProteinModelPortal O43511 http://www.proteinmodelportal.org/query/uniprot/O43511 PubMed 10190331 http://www.ncbi.nlm.nih.gov/pubmed/10190331 PubMed 10192399 http://www.ncbi.nlm.nih.gov/pubmed/10192399 PubMed 10602116 http://www.ncbi.nlm.nih.gov/pubmed/10602116 PubMed 10700480 http://www.ncbi.nlm.nih.gov/pubmed/10700480 PubMed 10718825 http://www.ncbi.nlm.nih.gov/pubmed/10718825 PubMed 10878664 http://www.ncbi.nlm.nih.gov/pubmed/10878664 PubMed 11317356 http://www.ncbi.nlm.nih.gov/pubmed/11317356 PubMed 11375792 http://www.ncbi.nlm.nih.gov/pubmed/11375792 PubMed 11748854 http://www.ncbi.nlm.nih.gov/pubmed/11748854 PubMed 11919333 http://www.ncbi.nlm.nih.gov/pubmed/11919333 PubMed 11932316 http://www.ncbi.nlm.nih.gov/pubmed/11932316 PubMed 12112665 http://www.ncbi.nlm.nih.gov/pubmed/12112665 PubMed 12676893 http://www.ncbi.nlm.nih.gov/pubmed/12676893 PubMed 12788906 http://www.ncbi.nlm.nih.gov/pubmed/12788906 PubMed 12853948 http://www.ncbi.nlm.nih.gov/pubmed/12853948 PubMed 12974744 http://www.ncbi.nlm.nih.gov/pubmed/12974744 PubMed 14508505 http://www.ncbi.nlm.nih.gov/pubmed/14508505 PubMed 14679580 http://www.ncbi.nlm.nih.gov/pubmed/14679580 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15355436 http://www.ncbi.nlm.nih.gov/pubmed/15355436 PubMed 15531480 http://www.ncbi.nlm.nih.gov/pubmed/15531480 PubMed 15689455 http://www.ncbi.nlm.nih.gov/pubmed/15689455 PubMed 16684826 http://www.ncbi.nlm.nih.gov/pubmed/16684826 PubMed 17146393 http://www.ncbi.nlm.nih.gov/pubmed/17146393 PubMed 19204907 http://www.ncbi.nlm.nih.gov/pubmed/19204907 PubMed 20108392 http://www.ncbi.nlm.nih.gov/pubmed/20108392 PubMed 20597900 http://www.ncbi.nlm.nih.gov/pubmed/20597900 PubMed 27535533 http://www.ncbi.nlm.nih.gov/pubmed/27535533 PubMed 9398842 http://www.ncbi.nlm.nih.gov/pubmed/9398842 PubMed 9500541 http://www.ncbi.nlm.nih.gov/pubmed/9500541 PubMed 9618166 http://www.ncbi.nlm.nih.gov/pubmed/9618166 PubMed 9618167 http://www.ncbi.nlm.nih.gov/pubmed/9618167 Reactome R-HSA-427601 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-427601 RefSeq NP_000432 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000432 RefSeq XP_005250482 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005250482 STRING 9606.ENSP00000265715 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000265715&targetmode=cogs SUPFAM SSF52091 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52091 TCDB 2.A.53.2.17 http://www.tcdb.org/search/result.php?tc=2.A.53.2.17 TIGRFAMs TIGR00815 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00815 UCSC uc003vep http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003vep&org=rat UniGene Hs.571246 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.571246 UniProtKB S26A4_HUMAN http://www.uniprot.org/uniprot/S26A4_HUMAN UniProtKB-AC O43511 http://www.uniprot.org/uniprot/O43511 charge swissprot:S26A4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S26A4_HUMAN eggNOG COG0659 http://eggnogapi.embl.de/nog_data/html/tree/COG0659 eggNOG KOG0236 http://eggnogapi.embl.de/nog_data/html/tree/KOG0236 epestfind swissprot:S26A4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S26A4_HUMAN garnier swissprot:S26A4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S26A4_HUMAN helixturnhelix swissprot:S26A4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S26A4_HUMAN hmoment swissprot:S26A4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S26A4_HUMAN iep swissprot:S26A4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S26A4_HUMAN inforesidue swissprot:S26A4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S26A4_HUMAN neXtProt NX_O43511 http://www.nextprot.org/db/entry/NX_O43511 octanol swissprot:S26A4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S26A4_HUMAN pepcoil swissprot:S26A4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S26A4_HUMAN pepdigest swissprot:S26A4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S26A4_HUMAN pepinfo swissprot:S26A4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S26A4_HUMAN pepnet swissprot:S26A4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S26A4_HUMAN pepstats swissprot:S26A4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S26A4_HUMAN pepwheel swissprot:S26A4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S26A4_HUMAN pepwindow swissprot:S26A4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S26A4_HUMAN sigcleave swissprot:S26A4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S26A4_HUMAN ## Database ID URL or Descriptions # AltName S40A1_HUMAN Ferroportin-1 # AltName S40A1_HUMAN Iron-regulated transporter 1 # ChiTaRS SLC40A1 human # DISEASE S40A1_HUMAN Hemochromatosis 4 (HFE4) [MIM 606069] A disorder of iron metabolism characterized by iron overload. Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading. {ECO 0000269|PubMed 10747949, ECO 0000269|PubMed 11431687, ECO 0000269|PubMed 11518736, ECO 0000269|PubMed 12091366, ECO 0000269|PubMed 12091367, ECO 0000269|PubMed 12123233, ECO 0000269|PubMed 12406098, ECO 0000269|PubMed 12730114, ECO 0000269|PubMed 12857562, ECO 0000269|PubMed 12865285, ECO 0000269|PubMed 15338274, ECO 0000269|PubMed 15466004, ECO 0000269|PubMed 16351644}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000261024 ENSP00000261024; ENSG00000138449 # ExpressionAtlas Q9NP59 baseline and differential # FUNCTION S40A1_HUMAN May be involved in iron export from duodenal epithelial cell and also in transfer of iron between maternal and fetal circulation. Mediates iron efflux in the presence of a ferroxidase (hephaestin and/or ceruloplasmin). # GO_component GO:0005622 intracellular; IDA:UniProtKB. # GO_component GO:0005737 cytoplasm; TAS:ProtInc. # GO_component GO:0005771 multivesicular body; IEA:Ensembl. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0005887 integral component of plasma membrane; IC:BHF-UCL. # GO_component GO:0008021 synaptic vesicle; IEA:Ensembl. # GO_component GO:0016021 integral component of membrane; TAS:ProtInc. # GO_component GO:0016323 basolateral plasma membrane; IDA:UniProtKB. # GO_function GO:0004872 receptor activity; ISS:BHF-UCL. # GO_function GO:0005381 iron ion transmembrane transporter activity; IMP:BHF-UCL. # GO_function GO:0015093 ferrous iron transmembrane transporter activity; ISS:BHF-UCL. # GO_function GO:0017046 peptide hormone binding; IPI:BHF-UCL. # GO_function GO:0097689 iron channel activity; ISS:BHF-UCL. # GO_process GO:0002260 lymphocyte homeostasis; IEA:Ensembl. # GO_process GO:0003158 endothelium development; IEA:Ensembl. # GO_process GO:0006879 cellular iron ion homeostasis; IMP:BHF-UCL. # GO_process GO:0034395 regulation of transcription from RNA polymerase II promoter in response to iron; IEA:Ensembl. # GO_process GO:0034755 iron ion transmembrane transport; IMP:BHF-UCL. # GO_process GO:0043066 negative regulation of apoptotic process; IEA:Ensembl. # GO_process GO:0045944 positive regulation of transcription from RNA polymerase II promoter; IEA:Ensembl. # GO_process GO:0060345 spleen trabecula formation; IEA:Ensembl. # GO_process GO:0060586 multicellular organismal iron ion homeostasis; ISS:BHF-UCL. # GO_process GO:1903988 ferrous iron export; ISS:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005622 intracellular # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005768 endosome # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0031410 cytoplasmic vesicle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0002376 immune system process # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0048646 anatomical structure formation involved in morphogenesis # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0055085 transmembrane transport # Genevisible Q9NP59 HS # HGNC HGNC:10909 SLC40A1 # INTERACTION S40A1_HUMAN P05067 APP; NbExp=5; IntAct=EBI-725153, EBI-77613; # IntAct Q9NP59 5 # InterPro IPR009716 Ferroportin-1 # InterPro IPR020846 MFS_dom # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02001 Solute carrier family # KEGG_Disease H00211 [Inherited metabolic disease] Juvenile hemochromatosis (JH) # KEGG_Pathway ko04978 Mineral absorption # MIM 604653 gene # MIM 606069 phenotype # Organism S40A1_HUMAN Homo sapiens (Human) # Orphanet 139491 Hemochromatosis type 4 # Pfam PF06963 FPN1 # Proteomes UP000005640 Chromosome 2 # Reactome R-HSA-425410 Metal ion SLC transporters # Reactome R-HSA-917937 Iron uptake and transport # RecName S40A1_HUMAN Solute carrier family 40 member 1 # RefSeq NP_055400 NM_014585.5 # SIMILARITY Belongs to the ferroportin (FP) (TC 2.A.100) family. SLC40A subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION S40A1_HUMAN Cell membrane {ECO 0000269|PubMed 10882071, ECO 0000269|PubMed 23219802}; Multi-pass membrane protein {ECO 0000269|PubMed 10882071, ECO 0000269|PubMed 23219802}. Note=Localized to the basolateral membrane of polarized epithelial cells. # SUBUNIT Identified in a complex with STOM. {ECO:0000269|PubMed 23219802}. # SUPFAM SSF103473 SSF103473; 3 # TCDB 2.A.100.1 the ferroportin (fpn) family # TISSUE SPECIFICITY S40A1_HUMAN Detected in erythrocytes (at protein level). Expressed in placenta, intestine, muscle and spleen. {ECO 0000269|PubMed 10747949, ECO 0000269|PubMed 23219802}. # UCSC uc002uqp human # eggNOG ENOG410XS3F LUCA # eggNOG KOG2601 Eukaryota BLAST swissprot:S40A1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S40A1_HUMAN BioCyc ZFISH:ENSG00000138449-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000138449-MONOMER COXPRESdb 30061 http://coxpresdb.jp/data/gene/30061.shtml CleanEx HS_SLC40A1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC40A1 DOI 10.1007/s00439-004-1166-y http://dx.doi.org/10.1007/s00439-004-1166-y DOI 10.1016/S0168-8278(03)00148-X http://dx.doi.org/10.1016/S0168-8278(03)00148-X DOI 10.1016/S1079-9796(03)00164-5 http://dx.doi.org/10.1016/S1079-9796(03)00164-5 DOI 10.1016/S1097-2765(00)80425-6 http://dx.doi.org/10.1016/S1097-2765(00)80425-6 DOI 10.1016/j.bbamem.2012.11.030 http://dx.doi.org/10.1016/j.bbamem.2012.11.030 DOI 10.1016/j.bcmd.2003.08.003 http://dx.doi.org/10.1016/j.bcmd.2003.08.003 DOI 10.1038/35001596 http://dx.doi.org/10.1038/35001596 DOI 10.1038/90038 http://dx.doi.org/10.1038/90038 DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1046/j.1365-2141.2002.03946.x http://dx.doi.org/10.1046/j.1365-2141.2002.03946.x DOI 10.1074/jbc.M000713200 http://dx.doi.org/10.1074/jbc.M000713200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1101/gr.GR1547R http://dx.doi.org/10.1101/gr.GR1547R DOI 10.1111/j.1365-2141.2005.05815.x http://dx.doi.org/10.1111/j.1365-2141.2005.05815.x DOI 10.1136/gut.52.8.1215 http://dx.doi.org/10.1136/gut.52.8.1215 DOI 10.1136/jmg.2004.020644 http://dx.doi.org/10.1136/jmg.2004.020644 DOI 10.1172/JCI200113468 http://dx.doi.org/10.1172/JCI200113468 DOI 10.1182/blood-2001-11-0132 http://dx.doi.org/10.1182/blood-2001-11-0132 DOI 10.1182/blood-2002-03-0693 http://dx.doi.org/10.1182/blood-2002-03-0693 DOI 10.1182/blood-2003-02-0439 http://dx.doi.org/10.1182/blood-2003-02-0439 DOI 10.1182/blood.V100.2.692 http://dx.doi.org/10.1182/blood.V100.2.692 EMBL AC013439 http://www.ebi.ac.uk/ena/data/view/AC013439 EMBL AF171087 http://www.ebi.ac.uk/ena/data/view/AF171087 EMBL AF215636 http://www.ebi.ac.uk/ena/data/view/AF215636 EMBL AF226614 http://www.ebi.ac.uk/ena/data/view/AF226614 EMBL AF231121 http://www.ebi.ac.uk/ena/data/view/AF231121 EMBL AJ604512 http://www.ebi.ac.uk/ena/data/view/AJ604512 EMBL AJ609539 http://www.ebi.ac.uk/ena/data/view/AJ609539 EMBL AJ609540 http://www.ebi.ac.uk/ena/data/view/AJ609540 EMBL AJ616847 http://www.ebi.ac.uk/ena/data/view/AJ616847 EMBL AJ616848 http://www.ebi.ac.uk/ena/data/view/AJ616848 EMBL AK314827 http://www.ebi.ac.uk/ena/data/view/AK314827 EMBL AL136944 http://www.ebi.ac.uk/ena/data/view/AL136944 EMBL BC035893 http://www.ebi.ac.uk/ena/data/view/BC035893 EMBL BC037733 http://www.ebi.ac.uk/ena/data/view/BC037733 EMBL CH471058 http://www.ebi.ac.uk/ena/data/view/CH471058 EMBL CR533564 http://www.ebi.ac.uk/ena/data/view/CR533564 Ensembl ENST00000261024 http://www.ensembl.org/id/ENST00000261024 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005622 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005622 GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005771 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005771 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0008021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008021 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0016323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016323 GO_function GO:0004872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004872 GO_function GO:0005381 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005381 GO_function GO:0015093 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015093 GO_function GO:0017046 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0017046 GO_function GO:0097689 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097689 GO_process GO:0002260 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002260 GO_process GO:0003158 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003158 GO_process GO:0006879 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006879 GO_process GO:0034395 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034395 GO_process GO:0034755 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034755 GO_process GO:0043066 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043066 GO_process GO:0045944 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045944 GO_process GO:0060345 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060345 GO_process GO:0060586 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060586 GO_process GO:1903988 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903988 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005622 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005622 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0031410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0002376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002376 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0048646 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048646 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC40A1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC40A1 GeneID 30061 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=30061 GeneTree ENSGT00390000015143 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000015143 HGNC HGNC:10909 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10909 HOGENOM HOG000234273 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000234273&db=HOGENOM6 HOVERGEN HBG055582 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG055582&db=HOVERGEN HPA HPA065634 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA065634 InParanoid Q9NP59 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9NP59 IntAct Q9NP59 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9NP59* InterPro IPR009716 http://www.ebi.ac.uk/interpro/entry/IPR009716 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 30061 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=30061 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Disease H00211 http://www.genome.jp/dbget-bin/www_bget?H00211 KEGG_Gene hsa:30061 http://www.genome.jp/dbget-bin/www_bget?hsa:30061 KEGG_Orthology KO:K14685 http://www.genome.jp/dbget-bin/www_bget?KO:K14685 KEGG_Pathway ko04978 http://www.genome.jp/kegg-bin/show_pathway?ko04978 MIM 604653 http://www.ncbi.nlm.nih.gov/omim/604653 MIM 606069 http://www.ncbi.nlm.nih.gov/omim/606069 MINT MINT-1404238 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1404238 OMA CLTLCVI http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=CLTLCVI Orphanet 139491 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=139491 OrthoDB EOG091G06RI http://cegg.unige.ch/orthodb/results?searchtext=EOG091G06RI PSORT swissprot:S40A1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S40A1_HUMAN PSORT-B swissprot:S40A1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S40A1_HUMAN PSORT2 swissprot:S40A1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S40A1_HUMAN Pfam PF06963 http://pfam.xfam.org/family/PF06963 PharmGKB PA35805 http://www.pharmgkb.org/do/serve?objId=PA35805&objCls=Gene Phobius swissprot:S40A1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S40A1_HUMAN PhylomeDB Q9NP59 http://phylomedb.org/?seqid=Q9NP59 ProteinModelPortal Q9NP59 http://www.proteinmodelportal.org/query/uniprot/Q9NP59 PubMed 10693807 http://www.ncbi.nlm.nih.gov/pubmed/10693807 PubMed 10747949 http://www.ncbi.nlm.nih.gov/pubmed/10747949 PubMed 10882071 http://www.ncbi.nlm.nih.gov/pubmed/10882071 PubMed 11230166 http://www.ncbi.nlm.nih.gov/pubmed/11230166 PubMed 11431687 http://www.ncbi.nlm.nih.gov/pubmed/11431687 PubMed 11518736 http://www.ncbi.nlm.nih.gov/pubmed/11518736 PubMed 12091366 http://www.ncbi.nlm.nih.gov/pubmed/12091366 PubMed 12091367 http://www.ncbi.nlm.nih.gov/pubmed/12091367 PubMed 12123233 http://www.ncbi.nlm.nih.gov/pubmed/12123233 PubMed 12406098 http://www.ncbi.nlm.nih.gov/pubmed/12406098 PubMed 12730114 http://www.ncbi.nlm.nih.gov/pubmed/12730114 PubMed 12857562 http://www.ncbi.nlm.nih.gov/pubmed/12857562 PubMed 12865285 http://www.ncbi.nlm.nih.gov/pubmed/12865285 PubMed 12873829 http://www.ncbi.nlm.nih.gov/pubmed/12873829 PubMed 14636642 http://www.ncbi.nlm.nih.gov/pubmed/14636642 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 14757427 http://www.ncbi.nlm.nih.gov/pubmed/14757427 PubMed 15338274 http://www.ncbi.nlm.nih.gov/pubmed/15338274 PubMed 15466004 http://www.ncbi.nlm.nih.gov/pubmed/15466004 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 PubMed 16351644 http://www.ncbi.nlm.nih.gov/pubmed/16351644 PubMed 23219802 http://www.ncbi.nlm.nih.gov/pubmed/23219802 Reactome R-HSA-425410 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-425410 Reactome R-HSA-917937 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-917937 RefSeq NP_055400 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_055400 STRING 9606.ENSP00000261024 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000261024&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.100.1 http://www.tcdb.org/search/result.php?tc=2.A.100.1 UCSC uc002uqp http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002uqp&org=rat UniGene Hs.643005 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.643005 UniProtKB S40A1_HUMAN http://www.uniprot.org/uniprot/S40A1_HUMAN UniProtKB-AC Q9NP59 http://www.uniprot.org/uniprot/Q9NP59 charge swissprot:S40A1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S40A1_HUMAN eggNOG ENOG410XS3F http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XS3F eggNOG KOG2601 http://eggnogapi.embl.de/nog_data/html/tree/KOG2601 epestfind swissprot:S40A1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S40A1_HUMAN garnier swissprot:S40A1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S40A1_HUMAN helixturnhelix swissprot:S40A1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S40A1_HUMAN hmoment swissprot:S40A1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S40A1_HUMAN iep swissprot:S40A1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S40A1_HUMAN inforesidue swissprot:S40A1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S40A1_HUMAN neXtProt NX_Q9NP59 http://www.nextprot.org/db/entry/NX_Q9NP59 octanol swissprot:S40A1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S40A1_HUMAN pepcoil swissprot:S40A1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S40A1_HUMAN pepdigest swissprot:S40A1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S40A1_HUMAN pepinfo swissprot:S40A1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S40A1_HUMAN pepnet swissprot:S40A1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S40A1_HUMAN pepstats swissprot:S40A1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S40A1_HUMAN pepwheel swissprot:S40A1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S40A1_HUMAN pepwindow swissprot:S40A1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S40A1_HUMAN sigcleave swissprot:S40A1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S40A1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS ITPR2_HUMAN Event=Alternative splicing; Named isoforms=2; Name=Long; IsoId=Q14571-1; Sequence=Displayed; Name=Short; Synonyms=TIPR; IsoId=Q14571-2; Sequence=VSP_002699, VSP_002700; # AltName ITPR2_HUMAN IP3 receptor isoform 2 # AltName ITPR2_HUMAN Type 2 inositol 1,4,5-trisphosphate receptor # BioGrid 109914 23 # CCDS CCDS41764 -. [Q14571-1] # ChiTaRS ITPR2 human # DISEASE ITPR2_HUMAN Anhidrosis, isolated, with normal sweat glands (ANHD) [MIM 106190] An autosomal recessive disorder characterized by generalized, isolated anhidrosis, severe heat intolerance, and morphologically normal eccrine sweat glands. Body growth, teeth, hair, nails, and skin are normal. {ECO 0000269|PubMed 25329695}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DOMAIN ITPR2_HUMAN The receptor contains a calcium channel in its C-terminal extremity. Its large N-terminal cytoplasmic region has the ligand- binding site in the N-terminus and modulatory sites in the middle portion immediately upstream of the channel region. # DrugBank DB00201 Caffeine # Ensembl ENST00000242737 ENSP00000242737; ENSG00000123104. [Q14571-2] # Ensembl ENST00000381340 ENSP00000370744; ENSG00000123104. [Q14571-1] # ExpressionAtlas Q14571 baseline and differential # FUNCTION ITPR2_HUMAN Receptor for inositol 1,4,5-trisphosphate, a second messenger that mediates the release of intracellular calcium. This release is regulated by cAMP both dependently and independently of PKA (By similarity). {ECO 0000250|UniProtKB Q9Z329}. # GO_component GO:0005789 endoplasmic reticulum membrane; TAS:Reactome. # GO_component GO:0005886 plasma membrane; IDA:BHF-UCL. # GO_component GO:0005938 cell cortex; IEA:Ensembl. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0030667 secretory granule membrane; IBA:GO_Central. # GO_component GO:0031095 platelet dense tubular network membrane; TAS:Reactome. # GO_component GO:0033017 sarcoplasmic reticulum membrane; IMP:BHF-UCL. # GO_component GO:0043235 receptor complex; IDA:MGI. # GO_function GO:0005220 inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity; TAS:ProtInc. # GO_function GO:0005509 calcium ion binding; IBA:GO_Central. # GO_function GO:0015085 calcium ion transmembrane transporter activity; TAS:ProtInc. # GO_function GO:0035091 phosphatidylinositol binding; IBA:GO_Central. # GO_function GO:0070679 inositol 1,4,5 trisphosphate binding; IBA:GO_Central. # GO_process GO:0001666 response to hypoxia; IDA:BHF-UCL. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0007165 signal transduction; TAS:ProtInc. # GO_process GO:0030168 platelet activation; TAS:Reactome. # GO_process GO:0050796 regulation of insulin secretion; TAS:Reactome. # GO_process GO:0071320 cellular response to cAMP; IEA:Ensembl. # GO_process GO:0071361 cellular response to ethanol; IEA:Ensembl. # GO_process GO:1903779 regulation of cardiac conduction; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0008289 lipid binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # Gene3D 1.25.10.30 -; 2. # Genevisible Q14571 HS # HGNC HGNC:6181 ITPR2 # IntAct Q14571 8 # InterPro IPR000493 InsP3_rcpt-bd # InterPro IPR000699 RIH_dom # InterPro IPR005821 Ion_trans_dom # InterPro IPR013662 RIH_assoc-dom # InterPro IPR014821 Ins145_P3_rcpt # InterPro IPR015925 Ryanodine_recept-rel # InterPro IPR016024 ARM-type_fold # InterPro IPR016093 MIR_motif # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02000 Transporters # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04020 Calcium signaling pathway # KEGG_Pathway ko04070 Phosphatidylinositol signaling system # KEGG_Pathway ko04114 Oocyte meiosis # KEGG_Pathway ko04270 Vascular smooth muscle contraction # KEGG_Pathway ko04540 Gap junction # KEGG_Pathway ko04720 Long-term potentiation # KEGG_Pathway ko04723 Retrograde endocannabinoid signaling # KEGG_Pathway ko04724 Glutamatergic synapse # KEGG_Pathway ko04725 Cholinergic synapse # KEGG_Pathway ko04726 Serotonergic synapse # KEGG_Pathway ko04728 Dopaminergic synapse # KEGG_Pathway ko04730 Long-term depression # KEGG_Pathway ko04912 GnRH signaling pathway # KEGG_Pathway ko04970 Salivary secretion # KEGG_Pathway ko04971 Gastric acid secretion # KEGG_Pathway ko04972 Pancreatic secretion # KEGG_Pathway ko05010 Alzheimer's disease # MIM 106190 phenotype # MIM 600144 gene # MISCELLANEOUS ITPR2_HUMAN Calcium appears to inhibit ligand binding to the receptor, most probably by interacting with a distinct calcium- binding protein which then inhibits the receptor. # Organism ITPR2_HUMAN Homo sapiens (Human) # PANTHER PTHR13715 PTHR13715 # PRINTS PR00779 INSP3RECEPTR # PROSITE PS50919 MIR; 5 # PTM ITPR2_HUMAN Phosphorylation by cAMP-dependent PKA on Ser-937 increases calcium release. {ECO 0000250}. # Pfam PF00520 Ion_trans # Pfam PF01365 RYDR_ITPR; 2 # Pfam PF02815 MIR # Pfam PF08454 RIH_assoc # Pfam PF08709 Ins145_P3_rec # Proteomes UP000005640 Chromosome 12 # Reactome R-HSA-112043 PLC beta mediated events # Reactome R-HSA-114508 Effects of PIP2 hydrolysis # Reactome R-HSA-139853 Elevation of cytosolic Ca2+ levels # Reactome R-HSA-1489509 DAG and IP3 signaling # Reactome R-HSA-2029485 Role of phospholipids in phagocytosis # Reactome R-HSA-2871809 FCERI mediated Ca+2 mobilization # Reactome R-HSA-381676 Glucagon-like Peptide-1 (GLP1) regulates insulin secretion # Reactome R-HSA-4086398 Ca2+ pathway # Reactome R-HSA-422356 Regulation of insulin secretion # Reactome R-HSA-5218921 VEGFR2 mediated cell proliferation # Reactome R-HSA-5578775 Ion homeostasis # Reactome R-HSA-5607763 CLEC7A (Dectin-1) induces NFAT activation # Reactome R-HSA-983695 Antigen activates B Cell Receptor (BCR) leading to generation of second messengers # RecName ITPR2_HUMAN Inositol 1,4,5-trisphosphate receptor type 2 # RefSeq NP_002214 NM_002223.3. [Q14571-1] # SIMILARITY Belongs to the InsP3 receptor family. {ECO 0000305}. # SIMILARITY Contains 5 MIR domains. {ECO:0000255|PROSITE- ProRule PRU00131}. # SMART SM00472 MIR; 4 # SUBCELLULAR LOCATION ITPR2_HUMAN Endoplasmic reticulum membrane; Multi-pass membrane protein. # SUBUNIT ITPR2_HUMAN Homotetramer (By similarity). Interacts with CABP1 (PubMed 12032348). Interacts with BOK; regulates ITPR2 expression (By similarity). {ECO 0000250|UniProtKB P29995, ECO 0000269|PubMed 12032348}. # SUPFAM SSF100909 SSF100909; 2 # SUPFAM SSF48371 SSF48371; 3 # SUPFAM SSF82109 SSF82109; 2 # TISSUE SPECIFICITY ITPR2_HUMAN Isoform Short is found in skeletal muscle and heart. # UCSC uc001rhg human. [Q14571-1] # eggNOG ENOG410XR97 LUCA # eggNOG KOG3533 Eukaryota BLAST swissprot:ITPR2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ITPR2_HUMAN BioCyc ZFISH:ENSG00000123104-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000123104-MONOMER COXPRESdb 3709 http://coxpresdb.jp/data/gene/3709.shtml CleanEx HS_ITPR2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ITPR2 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature04569 http://dx.doi.org/10.1038/nature04569 DOI 10.1042/bj3340559 http://dx.doi.org/10.1042/bj3340559 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1073/pnas.102006299 http://dx.doi.org/10.1073/pnas.102006299 DOI 10.1172/JCI70720 http://dx.doi.org/10.1172/JCI70720 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DrugBank DB00201 http://www.drugbank.ca/drugs/DB00201 EMBL AB012610 http://www.ebi.ac.uk/ena/data/view/AB012610 EMBL AC023051 http://www.ebi.ac.uk/ena/data/view/AC023051 EMBL AC023425 http://www.ebi.ac.uk/ena/data/view/AC023425 EMBL AC024093 http://www.ebi.ac.uk/ena/data/view/AC024093 EMBL AC024145 http://www.ebi.ac.uk/ena/data/view/AC024145 EMBL AC055720 http://www.ebi.ac.uk/ena/data/view/AC055720 EMBL D26350 http://www.ebi.ac.uk/ena/data/view/D26350 Ensembl ENST00000242737 http://www.ensembl.org/id/ENST00000242737 Ensembl ENST00000381340 http://www.ensembl.org/id/ENST00000381340 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005789 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005789 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005938 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005938 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0030667 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030667 GO_component GO:0031095 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031095 GO_component GO:0033017 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033017 GO_component GO:0043235 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043235 GO_function GO:0005220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005220 GO_function GO:0005509 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005509 GO_function GO:0015085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015085 GO_function GO:0035091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035091 GO_function GO:0070679 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070679 GO_process GO:0001666 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001666 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GO_process GO:0030168 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030168 GO_process GO:0050796 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050796 GO_process GO:0071320 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071320 GO_process GO:0071361 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071361 GO_process GO:1903779 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903779 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0008289 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008289 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 Gene3D 1.25.10.30 http://www.cathdb.info/version/latest/superfamily/1.25.10.30 GeneCards ITPR2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ITPR2 GeneID 3709 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=3709 GeneTree ENSGT00760000119152 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119152 H-InvDB HIX0036661 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0036661 HGNC HGNC:6181 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6181 HOGENOM HOG000007660 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000007660&db=HOGENOM6 HOVERGEN HBG052158 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052158&db=HOVERGEN HPA HPA059144 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA059144 InParanoid Q14571 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q14571 IntAct Q14571 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q14571* InterPro IPR000493 http://www.ebi.ac.uk/interpro/entry/IPR000493 InterPro IPR000699 http://www.ebi.ac.uk/interpro/entry/IPR000699 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR013662 http://www.ebi.ac.uk/interpro/entry/IPR013662 InterPro IPR014821 http://www.ebi.ac.uk/interpro/entry/IPR014821 InterPro IPR015925 http://www.ebi.ac.uk/interpro/entry/IPR015925 InterPro IPR016024 http://www.ebi.ac.uk/interpro/entry/IPR016024 InterPro IPR016093 http://www.ebi.ac.uk/interpro/entry/IPR016093 Jabion 3709 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=3709 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:3709 http://www.genome.jp/dbget-bin/www_bget?hsa:3709 KEGG_Orthology KO:K04959 http://www.genome.jp/dbget-bin/www_bget?KO:K04959 KEGG_Pathway ko04020 http://www.genome.jp/kegg-bin/show_pathway?ko04020 KEGG_Pathway ko04070 http://www.genome.jp/kegg-bin/show_pathway?ko04070 KEGG_Pathway ko04114 http://www.genome.jp/kegg-bin/show_pathway?ko04114 KEGG_Pathway ko04270 http://www.genome.jp/kegg-bin/show_pathway?ko04270 KEGG_Pathway ko04540 http://www.genome.jp/kegg-bin/show_pathway?ko04540 KEGG_Pathway ko04720 http://www.genome.jp/kegg-bin/show_pathway?ko04720 KEGG_Pathway ko04723 http://www.genome.jp/kegg-bin/show_pathway?ko04723 KEGG_Pathway ko04724 http://www.genome.jp/kegg-bin/show_pathway?ko04724 KEGG_Pathway ko04725 http://www.genome.jp/kegg-bin/show_pathway?ko04725 KEGG_Pathway ko04726 http://www.genome.jp/kegg-bin/show_pathway?ko04726 KEGG_Pathway ko04728 http://www.genome.jp/kegg-bin/show_pathway?ko04728 KEGG_Pathway ko04730 http://www.genome.jp/kegg-bin/show_pathway?ko04730 KEGG_Pathway ko04912 http://www.genome.jp/kegg-bin/show_pathway?ko04912 KEGG_Pathway ko04970 http://www.genome.jp/kegg-bin/show_pathway?ko04970 KEGG_Pathway ko04971 http://www.genome.jp/kegg-bin/show_pathway?ko04971 KEGG_Pathway ko04972 http://www.genome.jp/kegg-bin/show_pathway?ko04972 KEGG_Pathway ko05010 http://www.genome.jp/kegg-bin/show_pathway?ko05010 MIM 106190 http://www.ncbi.nlm.nih.gov/omim/106190 MIM 600144 http://www.ncbi.nlm.nih.gov/omim/600144 MINT MINT-157881 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-157881 OMA SGPRFKE http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=SGPRFKE OrthoDB EOG091G00T2 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G00T2 PANTHER PTHR13715 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR13715 PRINTS PR00779 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00779 PROSITE PS50919 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50919 PSORT swissprot:ITPR2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ITPR2_HUMAN PSORT-B swissprot:ITPR2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ITPR2_HUMAN PSORT2 swissprot:ITPR2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ITPR2_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF01365 http://pfam.xfam.org/family/PF01365 Pfam PF02815 http://pfam.xfam.org/family/PF02815 Pfam PF08454 http://pfam.xfam.org/family/PF08454 Pfam PF08709 http://pfam.xfam.org/family/PF08709 PharmGKB PA29979 http://www.pharmgkb.org/do/serve?objId=PA29979&objCls=Gene Phobius swissprot:ITPR2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ITPR2_HUMAN PhylomeDB Q14571 http://phylomedb.org/?seqid=Q14571 ProteinModelPortal Q14571 http://www.proteinmodelportal.org/query/uniprot/Q14571 PubMed 12032348 http://www.ncbi.nlm.nih.gov/pubmed/12032348 PubMed 16541075 http://www.ncbi.nlm.nih.gov/pubmed/16541075 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 25329695 http://www.ncbi.nlm.nih.gov/pubmed/25329695 PubMed 8081734 http://www.ncbi.nlm.nih.gov/pubmed/8081734 PubMed 9729462 http://www.ncbi.nlm.nih.gov/pubmed/9729462 Reactome R-HSA-112043 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-112043 Reactome R-HSA-114508 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-114508 Reactome R-HSA-139853 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-139853 Reactome R-HSA-1489509 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1489509 Reactome R-HSA-2029485 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2029485 Reactome R-HSA-2871809 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2871809 Reactome R-HSA-381676 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-381676 Reactome R-HSA-4086398 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-4086398 Reactome R-HSA-422356 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-422356 Reactome R-HSA-5218921 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5218921 Reactome R-HSA-5578775 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5578775 Reactome R-HSA-5607763 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5607763 Reactome R-HSA-983695 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-983695 RefSeq NP_002214 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_002214 SMART SM00472 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00472 STRING 9606.ENSP00000370744 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000370744&targetmode=cogs SUPFAM SSF100909 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF100909 SUPFAM SSF48371 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48371 SUPFAM SSF82109 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF82109 UCSC uc001rhg http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001rhg&org=rat UniGene Hs.512235 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.512235 UniProtKB ITPR2_HUMAN http://www.uniprot.org/uniprot/ITPR2_HUMAN UniProtKB-AC Q14571 http://www.uniprot.org/uniprot/Q14571 charge swissprot:ITPR2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ITPR2_HUMAN eggNOG ENOG410XR97 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XR97 eggNOG KOG3533 http://eggnogapi.embl.de/nog_data/html/tree/KOG3533 epestfind swissprot:ITPR2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ITPR2_HUMAN garnier swissprot:ITPR2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ITPR2_HUMAN helixturnhelix swissprot:ITPR2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ITPR2_HUMAN hmoment swissprot:ITPR2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ITPR2_HUMAN iep swissprot:ITPR2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ITPR2_HUMAN inforesidue swissprot:ITPR2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ITPR2_HUMAN neXtProt NX_Q14571 http://www.nextprot.org/db/entry/NX_Q14571 octanol swissprot:ITPR2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ITPR2_HUMAN pepcoil swissprot:ITPR2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ITPR2_HUMAN pepdigest swissprot:ITPR2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ITPR2_HUMAN pepinfo swissprot:ITPR2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ITPR2_HUMAN pepnet swissprot:ITPR2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ITPR2_HUMAN pepstats swissprot:ITPR2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ITPR2_HUMAN pepwheel swissprot:ITPR2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ITPR2_HUMAN pepwindow swissprot:ITPR2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ITPR2_HUMAN sigcleave swissprot:ITPR2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ITPR2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS DSCR3_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O14972-1; Sequence=Displayed; Name=2; IsoId=O14972-2; Sequence=VSP_056598; Note=No experimental confirmation available.; # AltName DSCR3_HUMAN Down syndrome critical region protein A # BioGrid 115596 16 # CCDS CCDS33553 -. [O14972-1] # CCDS CCDS82673 -. [O14972-2] # ChiTaRS DSCR3 human # Ensembl ENST00000309117 ENSP00000311399; ENSG00000157538. [O14972-1] # Ensembl ENST00000476950 ENSP00000419496; ENSG00000157538. [O14972-2] # ExpressionAtlas O14972 baseline and differential # GO_component GO:0005634 nucleus; IDA:UniProtKB. # GO_component GO:0005768 endosome; IBA:GO_Central. # GO_function GO:0008565 protein transporter activity; IBA:GO_Central. # GO_process GO:0006886 intracellular protein transport; IBA:GO_Central. # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005768 endosome # GOslim_function GO:0008565 protein transporter activity # GOslim_process GO:0006810 transport # Genevisible O14972 HS # HGNC HGNC:3044 DSCR3 # IntAct O14972 6 # InterPro IPR014756 Ig_E-set # InterPro IPR028934 Vps26-related # MIM 605298 gene # Organism DSCR3_HUMAN Homo sapiens (Human) # PIR JC5698 JC5698 # Pfam PF03643 Vps26 # Proteomes UP000005640 Chromosome 21 # RecName DSCR3_HUMAN Down syndrome critical region protein 3 # RefSeq NP_001317947 NM_001331018.1 # RefSeq NP_001317951 NM_001331022.1 # RefSeq NP_006043 NM_006052.1. [O14972-1] # SIMILARITY Belongs to the VPS26 family. {ECO 0000305}. # SUPFAM SSF81296 SSF81296 # TISSUE SPECIFICITY DSCR3_HUMAN Ubiquitously expressed. # UCSC uc002ywf human. [O14972-1] # eggNOG ENOG410XS9N LUCA # eggNOG KOG2717 Eukaryota BLAST swissprot:DSCR3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:DSCR3_HUMAN BioCyc ZFISH:ENSG00000157538-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000157538-MONOMER COXPRESdb 10311 http://coxpresdb.jp/data/gene/10311.shtml CleanEx HS_DSCR3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_DSCR3 DIP DIP-47317N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-47317N DOI 10.1038/35012518 http://dx.doi.org/10.1038/35012518 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1093/oxfordjournals.jbchem.a021835 http://dx.doi.org/10.1093/oxfordjournals.jbchem.a021835 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AK300024 http://www.ebi.ac.uk/ena/data/view/AK300024 EMBL AK312707 http://www.ebi.ac.uk/ena/data/view/AK312707 EMBL AK316460 http://www.ebi.ac.uk/ena/data/view/AK316460 EMBL AP001412 http://www.ebi.ac.uk/ena/data/view/AP001412 EMBL AP001432 http://www.ebi.ac.uk/ena/data/view/AP001432 EMBL BC110655 http://www.ebi.ac.uk/ena/data/view/BC110655 EMBL CH471079 http://www.ebi.ac.uk/ena/data/view/CH471079 EMBL D87343 http://www.ebi.ac.uk/ena/data/view/D87343 Ensembl ENST00000309117 http://www.ensembl.org/id/ENST00000309117 Ensembl ENST00000476950 http://www.ensembl.org/id/ENST00000476950 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GO_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GO_process GO:0006886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006886 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GeneCards DSCR3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=DSCR3 GeneID 10311 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=10311 GeneTree ENSGT00390000009324 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000009324 H-InvDB HIX0022605 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0022605 HGNC HGNC:3044 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:3044 HOGENOM HOG000294089 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000294089&db=HOGENOM6 HOVERGEN HBG051411 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG051411&db=HOVERGEN HPA CAB016377 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB016377 HPA HPA023288 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA023288 InParanoid O14972 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O14972 IntAct O14972 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O14972* InterPro IPR014756 http://www.ebi.ac.uk/interpro/entry/IPR014756 InterPro IPR028934 http://www.ebi.ac.uk/interpro/entry/IPR028934 Jabion 10311 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=10311 KEGG_Gene hsa:10311 http://www.genome.jp/dbget-bin/www_bget?hsa:10311 MIM 605298 http://www.ncbi.nlm.nih.gov/omim/605298 MINT MINT-8247532 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-8247532 OMA PLKLCRM http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=PLKLCRM OrthoDB EOG091G0FCI http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0FCI PSORT swissprot:DSCR3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:DSCR3_HUMAN PSORT-B swissprot:DSCR3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:DSCR3_HUMAN PSORT2 swissprot:DSCR3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:DSCR3_HUMAN Pfam PF03643 http://pfam.xfam.org/family/PF03643 PharmGKB PA27496 http://www.pharmgkb.org/do/serve?objId=PA27496&objCls=Gene Phobius swissprot:DSCR3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:DSCR3_HUMAN PhylomeDB O14972 http://phylomedb.org/?seqid=O14972 ProteinModelPortal O14972 http://www.proteinmodelportal.org/query/uniprot/O14972 PubMed 10830953 http://www.ncbi.nlm.nih.gov/pubmed/10830953 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 9399594 http://www.ncbi.nlm.nih.gov/pubmed/9399594 RefSeq NP_001317947 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001317947 RefSeq NP_001317951 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001317951 RefSeq NP_006043 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_006043 SMR O14972 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=O14972 STRING 9606.ENSP00000311399 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000311399&targetmode=cogs SUPFAM SSF81296 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81296 UCSC uc002ywf http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002ywf&org=rat UniGene Hs.369488 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.369488 UniProtKB DSCR3_HUMAN http://www.uniprot.org/uniprot/DSCR3_HUMAN UniProtKB-AC O14972 http://www.uniprot.org/uniprot/O14972 charge swissprot:DSCR3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:DSCR3_HUMAN eggNOG ENOG410XS9N http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XS9N eggNOG KOG2717 http://eggnogapi.embl.de/nog_data/html/tree/KOG2717 epestfind swissprot:DSCR3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:DSCR3_HUMAN garnier swissprot:DSCR3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:DSCR3_HUMAN helixturnhelix swissprot:DSCR3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:DSCR3_HUMAN hmoment swissprot:DSCR3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:DSCR3_HUMAN iep swissprot:DSCR3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:DSCR3_HUMAN inforesidue swissprot:DSCR3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:DSCR3_HUMAN neXtProt NX_O14972 http://www.nextprot.org/db/entry/NX_O14972 octanol swissprot:DSCR3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:DSCR3_HUMAN pepcoil swissprot:DSCR3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:DSCR3_HUMAN pepdigest swissprot:DSCR3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:DSCR3_HUMAN pepinfo swissprot:DSCR3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:DSCR3_HUMAN pepnet swissprot:DSCR3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:DSCR3_HUMAN pepstats swissprot:DSCR3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:DSCR3_HUMAN pepwheel swissprot:DSCR3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:DSCR3_HUMAN pepwindow swissprot:DSCR3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:DSCR3_HUMAN sigcleave swissprot:DSCR3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:DSCR3_HUMAN ## Database ID URL or Descriptions # AltName ST20_HUMAN Human cervical cancer suppressor gene 1 protein # Ensembl ENST00000478497 ENSP00000453502; ENSG00000180953 # Ensembl ENST00000485386 ENSP00000453693; ENSG00000180953 # Ensembl ENST00000562759 ENSP00000457965; ENSG00000180953 # FUNCTION ST20_HUMAN May act as a tumor suppressor. Promotes apoptosis of cancer cells. {ECO 0000269|PubMed 11857354}. # GO_component GO:0005741 mitochondrial outer membrane; IBA:GO_Central. # GO_function GO:0015267 channel activity; IBA:GO_Central. # GO_function GO:0042803 protein homodimerization activity; IBA:GO_Central. # GO_function GO:0046982 protein heterodimerization activity; IBA:GO_Central. # GO_process GO:0001836 release of cytochrome c from mitochondria; IBA:GO_Central. # GO_process GO:0008053 mitochondrial fusion; IBA:GO_Central. # GO_process GO:0008630 intrinsic apoptotic signaling pathway in response to DNA damage; IBA:GO_Central. # GO_process GO:0043065 positive regulation of apoptotic process; IBA:GO_Central. # GO_process GO:0097192 extrinsic apoptotic signaling pathway in absence of ligand; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007005 mitochondrion organization # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0061024 membrane organization # Genevisible Q9HBF5 HS # HGNC HGNC:33520 ST20 # InterPro IPR026298 Blc2_fam # InterPro IPR026301 ST20 # Organism ST20_HUMAN Homo sapiens (Human) # PANTHER PTHR11256 PTHR11256 # PANTHER PTHR11256:SF2 PTHR11256:SF2 # Proteomes UP000005640 Chromosome 15 # RecName ST20_HUMAN Suppressor of tumorigenicity 20 protein # RefSeq NP_001094349 NM_001100879.1 # RefSeq NP_001094350 NM_001100880.2 # RefSeq NP_001186686 NM_001199757.1 # TISSUE SPECIFICITY Expressed in leukocytes, lung, spleen, liver, heart, kidney, muscle and uterine cervix. Down-regulated in cervical cancer. {ECO:0000269|PubMed 11857354}. # UCSC uc002bez human # eggNOG ENOG410KC8Y Eukaryota # eggNOG ENOG4110P7P LUCA BLAST swissprot:ST20_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ST20_HUMAN BioCyc ZFISH:ENSG00000180953-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000180953-MONOMER COXPRESdb 400410 http://coxpresdb.jp/data/gene/400410.shtml CleanEx HS_ST20 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ST20 DOI 10.1002/ijc.10124 http://dx.doi.org/10.1002/ijc.10124 DOI 10.1038/nature04601 http://dx.doi.org/10.1038/nature04601 EMBL AC015871 http://www.ebi.ac.uk/ena/data/view/AC015871 EMBL AF249277 http://www.ebi.ac.uk/ena/data/view/AF249277 Ensembl ENST00000478497 http://www.ensembl.org/id/ENST00000478497 Ensembl ENST00000485386 http://www.ensembl.org/id/ENST00000485386 Ensembl ENST00000562759 http://www.ensembl.org/id/ENST00000562759 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005741 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005741 GO_function GO:0015267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015267 GO_function GO:0042803 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042803 GO_function GO:0046982 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046982 GO_process GO:0001836 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001836 GO_process GO:0008053 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008053 GO_process GO:0008630 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008630 GO_process GO:0043065 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043065 GO_process GO:0097192 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097192 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007005 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007005 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0061024 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061024 GeneCards ST20 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ST20 GeneID 400410 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=400410 GeneTree ENSGT00510000048456 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00510000048456 H-InvDB HIX0038090 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0038090 HGNC HGNC:33520 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:33520 HOGENOM HOG000169466 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000169466&db=HOGENOM6 InParanoid Q9HBF5 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9HBF5 InterPro IPR026298 http://www.ebi.ac.uk/interpro/entry/IPR026298 InterPro IPR026301 http://www.ebi.ac.uk/interpro/entry/IPR026301 Jabion 400410 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=400410 KEGG_Gene hsa:400410 http://www.genome.jp/dbget-bin/www_bget?hsa:400410 OrthoDB EOG091G10IK http://cegg.unige.ch/orthodb/results?searchtext=EOG091G10IK PANTHER PTHR11256 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11256 PANTHER PTHR11256:SF2 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11256:SF2 PSORT swissprot:ST20_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ST20_HUMAN PSORT-B swissprot:ST20_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ST20_HUMAN PSORT2 swissprot:ST20_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ST20_HUMAN PharmGKB PA162404859 http://www.pharmgkb.org/do/serve?objId=PA162404859&objCls=Gene Phobius swissprot:ST20_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ST20_HUMAN PhylomeDB Q9HBF5 http://phylomedb.org/?seqid=Q9HBF5 ProteinModelPortal Q9HBF5 http://www.proteinmodelportal.org/query/uniprot/Q9HBF5 PubMed 11857354 http://www.ncbi.nlm.nih.gov/pubmed/11857354 PubMed 16572171 http://www.ncbi.nlm.nih.gov/pubmed/16572171 RefSeq NP_001094349 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001094349 RefSeq NP_001094350 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001094350 RefSeq NP_001186686 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001186686 STRING 9606.ENSP00000453502 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000453502&targetmode=cogs UCSC uc002bez http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002bez&org=rat UniGene Hs.729127 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.729127 UniProtKB ST20_HUMAN http://www.uniprot.org/uniprot/ST20_HUMAN UniProtKB-AC Q9HBF5 http://www.uniprot.org/uniprot/Q9HBF5 charge swissprot:ST20_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ST20_HUMAN eggNOG ENOG410KC8Y http://eggnogapi.embl.de/nog_data/html/tree/ENOG410KC8Y eggNOG ENOG4110P7P http://eggnogapi.embl.de/nog_data/html/tree/ENOG4110P7P epestfind swissprot:ST20_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ST20_HUMAN garnier swissprot:ST20_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ST20_HUMAN helixturnhelix swissprot:ST20_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ST20_HUMAN hmoment swissprot:ST20_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ST20_HUMAN iep swissprot:ST20_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ST20_HUMAN inforesidue swissprot:ST20_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ST20_HUMAN neXtProt NX_Q9HBF5 http://www.nextprot.org/db/entry/NX_Q9HBF5 octanol swissprot:ST20_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ST20_HUMAN pepcoil swissprot:ST20_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ST20_HUMAN pepdigest swissprot:ST20_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ST20_HUMAN pepinfo swissprot:ST20_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ST20_HUMAN pepnet swissprot:ST20_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ST20_HUMAN pepstats swissprot:ST20_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ST20_HUMAN pepwheel swissprot:ST20_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ST20_HUMAN pepwindow swissprot:ST20_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ST20_HUMAN sigcleave swissprot:ST20_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ST20_HUMAN ## Database ID URL or Descriptions # AltName KCNC3_HUMAN KSHIIID # AltName KCNC3_HUMAN Voltage-gated potassium channel subunit Kv3.3 # ChiTaRS KCNC3 human # DISEASE KCNC3_HUMAN Spinocerebellar ataxia 13 (SCA13) [MIM 605259] Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA13 is an autosomal dominant cerebellar ataxia (ADCA) characterized by slow progression and variable age at onset, ranging from childhood to late adulthood. Mental retardation can be present in some patients. {ECO 0000269|PubMed 16501573, ECO 0000269|PubMed 19953606, ECO 0000269|PubMed 21479265, ECO 0000269|PubMed 23734863, ECO 0000269|PubMed 25152487, ECO 0000269|PubMed 25756792}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DOMAIN KCNC3_HUMAN The C-terminal cytoplasmic tail contributes to the regulation of channel inactivation and to the interaction with HAX1 and the Arp2/3 complex. {ECO 0000269|PubMed 26997484}. # DOMAIN KCNC3_HUMAN The cytoplasmic N-terminus mediates N-type inactivation. {ECO 0000269|PubMed 26997484}. # DOMAIN KCNC3_HUMAN The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position. {ECO 0000305}. # DrugBank DB06637 Dalfampridine # Ensembl ENST00000477616 ENSP00000434241; ENSG00000131398 # ExpressionAtlas Q14003 baseline and differential # FUNCTION KCNC3_HUMAN Voltage-gated potassium channel that plays an important role in the rapid repolarization of fast-firing brain neurons. The channel opens in response to the voltage difference across the membrane, forming a potassium-selective channel through which potassium ions pass in accordance with their electrochemical gradient. The channel displays rapid activation and inactivation kinetics (PubMed 10712820, PubMed 26997484, PubMed 22289912, PubMed 23734863, PubMed 16501573, PubMed 19953606, PubMed 21479265, PubMed 25756792). It plays a role in the regulation of the frequency, shape and duration of action potentials in Purkinje cells. Required for normal survival of cerebellar neurons, probably via its role in regulating the duration and frequency of action potentials that in turn regulate the activity of voltage-gated Ca(2+) channels and cellular Ca(2+) homeostasis (By similarity). Required for normal motor function (PubMed 23734863, PubMed 16501573, PubMed 19953606, PubMed 21479265, PubMed 25756792). Plays a role in the reorganization of the cortical actin cytoskeleton and the formation of actin veil structures in neuronal growth cones via its interaction with HAX1 and the Arp2/3 complex (PubMed 26997484). {ECO 0000250|UniProtKB Q63959, ECO 0000269|PubMed 10712820, ECO 0000269|PubMed 16501573, ECO 0000269|PubMed 19953606, ECO 0000269|PubMed 21479265, ECO 0000269|PubMed 22289912, ECO 0000269|PubMed 23734863, ECO 0000269|PubMed 25756792, ECO 0000269|PubMed 26997484}. # GO_component GO:0005856 cytoskeleton; IEA:UniProtKB-SubCell. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0005938 cell cortex; IEA:UniProtKB-SubCell. # GO_component GO:0008076 voltage-gated potassium channel complex; IDA:UniProtKB. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0030424 axon; IEA:UniProtKB-SubCell. # GO_component GO:0030425 dendrite; IEA:UniProtKB-SubCell. # GO_component GO:0032591 dendritic spine membrane; IEA:UniProtKB-SubCell. # GO_component GO:0042734 presynaptic membrane; IEA:UniProtKB-SubCell. # GO_component GO:0043204 perikaryon; IEA:UniProtKB-SubCell. # GO_function GO:0005249 voltage-gated potassium channel activity; IMP:UniProtKB. # GO_function GO:0005251 delayed rectifier potassium channel activity; IBA:GO_Central. # GO_process GO:0051260 protein homooligomerization; IEA:InterPro. # GO_process GO:0051262 protein tetramerization; IDA:UniProtKB. # GO_process GO:0071805 potassium ion transmembrane transport; IMP:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005856 cytoskeleton # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.20.120.350 -; 1. # Genevisible Q14003 HS # HGNC HGNC:6235 KCNC3 # InterPro IPR000210 BTB/POZ_dom # InterPro IPR003131 T1-type_BTB # InterPro IPR003968 K_chnl_volt-dep_Kv # InterPro IPR003974 K_chnl_volt-dep_Kv3 # InterPro IPR005404 K_chnl_volt-dep_Kv3.3 # InterPro IPR005821 Ion_trans_dom # InterPro IPR011333 SKP1/BTB/POZ # InterPro IPR021105 K_chnl_volt-dep_Kv3_ID # InterPro IPR027359 Channel_four-helix_dom # InterPro IPR028325 VG_K_chnl # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00063 [Neurodegenerative disease] Spinocerebellar ataxia (SCA) # MIM 176264 gene # MIM 605259 phenotype # Organism KCNC3_HUMAN Homo sapiens (Human) # Orphanet 98768 Spinocerebellar ataxia type 13 # PANTHER PTHR11537 PTHR11537; 3 # PIR S19552 S19552 # PRINTS PR00169 KCHANNEL # PRINTS PR01491 KVCHANNEL # PRINTS PR01498 SHAWCHANNEL # PRINTS PR01582 KV33CHANNEL # PTM KCNC3_HUMAN N-glycosylated. {ECO 0000269|PubMed 25152487}. # Pfam PF00520 Ion_trans # Pfam PF02214 BTB_2 # Pfam PF11404 Potassium_chann # Proteomes UP000005640 Chromosome 19 # Reactome R-HSA-1296072 Voltage gated Potassium channels # RecName KCNC3_HUMAN Potassium voltage-gated channel subfamily C member 3 # RefSeq NP_004968 NM_004977.2 # RefSeq XP_006723266 XM_006723203.2 # RefSeq XP_011525228 XM_011526926.1 # SIMILARITY Belongs to the potassium channel family. C (Shaw) (TC 1.A.1.2) subfamily. Kv3.3/KCNC3 sub-subfamily. {ECO 0000305}. # SMART SM00225 BTB # SUBCELLULAR LOCATION KCNC3_HUMAN Cell membrane {ECO 0000269|PubMed 10712820, ECO 0000269|PubMed 16501573, ECO 0000269|PubMed 19953606, ECO 0000269|PubMed 21479265, ECO 0000269|PubMed 22289912, ECO 0000269|PubMed 23734863, ECO 0000269|PubMed 25152487, ECO 0000269|PubMed 25756792, ECO 0000269|PubMed 26997484}; Multi- pass membrane protein {ECO 0000255}. Cell junction, synapse, presynaptic cell membrane {ECO 0000250|UniProtKB Q63959}; Multi- pass membrane protein {ECO 0000255}. Perikaryon {ECO 0000250|UniProtKB Q63959}. Cell projection, axon {ECO 0000250|UniProtKB Q63959}. Cell projection, dendrite {ECO 0000250|UniProtKB Q63959}. Cell projection, dendritic spine membrane {ECO 0000250|UniProtKB Q01956}; Multi-pass membrane protein {ECO 0000255}. Cytoplasm, cell cortex {ECO 0000269|PubMed 26997484}. Cytoplasm, cytoskeleton {ECO 0000269|PubMed 26997484}. Note=Detected on Purkinje cell dendritic spines (By similarity). Detected at presynaptic calices of Held (By similarity). Colocalizes with the cortical actin cytoskeleton and the Arp2/3 complex (PubMed 26997484). {ECO 0000250|UniProtKB Q01956, ECO 0000250|UniProtKB Q63959, ECO 0000269|PubMed 26997484}. # SUBUNIT KCNC3_HUMAN Homotetramer. Heterotetramer with KCNC1 (PubMed 23734863). Interacts (via C-terminus) with HAX1 (PubMed 26997484). Identified in a complex with ACTR3, a subunit of the Arp2/3 complex; this interaction is indirect and depends on the presence of HAX1 (PubMed 26997484). Interaction with HAX1 modulates channel gating (PubMed 26997484). {ECO 0000269|PubMed 23734863, ECO 0000269|PubMed 26997484}. # SUPFAM SSF54695 SSF54695 # TCDB 1.A.1.2.13 the voltage-gated ion channel (vic) superfamily # UCSC uc002pru human # eggNOG COG1226 LUCA # eggNOG KOG3713 Eukaryota BLAST swissprot:KCNC3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCNC3_HUMAN BioCyc ZFISH:ENSG00000131398-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000131398-MONOMER COXPRESdb 3748 http://coxpresdb.jp/data/gene/3748.shtml CleanEx HS_KCNC3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNC3 DOI 10.1002/humu.21165 http://dx.doi.org/10.1002/humu.21165 DOI 10.1006/exer.1999.0796 http://dx.doi.org/10.1006/exer.1999.0796 DOI 10.1016/j.cell.2016.02.009 http://dx.doi.org/10.1016/j.cell.2016.02.009 DOI 10.1016/j.nbd.2014.08.020 http://dx.doi.org/10.1016/j.nbd.2014.08.020 DOI 10.1038/nature02399 http://dx.doi.org/10.1038/nature02399 DOI 10.1038/ng1758 http://dx.doi.org/10.1038/ng1758 DOI 10.1042/BJ20130034 http://dx.doi.org/10.1042/BJ20130034 DOI 10.1113/jphysiol.2012.228205 http://dx.doi.org/10.1113/jphysiol.2012.228205 DOI 10.1371/journal.pone.0017811 http://dx.doi.org/10.1371/journal.pone.0017811 DOI 10.1371/journal.pone.0116599 http://dx.doi.org/10.1371/journal.pone.0116599 DrugBank DB06637 http://www.drugbank.ca/drugs/DB06637 EMBL AC008655 http://www.ebi.ac.uk/ena/data/view/AC008655 EMBL AF055989 http://www.ebi.ac.uk/ena/data/view/AF055989 EMBL Z11585 http://www.ebi.ac.uk/ena/data/view/Z11585 Ensembl ENST00000477616 http://www.ensembl.org/id/ENST00000477616 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005856 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005938 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005938 GO_component GO:0008076 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008076 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0030424 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030424 GO_component GO:0030425 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030425 GO_component GO:0032591 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032591 GO_component GO:0042734 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042734 GO_component GO:0043204 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043204 GO_function GO:0005249 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005249 GO_function GO:0005251 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005251 GO_process GO:0051260 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051260 GO_process GO:0051262 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051262 GO_process GO:0071805 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071805 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005856 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.20.120.350 http://www.cathdb.info/version/latest/superfamily/1.20.120.350 GeneCards KCNC3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNC3 GeneID 3748 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=3748 GeneTree ENSGT00760000118846 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118846 H-InvDB HIX0202872 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0202872 HGNC HGNC:6235 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6235 HOGENOM HOG000231012 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231012&db=HOGENOM6 HOVERGEN HBG105862 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG105862&db=HOVERGEN HPA HPA018041 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA018041 InParanoid Q14003 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q14003 InterPro IPR000210 http://www.ebi.ac.uk/interpro/entry/IPR000210 InterPro IPR003131 http://www.ebi.ac.uk/interpro/entry/IPR003131 InterPro IPR003968 http://www.ebi.ac.uk/interpro/entry/IPR003968 InterPro IPR003974 http://www.ebi.ac.uk/interpro/entry/IPR003974 InterPro IPR005404 http://www.ebi.ac.uk/interpro/entry/IPR005404 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR011333 http://www.ebi.ac.uk/interpro/entry/IPR011333 InterPro IPR021105 http://www.ebi.ac.uk/interpro/entry/IPR021105 InterPro IPR027359 http://www.ebi.ac.uk/interpro/entry/IPR027359 InterPro IPR028325 http://www.ebi.ac.uk/interpro/entry/IPR028325 Jabion 3748 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=3748 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00063 http://www.genome.jp/dbget-bin/www_bget?H00063 KEGG_Gene hsa:3748 http://www.genome.jp/dbget-bin/www_bget?hsa:3748 KEGG_Orthology KO:K04889 http://www.genome.jp/dbget-bin/www_bget?KO:K04889 MIM 176264 http://www.ncbi.nlm.nih.gov/omim/176264 MIM 605259 http://www.ncbi.nlm.nih.gov/omim/605259 OMA GTWWRRW http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=GTWWRRW Orphanet 98768 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=98768 OrthoDB EOG091G0EJL http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0EJL PANTHER PTHR11537 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11537 PRINTS PR00169 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00169 PRINTS PR01491 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01491 PRINTS PR01498 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01498 PRINTS PR01582 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01582 PSORT swissprot:KCNC3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCNC3_HUMAN PSORT-B swissprot:KCNC3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCNC3_HUMAN PSORT2 swissprot:KCNC3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCNC3_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF02214 http://pfam.xfam.org/family/PF02214 Pfam PF11404 http://pfam.xfam.org/family/PF11404 PharmGKB PA30027 http://www.pharmgkb.org/do/serve?objId=PA30027&objCls=Gene Phobius swissprot:KCNC3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCNC3_HUMAN PhylomeDB Q14003 http://phylomedb.org/?seqid=Q14003 ProteinModelPortal Q14003 http://www.proteinmodelportal.org/query/uniprot/Q14003 PubMed 10712820 http://www.ncbi.nlm.nih.gov/pubmed/10712820 PubMed 15057824 http://www.ncbi.nlm.nih.gov/pubmed/15057824 PubMed 16501573 http://www.ncbi.nlm.nih.gov/pubmed/16501573 PubMed 19953606 http://www.ncbi.nlm.nih.gov/pubmed/19953606 PubMed 21479265 http://www.ncbi.nlm.nih.gov/pubmed/21479265 PubMed 22289912 http://www.ncbi.nlm.nih.gov/pubmed/22289912 PubMed 23734863 http://www.ncbi.nlm.nih.gov/pubmed/23734863 PubMed 25152487 http://www.ncbi.nlm.nih.gov/pubmed/25152487 PubMed 25756792 http://www.ncbi.nlm.nih.gov/pubmed/25756792 PubMed 26997484 http://www.ncbi.nlm.nih.gov/pubmed/26997484 Reactome R-HSA-1296072 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1296072 RefSeq NP_004968 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004968 RefSeq XP_006723266 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006723266 RefSeq XP_011525228 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011525228 SMART SM00225 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00225 STRING 9606.ENSP00000434241 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000434241&targetmode=cogs SUPFAM SSF54695 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF54695 TCDB 1.A.1.2.13 http://www.tcdb.org/search/result.php?tc=1.A.1.2.13 UCSC uc002pru http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002pru&org=rat UniGene Hs.467146 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.467146 UniProtKB KCNC3_HUMAN http://www.uniprot.org/uniprot/KCNC3_HUMAN UniProtKB-AC Q14003 http://www.uniprot.org/uniprot/Q14003 charge swissprot:KCNC3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCNC3_HUMAN eggNOG COG1226 http://eggnogapi.embl.de/nog_data/html/tree/COG1226 eggNOG KOG3713 http://eggnogapi.embl.de/nog_data/html/tree/KOG3713 epestfind swissprot:KCNC3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCNC3_HUMAN garnier swissprot:KCNC3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCNC3_HUMAN helixturnhelix swissprot:KCNC3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCNC3_HUMAN hmoment swissprot:KCNC3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCNC3_HUMAN iep swissprot:KCNC3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCNC3_HUMAN inforesidue swissprot:KCNC3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCNC3_HUMAN neXtProt NX_Q14003 http://www.nextprot.org/db/entry/NX_Q14003 octanol swissprot:KCNC3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCNC3_HUMAN pepcoil swissprot:KCNC3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCNC3_HUMAN pepdigest swissprot:KCNC3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCNC3_HUMAN pepinfo swissprot:KCNC3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCNC3_HUMAN pepnet swissprot:KCNC3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCNC3_HUMAN pepstats swissprot:KCNC3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCNC3_HUMAN pepwheel swissprot:KCNC3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCNC3_HUMAN pepwindow swissprot:KCNC3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCNC3_HUMAN sigcleave swissprot:KCNC3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCNC3_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS P3_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P09131-1; Sequence=Displayed; Name=2; IsoId=P09131-2; Sequence=VSP_043669; Note=No experimental confirmation available.; # AltName P3_HUMAN Solute carrier family 10 member 3 # BioGrid 113889 2 # CCDS CCDS14755 -. [P09131-1] # CCDS CCDS48195 -. [P09131-2] # Ensembl ENST00000263512 ENSP00000263512; ENSG00000126903. [P09131-1] # Ensembl ENST00000369649 ENSP00000358663; ENSG00000126903. [P09131-2] # Ensembl ENST00000393587 ENSP00000377212; ENSG00000126903. [P09131-1] # ExpressionAtlas P09131 baseline and differential # FUNCTION P3_HUMAN The ubiquitous expression and the conservation of the sequence in distant animal species suggest that the gene codes for a protein with housekeeping functions. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_function P3_HUMAN GO 0008508 bile acid sodium symporter activity; IBA GO_Central. # GO_process GO:0032526 response to retinoic acid; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0008150 biological_process # Genevisible P09131 HS # HGNC HGNC:22979 SLC10A3 # InterPro IPR002657:BilAc Na_symport/Acr3 # InterPro IPR004710:Bilac Na_transpt # InterPro IPR030210 SLC10A3 # KEGG_Brite ko02001 Solute carrier family # MIM 312090 gene # Organism P3_HUMAN Homo sapiens (Human) # PANTHER PTHR10361 PTHR10361 # PANTHER PTHR10361:SF3 PTHR10361:SF3 # PIR S01696 S01696 # Pfam PF01758 SBF # Proteomes UP000005640 Chromosome X # RecName P3_HUMAN P3 protein # RefSeq NP_001135863 NM_001142391.2. [P09131-2] # RefSeq NP_001135864 NM_001142392.2. [P09131-1] # RefSeq NP_062822 NM_019848.4. [P09131-1] # RefSeq XP_011529503 XM_011531201.2. [P09131-1] # SIMILARITY Belongs to the bile acid:sodium symporter (BASS) (TC 2.A.28) family. {ECO 0000305}. # SUBCELLULAR LOCATION P3_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # TCDB 2.A.28.1:the bile acid na(+) symporter (bass) family # TIGRFAMs TIGR00841 bass # UCSC uc004flp human. [P09131-1] # eggNOG COG0385 LUCA # eggNOG KOG2718 Eukaryota BLAST swissprot:P3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:P3_HUMAN BioCyc ZFISH:ENSG00000126903-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000126903-MONOMER COXPRESdb 8273 http://coxpresdb.jp/data/gene/8273.shtml CleanEx HS_SLC10A3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC10A3 DOI 10.1038/nature03440 http://dx.doi.org/10.1038/nature03440 DOI 10.1093/hmg/5.5.659 http://dx.doi.org/10.1093/hmg/5.5.659 DOI 10.1093/nar/16.20.9527 http://dx.doi.org/10.1093/nar/16.20.9527 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL BC004966 http://www.ebi.ac.uk/ena/data/view/BC004966 EMBL BX664739 http://www.ebi.ac.uk/ena/data/view/BX664739 EMBL BX664739 http://www.ebi.ac.uk/ena/data/view/BX664739 EMBL CH471172 http://www.ebi.ac.uk/ena/data/view/CH471172 EMBL CH471172 http://www.ebi.ac.uk/ena/data/view/CH471172 EMBL CH471172 http://www.ebi.ac.uk/ena/data/view/CH471172 EMBL L44140 http://www.ebi.ac.uk/ena/data/view/L44140 EMBL X12458 http://www.ebi.ac.uk/ena/data/view/X12458 Ensembl ENST00000263512 http://www.ensembl.org/id/ENST00000263512 Ensembl ENST00000369649 http://www.ensembl.org/id/ENST00000369649 Ensembl ENST00000393587 http://www.ensembl.org/id/ENST00000393587 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0008508 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008508 GO_process GO:0032526 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032526 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GeneCards SLC10A3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC10A3 GeneID 8273 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=8273 GeneTree ENSGT00550000074505 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074505 HGNC HGNC:22979 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:22979 HOGENOM HOG000037944 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000037944&db=HOGENOM6 HOVERGEN HBG002872 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG002872&db=HOVERGEN HPA HPA021656 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA021656 InParanoid P09131 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P09131 IntAct P09131 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P09131* InterPro IPR002657 http://www.ebi.ac.uk/interpro/entry/IPR002657 InterPro IPR004710 http://www.ebi.ac.uk/interpro/entry/IPR004710 InterPro IPR030210 http://www.ebi.ac.uk/interpro/entry/IPR030210 Jabion 8273 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=8273 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:8273 http://www.genome.jp/dbget-bin/www_bget?hsa:8273 KEGG_Orthology KO:K14343 http://www.genome.jp/dbget-bin/www_bget?KO:K14343 MIM 312090 http://www.ncbi.nlm.nih.gov/omim/312090 MINT MINT-4722452 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-4722452 PANTHER PTHR10361 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10361 PANTHER PTHR10361:SF3 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10361:SF3 PSORT swissprot:P3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:P3_HUMAN PSORT-B swissprot:P3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:P3_HUMAN PSORT2 swissprot:P3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:P3_HUMAN Pfam PF01758 http://pfam.xfam.org/family/PF01758 PharmGKB PA134886398 http://www.pharmgkb.org/do/serve?objId=PA134886398&objCls=Gene Phobius swissprot:P3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:P3_HUMAN PhylomeDB P09131 http://phylomedb.org/?seqid=P09131 ProteinModelPortal P09131 http://www.proteinmodelportal.org/query/uniprot/P09131 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15772651 http://www.ncbi.nlm.nih.gov/pubmed/15772651 PubMed 3186440 http://www.ncbi.nlm.nih.gov/pubmed/3186440 PubMed 8733135 http://www.ncbi.nlm.nih.gov/pubmed/8733135 RefSeq NP_001135863 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001135863 RefSeq NP_001135864 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001135864 RefSeq NP_062822 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_062822 RefSeq XP_011529503 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011529503 SMR P09131 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P09131 STRING 9606.ENSP00000263512 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000263512&targetmode=cogs TCDB 2.A.28.1 http://www.tcdb.org/search/result.php?tc=2.A.28.1 TIGRFAMs TIGR00841 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00841 UCSC uc004flp http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc004flp&org=rat UniGene Hs.522826 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.522826 UniProtKB P3_HUMAN http://www.uniprot.org/uniprot/P3_HUMAN UniProtKB-AC P09131 http://www.uniprot.org/uniprot/P09131 charge swissprot:P3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:P3_HUMAN eggNOG COG0385 http://eggnogapi.embl.de/nog_data/html/tree/COG0385 eggNOG KOG2718 http://eggnogapi.embl.de/nog_data/html/tree/KOG2718 epestfind swissprot:P3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:P3_HUMAN garnier swissprot:P3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:P3_HUMAN helixturnhelix swissprot:P3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:P3_HUMAN hmoment swissprot:P3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:P3_HUMAN iep swissprot:P3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:P3_HUMAN inforesidue swissprot:P3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:P3_HUMAN neXtProt NX_P09131 http://www.nextprot.org/db/entry/NX_P09131 octanol swissprot:P3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:P3_HUMAN pepcoil swissprot:P3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:P3_HUMAN pepdigest swissprot:P3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:P3_HUMAN pepinfo swissprot:P3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:P3_HUMAN pepnet swissprot:P3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:P3_HUMAN pepstats swissprot:P3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:P3_HUMAN pepwheel swissprot:P3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:P3_HUMAN pepwindow swissprot:P3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:P3_HUMAN sigcleave swissprot:P3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:P3_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS NMDE1_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q12879-1; Sequence=Displayed; Name=2; IsoId=Q12879-2; Sequence=VSP_044300; # AltName NMDE1_HUMAN Glutamate [NMDA] receptor subunit epsilon-1 # AltName NMDE1_HUMAN N-methyl D-aspartate receptor subtype 2A # BioGrid 109160 16 # CCDS CCDS10539 -. [Q12879-1] # CCDS CCDS45407 -. [Q12879-2] # ChiTaRS GRIN2A human # DISEASE NMDE1_HUMAN Epilepsy, focal, with speech disorder and with or without mental retardation (FESD) [MIM 245570] A highly variable neurologic disorder with features ranging from severe early-onset seizures associated with delayed psychomotor development, persistent speech difficulties, and mental retardation to a more benign entity characterized by childhood onset of mild or asymptomatic seizures associated with transient speech difficulties followed by remission of seizures in adolescence and normal psychomotor development. The disorder encompasses several clinical entities, including Landau-Kleffner syndrome, epileptic encephalopathy with continuous spike and wave during slow-wave sleep, autosomal dominant rolandic epilepsy, mental retardation and speech dyspraxia, and benign epilepsy with centrotemporal spikes. {ECO 0000269|PubMed 20890276, ECO 0000269|PubMed 23033978, ECO 0000269|PubMed 23933818, ECO 0000269|PubMed 23933819, ECO 0000269|PubMed 23933820, ECO 0000269|PubMed 24504326, ECO 0000269|PubMed 24903190}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE NMDE1_HUMAN Note=A chromosomal aberration involving GRIN2A has been found in a family with epilepsy and neurodevelopmental defects. Translocation t(16;17)(p13.2;q11.2). # DISEASE NMDE1_HUMAN Note=GRIN2A somatic mutations have been frequently found in cutaneous malignant melanoma, suggesting that the glutamate signaling pathway may play a role in the pathogenesis of melanoma. {ECO 0000269|PubMed 21499247, ECO 0000269|PubMed 24455489}. # DrugBank DB00145 Glycine # DrugBank DB00289 Atomoxetine # DrugBank DB00312 Pentobarbital # DrugBank DB00418 Secobarbital # DrugBank DB00454 Pethidine # DrugBank DB00659 Acamprosate # DrugBank DB00949 Felbamate # DrugBank DB00996 Gabapentin # DrugBank DB01043 Memantine # DrugBank DB01159 Halothane # DrugBank DB01174 Phenobarbital # DrugBank DB04896 Milnacipran # DrugBank DB06151 Acetylcysteine # DrugBank DB06738 Ketobemidone # Ensembl ENST00000330684 ENSP00000332549; ENSG00000183454. [Q12879-1] # Ensembl ENST00000396573 ENSP00000379818; ENSG00000183454. [Q12879-1] # Ensembl ENST00000562109 ENSP00000454998; ENSG00000183454. [Q12879-2] # ExpressionAtlas Q12879 baseline and differential # FUNCTION NMDE1_HUMAN NMDA receptor subtype of glutamate-gated ion channels possesses high calcium permeability and voltage-dependent sensitivity to magnesium. Activation requires binding of agonist to both types of subunits. # GO_component GO:0005783 endoplasmic reticulum; IEA:Ensembl. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0008021 synaptic vesicle; IEA:Ensembl. # GO_component GO:0009986 cell surface; ISS:BHF-UCL. # GO_component GO:0014069 postsynaptic density; IEA:Ensembl. # GO_component GO:0017146 NMDA selective glutamate receptor complex; IDA:UniProtKB. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0042734 presynaptic membrane; IEA:Ensembl. # GO_component GO:0043005 neuron projection; IEA:Ensembl. # GO_component GO:0045211 postsynaptic membrane; IEA:UniProtKB-SubCell. # GO_function GO:0004972 NMDA glutamate receptor activity; TAS:ProtInc. # GO_function GO:0005088 Ras guanyl-nucleotide exchange factor activity; TAS:Reactome. # GO_function GO:0005234 extracellular-glutamate-gated ion channel activity; IEA:InterPro. # GO_function GO:0005262 calcium channel activity; IEA:Ensembl. # GO_function GO:0008270 zinc ion binding; ISS:UniProtKB. # GO_process GO:0000165 MAPK cascade; TAS:Reactome. # GO_process GO:0001964 startle response; IEA:Ensembl. # GO_process GO:0001975 response to amphetamine; IEA:Ensembl. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0007215 glutamate receptor signaling pathway; TAS:ProtInc. # GO_process GO:0007268 chemical synaptic transmission; TAS:Reactome. # GO_process GO:0007611 learning or memory; TAS:ProtInc. # GO_process GO:0007613 memory; IEA:Ensembl. # GO_process GO:0008104 protein localization; IEA:Ensembl. # GO_process GO:0008542 visual learning; IEA:Ensembl. # GO_process GO:0009611 response to wounding; IEA:Ensembl. # GO_process GO:0019233 sensory perception of pain; IEA:Ensembl. # GO_process GO:0022008 neurogenesis; IEA:Ensembl. # GO_process GO:0030431 sleep; IEA:Ensembl. # GO_process GO:0033058 directional locomotion; IEA:Ensembl. # GO_process GO:0042177 negative regulation of protein catabolic process; IEA:Ensembl. # GO_process GO:0042417 dopamine metabolic process; IEA:Ensembl. # GO_process GO:0042428 serotonin metabolic process; IEA:Ensembl. # GO_process GO:0042493 response to drug; IEA:Ensembl. # GO_process GO:0043065 positive regulation of apoptotic process; IEA:Ensembl. # GO_process GO:0045471 response to ethanol; IDA:UniProtKB. # GO_process GO:0051930 regulation of sensory perception of pain; IEA:Ensembl. # GO_process GO:0060079 excitatory postsynaptic potential; IEA:Ensembl. # GO_process GO:0060291 long-term synaptic potentiation; IEA:Ensembl. # GO_process GO:1900273 positive regulation of long-term synaptic potentiation; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0031410 cytoplasmic vesicle # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006464 cellular protein modification process # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # GOslim_process GO:0030154 cell differentiation # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0040011 locomotion # GOslim_process GO:0050877 neurological system process # Genevisible Q12879 HS # HGNC HGNC:4585 GRIN2A # INTERACTION NMDE1_HUMAN Q62936 Dlg3 (xeno); NbExp=5; IntAct=EBI-7249937, EBI-349596; P78352 DLG4; NbExp=3; IntAct=EBI-7249937, EBI-80389; P31016 Dlg4 (xeno); NbExp=2; IntAct=EBI-7249937, EBI-375655; # IntAct Q12879 4 # InterPro IPR001320 Iontro_rcpt # InterPro IPR001508 Iono_rcpt_met # InterPro IPR001828 ANF_lig-bd_rcpt # InterPro IPR018884 NMDAR2_C # InterPro IPR019594 Glu/Gly-bd # InterPro IPR028082 Peripla_BP_I # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Disease H01514 [Nervous system disease; Epilepsy] Acquired epileptic aphasia # KEGG_Pathway ko04020 Calcium signaling pathway # KEGG_Pathway ko04080 Neuroactive ligand-receptor interaction # KEGG_Pathway ko04713 Circadian entrainment # KEGG_Pathway ko04720 Long-term potentiation # KEGG_Pathway ko04724 Glutamatergic synapse # KEGG_Pathway ko04728 Dopaminergic synapse # KEGG_Pathway ko05010 Alzheimer's disease # KEGG_Pathway ko05014 Amyotrophic lateral sclerosis (ALS) # KEGG_Pathway ko05030 Cocaine addiction # KEGG_Pathway ko05031 Amphetamine addiction # KEGG_Pathway ko05033 Nicotine addiction # KEGG_Pathway ko05034 Alcoholism # KEGG_Pathway ko05322 Systemic lupus erythematosus # MIM 138253 gene # MIM 245570 phenotype # Organism NMDE1_HUMAN Homo sapiens (Human) # Orphanet 163721 Rolandic epilepsy - speech dyspraxia # Orphanet 1945 Rolandic epilepsy # Orphanet 289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation # Orphanet 725 Continuous spikes and waves during sleep # Orphanet 98818 Landau-Kleffner syndrome # PDB 3NFL X-ray; 1.91 A; E/F/G/H=1449-1464 # PDB 5H8F X-ray; 1.81 A; A=401-539, A=661-802 # PDB 5H8H X-ray; 2.23 A; A=401-539, A=661-802 # PDB 5H8N X-ray; 2.50 A; A=401-539, A=661-802 # PDB 5H8Q X-ray; 1.90 A; A=401-539, A=661-802 # PDB 5I2K X-ray; 2.86 A; A=401-539, A=661-802 # PDB 5I2N X-ray; 2.12 A; A=401-539, A=661-802 # PDB 5KCJ X-ray; 2.09 A; A=401-539, A=661-802 # PDB 5KDT X-ray; 2.44 A; A=401-539, A=661-802 # PIR S47555 S47555 # PRINTS PR00177 NMDARECEPTOR # Pfam PF00060 Lig_chan # Pfam PF01094 ANF_receptor # Pfam PF10565 NMDAR2_C # Pfam PF10613 Lig_chan-Glu_bd # Proteomes UP000005640 Chromosome 16 # Reactome R-HSA-438066 Unblocking of NMDA receptor, glutamate binding and activation # Reactome R-HSA-442729 CREB phosphorylation through the activation of CaMKII # Reactome R-HSA-442982 Ras activation uopn Ca2+ infux through NMDA receptor # Reactome R-HSA-5673001 RAF/MAP kinase cascade # Reactome R-HSA-6794361 Interactions of neurexins and neuroligins at synapses # Reactome R-HSA-8849932 SALM protein interactions at the synapses # RecName NMDE1_HUMAN Glutamate receptor ionotropic, NMDA 2A # RefSeq NP_000824 NM_000833.4. [Q12879-1] # RefSeq NP_001127879 NM_001134407.2. [Q12879-1] # RefSeq NP_001127880 NM_001134408.2. [Q12879-2] # RefSeq XP_011520763 XM_011522461.2. [Q12879-2] # SIMILARITY Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. NR2A/GRIN2A subfamily. {ECO 0000305}. # SMART SM00079 PBPe # SMART SM00918 Lig_chan-Glu_bd # SUBCELLULAR LOCATION NMDE1_HUMAN Cell membrane; Multi-pass membrane protein. Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. # SUBUNIT Forms heteromeric channel of a zeta subunit (GRIN1), a epsilon subunit (GRIN2A, GRIN2B, GRIN2C or GRIN2D) and a third subunit (GRIN3A or GRIN3B). Found in a complex with GRIN1 and GRIN3B. Found in a complex with GRIN1, GRIN3A and PPP2CB. Interacts with PDZ domains of AIP1, PATJ and DLG4. Interacts with HIP1 and NETO1 (By similarity). Interacts with LRFN2. Interacts with SNX27 (via PDZ domain); the interaction is required for recycling to the plasma membrane when endocytosed and prevent degradation in lysosomes (By similarity). {ECO 0000250}. # SUPFAM SSF53822 SSF53822 # UCSC uc002czr human. [Q12879-1] # eggNOG ENOG410XNUR LUCA # eggNOG KOG1053 Eukaryota BLAST swissprot:NMDE1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:NMDE1_HUMAN BioCyc ZFISH:G66-32350-MONOMER http://biocyc.org/getid?id=ZFISH:G66-32350-MONOMER COXPRESdb 2903 http://coxpresdb.jp/data/gene/2903.shtml CleanEx HS_GRIN2A http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_GRIN2A DIP DIP-40798N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-40798N DOI 10.1016/0167-4889(94)90086-8 http://dx.doi.org/10.1016/0167-4889(94)90086-8 DOI 10.1038/nature03187 http://dx.doi.org/10.1038/nature03187 DOI 10.1038/ncomms4251 http://dx.doi.org/10.1038/ncomms4251 DOI 10.1038/ng.2726 http://dx.doi.org/10.1038/ng.2726 DOI 10.1038/ng.2727 http://dx.doi.org/10.1038/ng.2727 DOI 10.1038/ng.2728 http://dx.doi.org/10.1038/ng.2728 DOI 10.1038/ng.677 http://dx.doi.org/10.1038/ng.677 DOI 10.1038/ng.810 http://dx.doi.org/10.1038/ng.810 DOI 10.1056/NEJMoa1206524 http://dx.doi.org/10.1056/NEJMoa1206524 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/epi.12663 http://dx.doi.org/10.1111/epi.12663 DOI 10.3389/fonc.2013.00333 http://dx.doi.org/10.3389/fonc.2013.00333 DrugBank DB00145 http://www.drugbank.ca/drugs/DB00145 DrugBank DB00289 http://www.drugbank.ca/drugs/DB00289 DrugBank DB00312 http://www.drugbank.ca/drugs/DB00312 DrugBank DB00418 http://www.drugbank.ca/drugs/DB00418 DrugBank DB00454 http://www.drugbank.ca/drugs/DB00454 DrugBank DB00659 http://www.drugbank.ca/drugs/DB00659 DrugBank DB00949 http://www.drugbank.ca/drugs/DB00949 DrugBank DB00996 http://www.drugbank.ca/drugs/DB00996 DrugBank DB01043 http://www.drugbank.ca/drugs/DB01043 DrugBank DB01159 http://www.drugbank.ca/drugs/DB01159 DrugBank DB01174 http://www.drugbank.ca/drugs/DB01174 DrugBank DB04896 http://www.drugbank.ca/drugs/DB04896 DrugBank DB06151 http://www.drugbank.ca/drugs/DB06151 DrugBank DB06738 http://www.drugbank.ca/drugs/DB06738 EMBL AC006531 http://www.ebi.ac.uk/ena/data/view/AC006531 EMBL AC007218 http://www.ebi.ac.uk/ena/data/view/AC007218 EMBL AC022168 http://www.ebi.ac.uk/ena/data/view/AC022168 EMBL AC026423 http://www.ebi.ac.uk/ena/data/view/AC026423 EMBL AC133565 http://www.ebi.ac.uk/ena/data/view/AC133565 EMBL BC117131 http://www.ebi.ac.uk/ena/data/view/BC117131 EMBL BC143273 http://www.ebi.ac.uk/ena/data/view/BC143273 EMBL U09002 http://www.ebi.ac.uk/ena/data/view/U09002 EMBL U90277 http://www.ebi.ac.uk/ena/data/view/U90277 Ensembl ENST00000330684 http://www.ensembl.org/id/ENST00000330684 Ensembl ENST00000396573 http://www.ensembl.org/id/ENST00000396573 Ensembl ENST00000562109 http://www.ensembl.org/id/ENST00000562109 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0008021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008021 GO_component GO:0009986 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009986 GO_component GO:0014069 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014069 GO_component GO:0017146 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0017146 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0042734 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042734 GO_component GO:0043005 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043005 GO_component GO:0045211 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045211 GO_function GO:0004972 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004972 GO_function GO:0005088 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005088 GO_function GO:0005234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005234 GO_function GO:0005262 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005262 GO_function GO:0008270 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008270 GO_process GO:0000165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000165 GO_process GO:0001964 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001964 GO_process GO:0001975 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001975 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0007215 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007215 GO_process GO:0007268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007268 GO_process GO:0007611 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007611 GO_process GO:0007613 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007613 GO_process GO:0008104 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008104 GO_process GO:0008542 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008542 GO_process GO:0009611 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009611 GO_process GO:0019233 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019233 GO_process GO:0022008 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022008 GO_process GO:0030431 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030431 GO_process GO:0033058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033058 GO_process GO:0042177 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042177 GO_process GO:0042417 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042417 GO_process GO:0042428 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042428 GO_process GO:0042493 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042493 GO_process GO:0043065 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043065 GO_process GO:0045471 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045471 GO_process GO:0051930 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051930 GO_process GO:0060079 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060079 GO_process GO:0060291 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060291 GO_process GO:1900273 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1900273 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0031410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006464 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006464 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0030154 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030154 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0040011 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0040011 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GeneCards GRIN2A http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=GRIN2A GeneID 2903 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=2903 GeneTree ENSGT00760000119186 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119186 HGNC HGNC:4585 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:4585 HOGENOM HOG000113802 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000113802&db=HOGENOM6 HOVERGEN HBG052635 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052635&db=HOVERGEN HPA CAB022725 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB022725 InParanoid Q12879 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q12879 IntAct Q12879 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q12879* InterPro IPR001320 http://www.ebi.ac.uk/interpro/entry/IPR001320 InterPro IPR001508 http://www.ebi.ac.uk/interpro/entry/IPR001508 InterPro IPR001828 http://www.ebi.ac.uk/interpro/entry/IPR001828 InterPro IPR018884 http://www.ebi.ac.uk/interpro/entry/IPR018884 InterPro IPR019594 http://www.ebi.ac.uk/interpro/entry/IPR019594 InterPro IPR028082 http://www.ebi.ac.uk/interpro/entry/IPR028082 Jabion 2903 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=2903 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H01514 http://www.genome.jp/dbget-bin/www_bget?H01514 KEGG_Gene hsa:2903 http://www.genome.jp/dbget-bin/www_bget?hsa:2903 KEGG_Orthology KO:K05209 http://www.genome.jp/dbget-bin/www_bget?KO:K05209 KEGG_Pathway ko04020 http://www.genome.jp/kegg-bin/show_pathway?ko04020 KEGG_Pathway ko04080 http://www.genome.jp/kegg-bin/show_pathway?ko04080 KEGG_Pathway ko04713 http://www.genome.jp/kegg-bin/show_pathway?ko04713 KEGG_Pathway ko04720 http://www.genome.jp/kegg-bin/show_pathway?ko04720 KEGG_Pathway ko04724 http://www.genome.jp/kegg-bin/show_pathway?ko04724 KEGG_Pathway ko04728 http://www.genome.jp/kegg-bin/show_pathway?ko04728 KEGG_Pathway ko05010 http://www.genome.jp/kegg-bin/show_pathway?ko05010 KEGG_Pathway ko05014 http://www.genome.jp/kegg-bin/show_pathway?ko05014 KEGG_Pathway ko05030 http://www.genome.jp/kegg-bin/show_pathway?ko05030 KEGG_Pathway ko05031 http://www.genome.jp/kegg-bin/show_pathway?ko05031 KEGG_Pathway ko05033 http://www.genome.jp/kegg-bin/show_pathway?ko05033 KEGG_Pathway ko05034 http://www.genome.jp/kegg-bin/show_pathway?ko05034 KEGG_Pathway ko05322 http://www.genome.jp/kegg-bin/show_pathway?ko05322 MIM 138253 http://www.ncbi.nlm.nih.gov/omim/138253 MIM 245570 http://www.ncbi.nlm.nih.gov/omim/245570 MINT MINT-414776 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-414776 OMA WEYPLET http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=WEYPLET Orphanet 163721 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=163721 Orphanet 1945 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1945 Orphanet 289266 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=289266 Orphanet 725 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=725 Orphanet 98818 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=98818 OrthoDB EOG091G09KH http://cegg.unige.ch/orthodb/results?searchtext=EOG091G09KH PDB 3NFL http://www.ebi.ac.uk/pdbe-srv/view/entry/3NFL PDB 5H8F http://www.ebi.ac.uk/pdbe-srv/view/entry/5H8F PDB 5H8H http://www.ebi.ac.uk/pdbe-srv/view/entry/5H8H PDB 5H8N http://www.ebi.ac.uk/pdbe-srv/view/entry/5H8N PDB 5H8Q http://www.ebi.ac.uk/pdbe-srv/view/entry/5H8Q PDB 5I2K http://www.ebi.ac.uk/pdbe-srv/view/entry/5I2K PDB 5I2N http://www.ebi.ac.uk/pdbe-srv/view/entry/5I2N PDB 5KCJ http://www.ebi.ac.uk/pdbe-srv/view/entry/5KCJ PDB 5KDT http://www.ebi.ac.uk/pdbe-srv/view/entry/5KDT PDBsum 3NFL http://www.ebi.ac.uk/pdbsum/3NFL PDBsum 5H8F http://www.ebi.ac.uk/pdbsum/5H8F PDBsum 5H8H http://www.ebi.ac.uk/pdbsum/5H8H PDBsum 5H8N http://www.ebi.ac.uk/pdbsum/5H8N PDBsum 5H8Q http://www.ebi.ac.uk/pdbsum/5H8Q PDBsum 5I2K http://www.ebi.ac.uk/pdbsum/5I2K PDBsum 5I2N http://www.ebi.ac.uk/pdbsum/5I2N PDBsum 5KCJ http://www.ebi.ac.uk/pdbsum/5KCJ PDBsum 5KDT http://www.ebi.ac.uk/pdbsum/5KDT PRINTS PR00177 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00177 PSORT swissprot:NMDE1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:NMDE1_HUMAN PSORT-B swissprot:NMDE1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:NMDE1_HUMAN PSORT2 swissprot:NMDE1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:NMDE1_HUMAN Pfam PF00060 http://pfam.xfam.org/family/PF00060 Pfam PF01094 http://pfam.xfam.org/family/PF01094 Pfam PF10565 http://pfam.xfam.org/family/PF10565 Pfam PF10613 http://pfam.xfam.org/family/PF10613 PharmGKB PA28979 http://www.pharmgkb.org/do/serve?objId=PA28979&objCls=Gene Phobius swissprot:NMDE1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:NMDE1_HUMAN PhylomeDB Q12879 http://phylomedb.org/?seqid=Q12879 ProteinModelPortal Q12879 http://www.proteinmodelportal.org/query/uniprot/Q12879 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15616553 http://www.ncbi.nlm.nih.gov/pubmed/15616553 PubMed 20890276 http://www.ncbi.nlm.nih.gov/pubmed/20890276 PubMed 21499247 http://www.ncbi.nlm.nih.gov/pubmed/21499247 PubMed 23033978 http://www.ncbi.nlm.nih.gov/pubmed/23033978 PubMed 23933818 http://www.ncbi.nlm.nih.gov/pubmed/23933818 PubMed 23933819 http://www.ncbi.nlm.nih.gov/pubmed/23933819 PubMed 23933820 http://www.ncbi.nlm.nih.gov/pubmed/23933820 PubMed 24455489 http://www.ncbi.nlm.nih.gov/pubmed/24455489 PubMed 24504326 http://www.ncbi.nlm.nih.gov/pubmed/24504326 PubMed 24903190 http://www.ncbi.nlm.nih.gov/pubmed/24903190 PubMed 8061049 http://www.ncbi.nlm.nih.gov/pubmed/8061049 PubMed 8768735 http://www.ncbi.nlm.nih.gov/pubmed/8768735 Reactome R-HSA-438066 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-438066 Reactome R-HSA-442729 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-442729 Reactome R-HSA-442982 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-442982 Reactome R-HSA-5673001 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5673001 Reactome R-HSA-6794361 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6794361 Reactome R-HSA-8849932 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-8849932 RefSeq NP_000824 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000824 RefSeq NP_001127879 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001127879 RefSeq NP_001127880 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001127880 RefSeq XP_011520763 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011520763 SMART SM00079 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00079 SMART SM00918 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00918 SMR Q12879 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q12879 STRING 9606.ENSP00000332549 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000332549&targetmode=cogs SUPFAM SSF53822 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF53822 UCSC uc002czr http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002czr&org=rat UniGene Hs.411472 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.411472 UniProtKB NMDE1_HUMAN http://www.uniprot.org/uniprot/NMDE1_HUMAN UniProtKB-AC Q12879 http://www.uniprot.org/uniprot/Q12879 charge swissprot:NMDE1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:NMDE1_HUMAN eggNOG ENOG410XNUR http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XNUR eggNOG KOG1053 http://eggnogapi.embl.de/nog_data/html/tree/KOG1053 epestfind swissprot:NMDE1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:NMDE1_HUMAN garnier swissprot:NMDE1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:NMDE1_HUMAN helixturnhelix swissprot:NMDE1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:NMDE1_HUMAN hmoment swissprot:NMDE1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:NMDE1_HUMAN iep swissprot:NMDE1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:NMDE1_HUMAN inforesidue swissprot:NMDE1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:NMDE1_HUMAN neXtProt NX_Q12879 http://www.nextprot.org/db/entry/NX_Q12879 octanol swissprot:NMDE1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:NMDE1_HUMAN pepcoil swissprot:NMDE1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:NMDE1_HUMAN pepdigest swissprot:NMDE1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:NMDE1_HUMAN pepinfo swissprot:NMDE1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:NMDE1_HUMAN pepnet swissprot:NMDE1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:NMDE1_HUMAN pepstats swissprot:NMDE1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:NMDE1_HUMAN pepwheel swissprot:NMDE1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:NMDE1_HUMAN pepwindow swissprot:NMDE1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:NMDE1_HUMAN sigcleave swissprot:NMDE1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:NMDE1_HUMAN ## Database ID URL or Descriptions # AltName S22AP_HUMAN Organic anion transporter UST6 # CDD cd06174 MFS # Ensembl ENST00000306494 ENSP00000307443; ENSG00000196600 # ExpressionAtlas Q6T423 baseline and differential # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_function GO:0005452 inorganic anion exchanger activity; IBA:GO_Central. # GO_function GO:0015347 sodium-independent organic anion transmembrane transporter activity; IBA:GO_Central. # GO_process GO:0043252 sodium-independent organic anion transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # HGNC HGNC:32935 SLC22A25 # InterPro IPR011701 MFS # InterPro IPR020846 MFS_dom # KEGG_Brite ko02000 Transporters # KEGG_Brite ko02001 Solute carrier family # MIM 610792 gene # Organism S22AP_HUMAN Homo sapiens (Human) # PROSITE PS50850 MFS # Pfam PF07690 MFS_1 # Proteomes UP000005640 Chromosome 11 # RecName S22AP_HUMAN Solute carrier family 22 member 25 # RefSeq NP_955384 NM_199352.3 # RefSeq XP_016873176 XM_017017687.1 # SIMILARITY Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family. {ECO 0000305}. # SUBCELLULAR LOCATION S22AP_HUMAN Membrane {ECO 0000255}; Multi-pass membrane protein {ECO 0000255}. # SUPFAM SSF103473 SSF103473 # TCDB 2.A.1.19.33 the major facilitator superfamily (mfs) # TISSUE SPECIFICITY Expressed exclusively in liver in both embryo and adult. {ECO:0000269|PubMed 15054140}. # UCSC uc001nwr human # eggNOG COG0477 LUCA # eggNOG KOG0255 Eukaryota BLAST swissprot:S22AP_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S22AP_HUMAN BioCyc ZFISH:G66-32719-MONOMER http://biocyc.org/getid?id=ZFISH:G66-32719-MONOMER COXPRESdb 387601 http://coxpresdb.jp/data/gene/387601.shtml CleanEx HS_SLC22A25 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC22A25 DOI 10.1038/nature04632 http://dx.doi.org/10.1038/nature04632 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1152/physiolgenomics.00014.2004 http://dx.doi.org/10.1152/physiolgenomics.00014.2004 EMBL AP001880 http://www.ebi.ac.uk/ena/data/view/AP001880 EMBL AP003420 http://www.ebi.ac.uk/ena/data/view/AP003420 EMBL AY437532 http://www.ebi.ac.uk/ena/data/view/AY437532 EMBL BC101316 http://www.ebi.ac.uk/ena/data/view/BC101316 Ensembl ENST00000306494 http://www.ensembl.org/id/ENST00000306494 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0005452 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005452 GO_function GO:0015347 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015347 GO_process GO:0043252 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043252 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GeneCards SLC22A25 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC22A25 GeneID 387601 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=387601 GeneTree ENSGT00760000118852 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118852 H-InvDB HIX0017940 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0017940 HGNC HGNC:32935 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:32935 HOGENOM HOG000234569 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000234569&db=HOGENOM6 HOVERGEN HBG108433 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG108433&db=HOVERGEN HPA HPA039390 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA039390 InParanoid Q6T423 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q6T423 InterPro IPR011701 http://www.ebi.ac.uk/interpro/entry/IPR011701 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 387601 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=387601 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:387601 http://www.genome.jp/dbget-bin/www_bget?hsa:387601 KEGG_Orthology KO:K08206 http://www.genome.jp/dbget-bin/www_bget?KO:K08206 MIM 610792 http://www.ncbi.nlm.nih.gov/omim/610792 OMA APWALNH http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=APWALNH OrthoDB EOG091G04GS http://cegg.unige.ch/orthodb/results?searchtext=EOG091G04GS PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PSORT swissprot:S22AP_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S22AP_HUMAN PSORT-B swissprot:S22AP_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S22AP_HUMAN PSORT2 swissprot:S22AP_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S22AP_HUMAN Pfam PF07690 http://pfam.xfam.org/family/PF07690 PharmGKB PA162403567 http://www.pharmgkb.org/do/serve?objId=PA162403567&objCls=Gene Phobius swissprot:S22AP_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S22AP_HUMAN PhylomeDB Q6T423 http://phylomedb.org/?seqid=Q6T423 ProteinModelPortal Q6T423 http://www.proteinmodelportal.org/query/uniprot/Q6T423 PubMed 15054140 http://www.ncbi.nlm.nih.gov/pubmed/15054140 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16554811 http://www.ncbi.nlm.nih.gov/pubmed/16554811 RefSeq NP_955384 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_955384 RefSeq XP_016873176 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016873176 STRING 9606.ENSP00000307443 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000307443&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.1.19.33 http://www.tcdb.org/search/result.php?tc=2.A.1.19.33 UCSC uc001nwr http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001nwr&org=rat UniGene Hs.332119 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.332119 UniProtKB S22AP_HUMAN http://www.uniprot.org/uniprot/S22AP_HUMAN UniProtKB-AC Q6T423 http://www.uniprot.org/uniprot/Q6T423 charge swissprot:S22AP_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S22AP_HUMAN eggNOG COG0477 http://eggnogapi.embl.de/nog_data/html/tree/COG0477 eggNOG KOG0255 http://eggnogapi.embl.de/nog_data/html/tree/KOG0255 epestfind swissprot:S22AP_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S22AP_HUMAN garnier swissprot:S22AP_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S22AP_HUMAN helixturnhelix swissprot:S22AP_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S22AP_HUMAN hmoment swissprot:S22AP_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S22AP_HUMAN iep swissprot:S22AP_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S22AP_HUMAN inforesidue swissprot:S22AP_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S22AP_HUMAN neXtProt NX_Q6T423 http://www.nextprot.org/db/entry/NX_Q6T423 octanol swissprot:S22AP_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S22AP_HUMAN pepcoil swissprot:S22AP_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S22AP_HUMAN pepdigest swissprot:S22AP_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S22AP_HUMAN pepinfo swissprot:S22AP_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S22AP_HUMAN pepnet swissprot:S22AP_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S22AP_HUMAN pepstats swissprot:S22AP_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S22AP_HUMAN pepwheel swissprot:S22AP_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S22AP_HUMAN pepwindow swissprot:S22AP_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S22AP_HUMAN sigcleave swissprot:S22AP_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S22AP_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS SV2A_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q7L0J3-1; Sequence=Displayed; Name=2; IsoId=Q7L0J3-2; Sequence=VSP_019265; Note=No experimental confirmation available.; # BioGrid 115229 6 # CCDS CCDS940 -. [Q7L0J3-1] # CDD cd06174 MFS; 2 # ChiTaRS SV2A human # DrugBank DB01202 Levetiracetam # Ensembl ENST00000369145 ENSP00000358141; ENSG00000159164. [Q7L0J3-2] # Ensembl ENST00000369146 ENSP00000358142; ENSG00000159164. [Q7L0J3-1] # FUNCTION SV2A_HUMAN Plays a role in the control of regulated secretion in neural and endocrine cells, enhancing selectively low-frequency neurotransmission. Positively regulates vesicle fusion by maintaining the readily releasable pool of secretory vesicles (By similarity). {ECO 0000250}. # GO_component GO:0005737 cytoplasm; IDA:HPA. # GO_component GO:0005783 endoplasmic reticulum; IDA:LIFEdb. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005911 cell-cell junction; IEA:Ensembl. # GO_component GO:0008021 synaptic vesicle; TAS:ParkinsonsUK-UCL. # GO_component GO:0016021 integral component of membrane; IBA:GO_Central. # GO_component GO:0030672 synaptic vesicle membrane; IBA:GO_Central. # GO_component GO:0031594 neuromuscular junction; IEA:Ensembl. # GO_component GO:0043005 neuron projection; IBA:GO_Central. # GO_component GO:0043195 terminal bouton; IEA:Ensembl. # GO_component GO:0048786 presynaptic active zone; IEA:Ensembl. # GO_function GO:0004872 receptor activity; IEA:Ensembl. # GO_function GO:0019901 protein kinase binding; ISS:ParkinsonsUK-UCL. # GO_function GO:0022857 transmembrane transporter activity; IEA:InterPro. # GO_process GO:0001504 neurotransmitter uptake; IBA:GO_Central. # GO_process GO:0006874 cellular calcium ion homeostasis; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0031410 cytoplasmic vesicle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0019899 enzyme binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0042592 homeostatic process # Genevisible Q7L0J3 HS # HGNC HGNC:20566 SV2A # IntAct Q7L0J3 3 # InterPro IPR001646 5peptide_repeat # InterPro IPR005828 MFS_sugar_transport-like # InterPro IPR005829 Sugar_transporter_CS # InterPro IPR011701 MFS # InterPro IPR020846 MFS_dom # InterPro IPR022308 SV2 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02000 Transporters # KEGG_Pathway ko04512 ECM-receptor interaction # MIM 185860 gene # MISCELLANEOUS SV2A_HUMAN Identified as the brain binding-site for the antiepileptic drug levetiracetam/lev. # Organism SV2A_HUMAN Homo sapiens (Human) # PDB 4V11 X-ray; 1.95 A; B=81-90 # PROSITE PS50850 MFS # PTM SV2A_HUMAN N-glycosylated. {ECO 0000250}. # PTM SV2A_HUMAN Phosphorylation by CK1 of the N-terminal cytoplasmic domain regulates interaction with SYT1. {ECO 0000250}. # Pfam PF00083 Sugar_tr # Pfam PF07690 MFS_1 # Pfam PF13599 Pentapeptide_4 # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-5250955 Toxicity of botulinum toxin type D (BoNT/D) # Reactome R-HSA-5250968 Toxicity of botulinum toxin type A (BoNT/A) # Reactome R-HSA-5250981 Toxicity of botulinum toxin type F (BoNT/F) # Reactome R-HSA-5250992 Toxicity of botulinum toxin type E (BoNT/E) # RecName SV2A_HUMAN Synaptic vesicle glycoprotein 2A # RefSeq NP_001265648 NM_001278719.1 # RefSeq NP_001315603 NM_001328674.1. [Q7L0J3-1] # RefSeq NP_001315604 NM_001328675.1. [Q7L0J3-1] # RefSeq NP_055664 NM_014849.4. [Q7L0J3-1] # SEQUENCE CAUTION Sequence=BAA34456.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAI12573.1; Type=Erroneous gene model prediction; Evidence={ECO 0000305}; # SIMILARITY Belongs to the major facilitator superfamily. {ECO 0000305}. # SUBCELLULAR LOCATION SV2A_HUMAN Cell junction, synapse {ECO 0000250|UniProtKB Q9JIS5}. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO 0000250|UniProtKB Q02563}; Multi-pass membrane protein {ECO 0000250|UniProtKB Q02563}. Note=Enriched in chromaffin granules, not present in adrenal microsomes. Associated with both insulin granules and synaptic- like microvesicles in insulin-secreting cells of the pancreas (By similarity). Colocalizes with ATP2B1 at photoreceptor synaptic terminals. {ECO 0000250|UniProtKB Q02563, ECO 0000250|UniProtKB Q9JIS5}. # SUBUNIT Interacts with SYT1/synaptotagmin-1 in a calcium- dependent manner. Binds the adapter protein complex AP-2 (By similarity). {ECO 0000250}. # SUPFAM SSF103473 SSF103473; 3 # TIGRFAMs TIGR01299 synapt_SV2 # UCSC uc001etg human. [Q7L0J3-1] # eggNOG ENOG410IRID Eukaryota # eggNOG ENOG410YQME LUCA BLAST swissprot:SV2A_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SV2A_HUMAN COXPRESdb 9900 http://coxpresdb.jp/data/gene/9900.shtml CleanEx HS_SV2A http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SV2A DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1073/pnas.0308208101 http://dx.doi.org/10.1073/pnas.0308208101 DOI 10.1093/dnares/12.2.117 http://dx.doi.org/10.1093/dnares/12.2.117 DOI 10.1093/dnares/5.5.277 http://dx.doi.org/10.1093/dnares/5.5.277 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/scisignal.2000007 http://dx.doi.org/10.1126/scisignal.2000007 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 DrugBank DB01202 http://www.drugbank.ca/drugs/DB01202 EMBL AB018279 http://www.ebi.ac.uk/ena/data/view/AB018279 EMBL AK075480 http://www.ebi.ac.uk/ena/data/view/AK075480 EMBL AL591493 http://www.ebi.ac.uk/ena/data/view/AL591493 EMBL AL591493 http://www.ebi.ac.uk/ena/data/view/AL591493 EMBL BC000776 http://www.ebi.ac.uk/ena/data/view/BC000776 EMBL BC045111 http://www.ebi.ac.uk/ena/data/view/BC045111 EMBL BX537754 http://www.ebi.ac.uk/ena/data/view/BX537754 EMBL CH471121 http://www.ebi.ac.uk/ena/data/view/CH471121 EMBL CH471121 http://www.ebi.ac.uk/ena/data/view/CH471121 Ensembl ENST00000369145 http://www.ensembl.org/id/ENST00000369145 Ensembl ENST00000369146 http://www.ensembl.org/id/ENST00000369146 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005911 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005911 GO_component GO:0008021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008021 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0030672 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030672 GO_component GO:0031594 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031594 GO_component GO:0043005 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043005 GO_component GO:0043195 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043195 GO_component GO:0048786 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048786 GO_function GO:0004872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004872 GO_function GO:0019901 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019901 GO_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GO_process GO:0001504 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001504 GO_process GO:0006874 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006874 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0031410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GeneCards SV2A http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SV2A GeneID 9900 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=9900 GeneTree ENSGT00550000074384 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074384 HGNC HGNC:20566 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:20566 HOVERGEN HBG053967 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG053967&db=HOVERGEN HPA CAB002226 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB002226 HPA HPA007863 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA007863 InParanoid Q7L0J3 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q7L0J3 IntAct Q7L0J3 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q7L0J3* InterPro IPR001646 http://www.ebi.ac.uk/interpro/entry/IPR001646 InterPro IPR005828 http://www.ebi.ac.uk/interpro/entry/IPR005828 InterPro IPR005829 http://www.ebi.ac.uk/interpro/entry/IPR005829 InterPro IPR011701 http://www.ebi.ac.uk/interpro/entry/IPR011701 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 InterPro IPR022308 http://www.ebi.ac.uk/interpro/entry/IPR022308 Jabion 9900 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=9900 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Gene hsa:9900 http://www.genome.jp/dbget-bin/www_bget?hsa:9900 KEGG_Orthology KO:K06258 http://www.genome.jp/dbget-bin/www_bget?KO:K06258 KEGG_Pathway ko04512 http://www.genome.jp/kegg-bin/show_pathway?ko04512 MIM 185860 http://www.ncbi.nlm.nih.gov/omim/185860 MINT MINT-4722799 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-4722799 OMA MSCISCF http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=MSCISCF OrthoDB EOG091G02NC http://cegg.unige.ch/orthodb/results?searchtext=EOG091G02NC PDB 4V11 http://www.ebi.ac.uk/pdbe-srv/view/entry/4V11 PDBsum 4V11 http://www.ebi.ac.uk/pdbsum/4V11 PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PSORT swissprot:SV2A_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SV2A_HUMAN PSORT-B swissprot:SV2A_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SV2A_HUMAN PSORT2 swissprot:SV2A_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SV2A_HUMAN Pfam PF00083 http://pfam.xfam.org/family/PF00083 Pfam PF07690 http://pfam.xfam.org/family/PF07690 Pfam PF13599 http://pfam.xfam.org/family/PF13599 PharmGKB PA128394564 http://www.pharmgkb.org/do/serve?objId=PA128394564&objCls=Gene Phobius swissprot:SV2A_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SV2A_HUMAN PhylomeDB Q7L0J3 http://phylomedb.org/?seqid=Q7L0J3 ProteinModelPortal Q7L0J3 http://www.proteinmodelportal.org/query/uniprot/Q7L0J3 PubMed 15210974 http://www.ncbi.nlm.nih.gov/pubmed/15210974 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16303743 http://www.ncbi.nlm.nih.gov/pubmed/16303743 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 PubMed 19690332 http://www.ncbi.nlm.nih.gov/pubmed/19690332 PubMed 9872452 http://www.ncbi.nlm.nih.gov/pubmed/9872452 Reactome R-HSA-5250955 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5250955 Reactome R-HSA-5250968 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5250968 Reactome R-HSA-5250981 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5250981 Reactome R-HSA-5250992 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5250992 RefSeq NP_001265648 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001265648 RefSeq NP_001315603 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001315603 RefSeq NP_001315604 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001315604 RefSeq NP_055664 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_055664 SMR Q7L0J3 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q7L0J3 STRING 9606.ENSP00000358142 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000358142&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TIGRFAMs TIGR01299 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01299 UCSC uc001etg http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001etg&org=rat UniGene Hs.516153 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.516153 UniProtKB SV2A_HUMAN http://www.uniprot.org/uniprot/SV2A_HUMAN UniProtKB-AC Q7L0J3 http://www.uniprot.org/uniprot/Q7L0J3 charge swissprot:SV2A_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SV2A_HUMAN eggNOG ENOG410IRID http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IRID eggNOG ENOG410YQME http://eggnogapi.embl.de/nog_data/html/tree/ENOG410YQME epestfind swissprot:SV2A_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SV2A_HUMAN garnier swissprot:SV2A_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SV2A_HUMAN helixturnhelix swissprot:SV2A_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SV2A_HUMAN hmoment swissprot:SV2A_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SV2A_HUMAN iep swissprot:SV2A_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SV2A_HUMAN inforesidue swissprot:SV2A_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SV2A_HUMAN neXtProt NX_Q7L0J3 http://www.nextprot.org/db/entry/NX_Q7L0J3 octanol swissprot:SV2A_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SV2A_HUMAN pepcoil swissprot:SV2A_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SV2A_HUMAN pepdigest swissprot:SV2A_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SV2A_HUMAN pepinfo swissprot:SV2A_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SV2A_HUMAN pepnet swissprot:SV2A_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SV2A_HUMAN pepstats swissprot:SV2A_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SV2A_HUMAN pepwheel swissprot:SV2A_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SV2A_HUMAN pepwindow swissprot:SV2A_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SV2A_HUMAN sigcleave swissprot:SV2A_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SV2A_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS TRPV3_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q8NET8-1; Sequence=Displayed; Name=2; Synonyms=A; IsoId=Q8NET8-2; Sequence=VSP_013433; Name=3; Synonyms=B; IsoId=Q8NET8-3; Sequence=VSP_013434, VSP_013435; # AltName TRPV3_HUMAN Vanilloid receptor-like 3 # CCDS CCDS11029 -. [Q8NET8-1] # CCDS CCDS58500 -. [Q8NET8-2] # DISEASE TRPV3_HUMAN Olmsted syndrome (OLMS) [MIM 614594] A rare congenital disorder characterized by bilateral mutilating palmoplantar keratoderma and periorificial keratotic plaques with severe itching at all lesions. Diffuse alopecia, constriction of digits, and onychodystrophy have also been reported. Infections and squamous cell carcinomas can arise on the keratotic areas. The digital constriction may progress to autoamputation of fingers and toes. {ECO 0000269|PubMed 22405088, ECO 0000269|PubMed 22835024}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE TRPV3_HUMAN Palmoplantar keratoderma, non-epidermolytic, focal 2 (FNEPPK2) [MIM 616400] A dermatological disorder characterized by non-epidermolytic, abnormal thickening of the skin on the palms and soles. Focal palmoplantar keratoderma consists of localized areas of hyperkeratosis located mainly on pressure points and sites of recurrent friction. {ECO 0000269|PubMed 25285920}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DrugBank DB00825 Menthol # Ensembl ENST00000301365 ENSP00000301365; ENSG00000167723. [Q8NET8-2] # Ensembl ENST00000572519 ENSP00000460215; ENSG00000167723. [Q8NET8-3] # Ensembl ENST00000576742 ENSP00000461518; ENSG00000167723. [Q8NET8-1] # ExpressionAtlas Q8NET8 baseline and differential # FUNCTION TRPV3_HUMAN Putative receptor-activated non-selective calcium permeant cation channel. It is activated by innocuous (warm) temperatures and shows an increased response at noxious temperatures greater than 39 degrees Celsius. Activation exhibits an outward rectification. May associate with TRPV1 and may modulate its activity. Is a negative regulator of hair growth and cycling TRPV3-coupled signaling suppresses keratinocyte proliferation in hair follicles and induces apoptosis and premature hair follicle regression (catagen). {ECO 0000269|PubMed 12077604, ECO 0000269|PubMed 12077606, ECO 0000269|PubMed 21593771}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0043235 receptor complex; IDA:MGI. # GO_function GO:0005262 calcium channel activity; IBA:GO_Central. # GO_process GO:0009408 response to heat; IEA:Ensembl. # GO_process GO:0042636 negative regulation of hair cycle; IMP:UniProtKB. # GO_process GO:0070588 calcium ion transmembrane transport; TAS:Reactome. # GO_process GO:0090280 positive regulation of calcium ion import; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006950 response to stress # GOslim_process GO:0008150 biological_process # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.25.40.20 -; 1. # Genevisible Q8NET8 HS # HGNC HGNC:18084 TRPV3 # InterPro IPR002110 Ankyrin_rpt # InterPro IPR005821 Ion_trans_dom # InterPro IPR008347 TRPV1-4_channel # InterPro IPR020683 Ankyrin_rpt-contain_dom # InterPro IPR024866 TRPV3_channel # KEGG_Brite ko04040 Ion channels # MIM 607066 gene # MIM 614594 phenotype # MIM 616400 phenotype # Organism TRPV3_HUMAN Homo sapiens (Human) # Orphanet 659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques # PANTHER PTHR10582:SF6 PTHR10582:SF6 # PRINTS PR01768 TRPVRECEPTOR # PROSITE PS50088 ANK_REPEAT; 2 # PROSITE PS50297 ANK_REP_REGION # Pfam PF00520 Ion_trans # Pfam PF12796 Ank_2 # Proteomes UP000005640 Chromosome 17 # Reactome R-HSA-3295583 TRP channels # RecName TRPV3_HUMAN Transient receptor potential cation channel subfamily V member 3 # RefSeq NP_659505 NM_145068.3. [Q8NET8-1] # SIMILARITY Belongs to the transient receptor (TC 1.A.4) family. TrpV subfamily. TRPV3 sub-subfamily. {ECO 0000305}. # SIMILARITY Contains 3 ANK repeats. {ECO:0000255|PROSITE- ProRule PRU00023}. # SMART SM00248 ANK; 4 # SUBCELLULAR LOCATION TRPV3_HUMAN Membrane; Multi-pass membrane protein. # SUBUNIT May form a heteromeric channel with TRPV1. Interacts with TRPV1. {ECO:0000269|PubMed 12077606}. # SUPFAM SSF48403 SSF48403 # TCDB 1.A.4.2 the transient receptor potential ca(2+) channel (trp-cc) family # TISSUE SPECIFICITY TRPV3_HUMAN Abundantly expressed in CNS. Widely expressed at low levels. Detected in dorsal root ganglion (at protein level). Expressed in the keratinocyte layers of the outer root sheath and, to lesser extent, to the matrix of the hair follicles (at protein level). {ECO 0000269|PubMed 12077604, ECO 0000269|PubMed 12077606, ECO 0000269|PubMed 21593771}. # UCSC uc002fvr human. [Q8NET8-1] # WEB RESOURCE TRPV3_HUMAN Name=Transient receptor potential cation channel, subfamily V, member 3 (TRPV3); Note=Leiden Open Variation Database (LOVD); URL="http //grenada.lumc.nl/LOVD2/shared1/home.php?select_db=TRPV3"; # eggNOG ENOG4110DG4 LUCA # eggNOG KOG3676 Eukaryota BLAST swissprot:TRPV3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:TRPV3_HUMAN COXPRESdb 162514 http://coxpresdb.jp/data/gene/162514.shtml CleanEx HS_TRPV3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_TRPV3 DOI 10.1016/j.ajhg.2012.02.006 http://dx.doi.org/10.1016/j.ajhg.2012.02.006 DOI 10.1038/jid.2011.122 http://dx.doi.org/10.1038/jid.2011.122 DOI 10.1038/jid.2014.429 http://dx.doi.org/10.1038/jid.2014.429 DOI 10.1038/nature00882 http://dx.doi.org/10.1038/nature00882 DOI 10.1038/nature00894 http://dx.doi.org/10.1038/nature00894 DOI 10.1111/j.1365-2133.2012.11115.x http://dx.doi.org/10.1111/j.1365-2133.2012.11115.x DrugBank DB00825 http://www.drugbank.ca/drugs/DB00825 EMBL AF514998 http://www.ebi.ac.uk/ena/data/view/AF514998 EMBL AJ487035 http://www.ebi.ac.uk/ena/data/view/AJ487035 EMBL AY118267 http://www.ebi.ac.uk/ena/data/view/AY118267 EMBL AY118268 http://www.ebi.ac.uk/ena/data/view/AY118268 Ensembl ENST00000301365 http://www.ensembl.org/id/ENST00000301365 Ensembl ENST00000572519 http://www.ensembl.org/id/ENST00000572519 Ensembl ENST00000576742 http://www.ensembl.org/id/ENST00000576742 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0043235 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043235 GO_function GO:0005262 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005262 GO_process GO:0009408 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009408 GO_process GO:0042636 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042636 GO_process GO:0070588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070588 GO_process GO:0090280 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090280 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.25.40.20 http://www.cathdb.info/version/latest/superfamily/1.25.40.20 GeneCards TRPV3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=TRPV3 GeneID 162514 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=162514 GeneTree ENSGT00550000074425 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074425 H-InvDB HIX0013427 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0013427 HGNC HGNC:18084 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:18084 HOGENOM HOG000234630 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000234630&db=HOGENOM6 HOVERGEN HBG054085 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG054085&db=HOVERGEN InParanoid Q8NET8 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8NET8 InterPro IPR002110 http://www.ebi.ac.uk/interpro/entry/IPR002110 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR008347 http://www.ebi.ac.uk/interpro/entry/IPR008347 InterPro IPR020683 http://www.ebi.ac.uk/interpro/entry/IPR020683 InterPro IPR024866 http://www.ebi.ac.uk/interpro/entry/IPR024866 Jabion 162514 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=162514 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:162514 http://www.genome.jp/dbget-bin/www_bget?hsa:162514 KEGG_Orthology KO:K04972 http://www.genome.jp/dbget-bin/www_bget?KO:K04972 MIM 607066 http://www.ncbi.nlm.nih.gov/omim/607066 MIM 614594 http://www.ncbi.nlm.nih.gov/omim/614594 MIM 616400 http://www.ncbi.nlm.nih.gov/omim/616400 OMA FVKRMYD http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=FVKRMYD Orphanet 659 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=659 OrthoDB EOG091G020O http://cegg.unige.ch/orthodb/results?searchtext=EOG091G020O PANTHER PTHR10582:SF6 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10582:SF6 PRINTS PR01768 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01768 PROSITE PS50088 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50088 PROSITE PS50297 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50297 PSORT swissprot:TRPV3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:TRPV3_HUMAN PSORT-B swissprot:TRPV3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:TRPV3_HUMAN PSORT2 swissprot:TRPV3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:TRPV3_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF12796 http://pfam.xfam.org/family/PF12796 PharmGKB PA38481 http://www.pharmgkb.org/do/serve?objId=PA38481&objCls=Gene Phobius swissprot:TRPV3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:TRPV3_HUMAN PhylomeDB Q8NET8 http://phylomedb.org/?seqid=Q8NET8 ProteinModelPortal Q8NET8 http://www.proteinmodelportal.org/query/uniprot/Q8NET8 PubMed 12077604 http://www.ncbi.nlm.nih.gov/pubmed/12077604 PubMed 12077606 http://www.ncbi.nlm.nih.gov/pubmed/12077606 PubMed 21593771 http://www.ncbi.nlm.nih.gov/pubmed/21593771 PubMed 22405088 http://www.ncbi.nlm.nih.gov/pubmed/22405088 PubMed 22835024 http://www.ncbi.nlm.nih.gov/pubmed/22835024 PubMed 25285920 http://www.ncbi.nlm.nih.gov/pubmed/25285920 Reactome R-HSA-3295583 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-3295583 RefSeq NP_659505 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_659505 SMART SM00248 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00248 STRING 9606.ENSP00000461518 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000461518&targetmode=cogs SUPFAM SSF48403 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48403 TCDB 1.A.4.2 http://www.tcdb.org/search/result.php?tc=1.A.4.2 UCSC uc002fvr http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002fvr&org=rat UniGene Hs.446255 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.446255 UniProtKB TRPV3_HUMAN http://www.uniprot.org/uniprot/TRPV3_HUMAN UniProtKB-AC Q8NET8 http://www.uniprot.org/uniprot/Q8NET8 charge swissprot:TRPV3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:TRPV3_HUMAN eggNOG ENOG4110DG4 http://eggnogapi.embl.de/nog_data/html/tree/ENOG4110DG4 eggNOG KOG3676 http://eggnogapi.embl.de/nog_data/html/tree/KOG3676 epestfind swissprot:TRPV3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:TRPV3_HUMAN garnier swissprot:TRPV3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:TRPV3_HUMAN helixturnhelix swissprot:TRPV3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:TRPV3_HUMAN hmoment swissprot:TRPV3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:TRPV3_HUMAN iep swissprot:TRPV3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:TRPV3_HUMAN inforesidue swissprot:TRPV3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:TRPV3_HUMAN neXtProt NX_Q8NET8 http://www.nextprot.org/db/entry/NX_Q8NET8 octanol swissprot:TRPV3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:TRPV3_HUMAN pepcoil swissprot:TRPV3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:TRPV3_HUMAN pepdigest swissprot:TRPV3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:TRPV3_HUMAN pepinfo swissprot:TRPV3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:TRPV3_HUMAN pepnet swissprot:TRPV3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:TRPV3_HUMAN pepstats swissprot:TRPV3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:TRPV3_HUMAN pepwheel swissprot:TRPV3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:TRPV3_HUMAN pepwindow swissprot:TRPV3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:TRPV3_HUMAN sigcleave swissprot:TRPV3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:TRPV3_HUMAN ## Database ID URL or Descriptions # AltName CTR4_HUMAN Solute carrier family 7 member 4 # DrugBank DB00123 L-Lysine # DrugBank DB00125 L-Arginine # DrugBank DB00129 L-Ornithine # Ensembl ENST00000382932 ENSP00000372390; ENSG00000099960 # Ensembl ENST00000403586 ENSP00000384278; ENSG00000099960 # ExpressionAtlas O43246 baseline and differential # FUNCTION CTR4_HUMAN Involved in the transport of the cationic amino acids (arginine, lysine and ornithine). # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0016021 integral component of membrane; TAS:ProtInc. # GO_function GO:0015174 basic amino acid transmembrane transporter activity; TAS:ProtInc. # GO_function GO:0015179 L-amino acid transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015297 antiporter activity; IBA:GO_Central. # GO_process GO:0006520 cellular amino acid metabolic process; TAS:ProtInc. # GO_process GO:0006810 transport; TAS:ProtInc. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006520 cellular amino acid metabolic process # GOslim_process GO:0006810 transport # Genevisible O43246 HS # HGNC HGNC:11062 SLC7A4 # InterPro IPR002293 AA/rel_permease1 # InterPro IPR029485 CAT_C # KEGG_Brite ko02001 Solute carrier family # MIM 603752 gene # Organism CTR4_HUMAN Homo sapiens (Human) # PANTHER PTHR11785 PTHR11785; 3 # Pfam PF13520 AA_permease_2 # Pfam PF13906 AA_permease_C # Proteomes UP000005640 Chromosome 22 # RecName CTR4_HUMAN Cationic amino acid transporter 4 # RefSeq NP_004164 NM_004173.2 # SIMILARITY Belongs to the amino acid-polyamine-organocation (APC) superfamily. Cationic amino acid transporter (CAT) (TC 2.A.3.3) family. {ECO 0000305}. # SUBCELLULAR LOCATION CTR4_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # TCDB 2.A.3.3 the amino acid-polyamine-organocation (apc) family # UCSC uc002zud human # eggNOG COG0531 LUCA # eggNOG KOG1286 Eukaryota BLAST swissprot:CTR4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CTR4_HUMAN BioCyc ZFISH:ENSG00000099960-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000099960-MONOMER COXPRESdb 6545 http://coxpresdb.jp/data/gene/6545.shtml CleanEx HS_SLC7A4 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC7A4 DOI 10.1006/geno.1998.5252 http://dx.doi.org/10.1006/geno.1998.5252 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/gb-2004-5-10-r84 http://dx.doi.org/10.1186/gb-2004-5-10-r84 DrugBank DB00123 http://www.drugbank.ca/drugs/DB00123 DrugBank DB00125 http://www.drugbank.ca/drugs/DB00125 DrugBank DB00129 http://www.drugbank.ca/drugs/DB00129 EMBL AJ000730 http://www.ebi.ac.uk/ena/data/view/AJ000730 EMBL BC008814 http://www.ebi.ac.uk/ena/data/view/BC008814 EMBL BC062565 http://www.ebi.ac.uk/ena/data/view/BC062565 EMBL BC107160 http://www.ebi.ac.uk/ena/data/view/BC107160 EMBL BC107161 http://www.ebi.ac.uk/ena/data/view/BC107161 EMBL CR456580 http://www.ebi.ac.uk/ena/data/view/CR456580 Ensembl ENST00000382932 http://www.ensembl.org/id/ENST00000382932 Ensembl ENST00000403586 http://www.ensembl.org/id/ENST00000403586 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0015174 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015174 GO_function GO:0015179 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015179 GO_function GO:0015297 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015297 GO_process GO:0006520 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006520 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006520 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006520 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GeneCards SLC7A4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC7A4 GeneID 6545 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6545 GeneTree ENSGT00760000119151 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119151 HGNC HGNC:11062 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11062 HOGENOM HOG000250623 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000250623&db=HOGENOM6 HOVERGEN HBG000280 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG000280&db=HOVERGEN HPA HPA031023 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA031023 InParanoid O43246 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O43246 InterPro IPR002293 http://www.ebi.ac.uk/interpro/entry/IPR002293 InterPro IPR029485 http://www.ebi.ac.uk/interpro/entry/IPR029485 Jabion 6545 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6545 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:6545 http://www.genome.jp/dbget-bin/www_bget?hsa:6545 KEGG_Orthology KO:K13866 http://www.genome.jp/dbget-bin/www_bget?KO:K13866 MIM 603752 http://www.ncbi.nlm.nih.gov/omim/603752 MINT MINT-2999274 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-2999274 OMA QDPGHME http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=QDPGHME OrthoDB EOG091G05NM http://cegg.unige.ch/orthodb/results?searchtext=EOG091G05NM PANTHER PTHR11785 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11785 PSORT swissprot:CTR4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CTR4_HUMAN PSORT-B swissprot:CTR4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CTR4_HUMAN PSORT2 swissprot:CTR4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CTR4_HUMAN Pfam PF13520 http://pfam.xfam.org/family/PF13520 Pfam PF13906 http://pfam.xfam.org/family/PF13906 PharmGKB PA35922 http://www.pharmgkb.org/do/serve?objId=PA35922&objCls=Gene Phobius swissprot:CTR4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CTR4_HUMAN PhylomeDB O43246 http://phylomedb.org/?seqid=O43246 ProteinModelPortal O43246 http://www.proteinmodelportal.org/query/uniprot/O43246 PubMed 15461802 http://www.ncbi.nlm.nih.gov/pubmed/15461802 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 9598310 http://www.ncbi.nlm.nih.gov/pubmed/9598310 RefSeq NP_004164 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004164 STRING 9606.ENSP00000372390 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000372390&targetmode=cogs TCDB 2.A.3.3 http://www.tcdb.org/search/result.php?tc=2.A.3.3 UCSC uc002zud http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002zud&org=rat UniGene Hs.197116 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.197116 UniProtKB CTR4_HUMAN http://www.uniprot.org/uniprot/CTR4_HUMAN UniProtKB-AC O43246 http://www.uniprot.org/uniprot/O43246 charge swissprot:CTR4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CTR4_HUMAN eggNOG COG0531 http://eggnogapi.embl.de/nog_data/html/tree/COG0531 eggNOG KOG1286 http://eggnogapi.embl.de/nog_data/html/tree/KOG1286 epestfind swissprot:CTR4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CTR4_HUMAN garnier swissprot:CTR4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CTR4_HUMAN helixturnhelix swissprot:CTR4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CTR4_HUMAN hmoment swissprot:CTR4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CTR4_HUMAN iep swissprot:CTR4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CTR4_HUMAN inforesidue swissprot:CTR4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CTR4_HUMAN neXtProt NX_O43246 http://www.nextprot.org/db/entry/NX_O43246 octanol swissprot:CTR4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CTR4_HUMAN pepcoil swissprot:CTR4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CTR4_HUMAN pepdigest swissprot:CTR4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CTR4_HUMAN pepinfo swissprot:CTR4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CTR4_HUMAN pepnet swissprot:CTR4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CTR4_HUMAN pepstats swissprot:CTR4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CTR4_HUMAN pepwheel swissprot:CTR4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CTR4_HUMAN pepwindow swissprot:CTR4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CTR4_HUMAN sigcleave swissprot:CTR4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CTR4_HUMAN ## Database ID URL or Descriptions # AltName NMDE4_HUMAN EB11 # AltName NMDE4_HUMAN Glutamate [NMDA] receptor subunit epsilon-4 # AltName NMDE4_HUMAN N-methyl D-aspartate receptor subtype 2D # BioGrid 109163 3 # DrugBank DB00289 Atomoxetine # DrugBank DB00312 Pentobarbital # DrugBank DB00418 Secobarbital # DrugBank DB00454 Pethidine # DrugBank DB00659 Acamprosate # DrugBank DB00996 Gabapentin # DrugBank DB01173 Orphenadrine # DrugBank DB01174 Phenobarbital # DrugBank DB04896 Milnacipran # DrugBank DB06151 Acetylcysteine # DrugBank DB06738 Ketobemidone # Ensembl ENST00000263269 ENSP00000263269; ENSG00000105464 # FUNCTION NMDE4_HUMAN NMDA receptor subtype of glutamate-gated ion channels with high calcium permeability and voltage-dependent sensitivity to magnesium. Mediated by glycine. # GO_component GO:0005622 intracellular; IEA:GOC. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0017146 NMDA selective glutamate receptor complex; IBA:GO_Central. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0045211 postsynaptic membrane; IEA:UniProtKB-SubCell. # GO_function GO:0004972 NMDA glutamate receptor activity; IBA:GO_Central. # GO_function GO:0005088 Ras guanyl-nucleotide exchange factor activity; TAS:Reactome. # GO_function GO:0005234 extracellular-glutamate-gated ion channel activity; IEA:InterPro. # GO_process GO:0000165 MAPK cascade; TAS:Reactome. # GO_process GO:0001964 startle response; IEA:Ensembl. # GO_process GO:0007165 signal transduction; NAS:ProtInc. # GO_process GO:0007268 chemical synaptic transmission; TAS:Reactome. # GO_process GO:0008344 adult locomotory behavior; IEA:Ensembl. # GO_process GO:0051930 regulation of sensory perception of pain; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005622 intracellular # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006464 cellular protein modification process # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # GOslim_process GO:0050877 neurological system process # Genevisible O15399 HS # HGNC HGNC:4588 GRIN2D # INTERACTION NMDE4_HUMAN Q62936 Dlg3 (xeno); NbExp=2; IntAct=EBI-1754030, EBI-349596; # IntAct O15399 4 # InterPro IPR001320 Iontro_rcpt # InterPro IPR001508 Iono_rcpt_met # InterPro IPR001828 ANF_lig-bd_rcpt # InterPro IPR019594 Glu/Gly-bd # InterPro IPR028082 Peripla_BP_I # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04020 Calcium signaling pathway # KEGG_Pathway ko04080 Neuroactive ligand-receptor interaction # KEGG_Pathway ko04713 Circadian entrainment # KEGG_Pathway ko04720 Long-term potentiation # KEGG_Pathway ko04724 Glutamatergic synapse # KEGG_Pathway ko05010 Alzheimer's disease # KEGG_Pathway ko05014 Amyotrophic lateral sclerosis (ALS) # KEGG_Pathway ko05030 Cocaine addiction # KEGG_Pathway ko05031 Amphetamine addiction # KEGG_Pathway ko05033 Nicotine addiction # KEGG_Pathway ko05034 Alcoholism # MIM 602717 gene # Organism NMDE4_HUMAN Homo sapiens (Human) # PRINTS PR00177 NMDARECEPTOR # Pfam PF00060 Lig_chan # Pfam PF01094 ANF_receptor # Pfam PF10613 Lig_chan-Glu_bd # Proteomes UP000005640 Chromosome 19 # Reactome R-HSA-438066 Unblocking of NMDA receptor, glutamate binding and activation # Reactome R-HSA-442729 CREB phosphorylation through the activation of CaMKII # Reactome R-HSA-442982 Ras activation uopn Ca2+ infux through NMDA receptor # Reactome R-HSA-5673001 RAF/MAP kinase cascade # Reactome R-HSA-6794361 Interactions of neurexins and neuroligins at synapses # Reactome R-HSA-8849932 SALM protein interactions at the synapses # RecName NMDE4_HUMAN Glutamate receptor ionotropic, NMDA 2D # RefSeq NP_000827 NM_000836.2 # RefSeq XP_011525174 XM_011526872.1 # SIMILARITY Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. NR2D/GRIN2D subfamily. {ECO 0000305}. # SMART SM00079 PBPe # SMART SM00918 Lig_chan-Glu_bd # SUBCELLULAR LOCATION NMDE4_HUMAN Cell membrane; Multi-pass membrane protein. Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. # SUBUNIT Interacts with PDZ domains of PATJ and DLG4 (By similarity). Forms heteromeric channel of a zeta subunit (GRIN1), a epsilon subunit (GRIN2A, GRIN2B, GRIN2C or GRIN2D) and a third subunit (GRIN3A or GRIN3B). {ECO 0000250}. # SUPFAM SSF53822 SSF53822 # UCSC uc002pjc human # eggNOG ENOG410XNUR LUCA # eggNOG KOG1053 Eukaryota BLAST swissprot:NMDE4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:NMDE4_HUMAN BioCyc ZFISH:ENSG00000105464-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000105464-MONOMER COXPRESdb 2906 http://coxpresdb.jp/data/gene/2906.shtml CleanEx HS_GRIN2D http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_GRIN2D DOI 10.1038/nature02399 http://dx.doi.org/10.1038/nature02399 DOI 10.1126/science.1133427 http://dx.doi.org/10.1126/science.1133427 DrugBank DB00289 http://www.drugbank.ca/drugs/DB00289 DrugBank DB00312 http://www.drugbank.ca/drugs/DB00312 DrugBank DB00418 http://www.drugbank.ca/drugs/DB00418 DrugBank DB00454 http://www.drugbank.ca/drugs/DB00454 DrugBank DB00659 http://www.drugbank.ca/drugs/DB00659 DrugBank DB00996 http://www.drugbank.ca/drugs/DB00996 DrugBank DB01173 http://www.drugbank.ca/drugs/DB01173 DrugBank DB01174 http://www.drugbank.ca/drugs/DB01174 DrugBank DB04896 http://www.drugbank.ca/drugs/DB04896 DrugBank DB06151 http://www.drugbank.ca/drugs/DB06151 DrugBank DB06738 http://www.drugbank.ca/drugs/DB06738 EMBL AC008403 http://www.ebi.ac.uk/ena/data/view/AC008403 EMBL AC011527 http://www.ebi.ac.uk/ena/data/view/AC011527 EMBL U77783 http://www.ebi.ac.uk/ena/data/view/U77783 Ensembl ENST00000263269 http://www.ensembl.org/id/ENST00000263269 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005622 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005622 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0017146 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0017146 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0045211 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045211 GO_function GO:0004972 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004972 GO_function GO:0005088 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005088 GO_function GO:0005234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005234 GO_process GO:0000165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000165 GO_process GO:0001964 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001964 GO_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GO_process GO:0007268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007268 GO_process GO:0008344 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008344 GO_process GO:0051930 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051930 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005622 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005622 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006464 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006464 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GeneCards GRIN2D http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=GRIN2D GeneID 2906 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=2906 GeneTree ENSGT00760000119186 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119186 H-InvDB HIX0040164 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0040164 HGNC HGNC:4588 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:4588 HOGENOM HOG000113803 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000113803&db=HOGENOM6 HOVERGEN HBG052637 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052637&db=HOVERGEN InParanoid O15399 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O15399 IntAct O15399 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O15399* InterPro IPR001320 http://www.ebi.ac.uk/interpro/entry/IPR001320 InterPro IPR001508 http://www.ebi.ac.uk/interpro/entry/IPR001508 InterPro IPR001828 http://www.ebi.ac.uk/interpro/entry/IPR001828 InterPro IPR019594 http://www.ebi.ac.uk/interpro/entry/IPR019594 InterPro IPR028082 http://www.ebi.ac.uk/interpro/entry/IPR028082 Jabion 2906 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=2906 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:2906 http://www.genome.jp/dbget-bin/www_bget?hsa:2906 KEGG_Orthology KO:K05212 http://www.genome.jp/dbget-bin/www_bget?KO:K05212 KEGG_Pathway ko04020 http://www.genome.jp/kegg-bin/show_pathway?ko04020 KEGG_Pathway ko04080 http://www.genome.jp/kegg-bin/show_pathway?ko04080 KEGG_Pathway ko04713 http://www.genome.jp/kegg-bin/show_pathway?ko04713 KEGG_Pathway ko04720 http://www.genome.jp/kegg-bin/show_pathway?ko04720 KEGG_Pathway ko04724 http://www.genome.jp/kegg-bin/show_pathway?ko04724 KEGG_Pathway ko05010 http://www.genome.jp/kegg-bin/show_pathway?ko05010 KEGG_Pathway ko05014 http://www.genome.jp/kegg-bin/show_pathway?ko05014 KEGG_Pathway ko05030 http://www.genome.jp/kegg-bin/show_pathway?ko05030 KEGG_Pathway ko05031 http://www.genome.jp/kegg-bin/show_pathway?ko05031 KEGG_Pathway ko05033 http://www.genome.jp/kegg-bin/show_pathway?ko05033 KEGG_Pathway ko05034 http://www.genome.jp/kegg-bin/show_pathway?ko05034 MIM 602717 http://www.ncbi.nlm.nih.gov/omim/602717 MINT MINT-130143 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-130143 OMA WDYLPPR http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=WDYLPPR OrthoDB EOG091G09KH http://cegg.unige.ch/orthodb/results?searchtext=EOG091G09KH PRINTS PR00177 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00177 PSORT swissprot:NMDE4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:NMDE4_HUMAN PSORT-B swissprot:NMDE4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:NMDE4_HUMAN PSORT2 swissprot:NMDE4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:NMDE4_HUMAN Pfam PF00060 http://pfam.xfam.org/family/PF00060 Pfam PF01094 http://pfam.xfam.org/family/PF01094 Pfam PF10613 http://pfam.xfam.org/family/PF10613 PharmGKB PA28982 http://www.pharmgkb.org/do/serve?objId=PA28982&objCls=Gene Phobius swissprot:NMDE4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:NMDE4_HUMAN PhylomeDB O15399 http://phylomedb.org/?seqid=O15399 ProteinModelPortal O15399 http://www.proteinmodelportal.org/query/uniprot/O15399 PubMed 15057824 http://www.ncbi.nlm.nih.gov/pubmed/15057824 PubMed 16959974 http://www.ncbi.nlm.nih.gov/pubmed/16959974 PubMed 9489750 http://www.ncbi.nlm.nih.gov/pubmed/9489750 Reactome R-HSA-438066 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-438066 Reactome R-HSA-442729 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-442729 Reactome R-HSA-442982 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-442982 Reactome R-HSA-5673001 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5673001 Reactome R-HSA-6794361 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6794361 Reactome R-HSA-8849932 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-8849932 RefSeq NP_000827 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000827 RefSeq XP_011525174 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011525174 SMART SM00079 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00079 SMART SM00918 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00918 STRING 9606.ENSP00000263269 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000263269&targetmode=cogs SUPFAM SSF53822 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF53822 UCSC uc002pjc http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002pjc&org=rat UniGene Hs.445015 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.445015 UniProtKB NMDE4_HUMAN http://www.uniprot.org/uniprot/NMDE4_HUMAN UniProtKB-AC O15399 http://www.uniprot.org/uniprot/O15399 charge swissprot:NMDE4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:NMDE4_HUMAN eggNOG ENOG410XNUR http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XNUR eggNOG KOG1053 http://eggnogapi.embl.de/nog_data/html/tree/KOG1053 epestfind swissprot:NMDE4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:NMDE4_HUMAN garnier swissprot:NMDE4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:NMDE4_HUMAN helixturnhelix swissprot:NMDE4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:NMDE4_HUMAN hmoment swissprot:NMDE4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:NMDE4_HUMAN iep swissprot:NMDE4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:NMDE4_HUMAN inforesidue swissprot:NMDE4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:NMDE4_HUMAN neXtProt NX_O15399 http://www.nextprot.org/db/entry/NX_O15399 octanol swissprot:NMDE4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:NMDE4_HUMAN pepcoil swissprot:NMDE4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:NMDE4_HUMAN pepdigest swissprot:NMDE4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:NMDE4_HUMAN pepinfo swissprot:NMDE4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:NMDE4_HUMAN pepnet swissprot:NMDE4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:NMDE4_HUMAN pepstats swissprot:NMDE4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:NMDE4_HUMAN pepwheel swissprot:NMDE4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:NMDE4_HUMAN pepwindow swissprot:NMDE4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:NMDE4_HUMAN sigcleave swissprot:NMDE4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:NMDE4_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS ACHB4_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P30926-1; Sequence=Displayed; Name=2; IsoId=P30926-2; Sequence=VSP_046674, VSP_046675; # CCDS CCDS10306 -. [P30926-1] # CCDS CCDS58392 -. [P30926-2] # DrugBank DB00184 Nicotine # DrugBank DB00514 Dextromethorphan # DrugBank DB00674 Galantamine # DrugBank DB00898 Ethanol # DrugBank DB01090 Pentolinium # DrugBank DB01227 Levomethadyl Acetate # Ensembl ENST00000261751 ENSP00000261751; ENSG00000117971. [P30926-1] # Ensembl ENST00000412074 ENSP00000416386; ENSG00000117971. [P30926-2] # ExpressionAtlas P30926 baseline and differential # FUNCTION ACHB4_HUMAN After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IC:UniProtKB. # GO_component GO:0005892 acetylcholine-gated channel complex; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; NAS:UniProtKB. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0043005 neuron projection; IEA:Ensembl. # GO_component GO:0045211 postsynaptic membrane; IEA:UniProtKB-SubCell. # GO_function GO:0004889 acetylcholine-activated cation-selective channel activity; TAS:UniProtKB. # GO_function GO:0008144 drug binding; IEA:Ensembl. # GO_function GO:0015276 ligand-gated ion channel activity; TAS:DFLAT. # GO_function GO:0015464 acetylcholine receptor activity; IDA:UniProtKB. # GO_function GO:0042166 acetylcholine binding; IEA:Ensembl. # GO_process GO:0001508 action potential; IEA:Ensembl. # GO_process GO:0006811 ion transport; TAS:UniProtKB. # GO_process GO:0006939 smooth muscle contraction; IEA:Ensembl. # GO_process GO:0006940 regulation of smooth muscle contraction; IEA:Ensembl. # GO_process GO:0007165 signal transduction; IDA:UniProtKB. # GO_process GO:0007271 synaptic transmission, cholinergic; TAS:ProtInc. # GO_process GO:0007626 locomotory behavior; IEA:Ensembl. # GO_process GO:0035094 response to nicotine; IBA:GO_Central. # GO_process GO:0035095 behavioral response to nicotine; IEA:Ensembl. # GO_process GO:0046928 regulation of neurotransmitter secretion; NAS:UniProtKB. # GO_process GO:0051291 protein heterooligomerization; IEA:Ensembl. # GO_process GO:0051971 positive regulation of transmission of nerve impulse; IEA:Ensembl. # GO_process GO:0060084 synaptic transmission involved in micturition; IMP:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # Gene3D 1.20.120.370 -; 2. # Gene3D 2.70.170.10 -; 1. # Genevisible P30926 HS # HGNC HGNC:1964 CHRNB4 # InterPro IPR002394 Nicotinic_acetylcholine_rcpt # InterPro IPR006029 Neurotrans-gated_channel_TM # InterPro IPR006201 Neur_channel # InterPro IPR006202 Neur_chan_lig-bd # InterPro IPR018000 Neurotransmitter_ion_chnl_CS # InterPro IPR027361 Acetylcholine_rcpt_TM # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04080 Neuroactive ligand-receptor interaction # KEGG_Pathway ko04725 Cholinergic synapse # MIM 118509 gene # Organism ACHB4_HUMAN Homo sapiens (Human) # PANTHER PTHR18945 PTHR18945; 2 # PDB 2ASG Model; -; B/D/E=262-284 # PIR G02421 G02421 # PRINTS PR00252 NRIONCHANNEL # PRINTS PR00254 NICOTINICR # PROSITE PS00236 NEUROTR_ION_CHANNEL # Pfam PF02931 Neur_chan_LBD # Pfam PF02932 Neur_chan_memb # Proteomes UP000005640 Chromosome 15 # Reactome R-HSA-629587 Highly sodium permeable acetylcholine nicotinic receptors # Reactome R-HSA-629594 Highly calcium permeable postsynaptic nicotinic acetylcholine receptors # Reactome R-HSA-629597 Highly calcium permeable nicotinic acetylcholine receptors # Reactome R-HSA-6798695 Neutrophil degranulation # RecName ACHB4_HUMAN Neuronal acetylcholine receptor subunit beta-4 # RefSeq NP_000741 NM_000750.3. [P30926-1] # RefSeq NP_001243496 NM_001256567.1. [P30926-2] # SIMILARITY Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Beta- 4/CHRNB4 sub-subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION ACHB4_HUMAN Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. # SUBUNIT Neuronal AChR is composed of two different types of subunits: alpha and beta. Beta-4 subunit can be combined to alpha- 2, alpha-3 or alpha-4 to give rise to functional receptors. Interacts with RIC3; which is required for proper folding and assembly. {ECO 0000269|PubMed:16120769}. # SUPFAM SSF63712 SSF63712 # SUPFAM SSF90112 SSF90112 # TIGRFAMs TIGR00860 LIC # UCSC uc002bed human. [P30926-1] # eggNOG ENOG410XQGR LUCA # eggNOG KOG3645 Eukaryota BLAST swissprot:ACHB4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ACHB4_HUMAN BioCyc ZFISH:ENSG00000117971-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000117971-MONOMER COXPRESdb 1143 http://coxpresdb.jp/data/gene/1143.shtml CleanEx HS_CHRNB4 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CHRNB4 DOI 10.1007/BF02736842 http://dx.doi.org/10.1007/BF02736842 DOI 10.1007/s100380170054 http://dx.doi.org/10.1007/s100380170054 DOI 10.1016/0014-5793(92)81411-E http://dx.doi.org/10.1016/0014-5793(92)81411-E DOI 10.1016/S0014-5793(96)01383-X http://dx.doi.org/10.1016/S0014-5793(96)01383-X DOI 10.1038/nature04601 http://dx.doi.org/10.1038/nature04601 DOI 10.1074/jbc.M110454200 http://dx.doi.org/10.1074/jbc.M110454200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1124/mol.105.017459 http://dx.doi.org/10.1124/mol.105.017459 DrugBank DB00184 http://www.drugbank.ca/drugs/DB00184 DrugBank DB00514 http://www.drugbank.ca/drugs/DB00514 DrugBank DB00674 http://www.drugbank.ca/drugs/DB00674 DrugBank DB00898 http://www.drugbank.ca/drugs/DB00898 DrugBank DB01090 http://www.drugbank.ca/drugs/DB01090 DrugBank DB01227 http://www.drugbank.ca/drugs/DB01227 EMBL AC022748 http://www.ebi.ac.uk/ena/data/view/AC022748 EMBL AC067863 http://www.ebi.ac.uk/ena/data/view/AC067863 EMBL AF306325 http://www.ebi.ac.uk/ena/data/view/AF306325 EMBL AF306326 http://www.ebi.ac.uk/ena/data/view/AF306326 EMBL AF306327 http://www.ebi.ac.uk/ena/data/view/AF306327 EMBL AF306328 http://www.ebi.ac.uk/ena/data/view/AF306328 EMBL AF306329 http://www.ebi.ac.uk/ena/data/view/AF306329 EMBL AF453877 http://www.ebi.ac.uk/ena/data/view/AF453877 EMBL AJ306454 http://www.ebi.ac.uk/ena/data/view/AJ306454 EMBL AJ306455 http://www.ebi.ac.uk/ena/data/view/AJ306455 EMBL AJ306456 http://www.ebi.ac.uk/ena/data/view/AJ306456 EMBL AJ306457 http://www.ebi.ac.uk/ena/data/view/AJ306457 EMBL AJ306458 http://www.ebi.ac.uk/ena/data/view/AJ306458 EMBL AJ306459 http://www.ebi.ac.uk/ena/data/view/AJ306459 EMBL BC096080 http://www.ebi.ac.uk/ena/data/view/BC096080 EMBL BC096081 http://www.ebi.ac.uk/ena/data/view/BC096081 EMBL BC096082 http://www.ebi.ac.uk/ena/data/view/BC096082 EMBL BC096083 http://www.ebi.ac.uk/ena/data/view/BC096083 EMBL U48861 http://www.ebi.ac.uk/ena/data/view/U48861 EMBL U62439 http://www.ebi.ac.uk/ena/data/view/U62439 EMBL X68275 http://www.ebi.ac.uk/ena/data/view/X68275 EMBL Y08416 http://www.ebi.ac.uk/ena/data/view/Y08416 Ensembl ENST00000261751 http://www.ensembl.org/id/ENST00000261751 Ensembl ENST00000412074 http://www.ensembl.org/id/ENST00000412074 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0005892 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005892 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0043005 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043005 GO_component GO:0045211 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045211 GO_function GO:0004889 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004889 GO_function GO:0008144 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008144 GO_function GO:0015276 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015276 GO_function GO:0015464 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015464 GO_function GO:0042166 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042166 GO_process GO:0001508 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001508 GO_process GO:0006811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006811 GO_process GO:0006939 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006939 GO_process GO:0006940 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006940 GO_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GO_process GO:0007271 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007271 GO_process GO:0007626 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007626 GO_process GO:0035094 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035094 GO_process GO:0035095 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035095 GO_process GO:0046928 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046928 GO_process GO:0051291 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051291 GO_process GO:0051971 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051971 GO_process GO:0060084 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060084 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 Gene3D 1.20.120.370 http://www.cathdb.info/version/latest/superfamily/1.20.120.370 Gene3D 2.70.170.10 http://www.cathdb.info/version/latest/superfamily/2.70.170.10 GeneCards CHRNB4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CHRNB4 GeneID 1143 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=1143 GeneTree ENSGT00760000118930 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118930 HGNC HGNC:1964 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:1964 HOGENOM HOG000006757 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000006757&db=HOGENOM6 HOVERGEN HBG003756 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG003756&db=HOVERGEN HPA CAB000109 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB000109 InParanoid P30926 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P30926 IntAct P30926 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P30926* InterPro IPR002394 http://www.ebi.ac.uk/interpro/entry/IPR002394 InterPro IPR006029 http://www.ebi.ac.uk/interpro/entry/IPR006029 InterPro IPR006201 http://www.ebi.ac.uk/interpro/entry/IPR006201 InterPro IPR006202 http://www.ebi.ac.uk/interpro/entry/IPR006202 InterPro IPR018000 http://www.ebi.ac.uk/interpro/entry/IPR018000 InterPro IPR027361 http://www.ebi.ac.uk/interpro/entry/IPR027361 Jabion 1143 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=1143 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:1143 http://www.genome.jp/dbget-bin/www_bget?hsa:1143 KEGG_Orthology KO:K04815 http://www.genome.jp/dbget-bin/www_bget?KO:K04815 KEGG_Pathway ko04080 http://www.genome.jp/kegg-bin/show_pathway?ko04080 KEGG_Pathway ko04725 http://www.genome.jp/kegg-bin/show_pathway?ko04725 MIM 118509 http://www.ncbi.nlm.nih.gov/omim/118509 OMA FMKRPGP http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=FMKRPGP OrthoDB EOG091G0R20 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0R20 PANTHER PTHR18945 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR18945 PDB 2ASG http://www.ebi.ac.uk/pdbe-srv/view/entry/2ASG PDBsum 2ASG http://www.ebi.ac.uk/pdbsum/2ASG PRINTS PR00252 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00252 PRINTS PR00254 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00254 PROSITE PS00236 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00236 PSORT swissprot:ACHB4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ACHB4_HUMAN PSORT-B swissprot:ACHB4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ACHB4_HUMAN PSORT2 swissprot:ACHB4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ACHB4_HUMAN Pfam PF02931 http://pfam.xfam.org/family/PF02931 Pfam PF02932 http://pfam.xfam.org/family/PF02932 PharmGKB PA26496 http://www.pharmgkb.org/do/serve?objId=PA26496&objCls=Gene Phobius swissprot:ACHB4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ACHB4_HUMAN PhylomeDB P30926 http://phylomedb.org/?seqid=P30926 ProteinModelPortal P30926 http://www.proteinmodelportal.org/query/uniprot/P30926 PubMed 11450844 http://www.ncbi.nlm.nih.gov/pubmed/11450844 PubMed 11742001 http://www.ncbi.nlm.nih.gov/pubmed/11742001 PubMed 1330682 http://www.ncbi.nlm.nih.gov/pubmed/1330682 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16120769 http://www.ncbi.nlm.nih.gov/pubmed/16120769 PubMed 16572171 http://www.ncbi.nlm.nih.gov/pubmed/16572171 PubMed 8906617 http://www.ncbi.nlm.nih.gov/pubmed/8906617 PubMed 9009220 http://www.ncbi.nlm.nih.gov/pubmed/9009220 PubMed 9203638 http://www.ncbi.nlm.nih.gov/pubmed/9203638 Reactome R-HSA-629587 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-629587 Reactome R-HSA-629594 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-629594 Reactome R-HSA-629597 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-629597 Reactome R-HSA-6798695 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6798695 RefSeq NP_000741 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000741 RefSeq NP_001243496 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001243496 STRING 9606.ENSP00000261751 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000261751&targetmode=cogs SUPFAM SSF63712 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF63712 SUPFAM SSF90112 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF90112 TIGRFAMs TIGR00860 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00860 UCSC uc002bed http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002bed&org=rat UniGene Hs.624178 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.624178 UniProtKB ACHB4_HUMAN http://www.uniprot.org/uniprot/ACHB4_HUMAN UniProtKB-AC P30926 http://www.uniprot.org/uniprot/P30926 charge swissprot:ACHB4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ACHB4_HUMAN eggNOG ENOG410XQGR http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XQGR eggNOG KOG3645 http://eggnogapi.embl.de/nog_data/html/tree/KOG3645 epestfind swissprot:ACHB4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ACHB4_HUMAN garnier swissprot:ACHB4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ACHB4_HUMAN helixturnhelix swissprot:ACHB4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ACHB4_HUMAN hmoment swissprot:ACHB4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ACHB4_HUMAN iep swissprot:ACHB4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ACHB4_HUMAN inforesidue swissprot:ACHB4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ACHB4_HUMAN neXtProt NX_P30926 http://www.nextprot.org/db/entry/NX_P30926 octanol swissprot:ACHB4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ACHB4_HUMAN pepcoil swissprot:ACHB4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ACHB4_HUMAN pepdigest swissprot:ACHB4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ACHB4_HUMAN pepinfo swissprot:ACHB4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ACHB4_HUMAN pepnet swissprot:ACHB4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ACHB4_HUMAN pepstats swissprot:ACHB4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ACHB4_HUMAN pepwheel swissprot:ACHB4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ACHB4_HUMAN pepwindow swissprot:ACHB4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ACHB4_HUMAN sigcleave swissprot:ACHB4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ACHB4_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS MFRN1_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9NYZ2-1; Sequence=Displayed; Name=2; IsoId=Q9NYZ2-2; Sequence=VSP_018402, VSP_018403; Name=4; IsoId=Q9NYZ2-4; Sequence=VSP_018400; Note=No experimental confirmation available.; # AltName MFRN1_HUMAN Mitochondrial iron transporter 1 # AltName MFRN1_HUMAN Mitochondrial solute carrier protein # AltName MFRN1_HUMAN Solute carrier family 25 member 37 # CCDS CCDS47828 -. [Q9NYZ2-1] # ChiTaRS SLC25A37 human # Ensembl ENST00000290075 ENSP00000290075; ENSG00000147454. [Q9NYZ2-2] # Ensembl ENST00000519973 ENSP00000429200; ENSG00000147454. [Q9NYZ2-1] # ExpressionAtlas Q9NYZ2 baseline and differential # FUNCTION MFRN1_HUMAN Mitochondrial iron transporter that specifically mediates iron uptake in developing erythroid cells, thereby playing an essential role in heme biosynthesis. The iron delivered into the mitochondria, presumably as Fe(2+), is then probably delivered to ferrochelatase to catalyze Fe(2+) incorporation into protoprophyrin IX to make heme (By similarity). {ECO 0000250}. # GO_component GO:0005743 mitochondrial inner membrane; IEA:UniProtKB-SubCell. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0015093 ferrous iron transmembrane transporter activity; IEA:Ensembl. # GO_process GO:0048250 mitochondrial iron ion transport; IEA:Ensembl. # GO_process GO:0055072 iron ion homeostasis; IEA:UniProtKB-KW. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0042592 homeostatic process # Gene3D 1.50.40.10 -; 1. # Genevisible Q9NYZ2 HS # HGNC HGNC:29786 SLC25A37 # InterPro IPR018108 Mitochondrial_sb/sol_carrier # InterPro IPR023395 Mt_carrier_dom # KEGG_Brite ko02001 Solute carrier family # MIM 610387 gene # Organism MFRN1_HUMAN Homo sapiens (Human) # PROSITE PS50920 SOLCAR; 3 # Pfam PF00153 Mito_carr; 3 # Proteomes UP000005640 Chromosome 8 # Reactome R-HSA-1362409 Mitochondrial iron-sulfur cluster biogenesis # RecName MFRN1_HUMAN Mitoferrin-1 # RefSeq NP_001304741 NM_001317812.1. [Q9NYZ2-4] # RefSeq NP_001304742 NM_001317813.1 # RefSeq NP_001304743 NM_001317814.1 # RefSeq NP_057696 NM_016612.3. [Q9NYZ2-1] # RefSeq XP_011542856 XM_011544554.2. [Q9NYZ2-4] # SEQUENCE CAUTION Sequence=AAF64141.1; Type=Frameshift; Positions=296; Evidence={ECO:0000305}; Sequence=CAH10415.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the mitochondrial carrier (TC 2.A.29) family. {ECO 0000305}. # SIMILARITY Contains 3 Solcar repeats. {ECO:0000255|PROSITE- ProRule PRU00282}. # SUBCELLULAR LOCATION MFRN1_HUMAN Mitochondrion inner membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. # SUPFAM SSF103506 SSF103506 # TCDB 2.A.29.5 the mitochondrial carrier (mc) family # UCSC uc003xds human. [Q9NYZ2-1] # eggNOG ENOG410XNT2 LUCA # eggNOG KOG0760 Eukaryota BLAST swissprot:MFRN1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:MFRN1_HUMAN COXPRESdb 51312 http://coxpresdb.jp/data/gene/51312.shtml CleanEx HS_SLC25A37 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC25A37 DOI 10.1007/s00335001-2075-1 http://dx.doi.org/10.1007/s00335001-2075-1 DOI 10.1073/pnas.160270997 http://dx.doi.org/10.1073/pnas.160270997 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 EMBL AF155660 http://www.ebi.ac.uk/ena/data/view/AF155660 EMBL AF223466 http://www.ebi.ac.uk/ena/data/view/AF223466 EMBL AK223194 http://www.ebi.ac.uk/ena/data/view/AK223194 EMBL AL833186 http://www.ebi.ac.uk/ena/data/view/AL833186 EMBL AY032628 http://www.ebi.ac.uk/ena/data/view/AY032628 EMBL BC015013 http://www.ebi.ac.uk/ena/data/view/BC015013 EMBL BC132799 http://www.ebi.ac.uk/ena/data/view/BC132799 EMBL BC132801 http://www.ebi.ac.uk/ena/data/view/BC132801 EMBL CH471080 http://www.ebi.ac.uk/ena/data/view/CH471080 Ensembl ENST00000290075 http://www.ensembl.org/id/ENST00000290075 Ensembl ENST00000519973 http://www.ensembl.org/id/ENST00000519973 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0015093 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015093 GO_process GO:0048250 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048250 GO_process GO:0055072 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055072 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 Gene3D 1.50.40.10 http://www.cathdb.info/version/latest/superfamily/1.50.40.10 GeneCards SLC25A37 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC25A37 GeneID 51312 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=51312 GeneTree ENSGT00550000074721 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074721 H-InvDB HIX0007389 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0007389 HGNC HGNC:29786 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:29786 HOGENOM HOG000171727 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000171727&db=HOGENOM6 HOVERGEN HBG079464 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG079464&db=HOVERGEN HPA HPA045680 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA045680 InParanoid Q9NYZ2 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9NYZ2 InterPro IPR018108 http://www.ebi.ac.uk/interpro/entry/IPR018108 InterPro IPR023395 http://www.ebi.ac.uk/interpro/entry/IPR023395 Jabion 51312 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=51312 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:51312 http://www.genome.jp/dbget-bin/www_bget?hsa:51312 KEGG_Orthology KO:K15113 http://www.genome.jp/dbget-bin/www_bget?KO:K15113 MIM 610387 http://www.ncbi.nlm.nih.gov/omim/610387 OMA PRRDYNP http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=PRRDYNP OrthoDB EOG091G0PU8 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0PU8 PROSITE PS50920 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50920 PSORT swissprot:MFRN1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:MFRN1_HUMAN PSORT-B swissprot:MFRN1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:MFRN1_HUMAN PSORT2 swissprot:MFRN1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:MFRN1_HUMAN Pfam PF00153 http://pfam.xfam.org/family/PF00153 PharmGKB PA142670909 http://www.pharmgkb.org/do/serve?objId=PA142670909&objCls=Gene Phobius swissprot:MFRN1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:MFRN1_HUMAN PhylomeDB Q9NYZ2 http://phylomedb.org/?seqid=Q9NYZ2 ProteinModelPortal Q9NYZ2 http://www.proteinmodelportal.org/query/uniprot/Q9NYZ2 PubMed 10931946 http://www.ncbi.nlm.nih.gov/pubmed/10931946 PubMed 11845285 http://www.ncbi.nlm.nih.gov/pubmed/11845285 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 Reactome R-HSA-1362409 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1362409 RefSeq NP_001304741 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001304741 RefSeq NP_001304742 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001304742 RefSeq NP_001304743 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001304743 RefSeq NP_057696 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_057696 RefSeq XP_011542856 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011542856 STRING 9606.ENSP00000429200 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000429200&targetmode=cogs SUPFAM SSF103506 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103506 TCDB 2.A.29.5 http://www.tcdb.org/search/result.php?tc=2.A.29.5 UCSC uc003xds http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003xds&org=rat UniGene Hs.596025 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.596025 UniGene Hs.658208 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.658208 UniGene Hs.726050 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.726050 UniProtKB MFRN1_HUMAN http://www.uniprot.org/uniprot/MFRN1_HUMAN UniProtKB-AC Q9NYZ2 http://www.uniprot.org/uniprot/Q9NYZ2 charge swissprot:MFRN1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:MFRN1_HUMAN eggNOG ENOG410XNT2 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XNT2 eggNOG KOG0760 http://eggnogapi.embl.de/nog_data/html/tree/KOG0760 epestfind swissprot:MFRN1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:MFRN1_HUMAN garnier swissprot:MFRN1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:MFRN1_HUMAN helixturnhelix swissprot:MFRN1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:MFRN1_HUMAN hmoment swissprot:MFRN1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:MFRN1_HUMAN iep swissprot:MFRN1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:MFRN1_HUMAN inforesidue swissprot:MFRN1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:MFRN1_HUMAN neXtProt NX_Q9NYZ2 http://www.nextprot.org/db/entry/NX_Q9NYZ2 octanol swissprot:MFRN1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:MFRN1_HUMAN pepcoil swissprot:MFRN1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:MFRN1_HUMAN pepdigest swissprot:MFRN1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:MFRN1_HUMAN pepinfo swissprot:MFRN1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:MFRN1_HUMAN pepnet swissprot:MFRN1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:MFRN1_HUMAN pepstats swissprot:MFRN1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:MFRN1_HUMAN pepwheel swissprot:MFRN1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:MFRN1_HUMAN pepwindow swissprot:MFRN1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:MFRN1_HUMAN sigcleave swissprot:MFRN1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:MFRN1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS Event=Alternative splicing; Named isoforms=7; Comment=Experimental confirmation may be lacking for some isoforms.; Name=1; IsoId=Q9UP95-1; Sequence=Displayed; Name=2; IsoId=Q9UP95-2; Sequence=VSP_006113, VSP_006114; Name=3; IsoId=Q9UP95-3; Sequence=VSP_006112; Name=4; IsoId=Q9UP95-4; Sequence=VSP_006108, VSP_006109, VSP_006110, VSP_006111; Name=5; IsoId=Q9UP95-5; Sequence=VSP_044596; Note=No experimental confirmation available.; Name=6; IsoId=Q9UP95-6; Sequence=VSP_046146; Note=No experimental confirmation available. Ref.3 (BAH14786) sequence is in conflict in position: 4 E->G. {ECO:0000305}; Name=7; IsoId=Q9UP95-7; Sequence=VSP_046369; Note=No experimental confirmation available.; # AltName S12A4_HUMAN Electroneutral potassium-chloride cotransporter 1 # AltName S12A4_HUMAN Erythroid K-Cl cotransporter 1 # BioGrid 112449 25 # CCDS CCDS10855 -. [Q9UP95-1] # CCDS CCDS54030 -. [Q9UP95-6] # CCDS CCDS54031 -. [Q9UP95-5] # CCDS CCDS54032 -. [Q9UP95-7] # DrugBank DB00761 Potassium Chloride # DrugBank DB00887 Bumetanide # ENZYME REGULATION Inhibited by WNK3. {ECO:0000269|PubMed 21613606}. # Ensembl ENST00000316341 ENSP00000318557; ENSG00000124067. [Q9UP95-1] # Ensembl ENST00000422611 ENSP00000395983; ENSG00000124067. [Q9UP95-7] # Ensembl ENST00000537830 ENSP00000445962; ENSG00000124067. [Q9UP95-6] # Ensembl ENST00000541864 ENSP00000438334; ENSG00000124067. [Q9UP95-5] # Ensembl ENST00000576616 ENSP00000458902; ENSG00000124067. [Q9UP95-2] # ExpressionAtlas Q9UP95 baseline and differential # FUNCTION S12A4_HUMAN Mediates electroneutral potassium-chloride cotransport when activated by cell swelling. May contribute to cell volume homeostasis in single cells. May be involved in the regulation of basolateral Cl(-) exit in NaCl absorbing epithelia (By similarity). Isoform 4 has no transport activity. {ECO 0000250}. # GO_component GO:0005765 lysosomal membrane; IDA:UniProtKB. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0016020 membrane; TAS:ProtInc. # GO_function GO:0019901 protein kinase binding; IPI:ParkinsonsUK-UCL. # GO_function GO:0022820 potassium ion symporter activity; IBA:GO_Central. # GO_function S12A4_HUMAN GO 0015379 potassium chloride symporter activity; TAS Reactome. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0006811 ion transport; TAS:Reactome. # GO_process GO:0006884 cell volume homeostasis; TAS:ProtInc. # GO_process GO:0007268 chemical synaptic transmission; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0019899 enzyme binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0042592 homeostatic process # Genevisible Q9UP95 HS # HGNC HGNC:10913 SLC12A4 # IntAct Q9UP95 9 # InterPro IPR000076 KCL_cotranspt # InterPro IPR000622 KCC1 # InterPro IPR004841 AA-permease/SLC12A_dom # InterPro IPR004842 SLC12A_fam # InterPro IPR018491 SLC12_C # KEGG_Brite ko02001 Solute carrier family # MIM 604119 gene # Organism S12A4_HUMAN Homo sapiens (Human) # PANTHER PTHR11827:SF46 PTHR11827:SF46; 4 # PRINTS PR01081 KCLTRNSPORT # PRINTS PR01082 KCLTRNSPORT1 # PTM S12A4_HUMAN N-glycosylated. # Pfam PF00324 AA_permease; 2 # Pfam PF03522 SLC12; 2 # Proteomes UP000005640 Chromosome 16 # Reactome R-HSA-426117 Cation-coupled Chloride cotransporters # RecName S12A4_HUMAN Solute carrier family 12 member 4 # RefSeq NP_001139433 NM_001145961.1 # RefSeq NP_001139434 NM_001145962.1. [Q9UP95-7] # RefSeq NP_001139435 NM_001145963.1. [Q9UP95-6] # RefSeq NP_001139436 NM_001145964.1. [Q9UP95-5] # RefSeq NP_005063 NM_005072.4. [Q9UP95-1] # SEQUENCE CAUTION Sequence=AAC35282.1; Type=Frameshift; Positions=454; Evidence={ECO:0000305}; Sequence=BAG57330.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the SLC12A transporter family. {ECO 0000305}. # SUBCELLULAR LOCATION S12A4_HUMAN Membrane; Multi-pass membrane protein. # SUBUNIT Homomultimer and heteromultimer with other K-Cl cotransporters. {ECO:0000269|PubMed 11551954}. # TCDB 2.A.30.5 the cation-chloride cotransporter (ccc) family # TIGRFAMs TIGR00930 2a30 # TISSUE SPECIFICITY S12A4_HUMAN Ubiquitous. Levels are much higher in erythrocytes from patients with Hb SC and Hb SS compared to normal AA erythrocytes. This may contribute to red blood cell dehydration and to the manifestation of sickle cell disease by increasing the intracellular concentration of HbS. Isoform 1 was not detected in circulating reticulocytes. # UCSC uc002euz human. [Q9UP95-1] # eggNOG COG0531 LUCA # eggNOG KOG2082 Eukaryota BLAST swissprot:S12A4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S12A4_HUMAN BioCyc ZFISH:ENSG00000124067-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000124067-MONOMER COXPRESdb 6560 http://coxpresdb.jp/data/gene/6560.shtml CleanEx HS_SLC12A4 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC12A4 DOI 10.1006/bcmd.1998.0168 http://dx.doi.org/10.1006/bcmd.1998.0168 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature03187 http://dx.doi.org/10.1038/nature03187 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1074/jbc.271.27.16237 http://dx.doi.org/10.1074/jbc.271.27.16237 DOI 10.1074/jbc.M107155200 http://dx.doi.org/10.1074/jbc.M107155200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/scisignal.2000007 http://dx.doi.org/10.1126/scisignal.2000007 DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 DOI 10.1126/scisignal.2001570 http://dx.doi.org/10.1126/scisignal.2001570 DOI 10.1152/ajpcell.00070.2011 http://dx.doi.org/10.1152/ajpcell.00070.2011 DrugBank DB00761 http://www.drugbank.ca/drugs/DB00761 DrugBank DB00887 http://www.drugbank.ca/drugs/DB00887 EMBL AC040162 http://www.ebi.ac.uk/ena/data/view/AC040162 EMBL AF047338 http://www.ebi.ac.uk/ena/data/view/AF047338 EMBL AF053402 http://www.ebi.ac.uk/ena/data/view/AF053402 EMBL AF054505 http://www.ebi.ac.uk/ena/data/view/AF054505 EMBL AF054506 http://www.ebi.ac.uk/ena/data/view/AF054506 EMBL AK293956 http://www.ebi.ac.uk/ena/data/view/AK293956 EMBL AK299042 http://www.ebi.ac.uk/ena/data/view/AK299042 EMBL AK302790 http://www.ebi.ac.uk/ena/data/view/AK302790 EMBL AK316415 http://www.ebi.ac.uk/ena/data/view/AK316415 EMBL AY026038 http://www.ebi.ac.uk/ena/data/view/AY026038 EMBL BC021193 http://www.ebi.ac.uk/ena/data/view/BC021193 EMBL U55054 http://www.ebi.ac.uk/ena/data/view/U55054 Ensembl ENST00000316341 http://www.ensembl.org/id/ENST00000316341 Ensembl ENST00000422611 http://www.ensembl.org/id/ENST00000422611 Ensembl ENST00000537830 http://www.ensembl.org/id/ENST00000537830 Ensembl ENST00000541864 http://www.ensembl.org/id/ENST00000541864 Ensembl ENST00000576616 http://www.ensembl.org/id/ENST00000576616 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005765 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005765 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_function GO:0015379 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015379 GO_function GO:0019901 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019901 GO_function GO:0022820 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022820 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0006811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006811 GO_process GO:0006884 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006884 GO_process GO:0007268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007268 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GeneCards SLC12A4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC12A4 GeneID 6560 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6560 GeneTree ENSGT00760000119053 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119053 HGNC HGNC:10913 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10913 HOGENOM HOG000092644 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000092644&db=HOGENOM6 HOVERGEN HBG052852 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052852&db=HOVERGEN HPA HPA041138 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA041138 InParanoid Q9UP95 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9UP95 IntAct Q9UP95 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9UP95* InterPro IPR000076 http://www.ebi.ac.uk/interpro/entry/IPR000076 InterPro IPR000622 http://www.ebi.ac.uk/interpro/entry/IPR000622 InterPro IPR004841 http://www.ebi.ac.uk/interpro/entry/IPR004841 InterPro IPR004842 http://www.ebi.ac.uk/interpro/entry/IPR004842 InterPro IPR018491 http://www.ebi.ac.uk/interpro/entry/IPR018491 Jabion 6560 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6560 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:6560 http://www.genome.jp/dbget-bin/www_bget?hsa:6560 KEGG_Orthology KO:K14427 http://www.genome.jp/dbget-bin/www_bget?KO:K14427 MIM 604119 http://www.ncbi.nlm.nih.gov/omim/604119 MINT MINT-1191426 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1191426 OMA VATQLWK http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=VATQLWK OrthoDB EOG091G0WB4 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0WB4 PANTHER PTHR11827:SF46 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11827:SF46 PRINTS PR01081 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01081 PRINTS PR01082 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01082 PSORT swissprot:S12A4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S12A4_HUMAN PSORT-B swissprot:S12A4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S12A4_HUMAN PSORT2 swissprot:S12A4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S12A4_HUMAN Pfam PF00324 http://pfam.xfam.org/family/PF00324 Pfam PF03522 http://pfam.xfam.org/family/PF03522 PharmGKB PA35807 http://www.pharmgkb.org/do/serve?objId=PA35807&objCls=Gene Phobius swissprot:S12A4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S12A4_HUMAN PhylomeDB Q9UP95 http://phylomedb.org/?seqid=Q9UP95 ProteinModelPortal Q9UP95 http://www.proteinmodelportal.org/query/uniprot/Q9UP95 PubMed 10564083 http://www.ncbi.nlm.nih.gov/pubmed/10564083 PubMed 11551954 http://www.ncbi.nlm.nih.gov/pubmed/11551954 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15616553 http://www.ncbi.nlm.nih.gov/pubmed/15616553 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 19690332 http://www.ncbi.nlm.nih.gov/pubmed/19690332 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 21406692 http://www.ncbi.nlm.nih.gov/pubmed/21406692 PubMed 21613606 http://www.ncbi.nlm.nih.gov/pubmed/21613606 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 8663127 http://www.ncbi.nlm.nih.gov/pubmed/8663127 PubMed 9516379 http://www.ncbi.nlm.nih.gov/pubmed/9516379 Reactome R-HSA-426117 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-426117 RefSeq NP_001139433 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001139433 RefSeq NP_001139434 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001139434 RefSeq NP_001139435 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001139435 RefSeq NP_001139436 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001139436 RefSeq NP_005063 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_005063 STRING 9606.ENSP00000395983 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000395983&targetmode=cogs TCDB 2.A.30.5 http://www.tcdb.org/search/result.php?tc=2.A.30.5 TIGRFAMs TIGR00930 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00930 UCSC uc002euz http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002euz&org=rat UniGene Hs.10094 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.10094 UniProtKB S12A4_HUMAN http://www.uniprot.org/uniprot/S12A4_HUMAN UniProtKB-AC Q9UP95 http://www.uniprot.org/uniprot/Q9UP95 charge swissprot:S12A4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S12A4_HUMAN eggNOG COG0531 http://eggnogapi.embl.de/nog_data/html/tree/COG0531 eggNOG KOG2082 http://eggnogapi.embl.de/nog_data/html/tree/KOG2082 epestfind swissprot:S12A4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S12A4_HUMAN garnier swissprot:S12A4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S12A4_HUMAN helixturnhelix swissprot:S12A4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S12A4_HUMAN hmoment swissprot:S12A4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S12A4_HUMAN iep swissprot:S12A4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S12A4_HUMAN inforesidue swissprot:S12A4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S12A4_HUMAN neXtProt NX_Q9UP95 http://www.nextprot.org/db/entry/NX_Q9UP95 octanol swissprot:S12A4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S12A4_HUMAN pepcoil swissprot:S12A4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S12A4_HUMAN pepdigest swissprot:S12A4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S12A4_HUMAN pepinfo swissprot:S12A4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S12A4_HUMAN pepnet swissprot:S12A4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S12A4_HUMAN pepstats swissprot:S12A4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S12A4_HUMAN pepwheel swissprot:S12A4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S12A4_HUMAN pepwindow swissprot:S12A4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S12A4_HUMAN sigcleave swissprot:S12A4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S12A4_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS SO6A1_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q86UG4-1; Sequence=Displayed; Name=2; IsoId=Q86UG4-2; Sequence=VSP_028753; Note=No experimental confirmation available.; Name=3; IsoId=Q86UG4-3; Sequence=VSP_028753, VSP_028754; Note=No experimental confirmation available.; # AltName SO6A1_HUMAN Cancer/testis antigen 48 # AltName SO6A1_HUMAN Gonad-specific transporter # AltName SO6A1_HUMAN Organic anion-transporting polypeptide 6A1 # AltName SO6A1_HUMAN Organic anion-transporting polypeptide I # AltName SO6A1_HUMAN Solute carrier family 21 member 19 # BioGrid 126359 12 # CCDS CCDS34206 -. [Q86UG4-1] # CCDS CCDS75282 -. [Q86UG4-2] # CCDS CCDS78042 -. [Q86UG4-3] # CDD cd06174 MFS # Ensembl ENST00000379807 ENSP00000369135; ENSG00000205359. [Q86UG4-1] # Ensembl ENST00000389019 ENSP00000373671; ENSG00000205359. [Q86UG4-2] # Ensembl ENST00000506729 ENSP00000421339; ENSG00000205359. [Q86UG4-1] # ExpressionAtlas Q86UG4 baseline and differential # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_function GO:0015347 sodium-independent organic anion transmembrane transporter activity; IBA:GO_Central. # GO_process GO:0043252 sodium-independent organic anion transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # Genevisible Q86UG4 HS # HGNC HGNC:23613 SLCO6A1 # InterPro IPR002350 Kazal_dom # InterPro IPR004156 OA_transporter # InterPro IPR020846 MFS_dom # KEGG_Brite ko02001 Solute carrier family # MIM 613365 gene # Organism SO6A1_HUMAN Homo sapiens (Human) # PANTHER PTHR11388 PTHR11388 # PROSITE PS51465 KAZAL_2 # Pfam PF03137 OATP # Pfam PF07648 Kazal_2 # Proteomes UP000005640 Chromosome 5 # RecName SO6A1_HUMAN Solute carrier organic anion transporter family member 6A1 # RefSeq NP_001275931 NM_001289002.1. [Q86UG4-1] # RefSeq NP_001275933 NM_001289004.1. [Q86UG4-2] # RefSeq NP_001294943 NM_001308014.1 # RefSeq NP_775759 NM_173488.4. [Q86UG4-1] # RefSeq XP_005271931 XM_005271874.3. [Q86UG4-1] # SIMILARITY Belongs to the organo anion transporter (TC 2.A.60) family. {ECO 0000305}. # SIMILARITY Contains 1 Kazal-like domain. {ECO:0000255|PROSITE- ProRule PRU00798}. # SUBCELLULAR LOCATION SO6A1_HUMAN Cell membrane; Multi-pass membrane protein. # SUPFAM SSF103473 SSF103473; 3 # TCDB 2.A.60.1.17 the organo anion transporter (oat) family # TIGRFAMs TIGR00805 oat # TISSUE SPECIFICITY SO6A1_HUMAN Strongly expressed in testis. Weakly expressed in spleen, brain, fetal brain and placenta. Detected in lung tumors. {ECO 0000269|PubMed 12677006, ECO 0000269|PubMed 15546177}. # UCSC uc003knn human. [Q86UG4-1] # eggNOG ENOG410XRSF LUCA # eggNOG KOG3626 Eukaryota BLAST swissprot:SO6A1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SO6A1_HUMAN BioCyc ZFISH:G66-32472-MONOMER http://biocyc.org/getid?id=ZFISH:G66-32472-MONOMER COXPRESdb 133482 http://coxpresdb.jp/data/gene/133482.shtml CleanEx HS_SLCO6A1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLCO6A1 DOI 10.1038/nature02919 http://dx.doi.org/10.1038/nature02919 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1210/me.2002-0304 http://dx.doi.org/10.1210/me.2002-0304 EMBL AC094108 http://www.ebi.ac.uk/ena/data/view/AC094108 EMBL AF505657 http://www.ebi.ac.uk/ena/data/view/AF505657 EMBL AK131445 http://www.ebi.ac.uk/ena/data/view/AK131445 EMBL AY273897 http://www.ebi.ac.uk/ena/data/view/AY273897 EMBL BC034976 http://www.ebi.ac.uk/ena/data/view/BC034976 EMBL CH471086 http://www.ebi.ac.uk/ena/data/view/CH471086 Ensembl ENST00000379807 http://www.ensembl.org/id/ENST00000379807 Ensembl ENST00000389019 http://www.ensembl.org/id/ENST00000389019 Ensembl ENST00000506729 http://www.ensembl.org/id/ENST00000506729 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0015347 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015347 GO_process GO:0043252 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043252 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GeneCards SLCO6A1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLCO6A1 GeneID 133482 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=133482 GeneTree ENSGT00760000119014 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119014 H-InvDB HIX0024807 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0024807 HGNC HGNC:23613 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:23613 HOGENOM HOG000231270 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231270&db=HOGENOM6 HOVERGEN HBG100565 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG100565&db=HOVERGEN HPA HPA054126 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA054126 InParanoid Q86UG4 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q86UG4 InterPro IPR002350 http://www.ebi.ac.uk/interpro/entry/IPR002350 InterPro IPR004156 http://www.ebi.ac.uk/interpro/entry/IPR004156 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 133482 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=133482 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:133482 http://www.genome.jp/dbget-bin/www_bget?hsa:133482 KEGG_Orthology KO:K14357 http://www.genome.jp/dbget-bin/www_bget?KO:K14357 MIM 613365 http://www.ncbi.nlm.nih.gov/omim/613365 OMA ALMRFIM http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=ALMRFIM OrthoDB EOG091G02FX http://cegg.unige.ch/orthodb/results?searchtext=EOG091G02FX PANTHER PTHR11388 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11388 PROSITE PS51465 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51465 PSORT swissprot:SO6A1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SO6A1_HUMAN PSORT-B swissprot:SO6A1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SO6A1_HUMAN PSORT2 swissprot:SO6A1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SO6A1_HUMAN Pfam PF03137 http://pfam.xfam.org/family/PF03137 Pfam PF07648 http://pfam.xfam.org/family/PF07648 PharmGKB PA134949852 http://www.pharmgkb.org/do/serve?objId=PA134949852&objCls=Gene Phobius swissprot:SO6A1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SO6A1_HUMAN PhylomeDB Q86UG4 http://phylomedb.org/?seqid=Q86UG4 ProteinModelPortal Q86UG4 http://www.proteinmodelportal.org/query/uniprot/Q86UG4 PubMed 12677006 http://www.ncbi.nlm.nih.gov/pubmed/12677006 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15372022 http://www.ncbi.nlm.nih.gov/pubmed/15372022 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15546177 http://www.ncbi.nlm.nih.gov/pubmed/15546177 RefSeq NP_001275931 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001275931 RefSeq NP_001275933 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001275933 RefSeq NP_001294943 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001294943 RefSeq NP_775759 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_775759 RefSeq XP_005271931 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005271931 STRING 9606.ENSP00000369135 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000369135&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.60.1.17 http://www.tcdb.org/search/result.php?tc=2.A.60.1.17 TIGRFAMs TIGR00805 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00805 UCSC uc003knn http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003knn&org=rat UniGene Hs.388874 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.388874 UniProtKB SO6A1_HUMAN http://www.uniprot.org/uniprot/SO6A1_HUMAN UniProtKB-AC Q86UG4 http://www.uniprot.org/uniprot/Q86UG4 charge swissprot:SO6A1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SO6A1_HUMAN eggNOG ENOG410XRSF http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XRSF eggNOG KOG3626 http://eggnogapi.embl.de/nog_data/html/tree/KOG3626 epestfind swissprot:SO6A1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SO6A1_HUMAN garnier swissprot:SO6A1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SO6A1_HUMAN helixturnhelix swissprot:SO6A1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SO6A1_HUMAN hmoment swissprot:SO6A1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SO6A1_HUMAN iep swissprot:SO6A1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SO6A1_HUMAN inforesidue swissprot:SO6A1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SO6A1_HUMAN neXtProt NX_Q86UG4 http://www.nextprot.org/db/entry/NX_Q86UG4 octanol swissprot:SO6A1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SO6A1_HUMAN pepcoil swissprot:SO6A1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SO6A1_HUMAN pepdigest swissprot:SO6A1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SO6A1_HUMAN pepinfo swissprot:SO6A1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SO6A1_HUMAN pepnet swissprot:SO6A1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SO6A1_HUMAN pepstats swissprot:SO6A1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SO6A1_HUMAN pepwheel swissprot:SO6A1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SO6A1_HUMAN pepwindow swissprot:SO6A1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SO6A1_HUMAN sigcleave swissprot:SO6A1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SO6A1_HUMAN ## Database ID URL or Descriptions # AltName ASNA_HUMAN Transmembrane domain recognition complex 40 kDa ATPase subunit # AltName ASNA_HUMAN hARSA-I # AltName ASNA_HUMAN hASNA-I # AltName Arsenical pump-driving ATPase {ECO:0000255|HAMAP-Rule MF_03112} # AltName Arsenite-stimulated ATPase {ECO:0000255|HAMAP-Rule MF_03112} # BIOPHYSICOCHEMICAL PROPERTIES ASNA_HUMAN Kinetic parameters KM=0.22 mM for ATP {ECO 0000269|PubMed 9712828}; Vmax=16.6 nmol/min/mg enzyme for ATP {ECO 0000269|PubMed 9712828}; # BRENDA 3.6.3.16 2681 # BioGrid 106931 47 # ChiTaRS ASNA1 human # DrugBank DB00171 Adenosine triphosphate # Ensembl ENST00000357332 ENSP00000349887; ENSG00000198356 # Ensembl ENST00000591090 ENSP00000466379; ENSG00000198356 # ExpressionAtlas O43681 baseline and differential # FUNCTION ASNA_HUMAN ATPase required for the post-translational delivery of tail-anchored (TA) proteins to the endoplasmic reticulum. Recognizes and selectively binds the transmembrane domain of TA proteins in the cytosol. This complex then targets to the endoplasmic reticulum by membrane-bound receptors, where the tail- anchored protein is released for insertion. This process is regulated by ATP binding and hydrolysis. ATP binding drives the homodimer towards the closed dimer state, facilitating recognition of newly synthesized TA membrane proteins. ATP hydrolysis is required for insertion. Subsequently, the homodimer reverts towards the open dimer state, lowering its affinity for the membrane-bound receptor, and returning it to the cytosol to initiate a new round of targeting (By similarity). May be involved in insulin signaling. {ECO 0000255|HAMAP-Rule MF_03112, ECO 0000269|PubMed 17382883, ECO 0000269|PubMed 18477612}. # GO_component GO:0005634 nucleus; IDA:HPA. # GO_component GO:0005730 nucleolus; IDA:HPA. # GO_component GO:0005737 cytoplasm; TAS:ProtInc. # GO_component GO:0005789 endoplasmic reticulum membrane; TAS:Reactome. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0005215 transporter activity; TAS:ProtInc. # GO_function GO:0005524 ATP binding; IEA:UniProtKB-HAMAP. # GO_function GO:0015105 arsenite transmembrane transporter activity; TAS:ProtInc. # GO_function GO:0043492 ATPase activity, coupled to movement of substances; TAS:Reactome. # GO_function GO:0046872 metal ion binding; IEA:UniProtKB-KW. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0036498 IRE1-mediated unfolded protein response; TAS:Reactome. # GO_process GO:0045048 protein insertion into ER membrane; IEA:UniProtKB-HAMAP. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005730 nucleolus # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # Gene3D 3.40.50.300 -; 2. # Genevisible O43681 HS # HAMAP MF_03112 Asna1_Get3 # HGNC HGNC:752 ASNA1 # INTERACTION ASNA_HUMAN Q12797 ASPH; NbExp=3; IntAct=EBI-2515857, EBI-2967294; Q7L5D6 GET4; NbExp=3; IntAct=EBI-2515857, EBI-711823; Q96SL4 GPX7; NbExp=3; IntAct=EBI-2515857, EBI-749411; Q9Y5L2 HILPDA; NbExp=3; IntAct=EBI-2515857, EBI-8803836; # IntAct O43681 17 # InterPro IPR016300 ATPase_ArsA/GET3 # InterPro IPR025723 Anion-transp_ATPase-like_dom # InterPro IPR027417 P-loop_NTPase # InterPro IPR027542 ATPase_ArsA/GET3_euk # KEGG_Brite ko01000 Enzymes # KEGG_Brite ko02000 Transporters # MIM 601913 gene # Organism ASNA_HUMAN Homo sapiens (Human) # PANTHER PTHR10803 PTHR10803 # Pfam PF02374 ArsA_ATPase # Proteomes UP000005640 Chromosome 19 # Reactome R-HSA-381038 XBP1(S) activates chaperone genes # RecName ATPase ASNA1 {ECO:0000255|HAMAP-Rule MF_03112} # RefSeq NP_004308 NM_004317.3 # SEQUENCE CAUTION Sequence=AAC50731.1; Type=Frameshift; Positions=19; Evidence={ECO 0000305}; # SIMILARITY Belongs to the arsA ATPase family. {ECO:0000255|HAMAP- Rule MF_03112}. # SUBCELLULAR LOCATION ASNA_HUMAN Cytoplasm. Endoplasmic reticulum. Nucleus, nucleolus. # SUBUNIT ASNA_HUMAN Homodimer (By similarity). Component of a transmembrane domain recognition complex (TRC) (By similarity). Interacts with SERP1 and SEC61B (By similarity). Interacts with WRB. {ECO 0000255|HAMAP-Rule MF_03112, ECO 0000269|PubMed 17382883, ECO 0000269|PubMed 18477612, ECO 0000269|PubMed 21444755}. # SUPFAM SSF52540 SSF52540 # TCDB 3.A.19.1 the tms recognition/insertion complex (trc) family # TIGRFAMs TIGR00345 GET3_arsA_TRC40 # TISSUE SPECIFICITY Expressed in the epithelial cells of the liver, kidney, and stomach wall, in the adrenal medulla, in the islet cells of the pancreas, in the red pulp of the spleen, and in cardiac and skeletal muscle. {ECO:0000269|PubMed 9774623}. # UCSC uc002muv human # WEB RESOURCE ASNA_HUMAN Name=NIEHS-SNPs; URL="http //egp.gs.washington.edu/data/asna1/"; # eggNOG COG0003 LUCA # eggNOG KOG2825 Eukaryota BLAST swissprot:ASNA_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ASNA_HUMAN BioCyc ZFISH:HS02764-MONOMER http://biocyc.org/getid?id=ZFISH:HS02764-MONOMER COG COG0003 http://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=COG0003 COXPRESdb 439 http://coxpresdb.jp/data/gene/439.shtml CleanEx HS_ARSA http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ARSA CleanEx HS_ASNA1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ASNA1 DOI 10.1002/(SICI)1097-4644(19981001)71:1<1::AID-JCB1>3.3.CO http://dx.doi.org/10.1002/(SICI)1097-4644(19981001)71:1<1::AID-JCB1>3.3.CO DOI 10.1006/geno.1996.0494 http://dx.doi.org/10.1006/geno.1996.0494 DOI 10.1016/j.cell.2007.01.036 http://dx.doi.org/10.1016/j.cell.2007.01.036 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/ac9004309 http://dx.doi.org/10.1021/ac9004309 DOI 10.1038/nature02399 http://dx.doi.org/10.1038/nature02399 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.273.35.22173 http://dx.doi.org/10.1074/jbc.273.35.22173 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1177/002215549804601104 http://dx.doi.org/10.1177/002215549804601104 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DOI 10.1242/jcs.020321 http://dx.doi.org/10.1242/jcs.020321 DOI 10.1242/jcs.084277 http://dx.doi.org/10.1242/jcs.084277 DrugBank DB00171 http://www.drugbank.ca/drugs/DB00171 EC_number EC:3.6.-.- {ECO:0000255|HAMAP-Rule:MF_03112} http://www.genome.jp/dbget-bin/www_bget?EC:3.6.-.- {ECO:0000255|HAMAP-Rule:MF_03112} EMBL AC018761 http://www.ebi.ac.uk/ena/data/view/AC018761 EMBL AF047469 http://www.ebi.ac.uk/ena/data/view/AF047469 EMBL AK223363 http://www.ebi.ac.uk/ena/data/view/AK223363 EMBL AK291855 http://www.ebi.ac.uk/ena/data/view/AK291855 EMBL AY304483 http://www.ebi.ac.uk/ena/data/view/AY304483 EMBL BC002651 http://www.ebi.ac.uk/ena/data/view/BC002651 EMBL CH471106 http://www.ebi.ac.uk/ena/data/view/CH471106 EMBL U60276 http://www.ebi.ac.uk/ena/data/view/U60276 ENZYME 3.6.-.- {ECO:0000255|HAMAP-Rule:MF_03112} http://enzyme.expasy.org/EC/3.6.-.- {ECO:0000255|HAMAP-Rule:MF_03112} Ensembl ENST00000357332 http://www.ensembl.org/id/ENST00000357332 Ensembl ENST00000591090 http://www.ensembl.org/id/ENST00000591090 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005730 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005730 GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005789 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005789 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0005215 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005215 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0015105 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015105 GO_function GO:0043492 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043492 GO_function GO:0046872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046872 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0036498 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0036498 GO_process GO:0045048 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045048 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_component GO:0005730 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005730 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 Gene3D 3.40.50.300 http://www.cathdb.info/version/latest/superfamily/3.40.50.300 GeneCards ASNA1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ASNA1 GeneID 439 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=439 GeneTree ENSGT00390000003817 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000003817 HAMAP MF_03112 http://hamap.expasy.org/unirule/MF_03112 HGNC HGNC:752 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:752 HOGENOM HOG000197637 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000197637&db=HOGENOM6 HPA HPA045951 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA045951 HPA HPA048087 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA048087 InParanoid O43681 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O43681 IntAct O43681 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O43681* IntEnz 3.6.-.- {ECO:0000255|HAMAP-Rule:MF_03112} http://www.ebi.ac.uk/intenz/query?cmd=Search&q=3.6.-.- {ECO:0000255|HAMAP-Rule:MF_03112} InterPro IPR016300 http://www.ebi.ac.uk/interpro/entry/IPR016300 InterPro IPR025723 http://www.ebi.ac.uk/interpro/entry/IPR025723 InterPro IPR027417 http://www.ebi.ac.uk/interpro/entry/IPR027417 InterPro IPR027542 http://www.ebi.ac.uk/interpro/entry/IPR027542 Jabion 439 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=439 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Gene hsa:439 http://www.genome.jp/dbget-bin/www_bget?hsa:439 KEGG_Orthology KO:K01551 http://www.genome.jp/dbget-bin/www_bget?KO:K01551 MIM 601913 http://www.ncbi.nlm.nih.gov/omim/601913 MINT MINT-4656878 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-4656878 OMA YEIDTHN http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=YEIDTHN OrthoDB EOG091G0CAR http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0CAR PANTHER PTHR10803 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10803 PSORT swissprot:ASNA_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ASNA_HUMAN PSORT-B swissprot:ASNA_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ASNA_HUMAN PSORT2 swissprot:ASNA_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ASNA_HUMAN Pfam PF02374 http://pfam.xfam.org/family/PF02374 PharmGKB PA25051 http://www.pharmgkb.org/do/serve?objId=PA25051&objCls=Gene Phobius swissprot:ASNA_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ASNA_HUMAN PhylomeDB O43681 http://phylomedb.org/?seqid=O43681 ProteinModelPortal O43681 http://www.proteinmodelportal.org/query/uniprot/O43681 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15057824 http://www.ncbi.nlm.nih.gov/pubmed/15057824 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 17382883 http://www.ncbi.nlm.nih.gov/pubmed/17382883 PubMed 18477612 http://www.ncbi.nlm.nih.gov/pubmed/18477612 PubMed 19413330 http://www.ncbi.nlm.nih.gov/pubmed/19413330 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 21444755 http://www.ncbi.nlm.nih.gov/pubmed/21444755 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 8884272 http://www.ncbi.nlm.nih.gov/pubmed/8884272 PubMed 9712828 http://www.ncbi.nlm.nih.gov/pubmed/9712828 PubMed 9736449 http://www.ncbi.nlm.nih.gov/pubmed/9736449 PubMed 9774623 http://www.ncbi.nlm.nih.gov/pubmed/9774623 Reactome R-HSA-381038 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-381038 RefSeq NP_004308 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004308 SMR O43681 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=O43681 STRING 9606.ENSP00000349887 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000349887&targetmode=cogs STRING COG0003 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=COG0003&targetmode=cogs SUPFAM SSF52540 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52540 TCDB 3.A.19.1 http://www.tcdb.org/search/result.php?tc=3.A.19.1 TIGRFAMs TIGR00345 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00345 UCSC uc002muv http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002muv&org=rat UniGene Hs.465985 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.465985 UniProtKB ASNA_HUMAN http://www.uniprot.org/uniprot/ASNA_HUMAN UniProtKB-AC O43681 http://www.uniprot.org/uniprot/O43681 charge swissprot:ASNA_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ASNA_HUMAN eggNOG COG0003 http://eggnogapi.embl.de/nog_data/html/tree/COG0003 eggNOG KOG2825 http://eggnogapi.embl.de/nog_data/html/tree/KOG2825 epestfind swissprot:ASNA_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ASNA_HUMAN garnier swissprot:ASNA_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ASNA_HUMAN helixturnhelix swissprot:ASNA_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ASNA_HUMAN hmoment swissprot:ASNA_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ASNA_HUMAN iep swissprot:ASNA_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ASNA_HUMAN inforesidue swissprot:ASNA_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ASNA_HUMAN neXtProt NX_O43681 http://www.nextprot.org/db/entry/NX_O43681 octanol swissprot:ASNA_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ASNA_HUMAN pepcoil swissprot:ASNA_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ASNA_HUMAN pepdigest swissprot:ASNA_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ASNA_HUMAN pepinfo swissprot:ASNA_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ASNA_HUMAN pepnet swissprot:ASNA_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ASNA_HUMAN pepstats swissprot:ASNA_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ASNA_HUMAN pepwheel swissprot:ASNA_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ASNA_HUMAN pepwindow swissprot:ASNA_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ASNA_HUMAN sigcleave swissprot:ASNA_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ASNA_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS ACHB_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P11230-1; Sequence=Displayed; Name=2; IsoId=P11230-2; Sequence=VSP_056675; Note=No experimental confirmation available.; # CCDS CCDS11106 -. [P11230-1] # ChiTaRS CHRNB1 human # DISEASE ACHB_HUMAN Myasthenic syndrome, congenital, 2A, slow-channel (CMS2A) [MIM 616313] A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS2A is a slow-channel myasthenic syndrome. It is caused by kinetic abnormalities of the AChR, resulting in prolonged AChR channel opening episodes, prolonged endplate currents, and depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane. {ECO 0000269|PubMed 8651643, ECO 0000269|PubMed 8872460}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE ACHB_HUMAN Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency (CMS2C) [MIM 616314] A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS2C is an autosomal recessive disorder of postsynaptic neuromuscular transmission, due to deficiency of AChR at the endplate that results in low amplitude of the miniature endplate potential and current. CMS2C is clinically characterized by early-onset muscle weakness with variable severity. {ECO 0000269|PubMed 10562302}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DrugBank DB00674 Galantamine # Ensembl ENST00000306071 ENSP00000304290; ENSG00000170175. [P11230-1] # Ensembl ENST00000536404 ENSP00000439209; ENSG00000170175. [P11230-2] # ExpressionAtlas P11230 baseline and differential # FUNCTION ACHB_HUMAN After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. # GO_component GO:0005887 integral component of plasma membrane; NAS:UniProtKB. # GO_component GO:0005892 acetylcholine-gated channel complex; IMP:UniProtKB. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0045202 synapse; IMP:UniProtKB. # GO_component GO:0045211 postsynaptic membrane; IEA:UniProtKB-SubCell. # GO_function GO:0004889 acetylcholine-activated cation-selective channel activity; IEA:Ensembl. # GO_function GO:0015267 channel activity; IMP:UniProtKB. # GO_function GO:0015276 ligand-gated ion channel activity; ISS:UniProtKB. # GO_function GO:0042166 acetylcholine binding; ISS:UniProtKB. # GO_process GO:0001941 postsynaptic membrane organization; IMP:UniProtKB. # GO_process GO:0003009 skeletal muscle contraction; IEA:Ensembl. # GO_process GO:0006812 cation transport; IMP:UniProtKB. # GO_process GO:0006936 muscle contraction; IMP:UniProtKB. # GO_process GO:0007165 signal transduction; IMP:UniProtKB. # GO_process GO:0007271 synaptic transmission, cholinergic; IMP:UniProtKB. # GO_process GO:0007274 neuromuscular synaptic transmission; IMP:UniProtKB. # GO_process GO:0035095 behavioral response to nicotine; IMP:UniProtKB. # GO_process GO:0042391 regulation of membrane potential; ISS:UniProtKB. # GO_process GO:0048747 muscle fiber development; IMP:UniProtKB. # GO_process GO:0050877 neurological system process; IMP:UniProtKB. # GO_process GO:0098655 cation transmembrane transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0050877 neurological system process # GOslim_process GO:0055085 transmembrane transport # GOslim_process GO:0061024 membrane organization # Gene3D 1.20.120.370 -; 2. # Gene3D 2.70.170.10 -; 1. # Genevisible P11230 HS # HGNC HGNC:1961 CHRNB1 # InterPro IPR002394 Nicotinic_acetylcholine_rcpt # InterPro IPR006029 Neurotrans-gated_channel_TM # InterPro IPR006201 Neur_channel # InterPro IPR006202 Neur_chan_lig-bd # InterPro IPR018000 Neurotransmitter_ion_chnl_CS # InterPro IPR027361 Acetylcholine_rcpt_TM # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00770 [Nervous system disease] Congenital myasthenic syndrome # KEGG_Pathway ko04080 Neuroactive ligand-receptor interaction # MIM 100710 gene # MIM 616313 phenotype # MIM 616314 phenotype # Organism ACHB_HUMAN Homo sapiens (Human) # Orphanet 98913 Postsynaptic congenital myasthenic syndromes # PANTHER PTHR18945 PTHR18945; 2 # PIR S04607 S04607 # PRINTS PR00252 NRIONCHANNEL # PRINTS PR00254 NICOTINICR # PROSITE PS00236 NEUROTR_ION_CHANNEL # Pfam PF02931 Neur_chan_LBD # Pfam PF02932 Neur_chan_memb # Proteomes UP000005640 Chromosome 17 # RecName ACHB_HUMAN Acetylcholine receptor subunit beta # RefSeq NP_000738 NM_000747.2. [P11230-1] # SIMILARITY Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Beta- 1/CHRNB1 sub-subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION ACHB_HUMAN Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. # SUBUNIT ACHB_HUMAN Pentamer of two alpha chains, and one each of the beta, delta, and gamma (in immature muscle) or epsilon (in mature muscle) chains. # SUPFAM SSF63712 SSF63712 # SUPFAM SSF90112 SSF90112 # TCDB 1.A.9.1 the neurotransmitter receptor, cys loop, ligand-gated ion channel (lic) family # TIGRFAMs TIGR00860 LIC # UCSC uc002ghb human. [P11230-1] # eggNOG ENOG410XQGR LUCA # eggNOG KOG3645 Eukaryota BLAST swissprot:ACHB_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ACHB_HUMAN BioCyc ZFISH:ENSG00000170175-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000170175-MONOMER COXPRESdb 1140 http://coxpresdb.jp/data/gene/1140.shtml CleanEx HS_CHRNB1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CHRNB1 DOI 10.1002/ana.410390607 http://dx.doi.org/10.1002/ana.410390607 DOI 10.1038/nature04689 http://dx.doi.org/10.1038/nature04689 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1093/hmg/5.9.1217 http://dx.doi.org/10.1093/hmg/5.9.1217 DOI 10.1093/nar/17.11.4391 http://dx.doi.org/10.1093/nar/17.11.4391 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1172/JCI8179 http://dx.doi.org/10.1172/JCI8179 DrugBank DB00674 http://www.drugbank.ca/drugs/DB00674 EMBL AC113189 http://www.ebi.ac.uk/ena/data/view/AC113189 EMBL AK298938 http://www.ebi.ac.uk/ena/data/view/AK298938 EMBL BC011371 http://www.ebi.ac.uk/ena/data/view/BC011371 EMBL BC023553 http://www.ebi.ac.uk/ena/data/view/BC023553 EMBL X14830 http://www.ebi.ac.uk/ena/data/view/X14830 Ensembl ENST00000306071 http://www.ensembl.org/id/ENST00000306071 Ensembl ENST00000536404 http://www.ensembl.org/id/ENST00000536404 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0005892 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005892 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0045202 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045202 GO_component GO:0045211 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045211 GO_function GO:0004889 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004889 GO_function GO:0015267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015267 GO_function GO:0015276 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015276 GO_function GO:0042166 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042166 GO_process GO:0001941 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001941 GO_process GO:0003009 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003009 GO_process GO:0006812 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006812 GO_process GO:0006936 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006936 GO_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GO_process GO:0007271 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007271 GO_process GO:0007274 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007274 GO_process GO:0035095 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035095 GO_process GO:0042391 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042391 GO_process GO:0048747 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048747 GO_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GO_process GO:0098655 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0098655 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GOslim_process GO:0061024 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061024 Gene3D 1.20.120.370 http://www.cathdb.info/version/latest/superfamily/1.20.120.370 Gene3D 2.70.170.10 http://www.cathdb.info/version/latest/superfamily/2.70.170.10 GeneCards CHRNB1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CHRNB1 GeneID 1140 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=1140 GeneTree ENSGT00760000118930 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118930 HGNC HGNC:1961 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:1961 HOGENOM HOG000006757 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000006757&db=HOGENOM6 HOVERGEN HBG003756 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG003756&db=HOVERGEN HPA CAB011200 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB011200 HPA HPA005822 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA005822 InParanoid P11230 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P11230 IntAct P11230 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P11230* InterPro IPR002394 http://www.ebi.ac.uk/interpro/entry/IPR002394 InterPro IPR006029 http://www.ebi.ac.uk/interpro/entry/IPR006029 InterPro IPR006201 http://www.ebi.ac.uk/interpro/entry/IPR006201 InterPro IPR006202 http://www.ebi.ac.uk/interpro/entry/IPR006202 InterPro IPR018000 http://www.ebi.ac.uk/interpro/entry/IPR018000 InterPro IPR027361 http://www.ebi.ac.uk/interpro/entry/IPR027361 Jabion 1140 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=1140 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00770 http://www.genome.jp/dbget-bin/www_bget?H00770 KEGG_Gene hsa:1140 http://www.genome.jp/dbget-bin/www_bget?hsa:1140 KEGG_Orthology KO:K04812 http://www.genome.jp/dbget-bin/www_bget?KO:K04812 KEGG_Pathway ko04080 http://www.genome.jp/kegg-bin/show_pathway?ko04080 MIM 100710 http://www.ncbi.nlm.nih.gov/omim/100710 MIM 616313 http://www.ncbi.nlm.nih.gov/omim/616313 MIM 616314 http://www.ncbi.nlm.nih.gov/omim/616314 MINT MINT-3007602 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-3007602 OMA FIDGPNR http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=FIDGPNR Orphanet 98913 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=98913 OrthoDB EOG091G0R20 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0R20 PANTHER PTHR18945 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR18945 PRINTS PR00252 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00252 PRINTS PR00254 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00254 PROSITE PS00236 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00236 PSORT swissprot:ACHB_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ACHB_HUMAN PSORT-B swissprot:ACHB_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ACHB_HUMAN PSORT2 swissprot:ACHB_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ACHB_HUMAN Pfam PF02931 http://pfam.xfam.org/family/PF02931 Pfam PF02932 http://pfam.xfam.org/family/PF02932 PharmGKB PA26494 http://www.pharmgkb.org/do/serve?objId=PA26494&objCls=Gene Phobius swissprot:ACHB_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ACHB_HUMAN PhylomeDB P11230 http://phylomedb.org/?seqid=P11230 ProteinModelPortal P11230 http://www.proteinmodelportal.org/query/uniprot/P11230 PubMed 10562302 http://www.ncbi.nlm.nih.gov/pubmed/10562302 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16625196 http://www.ncbi.nlm.nih.gov/pubmed/16625196 PubMed 2740233 http://www.ncbi.nlm.nih.gov/pubmed/2740233 PubMed 8651643 http://www.ncbi.nlm.nih.gov/pubmed/8651643 PubMed 8872460 http://www.ncbi.nlm.nih.gov/pubmed/8872460 RefSeq NP_000738 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000738 STRING 9606.ENSP00000304290 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000304290&targetmode=cogs SUPFAM SSF63712 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF63712 SUPFAM SSF90112 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF90112 TCDB 1.A.9.1 http://www.tcdb.org/search/result.php?tc=1.A.9.1 TIGRFAMs TIGR00860 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00860 UCSC uc002ghb http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002ghb&org=rat UniGene Hs.330386 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.330386 UniProtKB ACHB_HUMAN http://www.uniprot.org/uniprot/ACHB_HUMAN UniProtKB-AC P11230 http://www.uniprot.org/uniprot/P11230 charge swissprot:ACHB_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ACHB_HUMAN eggNOG ENOG410XQGR http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XQGR eggNOG KOG3645 http://eggnogapi.embl.de/nog_data/html/tree/KOG3645 epestfind swissprot:ACHB_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ACHB_HUMAN garnier swissprot:ACHB_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ACHB_HUMAN helixturnhelix swissprot:ACHB_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ACHB_HUMAN hmoment swissprot:ACHB_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ACHB_HUMAN iep swissprot:ACHB_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ACHB_HUMAN inforesidue swissprot:ACHB_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ACHB_HUMAN neXtProt NX_P11230 http://www.nextprot.org/db/entry/NX_P11230 octanol swissprot:ACHB_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ACHB_HUMAN pepcoil swissprot:ACHB_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ACHB_HUMAN pepdigest swissprot:ACHB_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ACHB_HUMAN pepinfo swissprot:ACHB_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ACHB_HUMAN pepnet swissprot:ACHB_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ACHB_HUMAN pepstats swissprot:ACHB_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ACHB_HUMAN pepwheel swissprot:ACHB_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ACHB_HUMAN pepwindow swissprot:ACHB_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ACHB_HUMAN sigcleave swissprot:ACHB_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ACHB_HUMAN ## Database ID URL or Descriptions # AltName AK1C4_HUMAN 3-alpha-HSD1 # AltName AK1C4_HUMAN 3-alpha-hydroxysteroid dehydrogenase type I # AltName AK1C4_HUMAN Chlordecone reductase # AltName AK1C4_HUMAN Dihydrodiol dehydrogenase 4 # AltName AK1C4_HUMAN HAKRA # BRENDA 1.1.1.357 2681 # BioGrid 107534 4 # CATALYTIC ACTIVITY AK1C4_HUMAN A 3-alpha-hydroxysteroid + NAD(P)(+) = a 3- oxosteroid + NAD(P)H. # CATALYTIC ACTIVITY AK1C4_HUMAN Chlordecone alcohol + NADP(+) = chlordecone + NADPH. # CDD cd06660 Aldo_ket_red # DISEASE AK1C4_HUMAN 46,XY sex reversal 8 (SRXY8) [MIM 614279] A disorder of sex development. Affected individuals have a 46,XY karyotype but present as phenotypically normal females. {ECO 0000269|PubMed 21802064}. Note=The gene represented in this entry may act as a disease modifier. A splicing mutation resulting in loss of AKR1C4 exon 2 has been found in affected individuals carrying a causative mutation in AKR1C2 (PubMed 21802064). These patients manifest a more severe disease phenotype than individuals only carrying mutations in AKR1C2. {ECO 0000269|PubMed 21802064}. # Ensembl ENST00000263126 ENSP00000263126; ENSG00000198610 # Ensembl ENST00000380448 ENSP00000369814; ENSG00000198610 # FUNCTION AK1C4_HUMAN Catalyzes the transformation of the potent androgen dihydrotestosterone (DHT) into the less active form, 5-alpha- androstan-3-alpha,17-beta-diol (3-alpha-diol). Also has some 20- alpha-hydroxysteroid dehydrogenase activity. The biotransformation of the pesticide chlordecone (kepone) to its corresponding alcohol leads to increased biliary excretion of the pesticide and concomitant reduction of its neurotoxicity since bile is the major excretory route. # GO_component GO:0005737 cytoplasm; TAS:ProtInc. # GO_component GO:0005829 cytosol; TAS:Reactome. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0001758 retinal dehydrogenase activity; IDA:UniProtKB. # GO_function GO:0004033 aldo-keto reductase (NADP) activity; TAS:Reactome. # GO_function GO:0009055 electron carrier activity; TAS:UniProtKB. # GO_function GO:0015125 bile acid transmembrane transporter activity; TAS:ProtInc. # GO_function GO:0016655 oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor; IDA:UniProtKB. # GO_function GO:0047023 androsterone dehydrogenase activity; IDA:UniProtKB. # GO_function GO:0047743 chlordecone reductase activity; IEA:UniProtKB-EC. # GO_process GO:0001523 retinoid metabolic process; TAS:Reactome. # GO_process GO:0006699 bile acid biosynthetic process; TAS:Reactome. # GO_process GO:0008202 steroid metabolic process; TAS:ProtInc. # GO_process GO:0008209 androgen metabolic process; TAS:ProtInc. # GO_process GO:0015721 bile acid and bile salt transport; TAS:ProtInc. # GO_process GO:0044597 daunorubicin metabolic process; IMP:UniProtKB. # GO_process GO:0044598 doxorubicin metabolic process; IMP:UniProtKB. # GO_process GO:0071395 cellular response to jasmonic acid stimulus; IDA:UniProtKB. # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005829 cytosol # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0016491 oxidoreductase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006629 lipid metabolic process # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0019748 secondary metabolic process # GOslim_process GO:0044281 small molecule metabolic process # GOslim_process GO:0051186 cofactor metabolic process # Gene3D 3.20.20.100 -; 1. # Genevisible P17516 HS # HGNC HGNC:387 AKR1C4 # InterPro IPR001395 Aldo/ket_red/Kv-b # InterPro IPR018170 Aldo/ket_reductase_CS # InterPro IPR020471 Aldo/keto_reductase # InterPro IPR023210 NADP_OxRdtase_dom # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko01000 Enzymes # KEGG_Pathway ko00980 Metabolism of xenobiotics by cytochrome P450 # MIM 600451 gene # MIM 614279 phenotype # Organism AK1C4_HUMAN Homo sapiens (Human) # Orphanet 90796 46,XY disorder of sex development due to isolated 17,20 lyase deficiency # PANTHER PTHR11732 PTHR11732; 2 # PDB 2FVL X-ray; 2.40 A; A/B/C=1-323 # PIR A57407 A57407 # PIR S59620 S59620 # PIRSF PIRSF000097 AKR # POLYMORPHISM AK1C4_HUMAN The allele with Cys-145/Val-311 shows a three- to five-fold decrease in catalytic efficiency for xenobiotic and steroidal substrates compared to the Ser-145/Leu-311 allele. # PRINTS PR00069 ALDKETRDTASE # PROSITE PS00062 ALDOKETO_REDUCTASE_2 # PROSITE PS00063 ALDOKETO_REDUCTASE_3 # PROSITE PS00798 ALDOKETO_REDUCTASE_1 # PTM AK1C4_HUMAN The N-terminus is blocked. # Pfam PF00248 Aldo_ket_red # Proteomes UP000005640 Chromosome 10 # Reactome R-HSA-193368 Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol # Reactome R-HSA-193775 Synthesis of bile acids and bile salts via 24-hydroxycholesterol # Reactome R-HSA-193807 Synthesis of bile acids and bile salts via 27-hydroxycholesterol # Reactome R-HSA-975634 Retinoid metabolism and transport # RecName AK1C4_HUMAN Aldo-keto reductase family 1 member C4 # RefSeq NP_001809 NM_001818.3 # SEQUENCE CAUTION Sequence=AAA35658.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the aldo/keto reductase family. {ECO 0000305}. # SUBCELLULAR LOCATION AK1C4_HUMAN Cytoplasm. # SUBUNIT Monomer. {ECO 0000269|Ref.14}. # SUPFAM SSF51430 SSF51430 # TISSUE SPECIFICITY AK1C4_HUMAN Liver specific. {ECO 0000269|PubMed 11158055, ECO 0000269|PubMed 7650035}. # UCSC uc001ihw human # eggNOG COG0656 LUCA # eggNOG KOG1577 Eukaryota BLAST swissprot:AK1C4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:AK1C4_HUMAN BioCyc MetaCyc:HS10739-MONOMER http://biocyc.org/getid?id=MetaCyc:HS10739-MONOMER BioCyc ZFISH:HS10739-MONOMER http://biocyc.org/getid?id=ZFISH:HS10739-MONOMER COXPRESdb 1109 http://coxpresdb.jp/data/gene/1109.shtml CleanEx HS_AKR1C4 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_AKR1C4 DOI 10.1016/0006-291X(92)91260-W http://dx.doi.org/10.1016/0006-291X(92)91260-W DOI 10.1016/0960-0760(93)90308-J http://dx.doi.org/10.1016/0960-0760(93)90308-J DOI 10.1016/0960-0760(95)00019-V http://dx.doi.org/10.1016/0960-0760(95)00019-V DOI 10.1016/j.ajhg.2011.06.009 http://dx.doi.org/10.1016/j.ajhg.2011.06.009 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/bi00456a034 http://dx.doi.org/10.1021/bi00456a034 DOI 10.1038/nature02462 http://dx.doi.org/10.1038/nature02462 DOI 10.1042/bj2990545 http://dx.doi.org/10.1042/bj2990545 DOI 10.1046/j.1365-2443.2000.00310.x http://dx.doi.org/10.1046/j.1365-2443.2000.00310.x DOI 10.1074/jbc.270.34.20162 http://dx.doi.org/10.1074/jbc.270.34.20162 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1210/jcem.86.2.7216 http://dx.doi.org/10.1210/jcem.86.2.7216 EC_number EC:1.1.1.- http://www.genome.jp/dbget-bin/www_bget?EC:1.1.1.- EC_number EC:1.1.1.225 http://www.genome.jp/dbget-bin/www_bget?EC:1.1.1.225 EC_number EC:1.1.1.357 http://www.genome.jp/dbget-bin/www_bget?EC:1.1.1.357 EMBL AB031085 http://www.ebi.ac.uk/ena/data/view/AB031085 EMBL AB032163 http://www.ebi.ac.uk/ena/data/view/AB032163 EMBL AB045829 http://www.ebi.ac.uk/ena/data/view/AB045829 EMBL AL355303 http://www.ebi.ac.uk/ena/data/view/AL355303 EMBL BC020744 http://www.ebi.ac.uk/ena/data/view/BC020744 EMBL D26125 http://www.ebi.ac.uk/ena/data/view/D26125 EMBL M33375 http://www.ebi.ac.uk/ena/data/view/M33375 EMBL S68287 http://www.ebi.ac.uk/ena/data/view/S68287 ENZYME 1.1.1.- http://enzyme.expasy.org/EC/1.1.1.- ENZYME 1.1.1.225 http://enzyme.expasy.org/EC/1.1.1.225 ENZYME 1.1.1.357 http://enzyme.expasy.org/EC/1.1.1.357 Ensembl ENST00000263126 http://www.ensembl.org/id/ENST00000263126 Ensembl ENST00000380448 http://www.ensembl.org/id/ENST00000380448 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0001758 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001758 GO_function GO:0004033 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004033 GO_function GO:0009055 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009055 GO_function GO:0015125 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015125 GO_function GO:0016655 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016655 GO_function GO:0047023 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0047023 GO_function GO:0047743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0047743 GO_process GO:0001523 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001523 GO_process GO:0006699 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006699 GO_process GO:0008202 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008202 GO_process GO:0008209 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008209 GO_process GO:0015721 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015721 GO_process GO:0044597 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044597 GO_process GO:0044598 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044598 GO_process GO:0071395 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071395 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0016491 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016491 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006629 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006629 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0019748 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019748 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GOslim_process GO:0051186 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051186 Gene3D 3.20.20.100 http://www.cathdb.info/version/latest/superfamily/3.20.20.100 GeneCards AKR1C4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=AKR1C4 GeneID 1109 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=1109 GeneTree ENSGT00760000119041 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119041 HGNC HGNC:387 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:387 HOGENOM HOG000250272 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000250272&db=HOGENOM6 HOVERGEN HBG000020 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG000020&db=HOVERGEN HPA HPA044720 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA044720 InParanoid P17516 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P17516 IntEnz 1.1.1 http://www.ebi.ac.uk/intenz/query?cmd=Search&q=1.1.1 IntEnz 1.1.1.225 http://www.ebi.ac.uk/intenz/query?cmd=Search&q=1.1.1.225 IntEnz 1.1.1.357 http://www.ebi.ac.uk/intenz/query?cmd=Search&q=1.1.1.357 InterPro IPR001395 http://www.ebi.ac.uk/interpro/entry/IPR001395 InterPro IPR018170 http://www.ebi.ac.uk/interpro/entry/IPR018170 InterPro IPR020471 http://www.ebi.ac.uk/interpro/entry/IPR020471 InterPro IPR023210 http://www.ebi.ac.uk/interpro/entry/IPR023210 Jabion 1109 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=1109 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Gene hsa:1109 http://www.genome.jp/dbget-bin/www_bget?hsa:1109 KEGG_Orthology KO:K00212 http://www.genome.jp/dbget-bin/www_bget?KO:K00212 KEGG_Pathway ko00980 http://www.genome.jp/kegg-bin/show_pathway?ko00980 KEGG_Reaction rn:R07015 http://www.genome.jp/dbget-bin/www_bget?rn:R07015 KEGG_Reaction rn:R09420 http://www.genome.jp/dbget-bin/www_bget?rn:R09420 MIM 600451 http://www.ncbi.nlm.nih.gov/omim/600451 MIM 614279 http://www.ncbi.nlm.nih.gov/omim/614279 OMA LLHFPMA http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=LLHFPMA Orphanet 90796 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=90796 OrthoDB EOG091G0D69 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0D69 PANTHER PTHR11732 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11732 PDB 2FVL http://www.ebi.ac.uk/pdbe-srv/view/entry/2FVL PDBsum 2FVL http://www.ebi.ac.uk/pdbsum/2FVL PRINTS PR00069 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00069 PROSITE PS00062 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00062 PROSITE PS00063 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00063 PROSITE PS00798 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00798 PSORT swissprot:AK1C4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:AK1C4_HUMAN PSORT-B swissprot:AK1C4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:AK1C4_HUMAN PSORT2 swissprot:AK1C4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:AK1C4_HUMAN Pfam PF00248 http://pfam.xfam.org/family/PF00248 PharmGKB PA24680 http://www.pharmgkb.org/do/serve?objId=PA24680&objCls=Gene Phobius swissprot:AK1C4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:AK1C4_HUMAN PhylomeDB P17516 http://phylomedb.org/?seqid=P17516 ProteinModelPortal P17516 http://www.proteinmodelportal.org/query/uniprot/P17516 PubMed 10634139 http://www.ncbi.nlm.nih.gov/pubmed/10634139 PubMed 10672042 http://www.ncbi.nlm.nih.gov/pubmed/10672042 PubMed 11158055 http://www.ncbi.nlm.nih.gov/pubmed/11158055 PubMed 15164054 http://www.ncbi.nlm.nih.gov/pubmed/15164054 PubMed 1530633 http://www.ncbi.nlm.nih.gov/pubmed/1530633 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 21802064 http://www.ncbi.nlm.nih.gov/pubmed/21802064 PubMed 2187532 http://www.ncbi.nlm.nih.gov/pubmed/2187532 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 7626489 http://www.ncbi.nlm.nih.gov/pubmed/7626489 PubMed 7650035 http://www.ncbi.nlm.nih.gov/pubmed/7650035 PubMed 8172617 http://www.ncbi.nlm.nih.gov/pubmed/8172617 PubMed 8274401 http://www.ncbi.nlm.nih.gov/pubmed/8274401 Reactome R-HSA-193368 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-193368 Reactome R-HSA-193775 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-193775 Reactome R-HSA-193807 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-193807 Reactome R-HSA-975634 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-975634 RefSeq NP_001809 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001809 SMR P17516 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P17516 STRING 9606.ENSP00000263126 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000263126&targetmode=cogs SUPFAM SSF51430 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF51430 UCSC uc001ihw http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001ihw&org=rat UniGene Hs.567245 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.567245 UniProtKB AK1C4_HUMAN http://www.uniprot.org/uniprot/AK1C4_HUMAN UniProtKB-AC P17516 http://www.uniprot.org/uniprot/P17516 charge swissprot:AK1C4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:AK1C4_HUMAN eggNOG COG0656 http://eggnogapi.embl.de/nog_data/html/tree/COG0656 eggNOG KOG1577 http://eggnogapi.embl.de/nog_data/html/tree/KOG1577 epestfind swissprot:AK1C4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:AK1C4_HUMAN garnier swissprot:AK1C4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:AK1C4_HUMAN helixturnhelix swissprot:AK1C4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:AK1C4_HUMAN hmoment swissprot:AK1C4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:AK1C4_HUMAN iep swissprot:AK1C4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:AK1C4_HUMAN inforesidue swissprot:AK1C4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:AK1C4_HUMAN neXtProt NX_P17516 http://www.nextprot.org/db/entry/NX_P17516 octanol swissprot:AK1C4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:AK1C4_HUMAN pepcoil swissprot:AK1C4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:AK1C4_HUMAN pepdigest swissprot:AK1C4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:AK1C4_HUMAN pepinfo swissprot:AK1C4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:AK1C4_HUMAN pepnet swissprot:AK1C4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:AK1C4_HUMAN pepstats swissprot:AK1C4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:AK1C4_HUMAN pepwheel swissprot:AK1C4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:AK1C4_HUMAN pepwindow swissprot:AK1C4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:AK1C4_HUMAN sigcleave swissprot:AK1C4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:AK1C4_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS NCKX1_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=O60721-1; Sequence=Displayed; Name=2; IsoId=O60721-2; Sequence=VSP_006160; Note=No experimental confirmation available.; Name=3; IsoId=O60721-3; Sequence=VSP_054491; Note=No experimental confirmation available.; # AltName NCKX1_HUMAN Na(+)/K(+)/Ca(2+)-exchange protein 1 # AltName NCKX1_HUMAN Retinal rod Na-Ca+K exchanger # AltName NCKX1_HUMAN Solute carrier family 24 member 1 # BioGrid 114624 2 # CCDS CCDS45284 -. [O60721-1] # CCDS CCDS73742 -. [O60721-3] # CCDS CCDS73743 -. [O60721-2] # DISEASE NCKX1_HUMAN Night blindness, congenital stationary, 1D (CSNB1D) [MIM 613830] An autosomal recessive form of congenital stationary night blindness, a non-progressive retinal disorder characterized by impaired night vision. CSNB1D is characterized by a Riggs type of electroretinogram (proportionally reduced a- and b-waves). Patients have visual acuity within the normal range and no symptoms of myopia and/or nystagmus. {ECO 0000269|PubMed 20850105}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000261892 ENSP00000261892; ENSG00000074621. [O60721-1] # Ensembl ENST00000339868 ENSP00000341837; ENSG00000074621. [O60721-3] # Ensembl ENST00000399033 ENSP00000381991; ENSG00000074621. [O60721-3] # Ensembl ENST00000546330 ENSP00000439190; ENSG00000074621. [O60721-2] # ExpressionAtlas O60721 baseline and differential # FUNCTION NCKX1_HUMAN Critical component of the visual transduction cascade, controlling the calcium concentration of outer segments during light and darkness. Light causes a rapid lowering of cytosolic free calcium in the outer segment of both retinal rod and cone photoreceptors and the light-induced lowering of calcium is caused by extrusion via this protein which plays a key role in the process of light adaptation. Transports 1 Ca(2+) and 1 K(+) in exchange for 4 Na(+). {ECO 0000269|PubMed 10608890}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0016020 membrane; TAS:ProtInc. # GO_component GO:0019867 outer membrane; NAS:UniProtKB. # GO_function GO:0005262 calcium channel activity; IBA:GO_Central. # GO_function GO:0005509 calcium ion binding; IBA:GO_Central. # GO_function GO:0015293 symporter activity; IEA:UniProtKB-KW. # GO_function GO:0030955 potassium ion binding; IBA:GO_Central. # GO_function GO:0031402 sodium ion binding; IBA:GO_Central. # GO_function NCKX1_HUMAN GO 0008273 calcium, potassium sodium antiporter activity; NAS UniProtKB. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0006811 ion transport; TAS:Reactome. # GO_process GO:0006816 calcium ion transport; NAS:UniProtKB. # GO_process GO:0006874 cellular calcium ion homeostasis; IBA:GO_Central. # GO_process GO:0007601 visual perception; NAS:UniProtKB. # GO_process GO:0009642 response to light intensity; NAS:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0050877 neurological system process # Genevisible O60721 HS # HGNC HGNC:10975 SLC24A1 # INTERACTION NCKX1_HUMAN P16333 NCK1; NbExp=3; IntAct=EBI-1753504, EBI-389883; # IntAct O60721 5 # InterPro IPR004481 K/Na/Ca-exchanger # InterPro IPR004817 SLC24A1 # InterPro IPR004837 NaCa_Exmemb # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02001 Solute carrier family # KEGG_Disease H00787 [Nervous system disease; Eye disease] Oguchi disease/ CSNB Oguchi type (CSNBO) # KEGG_Pathway ko04744 Phototransduction # MIM 603617 gene # MIM 613830 phenotype # Organism NCKX1_HUMAN Homo sapiens (Human) # Orphanet 215 Congenital stationary night blindness # PANTHER PTHR10846 PTHR10846; 4 # PTM NCKX1_HUMAN The uncleaved signal sequence is required for efficient membrane targeting and proper membrane integration. # Pfam PF01699 Na_Ca_ex; 2 # Proteomes UP000005640 Chromosome 15 # Reactome R-HSA-2485179 Activation of the phototransduction cascade # Reactome R-HSA-425561 Sodium/Calcium exchangers # RecName NCKX1_HUMAN Sodium/potassium/calcium exchanger 1 # RefSeq NP_001287960 NM_001301031.1. [O60721-3] # RefSeq NP_001287961 NM_001301032.1. [O60721-2] # RefSeq NP_001287962 NM_001301033.1 # RefSeq NP_004718 NM_004727.2. [O60721-1] # RefSeq XP_005254835 XM_005254778.3. [O60721-1] # RefSeq XP_011520521 XM_011522219.1. [O60721-1] # RefSeq XP_011520522 XM_011522220.2. [O60721-2] # RefSeq XP_011520523 XM_011522221.2. [O60721-3] # SIMILARITY Belongs to the Ca(2+):cation antiporter (CaCA) (TC 2.A.19) family. SLC24A subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION NCKX1_HUMAN Membrane; Multi-pass membrane protein. # TCDB 2.A.19.4:the ca(2+) cation antiporter (caca) family # TIGRFAMs TIGR00367 TIGR00367 # TIGRFAMs TIGR00927 2A1904 # TISSUE SPECIFICITY Expressed in the retina, particularly in the inner segment, outer and inner nuclear layers, and ganglion cell layer. {ECO:0000269|PubMed 20850105}. # UCSC uc010ujf human. [O60721-1] # eggNOG ENOG410Y9YY LUCA # eggNOG KOG1307 Eukaryota BLAST swissprot:NCKX1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:NCKX1_HUMAN BioCyc ZFISH:ENSG00000074621-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000074621-MONOMER COXPRESdb 9187 http://coxpresdb.jp/data/gene/9187.shtml CleanEx HS_SLC24A1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC24A1 DOI 10.1007/s004390050842 http://dx.doi.org/10.1007/s004390050842 DOI 10.1016/j.ajhg.2010.08.013 http://dx.doi.org/10.1016/j.ajhg.2010.08.013 DOI 10.1038/nature04601 http://dx.doi.org/10.1038/nature04601 DOI 10.1074/jbc.274.53.38177 http://dx.doi.org/10.1074/jbc.274.53.38177 DOI 10.1093/dnares/5.3.169 http://dx.doi.org/10.1093/dnares/5.3.169 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/scisignal.2000007 http://dx.doi.org/10.1126/scisignal.2000007 EMBL AB014602 http://www.ebi.ac.uk/ena/data/view/AB014602 EMBL AC011939 http://www.ebi.ac.uk/ena/data/view/AC011939 EMBL AC027220 http://www.ebi.ac.uk/ena/data/view/AC027220 EMBL AF026132 http://www.ebi.ac.uk/ena/data/view/AF026132 EMBL AF062921 http://www.ebi.ac.uk/ena/data/view/AF062921 EMBL AF062922 http://www.ebi.ac.uk/ena/data/view/AF062922 EMBL BC117263 http://www.ebi.ac.uk/ena/data/view/BC117263 EMBL BC143375 http://www.ebi.ac.uk/ena/data/view/BC143375 Ensembl ENST00000261892 http://www.ensembl.org/id/ENST00000261892 Ensembl ENST00000339868 http://www.ensembl.org/id/ENST00000339868 Ensembl ENST00000399033 http://www.ensembl.org/id/ENST00000399033 Ensembl ENST00000546330 http://www.ensembl.org/id/ENST00000546330 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0019867 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019867 GO_function GO:0005262 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005262 GO_function GO:0005509 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005509 GO_function GO:0008273 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008273 GO_function GO:0015293 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015293 GO_function GO:0030955 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030955 GO_function GO:0031402 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031402 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0006811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006811 GO_process GO:0006816 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006816 GO_process GO:0006874 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006874 GO_process GO:0007601 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007601 GO_process GO:0009642 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009642 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GeneCards SLC24A1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC24A1 GeneID 9187 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=9187 GeneTree ENSGT00760000119209 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119209 HGNC HGNC:10975 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10975 HOGENOM HOG000231933 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231933&db=HOGENOM6 HOVERGEN HBG104097 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG104097&db=HOVERGEN HPA HPA039370 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA039370 InParanoid O60721 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O60721 IntAct O60721 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O60721* InterPro IPR004481 http://www.ebi.ac.uk/interpro/entry/IPR004481 InterPro IPR004817 http://www.ebi.ac.uk/interpro/entry/IPR004817 InterPro IPR004837 http://www.ebi.ac.uk/interpro/entry/IPR004837 Jabion 9187 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=9187 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Disease H00787 http://www.genome.jp/dbget-bin/www_bget?H00787 KEGG_Gene hsa:9187 http://www.genome.jp/dbget-bin/www_bget?hsa:9187 KEGG_Orthology KO:K13749 http://www.genome.jp/dbget-bin/www_bget?KO:K13749 KEGG_Pathway ko04744 http://www.genome.jp/kegg-bin/show_pathway?ko04744 MIM 603617 http://www.ncbi.nlm.nih.gov/omim/603617 MIM 613830 http://www.ncbi.nlm.nih.gov/omim/613830 OMA DQKENPG http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=DQKENPG Orphanet 215 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=215 OrthoDB EOG091G0M5C http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0M5C PANTHER PTHR10846 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10846 PSORT swissprot:NCKX1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:NCKX1_HUMAN PSORT-B swissprot:NCKX1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:NCKX1_HUMAN PSORT2 swissprot:NCKX1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:NCKX1_HUMAN Pfam PF01699 http://pfam.xfam.org/family/PF01699 PharmGKB PA35851 http://www.pharmgkb.org/do/serve?objId=PA35851&objCls=Gene Phobius swissprot:NCKX1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:NCKX1_HUMAN PhylomeDB O60721 http://phylomedb.org/?seqid=O60721 ProteinModelPortal O60721 http://www.proteinmodelportal.org/query/uniprot/O60721 PubMed 10608890 http://www.ncbi.nlm.nih.gov/pubmed/10608890 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16572171 http://www.ncbi.nlm.nih.gov/pubmed/16572171 PubMed 19690332 http://www.ncbi.nlm.nih.gov/pubmed/19690332 PubMed 20850105 http://www.ncbi.nlm.nih.gov/pubmed/20850105 PubMed 9478004 http://www.ncbi.nlm.nih.gov/pubmed/9478004 PubMed 9734811 http://www.ncbi.nlm.nih.gov/pubmed/9734811 PubMed 9856482 http://www.ncbi.nlm.nih.gov/pubmed/9856482 Reactome R-HSA-2485179 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2485179 Reactome R-HSA-425561 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-425561 RefSeq NP_001287960 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001287960 RefSeq NP_001287961 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001287961 RefSeq NP_001287962 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001287962 RefSeq NP_004718 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004718 RefSeq XP_005254835 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005254835 RefSeq XP_011520521 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011520521 RefSeq XP_011520522 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011520522 RefSeq XP_011520523 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011520523 SMR O60721 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=O60721 STRING 9606.ENSP00000261892 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000261892&targetmode=cogs TCDB 2.A.19.4 http://www.tcdb.org/search/result.php?tc=2.A.19.4 TIGRFAMs TIGR00367 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00367 TIGRFAMs TIGR00927 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00927 UCSC uc010ujf http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc010ujf&org=rat UniGene Hs.173092 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.173092 UniGene Hs.617821 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.617821 UniProtKB NCKX1_HUMAN http://www.uniprot.org/uniprot/NCKX1_HUMAN UniProtKB-AC O60721 http://www.uniprot.org/uniprot/O60721 charge swissprot:NCKX1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:NCKX1_HUMAN eggNOG ENOG410Y9YY http://eggnogapi.embl.de/nog_data/html/tree/ENOG410Y9YY eggNOG KOG1307 http://eggnogapi.embl.de/nog_data/html/tree/KOG1307 epestfind swissprot:NCKX1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:NCKX1_HUMAN garnier swissprot:NCKX1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:NCKX1_HUMAN helixturnhelix swissprot:NCKX1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:NCKX1_HUMAN hmoment swissprot:NCKX1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:NCKX1_HUMAN iep swissprot:NCKX1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:NCKX1_HUMAN inforesidue swissprot:NCKX1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:NCKX1_HUMAN neXtProt NX_O60721 http://www.nextprot.org/db/entry/NX_O60721 octanol swissprot:NCKX1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:NCKX1_HUMAN pepcoil swissprot:NCKX1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:NCKX1_HUMAN pepdigest swissprot:NCKX1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:NCKX1_HUMAN pepinfo swissprot:NCKX1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:NCKX1_HUMAN pepnet swissprot:NCKX1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:NCKX1_HUMAN pepstats swissprot:NCKX1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:NCKX1_HUMAN pepwheel swissprot:NCKX1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:NCKX1_HUMAN pepwindow swissprot:NCKX1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:NCKX1_HUMAN sigcleave swissprot:NCKX1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:NCKX1_HUMAN ## Database ID URL or Descriptions # AltName MOT3_HUMAN Solute carrier family 16 member 8 # BioGrid 117083 2 # CDD cd06174 MFS # DrugBank DB00119 Pyruvic acid # Ensembl ENST00000320521 ENSP00000321735; ENSG00000100156 # ExpressionAtlas O95907 baseline and differential # FUNCTION MOT3_HUMAN Proton-linked monocarboxylate transporter. Catalyzes the rapid transport across the plasma membrane of many monocarboxylates such as lactate, pyruvate, branched-chain oxo acids derived from leucine, valine and isoleucine, and the ketone bodies acetoacetate, beta-hydroxybutyrate and acetate (By similarity). {ECO 0000250}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0016020 membrane; TAS:ProtInc. # GO_function GO:0008028 monocarboxylic acid transmembrane transporter activity; TAS:Reactome. # GO_function GO:0015129 lactate transmembrane transporter activity; EXP:Reactome. # GO_function GO:0015293 symporter activity; IEA:UniProtKB-KW. # GO_process GO:0006090 pyruvate metabolic process; TAS:Reactome. # GO_process GO:0015727 lactate transport; TAS:ProtInc. # GO_process GO:0035879 plasma membrane lactate transport; IBA:GO_Central. # GO_process GO:0050900 leukocyte migration; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0002376 immune system process # GOslim_process GO:0006810 transport # GOslim_process GO:0044281 small molecule metabolic process # GOslim_process GO:0048870 cell motility # GOslim_process GO:0055085 transmembrane transport # Genevisible O95907 HS # HGNC HGNC:16270 SLC16A8 # IntAct O95907 2 # InterPro IPR004743 MCT # InterPro IPR011701 MFS # InterPro IPR020846 MFS_dom # InterPro IPR030759 MCT3 # KEGG_Brite ko02000 Transporters # KEGG_Brite ko02001 Solute carrier family # MIM 610409 gene # Organism MOT3_HUMAN Homo sapiens (Human) # PANTHER PTHR11360:SF26 PTHR11360:SF26 # PROSITE PS50850 MFS # Pfam PF07690 MFS_1 # Proteomes UP000005640 Chromosome 22 # Reactome R-HSA-210991 Basigin interactions # Reactome R-HSA-433692 Proton-coupled monocarboxylate transport # Reactome R-HSA-70268 Pyruvate metabolism # RecName MOT3_HUMAN Monocarboxylate transporter 3 # RefSeq NP_037488 NM_013356.2 # RefSeq XP_016884174 XM_017028685.1 # SIMILARITY Belongs to the major facilitator superfamily. Monocarboxylate porter (TC 2.A.1.13) family. {ECO 0000305}. # SUBCELLULAR LOCATION MOT3_HUMAN Cell membrane; Multi-pass membrane protein. # SUPFAM SSF103473 SSF103473 # TCDB 2.A.1.13 the major facilitator superfamily (mfs) # TIGRFAMs TIGR00892 2A0113 # TISSUE SPECIFICITY MOT3_HUMAN Retinal pigment epithelium. # UCSC uc003auu human # eggNOG COG0477 LUCA # eggNOG KOG2504 Eukaryota BLAST swissprot:MOT3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:MOT3_HUMAN BioCyc ZFISH:ENSG00000100156-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000100156-MONOMER COXPRESdb 23539 http://coxpresdb.jp/data/gene/23539.shtml CleanEx HS_SLC16A8 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC16A8 DOI 10.1006/geno.1999.5926 http://dx.doi.org/10.1006/geno.1999.5926 DOI 10.1038/990031 http://dx.doi.org/10.1038/990031 DrugBank DB00119 http://www.drugbank.ca/drugs/DB00119 EMBL AF132610 http://www.ebi.ac.uk/ena/data/view/AF132610 EMBL AF132611 http://www.ebi.ac.uk/ena/data/view/AF132611 EMBL AL031587 http://www.ebi.ac.uk/ena/data/view/AL031587 Ensembl ENST00000320521 http://www.ensembl.org/id/ENST00000320521 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_function GO:0008028 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008028 GO_function GO:0015129 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015129 GO_function GO:0015293 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015293 GO_process GO:0006090 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006090 GO_process GO:0015727 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015727 GO_process GO:0035879 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035879 GO_process GO:0050900 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050900 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0002376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002376 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GOslim_process GO:0048870 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048870 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC16A8 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC16A8 GeneID 23539 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=23539 GeneTree ENSGT00760000118926 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118926 H-InvDB HIX0041123 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0041123 HGNC HGNC:16270 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:16270 HOGENOM HOG000280688 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000280688&db=HOGENOM6 HOVERGEN HBG006384 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG006384&db=HOVERGEN HPA CAB010251 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB010251 InParanoid O95907 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O95907 IntAct O95907 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O95907* InterPro IPR004743 http://www.ebi.ac.uk/interpro/entry/IPR004743 InterPro IPR011701 http://www.ebi.ac.uk/interpro/entry/IPR011701 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 InterPro IPR030759 http://www.ebi.ac.uk/interpro/entry/IPR030759 Jabion 23539 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=23539 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:23539 http://www.genome.jp/dbget-bin/www_bget?hsa:23539 KEGG_Orthology KO:K08185 http://www.genome.jp/dbget-bin/www_bget?KO:K08185 MIM 610409 http://www.ncbi.nlm.nih.gov/omim/610409 MINT MINT-1429542 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1429542 OMA VCTDRAF http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=VCTDRAF OrthoDB EOG091G05SW http://cegg.unige.ch/orthodb/results?searchtext=EOG091G05SW PANTHER PTHR11360:SF26 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11360:SF26 PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PSORT swissprot:MOT3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:MOT3_HUMAN PSORT-B swissprot:MOT3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:MOT3_HUMAN PSORT2 swissprot:MOT3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:MOT3_HUMAN Pfam PF07690 http://pfam.xfam.org/family/PF07690 PharmGKB PA38106 http://www.pharmgkb.org/do/serve?objId=PA38106&objCls=Gene Phobius swissprot:MOT3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:MOT3_HUMAN PhylomeDB O95907 http://phylomedb.org/?seqid=O95907 ProteinModelPortal O95907 http://www.proteinmodelportal.org/query/uniprot/O95907 PubMed 10493836 http://www.ncbi.nlm.nih.gov/pubmed/10493836 PubMed 10591208 http://www.ncbi.nlm.nih.gov/pubmed/10591208 Reactome R-HSA-210991 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-210991 Reactome R-HSA-433692 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-433692 Reactome R-HSA-70268 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-70268 RefSeq NP_037488 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_037488 RefSeq XP_016884174 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016884174 STRING 9606.ENSP00000321735 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000321735&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.1.13 http://www.tcdb.org/search/result.php?tc=2.A.1.13 TIGRFAMs TIGR00892 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00892 UCSC uc003auu http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003auu&org=rat UniGene Hs.745256 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.745256 UniProtKB MOT3_HUMAN http://www.uniprot.org/uniprot/MOT3_HUMAN UniProtKB-AC O95907 http://www.uniprot.org/uniprot/O95907 charge swissprot:MOT3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:MOT3_HUMAN eggNOG COG0477 http://eggnogapi.embl.de/nog_data/html/tree/COG0477 eggNOG KOG2504 http://eggnogapi.embl.de/nog_data/html/tree/KOG2504 epestfind swissprot:MOT3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:MOT3_HUMAN garnier swissprot:MOT3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:MOT3_HUMAN helixturnhelix swissprot:MOT3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:MOT3_HUMAN hmoment swissprot:MOT3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:MOT3_HUMAN iep swissprot:MOT3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:MOT3_HUMAN inforesidue swissprot:MOT3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:MOT3_HUMAN neXtProt NX_O95907 http://www.nextprot.org/db/entry/NX_O95907 octanol swissprot:MOT3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:MOT3_HUMAN pepcoil swissprot:MOT3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:MOT3_HUMAN pepdigest swissprot:MOT3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:MOT3_HUMAN pepinfo swissprot:MOT3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:MOT3_HUMAN pepnet swissprot:MOT3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:MOT3_HUMAN pepstats swissprot:MOT3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:MOT3_HUMAN pepwheel swissprot:MOT3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:MOT3_HUMAN pepwindow swissprot:MOT3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:MOT3_HUMAN sigcleave swissprot:MOT3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:MOT3_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS SO5A1_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9H2Y9-1; Sequence=Displayed; Name=2; IsoId=Q9H2Y9-2; Sequence=VSP_045498; Note=No experimental confirmation available.; Name=3; IsoId=Q9H2Y9-3; Sequence=VSP_045499, VSP_045500; Note=No experimental confirmation available.; # AltName SO5A1_HUMAN Organic anion transporter polypeptide-related protein 4 # AltName SO5A1_HUMAN Solute carrier family 21 member 15 # CCDS CCDS55242 -. [Q9H2Y9-2] # CCDS CCDS55243 -. [Q9H2Y9-3] # CCDS CCDS6205 -. [Q9H2Y9-1] # CDD cd06174 MFS # Ensembl ENST00000260126 ENSP00000260126; ENSG00000137571. [Q9H2Y9-1] # Ensembl ENST00000524945 ENSP00000434422; ENSG00000137571. [Q9H2Y9-3] # Ensembl ENST00000530307 ENSP00000431611; ENSG00000137571. [Q9H2Y9-2] # ExpressionAtlas Q9H2Y9 baseline and differential # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_function GO:0015347 sodium-independent organic anion transmembrane transporter activity; IBA:GO_Central. # GO_process GO:0043252 sodium-independent organic anion transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # Genevisible Q9H2Y9 HS # HGNC HGNC:19046 SLCO5A1 # InterPro IPR002350 Kazal_dom # InterPro IPR004156 OA_transporter # InterPro IPR020846 MFS_dom # KEGG_Brite ko02001 Solute carrier family # MIM 613543 gene # Organism SO5A1_HUMAN Homo sapiens (Human) # PANTHER PTHR11388 PTHR11388; 2 # PROSITE PS50850 MFS # PROSITE PS51465 KAZAL_2 # Pfam PF03137 OATP # Pfam PF07648 Kazal_2 # Proteomes UP000005640 Chromosome 8 # RecName SO5A1_HUMAN Solute carrier organic anion transporter family member 5A1 # RefSeq NP_001139480 NM_001146008.1. [Q9H2Y9-3] # RefSeq NP_001139481 NM_001146009.1. [Q9H2Y9-2] # RefSeq NP_112220 NM_030958.2. [Q9H2Y9-1] # RefSeq XP_005251370 XM_005251313.2. [Q9H2Y9-2] # RefSeq XP_016869372 XM_017013883.1. [Q9H2Y9-3] # SIMILARITY Belongs to the organo anion transporter (TC 2.A.60) family. {ECO 0000305}. # SIMILARITY Contains 1 Kazal-like domain. {ECO:0000255|PROSITE- ProRule PRU00798}. # SUBCELLULAR LOCATION SO5A1_HUMAN Cell membrane; Multi-pass membrane protein. # SUPFAM SSF103473 SSF103473; 4 # TCDB 2.A.60.1.16 the organo anion transporter (oat) family # TIGRFAMs TIGR00805 oat # UCSC uc003xyk human. [Q9H2Y9-1] # eggNOG ENOG410XRSF LUCA # eggNOG KOG3626 Eukaryota BLAST swissprot:SO5A1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SO5A1_HUMAN BioCyc ZFISH:ENSG00000137571-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000137571-MONOMER COXPRESdb 81796 http://coxpresdb.jp/data/gene/81796.shtml CleanEx HS_SLCO5A1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLCO5A1 DOI 10.1038/nature04406 http://dx.doi.org/10.1038/nature04406 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AC024680 http://www.ebi.ac.uk/ena/data/view/AC024680 EMBL AC079089 http://www.ebi.ac.uk/ena/data/view/AC079089 EMBL AC091047 http://www.ebi.ac.uk/ena/data/view/AC091047 EMBL AF205075 http://www.ebi.ac.uk/ena/data/view/AF205075 EMBL AK022760 http://www.ebi.ac.uk/ena/data/view/AK022760 EMBL BC137424 http://www.ebi.ac.uk/ena/data/view/BC137424 EMBL BC139755 http://www.ebi.ac.uk/ena/data/view/BC139755 EMBL CH471068 http://www.ebi.ac.uk/ena/data/view/CH471068 EMBL CH471068 http://www.ebi.ac.uk/ena/data/view/CH471068 Ensembl ENST00000260126 http://www.ensembl.org/id/ENST00000260126 Ensembl ENST00000524945 http://www.ensembl.org/id/ENST00000524945 Ensembl ENST00000530307 http://www.ensembl.org/id/ENST00000530307 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0015347 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015347 GO_process GO:0043252 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043252 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GeneCards SLCO5A1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLCO5A1 GeneID 81796 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=81796 GeneTree ENSGT00760000119014 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119014 HGNC HGNC:19046 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:19046 HOGENOM HOG000060097 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000060097&db=HOGENOM6 HOVERGEN HBG069241 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG069241&db=HOVERGEN HPA HPA025062 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA025062 InParanoid Q9H2Y9 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9H2Y9 IntAct Q9H2Y9 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9H2Y9* InterPro IPR002350 http://www.ebi.ac.uk/interpro/entry/IPR002350 InterPro IPR004156 http://www.ebi.ac.uk/interpro/entry/IPR004156 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 81796 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=81796 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:81796 http://www.genome.jp/dbget-bin/www_bget?hsa:81796 KEGG_Orthology KO:K14356 http://www.genome.jp/dbget-bin/www_bget?KO:K14356 MIM 613543 http://www.ncbi.nlm.nih.gov/omim/613543 OMA CFDIGNL http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=CFDIGNL OrthoDB EOG091G02FX http://cegg.unige.ch/orthodb/results?searchtext=EOG091G02FX PANTHER PTHR11388 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11388 PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PROSITE PS51465 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51465 PSORT swissprot:SO5A1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SO5A1_HUMAN PSORT-B swissprot:SO5A1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SO5A1_HUMAN PSORT2 swissprot:SO5A1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SO5A1_HUMAN Pfam PF03137 http://pfam.xfam.org/family/PF03137 Pfam PF07648 http://pfam.xfam.org/family/PF07648 PharmGKB PA134948571 http://www.pharmgkb.org/do/serve?objId=PA134948571&objCls=Gene Phobius swissprot:SO5A1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SO5A1_HUMAN PhylomeDB Q9H2Y9 http://phylomedb.org/?seqid=Q9H2Y9 ProteinModelPortal Q9H2Y9 http://www.proteinmodelportal.org/query/uniprot/Q9H2Y9 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16421571 http://www.ncbi.nlm.nih.gov/pubmed/16421571 RefSeq NP_001139480 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001139480 RefSeq NP_001139481 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001139481 RefSeq NP_112220 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_112220 RefSeq XP_005251370 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005251370 RefSeq XP_016869372 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016869372 STRING 9606.ENSP00000260126 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000260126&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.60.1.16 http://www.tcdb.org/search/result.php?tc=2.A.60.1.16 TIGRFAMs TIGR00805 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00805 UCSC uc003xyk http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003xyk&org=rat UniGene Hs.152460 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.152460 UniGene Hs.443609 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.443609 UniProtKB SO5A1_HUMAN http://www.uniprot.org/uniprot/SO5A1_HUMAN UniProtKB-AC Q9H2Y9 http://www.uniprot.org/uniprot/Q9H2Y9 charge swissprot:SO5A1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SO5A1_HUMAN eggNOG ENOG410XRSF http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XRSF eggNOG KOG3626 http://eggnogapi.embl.de/nog_data/html/tree/KOG3626 epestfind swissprot:SO5A1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SO5A1_HUMAN garnier swissprot:SO5A1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SO5A1_HUMAN helixturnhelix swissprot:SO5A1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SO5A1_HUMAN hmoment swissprot:SO5A1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SO5A1_HUMAN iep swissprot:SO5A1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SO5A1_HUMAN inforesidue swissprot:SO5A1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SO5A1_HUMAN neXtProt NX_Q9H2Y9 http://www.nextprot.org/db/entry/NX_Q9H2Y9 octanol swissprot:SO5A1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SO5A1_HUMAN pepcoil swissprot:SO5A1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SO5A1_HUMAN pepdigest swissprot:SO5A1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SO5A1_HUMAN pepinfo swissprot:SO5A1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SO5A1_HUMAN pepnet swissprot:SO5A1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SO5A1_HUMAN pepstats swissprot:SO5A1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SO5A1_HUMAN pepwheel swissprot:SO5A1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SO5A1_HUMAN pepwindow swissprot:SO5A1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SO5A1_HUMAN sigcleave swissprot:SO5A1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SO5A1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS KCNH8_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96L42-1; Sequence=Displayed; Name=2; IsoId=Q96L42-2; Sequence=VSP_057036, VSP_057037, VSP_057038, VSP_057039; Note=No experimental confirmation available.; # AltName KCNH8_HUMAN ELK1 # AltName KCNH8_HUMAN Ether-a-go-go-like potassium channel 3 # AltName KCNH8_HUMAN Voltage-gated potassium channel subunit Kv12.1 # CCDS CCDS2632 -. [Q96L42-1] # ChiTaRS KCNH8 human # DOMAIN KCNH8_HUMAN The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position. # Ensembl ENST00000328405 ENSP00000328813; ENSG00000183960. [Q96L42-1] # ExpressionAtlas Q96L42 baseline and differential # FUNCTION KCNH8_HUMAN Pore-forming (alpha) subunit of voltage-gated potassium channel. Elicits a slowly activating, outward rectifying current. Channel properties may be modulated by cAMP and subunit assembly. # GO_component GO:0005622 intracellular; IEA:GOC. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_function GO:0000155 phosphorelay sensor kinase activity; IEA:InterPro. # GO_function GO:0005249 voltage-gated potassium channel activity; IBA:GO_Central. # GO_process GO:0042391 regulation of membrane potential; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005622 intracellular # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0016301 kinase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0008150 biological_process # Gene3D 2.60.120.10 -; 1. # Genevisible Q96L42 HS # HGNC HGNC:18864 KCNH8 # InterPro IPR000014 PAS # InterPro IPR000595 cNMP-bd_dom # InterPro IPR000700 PAS-assoc_C # InterPro IPR001610 PAC # InterPro IPR003938 K_chnl_volt-dep_EAG/ELK/ERG # InterPro IPR003950 K_chnl_volt-dep_ELK # InterPro IPR005821 Ion_trans_dom # InterPro IPR014710 RmlC-like_jellyroll # InterPro IPR018490 cNMP-bd-like # KEGG_Brite ko04040 Ion channels # MIM 608260 gene # Organism KCNH8_HUMAN Homo sapiens (Human) # PRINTS PR01463 EAGCHANLFMLY # PRINTS PR01465 ELKCHANNEL # PROSITE PS50042 CNMP_BINDING_3 # PROSITE PS50113 PAC # Pfam PF00027 cNMP_binding # Pfam PF00520 Ion_trans # Pfam PF13426 PAS_9 # Proteomes UP000005640 Chromosome 3 # Reactome R-HSA-1296072 Voltage gated Potassium channels # RecName KCNH8_HUMAN Potassium voltage-gated channel subfamily H member 8 # RefSeq NP_653234 NM_144633.2. [Q96L42-1] # SIMILARITY Belongs to the potassium channel family. H (Eag) (TC 1.A.1.20) subfamily. Kv12.1/KCNH8 sub-subfamily. {ECO 0000305}. # SIMILARITY Contains 1 PAC (PAS-associated C-terminal) domain. {ECO:0000255|PROSITE-ProRule PRU00141}. # SIMILARITY Contains 1 PAS (PER-ARNT-SIM) domain. {ECO 0000305}. # SIMILARITY Contains 1 cyclic nucleotide-binding domain. {ECO:0000255|PROSITE-ProRule PRU00060}. # SMART SM00086 PAC # SMART SM00100 cNMP # SUBCELLULAR LOCATION KCNH8_HUMAN Membrane; Multi-pass membrane protein. # SUBUNIT KCNH8_HUMAN The potassium channel is probably composed of a homo- or heterotetrameric complex of pore-forming alpha subunits that can associate with modulating beta subunits. # SUPFAM SSF51206 SSF51206 # SUPFAM SSF55785 SSF55785 # TIGRFAMs TIGR00229 sensory_box # TISSUE SPECIFICITY Primarily expressed in the nervous system. {ECO:0000269|PubMed 12890647}. # UCSC uc003cbk human. [Q96L42-1] # eggNOG ENOG410XPSE LUCA # eggNOG KOG0498 Eukaryota BLAST swissprot:KCNH8_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCNH8_HUMAN COXPRESdb 131096 http://coxpresdb.jp/data/gene/131096.shtml CleanEx HS_KCNH8 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNH8 DOI 10.1038/nature04728 http://dx.doi.org/10.1038/nature04728 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1089/108705702753520369 http://dx.doi.org/10.1089/108705702753520369 DOI 10.1152/ajpcell.00179.2003 http://dx.doi.org/10.1152/ajpcell.00179.2003 EMBL AB209053 http://www.ebi.ac.uk/ena/data/view/AB209053 EMBL AC015542 http://www.ebi.ac.uk/ena/data/view/AC015542 EMBL AC061958 http://www.ebi.ac.uk/ena/data/view/AC061958 EMBL AC099538 http://www.ebi.ac.uk/ena/data/view/AC099538 EMBL AC116098 http://www.ebi.ac.uk/ena/data/view/AC116098 EMBL AC135452 http://www.ebi.ac.uk/ena/data/view/AC135452 EMBL AC138315 http://www.ebi.ac.uk/ena/data/view/AC138315 EMBL AK294759 http://www.ebi.ac.uk/ena/data/view/AK294759 EMBL AY053503 http://www.ebi.ac.uk/ena/data/view/AY053503 Ensembl ENST00000328405 http://www.ensembl.org/id/ENST00000328405 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005622 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005622 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0000155 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000155 GO_function GO:0005249 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005249 GO_process GO:0042391 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042391 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005622 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005622 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0016301 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016301 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 Gene3D 2.60.120.10 http://www.cathdb.info/version/latest/superfamily/2.60.120.10 GeneCards KCNH8 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNH8 GeneID 131096 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=131096 GeneTree ENSGT00760000118772 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118772 H-InvDB HIX0030767 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0030767 HGNC HGNC:18864 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:18864 HOGENOM HOG000230794 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000230794&db=HOGENOM6 HOVERGEN HBG052232 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052232&db=HOVERGEN InParanoid Q96L42 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q96L42 InterPro IPR000014 http://www.ebi.ac.uk/interpro/entry/IPR000014 InterPro IPR000595 http://www.ebi.ac.uk/interpro/entry/IPR000595 InterPro IPR000700 http://www.ebi.ac.uk/interpro/entry/IPR000700 InterPro IPR001610 http://www.ebi.ac.uk/interpro/entry/IPR001610 InterPro IPR003938 http://www.ebi.ac.uk/interpro/entry/IPR003938 InterPro IPR003950 http://www.ebi.ac.uk/interpro/entry/IPR003950 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR014710 http://www.ebi.ac.uk/interpro/entry/IPR014710 InterPro IPR018490 http://www.ebi.ac.uk/interpro/entry/IPR018490 Jabion 131096 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=131096 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:131096 http://www.genome.jp/dbget-bin/www_bget?hsa:131096 KEGG_Orthology KO:K04911 http://www.genome.jp/dbget-bin/www_bget?KO:K04911 MIM 608260 http://www.ncbi.nlm.nih.gov/omim/608260 OMA NGSSFWC http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=NGSSFWC OrthoDB EOG091G0OXR http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0OXR PRINTS PR01463 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01463 PRINTS PR01465 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01465 PROSITE PS50042 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50042 PROSITE PS50113 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50113 PSORT swissprot:KCNH8_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCNH8_HUMAN PSORT-B swissprot:KCNH8_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCNH8_HUMAN PSORT2 swissprot:KCNH8_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCNH8_HUMAN Pfam PF00027 http://pfam.xfam.org/family/PF00027 Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF13426 http://pfam.xfam.org/family/PF13426 PharmGKB PA38724 http://www.pharmgkb.org/do/serve?objId=PA38724&objCls=Gene Phobius swissprot:KCNH8_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCNH8_HUMAN PhylomeDB Q96L42 http://phylomedb.org/?seqid=Q96L42 ProteinModelPortal Q96L42 http://www.proteinmodelportal.org/query/uniprot/Q96L42 PubMed 11897058 http://www.ncbi.nlm.nih.gov/pubmed/11897058 PubMed 12890647 http://www.ncbi.nlm.nih.gov/pubmed/12890647 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 16641997 http://www.ncbi.nlm.nih.gov/pubmed/16641997 Reactome R-HSA-1296072 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1296072 RefSeq NP_653234 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_653234 SMART SM00086 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00086 SMART SM00100 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00100 SMR Q96L42 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q96L42 STRING 9606.ENSP00000328813 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000328813&targetmode=cogs SUPFAM SSF51206 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF51206 SUPFAM SSF55785 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF55785 TIGRFAMs TIGR00229 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00229 UCSC uc003cbk http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003cbk&org=rat UniGene Hs.475656 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.475656 UniProtKB KCNH8_HUMAN http://www.uniprot.org/uniprot/KCNH8_HUMAN UniProtKB-AC Q96L42 http://www.uniprot.org/uniprot/Q96L42 charge swissprot:KCNH8_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCNH8_HUMAN eggNOG ENOG410XPSE http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XPSE eggNOG KOG0498 http://eggnogapi.embl.de/nog_data/html/tree/KOG0498 epestfind swissprot:KCNH8_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCNH8_HUMAN garnier swissprot:KCNH8_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCNH8_HUMAN helixturnhelix swissprot:KCNH8_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCNH8_HUMAN hmoment swissprot:KCNH8_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCNH8_HUMAN iep swissprot:KCNH8_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCNH8_HUMAN inforesidue swissprot:KCNH8_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCNH8_HUMAN neXtProt NX_Q96L42 http://www.nextprot.org/db/entry/NX_Q96L42 octanol swissprot:KCNH8_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCNH8_HUMAN pepcoil swissprot:KCNH8_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCNH8_HUMAN pepdigest swissprot:KCNH8_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCNH8_HUMAN pepinfo swissprot:KCNH8_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCNH8_HUMAN pepnet swissprot:KCNH8_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCNH8_HUMAN pepstats swissprot:KCNH8_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCNH8_HUMAN pepwheel swissprot:KCNH8_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCNH8_HUMAN pepwindow swissprot:KCNH8_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCNH8_HUMAN sigcleave swissprot:KCNH8_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCNH8_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS Event=Alternative splicing; Named isoforms=5; Name=1; Synonyms=GRM7_v1, mGluR7a; IsoId=Q14831-1; Sequence=Displayed; Name=2; Synonyms=GRM7_v2, mGluR7b; IsoId=Q14831-2; Sequence=VSP_015735; Name=3; Synonyms=GRM7_v3; IsoId=Q14831-3; Sequence=VSP_015732; Note=Ref.4 (AAM47557) sequence differs from that shown due to a frameshift in position 904. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. {ECO 0000305}; Name=4; Synonyms=GRM7_v4; IsoId=Q14831-4; Sequence=VSP_015733; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=5; Synonyms=GRM7_v5; IsoId=Q14831-5; Sequence=VSP_015734; # BioGrid 109174 5 # CCDS CCDS43042 -. [Q14831-1] # ChiTaRS GRM7 human # Ensembl ENST00000357716 ENSP00000350348; ENSG00000196277. [Q14831-1] # Ensembl ENST00000389335 ENSP00000373986; ENSG00000196277. [Q14831-4] # Ensembl ENST00000389336 ENSP00000373987; ENSG00000196277. [Q14831-5] # Ensembl ENST00000467425 ENSP00000419835; ENSG00000196277. [Q14831-2] # Ensembl ENST00000486284 ENSP00000417536; ENSG00000196277. [Q14831-2] # ExpressionAtlas Q14831 baseline and differential # FUNCTION GRM7_HUMAN G-protein coupled receptor for glutamate. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Signaling inhibits adenylate cyclase activity. {ECO 0000269|PubMed 9473604}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; NAS:UniProtKB. # GO_component GO:0005938 cell cortex; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; IDA:UniProtKB. # GO_component GO:0030424 axon; ISS:UniProtKB. # GO_component GO:0030425 dendrite; IDA:UniProtKB. # GO_component GO:0032279 asymmetric synapse; ISS:UniProtKB. # GO_component GO:0042734 presynaptic membrane; IBA:GO_Central. # GO_component GO:0043198 dendritic shaft; ISS:UniProtKB. # GO_component GO:0043235 receptor complex; IDA:MGI. # GO_component GO:0045211 postsynaptic membrane; ISS:UniProtKB. # GO_component GO:0048786 presynaptic active zone; ISS:UniProtKB. # GO_function GO:0001642 group III metabotropic glutamate receptor activity; IDA:UniProtKB. # GO_function GO:0005245 voltage-gated calcium channel activity; IEA:Ensembl. # GO_function GO:0005246 calcium channel regulator activity; IBA:GO_Central. # GO_function GO:0005509 calcium ion binding; IDA:UniProtKB. # GO_function GO:0008066 glutamate receptor activity; IDA:UniProtKB. # GO_function GO:0010855 adenylate cyclase inhibitor activity; IDA:UniProtKB. # GO_function GO:0016595 glutamate binding; IDA:UniProtKB. # GO_function GO:0030165 PDZ domain binding; NAS:UniProtKB. # GO_function GO:0070905 serine binding; IDA:UniProtKB. # GO_process GO:0001661 conditioned taste aversion; IEA:Ensembl. # GO_process GO:0007194 negative regulation of adenylate cyclase activity; IDA:UniProtKB. # GO_process GO:0007196 adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway; IDA:UniProtKB. # GO_process GO:0007268 chemical synaptic transmission; IDA:UniProtKB. # GO_process GO:0007605 sensory perception of sound; IMP:UniProtKB. # GO_process GO:0007608 sensory perception of smell; IEA:UniProtKB-KW. # GO_process GO:0007614 short-term memory; IEA:Ensembl. # GO_process GO:0014050 negative regulation of glutamate secretion; ISS:UniProtKB. # GO_process GO:0019226 transmission of nerve impulse; IEA:Ensembl. # GO_process GO:0030534 adult behavior; IEA:Ensembl. # GO_process GO:0030818 negative regulation of cAMP biosynthetic process; IDA:UniProtKB. # GO_process GO:0033555 multicellular organismal response to stress; IEA:Ensembl. # GO_process GO:0051966 regulation of synaptic transmission, glutamatergic; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0030234 enzyme regulator activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # GOslim_process GO:0050877 neurological system process # Genevisible Q14831 HS # HGNC HGNC:4599 GRM7 # InterPro IPR000162 GPCR_3_mtglu_rcpt # InterPro IPR000337 GPCR_3 # InterPro IPR001828 ANF_lig-bd_rcpt # InterPro IPR001883 GPCR_3_mtglu_rcpt_7 # InterPro IPR011500 GPCR_3_9-Cys_dom # InterPro IPR017978 GPCR_3_C # InterPro IPR017979 GPCR_3_CS # InterPro IPR028082 Peripla_BP_I # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04030 G protein-coupled receptors # KEGG_Pathway ko04080 Neuroactive ligand-receptor interaction # KEGG_Pathway ko04724 Glutamatergic synapse # MIM 604101 gene # Organism GRM7_HUMAN Homo sapiens (Human) # PDB 3MQ4 X-ray; 2.80 A; A=37-513 # PDB 5C5C X-ray; 1.86 A; A=37-513 # PRINTS PR00248 GPCRMGR # PRINTS PR00593 MTABOTROPICR # PRINTS PR01057 MTABOTROPC7R # PROSITE PS00979 G_PROTEIN_RECEP_F3_1 # PROSITE PS00980 G_PROTEIN_RECEP_F3_2 # PROSITE PS00981 G_PROTEIN_RECEP_F3_3 # PROSITE PS50259 G_PROTEIN_RECEP_F3_4 # Pfam PF00003 7tm_3 # Pfam PF01094 ANF_receptor # Pfam PF07562 NCD3G # Proteomes UP000005640 Chromosome 3 # Reactome R-HSA-418594 G alpha (i) signalling events # Reactome R-HSA-420499 Class C/3 (Metabotropic glutamate/pheromone receptors) # RecName GRM7_HUMAN Metabotropic glutamate receptor 7 # RefSeq NP_000835 NM_000844.3. [Q14831-1] # RefSeq NP_870989 NM_181874.2. [Q14831-2] # SIMILARITY Belongs to the G-protein coupled receptor 3 family. {ECO 0000305}. # SUBCELLULAR LOCATION GRM7_HUMAN Cell membrane; Multi-pass membrane protein. # SUBUNIT Interacts with PICK1. {ECO 0000250}. # SUPFAM SSF53822 SSF53822 # TISSUE SPECIFICITY GRM7_HUMAN Expressed in many areas of the brain, especially in the cerebral cortex, hippocampus, and cerebellum. Expression of GRM7 isoforms in non-neuronal tissues appears to be restricted to isoform 3 and isoform 4. {ECO 0000269|PubMed 12052533, ECO 0000269|PubMed 8840028}. # UCSC uc003bql human. [Q14831-1] # eggNOG ENOG410XR6W LUCA # eggNOG KOG1056 Eukaryota BLAST swissprot:GRM7_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:GRM7_HUMAN BioCyc ZFISH:G66-33332-MONOMER http://biocyc.org/getid?id=ZFISH:G66-33332-MONOMER COXPRESdb 2917 http://coxpresdb.jp/data/gene/2917.shtml CleanEx HS_GRM7 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_GRM7 DOI 10.1016/0169-328X(96)00110-6 http://dx.doi.org/10.1016/0169-328X(96)00110-6 DOI 10.1016/S0028-3908(96)00176-1 http://dx.doi.org/10.1016/S0028-3908(96)00176-1 DOI 10.1016/S0169-328X(97)00277-5 http://dx.doi.org/10.1016/S0169-328X(97)00277-5 DOI 10.1016/S0304-3940(02)00306-3 http://dx.doi.org/10.1016/S0304-3940(02)00306-3 DOI 10.1016/S0920-9964(99)00235-2 http://dx.doi.org/10.1016/S0920-9964(99)00235-2 EMBL AF458052 http://www.ebi.ac.uk/ena/data/view/AF458052 EMBL AF458053 http://www.ebi.ac.uk/ena/data/view/AF458053 EMBL AF458054 http://www.ebi.ac.uk/ena/data/view/AF458054 EMBL U92458 http://www.ebi.ac.uk/ena/data/view/U92458 EMBL X94552 http://www.ebi.ac.uk/ena/data/view/X94552 Ensembl ENST00000357716 http://www.ensembl.org/id/ENST00000357716 Ensembl ENST00000389335 http://www.ensembl.org/id/ENST00000389335 Ensembl ENST00000389336 http://www.ensembl.org/id/ENST00000389336 Ensembl ENST00000467425 http://www.ensembl.org/id/ENST00000467425 Ensembl ENST00000486284 http://www.ensembl.org/id/ENST00000486284 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0005938 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005938 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0030424 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030424 GO_component GO:0030425 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030425 GO_component GO:0032279 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032279 GO_component GO:0042734 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042734 GO_component GO:0043198 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043198 GO_component GO:0043235 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043235 GO_component GO:0045211 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045211 GO_component GO:0048786 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048786 GO_function GO:0001642 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001642 GO_function GO:0005245 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005245 GO_function GO:0005246 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005246 GO_function GO:0005509 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005509 GO_function GO:0008066 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008066 GO_function GO:0010855 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010855 GO_function GO:0016595 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016595 GO_function GO:0030165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030165 GO_function GO:0070905 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070905 GO_process GO:0001661 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001661 GO_process GO:0007194 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007194 GO_process GO:0007196 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007196 GO_process GO:0007268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007268 GO_process GO:0007605 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007605 GO_process GO:0007608 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007608 GO_process GO:0007614 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007614 GO_process GO:0014050 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014050 GO_process GO:0019226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019226 GO_process GO:0030534 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030534 GO_process GO:0030818 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030818 GO_process GO:0033555 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033555 GO_process GO:0051966 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051966 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0030234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030234 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GeneCards GRM7 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=GRM7 GeneID 2917 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=2917 GeneTree ENSGT00760000118884 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118884 HGNC HGNC:4599 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:4599 HOGENOM HOG000218635 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000218635&db=HOGENOM6 HOVERGEN HBG107965 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG107965&db=HOVERGEN HPA HPA015964 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA015964 HPA HPA036659 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA036659 InParanoid Q14831 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q14831 InterPro IPR000162 http://www.ebi.ac.uk/interpro/entry/IPR000162 InterPro IPR000337 http://www.ebi.ac.uk/interpro/entry/IPR000337 InterPro IPR001828 http://www.ebi.ac.uk/interpro/entry/IPR001828 InterPro IPR001883 http://www.ebi.ac.uk/interpro/entry/IPR001883 InterPro IPR011500 http://www.ebi.ac.uk/interpro/entry/IPR011500 InterPro IPR017978 http://www.ebi.ac.uk/interpro/entry/IPR017978 InterPro IPR017979 http://www.ebi.ac.uk/interpro/entry/IPR017979 InterPro IPR028082 http://www.ebi.ac.uk/interpro/entry/IPR028082 Jabion 2917 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=2917 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04030 http://www.genome.jp/dbget-bin/www_bget?ko04030 KEGG_Gene hsa:2917 http://www.genome.jp/dbget-bin/www_bget?hsa:2917 KEGG_Orthology KO:K04608 http://www.genome.jp/dbget-bin/www_bget?KO:K04608 KEGG_Pathway ko04080 http://www.genome.jp/kegg-bin/show_pathway?ko04080 KEGG_Pathway ko04724 http://www.genome.jp/kegg-bin/show_pathway?ko04724 MIM 604101 http://www.ncbi.nlm.nih.gov/omim/604101 OMA RTGCRSI http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=RTGCRSI OrthoDB EOG091G177R http://cegg.unige.ch/orthodb/results?searchtext=EOG091G177R PDB 3MQ4 http://www.ebi.ac.uk/pdbe-srv/view/entry/3MQ4 PDB 5C5C http://www.ebi.ac.uk/pdbe-srv/view/entry/5C5C PDBsum 3MQ4 http://www.ebi.ac.uk/pdbsum/3MQ4 PDBsum 5C5C http://www.ebi.ac.uk/pdbsum/5C5C PRINTS PR00248 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00248 PRINTS PR00593 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00593 PRINTS PR01057 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01057 PROSITE PS00979 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00979 PROSITE PS00980 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00980 PROSITE PS00981 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00981 PROSITE PS50259 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50259 PSORT swissprot:GRM7_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:GRM7_HUMAN PSORT-B swissprot:GRM7_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:GRM7_HUMAN PSORT2 swissprot:GRM7_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:GRM7_HUMAN Pfam PF00003 http://pfam.xfam.org/family/PF00003 Pfam PF01094 http://pfam.xfam.org/family/PF01094 Pfam PF07562 http://pfam.xfam.org/family/PF07562 PharmGKB PA28996 http://www.pharmgkb.org/do/serve?objId=PA28996&objCls=Gene Phobius swissprot:GRM7_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:GRM7_HUMAN PhylomeDB Q14831 http://phylomedb.org/?seqid=Q14831 ProteinModelPortal Q14831 http://www.proteinmodelportal.org/query/uniprot/Q14831 PubMed 11163549 http://www.ncbi.nlm.nih.gov/pubmed/11163549 PubMed 12052533 http://www.ncbi.nlm.nih.gov/pubmed/12052533 PubMed 8840028 http://www.ncbi.nlm.nih.gov/pubmed/8840028 PubMed 9144652 http://www.ncbi.nlm.nih.gov/pubmed/9144652 PubMed 9473604 http://www.ncbi.nlm.nih.gov/pubmed/9473604 Reactome R-HSA-418594 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-418594 Reactome R-HSA-420499 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-420499 RefSeq NP_000835 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000835 RefSeq NP_870989 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_870989 SMR Q14831 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q14831 STRING 9606.ENSP00000350348 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000350348&targetmode=cogs SUPFAM SSF53822 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF53822 UCSC uc003bql http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003bql&org=rat UniGene Hs.606393 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.606393 UniGene Hs.660131 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.660131 UniProtKB GRM7_HUMAN http://www.uniprot.org/uniprot/GRM7_HUMAN UniProtKB-AC Q14831 http://www.uniprot.org/uniprot/Q14831 charge swissprot:GRM7_HUMAN http://rest.g-language.org/emboss/charge/swissprot:GRM7_HUMAN eggNOG ENOG410XR6W http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XR6W eggNOG KOG1056 http://eggnogapi.embl.de/nog_data/html/tree/KOG1056 epestfind swissprot:GRM7_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:GRM7_HUMAN garnier swissprot:GRM7_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:GRM7_HUMAN helixturnhelix swissprot:GRM7_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:GRM7_HUMAN hmoment swissprot:GRM7_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:GRM7_HUMAN iep swissprot:GRM7_HUMAN http://rest.g-language.org/emboss/iep/swissprot:GRM7_HUMAN inforesidue swissprot:GRM7_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:GRM7_HUMAN neXtProt NX_Q14831 http://www.nextprot.org/db/entry/NX_Q14831 octanol swissprot:GRM7_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:GRM7_HUMAN pepcoil swissprot:GRM7_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:GRM7_HUMAN pepdigest swissprot:GRM7_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:GRM7_HUMAN pepinfo swissprot:GRM7_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:GRM7_HUMAN pepnet swissprot:GRM7_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:GRM7_HUMAN pepstats swissprot:GRM7_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:GRM7_HUMAN pepwheel swissprot:GRM7_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:GRM7_HUMAN pepwindow swissprot:GRM7_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:GRM7_HUMAN sigcleave swissprot:GRM7_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:GRM7_HUMAN ## Database ID URL or Descriptions # AltName AQP9_HUMAN Aquaglyceroporin-9 # AltName AQP9_HUMAN Small solute channel 1 # BioGrid 106861 3 # CDD cd00333 MIP # DOMAIN AQP9_HUMAN Aquaporins contain two tandem repeats each containing three membrane-spanning domains and a pore-forming loop with the signature motif Asn-Pro-Ala (NPA). # Ensembl ENST00000219919 ENSP00000219919; ENSG00000103569 # Ensembl ENST00000536493 ENSP00000441390; ENSG00000103569 # ExpressionAtlas O43315 baseline and differential # FUNCTION AQP9_HUMAN Forms a channel with a broad specificity. Mediates passage of a wide variety of non-charged solutes including carbamides, polyols, purines, and pyrimidines in a phloretin- and mercury-sensitive manner, whereas amino acids, cyclic sugars, Na(+), K(+), Cl(-), and deprotonated monocarboxylates are excluded. Also permeable to urea and glycerol. {ECO 0000269|PubMed 10564231}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0016021 integral component of membrane; NAS:UniProtKB. # GO_component GO:0016323 basolateral plasma membrane; IEA:Ensembl. # GO_component GO:0043231 intracellular membrane-bounded organelle; IDA:UniProtKB. # GO_function GO:0005275 amine transmembrane transporter activity; TAS:UniProtKB. # GO_function GO:0005345 purine nucleobase transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0005350 pyrimidine nucleobase transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0005372 water transmembrane transporter activity; TAS:UniProtKB. # GO_function GO:0015166 polyol transmembrane transporter activity; TAS:UniProtKB. # GO_function GO:0015204 urea transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015250 water channel activity; IDA:UniProtKB. # GO_function GO:0015254 glycerol channel activity; EXP:Reactome. # GO_function GO:0015265 urea channel activity; EXP:Reactome. # GO_function GO:0015288 porin activity; NAS:UniProtKB. # GO_function GO:0046943 carboxylic acid transmembrane transporter activity; TAS:UniProtKB. # GO_process GO:0006810 transport; TAS:UniProtKB. # GO_process GO:0006833 water transport; IDA:UniProtKB. # GO_process GO:0006863 purine nucleobase transport; IDA:UniProtKB. # GO_process GO:0006955 immune response; TAS:ProtInc. # GO_process GO:0006970 response to osmotic stress; TAS:UniProtKB. # GO_process GO:0007588 excretion; TAS:UniProtKB. # GO_process GO:0008152 metabolic process; TAS:UniProtKB. # GO_process GO:0009992 cellular water homeostasis; IBA:GO_Central. # GO_process GO:0010033 response to organic substance; IDA:UniProtKB. # GO_process GO:0015722 canalicular bile acid transport; IEA:Ensembl. # GO_process GO:0015791 polyol transport; IDA:UniProtKB. # GO_process GO:0015793 glycerol transport; TAS:Reactome. # GO_process GO:0015837 amine transport; IDA:UniProtKB. # GO_process GO:0015855 pyrimidine nucleobase transport; IDA:UniProtKB. # GO_process GO:0030104 water homeostasis; NAS:UniProtKB. # GO_process GO:0046689 response to mercury ion; IDA:UniProtKB. # GO_process GO:0046942 carboxylic acid transport; TAS:UniProtKB. # GO_process GO:0071320 cellular response to cAMP; IEP:UniProtKB. # GO_process GO:0071918 urea transmembrane transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0002376 immune system process # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.20.1080.10 -; 1. # Genevisible O43315 HS # HGNC HGNC:643 AQP9 # InterPro IPR000425 MIP # InterPro IPR015685 Aquaporin_9 # InterPro IPR022357 MIP_CS # InterPro IPR023271 Aquaporin-like # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04976 Bile secretion # MIM 602914 gene+phenotype # Organism AQP9_HUMAN Homo sapiens (Human) # PANTHER PTHR19139 PTHR19139 # PIR JC5973 JC5973 # PRINTS PR00783 MINTRINSICP # PRINTS PR02021 AQUAPORIN9 # PROSITE PS00221 MIP # Pfam PF00230 MIP # Proteomes UP000005640 Chromosome 15 # Reactome R-HSA-432030 Transport of glycerol from adipocytes to the liver by Aquaporins # Reactome R-HSA-432047 Passive transport by Aquaporins # RecName AQP9_HUMAN Aquaporin-9 # RefSeq NP_066190 NM_020980.4 # SIMILARITY Belongs to the MIP/aquaporin (TC 1.A.8) family. {ECO 0000305}. # SUBCELLULAR LOCATION AQP9_HUMAN Membrane; Multi-pass membrane protein. # SUPFAM SSF81338 SSF81338 # TIGRFAMs TIGR00861 MIP # TISSUE SPECIFICITY AQP9_HUMAN Highly expressed in peripheral leukocytes. Also expressed in liver, lung, and spleen. # UCSC uc002aez human # eggNOG COG0580 LUCA # eggNOG KOG0224 Eukaryota BLAST swissprot:AQP9_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:AQP9_HUMAN BioCyc ZFISH:ENSG00000103569-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000103569-MONOMER COXPRESdb 366 http://coxpresdb.jp/data/gene/366.shtml CleanEx HS_AQP9 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_AQP9 DOI 10.1006/bbrc.1998.8252 http://dx.doi.org/10.1006/bbrc.1998.8252 DOI 10.1038/nature04601 http://dx.doi.org/10.1038/nature04601 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AB008775 http://www.ebi.ac.uk/ena/data/view/AB008775 EMBL AC025431 http://www.ebi.ac.uk/ena/data/view/AC025431 EMBL AC066616 http://www.ebi.ac.uk/ena/data/view/AC066616 EMBL AF016495 http://www.ebi.ac.uk/ena/data/view/AF016495 EMBL AF102870 http://www.ebi.ac.uk/ena/data/view/AF102870 EMBL BC026258 http://www.ebi.ac.uk/ena/data/view/BC026258 Ensembl ENST00000219919 http://www.ensembl.org/id/ENST00000219919 Ensembl ENST00000536493 http://www.ensembl.org/id/ENST00000536493 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0016323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016323 GO_component GO:0043231 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043231 GO_function GO:0005275 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005275 GO_function GO:0005345 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005345 GO_function GO:0005350 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005350 GO_function GO:0005372 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005372 GO_function GO:0015166 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015166 GO_function GO:0015204 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015204 GO_function GO:0015250 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015250 GO_function GO:0015254 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015254 GO_function GO:0015265 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015265 GO_function GO:0015288 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015288 GO_function GO:0046943 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046943 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0006833 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006833 GO_process GO:0006863 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006863 GO_process GO:0006955 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006955 GO_process GO:0006970 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006970 GO_process GO:0007588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007588 GO_process GO:0008152 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008152 GO_process GO:0009992 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009992 GO_process GO:0010033 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010033 GO_process GO:0015722 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015722 GO_process GO:0015791 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015791 GO_process GO:0015793 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015793 GO_process GO:0015837 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015837 GO_process GO:0015855 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015855 GO_process GO:0030104 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030104 GO_process GO:0046689 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046689 GO_process GO:0046942 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046942 GO_process GO:0071320 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071320 GO_process GO:0071918 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071918 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0002376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002376 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.20.1080.10 http://www.cathdb.info/version/latest/superfamily/1.20.1080.10 GeneCards AQP9 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=AQP9 GeneID 366 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=366 GeneTree ENSGT00510000046311 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00510000046311 H-InvDB HIX0012281 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0012281 HGNC HGNC:643 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:643 HOGENOM HOG000288287 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000288287&db=HOGENOM6 HOVERGEN HBG106057 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG106057&db=HOVERGEN InParanoid O43315 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O43315 InterPro IPR000425 http://www.ebi.ac.uk/interpro/entry/IPR000425 InterPro IPR015685 http://www.ebi.ac.uk/interpro/entry/IPR015685 InterPro IPR022357 http://www.ebi.ac.uk/interpro/entry/IPR022357 InterPro IPR023271 http://www.ebi.ac.uk/interpro/entry/IPR023271 Jabion 366 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=366 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:366 http://www.genome.jp/dbget-bin/www_bget?hsa:366 KEGG_Orthology KO:K09877 http://www.genome.jp/dbget-bin/www_bget?KO:K09877 KEGG_Pathway ko04976 http://www.genome.jp/kegg-bin/show_pathway?ko04976 MIM 602914 http://www.ncbi.nlm.nih.gov/omim/602914 OMA WNETKDA http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=WNETKDA OrthoDB EOG091G0FMS http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0FMS PANTHER PTHR19139 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR19139 PRINTS PR00783 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00783 PRINTS PR02021 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR02021 PROSITE PS00221 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00221 PSORT swissprot:AQP9_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:AQP9_HUMAN PSORT-B swissprot:AQP9_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:AQP9_HUMAN PSORT2 swissprot:AQP9_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:AQP9_HUMAN Pfam PF00230 http://pfam.xfam.org/family/PF00230 PharmGKB PA24927 http://www.pharmgkb.org/do/serve?objId=PA24927&objCls=Gene Phobius swissprot:AQP9_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:AQP9_HUMAN PhylomeDB O43315 http://phylomedb.org/?seqid=O43315 ProteinModelPortal O43315 http://www.proteinmodelportal.org/query/uniprot/O43315 PubMed 10564231 http://www.ncbi.nlm.nih.gov/pubmed/10564231 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16572171 http://www.ncbi.nlm.nih.gov/pubmed/16572171 PubMed 9514918 http://www.ncbi.nlm.nih.gov/pubmed/9514918 Reactome R-HSA-432030 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-432030 Reactome R-HSA-432047 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-432047 RefSeq NP_066190 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_066190 SMR O43315 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=O43315 STRING 9606.ENSP00000219919 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000219919&targetmode=cogs SUPFAM SSF81338 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81338 TIGRFAMs TIGR00861 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00861 UCSC uc002aez http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002aez&org=rat UniGene Hs.104624 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.104624 UniProtKB AQP9_HUMAN http://www.uniprot.org/uniprot/AQP9_HUMAN UniProtKB-AC O43315 http://www.uniprot.org/uniprot/O43315 charge swissprot:AQP9_HUMAN http://rest.g-language.org/emboss/charge/swissprot:AQP9_HUMAN eggNOG COG0580 http://eggnogapi.embl.de/nog_data/html/tree/COG0580 eggNOG KOG0224 http://eggnogapi.embl.de/nog_data/html/tree/KOG0224 epestfind swissprot:AQP9_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:AQP9_HUMAN garnier swissprot:AQP9_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:AQP9_HUMAN helixturnhelix swissprot:AQP9_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:AQP9_HUMAN hmoment swissprot:AQP9_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:AQP9_HUMAN iep swissprot:AQP9_HUMAN http://rest.g-language.org/emboss/iep/swissprot:AQP9_HUMAN inforesidue swissprot:AQP9_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:AQP9_HUMAN neXtProt NX_O43315 http://www.nextprot.org/db/entry/NX_O43315 octanol swissprot:AQP9_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:AQP9_HUMAN pepcoil swissprot:AQP9_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:AQP9_HUMAN pepdigest swissprot:AQP9_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:AQP9_HUMAN pepinfo swissprot:AQP9_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:AQP9_HUMAN pepnet swissprot:AQP9_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:AQP9_HUMAN pepstats swissprot:AQP9_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:AQP9_HUMAN pepwheel swissprot:AQP9_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:AQP9_HUMAN pepwindow swissprot:AQP9_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:AQP9_HUMAN sigcleave swissprot:AQP9_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:AQP9_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS B3A2_HUMAN Event=Alternative splicing; Named isoforms=3; Comment=Additional isoforms seem to exist.; Name=A; IsoId=P04920-1; Sequence=Displayed; Name=B1; IsoId=P04920-2; Sequence=VSP_000456; Name=3; IsoId=P04920-3; Sequence=VSP_045953; Note=No experimental confirmation available.; # AltName B3A2_HUMAN Non-erythroid band 3-like protein # AltName B3A2_HUMAN Solute carrier family 4 member 2 # BioGrid 112413 31 # CCDS CCDS56520 -. [P04920-3] # CCDS CCDS56521 -. [P04920-2] # CCDS CCDS5917 -. [P04920-1] # ChiTaRS SLC4A2 human # Ensembl ENST00000392826 ENSP00000376571; ENSG00000164889. [P04920-3] # Ensembl ENST00000413384 ENSP00000405600; ENSG00000164889. [P04920-1] # Ensembl ENST00000461735 ENSP00000419164; ENSG00000164889. [P04920-2] # Ensembl ENST00000485713 ENSP00000419412; ENSG00000164889. [P04920-1] # ExpressionAtlas P04920 baseline and differential # FUNCTION B3A2_HUMAN Plasma membrane anion exchange protein of wide distribution. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0005925 focal adhesion; IDA:UniProtKB. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0016323 basolateral plasma membrane; IEA:Ensembl. # GO_component GO:0016324 apical plasma membrane; IEA:Ensembl. # GO_function B3A2_HUMAN GO 0015301 anion anion antiporter activity; IEA UniProtKB-KW. # GO_function GO:0005452 inorganic anion exchanger activity; TAS:Reactome. # GO_function GO:0008509 anion transmembrane transporter activity; TAS:ProtInc. # GO_process GO:0006820 anion transport; TAS:ProtInc. # GO_process GO:0007283 spermatogenesis; IEA:Ensembl. # GO_process GO:0015701 bicarbonate transport; TAS:Reactome. # GO_process GO:0048565 digestive tract development; IEA:Ensembl. # GO_process GO:0051453 regulation of intracellular pH; IBA:GO_Central. # GO_process GO:1902476 chloride transmembrane transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0055085 transmembrane transport # Gene3D 3.40.1100.10 -; 1. # Genevisible P04920 HS # HGNC HGNC:11028 SLC4A2 # IntAct P04920 17 # InterPro IPR001717 Anion_exchange # InterPro IPR002978 Anion_exchange_2 # InterPro IPR003020 HCO3_transpt_euk # InterPro IPR011531 HCO3_transpt_C # InterPro IPR013769 Band3_cytoplasmic_dom # InterPro IPR016152 PTrfase/Anion_transptr # InterPro IPR018241 Anion_exchange_CS # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02001 Solute carrier family # KEGG_Pathway ko04970 Salivary secretion # KEGG_Pathway ko04971 Gastric acid secretion # KEGG_Pathway ko04972 Pancreatic secretion # KEGG_Pathway ko04976 Bile secretion # MIM 109280 gene # Organism B3A2_HUMAN Homo sapiens (Human) # PANTHER PTHR11453 PTHR11453; 2 # PANTHER PTHR11453:SF14 PTHR11453:SF14; 2 # PIR S21086 S21086 # PRINTS PR00165 ANIONEXCHNGR # PRINTS PR01188 ANIONEXHNGR2 # PRINTS PR01231 HCO3TRNSPORT # PROSITE PS00219 ANION_EXCHANGER_1 # PROSITE PS00220 ANION_EXCHANGER_2 # Pfam PF00955 HCO3_cotransp # Pfam PF07565 Band_3_cyto # Proteomes UP000005640 Chromosome 7 # Reactome R-HSA-425381 Bicarbonate transporters # RecName B3A2_HUMAN Anion exchange protein 2 # RefSeq NP_001186621 NM_001199692.1. [P04920-1] # RefSeq NP_001186622 NM_001199693.1. [P04920-3] # RefSeq NP_001186623 NM_001199694.1. [P04920-2] # RefSeq NP_003031 NM_003040.3. [P04920-1] # SIMILARITY Belongs to the anion exchanger (TC 2.A.31) family. {ECO 0000305}. # SUBCELLULAR LOCATION B3A2_HUMAN Membrane; Multi-pass membrane protein. # SUPFAM SSF55804 SSF55804; 2 # TCDB 2.A.31.1 the anion exchanger (ae) family # TIGRFAMs TIGR00834 ae # UCSC uc003wit human. [P04920-1] # WEB RESOURCE B3A2_HUMAN Name=NIEHS-SNPs; URL="http //egp.gs.washington.edu/data/slc4a2/"; # eggNOG ENOG410XPHD LUCA # eggNOG KOG1172 Eukaryota BLAST swissprot:B3A2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:B3A2_HUMAN BioCyc ZFISH:ENSG00000164889-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000164889-MONOMER COXPRESdb 6522 http://coxpresdb.jp/data/gene/6522.shtml CleanEx HS_SLC4A2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC4A2 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1016/0167-4781(92)90446-7 http://dx.doi.org/10.1016/0167-4781(92)90446-7 DOI 10.1016/j.cell.2006.09.026 http://dx.doi.org/10.1016/j.cell.2006.09.026 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/ac9004309 http://dx.doi.org/10.1021/ac9004309 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature01782 http://dx.doi.org/10.1038/nature01782 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1074/mcp.O113.027870 http://dx.doi.org/10.1074/mcp.O113.027870 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/scisignal.2000007 http://dx.doi.org/10.1126/scisignal.2000007 DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 DOI 10.1126/scisignal.2001570 http://dx.doi.org/10.1126/scisignal.2001570 EMBL AC010973 http://www.ebi.ac.uk/ena/data/view/AC010973 EMBL AK295767 http://www.ebi.ac.uk/ena/data/view/AK295767 EMBL AK312699 http://www.ebi.ac.uk/ena/data/view/AK312699 EMBL BC009386 http://www.ebi.ac.uk/ena/data/view/BC009386 EMBL BC009434 http://www.ebi.ac.uk/ena/data/view/BC009434 EMBL CH471173 http://www.ebi.ac.uk/ena/data/view/CH471173 EMBL CH471173 http://www.ebi.ac.uk/ena/data/view/CH471173 EMBL DQ149844 http://www.ebi.ac.uk/ena/data/view/DQ149844 EMBL X03918 http://www.ebi.ac.uk/ena/data/view/X03918 EMBL X62137 http://www.ebi.ac.uk/ena/data/view/X62137 Ensembl ENST00000392826 http://www.ensembl.org/id/ENST00000392826 Ensembl ENST00000413384 http://www.ensembl.org/id/ENST00000413384 Ensembl ENST00000461735 http://www.ensembl.org/id/ENST00000461735 Ensembl ENST00000485713 http://www.ensembl.org/id/ENST00000485713 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0005925 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005925 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016323 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_function GO:0005452 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005452 GO_function GO:0008509 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008509 GO_function GO:0015301 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015301 GO_process GO:0006820 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006820 GO_process GO:0007283 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007283 GO_process GO:0015701 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015701 GO_process GO:0048565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048565 GO_process GO:0051453 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051453 GO_process GO:1902476 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902476 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 3.40.1100.10 http://www.cathdb.info/version/latest/superfamily/3.40.1100.10 GeneCards SLC4A2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC4A2 GeneID 6522 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6522 GeneTree ENSGT00760000119021 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119021 HGNC HGNC:11028 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11028 HOGENOM HOG000280683 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000280683&db=HOGENOM6 HOVERGEN HBG004326 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG004326&db=HOVERGEN HPA HPA019339 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA019339 InParanoid P04920 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P04920 IntAct P04920 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P04920* InterPro IPR001717 http://www.ebi.ac.uk/interpro/entry/IPR001717 InterPro IPR002978 http://www.ebi.ac.uk/interpro/entry/IPR002978 InterPro IPR003020 http://www.ebi.ac.uk/interpro/entry/IPR003020 InterPro IPR011531 http://www.ebi.ac.uk/interpro/entry/IPR011531 InterPro IPR013769 http://www.ebi.ac.uk/interpro/entry/IPR013769 InterPro IPR016152 http://www.ebi.ac.uk/interpro/entry/IPR016152 InterPro IPR018241 http://www.ebi.ac.uk/interpro/entry/IPR018241 Jabion 6522 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6522 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:6522 http://www.genome.jp/dbget-bin/www_bget?hsa:6522 KEGG_Orthology KO:K13855 http://www.genome.jp/dbget-bin/www_bget?KO:K13855 KEGG_Pathway ko04970 http://www.genome.jp/kegg-bin/show_pathway?ko04970 KEGG_Pathway ko04971 http://www.genome.jp/kegg-bin/show_pathway?ko04971 KEGG_Pathway ko04972 http://www.genome.jp/kegg-bin/show_pathway?ko04972 KEGG_Pathway ko04976 http://www.genome.jp/kegg-bin/show_pathway?ko04976 MIM 109280 http://www.ncbi.nlm.nih.gov/omim/109280 OMA ANEHFHS http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=ANEHFHS OrthoDB EOG091G01FT http://cegg.unige.ch/orthodb/results?searchtext=EOG091G01FT PANTHER PTHR11453 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11453 PANTHER PTHR11453:SF14 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11453:SF14 PRINTS PR00165 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00165 PRINTS PR01188 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01188 PRINTS PR01231 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01231 PROSITE PS00219 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00219 PROSITE PS00220 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00220 PSORT swissprot:B3A2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:B3A2_HUMAN PSORT-B swissprot:B3A2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:B3A2_HUMAN PSORT2 swissprot:B3A2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:B3A2_HUMAN Pfam PF00955 http://pfam.xfam.org/family/PF00955 Pfam PF07565 http://pfam.xfam.org/family/PF07565 PharmGKB PA35896 http://www.pharmgkb.org/do/serve?objId=PA35896&objCls=Gene Phobius swissprot:B3A2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:B3A2_HUMAN PhylomeDB P04920 http://phylomedb.org/?seqid=P04920 ProteinModelPortal P04920 http://www.proteinmodelportal.org/query/uniprot/P04920 PubMed 12853948 http://www.ncbi.nlm.nih.gov/pubmed/12853948 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 1562608 http://www.ncbi.nlm.nih.gov/pubmed/1562608 PubMed 17081983 http://www.ncbi.nlm.nih.gov/pubmed/17081983 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 19413330 http://www.ncbi.nlm.nih.gov/pubmed/19413330 PubMed 19690332 http://www.ncbi.nlm.nih.gov/pubmed/19690332 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 21406692 http://www.ncbi.nlm.nih.gov/pubmed/21406692 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 24129315 http://www.ncbi.nlm.nih.gov/pubmed/24129315 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 3015590 http://www.ncbi.nlm.nih.gov/pubmed/3015590 Reactome R-HSA-425381 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-425381 RefSeq NP_001186621 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001186621 RefSeq NP_001186622 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001186622 RefSeq NP_001186623 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001186623 RefSeq NP_003031 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_003031 SMR P04920 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P04920 STRING 9606.ENSP00000405600 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000405600&targetmode=cogs SUPFAM SSF55804 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF55804 TCDB 2.A.31.1 http://www.tcdb.org/search/result.php?tc=2.A.31.1 TIGRFAMs TIGR00834 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00834 UCSC uc003wit http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003wit&org=rat UniGene Hs.647069 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.647069 UniProtKB B3A2_HUMAN http://www.uniprot.org/uniprot/B3A2_HUMAN UniProtKB-AC P04920 http://www.uniprot.org/uniprot/P04920 charge swissprot:B3A2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:B3A2_HUMAN eggNOG ENOG410XPHD http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XPHD eggNOG KOG1172 http://eggnogapi.embl.de/nog_data/html/tree/KOG1172 epestfind swissprot:B3A2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:B3A2_HUMAN garnier swissprot:B3A2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:B3A2_HUMAN helixturnhelix swissprot:B3A2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:B3A2_HUMAN hmoment swissprot:B3A2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:B3A2_HUMAN iep swissprot:B3A2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:B3A2_HUMAN inforesidue swissprot:B3A2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:B3A2_HUMAN neXtProt NX_P04920 http://www.nextprot.org/db/entry/NX_P04920 octanol swissprot:B3A2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:B3A2_HUMAN pepcoil swissprot:B3A2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:B3A2_HUMAN pepdigest swissprot:B3A2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:B3A2_HUMAN pepinfo swissprot:B3A2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:B3A2_HUMAN pepnet swissprot:B3A2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:B3A2_HUMAN pepstats swissprot:B3A2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:B3A2_HUMAN pepwheel swissprot:B3A2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:B3A2_HUMAN pepwindow swissprot:B3A2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:B3A2_HUMAN sigcleave swissprot:B3A2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:B3A2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS AP2S1_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P53680-1; Sequence=Displayed; Name=2; IsoId=P53680-2; Sequence=VSP_017352; # AltName AP2S1_HUMAN Adaptor protein complex AP-2 subunit sigma # AltName AP2S1_HUMAN Adaptor-related protein complex 2 subunit sigma # AltName AP2S1_HUMAN Clathrin assembly protein 2 sigma small chain # AltName AP2S1_HUMAN Clathrin coat assembly protein AP17 # AltName AP2S1_HUMAN Clathrin coat-associated protein AP17 # AltName AP2S1_HUMAN HA2 17 kDa subunit # AltName AP2S1_HUMAN Plasma membrane adaptor AP-2 17 kDa protein # AltName AP2S1_HUMAN Sigma2-adaptin # BioGrid 107589 43 # CCDS CCDS12693 -. [P53680-2] # CCDS CCDS33062 -. [P53680-1] # ChiTaRS AP2S1 human # DISEASE AP2S1_HUMAN Hypocalciuric hypercalcemia, familial 3 (HHC3) [MIM 600740] A form of hypocalciuric hypercalcemia, a disorder of mineral homeostasis that is transmitted as an autosomal dominant trait with a high degree of penetrance. It is characterized biochemically by lifelong elevation of serum calcium concentrations and is associated with inappropriately low urinary calcium excretion and a normal or mildly elevated circulating parathyroid hormone level. Hypermagnesemia is typically present. Affected individuals are usually asymptomatic and the disorder is considered benign. However, chondrocalcinosis and pancreatitis occur in some adults. {ECO 0000269|PubMed 23222959, ECO 0000269|PubMed 24081735}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000263270 ENSP00000263270; ENSG00000042753. [P53680-1] # Ensembl ENST00000601649 ENSP00000470898; ENSG00000042753. [P53680-2] # ExpressionAtlas P53680 baseline and differential # FUNCTION AP2S1_HUMAN Component of the adaptor protein complex 2 (AP-2). Adaptor protein complexes function in protein Transport via Transport vesicles in different membrane traffic pathways. Adaptor protein complexes are vesicle coat components and appear to be involved in cargo selection and vesicle formation. AP-2 is involved in clathrin-dependent endocytosis in which cargo proteins are incorporated into vesicles surrounded by clathrin (clathrin- coated vesicles, CCVs) which are destined for fusion with the early endosome. The clathrin lattice serves as a mechanical scaffold but is itself unable to bind directly to membrane components. Clathrin-associated adaptor protein (AP) complexes which can bind directly to both the clathrin lattice and to the lipid and protein components of membranes are considered to be the major clathrin adaptors contributing the CCV formation. AP-2 also serves as a cargo receptor to selectively sort the membrane proteins involved in receptor-mediated endocytosis. AP-2 seems to play a role in the recycling of synaptic vesicle membranes from the presynaptic surface. AP-2 recognizes Y-X-X-[FILMV] (Y-X-X-Phi) and [ED]-X-X-X-L-[LI] endocytosis signal motifs within the cytosolic tails of transmembrane cargo molecules. AP-2 may also play a role in maintaining normal post-endocytic trafficking through the ARF6-regulated, non-clathrin pathway. The AP-2 alpha and AP-2 sigma subunits are thought to contribute to the recognition of the [ED]-X-X-X-L-[LI] motif (By similarity). May also play a role in extracellular calcium homeostasis. {ECO 0000250, ECO 0000269|PubMed 14745134, ECO 0000269|PubMed 15473838, ECO 0000269|PubMed 19033387, ECO 0000269|PubMed 23222959}. # GO_component GO:0005829 cytosol; TAS:Reactome. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0030122 AP-2 adaptor complex; TAS:UniProtKB. # GO_component GO:0030666 endocytic vesicle membrane; TAS:Reactome. # GO_component GO:0030669 clathrin-coated endocytic vesicle membrane; TAS:Reactome. # GO_component GO:0036020 endolysosome membrane; TAS:Reactome. # GO_function GO:0005215 transporter activity; NAS:ProtInc. # GO_function GO:0008565 protein transporter activity; NAS:UniProtKB. # GO_process GO:0006886 intracellular protein transport; IEA:InterPro. # GO_process GO:0007018 microtubule-based movement; TAS:Reactome. # GO_process GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II; TAS:Reactome. # GO_process GO:0030100 regulation of endocytosis; TAS:UniProtKB. # GO_process GO:0042059 negative regulation of epidermal growth factor receptor signaling pathway; TAS:Reactome. # GO_process GO:0048013 ephrin receptor signaling pathway; TAS:Reactome. # GO_process GO:0048268 clathrin coat assembly; TAS:UniProtKB. # GO_process GO:0050690 regulation of defense response to virus by virus; TAS:Reactome. # GO_process GO:0060071 Wnt signaling pathway, planar cell polarity pathway; TAS:Reactome. # GO_process GO:0072583 clathrin-dependent endocytosis; TAS:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005829 cytosol # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0008565 protein transporter activity # GOslim_process GO:0002376 immune system process # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0016192 vesicle-mediated transport # Genevisible P53680 HS # HGNC HGNC:565 AP2S1 # INTERACTION AP2S1_HUMAN Q6PD74 AAGAB; NbExp=5; IntAct=EBI-297662, EBI-719906; # IntAct P53680 21 # InterPro IPR000804 Clathrin_sm-chain_CS # InterPro IPR011012 Longin-like_dom # InterPro IPR016635 AP_complex_ssu # InterPro IPR022775 AP_mu_sigma_su # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Pathway ko04144 Endocytosis # KEGG_Pathway ko04721 Synaptic vesicle cycle # KEGG_Pathway ko04961 Endocrine and other factor-regulated calcium reabsorption # KEGG_Pathway ko05016 Huntington's disease # MIM 600740 phenotype # MIM 602242 gene # Organism AP2S1_HUMAN Homo sapiens (Human) # Orphanet 101050 Familial hypocalciuric hypercalcemia type 3 # PANTHER PTHR11753 PTHR11753 # PIRSF PIRSF015588 AP_complex_sigma # PROSITE PS00989 CLAT_ADAPTOR_S # Pfam PF01217 Clat_adaptor_s # Proteomes UP000005640 Chromosome 19 # Reactome R-HSA-167590 Nef Mediated CD4 Down-regulation # Reactome R-HSA-171052 LDL-mediated lipid transport # Reactome R-HSA-177504 Retrograde neurotrophin signalling # Reactome R-HSA-182218 Nef Mediated CD8 Down-regulation # Reactome R-HSA-2132295 MHC class II antigen presentation # Reactome R-HSA-3928665 EPH-ephrin mediated repulsion of cells # Reactome R-HSA-416993 Trafficking of GluR2-containing AMPA receptors # Reactome R-HSA-437239 Recycling pathway of L1 # Reactome R-HSA-5099900 WNT5A-dependent internalization of FZD4 # Reactome R-HSA-5140745 WNT5A-dependent internalization of FZD2, FZD5 and ROR2 # Reactome R-HSA-8856825 Cargo recognition for clathrin-mediated endocytosis # Reactome R-HSA-8856828 Clathrin-mediated endocytosis # Reactome R-HSA-8866427 VLDLR internalisation and degradation # RecName AP2S1_HUMAN AP-2 complex subunit sigma # RefSeq NP_001288005 NM_001301076.1 # RefSeq NP_001288007 NM_001301078.1 # RefSeq NP_001288010 NM_001301081.1 # RefSeq NP_004060 NM_004069.4. [P53680-1] # RefSeq NP_067586 NM_021575.3. [P53680-2] # SIMILARITY Belongs to the adaptor complexes small subunit family. {ECO 0000305}. # SUBCELLULAR LOCATION AP2S1_HUMAN Cell membrane. Membrane, coated pit; Peripheral membrane protein; Cytoplasmic side. Note=AP-2 appears to be excluded from internalizing CCVs and to disengage from sites of endocytosis seconds before internalization of the nascent CCV. {ECO 0000250}. # SUBUNIT AP2S1_HUMAN Adaptor protein complex 2 (AP-2) is a heterotetramer composed of two large adaptins (alpha-type subunit AP2A1 or AP2A2 and beta-type subunit AP2B1), a medium adaptin (mu-type subunit AP2M1) and a small adaptin (sigma-type subunit AP2S1). # SUPFAM SSF64356 SSF64356 # TopDownProteomics P53680-1 -. [P53680-1] # UCSC uc002pft human. [P53680-1] # eggNOG COG5030 LUCA # eggNOG KOG0935 Eukaryota BLAST swissprot:AP2S1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:AP2S1_HUMAN BioCyc ZFISH:ENSG00000042753-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000042753-MONOMER COXPRESdb 1175 http://coxpresdb.jp/data/gene/1175.shtml CleanEx HS_AP2S1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_AP2S1 DOI 10.1016/S0378-1119(98)00406-5 http://dx.doi.org/10.1016/S0378-1119(98)00406-5 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1016/j.molcel.2008.07.007 http://dx.doi.org/10.1016/j.molcel.2008.07.007 DOI 10.1038/ng.2492 http://dx.doi.org/10.1038/ng.2492 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1146/annurev.cellbio.20.010403.104543 http://dx.doi.org/10.1146/annurev.cellbio.20.010403.104543 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DOI 10.1210/jc.2013-2571 http://dx.doi.org/10.1210/jc.2013-2571 DOI 10.1242/jcs.033522 http://dx.doi.org/10.1242/jcs.033522 DOI 10.1247/csf.28.419 http://dx.doi.org/10.1247/csf.28.419 EMBL AJ010148 http://www.ebi.ac.uk/ena/data/view/AJ010148 EMBL AJ010149 http://www.ebi.ac.uk/ena/data/view/AJ010149 EMBL AK312003 http://www.ebi.ac.uk/ena/data/view/AK312003 EMBL BC006337 http://www.ebi.ac.uk/ena/data/view/BC006337 EMBL CH471126 http://www.ebi.ac.uk/ena/data/view/CH471126 EMBL X97074 http://www.ebi.ac.uk/ena/data/view/X97074 Ensembl ENST00000263270 http://www.ensembl.org/id/ENST00000263270 Ensembl ENST00000601649 http://www.ensembl.org/id/ENST00000601649 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0030122 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030122 GO_component GO:0030666 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030666 GO_component GO:0030669 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030669 GO_component GO:0036020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0036020 GO_function GO:0005215 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005215 GO_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GO_process GO:0006886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006886 GO_process GO:0007018 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007018 GO_process GO:0019886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019886 GO_process GO:0030100 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030100 GO_process GO:0042059 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042059 GO_process GO:0048013 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048013 GO_process GO:0048268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048268 GO_process GO:0050690 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050690 GO_process GO:0060071 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060071 GO_process GO:0072583 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0072583 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_process GO:0002376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002376 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0016192 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016192 GeneCards AP2S1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=AP2S1 GeneID 1175 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=1175 GeneTree ENSGT00530000062839 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000062839 HGNC HGNC:565 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:565 HOGENOM HOG000185227 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000185227&db=HOGENOM6 HOVERGEN HBG050517 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050517&db=HOVERGEN InParanoid P53680 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P53680 IntAct P53680 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P53680* InterPro IPR000804 http://www.ebi.ac.uk/interpro/entry/IPR000804 InterPro IPR011012 http://www.ebi.ac.uk/interpro/entry/IPR011012 InterPro IPR016635 http://www.ebi.ac.uk/interpro/entry/IPR016635 InterPro IPR022775 http://www.ebi.ac.uk/interpro/entry/IPR022775 Jabion 1175 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=1175 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Gene hsa:1175 http://www.genome.jp/dbget-bin/www_bget?hsa:1175 KEGG_Orthology KO:K11827 http://www.genome.jp/dbget-bin/www_bget?KO:K11827 KEGG_Pathway ko04144 http://www.genome.jp/kegg-bin/show_pathway?ko04144 KEGG_Pathway ko04721 http://www.genome.jp/kegg-bin/show_pathway?ko04721 KEGG_Pathway ko04961 http://www.genome.jp/kegg-bin/show_pathway?ko04961 KEGG_Pathway ko05016 http://www.genome.jp/kegg-bin/show_pathway?ko05016 MIM 600740 http://www.ncbi.nlm.nih.gov/omim/600740 MIM 602242 http://www.ncbi.nlm.nih.gov/omim/602242 MINT MINT-256650 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-256650 Orphanet 101050 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=101050 PANTHER PTHR11753 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11753 PROSITE PS00989 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00989 PSORT swissprot:AP2S1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:AP2S1_HUMAN PSORT-B swissprot:AP2S1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:AP2S1_HUMAN PSORT2 swissprot:AP2S1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:AP2S1_HUMAN Pfam PF01217 http://pfam.xfam.org/family/PF01217 PharmGKB PA24856 http://www.pharmgkb.org/do/serve?objId=PA24856&objCls=Gene Phobius swissprot:AP2S1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:AP2S1_HUMAN PhylomeDB P53680 http://phylomedb.org/?seqid=P53680 ProteinModelPortal P53680 http://www.proteinmodelportal.org/query/uniprot/P53680 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 14745134 http://www.ncbi.nlm.nih.gov/pubmed/14745134 PubMed 15473838 http://www.ncbi.nlm.nih.gov/pubmed/15473838 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 18691976 http://www.ncbi.nlm.nih.gov/pubmed/18691976 PubMed 19033387 http://www.ncbi.nlm.nih.gov/pubmed/19033387 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 23222959 http://www.ncbi.nlm.nih.gov/pubmed/23222959 PubMed 24081735 http://www.ncbi.nlm.nih.gov/pubmed/24081735 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 9040778 http://www.ncbi.nlm.nih.gov/pubmed/9040778 PubMed 9767099 http://www.ncbi.nlm.nih.gov/pubmed/9767099 Reactome R-HSA-167590 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-167590 Reactome R-HSA-171052 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-171052 Reactome R-HSA-177504 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-177504 Reactome R-HSA-182218 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-182218 Reactome R-HSA-2132295 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2132295 Reactome R-HSA-3928665 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-3928665 Reactome R-HSA-416993 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-416993 Reactome R-HSA-437239 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-437239 Reactome R-HSA-5099900 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5099900 Reactome R-HSA-5140745 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5140745 Reactome R-HSA-8856825 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-8856825 Reactome R-HSA-8856828 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-8856828 Reactome R-HSA-8866427 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-8866427 RefSeq NP_001288005 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001288005 RefSeq NP_001288007 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001288007 RefSeq NP_001288010 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001288010 RefSeq NP_004060 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004060 RefSeq NP_067586 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_067586 SMR P53680 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P53680 STRING 9606.ENSP00000263270 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000263270&targetmode=cogs SUPFAM SSF64356 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF64356 UCSC uc002pft http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002pft&org=rat UniGene Hs.119591 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.119591 UniProtKB AP2S1_HUMAN http://www.uniprot.org/uniprot/AP2S1_HUMAN UniProtKB-AC P53680 http://www.uniprot.org/uniprot/P53680 charge swissprot:AP2S1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:AP2S1_HUMAN eggNOG COG5030 http://eggnogapi.embl.de/nog_data/html/tree/COG5030 eggNOG KOG0935 http://eggnogapi.embl.de/nog_data/html/tree/KOG0935 epestfind swissprot:AP2S1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:AP2S1_HUMAN garnier swissprot:AP2S1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:AP2S1_HUMAN helixturnhelix swissprot:AP2S1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:AP2S1_HUMAN hmoment swissprot:AP2S1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:AP2S1_HUMAN iep swissprot:AP2S1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:AP2S1_HUMAN inforesidue swissprot:AP2S1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:AP2S1_HUMAN neXtProt NX_P53680 http://www.nextprot.org/db/entry/NX_P53680 octanol swissprot:AP2S1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:AP2S1_HUMAN pepcoil swissprot:AP2S1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:AP2S1_HUMAN pepdigest swissprot:AP2S1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:AP2S1_HUMAN pepinfo swissprot:AP2S1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:AP2S1_HUMAN pepnet swissprot:AP2S1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:AP2S1_HUMAN pepstats swissprot:AP2S1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:AP2S1_HUMAN pepwheel swissprot:AP2S1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:AP2S1_HUMAN pepwindow swissprot:AP2S1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:AP2S1_HUMAN sigcleave swissprot:AP2S1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:AP2S1_HUMAN ## Database ID URL or Descriptions # AltName VPS35_HUMAN Maternal-embryonic 3 # AltName VPS35_HUMAN Vesicle protein sorting 35 # BioGrid 120855 73 # ChiTaRS VPS35 human # DISEASE VPS35_HUMAN Parkinson disease 17 (PARK17) [MIM 614203] An autosomal dominant, adult-onset form of Parkinson disease. Parkinson disease is a complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. {ECO 0000269|PubMed 21763482, ECO 0000269|PubMed 21763483, ECO 0000269|PubMed 22517097}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000299138 ENSP00000299138; ENSG00000069329 # ExpressionAtlas Q96QK1 baseline and differential # FUNCTION VPS35_HUMAN Acts as component of the retromer cargo-selective complex (CSC). The CSC is believed to be the core functional component of retromer or respective retromer complex variants acting to prevent missorting of selected transmembrane cargo proteins into the lysosomal degradation pathway. The recruitment of the CSC to the endosomal membrane involves RAB7A and SNX3. The CSC seems to associate with the cytoplasmic domain of cargo proteins predominantly via VPS35; however, these interactions seem to be of low affinity and retromer SNX proteins may also contribute to cargo selectivity thus questioning the classical function of the CSC. The SNX-BAR retromer mediates retrograde transport of cargo proteins from endosomes to the trans-Golgi network (TGN) and is involved in endosome-to-plasma membrane transport for cargo protein recycling. The SNX3-retromer mediates the retrograde endosome-to-TGN transport of WLS distinct from the SNX-BAR retromer pathway. The SNX27-retromer is believed to be involved in endosome-to-plasma membrane trafficking and recycling of a broad spectrum of cargo proteins. The CSC seems to act as recruitment hub for other proteins, such as the WASH complex and TBC1D5 (Probable). Required for retrograde transport of lysosomal enzyme receptor IGF2R and SLC11A2. Required to regulate transcytosis of the polymeric immunoglobulin receptor (pIgR-pIgA) (PubMed 15078903, PubMed 15247922, PubMed 20164305). Required for endosomal localization of FAM21C (PubMed 22070227). Mediates the association of the CSC with the WASH complex via FAM21 (PubMed 22070227, PubMed 24980502, PubMed 24819384). Required for the endosomal localization of TBC1D5 (PubMed 20923837). {ECO 0000269|PubMed 15078903, ECO 0000269|PubMed 15247922, ECO 0000269|PubMed 20164305, ECO 0000269|PubMed 20923837, ECO 0000269|PubMed 22070227, ECO 0000269|PubMed 23395371, ECO 0000269|PubMed 24819384, ECO 0000269|PubMed 24980502, ECO 0000303|PubMed 21725319, ECO 0000303|PubMed 22070227, ECO 0000303|PubMed 22513087, ECO 0000303|PubMed 23563491}. # GO_component GO:0005765 lysosomal membrane; IDA:UniProtKB. # GO_component GO:0005768 endosome; IDA:UniProtKB. # GO_component GO:0005769 early endosome; IDA:UniProtKB. # GO_component GO:0005770 late endosome; IBA:GO_Central. # GO_component GO:0005829 cytosol; IDA:UniProtKB. # GO_component GO:0010008 endosome membrane; IDA:ParkinsonsUK-UCL. # GO_component GO:0014069 postsynaptic density; IEA:Ensembl. # GO_component GO:0030904 retromer complex; IDA:ParkinsonsUK-UCL. # GO_component GO:0030906 retromer, cargo-selective complex; IDA:ParkinsonsUK-UCL. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_component GO:0097422 tubular endosome; IDA:UniProtKB. # GO_component GO:0099073 mitochondrion-derived vesicle; IDA:ParkinsonsUK-UCL. # GO_function GO:0008565 protein transporter activity; IBA:GO_Central. # GO_function GO:0031748 D1 dopamine receptor binding; IPI:ParkinsonsUK-UCL. # GO_process GO:0006886 intracellular protein transport; IBA:GO_Central. # GO_process GO:0010628 positive regulation of gene expression; IDA:ParkinsonsUK-UCL. # GO_process GO:0010821 regulation of mitochondrion organization; IGI:ParkinsonsUK-UCL. # GO_process GO:0016055 Wnt signaling pathway; NAS:ParkinsonsUK-UCL. # GO_process GO:0016241 regulation of macroautophagy; TAS:ParkinsonsUK-UCL. # GO_process GO:0031647 regulation of protein stability; IMP:ParkinsonsUK-UCL. # GO_process GO:0032268 regulation of cellular protein metabolic process; IDA:ParkinsonsUK-UCL. # GO_process GO:0042147 retrograde transport, endosome to Golgi; IMP:UniProtKB. # GO_process GO:0043653 mitochondrial fragmentation involved in apoptotic process; IMP:ParkinsonsUK-UCL. # GO_process GO:0045056 transcytosis; IDA:UniProtKB. # GO_process GO:0060161 positive regulation of dopamine receptor signaling pathway; IDA:ParkinsonsUK-UCL. # GO_process GO:0061357 positive regulation of Wnt protein secretion; IEA:Ensembl. # GO_process GO:0090141 positive regulation of mitochondrial fission; IMP:ParkinsonsUK-UCL. # GO_process GO:0090263 positive regulation of canonical Wnt signaling pathway; IEA:Ensembl. # GO_process GO:0099074 mitochondrion to lysosome transport; IMP:ParkinsonsUK-UCL. # GO_process GO:0099639 neurotransmitter receptor transport, endosome to plasma membrane; IDA:ParkinsonsUK-UCL. # GO_process GO:1902823 negative regulation of late endosome to lysosome transport; IMP:UniProtKB. # GO_process GO:1902950 regulation of dendritic spine maintenance; IMP:ParkinsonsUK-UCL. # GO_process GO:1990126 retrograde transport, endosome to plasma membrane; IMP:UniProtKB. # GO_process GO:2000331 regulation of terminal button organization; IMP:ParkinsonsUK-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005768 endosome # GOslim_component GO:0005829 cytosol # GOslim_component GO:0031410 cytoplasmic vesicle # GOslim_component GO:0043226 organelle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0008565 protein transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007005 mitochondrion organization # GOslim_process GO:0007009 plasma membrane organization # GOslim_process GO:0007034 vacuolar transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0016192 vesicle-mediated transport # Genevisible Q96QK1 HS # HGNC HGNC:13487 VPS35 # INTERACTION VPS35_HUMAN Q13596 SNX1; NbExp=2; IntAct=EBI-1054634, EBI-2822329; O75436 VPS26A; NbExp=7; IntAct=EBI-1054634, EBI-1043891; Q9UBQ0 VPS29; NbExp=5; IntAct=EBI-1054634, EBI-718596; # IntAct Q96QK1 29 # InterPro IPR005378 Vps35 # InterPro IPR016024 ARM-type_fold # MIM 601501 gene # MIM 614203 phenotype # Organism VPS35_HUMAN Homo sapiens (Human) # Orphanet 2828 Young adult-onset Parkinsonism # PANTHER PTHR11099 PTHR11099 # PDB 2R17 X-ray; 2.80 A; C/D=483-780 # PIR JC7516 JC7516 # Pfam PF03635 Vps35 # Proteomes UP000005640 Chromosome 16 # Reactome R-HSA-3238698 WNT ligand biogenesis and trafficking # RecName VPS35_HUMAN Vacuolar protein sorting-associated protein 35 # RefSeq NP_060676 NM_018206.5 # SEQUENCE CAUTION Sequence=AAG01989.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA91137.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; Sequence=BAB14626.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; # SIMILARITY Belongs to the VPS35 family. {ECO 0000305}. # SUBCELLULAR LOCATION VPS35_HUMAN Cytoplasm. Membrane; Peripheral membrane protein. Endosome {ECO 0000269|PubMed 15078903}. Early endosome {ECO 0000305}. Late endosome {ECO 0000305}. Note=Localizes to tubular profiles adjacent to endosomes. {ECO 0000269|PubMed 15078903}. # SUBUNIT VPS35_HUMAN Component of the heterotrimeric retromer cargo-selective complex (CSC), also decribed as vacuolar protein sorting subcomplex (VPS), formed by VPS26 (VPS26A or VPS26B), VPS29 and VPS35 (PubMed 11102511). The CSC has a highly elongated structure with VPS26 and VPS29 binding independently at opposite distal ends of VPS35 as central platform (By similarity). The CSC is believed to associate with variable sorting nexins to form functionally distinct retromer complex variants. The originally described retromer complex (also called SNX-BAR retromer) is a pentamer containing the CSC and a heterodimeric membrane-deforming subcomplex formed between SNX1 or SNX2 and SNX5 or SNX6 (also called SNX-BAR subcomplex); the respective CSC and SNX-BAR subcomplexes associate with low affinity. The CSC associates with SNX3 to form a SNX3-retromer complex. The CSC associates with SNX27, the WASH complex and the SNX-BAR subcomplex to form the SNX27-retromer complex (Probable). Interacts with VPS26A, VPS26B, VPS29, SNX1, SNX2, IGF2R, SNX3, GOLPH3, LRRK2, SLC11A2, FAM21A, FAM21C, FKBP15, WASH1, RAB7A, SNX27, KIAA0196, EHD1 (PubMed 11102511, PubMed 15078903, PubMed 17868075PubMed 22070227, PubMed 19553991, PubMed 21725319, PubMed 22070227, PubMed 22513087, PubMed 23331060, PubMed 23563491, PubMed 23395371, PubMed 24344282, PubMed 24980502, PubMed 17891154, PubMed 19531583). Interacts with MAGEL2; leading to recruitment of the TRIM27 MAGEL2 E3 ubiquitin ligase complex retromer-containing endosomes (PubMed 23452853). {ECO 0000250, ECO 0000269|PubMed 11102511, ECO 0000269|PubMed 15078903, ECO 0000269|PubMed 17868075, ECO 0000269|PubMed 17891154, ECO 0000269|PubMed 19553991, ECO 0000269|PubMed 21725319, ECO 0000269|PubMed 22070227, ECO 0000269|PubMed 22513087, ECO 0000269|PubMed 23331060, ECO 0000269|PubMed 23395371, ECO 0000269|PubMed 23452853, ECO 0000269|PubMed 23563491, ECO 0000269|PubMed 24344282, ECO 0000269|PubMed 24980502, ECO 0000303|PubMed 21725319, ECO 0000303|PubMed 23563491}. # SUPFAM SSF48371 SSF48371; 3 # TISSUE SPECIFICITY VPS35_HUMAN Ubiquitous. Highly expressed in heart, brain, placenta, skeletal muscle, spleen, thymus, testis, ovary, small intestine, kidney and colon. # UCSC uc002eef human # eggNOG ENOG410XNXC LUCA # eggNOG KOG1107 Eukaryota BLAST swissprot:VPS35_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:VPS35_HUMAN BioCyc ZFISH:ENSG00000069329-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000069329-MONOMER COXPRESdb 55737 http://coxpresdb.jp/data/gene/55737.shtml DIP DIP-29076N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-29076N DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1006/bbrc.2000.3727 http://dx.doi.org/10.1006/bbrc.2000.3727 DOI 10.1006/geno.2000.6380 http://dx.doi.org/10.1006/geno.2000.6380 DOI 10.1016/j.ajhg.2011.06.001 http://dx.doi.org/10.1016/j.ajhg.2011.06.001 DOI 10.1016/j.ajhg.2011.06.008 http://dx.doi.org/10.1016/j.ajhg.2011.06.008 DOI 10.1016/j.cell.2013.01.051 http://dx.doi.org/10.1016/j.cell.2013.01.051 DOI 10.1016/j.cub.2014.06.024 http://dx.doi.org/10.1016/j.cub.2014.06.024 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1016/j.neuron.2012.11.033 http://dx.doi.org/10.1016/j.neuron.2012.11.033 DOI 10.1038/nature06216 http://dx.doi.org/10.1038/nature06216 DOI 10.1038/nature08109 http://dx.doi.org/10.1038/nature08109 DOI 10.1038/ncb1153 http://dx.doi.org/10.1038/ncb1153 DOI 10.1038/ncb2281 http://dx.doi.org/10.1038/ncb2281 DOI 10.1038/ncb2721 http://dx.doi.org/10.1038/ncb2721 DOI 10.1038/ncomms4828 http://dx.doi.org/10.1038/ncomms4828 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1042/BJ20111761 http://dx.doi.org/10.1042/BJ20111761 DOI 10.1073/pnas.1316482111 http://dx.doi.org/10.1073/pnas.1316482111 DOI 10.1083/jcb.200312055 http://dx.doi.org/10.1083/jcb.200312055 DOI 10.1091/mbc.11.12.4105 http://dx.doi.org/10.1091/mbc.11.12.4105 DOI 10.1091/mbc.E11-12-1059 http://dx.doi.org/10.1091/mbc.E11-12-1059 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1101/gr.GR1547R http://dx.doi.org/10.1101/gr.GR1547R DOI 10.1111/boc.201200038 http://dx.doi.org/10.1111/boc.201200038 DOI 10.1111/j.1600-0854.2007.00652.x http://dx.doi.org/10.1111/j.1600-0854.2007.00652.x DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DOI 10.1212/WNL.0b013e318253d5f2 http://dx.doi.org/10.1212/WNL.0b013e318253d5f2 DOI 10.1242/jcs.048686 http://dx.doi.org/10.1242/jcs.048686 DOI 10.1242/jcs.060574 http://dx.doi.org/10.1242/jcs.060574 DOI 10.1242/jcs.071472 http://dx.doi.org/10.1242/jcs.071472 EMBL AF175265 http://www.ebi.ac.uk/ena/data/view/AF175265 EMBL AF183418 http://www.ebi.ac.uk/ena/data/view/AF183418 EMBL AF186382 http://www.ebi.ac.uk/ena/data/view/AF186382 EMBL AF191298 http://www.ebi.ac.uk/ena/data/view/AF191298 EMBL AK000395 http://www.ebi.ac.uk/ena/data/view/AK000395 EMBL AK001614 http://www.ebi.ac.uk/ena/data/view/AK001614 EMBL AK023650 http://www.ebi.ac.uk/ena/data/view/AK023650 EMBL AL136888 http://www.ebi.ac.uk/ena/data/view/AL136888 EMBL AL512769 http://www.ebi.ac.uk/ena/data/view/AL512769 EMBL AY007112 http://www.ebi.ac.uk/ena/data/view/AY007112 EMBL BC002414 http://www.ebi.ac.uk/ena/data/view/BC002414 EMBL BC010362 http://www.ebi.ac.uk/ena/data/view/BC010362 EMBL BC093036 http://www.ebi.ac.uk/ena/data/view/BC093036 Ensembl ENST00000299138 http://www.ensembl.org/id/ENST00000299138 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005765 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005765 GO_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GO_component GO:0005769 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005769 GO_component GO:0005770 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005770 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0010008 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010008 GO_component GO:0014069 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014069 GO_component GO:0030904 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030904 GO_component GO:0030906 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030906 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_component GO:0097422 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097422 GO_component GO:0099073 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0099073 GO_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GO_function GO:0031748 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031748 GO_process GO:0006886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006886 GO_process GO:0010628 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010628 GO_process GO:0010821 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010821 GO_process GO:0016055 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016055 GO_process GO:0016241 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016241 GO_process GO:0031647 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031647 GO_process GO:0032268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032268 GO_process GO:0042147 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042147 GO_process GO:0043653 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043653 GO_process GO:0045056 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045056 GO_process GO:0060161 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060161 GO_process GO:0061357 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061357 GO_process GO:0090141 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090141 GO_process GO:0090263 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090263 GO_process GO:0099074 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0099074 GO_process GO:0099639 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0099639 GO_process GO:1902823 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902823 GO_process GO:1902950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902950 GO_process GO:1990126 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1990126 GO_process GO:2000331 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000331 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0031410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007005 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007005 GOslim_process GO:0007009 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007009 GOslim_process GO:0007034 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007034 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0016192 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016192 GeneCards VPS35 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=VPS35 GeneID 55737 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=55737 GeneTree ENSGT00390000007315 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000007315 HGNC HGNC:13487 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:13487 HOVERGEN HBG054277 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG054277&db=HOVERGEN HPA HPA040802 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA040802 InParanoid Q96QK1 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q96QK1 IntAct Q96QK1 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q96QK1* InterPro IPR005378 http://www.ebi.ac.uk/interpro/entry/IPR005378 InterPro IPR016024 http://www.ebi.ac.uk/interpro/entry/IPR016024 Jabion 55737 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=55737 KEGG_Gene hsa:55737 http://www.genome.jp/dbget-bin/www_bget?hsa:55737 MIM 601501 http://www.ncbi.nlm.nih.gov/omim/601501 MIM 614203 http://www.ncbi.nlm.nih.gov/omim/614203 MINT MINT-5001902 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-5001902 OMA LWIRMEA http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=LWIRMEA Orphanet 2828 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=2828 OrthoDB EOG091G0OHF http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0OHF PANTHER PTHR11099 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11099 PDB 2R17 http://www.ebi.ac.uk/pdbe-srv/view/entry/2R17 PDBsum 2R17 http://www.ebi.ac.uk/pdbsum/2R17 PSORT swissprot:VPS35_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:VPS35_HUMAN PSORT-B swissprot:VPS35_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:VPS35_HUMAN PSORT2 swissprot:VPS35_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:VPS35_HUMAN Pfam PF03635 http://pfam.xfam.org/family/PF03635 PharmGKB PA37783 http://www.pharmgkb.org/do/serve?objId=PA37783&objCls=Gene Phobius swissprot:VPS35_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:VPS35_HUMAN PhylomeDB Q96QK1 http://phylomedb.org/?seqid=Q96QK1 ProteinModelPortal Q96QK1 http://www.proteinmodelportal.org/query/uniprot/Q96QK1 PubMed 11062004 http://www.ncbi.nlm.nih.gov/pubmed/11062004 PubMed 11102511 http://www.ncbi.nlm.nih.gov/pubmed/11102511 PubMed 11112353 http://www.ncbi.nlm.nih.gov/pubmed/11112353 PubMed 11230166 http://www.ncbi.nlm.nih.gov/pubmed/11230166 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15078903 http://www.ncbi.nlm.nih.gov/pubmed/15078903 PubMed 15247922 http://www.ncbi.nlm.nih.gov/pubmed/15247922 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 17868075 http://www.ncbi.nlm.nih.gov/pubmed/17868075 PubMed 17891154 http://www.ncbi.nlm.nih.gov/pubmed/17891154 PubMed 19531583 http://www.ncbi.nlm.nih.gov/pubmed/19531583 PubMed 19553991 http://www.ncbi.nlm.nih.gov/pubmed/19553991 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 20164305 http://www.ncbi.nlm.nih.gov/pubmed/20164305 PubMed 20923837 http://www.ncbi.nlm.nih.gov/pubmed/20923837 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 21725319 http://www.ncbi.nlm.nih.gov/pubmed/21725319 PubMed 21763482 http://www.ncbi.nlm.nih.gov/pubmed/21763482 PubMed 21763483 http://www.ncbi.nlm.nih.gov/pubmed/21763483 PubMed 22070227 http://www.ncbi.nlm.nih.gov/pubmed/22070227 PubMed 22513087 http://www.ncbi.nlm.nih.gov/pubmed/22513087 PubMed 22517097 http://www.ncbi.nlm.nih.gov/pubmed/22517097 PubMed 23331060 http://www.ncbi.nlm.nih.gov/pubmed/23331060 PubMed 23395371 http://www.ncbi.nlm.nih.gov/pubmed/23395371 PubMed 23452853 http://www.ncbi.nlm.nih.gov/pubmed/23452853 PubMed 23563491 http://www.ncbi.nlm.nih.gov/pubmed/23563491 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 24344282 http://www.ncbi.nlm.nih.gov/pubmed/24344282 PubMed 24819384 http://www.ncbi.nlm.nih.gov/pubmed/24819384 PubMed 24980502 http://www.ncbi.nlm.nih.gov/pubmed/24980502 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 Reactome R-HSA-3238698 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-3238698 RefSeq NP_060676 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_060676 SMR Q96QK1 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q96QK1 STRING 9606.ENSP00000299138 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000299138&targetmode=cogs SUPFAM SSF48371 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48371 UCSC uc002eef http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002eef&org=rat UniGene Hs.454528 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.454528 UniGene Hs.595143 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.595143 UniProtKB VPS35_HUMAN http://www.uniprot.org/uniprot/VPS35_HUMAN UniProtKB-AC Q96QK1 http://www.uniprot.org/uniprot/Q96QK1 charge swissprot:VPS35_HUMAN http://rest.g-language.org/emboss/charge/swissprot:VPS35_HUMAN eggNOG ENOG410XNXC http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XNXC eggNOG KOG1107 http://eggnogapi.embl.de/nog_data/html/tree/KOG1107 epestfind swissprot:VPS35_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:VPS35_HUMAN garnier swissprot:VPS35_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:VPS35_HUMAN helixturnhelix swissprot:VPS35_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:VPS35_HUMAN hmoment swissprot:VPS35_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:VPS35_HUMAN iep swissprot:VPS35_HUMAN http://rest.g-language.org/emboss/iep/swissprot:VPS35_HUMAN inforesidue swissprot:VPS35_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:VPS35_HUMAN neXtProt NX_Q96QK1 http://www.nextprot.org/db/entry/NX_Q96QK1 octanol swissprot:VPS35_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:VPS35_HUMAN pepcoil swissprot:VPS35_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:VPS35_HUMAN pepdigest swissprot:VPS35_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:VPS35_HUMAN pepinfo swissprot:VPS35_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:VPS35_HUMAN pepnet swissprot:VPS35_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:VPS35_HUMAN pepstats swissprot:VPS35_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:VPS35_HUMAN pepwheel swissprot:VPS35_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:VPS35_HUMAN pepwindow swissprot:VPS35_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:VPS35_HUMAN sigcleave swissprot:VPS35_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:VPS35_HUMAN ## Database ID URL or Descriptions # AltName CLCN1_HUMAN Chloride channel protein, skeletal muscle # BioGrid 107594 7 # ChiTaRS CLCN1 human # DISEASE CLCN1_HUMAN Myotonia congenita, autosomal dominant (MCAD) [MIM 160800] A non-dystrophic skeletal muscle disorder characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction. Most patients have symptom onset in the legs, which later progresses to the arms, neck, and facial muscles. Many patients show marked hypertrophy of the lower limb muscles. The autosomal dominant form (Thomsen disease) is less common and less severe than the autosomal recessive one (Becker disease). A milder form of autosomal dominant myotonia is characterized by isolated myotonia without muscle weakness, hypotrophy, or hypertrophy (myotonia levior). {ECO 0000269|PubMed 12661046, ECO 0000269|PubMed 7581380, ECO 0000269|PubMed 7981750, ECO 0000269|PubMed 8112288, ECO 0000269|PubMed 8533761, ECO 0000269|PubMed 9122265, ECO 0000269|PubMed 9566422, ECO 0000269|PubMed 9736777}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE CLCN1_HUMAN Myotonia congenita, autosomal recessive (MCAR) [MIM 255700] A non-dystrophic skeletal muscle disorder characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction. Most patients have symptom onset in the legs, which later progresses to the arms, neck, and facial muscles. Many patients show marked hypertrophy of the lower limb muscles. The autosomal recessive form (Becker disease) is more severe than the autosomal dominant one (Thomsen disease). {ECO 0000269|PubMed 10215406, ECO 0000269|PubMed 10644771, ECO 0000269|PubMed 11113225, ECO 0000269|PubMed 12661046, ECO 0000269|PubMed 1379744, ECO 0000269|PubMed 19697366, ECO 0000269|PubMed 22521272, ECO 0000269|PubMed 26007199, ECO 0000269|PubMed 26502825, ECO 0000269|PubMed 26510092, ECO 0000269|PubMed 7874130, ECO 0000269|PubMed 7951242, ECO 0000269|PubMed 7981681, ECO 0000269|PubMed 8571958, ECO 0000269|PubMed 9566422, ECO 0000269|PubMed 9736777}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000343257 ENSP00000339867; ENSG00000188037 # ExpressionAtlas P35523 baseline and differential # FUNCTION CLCN1_HUMAN Voltage-gated chloride channel. Chloride channels have several functions including the regulation of cell volume; membrane potential stabilization, signal transduction and transepithelial transport. {ECO 0000269|PubMed 12456816, ECO 0000269|PubMed 22521272, ECO 0000269|PubMed 26007199, ECO 0000269|PubMed 26502825, ECO 0000269|PubMed 26510092, ECO 0000269|PubMed 7951242, ECO 0000269|PubMed 8112288, ECO 0000269|PubMed 9122265, ECO 0000269|PubMed 9736777}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IDA:UniProtKB. # GO_component GO:0034707 chloride channel complex; IEA:UniProtKB-KW. # GO_component GO:0042383 sarcolemma; IEA:Ensembl. # GO_function GO:0005247 voltage-gated chloride channel activity; IMP:UniProtKB. # GO_function GO:0031404 chloride ion binding; IBA:GO_Central. # GO_function GO:0042803 protein homodimerization activity; IDA:UniProtKB. # GO_process GO:0006936 muscle contraction; IMP:UniProtKB. # GO_process GO:0019227 neuronal action potential propagation; IEA:Ensembl. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:1902476 chloride transmembrane transport; IMP:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0008150 biological_process # GOslim_process GO:0050877 neurological system process # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.10.3080.10 -; 1. # Genevisible P35523 HS # HGNC HGNC:2019 CLCN1 # INTERACTION CLCN1_HUMAN Q92624 APPBP2; NbExp=5; IntAct=EBI-10206780, EBI-743771; Q8IZU0 FAM9B; NbExp=3; IntAct=EBI-10206780, EBI-10175124; # IntAct P35523 2 # InterPro IPR000644 CBS_dom # InterPro IPR001807 Cl-channel_volt-gated # InterPro IPR002243 Cl_channel-1 # InterPro IPR014743 Cl-channel_core # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00705 [Musculoskeletal disease; Nervous system disease] Myotonia levoir # MIM 118425 gene # MIM 160800 phenotype # MIM 255700 phenotype # MISCELLANEOUS CLCN1_HUMAN The CLC channel family contains both chloride channels and proton-coupled anion transporters that exchange chloride or another anion for protons. The absence of conserved gating glutamate residues is typical for family members that function as channels. # Organism CLCN1_HUMAN Homo sapiens (Human) # Orphanet 614 Thomsen and Becker disease # PIR S37078 S37078 # PRINTS PR00762 CLCHANNEL # PRINTS PR01112 CLCHANNEL1 # PROSITE PS51371 CBS; 2 # Pfam PF00654 Voltage_CLC # Proteomes UP000005640 Chromosome 7 # Reactome R-HSA-2672351 Stimuli-sensing channels # RecName CLCN1_HUMAN Chloride channel protein 1 # RefSeq NP_000074 NM_000083.2 # SIMILARITY Belongs to the chloride channel (TC 2.A.49) family. ClC-1/CLCN1 subfamily. {ECO 0000305}. # SIMILARITY Contains 2 CBS domains. {ECO:0000255|PROSITE- ProRule PRU00703}. # SUBCELLULAR LOCATION CLCN1_HUMAN Cell membrane {ECO 0000269|PubMed 26502825}; Multi-pass membrane protein {ECO 0000255}. # SUBUNIT Homodimer. {ECO:0000269|PubMed 26502825}. # SUPFAM SSF81340 SSF81340 # TCDB 2.A.49.2 the chloride carrier/channel (clc) family # TISSUE SPECIFICITY CLCN1_HUMAN Predominantly expressed in skeletal muscles. # UCSC uc003wcr human # eggNOG COG0038 LUCA # eggNOG KOG0476 Eukaryota BLAST swissprot:CLCN1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CLCN1_HUMAN BioCyc ZFISH:G66-31329-MONOMER http://biocyc.org/getid?id=ZFISH:G66-31329-MONOMER COXPRESdb 1180 http://coxpresdb.jp/data/gene/1180.shtml CleanEx HS_CLCN1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CLCN1 DOI 10.1002/(SICI)1098-1004(1998)11:4<331::AID-HUMU13>3.3.CO http://dx.doi.org/10.1002/(SICI)1098-1004(1998)11:4<331::AID-HUMU13>3.3.CO DOI 10.1002/humu.22916 http://dx.doi.org/10.1002/humu.22916 DOI 10.1002/mus.10347 http://dx.doi.org/10.1002/mus.10347 DOI 10.1002/mus.21525 http://dx.doi.org/10.1002/mus.21525 DOI 10.1007/s12017-015-8356-8 http://dx.doi.org/10.1007/s12017-015-8356-8 DOI 10.1016/0896-6273(95)90023-3 http://dx.doi.org/10.1016/0896-6273(95)90023-3 DOI 10.1016/j.jns.2012.03.024 http://dx.doi.org/10.1016/j.jns.2012.03.024 DOI 10.1038/ng0493-305 http://dx.doi.org/10.1038/ng0493-305 DOI 10.1038/srep15382 http://dx.doi.org/10.1038/srep15382 DOI 10.1073/pnas.94.6.2729 http://dx.doi.org/10.1073/pnas.94.6.2729 DOI 10.1074/jbc.275.4.2999 http://dx.doi.org/10.1074/jbc.275.4.2999 DOI 10.1093/hmg/3.6.941 http://dx.doi.org/10.1093/hmg/3.6.941 DOI 10.1093/hmg/3.7.1123 http://dx.doi.org/10.1093/hmg/3.7.1123 DOI 10.1093/hmg/4.8.1397 http://dx.doi.org/10.1093/hmg/4.8.1397 DOI 10.1093/hmg/7.11.1753 http://dx.doi.org/10.1093/hmg/7.11.1753 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1113/JP270358 http://dx.doi.org/10.1113/JP270358 DOI 10.1113/jphysiol.2002.027037 http://dx.doi.org/10.1113/jphysiol.2002.027037 DOI 10.1113/jphysiol.2012.232785 http://dx.doi.org/10.1113/jphysiol.2012.232785 DOI 10.1126/science.1083423 http://dx.doi.org/10.1126/science.1083423 DOI 10.1126/science.1133427 http://dx.doi.org/10.1126/science.1133427 DOI 10.1126/science.1379744 http://dx.doi.org/10.1126/science.1379744 DOI 10.1212/WNL.50.4.1176 http://dx.doi.org/10.1212/WNL.50.4.1176 DOI 10.1212/WNL.55.11.1697 http://dx.doi.org/10.1212/WNL.55.11.1697 EMBL BC112156 http://www.ebi.ac.uk/ena/data/view/BC112156 EMBL BC113495 http://www.ebi.ac.uk/ena/data/view/BC113495 EMBL CH236959 http://www.ebi.ac.uk/ena/data/view/CH236959 EMBL L08261 http://www.ebi.ac.uk/ena/data/view/L08261 EMBL L08262 http://www.ebi.ac.uk/ena/data/view/L08262 EMBL L08263 http://www.ebi.ac.uk/ena/data/view/L08263 EMBL L08264 http://www.ebi.ac.uk/ena/data/view/L08264 EMBL L08265 http://www.ebi.ac.uk/ena/data/view/L08265 EMBL M97820 http://www.ebi.ac.uk/ena/data/view/M97820 EMBL Z25587 http://www.ebi.ac.uk/ena/data/view/Z25587 EMBL Z25752 http://www.ebi.ac.uk/ena/data/view/Z25752 EMBL Z25753 http://www.ebi.ac.uk/ena/data/view/Z25753 EMBL Z25754 http://www.ebi.ac.uk/ena/data/view/Z25754 EMBL Z25755 http://www.ebi.ac.uk/ena/data/view/Z25755 EMBL Z25756 http://www.ebi.ac.uk/ena/data/view/Z25756 EMBL Z25757 http://www.ebi.ac.uk/ena/data/view/Z25757 EMBL Z25758 http://www.ebi.ac.uk/ena/data/view/Z25758 EMBL Z25759 http://www.ebi.ac.uk/ena/data/view/Z25759 EMBL Z25760 http://www.ebi.ac.uk/ena/data/view/Z25760 EMBL Z25761 http://www.ebi.ac.uk/ena/data/view/Z25761 EMBL Z25762 http://www.ebi.ac.uk/ena/data/view/Z25762 EMBL Z25763 http://www.ebi.ac.uk/ena/data/view/Z25763 EMBL Z25764 http://www.ebi.ac.uk/ena/data/view/Z25764 EMBL Z25765 http://www.ebi.ac.uk/ena/data/view/Z25765 EMBL Z25766 http://www.ebi.ac.uk/ena/data/view/Z25766 EMBL Z25767 http://www.ebi.ac.uk/ena/data/view/Z25767 EMBL Z25768 http://www.ebi.ac.uk/ena/data/view/Z25768 EMBL Z25872 http://www.ebi.ac.uk/ena/data/view/Z25872 EMBL Z25884 http://www.ebi.ac.uk/ena/data/view/Z25884 Ensembl ENST00000343257 http://www.ensembl.org/id/ENST00000343257 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0034707 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034707 GO_component GO:0042383 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042383 GO_function GO:0005247 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005247 GO_function GO:0031404 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031404 GO_function GO:0042803 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042803 GO_process GO:0006936 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006936 GO_process GO:0019227 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019227 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:1902476 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902476 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.10.3080.10 http://www.cathdb.info/version/latest/superfamily/1.10.3080.10 GeneCards CLCN1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CLCN1 GeneID 1180 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=1180 GeneTree ENSGT00760000119109 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119109 HGNC HGNC:2019 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:2019 HOGENOM HOG000231297 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231297&db=HOGENOM6 HOVERGEN HBG005332 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG005332&db=HOVERGEN InParanoid P35523 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P35523 IntAct P35523 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P35523* InterPro IPR000644 http://www.ebi.ac.uk/interpro/entry/IPR000644 InterPro IPR001807 http://www.ebi.ac.uk/interpro/entry/IPR001807 InterPro IPR002243 http://www.ebi.ac.uk/interpro/entry/IPR002243 InterPro IPR014743 http://www.ebi.ac.uk/interpro/entry/IPR014743 Jabion 1180 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=1180 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00705 http://www.genome.jp/dbget-bin/www_bget?H00705 KEGG_Gene hsa:1180 http://www.genome.jp/dbget-bin/www_bget?hsa:1180 KEGG_Orthology KO:K05010 http://www.genome.jp/dbget-bin/www_bget?KO:K05010 MIM 118425 http://www.ncbi.nlm.nih.gov/omim/118425 MIM 160800 http://www.ncbi.nlm.nih.gov/omim/160800 MIM 255700 http://www.ncbi.nlm.nih.gov/omim/255700 OMA DMLTVGC http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=DMLTVGC Orphanet 614 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=614 OrthoDB EOG091G01RJ http://cegg.unige.ch/orthodb/results?searchtext=EOG091G01RJ PRINTS PR00762 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00762 PRINTS PR01112 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01112 PROSITE PS51371 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51371 PSORT swissprot:CLCN1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CLCN1_HUMAN PSORT-B swissprot:CLCN1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CLCN1_HUMAN PSORT2 swissprot:CLCN1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CLCN1_HUMAN Pfam PF00654 http://pfam.xfam.org/family/PF00654 PharmGKB PA26546 http://www.pharmgkb.org/do/serve?objId=PA26546&objCls=Gene Phobius swissprot:CLCN1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CLCN1_HUMAN PhylomeDB P35523 http://phylomedb.org/?seqid=P35523 ProteinModelPortal P35523 http://www.proteinmodelportal.org/query/uniprot/P35523 PubMed 10215406 http://www.ncbi.nlm.nih.gov/pubmed/10215406 PubMed 10644771 http://www.ncbi.nlm.nih.gov/pubmed/10644771 PubMed 11113225 http://www.ncbi.nlm.nih.gov/pubmed/11113225 PubMed 12456816 http://www.ncbi.nlm.nih.gov/pubmed/12456816 PubMed 12661046 http://www.ncbi.nlm.nih.gov/pubmed/12661046 PubMed 12690205 http://www.ncbi.nlm.nih.gov/pubmed/12690205 PubMed 1379744 http://www.ncbi.nlm.nih.gov/pubmed/1379744 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16959974 http://www.ncbi.nlm.nih.gov/pubmed/16959974 PubMed 19697366 http://www.ncbi.nlm.nih.gov/pubmed/19697366 PubMed 22521272 http://www.ncbi.nlm.nih.gov/pubmed/22521272 PubMed 22641783 http://www.ncbi.nlm.nih.gov/pubmed/22641783 PubMed 26007199 http://www.ncbi.nlm.nih.gov/pubmed/26007199 PubMed 26096614 http://www.ncbi.nlm.nih.gov/pubmed/26096614 PubMed 26502825 http://www.ncbi.nlm.nih.gov/pubmed/26502825 PubMed 26510092 http://www.ncbi.nlm.nih.gov/pubmed/26510092 PubMed 7581380 http://www.ncbi.nlm.nih.gov/pubmed/7581380 PubMed 7874130 http://www.ncbi.nlm.nih.gov/pubmed/7874130 PubMed 7951242 http://www.ncbi.nlm.nih.gov/pubmed/7951242 PubMed 7981681 http://www.ncbi.nlm.nih.gov/pubmed/7981681 PubMed 7981750 http://www.ncbi.nlm.nih.gov/pubmed/7981750 PubMed 8112288 http://www.ncbi.nlm.nih.gov/pubmed/8112288 PubMed 8533761 http://www.ncbi.nlm.nih.gov/pubmed/8533761 PubMed 8571958 http://www.ncbi.nlm.nih.gov/pubmed/8571958 PubMed 8845168 http://www.ncbi.nlm.nih.gov/pubmed/8845168 PubMed 9122265 http://www.ncbi.nlm.nih.gov/pubmed/9122265 PubMed 9566422 http://www.ncbi.nlm.nih.gov/pubmed/9566422 PubMed 9736777 http://www.ncbi.nlm.nih.gov/pubmed/9736777 Reactome R-HSA-2672351 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2672351 RefSeq NP_000074 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000074 STRING 9606.ENSP00000339867 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000339867&targetmode=cogs SUPFAM SSF81340 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81340 TCDB 2.A.49.2 http://www.tcdb.org/search/result.php?tc=2.A.49.2 UCSC uc003wcr http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003wcr&org=rat UniGene Hs.121483 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.121483 UniProtKB CLCN1_HUMAN http://www.uniprot.org/uniprot/CLCN1_HUMAN UniProtKB-AC P35523 http://www.uniprot.org/uniprot/P35523 charge swissprot:CLCN1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CLCN1_HUMAN eggNOG COG0038 http://eggnogapi.embl.de/nog_data/html/tree/COG0038 eggNOG KOG0476 http://eggnogapi.embl.de/nog_data/html/tree/KOG0476 epestfind swissprot:CLCN1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CLCN1_HUMAN garnier swissprot:CLCN1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CLCN1_HUMAN helixturnhelix swissprot:CLCN1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CLCN1_HUMAN hmoment swissprot:CLCN1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CLCN1_HUMAN iep swissprot:CLCN1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CLCN1_HUMAN inforesidue swissprot:CLCN1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CLCN1_HUMAN neXtProt NX_P35523 http://www.nextprot.org/db/entry/NX_P35523 octanol swissprot:CLCN1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CLCN1_HUMAN pepcoil swissprot:CLCN1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CLCN1_HUMAN pepdigest swissprot:CLCN1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CLCN1_HUMAN pepinfo swissprot:CLCN1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CLCN1_HUMAN pepnet swissprot:CLCN1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CLCN1_HUMAN pepstats swissprot:CLCN1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CLCN1_HUMAN pepwheel swissprot:CLCN1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CLCN1_HUMAN pepwindow swissprot:CLCN1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CLCN1_HUMAN sigcleave swissprot:CLCN1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CLCN1_HUMAN ## Database ID URL or Descriptions # AltName BAT1_HUMAN Glycoprotein-associated amino acid transporter b0,+AT1 # AltName BAT1_HUMAN Solute carrier family 7 member 9 # BioGrid 116309 3 # DISEASE BAT1_HUMAN Cystinuria (CSNU) [MIM 220100] An autosomal disorder characterized by impaired epithelial cell transport of cystine and dibasic amino acids (lysine, ornithine, and arginine) in the proximal renal tubule and gastrointestinal tract. The impaired renal reabsorption of cystine and its low solubility causes the formation of calculi in the urinary tract, resulting in obstructive uropathy, pyelonephritis, and, rarely, renal failure. {ECO 0000269|PubMed 10471498, ECO 0000269|PubMed 11157794, ECO 0000269|PubMed 12234283, ECO 0000269|PubMed 12371955, ECO 0000269|PubMed 12820697, ECO 0000269|PubMed 15635077, ECO 0000269|PubMed 16138908, ECO 0000269|PubMed 16609684, ECO 0000269|PubMed 18752446, ECO 0000269|PubMed 19782624}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DrugBank DB00138 L-Cystine # Ensembl ENST00000023064 ENSP00000023064; ENSG00000021488 # Ensembl ENST00000587772 ENSP00000468439; ENSG00000021488 # Ensembl ENST00000590341 ENSP00000464822; ENSG00000021488 # ExpressionAtlas P82251 baseline and differential # FUNCTION BAT1_HUMAN Involved in the high-affinity, sodium-independent transport of cystine and neutral and dibasic amino acids (system b(0,+)-like activity). Thought to be responsible for the high- affinity reabsorption of cystine in the kidney tubule. {ECO 0000269|PubMed 10471498, ECO 0000269|PubMed 10588648, ECO 0000269|PubMed 16609684}. # GO_component GO:0005886 plasma membrane; ISS:UniProtKB. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0016324 apical plasma membrane; IDA:UniProtKB. # GO_component GO:0031526 brush border membrane; IDA:UniProtKB. # GO_function GO:0015175 neutral amino acid transmembrane transporter activity; IMP:UniProtKB. # GO_function GO:0015184 L-cystine transmembrane transporter activity; IMP:UniProtKB. # GO_function GO:0015297 antiporter activity; IBA:GO_Central. # GO_function GO:0042605 peptide antigen binding; ISS:UniProtKB. # GO_process GO:0006461 protein complex assembly; TAS:ProtInc. # GO_process GO:0006865 amino acid transport; TAS:Reactome. # GO_process GO:0015804 neutral amino acid transport; IMP:UniProtKB. # GO_process GO:0015811 L-cystine transport; IMP:UniProtKB. # GO_process GO:0050900 leukocyte migration; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0002376 immune system process # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # GOslim_process GO:0048870 cell motility # Genevisible P82251 HS # HGNC HGNC:11067 SLC7A9 # IntAct P82251 3 # InterPro IPR002293 AA/rel_permease1 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02001 Solute carrier family # KEGG_Disease H00901 [Inherited metabolic disease; Urinary system disease; Kidney disease] Cystinuria # KEGG_Pathway ko04974 Protein digestion and absorption # MIM 220100 phenotype # MIM 604144 gene # Organism BAT1_HUMAN Homo sapiens (Human) # Orphanet 93613 Cystinuria type B # PANTHER PTHR11785 PTHR11785 # PIRSF PIRSF006060 AA_transporter # Pfam PF13520 AA_permease_2 # Proteomes UP000005640 Chromosome 19 # Reactome R-HSA-210991 Basigin interactions # Reactome R-HSA-352230 Amino acid transport across the plasma membrane # RecName BAT1_HUMAN b(0,+)-type amino acid transporter 1 # RefSeq NP_001119807 NM_001126335.1 # RefSeq NP_001229965 NM_001243036.1 # RefSeq NP_055085 NM_014270.4 # RefSeq XP_011524704 XM_011526402.2 # SIMILARITY Belongs to the amino acid-polyamine-organocation (APC) superfamily. {ECO 0000305}. # SUBCELLULAR LOCATION BAT1_HUMAN Apical cell membrane {ECO 0000269|PubMed 12167606, ECO 0000269|PubMed 16609684}; Multi- pass membrane protein {ECO 0000269|PubMed 16609684, ECO 0000305|PubMed 12167606}. # SUBUNIT Disulfide-linked heterodimer with the amino acid transport protein SLC3A1. Interacts with CAV1. {ECO:0000250|UniProtKB P82252}. # TCDB 2.A.3.8.19 the amino acid-polyamine-organocation (apc) family # TISSUE SPECIFICITY BAT1_HUMAN Expressed in the brush border membrane in the kidney (at protein level). Kidney, small intestine, liver and placenta. {ECO 0000269|PubMed 10471498, ECO 0000269|PubMed 12167606}. # UCSC uc002ntu human # eggNOG COG0531 LUCA # eggNOG KOG1287 Eukaryota BLAST swissprot:BAT1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:BAT1_HUMAN BioCyc ZFISH:ENSG00000021488-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000021488-MONOMER COXPRESdb 11136 http://coxpresdb.jp/data/gene/11136.shtml CleanEx HS_BAT1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_BAT1 CleanEx HS_SLC7A9 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC7A9 DOI 10.1016/j.ymgme.2009.09.001 http://dx.doi.org/10.1016/j.ymgme.2009.09.001 DOI 10.1038/12652 http://dx.doi.org/10.1038/12652 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1038/sj.ki.5000241 http://dx.doi.org/10.1038/sj.ki.5000241 DOI 10.1046/j.1523-1755.2001.0590051821.x http://dx.doi.org/10.1046/j.1523-1755.2001.0590051821.x DOI 10.1046/j.1523-1755.2002.00552.x http://dx.doi.org/10.1046/j.1523-1755.2002.00552.x DOI 10.1046/j.1523-1755.2002.00602.x http://dx.doi.org/10.1046/j.1523-1755.2002.00602.x DOI 10.1089/109065703321560886 http://dx.doi.org/10.1089/109065703321560886 DOI 10.1089/gte.2007.0113 http://dx.doi.org/10.1089/gte.2007.0113 DOI 10.1091/mbc.10.12.4135 http://dx.doi.org/10.1091/mbc.10.12.4135 DOI 10.1093/hmg/10.4.305 http://dx.doi.org/10.1093/hmg/10.4.305 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1529-8817.2005.00185.x http://dx.doi.org/10.1111/j.1529-8817.2005.00185.x DOI 10.1136/jmg.2004.022244 http://dx.doi.org/10.1136/jmg.2004.022244 DrugBank DB00138 http://www.drugbank.ca/drugs/DB00138 EMBL AB033548 http://www.ebi.ac.uk/ena/data/view/AB033548 EMBL AF141289 http://www.ebi.ac.uk/ena/data/view/AF141289 EMBL AF421170 http://www.ebi.ac.uk/ena/data/view/AF421170 EMBL AF421171 http://www.ebi.ac.uk/ena/data/view/AF421171 EMBL AF421172 http://www.ebi.ac.uk/ena/data/view/AF421172 EMBL AF421173 http://www.ebi.ac.uk/ena/data/view/AF421173 EMBL AF421174 http://www.ebi.ac.uk/ena/data/view/AF421174 EMBL AF421175 http://www.ebi.ac.uk/ena/data/view/AF421175 EMBL AF421176 http://www.ebi.ac.uk/ena/data/view/AF421176 EMBL AF421177 http://www.ebi.ac.uk/ena/data/view/AF421177 EMBL AF421178 http://www.ebi.ac.uk/ena/data/view/AF421178 EMBL AF421179 http://www.ebi.ac.uk/ena/data/view/AF421179 EMBL AF421180 http://www.ebi.ac.uk/ena/data/view/AF421180 EMBL AF421181 http://www.ebi.ac.uk/ena/data/view/AF421181 EMBL AJ249199 http://www.ebi.ac.uk/ena/data/view/AJ249199 EMBL AK313708 http://www.ebi.ac.uk/ena/data/view/AK313708 EMBL BC017962 http://www.ebi.ac.uk/ena/data/view/BC017962 Ensembl ENST00000023064 http://www.ensembl.org/id/ENST00000023064 Ensembl ENST00000587772 http://www.ensembl.org/id/ENST00000587772 Ensembl ENST00000590341 http://www.ensembl.org/id/ENST00000590341 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:0031526 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031526 GO_function GO:0015175 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015175 GO_function GO:0015184 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015184 GO_function GO:0015297 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015297 GO_function GO:0042605 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042605 GO_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GO_process GO:0006865 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006865 GO_process GO:0015804 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015804 GO_process GO:0015811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015811 GO_process GO:0050900 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050900 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0002376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002376 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0048870 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048870 GeneCards SLC7A9 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC7A9 GeneID 11136 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=11136 GeneTree ENSGT00760000119037 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119037 HGNC HGNC:11067 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11067 HOGENOM HOG000098892 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000098892&db=HOGENOM6 HOVERGEN HBG000476 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG000476&db=HOVERGEN HPA HPA042591 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA042591 InParanoid P82251 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P82251 IntAct P82251 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P82251* InterPro IPR002293 http://www.ebi.ac.uk/interpro/entry/IPR002293 Jabion 11136 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=11136 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Disease H00901 http://www.genome.jp/dbget-bin/www_bget?H00901 KEGG_Gene hsa:11136 http://www.genome.jp/dbget-bin/www_bget?hsa:11136 KEGG_Orthology KO:K13868 http://www.genome.jp/dbget-bin/www_bget?KO:K13868 KEGG_Pathway ko04974 http://www.genome.jp/kegg-bin/show_pathway?ko04974 MIM 220100 http://www.ncbi.nlm.nih.gov/omim/220100 MIM 604144 http://www.ncbi.nlm.nih.gov/omim/604144 MINT MINT-3023541 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-3023541 OMA SFSEYVC http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=SFSEYVC Orphanet 93613 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=93613 OrthoDB EOG091G07EM http://cegg.unige.ch/orthodb/results?searchtext=EOG091G07EM PANTHER PTHR11785 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11785 PSORT swissprot:BAT1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:BAT1_HUMAN PSORT-B swissprot:BAT1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:BAT1_HUMAN PSORT2 swissprot:BAT1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:BAT1_HUMAN Pfam PF13520 http://pfam.xfam.org/family/PF13520 PharmGKB PA35927 http://www.pharmgkb.org/do/serve?objId=PA35927&objCls=Gene Phobius swissprot:BAT1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:BAT1_HUMAN PhylomeDB P82251 http://phylomedb.org/?seqid=P82251 ProteinModelPortal P82251 http://www.proteinmodelportal.org/query/uniprot/P82251 PubMed 10471498 http://www.ncbi.nlm.nih.gov/pubmed/10471498 PubMed 10588648 http://www.ncbi.nlm.nih.gov/pubmed/10588648 PubMed 11157794 http://www.ncbi.nlm.nih.gov/pubmed/11157794 PubMed 11318953 http://www.ncbi.nlm.nih.gov/pubmed/11318953 PubMed 12167606 http://www.ncbi.nlm.nih.gov/pubmed/12167606 PubMed 12234283 http://www.ncbi.nlm.nih.gov/pubmed/12234283 PubMed 12371955 http://www.ncbi.nlm.nih.gov/pubmed/12371955 PubMed 12820697 http://www.ncbi.nlm.nih.gov/pubmed/12820697 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15635077 http://www.ncbi.nlm.nih.gov/pubmed/15635077 PubMed 16138908 http://www.ncbi.nlm.nih.gov/pubmed/16138908 PubMed 16609684 http://www.ncbi.nlm.nih.gov/pubmed/16609684 PubMed 18752446 http://www.ncbi.nlm.nih.gov/pubmed/18752446 PubMed 19782624 http://www.ncbi.nlm.nih.gov/pubmed/19782624 Reactome R-HSA-210991 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-210991 Reactome R-HSA-352230 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-352230 RefSeq NP_001119807 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001119807 RefSeq NP_001229965 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001229965 RefSeq NP_055085 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_055085 RefSeq XP_011524704 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011524704 STRING 9606.ENSP00000023064 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000023064&targetmode=cogs TCDB 2.A.3.8.19 http://www.tcdb.org/search/result.php?tc=2.A.3.8.19 UCSC uc002ntu http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002ntu&org=rat UniGene Hs.743345 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.743345 UniProtKB BAT1_HUMAN http://www.uniprot.org/uniprot/BAT1_HUMAN UniProtKB-AC P82251 http://www.uniprot.org/uniprot/P82251 charge swissprot:BAT1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:BAT1_HUMAN eggNOG COG0531 http://eggnogapi.embl.de/nog_data/html/tree/COG0531 eggNOG KOG1287 http://eggnogapi.embl.de/nog_data/html/tree/KOG1287 epestfind swissprot:BAT1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:BAT1_HUMAN garnier swissprot:BAT1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:BAT1_HUMAN helixturnhelix swissprot:BAT1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:BAT1_HUMAN hmoment swissprot:BAT1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:BAT1_HUMAN iep swissprot:BAT1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:BAT1_HUMAN inforesidue swissprot:BAT1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:BAT1_HUMAN neXtProt NX_P82251 http://www.nextprot.org/db/entry/NX_P82251 octanol swissprot:BAT1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:BAT1_HUMAN pepcoil swissprot:BAT1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:BAT1_HUMAN pepdigest swissprot:BAT1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:BAT1_HUMAN pepinfo swissprot:BAT1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:BAT1_HUMAN pepnet swissprot:BAT1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:BAT1_HUMAN pepstats swissprot:BAT1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:BAT1_HUMAN pepwheel swissprot:BAT1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:BAT1_HUMAN pepwindow swissprot:BAT1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:BAT1_HUMAN sigcleave swissprot:BAT1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:BAT1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS ABCA5_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q8WWZ7-1; Sequence=Displayed; Name=2; Synonyms=V20+16; IsoId=Q8WWZ7-2; Sequence=VSP_020691, VSP_020692; Name=3; IsoId=Q8WWZ7-3; Sequence=VSP_020690; Note=No experimental confirmation available.; # BioGrid 117024 2 # CCDS CCDS11685 -. [Q8WWZ7-1] # ChiTaRS ABCA5 human # DEVELOPMENTAL STAGE Expressed in fetal liver, kidney and brain. {ECO 0000269|Ref.1}. # DrugBank DB00864 Tacrolimus # Ensembl ENST00000392676 ENSP00000376443; ENSG00000154265. [Q8WWZ7-1] # Ensembl ENST00000588877 ENSP00000467882; ENSG00000154265. [Q8WWZ7-1] # ExpressionAtlas Q8WWZ7 baseline and differential # FUNCTION ABCA5_HUMAN May play a role in the processing of autolysosomes. {ECO 0000250}. # GO_component GO:0000139 Golgi membrane; IEA:UniProtKB-SubCell. # GO_component GO:0005764 lysosome; ISS:BHF-UCL. # GO_component GO:0005765 lysosomal membrane; IEA:UniProtKB-SubCell. # GO_component GO:0005770 late endosome; ISS:BHF-UCL. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0031902 late endosome membrane; IEA:UniProtKB-SubCell. # GO_component GO:0043231 intracellular membrane-bounded organelle; IBA:GO_Central. # GO_function GO:0005524 ATP binding; IEA:UniProtKB-KW. # GO_function GO:0042626 ATPase activity, coupled to transmembrane movement of substances; IBA:GO_Central. # GO_process GO:0006869 lipid transport; IBA:GO_Central. # GO_process GO:0010745 negative regulation of macrophage derived foam cell differentiation; ISS:BHF-UCL. # GO_process GO:0033344 cholesterol efflux; ISS:BHF-UCL. # GO_process GO:0034375 high-density lipoprotein particle remodeling; ISS:BHF-UCL. # GO_process GO:0043691 reverse cholesterol transport; IC:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005764 lysosome # GOslim_component GO:0005768 endosome # GOslim_component GO:0043226 organelle # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # Gene3D 3.40.50.300 -; 2. # Genevisible Q8WWZ7 HS # HGNC HGNC:35 ABCA5 # IntAct Q8WWZ7 2 # InterPro IPR003439 ABC_transporter-like # InterPro IPR003593 AAA+_ATPase # InterPro IPR017871 ABC_transporter_CS # InterPro IPR026082 ABC_A # InterPro IPR027417 P-loop_NTPase # InterPro IPR030367 ABCA5 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02000 Transporters # KEGG_Pathway ko02010 ABC transporters # MIM 612503 gene # Organism ABCA5_HUMAN Homo sapiens (Human) # Orphanet 2026 Gingival fibromatosis-hypertrichosis syndrome # PANTHER PTHR19229 PTHR19229 # PANTHER PTHR19229:SF100 PTHR19229:SF100 # PROSITE PS00211 ABC_TRANSPORTER_1 # PROSITE PS50893 ABC_TRANSPORTER_2; 2 # PTM ABCA5_HUMAN N-glycosylated. {ECO 0000250}. # Pfam PF00005 ABC_tran; 2 # Proteomes UP000005640 Chromosome 17 # Reactome R-HSA-1369062 ABC transporters in lipid homeostasis # RecName ABCA5_HUMAN ATP-binding cassette sub-family A member 5 # RefSeq NP_061142 NM_018672.4. [Q8WWZ7-1] # RefSeq NP_758424 NM_172232.3. [Q8WWZ7-1] # SEQUENCE CAUTION Sequence=BAB71700.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the ABC transporter superfamily. ABCA family. {ECO 0000305}. # SIMILARITY Contains 2 ABC transporter domains. {ECO:0000255|PROSITE-ProRule PRU00434}. # SMART SM00382 AAA; 2 # SUBCELLULAR LOCATION ABCA5_HUMAN Lysosome membrane; Multi-pass membrane protein. Late endosome membrane; Multi-pass membrane protein. Golgi apparatus membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. # SUPFAM SSF52540 SSF52540; 2 # TCDB 3.A.1.211 the atp-binding cassette (abc) superfamily # TISSUE SPECIFICITY Ubiquitously expressed. Highly expressed in testis, skeletal muscle, kidney, liver and placenta. {ECO:0000269|PubMed 12504089, ECO:0000269|Ref.1}. # UCSC uc002jif human. [Q8WWZ7-1] # WEB RESOURCE ABCA5_HUMAN Name=ABCMdb; Note=Database for mutations in ABC proteins; URL="http //abcmutations.hegelab.org/proteinDetails?uniprot_id=Q8WWZ7"; # eggNOG COG1131 LUCA # eggNOG KOG0059 Eukaryota BLAST swissprot:ABCA5_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ABCA5_HUMAN BioCyc ZFISH:ENSG00000154265-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000154265-MONOMER COXPRESdb 23461 http://coxpresdb.jp/data/gene/23461.shtml CleanEx HS_ABCA5 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ABCA5 DOI 10.1016/S0006-291X(02)02827-9 http://dx.doi.org/10.1016/S0006-291X(02)02827-9 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1093/dnares/8.4.179 http://dx.doi.org/10.1093/dnares/8.4.179 DrugBank DB00864 http://www.drugbank.ca/drugs/DB00864 EMBL AB067475 http://www.ebi.ac.uk/ena/data/view/AB067475 EMBL AJ275973 http://www.ebi.ac.uk/ena/data/view/AJ275973 EMBL AJ512612 http://www.ebi.ac.uk/ena/data/view/AJ512612 EMBL AK056533 http://www.ebi.ac.uk/ena/data/view/AK056533 EMBL AK058170 http://www.ebi.ac.uk/ena/data/view/AK058170 EMBL AY028897 http://www.ebi.ac.uk/ena/data/view/AY028897 Ensembl ENST00000392676 http://www.ensembl.org/id/ENST00000392676 Ensembl ENST00000588877 http://www.ensembl.org/id/ENST00000588877 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000139 GO_component GO:0005764 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005764 GO_component GO:0005765 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005765 GO_component GO:0005770 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005770 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0031902 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031902 GO_component GO:0043231 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043231 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0042626 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042626 GO_process GO:0006869 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006869 GO_process GO:0010745 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010745 GO_process GO:0033344 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033344 GO_process GO:0034375 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034375 GO_process GO:0043691 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043691 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005764 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005764 GOslim_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 Gene3D 3.40.50.300 http://www.cathdb.info/version/latest/superfamily/3.40.50.300 GeneCards ABCA5 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ABCA5 GeneID 23461 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=23461 GeneTree ENSGT00760000118965 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118965 HGNC HGNC:35 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:35 HOGENOM HOG000231057 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231057&db=HOGENOM6 HOVERGEN HBG079884 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG079884&db=HOVERGEN HPA HPA022032 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA022032 HPA HPA062904 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA062904 InParanoid Q8WWZ7 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8WWZ7 IntAct Q8WWZ7 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q8WWZ7* InterPro IPR003439 http://www.ebi.ac.uk/interpro/entry/IPR003439 InterPro IPR003593 http://www.ebi.ac.uk/interpro/entry/IPR003593 InterPro IPR017871 http://www.ebi.ac.uk/interpro/entry/IPR017871 InterPro IPR026082 http://www.ebi.ac.uk/interpro/entry/IPR026082 InterPro IPR027417 http://www.ebi.ac.uk/interpro/entry/IPR027417 InterPro IPR030367 http://www.ebi.ac.uk/interpro/entry/IPR030367 Jabion 23461 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=23461 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Gene hsa:23461 http://www.genome.jp/dbget-bin/www_bget?hsa:23461 KEGG_Orthology KO:K05648 http://www.genome.jp/dbget-bin/www_bget?KO:K05648 KEGG_Pathway ko02010 http://www.genome.jp/kegg-bin/show_pathway?ko02010 MIM 612503 http://www.ncbi.nlm.nih.gov/omim/612503 OMA YIDRYCA http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=YIDRYCA Orphanet 2026 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=2026 OrthoDB EOG091G00AG http://cegg.unige.ch/orthodb/results?searchtext=EOG091G00AG PANTHER PTHR19229 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR19229 PANTHER PTHR19229:SF100 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR19229:SF100 PROSITE PS00211 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00211 PROSITE PS50893 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50893 PSORT swissprot:ABCA5_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ABCA5_HUMAN PSORT-B swissprot:ABCA5_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ABCA5_HUMAN PSORT2 swissprot:ABCA5_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ABCA5_HUMAN Pfam PF00005 http://pfam.xfam.org/family/PF00005 PharmGKB PA24380 http://www.pharmgkb.org/do/serve?objId=PA24380&objCls=Gene Phobius swissprot:ABCA5_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ABCA5_HUMAN PhylomeDB Q8WWZ7 http://phylomedb.org/?seqid=Q8WWZ7 ProteinModelPortal Q8WWZ7 http://www.proteinmodelportal.org/query/uniprot/Q8WWZ7 PubMed 11572484 http://www.ncbi.nlm.nih.gov/pubmed/11572484 PubMed 12504089 http://www.ncbi.nlm.nih.gov/pubmed/12504089 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 Reactome R-HSA-1369062 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1369062 RefSeq NP_061142 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_061142 RefSeq NP_758424 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_758424 SMART SM00382 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00382 SMR Q8WWZ7 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q8WWZ7 STRING 9606.ENSP00000376443 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000376443&targetmode=cogs SUPFAM SSF52540 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52540 TCDB 3.A.1.211 http://www.tcdb.org/search/result.php?tc=3.A.1.211 UCSC uc002jif http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002jif&org=rat UniGene Hs.731824 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.731824 UniProtKB ABCA5_HUMAN http://www.uniprot.org/uniprot/ABCA5_HUMAN UniProtKB-AC Q8WWZ7 http://www.uniprot.org/uniprot/Q8WWZ7 charge swissprot:ABCA5_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ABCA5_HUMAN eggNOG COG1131 http://eggnogapi.embl.de/nog_data/html/tree/COG1131 eggNOG KOG0059 http://eggnogapi.embl.de/nog_data/html/tree/KOG0059 epestfind swissprot:ABCA5_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ABCA5_HUMAN garnier swissprot:ABCA5_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ABCA5_HUMAN helixturnhelix swissprot:ABCA5_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ABCA5_HUMAN hmoment swissprot:ABCA5_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ABCA5_HUMAN iep swissprot:ABCA5_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ABCA5_HUMAN inforesidue swissprot:ABCA5_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ABCA5_HUMAN neXtProt NX_Q8WWZ7 http://www.nextprot.org/db/entry/NX_Q8WWZ7 octanol swissprot:ABCA5_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ABCA5_HUMAN pepcoil swissprot:ABCA5_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ABCA5_HUMAN pepdigest swissprot:ABCA5_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ABCA5_HUMAN pepinfo swissprot:ABCA5_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ABCA5_HUMAN pepnet swissprot:ABCA5_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ABCA5_HUMAN pepstats swissprot:ABCA5_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ABCA5_HUMAN pepwheel swissprot:ABCA5_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ABCA5_HUMAN pepwindow swissprot:ABCA5_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ABCA5_HUMAN sigcleave swissprot:ABCA5_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ABCA5_HUMAN ## Database ID URL or Descriptions # AltName CCG3_HUMAN Neuronal voltage-gated calcium channel gamma-3 subunit # AltName CCG3_HUMAN Transmembrane AMPAR regulatory protein gamma-3 # BioGrid 115647 3 # Ensembl ENST00000005284 ENSP00000005284; ENSG00000006116 # FUNCTION CCG3_HUMAN Regulates the trafficking and gating properties of AMPA- selective glutamate receptors (AMPARs). Promotes their targeting to the cell membrane and synapses and modulates their gating properties by slowing their rates of activation, deactivation and desensitization. Does not show subunit-specific AMPA receptor regulation and regulates all AMPAR subunits. Thought to stabilize the calcium channel in an inactivated (closed) state (By similarity). {ECO 0000250}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005891 voltage-gated calcium channel complex; NAS:UniProtKB. # GO_component GO:0030666 endocytic vesicle membrane; TAS:Reactome. # GO_component GO:0032281 AMPA glutamate receptor complex; ISS:UniProtKB. # GO_function GO:0005245 voltage-gated calcium channel activity; NAS:UniProtKB. # GO_function GO:0016247 channel regulator activity; IBA:GO_Central. # GO_process GO:0006816 calcium ion transport; NAS:UniProtKB. # GO_process GO:0019226 transmission of nerve impulse; IBA:GO_Central. # GO_process GO:0061337 cardiac conduction; TAS:Reactome. # GO_process GO:0070588 calcium ion transmembrane transport; IBA:GO_Central. # GO_process GO:2000311 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity; ISS:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0050877 neurological system process # GOslim_process GO:0055085 transmembrane transport # Genevisible O60359 HS # HGNC HGNC:1407 CACNG3 # InterPro IPR004031 PMP22/EMP/MP20/Claudin # InterPro IPR008368 VDCC_gsu # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04010 MAPK signaling pathway # KEGG_Pathway ko04260 Cardiac muscle contraction # KEGG_Pathway ko05410 Hypertrophic cardiomyopathy (HCM) # KEGG_Pathway ko05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC) # KEGG_Pathway ko05414 Dilated cardiomyopathy # MIM 606403 gene # Organism CCG3_HUMAN Homo sapiens (Human) # PRINTS PR01792 VDCCGAMMA # Pfam PF00822 PMP22_Claudin # Proteomes UP000005640 Chromosome 16 # Reactome R-HSA-399719 Trafficking of AMPA receptors # Reactome R-HSA-5576892 Phase 0 - rapid depolarisation # Reactome R-HSA-5576893 Phase 2 - plateau phase # Reactome R-HSA-5576894 Phase 1 - inactivation of fast Na+ channels # Reactome R-HSA-5682910 LGI-ADAM interactions # RecName CCG3_HUMAN Voltage-dependent calcium channel gamma-3 subunit # RefSeq NP_006530 NM_006539.3 # SIMILARITY Belongs to the PMP-22/EMP/MP20 family. CACNG subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION CCG3_HUMAN Membrane; Multi-pass membrane protein. # SUBUNIT The L-type calcium channel is composed of five subunits: alpha-1, alpha-2/delta, beta and gamma. Acts as an auxiliary subunit for AMPA-selective glutamate receptors (AMPARs). Found in a complex with GRIA1, GRIA2, GRIA3, GRIA4, CNIH2, CNIH3, CACNG2, CACNG4, CACNG5, CACNG7 and CACNG8 (By similarity). {ECO 0000250}. # TCDB 8.A.16.2 the ca(+) channel auxiliary subunit Gama1-Gama8 (ccaGama) family # UCSC uc002dmf human # eggNOG ENOG410IFNQ Eukaryota # eggNOG ENOG4110ISU LUCA BLAST swissprot:CCG3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CCG3_HUMAN BioCyc ZFISH:ENSG00000006116-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000006116-MONOMER COXPRESdb 10368 http://coxpresdb.jp/data/gene/10368.shtml CleanEx HS_CACNG3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CACNG3 DOI 10.1006/geno.1999.5927 http://dx.doi.org/10.1006/geno.1999.5927 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.4065/74.4.357 http://dx.doi.org/10.4065/74.4.357 EMBL AC004125 http://www.ebi.ac.uk/ena/data/view/AC004125 EMBL AF100346 http://www.ebi.ac.uk/ena/data/view/AF100346 EMBL AF114832 http://www.ebi.ac.uk/ena/data/view/AF114832 EMBL AF134640 http://www.ebi.ac.uk/ena/data/view/AF134640 EMBL BC037899 http://www.ebi.ac.uk/ena/data/view/BC037899 EMBL BC040005 http://www.ebi.ac.uk/ena/data/view/BC040005 Ensembl ENST00000005284 http://www.ensembl.org/id/ENST00000005284 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005891 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005891 GO_component GO:0030666 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030666 GO_component GO:0032281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032281 GO_function GO:0005245 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005245 GO_function GO:0016247 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016247 GO_process GO:0006816 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006816 GO_process GO:0019226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019226 GO_process GO:0061337 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061337 GO_process GO:0070588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070588 GO_process GO:2000311 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000311 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards CACNG3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CACNG3 GeneID 10368 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=10368 GeneTree ENSGT00550000074547 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074547 HGNC HGNC:1407 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:1407 HOGENOM HOG000233440 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000233440&db=HOGENOM6 HOVERGEN HBG003682 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG003682&db=HOVERGEN HPA HPA059010 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA059010 InParanoid O60359 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O60359 InterPro IPR004031 http://www.ebi.ac.uk/interpro/entry/IPR004031 InterPro IPR008368 http://www.ebi.ac.uk/interpro/entry/IPR008368 Jabion 10368 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=10368 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:10368 http://www.genome.jp/dbget-bin/www_bget?hsa:10368 KEGG_Orthology KO:K04868 http://www.genome.jp/dbget-bin/www_bget?KO:K04868 KEGG_Pathway ko04010 http://www.genome.jp/kegg-bin/show_pathway?ko04010 KEGG_Pathway ko04260 http://www.genome.jp/kegg-bin/show_pathway?ko04260 KEGG_Pathway ko05410 http://www.genome.jp/kegg-bin/show_pathway?ko05410 KEGG_Pathway ko05412 http://www.genome.jp/kegg-bin/show_pathway?ko05412 KEGG_Pathway ko05414 http://www.genome.jp/kegg-bin/show_pathway?ko05414 MIM 606403 http://www.ncbi.nlm.nih.gov/omim/606403 OMA LNSERDH http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=LNSERDH OrthoDB EOG091G0D2Z http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0D2Z PRINTS PR01792 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01792 PSORT swissprot:CCG3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CCG3_HUMAN PSORT-B swissprot:CCG3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CCG3_HUMAN PSORT2 swissprot:CCG3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CCG3_HUMAN Pfam PF00822 http://pfam.xfam.org/family/PF00822 PharmGKB PA26017 http://www.pharmgkb.org/do/serve?objId=PA26017&objCls=Gene Phobius swissprot:CCG3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CCG3_HUMAN PhylomeDB O60359 http://phylomedb.org/?seqid=O60359 ProteinModelPortal O60359 http://www.proteinmodelportal.org/query/uniprot/O60359 PubMed 10221464 http://www.ncbi.nlm.nih.gov/pubmed/10221464 PubMed 10493829 http://www.ncbi.nlm.nih.gov/pubmed/10493829 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 Reactome R-HSA-399719 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-399719 Reactome R-HSA-5576892 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576892 Reactome R-HSA-5576893 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576893 Reactome R-HSA-5576894 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576894 Reactome R-HSA-5682910 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5682910 RefSeq NP_006530 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_006530 STRING 9606.ENSP00000005284 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000005284&targetmode=cogs TCDB 8.A.16.2 http://www.tcdb.org/search/result.php?tc=8.A.16.2 UCSC uc002dmf http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002dmf&org=rat UniGene Hs.7235 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.7235 UniProtKB CCG3_HUMAN http://www.uniprot.org/uniprot/CCG3_HUMAN UniProtKB-AC O60359 http://www.uniprot.org/uniprot/O60359 charge swissprot:CCG3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CCG3_HUMAN eggNOG ENOG410IFNQ http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IFNQ eggNOG ENOG4110ISU http://eggnogapi.embl.de/nog_data/html/tree/ENOG4110ISU epestfind swissprot:CCG3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CCG3_HUMAN garnier swissprot:CCG3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CCG3_HUMAN helixturnhelix swissprot:CCG3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CCG3_HUMAN hmoment swissprot:CCG3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CCG3_HUMAN iep swissprot:CCG3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CCG3_HUMAN inforesidue swissprot:CCG3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CCG3_HUMAN neXtProt NX_O60359 http://www.nextprot.org/db/entry/NX_O60359 octanol swissprot:CCG3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CCG3_HUMAN pepcoil swissprot:CCG3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CCG3_HUMAN pepdigest swissprot:CCG3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CCG3_HUMAN pepinfo swissprot:CCG3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CCG3_HUMAN pepnet swissprot:CCG3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CCG3_HUMAN pepstats swissprot:CCG3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CCG3_HUMAN pepwheel swissprot:CCG3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CCG3_HUMAN pepwindow swissprot:CCG3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CCG3_HUMAN sigcleave swissprot:CCG3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CCG3_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS ASIC3_HUMAN Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q9UHC3-1; Sequence=Displayed; Name=2; Synonyms=ASIC3b; IsoId=Q9UHC3-2; Sequence=VSP_015602; Name=3; Synonyms=ASIC3c; IsoId=Q9UHC3-3; Sequence=VSP_015603; Name=4; Synonyms=c; IsoId=Q9UHC3-4; Sequence=VSP_015600, VSP_015601; # AltName ASIC3_HUMAN Amiloride-sensitive cation channel 3 # AltName ASIC3_HUMAN Neuronal amiloride-sensitive cation channel 3 # AltName ASIC3_HUMAN Testis sodium channel 1 # BioGrid 114723 7 # CCDS CCDS5914 -. [Q9UHC3-2] # CCDS CCDS5915 -. [Q9UHC3-3] # CCDS CCDS5916 -. [Q9UHC3-1] # ChiTaRS ASIC3 human # DEVELOPMENTAL STAGE Expressed in fetal tissues, expression increases in lung and kidney adult tissues. {ECO:0000269|PubMed 9886053}. # DOMAIN ASIC3_HUMAN The PDZ domain-binding motif is involved in interaction with LIN7A, GOPC and MAGI1. # Ensembl ENST00000297512 ENSP00000297512; ENSG00000213199. [Q9UHC3-3] # Ensembl ENST00000349064 ENSP00000344838; ENSG00000213199. [Q9UHC3-1] # Ensembl ENST00000357922 ENSP00000350600; ENSG00000213199. [Q9UHC3-2] # Ensembl ENST00000377904 ENSP00000367136; ENSG00000213199. [Q9UHC3-4] # Ensembl ENST00000468325 ENSP00000418605; ENSG00000213199. [Q9UHC3-4] # ExpressionAtlas Q9UHC3 baseline and differential # FUNCTION ASIC3_HUMAN Cation channel with high affinity for sodium, which is gated by extracellular protons and inhibited by the diuretic amiloride. Generates a biphasic current with a fast inactivating and a slow sustained phase. In sensory neurons is proposed to mediate the pain induced by acidosis that occurs in ischemic, damaged or inflamed tissue. May be involved in hyperalgesia. May play a role in mechanoreception. Heteromeric channel assembly seems to modulate channel properties. {ECO 0000269|PubMed 9744806, ECO 0000269|PubMed 9886053}. # GO_component GO:0005737 cytoplasm; IEA:UniProtKB-SubCell. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_function GO:0005261 cation channel activity; TAS:ProtInc. # GO_function GO:0005272 sodium channel activity; TAS:ProtInc. # GO_function GO:0042931 enterobactin transporter activity; IEA:Ensembl. # GO_function GO:0044736 acid-sensing ion channel activity; TAS:Reactome. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0007165 signal transduction; TAS:ProtInc. # GO_process GO:0007600 sensory perception; TAS:ProtInc. # GO_process GO:0009408 response to heat; IEA:Ensembl. # GO_process GO:0010447 response to acidic pH; IEA:Ensembl. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0050915 sensory perception of sour taste; IMP:UniProtKB. # GO_process GO:0050965 detection of temperature stimulus involved in sensory perception of pain; IEA:Ensembl. # GO_process GO:0050966 detection of mechanical stimulus involved in sensory perception of pain; IEA:Ensembl. # GO_process GO:0050968 detection of chemical stimulus involved in sensory perception of pain; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0050877 neurological system process # GOslim_process GO:0055085 transmembrane transport # Genevisible Q9UHC3 HS # HGNC HGNC:101 ASIC3 # InterPro IPR001873 Na+channel_ASC # InterPro IPR004724 ENaC # InterPro IPR020903 Na+channel_ASC_CS # KEGG_Brite ko04040 Ion channels # MIM 611741 gene # MISCELLANEOUS Potentiated by FMRFamide-related neuropeptides. Sensitized and potentiated by NPSF. Regulated by lactate and Ca(2+). Inhibited by anti-inflammatory drugs, like salicylic acid (By similarity). Sensitized and potentiated by NPFF. {ECO 0000250}. # Organism ASIC3_HUMAN Homo sapiens (Human) # PANTHER PTHR11690 PTHR11690 # PIR JE0091 JE0091 # PRINTS PR01078 AMINACHANNEL # PROSITE PS01206 ASC # PTM ASIC3_HUMAN Phosphorylated by PKA. Phosphorylated by PKC. In vitro, PRKCABP/PICK-1 is necessary for PKC phosphorylation and activation of a ASIC3/ACCN3-ASIC2/ASIC2b channel, but does not activate a homomeric ASIC3 channel (By similarity). {ECO 0000250}. # Pfam PF00858 ASC # Proteomes UP000005640 Chromosome 7 # Reactome R-HSA-2672351 Stimuli-sensing channels # RecName ASIC3_HUMAN Acid-sensing ion channel 3 # RefSeq NP_004760 NM_004769.3. [Q9UHC3-1] # RefSeq NP_064717 NM_020321.3. [Q9UHC3-3] # RefSeq NP_064718 NM_020322.3. [Q9UHC3-2] # SEQUENCE CAUTION Sequence=BAA25897.1; Type=Frameshift; Positions=303, 305, 313; Evidence={ECO:0000305}; Sequence=BAD92658.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family. ASIC3 subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION ASIC3_HUMAN Cell membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. Cytoplasm {ECO 0000250}. Note=Cell surface expression may be stabilized by interaction with LIN7B and cytoplasmic retention by interaction with DLG4. In part cytoplasmic in cochlea cells (By similarity). {ECO 0000250}. # SUBUNIT ASIC3_HUMAN Homotrimer or heterotrimer with other ASIC proteins (By similarity). Interacts with STOM; this regulates channel activity. Interacts with DLG4 (By similarity). Interacts with LIN7B, MAGI1/BAIAP1, GOPC and ASIC2. {ECO 0000250, ECO 0000269|PubMed 10842183, ECO 0000269|PubMed 15317815}. # TIGRFAMs TIGR00859 ENaC # TISSUE SPECIFICITY ASIC3_HUMAN Expressed by sensory neurons. Strongly expressed in brain, spinal chord, lung, lymph nodes, kidney, pituitary, heart and testis. {ECO 0000269|PubMed 9571199, ECO 0000269|PubMed 9886053}. # UCSC uc003win human. [Q9UHC3-1] # eggNOG ENOG410ZNFK LUCA # eggNOG KOG4294 Eukaryota BLAST swissprot:ASIC3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ASIC3_HUMAN BioCyc ZFISH:G66-32073-MONOMER http://biocyc.org/getid?id=ZFISH:G66-32073-MONOMER COXPRESdb 9311 http://coxpresdb.jp/data/gene/9311.shtml CleanEx HS_ACCN3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ACCN3 DOI 10.1006/bbrc.1998.8483 http://dx.doi.org/10.1006/bbrc.1998.8483 DOI 10.1016/S0014-5793(98)00916-8 http://dx.doi.org/10.1016/S0014-5793(98)00916-8 DOI 10.1016/S0028-3908(01)00107-1 http://dx.doi.org/10.1016/S0028-3908(01)00107-1 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1046/j.1471-4159.1999.0720051.x http://dx.doi.org/10.1046/j.1471-4159.1999.0720051.x DOI 10.1073/pnas.252782799 http://dx.doi.org/10.1073/pnas.252782799 DOI 10.1074/jbc.M004114200 http://dx.doi.org/10.1074/jbc.M004114200 DOI 10.1074/jbc.M405874200 http://dx.doi.org/10.1074/jbc.M405874200 EMBL AB010575 http://www.ebi.ac.uk/ena/data/view/AB010575 EMBL AB209421 http://www.ebi.ac.uk/ena/data/view/AB209421 EMBL AF057711 http://www.ebi.ac.uk/ena/data/view/AF057711 EMBL AF095897 http://www.ebi.ac.uk/ena/data/view/AF095897 EMBL AF195024 http://www.ebi.ac.uk/ena/data/view/AF195024 EMBL AF195025 http://www.ebi.ac.uk/ena/data/view/AF195025 EMBL AK313926 http://www.ebi.ac.uk/ena/data/view/AK313926 EMBL CH471173 http://www.ebi.ac.uk/ena/data/view/CH471173 Ensembl ENST00000297512 http://www.ensembl.org/id/ENST00000297512 Ensembl ENST00000349064 http://www.ensembl.org/id/ENST00000349064 Ensembl ENST00000357922 http://www.ensembl.org/id/ENST00000357922 Ensembl ENST00000377904 http://www.ensembl.org/id/ENST00000377904 Ensembl ENST00000468325 http://www.ensembl.org/id/ENST00000468325 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0005261 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005261 GO_function GO:0005272 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005272 GO_function GO:0042931 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042931 GO_function GO:0044736 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044736 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GO_process GO:0007600 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007600 GO_process GO:0009408 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009408 GO_process GO:0010447 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010447 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0050915 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050915 GO_process GO:0050965 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050965 GO_process GO:0050966 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050966 GO_process GO:0050968 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050968 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards ASIC3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ASIC3 GeneID 9311 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=9311 GeneTree ENSGT00760000119120 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119120 HGNC HGNC:101 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:101 HOVERGEN HBG004150 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG004150&db=HOVERGEN HPA HPA049155 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA049155 InParanoid Q9UHC3 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9UHC3 InterPro IPR001873 http://www.ebi.ac.uk/interpro/entry/IPR001873 InterPro IPR004724 http://www.ebi.ac.uk/interpro/entry/IPR004724 InterPro IPR020903 http://www.ebi.ac.uk/interpro/entry/IPR020903 Jabion 9311 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=9311 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:9311 http://www.genome.jp/dbget-bin/www_bget?hsa:9311 KEGG_Orthology KO:K04830 http://www.genome.jp/dbget-bin/www_bget?KO:K04830 MIM 611741 http://www.ncbi.nlm.nih.gov/omim/611741 OMA TCPNPCA http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=TCPNPCA PANTHER PTHR11690 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11690 PRINTS PR01078 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01078 PROSITE PS01206 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS01206 PSORT swissprot:ASIC3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ASIC3_HUMAN PSORT-B swissprot:ASIC3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ASIC3_HUMAN PSORT2 swissprot:ASIC3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ASIC3_HUMAN Pfam PF00858 http://pfam.xfam.org/family/PF00858 PharmGKB PA24435 http://www.pharmgkb.org/do/serve?objId=PA24435&objCls=Gene Phobius swissprot:ASIC3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ASIC3_HUMAN PhylomeDB Q9UHC3 http://phylomedb.org/?seqid=Q9UHC3 ProteinModelPortal Q9UHC3 http://www.proteinmodelportal.org/query/uniprot/Q9UHC3 PubMed 10842183 http://www.ncbi.nlm.nih.gov/pubmed/10842183 PubMed 11587714 http://www.ncbi.nlm.nih.gov/pubmed/11587714 PubMed 12578970 http://www.ncbi.nlm.nih.gov/pubmed/12578970 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15317815 http://www.ncbi.nlm.nih.gov/pubmed/15317815 PubMed 9571199 http://www.ncbi.nlm.nih.gov/pubmed/9571199 PubMed 9744806 http://www.ncbi.nlm.nih.gov/pubmed/9744806 PubMed 9886053 http://www.ncbi.nlm.nih.gov/pubmed/9886053 Reactome R-HSA-2672351 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2672351 RefSeq NP_004760 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004760 RefSeq NP_064717 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_064717 RefSeq NP_064718 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_064718 SMR Q9UHC3 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9UHC3 STRING 9606.ENSP00000297512 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000297512&targetmode=cogs TIGRFAMs TIGR00859 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00859 UCSC uc003win http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003win&org=rat UniGene Hs.647113 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.647113 UniProtKB ASIC3_HUMAN http://www.uniprot.org/uniprot/ASIC3_HUMAN UniProtKB-AC Q9UHC3 http://www.uniprot.org/uniprot/Q9UHC3 charge swissprot:ASIC3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ASIC3_HUMAN eggNOG ENOG410ZNFK http://eggnogapi.embl.de/nog_data/html/tree/ENOG410ZNFK eggNOG KOG4294 http://eggnogapi.embl.de/nog_data/html/tree/KOG4294 epestfind swissprot:ASIC3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ASIC3_HUMAN garnier swissprot:ASIC3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ASIC3_HUMAN helixturnhelix swissprot:ASIC3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ASIC3_HUMAN hmoment swissprot:ASIC3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ASIC3_HUMAN iep swissprot:ASIC3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ASIC3_HUMAN inforesidue swissprot:ASIC3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ASIC3_HUMAN neXtProt NX_Q9UHC3 http://www.nextprot.org/db/entry/NX_Q9UHC3 octanol swissprot:ASIC3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ASIC3_HUMAN pepcoil swissprot:ASIC3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ASIC3_HUMAN pepdigest swissprot:ASIC3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ASIC3_HUMAN pepinfo swissprot:ASIC3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ASIC3_HUMAN pepnet swissprot:ASIC3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ASIC3_HUMAN pepstats swissprot:ASIC3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ASIC3_HUMAN pepwheel swissprot:ASIC3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ASIC3_HUMAN pepwindow swissprot:ASIC3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ASIC3_HUMAN sigcleave swissprot:ASIC3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ASIC3_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S39A9_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9NUM3-1; Sequence=Displayed; Name=2; IsoId=Q9NUM3-2; Sequence=VSP_027302; Name=3; IsoId=Q9NUM3-3; Sequence=VSP_054057, VSP_054058; # AltName S39A9_HUMAN Solute carrier family 39 member 9 # AltName S39A9_HUMAN Zrt- and Irt-like protein 9 # BioGrid 120615 44 # CCDS CCDS58327 -. [Q9NUM3-3] # CCDS CCDS58328 -. [Q9NUM3-2] # CCDS CCDS9795 -. [Q9NUM3-1] # ChiTaRS SLC39A9 human # Ensembl ENST00000336643 ENSP00000336887; ENSG00000029364. [Q9NUM3-1] # Ensembl ENST00000555840 ENSP00000450639; ENSG00000029364. [Q9NUM3-1] # Ensembl ENST00000556605 ENSP00000452385; ENSG00000029364. [Q9NUM3-3] # Ensembl ENST00000557046 ENSP00000451833; ENSG00000029364. [Q9NUM3-2] # ExpressionAtlas Q9NUM3 baseline and differential # FUNCTION S39A9_HUMAN May act as a zinc-influx transporter. {ECO 0000250}. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0046873 metal ion transmembrane transporter activity; IEA:InterPro. # GO_process GO:0006829 zinc II ion transport; IEA:UniProtKB-KW. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # Genevisible Q9NUM3 HS # HGNC HGNC:20182 SLC39A9 # InterPro IPR003689 ZIP # KEGG_Brite ko02001 Solute carrier family # Organism S39A9_HUMAN Homo sapiens (Human) # Pfam PF02535 Zip # Proteomes UP000005640 Chromosome 14 # RecName S39A9_HUMAN Zinc transporter ZIP9 # RefSeq NP_001239077 NM_001252148.1. [Q9NUM3-2] # RefSeq NP_001239079 NM_001252150.1. [Q9NUM3-3] # RefSeq NP_001239080 NM_001252151.1 # RefSeq NP_001239081 NM_001252152.1 # RefSeq NP_060845 NM_018375.4. [Q9NUM3-1] # SIMILARITY Belongs to the ZIP transporter (TC 2.A.5) family. {ECO 0000305}. # SUBCELLULAR LOCATION S39A9_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # TCDB 2.A.5.6 the zinc (zn(2+))-iron (fe(2+)) permease (zip) family # TopDownProteomics Q9NUM3-2 -. [Q9NUM3-2] # UCSC uc001xle human. [Q9NUM3-1] # eggNOG ENOG410XQG5 LUCA # eggNOG KOG3907 Eukaryota BLAST swissprot:S39A9_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S39A9_HUMAN BioCyc ZFISH:ENSG00000029364-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000029364-MONOMER COXPRESdb 55334 http://coxpresdb.jp/data/gene/55334.shtml CleanEx HS_SLC39A9 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC39A9 DOI 10.1038/nature01348 http://dx.doi.org/10.1038/nature01348 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.1293003 http://dx.doi.org/10.1101/gr.1293003 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AK002136 http://www.ebi.ac.uk/ena/data/view/AK002136 EMBL AK222547 http://www.ebi.ac.uk/ena/data/view/AK222547 EMBL AL157996 http://www.ebi.ac.uk/ena/data/view/AL157996 EMBL AY358687 http://www.ebi.ac.uk/ena/data/view/AY358687 EMBL AY780789 http://www.ebi.ac.uk/ena/data/view/AY780789 EMBL BC047682 http://www.ebi.ac.uk/ena/data/view/BC047682 EMBL BC064383 http://www.ebi.ac.uk/ena/data/view/BC064383 Ensembl ENST00000336643 http://www.ensembl.org/id/ENST00000336643 Ensembl ENST00000555840 http://www.ensembl.org/id/ENST00000555840 Ensembl ENST00000556605 http://www.ensembl.org/id/ENST00000556605 Ensembl ENST00000557046 http://www.ensembl.org/id/ENST00000557046 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0046873 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046873 GO_process GO:0006829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006829 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GeneCards SLC39A9 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC39A9 GeneID 55334 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=55334 GeneTree ENSGT00390000010094 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000010094 H-InvDB HIX0011767 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0011767 HGNC HGNC:20182 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:20182 HOGENOM HOG000164405 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000164405&db=HOGENOM6 HOVERGEN HBG055074 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG055074&db=HOVERGEN HPA HPA007921 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA007921 InParanoid Q9NUM3 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9NUM3 IntAct Q9NUM3 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9NUM3* InterPro IPR003689 http://www.ebi.ac.uk/interpro/entry/IPR003689 Jabion 55334 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=55334 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:55334 http://www.genome.jp/dbget-bin/www_bget?hsa:55334 KEGG_Orthology KO:K14715 http://www.genome.jp/dbget-bin/www_bget?KO:K14715 OMA SELIIMI http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=SELIIMI OrthoDB EOG091G0IZE http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0IZE PSORT swissprot:S39A9_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S39A9_HUMAN PSORT-B swissprot:S39A9_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S39A9_HUMAN PSORT2 swissprot:S39A9_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S39A9_HUMAN Pfam PF02535 http://pfam.xfam.org/family/PF02535 PharmGKB PA134889179 http://www.pharmgkb.org/do/serve?objId=PA134889179&objCls=Gene Phobius swissprot:S39A9_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S39A9_HUMAN PhylomeDB Q9NUM3 http://phylomedb.org/?seqid=Q9NUM3 ProteinModelPortal Q9NUM3 http://www.proteinmodelportal.org/query/uniprot/Q9NUM3 PubMed 12508121 http://www.ncbi.nlm.nih.gov/pubmed/12508121 PubMed 12975309 http://www.ncbi.nlm.nih.gov/pubmed/12975309 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 RefSeq NP_001239077 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001239077 RefSeq NP_001239079 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001239079 RefSeq NP_001239080 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001239080 RefSeq NP_001239081 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001239081 RefSeq NP_060845 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_060845 STRING 9606.ENSP00000336887 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000336887&targetmode=cogs TCDB 2.A.5.6 http://www.tcdb.org/search/result.php?tc=2.A.5.6 UCSC uc001xle http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001xle&org=rat UniGene Hs.432690 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.432690 UniProtKB S39A9_HUMAN http://www.uniprot.org/uniprot/S39A9_HUMAN UniProtKB-AC Q9NUM3 http://www.uniprot.org/uniprot/Q9NUM3 charge swissprot:S39A9_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S39A9_HUMAN eggNOG ENOG410XQG5 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XQG5 eggNOG KOG3907 http://eggnogapi.embl.de/nog_data/html/tree/KOG3907 epestfind swissprot:S39A9_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S39A9_HUMAN garnier swissprot:S39A9_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S39A9_HUMAN helixturnhelix swissprot:S39A9_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S39A9_HUMAN hmoment swissprot:S39A9_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S39A9_HUMAN iep swissprot:S39A9_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S39A9_HUMAN inforesidue swissprot:S39A9_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S39A9_HUMAN neXtProt NX_Q9NUM3 http://www.nextprot.org/db/entry/NX_Q9NUM3 octanol swissprot:S39A9_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S39A9_HUMAN pepcoil swissprot:S39A9_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S39A9_HUMAN pepdigest swissprot:S39A9_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S39A9_HUMAN pepinfo swissprot:S39A9_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S39A9_HUMAN pepnet swissprot:S39A9_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S39A9_HUMAN pepstats swissprot:S39A9_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S39A9_HUMAN pepwheel swissprot:S39A9_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S39A9_HUMAN pepwindow swissprot:S39A9_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S39A9_HUMAN sigcleave swissprot:S39A9_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S39A9_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS TMCO3_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q6UWJ1-1; Sequence=Displayed; Name=2; IsoId=Q6UWJ1-2; Sequence=VSP_020563, VSP_020564; Note=No experimental confirmation available.; Name=3; IsoId=Q6UWJ1-3; Sequence=VSP_020561, VSP_020562; Note=No experimental confirmation available.; # AltName TMCO3_HUMAN Putative LAG1-interacting protein # BioGrid 120334 38 # CCDS CCDS9537 -. [Q6UWJ1-1] # ChiTaRS TMCO3 human # Ensembl ENST00000375391 ENSP00000364540; ENSG00000150403. [Q6UWJ1-3] # Ensembl ENST00000434316 ENSP00000389399; ENSG00000150403. [Q6UWJ1-1] # Ensembl ENST00000474393 ENSP00000484053; ENSG00000150403. [Q6UWJ1-2] # ExpressionAtlas Q6UWJ1 baseline and differential # FUNCTION TMCO3_HUMAN Probable Na(+)/H(+) antiporter. {ECO 0000250}. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function TMCO3_HUMAN GO 0015299 solute proton antiporter activity; IEA InterPro. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # Genevisible Q6UWJ1 HS # HGNC HGNC:20329 TMCO3 # IntAct Q6UWJ1 4 # InterPro IPR006153 Cation/H_exchanger # MIM 617134 gene # Organism TMCO3_HUMAN Homo sapiens (Human) # Pfam PF00999 Na_H_Exchanger # Proteomes UP000005640 Chromosome 13 # RecName TMCO3_HUMAN Transmembrane and coiled-coil domain-containing protein 3 # RefSeq NP_060375 NM_017905.4. [Q6UWJ1-1] # RefSeq XP_006720032 XM_006719969.1. [Q6UWJ1-1] # RefSeq XP_011535800 XM_011537498.2. [Q6UWJ1-1] # SEQUENCE CAUTION Sequence=AAM92892.1; Type=Frameshift; Positions=367, 378; Evidence={ECO:0000305}; Sequence=BAB85074.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the monovalent cation:proton antiporter 2 (CPA2) transporter (TC 2.A.37) family. {ECO 0000305}. # SUBCELLULAR LOCATION TMCO3_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # TCDB 2.A.37.1.11:the monovalent cation proton antiporter-2 (cpa2) family # TISSUE SPECIFICITY Expressed in the cornea, lens capsule and choroid-retinal pigment epithelium (at protein level). {ECO:0000269|PubMed 27484837}. # UCSC uc001vtt human. [Q6UWJ1-1] # eggNOG COG0475 LUCA # eggNOG KOG1650 Eukaryota BLAST swissprot:TMCO3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:TMCO3_HUMAN COXPRESdb 55002 http://coxpresdb.jp/data/gene/55002.shtml CleanEx HS_TMCO3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_TMCO3 DOI 10.1038/nature02379 http://dx.doi.org/10.1038/nature02379 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1038/srep31021 http://dx.doi.org/10.1038/srep31021 DOI 10.1101/gr.1293003 http://dx.doi.org/10.1101/gr.1293003 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AF209505 http://www.ebi.ac.uk/ena/data/view/AF209505 EMBL AK000630 http://www.ebi.ac.uk/ena/data/view/AK000630 EMBL AK074415 http://www.ebi.ac.uk/ena/data/view/AK074415 EMBL AL442125 http://www.ebi.ac.uk/ena/data/view/AL442125 EMBL AL442125 http://www.ebi.ac.uk/ena/data/view/AL442125 EMBL AY358768 http://www.ebi.ac.uk/ena/data/view/AY358768 EMBL BC012564 http://www.ebi.ac.uk/ena/data/view/BC012564 EMBL BC068515 http://www.ebi.ac.uk/ena/data/view/BC068515 Ensembl ENST00000375391 http://www.ensembl.org/id/ENST00000375391 Ensembl ENST00000434316 http://www.ensembl.org/id/ENST00000434316 Ensembl ENST00000474393 http://www.ensembl.org/id/ENST00000474393 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0015299 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015299 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GeneCards TMCO3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=TMCO3 GeneID 55002 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=55002 GeneTree ENSGT00390000001394 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000001394 HGNC HGNC:20329 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:20329 HOVERGEN HBG094066 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG094066&db=HOVERGEN HPA HPA039561 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA039561 HPA HPA048126 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA048126 InParanoid Q6UWJ1 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q6UWJ1 IntAct Q6UWJ1 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q6UWJ1* InterPro IPR006153 http://www.ebi.ac.uk/interpro/entry/IPR006153 Jabion 55002 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=55002 KEGG_Gene hsa:55002 http://www.genome.jp/dbget-bin/www_bget?hsa:55002 MIM 617134 http://www.ncbi.nlm.nih.gov/omim/617134 OMA VVMKFLL http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=VVMKFLL OrthoDB EOG091G03W2 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G03W2 PSORT swissprot:TMCO3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:TMCO3_HUMAN PSORT-B swissprot:TMCO3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:TMCO3_HUMAN PSORT2 swissprot:TMCO3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:TMCO3_HUMAN Pfam PF00999 http://pfam.xfam.org/family/PF00999 PharmGKB PA134989495 http://www.pharmgkb.org/do/serve?objId=PA134989495&objCls=Gene Phobius swissprot:TMCO3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:TMCO3_HUMAN PhylomeDB Q6UWJ1 http://phylomedb.org/?seqid=Q6UWJ1 ProteinModelPortal Q6UWJ1 http://www.proteinmodelportal.org/query/uniprot/Q6UWJ1 PubMed 12975309 http://www.ncbi.nlm.nih.gov/pubmed/12975309 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15057823 http://www.ncbi.nlm.nih.gov/pubmed/15057823 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 27484837 http://www.ncbi.nlm.nih.gov/pubmed/27484837 RefSeq NP_060375 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_060375 RefSeq XP_006720032 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006720032 RefSeq XP_011535800 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011535800 SMR Q6UWJ1 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q6UWJ1 STRING 9606.ENSP00000389399 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000389399&targetmode=cogs TCDB 2.A.37.1.11 http://www.tcdb.org/search/result.php?tc=2.A.37.1.11 UCSC uc001vtt http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001vtt&org=rat UniGene Hs.317593 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.317593 UniProtKB TMCO3_HUMAN http://www.uniprot.org/uniprot/TMCO3_HUMAN UniProtKB-AC Q6UWJ1 http://www.uniprot.org/uniprot/Q6UWJ1 charge swissprot:TMCO3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:TMCO3_HUMAN eggNOG COG0475 http://eggnogapi.embl.de/nog_data/html/tree/COG0475 eggNOG KOG1650 http://eggnogapi.embl.de/nog_data/html/tree/KOG1650 epestfind swissprot:TMCO3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:TMCO3_HUMAN garnier swissprot:TMCO3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:TMCO3_HUMAN helixturnhelix swissprot:TMCO3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:TMCO3_HUMAN hmoment swissprot:TMCO3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:TMCO3_HUMAN iep swissprot:TMCO3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:TMCO3_HUMAN inforesidue swissprot:TMCO3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:TMCO3_HUMAN neXtProt NX_Q6UWJ1 http://www.nextprot.org/db/entry/NX_Q6UWJ1 octanol swissprot:TMCO3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:TMCO3_HUMAN pepcoil swissprot:TMCO3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:TMCO3_HUMAN pepdigest swissprot:TMCO3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:TMCO3_HUMAN pepinfo swissprot:TMCO3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:TMCO3_HUMAN pepnet swissprot:TMCO3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:TMCO3_HUMAN pepstats swissprot:TMCO3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:TMCO3_HUMAN pepwheel swissprot:TMCO3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:TMCO3_HUMAN pepwindow swissprot:TMCO3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:TMCO3_HUMAN sigcleave swissprot:TMCO3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:TMCO3_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS CAC1I_HUMAN Event=Alternative splicing; Named isoforms=4; Name=1; Synonyms=Delta36b; IsoId=Q9P0X4-1; Sequence=Displayed; Name=2; IsoId=Q9P0X4-2; Sequence=VSP_000951; Name=3; Synonyms=Alpha1I-a; IsoId=Q9P0X4-3; Sequence=VSP_000950, VSP_000951; Name=4; IsoId=Q9P0X4-4; Sequence=VSP_000950; # AltName CAC1I_HUMAN Voltage-gated calcium channel subunit alpha Cav3.3 # CCDS CCDS46710 -. [Q9P0X4-1] # CCDS CCDS46711 -. [Q9P0X4-4] # ChiTaRS CACNA1I human # DOMAIN CAC1I_HUMAN Each of the four internal repeats contains five hydrophobic transmembrane segments (S1, S2, S3, S5, S6) and one positively charged transmembrane segment (S4). S4 segments probably represent the voltage-sensor and are characterized by a series of positively charged amino acids at every third position. # DrugBank DB00421 Spironolactone # DrugBank DB00568 Cinnarizine # DrugBank DB00617 Paramethadione # DrugBank DB00661 Verapamil # DrugBank DB00909 Zonisamide # DrugBank DB04841 Flunarizine # Ensembl ENST00000401624 ENSP00000383887; ENSG00000100346. [Q9P0X4-2] # Ensembl ENST00000402142 ENSP00000385019; ENSG00000100346. [Q9P0X4-1] # Ensembl ENST00000404898 ENSP00000384093; ENSG00000100346. [Q9P0X4-4] # Ensembl ENST00000407673 ENSP00000385680; ENSG00000100346. [Q9P0X4-3] # FUNCTION CAC1I_HUMAN Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. This channel gives rise to T-type calcium currents. T-type calcium channels belong to the "low-voltage activated (LVA)" group and are strongly blocked by nickel and mibefradil. A particularity of this type of channels is an opening at quite negative potentials, and a voltage- dependent inactivation. T-type channels serve pacemaking functions in both central neurons and cardiac nodal cells and support calcium signaling in secretory cells and vascular smooth muscle. They may also be involved in the modulation of firing patterns of neurons which is important for information processing as well as in cell growth processes. Gates in voltage ranges similar to, but higher than alpha 1G or alpha 1H (By similarity). {ECO 0000250}. # GO_component GO:0005886 plasma membrane; IBA:GO_Central. # GO_component GO:0005891 voltage-gated calcium channel complex; IEA:InterPro. # GO_function GO:0005245 voltage-gated calcium channel activity; TAS:ProtInc. # GO_function GO:0008332 low voltage-gated calcium channel activity; IEA:InterPro. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0007165 signal transduction; TAS:ProtInc. # GO_process GO:0019228 neuronal action potential; IEA:Ensembl. # GO_process GO:0030317 flagellated sperm motility; IEA:InterPro. # GO_process GO:0030431 sleep; IEA:Ensembl. # GO_process GO:0045956 positive regulation of calcium ion-dependent exocytosis; IBA:GO_Central. # GO_process GO:0070509 calcium ion import; IEA:InterPro. # GO_process GO:0086010 membrane depolarization during action potential; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0048870 cell motility # Gene3D 1.20.120.350 -; 4. # Genevisible Q9P0X4 HS # HGNC HGNC:1396 CACNA1I # INTERACTION CAC1I_HUMAN Q8NEC5 CATSPER1; NbExp=5; IntAct=EBI-1220829, EBI-744545; Q96P56 CATSPER2; NbExp=3; IntAct=EBI-1220829, EBI-2215024; # IntAct Q9P0X4 3 # InterPro IPR002077 VDCCAlpha1 # InterPro IPR005445 VDCC_T_a1 # InterPro IPR005821 Ion_trans_dom # InterPro IPR027359 Channel_four-helix_dom # InterPro IPR030162 CACNA1I # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04010 MAPK signaling pathway # KEGG_Pathway ko04020 Calcium signaling pathway # KEGG_Pathway ko04713 Circadian entrainment # MIM 608230 gene # Organism CAC1I_HUMAN Homo sapiens (Human) # PANTHER PTHR10037:SF209 PTHR10037:SF209; 3 # PRINTS PR00167 CACHANNEL # PRINTS PR01629 TVDCCALPHA1 # PTM CAC1I_HUMAN In response to raising of intracellular calcium, the T-type channels are activated by CaM-kinase II. {ECO 0000250}. # Pfam PF00520 Ion_trans; 4 # Proteomes UP000005640 Chromosome 22 # Reactome R-HSA-419037 NCAM1 interactions # RecName CAC1I_HUMAN Voltage-dependent T-type calcium channel subunit alpha-1I # RefSeq NP_001003406 NM_001003406.1. [Q9P0X4-4] # RefSeq NP_066919 NM_021096.3. [Q9P0X4-1] # SIMILARITY Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1I subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION CAC1I_HUMAN Membrane; Multi-pass membrane protein. # SUBUNIT Interacts with CATSPER1 and CATSPER2, leading to suppress T-type calcium channel activity. {ECO:0000269|PubMed 16740636}. # TCDB 1.A.1.11 the voltage-gated ion channel (vic) superfamily # TISSUE SPECIFICITY CAC1I_HUMAN Brain specific. # UCSC uc003ayc human. [Q9P0X4-1] # eggNOG COG1226 LUCA # eggNOG KOG2302 Eukaryota BLAST swissprot:CAC1I_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CAC1I_HUMAN BioCyc ZFISH:ENSG00000100346-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000100346-MONOMER COXPRESdb 8911 http://coxpresdb.jp/data/gene/8911.shtml DOI 10.1016/S0006-3495(02)75164-3 http://dx.doi.org/10.1016/S0006-3495(02)75164-3 DOI 10.1016/S0304-3940(99)00319-5 http://dx.doi.org/10.1016/S0304-3940(99)00319-5 DOI 10.1038/990031 http://dx.doi.org/10.1038/990031 DOI 10.1074/jbc.C000090200 http://dx.doi.org/10.1074/jbc.C000090200 DOI 10.1074/jbc.M511288200 http://dx.doi.org/10.1074/jbc.M511288200 DOI 10.1093/dnares/6.5.329 http://dx.doi.org/10.1093/dnares/6.5.329 DOI 10.1126/scisignal.2000007 http://dx.doi.org/10.1126/scisignal.2000007 DrugBank DB00421 http://www.drugbank.ca/drugs/DB00421 DrugBank DB00568 http://www.drugbank.ca/drugs/DB00568 DrugBank DB00617 http://www.drugbank.ca/drugs/DB00617 DrugBank DB00661 http://www.drugbank.ca/drugs/DB00661 DrugBank DB00909 http://www.drugbank.ca/drugs/DB00909 DrugBank DB04841 http://www.drugbank.ca/drugs/DB04841 EMBL AB032946 http://www.ebi.ac.uk/ena/data/view/AB032946 EMBL AF129133 http://www.ebi.ac.uk/ena/data/view/AF129133 EMBL AF142567 http://www.ebi.ac.uk/ena/data/view/AF142567 EMBL AF211189 http://www.ebi.ac.uk/ena/data/view/AF211189 EMBL AF393329 http://www.ebi.ac.uk/ena/data/view/AF393329 EMBL AL008716 http://www.ebi.ac.uk/ena/data/view/AL008716 EMBL AL008716 http://www.ebi.ac.uk/ena/data/view/AL008716 EMBL AL008716 http://www.ebi.ac.uk/ena/data/view/AL008716 EMBL AL008716 http://www.ebi.ac.uk/ena/data/view/AL008716 EMBL AL008716 http://www.ebi.ac.uk/ena/data/view/AL008716 EMBL AL008716 http://www.ebi.ac.uk/ena/data/view/AL008716 EMBL AL008716 http://www.ebi.ac.uk/ena/data/view/AL008716 EMBL AL008716 http://www.ebi.ac.uk/ena/data/view/AL008716 EMBL AL008716 http://www.ebi.ac.uk/ena/data/view/AL008716 EMBL AL008716 http://www.ebi.ac.uk/ena/data/view/AL008716 EMBL AL008716 http://www.ebi.ac.uk/ena/data/view/AL008716 EMBL AL008716 http://www.ebi.ac.uk/ena/data/view/AL008716 EMBL AL022312 http://www.ebi.ac.uk/ena/data/view/AL022312 EMBL AL022312 http://www.ebi.ac.uk/ena/data/view/AL022312 EMBL AL022312 http://www.ebi.ac.uk/ena/data/view/AL022312 EMBL AL022312 http://www.ebi.ac.uk/ena/data/view/AL022312 EMBL AL022312 http://www.ebi.ac.uk/ena/data/view/AL022312 EMBL AL022312 http://www.ebi.ac.uk/ena/data/view/AL022312 EMBL AL022312 http://www.ebi.ac.uk/ena/data/view/AL022312 EMBL AL022312 http://www.ebi.ac.uk/ena/data/view/AL022312 EMBL AL022312 http://www.ebi.ac.uk/ena/data/view/AL022312 EMBL AL022312 http://www.ebi.ac.uk/ena/data/view/AL022312 EMBL AL022312 http://www.ebi.ac.uk/ena/data/view/AL022312 EMBL AL022312 http://www.ebi.ac.uk/ena/data/view/AL022312 EMBL AL022319 http://www.ebi.ac.uk/ena/data/view/AL022319 EMBL AL022319 http://www.ebi.ac.uk/ena/data/view/AL022319 EMBL AL022319 http://www.ebi.ac.uk/ena/data/view/AL022319 EMBL AL022319 http://www.ebi.ac.uk/ena/data/view/AL022319 EMBL AL022319 http://www.ebi.ac.uk/ena/data/view/AL022319 EMBL AL022319 http://www.ebi.ac.uk/ena/data/view/AL022319 EMBL AL022319 http://www.ebi.ac.uk/ena/data/view/AL022319 EMBL AL022319 http://www.ebi.ac.uk/ena/data/view/AL022319 EMBL AL022319 http://www.ebi.ac.uk/ena/data/view/AL022319 EMBL AL022319 http://www.ebi.ac.uk/ena/data/view/AL022319 EMBL AL022319 http://www.ebi.ac.uk/ena/data/view/AL022319 EMBL AL022319 http://www.ebi.ac.uk/ena/data/view/AL022319 Ensembl ENST00000401624 http://www.ensembl.org/id/ENST00000401624 Ensembl ENST00000402142 http://www.ensembl.org/id/ENST00000402142 Ensembl ENST00000404898 http://www.ensembl.org/id/ENST00000404898 Ensembl ENST00000407673 http://www.ensembl.org/id/ENST00000407673 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005891 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005891 GO_function GO:0005245 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005245 GO_function GO:0008332 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008332 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GO_process GO:0019228 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019228 GO_process GO:0030317 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030317 GO_process GO:0030431 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030431 GO_process GO:0045956 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045956 GO_process GO:0070509 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070509 GO_process GO:0086010 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086010 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0048870 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048870 Gene3D 1.20.120.350 http://www.cathdb.info/version/latest/superfamily/1.20.120.350 GeneCards CACNA1I http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CACNA1I GeneID 8911 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=8911 GeneTree ENSGT00830000128242 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00830000128242 HGNC HGNC:1396 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:1396 HOVERGEN HBG050764 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050764&db=HOVERGEN InParanoid Q9P0X4 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9P0X4 IntAct Q9P0X4 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9P0X4* InterPro IPR002077 http://www.ebi.ac.uk/interpro/entry/IPR002077 InterPro IPR005445 http://www.ebi.ac.uk/interpro/entry/IPR005445 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR027359 http://www.ebi.ac.uk/interpro/entry/IPR027359 InterPro IPR030162 http://www.ebi.ac.uk/interpro/entry/IPR030162 Jabion 8911 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=8911 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:8911 http://www.genome.jp/dbget-bin/www_bget?hsa:8911 KEGG_Orthology KO:K04856 http://www.genome.jp/dbget-bin/www_bget?KO:K04856 KEGG_Pathway ko04010 http://www.genome.jp/kegg-bin/show_pathway?ko04010 KEGG_Pathway ko04020 http://www.genome.jp/kegg-bin/show_pathway?ko04020 KEGG_Pathway ko04713 http://www.genome.jp/kegg-bin/show_pathway?ko04713 MIM 608230 http://www.ncbi.nlm.nih.gov/omim/608230 OMA KMPNIAK http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=KMPNIAK OrthoDB EOG091G02L1 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G02L1 PANTHER PTHR10037:SF209 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10037:SF209 PRINTS PR00167 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00167 PRINTS PR01629 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01629 PSORT swissprot:CAC1I_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CAC1I_HUMAN PSORT-B swissprot:CAC1I_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CAC1I_HUMAN PSORT2 swissprot:CAC1I_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CAC1I_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 PharmGKB PA26011 http://www.pharmgkb.org/do/serve?objId=PA26011&objCls=Gene Phobius swissprot:CAC1I_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CAC1I_HUMAN PhylomeDB Q9P0X4 http://phylomedb.org/?seqid=Q9P0X4 ProteinModelPortal Q9P0X4 http://www.proteinmodelportal.org/query/uniprot/Q9P0X4 PubMed 10454147 http://www.ncbi.nlm.nih.gov/pubmed/10454147 PubMed 10574461 http://www.ncbi.nlm.nih.gov/pubmed/10574461 PubMed 10591208 http://www.ncbi.nlm.nih.gov/pubmed/10591208 PubMed 10749850 http://www.ncbi.nlm.nih.gov/pubmed/10749850 PubMed 12080115 http://www.ncbi.nlm.nih.gov/pubmed/12080115 PubMed 16740636 http://www.ncbi.nlm.nih.gov/pubmed/16740636 PubMed 19690332 http://www.ncbi.nlm.nih.gov/pubmed/19690332 Reactome R-HSA-419037 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-419037 RefSeq NP_001003406 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001003406 RefSeq NP_066919 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_066919 STRING 9606.ENSP00000385019 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000385019&targetmode=cogs TCDB 1.A.1.11 http://www.tcdb.org/search/result.php?tc=1.A.1.11 UCSC uc003ayc http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003ayc&org=rat UniGene Hs.125116 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.125116 UniProtKB CAC1I_HUMAN http://www.uniprot.org/uniprot/CAC1I_HUMAN UniProtKB-AC Q9P0X4 http://www.uniprot.org/uniprot/Q9P0X4 charge swissprot:CAC1I_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CAC1I_HUMAN eggNOG COG1226 http://eggnogapi.embl.de/nog_data/html/tree/COG1226 eggNOG KOG2302 http://eggnogapi.embl.de/nog_data/html/tree/KOG2302 epestfind swissprot:CAC1I_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CAC1I_HUMAN garnier swissprot:CAC1I_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CAC1I_HUMAN helixturnhelix swissprot:CAC1I_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CAC1I_HUMAN hmoment swissprot:CAC1I_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CAC1I_HUMAN iep swissprot:CAC1I_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CAC1I_HUMAN inforesidue swissprot:CAC1I_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CAC1I_HUMAN neXtProt NX_Q9P0X4 http://www.nextprot.org/db/entry/NX_Q9P0X4 octanol swissprot:CAC1I_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CAC1I_HUMAN pepcoil swissprot:CAC1I_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CAC1I_HUMAN pepdigest swissprot:CAC1I_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CAC1I_HUMAN pepinfo swissprot:CAC1I_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CAC1I_HUMAN pepnet swissprot:CAC1I_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CAC1I_HUMAN pepstats swissprot:CAC1I_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CAC1I_HUMAN pepwheel swissprot:CAC1I_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CAC1I_HUMAN pepwindow swissprot:CAC1I_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CAC1I_HUMAN sigcleave swissprot:CAC1I_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CAC1I_HUMAN ## Database ID URL or Descriptions # AltName IPO13_HUMAN Karyopherin-13 # AltName IPO13_HUMAN Ran-binding protein 13 # BioGrid 115025 35 # ChiTaRS IPO13 human # Ensembl ENST00000372343 ENSP00000361418; ENSG00000117408 # ExpressionAtlas O94829 baseline and differential # FUNCTION IPO13_HUMAN Functions in nuclear protein import as nuclear transport receptor. Serves as receptor for nuclear localization signals (NLS) in cargo substrates. Is thought to mediate docking of the importin/substrate complex to the nuclear pore complex (NPC) through binding to nucleoporin and the complex is subsequently translocated through the pore by an energy requiring, Ran- dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to the importin, the importin/substrate complex dissociates and importin is re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus (By similarity). Mediates the nuclear import of UBC9, the RBM8A/MAGOH complex, PAX6 and probably other members of the paired homeobox family. Also mediates nuclear export of eIF-1A, and the cytoplasmic release of eIF-1A is triggered by the loading of import substrates onto IPO13. {ECO 0000250, ECO 0000269|PubMed 11447110, ECO 0000269|PubMed 15143176}. # GO_component GO:0005737 cytoplasm; IBA:GO_Central. # GO_component GO:0031965 nuclear membrane; IBA:GO_Central. # GO_function GO:0008139 nuclear localization sequence binding; IBA:GO_Central. # GO_function GO:0008565 protein transporter activity; IBA:GO_Central. # GO_process GO:0006606 protein import into nucleus; IDA:MGI. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0008565 protein transporter activity # GOslim_process GO:0006913 nucleocytoplasmic transport # Gene3D 1.25.10.10 -; 3. # Genevisible O94829 HS # HGNC HGNC:16853 IPO13 # INTERACTION IPO13_HUMAN Q15699 ALX1; NbExp=2; IntAct=EBI-747310, EBI-750671; Q9UBX2 DUX4; NbExp=2; IntAct=EBI-747310, EBI-11600078; Q6RFH8 DUX4L9; NbExp=2; IntAct=EBI-747310, EBI-11599882; P47813 EIF1AX; NbExp=14; IntAct=EBI-747310, EBI-1045377; P61326 MAGOH; NbExp=4; IntAct=EBI-747310, EBI-299134; Q9BYU1 PBX4; NbExp=5; IntAct=EBI-747310, EBI-10302990; P62826 RAN; NbExp=13; IntAct=EBI-747310, EBI-286642; P63279 UBE2I; NbExp=6; IntAct=EBI-747310, EBI-80168; # IntAct O94829 16 # InterPro IPR001494 Importin-beta_N # InterPro IPR011989 ARM-like # InterPro IPR013598 Exportin-1/Importin-b-like # InterPro IPR016024 ARM-type_fold # MIM 610411 gene # Organism IPO13_HUMAN Homo sapiens (Human) # PDB 2X19 X-ray; 2.80 A; B=1-963 # PDB 2XWU X-ray; 2.80 A; B=1-963 # PDB 3ZJY X-ray; 3.60 A; B/E/G=1-963 # PIR T17276 T17276 # PROSITE PS50166 IMPORTIN_B_NT # Pfam PF03810 IBN_N # Pfam PF08389 Xpo1 # Proteomes UP000005640 Chromosome 1 # RecName IPO13_HUMAN Importin-13 # RefSeq NP_055467 NM_014652.3 # SEQUENCE CAUTION Sequence=BAA34444.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAB14575.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the importin beta family. {ECO 0000305}. # SIMILARITY Contains 1 importin N-terminal domain. {ECO:0000255|PROSITE-ProRule PRU00115}. # SIMILARITY Contains 20 HEAT repeats. {ECO 0000305}. # SMART SM00913 IBN_N # SUBCELLULAR LOCATION IPO13_HUMAN Cytoplasm. Nucleus. # SUBUNIT IPO13_HUMAN Interacts with UBC9, RAN, RBM8A, eIF-1A and PAX6. {ECO 0000269|PubMed 11447110, ECO 0000269|PubMed 15143176, ECO 0000269|PubMed 20122403, ECO 0000269|PubMed 21139563}. # SUPFAM SSF48371 SSF48371; 2 # TCDB 1.I.1.1 the nuclear pore complex (npc) family # TISSUE SPECIFICITY Expressed in fetal brain, heart, intestine and kidney. {ECO:0000269|PubMed 10745026}. # UCSC uc001ckx human # eggNOG ENOG410XT8Y LUCA # eggNOG KOG2022 Eukaryota BLAST swissprot:IPO13_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:IPO13_HUMAN BioCyc ZFISH:ENSG00000117408-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000117408-MONOMER COXPRESdb 9670 http://coxpresdb.jp/data/gene/9670.shtml CleanEx HS_IPO13 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_IPO13 DOI 10.1016/j.molcel.2010.01.007 http://dx.doi.org/10.1016/j.molcel.2010.01.007 DOI 10.1038/emboj.2010.320 http://dx.doi.org/10.1038/emboj.2010.320 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1093/dnares/5.5.277 http://dx.doi.org/10.1093/dnares/5.5.277 DOI 10.1093/emboj/20.14.3685 http://dx.doi.org/10.1093/emboj/20.14.3685 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1128/MCB.24.11.4824-4834.2004 http://dx.doi.org/10.1128/MCB.24.11.4824-4834.2004 DOI 10.1165/ajrcmb.22.4.3929 http://dx.doi.org/10.1165/ajrcmb.22.4.3929 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AB018267 http://www.ebi.ac.uk/ena/data/view/AB018267 EMBL AF267987 http://www.ebi.ac.uk/ena/data/view/AF267987 EMBL AK023441 http://www.ebi.ac.uk/ena/data/view/AK023441 EMBL AL117501 http://www.ebi.ac.uk/ena/data/view/AL117501 EMBL AL357079 http://www.ebi.ac.uk/ena/data/view/AL357079 EMBL BC008194 http://www.ebi.ac.uk/ena/data/view/BC008194 EMBL CH471059 http://www.ebi.ac.uk/ena/data/view/CH471059 EMBL CH471059 http://www.ebi.ac.uk/ena/data/view/CH471059 Ensembl ENST00000372343 http://www.ensembl.org/id/ENST00000372343 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0031965 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031965 GO_function GO:0008139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008139 GO_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GO_process GO:0006606 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006606 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_process GO:0006913 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006913 Gene3D 1.25.10.10 http://www.cathdb.info/version/latest/superfamily/1.25.10.10 GeneCards IPO13 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=IPO13 GeneID 9670 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=9670 GeneTree ENSGT00530000063347 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000063347 HGNC HGNC:16853 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:16853 HOVERGEN HBG052141 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052141&db=HOVERGEN HPA CAB070425 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB070425 InParanoid O94829 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O94829 IntAct O94829 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O94829* InterPro IPR001494 http://www.ebi.ac.uk/interpro/entry/IPR001494 InterPro IPR011989 http://www.ebi.ac.uk/interpro/entry/IPR011989 InterPro IPR013598 http://www.ebi.ac.uk/interpro/entry/IPR013598 InterPro IPR016024 http://www.ebi.ac.uk/interpro/entry/IPR016024 Jabion 9670 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=9670 KEGG_Gene hsa:9670 http://www.genome.jp/dbget-bin/www_bget?hsa:9670 MIM 610411 http://www.ncbi.nlm.nih.gov/omim/610411 MINT MINT-1465082 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1465082 OMA QMYSTIP http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=QMYSTIP OrthoDB EOG091G01CP http://cegg.unige.ch/orthodb/results?searchtext=EOG091G01CP PDB 2X19 http://www.ebi.ac.uk/pdbe-srv/view/entry/2X19 PDB 2XWU http://www.ebi.ac.uk/pdbe-srv/view/entry/2XWU PDB 3ZJY http://www.ebi.ac.uk/pdbe-srv/view/entry/3ZJY PDBsum 2X19 http://www.ebi.ac.uk/pdbsum/2X19 PDBsum 2XWU http://www.ebi.ac.uk/pdbsum/2XWU PDBsum 3ZJY http://www.ebi.ac.uk/pdbsum/3ZJY PROSITE PS50166 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50166 PSORT swissprot:IPO13_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:IPO13_HUMAN PSORT-B swissprot:IPO13_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:IPO13_HUMAN PSORT2 swissprot:IPO13_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:IPO13_HUMAN Pfam PF03810 http://pfam.xfam.org/family/PF03810 Pfam PF08389 http://pfam.xfam.org/family/PF08389 PharmGKB PA134981096 http://www.pharmgkb.org/do/serve?objId=PA134981096&objCls=Gene Phobius swissprot:IPO13_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:IPO13_HUMAN PhylomeDB O94829 http://phylomedb.org/?seqid=O94829 ProteinModelPortal O94829 http://www.proteinmodelportal.org/query/uniprot/O94829 PubMed 10745026 http://www.ncbi.nlm.nih.gov/pubmed/10745026 PubMed 11447110 http://www.ncbi.nlm.nih.gov/pubmed/11447110 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15143176 http://www.ncbi.nlm.nih.gov/pubmed/15143176 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 PubMed 20122403 http://www.ncbi.nlm.nih.gov/pubmed/20122403 PubMed 21139563 http://www.ncbi.nlm.nih.gov/pubmed/21139563 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 9872452 http://www.ncbi.nlm.nih.gov/pubmed/9872452 RefSeq NP_055467 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_055467 SMART SM00913 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00913 SMR O94829 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=O94829 STRING 9606.ENSP00000361418 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000361418&targetmode=cogs SUPFAM SSF48371 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48371 TCDB 1.I.1.1 http://www.tcdb.org/search/result.php?tc=1.I.1.1 UCSC uc001ckx http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001ckx&org=rat UniGene Hs.158497 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.158497 UniProtKB IPO13_HUMAN http://www.uniprot.org/uniprot/IPO13_HUMAN UniProtKB-AC O94829 http://www.uniprot.org/uniprot/O94829 charge swissprot:IPO13_HUMAN http://rest.g-language.org/emboss/charge/swissprot:IPO13_HUMAN eggNOG ENOG410XT8Y http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XT8Y eggNOG KOG2022 http://eggnogapi.embl.de/nog_data/html/tree/KOG2022 epestfind swissprot:IPO13_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:IPO13_HUMAN garnier swissprot:IPO13_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:IPO13_HUMAN helixturnhelix swissprot:IPO13_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:IPO13_HUMAN hmoment swissprot:IPO13_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:IPO13_HUMAN iep swissprot:IPO13_HUMAN http://rest.g-language.org/emboss/iep/swissprot:IPO13_HUMAN inforesidue swissprot:IPO13_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:IPO13_HUMAN neXtProt NX_O94829 http://www.nextprot.org/db/entry/NX_O94829 octanol swissprot:IPO13_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:IPO13_HUMAN pepcoil swissprot:IPO13_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:IPO13_HUMAN pepdigest swissprot:IPO13_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:IPO13_HUMAN pepinfo swissprot:IPO13_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:IPO13_HUMAN pepnet swissprot:IPO13_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:IPO13_HUMAN pepstats swissprot:IPO13_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:IPO13_HUMAN pepwheel swissprot:IPO13_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:IPO13_HUMAN pepwindow swissprot:IPO13_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:IPO13_HUMAN sigcleave swissprot:IPO13_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:IPO13_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS Event=Alternative splicing; Named isoforms=3; Name=1; Synonyms=CAT-2B; IsoId=P52569-1; Sequence=Displayed; Name=2; Synonyms=CAT-2A; IsoId=P52569-2; Sequence=VSP_037354, VSP_023354; Note=Ref.2 (AAB62810) sequence differs from that shown due to a frameshift in position 29. {ECO 0000305}; Name=3; IsoId=P52569-3; Sequence=VSP_037354; Note=No experimental confirmation available.; # AltName CTR2_HUMAN Low affinity cationic amino acid transporter 2 # AltName CTR2_HUMAN Solute carrier family 7 member 2 # BioGrid 112433 23 # CCDS CCDS34852 -. [P52569-1] # CCDS CCDS55203 -. [P52569-3] # CCDS CCDS6002 -. [P52569-2] # ChiTaRS SLC7A2 human # DrugBank DB00123 L-Lysine # DrugBank DB00129 L-Ornithine # Ensembl ENST00000004531 ENSP00000004531; ENSG00000003989. [P52569-3] # Ensembl ENST00000398090 ENSP00000381164; ENSG00000003989. [P52569-2] # Ensembl ENST00000470360 ENSP00000419873; ENSG00000003989. [P52569-2] # Ensembl ENST00000494857 ENSP00000419140; ENSG00000003989. [P52569-1] # Ensembl ENST00000522656 ENSP00000430464; ENSG00000003989. [P52569-1] # FUNCTION CTR2_HUMAN Functions as permease involved in the transport of the cationic amino acids (arginine, lysine and ornithine); the affinity for its substrates differs between isoforms created by alternative splicing. Isoform 1 functions as permease that mediates the transport of the cationic amino acids (arginine, lysine and ornithine), and it has much higher affinity for arginine than isoform 2. Isoform 2 functions as low-affinity, high capacity permease involved in the transport of the cationic amino acids (arginine, lysine and ornithine) (PubMed 9174363). May play a role in classical or alternative activation of macrophages via its role in arginine transport. {ECO 0000250|UniProtKB P18581, ECO 0000269|PubMed 9174363}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0016020 membrane; TAS:ProtInc. # GO_function GO:0005289 high-affinity arginine transmembrane transporter activity; IEA:Ensembl. # GO_function GO:0005292 high-affinity lysine transmembrane transporter activity; IEA:Ensembl. # GO_function GO:0015171 amino acid transmembrane transporter activity; TAS:Reactome. # GO_function GO:0015174 basic amino acid transmembrane transporter activity; TAS:ProtInc. # GO_function GO:0015179 L-amino acid transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015297 antiporter activity; IBA:GO_Central. # GO_function GO:0097626 low-affinity L-arginine transmembrane transporter activity; IEA:Ensembl. # GO_function GO:0097627 high-affinity L-ornithine transmembrane transporter activity; IEA:Ensembl. # GO_process GO:0002537 nitric oxide production involved in inflammatory response; IEA:Ensembl. # GO_process GO:0006520 cellular amino acid metabolic process; TAS:ProtInc. # GO_process GO:0006809 nitric oxide biosynthetic process; IEA:Ensembl. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0006865 amino acid transport; TAS:Reactome. # GO_process GO:0015809 arginine transport; IEA:Ensembl. # GO_process GO:0042116 macrophage activation; IEA:Ensembl. # GO_process GO:0043030 regulation of macrophage activation; IEA:Ensembl. # GO_process GO:0050727 regulation of inflammatory response; IEA:Ensembl. # GO_process GO:0097638 L-arginine import across plasma membrane; IEA:Ensembl. # GO_process GO:0097639 L-lysine import across plasma membrane; IEA:Ensembl. # GO_process GO:0097640 L-ornithine import across plasma membrane; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0002376 immune system process # GOslim_process GO:0006520 cellular amino acid metabolic process # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0055085 transmembrane transport # Genevisible P52569 HS # HGNC HGNC:11060 SLC7A2 # IntAct P52569 2 # InterPro IPR002293 AA/rel_permease1 # InterPro IPR004755 Cat_AA_permease # InterPro IPR029485 CAT_C # KEGG_Brite ko02001 Solute carrier family # MIM 601872 gene # Organism CTR2_HUMAN Homo sapiens (Human) # PANTHER PTHR11785 PTHR11785; 3 # Pfam PF13520 AA_permease_2 # Pfam PF13906 AA_permease_C # Proteomes UP000005640 Chromosome 8 # Reactome R-HSA-352230 Amino acid transport across the plasma membrane # RecName CTR2_HUMAN Cationic amino acid transporter 2 # RefSeq NP_001008539 NM_001008539.3. [P52569-1] # RefSeq NP_001158243 NM_001164771.1. [P52569-3] # RefSeq NP_003037 NM_003046.5. [P52569-2] # RefSeq XP_005273667 XM_005273610.4. [P52569-1] # RefSeq XP_005273668 XM_005273611.4. [P52569-1] # RefSeq XP_005273669 XM_005273612.4. [P52569-1] # RefSeq XP_016869235 XM_017013746.1. [P52569-1] # RefSeq XP_016869236 XM_017013747.1 # SEQUENCE CAUTION CTR2_HUMAN Sequence=AAH69648.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; Sequence=AAI04906.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; Sequence=AAI13662.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; Sequence=AAI43584.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the amino acid-polyamine-organocation (APC) superfamily. Cationic amino acid transporter (CAT) (TC 2.A.3.3) family. {ECO 0000305}. # SUBCELLULAR LOCATION CTR2_HUMAN Cell membrane {ECO 0000269|PubMed 9174363}; Multi-pass membrane protein {ECO 0000269|PubMed 9174363}. # TCDB 2.A.3.3 the amino acid-polyamine-organocation (apc) family # TIGRFAMs TIGR00906 2A0303 # TISSUE SPECIFICITY Expressed at high levels in the skeletal muscle, placenta and ovary. Expressed at intermediate levels in the liver and pancreas and at low levels in the kidney and heart. {ECO:0000269|PubMed 8954799}. # UCSC uc011kyc human. [P52569-1] # eggNOG COG0531 LUCA # eggNOG KOG1286 Eukaryota BLAST swissprot:CTR2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CTR2_HUMAN BioCyc ZFISH:ENSG00000003989-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000003989-MONOMER COXPRESdb 6542 http://coxpresdb.jp/data/gene/6542.shtml CleanEx HS_SLC7A2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC7A2 DOI 10.1006/geno.1996.0613 http://dx.doi.org/10.1006/geno.1996.0613 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/bi962829p http://dx.doi.org/10.1021/bi962829p DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature04406 http://dx.doi.org/10.1038/nature04406 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 DrugBank DB00123 http://www.drugbank.ca/drugs/DB00123 DrugBank DB00129 http://www.drugbank.ca/drugs/DB00129 EMBL AB020863 http://www.ebi.ac.uk/ena/data/view/AB020863 EMBL AL832016 http://www.ebi.ac.uk/ena/data/view/AL832016 EMBL BC069648 http://www.ebi.ac.uk/ena/data/view/BC069648 EMBL BC104905 http://www.ebi.ac.uk/ena/data/view/BC104905 EMBL BC113661 http://www.ebi.ac.uk/ena/data/view/BC113661 EMBL BC143583 http://www.ebi.ac.uk/ena/data/view/BC143583 EMBL CH471080 http://www.ebi.ac.uk/ena/data/view/CH471080 EMBL D29990 http://www.ebi.ac.uk/ena/data/view/D29990 EMBL U76368 http://www.ebi.ac.uk/ena/data/view/U76368 EMBL U76369 http://www.ebi.ac.uk/ena/data/view/U76369 Ensembl ENST00000004531 http://www.ensembl.org/id/ENST00000004531 Ensembl ENST00000398090 http://www.ensembl.org/id/ENST00000398090 Ensembl ENST00000470360 http://www.ensembl.org/id/ENST00000470360 Ensembl ENST00000494857 http://www.ensembl.org/id/ENST00000494857 Ensembl ENST00000522656 http://www.ensembl.org/id/ENST00000522656 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_function GO:0005289 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005289 GO_function GO:0005292 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005292 GO_function GO:0015171 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015171 GO_function GO:0015174 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015174 GO_function GO:0015179 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015179 GO_function GO:0015297 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015297 GO_function GO:0097626 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097626 GO_function GO:0097627 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097627 GO_process GO:0002537 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002537 GO_process GO:0006520 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006520 GO_process GO:0006809 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006809 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0006865 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006865 GO_process GO:0015809 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015809 GO_process GO:0042116 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042116 GO_process GO:0043030 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043030 GO_process GO:0050727 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050727 GO_process GO:0097638 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097638 GO_process GO:0097639 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097639 GO_process GO:0097640 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097640 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0002376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002376 GOslim_process GO:0006520 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006520 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC7A2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC7A2 GeneID 6542 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6542 GeneTree ENSGT00760000119151 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119151 HGNC HGNC:11060 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11060 HOGENOM HOG000250623 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000250623&db=HOGENOM6 HOVERGEN HBG000280 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG000280&db=HOVERGEN HPA CAB020842 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB020842 InParanoid P52569 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P52569 IntAct P52569 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P52569* InterPro IPR002293 http://www.ebi.ac.uk/interpro/entry/IPR002293 InterPro IPR004755 http://www.ebi.ac.uk/interpro/entry/IPR004755 InterPro IPR029485 http://www.ebi.ac.uk/interpro/entry/IPR029485 Jabion 6542 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6542 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:6542 http://www.genome.jp/dbget-bin/www_bget?hsa:6542 KEGG_Orthology KO:K13864 http://www.genome.jp/dbget-bin/www_bget?KO:K13864 MIM 601872 http://www.ncbi.nlm.nih.gov/omim/601872 OMA AVIAKYW http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=AVIAKYW OrthoDB EOG091G05NM http://cegg.unige.ch/orthodb/results?searchtext=EOG091G05NM PANTHER PTHR11785 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11785 PSORT swissprot:CTR2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CTR2_HUMAN PSORT-B swissprot:CTR2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CTR2_HUMAN PSORT2 swissprot:CTR2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CTR2_HUMAN Pfam PF13520 http://pfam.xfam.org/family/PF13520 Pfam PF13906 http://pfam.xfam.org/family/PF13906 PharmGKB PA35920 http://www.pharmgkb.org/do/serve?objId=PA35920&objCls=Gene Phobius swissprot:CTR2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CTR2_HUMAN PhylomeDB P52569 http://phylomedb.org/?seqid=P52569 ProteinModelPortal P52569 http://www.proteinmodelportal.org/query/uniprot/P52569 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16421571 http://www.ncbi.nlm.nih.gov/pubmed/16421571 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 8954799 http://www.ncbi.nlm.nih.gov/pubmed/8954799 PubMed 9174363 http://www.ncbi.nlm.nih.gov/pubmed/9174363 Reactome R-HSA-352230 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-352230 RefSeq NP_001008539 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001008539 RefSeq NP_001158243 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001158243 RefSeq NP_003037 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_003037 RefSeq XP_005273667 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005273667 RefSeq XP_005273668 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005273668 RefSeq XP_005273669 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005273669 RefSeq XP_016869235 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016869235 RefSeq XP_016869236 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016869236 STRING 9606.ENSP00000004531 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000004531&targetmode=cogs TCDB 2.A.3.3 http://www.tcdb.org/search/result.php?tc=2.A.3.3 TIGRFAMs TIGR00906 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00906 UCSC uc011kyc http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc011kyc&org=rat UniGene Hs.448520 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.448520 UniProtKB CTR2_HUMAN http://www.uniprot.org/uniprot/CTR2_HUMAN UniProtKB-AC P52569 http://www.uniprot.org/uniprot/P52569 charge swissprot:CTR2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CTR2_HUMAN eggNOG COG0531 http://eggnogapi.embl.de/nog_data/html/tree/COG0531 eggNOG KOG1286 http://eggnogapi.embl.de/nog_data/html/tree/KOG1286 epestfind swissprot:CTR2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CTR2_HUMAN garnier swissprot:CTR2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CTR2_HUMAN helixturnhelix swissprot:CTR2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CTR2_HUMAN hmoment swissprot:CTR2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CTR2_HUMAN iep swissprot:CTR2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CTR2_HUMAN inforesidue swissprot:CTR2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CTR2_HUMAN neXtProt NX_P52569 http://www.nextprot.org/db/entry/NX_P52569 octanol swissprot:CTR2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CTR2_HUMAN pepcoil swissprot:CTR2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CTR2_HUMAN pepdigest swissprot:CTR2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CTR2_HUMAN pepinfo swissprot:CTR2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CTR2_HUMAN pepnet swissprot:CTR2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CTR2_HUMAN pepstats swissprot:CTR2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CTR2_HUMAN pepwheel swissprot:CTR2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CTR2_HUMAN pepwindow swissprot:CTR2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CTR2_HUMAN sigcleave swissprot:CTR2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CTR2_HUMAN ## Database ID URL or Descriptions # AltName CCG2_HUMAN Neuronal voltage-gated calcium channel gamma-2 subunit # AltName CCG2_HUMAN Transmembrane AMPAR regulatory protein gamma-2 # BioGrid 115648 20 # DISEASE CCG2_HUMAN Mental retardation, autosomal dominant 10 (MRD10) [MIM 614256] A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO 0000269|PubMed 21376300}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DrugBank DB00898 Ethanol # Ensembl ENST00000300105 ENSP00000300105; ENSG00000166862 # FUNCTION CCG2_HUMAN Regulates the trafficking and gating properties of AMPA- selective glutamate receptors (AMPARs). Promotes their targeting to the cell membrane and synapses and modulates their gating properties by slowing their rates of activation, deactivation and desensitization. Does not show subunit-specific AMPA receptor regulation and regulates all AMPAR subunits. Thought to stabilize the calcium channel in an inactivated (closed) state. {ECO 0000269|PubMed 20805473}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005891 voltage-gated calcium channel complex; TAS:ProtInc. # GO_component GO:0030666 endocytic vesicle membrane; TAS:Reactome. # GO_component GO:0032281 AMPA glutamate receptor complex; ISS:UniProtKB. # GO_function GO:0005245 voltage-gated calcium channel activity; TAS:ProtInc. # GO_function GO:0005262 calcium channel activity; TAS:Reactome. # GO_function GO:0016247 channel regulator activity; IBA:GO_Central. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0007528 neuromuscular junction development; IEA:Ensembl. # GO_process GO:0019226 transmission of nerve impulse; IBA:GO_Central. # GO_process GO:0051899 membrane depolarization; TAS:Reactome. # GO_process GO:0060081 membrane hyperpolarization; IEA:Ensembl. # GO_process GO:0061337 cardiac conduction; TAS:Reactome. # GO_process GO:2000311 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity; ISS:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0050877 neurological system process # Genevisible Q9Y698 HS # HGNC HGNC:1406 CACNG2 # InterPro IPR004031 PMP22/EMP/MP20/Claudin # InterPro IPR005422 VDCC_g2su # InterPro IPR008368 VDCC_gsu # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00773 [Congenital disorder; Mental retardation] Autosomal dominant mental retardation # KEGG_Pathway ko04010 MAPK signaling pathway # KEGG_Pathway ko04260 Cardiac muscle contraction # KEGG_Pathway ko05410 Hypertrophic cardiomyopathy (HCM) # KEGG_Pathway ko05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC) # KEGG_Pathway ko05414 Dilated cardiomyopathy # MIM 602911 gene # MIM 614256 phenotype # Organism CCG2_HUMAN Homo sapiens (Human) # Orphanet 178469 Autosomal dominant non-syndromic intellectual disability # PRINTS PR01602 VDCCGAMMA2 # PRINTS PR01792 VDCCGAMMA # PTM CCG2_HUMAN Phosphorylation of Thr-321 impairs interaction with DLG1 and DLG4. # Pfam PF00822 PMP22_Claudin # Proteomes UP000005640 Chromosome 22 # Reactome R-HSA-112308 Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels # Reactome R-HSA-399719 Trafficking of AMPA receptors # Reactome R-HSA-5576892 Phase 0 - rapid depolarisation # Reactome R-HSA-5576893 Phase 2 - plateau phase # Reactome R-HSA-5576894 Phase 1 - inactivation of fast Na+ channels # Reactome R-HSA-5682910 LGI-ADAM interactions # RecName CCG2_HUMAN Voltage-dependent calcium channel gamma-2 subunit # RefSeq NP_006069 NM_006078.3 # SIMILARITY Belongs to the PMP-22/EMP/MP20 family. CACNG subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION CCG2_HUMAN Membrane; Multi-pass membrane protein. # SUBUNIT CCG2_HUMAN The L-type calcium channel is composed of five subunits alpha-1, alpha-2/delta, beta and gamma. Interacts with the PDZ domains of DLG4/PSD-95 and DLG1/SAP97. May interact with GOPC (By similarity). Acts as an auxiliary subunit for AMPA-selective glutamate receptors (AMPARs). Found in a complex with GRIA1, GRIA2, GRIA3, GRIA4, CNIH2, CNIH3, CACNG3, CACNG4, CACNG5, CACNG7 and CACNG8 (By similarity). Interacts with GRIA1. {ECO 0000250, ECO 0000269|PubMed 20805473}. # TCDB 8.A.16.2 the ca(+) channel auxiliary subunit Gama1-Gama8 (ccaGama) family # TISSUE SPECIFICITY CCG2_HUMAN Brain. # UCSC uc003aps human # eggNOG ENOG410IFNQ Eukaryota # eggNOG ENOG4110ISU LUCA BLAST swissprot:CCG2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CCG2_HUMAN BioCyc ZFISH:ENSG00000166862-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000166862-MONOMER COXPRESdb 10369 http://coxpresdb.jp/data/gene/10369.shtml CleanEx HS_CACNG2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CACNG2 DIP DIP-48977N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-48977N DOI 10.1016/j.ajhg.2011.02.001 http://dx.doi.org/10.1016/j.ajhg.2011.02.001 DOI 10.1038/990031 http://dx.doi.org/10.1038/990031 DOI 10.1073/pnas.1011706107 http://dx.doi.org/10.1073/pnas.1011706107 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/gb-2004-5-10-r84 http://dx.doi.org/10.1186/gb-2004-5-10-r84 DOI 10.4065/74.4.357 http://dx.doi.org/10.4065/74.4.357 DrugBank DB00898 http://www.drugbank.ca/drugs/DB00898 EMBL AF096322 http://www.ebi.ac.uk/ena/data/view/AF096322 EMBL AL022313 http://www.ebi.ac.uk/ena/data/view/AL022313 EMBL AL022313 http://www.ebi.ac.uk/ena/data/view/AL022313 EMBL AL031845 http://www.ebi.ac.uk/ena/data/view/AL031845 EMBL AL031845 http://www.ebi.ac.uk/ena/data/view/AL031845 EMBL AL049749 http://www.ebi.ac.uk/ena/data/view/AL049749 EMBL AL049749 http://www.ebi.ac.uk/ena/data/view/AL049749 EMBL BC069612 http://www.ebi.ac.uk/ena/data/view/BC069612 EMBL BC112297 http://www.ebi.ac.uk/ena/data/view/BC112297 EMBL BC112299 http://www.ebi.ac.uk/ena/data/view/BC112299 EMBL CR456414 http://www.ebi.ac.uk/ena/data/view/CR456414 Ensembl ENST00000300105 http://www.ensembl.org/id/ENST00000300105 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005891 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005891 GO_component GO:0030666 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030666 GO_component GO:0032281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032281 GO_function GO:0005245 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005245 GO_function GO:0005262 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005262 GO_function GO:0016247 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016247 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0007528 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007528 GO_process GO:0019226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019226 GO_process GO:0051899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051899 GO_process GO:0060081 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060081 GO_process GO:0061337 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061337 GO_process GO:2000311 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000311 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GeneCards CACNG2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CACNG2 GeneID 10369 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=10369 GeneTree ENSGT00550000074547 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074547 HGNC HGNC:1406 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:1406 HOGENOM HOG000233440 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000233440&db=HOGENOM6 HOVERGEN HBG003682 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG003682&db=HOVERGEN InParanoid Q9Y698 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9Y698 IntAct Q9Y698 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9Y698* InterPro IPR004031 http://www.ebi.ac.uk/interpro/entry/IPR004031 InterPro IPR005422 http://www.ebi.ac.uk/interpro/entry/IPR005422 InterPro IPR008368 http://www.ebi.ac.uk/interpro/entry/IPR008368 Jabion 10369 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=10369 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00773 http://www.genome.jp/dbget-bin/www_bget?H00773 KEGG_Gene hsa:10369 http://www.genome.jp/dbget-bin/www_bget?hsa:10369 KEGG_Orthology KO:K04867 http://www.genome.jp/dbget-bin/www_bget?KO:K04867 KEGG_Pathway ko04010 http://www.genome.jp/kegg-bin/show_pathway?ko04010 KEGG_Pathway ko04260 http://www.genome.jp/kegg-bin/show_pathway?ko04260 KEGG_Pathway ko05410 http://www.genome.jp/kegg-bin/show_pathway?ko05410 KEGG_Pathway ko05412 http://www.genome.jp/kegg-bin/show_pathway?ko05412 KEGG_Pathway ko05414 http://www.genome.jp/kegg-bin/show_pathway?ko05414 MIM 602911 http://www.ncbi.nlm.nih.gov/omim/602911 MIM 614256 http://www.ncbi.nlm.nih.gov/omim/614256 OMA NARATDY http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=NARATDY Orphanet 178469 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=178469 OrthoDB EOG091G0D2Z http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0D2Z PRINTS PR01602 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01602 PRINTS PR01792 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01792 PSORT swissprot:CCG2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CCG2_HUMAN PSORT-B swissprot:CCG2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CCG2_HUMAN PSORT2 swissprot:CCG2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CCG2_HUMAN Pfam PF00822 http://pfam.xfam.org/family/PF00822 PharmGKB PA26016 http://www.pharmgkb.org/do/serve?objId=PA26016&objCls=Gene Phobius swissprot:CCG2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CCG2_HUMAN PhylomeDB Q9Y698 http://phylomedb.org/?seqid=Q9Y698 ProteinModelPortal Q9Y698 http://www.proteinmodelportal.org/query/uniprot/Q9Y698 PubMed 10221464 http://www.ncbi.nlm.nih.gov/pubmed/10221464 PubMed 10591208 http://www.ncbi.nlm.nih.gov/pubmed/10591208 PubMed 15461802 http://www.ncbi.nlm.nih.gov/pubmed/15461802 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 20805473 http://www.ncbi.nlm.nih.gov/pubmed/20805473 PubMed 21376300 http://www.ncbi.nlm.nih.gov/pubmed/21376300 Reactome R-HSA-112308 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-112308 Reactome R-HSA-399719 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-399719 Reactome R-HSA-5576892 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576892 Reactome R-HSA-5576893 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576893 Reactome R-HSA-5576894 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576894 Reactome R-HSA-5682910 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5682910 RefSeq NP_006069 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_006069 STRING 9606.ENSP00000300105 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000300105&targetmode=cogs TCDB 8.A.16.2 http://www.tcdb.org/search/result.php?tc=8.A.16.2 UCSC uc003aps http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003aps&org=rat UniGene Hs.146766 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.146766 UniProtKB CCG2_HUMAN http://www.uniprot.org/uniprot/CCG2_HUMAN UniProtKB-AC Q9Y698 http://www.uniprot.org/uniprot/Q9Y698 charge swissprot:CCG2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CCG2_HUMAN eggNOG ENOG410IFNQ http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IFNQ eggNOG ENOG4110ISU http://eggnogapi.embl.de/nog_data/html/tree/ENOG4110ISU epestfind swissprot:CCG2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CCG2_HUMAN garnier swissprot:CCG2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CCG2_HUMAN helixturnhelix swissprot:CCG2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CCG2_HUMAN hmoment swissprot:CCG2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CCG2_HUMAN iep swissprot:CCG2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CCG2_HUMAN inforesidue swissprot:CCG2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CCG2_HUMAN neXtProt NX_Q9Y698 http://www.nextprot.org/db/entry/NX_Q9Y698 octanol swissprot:CCG2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CCG2_HUMAN pepcoil swissprot:CCG2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CCG2_HUMAN pepdigest swissprot:CCG2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CCG2_HUMAN pepinfo swissprot:CCG2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CCG2_HUMAN pepnet swissprot:CCG2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CCG2_HUMAN pepstats swissprot:CCG2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CCG2_HUMAN pepwheel swissprot:CCG2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CCG2_HUMAN pepwindow swissprot:CCG2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CCG2_HUMAN sigcleave swissprot:CCG2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CCG2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS BEST3_HUMAN Event=Alternative splicing; Named isoforms=5; Name=2; IsoId=Q8N1M1-2; Sequence=Displayed; Name=1; IsoId=Q8N1M1-1; Sequence=VSP_008977, VSP_008978; Name=4; IsoId=Q8N1M1-4; Sequence=VSP_008981, VSP_008982, VSP_008983; Name=5; IsoId=Q8N1M1-5; Sequence=VSP_046979, VSP_046980; Note=Gene prediction based on EST data.; Name=6; IsoId=Q8N1M1-6; Sequence=VSP_008981; # AltName BEST3_HUMAN Vitelliform macular dystrophy 2-like protein 3 # CCDS CCDS41810 -. [Q8N1M1-5] # CCDS CCDS61192 -. [Q8N1M1-6] # CCDS CCDS61193 -. [Q8N1M1-1] # CCDS CCDS73496 -. [Q8N1M1-4] # CCDS CCDS8992 -. [Q8N1M1-2] # ChiTaRS BEST3 human # Ensembl ENST00000266661 ENSP00000266661; ENSG00000127325. [Q8N1M1-4] # Ensembl ENST00000330891 ENSP00000332413; ENSG00000127325. [Q8N1M1-2] # Ensembl ENST00000331471 ENSP00000329064; ENSG00000127325. [Q8N1M1-1] # Ensembl ENST00000488961 ENSP00000433213; ENSG00000127325. [Q8N1M1-5] # Ensembl ENST00000551160 ENSP00000449377; ENSG00000127325. [Q8N1M1-4] # Ensembl ENST00000553096 ENSP00000449548; ENSG00000127325. [Q8N1M1-6] # ExpressionAtlas Q8N1M1 baseline and differential # FUNCTION BEST3_HUMAN Forms calcium-sensitive chloride channels. Permeable to bicarbonate. {ECO 0000269|PubMed 12907679}. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0034707 chloride channel complex; IBA:GO_Central. # GO_function GO:0005254 chloride channel activity; IEA:UniProtKB-KW. # GO_process GO:0043271 negative regulation of ion transport; IEA:Ensembl. # GO_process GO:1902476 chloride transmembrane transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0008150 biological_process # GOslim_process GO:0055085 transmembrane transport # Genevisible Q8N1M1 HS # HGNC HGNC:17105 BEST3 # InterPro IPR000615 Bestrophin # InterPro IPR021134 Bestrophin/UPF0187 # KEGG_Brite ko02000 Transporters # MIM 607337 gene # Organism BEST3_HUMAN Homo sapiens (Human) # PANTHER PTHR10736 PTHR10736 # Pfam PF01062 Bestrophin # Proteomes UP000005640 Chromosome 12 # Reactome R-HSA-2672351 Stimuli-sensing channels # RecName BEST3_HUMAN Bestrophin-3 # RefSeq NP_001269542 NM_001282613.1. [Q8N1M1-6] # RefSeq NP_001269543 NM_001282614.1. [Q8N1M1-1] # RefSeq NP_001269544 NM_001282615.1. [Q8N1M1-4] # RefSeq NP_001269545 NM_001282616.1. [Q8N1M1-4] # RefSeq NP_116124 NM_032735.2. [Q8N1M1-2] # RefSeq NP_689652 NM_152439.3. [Q8N1M1-5] # RefSeq XP_011536263 XM_011537961.1. [Q8N1M1-6] # SIMILARITY Belongs to the bestrophin family. {ECO 0000305}. # SUBCELLULAR LOCATION BEST3_HUMAN Cell membrane; Multi-pass membrane protein. # TISSUE SPECIFICITY Present in skeletal muscle and weakly in brain, spinal cord, bone marrow and retina. {ECO:0000269|PubMed 12032738}. # UCSC uc001svd human. [Q8N1M1-2] # eggNOG ENOG410XS3J LUCA # eggNOG KOG3547 Eukaryota BLAST swissprot:BEST3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:BEST3_HUMAN COXPRESdb 144453 http://coxpresdb.jp/data/gene/144453.shtml CleanEx HS_BEST3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_BEST3 DOI 10.1038/nature04569 http://dx.doi.org/10.1038/nature04569 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1038/sj.ejhg.5200796 http://dx.doi.org/10.1038/sj.ejhg.5200796 DOI 10.1074/jbc.M306150200 http://dx.doi.org/10.1074/jbc.M306150200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AC016153 http://www.ebi.ac.uk/ena/data/view/AC016153 EMBL AC018921 http://www.ebi.ac.uk/ena/data/view/AC018921 EMBL AC025263 http://www.ebi.ac.uk/ena/data/view/AC025263 EMBL AF440758 http://www.ebi.ac.uk/ena/data/view/AF440758 EMBL AK096459 http://www.ebi.ac.uk/ena/data/view/AK096459 EMBL AY515706 http://www.ebi.ac.uk/ena/data/view/AY515706 EMBL BC006440 http://www.ebi.ac.uk/ena/data/view/BC006440 EMBL BC151138 http://www.ebi.ac.uk/ena/data/view/BC151138 Ensembl ENST00000266661 http://www.ensembl.org/id/ENST00000266661 Ensembl ENST00000330891 http://www.ensembl.org/id/ENST00000330891 Ensembl ENST00000331471 http://www.ensembl.org/id/ENST00000331471 Ensembl ENST00000488961 http://www.ensembl.org/id/ENST00000488961 Ensembl ENST00000551160 http://www.ensembl.org/id/ENST00000551160 Ensembl ENST00000553096 http://www.ensembl.org/id/ENST00000553096 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0034707 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034707 GO_function GO:0005254 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005254 GO_process GO:0043271 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043271 GO_process GO:1902476 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902476 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards BEST3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=BEST3 GeneID 144453 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=144453 GeneTree ENSGT00390000002997 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000002997 H-InvDB HIX0010809 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0010809 HGNC HGNC:17105 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:17105 HOGENOM HOG000115678 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000115678&db=HOGENOM6 HOVERGEN HBG080894 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG080894&db=HOVERGEN HPA HPA054582 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA054582 InParanoid Q8N1M1 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8N1M1 InterPro IPR000615 http://www.ebi.ac.uk/interpro/entry/IPR000615 InterPro IPR021134 http://www.ebi.ac.uk/interpro/entry/IPR021134 Jabion 144453 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=144453 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Gene hsa:144453 http://www.genome.jp/dbget-bin/www_bget?hsa:144453 KEGG_Orthology KO:K13880 http://www.genome.jp/dbget-bin/www_bget?KO:K13880 MIM 607337 http://www.ncbi.nlm.nih.gov/omim/607337 OMA KRFLSAH http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=KRFLSAH OrthoDB EOG091G06XO http://cegg.unige.ch/orthodb/results?searchtext=EOG091G06XO PANTHER PTHR10736 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10736 PSORT swissprot:BEST3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:BEST3_HUMAN PSORT-B swissprot:BEST3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:BEST3_HUMAN PSORT2 swissprot:BEST3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:BEST3_HUMAN Pfam PF01062 http://pfam.xfam.org/family/PF01062 PharmGKB PA162377503 http://www.pharmgkb.org/do/serve?objId=PA162377503&objCls=Gene Phobius swissprot:BEST3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:BEST3_HUMAN PhylomeDB Q8N1M1 http://phylomedb.org/?seqid=Q8N1M1 ProteinModelPortal Q8N1M1 http://www.proteinmodelportal.org/query/uniprot/Q8N1M1 PubMed 12032738 http://www.ncbi.nlm.nih.gov/pubmed/12032738 PubMed 12907679 http://www.ncbi.nlm.nih.gov/pubmed/12907679 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16541075 http://www.ncbi.nlm.nih.gov/pubmed/16541075 Reactome R-HSA-2672351 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2672351 RefSeq NP_001269542 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001269542 RefSeq NP_001269543 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001269543 RefSeq NP_001269544 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001269544 RefSeq NP_001269545 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001269545 RefSeq NP_116124 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_116124 RefSeq NP_689652 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_689652 RefSeq XP_011536263 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011536263 SMR Q8N1M1 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q8N1M1 STRING 9606.ENSP00000332413 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000332413&targetmode=cogs UCSC uc001svd http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001svd&org=rat UniGene Hs.280782 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.280782 UniProtKB BEST3_HUMAN http://www.uniprot.org/uniprot/BEST3_HUMAN UniProtKB-AC Q8N1M1 http://www.uniprot.org/uniprot/Q8N1M1 charge swissprot:BEST3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:BEST3_HUMAN eggNOG ENOG410XS3J http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XS3J eggNOG KOG3547 http://eggnogapi.embl.de/nog_data/html/tree/KOG3547 epestfind swissprot:BEST3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:BEST3_HUMAN garnier swissprot:BEST3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:BEST3_HUMAN helixturnhelix swissprot:BEST3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:BEST3_HUMAN hmoment swissprot:BEST3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:BEST3_HUMAN iep swissprot:BEST3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:BEST3_HUMAN inforesidue swissprot:BEST3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:BEST3_HUMAN neXtProt NX_Q8N1M1 http://www.nextprot.org/db/entry/NX_Q8N1M1 octanol swissprot:BEST3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:BEST3_HUMAN pepcoil swissprot:BEST3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:BEST3_HUMAN pepdigest swissprot:BEST3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:BEST3_HUMAN pepinfo swissprot:BEST3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:BEST3_HUMAN pepnet swissprot:BEST3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:BEST3_HUMAN pepstats swissprot:BEST3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:BEST3_HUMAN pepwheel swissprot:BEST3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:BEST3_HUMAN pepwindow swissprot:BEST3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:BEST3_HUMAN sigcleave swissprot:BEST3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:BEST3_HUMAN ## Database ID URL or Descriptions # AltName AT11B_HUMAN ATPase IR # AltName AT11B_HUMAN ATPase class VI type 11B # AltName AT11B_HUMAN P4-ATPase flippase complex alpha subunit ATP11B # BioGrid 116809 2 # CATALYTIC ACTIVITY AT11B_HUMAN ATP + H(2)O + phospholipid(Side 1) = ADP + phosphate + phospholipid(Side 2). # ChiTaRS ATP11B human # Ensembl ENST00000323116 ENSP00000321195; ENSG00000058063 # ExpressionAtlas Q9Y2G3 baseline and differential # FUNCTION AT11B_HUMAN Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules (Probable). Involved in regulation of sensitivity to cisplatin; may contribute to secretory vesicle transport of cisplatin from Golgi to plasma membrane. {ECO 0000269|PubMed 23585472, ECO 0000305}. # GO_component GO:0005637 nuclear inner membrane; NAS:UniProtKB. # GO_component GO:0005769 early endosome; IEA:UniProtKB-SubCell. # GO_component GO:0005783 endoplasmic reticulum; IDA:UniProtKB. # GO_component GO:0005794 Golgi apparatus; IEA:UniProtKB-SubCell. # GO_component GO:0005886 plasma membrane; IBA:GO_Central. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0055037 recycling endosome; IDA:UniProtKB. # GO_component GO:0055038 recycling endosome membrane; IEA:UniProtKB-SubCell. # GO_function GO:0000287 magnesium ion binding; IEA:InterPro. # GO_function GO:0004012 phospholipid-translocating ATPase activity; TAS:UniProtKB. # GO_function GO:0005524 ATP binding; IEA:UniProtKB-KW. # GO_function GO:0015075 ion transmembrane transporter activity; NAS:UniProtKB. # GO_process GO:0006811 ion transport; NAS:UniProtKB. # GO_process GO:0015917 aminophospholipid transport; TAS:UniProtKB. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0045332 phospholipid translocation; NAS:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005768 endosome # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_component GO:0005794 Golgi apparatus # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0055085 transmembrane transport # GOslim_process GO:0061024 membrane organization # Gene3D 2.70.150.10 -; 2. # Gene3D 3.40.1110.10 -; 2. # Gene3D 3.40.50.1000 -; 2. # Genevisible Q9Y2G3 HS # HGNC HGNC:13553 ATP11B # InterPro IPR001757 P_typ_ATPase # InterPro IPR006539 P-type_ATPase_IV # InterPro IPR008250 ATPase_P-typ_transduc_dom_A # InterPro IPR018303 ATPase_P-typ_P_site # InterPro IPR023214 HAD-like_dom # InterPro IPR023299 ATPase_P-typ_cyto_domN # InterPro IPR030362 ATP11B # InterPro IPR032630 P_typ_ATPase_c # InterPro IPR032631 P-type_ATPase_N # KEGG_Brite ko01000 Enzymes # MIM 605869 gene # MISCELLANEOUS AT11B_HUMAN Depletion of ATP11B by RNAi restores sensitivity of ovarian cancer cells to cisplatin. # Organism AT11B_HUMAN Homo sapiens (Human) # PANTHER PTHR24092 PTHR24092 # PANTHER PTHR24092:SF57 PTHR24092:SF57 # PIR T42662 T42662 # PROSITE PS00154 ATPASE_E1_E2 # Pfam PF00122 E1-E2_ATPase # Pfam PF16209 PhoLip_ATPase_N # Pfam PF16212 PhoLip_ATPase_C # Proteomes UP000005640 Chromosome 3 # Reactome R-HSA-6798695 Neutrophil degranulation # Reactome R-HSA-936837 Ion transport by P-type ATPases # RecName AT11B_HUMAN Probable phospholipid-transporting ATPase IF # RefSeq NP_055431 NM_014616.2 # SEQUENCE CAUTION Sequence=AAH10630.1; Type=Frameshift; Positions=884; Evidence={ECO:0000305}; Sequence=AAH42180.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IV subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION AT11B_HUMAN Recycling endosome membrane {ECO 0000269|PubMed 21914794}; Multi-pass membrane protein. Early endosome {ECO 0000269|PubMed 23585472}. Endoplasmic reticulum {ECO 0000269|PubMed 21914794}. Golgi apparatus, trans-Golgi network {ECO 0000269|PubMed 23585472}. Note=Exit from the endoplasmic reticulum requires the presence of TMEM30A, but not TMEM30B (PubMed 21914794). In the presence of TMEM30A, mainly located in recycling endosomes (PubMed 21914794). {ECO 0000269|PubMed 21914794}. # SUBUNIT Component of a P4-ATPase flippase complex which consists of a catalytic alpha subunit and an accessory beta subunit (Probable). Interacts with beta subunit TMEM30A. {ECO:0000269|PubMed 21914794, ECO:0000305}. # SUPFAM SSF56784 SSF56784; 3 # SUPFAM SSF81660 SSF81660; 2 # TCDB 3.A.3.8.12 the p-type atpase (p-atpase) superfamily # TIGRFAMs TIGR01494 ATPase_P-type; 3 # TIGRFAMs TIGR01652 ATPase-Plipid # UCSC uc003fla human # eggNOG COG0474 LUCA # eggNOG KOG0206 Eukaryota BLAST swissprot:AT11B_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:AT11B_HUMAN BioCyc ZFISH:HS00716-MONOMER http://biocyc.org/getid?id=ZFISH:HS00716-MONOMER COXPRESdb 23200 http://coxpresdb.jp/data/gene/23200.shtml CleanEx HS_ATP11B http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ATP11B DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature04728 http://dx.doi.org/10.1038/nature04728 DOI 10.1074/jbc.M111.281006 http://dx.doi.org/10.1074/jbc.M111.281006 DOI 10.1074/jbc.M200240200 http://dx.doi.org/10.1074/jbc.M200240200 DOI 10.1093/dnares/6.1.63 http://dx.doi.org/10.1093/dnares/6.1.63 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/scisignal.2000007 http://dx.doi.org/10.1126/scisignal.2000007 DOI 10.1172/JCI65425 http://dx.doi.org/10.1172/JCI65425 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 EC_number EC:3.6.3.1 http://www.genome.jp/dbget-bin/www_bget?EC:3.6.3.1 EMBL AB023173 http://www.ebi.ac.uk/ena/data/view/AB023173 EMBL AC069431 http://www.ebi.ac.uk/ena/data/view/AC069431 EMBL AF156548 http://www.ebi.ac.uk/ena/data/view/AF156548 EMBL AL133061 http://www.ebi.ac.uk/ena/data/view/AL133061 EMBL BC010630 http://www.ebi.ac.uk/ena/data/view/BC010630 EMBL BC042180 http://www.ebi.ac.uk/ena/data/view/BC042180 ENZYME 3.6.3.1 http://enzyme.expasy.org/EC/3.6.3.1 Ensembl ENST00000323116 http://www.ensembl.org/id/ENST00000323116 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005637 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005637 GO_component GO:0005769 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005769 GO_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GO_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0055037 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055037 GO_component GO:0055038 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055038 GO_function GO:0000287 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000287 GO_function GO:0004012 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004012 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0015075 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015075 GO_process GO:0006811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006811 GO_process GO:0015917 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015917 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0045332 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045332 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GOslim_process GO:0061024 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061024 Gene3D 2.70.150.10 http://www.cathdb.info/version/latest/superfamily/2.70.150.10 Gene3D 3.40.1110.10 http://www.cathdb.info/version/latest/superfamily/3.40.1110.10 Gene3D 3.40.50.1000 http://www.cathdb.info/version/latest/superfamily/3.40.50.1000 GeneCards ATP11B http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ATP11B GeneID 23200 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=23200 GeneTree ENSGT00860000133712 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00860000133712 HGNC HGNC:13553 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:13553 HOGENOM HOG000202528 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000202528&db=HOGENOM6 HOVERGEN HBG050601 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050601&db=HOVERGEN HPA HPA036237 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA036237 HPA HPA036238 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA036238 InParanoid Q9Y2G3 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9Y2G3 IntEnz 3.6.3.1 http://www.ebi.ac.uk/intenz/query?cmd=Search&q=3.6.3.1 InterPro IPR001757 http://www.ebi.ac.uk/interpro/entry/IPR001757 InterPro IPR006539 http://www.ebi.ac.uk/interpro/entry/IPR006539 InterPro IPR008250 http://www.ebi.ac.uk/interpro/entry/IPR008250 InterPro IPR018303 http://www.ebi.ac.uk/interpro/entry/IPR018303 InterPro IPR023214 http://www.ebi.ac.uk/interpro/entry/IPR023214 InterPro IPR023299 http://www.ebi.ac.uk/interpro/entry/IPR023299 InterPro IPR030362 http://www.ebi.ac.uk/interpro/entry/IPR030362 InterPro IPR032630 http://www.ebi.ac.uk/interpro/entry/IPR032630 InterPro IPR032631 http://www.ebi.ac.uk/interpro/entry/IPR032631 Jabion 23200 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=23200 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Gene hsa:23200 http://www.genome.jp/dbget-bin/www_bget?hsa:23200 KEGG_Orthology KO:K01530 http://www.genome.jp/dbget-bin/www_bget?KO:K01530 MIM 605869 http://www.ncbi.nlm.nih.gov/omim/605869 OMA TNTEKAQ http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=TNTEKAQ OrthoDB EOG091G03B1 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G03B1 PANTHER PTHR24092 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24092 PANTHER PTHR24092:SF57 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24092:SF57 PROSITE PS00154 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00154 PSORT swissprot:AT11B_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:AT11B_HUMAN PSORT-B swissprot:AT11B_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:AT11B_HUMAN PSORT2 swissprot:AT11B_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:AT11B_HUMAN Pfam PF00122 http://pfam.xfam.org/family/PF00122 Pfam PF16209 http://pfam.xfam.org/family/PF16209 Pfam PF16212 http://pfam.xfam.org/family/PF16212 PharmGKB PA25102 http://www.pharmgkb.org/do/serve?objId=PA25102&objCls=Gene Phobius swissprot:AT11B_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:AT11B_HUMAN PhylomeDB Q9Y2G3 http://phylomedb.org/?seqid=Q9Y2G3 ProteinModelPortal Q9Y2G3 http://www.proteinmodelportal.org/query/uniprot/Q9Y2G3 PubMed 10231032 http://www.ncbi.nlm.nih.gov/pubmed/10231032 PubMed 11015572 http://www.ncbi.nlm.nih.gov/pubmed/11015572 PubMed 11790799 http://www.ncbi.nlm.nih.gov/pubmed/11790799 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16641997 http://www.ncbi.nlm.nih.gov/pubmed/16641997 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 PubMed 19690332 http://www.ncbi.nlm.nih.gov/pubmed/19690332 PubMed 21914794 http://www.ncbi.nlm.nih.gov/pubmed/21914794 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 23585472 http://www.ncbi.nlm.nih.gov/pubmed/23585472 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 Reactome R-HSA-6798695 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6798695 Reactome R-HSA-936837 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-936837 RefSeq NP_055431 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_055431 STRING 9606.ENSP00000321195 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000321195&targetmode=cogs SUPFAM SSF56784 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF56784 SUPFAM SSF81660 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81660 TCDB 3.A.3.8.12 http://www.tcdb.org/search/result.php?tc=3.A.3.8.12 TIGRFAMs TIGR01494 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01494 TIGRFAMs TIGR01652 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01652 UCSC uc003fla http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003fla&org=rat UniGene Hs.478429 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.478429 UniProtKB AT11B_HUMAN http://www.uniprot.org/uniprot/AT11B_HUMAN UniProtKB-AC Q9Y2G3 http://www.uniprot.org/uniprot/Q9Y2G3 charge swissprot:AT11B_HUMAN http://rest.g-language.org/emboss/charge/swissprot:AT11B_HUMAN eggNOG COG0474 http://eggnogapi.embl.de/nog_data/html/tree/COG0474 eggNOG KOG0206 http://eggnogapi.embl.de/nog_data/html/tree/KOG0206 epestfind swissprot:AT11B_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:AT11B_HUMAN garnier swissprot:AT11B_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:AT11B_HUMAN helixturnhelix swissprot:AT11B_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:AT11B_HUMAN hmoment swissprot:AT11B_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:AT11B_HUMAN iep swissprot:AT11B_HUMAN http://rest.g-language.org/emboss/iep/swissprot:AT11B_HUMAN inforesidue swissprot:AT11B_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:AT11B_HUMAN neXtProt NX_Q9Y2G3 http://www.nextprot.org/db/entry/NX_Q9Y2G3 octanol swissprot:AT11B_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:AT11B_HUMAN pepcoil swissprot:AT11B_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:AT11B_HUMAN pepdigest swissprot:AT11B_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:AT11B_HUMAN pepinfo swissprot:AT11B_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:AT11B_HUMAN pepnet swissprot:AT11B_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:AT11B_HUMAN pepstats swissprot:AT11B_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:AT11B_HUMAN pepwheel swissprot:AT11B_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:AT11B_HUMAN pepwindow swissprot:AT11B_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:AT11B_HUMAN sigcleave swissprot:AT11B_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:AT11B_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS OAZ3_HUMAN Event=Ribosomal frameshifting, Alternative splicing; Named isoforms=2; Comment=A ribosomal frameshift occurs between the codons for Ser-76 and Glu-77. An autoregulatory mechanism enables modulation of frameshifting according to the cellular concentration of polyamines.; Name=1; IsoId=Q9UMX2-1; Sequence=Displayed; Name=2; IsoId=Q9UMX2-2; Sequence=VSP_056789, VSP_056790, VSP_056791; Note=No experimental confirmation available.; # BioGrid 119677 30 # CCDS CCDS58028 -. [Q9UMX2-2] # CCDS CCDS81378 -. [Q9UMX2-1] # DEVELOPMENTAL STAGE OAZ3_HUMAN Expression starts early in spermiogenesis and finishes in the late spermatid phase. # DrugBank DB00129 L-Ornithine # Ensembl ENST00000627780 ENSP00000486158; ENSG00000143450. [Q9UMX2-2] # ExpressionAtlas Q9UMX2 baseline and differential # FUNCTION OAZ3_HUMAN Ornithine decarboxylase (ODC) antizyme protein that negatively regulates ODC activity and intracellular polyamine biosynthesis and uptake by binding to ODC1 without promoting its degradation (PubMed 17900240). Stabilizes AZIN2 by interfering with its ubiquitination. Involved in the translocation of AZNI2 from ER-Golgi intermediate compartment (ERGIC) to the cytosol. Probably plays a key role in spermatogenesis by regulating the intracellular concentration of polyamines in haploid germ cells. {ECO 0000269|PubMed 17900240}. # GO_component GO:0005634 nucleus; IDA:UniProtKB. # GO_component GO:0005737 cytoplasm; IBA:GO_Central. # GO_component GO:0005829 cytosol; TAS:Reactome. # GO_component GO:0072562 blood microparticle; IDA:UniProtKB. # GO_function GO:0008073 ornithine decarboxylase inhibitor activity; IDA:UniProtKB. # GO_function GO:0015489 putrescine transmembrane transporter activity; ISS:UniProtKB. # GO_process GO:0006521 regulation of cellular amino acid metabolic process; TAS:Reactome. # GO_process GO:0006595 polyamine metabolic process; IBA:GO_Central. # GO_process GO:0006596 polyamine biosynthetic process; IEA:UniProtKB-KW. # GO_process GO:0007283 spermatogenesis; TAS:ProtInc. # GO_process GO:0045732 positive regulation of protein catabolic process; ISS:UniProtKB. # GO_process GO:1902268 negative regulation of polyamine transmembrane transport; ISS:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005829 cytosol # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0030234 enzyme regulator activity # GOslim_process GO:0008150 biological_process # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # Genevisible Q9UMX2 HS # HGNC HGNC:8097 OAZ3 # INTERACTION OAZ3_HUMAN O14977 AZIN1; NbExp=3; IntAct=EBI-10281601, EBI-1054824; Q96A70 AZIN2; NbExp=5; IntAct=EBI-10281601, EBI-10281609; Q9H2G9 BLZF1; NbExp=3; IntAct=EBI-10281601, EBI-2548012; Q6P1W5 C1orf94; NbExp=3; IntAct=EBI-10281601, EBI-946029; Q9UKT9 IKZF3; NbExp=3; IntAct=EBI-10281601, EBI-747204; Q96JM7 L3MBTL3; NbExp=3; IntAct=EBI-10281601, EBI-2686809; P11926 ODC1; NbExp=4; IntAct=EBI-12049527, EBI-1044287; Q04864 REL; NbExp=3; IntAct=EBI-10281601, EBI-307352; # IntAct Q9UMX2 10 # InterPro IPR002993 ODC_AZ # InterPro IPR016181 Acyl_CoA_acyltransferase # InterPro IPR029913 ODC-AZ_3 # MIM 605138 gene # Organism OAZ3_HUMAN Homo sapiens (Human) # PANTHER PTHR10279 PTHR10279 # PANTHER PTHR10279:SF9 PTHR10279:SF9 # PROSITE PS01337 ODC_AZ # Pfam PF02100 ODC_AZ # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-350562 Regulation of ornithine decarboxylase (ODC) # RecName OAZ3_HUMAN Ornithine decarboxylase antizyme 3 # RefSeq NP_001128411 NM_001134939.1 # RefSeq NP_001288300 NM_001301371.1 # RefSeq NP_057262 NM_016178.2. [Q9UMX2-1] # SEQUENCE CAUTION Sequence=AAD51734.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAD51734.1; Type=Miscellaneous discrepancy; Note=Unusual initiator. The initiator methionine is coded by a non-canonical CTG leucine codon.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the ODC antizyme family. {ECO 0000305}. # SUBCELLULAR LOCATION OAZ3_HUMAN Nucleus. Cytoplasm {ECO 0000250}. # SUBUNIT Interacts with GGN (By similarity). Interacts with AZIN2; the interaction stabilizes the complex by inhibiting AZIN2 ubiquitination and degradation and leads to increased ornithine decarboxylase (ODC) activity and decreased rate of ODC1 degradation. {ECO:0000250, ECO 0000269|PubMed:17900240}. # SUPFAM SSF55729 SSF55729 # TISSUE SPECIFICITY OAZ3_HUMAN Testis specific. # UCSC uc010pdl human. [Q9UMX2-1] # eggNOG ENOG4112791 LUCA # eggNOG KOG4387 Eukaryota BLAST swissprot:OAZ3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:OAZ3_HUMAN BioCyc ZFISH:ENSG00000143450-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000143450-MONOMER COXPRESdb 51686 http://coxpresdb.jp/data/gene/51686.shtml CleanEx HS_OAZ3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_OAZ3 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1042/BJ20071004 http://dx.doi.org/10.1042/BJ20071004 DOI 10.1073/pnas.070055897 http://dx.doi.org/10.1073/pnas.070055897 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DrugBank DB00129 http://www.drugbank.ca/drugs/DB00129 EMBL AF175296 http://www.ebi.ac.uk/ena/data/view/AF175296 EMBL AL589765 http://www.ebi.ac.uk/ena/data/view/AL589765 EMBL BC073949 http://www.ebi.ac.uk/ena/data/view/BC073949 Ensembl ENST00000627780 http://www.ensembl.org/id/ENST00000627780 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0072562 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0072562 GO_function GO:0008073 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008073 GO_function GO:0015489 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015489 GO_process GO:0006521 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006521 GO_process GO:0006595 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006595 GO_process GO:0006596 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006596 GO_process GO:0007283 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007283 GO_process GO:0045732 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045732 GO_process GO:1902268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902268 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0030234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030234 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GeneCards OAZ3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=OAZ3 GeneID 51686 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=51686 GeneTree ENSGT00390000009476 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000009476 HGNC HGNC:8097 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:8097 HOGENOM HOG000115254 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000115254&db=HOGENOM6 HOVERGEN HBG101008 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG101008&db=HOVERGEN InParanoid Q9UMX2 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9UMX2 IntAct Q9UMX2 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9UMX2* InterPro IPR002993 http://www.ebi.ac.uk/interpro/entry/IPR002993 InterPro IPR016181 http://www.ebi.ac.uk/interpro/entry/IPR016181 InterPro IPR029913 http://www.ebi.ac.uk/interpro/entry/IPR029913 Jabion 51686 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=51686 KEGG_Gene hsa:51686 http://www.genome.jp/dbget-bin/www_bget?hsa:51686 KEGG_Orthology KO:K16614 http://www.genome.jp/dbget-bin/www_bget?KO:K16614 MIM 605138 http://www.ncbi.nlm.nih.gov/omim/605138 PANTHER PTHR10279 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10279 PANTHER PTHR10279:SF9 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10279:SF9 PROSITE PS01337 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS01337 PSORT swissprot:OAZ3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:OAZ3_HUMAN PSORT-B swissprot:OAZ3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:OAZ3_HUMAN PSORT2 swissprot:OAZ3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:OAZ3_HUMAN Pfam PF02100 http://pfam.xfam.org/family/PF02100 PharmGKB PA31886 http://www.pharmgkb.org/do/serve?objId=PA31886&objCls=Gene Phobius swissprot:OAZ3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:OAZ3_HUMAN ProteinModelPortal Q9UMX2 http://www.proteinmodelportal.org/query/uniprot/Q9UMX2 PubMed 10781085 http://www.ncbi.nlm.nih.gov/pubmed/10781085 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 17900240 http://www.ncbi.nlm.nih.gov/pubmed/17900240 Reactome R-HSA-350562 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-350562 RefSeq NP_001128411 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001128411 RefSeq NP_001288300 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001288300 RefSeq NP_057262 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_057262 SMR Q9UMX2 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9UMX2 STRING 9606.ENSP00000415904 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000415904&targetmode=cogs SUPFAM SSF55729 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF55729 UCSC uc010pdl http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc010pdl&org=rat UniGene Hs.713789 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.713789 UniProtKB OAZ3_HUMAN http://www.uniprot.org/uniprot/OAZ3_HUMAN UniProtKB-AC Q9UMX2 http://www.uniprot.org/uniprot/Q9UMX2 charge swissprot:OAZ3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:OAZ3_HUMAN eggNOG ENOG4112791 http://eggnogapi.embl.de/nog_data/html/tree/ENOG4112791 eggNOG KOG4387 http://eggnogapi.embl.de/nog_data/html/tree/KOG4387 epestfind swissprot:OAZ3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:OAZ3_HUMAN garnier swissprot:OAZ3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:OAZ3_HUMAN helixturnhelix swissprot:OAZ3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:OAZ3_HUMAN hmoment swissprot:OAZ3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:OAZ3_HUMAN iep swissprot:OAZ3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:OAZ3_HUMAN inforesidue swissprot:OAZ3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:OAZ3_HUMAN neXtProt NX_Q9UMX2 http://www.nextprot.org/db/entry/NX_Q9UMX2 octanol swissprot:OAZ3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:OAZ3_HUMAN pepcoil swissprot:OAZ3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:OAZ3_HUMAN pepdigest swissprot:OAZ3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:OAZ3_HUMAN pepinfo swissprot:OAZ3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:OAZ3_HUMAN pepnet swissprot:OAZ3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:OAZ3_HUMAN pepstats swissprot:OAZ3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:OAZ3_HUMAN pepwheel swissprot:OAZ3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:OAZ3_HUMAN pepwindow swissprot:OAZ3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:OAZ3_HUMAN sigcleave swissprot:OAZ3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:OAZ3_HUMAN ## Database ID URL or Descriptions # AltName RBP1_HUMAN 76 kDa Ral-interacting protein # AltName RBP1_HUMAN Dinitrophenyl S-glutathione ATPase # AltName RBP1_HUMAN Ral-interacting protein 1 # BioGrid 116131 82 # ChiTaRS RALBP1 human # DrugBank DB00398 Sorafenib # DrugBank DB00541 Vincristine # DrugBank DB00564 Carbamazepine # DrugBank DB00997 Doxorubicin # Ensembl ENST00000019317 ENSP00000019317; ENSG00000017797 # Ensembl ENST00000383432 ENSP00000372924; ENSG00000017797 # ExpressionAtlas Q15311 baseline and differential # FUNCTION RBP1_HUMAN Can activate specifically hydrolysis of GTP bound to RAC1 and CDC42, but not RALA. Mediates ATP-dependent transport of S-(2,4-dinitrophenyl)-glutathione (DNP-SG) and doxorubicin (DOX) and is the major ATP-dependent transporter of glutathione conjugates of electrophiles (GS-E) and DOX in erythrocytes. Can catalyze transport of glutathione conjugates and xenobiotics, and may contribute to the multidrug resistance phenomenon. Serves as a scaffold protein that brings together proteins forming an endocytotic complex during interphase and also with CDK1 to switch off endocytosis, One of its substrates would be EPN1/Epsin. {ECO 0000269|PubMed 11437348, ECO 0000269|PubMed 12775724, ECO 0000269|PubMed 7673236}. # GO_component GO:0005829 cytosol; TAS:Reactome. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_function GO:0005096 GTPase activator activity; IDA:UniProtKB. # GO_function GO:0016887 ATPase activity; IDA:UniProtKB. # GO_function GO:0017160 Ral GTPase binding; IPI:UniProtKB. # GO_function GO:0022857 transmembrane transporter activity; IDA:ParkinsonsUK-UCL. # GO_function GO:0043492 ATPase activity, coupled to movement of substances; TAS:UniProtKB. # GO_function GO:0048365 Rac GTPase binding; IPI:UniProtKB. # GO_process GO:0006810 transport; IDA:UniProtKB. # GO_process GO:0006897 endocytosis; IBA:GO_Central. # GO_process GO:0006935 chemotaxis; TAS:ProtInc. # GO_process GO:0007165 signal transduction; TAS:ProtInc. # GO_process GO:0007264 small GTPase mediated signal transduction; IPI:UniProtKB. # GO_process GO:0043087 regulation of GTPase activity; IDA:UniProtKB. # GO_process GO:0043547 positive regulation of GTPase activity; IDA:UniProtKB. # GO_process GO:0051056 regulation of small GTPase mediated signal transduction; TAS:Reactome. # GO_process GO:0055085 transmembrane transport; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005829 cytosol # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0019899 enzyme binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0030234 enzyme regulator activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0016192 vesicle-mediated transport # GOslim_process GO:0040011 locomotion # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.10.555.10 -; 1. # Genevisible Q15311 HS # HGNC HGNC:9841 RALBP1 # INTERACTION RBP1_HUMAN Q9H6F0 -; NbExp=3; IntAct=EBI-749285, EBI-10307481; Q9Y2J4-4 AMOTL2; NbExp=3; IntAct=EBI-749285, EBI-10187270; Q8TAB5 C1orf216; NbExp=5; IntAct=EBI-749285, EBI-747505; Q16204 CCDC6; NbExp=4; IntAct=EBI-749285, EBI-1045350; P78556 CCL20; NbExp=2; IntAct=EBI-749285, EBI-3913209; Q86XR8 CEP57; NbExp=4; IntAct=EBI-749285, EBI-308614; Q13227 GPS2; NbExp=7; IntAct=EBI-749285, EBI-713355; Q63ZY3 KANK2; NbExp=4; IntAct=EBI-749285, EBI-2556193; O60437 PPL; NbExp=3; IntAct=EBI-749285, EBI-368321; Q969G3 SMARCE1; NbExp=5; IntAct=EBI-749285, EBI-455078; Q86VP1 TAX1BP1; NbExp=3; IntAct=EBI-749285, EBI-529518; Q05BL0 TBRG1; NbExp=3; IntAct=EBI-749285, EBI-10223693; G5E9B5 TFPT; NbExp=5; IntAct=EBI-749285, EBI-10178002; Q15025 TNIP1; NbExp=3; IntAct=EBI-749285, EBI-357849; Q96C28 ZNF707; NbExp=3; IntAct=EBI-749285, EBI-748111; # IntAct Q15311 46 # InterPro IPR000198 RhoGAP_dom # InterPro IPR008936 Rho_GTPase_activation_prot # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Pathway ko05200 Pathways in cancer # KEGG_Pathway ko05212 Pancreatic cancer # MIM 605801 gene # Organism RBP1_HUMAN Homo sapiens (Human) # PDB 2KWH NMR; -; A=393-446 # PDB 2KWI NMR; -; B=393-446 # PDB 2MBG NMR; -; A=184-446 # PIR F59435 F59435 # PROSITE PS50238 RHOGAP # Pfam PF00620 RhoGAP # Proteomes UP000005640 Chromosome 18 # Reactome R-HSA-194840 Rho GTPase cycle # RecName RBP1_HUMAN RalA-binding protein 1 # RefSeq NP_006779 NM_006788.3 # SIMILARITY Contains 1 Rho-GAP domain. {ECO:0000255|PROSITE- ProRule PRU00172}. # SMART SM00324 RhoGAP # SUBCELLULAR LOCATION RBP1_HUMAN Membrane {ECO 0000269|PubMed 11437348}; Peripheral membrane protein {ECO 0000269|PubMed 11437348}. # SUBUNIT RBP1_HUMAN Interacts with the GTP-bound form of RALA, RALB, CDC42 and RAC1. Interacts with REPS1 and REPS2 and this does not affect the Ral-binding activity. Interacts with DAB2IP. Interacts with catalytically active CCNB1 and CDK1 during mitosis. Interacts with EPN1, NUMB and TFAP2A during interphase and mitosis. {ECO 0000269|PubMed 12775724, ECO 0000269|PubMed 15310755, ECO 0000269|PubMed 20696399, ECO 0000269|PubMed 7673236, ECO 0000269|PubMed 9422736}. # SUPFAM SSF48350 SSF48350 # TCDB 9.A.1.1 the non abc multidrug exporter (n-mde) family # TISSUE SPECIFICITY Expressed ubiquitously but at low levels. Shows a strong expression in the erythrocytes. {ECO:0000269|PubMed 11437348}. # UCSC uc002kob human # eggNOG ENOG410XRJ9 LUCA # eggNOG KOG4370 Eukaryota BLAST swissprot:RBP1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:RBP1_HUMAN BioCyc ZFISH:ENSG00000017797-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000017797-MONOMER COXPRESdb 10928 http://coxpresdb.jp/data/gene/10928.shtml CleanEx HS_RALBP1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_RALBP1 DOI 10.1006/abbi.2001.2395 http://dx.doi.org/10.1006/abbi.2001.2395 DOI 10.1016/j.cell.2006.09.026 http://dx.doi.org/10.1016/j.cell.2006.09.026 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1016/j.str.2010.05.013 http://dx.doi.org/10.1016/j.str.2010.05.013 DOI 10.1021/ac9004309 http://dx.doi.org/10.1021/ac9004309 DOI 10.1021/bi992964c http://dx.doi.org/10.1021/bi992964c DOI 10.1021/pr0704130 http://dx.doi.org/10.1021/pr0704130 DOI 10.1021/pr0705441 http://dx.doi.org/10.1021/pr0705441 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1074/jbc.270.38.22473 http://dx.doi.org/10.1074/jbc.270.38.22473 DOI 10.1074/jbc.273.2.814 http://dx.doi.org/10.1074/jbc.273.2.814 DOI 10.1074/jbc.M302191200 http://dx.doi.org/10.1074/jbc.M302191200 DOI 10.1074/jbc.M407617200 http://dx.doi.org/10.1074/jbc.M407617200 DOI 10.1074/mcp.M800588-MCP200 http://dx.doi.org/10.1074/mcp.M800588-MCP200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/scisignal.2000007 http://dx.doi.org/10.1126/scisignal.2000007 DOI 10.1126/scisignal.2001570 http://dx.doi.org/10.1126/scisignal.2001570 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DrugBank DB00398 http://www.drugbank.ca/drugs/DB00398 DrugBank DB00541 http://www.drugbank.ca/drugs/DB00541 DrugBank DB00564 http://www.drugbank.ca/drugs/DB00564 DrugBank DB00997 http://www.drugbank.ca/drugs/DB00997 EMBL BC013126 http://www.ebi.ac.uk/ena/data/view/BC013126 EMBL CH471113 http://www.ebi.ac.uk/ena/data/view/CH471113 EMBL CH471113 http://www.ebi.ac.uk/ena/data/view/CH471113 EMBL CH471113 http://www.ebi.ac.uk/ena/data/view/CH471113 EMBL CH471113 http://www.ebi.ac.uk/ena/data/view/CH471113 EMBL L42542 http://www.ebi.ac.uk/ena/data/view/L42542 Ensembl ENST00000019317 http://www.ensembl.org/id/ENST00000019317 Ensembl ENST00000383432 http://www.ensembl.org/id/ENST00000383432 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_function GO:0005096 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005096 GO_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GO_function GO:0017160 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0017160 GO_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GO_function GO:0043492 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043492 GO_function GO:0048365 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048365 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0006897 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006897 GO_process GO:0006935 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006935 GO_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GO_process GO:0007264 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007264 GO_process GO:0043087 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043087 GO_process GO:0043547 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043547 GO_process GO:0051056 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051056 GO_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0030234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030234 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0016192 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016192 GOslim_process GO:0040011 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0040011 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.10.555.10 http://www.cathdb.info/version/latest/superfamily/1.10.555.10 GeneCards RALBP1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=RALBP1 GeneID 10928 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=10928 GeneTree ENSGT00840000129752 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00840000129752 HGNC HGNC:9841 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:9841 HOGENOM HOG000007929 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000007929&db=HOGENOM6 HOVERGEN HBG044496 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG044496&db=HOVERGEN HPA CAB046010 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB046010 HPA HPA046651 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA046651 InParanoid Q15311 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q15311 IntAct Q15311 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q15311* InterPro IPR000198 http://www.ebi.ac.uk/interpro/entry/IPR000198 InterPro IPR008936 http://www.ebi.ac.uk/interpro/entry/IPR008936 Jabion 10928 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=10928 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Gene hsa:10928 http://www.genome.jp/dbget-bin/www_bget?hsa:10928 KEGG_Orthology KO:K08773 http://www.genome.jp/dbget-bin/www_bget?KO:K08773 KEGG_Pathway ko05200 http://www.genome.jp/kegg-bin/show_pathway?ko05200 KEGG_Pathway ko05212 http://www.genome.jp/kegg-bin/show_pathway?ko05212 MIM 605801 http://www.ncbi.nlm.nih.gov/omim/605801 MINT MINT-140436 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-140436 OMA YDELMEW http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=YDELMEW OrthoDB EOG091G01CT http://cegg.unige.ch/orthodb/results?searchtext=EOG091G01CT PDB 2KWH http://www.ebi.ac.uk/pdbe-srv/view/entry/2KWH PDB 2KWI http://www.ebi.ac.uk/pdbe-srv/view/entry/2KWI PDB 2MBG http://www.ebi.ac.uk/pdbe-srv/view/entry/2MBG PDBsum 2KWH http://www.ebi.ac.uk/pdbsum/2KWH PDBsum 2KWI http://www.ebi.ac.uk/pdbsum/2KWI PDBsum 2MBG http://www.ebi.ac.uk/pdbsum/2MBG PROSITE PS50238 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50238 PSORT swissprot:RBP1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:RBP1_HUMAN PSORT-B swissprot:RBP1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:RBP1_HUMAN PSORT2 swissprot:RBP1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:RBP1_HUMAN Pfam PF00620 http://pfam.xfam.org/family/PF00620 PharmGKB PA34199 http://www.pharmgkb.org/do/serve?objId=PA34199&objCls=Gene Phobius swissprot:RBP1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:RBP1_HUMAN PhylomeDB Q15311 http://phylomedb.org/?seqid=Q15311 ProteinModelPortal Q15311 http://www.proteinmodelportal.org/query/uniprot/Q15311 PubMed 10924126 http://www.ncbi.nlm.nih.gov/pubmed/10924126 PubMed 11437348 http://www.ncbi.nlm.nih.gov/pubmed/11437348 PubMed 12775724 http://www.ncbi.nlm.nih.gov/pubmed/12775724 PubMed 15310755 http://www.ncbi.nlm.nih.gov/pubmed/15310755 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 17081983 http://www.ncbi.nlm.nih.gov/pubmed/17081983 PubMed 18088087 http://www.ncbi.nlm.nih.gov/pubmed/18088087 PubMed 18220336 http://www.ncbi.nlm.nih.gov/pubmed/18220336 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 19369195 http://www.ncbi.nlm.nih.gov/pubmed/19369195 PubMed 19413330 http://www.ncbi.nlm.nih.gov/pubmed/19413330 PubMed 19690332 http://www.ncbi.nlm.nih.gov/pubmed/19690332 PubMed 20696399 http://www.ncbi.nlm.nih.gov/pubmed/20696399 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 21406692 http://www.ncbi.nlm.nih.gov/pubmed/21406692 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 7673236 http://www.ncbi.nlm.nih.gov/pubmed/7673236 PubMed 9422736 http://www.ncbi.nlm.nih.gov/pubmed/9422736 Reactome R-HSA-194840 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-194840 RefSeq NP_006779 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_006779 SMART SM00324 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00324 SMR Q15311 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q15311 STRING 9606.ENSP00000019317 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000019317&targetmode=cogs SUPFAM SSF48350 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48350 TCDB 9.A.1.1 http://www.tcdb.org/search/result.php?tc=9.A.1.1 UCSC uc002kob http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002kob&org=rat UniGene Hs.528993 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.528993 UniProtKB RBP1_HUMAN http://www.uniprot.org/uniprot/RBP1_HUMAN UniProtKB-AC Q15311 http://www.uniprot.org/uniprot/Q15311 charge swissprot:RBP1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:RBP1_HUMAN eggNOG ENOG410XRJ9 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XRJ9 eggNOG KOG4370 http://eggnogapi.embl.de/nog_data/html/tree/KOG4370 epestfind swissprot:RBP1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:RBP1_HUMAN garnier swissprot:RBP1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:RBP1_HUMAN helixturnhelix swissprot:RBP1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:RBP1_HUMAN hmoment swissprot:RBP1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:RBP1_HUMAN iep swissprot:RBP1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:RBP1_HUMAN inforesidue swissprot:RBP1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:RBP1_HUMAN neXtProt NX_Q15311 http://www.nextprot.org/db/entry/NX_Q15311 octanol swissprot:RBP1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:RBP1_HUMAN pepcoil swissprot:RBP1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:RBP1_HUMAN pepdigest swissprot:RBP1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:RBP1_HUMAN pepinfo swissprot:RBP1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:RBP1_HUMAN pepnet swissprot:RBP1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:RBP1_HUMAN pepstats swissprot:RBP1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:RBP1_HUMAN pepwheel swissprot:RBP1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:RBP1_HUMAN pepwindow swissprot:RBP1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:RBP1_HUMAN sigcleave swissprot:RBP1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:RBP1_HUMAN ## Database ID URL or Descriptions # BioGrid 117924 62 # ChiTaRS RANBP6 human # Ensembl ENST00000259569 ENSP00000259569; ENSG00000137040 # ExpressionAtlas O60518 baseline and differential # FUNCTION RNBP6_HUMAN May function in nuclear protein import as nuclear transport receptor. # GO_component GO:0005737 cytoplasm; IBA:GO_Central. # GO_component GO:0031965 nuclear membrane; IBA:GO_Central. # GO_component GO:0034399 nuclear periphery; IBA:GO_Central. # GO_function GO:0008139 nuclear localization sequence binding; IBA:GO_Central. # GO_function GO:0008565 protein transporter activity; IBA:GO_Central. # GO_process GO:0000059 protein import into nucleus, docking; IBA:GO_Central. # GO_process GO:0000060 protein import into nucleus, translocation; IBA:GO_Central. # GO_process GO:0006607 NLS-bearing protein import into nucleus; IBA:GO_Central. # GO_process GO:0006610 ribosomal protein import into nucleus; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0008565 protein transporter activity # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # GOslim_process GO:0006913 nucleocytoplasmic transport # Gene3D 1.25.10.10 -; 3. # Genevisible O60518 HS # HGNC HGNC:9851 RANBP6 # INTERACTION RNBP6_HUMAN Q76353 - (xeno); NbExp=2; IntAct=EBI-1055771, EBI-6248077; # IntAct O60518 6 # InterPro IPR000357 HEAT # InterPro IPR011989 ARM-like # InterPro IPR016024 ARM-type_fold # Organism RNBP6_HUMAN Homo sapiens (Human) # Pfam PF02985 HEAT # Proteomes UP000005640 Chromosome 9 # RecName RNBP6_HUMAN Ran-binding protein 6 # RefSeq NP_001230131 NM_001243202.1 # RefSeq NP_001230132 NM_001243203.1 # RefSeq NP_036548 NM_012416.3 # SEQUENCE CAUTION Sequence=CAD97647.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the importin beta family. {ECO 0000305}. # SIMILARITY Contains 7 HEAT repeats. {ECO 0000305}. # SUBCELLULAR LOCATION RNBP6_HUMAN Cytoplasm {ECO 0000250}. Nucleus {ECO 0000250}. # SUPFAM SSF48371 SSF48371; 3 # UCSC uc003zjr human # eggNOG ENOG410XQAJ LUCA # eggNOG KOG2171 Eukaryota BLAST swissprot:RNBP6_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:RNBP6_HUMAN BioCyc ZFISH:ENSG00000137040-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000137040-MONOMER COXPRESdb 26953 http://coxpresdb.jp/data/gene/26953.shtml CleanEx HS_RANBP6 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_RANBP6 DOI 10.1021/ac9004309 http://dx.doi.org/10.1021/ac9004309 DOI 10.1038/nature02465 http://dx.doi.org/10.1038/nature02465 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 EMBL AF039023 http://www.ebi.ac.uk/ena/data/view/AF039023 EMBL AL162384 http://www.ebi.ac.uk/ena/data/view/AL162384 EMBL BC012805 http://www.ebi.ac.uk/ena/data/view/BC012805 EMBL BC098406 http://www.ebi.ac.uk/ena/data/view/BC098406 EMBL BX537405 http://www.ebi.ac.uk/ena/data/view/BX537405 Ensembl ENST00000259569 http://www.ensembl.org/id/ENST00000259569 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0031965 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031965 GO_component GO:0034399 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034399 GO_function GO:0008139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008139 GO_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GO_process GO:0000059 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000059 GO_process GO:0000060 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000060 GO_process GO:0006607 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006607 GO_process GO:0006610 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006610 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006913 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006913 Gene3D 1.25.10.10 http://www.cathdb.info/version/latest/superfamily/1.25.10.10 GeneCards RANBP6 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=RANBP6 GeneID 26953 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=26953 GeneTree ENSGT00550000074773 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074773 H-InvDB HIX0007906 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0007906 HGNC HGNC:9851 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:9851 HOGENOM HOG000209725 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000209725&db=HOGENOM6 HOVERGEN HBG006156 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG006156&db=HOVERGEN HPA HPA043748 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA043748 HPA HPA052684 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA052684 InParanoid O60518 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O60518 IntAct O60518 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O60518* InterPro IPR000357 http://www.ebi.ac.uk/interpro/entry/IPR000357 InterPro IPR011989 http://www.ebi.ac.uk/interpro/entry/IPR011989 InterPro IPR016024 http://www.ebi.ac.uk/interpro/entry/IPR016024 Jabion 26953 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=26953 KEGG_Gene hsa:26953 http://www.genome.jp/dbget-bin/www_bget?hsa:26953 MINT MINT-1196413 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1196413 OMA FGTQERH http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=FGTQERH OrthoDB EOG091G011X http://cegg.unige.ch/orthodb/results?searchtext=EOG091G011X PSORT swissprot:RNBP6_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:RNBP6_HUMAN PSORT-B swissprot:RNBP6_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:RNBP6_HUMAN PSORT2 swissprot:RNBP6_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:RNBP6_HUMAN Pfam PF02985 http://pfam.xfam.org/family/PF02985 PharmGKB PA34212 http://www.pharmgkb.org/do/serve?objId=PA34212&objCls=Gene Phobius swissprot:RNBP6_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:RNBP6_HUMAN PhylomeDB O60518 http://phylomedb.org/?seqid=O60518 ProteinModelPortal O60518 http://www.proteinmodelportal.org/query/uniprot/O60518 PubMed 15164053 http://www.ncbi.nlm.nih.gov/pubmed/15164053 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 PubMed 19413330 http://www.ncbi.nlm.nih.gov/pubmed/19413330 RefSeq NP_001230131 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001230131 RefSeq NP_001230132 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001230132 RefSeq NP_036548 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_036548 SMR O60518 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=O60518 STRING 9606.ENSP00000259569 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000259569&targetmode=cogs SUPFAM SSF48371 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48371 UCSC uc003zjr http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003zjr&org=rat UniGene Hs.167496 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.167496 UniGene Hs.732683 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.732683 UniProtKB RNBP6_HUMAN http://www.uniprot.org/uniprot/RNBP6_HUMAN UniProtKB-AC O60518 http://www.uniprot.org/uniprot/O60518 charge swissprot:RNBP6_HUMAN http://rest.g-language.org/emboss/charge/swissprot:RNBP6_HUMAN eggNOG ENOG410XQAJ http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XQAJ eggNOG KOG2171 http://eggnogapi.embl.de/nog_data/html/tree/KOG2171 epestfind swissprot:RNBP6_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:RNBP6_HUMAN garnier swissprot:RNBP6_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:RNBP6_HUMAN helixturnhelix swissprot:RNBP6_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:RNBP6_HUMAN hmoment swissprot:RNBP6_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:RNBP6_HUMAN iep swissprot:RNBP6_HUMAN http://rest.g-language.org/emboss/iep/swissprot:RNBP6_HUMAN inforesidue swissprot:RNBP6_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:RNBP6_HUMAN neXtProt NX_O60518 http://www.nextprot.org/db/entry/NX_O60518 octanol swissprot:RNBP6_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:RNBP6_HUMAN pepcoil swissprot:RNBP6_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:RNBP6_HUMAN pepdigest swissprot:RNBP6_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:RNBP6_HUMAN pepinfo swissprot:RNBP6_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:RNBP6_HUMAN pepnet swissprot:RNBP6_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:RNBP6_HUMAN pepstats swissprot:RNBP6_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:RNBP6_HUMAN pepwheel swissprot:RNBP6_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:RNBP6_HUMAN pepwindow swissprot:RNBP6_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:RNBP6_HUMAN sigcleave swissprot:RNBP6_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:RNBP6_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS ABCA9_HUMAN Event=Alternative splicing; Named isoforms=5; Name=1; IsoId=Q8IUA7-1; Sequence=Displayed; Name=2; Synonyms=ABCA9delta+55; IsoId=Q8IUA7-2; Sequence=VSP_020705; Note=No experimental confirmation available.; Name=3; Synonyms=ABCA9delta+73; IsoId=Q8IUA7-3; Sequence=VSP_020707, VSP_020709; Note=No experimental confirmation available.; Name=4; Synonyms=ABCA9delta-95; IsoId=Q8IUA7-4; Sequence=VSP_020708, VSP_020709; Note=No experimental confirmation available.; Name=5; IsoId=Q8IUA7-5; Sequence=VSP_020706; Note=No experimental confirmation available.; # CCDS CCDS11681 -. [Q8IUA7-1] # DEVELOPMENTAL STAGE Expressed in fetal tissues with higher expression in fetal heart and kidney. {ECO:0000269|PubMed 12150964}. # Ensembl ENST00000340001 ENSP00000342216; ENSG00000154258. [Q8IUA7-1] # Ensembl ENST00000495634 ENSP00000465601; ENSG00000154258. [Q8IUA7-5] # ExpressionAtlas Q8IUA7 baseline and differential # FUNCTION ABCA9_HUMAN May play a role in monocyte differentiation and lipid homeostasis. {ECO 0000269|PubMed 12150964}. # GO_component GO:0005743 mitochondrial inner membrane; IBA:GO_Central. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0005524 ATP binding; IEA:UniProtKB-KW. # GO_function GO:0042626 ATPase activity, coupled to transmembrane movement of substances; IBA:GO_Central. # GO_process GO:0006869 lipid transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # Gene3D 3.40.50.300 -; 2. # Genevisible Q8IUA7 HS # HGNC HGNC:39 ABCA9 # INDUCTION Up-regulated during monocyte differentiation into macrophages. Down-regulated by cholesterol loading of macrophages. {ECO:0000269|PubMed 12150964}. # IntAct Q8IUA7 2 # InterPro IPR003439 ABC_transporter-like # InterPro IPR003593 AAA+_ATPase # InterPro IPR026082 ABC_A # InterPro IPR027417 P-loop_NTPase # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02000 Transporters # KEGG_Pathway ko02010 ABC transporters # MIM 612507 gene # Organism ABCA9_HUMAN Homo sapiens (Human) # PANTHER PTHR19229 PTHR19229 # PROSITE PS50893 ABC_TRANSPORTER_2; 2 # Pfam PF00005 ABC_tran; 2 # Proteomes UP000005640 Chromosome 17 # Reactome R-HSA-1369062 ABC transporters in lipid homeostasis # RecName ABCA9_HUMAN ATP-binding cassette sub-family A member 9 # RefSeq NP_525022 NM_080283.3. [Q8IUA7-1] # SEQUENCE CAUTION Sequence=AAH62472.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAC11021.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the ABC transporter superfamily. ABCA family. {ECO 0000305}. # SIMILARITY Contains 2 ABC transporter domains. {ECO:0000255|PROSITE-ProRule PRU00434}. # SMART SM00382 AAA; 2 # SUBCELLULAR LOCATION ABCA9_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # SUPFAM SSF52540 SSF52540; 2 # TCDB 3.A.1.211.16 the atp-binding cassette (abc) superfamily # TISSUE SPECIFICITY Widely expressed with higher expression in heart. {ECO 0000269|Ref.1}. # UCSC uc002jhu human. [Q8IUA7-1] # WEB RESOURCE ABCA9_HUMAN Name=ABCMdb; Note=Database for mutations in ABC proteins; URL="http //abcmutations.hegelab.org/proteinDetails?uniprot_id=Q8IUA7"; # eggNOG COG1131 LUCA # eggNOG KOG0059 Eukaryota BLAST swissprot:ABCA9_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ABCA9_HUMAN COXPRESdb 10350 http://coxpresdb.jp/data/gene/10350.shtml CleanEx HS_ABCA9 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ABCA9 DOI 10.1016/S0006-291X(02)00659-9 http://dx.doi.org/10.1016/S0006-291X(02)00659-9 DOI 10.1021/pr8008012 http://dx.doi.org/10.1021/pr8008012 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AF423307 http://www.ebi.ac.uk/ena/data/view/AF423307 EMBL AF423308 http://www.ebi.ac.uk/ena/data/view/AF423308 EMBL AF423309 http://www.ebi.ac.uk/ena/data/view/AF423309 EMBL AF423310 http://www.ebi.ac.uk/ena/data/view/AF423310 EMBL AF423311 http://www.ebi.ac.uk/ena/data/view/AF423311 EMBL AF423312 http://www.ebi.ac.uk/ena/data/view/AF423312 EMBL AF423313 http://www.ebi.ac.uk/ena/data/view/AF423313 EMBL AF423314 http://www.ebi.ac.uk/ena/data/view/AF423314 EMBL AF423315 http://www.ebi.ac.uk/ena/data/view/AF423315 EMBL AF423316 http://www.ebi.ac.uk/ena/data/view/AF423316 EMBL AF423317 http://www.ebi.ac.uk/ena/data/view/AF423317 EMBL AF423318 http://www.ebi.ac.uk/ena/data/view/AF423318 EMBL AF423320 http://www.ebi.ac.uk/ena/data/view/AF423320 EMBL AF423321 http://www.ebi.ac.uk/ena/data/view/AF423321 EMBL AF423322 http://www.ebi.ac.uk/ena/data/view/AF423322 EMBL AF423323 http://www.ebi.ac.uk/ena/data/view/AF423323 EMBL AF423324 http://www.ebi.ac.uk/ena/data/view/AF423324 EMBL AF423325 http://www.ebi.ac.uk/ena/data/view/AF423325 EMBL AF423326 http://www.ebi.ac.uk/ena/data/view/AF423326 EMBL AF423327 http://www.ebi.ac.uk/ena/data/view/AF423327 EMBL AF423328 http://www.ebi.ac.uk/ena/data/view/AF423328 EMBL AF423329 http://www.ebi.ac.uk/ena/data/view/AF423329 EMBL AF423330 http://www.ebi.ac.uk/ena/data/view/AF423330 EMBL AF423331 http://www.ebi.ac.uk/ena/data/view/AF423331 EMBL AF423332 http://www.ebi.ac.uk/ena/data/view/AF423332 EMBL AF423333 http://www.ebi.ac.uk/ena/data/view/AF423333 EMBL AF423334 http://www.ebi.ac.uk/ena/data/view/AF423334 EMBL AF423335 http://www.ebi.ac.uk/ena/data/view/AF423335 EMBL AF423336 http://www.ebi.ac.uk/ena/data/view/AF423336 EMBL AF423337 http://www.ebi.ac.uk/ena/data/view/AF423337 EMBL AF423338 http://www.ebi.ac.uk/ena/data/view/AF423338 EMBL AF423339 http://www.ebi.ac.uk/ena/data/view/AF423339 EMBL AF423340 http://www.ebi.ac.uk/ena/data/view/AF423340 EMBL AF423341 http://www.ebi.ac.uk/ena/data/view/AF423341 EMBL AF423342 http://www.ebi.ac.uk/ena/data/view/AF423342 EMBL AF423343 http://www.ebi.ac.uk/ena/data/view/AF423343 EMBL AF423344 http://www.ebi.ac.uk/ena/data/view/AF423344 EMBL AF423345 http://www.ebi.ac.uk/ena/data/view/AF423345 EMBL AF423346 http://www.ebi.ac.uk/ena/data/view/AF423346 EMBL AK057068 http://www.ebi.ac.uk/ena/data/view/AK057068 EMBL AK074491 http://www.ebi.ac.uk/ena/data/view/AK074491 EMBL AY028899 http://www.ebi.ac.uk/ena/data/view/AY028899 EMBL BC062472 http://www.ebi.ac.uk/ena/data/view/BC062472 Ensembl ENST00000340001 http://www.ensembl.org/id/ENST00000340001 Ensembl ENST00000495634 http://www.ensembl.org/id/ENST00000495634 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0042626 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042626 GO_process GO:0006869 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006869 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 Gene3D 3.40.50.300 http://www.cathdb.info/version/latest/superfamily/3.40.50.300 GeneCards ABCA9 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ABCA9 GeneID 10350 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=10350 GeneTree ENSGT00760000118965 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118965 H-InvDB HIX0014120 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0014120 HGNC HGNC:39 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:39 HOGENOM HOG000231057 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231057&db=HOGENOM6 HOVERGEN HBG079884 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG079884&db=HOVERGEN HPA HPA054823 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA054823 InParanoid Q8IUA7 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8IUA7 IntAct Q8IUA7 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q8IUA7* InterPro IPR003439 http://www.ebi.ac.uk/interpro/entry/IPR003439 InterPro IPR003593 http://www.ebi.ac.uk/interpro/entry/IPR003593 InterPro IPR026082 http://www.ebi.ac.uk/interpro/entry/IPR026082 InterPro IPR027417 http://www.ebi.ac.uk/interpro/entry/IPR027417 Jabion 10350 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=10350 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Gene hsa:10350 http://www.genome.jp/dbget-bin/www_bget?hsa:10350 KEGG_Orthology KO:K05651 http://www.genome.jp/dbget-bin/www_bget?KO:K05651 KEGG_Pathway ko02010 http://www.genome.jp/kegg-bin/show_pathway?ko02010 MIM 612507 http://www.ncbi.nlm.nih.gov/omim/612507 OMA CLEMKFR http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=CLEMKFR OrthoDB EOG091G00AG http://cegg.unige.ch/orthodb/results?searchtext=EOG091G00AG PANTHER PTHR19229 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR19229 PROSITE PS50893 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50893 PSORT swissprot:ABCA9_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ABCA9_HUMAN PSORT-B swissprot:ABCA9_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ABCA9_HUMAN PSORT2 swissprot:ABCA9_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ABCA9_HUMAN Pfam PF00005 http://pfam.xfam.org/family/PF00005 PharmGKB PA24384 http://www.pharmgkb.org/do/serve?objId=PA24384&objCls=Gene Phobius swissprot:ABCA9_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ABCA9_HUMAN PhylomeDB Q8IUA7 http://phylomedb.org/?seqid=Q8IUA7 ProteinModelPortal Q8IUA7 http://www.proteinmodelportal.org/query/uniprot/Q8IUA7 PubMed 12150964 http://www.ncbi.nlm.nih.gov/pubmed/12150964 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 19159218 http://www.ncbi.nlm.nih.gov/pubmed/19159218 Reactome R-HSA-1369062 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1369062 RefSeq NP_525022 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_525022 SMART SM00382 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00382 SMR Q8IUA7 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q8IUA7 STRING 9606.ENSP00000342216 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000342216&targetmode=cogs SUPFAM SSF52540 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52540 TCDB 3.A.1.211.16 http://www.tcdb.org/search/result.php?tc=3.A.1.211.16 UCSC uc002jhu http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002jhu&org=rat UniGene Hs.131686 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.131686 UniProtKB ABCA9_HUMAN http://www.uniprot.org/uniprot/ABCA9_HUMAN UniProtKB-AC Q8IUA7 http://www.uniprot.org/uniprot/Q8IUA7 charge swissprot:ABCA9_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ABCA9_HUMAN eggNOG COG1131 http://eggnogapi.embl.de/nog_data/html/tree/COG1131 eggNOG KOG0059 http://eggnogapi.embl.de/nog_data/html/tree/KOG0059 epestfind swissprot:ABCA9_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ABCA9_HUMAN garnier swissprot:ABCA9_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ABCA9_HUMAN helixturnhelix swissprot:ABCA9_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ABCA9_HUMAN hmoment swissprot:ABCA9_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ABCA9_HUMAN iep swissprot:ABCA9_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ABCA9_HUMAN inforesidue swissprot:ABCA9_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ABCA9_HUMAN neXtProt NX_Q8IUA7 http://www.nextprot.org/db/entry/NX_Q8IUA7 octanol swissprot:ABCA9_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ABCA9_HUMAN pepcoil swissprot:ABCA9_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ABCA9_HUMAN pepdigest swissprot:ABCA9_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ABCA9_HUMAN pepinfo swissprot:ABCA9_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ABCA9_HUMAN pepnet swissprot:ABCA9_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ABCA9_HUMAN pepstats swissprot:ABCA9_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ABCA9_HUMAN pepwheel swissprot:ABCA9_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ABCA9_HUMAN pepwindow swissprot:ABCA9_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ABCA9_HUMAN sigcleave swissprot:ABCA9_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ABCA9_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S47A1_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q96FL8-1; Sequence=Displayed; Name=2; IsoId=Q96FL8-2; Sequence=VSP_029903, VSP_029904; Note=No experimental confirmation available.; Name=3; IsoId=Q96FL8-3; Sequence=VSP_029905; Note=No experimental confirmation available.; # AltName S47A1_HUMAN Solute carrier family 47 member 1 # BIOPHYSICOCHEMICAL PROPERTIES S47A1_HUMAN Kinetic parameters KM=0.38 mM for TEA {ECO 0000269|PubMed 16330770, ECO 0000269|PubMed 17509534}; KM=0.10 mM for MPP {ECO 0000269|PubMed 16330770, ECO 0000269|PubMed 17509534}; KM=0.17 mM for cimetidine {ECO 0000269|PubMed 16330770, ECO 0000269|PubMed 17509534}; KM=0.78 mM for metformin {ECO 0000269|PubMed 16330770, ECO 0000269|PubMed 17509534}; KM=2.1 mM for guanidine {ECO 0000269|PubMed 16330770, ECO 0000269|PubMed 17509534}; KM=1.23 mM for procainamide {ECO 0000269|PubMed 16330770, ECO 0000269|PubMed 17509534}; KM=0.07 mM for topotecan {ECO 0000269|PubMed 16330770, ECO 0000269|PubMed 17509534}; KM=0.47 mM for estrone sulfate {ECO 0000269|PubMed 16330770, ECO 0000269|PubMed 17509534}; KM=2.64 mM for acyclovir {ECO 0000269|PubMed 16330770, ECO 0000269|PubMed 17509534}; KM=5.12 mM for ganciclovir {ECO 0000269|PubMed 16330770, ECO 0000269|PubMed 17509534}; Vmax=1.185 nmol/min/mg enzyme toward TEA {ECO 0000269|PubMed 16330770, ECO 0000269|PubMed 17509534}; Vmax=0.735 nmol/min/mg enzyme toward MPP {ECO 0000269|PubMed 16330770, ECO 0000269|PubMed 17509534}; Vmax=0.135 nmol/min/mg enzyme toward cimetidine {ECO 0000269|PubMed 16330770, ECO 0000269|PubMed 17509534}; Vmax=2.23 nmol/min/mg enzyme toward metformin {ECO 0000269|PubMed 16330770, ECO 0000269|PubMed 17509534}; Vmax=0.89 nmol/min/mg enzyme toward guanidine {ECO 0000269|PubMed 16330770, ECO 0000269|PubMed 17509534}; Vmax=3.78 nmol/min/mg enzyme toward procainamide {ECO 0000269|PubMed 16330770, ECO 0000269|PubMed 17509534}; Vmax=0.21 nmol/min/mg enzyme toward topotecan {ECO 0000269|PubMed 16330770, ECO 0000269|PubMed 17509534}; Vmax=0.265 nmol/min/mg enzyme toward estrone sulfate {ECO 0000269|PubMed 16330770, ECO 0000269|PubMed 17509534}; Vmax=0.62 nmol/min/mg enzyme toward acyclovir {ECO 0000269|PubMed 16330770, ECO 0000269|PubMed 17509534}; Vmax=1.08 nmol/min/mg enzyme toward ganciclovir {ECO 0000269|PubMed 16330770, ECO 0000269|PubMed 17509534}; pH dependence Optimum pH is 8.5. Active from pH 6 to 8.5. {ECO 0000269|PubMed 16330770, ECO 0000269|PubMed 17509534}; # BioGrid 120535 27 # CCDS CCDS11209 -. [Q96FL8-1] # ChiTaRS SLC47A1 human # DrugBank DB00199 Erythromycin # DrugBank DB00331 Metformin # DrugBank DB00501 Cimetidine # DrugBank DB00567 Cephalexin # DrugBank DB00787 Aciclovir # DrugBank DB00877 Sirolimus # DrugBank DB01237 Bromodiphenhydramine # Ensembl ENST00000270570 ENSP00000270570; ENSG00000142494. [Q96FL8-1] # Ensembl ENST00000395585 ENSP00000378951; ENSG00000142494. [Q96FL8-3] # ExpressionAtlas Q96FL8 baseline and differential # FUNCTION S47A1_HUMAN Solute transporter for tetraethylammonium (TEA), 1- methyl-4-phenylpyridinium (MPP), cimetidine, N-methylnicotinamide (NMN), metformin, creatinine, guanidine, procainamide, topotecan, estrone sulfate, acyclovir, ganciclovir and also the zwitterionic cephalosporin, cephalexin and cephradin. Seems to also play a role in the uptake of oxaliplatin (a new platinum anticancer agent). Able to transport paraquat (PQ or N,N-dimethyl-4-4'-bipiridinium); a widely used herbicid. Responsible for the secretion of cationic drugs across the brush border membranes. {ECO 0000269|PubMed 16330770, ECO 0000269|PubMed 16996621, ECO 0000269|PubMed 17495125, ECO 0000269|PubMed 17509534, ECO 0000269|PubMed 17582384}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0031988 membrane-bounded vesicle; IBA:GO_Central. # GO_function GO:0015238 drug transmembrane transporter activity; IBA:GO_Central. # GO_function S47A1_HUMAN GO 0005451 monovalent cation proton antiporter activity; IBA GO_Central. # GO_function S47A1_HUMAN GO 0015307 drug proton antiporter activity; TAS Reactome. # GO_process GO:0006855 drug transmembrane transport; IBA:GO_Central. # GO_process GO:0015695 organic cation transport; IBA:GO_Central. # GO_process GO:0055085 transmembrane transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0055085 transmembrane transport # Genevisible Q96FL8 HS # HGNC HGNC:25588 SLC47A1 # InterPro IPR002528 MATE_fam # KEGG_Brite ko02001 Solute carrier family # MIM 609832 gene # Organism S47A1_HUMAN Homo sapiens (Human) # Pfam PF01554 MatE; 2 # Proteomes UP000005640 Chromosome 17 # Reactome R-HSA-425366 Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds # RecName S47A1_HUMAN Multidrug and toxin extrusion protein 1 # RefSeq NP_060712 NM_018242.2. [Q96FL8-1] # SEQUENCE CAUTION Sequence=AAH50592.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the multi antimicrobial extrusion (MATE) (TC 2.A.66.1) family. {ECO 0000305}. # SUBCELLULAR LOCATION S47A1_HUMAN Cell membrane {ECO 0000269|PubMed 16330770, ECO 0000269|PubMed 16641166}; Multi-pass membrane protein {ECO 0000269|PubMed 16330770, ECO 0000269|PubMed 16641166}. Note=Predominantly localized at the plasma membrane but also found in intracellular organelles. # TCDB 2.A.66.1.14 the multidrug/oligosaccharidyl-lipid/polysaccharide (mop) flippase superfamily # TIGRFAMs TIGR00797 matE # TISSUE SPECIFICITY S47A1_HUMAN Expressed in adrenal gland, and to a lower extent in liver, skeletal muscle and kidney (especially found in luminal membranes of the urinary tubules, bile caniculi and brush border membranes). {ECO 0000269|PubMed 16330770, ECO 0000269|PubMed 17509534}. # UCSC uc002gvx human. [Q96FL8-1] # eggNOG COG0534 LUCA # eggNOG KOG1347 Eukaryota BLAST swissprot:S47A1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S47A1_HUMAN BioCyc ZFISH:ENSG00000142494-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000142494-MONOMER COG COG0534 http://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=COG0534 COXPRESdb 55244 http://coxpresdb.jp/data/gene/55244.shtml CleanEx HS_SLC47A1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC47A1 DOI 10.1016/j.bcp.2007.03.004 http://dx.doi.org/10.1016/j.bcp.2007.03.004 DOI 10.1016/j.bcp.2007.04.010 http://dx.doi.org/10.1016/j.bcp.2007.04.010 DOI 10.1016/j.tips.2006.09.001 http://dx.doi.org/10.1016/j.tips.2006.09.001 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.0506483102 http://dx.doi.org/10.1073/pnas.0506483102 DOI 10.1073/pnas.1210303109 http://dx.doi.org/10.1073/pnas.1210303109 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1124/jpet.107.123554 http://dx.doi.org/10.1124/jpet.107.123554 DOI 10.1152/ajpcell.00090.2006 http://dx.doi.org/10.1152/ajpcell.00090.2006 DrugBank DB00199 http://www.drugbank.ca/drugs/DB00199 DrugBank DB00331 http://www.drugbank.ca/drugs/DB00331 DrugBank DB00501 http://www.drugbank.ca/drugs/DB00501 DrugBank DB00567 http://www.drugbank.ca/drugs/DB00567 DrugBank DB00787 http://www.drugbank.ca/drugs/DB00787 DrugBank DB00877 http://www.drugbank.ca/drugs/DB00877 DrugBank DB01237 http://www.drugbank.ca/drugs/DB01237 EMBL AK001709 http://www.ebi.ac.uk/ena/data/view/AK001709 EMBL AK222625 http://www.ebi.ac.uk/ena/data/view/AK222625 EMBL BC010661 http://www.ebi.ac.uk/ena/data/view/BC010661 EMBL BC050592 http://www.ebi.ac.uk/ena/data/view/BC050592 EMBL BC058882 http://www.ebi.ac.uk/ena/data/view/BC058882 EMBL CH471212 http://www.ebi.ac.uk/ena/data/view/CH471212 EMBL CH471212 http://www.ebi.ac.uk/ena/data/view/CH471212 Ensembl ENST00000270570 http://www.ensembl.org/id/ENST00000270570 Ensembl ENST00000395585 http://www.ensembl.org/id/ENST00000395585 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0031988 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031988 GO_function GO:0005451 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005451 GO_function GO:0015238 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015238 GO_function GO:0015307 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015307 GO_process GO:0006855 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006855 GO_process GO:0015695 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015695 GO_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC47A1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC47A1 GeneID 55244 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=55244 GeneTree ENSGT00390000015713 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000015713 H-InvDB HIX0013619 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0013619 HGNC HGNC:25588 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:25588 HOGENOM HOG000060313 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000060313&db=HOGENOM6 HOVERGEN HBG056043 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG056043&db=HOVERGEN HPA HPA021987 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA021987 InParanoid Q96FL8 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q96FL8 InterPro IPR002528 http://www.ebi.ac.uk/interpro/entry/IPR002528 Jabion 55244 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=55244 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:55244 http://www.genome.jp/dbget-bin/www_bget?hsa:55244 KEGG_Orthology KO:K03327 http://www.genome.jp/dbget-bin/www_bget?KO:K03327 MIM 609832 http://www.ncbi.nlm.nih.gov/omim/609832 OMA IMRTVIM http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=IMRTVIM OrthoDB EOG091G06X2 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G06X2 PSORT swissprot:S47A1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S47A1_HUMAN PSORT-B swissprot:S47A1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S47A1_HUMAN PSORT2 swissprot:S47A1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S47A1_HUMAN Pfam PF01554 http://pfam.xfam.org/family/PF01554 PharmGKB PA162403808 http://www.pharmgkb.org/do/serve?objId=PA162403808&objCls=Gene Phobius swissprot:S47A1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S47A1_HUMAN PhylomeDB Q96FL8 http://phylomedb.org/?seqid=Q96FL8 ProteinModelPortal Q96FL8 http://www.proteinmodelportal.org/query/uniprot/Q96FL8 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16330770 http://www.ncbi.nlm.nih.gov/pubmed/16330770 PubMed 16641166 http://www.ncbi.nlm.nih.gov/pubmed/16641166 PubMed 16996621 http://www.ncbi.nlm.nih.gov/pubmed/16996621 PubMed 17495125 http://www.ncbi.nlm.nih.gov/pubmed/17495125 PubMed 17509534 http://www.ncbi.nlm.nih.gov/pubmed/17509534 PubMed 17582384 http://www.ncbi.nlm.nih.gov/pubmed/17582384 PubMed 22814378 http://www.ncbi.nlm.nih.gov/pubmed/22814378 Reactome R-HSA-425366 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-425366 RefSeq NP_060712 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_060712 STRING 9606.ENSP00000270570 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000270570&targetmode=cogs STRING COG0534 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=COG0534&targetmode=cogs TCDB 2.A.66.1.14 http://www.tcdb.org/search/result.php?tc=2.A.66.1.14 TIGRFAMs TIGR00797 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00797 UCSC uc002gvx http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002gvx&org=rat UniGene Hs.232054 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.232054 UniProtKB S47A1_HUMAN http://www.uniprot.org/uniprot/S47A1_HUMAN UniProtKB-AC Q96FL8 http://www.uniprot.org/uniprot/Q96FL8 charge swissprot:S47A1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S47A1_HUMAN eggNOG COG0534 http://eggnogapi.embl.de/nog_data/html/tree/COG0534 eggNOG KOG1347 http://eggnogapi.embl.de/nog_data/html/tree/KOG1347 epestfind swissprot:S47A1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S47A1_HUMAN garnier swissprot:S47A1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S47A1_HUMAN helixturnhelix swissprot:S47A1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S47A1_HUMAN hmoment swissprot:S47A1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S47A1_HUMAN iep swissprot:S47A1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S47A1_HUMAN inforesidue swissprot:S47A1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S47A1_HUMAN neXtProt NX_Q96FL8 http://www.nextprot.org/db/entry/NX_Q96FL8 octanol swissprot:S47A1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S47A1_HUMAN pepcoil swissprot:S47A1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S47A1_HUMAN pepdigest swissprot:S47A1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S47A1_HUMAN pepinfo swissprot:S47A1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S47A1_HUMAN pepnet swissprot:S47A1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S47A1_HUMAN pepstats swissprot:S47A1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S47A1_HUMAN pepwheel swissprot:S47A1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S47A1_HUMAN pepwindow swissprot:S47A1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S47A1_HUMAN sigcleave swissprot:S47A1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S47A1_HUMAN ## Database ID URL or Descriptions # AltName VATC1_HUMAN Vacuolar proton pump subunit C 1 # BioGrid 107011 61 # CDD cd14785 V-ATPase_C # ChiTaRS ATP6V1C1 human # Ensembl ENST00000395862 ENSP00000379203; ENSG00000155097 # Ensembl ENST00000518738 ENSP00000430282; ENSG00000155097 # ExpressionAtlas P21283 baseline and differential # FUNCTION VATC1_HUMAN Subunit of the peripheral V1 complex of vacuolar ATPase. Subunit C is necessary for the assembly of the catalytic sector of the enzyme and is likely to have a specific function in its catalytic activity. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. # GO_component GO:0000221 vacuolar proton-transporting V-type ATPase, V1 domain; IBA:GO_Central. # GO_component GO:0005765 lysosomal membrane; IDA:UniProtKB. # GO_component GO:0005829 cytosol; TAS:Reactome. # GO_component GO:0005886 plasma membrane; ISS:UniProtKB. # GO_component GO:0016469 proton-transporting two-sector ATPase complex; TAS:ProtInc. # GO_component GO:0031410 cytoplasmic vesicle; IEA:Ensembl. # GO_component GO:0045177 apical part of cell; IEA:Ensembl. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0005215 transporter activity; NAS:ProtInc. # GO_function GO:0008553 hydrogen-exporting ATPase activity, phosphorylative mechanism; IBA:GO_Central. # GO_function GO:0046961 proton-transporting ATPase activity, rotational mechanism; TAS:ProtInc. # GO_process GO:0008286 insulin receptor signaling pathway; TAS:Reactome. # GO_process GO:0015991 ATP hydrolysis coupled proton transport; IEA:InterPro. # GO_process GO:0015992 proton transport; TAS:ProtInc. # GO_process GO:0016241 regulation of macroautophagy; NAS:ParkinsonsUK-UCL. # GO_process GO:0033572 transferrin transport; TAS:Reactome. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0090383 phagosome acidification; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005829 cytosol # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0031410 cytoplasmic vesicle # GOslim_component GO:0043226 organelle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Genevisible P21283 HS # HGNC HGNC:856 ATP6V1C1 # INTERACTION VATC1_HUMAN P62330 ARF6; NbExp=4; IntAct=EBI-988663, EBI-638181; # IntAct P21283 6 # InterPro IPR004907 ATPase_V1-cplx_csu # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Brite ko01000 Enzymes # KEGG_Pathway ko00190 Oxidative phosphorylation # KEGG_Pathway ko04145 Phagosome # KEGG_Pathway ko04721 Synaptic vesicle cycle # KEGG_Pathway ko04966 Collecting duct acid secretion # KEGG_Pathway ko05110 Vibrio cholerae infection # KEGG_Pathway ko05120 Epithelial cell signaling in Helicobacter pylori infection # KEGG_Pathway ko05323 Rheumatoid arthritis # MIM 603097 gene # Organism VATC1_HUMAN Homo sapiens (Human) # PANTHER PTHR10137 PTHR10137 # PIR JN0907 JN0907 # Pfam PF03223 V-ATPase_C # Proteomes UP000005640 Chromosome 8 # Reactome R-HSA-1222556 ROS, RNS production in response to bacteria # Reactome R-HSA-77387 Insulin receptor recycling # Reactome R-HSA-917977 Transferrin endocytosis and recycling # Reactome R-HSA-983712 Ion channel transport # RecName VATC1_HUMAN V-type proton ATPase subunit C 1 # RefSeq NP_001686 NM_001695.4 # SIMILARITY Belongs to the V-ATPase C subunit family. {ECO 0000305}. # SUBUNIT V-ATPase is a heteromultimeric enzyme composed of a peripheral catalytic V1 complex (components A to H) attached to an integral membrane V0 proton pore complex (components a, c, c', c'' and d). # SUPFAM SSF118203 SSF118203 # TCDB 3.A.2.2 the h(+)- or na(+)-translocating f-type, v-type and a-type atpase (f-atpase) superfamily # TISSUE SPECIFICITY Ubiquitous. {ECO:0000269|PubMed 12384298}. # UCSC uc003ykz human # eggNOG COG5127 LUCA # eggNOG KOG2909 Eukaryota BLAST swissprot:VATC1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:VATC1_HUMAN BioCyc MetaCyc:HS08030-MONOMER http://biocyc.org/getid?id=MetaCyc:HS08030-MONOMER BioCyc ZFISH:HS08030-MONOMER http://biocyc.org/getid?id=ZFISH:HS08030-MONOMER COXPRESdb 528 http://coxpresdb.jp/data/gene/528.shtml CleanEx HS_ATP6V1C1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ATP6V1C1 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1006/bbrc.1993.2434 http://dx.doi.org/10.1006/bbrc.1993.2434 DOI 10.1016/S0378-1119(02)00884-3 http://dx.doi.org/10.1016/S0378-1119(02)00884-3 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1073/pnas.241525498 http://dx.doi.org/10.1073/pnas.241525498 DOI 10.1074/mcp.M111.015131 http://dx.doi.org/10.1074/mcp.M111.015131 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AF363578 http://www.ebi.ac.uk/ena/data/view/AF363578 EMBL BC010960 http://www.ebi.ac.uk/ena/data/view/BC010960 EMBL J05682 http://www.ebi.ac.uk/ena/data/view/J05682 EMBL X69151 http://www.ebi.ac.uk/ena/data/view/X69151 Ensembl ENST00000395862 http://www.ensembl.org/id/ENST00000395862 Ensembl ENST00000518738 http://www.ensembl.org/id/ENST00000518738 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000221 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000221 GO_component GO:0005765 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005765 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016469 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016469 GO_component GO:0031410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410 GO_component GO:0045177 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045177 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0005215 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005215 GO_function GO:0008553 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008553 GO_function GO:0046961 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046961 GO_process GO:0008286 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008286 GO_process GO:0015991 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015991 GO_process GO:0015992 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015992 GO_process GO:0016241 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016241 GO_process GO:0033572 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033572 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0090383 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090383 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0031410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards ATP6V1C1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ATP6V1C1 GeneID 528 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=528 GeneTree ENSGT00390000004263 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000004263 HGNC HGNC:856 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:856 HOGENOM HOG000207528 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000207528&db=HOGENOM6 HOVERGEN HBG002470 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG002470&db=HOVERGEN HPA HPA023943 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA023943 HPA HPA057297 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA057297 InParanoid P21283 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P21283 IntAct P21283 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P21283* InterPro IPR004907 http://www.ebi.ac.uk/interpro/entry/IPR004907 Jabion 528 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=528 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00002 http://www.genome.jp/dbget-bin/www_bget?ko00002 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Gene hsa:528 http://www.genome.jp/dbget-bin/www_bget?hsa:528 KEGG_Orthology KO:K02148 http://www.genome.jp/dbget-bin/www_bget?KO:K02148 KEGG_Pathway ko00190 http://www.genome.jp/kegg-bin/show_pathway?ko00190 KEGG_Pathway ko04145 http://www.genome.jp/kegg-bin/show_pathway?ko04145 KEGG_Pathway ko04721 http://www.genome.jp/kegg-bin/show_pathway?ko04721 KEGG_Pathway ko04966 http://www.genome.jp/kegg-bin/show_pathway?ko04966 KEGG_Pathway ko05110 http://www.genome.jp/kegg-bin/show_pathway?ko05110 KEGG_Pathway ko05120 http://www.genome.jp/kegg-bin/show_pathway?ko05120 KEGG_Pathway ko05323 http://www.genome.jp/kegg-bin/show_pathway?ko05323 MIM 603097 http://www.ncbi.nlm.nih.gov/omim/603097 OMA TARENKF http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=TARENKF OrthoDB EOG091G03CP http://cegg.unige.ch/orthodb/results?searchtext=EOG091G03CP PANTHER PTHR10137 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10137 PSORT swissprot:VATC1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:VATC1_HUMAN PSORT-B swissprot:VATC1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:VATC1_HUMAN PSORT2 swissprot:VATC1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:VATC1_HUMAN Pfam PF03223 http://pfam.xfam.org/family/PF03223 PharmGKB PA25156 http://www.pharmgkb.org/do/serve?objId=PA25156&objCls=Gene Phobius swissprot:VATC1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:VATC1_HUMAN PhylomeDB P21283 http://phylomedb.org/?seqid=P21283 ProteinModelPortal P21283 http://www.proteinmodelportal.org/query/uniprot/P21283 PubMed 11707601 http://www.ncbi.nlm.nih.gov/pubmed/11707601 PubMed 12384298 http://www.ncbi.nlm.nih.gov/pubmed/12384298 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 2147024 http://www.ncbi.nlm.nih.gov/pubmed/2147024 PubMed 22223895 http://www.ncbi.nlm.nih.gov/pubmed/22223895 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 8250920 http://www.ncbi.nlm.nih.gov/pubmed/8250920 Reactome R-HSA-1222556 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1222556 Reactome R-HSA-77387 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-77387 Reactome R-HSA-917977 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-917977 Reactome R-HSA-983712 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-983712 RefSeq NP_001686 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001686 SMR P21283 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P21283 STRING 9606.ENSP00000379203 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000379203&targetmode=cogs SUPFAM SSF118203 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF118203 TCDB 3.A.2.2 http://www.tcdb.org/search/result.php?tc=3.A.2.2 UCSC uc003ykz http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003ykz&org=rat UniGene Hs.86905 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.86905 UniProtKB VATC1_HUMAN http://www.uniprot.org/uniprot/VATC1_HUMAN UniProtKB-AC P21283 http://www.uniprot.org/uniprot/P21283 charge swissprot:VATC1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:VATC1_HUMAN eggNOG COG5127 http://eggnogapi.embl.de/nog_data/html/tree/COG5127 eggNOG KOG2909 http://eggnogapi.embl.de/nog_data/html/tree/KOG2909 epestfind swissprot:VATC1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:VATC1_HUMAN garnier swissprot:VATC1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:VATC1_HUMAN helixturnhelix swissprot:VATC1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:VATC1_HUMAN hmoment swissprot:VATC1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:VATC1_HUMAN iep swissprot:VATC1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:VATC1_HUMAN inforesidue swissprot:VATC1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:VATC1_HUMAN neXtProt NX_P21283 http://www.nextprot.org/db/entry/NX_P21283 octanol swissprot:VATC1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:VATC1_HUMAN pepcoil swissprot:VATC1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:VATC1_HUMAN pepdigest swissprot:VATC1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:VATC1_HUMAN pepinfo swissprot:VATC1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:VATC1_HUMAN pepnet swissprot:VATC1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:VATC1_HUMAN pepstats swissprot:VATC1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:VATC1_HUMAN pepwheel swissprot:VATC1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:VATC1_HUMAN pepwindow swissprot:VATC1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:VATC1_HUMAN sigcleave swissprot:VATC1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:VATC1_HUMAN ## Database ID URL or Descriptions # AltName CYB_HUMAN Complex III subunit 3 # AltName CYB_HUMAN Complex III subunit III # AltName CYB_HUMAN Cytochrome b-c1 complex subunit 3 # AltName CYB_HUMAN Ubiquinol-cytochrome-c reductase complex cytochrome b subunit # BioGrid 110619 10 # CAUTION The full-length protein contains only eight transmembrane helices, not nine as predicted by bioinformatics tools. {ECO:0000250|UniProtKB P00157}. # CDD cd00284 Cytochrome_b_N # COFACTOR CYB_HUMAN Name=heme; Xref=ChEBI CHEBI 30413; Evidence={ECO 0000250|UniProtKB P00157}; Note=Binds 2 heme groups non-covalently. {ECO 0000250|UniProtKB P00157}; # DISEASE CYB_HUMAN Cardiomyopathy, infantile histiocytoid (CMIH) [MIM 500000] A heart disease characterized by the presence of pale granular foamy histiocyte-like cells within the myocardium. It usually affects children younger than 2 years of age, with a clear predominance of females over males. Infants present with dysrhythmia or cardiac arrest. The clinical course is usually fulminant, sometimes simulating sudden infant death syndrome. {ECO 0000269|PubMed 10960495}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE CYB_HUMAN Leber hereditary optic neuropathy (LHON) [MIM 535000] A maternally inherited disease resulting in acute or subacute loss of central vision, due to optic nerve dysfunction. Cardiac conduction defects and neurological defects have also been described in some patients. LHON results from primary mitochondrial DNA mutations affecting the respiratory chain complexes. {ECO 0000269|PubMed 1732158}. Note=The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry. # DISEASE CYB_HUMAN Note=Defects in MT-CYB are a rare cause of mitochondrial dysfunction underlying different myopathies. They include mitochondrial encephalomyopathy, hypertrophic cardiomyopathy (HCM), and sporadic mitochondrial myopathy (MM). In mitochondrial myopathy, exercise intolerance is the predominant symptom. Additional features include lactic acidosis, muscle weakness and/or myoglobinuria. Defects in MTCYB are also found in cases of exercise intolerance accompanied by deafness, mental retardation, retinitis pigmentosa, cataract, growth retardation, epilepsy (multisystem disorder). {ECO 0000269|PubMed 11047755, ECO 0000269|PubMed 11601507}. # Ensembl ENST00000361789 ENSP00000354554; ENSG00000198727 # ExpressionAtlas P00156 baseline and differential # FUNCTION CYB_HUMAN Component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex) that is part of the mitochondrial respiratory chain. The b-c1 complex mediates electron transfer from ubiquinol to cytochrome c. Contributes to the generation of a proton gradient across the mitochondrial membrane that is then used for ATP synthesis. {ECO 0000250|UniProtKB P00157}. # GO_component GO:0005739 mitochondrion; IDA:UniProtKB. # GO_component GO:0005743 mitochondrial inner membrane; TAS:Reactome. # GO_component GO:0005750 mitochondrial respiratory chain complex III; NAS:UniProtKB. # GO_function GO:0008121 ubiquinol-cytochrome-c reductase activity; NAS:UniProtKB. # GO_function GO:0009055 electron carrier activity; IEA:Ensembl. # GO_function GO:0046872 metal ion binding; IEA:UniProtKB-KW. # GO_process GO:0001666 response to hypoxia; IEA:Ensembl. # GO_process GO:0006122 mitochondrial electron transport, ubiquinol to cytochrome c; NAS:UniProtKB. # GO_process GO:0009408 response to heat; IEA:Ensembl. # GO_process GO:0009636 response to toxic substance; IEA:Ensembl. # GO_process GO:0031100 animal organ regeneration; IEA:Ensembl. # GO_process GO:0033590 response to cobalamin; IEA:Ensembl. # GO_process GO:0033762 response to glucagon; IEA:Ensembl. # GO_process GO:0042493 response to drug; IEA:Ensembl. # GO_process GO:0042538 hyperosmotic salinity response; IEA:Ensembl. # GO_process GO:0045471 response to ethanol; IEA:Ensembl. # GO_process GO:0046686 response to cadmium ion; IEA:Ensembl. # GO_process GO:0046688 response to copper ion; IEA:Ensembl. # GO_process GO:0046689 response to mercury ion; IEA:Ensembl. # GO_process GO:0051592 response to calcium ion; IEA:Ensembl. # GO_process GO:0055093 response to hyperoxia; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005739 mitochondrion # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0016491 oxidoreductase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006091 generation of precursor metabolites and energy # GOslim_process GO:0006950 response to stress # GOslim_process GO:0008150 biological_process # GOslim_process GO:0048856 anatomical structure development # Gene3D 1.20.810.10 -; 1. # HGNC HGNC:7427 MT-CYB # IntAct P00156 3 # InterPro IPR005797 Cyt_b/b6_N # InterPro IPR005798 Cyt_b/b6_C # InterPro IPR016174 Di-haem_cyt_TM # InterPro IPR027387 Cytb/b6-like # InterPro IPR030689 Cytochrome_b # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Disease H00068 [Neurodegenerative disease] Leber hereditary optic atrophy (LHON) # KEGG_Disease H00473 [Inherited metabolic disease; Mitochondrial disease] GRACILE Syndrome # KEGG_Disease H01355 [Inherited metabolic disease; Mitochondrial disease] Kearns-Sayre Syndrome # KEGG_Pathway ko00190 Oxidative phosphorylation # KEGG_Pathway ko00910 Nitrogen metabolism # KEGG_Pathway ko02020 Two-component system # KEGG_Pathway ko04260 Cardiac muscle contraction # KEGG_Pathway ko05010 Alzheimer's disease # KEGG_Pathway ko05012 Parkinson's disease # KEGG_Pathway ko05016 Huntington's disease # MIM 500000 phenotype # MIM 516020 gene # MIM 535000 phenotype # MISCELLANEOUS Heme 1 (or BL or b562) is low-potential and absorbs at about 562 nm, and heme 2 (or BH or b566) is high-potential and absorbs at about 566 nm. {ECO 0000250}. # Organism CYB_HUMAN Homo sapiens (Human) # Orphanet 104 Leber hereditary optic neuropathy # Orphanet 137675 Histiocytoid cardiomyopathy # Orphanet 1460 Isolated CoQ-cytochrome C reductase deficiency # PIR A00151 CBHU # PIRSF PIRSF038885 COB # PROSITE PS51002 CYTB_NTER # PROSITE PS51003 CYTB_CTER # Pfam PF00032 Cytochrom_B_C # Pfam PF00033 Cytochrome_B # Proteomes UP000005640 Mitochondrion # Reactome R-HSA-611105 Respiratory electron transport # RecName CYB_HUMAN Cytochrome b # RefSeq YP_003024038 NC_012920.1 # SIMILARITY CYB_HUMAN Belongs to the cytochrome b family. {ECO 0000255|PROSITE-ProRule PRU00967, ECO 0000255|PROSITE- ProRule PRU00968}. # SUBCELLULAR LOCATION CYB_HUMAN Mitochondrion inner membrane {ECO 0000250|UniProtKB P00157}; Multi-pass membrane protein {ECO 0000250|UniProtKB P00157}. # SUBUNIT The cytochrome bc1 complex contains 11 subunits: 3 respiratory subunits (MT-CYB, CYC1 and UQCRFS1), 2 core proteins (UQCRC1 and UQCRC2) and 6 low-molecular weight proteins (UQCRH/QCR6, UQCRB/QCR7, UQCRQ/QCR8, UQCR10/QCR9, UQCR11/QCR10 and a cleavage product of UQCRFS1). This cytochrome bc1 complex then forms a dimer. {ECO 0000250|UniProtKB:P00157}. # SUPFAM SSF81342 SSF81342 # SUPFAM SSF81648 SSF81648 # eggNOG COG1290 LUCA # eggNOG KOG4663 Eukaryota BLAST swissprot:CYB_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CYB_HUMAN BioCyc ZFISH:HS00029-MONOMER http://biocyc.org/getid?id=ZFISH:HS00029-MONOMER COG COG1290 http://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=COG1290 COXPRESdb 4519 http://coxpresdb.jp/data/gene/4519.shtml DOI 10.1002/ana.10151 http://dx.doi.org/10.1002/ana.10151 DOI 10.1002/ana.1224 http://dx.doi.org/10.1002/ana.1224 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1006/mcpr.1996.0053 http://dx.doi.org/10.1006/mcpr.1996.0053 DOI 10.1007/BF00206061 http://dx.doi.org/10.1007/BF00206061 DOI 10.1007/BF00711378 http://dx.doi.org/10.1007/BF00711378 DOI 10.1007/s00439-003-0983-8 http://dx.doi.org/10.1007/s00439-003-0983-8 DOI 10.1007/s004390050988 http://dx.doi.org/10.1007/s004390050988 DOI 10.1038/13779 http://dx.doi.org/10.1038/13779 DOI 10.1038/290457a0 http://dx.doi.org/10.1038/290457a0 DOI 10.1038/3108 http://dx.doi.org/10.1038/3108 DOI 10.1038/35047064 http://dx.doi.org/10.1038/35047064 DOI 10.1038/sj.ejhg.5200678 http://dx.doi.org/10.1038/sj.ejhg.5200678 DOI 10.1056/NEJM199909303411404 http://dx.doi.org/10.1056/NEJM199909303411404 DOI 10.1073/pnas.92.2.532 http://dx.doi.org/10.1073/pnas.92.2.532 DOI 10.1086/316900 http://dx.doi.org/10.1086/316900 DOI 10.1086/341358 http://dx.doi.org/10.1086/341358 DOI 10.1186/1471-2156-2-13 http://dx.doi.org/10.1186/1471-2156-2-13 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DOI 10.1203/00006450-200009000-00008 http://dx.doi.org/10.1203/00006450-200009000-00008 DOI 10.1212/WNL.51.5.1444 http://dx.doi.org/10.1212/WNL.51.5.1444 EMBL AF346963 http://www.ebi.ac.uk/ena/data/view/AF346963 EMBL AF346964 http://www.ebi.ac.uk/ena/data/view/AF346964 EMBL AF346965 http://www.ebi.ac.uk/ena/data/view/AF346965 EMBL AF346966 http://www.ebi.ac.uk/ena/data/view/AF346966 EMBL AF346967 http://www.ebi.ac.uk/ena/data/view/AF346967 EMBL AF346968 http://www.ebi.ac.uk/ena/data/view/AF346968 EMBL AF346969 http://www.ebi.ac.uk/ena/data/view/AF346969 EMBL AF346970 http://www.ebi.ac.uk/ena/data/view/AF346970 EMBL AF346971 http://www.ebi.ac.uk/ena/data/view/AF346971 EMBL AF346972 http://www.ebi.ac.uk/ena/data/view/AF346972 EMBL AF346973 http://www.ebi.ac.uk/ena/data/view/AF346973 EMBL AF346974 http://www.ebi.ac.uk/ena/data/view/AF346974 EMBL AF346975 http://www.ebi.ac.uk/ena/data/view/AF346975 EMBL AF346976 http://www.ebi.ac.uk/ena/data/view/AF346976 EMBL AF346977 http://www.ebi.ac.uk/ena/data/view/AF346977 EMBL AF346978 http://www.ebi.ac.uk/ena/data/view/AF346978 EMBL AF346979 http://www.ebi.ac.uk/ena/data/view/AF346979 EMBL AF346980 http://www.ebi.ac.uk/ena/data/view/AF346980 EMBL AF346981 http://www.ebi.ac.uk/ena/data/view/AF346981 EMBL AF346982 http://www.ebi.ac.uk/ena/data/view/AF346982 EMBL AF346983 http://www.ebi.ac.uk/ena/data/view/AF346983 EMBL AF346984 http://www.ebi.ac.uk/ena/data/view/AF346984 EMBL AF346985 http://www.ebi.ac.uk/ena/data/view/AF346985 EMBL AF346986 http://www.ebi.ac.uk/ena/data/view/AF346986 EMBL AF346987 http://www.ebi.ac.uk/ena/data/view/AF346987 EMBL AF346988 http://www.ebi.ac.uk/ena/data/view/AF346988 EMBL AF346989 http://www.ebi.ac.uk/ena/data/view/AF346989 EMBL AF346990 http://www.ebi.ac.uk/ena/data/view/AF346990 EMBL AF346991 http://www.ebi.ac.uk/ena/data/view/AF346991 EMBL AF346992 http://www.ebi.ac.uk/ena/data/view/AF346992 EMBL AF346993 http://www.ebi.ac.uk/ena/data/view/AF346993 EMBL AF346994 http://www.ebi.ac.uk/ena/data/view/AF346994 EMBL AF346995 http://www.ebi.ac.uk/ena/data/view/AF346995 EMBL AF346996 http://www.ebi.ac.uk/ena/data/view/AF346996 EMBL AF346997 http://www.ebi.ac.uk/ena/data/view/AF346997 EMBL AF346998 http://www.ebi.ac.uk/ena/data/view/AF346998 EMBL AF346999 http://www.ebi.ac.uk/ena/data/view/AF346999 EMBL AF347000 http://www.ebi.ac.uk/ena/data/view/AF347000 EMBL AF347001 http://www.ebi.ac.uk/ena/data/view/AF347001 EMBL AF347002 http://www.ebi.ac.uk/ena/data/view/AF347002 EMBL AF347003 http://www.ebi.ac.uk/ena/data/view/AF347003 EMBL AF347004 http://www.ebi.ac.uk/ena/data/view/AF347004 EMBL AF347005 http://www.ebi.ac.uk/ena/data/view/AF347005 EMBL AF347006 http://www.ebi.ac.uk/ena/data/view/AF347006 EMBL AF347007 http://www.ebi.ac.uk/ena/data/view/AF347007 EMBL AF347008 http://www.ebi.ac.uk/ena/data/view/AF347008 EMBL AF347009 http://www.ebi.ac.uk/ena/data/view/AF347009 EMBL AF347010 http://www.ebi.ac.uk/ena/data/view/AF347010 EMBL AF347011 http://www.ebi.ac.uk/ena/data/view/AF347011 EMBL AF347012 http://www.ebi.ac.uk/ena/data/view/AF347012 EMBL AF347013 http://www.ebi.ac.uk/ena/data/view/AF347013 EMBL AF347014 http://www.ebi.ac.uk/ena/data/view/AF347014 EMBL AF347015 http://www.ebi.ac.uk/ena/data/view/AF347015 EMBL AF381981 http://www.ebi.ac.uk/ena/data/view/AF381981 EMBL AF381982 http://www.ebi.ac.uk/ena/data/view/AF381982 EMBL AF381983 http://www.ebi.ac.uk/ena/data/view/AF381983 EMBL AF381984 http://www.ebi.ac.uk/ena/data/view/AF381984 EMBL AF381985 http://www.ebi.ac.uk/ena/data/view/AF381985 EMBL AF381986 http://www.ebi.ac.uk/ena/data/view/AF381986 EMBL AF381987 http://www.ebi.ac.uk/ena/data/view/AF381987 EMBL AF381988 http://www.ebi.ac.uk/ena/data/view/AF381988 EMBL AF381989 http://www.ebi.ac.uk/ena/data/view/AF381989 EMBL AF381990 http://www.ebi.ac.uk/ena/data/view/AF381990 EMBL AF381991 http://www.ebi.ac.uk/ena/data/view/AF381991 EMBL AF381992 http://www.ebi.ac.uk/ena/data/view/AF381992 EMBL AF381993 http://www.ebi.ac.uk/ena/data/view/AF381993 EMBL AF381994 http://www.ebi.ac.uk/ena/data/view/AF381994 EMBL AF381995 http://www.ebi.ac.uk/ena/data/view/AF381995 EMBL AF381996 http://www.ebi.ac.uk/ena/data/view/AF381996 EMBL AF381997 http://www.ebi.ac.uk/ena/data/view/AF381997 EMBL AF381998 http://www.ebi.ac.uk/ena/data/view/AF381998 EMBL AF381999 http://www.ebi.ac.uk/ena/data/view/AF381999 EMBL AF382000 http://www.ebi.ac.uk/ena/data/view/AF382000 EMBL AF382001 http://www.ebi.ac.uk/ena/data/view/AF382001 EMBL AF382002 http://www.ebi.ac.uk/ena/data/view/AF382002 EMBL AF382003 http://www.ebi.ac.uk/ena/data/view/AF382003 EMBL AF382004 http://www.ebi.ac.uk/ena/data/view/AF382004 EMBL AF382005 http://www.ebi.ac.uk/ena/data/view/AF382005 EMBL AF382006 http://www.ebi.ac.uk/ena/data/view/AF382006 EMBL AF382007 http://www.ebi.ac.uk/ena/data/view/AF382007 EMBL AF382008 http://www.ebi.ac.uk/ena/data/view/AF382008 EMBL AF382009 http://www.ebi.ac.uk/ena/data/view/AF382009 EMBL AF382010 http://www.ebi.ac.uk/ena/data/view/AF382010 EMBL AF382011 http://www.ebi.ac.uk/ena/data/view/AF382011 EMBL AF382012 http://www.ebi.ac.uk/ena/data/view/AF382012 EMBL AF382013 http://www.ebi.ac.uk/ena/data/view/AF382013 EMBL AF465942 http://www.ebi.ac.uk/ena/data/view/AF465942 EMBL AF465945 http://www.ebi.ac.uk/ena/data/view/AF465945 EMBL AF465946 http://www.ebi.ac.uk/ena/data/view/AF465946 EMBL AF465947 http://www.ebi.ac.uk/ena/data/view/AF465947 EMBL AF465948 http://www.ebi.ac.uk/ena/data/view/AF465948 EMBL AF465949 http://www.ebi.ac.uk/ena/data/view/AF465949 EMBL AF465953 http://www.ebi.ac.uk/ena/data/view/AF465953 EMBL AF465956 http://www.ebi.ac.uk/ena/data/view/AF465956 EMBL AF465968 http://www.ebi.ac.uk/ena/data/view/AF465968 EMBL AF465971 http://www.ebi.ac.uk/ena/data/view/AF465971 EMBL AF465972 http://www.ebi.ac.uk/ena/data/view/AF465972 EMBL AF465973 http://www.ebi.ac.uk/ena/data/view/AF465973 EMBL AF465974 http://www.ebi.ac.uk/ena/data/view/AF465974 EMBL AF465975 http://www.ebi.ac.uk/ena/data/view/AF465975 EMBL AF465977 http://www.ebi.ac.uk/ena/data/view/AF465977 EMBL D38112 http://www.ebi.ac.uk/ena/data/view/D38112 EMBL J01415 http://www.ebi.ac.uk/ena/data/view/J01415 EMBL M28016 http://www.ebi.ac.uk/ena/data/view/M28016 EMBL U09500 http://www.ebi.ac.uk/ena/data/view/U09500 EMBL V00662 http://www.ebi.ac.uk/ena/data/view/V00662 Ensembl ENST00000361789 http://www.ensembl.org/id/ENST00000361789 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0005750 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005750 GO_function GO:0008121 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008121 GO_function GO:0009055 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009055 GO_function GO:0046872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046872 GO_process GO:0001666 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001666 GO_process GO:0006122 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006122 GO_process GO:0009408 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009408 GO_process GO:0009636 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009636 GO_process GO:0031100 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031100 GO_process GO:0033590 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033590 GO_process GO:0033762 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033762 GO_process GO:0042493 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042493 GO_process GO:0042538 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042538 GO_process GO:0045471 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045471 GO_process GO:0046686 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046686 GO_process GO:0046688 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046688 GO_process GO:0046689 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046689 GO_process GO:0051592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051592 GO_process GO:0055093 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055093 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0016491 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016491 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006091 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 Gene3D 1.20.810.10 http://www.cathdb.info/version/latest/superfamily/1.20.810.10 GeneCards MT-CYB http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=MT-CYB GeneID 4519 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=4519 GeneTree ENSGT00390000017948 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000017948 HGNC HGNC:7427 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:7427 HOVERGEN HBG017694 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG017694&db=HOVERGEN HPA CAB032215 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB032215 HPA HPA068400 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA068400 InParanoid P00156 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P00156 IntAct P00156 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P00156* InterPro IPR005797 http://www.ebi.ac.uk/interpro/entry/IPR005797 InterPro IPR005798 http://www.ebi.ac.uk/interpro/entry/IPR005798 InterPro IPR016174 http://www.ebi.ac.uk/interpro/entry/IPR016174 InterPro IPR027387 http://www.ebi.ac.uk/interpro/entry/IPR027387 InterPro IPR030689 http://www.ebi.ac.uk/interpro/entry/IPR030689 Jabion 4519 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=4519 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00002 http://www.genome.jp/dbget-bin/www_bget?ko00002 KEGG_Disease H00068 http://www.genome.jp/dbget-bin/www_bget?H00068 KEGG_Disease H00473 http://www.genome.jp/dbget-bin/www_bget?H00473 KEGG_Disease H01355 http://www.genome.jp/dbget-bin/www_bget?H01355 KEGG_Gene hsa:4519 http://www.genome.jp/dbget-bin/www_bget?hsa:4519 KEGG_Orthology KO:K00412 http://www.genome.jp/dbget-bin/www_bget?KO:K00412 KEGG_Pathway ko00190 http://www.genome.jp/kegg-bin/show_pathway?ko00190 KEGG_Pathway ko00910 http://www.genome.jp/kegg-bin/show_pathway?ko00910 KEGG_Pathway ko02020 http://www.genome.jp/kegg-bin/show_pathway?ko02020 KEGG_Pathway ko04260 http://www.genome.jp/kegg-bin/show_pathway?ko04260 KEGG_Pathway ko05010 http://www.genome.jp/kegg-bin/show_pathway?ko05010 KEGG_Pathway ko05012 http://www.genome.jp/kegg-bin/show_pathway?ko05012 KEGG_Pathway ko05016 http://www.genome.jp/kegg-bin/show_pathway?ko05016 MIM 500000 http://www.ncbi.nlm.nih.gov/omim/500000 MIM 516020 http://www.ncbi.nlm.nih.gov/omim/516020 MIM 535000 http://www.ncbi.nlm.nih.gov/omim/535000 OMA FMDWVDA http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=FMDWVDA Orphanet 104 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=104 Orphanet 137675 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=137675 Orphanet 1460 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1460 OrthoDB EOG091G0DW4 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0DW4 PROSITE PS51002 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51002 PROSITE PS51003 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51003 PSORT swissprot:CYB_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CYB_HUMAN PSORT-B swissprot:CYB_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CYB_HUMAN PSORT2 swissprot:CYB_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CYB_HUMAN Pfam PF00032 http://pfam.xfam.org/family/PF00032 Pfam PF00033 http://pfam.xfam.org/family/PF00033 PharmGKB PA31234 http://www.pharmgkb.org/do/serve?objId=PA31234&objCls=Gene Phobius swissprot:CYB_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CYB_HUMAN PhylomeDB P00156 http://phylomedb.org/?seqid=P00156 ProteinModelPortal P00156 http://www.proteinmodelportal.org/query/uniprot/P00156 PubMed 10453733 http://www.ncbi.nlm.nih.gov/pubmed/10453733 PubMed 10502593 http://www.ncbi.nlm.nih.gov/pubmed/10502593 PubMed 10508508 http://www.ncbi.nlm.nih.gov/pubmed/10508508 PubMed 10960495 http://www.ncbi.nlm.nih.gov/pubmed/10960495 PubMed 11047755 http://www.ncbi.nlm.nih.gov/pubmed/11047755 PubMed 11130070 http://www.ncbi.nlm.nih.gov/pubmed/11130070 PubMed 11464242 http://www.ncbi.nlm.nih.gov/pubmed/11464242 PubMed 11553319 http://www.ncbi.nlm.nih.gov/pubmed/11553319 PubMed 11601507 http://www.ncbi.nlm.nih.gov/pubmed/11601507 PubMed 11891837 http://www.ncbi.nlm.nih.gov/pubmed/11891837 PubMed 12022039 http://www.ncbi.nlm.nih.gov/pubmed/12022039 PubMed 12905068 http://www.ncbi.nlm.nih.gov/pubmed/12905068 PubMed 1732158 http://www.ncbi.nlm.nih.gov/pubmed/1732158 PubMed 1757091 http://www.ncbi.nlm.nih.gov/pubmed/1757091 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 6100559 http://www.ncbi.nlm.nih.gov/pubmed/6100559 PubMed 7219534 http://www.ncbi.nlm.nih.gov/pubmed/7219534 PubMed 7530363 http://www.ncbi.nlm.nih.gov/pubmed/7530363 PubMed 7623448 http://www.ncbi.nlm.nih.gov/pubmed/7623448 PubMed 8910895 http://www.ncbi.nlm.nih.gov/pubmed/8910895 PubMed 9806551 http://www.ncbi.nlm.nih.gov/pubmed/9806551 PubMed 9818877 http://www.ncbi.nlm.nih.gov/pubmed/9818877 Reactome R-HSA-611105 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-611105 RefSeq YP_003024038 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=YP_003024038 SMR P00156 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P00156 STRING 9606.ENSP00000354554 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000354554&targetmode=cogs STRING COG1290 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=COG1290&targetmode=cogs SUPFAM SSF81342 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81342 SUPFAM SSF81648 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81648 UniProtKB CYB_HUMAN http://www.uniprot.org/uniprot/CYB_HUMAN UniProtKB-AC P00156 http://www.uniprot.org/uniprot/P00156 charge swissprot:CYB_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CYB_HUMAN eggNOG COG1290 http://eggnogapi.embl.de/nog_data/html/tree/COG1290 eggNOG KOG4663 http://eggnogapi.embl.de/nog_data/html/tree/KOG4663 epestfind swissprot:CYB_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CYB_HUMAN garnier swissprot:CYB_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CYB_HUMAN helixturnhelix swissprot:CYB_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CYB_HUMAN hmoment swissprot:CYB_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CYB_HUMAN iep swissprot:CYB_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CYB_HUMAN inforesidue swissprot:CYB_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CYB_HUMAN neXtProt NX_P00156 http://www.nextprot.org/db/entry/NX_P00156 octanol swissprot:CYB_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CYB_HUMAN pepcoil swissprot:CYB_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CYB_HUMAN pepdigest swissprot:CYB_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CYB_HUMAN pepinfo swissprot:CYB_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CYB_HUMAN pepnet swissprot:CYB_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CYB_HUMAN pepstats swissprot:CYB_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CYB_HUMAN pepwheel swissprot:CYB_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CYB_HUMAN pepwindow swissprot:CYB_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CYB_HUMAN sigcleave swissprot:CYB_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CYB_HUMAN ## Database ID URL or Descriptions # BioGrid 111805 38 # CAUTION It is uncertain whether Met-1 or Met-6 is the initiator. {ECO 0000305}. # ChiTaRS RAB4A human # Ensembl ENST00000366690 ENSP00000355651; ENSG00000168118 # ExpressionAtlas P20338 baseline and differential # FUNCTION RAB4A_HUMAN Protein transport. Probably involved in vesicular traffic (By similarity). {ECO 0000250}. # GO_component GO:0005768 endosome; IBA:GO_Central. # GO_component GO:0005829 cytosol; IEA:Ensembl. # GO_component GO:0005886 plasma membrane; IEA:Ensembl. # GO_component GO:0031982 vesicle; IDA:UniProtKB. # GO_component GO:0032593 insulin-responsive compartment; IBA:GO_Central. # GO_component GO:0048471 perinuclear region of cytoplasm; IDA:UniProtKB. # GO_component GO:0055037 recycling endosome; IEA:Ensembl. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0001671 ATPase activator activity; IEA:Ensembl. # GO_function GO:0003924 GTPase activity; IDA:UniProtKB. # GO_function GO:0005525 GTP binding; IDA:UniProtKB. # GO_function GO:0008565 protein transporter activity; IEA:Ensembl. # GO_function GO:0019003 GDP binding; IDA:UniProtKB. # GO_process GO:0019882 antigen processing and presentation; IMP:UniProtKB. # GO_process GO:0030100 regulation of endocytosis; IBA:GO_Central. # GO_process GO:0032482 Rab protein signal transduction; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005768 endosome # GOslim_component GO:0005829 cytosol # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0031410 cytoplasmic vesicle # GOslim_component GO:0043226 organelle # GOslim_function GO:0003924 GTPase activity # GOslim_function GO:0008565 protein transporter activity # GOslim_function GO:0030234 enzyme regulator activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0002376 immune system process # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # Gene3D 3.40.50.300 -; 1. # Genevisible P20338 HS # HGNC HGNC:9781 RAB4A # INTERACTION RAB4A_HUMAN Q8IW24 EXOC5; NbExp=3; IntAct=EBI-722284, EBI-10171392; P31150 GDI1; NbExp=3; IntAct=EBI-722284, EBI-946999; P50395 GDI2; NbExp=2; IntAct=EBI-722284, EBI-1049143; Q4V328 GRIPAP1; NbExp=3; IntAct=EBI-722284, EBI-717919; Q8N1B4 VPS52; NbExp=3; IntAct=EBI-722284, EBI-2799833; # IntAct P20338 21 # InterPro IPR001806 Small_GTPase # InterPro IPR005225 Small_GTP-bd_dom # InterPro IPR027417 P-loop_NTPase # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04031 GTP-binding proteins # KEGG_Pathway ko04144 Endocytosis # MIM 179511 gene # Organism RAB4A_HUMAN Homo sapiens (Human) # PDB 1YU9 X-ray; 2.07 A; A=7-177 # PDB 1Z0K X-ray; 1.92 A; A/C=7-177 # PDB 2BMD X-ray; 1.80 A; A=6-189 # PDB 2BME X-ray; 1.57 A; A/B/C/D=6-189 # PIR E34323 E34323 # PROSITE PS51419 RAB # PTM RAB4A_HUMAN Phosphorylated by CDK1 kinase during mitosis. {ECO 0000269|PubMed 1425574, ECO 0000269|PubMed 1902553}. # Pfam PF00071 Ras # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-1445148 Translocation of GLUT4 to the plasma membrane # Reactome R-HSA-1660499 Synthesis of PIPs at the plasma membrane # Reactome R-HSA-8875656 MET receptor recycling # RecName RAB4A_HUMAN Ras-related protein Rab-4A # RefSeq NP_001258927 NM_001271998.1 # RefSeq NP_004569 NM_004578.3 # SEQUENCE CAUTION Sequence=AAA60244.1; Type=Frameshift; Positions=6; Evidence={ECO 0000305}; # SIMILARITY Belongs to the small GTPase superfamily. Rab family. {ECO 0000305}. # SUBCELLULAR LOCATION RAB4A_HUMAN Membrane; Peripheral membrane protein. Cytoplasm. Note=Generally associated with membranes. Cytoplasmic when phosphorylated by CDK1. # SUBUNIT RAB4A_HUMAN Interacts with SGSM1, SGSM2 and SGSM3 (By similarity). Interacts with RAB11FIP1, RABEP1, ZFYVE20 and RUFY1. Interacts (membrane-bound form) with NDRG1; the interaction involves NDRG1 in vesicular recycling of E-cadherin. Does not interact with HPS4 (By similarity). {ECO 0000250|UniProtKB P56371, ECO 0000269|PubMed 10698684, ECO 0000269|PubMed 11786538, ECO 0000269|PubMed 11788822, ECO 0000269|PubMed 14617813, ECO 0000269|PubMed 15280022, ECO 0000269|PubMed 15907487, ECO 0000269|PubMed 16034420, ECO 0000269|PubMed 17786215}. # SUPFAM SSF52540 SSF52540 # TIGRFAMs TIGR00231 small_GTP # UCSC uc001hth human # eggNOG ENOG410XQ9X LUCA # eggNOG KOG0086 Eukaryota BLAST swissprot:RAB4A_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:RAB4A_HUMAN COXPRESdb 5867 http://coxpresdb.jp/data/gene/5867.shtml CleanEx HS_RAB4A http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_RAB4A DIP DIP-372N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-372N DOI 10.1016/j.febslet.2004.06.068 http://dx.doi.org/10.1016/j.febslet.2004.06.068 DOI 10.1016/j.febslet.2005.04.020 http://dx.doi.org/10.1016/j.febslet.2005.04.020 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/350715a0 http://dx.doi.org/10.1038/350715a0 DOI 10.1038/nature03798 http://dx.doi.org/10.1038/nature03798 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1038/ncb744 http://dx.doi.org/10.1038/ncb744 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1042/bj3460593 http://dx.doi.org/10.1042/bj3460593 DOI 10.1074/jbc.M108665200 http://dx.doi.org/10.1074/jbc.M108665200 DOI 10.1074/jbc.M606301200 http://dx.doi.org/10.1074/jbc.M606301200 DOI 10.1091/mbc.E03-05-0343 http://dx.doi.org/10.1091/mbc.E03-05-0343 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DOI 10.1371/journal.pone.0000844 http://dx.doi.org/10.1371/journal.pone.0000844 EMBL AF498934 http://www.ebi.ac.uk/ena/data/view/AF498934 EMBL AK313807 http://www.ebi.ac.uk/ena/data/view/AK313807 EMBL AL117350 http://www.ebi.ac.uk/ena/data/view/AL117350 EMBL AL117350 http://www.ebi.ac.uk/ena/data/view/AL117350 EMBL AL162595 http://www.ebi.ac.uk/ena/data/view/AL162595 EMBL AL162595 http://www.ebi.ac.uk/ena/data/view/AL162595 EMBL AY585832 http://www.ebi.ac.uk/ena/data/view/AY585832 EMBL BC002438 http://www.ebi.ac.uk/ena/data/view/BC002438 EMBL BC004309 http://www.ebi.ac.uk/ena/data/view/BC004309 EMBL CH471098 http://www.ebi.ac.uk/ena/data/view/CH471098 EMBL M28211 http://www.ebi.ac.uk/ena/data/view/M28211 Ensembl ENST00000366690 http://www.ensembl.org/id/ENST00000366690 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0031982 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031982 GO_component GO:0032593 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032593 GO_component GO:0048471 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048471 GO_component GO:0055037 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055037 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0001671 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001671 GO_function GO:0003924 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003924 GO_function GO:0005525 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005525 GO_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GO_function GO:0019003 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019003 GO_process GO:0019882 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019882 GO_process GO:0030100 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030100 GO_process GO:0032482 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032482 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0031410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003924 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003924 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_function GO:0030234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030234 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0002376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002376 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 Gene3D 3.40.50.300 http://www.cathdb.info/version/latest/superfamily/3.40.50.300 GeneCards RAB4A http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=RAB4A GeneID 5867 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=5867 GeneTree ENSGT00760000118841 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118841 HGNC HGNC:9781 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:9781 HOVERGEN HBG009351 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG009351&db=HOVERGEN HPA CAB004990 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB004990 InParanoid P20338 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P20338 IntAct P20338 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P20338* InterPro IPR001806 http://www.ebi.ac.uk/interpro/entry/IPR001806 InterPro IPR005225 http://www.ebi.ac.uk/interpro/entry/IPR005225 InterPro IPR027417 http://www.ebi.ac.uk/interpro/entry/IPR027417 Jabion 5867 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=5867 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04031 http://www.genome.jp/dbget-bin/www_bget?ko04031 KEGG_Gene hsa:5867 http://www.genome.jp/dbget-bin/www_bget?hsa:5867 KEGG_Orthology KO:K07879 http://www.genome.jp/dbget-bin/www_bget?KO:K07879 KEGG_Pathway ko04144 http://www.genome.jp/kegg-bin/show_pathway?ko04144 MIM 179511 http://www.ncbi.nlm.nih.gov/omim/179511 MINT MINT-1376149 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1376149 OMA MVKLQIW http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=MVKLQIW OrthoDB EOG091G0QOB http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0QOB PDB 1YU9 http://www.ebi.ac.uk/pdbe-srv/view/entry/1YU9 PDB 1Z0K http://www.ebi.ac.uk/pdbe-srv/view/entry/1Z0K PDB 2BMD http://www.ebi.ac.uk/pdbe-srv/view/entry/2BMD PDB 2BME http://www.ebi.ac.uk/pdbe-srv/view/entry/2BME PDBsum 1YU9 http://www.ebi.ac.uk/pdbsum/1YU9 PDBsum 1Z0K http://www.ebi.ac.uk/pdbsum/1Z0K PDBsum 2BMD http://www.ebi.ac.uk/pdbsum/2BMD PDBsum 2BME http://www.ebi.ac.uk/pdbsum/2BME PROSITE PS51419 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51419 PSORT swissprot:RAB4A_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:RAB4A_HUMAN PSORT-B swissprot:RAB4A_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:RAB4A_HUMAN PSORT2 swissprot:RAB4A_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:RAB4A_HUMAN Pfam PF00071 http://pfam.xfam.org/family/PF00071 PharmGKB PA34141 http://www.pharmgkb.org/do/serve?objId=PA34141&objCls=Gene Phobius swissprot:RAB4A_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:RAB4A_HUMAN PhylomeDB P20338 http://phylomedb.org/?seqid=P20338 ProteinModelPortal P20338 http://www.proteinmodelportal.org/query/uniprot/P20338 PubMed 10698684 http://www.ncbi.nlm.nih.gov/pubmed/10698684 PubMed 11786538 http://www.ncbi.nlm.nih.gov/pubmed/11786538 PubMed 11788822 http://www.ncbi.nlm.nih.gov/pubmed/11788822 PubMed 1425574 http://www.ncbi.nlm.nih.gov/pubmed/1425574 PubMed 14617813 http://www.ncbi.nlm.nih.gov/pubmed/14617813 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15280022 http://www.ncbi.nlm.nih.gov/pubmed/15280022 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15907487 http://www.ncbi.nlm.nih.gov/pubmed/15907487 PubMed 16034420 http://www.ncbi.nlm.nih.gov/pubmed/16034420 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 16935861 http://www.ncbi.nlm.nih.gov/pubmed/16935861 PubMed 17786215 http://www.ncbi.nlm.nih.gov/pubmed/17786215 PubMed 1902553 http://www.ncbi.nlm.nih.gov/pubmed/1902553 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 2501306 http://www.ncbi.nlm.nih.gov/pubmed/2501306 Reactome R-HSA-1445148 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1445148 Reactome R-HSA-1660499 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1660499 Reactome R-HSA-8875656 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-8875656 RefSeq NP_001258927 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001258927 RefSeq NP_004569 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004569 SMR P20338 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P20338 STRING 9606.ENSP00000355651 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000355651&targetmode=cogs SUPFAM SSF52540 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52540 TIGRFAMs TIGR00231 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00231 UCSC uc001hth http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001hth&org=rat UniGene Hs.296169 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.296169 UniProtKB RAB4A_HUMAN http://www.uniprot.org/uniprot/RAB4A_HUMAN UniProtKB-AC P20338 http://www.uniprot.org/uniprot/P20338 charge swissprot:RAB4A_HUMAN http://rest.g-language.org/emboss/charge/swissprot:RAB4A_HUMAN eggNOG ENOG410XQ9X http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XQ9X eggNOG KOG0086 http://eggnogapi.embl.de/nog_data/html/tree/KOG0086 epestfind swissprot:RAB4A_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:RAB4A_HUMAN garnier swissprot:RAB4A_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:RAB4A_HUMAN helixturnhelix swissprot:RAB4A_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:RAB4A_HUMAN hmoment swissprot:RAB4A_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:RAB4A_HUMAN iep swissprot:RAB4A_HUMAN http://rest.g-language.org/emboss/iep/swissprot:RAB4A_HUMAN inforesidue swissprot:RAB4A_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:RAB4A_HUMAN neXtProt NX_P20338 http://www.nextprot.org/db/entry/NX_P20338 octanol swissprot:RAB4A_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:RAB4A_HUMAN pepcoil swissprot:RAB4A_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:RAB4A_HUMAN pepdigest swissprot:RAB4A_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:RAB4A_HUMAN pepinfo swissprot:RAB4A_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:RAB4A_HUMAN pepnet swissprot:RAB4A_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:RAB4A_HUMAN pepstats swissprot:RAB4A_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:RAB4A_HUMAN pepwheel swissprot:RAB4A_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:RAB4A_HUMAN pepwindow swissprot:RAB4A_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:RAB4A_HUMAN sigcleave swissprot:RAB4A_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:RAB4A_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=COX15.1; IsoId=Q7KZN9-1; Sequence=Displayed; Name=2; Synonyms=COX15.2; IsoId=Q7KZN9-2; Sequence=VSP_011281; Note=Ref.1 (AAD08646) sequence is in conflict in position: 374 F->L. {ECO:0000305}; # BioGrid 107747 13 # CCDS CCDS7481 -. [Q7KZN9-2] # CCDS CCDS7482 -. [Q7KZN9-1] # ChiTaRS COX15 human # DISEASE COX15_HUMAN Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 (CEMCOX2) [MIM 615119] An infantile disorder, with a rapidly progressive fatal course, characterized by cytochrome c oxidase deficiency. Clinical features include microcephaly, encephalopathy, hypertrophic cardiomyopathy, persistent lactic acidosis, respiratory distress, hypotonia and seizures. Postmortem cardiac muscle studies show marked complex IV deficiency. Complex IV activity is only slightly decreased in the skeletal muscle. {ECO 0000269|PubMed 12474143, ECO 0000269|PubMed 21412973}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE COX15_HUMAN Leigh syndrome (LS) [MIM 256000] An early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia. {ECO 0000269|PubMed 15235026, ECO 0000269|PubMed 15863660}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000016171 ENSP00000016171; ENSG00000014919. [Q7KZN9-1] # Ensembl ENST00000370483 ENSP00000359514; ENSG00000014919. [Q7KZN9-2] # FUNCTION COX15_HUMAN May be involved in the biosynthesis of heme A. {ECO 0000269|PubMed 12474143}. # GO_component GO:0005739 mitochondrion; IDA:BHF-UCL. # GO_component GO:0005743 mitochondrial inner membrane; TAS:Reactome. # GO_component GO:0005746 mitochondrial respiratory chain; TAS:UniProtKB. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0070069 cytochrome complex; IDA:BHF-UCL. # GO_function GO:0004129 cytochrome-c oxidase activity; TAS:UniProtKB. # GO_function GO:0016627 oxidoreductase activity, acting on the CH-CH group of donors; TAS:Reactome. # GO_function GO:0016653 oxidoreductase activity, acting on NAD(P)H, heme protein as acceptor; IBA:GO_Central. # GO_process GO:0006123 mitochondrial electron transport, cytochrome c to oxygen; IC:HGNC. # GO_process GO:0006783 heme biosynthetic process; TAS:Reactome. # GO_process GO:0006784 heme a biosynthetic process; IGI:HGNC. # GO_process GO:0007585 respiratory gaseous exchange; TAS:UniProtKB. # GO_process GO:0008535 respiratory chain complex IV assembly; IMP:HGNC. # GO_process GO:0045333 cellular respiration; IC:HGNC. # GO_process GO:0055114 oxidation-reduction process; TAS:UniProtKB. # GO_process GO:1902600 hydrogen ion transmembrane transport; IMP:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005739 mitochondrion # GOslim_component GO:0043234 protein complex # GOslim_function GO:0016491 oxidoreductase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006091 generation of precursor metabolites and energy # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0008150 biological_process # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0051186 cofactor metabolic process # GOslim_process GO:0055085 transmembrane transport # Genevisible Q7KZN9 HS # HAMAP MF_01665 HemeA_synth_type2 # HGNC HGNC:2263 COX15 # IntAct Q7KZN9 12 # InterPro IPR003780 COX15/CtaA_fam # InterPro IPR009003 Peptidase_S1_PA # InterPro IPR023754 HemeA_Synthase_type2 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Disease H01200 [Inherited metabolic disease] Fatal infantile cardioencephalomyopathy # KEGG_Disease H01354 [Inherited metabolic disease; Neurodegenerative disease; Mitochondrial disease] X-linked Leigh syndrome # KEGG_Disease H01368:[Inherited metabolic disease; Mitochondrial disease] Leber Hereditary Optic Neuropathy (LHON) [DS H00068] # KEGG_Pathway ko00190 Oxidative phosphorylation # KEGG_Pathway ko00860 Porphyrin and chlorophyll metabolism # KEGG_Pathway ko02020 Two-component system # MIM 256000 phenotype # MIM 603646 gene # MIM 615119 phenotype # Organism COX15_HUMAN Homo sapiens (Human) # Orphanet 1561 Fatal infantile cytochrome C oxidase deficiency # Orphanet 70474 Leigh syndrome with cardiomyopathy # PATHWAY Porphyrin-containing compound metabolism; heme A biosynthesis; heme A from heme O step 1/1. # Pfam PF02628 COX15-CtaA # Proteomes UP000005640 Chromosome 10 # Reactome R-HSA-189451 Heme biosynthesis # RecName COX15_HUMAN Cytochrome c oxidase assembly protein COX15 homolog # RefSeq NP_001307903 NM_001320974.1 # RefSeq NP_001307904 NM_001320975.1 # RefSeq NP_001307905 NM_001320976.1 # RefSeq NP_004367 NM_004376.6. [Q7KZN9-2] # RefSeq NP_510870 NM_078470.5. [Q7KZN9-1] # SIMILARITY Belongs to the COX15/CtaA family. {ECO 0000305}. # SUBCELLULAR LOCATION COX15_HUMAN Mitochondrion membrane {ECO 0000269|PubMed 9878253}; Multi-pass membrane protein {ECO 0000269|PubMed 9878253}. # SUPFAM SSF50494 SSF50494 # TISSUE SPECIFICITY Predominantly found in tissues characterized by high rates of oxidative phosphorylation (OxPhos), including muscle, heart, and brain. {ECO:0000269|PubMed 9878253}. # TopDownProteomics Q7KZN9-1 -. [Q7KZN9-1] # UCSC uc001kqb human. [Q7KZN9-1] # UniPathway UPA00269 UER00713 # eggNOG COG1612 LUCA # eggNOG KOG2725 Eukaryota BLAST swissprot:COX15_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:COX15_HUMAN COG COG1612 http://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=COG1612 COXPRESdb 1355 http://coxpresdb.jp/data/gene/1355.shtml CleanEx HS_COX15 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_COX15 DOI 10.1002/ajmg.a.33881 http://dx.doi.org/10.1002/ajmg.a.33881 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1006/geno.1998.5580 http://dx.doi.org/10.1006/geno.1998.5580 DOI 10.1038/nature02462 http://dx.doi.org/10.1038/nature02462 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1086/345489 http://dx.doi.org/10.1086/345489 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1136/jmg.2003.017426 http://dx.doi.org/10.1136/jmg.2003.017426 DOI 10.1136/jmg.2004.029926 http://dx.doi.org/10.1136/jmg.2004.029926 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AF026850 http://www.ebi.ac.uk/ena/data/view/AF026850 EMBL AF044323 http://www.ebi.ac.uk/ena/data/view/AF044323 EMBL AK291654 http://www.ebi.ac.uk/ena/data/view/AK291654 EMBL AL133353 http://www.ebi.ac.uk/ena/data/view/AL133353 EMBL AL133353 http://www.ebi.ac.uk/ena/data/view/AL133353 EMBL BC002382 http://www.ebi.ac.uk/ena/data/view/BC002382 EMBL BC013403 http://www.ebi.ac.uk/ena/data/view/BC013403 EMBL BC078161 http://www.ebi.ac.uk/ena/data/view/BC078161 EMBL BT007129 http://www.ebi.ac.uk/ena/data/view/BT007129 EMBL BX537557 http://www.ebi.ac.uk/ena/data/view/BX537557 EMBL CH471066 http://www.ebi.ac.uk/ena/data/view/CH471066 Ensembl ENST00000016171 http://www.ensembl.org/id/ENST00000016171 Ensembl ENST00000370483 http://www.ensembl.org/id/ENST00000370483 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0005746 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005746 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0070069 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070069 GO_function GO:0004129 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004129 GO_function GO:0016627 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016627 GO_function GO:0016653 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016653 GO_process GO:0006123 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006123 GO_process GO:0006783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006783 GO_process GO:0006784 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006784 GO_process GO:0007585 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007585 GO_process GO:0008535 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008535 GO_process GO:0045333 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045333 GO_process GO:0055114 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055114 GO_process GO:1902600 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902600 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0016491 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016491 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006091 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0051186 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051186 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards COX15 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=COX15 GeneID 1355 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=1355 GeneTree ENSGT00390000002223 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000002223 HAMAP MF_01665 http://hamap.expasy.org/unirule/MF_01665 HGNC HGNC:2263 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:2263 HOVERGEN HBG051086 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG051086&db=HOVERGEN HPA HPA037727 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA037727 HPA HPA037728 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA037728 HPA HPA066096 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA066096 InParanoid Q7KZN9 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q7KZN9 IntAct Q7KZN9 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q7KZN9* InterPro IPR003780 http://www.ebi.ac.uk/interpro/entry/IPR003780 InterPro IPR009003 http://www.ebi.ac.uk/interpro/entry/IPR009003 InterPro IPR023754 http://www.ebi.ac.uk/interpro/entry/IPR023754 Jabion 1355 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=1355 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00002 http://www.genome.jp/dbget-bin/www_bget?ko00002 KEGG_Disease H01200 http://www.genome.jp/dbget-bin/www_bget?H01200 KEGG_Disease H01354 http://www.genome.jp/dbget-bin/www_bget?H01354 KEGG_Disease H01368 http://www.genome.jp/dbget-bin/www_bget?H01368 KEGG_Gene hsa:1355 http://www.genome.jp/dbget-bin/www_bget?hsa:1355 KEGG_Orthology KO:K02259 http://www.genome.jp/dbget-bin/www_bget?KO:K02259 KEGG_Pathway ko00190 http://www.genome.jp/kegg-bin/show_pathway?ko00190 KEGG_Pathway ko00860 http://www.genome.jp/kegg-bin/show_pathway?ko00860 KEGG_Pathway ko02020 http://www.genome.jp/kegg-bin/show_pathway?ko02020 KEGG_Reaction rn:R07412 http://www.genome.jp/dbget-bin/www_bget?rn:R07412 MIM 256000 http://www.ncbi.nlm.nih.gov/omim/256000 MIM 603646 http://www.ncbi.nlm.nih.gov/omim/603646 MIM 615119 http://www.ncbi.nlm.nih.gov/omim/615119 OMA TALIYIV http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=TALIYIV Orphanet 1561 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1561 Orphanet 70474 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=70474 OrthoDB EOG091G08NN http://cegg.unige.ch/orthodb/results?searchtext=EOG091G08NN PSORT swissprot:COX15_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:COX15_HUMAN PSORT-B swissprot:COX15_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:COX15_HUMAN PSORT2 swissprot:COX15_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:COX15_HUMAN Pfam PF02628 http://pfam.xfam.org/family/PF02628 PharmGKB PA26779 http://www.pharmgkb.org/do/serve?objId=PA26779&objCls=Gene Phobius swissprot:COX15_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:COX15_HUMAN PhylomeDB Q7KZN9 http://phylomedb.org/?seqid=Q7KZN9 ProteinModelPortal Q7KZN9 http://www.proteinmodelportal.org/query/uniprot/Q7KZN9 PubMed 12474143 http://www.ncbi.nlm.nih.gov/pubmed/12474143 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15164054 http://www.ncbi.nlm.nih.gov/pubmed/15164054 PubMed 15235026 http://www.ncbi.nlm.nih.gov/pubmed/15235026 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15863660 http://www.ncbi.nlm.nih.gov/pubmed/15863660 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 21412973 http://www.ncbi.nlm.nih.gov/pubmed/21412973 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 9878253 http://www.ncbi.nlm.nih.gov/pubmed/9878253 Reactome R-HSA-189451 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-189451 RefSeq NP_001307903 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001307903 RefSeq NP_001307904 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001307904 RefSeq NP_001307905 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001307905 RefSeq NP_004367 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004367 RefSeq NP_510870 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_510870 STRING 9606.ENSP00000016171 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000016171&targetmode=cogs STRING COG1612 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=COG1612&targetmode=cogs SUPFAM SSF50494 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF50494 UCSC uc001kqb http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001kqb&org=rat UniGene Hs.28326 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.28326 UniProtKB COX15_HUMAN http://www.uniprot.org/uniprot/COX15_HUMAN UniProtKB-AC Q7KZN9 http://www.uniprot.org/uniprot/Q7KZN9 charge swissprot:COX15_HUMAN http://rest.g-language.org/emboss/charge/swissprot:COX15_HUMAN eggNOG COG1612 http://eggnogapi.embl.de/nog_data/html/tree/COG1612 eggNOG KOG2725 http://eggnogapi.embl.de/nog_data/html/tree/KOG2725 epestfind swissprot:COX15_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:COX15_HUMAN garnier swissprot:COX15_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:COX15_HUMAN helixturnhelix swissprot:COX15_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:COX15_HUMAN hmoment swissprot:COX15_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:COX15_HUMAN iep swissprot:COX15_HUMAN http://rest.g-language.org/emboss/iep/swissprot:COX15_HUMAN inforesidue swissprot:COX15_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:COX15_HUMAN neXtProt NX_Q7KZN9 http://www.nextprot.org/db/entry/NX_Q7KZN9 octanol swissprot:COX15_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:COX15_HUMAN pepcoil swissprot:COX15_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:COX15_HUMAN pepdigest swissprot:COX15_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:COX15_HUMAN pepinfo swissprot:COX15_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:COX15_HUMAN pepnet swissprot:COX15_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:COX15_HUMAN pepstats swissprot:COX15_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:COX15_HUMAN pepwheel swissprot:COX15_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:COX15_HUMAN pepwindow swissprot:COX15_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:COX15_HUMAN sigcleave swissprot:COX15_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:COX15_HUMAN ## Database ID URL or Descriptions # AltName NTCP2_HUMAN Apical sodium-dependent bile acid transporter # AltName NTCP2_HUMAN Ileal Na(+)/bile acid cotransporter # AltName NTCP2_HUMAN Ileal sodium-dependent bile acid transporter # AltName NTCP2_HUMAN Na(+)-dependent ileal bile acid transporter # AltName NTCP2_HUMAN Sodium/taurocholate cotransporting polypeptide, ileal # AltName NTCP2_HUMAN Solute carrier family 10 member 2 # DISEASE NTCP2_HUMAN Primary bile acid malabsorption (PBAM) [MIM 613291] An intestinal disorder associated with chronic watery diarrhea, excess fecal bile acids, steatorrhea and interruption of the enterohepatic circulation of bile acids. {ECO 0000269|PubMed 9109432}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DrugBank DB00091 Cyclosporine # DrugBank DB00577 Valaciclovir # DrugBank DB00787 Aciclovir # DrugBank DB01586 Ursodeoxycholic acid # DrugBank DB02659 Cholic Acid # DrugBank DB03619 Deoxycholic Acid # Ensembl ENST00000245312 ENSP00000245312; ENSG00000125255 # FUNCTION NTCP2_HUMAN Plays a critical role in the sodium-dependent reabsorption of bile acids from the lumen of the small intestine. Plays a key role in cholesterol metabolism. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0005902 microvillus; IEA:Ensembl. # GO_component GO:0016324 apical plasma membrane; IEA:Ensembl. # GO_function NTCP2_HUMAN GO 0008508 bile acid sodium symporter activity; TAS Reactome. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0015721 bile acid and bile salt transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # Genevisible Q12908 HS # HGNC HGNC:10906 SLC10A2 # InterPro IPR002657:BilAc Na_symport/Acr3 # InterPro IPR004710:Bilac Na_transpt # InterPro IPR030207 SLC10A2 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02001 Solute carrier family # KEGG_Disease H01016 [Gastrointestinal disease] Primary bile acid malabsorption # KEGG_Pathway ko04976 Bile secretion # MIM 601295 gene # MIM 613291 phenotype # Organism NTCP2_HUMAN Homo sapiens (Human) # PANTHER PTHR10361 PTHR10361 # PANTHER PTHR10361:SF19 PTHR10361:SF19 # PIR I38655 I38655 # Pfam PF01758 SBF # Proteomes UP000005640 Chromosome 13 # Reactome R-HSA-159418 Recycling of bile acids and salts # RecName NTCP2_HUMAN Ileal sodium/bile acid cotransporter # RefSeq NP_000443 NM_000452.2 # SIMILARITY Belongs to the bile acid:sodium symporter (BASS) (TC 2.A.28) family. {ECO 0000305}. # SUBCELLULAR LOCATION NTCP2_HUMAN Membrane; Multi-pass membrane protein. # SUBUNIT NTCP2_HUMAN Monomer and homodimer. # TCDB 2.A.28.1:the bile acid na(+) symporter (bass) family # TIGRFAMs TIGR00841 bass # UCSC uc001vpy human # eggNOG COG0385 LUCA # eggNOG KOG2718 Eukaryota BLAST swissprot:NTCP2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:NTCP2_HUMAN BioCyc ZFISH:ENSG00000125255-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000125255-MONOMER COXPRESdb 6555 http://coxpresdb.jp/data/gene/6555.shtml CleanEx HS_SLC10A2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC10A2 DOI 10.1021/bi049270a http://dx.doi.org/10.1021/bi049270a DOI 10.1038/nature02379 http://dx.doi.org/10.1038/nature02379 DOI 10.1073/pnas.182412499 http://dx.doi.org/10.1073/pnas.182412499 DOI 10.1074/jbc.270.45.27228 http://dx.doi.org/10.1074/jbc.270.45.27228 DOI 10.1080/003655201750422693 http://dx.doi.org/10.1080/003655201750422693 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1161/hq1201.100262 http://dx.doi.org/10.1161/hq1201.100262 DOI 10.1172/JCI119355 http://dx.doi.org/10.1172/JCI119355 DrugBank DB00091 http://www.drugbank.ca/drugs/DB00091 DrugBank DB00577 http://www.drugbank.ca/drugs/DB00577 DrugBank DB00787 http://www.drugbank.ca/drugs/DB00787 DrugBank DB01586 http://www.drugbank.ca/drugs/DB01586 DrugBank DB02659 http://www.drugbank.ca/drugs/DB02659 DrugBank DB03619 http://www.drugbank.ca/drugs/DB03619 EMBL AE014294 http://www.ebi.ac.uk/ena/data/view/AE014294 EMBL AL161771 http://www.ebi.ac.uk/ena/data/view/AL161771 EMBL BC130521 http://www.ebi.ac.uk/ena/data/view/BC130521 EMBL BC130523 http://www.ebi.ac.uk/ena/data/view/BC130523 EMBL CH471085 http://www.ebi.ac.uk/ena/data/view/CH471085 EMBL U10417 http://www.ebi.ac.uk/ena/data/view/U10417 EMBL U67669 http://www.ebi.ac.uk/ena/data/view/U67669 EMBL U67670 http://www.ebi.ac.uk/ena/data/view/U67670 EMBL U67671 http://www.ebi.ac.uk/ena/data/view/U67671 EMBL U67672 http://www.ebi.ac.uk/ena/data/view/U67672 EMBL U67673 http://www.ebi.ac.uk/ena/data/view/U67673 EMBL U67674 http://www.ebi.ac.uk/ena/data/view/U67674 EMBL Z54350 http://www.ebi.ac.uk/ena/data/view/Z54350 Ensembl ENST00000245312 http://www.ensembl.org/id/ENST00000245312 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0005902 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005902 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_function GO:0008508 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008508 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0015721 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015721 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GeneCards SLC10A2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC10A2 GeneID 6555 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6555 GeneTree ENSGT00550000074505 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074505 HGNC HGNC:10906 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10906 HOGENOM HOG000234524 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000234524&db=HOGENOM6 HOVERGEN HBG006537 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG006537&db=HOVERGEN HPA HPA004795 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA004795 InParanoid Q12908 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q12908 InterPro IPR002657 http://www.ebi.ac.uk/interpro/entry/IPR002657 InterPro IPR004710 http://www.ebi.ac.uk/interpro/entry/IPR004710 InterPro IPR030207 http://www.ebi.ac.uk/interpro/entry/IPR030207 Jabion 6555 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6555 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Disease H01016 http://www.genome.jp/dbget-bin/www_bget?H01016 KEGG_Gene hsa:6555 http://www.genome.jp/dbget-bin/www_bget?hsa:6555 KEGG_Orthology KO:K14342 http://www.genome.jp/dbget-bin/www_bget?KO:K14342 KEGG_Pathway ko04976 http://www.genome.jp/kegg-bin/show_pathway?ko04976 MIM 601295 http://www.ncbi.nlm.nih.gov/omim/601295 MIM 613291 http://www.ncbi.nlm.nih.gov/omim/613291 OMA NSCVDNA http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=NSCVDNA OrthoDB EOG091G0GT5 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0GT5 PANTHER PTHR10361 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10361 PANTHER PTHR10361:SF19 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10361:SF19 PSORT swissprot:NTCP2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:NTCP2_HUMAN PSORT-B swissprot:NTCP2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:NTCP2_HUMAN PSORT2 swissprot:NTCP2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:NTCP2_HUMAN Pfam PF01758 http://pfam.xfam.org/family/PF01758 PharmGKB PA318 http://www.pharmgkb.org/do/serve?objId=PA318&objCls=Gene Phobius swissprot:NTCP2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:NTCP2_HUMAN PhylomeDB Q12908 http://phylomedb.org/?seqid=Q12908 ProteinModelPortal Q12908 http://www.proteinmodelportal.org/query/uniprot/Q12908 PubMed 11589382 http://www.ncbi.nlm.nih.gov/pubmed/11589382 PubMed 11742882 http://www.ncbi.nlm.nih.gov/pubmed/11742882 PubMed 12364586 http://www.ncbi.nlm.nih.gov/pubmed/12364586 PubMed 15057823 http://www.ncbi.nlm.nih.gov/pubmed/15057823 PubMed 15350125 http://www.ncbi.nlm.nih.gov/pubmed/15350125 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 7592981 http://www.ncbi.nlm.nih.gov/pubmed/7592981 PubMed 9109432 http://www.ncbi.nlm.nih.gov/pubmed/9109432 Reactome R-HSA-159418 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-159418 RefSeq NP_000443 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000443 STRING 9606.ENSP00000245312 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000245312&targetmode=cogs TCDB 2.A.28.1 http://www.tcdb.org/search/result.php?tc=2.A.28.1 TIGRFAMs TIGR00841 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00841 UCSC uc001vpy http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001vpy&org=rat UniGene Hs.194783 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.194783 UniProtKB NTCP2_HUMAN http://www.uniprot.org/uniprot/NTCP2_HUMAN UniProtKB-AC Q12908 http://www.uniprot.org/uniprot/Q12908 charge swissprot:NTCP2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:NTCP2_HUMAN eggNOG COG0385 http://eggnogapi.embl.de/nog_data/html/tree/COG0385 eggNOG KOG2718 http://eggnogapi.embl.de/nog_data/html/tree/KOG2718 epestfind swissprot:NTCP2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:NTCP2_HUMAN garnier swissprot:NTCP2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:NTCP2_HUMAN helixturnhelix swissprot:NTCP2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:NTCP2_HUMAN hmoment swissprot:NTCP2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:NTCP2_HUMAN iep swissprot:NTCP2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:NTCP2_HUMAN inforesidue swissprot:NTCP2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:NTCP2_HUMAN neXtProt NX_Q12908 http://www.nextprot.org/db/entry/NX_Q12908 octanol swissprot:NTCP2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:NTCP2_HUMAN pepcoil swissprot:NTCP2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:NTCP2_HUMAN pepdigest swissprot:NTCP2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:NTCP2_HUMAN pepinfo swissprot:NTCP2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:NTCP2_HUMAN pepnet swissprot:NTCP2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:NTCP2_HUMAN pepstats swissprot:NTCP2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:NTCP2_HUMAN pepwheel swissprot:NTCP2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:NTCP2_HUMAN pepwindow swissprot:NTCP2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:NTCP2_HUMAN sigcleave swissprot:NTCP2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:NTCP2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS MAGT1_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9H0U3-1; Sequence=Displayed; Name=2; IsoId=Q9H0U3-2; Sequence=VSP_056556, VSP_056557; Note=No experimental confirmation available.; # AltName MAGT1_HUMAN Implantation-associated protein # BioGrid 123856 34 # CAUTION MAGT1_HUMAN Although MAGT1 has been reported to be involved in mental retardation (PubMed 18455129), its pathological role is questionable (PubMed 23871722). {ECO 0000305|PubMed 18455129, ECO 0000305|PubMed 23871722}. # ChiTaRS MAGT1 human # DISEASE MAGT1_HUMAN Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia (XMEN) [MIM 300853] A disease characterized by CD4 lymphopenia, severe chronic viral infections, and defective T-lymphocyte activation. {ECO 0000269|PubMed 21796205}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000373336 ENSP00000362433; ENSG00000102158. [Q9H0U3-2] # Ensembl ENST00000618282 ENSP00000480732; ENSG00000102158. [Q9H0U3-1] # ExpressionAtlas Q9H0U3 baseline and differential # FUNCTION MAGT1_HUMAN May be involved in N-glycosylation through its association with N-oligosaccharyl transferase. May be involved in Mg(2+) transport in epithelial cells. {ECO 0000269|PubMed 15804357, ECO 0000269|PubMed 19717468}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; NAS:UniProtKB. # GO_component GO:0008250 oligosaccharyltransferase complex; IDA:HGNC. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_function GO:0015095 magnesium ion transmembrane transporter activity; IMP:UniProtKB. # GO_process GO:0006487 protein N-linked glycosylation; NAS:UniProtKB. # GO_process GO:0015693 magnesium ion transport; IMP:UniProtKB. # GO_process GO:0018279 protein N-linked glycosylation via asparagine; IBA:GO_Central. # GO_process GO:0050890 cognition; IMP:UniProtKB. # GO_process GO:0055085 transmembrane transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006464 cellular protein modification process # GOslim_process GO:0006810 transport # GOslim_process GO:0050877 neurological system process # GOslim_process GO:0055085 transmembrane transport # Gene3D 3.40.30.10 -; 1. # Genevisible Q9H0U3 HS # HGNC HGNC:28880 MAGT1 # INDUCTION Up-regulated by low extracellular Mg(2+). {ECO:0000269|PubMed 19717468}. # IntAct Q9H0U3 15 # InterPro IPR006844 Mg_transporter-1 # InterPro IPR012336 Thioredoxin-like_fold # InterPro IPR021149 OligosaccharylTrfase_OST3/OST6 # KEGG_Disease H00480 [Congenital disorder; Mental retardation] Non-syndromic X-linked mental retardation # MIM 300715 gene # MIM 300853 phenotype # Organism MAGT1_HUMAN Homo sapiens (Human) # Orphanet 317476 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia # Orphanet 777 X-linked non-syndromic intellectual disability # PANTHER PTHR12692:SF2 PTHR12692:SF2 # Pfam PF04756 OST3_OST6 # Proteomes UP000005640 Chromosome X # Reactome R-HSA-446203 Asparagine N-linked glycosylation # Reactome R-HSA-5223345 Miscellaneous transport and binding events # Reactome R-HSA-6798695 Neutrophil degranulation # RecName MAGT1_HUMAN Magnesium transporter protein 1 # RefSeq NP_115497 NM_032121.5 # SIMILARITY Belongs to the OST3/OST6 family. {ECO 0000305}. # SIMILARITY Contains 1 thioredoxin domain. {ECO 0000305}. # SUBCELLULAR LOCATION MAGT1_HUMAN Cell membrane {ECO 0000269|PubMed 19717468}; Multi-pass membrane protein {ECO 0000269|PubMed 19717468}. Endoplasmic reticulum membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. # SUBUNIT Weakly associates with the oligosaccharyl transferase (OST) complex which contains at least RPN1/ribophorin I, RPN2/ribophorin II, OST48, DAD1, and either STT3A or STT3B. {ECO 0000250}. # SUPFAM SSF52833 SSF52833 # TCDB 1.A.76.1 the magnesium transporter1 (magt1) family # TISSUE SPECIFICITY MAGT1_HUMAN Ubiquitous. Expressed at very low levels in brain, lung and kidney. {ECO 0000269|PubMed 12887896, ECO 0000269|PubMed 15804357, ECO 0000269|PubMed 19717468}. # UCSC uc065abq human. [Q9H0U3-1] # eggNOG ENOG410XR1F LUCA # eggNOG KOG2603 Eukaryota BLAST swissprot:MAGT1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:MAGT1_HUMAN BioCyc ZFISH:ENSG00000102158-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000102158-MONOMER COXPRESdb 84061 http://coxpresdb.jp/data/gene/84061.shtml CleanEx HS_MAGT1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_MAGT1 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1016/S1097-2765(03)00243-0 http://dx.doi.org/10.1016/S1097-2765(03)00243-0 DOI 10.1016/j.ajhg.2008.03.021 http://dx.doi.org/10.1016/j.ajhg.2008.03.021 DOI 10.1016/j.ajhg.2013.06.013 http://dx.doi.org/10.1016/j.ajhg.2013.06.013 DOI 10.1038/nature03440 http://dx.doi.org/10.1038/nature03440 DOI 10.1038/nature10246 http://dx.doi.org/10.1038/nature10246 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.0908332106 http://dx.doi.org/10.1073/pnas.0908332106 DOI 10.1093/dnares/12.2.117 http://dx.doi.org/10.1093/dnares/12.2.117 DOI 10.1101/gr.1293003 http://dx.doi.org/10.1101/gr.1293003 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1101/gr.GR1547R http://dx.doi.org/10.1101/gr.GR1547R DOI 10.1186/1471-2164-6-48 http://dx.doi.org/10.1186/1471-2164-6-48 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AK075394 http://www.ebi.ac.uk/ena/data/view/AK075394 EMBL AK223131 http://www.ebi.ac.uk/ena/data/view/AK223131 EMBL AK314309 http://www.ebi.ac.uk/ena/data/view/AK314309 EMBL AL136636 http://www.ebi.ac.uk/ena/data/view/AL136636 EMBL AL138743 http://www.ebi.ac.uk/ena/data/view/AL138743 EMBL AL138743 http://www.ebi.ac.uk/ena/data/view/AL138743 EMBL AL356235 http://www.ebi.ac.uk/ena/data/view/AL356235 EMBL AL356235 http://www.ebi.ac.uk/ena/data/view/AL356235 EMBL AY358691 http://www.ebi.ac.uk/ena/data/view/AY358691 EMBL BC041014 http://www.ebi.ac.uk/ena/data/view/BC041014 EMBL BC060842 http://www.ebi.ac.uk/ena/data/view/BC060842 EMBL BC063037 http://www.ebi.ac.uk/ena/data/view/BC063037 EMBL CH471104 http://www.ebi.ac.uk/ena/data/view/CH471104 EMBL CH471104 http://www.ebi.ac.uk/ena/data/view/CH471104 EMBL CH471104 http://www.ebi.ac.uk/ena/data/view/CH471104 EMBL DQ000004 http://www.ebi.ac.uk/ena/data/view/DQ000004 Ensembl ENST00000373336 http://www.ensembl.org/id/ENST00000373336 Ensembl ENST00000618282 http://www.ensembl.org/id/ENST00000618282 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0008250 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008250 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_function GO:0015095 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015095 GO_process GO:0006487 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006487 GO_process GO:0015693 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015693 GO_process GO:0018279 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0018279 GO_process GO:0050890 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050890 GO_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006464 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006464 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 3.40.30.10 http://www.cathdb.info/version/latest/superfamily/3.40.30.10 GeneCards MAGT1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=MAGT1 GeneID 84061 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=84061 GeneTree ENSGT00390000012030 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000012030 H-InvDB HIX0016886 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0016886 HGNC HGNC:28880 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:28880 HOGENOM HOG000143405 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000143405&db=HOGENOM6 HOVERGEN HBG002493 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG002493&db=HOVERGEN HPA HPA049851 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA049851 InParanoid Q9H0U3 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9H0U3 IntAct Q9H0U3 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9H0U3* InterPro IPR006844 http://www.ebi.ac.uk/interpro/entry/IPR006844 InterPro IPR012336 http://www.ebi.ac.uk/interpro/entry/IPR012336 InterPro IPR021149 http://www.ebi.ac.uk/interpro/entry/IPR021149 Jabion 84061 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=84061 KEGG_Disease H00480 http://www.genome.jp/dbget-bin/www_bget?H00480 KEGG_Gene hsa:84061 http://www.genome.jp/dbget-bin/www_bget?hsa:84061 MIM 300715 http://www.ncbi.nlm.nih.gov/omim/300715 MIM 300853 http://www.ncbi.nlm.nih.gov/omim/300853 MINT MINT-3972987 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-3972987 Orphanet 317476 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=317476 Orphanet 777 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=777 PANTHER PTHR12692:SF2 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12692:SF2 PSORT swissprot:MAGT1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:MAGT1_HUMAN PSORT-B swissprot:MAGT1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:MAGT1_HUMAN PSORT2 swissprot:MAGT1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:MAGT1_HUMAN Pfam PF04756 http://pfam.xfam.org/family/PF04756 PharmGKB PA162394900 http://www.pharmgkb.org/do/serve?objId=PA162394900&objCls=Gene Phobius swissprot:MAGT1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:MAGT1_HUMAN PhylomeDB Q9H0U3 http://phylomedb.org/?seqid=Q9H0U3 ProteinModelPortal Q9H0U3 http://www.proteinmodelportal.org/query/uniprot/Q9H0U3 PubMed 11230166 http://www.ncbi.nlm.nih.gov/pubmed/11230166 PubMed 12887896 http://www.ncbi.nlm.nih.gov/pubmed/12887896 PubMed 12975309 http://www.ncbi.nlm.nih.gov/pubmed/12975309 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15772651 http://www.ncbi.nlm.nih.gov/pubmed/15772651 PubMed 15804357 http://www.ncbi.nlm.nih.gov/pubmed/15804357 PubMed 16303743 http://www.ncbi.nlm.nih.gov/pubmed/16303743 PubMed 18455129 http://www.ncbi.nlm.nih.gov/pubmed/18455129 PubMed 19717468 http://www.ncbi.nlm.nih.gov/pubmed/19717468 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 21796205 http://www.ncbi.nlm.nih.gov/pubmed/21796205 PubMed 23871722 http://www.ncbi.nlm.nih.gov/pubmed/23871722 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 Reactome R-HSA-446203 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-446203 Reactome R-HSA-5223345 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5223345 Reactome R-HSA-6798695 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6798695 RefSeq NP_115497 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_115497 SMR Q9H0U3 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9H0U3 STRING 9606.ENSP00000354649 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000354649&targetmode=cogs SUPFAM SSF52833 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52833 TCDB 1.A.76.1 http://www.tcdb.org/search/result.php?tc=1.A.76.1 UCSC uc065abq http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc065abq&org=rat UniGene Hs.323562 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.323562 UniProtKB MAGT1_HUMAN http://www.uniprot.org/uniprot/MAGT1_HUMAN UniProtKB-AC Q9H0U3 http://www.uniprot.org/uniprot/Q9H0U3 charge swissprot:MAGT1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:MAGT1_HUMAN eggNOG ENOG410XR1F http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XR1F eggNOG KOG2603 http://eggnogapi.embl.de/nog_data/html/tree/KOG2603 epestfind swissprot:MAGT1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:MAGT1_HUMAN garnier swissprot:MAGT1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:MAGT1_HUMAN helixturnhelix swissprot:MAGT1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:MAGT1_HUMAN hmoment swissprot:MAGT1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:MAGT1_HUMAN iep swissprot:MAGT1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:MAGT1_HUMAN inforesidue swissprot:MAGT1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:MAGT1_HUMAN neXtProt NX_Q9H0U3 http://www.nextprot.org/db/entry/NX_Q9H0U3 octanol swissprot:MAGT1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:MAGT1_HUMAN pepcoil swissprot:MAGT1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:MAGT1_HUMAN pepdigest swissprot:MAGT1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:MAGT1_HUMAN pepinfo swissprot:MAGT1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:MAGT1_HUMAN pepnet swissprot:MAGT1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:MAGT1_HUMAN pepstats swissprot:MAGT1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:MAGT1_HUMAN pepwheel swissprot:MAGT1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:MAGT1_HUMAN pepwindow swissprot:MAGT1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:MAGT1_HUMAN sigcleave swissprot:MAGT1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:MAGT1_HUMAN ## Database ID URL or Descriptions # AltName PERF_HUMAN Cytolysin # AltName PERF_HUMAN Lymphocyte pore-forming protein # BioGrid 111542 5 # DISEASE PERF_HUMAN Familial hemophagocytic lymphohistiocytosis 2 (FHL2) [MIM 603553] A rare disorder characterized by immune dysregulation with hypercytokinemia, defective function of natural killer cell, and massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently neurological abnormalities ranging from irritability and hypotonia to seizures, cranial nerve deficits and ataxia. {ECO 0000269|PubMed 10583959, ECO 0000269|PubMed 11179007}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DOMAIN PERF_HUMAN The C2 domain mediates calcium-dependent binding to lipid membranes. A subsequent conformation change leads to membrane insertion of beta-hairpin structures and pore formation. The pore is formed by transmembrane beta-strands. # Ensembl ENST00000373209 ENSP00000362305; ENSG00000180644 # Ensembl ENST00000441259 ENSP00000398568; ENSG00000180644 # FUNCTION PERF_HUMAN Plays a key role in secretory granule-dependent cell death, and in defense against virus-infected or neoplastic cells. Plays an important role in killing other cells that are recognized as non-self by the immune system, e.g. in transplant rejection or some forms of autoimmune disease. Can insert into the membrane of target cells in its calcium-bound form, oligomerize and form large pores. Promotes cytolysis and apoptosis of target cells by facilitating the uptake of cytotoxic granzymes. {ECO 0000269|PubMed 20038786, ECO 0000269|PubMed 20225066, ECO 0000269|PubMed 20889983, ECO 0000269|PubMed 21037563, ECO 0000269|PubMed 9058810, ECO 0000269|PubMed 9164947}. # GO_component GO:0005576 extracellular region; IEA:UniProtKB-SubCell. # GO_component GO:0005886 plasma membrane; IEA:UniProtKB-SubCell. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; IDA:UniProtKB. # GO_component GO:0016023 cytoplasmic, membrane-bounded vesicle; IEA:Ensembl. # GO_component GO:0031904 endosome lumen; IEA:UniProtKB-SubCell. # GO_component GO:0044194 cytolytic granule; ISS:UniProtKB. # GO_function GO:0005509 calcium ion binding; ISS:UniProtKB. # GO_function GO:0022829 wide pore channel activity; IDA:UniProtKB. # GO_process GO:0001771 immunological synapse formation; IDA:UniProtKB. # GO_process GO:0002357 defense response to tumor cell; ISS:UniProtKB. # GO_process GO:0002418 immune response to tumor cell; ISS:UniProtKB. # GO_process GO:0006915 apoptotic process; TAS:ProtInc. # GO_process GO:0006968 cellular defense response; TAS:ProtInc. # GO_process GO:0019835 cytolysis; ISS:UniProtKB. # GO_process GO:0051260 protein homooligomerization; IDA:UniProtKB. # GO_process GO:0051607 defense response to virus; ISS:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005576 extracellular region # GOslim_component GO:0005764 lysosome # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0002376 immune system process # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006950 response to stress # GOslim_process GO:0008150 biological_process # GOslim_process GO:0008219 cell death # GOslim_process GO:0044403 symbiosis, encompassing mutualism through parasitism # Gene3D 2.60.40.150 -; 1. # Genevisible P14222 HS # HGNC HGNC:9360 PRF1 # INDUCTION Repressed by contact with target cells. {ECO:0000269|PubMed 8676885}. # INTERACTION PERF_HUMAN P10144 GZMB; NbExp=3; IntAct=EBI-724466, EBI-2505785; Q15323 KRT31; NbExp=5; IntAct=EBI-724466, EBI-948001; # IntAct P14222 6 # InterPro IPR000008 C2_dom # InterPro IPR020863 MACPF_CS # InterPro IPR020864 MACPF # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04090 Cellular antigens # KEGG_Disease H00109 [Primary immunodeficiency] STX11 deficiency # KEGG_Pathway ko04650 Natural killer cell mediated cytotoxicity # KEGG_Pathway ko04940 Type I diabetes mellitus # KEGG_Pathway ko05320 Autoimmune thyroid disease # KEGG_Pathway ko05330 Allograft rejection # KEGG_Pathway ko05332 Graft-versus-host disease # KEGG_Pathway ko05416 Viral myocarditis # MIM 170280 gene # MIM 603553 phenotype # Organism PERF_HUMAN Homo sapiens (Human) # Orphanet 391343 Fatal post-viral neurodegenerative disorder # Orphanet 540 Familial hemophagocytic lymphohistiocytosis # Orphanet 88 Idiopathic aplastic anemia # PIR A45816 A37181 # PROSITE PS00279 MACPF_1 # PROSITE PS50004 C2 # PROSITE PS51412 MACPF_2 # PTM PERF_HUMAN N-glycosylated. {ECO 0000250}. # Pfam PF00168 C2 # Pfam PF01823 MACPF # Proteomes UP000005640 Chromosome 10 # RecName PERF_HUMAN Perforin-1 # RefSeq NP_001076585 NM_001083116.1 # RefSeq NP_005032 NM_005041.4 # SIMILARITY Belongs to the complement C6/C7/C8/C9 family. {ECO 0000305}. # SIMILARITY Contains 1 C2 domain. {ECO:0000255|PROSITE- ProRule PRU00041}. # SIMILARITY Contains 1 EGF-like domain. {ECO 0000305}. # SIMILARITY Contains 1 MACPF domain. {ECO:0000255|PROSITE- ProRule PRU00745}. # SMART SM00239 C2 # SMART SM00457 MACPF # SUBCELLULAR LOCATION PERF_HUMAN Cytoplasmic granule lumen. Secreted. Cell membrane; Multi-pass membrane protein. Endosome lumen. Note=Stored in cytoplasmic granules of cytolytic T-lymphocytes and secreted into the cleft between T-lymphocyte and target cell. Inserts into the cell membrane of target cells and forms pores. Membrane insertion and pore formation requires a major conformation change. May be taken up via endocytosis involving clathrin-coated vesicles and accumulate in a first time in large early endosomes. # SUBUNIT PERF_HUMAN Monomer, as sobluble protein. Homooligomer. Oligomerization is required for pore formation. {ECO 0000269|PubMed 20889983, ECO 0000269|PubMed 21037563}. # SUPFAM SSF49562 SSF49562 # UCSC uc001jrf human # WEB RESOURCE PERF_HUMAN Name=PRF1base; Note=PRF1 mutation db; URL="http //structure.bmc.lu.se/idbase/PRF1base/"; # WEB RESOURCE PERF_HUMAN Name=Protein Spotlight; Note=Our hollow architecture - Issue 126 of February 2011; URL="http //web.expasy.org/spotlight/back_issues/126"; # WEB RESOURCE PERF_HUMAN Name=Wikipedia; Note=Perforin entry; URL="https //en.wikipedia.org/wiki/Perforin"; # eggNOG ENOG410IGJ0 Eukaryota # eggNOG ENOG410XSHK LUCA BLAST swissprot:PERF_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:PERF_HUMAN BioCyc ZFISH:ENSG00000180644-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000180644-MONOMER COXPRESdb 5551 http://coxpresdb.jp/data/gene/5551.shtml CleanEx HS_PRF1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_PRF1 DIP DIP-53288N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-53288N DOI 10.1007/BF02421177 http://dx.doi.org/10.1007/BF02421177 DOI 10.1007/s00109-010-0602-9 http://dx.doi.org/10.1007/s00109-010-0602-9 DOI 10.1016/0161-5890(90)90001-G http://dx.doi.org/10.1016/0161-5890(90)90001-G DOI 10.1016/0161-5890(95)00155-7 http://dx.doi.org/10.1016/0161-5890(95)00155-7 DOI 10.1021/pr8008012 http://dx.doi.org/10.1021/pr8008012 DOI 10.1038/335448a0 http://dx.doi.org/10.1038/335448a0 DOI 10.1038/nature02462 http://dx.doi.org/10.1038/nature02462 DOI 10.1038/nature09518 http://dx.doi.org/10.1038/nature09518 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.M110.169417 http://dx.doi.org/10.1074/jbc.M110.169417 DOI 10.1086/318796 http://dx.doi.org/10.1086/318796 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1133427 http://dx.doi.org/10.1126/science.1133427 DOI 10.1126/science.286.5446.1957 http://dx.doi.org/10.1126/science.286.5446.1957 DOI 10.1182/blood-2009-10-246116 http://dx.doi.org/10.1182/blood-2009-10-246116 EMBL AB209604 http://www.ebi.ac.uk/ena/data/view/AB209604 EMBL AK312754 http://www.ebi.ac.uk/ena/data/view/AK312754 EMBL AL355344 http://www.ebi.ac.uk/ena/data/view/AL355344 EMBL BC047695 http://www.ebi.ac.uk/ena/data/view/BC047695 EMBL BC063043 http://www.ebi.ac.uk/ena/data/view/BC063043 EMBL CH471083 http://www.ebi.ac.uk/ena/data/view/CH471083 EMBL L40557 http://www.ebi.ac.uk/ena/data/view/L40557 EMBL M28393 http://www.ebi.ac.uk/ena/data/view/M28393 EMBL M31951 http://www.ebi.ac.uk/ena/data/view/M31951 EMBL X13224 http://www.ebi.ac.uk/ena/data/view/X13224 Ensembl ENST00000373209 http://www.ensembl.org/id/ENST00000373209 Ensembl ENST00000441259 http://www.ensembl.org/id/ENST00000441259 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005576 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005576 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0016023 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016023 GO_component GO:0031904 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031904 GO_component GO:0044194 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044194 GO_function GO:0005509 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005509 GO_function GO:0022829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022829 GO_process GO:0001771 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001771 GO_process GO:0002357 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002357 GO_process GO:0002418 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002418 GO_process GO:0006915 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006915 GO_process GO:0006968 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006968 GO_process GO:0019835 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019835 GO_process GO:0051260 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051260 GO_process GO:0051607 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051607 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005576 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005576 GOslim_component GO:0005764 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005764 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0002376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002376 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0008219 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008219 GOslim_process GO:0044403 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044403 Gene3D 2.60.40.150 http://www.cathdb.info/version/latest/superfamily/2.60.40.150 GeneCards PRF1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=PRF1 GeneID 5551 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=5551 GeneTree ENSGT00530000063725 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000063725 HGNC HGNC:9360 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:9360 HOGENOM HOG000236309 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000236309&db=HOGENOM6 HOVERGEN HBG008168 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG008168&db=HOVERGEN HPA CAB002436 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB002436 HPA HPA037940 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA037940 InParanoid P14222 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P14222 IntAct P14222 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P14222* InterPro IPR000008 http://www.ebi.ac.uk/interpro/entry/IPR000008 InterPro IPR020863 http://www.ebi.ac.uk/interpro/entry/IPR020863 InterPro IPR020864 http://www.ebi.ac.uk/interpro/entry/IPR020864 Jabion 5551 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=5551 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04090 http://www.genome.jp/dbget-bin/www_bget?ko04090 KEGG_Disease H00109 http://www.genome.jp/dbget-bin/www_bget?H00109 KEGG_Gene hsa:5551 http://www.genome.jp/dbget-bin/www_bget?hsa:5551 KEGG_Orthology KO:K07818 http://www.genome.jp/dbget-bin/www_bget?KO:K07818 KEGG_Pathway ko04650 http://www.genome.jp/kegg-bin/show_pathway?ko04650 KEGG_Pathway ko04940 http://www.genome.jp/kegg-bin/show_pathway?ko04940 KEGG_Pathway ko05320 http://www.genome.jp/kegg-bin/show_pathway?ko05320 KEGG_Pathway ko05330 http://www.genome.jp/kegg-bin/show_pathway?ko05330 KEGG_Pathway ko05332 http://www.genome.jp/kegg-bin/show_pathway?ko05332 KEGG_Pathway ko05416 http://www.genome.jp/kegg-bin/show_pathway?ko05416 MIM 170280 http://www.ncbi.nlm.nih.gov/omim/170280 MIM 603553 http://www.ncbi.nlm.nih.gov/omim/603553 MINT MINT-1401322 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1401322 OMA NYGTHFI http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=NYGTHFI Orphanet 391343 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=391343 Orphanet 540 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=540 Orphanet 88 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=88 OrthoDB EOG091G03LE http://cegg.unige.ch/orthodb/results?searchtext=EOG091G03LE PROSITE PS00279 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00279 PROSITE PS50004 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50004 PROSITE PS51412 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51412 PSORT swissprot:PERF_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:PERF_HUMAN PSORT-B swissprot:PERF_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:PERF_HUMAN PSORT2 swissprot:PERF_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:PERF_HUMAN Pfam PF00168 http://pfam.xfam.org/family/PF00168 Pfam PF01823 http://pfam.xfam.org/family/PF01823 PharmGKB PA33732 http://www.pharmgkb.org/do/serve?objId=PA33732&objCls=Gene Phobius swissprot:PERF_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:PERF_HUMAN PhylomeDB P14222 http://phylomedb.org/?seqid=P14222 ProteinModelPortal P14222 http://www.proteinmodelportal.org/query/uniprot/P14222 PubMed 10583959 http://www.ncbi.nlm.nih.gov/pubmed/10583959 PubMed 11179007 http://www.ncbi.nlm.nih.gov/pubmed/11179007 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15164054 http://www.ncbi.nlm.nih.gov/pubmed/15164054 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16959974 http://www.ncbi.nlm.nih.gov/pubmed/16959974 PubMed 19159218 http://www.ncbi.nlm.nih.gov/pubmed/19159218 PubMed 20038786 http://www.ncbi.nlm.nih.gov/pubmed/20038786 PubMed 20225066 http://www.ncbi.nlm.nih.gov/pubmed/20225066 PubMed 20889983 http://www.ncbi.nlm.nih.gov/pubmed/20889983 PubMed 21037563 http://www.ncbi.nlm.nih.gov/pubmed/21037563 PubMed 2395434 http://www.ncbi.nlm.nih.gov/pubmed/2395434 PubMed 2480391 http://www.ncbi.nlm.nih.gov/pubmed/2480391 PubMed 2592021 http://www.ncbi.nlm.nih.gov/pubmed/2592021 PubMed 3419519 http://www.ncbi.nlm.nih.gov/pubmed/3419519 PubMed 8676885 http://www.ncbi.nlm.nih.gov/pubmed/8676885 PubMed 9058810 http://www.ncbi.nlm.nih.gov/pubmed/9058810 PubMed 9164947 http://www.ncbi.nlm.nih.gov/pubmed/9164947 RefSeq NP_001076585 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001076585 RefSeq NP_005032 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_005032 SMART SM00239 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00239 SMART SM00457 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00457 SMR P14222 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P14222 STRING 9606.ENSP00000316746 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000316746&targetmode=cogs SUPFAM SSF49562 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF49562 UCSC uc001jrf http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001jrf&org=rat UniGene Hs.2200 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.2200 UniProtKB PERF_HUMAN http://www.uniprot.org/uniprot/PERF_HUMAN UniProtKB-AC P14222 http://www.uniprot.org/uniprot/P14222 charge swissprot:PERF_HUMAN http://rest.g-language.org/emboss/charge/swissprot:PERF_HUMAN eggNOG ENOG410IGJ0 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IGJ0 eggNOG ENOG410XSHK http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XSHK epestfind swissprot:PERF_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:PERF_HUMAN garnier swissprot:PERF_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:PERF_HUMAN helixturnhelix swissprot:PERF_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:PERF_HUMAN hmoment swissprot:PERF_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:PERF_HUMAN iep swissprot:PERF_HUMAN http://rest.g-language.org/emboss/iep/swissprot:PERF_HUMAN inforesidue swissprot:PERF_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:PERF_HUMAN neXtProt NX_P14222 http://www.nextprot.org/db/entry/NX_P14222 octanol swissprot:PERF_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:PERF_HUMAN pepcoil swissprot:PERF_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:PERF_HUMAN pepdigest swissprot:PERF_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:PERF_HUMAN pepinfo swissprot:PERF_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:PERF_HUMAN pepnet swissprot:PERF_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:PERF_HUMAN pepstats swissprot:PERF_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:PERF_HUMAN pepwheel swissprot:PERF_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:PERF_HUMAN pepwindow swissprot:PERF_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:PERF_HUMAN sigcleave swissprot:PERF_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:PERF_HUMAN ## Database ID URL or Descriptions # CDD cd06174 MFS # FUNCTION S22AV_HUMAN Organic anion transporter that mediates the uptake of ions. {ECO 0000305}. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_function GO:0008514 organic anion transmembrane transporter activity; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # HGNC HGNC:27091 SLC22A31 # InterPro IPR005828 MFS_sugar_transport-like # InterPro IPR020846 MFS_dom # Organism S22AV_HUMAN Homo sapiens (Human) # PROSITE PS50850 MFS # Pfam PF00083 Sugar_tr # Proteomes UP000005640 Unplaced # RecName S22AV_HUMAN Putative solute carrier family 22 member 31 # SIMILARITY Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family. {ECO 0000305}. # SUBCELLULAR LOCATION S22AV_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # SUPFAM SSF103473 SSF103473 # TCDB 2.A.1.19.23 the major facilitator superfamily (mfs) BLAST swissprot:S22AV_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S22AV_HUMAN DOI 10.1038/nature03187 http://dx.doi.org/10.1038/nature03187 EMBL AC009113 http://www.ebi.ac.uk/ena/data/view/AC009113 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0008514 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008514 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GeneCards SLC22A31 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC22A31 HGNC HGNC:27091 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:27091 HOGENOM HOG000015298 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000015298&db=HOGENOM6 HOVERGEN HBG108438 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG108438&db=HOVERGEN HPA CAB002669 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB002669 InParanoid A6NKX4 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=A6NKX4 InterPro IPR005828 http://www.ebi.ac.uk/interpro/entry/IPR005828 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PSORT swissprot:S22AV_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S22AV_HUMAN PSORT-B swissprot:S22AV_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S22AV_HUMAN PSORT2 swissprot:S22AV_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S22AV_HUMAN Pfam PF00083 http://pfam.xfam.org/family/PF00083 Phobius swissprot:S22AV_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S22AV_HUMAN PhylomeDB A6NKX4 http://phylomedb.org/?seqid=A6NKX4 ProteinModelPortal A6NKX4 http://www.proteinmodelportal.org/query/uniprot/A6NKX4 PubMed 15616553 http://www.ncbi.nlm.nih.gov/pubmed/15616553 SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.1.19.23 http://www.tcdb.org/search/result.php?tc=2.A.1.19.23 UniGene Hs.447544 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.447544 UniGene Hs.743726 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.743726 UniProtKB S22AV_HUMAN http://www.uniprot.org/uniprot/S22AV_HUMAN UniProtKB-AC A6NKX4 http://www.uniprot.org/uniprot/A6NKX4 charge swissprot:S22AV_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S22AV_HUMAN epestfind swissprot:S22AV_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S22AV_HUMAN garnier swissprot:S22AV_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S22AV_HUMAN helixturnhelix swissprot:S22AV_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S22AV_HUMAN hmoment swissprot:S22AV_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S22AV_HUMAN iep swissprot:S22AV_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S22AV_HUMAN inforesidue swissprot:S22AV_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S22AV_HUMAN neXtProt NX_A6NKX4 http://www.nextprot.org/db/entry/NX_A6NKX4 octanol swissprot:S22AV_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S22AV_HUMAN pepcoil swissprot:S22AV_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S22AV_HUMAN pepdigest swissprot:S22AV_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S22AV_HUMAN pepinfo swissprot:S22AV_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S22AV_HUMAN pepnet swissprot:S22AV_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S22AV_HUMAN pepstats swissprot:S22AV_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S22AV_HUMAN pepwheel swissprot:S22AV_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S22AV_HUMAN pepwindow swissprot:S22AV_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S22AV_HUMAN sigcleave swissprot:S22AV_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S22AV_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS SAMC_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q70HW3-1; Sequence=Displayed; Name=2; IsoId=Q70HW3-2; Sequence=VSP_031062; Name=3; IsoId=Q70HW3-3; Sequence=VSP_031062, VSP_031063, VSP_031064; Note=No experimental confirmation available.; # AltName SAMC_HUMAN Mitochondrial S-adenosylmethionine transporter # AltName SAMC_HUMAN Solute carrier family 25 member 26 # BioGrid 125423 3 # CCDS CCDS2905 -. [Q70HW3-1] # CCDS CCDS54604 -. [Q70HW3-2] # ChiTaRS SLC25A26 human # DISEASE SAMC_HUMAN Combined oxidative phosphorylation deficiency 28 (COXPD28) [MIM 616794] An autosomal recessive mitochondrial disorder characterized by decreased activities of respiratory chain enzymes, and variable clinical manifestations. Clinical features include episodic metabolic decompensation beginning in infancy, mild muscle weakness, cardiorespiratory insufficiency, developmental delay, or even death. {ECO 0000269|PubMed 26522469}. Note=The disease is caused by mutations affecting the gene represented in this entry. # ENZYME REGULATION Strongly inhibited by tannic acid and Bromocresol Purple. {ECO:0000269|PubMed 14674884}. # Ensembl ENST00000336733 ENSP00000336801; ENSG00000144741. [Q70HW3-2] # Ensembl ENST00000632575 ENSP00000488865; ENSG00000282739. [Q70HW3-2] # ExpressionAtlas Q70HW3 baseline and differential # FUNCTION SAMC_HUMAN Mitochondrial solute carriers shuttle metabolites, nucleotides, and cofactors through the mitochondrial inner membrane. Specifically mediates the transport of S- adenosylmethionine (SAM) into the mitochondria. {ECO 0000269|PubMed 14674884, ECO 0000269|PubMed 26522469}. # GO_component GO:0005739 mitochondrion; IDA:HPA. # GO_component GO:0005743 mitochondrial inner membrane; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0000095 S-adenosyl-L-methionine transmembrane transporter activity; IMP:UniProtKB. # GO_process GO:0006811 ion transport; TAS:Reactome. # GO_process GO:0015805 S-adenosyl-L-methionine transport; IMP:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005739 mitochondrion # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # Gene3D 1.50.40.10 -; 1. # Genevisible Q70HW3 HS # HGNC HGNC:20661 SLC25A26 # InterPro IPR018108 Mitochondrial_sb/sol_carrier # InterPro IPR023395 Mt_carrier_dom # KEGG_Brite ko02001 Solute carrier family # MIM 611037 gene # MIM 616794 phenotype # Organism SAMC_HUMAN Homo sapiens (Human) # PROSITE PS50920 SOLCAR; 3 # Pfam PF00153 Mito_carr; 3 # Proteomes UP000005640 Chromosome 3 # Reactome R-HSA-425393 Transport of inorganic cations/anions and amino acids/oligopeptides # RecName SAMC_HUMAN S-adenosylmethionine mitochondrial carrier protein # RefSeq NP_001158268 NM_001164796.1. [Q70HW3-2] # RefSeq NP_775742 NM_173471.3 # RefSeq XP_011531629 XM_011533327.2. [Q70HW3-2] # SIMILARITY Belongs to the mitochondrial carrier (TC 2.A.29) family. {ECO 0000305}. # SIMILARITY Contains 3 Solcar repeats. {ECO:0000255|PROSITE- ProRule PRU00282}. # SUBCELLULAR LOCATION SAMC_HUMAN Mitochondrion inner membrane {ECO 0000269|PubMed 14674884}; Multi-pass membrane protein {ECO 0000269|PubMed 14674884}. # SUPFAM SSF103506 SSF103506 # TCDB 2.A.29.18 the mitochondrial carrier (mc) family # TISSUE SPECIFICITY Widely expressed. Highly expressed in testis, with moderate expression in brain, heart, kidney, lung, skeletal muscle, pancreas, small intestine and liver, and low expression in spleen. {ECO:0000269|PubMed 14674884}. # UCSC uc011bfs human. [Q70HW3-1] # eggNOG ENOG4110BII LUCA # eggNOG KOG0768 Eukaryota BLAST swissprot:SAMC_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SAMC_HUMAN COXPRESdb 115286 http://coxpresdb.jp/data/gene/115286.shtml CleanEx HS_SLC25A26 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC25A26 DOI 10.1016/j.ajhg.2015.09.013 http://dx.doi.org/10.1016/j.ajhg.2015.09.013 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1042/BJ20031664 http://dx.doi.org/10.1042/BJ20031664 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AJ580932 http://www.ebi.ac.uk/ena/data/view/AJ580932 EMBL AK092495 http://www.ebi.ac.uk/ena/data/view/AK092495 EMBL AK096876 http://www.ebi.ac.uk/ena/data/view/AK096876 EMBL AK291873 http://www.ebi.ac.uk/ena/data/view/AK291873 EMBL BC003399 http://www.ebi.ac.uk/ena/data/view/BC003399 EMBL BC012852 http://www.ebi.ac.uk/ena/data/view/BC012852 EMBL CH471055 http://www.ebi.ac.uk/ena/data/view/CH471055 EMBL CH471055 http://www.ebi.ac.uk/ena/data/view/CH471055 Ensembl ENST00000336733 http://www.ensembl.org/id/ENST00000336733 Ensembl ENST00000632575 http://www.ensembl.org/id/ENST00000632575 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0000095 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000095 GO_process GO:0006811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006811 GO_process GO:0015805 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015805 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 Gene3D 1.50.40.10 http://www.cathdb.info/version/latest/superfamily/1.50.40.10 GeneCards SLC25A26 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC25A26 GeneID 115286 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=115286 GeneTree ENSGT00550000074950 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074950 HGNC HGNC:20661 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:20661 HOGENOM HOG000038810 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000038810&db=HOGENOM6 HOVERGEN HBG108456 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG108456&db=HOVERGEN HPA HPA026887 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA026887 InParanoid Q70HW3 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q70HW3 InterPro IPR018108 http://www.ebi.ac.uk/interpro/entry/IPR018108 InterPro IPR023395 http://www.ebi.ac.uk/interpro/entry/IPR023395 Jabion 115286 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=115286 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:115286 http://www.genome.jp/dbget-bin/www_bget?hsa:115286 KEGG_Orthology KO:K15111 http://www.genome.jp/dbget-bin/www_bget?KO:K15111 MIM 611037 http://www.ncbi.nlm.nih.gov/omim/611037 MIM 616794 http://www.ncbi.nlm.nih.gov/omim/616794 PROSITE PS50920 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50920 PSORT swissprot:SAMC_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SAMC_HUMAN PSORT-B swissprot:SAMC_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SAMC_HUMAN PSORT2 swissprot:SAMC_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SAMC_HUMAN Pfam PF00153 http://pfam.xfam.org/family/PF00153 PharmGKB PA134987831 http://www.pharmgkb.org/do/serve?objId=PA134987831&objCls=Gene Phobius swissprot:SAMC_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SAMC_HUMAN PhylomeDB Q70HW3 http://phylomedb.org/?seqid=Q70HW3 ProteinModelPortal Q70HW3 http://www.proteinmodelportal.org/query/uniprot/Q70HW3 PubMed 14674884 http://www.ncbi.nlm.nih.gov/pubmed/14674884 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 26522469 http://www.ncbi.nlm.nih.gov/pubmed/26522469 Reactome R-HSA-425393 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-425393 RefSeq NP_001158268 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001158268 RefSeq NP_775742 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_775742 RefSeq XP_011531629 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011531629 STRING 9606.ENSP00000336801 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000336801&targetmode=cogs SUPFAM SSF103506 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103506 TCDB 2.A.29.18 http://www.tcdb.org/search/result.php?tc=2.A.29.18 UCSC uc011bfs http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc011bfs&org=rat UniGene Hs.379386 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.379386 UniProtKB SAMC_HUMAN http://www.uniprot.org/uniprot/SAMC_HUMAN UniProtKB-AC Q70HW3 http://www.uniprot.org/uniprot/Q70HW3 charge swissprot:SAMC_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SAMC_HUMAN eggNOG ENOG4110BII http://eggnogapi.embl.de/nog_data/html/tree/ENOG4110BII eggNOG KOG0768 http://eggnogapi.embl.de/nog_data/html/tree/KOG0768 epestfind swissprot:SAMC_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SAMC_HUMAN garnier swissprot:SAMC_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SAMC_HUMAN helixturnhelix swissprot:SAMC_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SAMC_HUMAN hmoment swissprot:SAMC_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SAMC_HUMAN iep swissprot:SAMC_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SAMC_HUMAN inforesidue swissprot:SAMC_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SAMC_HUMAN neXtProt NX_Q70HW3 http://www.nextprot.org/db/entry/NX_Q70HW3 octanol swissprot:SAMC_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SAMC_HUMAN pepcoil swissprot:SAMC_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SAMC_HUMAN pepdigest swissprot:SAMC_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SAMC_HUMAN pepinfo swissprot:SAMC_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SAMC_HUMAN pepnet swissprot:SAMC_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SAMC_HUMAN pepstats swissprot:SAMC_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SAMC_HUMAN pepwheel swissprot:SAMC_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SAMC_HUMAN pepwindow swissprot:SAMC_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SAMC_HUMAN sigcleave swissprot:SAMC_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SAMC_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS RAMP2_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O60895-1; Sequence=Displayed; Name=2; IsoId=O60895-2; Sequence=VSP_055838; # AltName RAMP2_HUMAN Calcitonin-receptor-like receptor activity-modifying protein 2 # CCDS CCDS11437 -. [O60895-1] # ChiTaRS RAMP2 human # DrugBank DB01278 Pramlintide # Ensembl ENST00000253796 ENSP00000253796; ENSG00000131477. [O60895-1] # Ensembl ENST00000587142 ENSP00000466455; ENSG00000131477. [O60895-2] # ExpressionAtlas O60895 baseline and differential # FUNCTION RAMP2_HUMAN Transports the calcitonin gene-related peptide type 1 receptor (CALCRL) to the plasma membrane. Acts as a receptor for adrenomedullin (AM) together with CALCRL. {ECO 0000269|PubMed 22102369, ECO 0000269|PubMed 9620797}. # GO_component GO:0005737 cytoplasm; IDA:UniProtKB. # GO_component GO:0005764 lysosome; TAS:ProtInc. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0005905 clathrin-coated pit; TAS:ProtInc. # GO_component GO:0009986 cell surface; IDA:UniProtKB. # GO_component GO:0043235 receptor complex; IDA:UniProtKB. # GO_function GO:0008565 protein transporter activity; IDA:UniProtKB. # GO_function GO:0015026 coreceptor activity; ISS:UniProtKB. # GO_process GO:0001525 angiogenesis; IDA:UniProtKB. # GO_process GO:0001570 vasculogenesis; IMP:UniProtKB. # GO_process GO:0001666 response to hypoxia; IEA:Ensembl. # GO_process GO:0002040 sprouting angiogenesis; ISS:UniProtKB. # GO_process GO:0006171 cAMP biosynthetic process; IDA:UniProtKB. # GO_process GO:0006816 calcium ion transport; IDA:UniProtKB. # GO_process GO:0006886 intracellular protein transport; IEA:InterPro. # GO_process GO:0007186 G-protein coupled receptor signaling pathway; IEA:Ensembl. # GO_process GO:0007507 heart development; ISS:UniProtKB. # GO_process GO:0007565 female pregnancy; IEA:Ensembl. # GO_process GO:0008217 regulation of blood pressure; ISS:UniProtKB. # GO_process GO:0008277 regulation of G-protein coupled receptor protein signaling pathway; IEA:InterPro. # GO_process GO:0010628 positive regulation of gene expression; IDA:UniProtKB. # GO_process GO:0015031 protein transport; IDA:UniProtKB. # GO_process GO:0030819 positive regulation of cAMP biosynthetic process; IGI:UniProtKB. # GO_process GO:0031623 receptor internalization; IDA:UniProtKB. # GO_process GO:0032355 response to estradiol; IEA:Ensembl. # GO_process GO:0032570 response to progesterone; IEA:Ensembl. # GO_process GO:0032870 cellular response to hormone stimulus; IEA:Ensembl. # GO_process GO:0034333 adherens junction assembly; IDA:UniProtKB. # GO_process GO:0035924 cellular response to vascular endothelial growth factor stimulus; ISS:UniProtKB. # GO_process GO:0043116 negative regulation of vascular permeability; IDA:UniProtKB. # GO_process GO:0045766 positive regulation of angiogenesis; ISS:UniProtKB. # GO_process GO:0070830 bicellular tight junction assembly; IDA:UniProtKB. # GO_process GO:0070831 basement membrane assembly; ISS:UniProtKB. # GO_process GO:0072659 protein localization to plasma membrane; IDA:UniProtKB. # GO_process GO:0097084 vascular smooth muscle cell development; ISS:UniProtKB. # GO_process GO:2000352 negative regulation of endothelial cell apoptotic process; IDA:UniProtKB. # GO_process GO:2001214 positive regulation of vasculogenesis; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005764 lysosome # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0008565 protein transporter activity # GOslim_process GO:0003013 circulatory system process # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007009 plasma membrane organization # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0016192 vesicle-mediated transport # GOslim_process GO:0022607 cellular component assembly # GOslim_process GO:0030154 cell differentiation # GOslim_process GO:0030198 extracellular matrix organization # GOslim_process GO:0034330 cell junction organization # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0044281 small molecule metabolic process # GOslim_process GO:0048646 anatomical structure formation involved in morphogenesis # GOslim_process GO:0048856 anatomical structure development # Genevisible O60895 HS # HGNC HGNC:9844 RAMP2 # INTERACTION RAMP2_HUMAN Q16602 CALCRL; NbExp=6; IntAct=EBI-9009040, EBI-962878; # InterPro IPR006985 RAMP # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04030 G protein-coupled receptors # KEGG_Pathway ko04270 Vascular smooth muscle contraction # MIM 605154 gene # Organism RAMP2_HUMAN Homo sapiens (Human) # PANTHER PTHR14076 PTHR14076 # PDB 2XVT X-ray; 2.05 A; A/B/C/D/E/F=48-139 # PDB 3AQE X-ray; 2.00 A; A/B/C/D/E/F=56-139 # PDB 3AQF X-ray; 2.60 A; A=56-139 # PDB 4RWF X-ray; 1.76 A; A=55-138 # Pfam PF04901 RAMP # Proteomes UP000005640 Chromosome 17 # Reactome R-HSA-418555 G alpha (s) signalling events # Reactome R-HSA-419812 Calcitonin-like ligand receptors # RecName RAMP2_HUMAN Receptor activity-modifying protein 2 # RefSeq NP_005845 NM_005854.2. [O60895-1] # SIMILARITY Belongs to the RAMP family. {ECO 0000305}. # SUBCELLULAR LOCATION RAMP2_HUMAN Membrane; Single-pass type I membrane protein. # SUBUNIT Heterodimer of CALCRL and RAMP2. {ECO 0000250}. # TISSUE SPECIFICITY Strongly expressed in lung, breast, immune system and fetal tissues. {ECO:0000269|PubMed 9620797}. # UCSC uc002ibg human. [O60895-1] # eggNOG ENOG410IYPR Eukaryota # eggNOG ENOG4112A9G LUCA BLAST swissprot:RAMP2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:RAMP2_HUMAN BioCyc ZFISH:ENSG00000131477-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000131477-MONOMER COXPRESdb 10266 http://coxpresdb.jp/data/gene/10266.shtml CleanEx HS_RAMP2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_RAMP2 DOI 10.1002/pro.2003 http://dx.doi.org/10.1002/pro.2003 DOI 10.1038/30666 http://dx.doi.org/10.1038/30666 DOI 10.1038/nature04689 http://dx.doi.org/10.1038/nature04689 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DrugBank DB01278 http://www.drugbank.ca/drugs/DB01278 EMBL AC100793 http://www.ebi.ac.uk/ena/data/view/AC100793 EMBL AJ001015 http://www.ebi.ac.uk/ena/data/view/AJ001015 EMBL AY265458 http://www.ebi.ac.uk/ena/data/view/AY265458 EMBL BC027975 http://www.ebi.ac.uk/ena/data/view/BC027975 EMBL EF687002 http://www.ebi.ac.uk/ena/data/view/EF687002 Ensembl ENST00000253796 http://www.ensembl.org/id/ENST00000253796 Ensembl ENST00000587142 http://www.ensembl.org/id/ENST00000587142 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005764 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005764 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0005905 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005905 GO_component GO:0009986 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009986 GO_component GO:0043235 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043235 GO_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GO_function GO:0015026 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015026 GO_process GO:0001525 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001525 GO_process GO:0001570 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001570 GO_process GO:0001666 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001666 GO_process GO:0002040 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002040 GO_process GO:0006171 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006171 GO_process GO:0006816 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006816 GO_process GO:0006886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006886 GO_process GO:0007186 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007186 GO_process GO:0007507 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007507 GO_process GO:0007565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007565 GO_process GO:0008217 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008217 GO_process GO:0008277 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008277 GO_process GO:0010628 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010628 GO_process GO:0015031 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015031 GO_process GO:0030819 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030819 GO_process GO:0031623 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031623 GO_process GO:0032355 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032355 GO_process GO:0032570 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032570 GO_process GO:0032870 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032870 GO_process GO:0034333 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034333 GO_process GO:0035924 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035924 GO_process GO:0043116 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043116 GO_process GO:0045766 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045766 GO_process GO:0070830 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070830 GO_process GO:0070831 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070831 GO_process GO:0072659 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0072659 GO_process GO:0097084 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097084 GO_process GO:2000352 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000352 GO_process GO:2001214 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2001214 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005764 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005764 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_process GO:0003013 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003013 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007009 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007009 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0016192 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016192 GOslim_process GO:0022607 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022607 GOslim_process GO:0030154 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030154 GOslim_process GO:0030198 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030198 GOslim_process GO:0034330 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034330 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GOslim_process GO:0048646 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048646 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GeneCards RAMP2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=RAMP2 GeneID 10266 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=10266 GeneTree ENSGT00390000016200 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000016200 HGNC HGNC:9844 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:9844 HOGENOM HOG000230963 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000230963&db=HOGENOM6 HOVERGEN HBG067366 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG067366&db=HOVERGEN InParanoid O60895 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O60895 IntAct O60895 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O60895* InterPro IPR006985 http://www.ebi.ac.uk/interpro/entry/IPR006985 Jabion 10266 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=10266 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04030 http://www.genome.jp/dbget-bin/www_bget?ko04030 KEGG_Gene hsa:10266 http://www.genome.jp/dbget-bin/www_bget?hsa:10266 KEGG_Orthology KO:K08448 http://www.genome.jp/dbget-bin/www_bget?KO:K08448 KEGG_Pathway ko04270 http://www.genome.jp/kegg-bin/show_pathway?ko04270 MIM 605154 http://www.ncbi.nlm.nih.gov/omim/605154 OMA DLGFPNP http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=DLGFPNP OrthoDB EOG091G0RMZ http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0RMZ PANTHER PTHR14076 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR14076 PDB 2XVT http://www.ebi.ac.uk/pdbe-srv/view/entry/2XVT PDB 3AQE http://www.ebi.ac.uk/pdbe-srv/view/entry/3AQE PDB 3AQF http://www.ebi.ac.uk/pdbe-srv/view/entry/3AQF PDB 4RWF http://www.ebi.ac.uk/pdbe-srv/view/entry/4RWF PDBsum 2XVT http://www.ebi.ac.uk/pdbsum/2XVT PDBsum 3AQE http://www.ebi.ac.uk/pdbsum/3AQE PDBsum 3AQF http://www.ebi.ac.uk/pdbsum/3AQF PDBsum 4RWF http://www.ebi.ac.uk/pdbsum/4RWF PSORT swissprot:RAMP2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:RAMP2_HUMAN PSORT-B swissprot:RAMP2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:RAMP2_HUMAN PSORT2 swissprot:RAMP2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:RAMP2_HUMAN Pfam PF04901 http://pfam.xfam.org/family/PF04901 PharmGKB PA34203 http://www.pharmgkb.org/do/serve?objId=PA34203&objCls=Gene Phobius swissprot:RAMP2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:RAMP2_HUMAN PhylomeDB O60895 http://phylomedb.org/?seqid=O60895 ProteinModelPortal O60895 http://www.proteinmodelportal.org/query/uniprot/O60895 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16625196 http://www.ncbi.nlm.nih.gov/pubmed/16625196 PubMed 22102369 http://www.ncbi.nlm.nih.gov/pubmed/22102369 PubMed 9620797 http://www.ncbi.nlm.nih.gov/pubmed/9620797 Reactome R-HSA-418555 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-418555 Reactome R-HSA-419812 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-419812 RefSeq NP_005845 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_005845 SMR O60895 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=O60895 STRING 9606.ENSP00000253796 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000253796&targetmode=cogs UCSC uc002ibg http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002ibg&org=rat UniGene Hs.514193 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.514193 UniProtKB RAMP2_HUMAN http://www.uniprot.org/uniprot/RAMP2_HUMAN UniProtKB-AC O60895 http://www.uniprot.org/uniprot/O60895 charge swissprot:RAMP2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:RAMP2_HUMAN eggNOG ENOG410IYPR http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IYPR eggNOG ENOG4112A9G http://eggnogapi.embl.de/nog_data/html/tree/ENOG4112A9G epestfind swissprot:RAMP2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:RAMP2_HUMAN garnier swissprot:RAMP2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:RAMP2_HUMAN helixturnhelix swissprot:RAMP2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:RAMP2_HUMAN hmoment swissprot:RAMP2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:RAMP2_HUMAN iep swissprot:RAMP2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:RAMP2_HUMAN inforesidue swissprot:RAMP2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:RAMP2_HUMAN neXtProt NX_O60895 http://www.nextprot.org/db/entry/NX_O60895 octanol swissprot:RAMP2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:RAMP2_HUMAN pepcoil swissprot:RAMP2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:RAMP2_HUMAN pepdigest swissprot:RAMP2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:RAMP2_HUMAN pepinfo swissprot:RAMP2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:RAMP2_HUMAN pepnet swissprot:RAMP2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:RAMP2_HUMAN pepstats swissprot:RAMP2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:RAMP2_HUMAN pepwheel swissprot:RAMP2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:RAMP2_HUMAN pepwindow swissprot:RAMP2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:RAMP2_HUMAN sigcleave swissprot:RAMP2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:RAMP2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S13A5_HUMAN Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q86YT5-1; Sequence=Displayed; Name=2; IsoId=Q86YT5-2; Sequence=VSP_043098; Note=No experimental confirmation available.; Name=3; IsoId=Q86YT5-3; Sequence=VSP_054910; Note=No experimental confirmation available.; Name=4; IsoId=Q86YT5-4; Sequence=VSP_055652; Note=No experimental confirmation available.; # AltName S13A5_HUMAN Na(+)/citrate cotransporter # AltName S13A5_HUMAN Sodium-coupled citrate transporter # AltName S13A5_HUMAN Sodium-dependent citrate transporter # CCDS CCDS11079 -. [Q86YT5-1] # CCDS CCDS45593 -. [Q86YT5-2] # CCDS CCDS67136 -. [Q86YT5-4] # CCDS CCDS67137 -. [Q86YT5-3] # Ensembl ENST00000293800 ENSP00000293800; ENSG00000141485. [Q86YT5-3] # Ensembl ENST00000381074 ENSP00000370464; ENSG00000141485. [Q86YT5-4] # Ensembl ENST00000433363 ENSP00000406220; ENSG00000141485. [Q86YT5-1] # Ensembl ENST00000573648 ENSP00000459372; ENSG00000141485. [Q86YT5-2] # ExpressionAtlas Q86YT5 baseline and differential # FUNCTION S13A5_HUMAN High-affinity sodium/citrate cotransporter that mediates citrate entry into cells. The transport process is electrogenic; it is the trivalent form of citrate rather than the divalent form that is recognized as a substrate. May facilitate the utilization of circulating citrate for the generation of metabolic energy and for the synthesis of fatty acids and cholesterol. {ECO 0000269|PubMed 12445824}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_function GO:0015137 citrate transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015141 succinate transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015142 tricarboxylic acid transmembrane transporter activity; IEA:Ensembl. # GO_function S13A5_HUMAN GO 0017153 sodium dicarboxylate symporter activity; IBA GO_Central. # GO_process GO:0015746 citrate transport; IBA:GO_Central. # GO_process GO:0035674 tricarboxylic acid transmembrane transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0055085 transmembrane transport # Genevisible Q86YT5 HS # HGNC HGNC:23089 SLC13A5 # IntAct Q86YT5 11 # InterPro IPR001898 Na/sul_symport # InterPro IPR031312 Na/sul_symport_CS # KEGG_Brite ko02001 Solute carrier family # MIM 608305 gene # Organism S13A5_HUMAN Homo sapiens (Human) # Orphanet 1934 Early infantile epileptic encephalopathy # PROSITE PS01271 NA_SULFATE # Pfam PF00939 Na_sulph_symp # Proteomes UP000005640 Chromosome 17 # Reactome R-HSA-433137 Sodium-coupled sulphate, di- and tri-carboxylate transporters # RecName S13A5_HUMAN Solute carrier family 13 member 5 # RefSeq NP_001137310 NM_001143838.2. [Q86YT5-2] # RefSeq NP_001271438 NM_001284509.1. [Q86YT5-3] # RefSeq NP_001271439 NM_001284510.1. [Q86YT5-4] # RefSeq NP_808218 NM_177550.4. [Q86YT5-1] # SIMILARITY Belongs to the SLC13A/DASS transporter (TC 2.A.47) family. NADC subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION S13A5_HUMAN Membrane; Multi-pass membrane protein. # TCDB 2.A.47.1:the divalent anion na(+) symporter (dass) family # TISSUE SPECIFICITY Expressed most predominantly in the liver, with moderate expression detectable in the brain and testis. {ECO:0000269|PubMed 12445824}. # UCSC uc002gdj human. [Q86YT5-1] # eggNOG COG0471 LUCA # eggNOG KOG1281 Eukaryota BLAST swissprot:S13A5_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S13A5_HUMAN COG COG0471 http://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=COG0471 COXPRESdb 284111 http://coxpresdb.jp/data/gene/284111.shtml CleanEx HS_SLC13A5 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC13A5 DOI 10.1016/S0006-291X(02)02669-4 http://dx.doi.org/10.1016/S0006-291X(02)02669-4 DOI 10.1021/pr8008012 http://dx.doi.org/10.1021/pr8008012 DOI 10.1038/nature04689 http://dx.doi.org/10.1038/nature04689 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AC004706 http://www.ebi.ac.uk/ena/data/view/AC004706 EMBL AK127797 http://www.ebi.ac.uk/ena/data/view/AK127797 EMBL AK172785 http://www.ebi.ac.uk/ena/data/view/AK172785 EMBL AK297612 http://www.ebi.ac.uk/ena/data/view/AK297612 EMBL AY151833 http://www.ebi.ac.uk/ena/data/view/AY151833 EMBL BC104795 http://www.ebi.ac.uk/ena/data/view/BC104795 EMBL BC112151 http://www.ebi.ac.uk/ena/data/view/BC112151 EMBL BC143689 http://www.ebi.ac.uk/ena/data/view/BC143689 EMBL CH471108 http://www.ebi.ac.uk/ena/data/view/CH471108 Ensembl ENST00000293800 http://www.ensembl.org/id/ENST00000293800 Ensembl ENST00000381074 http://www.ensembl.org/id/ENST00000381074 Ensembl ENST00000433363 http://www.ensembl.org/id/ENST00000433363 Ensembl ENST00000573648 http://www.ensembl.org/id/ENST00000573648 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0015137 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015137 GO_function GO:0015141 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015141 GO_function GO:0015142 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015142 GO_function GO:0017153 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0017153 GO_process GO:0015746 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015746 GO_process GO:0035674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035674 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC13A5 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC13A5 GeneID 284111 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=284111 GeneTree ENSGT00550000074480 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074480 HGNC HGNC:23089 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:23089 HOGENOM HOG000278432 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000278432&db=HOGENOM6 HOVERGEN HBG055339 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG055339&db=HOVERGEN HPA HPA044343 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA044343 HPA HPA057088 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA057088 InParanoid Q86YT5 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q86YT5 IntAct Q86YT5 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q86YT5* InterPro IPR001898 http://www.ebi.ac.uk/interpro/entry/IPR001898 InterPro IPR031312 http://www.ebi.ac.uk/interpro/entry/IPR031312 Jabion 284111 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=284111 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:284111 http://www.genome.jp/dbget-bin/www_bget?hsa:284111 KEGG_Orthology KO:K14445 http://www.genome.jp/dbget-bin/www_bget?KO:K14445 MIM 608305 http://www.ncbi.nlm.nih.gov/omim/608305 OMA FFANHWK http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=FFANHWK Orphanet 1934 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1934 OrthoDB EOG091G092X http://cegg.unige.ch/orthodb/results?searchtext=EOG091G092X PROSITE PS01271 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS01271 PSORT swissprot:S13A5_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S13A5_HUMAN PSORT-B swissprot:S13A5_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S13A5_HUMAN PSORT2 swissprot:S13A5_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S13A5_HUMAN Pfam PF00939 http://pfam.xfam.org/family/PF00939 PharmGKB PA134950956 http://www.pharmgkb.org/do/serve?objId=PA134950956&objCls=Gene Phobius swissprot:S13A5_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S13A5_HUMAN PhylomeDB Q86YT5 http://phylomedb.org/?seqid=Q86YT5 ProteinModelPortal Q86YT5 http://www.proteinmodelportal.org/query/uniprot/Q86YT5 PubMed 12445824 http://www.ncbi.nlm.nih.gov/pubmed/12445824 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16625196 http://www.ncbi.nlm.nih.gov/pubmed/16625196 PubMed 19159218 http://www.ncbi.nlm.nih.gov/pubmed/19159218 Reactome R-HSA-433137 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-433137 RefSeq NP_001137310 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001137310 RefSeq NP_001271438 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001271438 RefSeq NP_001271439 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001271439 RefSeq NP_808218 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_808218 STRING 9606.ENSP00000406220 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000406220&targetmode=cogs STRING COG0471 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=COG0471&targetmode=cogs TCDB 2.A.47.1 http://www.tcdb.org/search/result.php?tc=2.A.47.1 UCSC uc002gdj http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002gdj&org=rat UniGene Hs.399496 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.399496 UniProtKB S13A5_HUMAN http://www.uniprot.org/uniprot/S13A5_HUMAN UniProtKB-AC Q86YT5 http://www.uniprot.org/uniprot/Q86YT5 charge swissprot:S13A5_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S13A5_HUMAN eggNOG COG0471 http://eggnogapi.embl.de/nog_data/html/tree/COG0471 eggNOG KOG1281 http://eggnogapi.embl.de/nog_data/html/tree/KOG1281 epestfind swissprot:S13A5_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S13A5_HUMAN garnier swissprot:S13A5_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S13A5_HUMAN helixturnhelix swissprot:S13A5_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S13A5_HUMAN hmoment swissprot:S13A5_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S13A5_HUMAN iep swissprot:S13A5_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S13A5_HUMAN inforesidue swissprot:S13A5_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S13A5_HUMAN neXtProt NX_Q86YT5 http://www.nextprot.org/db/entry/NX_Q86YT5 octanol swissprot:S13A5_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S13A5_HUMAN pepcoil swissprot:S13A5_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S13A5_HUMAN pepdigest swissprot:S13A5_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S13A5_HUMAN pepinfo swissprot:S13A5_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S13A5_HUMAN pepnet swissprot:S13A5_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S13A5_HUMAN pepstats swissprot:S13A5_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S13A5_HUMAN pepwheel swissprot:S13A5_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S13A5_HUMAN pepwindow swissprot:S13A5_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S13A5_HUMAN sigcleave swissprot:S13A5_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S13A5_HUMAN ## Database ID URL or Descriptions # BioGrid 106999 37 # CDD cd12153 F1-ATPase_epsilon # ChiTaRS ATP5E human # DISEASE ATP5E_HUMAN Mitochondrial complex V deficiency, nuclear 3 (MC5DN3) [MIM 614053] A mitochondrial disorder with heterogeneous clinical manifestations including dysmorphic features, psychomotor retardation, hypotonia, growth retardation, cardiomyopathy, enlarged liver, hypoplastic kidneys and elevated lactate levels in urine, plasma and cerebrospinal fluid. {ECO 0000269|PubMed 20566710}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000243997 ENSP00000243997; ENSG00000124172 # Ensembl ENST00000395659 ENSP00000379019; ENSG00000124172 # Ensembl ENST00000395663 ENSP00000379023; ENSG00000124172 # FUNCTION ATP5E_HUMAN Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(1) domain and of the central stalk which is part of the complex rotary element. Rotation of the central stalk against the surrounding alpha(3)beta(3) subunits leads to hydrolysis of ATP in three separate catalytic sites on the beta subunits (By similarity). {ECO 0000250}. # GO_component GO:0000275 mitochondrial proton-transporting ATP synthase complex, catalytic core F(1); IMP:CACAO. # GO_component GO:0005753 mitochondrial proton-transporting ATP synthase complex; IDA:UniProtKB. # GO_component GO:0005759 mitochondrial matrix; TAS:Reactome. # GO_function GO:0022857 transmembrane transporter activity; IC:UniProtKB. # GO_function GO:0046933 proton-transporting ATP synthase activity, rotational mechanism; IEA:InterPro. # GO_process GO:0006754 ATP biosynthetic process; TAS:Reactome. # GO_process GO:0042776 mitochondrial ATP synthesis coupled proton transport; IC:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0043234 protein complex # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0044281 small molecule metabolic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.10.1620.20 -; 1. # Genevisible P56381 HS # HGNC HGNC:838 ATP5E # IntAct P56381 7 # InterPro IPR006721 ATP_synth_F1_esu_mt # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Brite ko01000 Enzymes # KEGG_Disease H01369 [Inherited metabolic disease; Mitochondrial disease] Mitochondrial infantile bilateral striatal necrosis (MIBSN) # KEGG_Pathway ko00190 Oxidative phosphorylation # KEGG_Pathway ko05010 Alzheimer's disease # KEGG_Pathway ko05012 Parkinson's disease # KEGG_Pathway ko05016 Huntington's disease # MIM 606153 gene # MIM 614053 phenotype # Organism ATP5E_HUMAN Homo sapiens (Human) # Orphanet 254913 Isolated ATP synthase deficiency # PANTHER PTHR12448 PTHR12448 # Pfam PF04627 ATP-synt_Eps # Proteomes UP000005640 Chromosome 20 # Reactome R-HSA-163210 Formation of ATP by chemiosmotic coupling # RecName ATP5E_HUMAN ATP synthase subunit epsilon, mitochondrial # RefSeq NP_008817 NM_006886.3 # SIMILARITY Belongs to the eukaryotic ATPase epsilon family. {ECO 0000305}. # SUBCELLULAR LOCATION ATP5E_HUMAN Mitochondrion. Mitochondrion inner membrane. # SUBUNIT F-type ATPases have 2 components, CF(1) - the catalytic core - and CF(0) - the membrane proton channel. CF(1) has five subunits: alpha(3), beta(3), gamma(1), delta(1), epsilon(1). CF(0) seems to have nine subunits a, b, c, d, e, f, g, F6 and 8 (or A6L). Component of an ATP synthase complex composed of ATP5F1, ATP5G1, ATP5E, ATP5H, ATP5I, ATP5J, ATP5J2, MT-ATP6, MT-ATP8, ATP5A1, ATP5B, ATP5D, ATP5C1, ATP5O, ATP5L, USMG5 and MP68 (By similarity). {ECO:0000250}. # SUPFAM SSF48690 SSF48690 # TISSUE SPECIFICITY ATP5E_HUMAN Ubiquitous. # UCSC uc002yal human # eggNOG ENOG410Y5P5 LUCA # eggNOG KOG3495 Eukaryota BLAST swissprot:ATP5E_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ATP5E_HUMAN BioCyc ZFISH:HS04727-MONOMER http://biocyc.org/getid?id=ZFISH:HS04727-MONOMER COXPRESdb 514 http://coxpresdb.jp/data/gene/514.shtml CleanEx HS_ATP5E http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ATP5E DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1038/414865a http://dx.doi.org/10.1038/414865a DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1042/bj3470017 http://dx.doi.org/10.1042/bj3470017 DOI 10.1073/pnas.160270997 http://dx.doi.org/10.1073/pnas.160270997 DOI 10.1093/hmg/ddq254 http://dx.doi.org/10.1093/hmg/ddq254 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1175371 http://dx.doi.org/10.1126/science.1175371 EMBL AF052955 http://www.ebi.ac.uk/ena/data/view/AF052955 EMBL AF077045 http://www.ebi.ac.uk/ena/data/view/AF077045 EMBL AK315493 http://www.ebi.ac.uk/ena/data/view/AK315493 EMBL AL109840 http://www.ebi.ac.uk/ena/data/view/AL109840 EMBL BC001690 http://www.ebi.ac.uk/ena/data/view/BC001690 EMBL BC003671 http://www.ebi.ac.uk/ena/data/view/BC003671 EMBL BC105811 http://www.ebi.ac.uk/ena/data/view/BC105811 EMBL BT007293 http://www.ebi.ac.uk/ena/data/view/BT007293 EMBL CH471077 http://www.ebi.ac.uk/ena/data/view/CH471077 EMBL CH471077 http://www.ebi.ac.uk/ena/data/view/CH471077 Ensembl ENST00000243997 http://www.ensembl.org/id/ENST00000243997 Ensembl ENST00000395659 http://www.ensembl.org/id/ENST00000395659 Ensembl ENST00000395663 http://www.ensembl.org/id/ENST00000395663 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000275 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000275 GO_component GO:0005753 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005753 GO_component GO:0005759 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005759 GO_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GO_function GO:0046933 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046933 GO_process GO:0006754 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006754 GO_process GO:0042776 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042776 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.10.1620.20 http://www.cathdb.info/version/latest/superfamily/1.10.1620.20 GeneCards ATP5E http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ATP5E GeneID 514 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=514 GeneTree ENSGT00390000015470 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000015470 HGNC HGNC:838 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:838 HOGENOM HOG000214506 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000214506&db=HOGENOM6 HOVERGEN HBG050611 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050611&db=HOVERGEN HPA HPA042142 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA042142 InParanoid P56381 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P56381 IntAct P56381 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P56381* InterPro IPR006721 http://www.ebi.ac.uk/interpro/entry/IPR006721 Jabion 514 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=514 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00002 http://www.genome.jp/dbget-bin/www_bget?ko00002 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Disease H01369 http://www.genome.jp/dbget-bin/www_bget?H01369 KEGG_Gene hsa:514 http://www.genome.jp/dbget-bin/www_bget?hsa:514 KEGG_Orthology KO:K02135 http://www.genome.jp/dbget-bin/www_bget?KO:K02135 KEGG_Pathway ko00190 http://www.genome.jp/kegg-bin/show_pathway?ko00190 KEGG_Pathway ko05010 http://www.genome.jp/kegg-bin/show_pathway?ko05010 KEGG_Pathway ko05012 http://www.genome.jp/kegg-bin/show_pathway?ko05012 KEGG_Pathway ko05016 http://www.genome.jp/kegg-bin/show_pathway?ko05016 MIM 606153 http://www.ncbi.nlm.nih.gov/omim/606153 MIM 614053 http://www.ncbi.nlm.nih.gov/omim/614053 MINT MINT-3021407 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-3021407 OMA SATRKCL http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=SATRKCL Orphanet 254913 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=254913 OrthoDB EOG091G16RI http://cegg.unige.ch/orthodb/results?searchtext=EOG091G16RI PANTHER PTHR12448 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12448 PSORT swissprot:ATP5E_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ATP5E_HUMAN PSORT-B swissprot:ATP5E_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ATP5E_HUMAN PSORT2 swissprot:ATP5E_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ATP5E_HUMAN Pfam PF04627 http://pfam.xfam.org/family/PF04627 PharmGKB PA25128 http://www.pharmgkb.org/do/serve?objId=PA25128&objCls=Gene Phobius swissprot:ATP5E_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ATP5E_HUMAN PhylomeDB P56381 http://phylomedb.org/?seqid=P56381 ProteinModelPortal P56381 http://www.proteinmodelportal.org/query/uniprot/P56381 PubMed 10727396 http://www.ncbi.nlm.nih.gov/pubmed/10727396 PubMed 10931946 http://www.ncbi.nlm.nih.gov/pubmed/10931946 PubMed 11780052 http://www.ncbi.nlm.nih.gov/pubmed/11780052 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 19608861 http://www.ncbi.nlm.nih.gov/pubmed/19608861 PubMed 20566710 http://www.ncbi.nlm.nih.gov/pubmed/20566710 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 Reactome R-HSA-163210 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-163210 RefSeq NP_008817 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_008817 SMR P56381 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P56381 STRING 9606.ENSP00000243997 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000243997&targetmode=cogs SUPFAM SSF48690 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48690 UCSC uc002yal http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002yal&org=rat UniGene Hs.177530 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.177530 UniProtKB ATP5E_HUMAN http://www.uniprot.org/uniprot/ATP5E_HUMAN UniProtKB-AC P56381 http://www.uniprot.org/uniprot/P56381 charge swissprot:ATP5E_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ATP5E_HUMAN eggNOG ENOG410Y5P5 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410Y5P5 eggNOG KOG3495 http://eggnogapi.embl.de/nog_data/html/tree/KOG3495 epestfind swissprot:ATP5E_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ATP5E_HUMAN garnier swissprot:ATP5E_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ATP5E_HUMAN helixturnhelix swissprot:ATP5E_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ATP5E_HUMAN hmoment swissprot:ATP5E_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ATP5E_HUMAN iep swissprot:ATP5E_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ATP5E_HUMAN inforesidue swissprot:ATP5E_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ATP5E_HUMAN neXtProt NX_P56381 http://www.nextprot.org/db/entry/NX_P56381 octanol swissprot:ATP5E_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ATP5E_HUMAN pepcoil swissprot:ATP5E_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ATP5E_HUMAN pepdigest swissprot:ATP5E_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ATP5E_HUMAN pepinfo swissprot:ATP5E_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ATP5E_HUMAN pepnet swissprot:ATP5E_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ATP5E_HUMAN pepstats swissprot:ATP5E_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ATP5E_HUMAN pepwheel swissprot:ATP5E_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ATP5E_HUMAN pepwindow swissprot:ATP5E_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ATP5E_HUMAN sigcleave swissprot:ATP5E_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ATP5E_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS MAL_HUMAN Event=Alternative splicing; Named isoforms=4; Name=A; IsoId=P21145-1; Sequence=Displayed; Name=B; IsoId=P21145-2; Sequence=VSP_003164; Name=C; IsoId=P21145-3; Sequence=VSP_003163; Name=D; IsoId=P21145-4; Sequence=VSP_003162; # AltName MAL_HUMAN T-lymphocyte maturation-associated protein # BioGrid 110292 9 # CCDS CCDS2006 -. [P21145-1] # CCDS CCDS2007 -. [P21145-2] # CCDS CCDS2008 -. [P21145-3] # CCDS CCDS2009 -. [P21145-4] # ChiTaRS MAL human # DEVELOPMENTAL STAGE MAL_HUMAN Expressed in the intermediate and late stages of T-cell differentiation. # Ensembl ENST00000309988 ENSP00000310880; ENSG00000172005. [P21145-1] # Ensembl ENST00000349807 ENSP00000322860; ENSG00000172005. [P21145-4] # Ensembl ENST00000353004 ENSP00000306568; ENSG00000172005. [P21145-2] # Ensembl ENST00000354078 ENSP00000304924; ENSG00000172005. [P21145-3] # ExpressionAtlas P21145 baseline and differential # FUNCTION MAL_HUMAN Could be an important component in vesicular trafficking cycling between the Golgi complex and the apical plasma membrane. Could be involved in myelin biogenesis and/or myelin function. # GO_component GO:0005768 endosome; TAS:ProtInc. # GO_component GO:0005783 endoplasmic reticulum; IDA:UniProtKB. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0016324 apical plasma membrane; TAS:UniProtKB. # GO_component GO:0019898 extrinsic component of membrane; IEA:Ensembl. # GO_component GO:0045121 membrane raft; IDA:UniProtKB. # GO_function GO:0008289 lipid binding; TAS:UniProtKB. # GO_function GO:0015267 channel activity; TAS:ProtInc. # GO_function GO:0016505 peptidase activator activity involved in apoptotic process; NAS:UniProtKB. # GO_function GO:0019911 structural constituent of myelin sheath; IDA:UniProtKB. # GO_process GO:0001766 membrane raft polarization; TAS:UniProtKB. # GO_process GO:0006915 apoptotic process; NAS:UniProtKB. # GO_process GO:0007417 central nervous system development; TAS:UniProtKB. # GO_process GO:0030154 cell differentiation; TAS:UniProtKB. # GO_process GO:0042552 myelination; NAS:UniProtKB. # GO_process GO:0045176 apical protein localization; TAS:UniProtKB. # GO_process GO:1902043 positive regulation of extrinsic apoptotic signaling pathway via death domain receptors; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005768 endosome # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_function GO:0005198 structural molecule activity # GOslim_function GO:0008289 lipid binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0030234 enzyme regulator activity # GOslim_process GO:0008150 biological_process # GOslim_process GO:0008219 cell death # GOslim_process GO:0030154 cell differentiation # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0061024 membrane organization # Genevisible P21145 HS # HGNC HGNC:6817 MAL # INTERACTION MAL_HUMAN Q06187 BTK; NbExp=5; IntAct=EBI-3932027, EBI-624835; Q92838 EDA; NbExp=3; IntAct=EBI-3932027, EBI-529425; Q8N539 FIBCD1; NbExp=5; IntAct=EBI-3932027, EBI-10200808; P26715 KLRC1; NbExp=3; IntAct=EBI-3932027, EBI-9018187; Q5T700 LDLRAD1; NbExp=5; IntAct=EBI-3932027, EBI-10173166; Q8N8F7 LSMEM1; NbExp=3; IntAct=EBI-3932027, EBI-10200825; Q16849-3 PTPRN; NbExp=3; IntAct=EBI-3932027, EBI-10200782; Q9BZL3 SMIM3; NbExp=5; IntAct=EBI-3932027, EBI-741850; Q93009 USP7; NbExp=3; IntAct=EBI-3932027, EBI-302474; # IntAct P21145 20 # InterPro IPR008253 Marvel # InterPro IPR013295 MAL # MIM 188860 gene # Organism MAL_HUMAN Homo sapiens (Human) # PIR A29472 A29472 # PRINTS PR01884 MALPROTEIN # PROSITE PS51225 MARVEL # PTM MAL_HUMAN Lipoprotein. # Pfam PF01284 MARVEL # Proteomes UP000005640 Chromosome 2 # RecName MAL_HUMAN Myelin and lymphocyte protein # RefSeq NP_002362 NM_002371.3. [P21145-1] # RefSeq NP_071883 NM_022438.2. [P21145-2] # RefSeq NP_071884 NM_022439.2. [P21145-3] # RefSeq NP_071885 NM_022440.2. [P21145-4] # SIMILARITY Belongs to the MAL family. {ECO 0000305}. # SIMILARITY Contains 1 MARVEL domain. {ECO:0000255|PROSITE- ProRule PRU00581}. # SUBCELLULAR LOCATION MAL_HUMAN Membrane; Multi-pass membrane protein. # UCSC uc002stx human. [P21145-1] # WEB RESOURCE MAL_HUMAN Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http //atlasgeneticsoncology.org/Genes/MALID46222ch2q11.html"; # eggNOG ENOG4111IAF LUCA # eggNOG KOG4788 Eukaryota BLAST swissprot:MAL_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:MAL_HUMAN BioCyc ZFISH:ENSG00000172005-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000172005-MONOMER COXPRESdb 4118 http://coxpresdb.jp/data/gene/4118.shtml CleanEx HS_MAL http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_MAL DOI 10.1006/geno.1994.1294 http://dx.doi.org/10.1006/geno.1994.1294 DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.84.7.1997 http://dx.doi.org/10.1073/pnas.84.7.1997 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AC103563 http://www.ebi.ac.uk/ena/data/view/AC103563 EMBL AK311844 http://www.ebi.ac.uk/ena/data/view/AK311844 EMBL BC000458 http://www.ebi.ac.uk/ena/data/view/BC000458 EMBL BC003006 http://www.ebi.ac.uk/ena/data/view/BC003006 EMBL CH471219 http://www.ebi.ac.uk/ena/data/view/CH471219 EMBL CR541879 http://www.ebi.ac.uk/ena/data/view/CR541879 EMBL M15800 http://www.ebi.ac.uk/ena/data/view/M15800 EMBL X76220 http://www.ebi.ac.uk/ena/data/view/X76220 EMBL X76221 http://www.ebi.ac.uk/ena/data/view/X76221 EMBL X76222 http://www.ebi.ac.uk/ena/data/view/X76222 EMBL X76223 http://www.ebi.ac.uk/ena/data/view/X76223 EMBL X76678 http://www.ebi.ac.uk/ena/data/view/X76678 EMBL X76679 http://www.ebi.ac.uk/ena/data/view/X76679 EMBL X76680 http://www.ebi.ac.uk/ena/data/view/X76680 EMBL X76681 http://www.ebi.ac.uk/ena/data/view/X76681 Ensembl ENST00000309988 http://www.ensembl.org/id/ENST00000309988 Ensembl ENST00000349807 http://www.ensembl.org/id/ENST00000349807 Ensembl ENST00000353004 http://www.ensembl.org/id/ENST00000353004 Ensembl ENST00000354078 http://www.ensembl.org/id/ENST00000354078 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GO_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:0019898 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019898 GO_component GO:0045121 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045121 GO_function GO:0008289 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008289 GO_function GO:0015267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015267 GO_function GO:0016505 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016505 GO_function GO:0019911 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019911 GO_process GO:0001766 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001766 GO_process GO:0006915 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006915 GO_process GO:0007417 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007417 GO_process GO:0030154 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030154 GO_process GO:0042552 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042552 GO_process GO:0045176 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045176 GO_process GO:1902043 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902043 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_function GO:0005198 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005198 GOslim_function GO:0008289 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008289 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0030234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030234 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0008219 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008219 GOslim_process GO:0030154 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030154 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0061024 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061024 GeneCards MAL http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=MAL GeneID 4118 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=4118 GeneTree ENSGT00730000110762 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00730000110762 H-InvDB HIX0117680 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0117680 H-InvDB HIX0117687 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0117687 HGNC HGNC:6817 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6817 HOGENOM HOG000231752 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231752&db=HOGENOM6 HOVERGEN HBG000925 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG000925&db=HOVERGEN HPA HPA065691 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA065691 InParanoid P21145 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P21145 IntAct P21145 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P21145* InterPro IPR008253 http://www.ebi.ac.uk/interpro/entry/IPR008253 InterPro IPR013295 http://www.ebi.ac.uk/interpro/entry/IPR013295 Jabion 4118 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=4118 KEGG_Gene hsa:4118 http://www.genome.jp/dbget-bin/www_bget?hsa:4118 MIM 188860 http://www.ncbi.nlm.nih.gov/omim/188860 OMA VPIPLIQ http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=VPIPLIQ OrthoDB EOG091G0OS1 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0OS1 PRINTS PR01884 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01884 PROSITE PS51225 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51225 PSORT swissprot:MAL_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:MAL_HUMAN PSORT-B swissprot:MAL_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:MAL_HUMAN PSORT2 swissprot:MAL_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:MAL_HUMAN Pfam PF01284 http://pfam.xfam.org/family/PF01284 PharmGKB PA30565 http://www.pharmgkb.org/do/serve?objId=PA30565&objCls=Gene Phobius swissprot:MAL_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:MAL_HUMAN PhylomeDB P21145 http://phylomedb.org/?seqid=P21145 ProteinModelPortal P21145 http://www.proteinmodelportal.org/query/uniprot/P21145 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 PubMed 3494249 http://www.ncbi.nlm.nih.gov/pubmed/3494249 PubMed 8088843 http://www.ncbi.nlm.nih.gov/pubmed/8088843 PubMed 8132541 http://www.ncbi.nlm.nih.gov/pubmed/8132541 RefSeq NP_002362 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_002362 RefSeq NP_071883 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_071883 RefSeq NP_071884 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_071884 RefSeq NP_071885 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_071885 STRING 9606.ENSP00000310880 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000310880&targetmode=cogs UCSC uc002stx http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002stx&org=rat UniGene Hs.80395 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.80395 UniProtKB MAL_HUMAN http://www.uniprot.org/uniprot/MAL_HUMAN UniProtKB-AC P21145 http://www.uniprot.org/uniprot/P21145 charge swissprot:MAL_HUMAN http://rest.g-language.org/emboss/charge/swissprot:MAL_HUMAN eggNOG ENOG4111IAF http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111IAF eggNOG KOG4788 http://eggnogapi.embl.de/nog_data/html/tree/KOG4788 epestfind swissprot:MAL_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:MAL_HUMAN garnier swissprot:MAL_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:MAL_HUMAN helixturnhelix swissprot:MAL_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:MAL_HUMAN hmoment swissprot:MAL_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:MAL_HUMAN iep swissprot:MAL_HUMAN http://rest.g-language.org/emboss/iep/swissprot:MAL_HUMAN inforesidue swissprot:MAL_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:MAL_HUMAN neXtProt NX_P21145 http://www.nextprot.org/db/entry/NX_P21145 octanol swissprot:MAL_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:MAL_HUMAN pepcoil swissprot:MAL_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:MAL_HUMAN pepdigest swissprot:MAL_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:MAL_HUMAN pepinfo swissprot:MAL_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:MAL_HUMAN pepnet swissprot:MAL_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:MAL_HUMAN pepstats swissprot:MAL_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:MAL_HUMAN pepwheel swissprot:MAL_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:MAL_HUMAN pepwindow swissprot:MAL_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:MAL_HUMAN sigcleave swissprot:MAL_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:MAL_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS ANO6_HUMAN Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q4KMQ2-1; Sequence=Displayed; Name=2; IsoId=Q4KMQ2-2; Sequence=VSP_042893; Note=No experimental confirmation available.; Name=3; IsoId=Q4KMQ2-3; Sequence=VSP_046819; Note=Gene prediction based on EST data.; Name=4; IsoId=Q4KMQ2-4; Sequence=VSP_046820; Note=Gene prediction based on EST data.; # AltName ANO6_HUMAN Small-conductance calcium-activated nonselective cation channel # AltName ANO6_HUMAN Transmembrane protein 16F # BioGrid 128218 28 # CCDS CCDS31782 -. [Q4KMQ2-1] # CCDS CCDS44865 -. [Q4KMQ2-4] # CCDS CCDS44866 -. [Q4KMQ2-3] # CCDS CCDS55819 -. [Q4KMQ2-2] # ChiTaRS ANO6 human # DISEASE ANO6_HUMAN Scott syndrome (SCTS) [MIM 262890] A mild bleeding disorder due to impaired surface exposure of procoagulant phosphatidylserine (PS) on platelets and other blood cells, following activation with Ca(2+)-elevating agents. {ECO 0000269|PubMed 21107324}. Note=The disease is caused by mutations affecting the gene represented in this entry. # ENZYME REGULATION Exhibits synergistic gating by Ca(2+) and voltage. Inhibited by some non-specific cation channel blockers such as: ruthenium red, 2-aminoethyl diphenylborinate (2APB), gadolinium and cadmium ions (By similarity). {ECO 0000250}. # Ensembl ENST00000320560 ENSP00000320087; ENSG00000177119. [Q4KMQ2-1] # Ensembl ENST00000423947 ENSP00000409126; ENSG00000177119. [Q4KMQ2-2] # Ensembl ENST00000425752 ENSP00000391417; ENSG00000177119. [Q4KMQ2-4] # Ensembl ENST00000441606 ENSP00000413137; ENSG00000177119. [Q4KMQ2-3] # ExpressionAtlas Q4KMQ2 baseline and differential # FUNCTION ANO6_HUMAN Small-conductance calcium-activated nonselective cation (SCAN) channel which acts as a regulator of phospholipid scrambling in platelets and osteoblasts. Phospholipid scrambling results in surface exposure of phosphatidylserine which in platelets is essential to trigger the clotting system whereas in osteoblasts is essential for the deposition of hydroxyapatite during bone mineralization. Has calcium-dependent phospholipid scramblase activity; scrambles phosphatidylserine, phosphatidylcholine and galactosylceramide (By similarity). Can generate outwardly rectifying chloride channel currents in airway epithelial cells and Jurkat T lymphocytes. {ECO 0000250|UniProtKB Q6P9J9, ECO 0000269|PubMed 20056604, ECO 0000269|PubMed 21107324, ECO 0000269|PubMed 21908539, ECO 0000269|PubMed 22006324, ECO 0000269|PubMed 22946059}. # GO_component GO:0005622 intracellular; IDA:UniProtKB. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0009986 cell surface; IDA:UniProtKB. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0034707 chloride channel complex; IDA:UniProtKB. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0005227 calcium activated cation channel activity; IDA:UniProtKB. # GO_function GO:0005229 intracellular calcium activated chloride channel activity; IMP:UniProtKB. # GO_function GO:0005244 voltage-gated ion channel activity; ISS:UniProtKB. # GO_function GO:0005247 voltage-gated chloride channel activity; IMP:UniProtKB. # GO_function GO:0017128 phospholipid scramblase activity; IEA:Ensembl. # GO_process GO:0002407 dendritic cell chemotaxis; IEA:Ensembl. # GO_process GO:0002543 activation of blood coagulation via clotting cascade; IMP:UniProtKB. # GO_process GO:0006812 cation transport; IDA:UniProtKB. # GO_process GO:0006821 chloride transport; IMP:UniProtKB. # GO_process GO:0007596 blood coagulation; ISS:UniProtKB. # GO_process GO:0017121 phospholipid scrambling; IMP:UniProtKB. # GO_process GO:0030501 positive regulation of bone mineralization; IMP:UniProtKB. # GO_process GO:0032060 bleb assembly; IMP:UniProtKB. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0034767 positive regulation of ion transmembrane transport; IMP:UniProtKB. # GO_process GO:0035590 purinergic nucleotide receptor signaling pathway; IMP:UniProtKB. # GO_process GO:0035630 bone mineralization involved in bone maturation; IEA:Ensembl. # GO_process GO:0035725 sodium ion transmembrane transport; IGI:UniProtKB. # GO_process GO:0043065 positive regulation of apoptotic process; ISS:UniProtKB. # GO_process GO:0045794 negative regulation of cell volume; IMP:UniProtKB. # GO_process GO:0046931 pore complex assembly; IMP:UniProtKB. # GO_process GO:0060100 positive regulation of phagocytosis, engulfment; ISS:UniProtKB. # GO_process GO:0061589 calcium activated phosphatidylserine scrambling; IEA:Ensembl. # GO_process GO:0061590 calcium activated phosphatidylcholine scrambling; IEA:Ensembl. # GO_process GO:0061591 calcium activated galactosylceramide scrambling; IEA:Ensembl. # GO_process GO:0070588 calcium ion transmembrane transport; IGI:UniProtKB. # GO_process GO:0090026 positive regulation of monocyte chemotaxis; IMP:UniProtKB. # GO_process GO:0097045 phosphatidylserine exposure on blood platelet; IMP:UniProtKB. # GO_process GO:1902304 positive regulation of potassium ion export; ISS:BHF-UCL. # GO_process GO:1902476 chloride transmembrane transport; IGI:UniProtKB. # GO_process GO:2000353 positive regulation of endothelial cell apoptotic process; IMP:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005622 intracellular # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0002376 immune system process # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # GOslim_process GO:0007009 plasma membrane organization # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0022607 cellular component assembly # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0048870 cell motility # GOslim_process GO:0055085 transmembrane transport # Genevisible Q4KMQ2 HS # HGNC HGNC:25240 ANO6 # IntAct Q4KMQ2 6 # InterPro IPR007632 Anoctamin # InterPro IPR031295 Anoctamin-6 # InterPro IPR032394 Anoct_dimer # KEGG_Disease H01162 [Hematologic disease] Scott syndrome # MIM 262890 phenotype # MIM 608663 gene # MISCELLANEOUS ANO6_HUMAN The term 'anoctamin' was coined because these channels are anion selective and have eight (OCT) transmembrane segments. There is some dissatisfaction in the field with the Ano nomenclature because it is not certain that all the members of this family are anion channels or have the 8-transmembrane topology. # Organism ANO6_HUMAN Homo sapiens (Human) # Orphanet 806 Scott syndrome # PANTHER PTHR12308 PTHR12308 # PANTHER PTHR12308:SF21 PTHR12308:SF21 # Pfam PF04547 Anoctamin # Pfam PF16178 Anoct_dimer # Proteomes UP000005640 Chromosome 12 # Reactome R-HSA-2672351 Stimuli-sensing channels # Reactome R-HSA-6798695 Neutrophil degranulation # RecName ANO6_HUMAN Anoctamin-6 # RefSeq NP_001020527 NM_001025356.2. [Q4KMQ2-1] # RefSeq NP_001136150 NM_001142678.1. [Q4KMQ2-3] # RefSeq NP_001136151 NM_001142679.1. [Q4KMQ2-4] # RefSeq NP_001191732 NM_001204803.1. [Q4KMQ2-2] # SIMILARITY Belongs to the anoctamin family. {ECO 0000305}. # SUBCELLULAR LOCATION ANO6_HUMAN Cell membrane {ECO 0000269|PubMed 20056604, ECO 0000269|PubMed 21107324, ECO 0000269|PubMed 22075693, ECO 0000269|PubMed 22946059}; Multi-pass membrane protein {ECO 0000269|PubMed 20056604, ECO 0000269|PubMed 21107324, ECO 0000269|PubMed 22075693, ECO 0000269|PubMed 22946059}. Note=Shows an intracellular localization according to PubMed 22075693. # TCDB 1.A.17.1 the calcium-dependent chloride channel (ca-clc) family # TISSUE SPECIFICITY Expressed in embryonic stem cell, fetal liver, retina, chronic myologenous leukemia and intestinal cancer. {ECO:0000269|PubMed 15067359}. # UCSC uc001roo human. [Q4KMQ2-1] # eggNOG ENOG410XS4S LUCA # eggNOG KOG2514 Eukaryota BLAST swissprot:ANO6_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ANO6_HUMAN COXPRESdb 196527 http://coxpresdb.jp/data/gene/196527.shtml CleanEx HS_ANO6 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ANO6 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1007/s00424-011-0975-9 http://dx.doi.org/10.1007/s00424-011-0975-9 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/pr8008012 http://dx.doi.org/10.1021/pr8008012 DOI 10.1038/aps.2011.48 http://dx.doi.org/10.1038/aps.2011.48 DOI 10.1038/nature04569 http://dx.doi.org/10.1038/nature04569 DOI 10.1038/nature09583 http://dx.doi.org/10.1038/nature09583 DOI 10.1073/pnas.1108094108 http://dx.doi.org/10.1073/pnas.1108094108 DOI 10.1074/jbc.M109.065367 http://dx.doi.org/10.1074/jbc.M109.065367 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1113/expphysiol.2011.058198 http://dx.doi.org/10.1113/expphysiol.2011.058198 DOI 10.1113/expphysiol.2011.058206 http://dx.doi.org/10.1113/expphysiol.2011.058206 DOI 10.1113/expphysiol.2011.058214 http://dx.doi.org/10.1113/expphysiol.2011.058214 DOI 10.1152/ajpcell.00140.2011 http://dx.doi.org/10.1152/ajpcell.00140.2011 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 DOI 10.1242/jcs.109553 http://dx.doi.org/10.1242/jcs.109553 EMBL AC009248 http://www.ebi.ac.uk/ena/data/view/AC009248 EMBL AC009778 http://www.ebi.ac.uk/ena/data/view/AC009778 EMBL AC063924 http://www.ebi.ac.uk/ena/data/view/AC063924 EMBL AL833405 http://www.ebi.ac.uk/ena/data/view/AL833405 EMBL BC098410 http://www.ebi.ac.uk/ena/data/view/BC098410 EMBL BC136445 http://www.ebi.ac.uk/ena/data/view/BC136445 Ensembl ENST00000320560 http://www.ensembl.org/id/ENST00000320560 Ensembl ENST00000423947 http://www.ensembl.org/id/ENST00000423947 Ensembl ENST00000425752 http://www.ensembl.org/id/ENST00000425752 Ensembl ENST00000441606 http://www.ensembl.org/id/ENST00000441606 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005622 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005622 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0009986 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009986 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0034707 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034707 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0005227 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005227 GO_function GO:0005229 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005229 GO_function GO:0005244 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005244 GO_function GO:0005247 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005247 GO_function GO:0017128 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0017128 GO_process GO:0002407 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002407 GO_process GO:0002543 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002543 GO_process GO:0006812 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006812 GO_process GO:0006821 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006821 GO_process GO:0007596 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007596 GO_process GO:0017121 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0017121 GO_process GO:0030501 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030501 GO_process GO:0032060 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032060 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0034767 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034767 GO_process GO:0035590 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035590 GO_process GO:0035630 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035630 GO_process GO:0035725 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035725 GO_process GO:0043065 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043065 GO_process GO:0045794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045794 GO_process GO:0046931 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046931 GO_process GO:0060100 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060100 GO_process GO:0061589 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061589 GO_process GO:0061590 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061590 GO_process GO:0061591 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061591 GO_process GO:0070588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070588 GO_process GO:0090026 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090026 GO_process GO:0097045 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097045 GO_process GO:1902304 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902304 GO_process GO:1902476 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902476 GO_process GO:2000353 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000353 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005622 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005622 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0002376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002376 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007009 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007009 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0022607 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022607 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0048870 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048870 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards ANO6 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ANO6 GeneID 196527 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=196527 GeneTree ENSGT00760000119015 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119015 H-InvDB HIX0010565 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0010565 HGNC HGNC:25240 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:25240 HOGENOM HOG000006509 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000006509&db=HOGENOM6 HOVERGEN HBG069519 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG069519&db=HOVERGEN HPA HPA038958 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA038958 InParanoid Q4KMQ2 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q4KMQ2 IntAct Q4KMQ2 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q4KMQ2* InterPro IPR007632 http://www.ebi.ac.uk/interpro/entry/IPR007632 InterPro IPR031295 http://www.ebi.ac.uk/interpro/entry/IPR031295 InterPro IPR032394 http://www.ebi.ac.uk/interpro/entry/IPR032394 Jabion 196527 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=196527 KEGG_Disease H01162 http://www.genome.jp/dbget-bin/www_bget?H01162 KEGG_Gene hsa:196527 http://www.genome.jp/dbget-bin/www_bget?hsa:196527 MIM 262890 http://www.ncbi.nlm.nih.gov/omim/262890 MIM 608663 http://www.ncbi.nlm.nih.gov/omim/608663 MINT MINT-5001391 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-5001391 OMA KHNIYYW http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=KHNIYYW Orphanet 806 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=806 OrthoDB EOG091G01JF http://cegg.unige.ch/orthodb/results?searchtext=EOG091G01JF PANTHER PTHR12308 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12308 PANTHER PTHR12308:SF21 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12308:SF21 PSORT swissprot:ANO6_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ANO6_HUMAN PSORT-B swissprot:ANO6_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ANO6_HUMAN PSORT2 swissprot:ANO6_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ANO6_HUMAN Pfam PF04547 http://pfam.xfam.org/family/PF04547 Pfam PF16178 http://pfam.xfam.org/family/PF16178 PharmGKB PA164715690 http://www.pharmgkb.org/do/serve?objId=PA164715690&objCls=Gene Phobius swissprot:ANO6_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ANO6_HUMAN PhylomeDB Q4KMQ2 http://phylomedb.org/?seqid=Q4KMQ2 ProteinModelPortal Q4KMQ2 http://www.proteinmodelportal.org/query/uniprot/Q4KMQ2 PubMed 15067359 http://www.ncbi.nlm.nih.gov/pubmed/15067359 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16541075 http://www.ncbi.nlm.nih.gov/pubmed/16541075 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 PubMed 19159218 http://www.ncbi.nlm.nih.gov/pubmed/19159218 PubMed 20056604 http://www.ncbi.nlm.nih.gov/pubmed/20056604 PubMed 21107324 http://www.ncbi.nlm.nih.gov/pubmed/21107324 PubMed 21607626 http://www.ncbi.nlm.nih.gov/pubmed/21607626 PubMed 21642943 http://www.ncbi.nlm.nih.gov/pubmed/21642943 PubMed 21908539 http://www.ncbi.nlm.nih.gov/pubmed/21908539 PubMed 21984732 http://www.ncbi.nlm.nih.gov/pubmed/21984732 PubMed 22006324 http://www.ncbi.nlm.nih.gov/pubmed/22006324 PubMed 22075693 http://www.ncbi.nlm.nih.gov/pubmed/22075693 PubMed 22302790 http://www.ncbi.nlm.nih.gov/pubmed/22302790 PubMed 22946059 http://www.ncbi.nlm.nih.gov/pubmed/22946059 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 Reactome R-HSA-2672351 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2672351 Reactome R-HSA-6798695 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6798695 RefSeq NP_001020527 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001020527 RefSeq NP_001136150 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001136150 RefSeq NP_001136151 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001136151 RefSeq NP_001191732 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001191732 STRING 9606.ENSP00000409126 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000409126&targetmode=cogs TCDB 1.A.17.1 http://www.tcdb.org/search/result.php?tc=1.A.17.1 UCSC uc001roo http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001roo&org=rat UniGene Hs.505339 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.505339 UniProtKB ANO6_HUMAN http://www.uniprot.org/uniprot/ANO6_HUMAN UniProtKB-AC Q4KMQ2 http://www.uniprot.org/uniprot/Q4KMQ2 charge swissprot:ANO6_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ANO6_HUMAN eggNOG ENOG410XS4S http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XS4S eggNOG KOG2514 http://eggnogapi.embl.de/nog_data/html/tree/KOG2514 epestfind swissprot:ANO6_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ANO6_HUMAN garnier swissprot:ANO6_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ANO6_HUMAN helixturnhelix swissprot:ANO6_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ANO6_HUMAN hmoment swissprot:ANO6_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ANO6_HUMAN iep swissprot:ANO6_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ANO6_HUMAN inforesidue swissprot:ANO6_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ANO6_HUMAN neXtProt NX_Q4KMQ2 http://www.nextprot.org/db/entry/NX_Q4KMQ2 octanol swissprot:ANO6_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ANO6_HUMAN pepcoil swissprot:ANO6_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ANO6_HUMAN pepdigest swissprot:ANO6_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ANO6_HUMAN pepinfo swissprot:ANO6_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ANO6_HUMAN pepnet swissprot:ANO6_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ANO6_HUMAN pepstats swissprot:ANO6_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ANO6_HUMAN pepwheel swissprot:ANO6_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ANO6_HUMAN pepwindow swissprot:ANO6_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ANO6_HUMAN sigcleave swissprot:ANO6_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ANO6_HUMAN ## Database ID URL or Descriptions # AltName KCNJ4_HUMAN HIRK2 # AltName KCNJ4_HUMAN HRK1 # AltName KCNJ4_HUMAN Hippocampal inward rectifier # AltName KCNJ4_HUMAN Inward rectifier K(+) channel Kir2.3 # AltName KCNJ4_HUMAN Potassium channel, inwardly rectifying subfamily J member 4 # BioGrid 109963 10 # DOMAIN KCNJ4_HUMAN The Val/Gly/Ala/Pro stretch may have a functional role in the conductance or permeation properties. # Ensembl ENST00000303592 ENSP00000306497; ENSG00000168135 # ExpressionAtlas P48050 baseline and differential # FUNCTION KCNJ4_HUMAN Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by extracellular barium and cesium (By similarity). {ECO 0000250}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0008076 voltage-gated potassium channel complex; TAS:ProtInc. # GO_component GO:0016323 basolateral plasma membrane; IDA:UniProtKB. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0030659 cytoplasmic vesicle membrane; IEA:UniProtKB-SubCell. # GO_component GO:0045211 postsynaptic membrane; IEA:UniProtKB-SubCell. # GO_function GO:0005242 inward rectifier potassium channel activity; TAS:ProtInc. # GO_function GO:0015467 G-protein activated inward rectifier potassium channel activity; TAS:Reactome. # GO_function GO:0030165 PDZ domain binding; IPI:UniProtKB. # GO_process GO:0006813 potassium ion transport; TAS:ProtInc. # GO_process GO:0010107 potassium ion import; IBA:GO_Central. # GO_process GO:0061337 cardiac conduction; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0055085 transmembrane transport # Gene3D 2.60.40.1400 -; 1. # Genevisible P48050 HS # HGNC HGNC:6265 KCNJ4 # IntAct P48050 3 # InterPro IPR003273 K_chnl_inward-rec_Kir2.3 # InterPro IPR013518 K_chnl_inward-rec_Kir_cyto # InterPro IPR014756 Ig_E-set # InterPro IPR016449 K_chnl_inward-rec_Kir # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04725 Cholinergic synapse # MIM 600504 gene # Organism KCNJ4_HUMAN Homo sapiens (Human) # PANTHER PTHR11767 PTHR11767; 3 # PDB 3GJ9 X-ray; 2.80 A; C/D=436-445 # PIR A54852 A54852 # PIR I38521 I38521 # PIRSF PIRSF005465 GIRK_kir # PRINTS PR01320 KIRCHANNEL # PRINTS PR01326 KIR23CHANNEL # Pfam PF01007 IRK # Proteomes UP000005640 Chromosome 22 # Reactome R-HSA-1296041 Activation of G protein gated Potassium channels # Reactome R-HSA-1296053 Classical Kir channels # Reactome R-HSA-5576886 Phase 4 - resting membrane potential # Reactome R-HSA-997272 Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits # RecName KCNJ4_HUMAN Inward rectifier potassium channel 4 # RefSeq NP_004972 NM_004981.1 # RefSeq NP_690607 NM_152868.2 # SIMILARITY Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ4 subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION KCNJ4_HUMAN Cell membrane; Multi-pass membrane protein. Cell junction, synapse, postsynaptic cell membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. Cytoplasmic vesicle membrane {ECO 0000250}. Note=TAX1BP3 binding promotes dissociation of KCNJ4 from LIN7 famaly members and KCNJ4 internalization. {ECO 0000250}. # SUBUNIT KCNJ4_HUMAN Homomultimeric and heteromultimeric association with KCNJ2 and KCNJ12. Association, via its PDZ-recognition domain, with LIN7A, LIN7B, LIN7C, DLG1, CASK and APBA1 plays a key role in its localization and trafficking (By similarity). Interacts with TAX1BP3. TAX1BP3 competes with LIN7 family members for KCNJ4 binding. {ECO 0000250, ECO 0000269|PubMed 12032359, ECO 0000269|PubMed 19635485}. # SUPFAM SSF81296 SSF81296 # TISSUE SPECIFICITY KCNJ4_HUMAN Heart, skeletal muscle, and several different brain regions including the hippocampus. # UCSC uc003avt human # eggNOG ENOG410XQ62 LUCA # eggNOG KOG3827 Eukaryota BLAST swissprot:KCNJ4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCNJ4_HUMAN BioCyc ZFISH:ENSG00000168135-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000168135-MONOMER COXPRESdb 3761 http://coxpresdb.jp/data/gene/3761.shtml CleanEx HS_KCNJ4 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNJ4 DOI 10.1016/0014-5793(94)00612-1 http://dx.doi.org/10.1016/0014-5793(94)00612-1 DOI 10.1016/0896-6273(95)90103-5 http://dx.doi.org/10.1016/0896-6273(95)90103-5 DOI 10.1016/j.jmb.2009.07.060 http://dx.doi.org/10.1016/j.jmb.2009.07.060 DOI 10.1038/990031 http://dx.doi.org/10.1038/990031 DOI 10.1073/pnas.102609499 http://dx.doi.org/10.1073/pnas.102609499 DOI 10.1073/pnas.91.13.6240 http://dx.doi.org/10.1073/pnas.91.13.6240 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/gb-2004-5-10-r84 http://dx.doi.org/10.1186/gb-2004-5-10-r84 EMBL BC113506 http://www.ebi.ac.uk/ena/data/view/BC113506 EMBL BC113508 http://www.ebi.ac.uk/ena/data/view/BC113508 EMBL CR456507 http://www.ebi.ac.uk/ena/data/view/CR456507 EMBL S72503 http://www.ebi.ac.uk/ena/data/view/S72503 EMBL U07364 http://www.ebi.ac.uk/ena/data/view/U07364 EMBL U24056 http://www.ebi.ac.uk/ena/data/view/U24056 EMBL Z97056 http://www.ebi.ac.uk/ena/data/view/Z97056 Ensembl ENST00000303592 http://www.ensembl.org/id/ENST00000303592 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0008076 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008076 GO_component GO:0016323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016323 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0030659 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030659 GO_component GO:0045211 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045211 GO_function GO:0005242 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005242 GO_function GO:0015467 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015467 GO_function GO:0030165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030165 GO_process GO:0006813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006813 GO_process GO:0010107 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010107 GO_process GO:0061337 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061337 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 2.60.40.1400 http://www.cathdb.info/version/latest/superfamily/2.60.40.1400 GeneCards KCNJ4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNJ4 GeneID 3761 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=3761 GeneTree ENSGT00760000118842 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118842 H-InvDB HIX0175381 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0175381 HGNC HGNC:6265 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6265 HOGENOM HOG000237325 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000237325&db=HOGENOM6 HOVERGEN HBG006178 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG006178&db=HOVERGEN InParanoid P48050 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P48050 IntAct P48050 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P48050* InterPro IPR003273 http://www.ebi.ac.uk/interpro/entry/IPR003273 InterPro IPR013518 http://www.ebi.ac.uk/interpro/entry/IPR013518 InterPro IPR014756 http://www.ebi.ac.uk/interpro/entry/IPR014756 InterPro IPR016449 http://www.ebi.ac.uk/interpro/entry/IPR016449 Jabion 3761 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=3761 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:3761 http://www.genome.jp/dbget-bin/www_bget?hsa:3761 KEGG_Orthology KO:K04998 http://www.genome.jp/dbget-bin/www_bget?KO:K04998 KEGG_Pathway ko04725 http://www.genome.jp/kegg-bin/show_pathway?ko04725 MIM 600504 http://www.ncbi.nlm.nih.gov/omim/600504 MINT MINT-159020 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-159020 OMA HAPRRKH http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=HAPRRKH OrthoDB EOG091G08HC http://cegg.unige.ch/orthodb/results?searchtext=EOG091G08HC PANTHER PTHR11767 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11767 PDB 3GJ9 http://www.ebi.ac.uk/pdbe-srv/view/entry/3GJ9 PDBsum 3GJ9 http://www.ebi.ac.uk/pdbsum/3GJ9 PRINTS PR01320 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01320 PRINTS PR01326 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01326 PSORT swissprot:KCNJ4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCNJ4_HUMAN PSORT-B swissprot:KCNJ4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCNJ4_HUMAN PSORT2 swissprot:KCNJ4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCNJ4_HUMAN Pfam PF01007 http://pfam.xfam.org/family/PF01007 PharmGKB PA30048 http://www.pharmgkb.org/do/serve?objId=PA30048&objCls=Gene Phobius swissprot:KCNJ4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCNJ4_HUMAN PhylomeDB P48050 http://phylomedb.org/?seqid=P48050 ProteinModelPortal P48050 http://www.proteinmodelportal.org/query/uniprot/P48050 PubMed 10591208 http://www.ncbi.nlm.nih.gov/pubmed/10591208 PubMed 12032359 http://www.ncbi.nlm.nih.gov/pubmed/12032359 PubMed 15461802 http://www.ncbi.nlm.nih.gov/pubmed/15461802 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 19635485 http://www.ncbi.nlm.nih.gov/pubmed/19635485 PubMed 7576658 http://www.ncbi.nlm.nih.gov/pubmed/7576658 PubMed 8016146 http://www.ncbi.nlm.nih.gov/pubmed/8016146 PubMed 8034048 http://www.ncbi.nlm.nih.gov/pubmed/8034048 PubMed 8051145 http://www.ncbi.nlm.nih.gov/pubmed/8051145 Reactome R-HSA-1296041 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1296041 Reactome R-HSA-1296053 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1296053 Reactome R-HSA-5576886 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576886 Reactome R-HSA-997272 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-997272 RefSeq NP_004972 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004972 RefSeq NP_690607 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_690607 SMR P48050 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P48050 STRING 9606.ENSP00000306497 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000306497&targetmode=cogs SUPFAM SSF81296 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81296 UCSC uc003avt http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003avt&org=rat UniGene Hs.32505 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.32505 UniProtKB KCNJ4_HUMAN http://www.uniprot.org/uniprot/KCNJ4_HUMAN UniProtKB-AC P48050 http://www.uniprot.org/uniprot/P48050 charge swissprot:KCNJ4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCNJ4_HUMAN eggNOG ENOG410XQ62 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XQ62 eggNOG KOG3827 http://eggnogapi.embl.de/nog_data/html/tree/KOG3827 epestfind swissprot:KCNJ4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCNJ4_HUMAN garnier swissprot:KCNJ4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCNJ4_HUMAN helixturnhelix swissprot:KCNJ4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCNJ4_HUMAN hmoment swissprot:KCNJ4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCNJ4_HUMAN iep swissprot:KCNJ4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCNJ4_HUMAN inforesidue swissprot:KCNJ4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCNJ4_HUMAN neXtProt NX_P48050 http://www.nextprot.org/db/entry/NX_P48050 octanol swissprot:KCNJ4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCNJ4_HUMAN pepcoil swissprot:KCNJ4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCNJ4_HUMAN pepdigest swissprot:KCNJ4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCNJ4_HUMAN pepinfo swissprot:KCNJ4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCNJ4_HUMAN pepnet swissprot:KCNJ4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCNJ4_HUMAN pepstats swissprot:KCNJ4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCNJ4_HUMAN pepwheel swissprot:KCNJ4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCNJ4_HUMAN pepwindow swissprot:KCNJ4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCNJ4_HUMAN sigcleave swissprot:KCNJ4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCNJ4_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS CNGA4_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8IV77-1; Sequence=Displayed; Name=2; IsoId=Q8IV77-2; Sequence=VSP_039919, VSP_039920, VSP_039921; Note=No experimental confirmation available.; # AltName CNGA4_HUMAN Cyclic nucleotide-gated channel alpha-4 # CCDS CCDS31408 -. [Q8IV77-1] # DOMAIN CNGA4_HUMAN The C-terminal coiled-coil domain mediates trimerization of CNGA subunits. {ECO 0000250}. # ENZYME REGULATION Calcium-calmodulin exerts its inhibitory effect in cAMP sensitivity by binding to IQ-like motif of CNGA4 and preferably binds to the channel in the closed state. Inhibition by PIP3 of the CNG channel probably occurs via CGNA2 binding. {ECO:0000269|PubMed 17032767}. # Ensembl ENST00000379936 ENSP00000369268; ENSG00000132259. [Q8IV77-1] # ExpressionAtlas Q8IV77 baseline and differential # FUNCTION CNGA4_HUMAN Second messenger, cAMP, causes the opening of cation- selective cyclic nucleotide-gated (CNG) channels and depolarization of the neuron (olfactory sensory neurons, OSNs). CNGA4 is the modulatory subunit of this channel which is known to play a central role in the transduction of odorant signals and subsequent adaptation. By accelerating the calcium-mediated negative feedback in olfactory signaling it allows rapid adaptation to odor stimulation and extends its range of odor detection (By similarity). {ECO 0000250}. # GO_component GO:0000139 Golgi membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0030660 Golgi-associated vesicle membrane; TAS:Reactome. # GO_component GO:0060170 ciliary membrane; TAS:Reactome. # GO_function GO:0005222 intracellular cAMP activated cation channel activity; IBA:GO_Central. # GO_function GO:0005223 intracellular cGMP activated cation channel activity; IBA:GO_Central. # GO_function GO:0005249 voltage-gated potassium channel activity; IBA:GO_Central. # GO_function GO:0030552 cAMP binding; IEA:UniProtKB-KW. # GO_function GO:0030553 cGMP binding; IBA:GO_Central. # GO_process GO:0007608 sensory perception of smell; IEA:UniProtKB-KW. # GO_process GO:0042391 regulation of membrane potential; IBA:GO_Central. # GO_process GO:0050896 response to stimulus; IEA:UniProtKB-KW. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0008150 biological_process # GOslim_process GO:0050877 neurological system process # Gene3D 2.60.120.10 -; 1. # Genevisible Q8IV77 HS # HGNC HGNC:2152 CNGA4 # InterPro IPR000595 cNMP-bd_dom # InterPro IPR005821 Ion_trans_dom # InterPro IPR014710 RmlC-like_jellyroll # InterPro IPR018488 cNMP-bd_CS # InterPro IPR018490 cNMP-bd-like # InterPro IPR032406 CLZ_dom # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04740 Olfactory transduction # MIM 609472 gene # Organism CNGA4_HUMAN Homo sapiens (Human) # PROSITE PS00888 CNMP_BINDING_1 # PROSITE PS00889 CNMP_BINDING_2 # PROSITE PS50042 CNMP_BINDING_3 # Pfam PF00027 cNMP_binding # Pfam PF00520 Ion_trans # Pfam PF16526 CLZ # Proteomes UP000005640 Chromosome 11 # Reactome R-HSA-5620916 VxPx cargo-targeting to cilium # RecName CNGA4_HUMAN Cyclic nucleotide-gated cation channel alpha-4 # RefSeq NP_001032406 NM_001037329.3. [Q8IV77-1] # SEQUENCE CAUTION Sequence=AAH40277.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AK122736; Type=Frameshift; Positions=154; Evidence={ECO 0000305}; # SIMILARITY Belongs to the cyclic nucleotide-gated cation channel (TC 1.A.1.5) family. CNGA4 subfamily. {ECO 0000305}. # SIMILARITY Contains 1 cyclic nucleotide-binding domain. {ECO:0000255|PROSITE-ProRule PRU00060}. # SMART SM00100 cNMP # SUBCELLULAR LOCATION CNGA4_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # SUBUNIT Heterotetramer composed of two subunits of CNGA2, one of CNGA4 and one of CNGB1b. The complex forms the cyclic nucleotide- gated (CNG) channel of olfactory sensory neurons. {ECO:0000269|PubMed 15195096}. # SUPFAM SSF51206 SSF51206 # UCSC uc001mco human. [Q8IV77-1] # eggNOG ENOG410YWWI LUCA # eggNOG KOG0500 Eukaryota BLAST swissprot:CNGA4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CNGA4_HUMAN COXPRESdb 1262 http://coxpresdb.jp/data/gene/1262.shtml CleanEx HS_CNGA4 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CNGA4 DOI 10.1038/nature04632 http://dx.doi.org/10.1038/nature04632 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1038/nn1266 http://dx.doi.org/10.1038/nn1266 DOI 10.1073/pnas.0603344103 http://dx.doi.org/10.1073/pnas.0603344103 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AC022762 http://www.ebi.ac.uk/ena/data/view/AC022762 EMBL AK122736 http://www.ebi.ac.uk/ena/data/view/AK122736 EMBL BC040277 http://www.ebi.ac.uk/ena/data/view/BC040277 EMBL BC106935 http://www.ebi.ac.uk/ena/data/view/BC106935 EMBL BC106936 http://www.ebi.ac.uk/ena/data/view/BC106936 Ensembl ENST00000379936 http://www.ensembl.org/id/ENST00000379936 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000139 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0030660 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030660 GO_component GO:0060170 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060170 GO_function GO:0005222 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005222 GO_function GO:0005223 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005223 GO_function GO:0005249 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005249 GO_function GO:0030552 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030552 GO_function GO:0030553 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030553 GO_process GO:0007608 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007608 GO_process GO:0042391 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042391 GO_process GO:0050896 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050896 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 Gene3D 2.60.120.10 http://www.cathdb.info/version/latest/superfamily/2.60.120.10 GeneCards CNGA4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CNGA4 GeneID 1262 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=1262 GeneTree ENSGT00760000118772 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118772 H-InvDB HIX0026152 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0026152 HGNC HGNC:2152 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:2152 HOGENOM HOG000007898 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000007898&db=HOGENOM6 HOVERGEN HBG000281 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG000281&db=HOVERGEN InParanoid Q8IV77 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8IV77 InterPro IPR000595 http://www.ebi.ac.uk/interpro/entry/IPR000595 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR014710 http://www.ebi.ac.uk/interpro/entry/IPR014710 InterPro IPR018488 http://www.ebi.ac.uk/interpro/entry/IPR018488 InterPro IPR018490 http://www.ebi.ac.uk/interpro/entry/IPR018490 InterPro IPR032406 http://www.ebi.ac.uk/interpro/entry/IPR032406 Jabion 1262 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=1262 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:1262 http://www.genome.jp/dbget-bin/www_bget?hsa:1262 KEGG_Orthology KO:K04951 http://www.genome.jp/dbget-bin/www_bget?KO:K04951 KEGG_Pathway ko04740 http://www.genome.jp/kegg-bin/show_pathway?ko04740 MIM 609472 http://www.ncbi.nlm.nih.gov/omim/609472 OMA VRTWSFL http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=VRTWSFL OrthoDB EOG091G03EW http://cegg.unige.ch/orthodb/results?searchtext=EOG091G03EW PROSITE PS00888 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00888 PROSITE PS00889 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00889 PROSITE PS50042 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50042 PSORT swissprot:CNGA4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CNGA4_HUMAN PSORT-B swissprot:CNGA4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CNGA4_HUMAN PSORT2 swissprot:CNGA4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CNGA4_HUMAN Pfam PF00027 http://pfam.xfam.org/family/PF00027 Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF16526 http://pfam.xfam.org/family/PF16526 Phobius swissprot:CNGA4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CNGA4_HUMAN PhylomeDB Q8IV77 http://phylomedb.org/?seqid=Q8IV77 ProteinModelPortal Q8IV77 http://www.proteinmodelportal.org/query/uniprot/Q8IV77 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15195096 http://www.ncbi.nlm.nih.gov/pubmed/15195096 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16554811 http://www.ncbi.nlm.nih.gov/pubmed/16554811 PubMed 17032767 http://www.ncbi.nlm.nih.gov/pubmed/17032767 Reactome R-HSA-5620916 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5620916 RefSeq NP_001032406 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001032406 SMART SM00100 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00100 SMR Q8IV77 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q8IV77 STRING 9606.ENSP00000369268 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000369268&targetmode=cogs SUPFAM SSF51206 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF51206 UCSC uc001mco http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001mco&org=rat UniGene Hs.434618 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.434618 UniProtKB CNGA4_HUMAN http://www.uniprot.org/uniprot/CNGA4_HUMAN UniProtKB-AC Q8IV77 http://www.uniprot.org/uniprot/Q8IV77 charge swissprot:CNGA4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CNGA4_HUMAN eggNOG ENOG410YWWI http://eggnogapi.embl.de/nog_data/html/tree/ENOG410YWWI eggNOG KOG0500 http://eggnogapi.embl.de/nog_data/html/tree/KOG0500 epestfind swissprot:CNGA4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CNGA4_HUMAN garnier swissprot:CNGA4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CNGA4_HUMAN helixturnhelix swissprot:CNGA4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CNGA4_HUMAN hmoment swissprot:CNGA4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CNGA4_HUMAN iep swissprot:CNGA4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CNGA4_HUMAN inforesidue swissprot:CNGA4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CNGA4_HUMAN neXtProt NX_Q8IV77 http://www.nextprot.org/db/entry/NX_Q8IV77 octanol swissprot:CNGA4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CNGA4_HUMAN pepcoil swissprot:CNGA4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CNGA4_HUMAN pepdigest swissprot:CNGA4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CNGA4_HUMAN pepinfo swissprot:CNGA4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CNGA4_HUMAN pepnet swissprot:CNGA4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CNGA4_HUMAN pepstats swissprot:CNGA4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CNGA4_HUMAN pepwheel swissprot:CNGA4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CNGA4_HUMAN pepwindow swissprot:CNGA4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CNGA4_HUMAN sigcleave swissprot:CNGA4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CNGA4_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS TRPM5_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1 {ECO 0000269|PubMed 10607831, ECO 0000269|PubMed 15489334, ECO 0000269|PubMed 16554811}; IsoId=Q9NZQ8-1; Sequence=Displayed; Name=2 {ECO 0000269|Ref.4}; IsoId=Q9NZQ8-2; Sequence=VSP_052741; Name=3 {ECO 0000269|PubMed 10607831}; IsoId=Q9NZQ8-3; Sequence=VSP_052742, VSP_052743; Note=No experimental confirmation available. {ECO 0000305}; # AltName TRPM5_HUMAN Long transient receptor potential channel 5 # AltName TRPM5_HUMAN MLSN1- and TRP-related gene 1 protein # CCDS CCDS31340 -. [Q9NZQ8-1] # Ensembl ENST00000155858 ENSP00000155858; ENSG00000070985. [Q9NZQ8-1] # ExpressionAtlas Q9NZQ8 baseline and differential # FUNCTION TRPM5_HUMAN Voltage-modulated Ca(2+)-activated, monovalent cation channel (VCAM) that mediates a transient membrane depolarization and plays a central role in taste transduction. Monovalent- specific, non-selective cation channel that mediates the transport of Na(+), K(+) and Cs(+) ions equally well. Activated directly by increases in intracellular Ca(2+), but is impermeable to it. Gating is voltage-dependent and displays rapid activation and deactivation kinetics upon channel stimulation even during sustained elevations in Ca(2+). Also activated by a fast intracellular Ca(2+) increase in response to inositol 1,4,5- triphosphate-producing receptor agonists. The channel is blocked by extracellular acidification. External acidification has 2 effects, a fast reversible block of the current and a slower irreversible enhancement of current inactivation. Is a highly temperature-sensitive, heat activated channel showing a steep increase of inward currents at temperatures between 15 and 35 degrees Celsius. Heat activation is due to a shift of the voltage- dependent activation curve to negative potentials. Activated by arachidonic acid in vitro. May be involved in perception of bitter, sweet and umami tastes. May also be involved in sensing semiochemicals. {ECO 0000269|PubMed 14634208}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0016021 integral component of membrane; TAS:ProtInc. # GO_component GO:0030425 dendrite; IEA:Ensembl. # GO_component GO:0043025 neuronal cell body; IEA:Ensembl. # GO_function GO:0005216 ion channel activity; TAS:ProtInc. # GO_function GO:0005227 calcium activated cation channel activity; IEA:Ensembl. # GO_function GO:0005244 voltage-gated ion channel activity; IEA:UniProtKB-KW. # GO_function GO:0005267 potassium channel activity; IEA:Ensembl. # GO_function GO:0005272 sodium channel activity; TAS:Reactome. # GO_process GO:0050909 sensory perception of taste; IEA:InterPro. # GO_process GO:0070588 calcium ion transmembrane transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0050877 neurological system process # GOslim_process GO:0055085 transmembrane transport # Genevisible Q9NZQ8 HS # HGNC HGNC:14323 TRPM5 # InterPro IPR005821 Ion_trans_dom # InterPro IPR029577 TRPM5 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04742 Taste transduction # MIM 604600 gene # Organism TRPM5_HUMAN Homo sapiens (Human) # PANTHER PTHR13800:SF5 PTHR13800:SF5 # Pfam PF00520 Ion_trans # Proteomes UP000005640 Chromosome 11 # Reactome R-HSA-3295583 TRP channels # RecName TRPM5_HUMAN Transient receptor potential cation channel subfamily M member 5 # RefSeq NP_055370 NM_014555.3. [Q9NZQ8-1] # SIMILARITY Belongs to the transient receptor (TC 1.A.4) family. LTrpC subfamily. TRPM5 sub-subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION TRPM5_HUMAN Cell membrane {ECO 0000255}; Multi-pass membrane protein {ECO 0000250|UniProtKB Q8TD43, ECO 0000255}. # TCDB 1.A.4.5 the transient receptor potential ca(2+) channel (trp-cc) family # TISSUE SPECIFICITY Strongly expressed in fetal brain, liver and kidney, and in adult prostate, testis, ovary, colon and peripheral blood leukocytes. Also expressed in a large proportion of Wilms' tumors and rhabdomyosarcomas. In monochromosomal cell lines shows exclusive paternal expression. {ECO:0000269|PubMed 10607831}. # TopDownProteomics Q9NZQ8-3 -. [Q9NZQ8-3] # UCSC uc001lwm human. [Q9NZQ8-1] # eggNOG ENOG410XR5B LUCA # eggNOG KOG3614 Eukaryota BLAST swissprot:TRPM5_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:TRPM5_HUMAN BioCyc ZFISH:ENSG00000070985-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000070985-MONOMER COXPRESdb 29850 http://coxpresdb.jp/data/gene/29850.shtml CleanEx HS_TRPM5 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_TRPM5 DOI 10.1038/nature04632 http://dx.doi.org/10.1038/nature04632 DOI 10.1073/pnas.2334624100 http://dx.doi.org/10.1073/pnas.2334624100 DOI 10.1093/hmg/9.2.203 http://dx.doi.org/10.1093/hmg/9.2.203 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AC124057 http://www.ebi.ac.uk/ena/data/view/AC124057 EMBL AF177473 http://www.ebi.ac.uk/ena/data/view/AF177473 EMBL AJ270996 http://www.ebi.ac.uk/ena/data/view/AJ270996 EMBL BC093787 http://www.ebi.ac.uk/ena/data/view/BC093787 EMBL BC093789 http://www.ebi.ac.uk/ena/data/view/BC093789 Ensembl ENST00000155858 http://www.ensembl.org/id/ENST00000155858 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0030425 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030425 GO_component GO:0043025 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043025 GO_function GO:0005216 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005216 GO_function GO:0005227 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005227 GO_function GO:0005244 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005244 GO_function GO:0005267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005267 GO_function GO:0005272 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005272 GO_process GO:0050909 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050909 GO_process GO:0070588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070588 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards TRPM5 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=TRPM5 GeneID 29850 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=29850 GeneTree ENSGT00760000119127 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119127 HGNC HGNC:14323 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:14323 HOVERGEN HBG108337 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG108337&db=HOVERGEN HPA HPA042115 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA042115 HPA HPA043315 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA043315 InParanoid Q9NZQ8 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9NZQ8 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR029577 http://www.ebi.ac.uk/interpro/entry/IPR029577 Jabion 29850 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=29850 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:29850 http://www.genome.jp/dbget-bin/www_bget?hsa:29850 KEGG_Orthology KO:K04980 http://www.genome.jp/dbget-bin/www_bget?KO:K04980 KEGG_Pathway ko04742 http://www.genome.jp/kegg-bin/show_pathway?ko04742 MIM 604600 http://www.ncbi.nlm.nih.gov/omim/604600 PANTHER PTHR13800:SF5 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR13800:SF5 PSORT swissprot:TRPM5_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:TRPM5_HUMAN PSORT-B swissprot:TRPM5_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:TRPM5_HUMAN PSORT2 swissprot:TRPM5_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:TRPM5_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 PharmGKB PA37869 http://www.pharmgkb.org/do/serve?objId=PA37869&objCls=Gene Phobius swissprot:TRPM5_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:TRPM5_HUMAN PhylomeDB Q9NZQ8 http://phylomedb.org/?seqid=Q9NZQ8 ProteinModelPortal Q9NZQ8 http://www.proteinmodelportal.org/query/uniprot/Q9NZQ8 PubMed 10607831 http://www.ncbi.nlm.nih.gov/pubmed/10607831 PubMed 14634208 http://www.ncbi.nlm.nih.gov/pubmed/14634208 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16554811 http://www.ncbi.nlm.nih.gov/pubmed/16554811 Reactome R-HSA-3295583 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-3295583 RefSeq NP_055370 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_055370 STRING 9606.ENSP00000155858 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000155858&targetmode=cogs TCDB 1.A.4.5 http://www.tcdb.org/search/result.php?tc=1.A.4.5 UCSC uc001lwm http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001lwm&org=rat UniGene Hs.272287 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.272287 UniProtKB TRPM5_HUMAN http://www.uniprot.org/uniprot/TRPM5_HUMAN UniProtKB-AC Q9NZQ8 http://www.uniprot.org/uniprot/Q9NZQ8 charge swissprot:TRPM5_HUMAN http://rest.g-language.org/emboss/charge/swissprot:TRPM5_HUMAN eggNOG ENOG410XR5B http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XR5B eggNOG KOG3614 http://eggnogapi.embl.de/nog_data/html/tree/KOG3614 epestfind swissprot:TRPM5_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:TRPM5_HUMAN garnier swissprot:TRPM5_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:TRPM5_HUMAN helixturnhelix swissprot:TRPM5_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:TRPM5_HUMAN hmoment swissprot:TRPM5_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:TRPM5_HUMAN iep swissprot:TRPM5_HUMAN http://rest.g-language.org/emboss/iep/swissprot:TRPM5_HUMAN inforesidue swissprot:TRPM5_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:TRPM5_HUMAN neXtProt NX_Q9NZQ8 http://www.nextprot.org/db/entry/NX_Q9NZQ8 octanol swissprot:TRPM5_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:TRPM5_HUMAN pepcoil swissprot:TRPM5_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:TRPM5_HUMAN pepdigest swissprot:TRPM5_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:TRPM5_HUMAN pepinfo swissprot:TRPM5_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:TRPM5_HUMAN pepnet swissprot:TRPM5_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:TRPM5_HUMAN pepstats swissprot:TRPM5_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:TRPM5_HUMAN pepwheel swissprot:TRPM5_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:TRPM5_HUMAN pepwindow swissprot:TRPM5_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:TRPM5_HUMAN sigcleave swissprot:TRPM5_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:TRPM5_HUMAN ## Database ID URL or Descriptions # AltName SL9A7_HUMAN Na(+)/H(+) exchanger 7 # AltName SL9A7_HUMAN Solute carrier family 9 member 7 # Ensembl ENST00000328306 ENSP00000330320; ENSG00000065923 # ExpressionAtlas Q96T83 baseline and differential # FUNCTION SL9A7_HUMAN Mediates electroneutral exchange of protons for Na(+) and K(+) across endomembranes. May contribute to Golgi volume and cation homeostasis. {ECO 0000269|PubMed 11279194}. # GO_component GO:0000139 Golgi membrane; TAS:Reactome. # GO_component GO:0005802 trans-Golgi network; IDA:UniProtKB. # GO_component GO:0005886 plasma membrane; IBA:GO_Central. # GO_component GO:0016021 integral component of membrane; IDA:UniProtKB. # GO_component GO:0055038 recycling endosome membrane; IDA:UniProtKB. # GO_function GO:0042803 protein homodimerization activity; TAS:UniProtKB. # GO_function SL9A7_HUMAN GO 0015385 sodium proton antiporter activity; IDA UniProtKB. # GO_function SL9A7_HUMAN GO 0015386 potassium proton antiporter activity; IDA UniProtKB. # GO_process GO:0006811 ion transport; TAS:Reactome. # GO_process GO:0006885 regulation of pH; IDA:UniProtKB. # GO_process GO:0051453 regulation of intracellular pH; IBA:GO_Central. # GO_process GO:0098719 sodium ion import across plasma membrane; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Genevisible Q96T83 HS # HGNC HGNC:17123 SLC9A7 # InterPro IPR002090 Na/H_exchanger_6 # InterPro IPR004709 NaH_exchanger # InterPro IPR006153 Cation/H_exchanger # InterPro IPR018422 Cation/H_exchanger_CPA1 # KEGG_Brite ko02001 Solute carrier family # MIM 300368 gene # MISCELLANEOUS SL9A7_HUMAN Is not inhibited by amiloride but by benzamil and quinine. # Organism SL9A7_HUMAN Homo sapiens (Human) # PANTHER PTHR10110 PTHR10110; 2 # PRINTS PR01084 NAHEXCHNGR # PRINTS PR01088 NAHEXCHNGR6 # Pfam PF00999 Na_H_Exchanger # Proteomes UP000005640 Chromosome X # Reactome R-HSA-425986 Sodium/Proton exchangers # RecName SL9A7_HUMAN Sodium/hydrogen exchanger 7 # RefSeq NP_115980 NM_032591.2 # SIMILARITY Belongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family. {ECO 0000305}. # SUBCELLULAR LOCATION SL9A7_HUMAN Golgi apparatus, trans-Golgi network membrane {ECO 0000269|PubMed 15840657}; Multi-pass membrane protein {ECO 0000269|PubMed 15840657}. Recycling endosome membrane {ECO 0000269|PubMed 15840657}; Multi-pass membrane protein {ECO 0000269|PubMed 15840657}. # SUBUNIT Interacts with SCAMP1, SCAMP2 and SCAMP5; may participate in its shuttling from trans-Golgi network to recycling endosomes. {ECO:0000269|PubMed 15840657}. # TCDB 2.A.36.1:the monovalent cation proton antiporter-1 (cpa1) family # TIGRFAMs TIGR00840 b_cpa1 # TISSUE SPECIFICITY Ubiquitously expressed. {ECO:0000269|PubMed 11279194}. # UCSC uc004dgu human # eggNOG COG0025 LUCA # eggNOG KOG1965 Eukaryota BLAST swissprot:SL9A7_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SL9A7_HUMAN BioCyc ZFISH:ENSG00000065923-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000065923-MONOMER COXPRESdb 84679 http://coxpresdb.jp/data/gene/84679.shtml CleanEx HS_SLC9A7 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC9A7 DOI 10.1038/nature03440 http://dx.doi.org/10.1038/nature03440 DOI 10.1074/jbc.M101319200 http://dx.doi.org/10.1074/jbc.M101319200 DOI 10.1242/jcs.02315 http://dx.doi.org/10.1242/jcs.02315 EMBL AF298591 http://www.ebi.ac.uk/ena/data/view/AF298591 EMBL AL022165 http://www.ebi.ac.uk/ena/data/view/AL022165 EMBL AL022165 http://www.ebi.ac.uk/ena/data/view/AL022165 EMBL AL050307 http://www.ebi.ac.uk/ena/data/view/AL050307 EMBL AL050307 http://www.ebi.ac.uk/ena/data/view/AL050307 Ensembl ENST00000328306 http://www.ensembl.org/id/ENST00000328306 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000139 GO_component GO:0005802 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005802 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0055038 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055038 GO_function GO:0015385 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015385 GO_function GO:0015386 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015386 GO_function GO:0042803 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042803 GO_process GO:0006811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006811 GO_process GO:0006885 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006885 GO_process GO:0051453 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051453 GO_process GO:0098719 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0098719 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC9A7 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC9A7 GeneID 84679 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=84679 GeneTree ENSGT00760000119074 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119074 HGNC HGNC:17123 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:17123 HOGENOM HOG000172307 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000172307&db=HOGENOM6 HOVERGEN HBG055575 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG055575&db=HOVERGEN HPA HPA048938 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA048938 InParanoid Q96T83 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q96T83 IntAct Q96T83 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q96T83* InterPro IPR002090 http://www.ebi.ac.uk/interpro/entry/IPR002090 InterPro IPR004709 http://www.ebi.ac.uk/interpro/entry/IPR004709 InterPro IPR006153 http://www.ebi.ac.uk/interpro/entry/IPR006153 InterPro IPR018422 http://www.ebi.ac.uk/interpro/entry/IPR018422 Jabion 84679 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=84679 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:84679 http://www.genome.jp/dbget-bin/www_bget?hsa:84679 KEGG_Orthology KO:K12041 http://www.genome.jp/dbget-bin/www_bget?KO:K12041 MIM 300368 http://www.ncbi.nlm.nih.gov/omim/300368 PANTHER PTHR10110 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10110 PRINTS PR01084 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01084 PRINTS PR01088 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01088 PSORT swissprot:SL9A7_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SL9A7_HUMAN PSORT-B swissprot:SL9A7_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SL9A7_HUMAN PSORT2 swissprot:SL9A7_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SL9A7_HUMAN Pfam PF00999 http://pfam.xfam.org/family/PF00999 PharmGKB PA38200 http://www.pharmgkb.org/do/serve?objId=PA38200&objCls=Gene Phobius swissprot:SL9A7_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SL9A7_HUMAN PhylomeDB Q96T83 http://phylomedb.org/?seqid=Q96T83 ProteinModelPortal Q96T83 http://www.proteinmodelportal.org/query/uniprot/Q96T83 PubMed 11279194 http://www.ncbi.nlm.nih.gov/pubmed/11279194 PubMed 15772651 http://www.ncbi.nlm.nih.gov/pubmed/15772651 PubMed 15840657 http://www.ncbi.nlm.nih.gov/pubmed/15840657 Reactome R-HSA-425986 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-425986 RefSeq NP_115980 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_115980 SMR Q96T83 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q96T83 STRING 9606.ENSP00000330320 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000330320&targetmode=cogs TCDB 2.A.36.1 http://www.tcdb.org/search/result.php?tc=2.A.36.1 TIGRFAMs TIGR00840 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00840 UCSC uc004dgu http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc004dgu&org=rat UniGene Hs.91389 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.91389 UniProtKB SL9A7_HUMAN http://www.uniprot.org/uniprot/SL9A7_HUMAN UniProtKB-AC Q96T83 http://www.uniprot.org/uniprot/Q96T83 charge swissprot:SL9A7_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SL9A7_HUMAN eggNOG COG0025 http://eggnogapi.embl.de/nog_data/html/tree/COG0025 eggNOG KOG1965 http://eggnogapi.embl.de/nog_data/html/tree/KOG1965 epestfind swissprot:SL9A7_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SL9A7_HUMAN garnier swissprot:SL9A7_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SL9A7_HUMAN helixturnhelix swissprot:SL9A7_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SL9A7_HUMAN hmoment swissprot:SL9A7_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SL9A7_HUMAN iep swissprot:SL9A7_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SL9A7_HUMAN inforesidue swissprot:SL9A7_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SL9A7_HUMAN neXtProt NX_Q96T83 http://www.nextprot.org/db/entry/NX_Q96T83 octanol swissprot:SL9A7_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SL9A7_HUMAN pepcoil swissprot:SL9A7_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SL9A7_HUMAN pepdigest swissprot:SL9A7_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SL9A7_HUMAN pepinfo swissprot:SL9A7_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SL9A7_HUMAN pepnet swissprot:SL9A7_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SL9A7_HUMAN pepstats swissprot:SL9A7_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SL9A7_HUMAN pepwheel swissprot:SL9A7_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SL9A7_HUMAN pepwindow swissprot:SL9A7_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SL9A7_HUMAN sigcleave swissprot:SL9A7_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SL9A7_HUMAN ## Database ID URL or Descriptions # AltName SC5A4_HUMAN Sodium/glucose cotransporter 3 # AltName SC5A4_HUMAN Solute carrier family 5 member 4 # Ensembl ENST00000266086 ENSP00000266086; ENSG00000100191 # FUNCTION SC5A4_HUMAN Sodium-dependent glucose transporter. {ECO 0000250}. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_function SC5A4_HUMAN GO 0005412 glucose sodium symporter activity; IBA GO_Central. # GO_process GO:0006814 sodium ion transport; IBA:GO_Central. # GO_process GO:1904659 glucose transmembrane transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0055085 transmembrane transport # Genevisible Q9NY91 HS # HGNC HGNC:11039 SLC5A4 # InterPro IPR001734 Na/solute_symporter # InterPro IPR018212 Na/solute_symporter_CS # KEGG_Brite ko02001 Solute carrier family # Organism SC5A4_HUMAN Homo sapiens (Human) # PANTHER PTHR11819 PTHR11819; 2 # PROSITE PS00456 NA_SOLUT_SYMP_1 # PROSITE PS00457 NA_SOLUT_SYMP_2 # PROSITE PS50283 NA_SOLUT_SYMP_3 # Pfam PF00474 SSF # Proteomes UP000005640 Chromosome 22 # Reactome R-HSA-189200 Hexose transport # Reactome R-HSA-428808 Na+-dependent glucose transporters # Reactome R-HSA-429593 Inositol transporters # RecName SC5A4_HUMAN Low affinity sodium-glucose cotransporter # RefSeq NP_055042 NM_014227.2 # SIMILARITY Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family. {ECO 0000305}. # SUBCELLULAR LOCATION SC5A4_HUMAN Membrane; Multi-pass membrane protein. # TCDB 2.A.21.3.18:the solute sodium symporter (sss) family # TIGRFAMs TIGR00813 sss # UCSC uc003ami human # eggNOG COG4146 LUCA # eggNOG ENOG410IP49 Eukaryota BLAST swissprot:SC5A4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SC5A4_HUMAN BioCyc ZFISH:ENSG00000100191-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000100191-MONOMER COXPRESdb 6527 http://coxpresdb.jp/data/gene/6527.shtml CleanEx HS_SLC5A4 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC5A4 DOI 10.1038/990031 http://dx.doi.org/10.1038/990031 EMBL AJ133127 http://www.ebi.ac.uk/ena/data/view/AJ133127 EMBL AL008723 http://www.ebi.ac.uk/ena/data/view/AL008723 EMBL U41897 http://www.ebi.ac.uk/ena/data/view/U41897 Ensembl ENST00000266086 http://www.ensembl.org/id/ENST00000266086 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0005412 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005412 GO_process GO:0006814 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006814 GO_process GO:1904659 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1904659 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC5A4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC5A4 GeneID 6527 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6527 GeneTree ENSGT00760000118955 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118955 HGNC HGNC:11039 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11039 HOGENOM HOG000025422 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000025422&db=HOGENOM6 HOVERGEN HBG052859 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052859&db=HOVERGEN InParanoid Q9NY91 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9NY91 IntAct Q9NY91 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9NY91* InterPro IPR001734 http://www.ebi.ac.uk/interpro/entry/IPR001734 InterPro IPR018212 http://www.ebi.ac.uk/interpro/entry/IPR018212 Jabion 6527 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6527 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:6527 http://www.genome.jp/dbget-bin/www_bget?hsa:6527 KEGG_Orthology KO:K14384 http://www.genome.jp/dbget-bin/www_bget?KO:K14384 OMA YPMLVME http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=YPMLVME OrthoDB EOG091G077U http://cegg.unige.ch/orthodb/results?searchtext=EOG091G077U PANTHER PTHR11819 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11819 PROSITE PS00456 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00456 PROSITE PS00457 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00457 PROSITE PS50283 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50283 PSORT swissprot:SC5A4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SC5A4_HUMAN PSORT-B swissprot:SC5A4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SC5A4_HUMAN PSORT2 swissprot:SC5A4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SC5A4_HUMAN Pfam PF00474 http://pfam.xfam.org/family/PF00474 PharmGKB PA35904 http://www.pharmgkb.org/do/serve?objId=PA35904&objCls=Gene Phobius swissprot:SC5A4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SC5A4_HUMAN PhylomeDB Q9NY91 http://phylomedb.org/?seqid=Q9NY91 ProteinModelPortal Q9NY91 http://www.proteinmodelportal.org/query/uniprot/Q9NY91 PubMed 10591208 http://www.ncbi.nlm.nih.gov/pubmed/10591208 Reactome R-HSA-189200 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-189200 Reactome R-HSA-428808 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-428808 Reactome R-HSA-429593 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-429593 RefSeq NP_055042 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_055042 STRING 9606.ENSP00000266086 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000266086&targetmode=cogs TCDB 2.A.21.3.18 http://www.tcdb.org/search/result.php?tc=2.A.21.3.18 TIGRFAMs TIGR00813 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00813 UCSC uc003ami http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003ami&org=rat UniGene Hs.130101 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.130101 UniProtKB SC5A4_HUMAN http://www.uniprot.org/uniprot/SC5A4_HUMAN UniProtKB-AC Q9NY91 http://www.uniprot.org/uniprot/Q9NY91 charge swissprot:SC5A4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SC5A4_HUMAN eggNOG COG4146 http://eggnogapi.embl.de/nog_data/html/tree/COG4146 eggNOG ENOG410IP49 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IP49 epestfind swissprot:SC5A4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SC5A4_HUMAN garnier swissprot:SC5A4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SC5A4_HUMAN helixturnhelix swissprot:SC5A4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SC5A4_HUMAN hmoment swissprot:SC5A4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SC5A4_HUMAN iep swissprot:SC5A4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SC5A4_HUMAN inforesidue swissprot:SC5A4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SC5A4_HUMAN neXtProt NX_Q9NY91 http://www.nextprot.org/db/entry/NX_Q9NY91 octanol swissprot:SC5A4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SC5A4_HUMAN pepcoil swissprot:SC5A4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SC5A4_HUMAN pepdigest swissprot:SC5A4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SC5A4_HUMAN pepinfo swissprot:SC5A4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SC5A4_HUMAN pepnet swissprot:SC5A4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SC5A4_HUMAN pepstats swissprot:SC5A4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SC5A4_HUMAN pepwheel swissprot:SC5A4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SC5A4_HUMAN pepwindow swissprot:SC5A4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SC5A4_HUMAN sigcleave swissprot:SC5A4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SC5A4_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS CTSR4_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q7RTX7-1; Sequence=Displayed; Name=2; IsoId=Q7RTX7-2; Sequence=VSP_026979, VSP_026980; Note=No experimental confirmation available.; # BioGrid 132049 4 # CCDS CCDS30645 -. [Q7RTX7-1] # ENZYME REGULATION CTSR4_HUMAN The CatSper calcium channel is indirectly activated by extracellular progesterone and prostaglandins following the sequence progesterone > PGF1-alpha = PGE1 > PGA1 > PGE2 >> PGD2 (PubMed 21412338, PubMed 21412339, PubMed 26989199). The CatSper calcium channel is directly inhibited by endocannabinoid 2-arachidonoylglycerol (2AG) (PubMed 26989199). Indirect activation by progesterone takes place via the following mechanism progesterone binds and activates the acylglycerol lipase ABHD2, which in turn mediates hydrolysis of 2AG inhibitor, relieving inhibition of the CatSper channel (PubMed 26989199). The primary effect of progesterone activation is to shift voltage dependence towards more physiological, negative membrane potentials; it is not mediated by metabotropic receptors and second messengers (PubMed 21412338, PubMed 21412339). Sperm capacitation enhances the effect of progesterone by providing additional negative shift. Also activated by the elevation of intracellular pH (PubMed 21412338, PubMed 21412339). {ECO 0000269|PubMed 21412338, ECO 0000269|PubMed 21412339, ECO 0000269|PubMed 26989199}. # Ensembl ENST00000456354 ENSP00000390423; ENSG00000188782. [Q7RTX7-1] # Ensembl ENST00000518899 ENSP00000429464; ENSG00000188782. [Q7RTX7-2] # ExpressionAtlas Q7RTX7 baseline and differential # FUNCTION CTSR4_HUMAN Voltage-gated calcium channel that plays a central role in calcium-dependent physiological responses essential for successful fertilization, such as sperm hyperactivation, acrosome reaction and chemotaxis towards the oocyte. {ECO 0000269|PubMed 21412338, ECO 0000269|PubMed 21412339}. # GO_component GO:0001669 acrosomal vesicle; IEA:Ensembl. # GO_component GO:0005886 plasma membrane; IBA:GO_Central. # GO_component GO:0036128 CatSper complex; ISS:UniProtKB. # GO_component GO:0097228 sperm principal piece; IEA:Ensembl. # GO_function GO:0005227 calcium activated cation channel activity; IEA:InterPro. # GO_function GO:0005245 voltage-gated calcium channel activity; IEA:Ensembl. # GO_function GO:0005248 voltage-gated sodium channel activity; IBA:GO_Central. # GO_process GO:0007275 multicellular organism development; IEA:UniProtKB-KW. # GO_process GO:0019228 neuronal action potential; IBA:GO_Central. # GO_process GO:0030317 flagellated sperm motility; IEA:Ensembl. # GO_process GO:0032570 response to progesterone; TAS:Reactome. # GO_process GO:0035036 sperm-egg recognition; TAS:Reactome. # GO_process GO:0048240 sperm capacitation; IEA:Ensembl. # GO_process GO:0086010 membrane depolarization during action potential; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0031410 cytoplasmic vesicle # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0008150 biological_process # GOslim_process GO:0021700 developmental maturation # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0048870 cell motility # Gene3D 1.20.120.350 -; 1. # HGNC HGNC:23220 CATSPER4 # InterPro IPR005821 Ion_trans_dom # InterPro IPR027359 Channel_four-helix_dom # InterPro IPR028744 CatSper4 # MIM 609121 gene # Organism CTSR4_HUMAN Homo sapiens (Human) # PANTHER PTHR10037:SF225 PTHR10037:SF225; 2 # Pfam PF00520 Ion_trans # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-1300642 Sperm Motility And Taxes # RecName CTSR4_HUMAN Cation channel sperm-associated protein 4 # RefSeq NP_937770 NM_198137.1. [Q7RTX7-1] # SEQUENCE CAUTION Sequence=AAI28139.1; Type=Frameshift; Positions=21; Evidence={ECO:0000305}; Sequence=CAH71538.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the cation channel sperm-associated (TC 1.A.1.19) family. {ECO 0000305}. # SUBCELLULAR LOCATION CTSR4_HUMAN Cell projection, cilium, flagellum membrane; Multi-pass membrane protein. Note=Specifically located in the principal piece of sperm tail. # SUBUNIT Heterotetramer; possibly composed of CATSPER1, CATSPER2, CATSPER3 and CATSPER4 (Potential). Component of the CatSper complex. Interacts with CATSPER1 (By similarity). {ECO:0000250, ECO 0000305}. # TCDB 1.A.1.19 the voltage-gated ion channel (vic) superfamily # TISSUE SPECIFICITY CTSR4_HUMAN Testis-specific. {ECO 0000269|PubMed 12932298, ECO 0000269|PubMed 17347248}. # UCSC uc009vsf human. [Q7RTX7-1] # eggNOG COG1226 LUCA # eggNOG ENOG410II5Y Eukaryota BLAST swissprot:CTSR4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CTSR4_HUMAN BioCyc ZFISH:G66-31009-MONOMER http://biocyc.org/getid?id=ZFISH:G66-31009-MONOMER COXPRESdb 378807 http://coxpresdb.jp/data/gene/378807.shtml CleanEx HS_CATSPER4 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CATSPER4 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1038/nature09767 http://dx.doi.org/10.1038/nature09767 DOI 10.1038/nature09769 http://dx.doi.org/10.1038/nature09769 DOI 10.1093/molehr/gam009 http://dx.doi.org/10.1093/molehr/gam009 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.aad6887 http://dx.doi.org/10.1126/science.aad6887 DOI 10.1186/1477-7827-1-53 http://dx.doi.org/10.1186/1477-7827-1-53 EMBL AL355877 http://www.ebi.ac.uk/ena/data/view/AL355877 EMBL BC128138 http://www.ebi.ac.uk/ena/data/view/BC128138 EMBL BC128139 http://www.ebi.ac.uk/ena/data/view/BC128139 EMBL BN000273 http://www.ebi.ac.uk/ena/data/view/BN000273 Ensembl ENST00000456354 http://www.ensembl.org/id/ENST00000456354 Ensembl ENST00000518899 http://www.ensembl.org/id/ENST00000518899 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0001669 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001669 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0036128 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0036128 GO_component GO:0097228 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097228 GO_function GO:0005227 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005227 GO_function GO:0005245 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005245 GO_function GO:0005248 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005248 GO_process GO:0007275 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007275 GO_process GO:0019228 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019228 GO_process GO:0030317 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030317 GO_process GO:0032570 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032570 GO_process GO:0035036 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035036 GO_process GO:0048240 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048240 GO_process GO:0086010 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086010 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0031410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0021700 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021700 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0048870 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048870 Gene3D 1.20.120.350 http://www.cathdb.info/version/latest/superfamily/1.20.120.350 GeneCards CATSPER4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CATSPER4 GeneID 378807 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=378807 GeneTree ENSGT00760000119325 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119325 HGNC HGNC:23220 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:23220 HOGENOM HOG000112053 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000112053&db=HOGENOM6 HOVERGEN HBG102124 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG102124&db=HOVERGEN HPA HPA045257 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA045257 InParanoid Q7RTX7 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q7RTX7 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR027359 http://www.ebi.ac.uk/interpro/entry/IPR027359 InterPro IPR028744 http://www.ebi.ac.uk/interpro/entry/IPR028744 Jabion 378807 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=378807 KEGG_Gene hsa:378807 http://www.genome.jp/dbget-bin/www_bget?hsa:378807 MIM 609121 http://www.ncbi.nlm.nih.gov/omim/609121 PANTHER PTHR10037:SF225 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10037:SF225 PSORT swissprot:CTSR4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CTSR4_HUMAN PSORT-B swissprot:CTSR4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CTSR4_HUMAN PSORT2 swissprot:CTSR4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CTSR4_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 PharmGKB PA134941696 http://www.pharmgkb.org/do/serve?objId=PA134941696&objCls=Gene Phobius swissprot:CTSR4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CTSR4_HUMAN PhylomeDB Q7RTX7 http://phylomedb.org/?seqid=Q7RTX7 ProteinModelPortal Q7RTX7 http://www.proteinmodelportal.org/query/uniprot/Q7RTX7 PubMed 12932298 http://www.ncbi.nlm.nih.gov/pubmed/12932298 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 17347248 http://www.ncbi.nlm.nih.gov/pubmed/17347248 PubMed 21412338 http://www.ncbi.nlm.nih.gov/pubmed/21412338 PubMed 21412339 http://www.ncbi.nlm.nih.gov/pubmed/21412339 PubMed 26989199 http://www.ncbi.nlm.nih.gov/pubmed/26989199 Reactome R-HSA-1300642 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1300642 RefSeq NP_937770 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_937770 STRING 9606.ENSP00000390423 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000390423&targetmode=cogs TCDB 1.A.1.19 http://www.tcdb.org/search/result.php?tc=1.A.1.19 UCSC uc009vsf http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc009vsf&org=rat UniGene Hs.123532 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.123532 UniProtKB CTSR4_HUMAN http://www.uniprot.org/uniprot/CTSR4_HUMAN UniProtKB-AC Q7RTX7 http://www.uniprot.org/uniprot/Q7RTX7 charge swissprot:CTSR4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CTSR4_HUMAN eggNOG COG1226 http://eggnogapi.embl.de/nog_data/html/tree/COG1226 eggNOG ENOG410II5Y http://eggnogapi.embl.de/nog_data/html/tree/ENOG410II5Y epestfind swissprot:CTSR4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CTSR4_HUMAN garnier swissprot:CTSR4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CTSR4_HUMAN helixturnhelix swissprot:CTSR4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CTSR4_HUMAN hmoment swissprot:CTSR4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CTSR4_HUMAN iep swissprot:CTSR4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CTSR4_HUMAN inforesidue swissprot:CTSR4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CTSR4_HUMAN neXtProt NX_Q7RTX7 http://www.nextprot.org/db/entry/NX_Q7RTX7 octanol swissprot:CTSR4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CTSR4_HUMAN pepcoil swissprot:CTSR4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CTSR4_HUMAN pepdigest swissprot:CTSR4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CTSR4_HUMAN pepinfo swissprot:CTSR4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CTSR4_HUMAN pepnet swissprot:CTSR4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CTSR4_HUMAN pepstats swissprot:CTSR4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CTSR4_HUMAN pepwheel swissprot:CTSR4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CTSR4_HUMAN pepwindow swissprot:CTSR4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CTSR4_HUMAN sigcleave swissprot:CTSR4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CTSR4_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS SC6A6_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P31641-1; Sequence=Displayed; Name=2; IsoId=P31641-2; Sequence=VSP_044961; Note=No experimental confirmation available.; # AltName SC6A6_HUMAN Solute carrier family 6 member 6 # BioGrid 112424 7 # CCDS CCDS33705 -. [P31641-1] # CCDS CCDS46765 -. [P31641-2] # ChiTaRS SLC6A6 human # Ensembl ENST00000621751 ENSP00000482560; ENSG00000131389. [P31641-2] # Ensembl ENST00000622186 ENSP00000480890; ENSG00000131389. [P31641-1] # ExpressionAtlas P31641 baseline and differential # FUNCTION SC6A6_HUMAN Sodium-dependent taurine and beta-alanine transporter. Chloride ions are necessary for optimal uptake. {ECO 0000269|PubMed 8382624}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0016021 integral component of membrane; TAS:ProtInc. # GO_function GO:0015171 amino acid transmembrane transporter activity; TAS:Reactome. # GO_function SC6A6_HUMAN GO 0005328 neurotransmitter sodium symporter activity; IEA InterPro. # GO_function SC6A6_HUMAN GO 0005369 taurine sodium symporter activity; TAS ProtInc. # GO_process GO:0003333 amino acid transmembrane transport; IBA:GO_Central. # GO_process GO:0006520 cellular amino acid metabolic process; TAS:ProtInc. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0006865 amino acid transport; TAS:Reactome. # GO_process GO:0015734 taurine transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006520 cellular amino acid metabolic process # GOslim_process GO:0006810 transport # GOslim_process GO:0055085 transmembrane transport # Genevisible P31641 HS # HGNC HGNC:11052 SLC6A6 # IntAct P31641 2 # InterPro IPR000175 Na/ntran_symport # InterPro IPR002434 Na/ntran_symport_taurine # KEGG_Brite ko02001 Solute carrier family # KEGG_Brite ko04040 Ion channels # MIM 186854 gene # Organism SC6A6_HUMAN Homo sapiens (Human) # PANTHER PTHR11616 PTHR11616 # PIR G01426 G01426 # PIR S29839 S29839 # PIR S46487 S46487 # PRINTS PR00176 NANEUSMPORT # PRINTS PR01200 TAUTRANSPORT # PROSITE PS00610 NA_NEUROTRAN_SYMP_1 # PROSITE PS00754 NA_NEUROTRAN_SYMP_2 # PROSITE PS50267 NA_NEUROTRAN_SYMP_3 # PTM SC6A6_HUMAN Down-regulated upon Ser-322 phosphorylation. {ECO 0000250}. # Pfam PF00209 SNF # Proteomes UP000005640 Chromosome 3 # Reactome R-HSA-352230 Amino acid transport across the plasma membrane # Reactome R-HSA-442660 Na+/Cl- dependent neurotransmitter transporters # RecName SC6A6_HUMAN Sodium- and chloride-dependent taurine transporter # RefSeq NP_001127839 NM_001134367.3 # RefSeq NP_001127840 NM_001134368.3. [P31641-2] # RefSeq NP_003034 NM_003043.5. [P31641-1] # RefSeq XP_011532332 XM_011534030.2. [P31641-1] # SIMILARITY Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A6 subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION SC6A6_HUMAN Cell membrane; Multi-pass membrane protein. # TCDB 2.A.22.3:the neurotransmitter sodium symporter (nss) family # TISSUE SPECIFICITY Expressed abundantly in placenta and skeletal muscle, at intermediate levels in heart, brain, lung, kidney and pancreas and at low levels in liver. {ECO:0000269|PubMed 8382624}. # UCSC uc032rfd human. [P31641-1] # eggNOG COG0733 LUCA # eggNOG KOG3659 Eukaryota BLAST swissprot:SC6A6_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SC6A6_HUMAN BioCyc ZFISH:ENSG00000131389-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000131389-MONOMER COXPRESdb 6533 http://coxpresdb.jp/data/gene/6533.shtml CleanEx HS_SLC6A6 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC6A6 DOI 10.1016/0014-5793(93)80008-I http://dx.doi.org/10.1016/0014-5793(93)80008-I DOI 10.1038/nature04728 http://dx.doi.org/10.1038/nature04728 DOI 10.1038/nbt.1532 http://dx.doi.org/10.1038/nbt.1532 DOI 10.1042/bj3000893 http://dx.doi.org/10.1042/bj3000893 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AC090941 http://www.ebi.ac.uk/ena/data/view/AC090941 EMBL AC090952 http://www.ebi.ac.uk/ena/data/view/AC090952 EMBL AC093496 http://www.ebi.ac.uk/ena/data/view/AC093496 EMBL AF346763 http://www.ebi.ac.uk/ena/data/view/AF346763 EMBL BC006252 http://www.ebi.ac.uk/ena/data/view/BC006252 EMBL BC111489 http://www.ebi.ac.uk/ena/data/view/BC111489 EMBL BC137128 http://www.ebi.ac.uk/ena/data/view/BC137128 EMBL BC137129 http://www.ebi.ac.uk/ena/data/view/BC137129 EMBL CH471055 http://www.ebi.ac.uk/ena/data/view/CH471055 EMBL U09220 http://www.ebi.ac.uk/ena/data/view/U09220 EMBL U16120 http://www.ebi.ac.uk/ena/data/view/U16120 EMBL Z18956 http://www.ebi.ac.uk/ena/data/view/Z18956 Ensembl ENST00000621751 http://www.ensembl.org/id/ENST00000621751 Ensembl ENST00000622186 http://www.ensembl.org/id/ENST00000622186 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005328 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005328 GO_function GO:0005369 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005369 GO_function GO:0015171 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015171 GO_process GO:0003333 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003333 GO_process GO:0006520 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006520 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0006865 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006865 GO_process GO:0015734 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015734 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006520 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006520 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC6A6 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC6A6 GeneID 6533 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6533 GeneTree ENSGT00760000118857 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118857 HGNC HGNC:11052 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11052 HOGENOM HOG000116406 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000116406&db=HOGENOM6 HOVERGEN HBG071421 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG071421&db=HOVERGEN HPA HPA015028 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA015028 HPA HPA016488 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA016488 InParanoid P31641 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P31641 IntAct P31641 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P31641* InterPro IPR000175 http://www.ebi.ac.uk/interpro/entry/IPR000175 InterPro IPR002434 http://www.ebi.ac.uk/interpro/entry/IPR002434 Jabion 6533 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6533 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:6533 http://www.genome.jp/dbget-bin/www_bget?hsa:6533 KEGG_Orthology KO:K05039 http://www.genome.jp/dbget-bin/www_bget?KO:K05039 MIM 186854 http://www.ncbi.nlm.nih.gov/omim/186854 PANTHER PTHR11616 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11616 PRINTS PR00176 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00176 PRINTS PR01200 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01200 PROSITE PS00610 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00610 PROSITE PS00754 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00754 PROSITE PS50267 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50267 PSORT swissprot:SC6A6_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SC6A6_HUMAN PSORT-B swissprot:SC6A6_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SC6A6_HUMAN PSORT2 swissprot:SC6A6_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SC6A6_HUMAN Pfam PF00209 http://pfam.xfam.org/family/PF00209 PharmGKB PA35912 http://www.pharmgkb.org/do/serve?objId=PA35912&objCls=Gene Phobius swissprot:SC6A6_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SC6A6_HUMAN PhylomeDB P31641 http://phylomedb.org/?seqid=P31641 ProteinModelPortal P31641 http://www.proteinmodelportal.org/query/uniprot/P31641 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16641997 http://www.ncbi.nlm.nih.gov/pubmed/16641997 PubMed 19349973 http://www.ncbi.nlm.nih.gov/pubmed/19349973 PubMed 8010975 http://www.ncbi.nlm.nih.gov/pubmed/8010975 PubMed 8382624 http://www.ncbi.nlm.nih.gov/pubmed/8382624 PubMed 8654117 http://www.ncbi.nlm.nih.gov/pubmed/8654117 Reactome R-HSA-352230 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-352230 Reactome R-HSA-442660 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-442660 RefSeq NP_001127839 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001127839 RefSeq NP_001127840 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001127840 RefSeq NP_003034 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_003034 RefSeq XP_011532332 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011532332 STRING 9606.ENSP00000354107 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000354107&targetmode=cogs TCDB 2.A.22.3 http://www.tcdb.org/search/result.php?tc=2.A.22.3 UCSC uc032rfd http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc032rfd&org=rat UniGene Hs.529488 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.529488 UniProtKB SC6A6_HUMAN http://www.uniprot.org/uniprot/SC6A6_HUMAN UniProtKB-AC P31641 http://www.uniprot.org/uniprot/P31641 charge swissprot:SC6A6_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SC6A6_HUMAN eggNOG COG0733 http://eggnogapi.embl.de/nog_data/html/tree/COG0733 eggNOG KOG3659 http://eggnogapi.embl.de/nog_data/html/tree/KOG3659 epestfind swissprot:SC6A6_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SC6A6_HUMAN garnier swissprot:SC6A6_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SC6A6_HUMAN helixturnhelix swissprot:SC6A6_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SC6A6_HUMAN hmoment swissprot:SC6A6_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SC6A6_HUMAN iep swissprot:SC6A6_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SC6A6_HUMAN inforesidue swissprot:SC6A6_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SC6A6_HUMAN neXtProt NX_P31641 http://www.nextprot.org/db/entry/NX_P31641 octanol swissprot:SC6A6_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SC6A6_HUMAN pepcoil swissprot:SC6A6_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SC6A6_HUMAN pepdigest swissprot:SC6A6_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SC6A6_HUMAN pepinfo swissprot:SC6A6_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SC6A6_HUMAN pepnet swissprot:SC6A6_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SC6A6_HUMAN pepstats swissprot:SC6A6_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SC6A6_HUMAN pepwheel swissprot:SC6A6_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SC6A6_HUMAN pepwindow swissprot:SC6A6_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SC6A6_HUMAN sigcleave swissprot:SC6A6_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SC6A6_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S35D1_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NTN3-1; Sequence=Displayed; Name=2; IsoId=Q9NTN3-2; Sequence=VSP_056860, VSP_056861; Note=No experimental confirmation available.; # AltName S35D1_HUMAN Solute carrier family 35 member D1 # AltName S35D1_HUMAN UDP-galactose transporter-related protein 7 # CCDS CCDS636 -. [Q9NTN3-1] # ChiTaRS SLC35D1 human # DISEASE S35D1_HUMAN Schneckenbecken dysplasia (SCHBCKD) [MIM 269250] Rare, autosomal recessive, lethal short-limbed skeletal dysplasia with platyspondylia. {ECO 0000269|PubMed 17952091}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000235345 ENSP00000235345; ENSG00000116704. [Q9NTN3-1] # FUNCTION S35D1_HUMAN Transports both UDP-glucuronic acid (UDP-GlcA) and UDP- N-acetylgalactosamine (UDP-GalNAc) from the cytoplasm to into the endoplasmic reticulum lumen. May participate in glucuronidation and/or chondroitin sulfate biosynthesis. # GO_component GO:0005789 endoplasmic reticulum membrane; TAS:Reactome. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0005461 UDP-glucuronic acid transmembrane transporter activity; TAS:Reactome. # GO_function GO:0015165 pyrimidine nucleotide-sugar transmembrane transporter activity; IBA:GO_Central. # GO_process GO:0006065 UDP-glucuronate biosynthetic process; TAS:Reactome. # GO_process GO:0008643 carbohydrate transport; IEA:UniProtKB-KW. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0044281 small molecule metabolic process # Genevisible Q9NTN3 HS # HGNC HGNC:20800 SLC35D1 # InterPro IPR004853 Sugar_P_trans_dom # KEGG_Brite ko02001 Solute carrier family # KEGG_Disease H00474 [Skeletal dysplasia] Schneckenbecken dysplasia # MIM 269250 phenotype # MIM 610804 gene # Organism S35D1_HUMAN Homo sapiens (Human) # Orphanet 3144 Schneckenbecken dysplasia # Pfam PF03151 TPT # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-173599 Formation of the active cofactor, UDP-glucuronate # Reactome R-HSA-727802 Transport of nucleotide sugars # RecName S35D1_HUMAN UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter # RefSeq NP_055954 NM_015139.2. [Q9NTN3-1] # SEQUENCE CAUTION Sequence=BAA13390.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the TPT transporter family. SLC35D subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION S35D1_HUMAN Endoplasmic reticulum membrane; Multi-pass membrane protein. # TCDB 2.A.7.15 the drug/metabolite transporter (dmt) superfamily # TISSUE SPECIFICITY S35D1_HUMAN Ubiquitous. # UCSC uc001ddk human. [Q9NTN3-1] # eggNOG COG5070 LUCA # eggNOG KOG1444 Eukaryota BLAST swissprot:S35D1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S35D1_HUMAN BioCyc ZFISH:ENSG00000116704-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000116704-MONOMER COXPRESdb 23169 http://coxpresdb.jp/data/gene/23169.shtml CleanEx HS_SLC35D1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC35D1 DOI 10.1016/S0014-5793(01)02358-4 http://dx.doi.org/10.1016/S0014-5793(01)02358-4 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1038/nm1655 http://dx.doi.org/10.1038/nm1655 DOI 10.1093/dnares/3.5.321 http://dx.doi.org/10.1093/dnares/3.5.321 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AB044343 http://www.ebi.ac.uk/ena/data/view/AB044343 EMBL AK289800 http://www.ebi.ac.uk/ena/data/view/AK289800 EMBL AK296449 http://www.ebi.ac.uk/ena/data/view/AK296449 EMBL AL133320 http://www.ebi.ac.uk/ena/data/view/AL133320 EMBL BC093786 http://www.ebi.ac.uk/ena/data/view/BC093786 EMBL BC112031 http://www.ebi.ac.uk/ena/data/view/BC112031 EMBL D87449 http://www.ebi.ac.uk/ena/data/view/D87449 Ensembl ENST00000235345 http://www.ensembl.org/id/ENST00000235345 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005789 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005789 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005461 GO_function GO:0015165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015165 GO_process GO:0006065 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006065 GO_process GO:0008643 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008643 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GeneCards SLC35D1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC35D1 GeneID 23169 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=23169 GeneTree ENSGT00390000014204 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000014204 HGNC HGNC:20800 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:20800 HOGENOM HOG000038339 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000038339&db=HOGENOM6 HOVERGEN HBG054071 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG054071&db=HOVERGEN InParanoid Q9NTN3 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9NTN3 InterPro IPR004853 http://www.ebi.ac.uk/interpro/entry/IPR004853 Jabion 23169 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=23169 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Disease H00474 http://www.genome.jp/dbget-bin/www_bget?H00474 KEGG_Gene hsa:23169 http://www.genome.jp/dbget-bin/www_bget?hsa:23169 KEGG_Orthology KO:K15281 http://www.genome.jp/dbget-bin/www_bget?KO:K15281 MIM 269250 http://www.ncbi.nlm.nih.gov/omim/269250 MIM 610804 http://www.ncbi.nlm.nih.gov/omim/610804 OMA KFSRPVQ http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=KFSRPVQ Orphanet 3144 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=3144 OrthoDB EOG091G0KCU http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0KCU PSORT swissprot:S35D1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S35D1_HUMAN PSORT-B swissprot:S35D1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S35D1_HUMAN PSORT2 swissprot:S35D1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S35D1_HUMAN Pfam PF03151 http://pfam.xfam.org/family/PF03151 PharmGKB PA134978757 http://www.pharmgkb.org/do/serve?objId=PA134978757&objCls=Gene Phobius swissprot:S35D1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S35D1_HUMAN PhylomeDB Q9NTN3 http://phylomedb.org/?seqid=Q9NTN3 ProteinModelPortal Q9NTN3 http://www.proteinmodelportal.org/query/uniprot/Q9NTN3 PubMed 11322953 http://www.ncbi.nlm.nih.gov/pubmed/11322953 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 17952091 http://www.ncbi.nlm.nih.gov/pubmed/17952091 PubMed 9039502 http://www.ncbi.nlm.nih.gov/pubmed/9039502 Reactome R-HSA-173599 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-173599 Reactome R-HSA-727802 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-727802 RefSeq NP_055954 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_055954 STRING 9606.ENSP00000235345 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000235345&targetmode=cogs TCDB 2.A.7.15 http://www.tcdb.org/search/result.php?tc=2.A.7.15 UCSC uc001ddk http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001ddk&org=rat UniGene Hs.213642 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.213642 UniProtKB S35D1_HUMAN http://www.uniprot.org/uniprot/S35D1_HUMAN UniProtKB-AC Q9NTN3 http://www.uniprot.org/uniprot/Q9NTN3 charge swissprot:S35D1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S35D1_HUMAN eggNOG COG5070 http://eggnogapi.embl.de/nog_data/html/tree/COG5070 eggNOG KOG1444 http://eggnogapi.embl.de/nog_data/html/tree/KOG1444 epestfind swissprot:S35D1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S35D1_HUMAN garnier swissprot:S35D1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S35D1_HUMAN helixturnhelix swissprot:S35D1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S35D1_HUMAN hmoment swissprot:S35D1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S35D1_HUMAN iep swissprot:S35D1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S35D1_HUMAN inforesidue swissprot:S35D1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S35D1_HUMAN neXtProt NX_Q9NTN3 http://www.nextprot.org/db/entry/NX_Q9NTN3 octanol swissprot:S35D1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S35D1_HUMAN pepcoil swissprot:S35D1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S35D1_HUMAN pepdigest swissprot:S35D1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S35D1_HUMAN pepinfo swissprot:S35D1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S35D1_HUMAN pepnet swissprot:S35D1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S35D1_HUMAN pepstats swissprot:S35D1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S35D1_HUMAN pepwheel swissprot:S35D1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S35D1_HUMAN pepwindow swissprot:S35D1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S35D1_HUMAN sigcleave swissprot:S35D1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S35D1_HUMAN ## Database ID URL or Descriptions # AltName ABCBB_HUMAN ATP-binding cassette sub-family B member 11 # BIOPHYSICOCHEMICAL PROPERTIES ABCBB_HUMAN Kinetic parameters KM=30.4 uM for taurocholate {ECO 0000269|PubMed 17264802}; Vmax=232 pmol/min/mg enzyme for taurocholate transport {ECO 0000269|PubMed 17264802}; # BioGrid 114199 5 # ChiTaRS ABCB11 human # DISEASE ABCBB_HUMAN Cholestasis, benign recurrent intrahepatic, 2 (BRIC2) [MIM 605479] A disorder characterized by intermittent episodes of cholestasis without progression to liver failure. There is initial elevation of serum bile acids, followed by cholestatic jaundice which generally spontaneously resolves after periods of weeks to months. The cholestatic attacks vary in severity and duration. Patients are asymptomatic between episodes, both clinically and biochemically. {ECO 0000269|PubMed 15300568, ECO 0000269|PubMed 16039748}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE ABCBB_HUMAN Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM 601847] A disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. {ECO 0000269|PubMed 10579978, ECO 0000269|PubMed 11815775, ECO 0000269|PubMed 24969679, ECO 0000269|PubMed 9806540}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DOMAIN ABCBB_HUMAN Multifunctional polypeptide with two homologous halves, each containing a hydrophobic membrane-anchoring domain and an ATP binding cassette (ABC) domain. # DrugBank DB00091 Cyclosporine # DrugBank DB00171 Adenosine triphosphate # DrugBank DB00175 Pravastatin # DrugBank DB00206 Reserpine # DrugBank DB00390 Digoxin # DrugBank DB00396 Progesterone # DrugBank DB00477 Chlorpromazine # DrugBank DB00501 Cimetidine # DrugBank DB00541 Vincristine # DrugBank DB00559 Bosentan # DrugBank DB00570 Vinblastine # DrugBank DB00661 Verapamil # DrugBank DB00675 Tamoxifen # DrugBank DB00693 Fluorescein # DrugBank DB00694 Daunorubicin # DrugBank DB00845 Clofazimine # DrugBank DB00908 Quinidine # DrugBank DB00977 Ethinyl Estradiol # DrugBank DB00997 Doxorubicin # DrugBank DB01016 Glyburide # DrugBank DB01026 Ketoconazole # DrugBank DB01045 Rifampicin # DrugBank DB01051 Novobiocin # DrugBank DB01098 Rosuvastatin # DrugBank DB01174 Phenobarbital # DrugBank DB01229 Paclitaxel # DrugBank DB01234 Dexamethasone # DrugBank DB01586 Ursodeoxycholic acid # DrugBank DB02659 Cholic Acid # DrugBank DB02703 Fusidic Acid # DrugBank DB03619 Deoxycholic Acid # DrugBank DB08901 Ponatinib # Ensembl ENST00000263817 ENSP00000263817; ENSG00000073734 # ExpressionAtlas O95342 baseline and differential # FUNCTION ABCBB_HUMAN Involved in the ATP-dependent secretion of bile salts into the canaliculus of hepatocytes. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0016020 membrane; TAS:ProtInc. # GO_component GO:0045177 apical part of cell; IEA:Ensembl. # GO_component GO:0046581 intercellular canaliculus; IEA:Ensembl. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0005215 transporter activity; TAS:ProtInc. # GO_function GO:0005524 ATP binding; TAS:ProtInc. # GO_function GO:0008554 sodium-exporting ATPase activity, phosphorylative mechanism; TAS:ProtInc. # GO_function GO:0015126 canalicular bile acid transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015432 bile acid-exporting ATPase activity; TAS:Reactome. # GO_process GO:0006699 bile acid biosynthetic process; TAS:Reactome. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0015721 bile acid and bile salt transport; TAS:Reactome. # GO_process GO:0015722 canalicular bile acid transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006629 lipid metabolic process # GOslim_process GO:0006810 transport # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0044281 small molecule metabolic process # Gene3D 3.40.50.300 -; 2. # Genevisible O95342 HS # HGNC HGNC:42 ABCB11 # IntAct O95342 2 # InterPro IPR003439 ABC_transporter-like # InterPro IPR003593 AAA+_ATPase # InterPro IPR011527 ABC1_TM_dom # InterPro IPR017871 ABC_transporter_CS # InterPro IPR027417 P-loop_NTPase # InterPro IPR030278 BSEP # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02000 Transporters # KEGG_Disease H00624 [Inherited metabolic disease; Liver disease] North American Indian childhood cirrhosis (NAIC) # KEGG_Pathway ko02010 ABC transporters # KEGG_Pathway ko04976 Bile secretion # MIM 601847 phenotype # MIM 603201 gene # MIM 605479 phenotype # Organism ABCBB_HUMAN Homo sapiens (Human) # Orphanet 69665 Intrahepatic cholestasis of pregnancy # Orphanet 79304 Progressive familial intrahepatic cholestasis type 2 # Orphanet 99961 Benign recurrent intrahepatic cholestasis type 2 # PANTHER PTHR24221:SF165 PTHR24221:SF165 # PROSITE PS00211 ABC_TRANSPORTER_1 # PROSITE PS50893 ABC_TRANSPORTER_2; 2 # PROSITE PS50929 ABC_TM1F; 2 # Pfam PF00005 ABC_tran; 2 # Pfam PF00664 ABC_membrane; 2 # Proteomes UP000005640 Chromosome 2 # Reactome R-HSA-159418 Recycling of bile acids and salts # Reactome R-HSA-193368 Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol # RecName ABCBB_HUMAN Bile salt export pump # RefSeq NP_003733 NM_003742.2 # SIMILARITY Belongs to the ABC transporter superfamily. ABCB family. Multidrug resistance exporter (TC 3.A.1.201) subfamily. {ECO 0000305}. # SIMILARITY Contains 2 ABC transmembrane type-1 domains. {ECO:0000255|PROSITE-ProRule PRU00441}. # SIMILARITY Contains 2 ABC transporter domains. {ECO:0000255|PROSITE-ProRule PRU00434}. # SMART SM00382 AAA; 2 # SUBCELLULAR LOCATION ABCBB_HUMAN Membrane; Multi-pass membrane protein. # SUBUNIT Interacts with HAX1. {ECO 0000250}. # SUPFAM SSF52540 SSF52540; 2 # SUPFAM SSF90123 SSF90123; 3 # TCDB 3.A.1.201 the atp-binding cassette (abc) superfamily # TISSUE SPECIFICITY ABCBB_HUMAN Expressed predominantly, if not exclusively in the liver, where it was further localized to the canalicular microvilli and to subcanalicular vesicles of the hepatocytes by in situ. # UCSC uc002ueo human # WEB RESOURCE ABCBB_HUMAN Name=ABCMdb; Note=Database for mutations in ABC proteins; URL="http //abcmutations.hegelab.org/proteinDetails?uniprot_id=O95342"; # eggNOG COG1132 LUCA # eggNOG KOG0055 Eukaryota BLAST swissprot:ABCBB_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ABCBB_HUMAN BioCyc ZFISH:ENSG00000073734-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000073734-MONOMER COXPRESdb 8647 http://coxpresdb.jp/data/gene/8647.shtml CleanEx HS_ABCB11 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ABCB11 DOI 10.1002/hep.21214 http://dx.doi.org/10.1002/hep.21214 DOI 10.1007/s10038-002-8653-6 http://dx.doi.org/10.1007/s10038-002-8653-6 DOI 10.1016/S0016-5085(99)70287-8 http://dx.doi.org/10.1016/S0016-5085(99)70287-8 DOI 10.1016/j.jhep.2005.05.020 http://dx.doi.org/10.1016/j.jhep.2005.05.020 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1038/3034 http://dx.doi.org/10.1038/3034 DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1053/j.gastro.2004.04.065 http://dx.doi.org/10.1053/j.gastro.2004.04.065 DOI 10.1067/mpd.2002.119993 http://dx.doi.org/10.1067/mpd.2002.119993 DOI 10.1097/00008571-200402000-00003 http://dx.doi.org/10.1097/00008571-200402000-00003 DOI 10.1097/01.fpc.0000230418.28091.76 http://dx.doi.org/10.1097/01.fpc.0000230418.28091.76 DOI 10.1124/dmd.105.008854 http://dx.doi.org/10.1124/dmd.105.008854 DOI 10.1152/ajpgi.00415.2006 http://dx.doi.org/10.1152/ajpgi.00415.2006 DOI 10.3892/mmr.2014.2349 http://dx.doi.org/10.3892/mmr.2014.2349 DrugBank DB00091 http://www.drugbank.ca/drugs/DB00091 DrugBank DB00171 http://www.drugbank.ca/drugs/DB00171 DrugBank DB00175 http://www.drugbank.ca/drugs/DB00175 DrugBank DB00206 http://www.drugbank.ca/drugs/DB00206 DrugBank DB00390 http://www.drugbank.ca/drugs/DB00390 DrugBank DB00396 http://www.drugbank.ca/drugs/DB00396 DrugBank DB00477 http://www.drugbank.ca/drugs/DB00477 DrugBank DB00501 http://www.drugbank.ca/drugs/DB00501 DrugBank DB00541 http://www.drugbank.ca/drugs/DB00541 DrugBank DB00559 http://www.drugbank.ca/drugs/DB00559 DrugBank DB00570 http://www.drugbank.ca/drugs/DB00570 DrugBank DB00661 http://www.drugbank.ca/drugs/DB00661 DrugBank DB00675 http://www.drugbank.ca/drugs/DB00675 DrugBank DB00693 http://www.drugbank.ca/drugs/DB00693 DrugBank DB00694 http://www.drugbank.ca/drugs/DB00694 DrugBank DB00845 http://www.drugbank.ca/drugs/DB00845 DrugBank DB00908 http://www.drugbank.ca/drugs/DB00908 DrugBank DB00977 http://www.drugbank.ca/drugs/DB00977 DrugBank DB00997 http://www.drugbank.ca/drugs/DB00997 DrugBank DB01016 http://www.drugbank.ca/drugs/DB01016 DrugBank DB01026 http://www.drugbank.ca/drugs/DB01026 DrugBank DB01045 http://www.drugbank.ca/drugs/DB01045 DrugBank DB01051 http://www.drugbank.ca/drugs/DB01051 DrugBank DB01098 http://www.drugbank.ca/drugs/DB01098 DrugBank DB01174 http://www.drugbank.ca/drugs/DB01174 DrugBank DB01229 http://www.drugbank.ca/drugs/DB01229 DrugBank DB01234 http://www.drugbank.ca/drugs/DB01234 DrugBank DB01586 http://www.drugbank.ca/drugs/DB01586 DrugBank DB02659 http://www.drugbank.ca/drugs/DB02659 DrugBank DB02703 http://www.drugbank.ca/drugs/DB02703 DrugBank DB03619 http://www.drugbank.ca/drugs/DB03619 DrugBank DB08901 http://www.drugbank.ca/drugs/DB08901 EMBL AC008177 http://www.ebi.ac.uk/ena/data/view/AC008177 EMBL AC069137 http://www.ebi.ac.uk/ena/data/view/AC069137 EMBL AC093723 http://www.ebi.ac.uk/ena/data/view/AC093723 EMBL AF091582 http://www.ebi.ac.uk/ena/data/view/AF091582 EMBL AF136523 http://www.ebi.ac.uk/ena/data/view/AF136523 Ensembl ENST00000263817 http://www.ensembl.org/id/ENST00000263817 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0045177 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045177 GO_component GO:0046581 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046581 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0005215 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005215 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0008554 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008554 GO_function GO:0015126 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015126 GO_function GO:0015432 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015432 GO_process GO:0006699 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006699 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0015721 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015721 GO_process GO:0015722 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015722 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006629 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006629 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 Gene3D 3.40.50.300 http://www.cathdb.info/version/latest/superfamily/3.40.50.300 GeneCards ABCB11 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ABCB11 GeneID 8647 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=8647 GeneTree ENSGT00530000062896 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000062896 H-InvDB HIX0029772 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0029772 HGNC HGNC:42 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:42 HOVERGEN HBG080809 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG080809&db=HOVERGEN HPA HPA019035 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA019035 InParanoid O95342 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O95342 IntAct O95342 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O95342* InterPro IPR003439 http://www.ebi.ac.uk/interpro/entry/IPR003439 InterPro IPR003593 http://www.ebi.ac.uk/interpro/entry/IPR003593 InterPro IPR011527 http://www.ebi.ac.uk/interpro/entry/IPR011527 InterPro IPR017871 http://www.ebi.ac.uk/interpro/entry/IPR017871 InterPro IPR027417 http://www.ebi.ac.uk/interpro/entry/IPR027417 InterPro IPR030278 http://www.ebi.ac.uk/interpro/entry/IPR030278 Jabion 8647 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=8647 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Disease H00624 http://www.genome.jp/dbget-bin/www_bget?H00624 KEGG_Gene hsa:8647 http://www.genome.jp/dbget-bin/www_bget?hsa:8647 KEGG_Orthology KO:K05664 http://www.genome.jp/dbget-bin/www_bget?KO:K05664 KEGG_Pathway ko02010 http://www.genome.jp/kegg-bin/show_pathway?ko02010 KEGG_Pathway ko04976 http://www.genome.jp/kegg-bin/show_pathway?ko04976 MIM 601847 http://www.ncbi.nlm.nih.gov/omim/601847 MIM 603201 http://www.ncbi.nlm.nih.gov/omim/603201 MIM 605479 http://www.ncbi.nlm.nih.gov/omim/605479 MINT MINT-5003953 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-5003953 OMA CAFLHGI http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=CAFLHGI Orphanet 69665 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=69665 Orphanet 79304 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=79304 Orphanet 99961 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=99961 OrthoDB EOG091G0HVA http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0HVA PANTHER PTHR24221:SF165 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24221:SF165 PROSITE PS00211 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00211 PROSITE PS50893 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50893 PROSITE PS50929 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50929 PSORT swissprot:ABCBB_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ABCBB_HUMAN PSORT-B swissprot:ABCBB_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ABCBB_HUMAN PSORT2 swissprot:ABCBB_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ABCBB_HUMAN Pfam PF00005 http://pfam.xfam.org/family/PF00005 Pfam PF00664 http://pfam.xfam.org/family/PF00664 PharmGKB PA374 http://www.pharmgkb.org/do/serve?objId=PA374&objCls=Gene Phobius swissprot:ABCBB_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ABCBB_HUMAN PhylomeDB O95342 http://phylomedb.org/?seqid=O95342 ProteinModelPortal O95342 http://www.proteinmodelportal.org/query/uniprot/O95342 PubMed 10579978 http://www.ncbi.nlm.nih.gov/pubmed/10579978 PubMed 11815775 http://www.ncbi.nlm.nih.gov/pubmed/11815775 PubMed 11829140 http://www.ncbi.nlm.nih.gov/pubmed/11829140 PubMed 15077010 http://www.ncbi.nlm.nih.gov/pubmed/15077010 PubMed 15300568 http://www.ncbi.nlm.nih.gov/pubmed/15300568 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 PubMed 16039748 http://www.ncbi.nlm.nih.gov/pubmed/16039748 PubMed 16763017 http://www.ncbi.nlm.nih.gov/pubmed/16763017 PubMed 16799996 http://www.ncbi.nlm.nih.gov/pubmed/16799996 PubMed 17082223 http://www.ncbi.nlm.nih.gov/pubmed/17082223 PubMed 17264802 http://www.ncbi.nlm.nih.gov/pubmed/17264802 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 24969679 http://www.ncbi.nlm.nih.gov/pubmed/24969679 PubMed 9806540 http://www.ncbi.nlm.nih.gov/pubmed/9806540 Reactome R-HSA-159418 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-159418 Reactome R-HSA-193368 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-193368 RefSeq NP_003733 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_003733 SMART SM00382 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00382 SMR O95342 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=O95342 STRING 9606.ENSP00000263817 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000263817&targetmode=cogs SUPFAM SSF52540 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52540 SUPFAM SSF90123 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF90123 TCDB 3.A.1.201 http://www.tcdb.org/search/result.php?tc=3.A.1.201 UCSC uc002ueo http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002ueo&org=rat UniGene Hs.658439 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.658439 UniProtKB ABCBB_HUMAN http://www.uniprot.org/uniprot/ABCBB_HUMAN UniProtKB-AC O95342 http://www.uniprot.org/uniprot/O95342 charge swissprot:ABCBB_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ABCBB_HUMAN eggNOG COG1132 http://eggnogapi.embl.de/nog_data/html/tree/COG1132 eggNOG KOG0055 http://eggnogapi.embl.de/nog_data/html/tree/KOG0055 epestfind swissprot:ABCBB_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ABCBB_HUMAN garnier swissprot:ABCBB_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ABCBB_HUMAN helixturnhelix swissprot:ABCBB_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ABCBB_HUMAN hmoment swissprot:ABCBB_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ABCBB_HUMAN iep swissprot:ABCBB_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ABCBB_HUMAN inforesidue swissprot:ABCBB_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ABCBB_HUMAN neXtProt NX_O95342 http://www.nextprot.org/db/entry/NX_O95342 octanol swissprot:ABCBB_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ABCBB_HUMAN pepcoil swissprot:ABCBB_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ABCBB_HUMAN pepdigest swissprot:ABCBB_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ABCBB_HUMAN pepinfo swissprot:ABCBB_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ABCBB_HUMAN pepnet swissprot:ABCBB_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ABCBB_HUMAN pepstats swissprot:ABCBB_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ABCBB_HUMAN pepwheel swissprot:ABCBB_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ABCBB_HUMAN pepwindow swissprot:ABCBB_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ABCBB_HUMAN sigcleave swissprot:ABCBB_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ABCBB_HUMAN ## Database ID URL or Descriptions # AltName KCNKC_HUMAN Tandem pore domain halothane-inhibited potassium channel 2 # Ensembl ENST00000327876 ENSP00000327611; ENSG00000184261 # FUNCTION KCNKC_HUMAN Probable potassium channel subunit. No channel activity observed in heterologous systems. May need to associate with another protein to form a functional channel (By similarity). {ECO 0000250}. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_function GO:0005244 voltage-gated ion channel activity; IEA:UniProtKB-KW. # GO_function GO:0022841 potassium ion leak channel activity; IBA:GO_Central. # GO_process GO:0030322 stabilization of membrane potential; IBA:GO_Central. # GO_process GO:0071805 potassium ion transmembrane transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0008150 biological_process # GOslim_process GO:0055085 transmembrane transport # Genevisible Q9HB15 HS # HGNC HGNC:6274 KCNK12 # InterPro IPR003280 2pore_dom_K_chnl # InterPro IPR005410 2pore_dom_K_chnl_THIK # InterPro IPR013099 K_chnl_dom # KEGG_Brite ko04040 Ion channels # MIM 607366 gene # Organism KCNKC_HUMAN Homo sapiens (Human) # PRINTS PR01333 2POREKCHANEL # PRINTS PR01588 THIKCHANNEL # Pfam PF07885 Ion_trans_2; 2 # Proteomes UP000005640 Chromosome 2 # Reactome R-HSA-5576886 Phase 4 - resting membrane potential # RecName KCNKC_HUMAN Potassium channel subfamily K member 12 # RefSeq NP_071338 NM_022055.1 # SIMILARITY Belongs to the two pore domain potassium channel (TC 1.A.1.8) family. {ECO 0000305}. # SUBCELLULAR LOCATION KCNKC_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # SUBUNIT Heterodimer. {ECO 0000305}. # UCSC uc002rwb human # eggNOG ENOG410XRZJ LUCA # eggNOG KOG4404 Eukaryota BLAST swissprot:KCNKC_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCNKC_HUMAN BioCyc ZFISH:G66-31450-MONOMER http://biocyc.org/getid?id=ZFISH:G66-31450-MONOMER COXPRESdb 56660 http://coxpresdb.jp/data/gene/56660.shtml CleanEx HS_KCNK12 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNK12 DOI 10.1074/jbc.M008985200 http://dx.doi.org/10.1074/jbc.M008985200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AF287302 http://www.ebi.ac.uk/ena/data/view/AF287302 EMBL BC047749 http://www.ebi.ac.uk/ena/data/view/BC047749 Ensembl ENST00000327876 http://www.ensembl.org/id/ENST00000327876 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0005244 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005244 GO_function GO:0022841 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022841 GO_process GO:0030322 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030322 GO_process GO:0071805 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071805 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards KCNK12 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNK12 GeneID 56660 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=56660 GeneTree ENSGT00860000133807 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00860000133807 HGNC HGNC:6274 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6274 HOGENOM HOG000013227 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000013227&db=HOGENOM6 HOVERGEN HBG052238 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052238&db=HOVERGEN HPA CAB025604 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB025604 InParanoid Q9HB15 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9HB15 IntAct Q9HB15 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9HB15* InterPro IPR003280 http://www.ebi.ac.uk/interpro/entry/IPR003280 InterPro IPR005410 http://www.ebi.ac.uk/interpro/entry/IPR005410 InterPro IPR013099 http://www.ebi.ac.uk/interpro/entry/IPR013099 Jabion 56660 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=56660 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:56660 http://www.genome.jp/dbget-bin/www_bget?hsa:56660 KEGG_Orthology KO:K04921 http://www.genome.jp/dbget-bin/www_bget?KO:K04921 MIM 607366 http://www.ncbi.nlm.nih.gov/omim/607366 OMA MISMRDL http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=MISMRDL OrthoDB EOG091G06SB http://cegg.unige.ch/orthodb/results?searchtext=EOG091G06SB PRINTS PR01333 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01333 PRINTS PR01588 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01588 PSORT swissprot:KCNKC_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCNKC_HUMAN PSORT-B swissprot:KCNKC_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCNKC_HUMAN PSORT2 swissprot:KCNKC_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCNKC_HUMAN Pfam PF07885 http://pfam.xfam.org/family/PF07885 PharmGKB PA30054 http://www.pharmgkb.org/do/serve?objId=PA30054&objCls=Gene Phobius swissprot:KCNKC_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCNKC_HUMAN PhylomeDB Q9HB15 http://phylomedb.org/?seqid=Q9HB15 ProteinModelPortal Q9HB15 http://www.proteinmodelportal.org/query/uniprot/Q9HB15 PubMed 11060316 http://www.ncbi.nlm.nih.gov/pubmed/11060316 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 Reactome R-HSA-5576886 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576886 RefSeq NP_071338 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_071338 STRING 9606.ENSP00000327611 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000327611&targetmode=cogs UCSC uc002rwb http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002rwb&org=rat UniGene Hs.591586 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.591586 UniProtKB KCNKC_HUMAN http://www.uniprot.org/uniprot/KCNKC_HUMAN UniProtKB-AC Q9HB15 http://www.uniprot.org/uniprot/Q9HB15 charge swissprot:KCNKC_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCNKC_HUMAN eggNOG ENOG410XRZJ http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XRZJ eggNOG KOG4404 http://eggnogapi.embl.de/nog_data/html/tree/KOG4404 epestfind swissprot:KCNKC_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCNKC_HUMAN garnier swissprot:KCNKC_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCNKC_HUMAN helixturnhelix swissprot:KCNKC_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCNKC_HUMAN hmoment swissprot:KCNKC_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCNKC_HUMAN iep swissprot:KCNKC_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCNKC_HUMAN inforesidue swissprot:KCNKC_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCNKC_HUMAN neXtProt NX_Q9HB15 http://www.nextprot.org/db/entry/NX_Q9HB15 octanol swissprot:KCNKC_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCNKC_HUMAN pepcoil swissprot:KCNKC_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCNKC_HUMAN pepdigest swissprot:KCNKC_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCNKC_HUMAN pepinfo swissprot:KCNKC_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCNKC_HUMAN pepnet swissprot:KCNKC_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCNKC_HUMAN pepstats swissprot:KCNKC_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCNKC_HUMAN pepwheel swissprot:KCNKC_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCNKC_HUMAN pepwindow swissprot:KCNKC_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCNKC_HUMAN sigcleave swissprot:KCNKC_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCNKC_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS KCNJ3_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P48549-1; Sequence=Displayed; Name=2; IsoId=P48549-2; Sequence=VSP_045432, VSP_045433; # AltName KCNJ3_HUMAN Inward rectifier K(+) channel Kir3.1 # AltName KCNJ3_HUMAN Potassium channel, inwardly rectifying subfamily J member 3 # BioGrid 109962 5 # CCDS CCDS2200 -. [P48549-1] # CCDS CCDS58733 -. [P48549-2] # ChiTaRS KCNJ3 human # DrugBank DB00898 Ethanol # DrugBank DB01159 Halothane # Ensembl ENST00000295101 ENSP00000295101; ENSG00000162989. [P48549-1] # Ensembl ENST00000544049 ENSP00000438410; ENSG00000162989. [P48549-2] # FUNCTION KCNJ3_HUMAN This potassium channel is controlled by G proteins. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. This receptor plays a crucial role in regulating the heartbeat. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0008076 voltage-gated potassium channel complex; TAS:ProtInc. # GO_component GO:0009897 external side of plasma membrane; IEA:Ensembl. # GO_component GO:0030315 T-tubule; IEA:Ensembl. # GO_function GO:0015467 G-protein activated inward rectifier potassium channel activity; TAS:Reactome. # GO_process GO:0006813 potassium ion transport; TAS:ProtInc. # GO_process GO:0010107 potassium ion import; IBA:GO_Central. # GO_process GO:0051602 response to electrical stimulus; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0055085 transmembrane transport # Gene3D 2.60.40.1400 -; 1. # Genevisible P48549 HS # HGNC HGNC:6264 KCNJ3 # InterPro IPR003274 K_chnl_inward-rec_Kir3.1 # InterPro IPR013518 K_chnl_inward-rec_Kir_cyto # InterPro IPR014756 Ig_E-set # InterPro IPR016449 K_chnl_inward-rec_Kir # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04713 Circadian entrainment # KEGG_Pathway ko04723 Retrograde endocannabinoid signaling # KEGG_Pathway ko04724 Glutamatergic synapse # KEGG_Pathway ko04725 Cholinergic synapse # KEGG_Pathway ko04726 Serotonergic synapse # KEGG_Pathway ko04728 Dopaminergic synapse # KEGG_Pathway ko05032 Morphine addiction # MIM 601534 gene # Organism KCNJ3_HUMAN Homo sapiens (Human) # PANTHER PTHR11767 PTHR11767 # PIR G02468 G02468 # PRINTS PR01320 KIRCHANNEL # PRINTS PR01327 KIR31CHANNEL # Pfam PF01007 IRK # Proteomes UP000005640 Chromosome 2 # Reactome R-HSA-1296041 Activation of G protein gated Potassium channels # Reactome R-HSA-997272 Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits # RecName KCNJ3_HUMAN G protein-activated inward rectifier potassium channel 1 # RefSeq NP_001247437 NM_001260508.1. [P48549-2] # RefSeq NP_001247438 NM_001260509.1 # RefSeq NP_001247439 NM_001260510.1 # RefSeq NP_002230 NM_002239.3. [P48549-1] # SIMILARITY Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ3 subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION KCNJ3_HUMAN Membrane; Multi-pass membrane protein. # SUBUNIT Associates with GIRK2, GIRK3 or GIRK4 to form a G-protein activated heteromultimer pore-forming unit. The resulting inward current is much larger (By similarity). {ECO 0000250}. # SUPFAM SSF81296 SSF81296 # TCDB 1.A.2.1.12 inward rectifier k(+) channel (irk-c) family # UCSC uc002tyv human. [P48549-1] # eggNOG ENOG410XQ62 LUCA # eggNOG KOG3827 Eukaryota BLAST swissprot:KCNJ3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCNJ3_HUMAN BioCyc ZFISH:ENSG00000162989-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000162989-MONOMER COXPRESdb 3760 http://coxpresdb.jp/data/gene/3760.shtml CleanEx HS_KCNJ3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNJ3 DOI 10.1016/0169-328X(95)00349-W http://dx.doi.org/10.1016/0169-328X(95)00349-W DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.M005338200 http://dx.doi.org/10.1074/jbc.M005338200 DOI 10.1085/jgp.107.3.381 http://dx.doi.org/10.1085/jgp.107.3.381 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DrugBank DB00898 http://www.drugbank.ca/drugs/DB00898 DrugBank DB01159 http://www.drugbank.ca/drugs/DB01159 EMBL AC061961 http://www.ebi.ac.uk/ena/data/view/AC061961 EMBL AC093633 http://www.ebi.ac.uk/ena/data/view/AC093633 EMBL AC107060 http://www.ebi.ac.uk/ena/data/view/AC107060 EMBL AK293824 http://www.ebi.ac.uk/ena/data/view/AK293824 EMBL BC022495 http://www.ebi.ac.uk/ena/data/view/BC022495 EMBL GU074515 http://www.ebi.ac.uk/ena/data/view/GU074515 EMBL U39196 http://www.ebi.ac.uk/ena/data/view/U39196 EMBL U50964 http://www.ebi.ac.uk/ena/data/view/U50964 Ensembl ENST00000295101 http://www.ensembl.org/id/ENST00000295101 Ensembl ENST00000544049 http://www.ensembl.org/id/ENST00000544049 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0008076 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008076 GO_component GO:0009897 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009897 GO_component GO:0030315 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030315 GO_function GO:0015467 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015467 GO_process GO:0006813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006813 GO_process GO:0010107 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010107 GO_process GO:0051602 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051602 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 2.60.40.1400 http://www.cathdb.info/version/latest/superfamily/2.60.40.1400 GeneCards KCNJ3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNJ3 GeneID 3760 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=3760 GeneTree ENSGT00760000118842 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118842 HGNC HGNC:6264 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6264 HOGENOM HOG000237325 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000237325&db=HOGENOM6 HOVERGEN HBG006178 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG006178&db=HOVERGEN HPA HPA024231 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA024231 InParanoid P48549 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P48549 InterPro IPR003274 http://www.ebi.ac.uk/interpro/entry/IPR003274 InterPro IPR013518 http://www.ebi.ac.uk/interpro/entry/IPR013518 InterPro IPR014756 http://www.ebi.ac.uk/interpro/entry/IPR014756 InterPro IPR016449 http://www.ebi.ac.uk/interpro/entry/IPR016449 Jabion 3760 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=3760 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:3760 http://www.genome.jp/dbget-bin/www_bget?hsa:3760 KEGG_Orthology KO:K04997 http://www.genome.jp/dbget-bin/www_bget?KO:K04997 KEGG_Pathway ko04713 http://www.genome.jp/kegg-bin/show_pathway?ko04713 KEGG_Pathway ko04723 http://www.genome.jp/kegg-bin/show_pathway?ko04723 KEGG_Pathway ko04724 http://www.genome.jp/kegg-bin/show_pathway?ko04724 KEGG_Pathway ko04725 http://www.genome.jp/kegg-bin/show_pathway?ko04725 KEGG_Pathway ko04726 http://www.genome.jp/kegg-bin/show_pathway?ko04726 KEGG_Pathway ko04728 http://www.genome.jp/kegg-bin/show_pathway?ko04728 KEGG_Pathway ko05032 http://www.genome.jp/kegg-bin/show_pathway?ko05032 MIM 601534 http://www.ncbi.nlm.nih.gov/omim/601534 OMA NQPPPEK http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=NQPPPEK OrthoDB EOG091G08HC http://cegg.unige.ch/orthodb/results?searchtext=EOG091G08HC PANTHER PTHR11767 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11767 PRINTS PR01320 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01320 PRINTS PR01327 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01327 PSORT swissprot:KCNJ3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCNJ3_HUMAN PSORT-B swissprot:KCNJ3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCNJ3_HUMAN PSORT2 swissprot:KCNJ3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCNJ3_HUMAN Pfam PF01007 http://pfam.xfam.org/family/PF01007 PharmGKB PA215 http://www.pharmgkb.org/do/serve?objId=PA215&objCls=Gene Phobius swissprot:KCNJ3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCNJ3_HUMAN PhylomeDB P48549 http://phylomedb.org/?seqid=P48549 ProteinModelPortal P48549 http://www.proteinmodelportal.org/query/uniprot/P48549 PubMed 10889209 http://www.ncbi.nlm.nih.gov/pubmed/10889209 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 PubMed 8804710 http://www.ncbi.nlm.nih.gov/pubmed/8804710 PubMed 8868049 http://www.ncbi.nlm.nih.gov/pubmed/8868049 Reactome R-HSA-1296041 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1296041 Reactome R-HSA-997272 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-997272 RefSeq NP_001247437 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001247437 RefSeq NP_001247438 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001247438 RefSeq NP_001247439 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001247439 RefSeq NP_002230 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_002230 SMR P48549 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P48549 STRING 9606.ENSP00000295101 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000295101&targetmode=cogs SUPFAM SSF81296 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81296 TCDB 1.A.2.1.12 http://www.tcdb.org/search/result.php?tc=1.A.2.1.12 UCSC uc002tyv http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002tyv&org=rat UniGene Hs.591606 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.591606 UniProtKB KCNJ3_HUMAN http://www.uniprot.org/uniprot/KCNJ3_HUMAN UniProtKB-AC P48549 http://www.uniprot.org/uniprot/P48549 charge swissprot:KCNJ3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCNJ3_HUMAN eggNOG ENOG410XQ62 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XQ62 eggNOG KOG3827 http://eggnogapi.embl.de/nog_data/html/tree/KOG3827 epestfind swissprot:KCNJ3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCNJ3_HUMAN garnier swissprot:KCNJ3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCNJ3_HUMAN helixturnhelix swissprot:KCNJ3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCNJ3_HUMAN hmoment swissprot:KCNJ3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCNJ3_HUMAN iep swissprot:KCNJ3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCNJ3_HUMAN inforesidue swissprot:KCNJ3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCNJ3_HUMAN neXtProt NX_P48549 http://www.nextprot.org/db/entry/NX_P48549 octanol swissprot:KCNJ3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCNJ3_HUMAN pepcoil swissprot:KCNJ3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCNJ3_HUMAN pepdigest swissprot:KCNJ3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCNJ3_HUMAN pepinfo swissprot:KCNJ3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCNJ3_HUMAN pepnet swissprot:KCNJ3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCNJ3_HUMAN pepstats swissprot:KCNJ3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCNJ3_HUMAN pepwheel swissprot:KCNJ3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCNJ3_HUMAN pepwindow swissprot:KCNJ3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCNJ3_HUMAN sigcleave swissprot:KCNJ3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCNJ3_HUMAN ## Database ID URL or Descriptions # AltName KCNA6_HUMAN Voltage-gated potassium channel subunit Kv1.6 # AltName Voltage-gated potassium channel HBK2 {ECO:0000303|PubMed 2347305} # BioGrid 109944 11 # ChiTaRS KCNA6 human # DOMAIN KCNA6_HUMAN The N-terminus may be important in determining the rate of inactivation of the channel while the tail may play a role in modulation of channel activity and/or targeting of the channel to specific subcellular compartments. # DOMAIN KCNA6_HUMAN The transmembrane segment S4 functions as voltage-sensor and is characterized by a series of positively charged amino acids at every third position. Channel opening and closing is effected by a conformation change that affects the position and orientation of the voltage-sensor paddle formed by S3 and S4 within the membrane. A transmembrane electric field that is positive inside would push the positively charged S4 segment outwards, thereby opening the pore, while a field that is negative inside would pull the S4 segment inwards and close the pore. Changes in the position and orientation of S4 are then transmitted to the activation gate formed by the inner helix bundle via the S4-S5 linker region. {ECO 0000250|UniProtKB P63142}. # DrugBank DB06637 Dalfampridine # Ensembl ENST00000280684 ENSP00000280684; ENSG00000151079 # ExpressionAtlas P17658 baseline and differential # FUNCTION KCNA6_HUMAN Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes. Forms tetrameric potassium-selective channels through which potassium ions pass in accordance with their electrochemical gradient (PubMed 2347305, PubMed 14575698). The channel alternates between opened and closed conformations in response to the voltage difference across the membrane (PubMed 2347305, PubMed 14575698). Can form functional homotetrameric channels and heterotetrameric channels that contain variable proportions of KCNA1, KCNA2, KCNA4, KCNA6, and possibly other family members as well; channel properties depend on the type of alpha subunits that are part of the channel (By similarity). Channel properties are modulated by cytoplasmic beta subunits that regulate the subcellular location of the alpha subunits and promote rapid inactivation (By similarity). Homotetrameric channels display rapid activation and slow inactivation (PubMed 2347305). {ECO 0000250|UniProtKB P17659, ECO 0000269|PubMed 14575698, ECO 0000269|PubMed 2347305}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IMP:UniProtKB. # GO_component GO:0008076 voltage-gated potassium channel complex; ISS:UniProtKB. # GO_component GO:0034705 potassium channel complex; ISS:UniProtKB. # GO_component GO:0043679 axon terminus; IEA:Ensembl. # GO_function GO:0005249 voltage-gated potassium channel activity; TAS:ProtInc. # GO_function GO:0005251 delayed rectifier potassium channel activity; IDA:UniProtKB. # GO_process GO:0006813 potassium ion transport; TAS:ProtInc. # GO_process GO:0051260 protein homooligomerization; IEA:InterPro. # GO_process GO:0071805 potassium ion transmembrane transport; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.20.120.350 -; 1. # Genevisible P17658 HS # HGNC HGNC:6225 KCNA6 # IntAct P17658 2 # InterPro IPR000210 BTB/POZ_dom # InterPro IPR003131 T1-type_BTB # InterPro IPR003968 K_chnl_volt-dep_Kv # InterPro IPR003972 K_chnl_volt-dep_Kv1 # InterPro IPR004053 K_chnl_volt-dep_Kv1.6 # InterPro IPR005821 Ion_trans_dom # InterPro IPR011333 SKP1/BTB/POZ # InterPro IPR027359 Channel_four-helix_dom # InterPro IPR028325 VG_K_chnl # KEGG_Brite ko04040 Ion channels # MIM 176257 gene # Organism KCNA6_HUMAN Homo sapiens (Human) # PANTHER PTHR11537 PTHR11537; 3 # PIR S12787 S12787 # PRINTS PR00169 KCHANNEL # PRINTS PR01491 KVCHANNEL # PRINTS PR01496 SHAKERCHANEL # PRINTS PR01513 KV16CHANNEL # Pfam PF00520 Ion_trans # Pfam PF02214 BTB_2 # Proteomes UP000005640 Chromosome 12 # Reactome R-HSA-1296072 Voltage gated Potassium channels # RecName KCNA6_HUMAN Potassium voltage-gated channel subfamily A member 6 # RefSeq NP_002226 NM_002235.3 # RefSeq XP_005253743 XM_005253686.3 # RefSeq XP_011519257 XM_011520955.2 # RefSeq XP_016874759 XM_017019270.1 # RefSeq XP_016874760 XM_017019271.1 # RefSeq XP_016874761 XM_017019272.1 # SIMILARITY Belongs to the potassium channel family. A (Shaker) (TC 1.A.1.2) subfamily. Kv1.6/KCNA6 sub-subfamily. {ECO 0000305}. # SMART SM00225 BTB # SUBCELLULAR LOCATION KCNA6_HUMAN Cell membrane {ECO 0000269|PubMed 14575698, ECO 0000269|PubMed 2347305}; Multi-pass membrane protein {ECO 0000305}. # SUBUNIT Homotetramer and heterotetramer of potassium channel proteins (By similarity). Interacts with KCNAB1 and KCNAB2 (By similarity). {ECO:0000250|UniProtKB P17659, ECO:0000305}. # SUPFAM SSF54695 SSF54695 # UCSC uc001qng human # eggNOG COG1226 LUCA # eggNOG KOG1545 Eukaryota BLAST swissprot:KCNA6_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCNA6_HUMAN BioCyc ZFISH:ENSG00000151079-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000151079-MONOMER COXPRESdb 3742 http://coxpresdb.jp/data/gene/3742.shtml CleanEx HS_KCNA6 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNA6 DOI 10.1016/j.bbrc.2003.09.167 http://dx.doi.org/10.1016/j.bbrc.2003.09.167 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DrugBank DB06637 http://www.drugbank.ca/drugs/DB06637 EMBL BC069355 http://www.ebi.ac.uk/ena/data/view/BC069355 EMBL X17622 http://www.ebi.ac.uk/ena/data/view/X17622 Ensembl ENST00000280684 http://www.ensembl.org/id/ENST00000280684 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0008076 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008076 GO_component GO:0034705 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034705 GO_component GO:0043679 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043679 GO_function GO:0005249 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005249 GO_function GO:0005251 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005251 GO_process GO:0006813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006813 GO_process GO:0051260 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051260 GO_process GO:0071805 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071805 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.20.120.350 http://www.cathdb.info/version/latest/superfamily/1.20.120.350 GeneCards KCNA6 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNA6 GeneID 3742 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=3742 GeneTree ENSGT00670000097647 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00670000097647 GeneTree ENSGT00760000118846 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118846 HGNC HGNC:6225 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6225 HOGENOM HOG000231015 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231015&db=HOGENOM6 HOVERGEN HBG052230 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052230&db=HOVERGEN HPA CAB011539 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB011539 HPA HPA014418 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA014418 InParanoid P17658 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P17658 IntAct P17658 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P17658* InterPro IPR000210 http://www.ebi.ac.uk/interpro/entry/IPR000210 InterPro IPR003131 http://www.ebi.ac.uk/interpro/entry/IPR003131 InterPro IPR003968 http://www.ebi.ac.uk/interpro/entry/IPR003968 InterPro IPR003972 http://www.ebi.ac.uk/interpro/entry/IPR003972 InterPro IPR004053 http://www.ebi.ac.uk/interpro/entry/IPR004053 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR011333 http://www.ebi.ac.uk/interpro/entry/IPR011333 InterPro IPR027359 http://www.ebi.ac.uk/interpro/entry/IPR027359 InterPro IPR028325 http://www.ebi.ac.uk/interpro/entry/IPR028325 Jabion 3742 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=3742 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:3742 http://www.genome.jp/dbget-bin/www_bget?hsa:3742 KEGG_Orthology KO:K04879 http://www.genome.jp/dbget-bin/www_bget?KO:K04879 MIM 176257 http://www.ncbi.nlm.nih.gov/omim/176257 OMA GKPEFSE http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=GKPEFSE OrthoDB EOG091G10NU http://cegg.unige.ch/orthodb/results?searchtext=EOG091G10NU PANTHER PTHR11537 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11537 PRINTS PR00169 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00169 PRINTS PR01491 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01491 PRINTS PR01496 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01496 PRINTS PR01513 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01513 PSORT swissprot:KCNA6_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCNA6_HUMAN PSORT-B swissprot:KCNA6_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCNA6_HUMAN PSORT2 swissprot:KCNA6_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCNA6_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF02214 http://pfam.xfam.org/family/PF02214 PharmGKB PA30022 http://www.pharmgkb.org/do/serve?objId=PA30022&objCls=Gene Phobius swissprot:KCNA6_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCNA6_HUMAN PhylomeDB P17658 http://phylomedb.org/?seqid=P17658 ProteinModelPortal P17658 http://www.proteinmodelportal.org/query/uniprot/P17658 PubMed 14575698 http://www.ncbi.nlm.nih.gov/pubmed/14575698 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 2347305 http://www.ncbi.nlm.nih.gov/pubmed/2347305 Reactome R-HSA-1296072 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1296072 RefSeq NP_002226 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_002226 RefSeq XP_005253743 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005253743 RefSeq XP_011519257 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011519257 RefSeq XP_016874759 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016874759 RefSeq XP_016874760 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016874760 RefSeq XP_016874761 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016874761 SMART SM00225 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00225 STRING 9606.ENSP00000280684 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000280684&targetmode=cogs SUPFAM SSF54695 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF54695 UCSC uc001qng http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001qng&org=rat UniGene Hs.306190 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.306190 UniProtKB KCNA6_HUMAN http://www.uniprot.org/uniprot/KCNA6_HUMAN UniProtKB-AC P17658 http://www.uniprot.org/uniprot/P17658 charge swissprot:KCNA6_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCNA6_HUMAN eggNOG COG1226 http://eggnogapi.embl.de/nog_data/html/tree/COG1226 eggNOG KOG1545 http://eggnogapi.embl.de/nog_data/html/tree/KOG1545 epestfind swissprot:KCNA6_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCNA6_HUMAN garnier swissprot:KCNA6_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCNA6_HUMAN helixturnhelix swissprot:KCNA6_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCNA6_HUMAN hmoment swissprot:KCNA6_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCNA6_HUMAN iep swissprot:KCNA6_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCNA6_HUMAN inforesidue swissprot:KCNA6_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCNA6_HUMAN neXtProt NX_P17658 http://www.nextprot.org/db/entry/NX_P17658 octanol swissprot:KCNA6_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCNA6_HUMAN pepcoil swissprot:KCNA6_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCNA6_HUMAN pepdigest swissprot:KCNA6_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCNA6_HUMAN pepinfo swissprot:KCNA6_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCNA6_HUMAN pepnet swissprot:KCNA6_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCNA6_HUMAN pepstats swissprot:KCNA6_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCNA6_HUMAN pepwheel swissprot:KCNA6_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCNA6_HUMAN pepwindow swissprot:KCNA6_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCNA6_HUMAN sigcleave swissprot:KCNA6_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCNA6_HUMAN ## Database ID URL or Descriptions # AltName XPO5_HUMAN Ran-binding protein 21 # BioGrid 121574 71 # ChiTaRS XPO5 human # Ensembl ENST00000265351 ENSP00000265351; ENSG00000124571 # ExpressionAtlas Q9HAV4 baseline and differential # FUNCTION XPO5_HUMAN Mediates the nuclear export of micro-RNA precursors, which form short hairpins. Also mediates the nuclear export of synthetic short hairpin RNAs used for RNA interference, and adenovirus VA1 dsRNA. In some circumstances can also mediate the nuclear export of deacylated and aminoacylated tRNAs. Specifically recognizes dsRNAs that lack a 5'-overhang in a sequence- independent manner, have only a short 3'-overhang, and that have a double-stranded length of at least 15 base-pairs. Binding is dependent on Ran-GTP. # FUNCTION XPO5_HUMAN Mediates the nuclear export of proteins bearing a double-stranded RNA binding domain (dsRBD) and double-stranded RNAs (cargos). XPO5 in the nucleus binds cooperatively to the RNA and to the GTPase Ran in its active GTP-bound form. Proteins containing dsRBDs can associate with this trimeric complex through the RNA. Docking of this complex to the nuclear pore complex (NPC) is mediated through binding to nucleoporins. Upon transit of a nuclear export complex into the cytoplasm, hydrolysis of Ran-GTP to Ran-GDP (induced by RANBP1 and RANGAP1, respectively) cause disassembly of the complex and release of the cargo from the export receptor. XPO5 then returns to the nuclear compartment by diffusion through the nuclear pore complex, to mediate another round of transport. The directionality of nuclear export is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. Overexpression may in some circumstances enhance RNA-mediated gene silencing (RNAi). Mediates nuclear export of isoform 5 of ADAR/ADAR1 in a RanGTP-dependent manner. # GO_component GO:0005634 nucleus; IDA:BHF-UCL. # GO_component GO:0005654 nucleoplasm; IDA:HPA. # GO_component GO:0005737 cytoplasm; IDA:BHF-UCL. # GO_component GO:0005829 cytosol; TAS:Reactome. # GO_component GO:0042565 RNA nuclear export complex; IDA:BHF-UCL. # GO_function GO:0000049 tRNA binding; IEA:UniProtKB-KW. # GO_function GO:0003723 RNA binding; TAS:Reactome. # GO_function GO:0003729 mRNA binding; IDA:BHF-UCL. # GO_function GO:0005049 nuclear export signal receptor activity; IBA:GO_Central. # GO_function GO:0008536 Ran GTPase binding; IDA:BHF-UCL. # GO_function GO:0044822 poly(A) RNA binding; IDA:UniProtKB. # GO_function GO:0070883 pre-miRNA binding; IDA:BHF-UCL. # GO_function GO:0090631 pre-miRNA transporter activity; IMP:BHF-UCL. # GO_process GO:0006611 protein export from nucleus; IDA:UniProtKB. # GO_process GO:0031047 gene silencing by RNA; TAS:Reactome. # GO_process GO:0035281 pre-miRNA export from nucleus; IDA:BHF-UCL. # GO_process GO:0046825 regulation of protein export from nucleus; IBA:GO_Central. # GO_process GO:1900370 positive regulation of RNA interference; IDA:BHF-UCL. # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005654 nucleoplasm # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005829 cytosol # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0003723 RNA binding # GOslim_function GO:0003729 mRNA binding # GOslim_function GO:0008565 protein transporter activity # GOslim_function GO:0019899 enzyme binding # GOslim_process GO:0006913 nucleocytoplasmic transport # GOslim_process GO:0008150 biological_process # Gene3D 1.25.10.10 -; 2. # Genevisible Q9HAV4 HS # HGNC HGNC:17675 XPO5 # IntAct Q9HAV4 23 # InterPro IPR001494 Importin-beta_N # InterPro IPR011989 ARM-like # InterPro IPR013598 Exportin-1/Importin-b-like # InterPro IPR016024 ARM-type_fold # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko03016 Transfer RNA biogenesis # KEGG_Pathway ko03013 RNA transport # MIM 607845 gene # Organism XPO5_HUMAN Homo sapiens (Human) # PDB 3A6P X-ray; 2.92 A; A/F=1-1204 # PIR T46411 T46411 # Pfam PF08389 Xpo1 # Proteomes UP000005640 Chromosome 6 # Reactome R-HSA-203927 MicroRNA (miRNA) biogenesis # RecName XPO5_HUMAN Exportin-5 # RefSeq NP_065801 NM_020750.2 # SEQUENCE CAUTION XPO5_HUMAN Sequence=AAH00129.1; Type=Erroneous initiation; Evidence={ECO 0000305}; Sequence=BAA86605.2; Type=Erroneous initiation; Evidence={ECO 0000305}; Sequence=BAA91547.1; Type=Frameshift; Positions=920; Evidence={ECO 0000305}; Sequence=CAI42640.1; Type=Erroneous gene model prediction; Evidence={ECO 0000305}; # SIMILARITY Belongs to the exportin family. {ECO 0000305}. # SMART SM00913 IBN_N # SUBCELLULAR LOCATION XPO5_HUMAN Nucleus {ECO 0000269|PubMed 11777942}. Cytoplasm {ECO 0000269|PubMed 11777942}. Note=Shuttles between the nucleus and the cytoplasm. # SUBUNIT XPO5_HUMAN Component of a nuclear export receptor complex composed of XPO5, Ran, dsRNA-binding proteins and dsRNA. Found in a nuclear export complex with XPO5, Ran, EEF1A1, and aminoacylated tRNA. Found in a nuclear export complex with XPO5, Ran, ILF3 and dsRNA. Found in a nuclear export complex with XPO5, Ran and pre-miRNA. Found in a nuclear export complex with XPO5, Ran, ILF3 and minihelix VA1 dsRNA. Found in a nuclear export complex with XPO5, RAN, ILF3, ZNF346 and dsRNA. Interacts with EEF1A1, ILF3, NUP153, NUP214 and ZNF346. Interacts with Ran and cargo proteins in a GTP- dependent manner. Interacts with isoform 5 of ADAR/ADAR1 (via DRBM domains). Interacts with SMAD4; mediates nuclear export of SMAD4 (PubMed 26878725). {ECO 0000269|PubMed 11777942, ECO 0000269|PubMed 12426392, ECO 0000269|PubMed 12426393, ECO 0000269|PubMed 14570900, ECO 0000269|PubMed 14631048, ECO 0000269|PubMed 14730017, ECO 0000269|PubMed 15254228, ECO 0000269|PubMed 19124606, ECO 0000269|PubMed 26878725}. # SUPFAM SSF48371 SSF48371; 4 # TCDB 1.I.1.1 the nuclear pore complex (npc) family # TISSUE SPECIFICITY Expressed in heart, brain, placenta, lung, skeletal muscle, kidney and pancreas. {ECO:0000269|PubMed 11777942}. # UCSC uc003ovp human # eggNOG COG5101 LUCA # eggNOG KOG2020 Eukaryota BLAST swissprot:XPO5_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:XPO5_HUMAN BioCyc ZFISH:ENSG00000124571-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000124571-MONOMER COXPRESdb 57510 http://coxpresdb.jp/data/gene/57510.shtml DIP DIP-34547N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-34547N DOI 10.1016/j.molcel.2008.07.007 http://dx.doi.org/10.1016/j.molcel.2008.07.007 DOI 10.1021/ac9004309 http://dx.doi.org/10.1021/ac9004309 DOI 10.1038/nature02055 http://dx.doi.org/10.1038/nature02055 DOI 10.1038/ng.3512 http://dx.doi.org/10.1038/ng.3512 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.C200668200 http://dx.doi.org/10.1074/jbc.C200668200 DOI 10.1074/jbc.M306808200 http://dx.doi.org/10.1074/jbc.M306808200 DOI 10.1074/mcp.M111.015131 http://dx.doi.org/10.1074/mcp.M111.015131 DOI 10.1083/jcb.200110082 http://dx.doi.org/10.1083/jcb.200110082 DOI 10.1093/dnares/6.5.337 http://dx.doi.org/10.1093/dnares/6.5.337 DOI 10.1093/dnares/9.3.99 http://dx.doi.org/10.1093/dnares/9.3.99 DOI 10.1093/emboj/cdf613 http://dx.doi.org/10.1093/emboj/cdf613 DOI 10.1093/emboj/cdf620 http://dx.doi.org/10.1093/emboj/cdf620 DOI 10.1101/gad.1158803 http://dx.doi.org/10.1101/gad.1158803 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1090599 http://dx.doi.org/10.1126/science.1090599 DOI 10.1126/science.1175371 http://dx.doi.org/10.1126/science.1175371 DOI 10.1128/MCB.01519-08 http://dx.doi.org/10.1128/MCB.01519-08 DOI 10.1128/MCB.24.15.6608-6619.2004 http://dx.doi.org/10.1128/MCB.24.15.6608-6619.2004 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DOI 10.1261/rna.5167604 http://dx.doi.org/10.1261/rna.5167604 DOI 10.1261/rna.7233305 http://dx.doi.org/10.1261/rna.7233305 EMBL AB033117 http://www.ebi.ac.uk/ena/data/view/AB033117 EMBL AF271159 http://www.ebi.ac.uk/ena/data/view/AF271159 EMBL AF298880 http://www.ebi.ac.uk/ena/data/view/AF298880 EMBL AK001195 http://www.ebi.ac.uk/ena/data/view/AK001195 EMBL AK022718 http://www.ebi.ac.uk/ena/data/view/AK022718 EMBL AL137467 http://www.ebi.ac.uk/ena/data/view/AL137467 EMBL AL355802 http://www.ebi.ac.uk/ena/data/view/AL355802 EMBL BC000129 http://www.ebi.ac.uk/ena/data/view/BC000129 EMBL BC008347 http://www.ebi.ac.uk/ena/data/view/BC008347 EMBL BC009969 http://www.ebi.ac.uk/ena/data/view/BC009969 EMBL BC062635 http://www.ebi.ac.uk/ena/data/view/BC062635 Ensembl ENST00000265351 http://www.ensembl.org/id/ENST00000265351 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0042565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042565 GO_function GO:0000049 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000049 GO_function GO:0003723 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003723 GO_function GO:0003729 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003729 GO_function GO:0005049 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005049 GO_function GO:0008536 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008536 GO_function GO:0044822 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044822 GO_function GO:0070883 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070883 GO_function GO:0090631 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090631 GO_process GO:0006611 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006611 GO_process GO:0031047 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031047 GO_process GO:0035281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035281 GO_process GO:0046825 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046825 GO_process GO:1900370 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1900370 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0003723 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003723 GOslim_function GO:0003729 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003729 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_function GO:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GOslim_process GO:0006913 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006913 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 Gene3D 1.25.10.10 http://www.cathdb.info/version/latest/superfamily/1.25.10.10 GeneCards XPO5 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=XPO5 GeneID 57510 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=57510 GeneTree ENSGT00390000013979 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000013979 H-InvDB HIX0005908 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0005908 HGNC HGNC:17675 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:17675 HOVERGEN HBG056281 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG056281&db=HOVERGEN HPA CAB012357 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB012357 HPA HPA018402 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA018402 HPA HPA023959 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA023959 HPA HPA029909 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA029909 HPA HPA029910 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA029910 InParanoid Q9HAV4 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9HAV4 IntAct Q9HAV4 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9HAV4* InterPro IPR001494 http://www.ebi.ac.uk/interpro/entry/IPR001494 InterPro IPR011989 http://www.ebi.ac.uk/interpro/entry/IPR011989 InterPro IPR013598 http://www.ebi.ac.uk/interpro/entry/IPR013598 InterPro IPR016024 http://www.ebi.ac.uk/interpro/entry/IPR016024 Jabion 57510 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=57510 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko03016 http://www.genome.jp/dbget-bin/www_bget?ko03016 KEGG_Gene hsa:57510 http://www.genome.jp/dbget-bin/www_bget?hsa:57510 KEGG_Orthology KO:K14289 http://www.genome.jp/dbget-bin/www_bget?KO:K14289 KEGG_Pathway ko03013 http://www.genome.jp/kegg-bin/show_pathway?ko03013 MIM 607845 http://www.ncbi.nlm.nih.gov/omim/607845 MINT MINT-264827 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-264827 OMA VLKPPNE http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=VLKPPNE OrthoDB EOG091G0154 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0154 PDB 3A6P http://www.ebi.ac.uk/pdbe-srv/view/entry/3A6P PDBsum 3A6P http://www.ebi.ac.uk/pdbsum/3A6P PSORT swissprot:XPO5_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:XPO5_HUMAN PSORT-B swissprot:XPO5_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:XPO5_HUMAN PSORT2 swissprot:XPO5_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:XPO5_HUMAN Pfam PF08389 http://pfam.xfam.org/family/PF08389 PharmGKB PA134979214 http://www.pharmgkb.org/do/serve?objId=PA134979214&objCls=Gene Phobius swissprot:XPO5_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:XPO5_HUMAN PhylomeDB Q9HAV4 http://phylomedb.org/?seqid=Q9HAV4 ProteinModelPortal Q9HAV4 http://www.proteinmodelportal.org/query/uniprot/Q9HAV4 PubMed 10574462 http://www.ncbi.nlm.nih.gov/pubmed/10574462 PubMed 11777942 http://www.ncbi.nlm.nih.gov/pubmed/11777942 PubMed 12168954 http://www.ncbi.nlm.nih.gov/pubmed/12168954 PubMed 12426392 http://www.ncbi.nlm.nih.gov/pubmed/12426392 PubMed 12426393 http://www.ncbi.nlm.nih.gov/pubmed/12426393 PubMed 12509441 http://www.ncbi.nlm.nih.gov/pubmed/12509441 PubMed 14570900 http://www.ncbi.nlm.nih.gov/pubmed/14570900 PubMed 14574404 http://www.ncbi.nlm.nih.gov/pubmed/14574404 PubMed 14631048 http://www.ncbi.nlm.nih.gov/pubmed/14631048 PubMed 14681208 http://www.ncbi.nlm.nih.gov/pubmed/14681208 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 14730017 http://www.ncbi.nlm.nih.gov/pubmed/14730017 PubMed 15254228 http://www.ncbi.nlm.nih.gov/pubmed/15254228 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15613540 http://www.ncbi.nlm.nih.gov/pubmed/15613540 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 PubMed 18691976 http://www.ncbi.nlm.nih.gov/pubmed/18691976 PubMed 19124606 http://www.ncbi.nlm.nih.gov/pubmed/19124606 PubMed 19413330 http://www.ncbi.nlm.nih.gov/pubmed/19413330 PubMed 19608861 http://www.ncbi.nlm.nih.gov/pubmed/19608861 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 22223895 http://www.ncbi.nlm.nih.gov/pubmed/22223895 PubMed 26878725 http://www.ncbi.nlm.nih.gov/pubmed/26878725 Reactome R-HSA-203927 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-203927 RefSeq NP_065801 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_065801 SMART SM00913 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00913 SMR Q9HAV4 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9HAV4 STRING 9606.ENSP00000265351 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000265351&targetmode=cogs SUPFAM SSF48371 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48371 TCDB 1.I.1.1 http://www.tcdb.org/search/result.php?tc=1.I.1.1 UCSC uc003ovp http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003ovp&org=rat UniGene Hs.203206 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.203206 UniProtKB XPO5_HUMAN http://www.uniprot.org/uniprot/XPO5_HUMAN UniProtKB-AC Q9HAV4 http://www.uniprot.org/uniprot/Q9HAV4 charge swissprot:XPO5_HUMAN http://rest.g-language.org/emboss/charge/swissprot:XPO5_HUMAN eggNOG COG5101 http://eggnogapi.embl.de/nog_data/html/tree/COG5101 eggNOG KOG2020 http://eggnogapi.embl.de/nog_data/html/tree/KOG2020 epestfind swissprot:XPO5_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:XPO5_HUMAN garnier swissprot:XPO5_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:XPO5_HUMAN helixturnhelix swissprot:XPO5_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:XPO5_HUMAN hmoment swissprot:XPO5_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:XPO5_HUMAN iep swissprot:XPO5_HUMAN http://rest.g-language.org/emboss/iep/swissprot:XPO5_HUMAN inforesidue swissprot:XPO5_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:XPO5_HUMAN neXtProt NX_Q9HAV4 http://www.nextprot.org/db/entry/NX_Q9HAV4 octanol swissprot:XPO5_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:XPO5_HUMAN pepcoil swissprot:XPO5_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:XPO5_HUMAN pepdigest swissprot:XPO5_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:XPO5_HUMAN pepinfo swissprot:XPO5_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:XPO5_HUMAN pepnet swissprot:XPO5_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:XPO5_HUMAN pepstats swissprot:XPO5_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:XPO5_HUMAN pepwheel swissprot:XPO5_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:XPO5_HUMAN pepwindow swissprot:XPO5_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:XPO5_HUMAN sigcleave swissprot:XPO5_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:XPO5_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q5BKX6-1; Sequence=Displayed; Name=2; IsoId=Q5BKX6-2; Sequence=VSP_033540, VSP_033541; Name=3; IsoId=Q5BKX6-3; Sequence=VSP_033540, VSP_033541, VSP_033542; Note=No experimental confirmation available. Ref.1 (BAC87328) sequence is in conflict in position: 787 E->K. {ECO:0000305}; # CCDS CCDS34948 -. [Q5BKX6-3] # CCDS CCDS69550 -. [Q5BKX6-2] # CDD cd06174 MFS; 2 # Ensembl ENST00000024061 ENSP00000024061; ENSG00000022567. [Q5BKX6-3] # Ensembl ENST00000519067 ENSP00000429059; ENSG00000022567. [Q5BKX6-2] # ExpressionAtlas Q5BKX6 baseline and differential # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function S45A4_HUMAN GO 0008506 sucrose proton symporter activity; ISS ParkinsonsUK-UCL. # GO_process GO:0015770 sucrose transport; ISS:ParkinsonsUK-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # Genevisible Q5BKX6 HS # HGNC HGNC:29196 SLC45A4 # InterPro IPR020846 MFS_dom # KEGG_Brite ko02001 Solute carrier family # Organism S45A4_HUMAN Homo sapiens (Human) # Proteomes UP000005640 Chromosome 8 # RecName S45A4_HUMAN Solute carrier family 45 member 4 # RefSeq NP_001073900 NM_001080431.2. [Q5BKX6-3] # RefSeq NP_001273575 NM_001286646.1 # RefSeq NP_001273577 NM_001286648.1. [Q5BKX6-2] # SEQUENCE CAUTION Sequence=AAH90891.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the glycoside-pentoside-hexuronide (GPH) cation symporter transporter (TC 2.A.2) family. {ECO 0000305}. # SUBCELLULAR LOCATION S45A4_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # SUPFAM SSF103473 SSF103473; 2 # TCDB 2.A.2.4:the glycoside-pentoside-hexuronide (gph) cation symporter family # UCSC uc003ywc human. [Q5BKX6-1] # eggNOG ENOG410XPTR LUCA # eggNOG KOG0637 Eukaryota BLAST swissprot:S45A4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S45A4_HUMAN COXPRESdb 57210 http://coxpresdb.jp/data/gene/57210.shtml CleanEx HS_SLC45A4 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC45A4 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature04406 http://dx.doi.org/10.1038/nature04406 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1093/dnares/6.5.329 http://dx.doi.org/10.1093/dnares/6.5.329 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AB032952 http://www.ebi.ac.uk/ena/data/view/AB032952 EMBL AC011676 http://www.ebi.ac.uk/ena/data/view/AC011676 EMBL AK128212 http://www.ebi.ac.uk/ena/data/view/AK128212 EMBL BC090891 http://www.ebi.ac.uk/ena/data/view/BC090891 Ensembl ENST00000024061 http://www.ensembl.org/id/ENST00000024061 Ensembl ENST00000519067 http://www.ensembl.org/id/ENST00000519067 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0008506 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008506 GO_process GO:0015770 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015770 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GeneCards SLC45A4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC45A4 GeneID 57210 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=57210 GeneTree ENSGT00390000018882 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000018882 HGNC HGNC:29196 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:29196 HOGENOM HOG000154239 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000154239&db=HOGENOM6 HOVERGEN HBG108452 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG108452&db=HOVERGEN HPA HPA023154 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA023154 InParanoid Q5BKX6 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q5BKX6 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 57210 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=57210 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:57210 http://www.genome.jp/dbget-bin/www_bget?hsa:57210 KEGG_Orthology KO:K15378 http://www.genome.jp/dbget-bin/www_bget?KO:K15378 PSORT swissprot:S45A4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S45A4_HUMAN PSORT-B swissprot:S45A4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S45A4_HUMAN PSORT2 swissprot:S45A4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S45A4_HUMAN Phobius swissprot:S45A4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S45A4_HUMAN PhylomeDB Q5BKX6 http://phylomedb.org/?seqid=Q5BKX6 ProteinModelPortal Q5BKX6 http://www.proteinmodelportal.org/query/uniprot/Q5BKX6 PubMed 10574461 http://www.ncbi.nlm.nih.gov/pubmed/10574461 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16421571 http://www.ncbi.nlm.nih.gov/pubmed/16421571 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 RefSeq NP_001073900 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001073900 RefSeq NP_001273575 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001273575 RefSeq NP_001273577 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001273577 STRING 9606.ENSP00000024061 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000024061&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.2.4 http://www.tcdb.org/search/result.php?tc=2.A.2.4 UCSC uc003ywc http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003ywc&org=rat UniGene Hs.372492 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.372492 UniProtKB S45A4_HUMAN http://www.uniprot.org/uniprot/S45A4_HUMAN UniProtKB-AC Q5BKX6 http://www.uniprot.org/uniprot/Q5BKX6 charge swissprot:S45A4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S45A4_HUMAN eggNOG ENOG410XPTR http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XPTR eggNOG KOG0637 http://eggnogapi.embl.de/nog_data/html/tree/KOG0637 epestfind swissprot:S45A4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S45A4_HUMAN garnier swissprot:S45A4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S45A4_HUMAN helixturnhelix swissprot:S45A4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S45A4_HUMAN hmoment swissprot:S45A4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S45A4_HUMAN iep swissprot:S45A4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S45A4_HUMAN inforesidue swissprot:S45A4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S45A4_HUMAN neXtProt NX_Q5BKX6 http://www.nextprot.org/db/entry/NX_Q5BKX6 octanol swissprot:S45A4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S45A4_HUMAN pepcoil swissprot:S45A4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S45A4_HUMAN pepdigest swissprot:S45A4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S45A4_HUMAN pepinfo swissprot:S45A4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S45A4_HUMAN pepnet swissprot:S45A4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S45A4_HUMAN pepstats swissprot:S45A4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S45A4_HUMAN pepwheel swissprot:S45A4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S45A4_HUMAN pepwindow swissprot:S45A4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S45A4_HUMAN sigcleave swissprot:S45A4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S45A4_HUMAN ## Database ID URL or Descriptions # AltName UCRI_HUMAN Complex III subunit 5 # AltName UCRI_HUMAN Complex III subunit IX # AltName UCRI_HUMAN Cytochrome b-c1 complex subunit 5 # AltName UCRI_HUMAN Rieske iron-sulfur protein # AltName UCRI_HUMAN Ubiquinol-cytochrome c reductase 8 kDa protein # AltName UCRI_HUMAN Ubiquinol-cytochrome c reductase iron-sulfur subunit # AltName UCRI_HUMAN Ubiquinol-cytochrome c reductase iron-sulfur subunit # BioGrid 113232 77 # CATALYTIC ACTIVITY UCRI_HUMAN Quinol + 2 ferricytochrome c = quinone + 2 ferrocytochrome c + 2 H(+). # COFACTOR UCRI_HUMAN Name=[2Fe-2S] cluster; Xref=ChEBI CHEBI 49601; Evidence={ECO 0000255|PROSITE-ProRule PRU00628}; Note=Binds 1 [2Fe-2S] cluster per subunit. {ECO 0000255|PROSITE- ProRule PRU00628}; # ChiTaRS UQCRFS1 human # Ensembl ENST00000304863 ENSP00000306397; ENSG00000169021 # FUNCTION UCRI_HUMAN Component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex), which is a respiratory chain that generates an electrochemical potential coupled to ATP synthesis. # FUNCTION UCRI_HUMAN The transit peptide of the Rieske protein seems to form part of the bc1 complex and is considered to be the subunit 11/IX of that complex. {ECO 0000250}. # GO_component GO:0005739 mitochondrion; IDA:UniProtKB. # GO_component GO:0005743 mitochondrial inner membrane; TAS:Reactome. # GO_component GO:0005750 mitochondrial respiratory chain complex III; IEA:Ensembl. # GO_component GO:0043209 myelin sheath; IEA:Ensembl. # GO_function GO:0008121 ubiquinol-cytochrome-c reductase activity; IEA:UniProtKB-EC. # GO_function GO:0046872 metal ion binding; IEA:UniProtKB-KW. # GO_function GO:0051537 2 iron, 2 sulfur cluster binding; IEA:UniProtKB-KW. # GO_process GO:0006122 mitochondrial electron transport, ubiquinol to cytochrome c; TAS:Reactome. # GO_process GO:0009725 response to hormone; IEA:Ensembl. # GO_process GO:0042493 response to drug; IEA:Ensembl. # GO_process GO:0046677 response to antibiotic; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005739 mitochondrion # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0016491 oxidoreductase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006091 generation of precursor metabolites and energy # GOslim_process GO:0008150 biological_process # Gene3D 1.20.5.270 -; 1. # Gene3D 2.102.10.10 -; 1. # Genevisible P47985 HS # HGNC HGNC:12587 UQCRFS1 # IntAct P47985 16 # InterPro IPR004192 Ubiquinol_cyt_Rdtase_TM # InterPro IPR005805 Rieske_Fe-S_prot_C # InterPro IPR006317 Ubiquinol_cyt_c_Rdtase_Fe-S-su # InterPro IPR011070 Globular_prot_asu/bsu # InterPro IPR014349 Rieske_Fe-S_prot # InterPro IPR015248 Ubiqinol_cyt_c_Rdtase_N # InterPro IPR017941 Rieske_2Fe-2S # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Brite ko01000 Enzymes # KEGG_Pathway ko00190 Oxidative phosphorylation # KEGG_Pathway ko00910 Nitrogen metabolism # KEGG_Pathway ko02020 Two-component system # KEGG_Pathway ko04260 Cardiac muscle contraction # KEGG_Pathway ko05010 Alzheimer's disease # KEGG_Pathway ko05012 Parkinson's disease # KEGG_Pathway ko05016 Huntington's disease # MIM 191327 gene # MISCELLANEOUS UCRI_HUMAN The Rieske protein is a high potential 2Fe-2S protein. # Organism UCRI_HUMAN Homo sapiens (Human) # PANTHER PTHR10134 PTHR10134 # PRINTS PR00162 RIESKE # PROSITE PS51296 RIESKE # Pfam PF00355 Rieske # Pfam PF02921 UCR_TM # Pfam PF09165 Ubiq-Cytc-red_N # Proteomes UP000005640 Chromosome 19 # Reactome R-HSA-611105 Respiratory electron transport # RecName UCRI_HUMAN Cytochrome b-c1 complex subunit 11 # RecName UCRI_HUMAN Cytochrome b-c1 complex subunit Rieske, mitochondrial # RefSeq NP_005994 NM_006003.2 # SIMILARITY Contains 1 Rieske domain. {ECO:0000255|PROSITE- ProRule PRU00628}. # SUBCELLULAR LOCATION UCRI_HUMAN Mitochondrion inner membrane; Single-pass membrane protein. # SUBUNIT The bc1 complex contains 11 subunits 3 respiratory subunits (cytochrome b, cytochrome c1 and Rieske/UQCRFS1), 2 core proteins (UQCRC1/QCR1 and UQCRC2/QCR2) and 6 low-molecular weight proteins (UQCRH/QCR6, UQCRB/QCR7, UQCRQ/QCR8, UQCR10/QCR9, UQCR11/QCR10 and a cleavage product of Rieske/UQCRFS1). # SUPFAM SSF50022 SSF50022 # SUPFAM SSF56568 SSF56568 # TIGRFAMs TIGR01416 Rieske_proteo # UCSC uc002nsd human # eggNOG COG0723 LUCA # eggNOG KOG1671 Eukaryota BLAST swissprot:UCRI_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:UCRI_HUMAN BioCyc ZFISH:HS09867-MONOMER http://biocyc.org/getid?id=ZFISH:HS09867-MONOMER COG COG0723 http://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=COG0723 COXPRESdb 7386 http://coxpresdb.jp/data/gene/7386.shtml CleanEx HS_UQCRFS1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_UQCRFS1 DOI 10.1002/elps.1150180343 http://dx.doi.org/10.1002/elps.1150180343 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1016/0378-1119(94)00683-J http://dx.doi.org/10.1016/0378-1119(94)00683-J DOI 10.1038/nature02399 http://dx.doi.org/10.1038/nature02399 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EC_number EC:1.10.2.2 http://www.genome.jp/dbget-bin/www_bget?EC:1.10.2.2 EMBL AC007786 http://www.ebi.ac.uk/ena/data/view/AC007786 EMBL AK291134 http://www.ebi.ac.uk/ena/data/view/AK291134 EMBL BC000649 http://www.ebi.ac.uk/ena/data/view/BC000649 EMBL BC010035 http://www.ebi.ac.uk/ena/data/view/BC010035 EMBL BC067832 http://www.ebi.ac.uk/ena/data/view/BC067832 EMBL L32917 http://www.ebi.ac.uk/ena/data/view/L32917 EMBL L32977 http://www.ebi.ac.uk/ena/data/view/L32977 ENZYME 1.10.2.2 http://enzyme.expasy.org/EC/1.10.2.2 Ensembl ENST00000304863 http://www.ensembl.org/id/ENST00000304863 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0005750 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005750 GO_component GO:0043209 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043209 GO_function GO:0008121 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008121 GO_function GO:0046872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046872 GO_function GO:0051537 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051537 GO_process GO:0006122 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006122 GO_process GO:0009725 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009725 GO_process GO:0042493 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042493 GO_process GO:0046677 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046677 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0016491 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016491 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006091 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 Gene3D 1.20.5.270 http://www.cathdb.info/version/latest/superfamily/1.20.5.270 Gene3D 2.102.10.10 http://www.cathdb.info/version/latest/superfamily/2.102.10.10 GeneCards UQCRFS1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=UQCRFS1 GeneID 7386 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=7386 GeneTree ENSGT00390000001014 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000001014 H-InvDB HIX0041192 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0041192 HGNC HGNC:12587 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:12587 HOVERGEN HBG001040 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG001040&db=HOVERGEN HPA HPA041863 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA041863 HPA HPA050339 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA050339 InParanoid P47985 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P47985 IntAct P47985 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P47985* IntEnz 1.10.2.2 http://www.ebi.ac.uk/intenz/query?cmd=Search&q=1.10.2.2 InterPro IPR004192 http://www.ebi.ac.uk/interpro/entry/IPR004192 InterPro IPR005805 http://www.ebi.ac.uk/interpro/entry/IPR005805 InterPro IPR006317 http://www.ebi.ac.uk/interpro/entry/IPR006317 InterPro IPR011070 http://www.ebi.ac.uk/interpro/entry/IPR011070 InterPro IPR014349 http://www.ebi.ac.uk/interpro/entry/IPR014349 InterPro IPR015248 http://www.ebi.ac.uk/interpro/entry/IPR015248 InterPro IPR017941 http://www.ebi.ac.uk/interpro/entry/IPR017941 Jabion 7386 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=7386 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00002 http://www.genome.jp/dbget-bin/www_bget?ko00002 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Gene hsa:7386 http://www.genome.jp/dbget-bin/www_bget?hsa:7386 KEGG_Orthology KO:K00411 http://www.genome.jp/dbget-bin/www_bget?KO:K00411 KEGG_Pathway ko00190 http://www.genome.jp/kegg-bin/show_pathway?ko00190 KEGG_Pathway ko00910 http://www.genome.jp/kegg-bin/show_pathway?ko00910 KEGG_Pathway ko02020 http://www.genome.jp/kegg-bin/show_pathway?ko02020 KEGG_Pathway ko04260 http://www.genome.jp/kegg-bin/show_pathway?ko04260 KEGG_Pathway ko05010 http://www.genome.jp/kegg-bin/show_pathway?ko05010 KEGG_Pathway ko05012 http://www.genome.jp/kegg-bin/show_pathway?ko05012 KEGG_Pathway ko05016 http://www.genome.jp/kegg-bin/show_pathway?ko05016 MIM 191327 http://www.ncbi.nlm.nih.gov/omim/191327 MINT MINT-2803370 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-2803370 OMA PFYEFPD http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=PFYEFPD OrthoDB EOG091G0MOP http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0MOP PANTHER PTHR10134 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10134 PRINTS PR00162 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00162 PROSITE PS51296 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51296 PSORT swissprot:UCRI_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:UCRI_HUMAN PSORT-B swissprot:UCRI_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:UCRI_HUMAN PSORT2 swissprot:UCRI_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:UCRI_HUMAN Pfam PF00355 http://pfam.xfam.org/family/PF00355 Pfam PF02921 http://pfam.xfam.org/family/PF02921 Pfam PF09165 http://pfam.xfam.org/family/PF09165 PharmGKB PA37218 http://www.pharmgkb.org/do/serve?objId=PA37218&objCls=Gene Phobius swissprot:UCRI_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:UCRI_HUMAN PhylomeDB P47985 http://phylomedb.org/?seqid=P47985 ProteinModelPortal P47985 http://www.proteinmodelportal.org/query/uniprot/P47985 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15057824 http://www.ncbi.nlm.nih.gov/pubmed/15057824 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 2158323 http://www.ncbi.nlm.nih.gov/pubmed/2158323 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 7721092 http://www.ncbi.nlm.nih.gov/pubmed/7721092 PubMed 9150947 http://www.ncbi.nlm.nih.gov/pubmed/9150947 Reactome R-HSA-611105 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-611105 RefSeq NP_005994 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_005994 SMR P47985 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P47985 STRING 9606.ENSP00000306397 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000306397&targetmode=cogs STRING COG0723 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=COG0723&targetmode=cogs SUPFAM SSF50022 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF50022 SUPFAM SSF56568 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF56568 SWISS-2DPAGE P47985 http://world-2dpage.expasy.org/swiss-2dpage/protein/ac=P47985 TIGRFAMs TIGR01416 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01416 UCSC uc002nsd http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002nsd&org=rat UniGene Hs.743307 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.743307 UniProtKB UCRI_HUMAN http://www.uniprot.org/uniprot/UCRI_HUMAN UniProtKB-AC P47985 http://www.uniprot.org/uniprot/P47985 charge swissprot:UCRI_HUMAN http://rest.g-language.org/emboss/charge/swissprot:UCRI_HUMAN eggNOG COG0723 http://eggnogapi.embl.de/nog_data/html/tree/COG0723 eggNOG KOG1671 http://eggnogapi.embl.de/nog_data/html/tree/KOG1671 epestfind swissprot:UCRI_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:UCRI_HUMAN garnier swissprot:UCRI_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:UCRI_HUMAN helixturnhelix swissprot:UCRI_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:UCRI_HUMAN hmoment swissprot:UCRI_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:UCRI_HUMAN iep swissprot:UCRI_HUMAN http://rest.g-language.org/emboss/iep/swissprot:UCRI_HUMAN inforesidue swissprot:UCRI_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:UCRI_HUMAN neXtProt NX_P47985 http://www.nextprot.org/db/entry/NX_P47985 octanol swissprot:UCRI_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:UCRI_HUMAN pepcoil swissprot:UCRI_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:UCRI_HUMAN pepdigest swissprot:UCRI_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:UCRI_HUMAN pepinfo swissprot:UCRI_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:UCRI_HUMAN pepnet swissprot:UCRI_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:UCRI_HUMAN pepstats swissprot:UCRI_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:UCRI_HUMAN pepwheel swissprot:UCRI_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:UCRI_HUMAN pepwindow swissprot:UCRI_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:UCRI_HUMAN sigcleave swissprot:UCRI_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:UCRI_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S22A7_HUMAN Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q9Y694-1; Sequence=Displayed; Name=2; IsoId=Q9Y694-2; Sequence=VSP_030992; Name=3; IsoId=Q9Y694-3; Sequence=VSP_030992, VSP_030994; Name=4; IsoId=Q9Y694-4; Sequence=VSP_030991, VSP_030993; # AltName S22A7_HUMAN Novel liver transporter # AltName S22A7_HUMAN Organic anion transporter 2 # BIOPHYSICOCHEMICAL PROPERTIES S22A7_HUMAN Kinetic parameters KM=713 nM for prostaglandin E2 {ECO 0000269|PubMed 11855680, ECO 0000269|PubMed 11907186}; KM=440 uM for tetracycline {ECO 0000269|PubMed 11855680, ECO 0000269|PubMed 11907186}; # CCDS CCDS4892 -. [Q9Y694-2] # CCDS CCDS4893 -. [Q9Y694-1] # CDD cd06174 MFS # DrugBank DB00175 Pravastatin # DrugBank DB00199 Erythromycin # DrugBank DB00277 Theophylline # DrugBank DB00313 Valproic Acid # DrugBank DB00328 Indomethacin # DrugBank DB00345 Aminohippurate # DrugBank DB00437 Allopurinol # DrugBank DB00456 Cefalotin # DrugBank DB00493 Cefotaxime # DrugBank DB00495 Zidovudine # DrugBank DB00501 Cimetidine # DrugBank DB00544 Fluorouracil # DrugBank DB00563 Methotrexate # DrugBank DB00584 Enalapril # DrugBank DB00595 Oxytetracycline # DrugBank DB00624 Testosterone # DrugBank DB00759 Tetracycline # DrugBank DB00887 Bumetanide # DrugBank DB00917 Dinoprostone # DrugBank DB00936 Salicylic acid # DrugBank DB00943 Zalcitabine # DrugBank DB00945 Acetylsalicylic acid # DrugBank DB01004 Ganciclovir # DrugBank DB01009 Ketoprofen # DrugBank DB01016 Glyburide # DrugBank DB01017 Minocycline # DrugBank DB01032 Probenecid # DrugBank DB01045 Rifampicin # DrugBank DB01160 Dinoprost Tromethamine # DrugBank DB01211 Clarithromycin # DrugBank DB01248 Docetaxel # DrugBank DB01303 Oxtriphylline # DrugBank DB01326 Cefamandole # DrugBank DB01329 Cefoperazone # DrugBank DB02659 Cholic Acid # Ensembl ENST00000372574 ENSP00000361655; ENSG00000137204. [Q9Y694-3] # Ensembl ENST00000372585 ENSP00000361666; ENSG00000137204. [Q9Y694-1] # Ensembl ENST00000372589 ENSP00000361670; ENSG00000137204. [Q9Y694-2] # ExpressionAtlas Q9Y694 baseline and differential # FUNCTION S22A7_HUMAN Mediates sodium-independent multispecific organic anion transport. Transport of prostaglandin E2, prostaglandin F2, tetracycline, bumetanide, estrone sulfate, glutarate, dehydroepiandrosterone sulfate, allopurinol, 5-fluorouracil, paclitaxel, L-ascorbic acid, salicylate, ethotrexate, and alpha- ketoglutarate. {ECO 0000269|PubMed 11327718, ECO 0000269|PubMed 11855680, ECO 0000269|PubMed 11907186, ECO 0000269|PubMed 12023506, ECO 0000269|PubMed 15901346}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0016020 membrane; TAS:ProtInc. # GO_component GO:0016323 basolateral plasma membrane; IEA:UniProtKB-SubCell. # GO_function GO:0015347 sodium-independent organic anion transmembrane transporter activity; TAS:Reactome. # GO_function S22A7_HUMAN GO 0015301 anion anion antiporter activity; TAS Reactome. # GO_process GO:0015711 organic anion transport; TAS:ProtInc. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # Genevisible Q9Y694 HS # HGNC HGNC:10971 SLC22A7 # IntAct Q9Y694 2 # InterPro IPR004749 Orgcat_transp/SVOP # InterPro IPR011701 MFS # InterPro IPR020846 MFS_dom # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02000 Transporters # KEGG_Brite ko02001 Solute carrier family # KEGG_Pathway ko04976 Bile secretion # MIM 604995 gene # Organism S22A7_HUMAN Homo sapiens (Human) # PROSITE PS50850 MFS # Pfam PF07690 MFS_1 # Proteomes UP000005640 Chromosome 6 # Reactome R-HSA-561048 Organic anion transport # RecName S22A7_HUMAN Solute carrier family 22 member 7 # RefSeq NP_006663 NM_006672.3. [Q9Y694-2] # RefSeq NP_696961 NM_153320.2. [Q9Y694-1] # SIMILARITY Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family. {ECO 0000305}. # SUBCELLULAR LOCATION S22A7_HUMAN Basolateral cell membrane {ECO 0000269|PubMed 11907186, ECO 0000269|PubMed 12023506}; Multi- pass membrane protein {ECO 0000269|PubMed 11907186, ECO 0000269|PubMed 12023506}. Note=Apical side of the renal tubule. # SUPFAM SSF103473 SSF103473 # TCDB 2.A.1.19.25 the major facilitator superfamily (mfs) # TIGRFAMs TIGR00898 2A0119 # TISSUE SPECIFICITY S22A7_HUMAN Expressed in liver and kidney. {ECO 0000269|PubMed 11327718, ECO 0000269|PubMed 11907186, ECO 0000269|PubMed 15901346}. # UCSC uc003ous human. [Q9Y694-1] # WEB RESOURCE S22A7_HUMAN Name=NIEHS-SNPs; URL="http //egp.gs.washington.edu/data/slc22a7/"; # eggNOG COG0477 LUCA # eggNOG KOG0255 Eukaryota BLAST swissprot:S22A7_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S22A7_HUMAN BioCyc ZFISH:ENSG00000137204-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000137204-MONOMER COXPRESdb 10864 http://coxpresdb.jp/data/gene/10864.shtml CleanEx HS_SLC22A7 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC22A7 DOI 10.1006/bbrc.2001.4774 http://dx.doi.org/10.1006/bbrc.2001.4774 DOI 10.1021/pr8008012 http://dx.doi.org/10.1021/pr8008012 DOI 10.1038/nature02055 http://dx.doi.org/10.1038/nature02055 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1124/jpet.301.1.293 http://dx.doi.org/10.1124/jpet.301.1.293 DOI 10.1124/jpet.301.3.797 http://dx.doi.org/10.1124/jpet.301.3.797 DOI 10.1211/0022357055966 http://dx.doi.org/10.1211/0022357055966 DOI 10.1254/jjp.88.69 http://dx.doi.org/10.1254/jjp.88.69 DrugBank DB00175 http://www.drugbank.ca/drugs/DB00175 DrugBank DB00199 http://www.drugbank.ca/drugs/DB00199 DrugBank DB00277 http://www.drugbank.ca/drugs/DB00277 DrugBank DB00313 http://www.drugbank.ca/drugs/DB00313 DrugBank DB00328 http://www.drugbank.ca/drugs/DB00328 DrugBank DB00345 http://www.drugbank.ca/drugs/DB00345 DrugBank DB00437 http://www.drugbank.ca/drugs/DB00437 DrugBank DB00456 http://www.drugbank.ca/drugs/DB00456 DrugBank DB00493 http://www.drugbank.ca/drugs/DB00493 DrugBank DB00495 http://www.drugbank.ca/drugs/DB00495 DrugBank DB00501 http://www.drugbank.ca/drugs/DB00501 DrugBank DB00544 http://www.drugbank.ca/drugs/DB00544 DrugBank DB00563 http://www.drugbank.ca/drugs/DB00563 DrugBank DB00584 http://www.drugbank.ca/drugs/DB00584 DrugBank DB00595 http://www.drugbank.ca/drugs/DB00595 DrugBank DB00624 http://www.drugbank.ca/drugs/DB00624 DrugBank DB00759 http://www.drugbank.ca/drugs/DB00759 DrugBank DB00887 http://www.drugbank.ca/drugs/DB00887 DrugBank DB00917 http://www.drugbank.ca/drugs/DB00917 DrugBank DB00936 http://www.drugbank.ca/drugs/DB00936 DrugBank DB00943 http://www.drugbank.ca/drugs/DB00943 DrugBank DB00945 http://www.drugbank.ca/drugs/DB00945 DrugBank DB01004 http://www.drugbank.ca/drugs/DB01004 DrugBank DB01009 http://www.drugbank.ca/drugs/DB01009 DrugBank DB01016 http://www.drugbank.ca/drugs/DB01016 DrugBank DB01017 http://www.drugbank.ca/drugs/DB01017 DrugBank DB01032 http://www.drugbank.ca/drugs/DB01032 DrugBank DB01045 http://www.drugbank.ca/drugs/DB01045 DrugBank DB01160 http://www.drugbank.ca/drugs/DB01160 DrugBank DB01211 http://www.drugbank.ca/drugs/DB01211 DrugBank DB01248 http://www.drugbank.ca/drugs/DB01248 DrugBank DB01303 http://www.drugbank.ca/drugs/DB01303 DrugBank DB01326 http://www.drugbank.ca/drugs/DB01326 DrugBank DB01329 http://www.drugbank.ca/drugs/DB01329 DrugBank DB02659 http://www.drugbank.ca/drugs/DB02659 EMBL AF097518 http://www.ebi.ac.uk/ena/data/view/AF097518 EMBL AF210455 http://www.ebi.ac.uk/ena/data/view/AF210455 EMBL AK290796 http://www.ebi.ac.uk/ena/data/view/AK290796 EMBL AK290806 http://www.ebi.ac.uk/ena/data/view/AK290806 EMBL AL583834 http://www.ebi.ac.uk/ena/data/view/AL583834 EMBL AL583834 http://www.ebi.ac.uk/ena/data/view/AL583834 EMBL AL583834 http://www.ebi.ac.uk/ena/data/view/AL583834 EMBL AL583834 http://www.ebi.ac.uk/ena/data/view/AL583834 EMBL AY050498 http://www.ebi.ac.uk/ena/data/view/AY050498 EMBL BC033805 http://www.ebi.ac.uk/ena/data/view/BC033805 EMBL CH471081 http://www.ebi.ac.uk/ena/data/view/CH471081 EMBL CH471081 http://www.ebi.ac.uk/ena/data/view/CH471081 EMBL EU562669 http://www.ebi.ac.uk/ena/data/view/EU562669 Ensembl ENST00000372574 http://www.ensembl.org/id/ENST00000372574 Ensembl ENST00000372585 http://www.ensembl.org/id/ENST00000372585 Ensembl ENST00000372589 http://www.ensembl.org/id/ENST00000372589 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016323 GO_function GO:0015301 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015301 GO_function GO:0015347 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015347 GO_process GO:0015711 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015711 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GeneCards SLC22A7 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC22A7 GeneID 10864 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=10864 GeneTree ENSGT00760000118852 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118852 HGNC HGNC:10971 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10971 HOGENOM HOG000234569 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000234569&db=HOGENOM6 HOVERGEN HBG108433 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG108433&db=HOVERGEN HPA HPA030220 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA030220 InParanoid Q9Y694 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9Y694 IntAct Q9Y694 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9Y694* InterPro IPR004749 http://www.ebi.ac.uk/interpro/entry/IPR004749 InterPro IPR011701 http://www.ebi.ac.uk/interpro/entry/IPR011701 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 10864 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=10864 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:10864 http://www.genome.jp/dbget-bin/www_bget?hsa:10864 KEGG_Orthology KO:K08204 http://www.genome.jp/dbget-bin/www_bget?KO:K08204 KEGG_Pathway ko04976 http://www.genome.jp/kegg-bin/show_pathway?ko04976 MIM 604995 http://www.ncbi.nlm.nih.gov/omim/604995 OMA HCARLNG http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=HCARLNG OrthoDB EOG091G07GO http://cegg.unige.ch/orthodb/results?searchtext=EOG091G07GO PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PSORT swissprot:S22A7_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S22A7_HUMAN PSORT-B swissprot:S22A7_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S22A7_HUMAN PSORT2 swissprot:S22A7_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S22A7_HUMAN Pfam PF07690 http://pfam.xfam.org/family/PF07690 PharmGKB PA35848 http://www.pharmgkb.org/do/serve?objId=PA35848&objCls=Gene Phobius swissprot:S22A7_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S22A7_HUMAN PhylomeDB Q9Y694 http://phylomedb.org/?seqid=Q9Y694 ProteinModelPortal Q9Y694 http://www.proteinmodelportal.org/query/uniprot/Q9Y694 PubMed 11327718 http://www.ncbi.nlm.nih.gov/pubmed/11327718 PubMed 11855680 http://www.ncbi.nlm.nih.gov/pubmed/11855680 PubMed 11907186 http://www.ncbi.nlm.nih.gov/pubmed/11907186 PubMed 12023506 http://www.ncbi.nlm.nih.gov/pubmed/12023506 PubMed 14574404 http://www.ncbi.nlm.nih.gov/pubmed/14574404 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15901346 http://www.ncbi.nlm.nih.gov/pubmed/15901346 PubMed 19159218 http://www.ncbi.nlm.nih.gov/pubmed/19159218 Reactome R-HSA-561048 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-561048 RefSeq NP_006663 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_006663 RefSeq NP_696961 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_696961 STRING 9606.ENSP00000361666 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000361666&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.1.19.25 http://www.tcdb.org/search/result.php?tc=2.A.1.19.25 TIGRFAMs TIGR00898 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00898 UCSC uc003ous http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003ous&org=rat UniGene Hs.485438 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.485438 UniProtKB S22A7_HUMAN http://www.uniprot.org/uniprot/S22A7_HUMAN UniProtKB-AC Q9Y694 http://www.uniprot.org/uniprot/Q9Y694 charge swissprot:S22A7_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S22A7_HUMAN eggNOG COG0477 http://eggnogapi.embl.de/nog_data/html/tree/COG0477 eggNOG KOG0255 http://eggnogapi.embl.de/nog_data/html/tree/KOG0255 epestfind swissprot:S22A7_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S22A7_HUMAN garnier swissprot:S22A7_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S22A7_HUMAN helixturnhelix swissprot:S22A7_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S22A7_HUMAN hmoment swissprot:S22A7_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S22A7_HUMAN iep swissprot:S22A7_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S22A7_HUMAN inforesidue swissprot:S22A7_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S22A7_HUMAN neXtProt NX_Q9Y694 http://www.nextprot.org/db/entry/NX_Q9Y694 octanol swissprot:S22A7_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S22A7_HUMAN pepcoil swissprot:S22A7_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S22A7_HUMAN pepdigest swissprot:S22A7_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S22A7_HUMAN pepinfo swissprot:S22A7_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S22A7_HUMAN pepnet swissprot:S22A7_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S22A7_HUMAN pepstats swissprot:S22A7_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S22A7_HUMAN pepwheel swissprot:S22A7_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S22A7_HUMAN pepwindow swissprot:S22A7_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S22A7_HUMAN sigcleave swissprot:S22A7_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S22A7_HUMAN ## Database ID URL or Descriptions # AltName CXA3_HUMAN Connexin-46 # BioGrid 108967 3 # DISEASE CXA3_HUMAN Cataract 14, multiple types (CTRCT14) [MIM 601885] An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT14 includes zonular pulverulent cataract, among others. Zonular or lamellar cataracts are opacities, broad or narrow, usually consisting of powdery white dots affecting only certain layers or zones between the cortex and nucleus of an otherwise clear lens. The opacity may be so dense as to render the entire central region of the lens completely opaque, or so translucent that vision is hardly if at all impeded. Usually sharply separated from a clear cortex outside them, they may have projections from their outer edges known as riders or spokes. {ECO 0000269|PubMed 10205266, ECO 0000269|PubMed 10746562, ECO 0000269|PubMed 14627959, ECO 0000269|PubMed 15208569, ECO 0000269|PubMed 15286166, ECO 0000269|PubMed 15448617, ECO 0000269|PubMed 16234473, ECO 0000269|PubMed 16254549, ECO 0000269|PubMed 16885921, ECO 0000269|PubMed 16971895, ECO 0000269|PubMed 17615540, ECO 0000269|PubMed 17893674, ECO 0000269|PubMed 20431721, ECO 0000269|PubMed 21552498, ECO 0000269|PubMed 21647269, ECO 0000269|PubMed 21681855, ECO 0000269|PubMed 21897748, ECO 0000269|PubMed 22312188, ECO 0000269|PubMed 24772942, ECO 0000269|PubMed 25635993, ECO 0000269|PubMed 26683566}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000241125 ENSP00000241125; ENSG00000121743 # FUNCTION CXA3_HUMAN One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell. # GO_component GO:0005922 connexin complex; IEA:InterPro. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0005243 gap junction channel activity; IEA:InterPro. # GO_process GO:0006810 transport; NAS:ProtInc. # GO_process GO:0007267 cell-cell signaling; TAS:ProtInc. # GO_process GO:0007601 visual perception; TAS:ProtInc. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0043234 protein complex # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0050877 neurological system process # Genevisible Q9Y6H8 HS # HGNC HGNC:4277 GJA3 # InterPro IPR000500 Connexin # InterPro IPR002262 Connexin46 # InterPro IPR013092 Connexin_N # InterPro IPR017990 Connexin_CS # InterPro IPR019570 Connexin_CCC # KEGG_Disease H01202 [Eye disease] Cataract # MIM 121015 gene # MIM 601885 phenotype # Organism CXA3_HUMAN Homo sapiens (Human) # Orphanet 98984 Pulverulent cataract # Orphanet 98986 Coppock-like cataract # Orphanet 98991 Nuclear cataract # Orphanet 98993 Posterior polar cataract # PANTHER PTHR11984 PTHR11984; 2 # PANTHER PTHR11984:SF12 PTHR11984:SF12; 2 # PRINTS PR00206 CONNEXIN # PRINTS PR01133 CONNEXINA3 # PROSITE PS00407 CONNEXINS_1 # PROSITE PS00408 CONNEXINS_2 # Pfam PF00029 Connexin # Proteomes UP000005640 Chromosome 13 # Reactome R-HSA-190861 Gap junction assembly # RecName CXA3_HUMAN Gap junction alpha-3 protein # RefSeq NP_068773 NM_021954.3 # RefSeq XP_011533350 XM_011535048.2 # SIMILARITY Belongs to the connexin family. Alpha-type (group II) subfamily. {ECO 0000305}. # SMART SM00037 CNX # SMART SM01089 Connexin_CCC # SUBCELLULAR LOCATION CXA3_HUMAN Cell membrane; Multi-pass membrane protein. Cell junction, gap junction. # SUBUNIT CXA3_HUMAN A connexon is composed of a hexamer of connexins. This particular connexin is a component of lens fiber gap junctions, can form both junctional and non-junctional ("hemi-") channels. # TCDB 1.A.24.1 the gap junction-forming connexin (connexin) family # UCSC uc001umx human # eggNOG ENOG410IF3Z Eukaryota # eggNOG ENOG410ZC96 LUCA BLAST swissprot:CXA3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CXA3_HUMAN BioCyc ZFISH:ENSG00000121743-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000121743-MONOMER COXPRESdb 2700 http://coxpresdb.jp/data/gene/2700.shtml CleanEx HS_GJA3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_GJA3 DOI 10.1002/humu.21552 http://dx.doi.org/10.1002/humu.21552 DOI 10.1007/s004390051029 http://dx.doi.org/10.1007/s004390051029 DOI 10.1038/nature02379 http://dx.doi.org/10.1038/nature02379 DOI 10.1086/302383 http://dx.doi.org/10.1086/302383 DOI 10.1089/dna.2015.3125 http://dx.doi.org/10.1089/dna.2015.3125 DOI 10.1097/OPX.0000000000000518 http://dx.doi.org/10.1097/OPX.0000000000000518 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1136/bjo.2005.075184 http://dx.doi.org/10.1136/bjo.2005.075184 DOI 10.1136/jmg.2004.018333 http://dx.doi.org/10.1136/jmg.2004.018333 EMBL AF075290 http://www.ebi.ac.uk/ena/data/view/AF075290 EMBL AL138688 http://www.ebi.ac.uk/ena/data/view/AL138688 EMBL BC121137 http://www.ebi.ac.uk/ena/data/view/BC121137 Ensembl ENST00000241125 http://www.ensembl.org/id/ENST00000241125 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005922 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005922 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005243 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005243 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GO_process GO:0007601 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007601 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GeneCards GJA3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=GJA3 GeneID 2700 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=2700 GeneTree ENSGT00840000129674 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00840000129674 H-InvDB HIX0037357 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0037357 HGNC HGNC:4277 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:4277 HOGENOM HOG000231127 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231127&db=HOGENOM6 HOVERGEN HBG009576 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG009576&db=HOVERGEN InParanoid Q9Y6H8 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9Y6H8 InterPro IPR000500 http://www.ebi.ac.uk/interpro/entry/IPR000500 InterPro IPR002262 http://www.ebi.ac.uk/interpro/entry/IPR002262 InterPro IPR013092 http://www.ebi.ac.uk/interpro/entry/IPR013092 InterPro IPR017990 http://www.ebi.ac.uk/interpro/entry/IPR017990 InterPro IPR019570 http://www.ebi.ac.uk/interpro/entry/IPR019570 Jabion 2700 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=2700 KEGG_Disease H01202 http://www.genome.jp/dbget-bin/www_bget?H01202 KEGG_Gene hsa:2700 http://www.genome.jp/dbget-bin/www_bget?hsa:2700 KEGG_Orthology KO:K07612 http://www.genome.jp/dbget-bin/www_bget?KO:K07612 MIM 121015 http://www.ncbi.nlm.nih.gov/omim/121015 MIM 601885 http://www.ncbi.nlm.nih.gov/omim/601885 OMA IGFPPYY http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=IGFPPYY Orphanet 98984 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=98984 Orphanet 98986 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=98986 Orphanet 98991 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=98991 Orphanet 98993 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=98993 OrthoDB EOG091G0BF2 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0BF2 PANTHER PTHR11984 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11984 PANTHER PTHR11984:SF12 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11984:SF12 PRINTS PR00206 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00206 PRINTS PR01133 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01133 PROSITE PS00407 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00407 PROSITE PS00408 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00408 PSORT swissprot:CXA3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CXA3_HUMAN PSORT-B swissprot:CXA3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CXA3_HUMAN PSORT2 swissprot:CXA3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CXA3_HUMAN Pfam PF00029 http://pfam.xfam.org/family/PF00029 Phobius swissprot:CXA3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CXA3_HUMAN PhylomeDB Q9Y6H8 http://phylomedb.org/?seqid=Q9Y6H8 ProteinModelPortal Q9Y6H8 http://www.proteinmodelportal.org/query/uniprot/Q9Y6H8 PubMed 10205266 http://www.ncbi.nlm.nih.gov/pubmed/10205266 PubMed 10746562 http://www.ncbi.nlm.nih.gov/pubmed/10746562 PubMed 14627959 http://www.ncbi.nlm.nih.gov/pubmed/14627959 PubMed 15057823 http://www.ncbi.nlm.nih.gov/pubmed/15057823 PubMed 15208569 http://www.ncbi.nlm.nih.gov/pubmed/15208569 PubMed 15286166 http://www.ncbi.nlm.nih.gov/pubmed/15286166 PubMed 15448617 http://www.ncbi.nlm.nih.gov/pubmed/15448617 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16234473 http://www.ncbi.nlm.nih.gov/pubmed/16234473 PubMed 16254549 http://www.ncbi.nlm.nih.gov/pubmed/16254549 PubMed 16885921 http://www.ncbi.nlm.nih.gov/pubmed/16885921 PubMed 16971895 http://www.ncbi.nlm.nih.gov/pubmed/16971895 PubMed 17615540 http://www.ncbi.nlm.nih.gov/pubmed/17615540 PubMed 17893674 http://www.ncbi.nlm.nih.gov/pubmed/17893674 PubMed 20431721 http://www.ncbi.nlm.nih.gov/pubmed/20431721 PubMed 21552498 http://www.ncbi.nlm.nih.gov/pubmed/21552498 PubMed 21647269 http://www.ncbi.nlm.nih.gov/pubmed/21647269 PubMed 21681855 http://www.ncbi.nlm.nih.gov/pubmed/21681855 PubMed 21897748 http://www.ncbi.nlm.nih.gov/pubmed/21897748 PubMed 22312188 http://www.ncbi.nlm.nih.gov/pubmed/22312188 PubMed 24772942 http://www.ncbi.nlm.nih.gov/pubmed/24772942 PubMed 25635993 http://www.ncbi.nlm.nih.gov/pubmed/25635993 PubMed 26683566 http://www.ncbi.nlm.nih.gov/pubmed/26683566 Reactome R-HSA-190861 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-190861 RefSeq NP_068773 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_068773 RefSeq XP_011533350 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011533350 SMART SM00037 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00037 SMART SM01089 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM01089 STRING 9606.ENSP00000241125 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000241125&targetmode=cogs TCDB 1.A.24.1 http://www.tcdb.org/search/result.php?tc=1.A.24.1 UCSC uc001umx http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001umx&org=rat UniGene Hs.130313 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.130313 UniProtKB CXA3_HUMAN http://www.uniprot.org/uniprot/CXA3_HUMAN UniProtKB-AC Q9Y6H8 http://www.uniprot.org/uniprot/Q9Y6H8 charge swissprot:CXA3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CXA3_HUMAN eggNOG ENOG410IF3Z http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IF3Z eggNOG ENOG410ZC96 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410ZC96 epestfind swissprot:CXA3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CXA3_HUMAN garnier swissprot:CXA3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CXA3_HUMAN helixturnhelix swissprot:CXA3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CXA3_HUMAN hmoment swissprot:CXA3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CXA3_HUMAN iep swissprot:CXA3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CXA3_HUMAN inforesidue swissprot:CXA3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CXA3_HUMAN neXtProt NX_Q9Y6H8 http://www.nextprot.org/db/entry/NX_Q9Y6H8 octanol swissprot:CXA3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CXA3_HUMAN pepcoil swissprot:CXA3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CXA3_HUMAN pepdigest swissprot:CXA3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CXA3_HUMAN pepinfo swissprot:CXA3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CXA3_HUMAN pepnet swissprot:CXA3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CXA3_HUMAN pepstats swissprot:CXA3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CXA3_HUMAN pepwheel swissprot:CXA3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CXA3_HUMAN pepwindow swissprot:CXA3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CXA3_HUMAN sigcleave swissprot:CXA3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CXA3_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS ATNG_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=A; IsoId=P54710-1; Sequence=Displayed; Name=2; Synonyms=B; IsoId=P54710-2; Sequence=VSP_001580; # AltName ATNG_HUMAN FXYD domain-containing ion transport regulator 2 # AltName ATNG_HUMAN Sodium pump gamma chain # CCDS CCDS8385 -. [P54710-2] # CCDS CCDS8386 -. [P54710-1] # ChiTaRS FXYD2 human # DISEASE ATNG_HUMAN Hypomagnesemia 2 (HOMG2) [MIM 154020] A disorder due to primary renal wasting of magnesium. Plasma levels of other electrolytes are normal. The only abnormality found, in addition to low magnesium levels, is lowered renal excretion of calcium resulting in hypocalciuria. {ECO 0000269|PubMed 11062458}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DrugBank DB00606 Cyclothiazide # Ensembl ENST00000260287 ENSP00000260287; ENSG00000137731. [P54710-2] # Ensembl ENST00000292079 ENSP00000292079; ENSG00000137731. [P54710-1] # Ensembl ENST00000528014 ENSP00000432430; ENSG00000137731. [P54710-2] # Ensembl ENST00000532119 ENSP00000436414; ENSG00000137731. [P54710-2] # FUNCTION ATNG_HUMAN May be involved in forming the receptor site for cardiac glycoside binding or may modulate the transport function of the sodium ATPase. # GO_component ATNG_HUMAN GO 0005890 sodium potassium-exchanging ATPase complex; ISS BHF-UCL. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function ATNG_HUMAN GO 0005391 sodium potassium-exchanging ATPase activity; TAS ProtInc. # GO_function GO:0005215 transporter activity; TAS:ProtInc. # GO_function GO:0005216 ion channel activity; IEA:InterPro. # GO_function GO:0017080 sodium channel regulator activity; IBA:GO_Central. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0036376 sodium ion export from cell; ISS:BHF-UCL. # GO_process GO:0090662 ATP hydrolysis coupled transmembrane transport; ISS:BHF-UCL. # GO_process GO:1903779 regulation of cardiac conduction; TAS:Reactome. # GO_process GO:1990573 potassium ion import across plasma membrane; ISS:BHF-UCL. # GO_process GO:2000649 regulation of sodium ion transmembrane transporter activity; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0055085 transmembrane transport # Genevisible P54710 HS # HGNC HGNC:4026 FXYD2 # InterPro IPR000272 Ion-transport_regulator_FXYD # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02000 Transporters # KEGG_Disease H01210 [Inherited metabolic disease] Hypomagnesemia # KEGG_Pathway ko04260 Cardiac muscle contraction # KEGG_Pathway ko04960 Aldosterone-regulated sodium reabsorption # KEGG_Pathway ko04961 Endocrine and other factor-regulated calcium reabsorption # KEGG_Pathway ko04964 Proximal tubule bicarbonate reclamation # KEGG_Pathway ko04970 Salivary secretion # KEGG_Pathway ko04972 Pancreatic secretion # KEGG_Pathway ko04973 Carbohydrate digestion and absorption # KEGG_Pathway ko04974 Protein digestion and absorption # KEGG_Pathway ko04976 Bile secretion # KEGG_Pathway ko04978 Mineral absorption # MIM 154020 phenotype # MIM 601814 gene # Organism ATNG_HUMAN Homo sapiens (Human) # Orphanet 34528 Autosomal dominant primary hypomagnesemia with hypocalciuria # PDB 2MKV NMR; -; A=9-66 # PIR S54159 S54159 # PROSITE PS01310 FXYD # Pfam PF02038 ATP1G1_PLM_MAT8 # ProDom PD005989 PD005989 # Proteomes UP000005640 Chromosome 11 # Reactome R-HSA-5578775 Ion homeostasis # Reactome R-HSA-936837 Ion transport by P-type ATPases # RecName ATNG_HUMAN Sodium/potassium-transporting ATPase subunit gamma # RefSeq NP_001671 NM_001680.4. [P54710-1] # RefSeq NP_067614 NM_021603.3. [P54710-2] # SEQUENCE CAUTION Sequence=AAB09425.1; Type=Frameshift; Positions=12; Evidence={ECO:0000305}; Sequence=CAA60152.1; Type=Erroneous translation; Note=Wrong choice of frame.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the FXYD family. {ECO 0000305}. # SUBCELLULAR LOCATION ATNG_HUMAN Membrane {ECO 0000305}; Single-pass type III membrane protein {ECO 0000305}. # SUBUNIT Composed of three subunits alpha (catalytic), beta and gamma. # TCDB 1.A.27.2 the phospholemman (plm) family # TISSUE SPECIFICITY ATNG_HUMAN Expressed in the distal convoluted tubule in the kidney. Found on basolateral membranes of nephron epithelial cells. # UCSC uc001prj human. [P54710-1] # eggNOG ENOG410J35I Eukaryota # eggNOG ENOG410Z10F LUCA BLAST swissprot:ATNG_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ATNG_HUMAN BioCyc ZFISH:HS06384-MONOMER http://biocyc.org/getid?id=ZFISH:HS06384-MONOMER COXPRESdb 486 http://coxpresdb.jp/data/gene/486.shtml CleanEx HS_FXYD2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_FXYD2 DOI 10.1006/bbrc.2000.3907 http://dx.doi.org/10.1006/bbrc.2000.3907 DOI 10.1016/S0167-4781(96)00219-9 http://dx.doi.org/10.1016/S0167-4781(96)00219-9 DOI 10.1038/81543 http://dx.doi.org/10.1038/81543 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DrugBank DB00606 http://www.drugbank.ca/drugs/DB00606 EMBL AF241235 http://www.ebi.ac.uk/ena/data/view/AF241235 EMBL AF241235 http://www.ebi.ac.uk/ena/data/view/AF241235 EMBL AF241236 http://www.ebi.ac.uk/ena/data/view/AF241236 EMBL AF316896 http://www.ebi.ac.uk/ena/data/view/AF316896 EMBL AF316896 http://www.ebi.ac.uk/ena/data/view/AF316896 EMBL BC005302 http://www.ebi.ac.uk/ena/data/view/BC005302 EMBL BC013289 http://www.ebi.ac.uk/ena/data/view/BC013289 EMBL BT006721 http://www.ebi.ac.uk/ena/data/view/BT006721 EMBL U50743 http://www.ebi.ac.uk/ena/data/view/U50743 EMBL X86400 http://www.ebi.ac.uk/ena/data/view/X86400 Ensembl ENST00000260287 http://www.ensembl.org/id/ENST00000260287 Ensembl ENST00000292079 http://www.ensembl.org/id/ENST00000292079 Ensembl ENST00000528014 http://www.ensembl.org/id/ENST00000528014 Ensembl ENST00000532119 http://www.ensembl.org/id/ENST00000532119 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005890 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005890 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0005215 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005215 GO_function GO:0005216 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005216 GO_function GO:0005391 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005391 GO_function GO:0017080 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0017080 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0036376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0036376 GO_process GO:0090662 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090662 GO_process GO:1903779 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903779 GO_process GO:1990573 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1990573 GO_process GO:2000649 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000649 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards FXYD2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=FXYD2 GeneID 486 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=486 GeneTree ENSGT00530000063932 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000063932 HGNC HGNC:4026 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:4026 HOGENOM HOG000234468 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000234468&db=HOGENOM6 HOVERGEN HBG100880 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG100880&db=HOVERGEN HPA CAB004649 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB004649 HPA HPA068838 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA068838 InParanoid P54710 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P54710 InterPro IPR000272 http://www.ebi.ac.uk/interpro/entry/IPR000272 Jabion 486 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=486 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Disease H01210 http://www.genome.jp/dbget-bin/www_bget?H01210 KEGG_Gene hsa:486 http://www.genome.jp/dbget-bin/www_bget?hsa:486 KEGG_Orthology KO:K01538 http://www.genome.jp/dbget-bin/www_bget?KO:K01538 KEGG_Pathway ko04260 http://www.genome.jp/kegg-bin/show_pathway?ko04260 KEGG_Pathway ko04960 http://www.genome.jp/kegg-bin/show_pathway?ko04960 KEGG_Pathway ko04961 http://www.genome.jp/kegg-bin/show_pathway?ko04961 KEGG_Pathway ko04964 http://www.genome.jp/kegg-bin/show_pathway?ko04964 KEGG_Pathway ko04970 http://www.genome.jp/kegg-bin/show_pathway?ko04970 KEGG_Pathway ko04972 http://www.genome.jp/kegg-bin/show_pathway?ko04972 KEGG_Pathway ko04973 http://www.genome.jp/kegg-bin/show_pathway?ko04973 KEGG_Pathway ko04974 http://www.genome.jp/kegg-bin/show_pathway?ko04974 KEGG_Pathway ko04976 http://www.genome.jp/kegg-bin/show_pathway?ko04976 KEGG_Pathway ko04978 http://www.genome.jp/kegg-bin/show_pathway?ko04978 MIM 154020 http://www.ncbi.nlm.nih.gov/omim/154020 MIM 601814 http://www.ncbi.nlm.nih.gov/omim/601814 OMA DRWYLGG http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=DRWYLGG Orphanet 34528 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=34528 OrthoDB EOG091G13K5 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G13K5 PDB 2MKV http://www.ebi.ac.uk/pdbe-srv/view/entry/2MKV PDBsum 2MKV http://www.ebi.ac.uk/pdbsum/2MKV PROSITE PS01310 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS01310 PSORT swissprot:ATNG_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ATNG_HUMAN PSORT-B swissprot:ATNG_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ATNG_HUMAN PSORT2 swissprot:ATNG_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ATNG_HUMAN Pfam PF02038 http://pfam.xfam.org/family/PF02038 PharmGKB PA28442 http://www.pharmgkb.org/do/serve?objId=PA28442&objCls=Gene Phobius swissprot:ATNG_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ATNG_HUMAN PhylomeDB P54710 http://phylomedb.org/?seqid=P54710 ProteinModelPortal P54710 http://www.proteinmodelportal.org/query/uniprot/P54710 PubMed 11062458 http://www.ncbi.nlm.nih.gov/pubmed/11062458 PubMed 11112438 http://www.ncbi.nlm.nih.gov/pubmed/11112438 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 9048881 http://www.ncbi.nlm.nih.gov/pubmed/9048881 Reactome R-HSA-5578775 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5578775 Reactome R-HSA-936837 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-936837 RefSeq NP_001671 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001671 RefSeq NP_067614 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_067614 SMR P54710 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P54710 STRING 9606.ENSP00000292079 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000292079&targetmode=cogs TCDB 1.A.27.2 http://www.tcdb.org/search/result.php?tc=1.A.27.2 UCSC uc001prj http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001prj&org=rat UniGene Hs.731865 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.731865 UniProtKB ATNG_HUMAN http://www.uniprot.org/uniprot/ATNG_HUMAN UniProtKB-AC P54710 http://www.uniprot.org/uniprot/P54710 charge swissprot:ATNG_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ATNG_HUMAN eggNOG ENOG410J35I http://eggnogapi.embl.de/nog_data/html/tree/ENOG410J35I eggNOG ENOG410Z10F http://eggnogapi.embl.de/nog_data/html/tree/ENOG410Z10F epestfind swissprot:ATNG_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ATNG_HUMAN garnier swissprot:ATNG_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ATNG_HUMAN helixturnhelix swissprot:ATNG_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ATNG_HUMAN hmoment swissprot:ATNG_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ATNG_HUMAN iep swissprot:ATNG_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ATNG_HUMAN inforesidue swissprot:ATNG_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ATNG_HUMAN neXtProt NX_P54710 http://www.nextprot.org/db/entry/NX_P54710 octanol swissprot:ATNG_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ATNG_HUMAN pepcoil swissprot:ATNG_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ATNG_HUMAN pepdigest swissprot:ATNG_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ATNG_HUMAN pepinfo swissprot:ATNG_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ATNG_HUMAN pepnet swissprot:ATNG_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ATNG_HUMAN pepstats swissprot:ATNG_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ATNG_HUMAN pepwheel swissprot:ATNG_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ATNG_HUMAN pepwindow swissprot:ATNG_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ATNG_HUMAN sigcleave swissprot:ATNG_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ATNG_HUMAN ## Database ID URL or Descriptions # AltName MYCT_HUMAN H(+)-myo-inositol symporter # AltName MYCT_HUMAN Solute carrier family 2 member 13 # CDD cd06174 MFS # ChiTaRS SLC2A13 human # Ensembl ENST00000280871 ENSP00000280871; ENSG00000151229 # ExpressionAtlas Q96QE2 baseline and differential # FUNCTION MYCT_HUMAN H(+)-myo-inositol cotransporter. Can also transport related stereoisomers. {ECO 0000269|PubMed 11500374}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_function GO:0005355 glucose transmembrane transporter activity; IBA:GO_Central. # GO_function MYCT_HUMAN GO 0005351 sugar proton symporter activity; IBA GO_Central. # GO_function MYCT_HUMAN GO 0005366 myo-inositol proton symporter activity; TAS Reactome. # GO_process GO:0035428 hexose transmembrane transport; IBA:GO_Central. # GO_process GO:0046323 glucose import; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0055085 transmembrane transport # Genevisible Q96QE2 HS # HGNC HGNC:15956 SLC2A13 # InterPro IPR003663 Sugar/inositol_transpt # InterPro IPR005828 MFS_sugar_transport-like # InterPro IPR005829 Sugar_transporter_CS # InterPro IPR020846 MFS_dom # KEGG_Brite ko02000 Transporters # KEGG_Brite ko02001 Solute carrier family # MIM 611036 gene # Organism MYCT_HUMAN Homo sapiens (Human) # PRINTS PR00171 SUGRTRNSPORT # PROSITE PS00216 SUGAR_TRANSPORT_1 # PROSITE PS00217 SUGAR_TRANSPORT_2 # PROSITE PS50850 MFS # PTM MYCT_HUMAN Glycosylated. {ECO 0000269|PubMed 11500374}. # Pfam PF00083 Sugar_tr; 2 # Proteomes UP000005640 Chromosome 12 # Reactome R-HSA-429593 Inositol transporters # RecName MYCT_HUMAN Proton myo-inositol cotransporter # RefSeq NP_443117 NM_052885.3 # SEQUENCE CAUTION Sequence=AAI17118.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAI17120.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; Sequence=CAC51116.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; # SIMILARITY Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. {ECO 0000305}. # SUBCELLULAR LOCATION MYCT_HUMAN Membrane {ECO 0000269|PubMed 11500374}; Multi-pass membrane protein {ECO 0000269|PubMed 11500374}. # SUPFAM SSF103473 SSF103473; 2 # TCDB 2.A.1.1.25 the major facilitator superfamily (mfs) # TIGRFAMs TIGR00879 SP # TISSUE SPECIFICITY Predominantly expressed in the brain. {ECO:0000269|PubMed 11500374}. # UCSC uc010skm human # eggNOG ENOG410XNQK LUCA # eggNOG KOG0254 Eukaryota BLAST swissprot:MYCT_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:MYCT_HUMAN BioCyc ZFISH:ENSG00000151229-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000151229-MONOMER COG COG0477 http://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=COG0477 COXPRESdb 114134 http://coxpresdb.jp/data/gene/114134.shtml CleanEx HS_SLC2A13 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC2A13 DOI 10.1016/j.cell.2006.09.026 http://dx.doi.org/10.1016/j.cell.2006.09.026 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/ac9004309 http://dx.doi.org/10.1021/ac9004309 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1093/emboj/20.16.4467 http://dx.doi.org/10.1093/emboj/20.16.4467 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 EMBL AJ315644 http://www.ebi.ac.uk/ena/data/view/AJ315644 EMBL BC117117 http://www.ebi.ac.uk/ena/data/view/BC117117 EMBL BC117119 http://www.ebi.ac.uk/ena/data/view/BC117119 Ensembl ENST00000280871 http://www.ensembl.org/id/ENST00000280871 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0005351 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005351 GO_function GO:0005355 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005355 GO_function GO:0005366 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005366 GO_process GO:0035428 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035428 GO_process GO:0046323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046323 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC2A13 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC2A13 GeneID 114134 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=114134 GeneTree ENSGT00850000132274 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00850000132274 H-InvDB HIX0026507 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0026507 HGNC HGNC:15956 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:15956 HOGENOM HOG000202868 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000202868&db=HOGENOM6 HOVERGEN HBG031722 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG031722&db=HOVERGEN HPA HPA006584 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA006584 InParanoid Q96QE2 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q96QE2 InterPro IPR003663 http://www.ebi.ac.uk/interpro/entry/IPR003663 InterPro IPR005828 http://www.ebi.ac.uk/interpro/entry/IPR005828 InterPro IPR005829 http://www.ebi.ac.uk/interpro/entry/IPR005829 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 114134 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=114134 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:114134 http://www.genome.jp/dbget-bin/www_bget?hsa:114134 KEGG_Orthology KO:K08150 http://www.genome.jp/dbget-bin/www_bget?KO:K08150 MIM 611036 http://www.ncbi.nlm.nih.gov/omim/611036 OMA RKYSLMI http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=RKYSLMI OrthoDB EOG091G046D http://cegg.unige.ch/orthodb/results?searchtext=EOG091G046D PRINTS PR00171 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00171 PROSITE PS00216 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00216 PROSITE PS00217 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00217 PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PSORT swissprot:MYCT_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:MYCT_HUMAN PSORT-B swissprot:MYCT_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:MYCT_HUMAN PSORT2 swissprot:MYCT_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:MYCT_HUMAN Pfam PF00083 http://pfam.xfam.org/family/PF00083 PharmGKB PA38066 http://www.pharmgkb.org/do/serve?objId=PA38066&objCls=Gene Phobius swissprot:MYCT_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:MYCT_HUMAN PhylomeDB Q96QE2 http://phylomedb.org/?seqid=Q96QE2 ProteinModelPortal Q96QE2 http://www.proteinmodelportal.org/query/uniprot/Q96QE2 PubMed 11500374 http://www.ncbi.nlm.nih.gov/pubmed/11500374 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 17081983 http://www.ncbi.nlm.nih.gov/pubmed/17081983 PubMed 19413330 http://www.ncbi.nlm.nih.gov/pubmed/19413330 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 Reactome R-HSA-429593 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-429593 RefSeq NP_443117 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_443117 STRING 9606.ENSP00000280871 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000280871&targetmode=cogs STRING COG0477 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=COG0477&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.1.1.25 http://www.tcdb.org/search/result.php?tc=2.A.1.1.25 TIGRFAMs TIGR00879 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00879 UCSC uc010skm http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc010skm&org=rat UniGene Hs.558595 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.558595 UniProtKB MYCT_HUMAN http://www.uniprot.org/uniprot/MYCT_HUMAN UniProtKB-AC Q96QE2 http://www.uniprot.org/uniprot/Q96QE2 charge swissprot:MYCT_HUMAN http://rest.g-language.org/emboss/charge/swissprot:MYCT_HUMAN eggNOG ENOG410XNQK http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XNQK eggNOG KOG0254 http://eggnogapi.embl.de/nog_data/html/tree/KOG0254 epestfind swissprot:MYCT_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:MYCT_HUMAN garnier swissprot:MYCT_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:MYCT_HUMAN helixturnhelix swissprot:MYCT_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:MYCT_HUMAN hmoment swissprot:MYCT_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:MYCT_HUMAN iep swissprot:MYCT_HUMAN http://rest.g-language.org/emboss/iep/swissprot:MYCT_HUMAN inforesidue swissprot:MYCT_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:MYCT_HUMAN neXtProt NX_Q96QE2 http://www.nextprot.org/db/entry/NX_Q96QE2 octanol swissprot:MYCT_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:MYCT_HUMAN pepcoil swissprot:MYCT_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:MYCT_HUMAN pepdigest swissprot:MYCT_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:MYCT_HUMAN pepinfo swissprot:MYCT_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:MYCT_HUMAN pepnet swissprot:MYCT_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:MYCT_HUMAN pepstats swissprot:MYCT_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:MYCT_HUMAN pepwheel swissprot:MYCT_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:MYCT_HUMAN pepwindow swissprot:MYCT_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:MYCT_HUMAN sigcleave swissprot:MYCT_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:MYCT_HUMAN ## Database ID URL or Descriptions # AltName GBRA6_HUMAN GABA(A) receptor subunit alpha-6 # BioGrid 108833 12 # DrugBank DB00186 Lorazepam # DrugBank DB00189 Ethchlorvynol # DrugBank DB00228 Enflurane # DrugBank DB00231 Temazepam # DrugBank DB00237 Butabarbital # DrugBank DB00241 Butalbital # DrugBank DB00273 Topiramate # DrugBank DB00292 Etomidate # DrugBank DB00306 Talbutal # DrugBank DB00312 Pentobarbital # DrugBank DB00334 Olanzapine # DrugBank DB00349 Clobazam # DrugBank DB00371 Meprobamate # DrugBank DB00402 Eszopiclone # DrugBank DB00404 Alprazolam # DrugBank DB00418 Secobarbital # DrugBank DB00475 Chlordiazepoxide # DrugBank DB00543 Amoxapine # DrugBank DB00599 Thiopental # DrugBank DB00628 Clorazepate # DrugBank DB00659 Acamprosate # DrugBank DB00683 Midazolam # DrugBank DB00690 Flurazepam # DrugBank DB00753 Isoflurane # DrugBank DB00794 Primidone # DrugBank DB00801 Halazepam # DrugBank DB00818 Propofol # DrugBank DB00829 Diazepam # DrugBank DB00842 Oxazepam # DrugBank DB00849 Methylphenobarbital # DrugBank DB00897 Triazolam # DrugBank DB00898 Ethanol # DrugBank DB01028 Methoxyflurane # DrugBank DB01049 Ergoloid mesylate # DrugBank DB01068 Clonazepam # DrugBank DB01107 Methyprylon # DrugBank DB01159 Halothane # DrugBank DB01189 Desflurane # DrugBank DB01205 Flumazenil # DrugBank DB01215 Estazolam # DrugBank DB01236 Sevoflurane # DrugBank DB01351 Amobarbital # DrugBank DB01352 Aprobarbital # DrugBank DB01353 Butethal # DrugBank DB01354 Heptabarbital # DrugBank DB01355 Hexobarbital # DrugBank DB01437 Glutethimide # DrugBank DB01544 Flunitrazepam # DrugBank DB01558 Bromazepam # DrugBank DB01588 Prazepam # DrugBank DB01589 Quazepam # DrugBank DB01595 Nitrazepam # Ensembl ENST00000274545 ENSP00000274545; ENSG00000145863 # ExpressionAtlas Q16445 baseline and differential # FUNCTION GBRA6_HUMAN GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0034707 chloride channel complex; IEA:UniProtKB-KW. # GO_component GO:0045211 postsynaptic membrane; IEA:UniProtKB-SubCell. # GO_component GO:1902711 GABA-A receptor complex; IBA:GO_Central. # GO_function GO:0004890 GABA-A receptor activity; IEA:InterPro. # GO_function GO:0005230 extracellular ligand-gated ion channel activity; IEA:InterPro. # GO_function GO:0005254 chloride channel activity; IEA:UniProtKB-KW. # GO_function GO:0008503 benzodiazepine receptor activity; TAS:ProtInc. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0007165 signal transduction; TAS:ProtInc. # GO_process GO:0007214 gamma-aminobutyric acid signaling pathway; IEA:InterPro. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0055085 transmembrane transport # Gene3D 2.70.170.10 -; 1. # Genevisible Q16445 HS # HGNC HGNC:4080 GABRA6 # InterPro IPR001390 GABAAa_rcpt # InterPro IPR005436 GABBAa6_rcpt # InterPro IPR006028 GABAA/Glycine_rcpt # InterPro IPR006029 Neurotrans-gated_channel_TM # InterPro IPR006201 Neur_channel # InterPro IPR006202 Neur_chan_lig-bd # InterPro IPR018000 Neurotransmitter_ion_chnl_CS # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04080 Neuroactive ligand-receptor interaction # KEGG_Pathway ko04723 Retrograde endocannabinoid signaling # KEGG_Pathway ko04727 GABAergic synapse # KEGG_Pathway ko05032 Morphine addiction # KEGG_Pathway ko05033 Nicotine addiction # MIM 137143 gene # Organism GBRA6_HUMAN Homo sapiens (Human) # PANTHER PTHR18945 PTHR18945; 2 # PRINTS PR00252 NRIONCHANNEL # PRINTS PR00253 GABAARECEPTR # PRINTS PR01079 GABAARALPHA # PRINTS PR01619 GABAARALPHA6 # PROSITE PS00236 NEUROTR_ION_CHANNEL # Pfam PF02931 Neur_chan_LBD # Pfam PF02932 Neur_chan_memb # Proteomes UP000005640 Chromosome 5 # Reactome R-HSA-112314 Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell # Reactome R-HSA-975298 Ligand-gated ion channel transport # Reactome R-HSA-977441 GABA A receptor activation # RecName GBRA6_HUMAN Gamma-aminobutyric acid receptor subunit alpha-6 # RefSeq NP_000802 NM_000811.2 # SIMILARITY Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRA6 sub-subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION GBRA6_HUMAN Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. # SUBUNIT Binds UBQLN1 (By similarity). Generally pentameric. There are five types of GABA(A) receptor chains: alpha, beta, gamma, delta, and rho. {ECO 0000250}. # SUPFAM SSF63712 SSF63712 # SUPFAM SSF90112 SSF90112 # TIGRFAMs TIGR00860 LIC # UCSC uc003lyu human # WEB RESOURCE GBRA6_HUMAN Name=Protein Spotlight; Note=Forbidden fruit - Issue 56 of March 2005; URL="http //web.expasy.org/spotlight/back_issues/056"; # eggNOG ENOG410XNQG LUCA # eggNOG KOG3642 Eukaryota BLAST swissprot:GBRA6_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:GBRA6_HUMAN BioCyc ZFISH:ENSG00000145863-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000145863-MONOMER COXPRESdb 2559 http://coxpresdb.jp/data/gene/2559.shtml CleanEx HS_GABRA6 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_GABRA6 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1133427 http://dx.doi.org/10.1126/science.1133427 DrugBank DB00186 http://www.drugbank.ca/drugs/DB00186 DrugBank DB00189 http://www.drugbank.ca/drugs/DB00189 DrugBank DB00228 http://www.drugbank.ca/drugs/DB00228 DrugBank DB00231 http://www.drugbank.ca/drugs/DB00231 DrugBank DB00237 http://www.drugbank.ca/drugs/DB00237 DrugBank DB00241 http://www.drugbank.ca/drugs/DB00241 DrugBank DB00273 http://www.drugbank.ca/drugs/DB00273 DrugBank DB00292 http://www.drugbank.ca/drugs/DB00292 DrugBank DB00306 http://www.drugbank.ca/drugs/DB00306 DrugBank DB00312 http://www.drugbank.ca/drugs/DB00312 DrugBank DB00334 http://www.drugbank.ca/drugs/DB00334 DrugBank DB00349 http://www.drugbank.ca/drugs/DB00349 DrugBank DB00371 http://www.drugbank.ca/drugs/DB00371 DrugBank DB00402 http://www.drugbank.ca/drugs/DB00402 DrugBank DB00404 http://www.drugbank.ca/drugs/DB00404 DrugBank DB00418 http://www.drugbank.ca/drugs/DB00418 DrugBank DB00475 http://www.drugbank.ca/drugs/DB00475 DrugBank DB00543 http://www.drugbank.ca/drugs/DB00543 DrugBank DB00599 http://www.drugbank.ca/drugs/DB00599 DrugBank DB00628 http://www.drugbank.ca/drugs/DB00628 DrugBank DB00659 http://www.drugbank.ca/drugs/DB00659 DrugBank DB00683 http://www.drugbank.ca/drugs/DB00683 DrugBank DB00690 http://www.drugbank.ca/drugs/DB00690 DrugBank DB00753 http://www.drugbank.ca/drugs/DB00753 DrugBank DB00794 http://www.drugbank.ca/drugs/DB00794 DrugBank DB00801 http://www.drugbank.ca/drugs/DB00801 DrugBank DB00818 http://www.drugbank.ca/drugs/DB00818 DrugBank DB00829 http://www.drugbank.ca/drugs/DB00829 DrugBank DB00842 http://www.drugbank.ca/drugs/DB00842 DrugBank DB00849 http://www.drugbank.ca/drugs/DB00849 DrugBank DB00897 http://www.drugbank.ca/drugs/DB00897 DrugBank DB00898 http://www.drugbank.ca/drugs/DB00898 DrugBank DB01028 http://www.drugbank.ca/drugs/DB01028 DrugBank DB01049 http://www.drugbank.ca/drugs/DB01049 DrugBank DB01068 http://www.drugbank.ca/drugs/DB01068 DrugBank DB01107 http://www.drugbank.ca/drugs/DB01107 DrugBank DB01159 http://www.drugbank.ca/drugs/DB01159 DrugBank DB01189 http://www.drugbank.ca/drugs/DB01189 DrugBank DB01205 http://www.drugbank.ca/drugs/DB01205 DrugBank DB01215 http://www.drugbank.ca/drugs/DB01215 DrugBank DB01236 http://www.drugbank.ca/drugs/DB01236 DrugBank DB01351 http://www.drugbank.ca/drugs/DB01351 DrugBank DB01352 http://www.drugbank.ca/drugs/DB01352 DrugBank DB01353 http://www.drugbank.ca/drugs/DB01353 DrugBank DB01354 http://www.drugbank.ca/drugs/DB01354 DrugBank DB01355 http://www.drugbank.ca/drugs/DB01355 DrugBank DB01437 http://www.drugbank.ca/drugs/DB01437 DrugBank DB01544 http://www.drugbank.ca/drugs/DB01544 DrugBank DB01558 http://www.drugbank.ca/drugs/DB01558 DrugBank DB01588 http://www.drugbank.ca/drugs/DB01588 DrugBank DB01589 http://www.drugbank.ca/drugs/DB01589 DrugBank DB01595 http://www.drugbank.ca/drugs/DB01595 EMBL AK289461 http://www.ebi.ac.uk/ena/data/view/AK289461 EMBL BC096241 http://www.ebi.ac.uk/ena/data/view/BC096241 EMBL BC096242 http://www.ebi.ac.uk/ena/data/view/BC096242 EMBL BC099640 http://www.ebi.ac.uk/ena/data/view/BC099640 EMBL BC099641 http://www.ebi.ac.uk/ena/data/view/BC099641 EMBL CH471062 http://www.ebi.ac.uk/ena/data/view/CH471062 EMBL S81944 http://www.ebi.ac.uk/ena/data/view/S81944 Ensembl ENST00000274545 http://www.ensembl.org/id/ENST00000274545 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0034707 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034707 GO_component GO:0045211 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045211 GO_component GO:1902711 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902711 GO_function GO:0004890 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004890 GO_function GO:0005230 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005230 GO_function GO:0005254 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005254 GO_function GO:0008503 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008503 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GO_process GO:0007214 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007214 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 2.70.170.10 http://www.cathdb.info/version/latest/superfamily/2.70.170.10 GeneCards GABRA6 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=GABRA6 GeneID 2559 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=2559 GeneTree ENSGT00760000119010 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119010 H-InvDB HIX0005382 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0005382 HGNC HGNC:4080 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:4080 HOGENOM HOG000231337 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231337&db=HOGENOM6 HOVERGEN HBG051707 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG051707&db=HOVERGEN HPA CAB022462 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB022462 HPA HPA019188 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA019188 HPA HPA058329 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA058329 InParanoid Q16445 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q16445 IntAct Q16445 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q16445* InterPro IPR001390 http://www.ebi.ac.uk/interpro/entry/IPR001390 InterPro IPR005436 http://www.ebi.ac.uk/interpro/entry/IPR005436 InterPro IPR006028 http://www.ebi.ac.uk/interpro/entry/IPR006028 InterPro IPR006029 http://www.ebi.ac.uk/interpro/entry/IPR006029 InterPro IPR006201 http://www.ebi.ac.uk/interpro/entry/IPR006201 InterPro IPR006202 http://www.ebi.ac.uk/interpro/entry/IPR006202 InterPro IPR018000 http://www.ebi.ac.uk/interpro/entry/IPR018000 Jabion 2559 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=2559 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:2559 http://www.genome.jp/dbget-bin/www_bget?hsa:2559 KEGG_Orthology KO:K05175 http://www.genome.jp/dbget-bin/www_bget?KO:K05175 KEGG_Pathway ko04080 http://www.genome.jp/kegg-bin/show_pathway?ko04080 KEGG_Pathway ko04723 http://www.genome.jp/kegg-bin/show_pathway?ko04723 KEGG_Pathway ko04727 http://www.genome.jp/kegg-bin/show_pathway?ko04727 KEGG_Pathway ko05032 http://www.genome.jp/kegg-bin/show_pathway?ko05032 KEGG_Pathway ko05033 http://www.genome.jp/kegg-bin/show_pathway?ko05033 MIM 137143 http://www.ncbi.nlm.nih.gov/omim/137143 OMA PWLYIIL http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=PWLYIIL OrthoDB EOG091G0805 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0805 PANTHER PTHR18945 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR18945 PRINTS PR00252 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00252 PRINTS PR00253 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00253 PRINTS PR01079 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01079 PRINTS PR01619 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01619 PROSITE PS00236 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00236 PSORT swissprot:GBRA6_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:GBRA6_HUMAN PSORT-B swissprot:GBRA6_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:GBRA6_HUMAN PSORT2 swissprot:GBRA6_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:GBRA6_HUMAN Pfam PF02931 http://pfam.xfam.org/family/PF02931 Pfam PF02932 http://pfam.xfam.org/family/PF02932 PharmGKB PA28494 http://www.pharmgkb.org/do/serve?objId=PA28494&objCls=Gene Phobius swissprot:GBRA6_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:GBRA6_HUMAN PhylomeDB Q16445 http://phylomedb.org/?seqid=Q16445 ProteinModelPortal Q16445 http://www.proteinmodelportal.org/query/uniprot/Q16445 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16959974 http://www.ncbi.nlm.nih.gov/pubmed/16959974 PubMed 8632757 http://www.ncbi.nlm.nih.gov/pubmed/8632757 Reactome R-HSA-112314 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-112314 Reactome R-HSA-975298 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-975298 Reactome R-HSA-977441 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-977441 RefSeq NP_000802 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000802 STRING 9606.ENSP00000274545 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000274545&targetmode=cogs SUPFAM SSF63712 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF63712 SUPFAM SSF90112 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF90112 TIGRFAMs TIGR00860 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00860 UCSC uc003lyu http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003lyu&org=rat UniGene Hs.90791 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.90791 UniProtKB GBRA6_HUMAN http://www.uniprot.org/uniprot/GBRA6_HUMAN UniProtKB-AC Q16445 http://www.uniprot.org/uniprot/Q16445 charge swissprot:GBRA6_HUMAN http://rest.g-language.org/emboss/charge/swissprot:GBRA6_HUMAN eggNOG ENOG410XNQG http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XNQG eggNOG KOG3642 http://eggnogapi.embl.de/nog_data/html/tree/KOG3642 epestfind swissprot:GBRA6_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:GBRA6_HUMAN garnier swissprot:GBRA6_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:GBRA6_HUMAN helixturnhelix swissprot:GBRA6_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:GBRA6_HUMAN hmoment swissprot:GBRA6_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:GBRA6_HUMAN iep swissprot:GBRA6_HUMAN http://rest.g-language.org/emboss/iep/swissprot:GBRA6_HUMAN inforesidue swissprot:GBRA6_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:GBRA6_HUMAN neXtProt NX_Q16445 http://www.nextprot.org/db/entry/NX_Q16445 octanol swissprot:GBRA6_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:GBRA6_HUMAN pepcoil swissprot:GBRA6_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:GBRA6_HUMAN pepdigest swissprot:GBRA6_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:GBRA6_HUMAN pepinfo swissprot:GBRA6_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:GBRA6_HUMAN pepnet swissprot:GBRA6_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:GBRA6_HUMAN pepstats swissprot:GBRA6_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:GBRA6_HUMAN pepwheel swissprot:GBRA6_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:GBRA6_HUMAN pepwindow swissprot:GBRA6_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:GBRA6_HUMAN sigcleave swissprot:GBRA6_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:GBRA6_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS KCNQ1_HUMAN Event=Alternative splicing; Named isoforms=2; Comment=Additional isoforms seem to exist.; Name=1; IsoId=P51787-1; Sequence=Displayed; Name=2; Synonyms=TKvLQT1; IsoId=P51787-2; Sequence=VSP_000981, VSP_000982; # AltName IKs producing slow voltage-gated potassium channel subunit alpha KvLQT1 {ECO:0000305|PubMed 9312006} # AltName KQT-like 1 {ECO 0000305} # AltName Voltage-gated potassium channel subunit Kv7.1 {ECO:0000305|PubMed 20533308} # BioGrid 109985 15 # CCDS CCDS7736 -. [P51787-1] # ChiTaRS KCNQ1 human # DISEASE KCNQ1_HUMAN Atrial fibrillation, familial, 3 (ATFB3) [MIM 607554] An autosomal dominant form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. {ECO 0000269|PubMed 12522251}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE KCNQ1_HUMAN Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM 125853] A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to the body's own insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. {ECO 0000269|PubMed 18711366, ECO 0000269|PubMed 18711367, ECO 0000269|PubMed 24390345}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. # DISEASE KCNQ1_HUMAN Jervell and Lange-Nielsen syndrome 1 (JLNS1) [MIM 220400] An autosomal recessive disorder characterized by congenital deafness, prolongation of the QT interval, syncopal attacks due to ventricular arrhythmias, and a high risk of sudden death. {ECO 0000269|PubMed 10090886, ECO 0000269|PubMed 10728423, ECO 0000269|PubMed 18400097, ECO 0000269|PubMed 18441444, ECO 0000269|PubMed 25705178, ECO 0000269|PubMed 9781056}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE KCNQ1_HUMAN Long QT syndrome 1 (LQT1) [MIM 192500] A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. {ECO 0000269|PubMed 10024302, ECO 0000269|PubMed 10220144, ECO 0000269|PubMed 10220146, ECO 0000269|PubMed 10367071, ECO 0000269|PubMed 10409658, ECO 0000269|PubMed 10482963, ECO 0000269|PubMed 10728423, ECO 0000269|PubMed 10973849, ECO 0000269|PubMed 11799244, ECO 0000269|PubMed 12442276, ECO 0000269|PubMed 15840476, ECO 0000269|PubMed 16414944, ECO 0000269|PubMed 16922724, ECO 0000269|PubMed 18165683, ECO 0000269|PubMed 18400097, ECO 0000269|PubMed 19540844, ECO 0000269|PubMed 19716085, ECO 0000269|PubMed 21241800, ECO 0000269|PubMed 24184248, ECO 0000269|PubMed 24269949, ECO 0000269|PubMed 24713462, ECO 0000269|PubMed 25037568, ECO 0000269|PubMed 25139741, ECO 0000269|PubMed 25705178, ECO 0000269|PubMed 8528244, ECO 0000269|PubMed 8818942, ECO 0000269|PubMed 8872472, ECO 0000269|PubMed 9024139, ECO 0000269|PubMed 9272155, ECO 0000269|PubMed 9302275, ECO 0000269|PubMed 9312006, ECO 0000269|PubMed 9323054, ECO 0000269|PubMed 9386136, ECO 0000269|PubMed 9482580, ECO 0000269|PubMed 9570196, ECO 0000269|PubMed 9641694, ECO 0000269|PubMed 9693036, ECO 0000269|PubMed 9702906, ECO 0000269|PubMed 9799083, ECO 0000269|PubMed 9927399, ECO 0000269|Ref.31}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE KCNQ1_HUMAN Short QT syndrome 2 (SQT2) [MIM 609621] A heart disorder characterized by idiopathic persistently and uniformly short QT interval on ECG in the absence of structural heart disease in affected individuals. It causes syncope and sudden death. {ECO 0000269|PubMed 15159330}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DOMAIN KCNQ1_HUMAN The C-terminal assembly domain promotes self-interactiona; allows functional channel. {ECO 0000269|PubMed 10654932}. # DOMAIN KCNQ1_HUMAN The coiled-coil domain mediates tetramerization. {ECO 0000269|PubMed 18165683, ECO 0000269|PubMed 19693805}. # DOMAIN KCNQ1_HUMAN The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position. # DOMAIN KCNQ1_HUMAN The segment S6 is involved in the inhibition of voltage- gated potassium channel activity by KCNE4. {ECO 0000269|PubMed 19687231}. # DrugBank DB00808 Indapamide # DrugBank DB01244 Bepridil # Ensembl ENST00000155840 ENSP00000155840; ENSG00000053918. [P51787-1] # Ensembl ENST00000335475 ENSP00000334497; ENSG00000053918. [P51787-2] # ExpressionAtlas P51787 baseline and differential # FUNCTION KCNQ1_HUMAN Isoform 2 Non-functional alone but modulatory when coexpressed with the full-length isoform 1. {ECO 0000269|PubMed 9305853}. # FUNCTION KCNQ1_HUMAN Potassium channel that plays an important role in a number of tissues, including heart, inner ear, stomach and colon (By similarity) (PubMed 10646604). Associates with KCNE beta subunits that modulates current kinetics (By similarity) (PubMed 9312006, PubMed 9108097, PubMed 8900283, PubMed 10646604, PubMed 11101505, PubMed 19687231). Induces a voltage-dependent by rapidly activating and slowly deactivating potassium-selective outward current (By similarity) (PubMed 9312006, PubMed 9108097, PubMed 8900283, PubMed 10646604, PubMed 11101505). Promotes also a delayed voltage activated potassium current showing outward rectification characteristic (By similarity). During beta- adrenergic receptor stimulation participates in cardiac repolarization by associating with KCNE1 to form the I(Ks) cardiac potassium current that increases the amplitude and slows down the activation kinetics of outward potassium current I(Ks) (By similarity) (PubMed 9312006, PubMed 9108097, PubMed 8900283, PubMed 10646604, PubMed 11101505). Muscarinic agonist oxotremorine-M strongly suppresses KCNQ1/KCNE1 current (PubMed 10713961). When associated with KCNE3, forms the potassium channel that is important for cyclic AMP-stimulated intestinal secretion of chloride ions (PubMed 10646604). This interaction with KCNE3 is reduced by 17beta-estradiol, resulting in the reduction of currents (By similarity). During conditions of increased substrate load, maintains the driving force for proximal tubular and intestinal sodium ions absorption, gastric acid secretion, and cAMP-induced jejunal chloride ions secretion (By similarity). Allows the provision of potassium ions to the luminal membrane of the secretory canaliculus in the resting state as well as during stimulated acid secretion (By similarity). When associated with KCNE2, forms a heterooligomer complex leading to currents with an apparently instantaneous activation, a rapid deactivation process and a linear current-voltage relationship and decreases the amplitude of the outward current (PubMed 11101505). When associated with KCNE4, inhibits voltage-gated potassium channel activity (PubMed 19687231). When associated with KCNE5, this complex only conducts current upon strong and continued depolarization (PubMed 12324418). Also forms a heterotetramer with KCNQ5; has a voltage-gated potassium channel activity (PubMed 24855057). Binds with phosphatidylinositol 4,5- bisphosphate (PubMed 25037568). {ECO 0000250|UniProtKB P97414, ECO 0000250|UniProtKB Q9Z0N7, ECO 0000269|PubMed 10646604, ECO 0000269|PubMed 10713961, ECO 0000269|PubMed 11101505, ECO 0000269|PubMed 12324418, ECO 0000269|PubMed 19687231, ECO 0000269|PubMed 24855057, ECO 0000269|PubMed 25037568, ECO 0000269|PubMed 8900283, ECO 0000269|PubMed 9108097, ECO 0000269|PubMed 9312006}. # GO_component GO:0005737 cytoplasm; IDA:UniProtKB. # GO_component GO:0005764 lysosome; IDA:BHF-UCL. # GO_component GO:0005769 early endosome; IDA:BHF-UCL. # GO_component GO:0005770 late endosome; IDA:BHF-UCL. # GO_component GO:0005783 endoplasmic reticulum; IDA:UniProtKB. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0008076 voltage-gated potassium channel complex; IDA:BHF-UCL. # GO_component GO:0016323 basolateral plasma membrane; IDA:UniProtKB. # GO_component GO:0030659 cytoplasmic vesicle membrane; IEA:UniProtKB-SubCell. # GO_component GO:0034702 ion channel complex; IPI:UniProtKB. # GO_component GO:0045121 membrane raft; IDA:UniProtKB. # GO_function GO:0005249 voltage-gated potassium channel activity; IDA:UniProtKB. # GO_function GO:0005251 delayed rectifier potassium channel activity; IDA:UniProtKB. # GO_function GO:0005516 calmodulin binding; IDA:BHF-UCL. # GO_function GO:0005546 phosphatidylinositol-4,5-bisphosphate binding; IDA:UniProtKB. # GO_function GO:0008157 protein phosphatase 1 binding; IDA:BHF-UCL. # GO_function GO:0015271 outward rectifier potassium channel activity; IDA:UniProtKB. # GO_function GO:0034236 protein kinase A catalytic subunit binding; IDA:BHF-UCL. # GO_function GO:0034237 protein kinase A regulatory subunit binding; IDA:BHF-UCL. # GO_function GO:0044325 ion channel binding; IPI:UniProtKB. # GO_function GO:0086008 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization; IMP:BHF-UCL. # GO_function GO:0086089 voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization; IMP:BHF-UCL. # GO_function GO:0097110 scaffold protein binding; IPI:BHF-UCL. # GO_function GO:1902282 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization; IMP:BHF-UCL. # GO_process GO:0006349 regulation of gene expression by genetic imprinting; IEA:Ensembl. # GO_process GO:0007605 sensory perception of sound; TAS:ProtInc. # GO_process GO:0008016 regulation of heart contraction; IC:BHF-UCL. # GO_process GO:0010460 positive regulation of heart rate; IMP:BHF-UCL. # GO_process GO:0016458 gene silencing; IEA:Ensembl. # GO_process GO:0035690 cellular response to drug; IDA:BHF-UCL. # GO_process GO:0048839 inner ear development; ISS:UniProtKB. # GO_process GO:0050892 intestinal absorption; ISS:UniProtKB. # GO_process GO:0060048 cardiac muscle contraction; IMP:BHF-UCL. # GO_process GO:0060306 regulation of membrane repolarization; IDA:BHF-UCL. # GO_process GO:0060307 regulation of ventricular cardiac muscle cell membrane repolarization; IMP:BHF-UCL. # GO_process GO:0060372 regulation of atrial cardiac muscle cell membrane repolarization; IMP:BHF-UCL. # GO_process GO:0060452 positive regulation of cardiac muscle contraction; IMP:BHF-UCL. # GO_process GO:0060453 regulation of gastric acid secretion; ISS:UniProtKB. # GO_process GO:0061337 cardiac conduction; TAS:Reactome. # GO_process GO:0070293 renal absorption; ISS:UniProtKB. # GO_process GO:0071320 cellular response to cAMP; IDA:BHF-UCL. # GO_process GO:0071435 potassium ion export; IDA:BHF-UCL. # GO_process GO:0071805 potassium ion transmembrane transport; IDA:BHF-UCL. # GO_process GO:0071872 cellular response to epinephrine stimulus; TAS:BHF-UCL. # GO_process GO:0072358 cardiovascular system development; IEA:Ensembl. # GO_process GO:0086005 ventricular cardiac muscle cell action potential; IMP:BHF-UCL. # GO_process GO:0086011 membrane repolarization during action potential; IDA:BHF-UCL. # GO_process GO:0086013 membrane repolarization during cardiac muscle cell action potential; IMP:BHF-UCL. # GO_process GO:0086014 atrial cardiac muscle cell action potential; IMP:BHF-UCL. # GO_process GO:0086091 regulation of heart rate by cardiac conduction; IMP:BHF-UCL. # GO_process GO:0097623 potassium ion export across plasma membrane; IDA:BHF-UCL. # GO_process GO:0098915 membrane repolarization during ventricular cardiac muscle cell action potential; IMP:BHF-UCL. # GO_process GO:1901381 positive regulation of potassium ion transmembrane transport; IDA:BHF-UCL. # GO_process GO:1902260 negative regulation of delayed rectifier potassium channel activity; IDA:UniProtKB. # GO_process GO:1903817 negative regulation of voltage-gated potassium channel activity; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005764 lysosome # GOslim_component GO:0005768 endosome # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0008289 lipid binding # GOslim_function GO:0019899 enzyme binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0050877 neurological system process # GOslim_process GO:0055085 transmembrane transport # Genevisible P51787 HS # HGNC HGNC:6294 KCNQ1 # INTERACTION KCNQ1_HUMAN P15382 KCNE1; NbExp=4; IntAct=EBI-359667, EBI-7043557; # IntAct P51787 4 # InterPro IPR003937 K_chnl_volt-dep_KCNQ # InterPro IPR005821 Ion_trans_dom # InterPro IPR005827 K_chnl_volt-dep_KCQN1 # InterPro IPR013821 K_chnl_volt-dep_KCNQ_C # InterPro IPR028325 VG_K_chnl # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00409 [Metabolic disease; Endocrine disease] Type II diabetes mellitus # KEGG_Disease H00720 [Cardiovascular disease] Jervell and Lange-Nielsen syndrome (JLNS) # KEGG_Disease H00725 [Cardiovascular disease] Short QT syndrome # KEGG_Disease H00731 [Cardiovascular disease] Atrial fibrillation # KEGG_Pathway ko04725 Cholinergic synapse # KEGG_Pathway ko04971 Gastric acid secretion # KEGG_Pathway ko04972 Pancreatic secretion # KEGG_Pathway ko04974 Protein digestion and absorption # KEGG_Pathway ko05110 Vibrio cholerae infection # MIM 125853 phenotype # MIM 192500 phenotype # MIM 220400 phenotype # MIM 607542 gene # MIM 607554 phenotype # MIM 609621 phenotype # MISCELLANEOUS KCNQ1_HUMAN Mutagenesis experiments were carried out by expressing in Xenopus oocytes or COS-7 cells KCNQ1 mutants either individually (homomultimers) or in combination with both wild-type KCNQ1 (mut/wt homomultimers) and minK (heteromultimers). # Organism KCNQ1_HUMAN Homo sapiens (Human) # Orphanet 101016 Romano-Ward syndrome # Orphanet 334 Familial atrial fibrillation # Orphanet 51083 Familial short QT syndrome # Orphanet 90647 Jervell and Lange-Nielsen syndrome # PANTHER PTHR11537 PTHR11537; 2 # PANTHER PTHR11537:SF151 PTHR11537:SF151; 2 # PDB 3BJ4 X-ray; 2.00 A; A/B=574-622 # PDB 3HFC X-ray; 2.45 A; A/B/C=583-611 # PDB 3HFE X-ray; 1.70 A; A/B/C=583-611 # PDB 4UMO X-ray; 3.00 A; A/B=352-539 # PDB 4V0C X-ray; 2.86 A; A/B=352-539 # PRINTS PR00169 KCHANNEL # PRINTS PR01459 KCNQCHANNEL # PRINTS PR01460 KCNQ1CHANNEL # PTM KCNQ1_HUMAN Deubiquitinated by USP2; counteracts the NEDD4L-specific down-regulation of I(Ks) and restores the membrane localization. {ECO 0000269|PubMed 22024150}. # PTM KCNQ1_HUMAN Phosphorylation at Ser-27 by PKA; increases delayed rectifier potassium channel activity of the KCNQ1-KCNE1 complex through a macromolecular complex that includes PKA, PP1, and the targeting protein AKAP9. {ECO 0000269|PubMed 11799244, ECO 0000269|PubMed 25037568}. # PTM KCNQ1_HUMAN Ubiquitinated by NEDD4L; promotes internalization (PubMed 22024150). The ubiquitinylated form is internalized through a clathrin-mediated endocytosis by interacting with AP2M1 and is recycled back to the cell membrane via RAB4A and RAB11A (PubMed 23529131). {ECO 0000269|PubMed 22024150, ECO 0000269|PubMed 23529131}. # Pfam PF00520 Ion_trans # Pfam PF03520 KCNQ_channel # Proteomes UP000005640 Chromosome 11 # Reactome R-HSA-1296072 Voltage gated Potassium channels # Reactome R-HSA-5576890 Phase 3 - rapid repolarisation # Reactome R-HSA-5576893 Phase 2 - plateau phase # RecName Potassium voltage-gated channel subfamily KQT member 1 {ECO 0000305} # RefSeq NP_000209 NM_000218.2. [P51787-1] # RefSeq NP_861463 NM_181798.1. [P51787-2] # SEQUENCE CAUTION Sequence=AAC51781.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part.; Evidence={ECO:0000305}; Sequence=BAA34739.1; Type=Frameshift; Positions=129, 159; Evidence={ECO 0000305}; # SIMILARITY Belongs to the potassium channel family. KQT (TC 1.A.1.15) subfamily. Kv7.1/KCNQ1 sub-subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION KCNQ1_HUMAN Cell membrane {ECO 0000269|PubMed 10646604, ECO 0000269|PubMed 18165683, ECO 0000269|PubMed 21228319, ECO 0000269|PubMed 22024150, ECO 0000269|PubMed 25037568}; Multi- pass membrane protein {ECO 0000269|PubMed 18165683}. Cytoplasmic vesicle membrane {ECO 0000269|PubMed 18165683, ECO 0000269|PubMed 23529131}. Early endosome {ECO 0000269|PubMed 23529131}. Membrane raft {ECO 0000269|PubMed 20533308, ECO 0000269|PubMed 24855057}. Endoplasmic reticulum {ECO 0000269|PubMed 21228319, ECO 0000269|PubMed 24855057}. Basolateral cell membrane {ECO 0000269|PubMed 21228319}. Note=Colocalized with KCNE3 at the plasma membrane (PubMed 10646604). Upon 17beta-oestradiol treatment, colocalizes with RAB5A at early endosome (PubMed 23529131). Heterotetramer with KCNQ5 is highly retained at the endoplasmic reticulum and is localized outside of lipid raft microdomains (PubMed 24855057). During the early stages of epithelial cell polarization induced by the calcium switch it removed from plasma membrane to the endoplasmic reticulum where it retained and it is redistributed to the basolateral cell surface in a PI3K-dependent manner at a later stage (PubMed 21228319). {ECO 0000269|PubMed 10646604, ECO 0000269|PubMed 21228319, ECO 0000269|PubMed 23529131, ECO 0000269|PubMed 24855057}. # SUBUNIT KCNQ1_HUMAN Tetramer (PubMed 18165683, PubMed 19693805). Heterotetramer with KCNE1; targets to the membrane raft (PubMed 25037568, PubMed 19693805, PubMed 20533308). Interacts (via C-terminus) with CALM; forms a heterotetramer in a calcium- independent manner (PubMed 18165683). Interacts with AKAP9; targets protein kinase A (PKA) catalytic and regulatory subunits and protein phosphatase 1 (PP1) to the KCNQ1-KCNE1 complex, allowing PKA-mediated phosphorylation and increase of delayed rectifier potassium channel activity (PubMed 11799244, PubMed 25037568). Interacts with KCNE2; forms a heterooligomer complex that targets to the membrane raft and leading to currents with an apparently instantaneous activation, a rapid deactivation process and a linear current-voltage relationship and decreases the amplitude of the outward current (PubMed 11101505, PubMed 20533308). Interacts with AP2M1; mediates estrogen-induced internalization via clathrin-coated vesicles (PubMed 23529131). Interacts with NEDD4L; promotes internalization and decreases I(Ks) currents (PubMed 23529131, PubMed 22024150). Interacts with USP2; counteracts the NEDD4L-specific down-regulation of I(Ks) and restore plasma membrane localization (PubMed 22024150). Heterotetramer with KCNQ5; has a voltage-gated potassium channel activity (PubMed 24855057). Interacts with KCNE3; alters membrane raft localization (PubMed 20533308). Interacts with KCNE4; impairs KCNQ1 localization in lipid rafts and inhibits voltage-gated potassium channel activity (PubMed 19687231, PubMed 20533308). Interacts with KCNE5; impairs KCNQ1 localization in lipid rafts and only conducts current upon strong and continued depolarization (PubMed 20533308, PubMed 12324418). {ECO 0000269|PubMed 11101505, ECO 0000269|PubMed 11799244, ECO 0000269|PubMed 12324418, ECO 0000269|PubMed 18165683, ECO 0000269|PubMed 19687231, ECO 0000269|PubMed 19693805, ECO 0000269|PubMed 20533308, ECO 0000269|PubMed 22024150, ECO 0000269|PubMed 23529131, ECO 0000269|PubMed 24855057, ECO 0000269|PubMed 25037568}. # TCDB 1.A.1.15 the voltage-gated ion channel (vic) superfamily # TISSUE SPECIFICITY KCNQ1_HUMAN Abundantly expressed in heart, pancreas, prostate, kidney, small intestine and peripheral blood leukocytes. Less abundant in placenta, lung, spleen, colon, thymus, testis and ovaries. # UCSC uc001lwn human. [P51787-1] # WEB RESOURCE KCNQ1_HUMAN Name=Wikipedia; Note=KvLQT1 entry; URL="https //en.wikipedia.org/wiki/KvLQT1"; # eggNOG COG1226 LUCA # eggNOG KOG1419 Eukaryota BLAST swissprot:KCNQ1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCNQ1_HUMAN BioCyc ZFISH:ENSG00000053918-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000053918-MONOMER COXPRESdb 3784 http://coxpresdb.jp/data/gene/3784.shtml CleanEx HS_KCNQ1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNQ1 DIP DIP-27591N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-27591N DIP DIP-29941N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-29941N DOI 10.1001/jama.294.23.2975 http://dx.doi.org/10.1001/jama.294.23.2975 DOI 10.1002/(SICI)1096-8628(19990924)89:3<137::AID-AJMG4>3.3.CO http://dx.doi.org/10.1002/(SICI)1096-8628(19990924)89:3<137::AID-AJMG4>3.3.CO DOI 10.1002/(SICI)1098-1004(1998)11:2<158::AID-HUMU9>3.0.CO http://dx.doi.org/10.1002/(SICI)1098-1004(1998)11:2<158::AID-HUMU9>3.0.CO 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http://www.ebi.ac.uk/ena/data/view/AC124057 EMBL AF000571 http://www.ebi.ac.uk/ena/data/view/AF000571 EMBL AF051426 http://www.ebi.ac.uk/ena/data/view/AF051426 EMBL AJ006345 http://www.ebi.ac.uk/ena/data/view/AJ006345 EMBL AJ006345 http://www.ebi.ac.uk/ena/data/view/AJ006345 EMBL AK290618 http://www.ebi.ac.uk/ena/data/view/AK290618 EMBL AP006463 http://www.ebi.ac.uk/ena/data/view/AP006463 EMBL AY114213 http://www.ebi.ac.uk/ena/data/view/AY114213 EMBL BC113545 http://www.ebi.ac.uk/ena/data/view/BC113545 EMBL CH471158 http://www.ebi.ac.uk/ena/data/view/CH471158 EMBL KF455303 http://www.ebi.ac.uk/ena/data/view/KF455303 EMBL KF455304 http://www.ebi.ac.uk/ena/data/view/KF455304 EMBL KF455305 http://www.ebi.ac.uk/ena/data/view/KF455305 EMBL KF455306 http://www.ebi.ac.uk/ena/data/view/KF455306 EMBL KF459741 http://www.ebi.ac.uk/ena/data/view/KF459741 EMBL U86146 http://www.ebi.ac.uk/ena/data/view/U86146 EMBL U89364 http://www.ebi.ac.uk/ena/data/view/U89364 Ensembl ENST00000155840 http://www.ensembl.org/id/ENST00000155840 Ensembl ENST00000335475 http://www.ensembl.org/id/ENST00000335475 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005764 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005764 GO_component GO:0005769 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005769 GO_component GO:0005770 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005770 GO_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0008076 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008076 GO_component GO:0016323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016323 GO_component GO:0030659 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030659 GO_component GO:0034702 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034702 GO_component GO:0045121 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045121 GO_function GO:0005249 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005249 GO_function GO:0005251 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005251 GO_function GO:0005516 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005516 GO_function GO:0005546 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005546 GO_function GO:0008157 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008157 GO_function GO:0015271 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015271 GO_function GO:0034236 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034236 GO_function GO:0034237 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034237 GO_function GO:0044325 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044325 GO_function GO:0086008 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086008 GO_function GO:0086089 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086089 GO_function GO:0097110 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097110 GO_function GO:1902282 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902282 GO_process GO:0006349 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006349 GO_process GO:0007605 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007605 GO_process GO:0008016 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008016 GO_process GO:0010460 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010460 GO_process GO:0016458 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016458 GO_process GO:0035690 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035690 GO_process GO:0048839 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048839 GO_process GO:0050892 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050892 GO_process GO:0060048 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060048 GO_process GO:0060306 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060306 GO_process GO:0060307 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060307 GO_process GO:0060372 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060372 GO_process GO:0060452 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060452 GO_process GO:0060453 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060453 GO_process GO:0061337 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061337 GO_process GO:0070293 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070293 GO_process GO:0071320 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071320 GO_process GO:0071435 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071435 GO_process GO:0071805 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071805 GO_process GO:0071872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071872 GO_process GO:0072358 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0072358 GO_process GO:0086005 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086005 GO_process GO:0086011 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086011 GO_process GO:0086013 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086013 GO_process GO:0086014 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086014 GO_process GO:0086091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086091 GO_process GO:0097623 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097623 GO_process GO:0098915 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0098915 GO_process GO:1901381 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1901381 GO_process GO:1902260 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902260 GO_process GO:1903817 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903817 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005764 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005764 GOslim_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0008289 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008289 GOslim_function GO:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards KCNQ1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNQ1 GeneID 3784 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=3784 GeneTree ENSGT00550000074513 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074513 HGNC HGNC:6294 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6294 HOGENOM HOG000220839 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000220839&db=HOGENOM6 HOVERGEN HBG059014 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG059014&db=HOVERGEN HPA CAB018656 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB018656 HPA HPA048553 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA048553 InParanoid P51787 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P51787 IntAct P51787 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P51787* InterPro IPR003937 http://www.ebi.ac.uk/interpro/entry/IPR003937 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR005827 http://www.ebi.ac.uk/interpro/entry/IPR005827 InterPro IPR013821 http://www.ebi.ac.uk/interpro/entry/IPR013821 InterPro IPR028325 http://www.ebi.ac.uk/interpro/entry/IPR028325 Jabion 3784 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=3784 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00409 http://www.genome.jp/dbget-bin/www_bget?H00409 KEGG_Disease H00720 http://www.genome.jp/dbget-bin/www_bget?H00720 KEGG_Disease H00725 http://www.genome.jp/dbget-bin/www_bget?H00725 KEGG_Disease H00731 http://www.genome.jp/dbget-bin/www_bget?H00731 KEGG_Gene hsa:3784 http://www.genome.jp/dbget-bin/www_bget?hsa:3784 KEGG_Orthology KO:K04926 http://www.genome.jp/dbget-bin/www_bget?KO:K04926 KEGG_Pathway ko04725 http://www.genome.jp/kegg-bin/show_pathway?ko04725 KEGG_Pathway ko04971 http://www.genome.jp/kegg-bin/show_pathway?ko04971 KEGG_Pathway ko04972 http://www.genome.jp/kegg-bin/show_pathway?ko04972 KEGG_Pathway ko04974 http://www.genome.jp/kegg-bin/show_pathway?ko04974 KEGG_Pathway ko05110 http://www.genome.jp/kegg-bin/show_pathway?ko05110 MIM 125853 http://www.ncbi.nlm.nih.gov/omim/125853 MIM 192500 http://www.ncbi.nlm.nih.gov/omim/192500 MIM 220400 http://www.ncbi.nlm.nih.gov/omim/220400 MIM 607542 http://www.ncbi.nlm.nih.gov/omim/607542 MIM 607554 http://www.ncbi.nlm.nih.gov/omim/607554 MIM 609621 http://www.ncbi.nlm.nih.gov/omim/609621 MINT MINT-1145466 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1145466 OMA EVSTPHF http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=EVSTPHF Orphanet 101016 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=101016 Orphanet 334 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=334 Orphanet 51083 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=51083 Orphanet 90647 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=90647 OrthoDB EOG091G02ZT http://cegg.unige.ch/orthodb/results?searchtext=EOG091G02ZT PANTHER PTHR11537 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11537 PANTHER PTHR11537:SF151 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11537:SF151 PDB 3BJ4 http://www.ebi.ac.uk/pdbe-srv/view/entry/3BJ4 PDB 3HFC http://www.ebi.ac.uk/pdbe-srv/view/entry/3HFC PDB 3HFE http://www.ebi.ac.uk/pdbe-srv/view/entry/3HFE PDB 4UMO http://www.ebi.ac.uk/pdbe-srv/view/entry/4UMO PDB 4V0C http://www.ebi.ac.uk/pdbe-srv/view/entry/4V0C PDBsum 3BJ4 http://www.ebi.ac.uk/pdbsum/3BJ4 PDBsum 3HFC http://www.ebi.ac.uk/pdbsum/3HFC PDBsum 3HFE http://www.ebi.ac.uk/pdbsum/3HFE PDBsum 4UMO http://www.ebi.ac.uk/pdbsum/4UMO PDBsum 4V0C http://www.ebi.ac.uk/pdbsum/4V0C PRINTS PR00169 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00169 PRINTS PR01459 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01459 PRINTS PR01460 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01460 PSORT swissprot:KCNQ1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCNQ1_HUMAN PSORT-B swissprot:KCNQ1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCNQ1_HUMAN PSORT2 swissprot:KCNQ1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCNQ1_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF03520 http://pfam.xfam.org/family/PF03520 PharmGKB PA223 http://www.pharmgkb.org/do/serve?objId=PA223&objCls=Gene Phobius swissprot:KCNQ1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCNQ1_HUMAN PhylomeDB P51787 http://phylomedb.org/?seqid=P51787 ProteinModelPortal P51787 http://www.proteinmodelportal.org/query/uniprot/P51787 PubMed 10024302 http://www.ncbi.nlm.nih.gov/pubmed/10024302 PubMed 10090886 http://www.ncbi.nlm.nih.gov/pubmed/10090886 PubMed 10220144 http://www.ncbi.nlm.nih.gov/pubmed/10220144 PubMed 10220146 http://www.ncbi.nlm.nih.gov/pubmed/10220146 PubMed 10367071 http://www.ncbi.nlm.nih.gov/pubmed/10367071 PubMed 10409658 http://www.ncbi.nlm.nih.gov/pubmed/10409658 PubMed 10482963 http://www.ncbi.nlm.nih.gov/pubmed/10482963 PubMed 10646604 http://www.ncbi.nlm.nih.gov/pubmed/10646604 PubMed 10654932 http://www.ncbi.nlm.nih.gov/pubmed/10654932 PubMed 10704188 http://www.ncbi.nlm.nih.gov/pubmed/10704188 PubMed 10713961 http://www.ncbi.nlm.nih.gov/pubmed/10713961 PubMed 10728423 http://www.ncbi.nlm.nih.gov/pubmed/10728423 PubMed 10973849 http://www.ncbi.nlm.nih.gov/pubmed/10973849 PubMed 11101505 http://www.ncbi.nlm.nih.gov/pubmed/11101505 PubMed 11799244 http://www.ncbi.nlm.nih.gov/pubmed/11799244 PubMed 12324418 http://www.ncbi.nlm.nih.gov/pubmed/12324418 PubMed 12442276 http://www.ncbi.nlm.nih.gov/pubmed/12442276 PubMed 12522251 http://www.ncbi.nlm.nih.gov/pubmed/12522251 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15159330 http://www.ncbi.nlm.nih.gov/pubmed/15159330 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15840476 http://www.ncbi.nlm.nih.gov/pubmed/15840476 PubMed 16414944 http://www.ncbi.nlm.nih.gov/pubmed/16414944 PubMed 16554811 http://www.ncbi.nlm.nih.gov/pubmed/16554811 PubMed 16922724 http://www.ncbi.nlm.nih.gov/pubmed/16922724 PubMed 18165683 http://www.ncbi.nlm.nih.gov/pubmed/18165683 PubMed 18400097 http://www.ncbi.nlm.nih.gov/pubmed/18400097 PubMed 18441444 http://www.ncbi.nlm.nih.gov/pubmed/18441444 PubMed 18711366 http://www.ncbi.nlm.nih.gov/pubmed/18711366 PubMed 18711367 http://www.ncbi.nlm.nih.gov/pubmed/18711367 PubMed 19540844 http://www.ncbi.nlm.nih.gov/pubmed/19540844 PubMed 19687231 http://www.ncbi.nlm.nih.gov/pubmed/19687231 PubMed 19693805 http://www.ncbi.nlm.nih.gov/pubmed/19693805 PubMed 19716085 http://www.ncbi.nlm.nih.gov/pubmed/19716085 PubMed 20533308 http://www.ncbi.nlm.nih.gov/pubmed/20533308 PubMed 21228319 http://www.ncbi.nlm.nih.gov/pubmed/21228319 PubMed 21241800 http://www.ncbi.nlm.nih.gov/pubmed/21241800 PubMed 22024150 http://www.ncbi.nlm.nih.gov/pubmed/22024150 PubMed 23529131 http://www.ncbi.nlm.nih.gov/pubmed/23529131 PubMed 24184248 http://www.ncbi.nlm.nih.gov/pubmed/24184248 PubMed 24269949 http://www.ncbi.nlm.nih.gov/pubmed/24269949 PubMed 24390345 http://www.ncbi.nlm.nih.gov/pubmed/24390345 PubMed 24713462 http://www.ncbi.nlm.nih.gov/pubmed/24713462 PubMed 24855057 http://www.ncbi.nlm.nih.gov/pubmed/24855057 PubMed 25037568 http://www.ncbi.nlm.nih.gov/pubmed/25037568 PubMed 25139741 http://www.ncbi.nlm.nih.gov/pubmed/25139741 PubMed 25705178 http://www.ncbi.nlm.nih.gov/pubmed/25705178 PubMed 8528244 http://www.ncbi.nlm.nih.gov/pubmed/8528244 PubMed 8818942 http://www.ncbi.nlm.nih.gov/pubmed/8818942 PubMed 8872472 http://www.ncbi.nlm.nih.gov/pubmed/8872472 PubMed 8900283 http://www.ncbi.nlm.nih.gov/pubmed/8900283 PubMed 9024139 http://www.ncbi.nlm.nih.gov/pubmed/9024139 PubMed 9108097 http://www.ncbi.nlm.nih.gov/pubmed/9108097 PubMed 9272155 http://www.ncbi.nlm.nih.gov/pubmed/9272155 PubMed 9302275 http://www.ncbi.nlm.nih.gov/pubmed/9302275 PubMed 9305853 http://www.ncbi.nlm.nih.gov/pubmed/9305853 PubMed 9312006 http://www.ncbi.nlm.nih.gov/pubmed/9312006 PubMed 9323054 http://www.ncbi.nlm.nih.gov/pubmed/9323054 PubMed 9386136 http://www.ncbi.nlm.nih.gov/pubmed/9386136 PubMed 9482580 http://www.ncbi.nlm.nih.gov/pubmed/9482580 PubMed 9570196 http://www.ncbi.nlm.nih.gov/pubmed/9570196 PubMed 9641694 http://www.ncbi.nlm.nih.gov/pubmed/9641694 PubMed 9693036 http://www.ncbi.nlm.nih.gov/pubmed/9693036 PubMed 9702906 http://www.ncbi.nlm.nih.gov/pubmed/9702906 PubMed 9781056 http://www.ncbi.nlm.nih.gov/pubmed/9781056 PubMed 9799083 http://www.ncbi.nlm.nih.gov/pubmed/9799083 PubMed 9927399 http://www.ncbi.nlm.nih.gov/pubmed/9927399 Reactome R-HSA-1296072 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1296072 Reactome R-HSA-5576890 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576890 Reactome R-HSA-5576893 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576893 RefSeq NP_000209 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000209 RefSeq NP_861463 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_861463 SMR P51787 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P51787 STRING 9606.ENSP00000155840 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000155840&targetmode=cogs TCDB 1.A.1.15 http://www.tcdb.org/search/result.php?tc=1.A.1.15 UCSC uc001lwn http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001lwn&org=rat UniGene Hs.95162 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.95162 UniProtKB KCNQ1_HUMAN http://www.uniprot.org/uniprot/KCNQ1_HUMAN UniProtKB-AC P51787 http://www.uniprot.org/uniprot/P51787 charge swissprot:KCNQ1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCNQ1_HUMAN eggNOG COG1226 http://eggnogapi.embl.de/nog_data/html/tree/COG1226 eggNOG KOG1419 http://eggnogapi.embl.de/nog_data/html/tree/KOG1419 epestfind swissprot:KCNQ1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCNQ1_HUMAN garnier swissprot:KCNQ1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCNQ1_HUMAN helixturnhelix swissprot:KCNQ1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCNQ1_HUMAN hmoment swissprot:KCNQ1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCNQ1_HUMAN iep swissprot:KCNQ1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCNQ1_HUMAN inforesidue swissprot:KCNQ1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCNQ1_HUMAN neXtProt NX_P51787 http://www.nextprot.org/db/entry/NX_P51787 octanol swissprot:KCNQ1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCNQ1_HUMAN pepcoil swissprot:KCNQ1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCNQ1_HUMAN pepdigest swissprot:KCNQ1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCNQ1_HUMAN pepinfo swissprot:KCNQ1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCNQ1_HUMAN pepnet swissprot:KCNQ1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCNQ1_HUMAN pepstats swissprot:KCNQ1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCNQ1_HUMAN pepwheel swissprot:KCNQ1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCNQ1_HUMAN pepwindow swissprot:KCNQ1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCNQ1_HUMAN sigcleave swissprot:KCNQ1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCNQ1_HUMAN ## Database ID URL or Descriptions # AltName COX42_HUMAN Cytochrome c oxidase subunit IV isoform 2 # BioGrid 124215 3 # CDD cd00922 Cyt_c_Oxidase_IV # DISEASE COX42_HUMAN Exocrine pancreatic insufficiency dyserythropoietic anemia and calvarial hyperostosis (EPIDACH) [MIM 612714] Patients present with pancreatic insufficiency, intestinal malabsorption, failure to thrive, and anemia soon after birth. {ECO 0000269|PubMed 19268275}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000376075 ENSP00000365243; ENSG00000131055 # ExpressionAtlas Q96KJ9 baseline and differential # FUNCTION COX42_HUMAN This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport. # GO_component GO:0005751 mitochondrial respiratory chain complex IV; IC:UniProtKB. # GO_function GO:0004129 cytochrome-c oxidase activity; IDA:UniProtKB. # GO_process GO:0006091 generation of precursor metabolites and energy; NAS:UniProtKB. # GO_process GO:0006123 mitochondrial electron transport, cytochrome c to oxygen; IBA:GO_Central. # GO_process GO:0045333 cellular respiration; NAS:UniProtKB. # GO_process GO:0055114 oxidation-reduction process; NAS:UniProtKB. # GOslim_component GO:0043234 protein complex # GOslim_function GO:0016491 oxidoreductase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006091 generation of precursor metabolites and energy # GOslim_process GO:0008150 biological_process # Gene3D 1.10.442.10 -; 1. # Genevisible Q96KJ9 HS # HGNC HGNC:16232 COX4I2 # InterPro IPR004203 Cyt_c_oxidase_su4_fam # InterPro IPR013288 Cyt_c_oxidase_su4 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Disease H00920 [Metabolic disease; Pancreas disease; Hematologic disease; Skeletal dysplasia] Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis # KEGG_Pathway ko00190 Oxidative phosphorylation # KEGG_Pathway ko04260 Cardiac muscle contraction # KEGG_Pathway ko05010 Alzheimer's disease # KEGG_Pathway ko05012 Parkinson's disease # KEGG_Pathway ko05016 Huntington's disease # MIM 607976 gene # MIM 612714 phenotype # Organism COX42_HUMAN Homo sapiens (Human) # Orphanet 199337 Pancreatic insufficiency - anemia - hyperostosis # PANTHER PTHR10707 PTHR10707 # PRINTS PR01873 CYTCOXIDASE4 # Pfam PF02936 COX4 # Proteomes UP000005640 Chromosome 20 # RecName COX42_HUMAN Cytochrome c oxidase subunit 4 isoform 2, mitochondrial # RefSeq NP_115998 NM_032609.2 # SIMILARITY Belongs to the cytochrome c oxidase IV family. {ECO 0000305}. # SUBCELLULAR LOCATION COX42_HUMAN Mitochondrion inner membrane. # SUPFAM SSF81406 SSF81406 # TCDB 3.D.4.11 the proton-translocating cytochrome oxidase (cox) superfamily # TISSUE SPECIFICITY COX42_HUMAN Highly expressed in lung. # UCSC uc002wwj human # eggNOG ENOG4111T97 LUCA # eggNOG KOG4075 Eukaryota BLAST swissprot:COX42_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:COX42_HUMAN BioCyc ZFISH:HS05480-MONOMER http://biocyc.org/getid?id=ZFISH:HS05480-MONOMER COXPRESdb 84701 http://coxpresdb.jp/data/gene/84701.shtml CleanEx HS_COX4I2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_COX4I2 DOI 10.1016/S0378-1119(01)00385-7 http://dx.doi.org/10.1016/S0378-1119(01)00385-7 DOI 10.1016/j.ajhg.2009.02.006 http://dx.doi.org/10.1016/j.ajhg.2009.02.006 DOI 10.1038/414865a http://dx.doi.org/10.1038/414865a DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AF257180 http://www.ebi.ac.uk/ena/data/view/AF257180 EMBL AL117381 http://www.ebi.ac.uk/ena/data/view/AL117381 EMBL BC057779 http://www.ebi.ac.uk/ena/data/view/BC057779 Ensembl ENST00000376075 http://www.ensembl.org/id/ENST00000376075 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005751 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005751 GO_function GO:0004129 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004129 GO_process GO:0006091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006091 GO_process GO:0006123 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006123 GO_process GO:0045333 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045333 GO_process GO:0055114 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055114 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0016491 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016491 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006091 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 Gene3D 1.10.442.10 http://www.cathdb.info/version/latest/superfamily/1.10.442.10 GeneCards COX4I2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=COX4I2 GeneID 84701 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=84701 GeneTree ENSGT00390000002407 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000002407 HGNC HGNC:16232 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:16232 HOGENOM HOG000231486 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231486&db=HOGENOM6 HOVERGEN HBG051087 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG051087&db=HOVERGEN HPA HPA029307 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA029307 InParanoid Q96KJ9 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q96KJ9 InterPro IPR004203 http://www.ebi.ac.uk/interpro/entry/IPR004203 InterPro IPR013288 http://www.ebi.ac.uk/interpro/entry/IPR013288 Jabion 84701 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=84701 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00002 http://www.genome.jp/dbget-bin/www_bget?ko00002 KEGG_Disease H00920 http://www.genome.jp/dbget-bin/www_bget?H00920 KEGG_Gene hsa:84701 http://www.genome.jp/dbget-bin/www_bget?hsa:84701 KEGG_Orthology KO:K02263 http://www.genome.jp/dbget-bin/www_bget?KO:K02263 KEGG_Pathway ko00190 http://www.genome.jp/kegg-bin/show_pathway?ko00190 KEGG_Pathway ko04260 http://www.genome.jp/kegg-bin/show_pathway?ko04260 KEGG_Pathway ko05010 http://www.genome.jp/kegg-bin/show_pathway?ko05010 KEGG_Pathway ko05012 http://www.genome.jp/kegg-bin/show_pathway?ko05012 KEGG_Pathway ko05016 http://www.genome.jp/kegg-bin/show_pathway?ko05016 MIM 607976 http://www.ncbi.nlm.nih.gov/omim/607976 MIM 612714 http://www.ncbi.nlm.nih.gov/omim/612714 OMA DYERKEW http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=DYERKEW Orphanet 199337 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=199337 OrthoDB EOG091G0XDH http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0XDH PANTHER PTHR10707 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10707 PRINTS PR01873 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01873 PSORT swissprot:COX42_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:COX42_HUMAN PSORT-B swissprot:COX42_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:COX42_HUMAN PSORT2 swissprot:COX42_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:COX42_HUMAN Pfam PF02936 http://pfam.xfam.org/family/PF02936 PharmGKB PA26783 http://www.pharmgkb.org/do/serve?objId=PA26783&objCls=Gene Phobius swissprot:COX42_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:COX42_HUMAN PhylomeDB Q96KJ9 http://phylomedb.org/?seqid=Q96KJ9 ProteinModelPortal Q96KJ9 http://www.proteinmodelportal.org/query/uniprot/Q96KJ9 PubMed 11311561 http://www.ncbi.nlm.nih.gov/pubmed/11311561 PubMed 11780052 http://www.ncbi.nlm.nih.gov/pubmed/11780052 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 19268275 http://www.ncbi.nlm.nih.gov/pubmed/19268275 RefSeq NP_115998 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_115998 SMR Q96KJ9 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q96KJ9 STRING 9606.ENSP00000365243 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000365243&targetmode=cogs SUPFAM SSF81406 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81406 TCDB 3.D.4.11 http://www.tcdb.org/search/result.php?tc=3.D.4.11 UCSC uc002wwj http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002wwj&org=rat UniGene Hs.277101 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.277101 UniProtKB COX42_HUMAN http://www.uniprot.org/uniprot/COX42_HUMAN UniProtKB-AC Q96KJ9 http://www.uniprot.org/uniprot/Q96KJ9 charge swissprot:COX42_HUMAN http://rest.g-language.org/emboss/charge/swissprot:COX42_HUMAN eggNOG ENOG4111T97 http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111T97 eggNOG KOG4075 http://eggnogapi.embl.de/nog_data/html/tree/KOG4075 epestfind swissprot:COX42_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:COX42_HUMAN garnier swissprot:COX42_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:COX42_HUMAN helixturnhelix swissprot:COX42_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:COX42_HUMAN hmoment swissprot:COX42_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:COX42_HUMAN iep swissprot:COX42_HUMAN http://rest.g-language.org/emboss/iep/swissprot:COX42_HUMAN inforesidue swissprot:COX42_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:COX42_HUMAN neXtProt NX_Q96KJ9 http://www.nextprot.org/db/entry/NX_Q96KJ9 octanol swissprot:COX42_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:COX42_HUMAN pepcoil swissprot:COX42_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:COX42_HUMAN pepdigest swissprot:COX42_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:COX42_HUMAN pepinfo swissprot:COX42_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:COX42_HUMAN pepnet swissprot:COX42_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:COX42_HUMAN pepstats swissprot:COX42_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:COX42_HUMAN pepwheel swissprot:COX42_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:COX42_HUMAN pepwindow swissprot:COX42_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:COX42_HUMAN sigcleave swissprot:COX42_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:COX42_HUMAN ## Database ID URL or Descriptions # AltName TM109_HUMAN Mitsugumin-23 # BioGrid 122524 17 # ChiTaRS TMEM109 human # Ensembl ENST00000227525 ENSP00000227525; ENSG00000110108 # Ensembl ENST00000536171 ENSP00000443990; ENSG00000110108 # FUNCTION TM109_HUMAN May mediate cellular response to DNA damage by protecting against ultraviolet C-induced cell death (PubMed 23542032). Can form voltage-gated calcium and potassium channels in vitro (By similarity). {ECO 0000250|UniProtKB O77751, ECO 0000269|PubMed 23542032}. # GO_component GO:0005640 nuclear outer membrane; IEA:UniProtKB-SubCell. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0033017 sarcoplasmic reticulum membrane; IEA:UniProtKB-SubCell. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0005244 voltage-gated ion channel activity; IEA:UniProtKB-KW. # GO_process GO:0042771 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator; IEA:Ensembl. # GO_process GO:0060548 negative regulation of cell death; IMP:MGI. # GO_process GO:0071480 cellular response to gamma radiation; IMP:MGI. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0043226 organelle # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # Genevisible Q9BVC6 HS # HGNC HGNC:28771 TMEM109 # IntAct Q9BVC6 24 # Organism TM109_HUMAN Homo sapiens (Human) # Proteomes UP000005640 Chromosome 11 # RecName TM109_HUMAN Transmembrane protein 109 # RefSeq NP_076997 NM_024092.2 # SUBCELLULAR LOCATION TM109_HUMAN Nucleus outer membrane {ECO 0000250|UniProtKB O77751}; Multi-pass membrane protein {ECO 0000250|UniProtKB O77751}. Endoplasmic reticulum membrane {ECO 0000250|UniProtKB O77751}; Multi-pass membrane protein {ECO 0000250|UniProtKB O77751}. Sarcoplasmic reticulum membrane {ECO 0000250|UniProtKB O77751}; Multi-pass membrane protein {ECO 0000250|UniProtKB O77751}. # SUBUNIT TM109_HUMAN Homooligomer (By similarity). Interacts with CRYAB (PubMed 23542032). {ECO 0000250|UniProtKB O77751, ECO 0000269|PubMed 23542032}. # TCDB 1.A.74.1 the mitsugumin 23 (mg23) family # UCSC uc001nqg human # eggNOG ENOG410IIBB Eukaryota # eggNOG ENOG410XXDM LUCA BLAST swissprot:TM109_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:TM109_HUMAN BioCyc ZFISH:ENSG00000110108-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000110108-MONOMER COXPRESdb 79073 http://coxpresdb.jp/data/gene/79073.shtml CleanEx HS_TMEM109 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_TMEM109 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1016/j.febslet.2013.03.024 http://dx.doi.org/10.1016/j.febslet.2013.03.024 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL BC001309 http://www.ebi.ac.uk/ena/data/view/BC001309 Ensembl ENST00000227525 http://www.ensembl.org/id/ENST00000227525 Ensembl ENST00000536171 http://www.ensembl.org/id/ENST00000536171 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005640 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005640 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0033017 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033017 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0005244 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005244 GO_process GO:0042771 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042771 GO_process GO:0060548 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060548 GO_process GO:0071480 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071480 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GeneCards TMEM109 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=TMEM109 GeneID 79073 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=79073 GeneTree ENSGT00390000015704 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000015704 HGNC HGNC:28771 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:28771 HOGENOM HOG000126892 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000126892&db=HOGENOM6 HOVERGEN HBG083664 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG083664&db=HOVERGEN HPA HPA011785 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA011785 InParanoid Q9BVC6 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9BVC6 IntAct Q9BVC6 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9BVC6* Jabion 79073 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=79073 KEGG_Gene hsa:79073 http://www.genome.jp/dbget-bin/www_bget?hsa:79073 MINT MINT-5003515 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-5003515 OMA PGQVQTF http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=PGQVQTF OrthoDB EOG091G0S01 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0S01 PSORT swissprot:TM109_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:TM109_HUMAN PSORT-B swissprot:TM109_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:TM109_HUMAN PSORT2 swissprot:TM109_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:TM109_HUMAN PharmGKB PA142670760 http://www.pharmgkb.org/do/serve?objId=PA142670760&objCls=Gene Phobius swissprot:TM109_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:TM109_HUMAN PhylomeDB Q9BVC6 http://phylomedb.org/?seqid=Q9BVC6 ProteinModelPortal Q9BVC6 http://www.proteinmodelportal.org/query/uniprot/Q9BVC6 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 23542032 http://www.ncbi.nlm.nih.gov/pubmed/23542032 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 RefSeq NP_076997 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_076997 SMR Q9BVC6 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9BVC6 STRING 9606.ENSP00000227525 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000227525&targetmode=cogs TCDB 1.A.74.1 http://www.tcdb.org/search/result.php?tc=1.A.74.1 UCSC uc001nqg http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001nqg&org=rat UniGene Hs.13662 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.13662 UniProtKB TM109_HUMAN http://www.uniprot.org/uniprot/TM109_HUMAN UniProtKB-AC Q9BVC6 http://www.uniprot.org/uniprot/Q9BVC6 charge swissprot:TM109_HUMAN http://rest.g-language.org/emboss/charge/swissprot:TM109_HUMAN eggNOG ENOG410IIBB http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IIBB eggNOG ENOG410XXDM http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XXDM epestfind swissprot:TM109_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:TM109_HUMAN garnier swissprot:TM109_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:TM109_HUMAN helixturnhelix swissprot:TM109_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:TM109_HUMAN hmoment swissprot:TM109_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:TM109_HUMAN iep swissprot:TM109_HUMAN http://rest.g-language.org/emboss/iep/swissprot:TM109_HUMAN inforesidue swissprot:TM109_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:TM109_HUMAN neXtProt NX_Q9BVC6 http://www.nextprot.org/db/entry/NX_Q9BVC6 octanol swissprot:TM109_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:TM109_HUMAN pepcoil swissprot:TM109_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:TM109_HUMAN pepdigest swissprot:TM109_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:TM109_HUMAN pepinfo swissprot:TM109_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:TM109_HUMAN pepnet swissprot:TM109_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:TM109_HUMAN pepstats swissprot:TM109_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:TM109_HUMAN pepwheel swissprot:TM109_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:TM109_HUMAN pepwindow swissprot:TM109_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:TM109_HUMAN sigcleave swissprot:TM109_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:TM109_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS PLP2_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q04941-1; Sequence=Displayed; Name=2; IsoId=Q04941-2; Sequence=VSP_041602; # AltName PLP2_HUMAN Differentiation-dependent protein A4 # AltName PLP2_HUMAN Intestinal membrane A4 protein # BioGrid 111369 27 # CCDS CCDS14319 -. [Q04941-1] # ChiTaRS PLP2 human # Ensembl ENST00000376322 ENSP00000365500; ENSG00000102007. [Q04941-2] # Ensembl ENST00000376327 ENSP00000365505; ENSG00000102007. [Q04941-1] # ExpressionAtlas Q04941 baseline and differential # FUNCTION PLP2_HUMAN May play a role in cell differentiation in the intestinal epithelium. # GO_component GO:0005783 endoplasmic reticulum; TAS:ProtInc. # GO_component GO:0005789 endoplasmic reticulum membrane; TAS:ProtInc. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0016020 membrane; TAS:ProtInc. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0015075 ion transmembrane transporter activity; TAS:ProtInc. # GO_function GO:0019956 chemokine binding; IPI:UniProtKB. # GO_process GO:0006811 ion transport; TAS:ProtInc. # GO_process GO:0006935 chemotaxis; NAS:UniProtKB. # GO_process GO:0019221 cytokine-mediated signaling pathway; NAS:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0040011 locomotion # Genevisible Q04941 HS # HGNC HGNC:9087 PLP2 # INTERACTION PLP2_HUMAN Q8N6L0 CCDC155; NbExp=3; IntAct=EBI-608347, EBI-749265; P32246 CCR1; NbExp=3; IntAct=EBI-608347, EBI-608322; Q9BSE2 TMEM79; NbExp=3; IntAct=EBI-608347, EBI-8649725; # IntAct Q04941 10 # InterPro IPR008253 Marvel # MIM 300112 gene # Organism PLP2_HUMAN Homo sapiens (Human) # PIR S32567 S32567 # PROSITE PS51225 MARVEL # Pfam PF01284 MARVEL # Proteomes UP000005640 Chromosome X # RecName PLP2_HUMAN Proteolipid protein 2 # RefSeq NP_002659 NM_002668.2. [Q04941-1] # SIMILARITY Contains 1 MARVEL domain. {ECO:0000255|PROSITE- ProRule PRU00581}. # SUBCELLULAR LOCATION PLP2_HUMAN Membrane; Multi-pass membrane protein. # TCDB 1.A.64.5 the plasmolipin (plasmolipin) family # TISSUE SPECIFICITY PLP2_HUMAN Enriched in colonic mucosa. The expression of A4 follows a gradient along the crypto-villus axis with the most abundant message occurring in the lower half of the crypt. # TopDownProteomics Q04941-1 -. [Q04941-1] # UCSC uc004dmx human. [Q04941-1] # eggNOG ENOG4111IAF LUCA # eggNOG KOG4788 Eukaryota BLAST swissprot:PLP2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:PLP2_HUMAN BioCyc ZFISH:ENSG00000102007-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000102007-MONOMER COXPRESdb 5355 http://coxpresdb.jp/data/gene/5355.shtml CleanEx HS_PLP2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_PLP2 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1006/abbi.1993.1197 http://dx.doi.org/10.1006/abbi.1993.1197 DOI 10.1006/geno.1997.4941 http://dx.doi.org/10.1006/geno.1997.4941 DOI 10.1038/nature03440 http://dx.doi.org/10.1038/nature03440 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1101/gr.4039406 http://dx.doi.org/10.1101/gr.4039406 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AF196779 http://www.ebi.ac.uk/ena/data/view/AF196779 EMBL BC109066 http://www.ebi.ac.uk/ena/data/view/BC109066 EMBL DB102321 http://www.ebi.ac.uk/ena/data/view/DB102321 EMBL L09604 http://www.ebi.ac.uk/ena/data/view/L09604 EMBL U93305 http://www.ebi.ac.uk/ena/data/view/U93305 Ensembl ENST00000376322 http://www.ensembl.org/id/ENST00000376322 Ensembl ENST00000376327 http://www.ensembl.org/id/ENST00000376327 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GO_component GO:0005789 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005789 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0015075 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015075 GO_function GO:0019956 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019956 GO_process GO:0006811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006811 GO_process GO:0006935 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006935 GO_process GO:0019221 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019221 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0040011 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0040011 GeneCards PLP2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=PLP2 GeneID 5355 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=5355 GeneTree ENSGT00530000063326 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000063326 HGNC HGNC:9087 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:9087 HOGENOM HOG000293179 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000293179&db=HOGENOM6 HOVERGEN HBG099247 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG099247&db=HOVERGEN HPA HPA042415 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA042415 InParanoid Q04941 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q04941 IntAct Q04941 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q04941* InterPro IPR008253 http://www.ebi.ac.uk/interpro/entry/IPR008253 Jabion 5355 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=5355 KEGG_Gene hsa:5355 http://www.genome.jp/dbget-bin/www_bget?hsa:5355 MIM 300112 http://www.ncbi.nlm.nih.gov/omim/300112 MINT MINT-1394473 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1394473 OMA IYMCDLH http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=IYMCDLH OrthoDB EOG091G0SSY http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0SSY PROSITE PS51225 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51225 PSORT swissprot:PLP2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:PLP2_HUMAN PSORT-B swissprot:PLP2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:PLP2_HUMAN PSORT2 swissprot:PLP2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:PLP2_HUMAN Pfam PF01284 http://pfam.xfam.org/family/PF01284 PharmGKB PA33415 http://www.pharmgkb.org/do/serve?objId=PA33415&objCls=Gene Phobius swissprot:PLP2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:PLP2_HUMAN PhylomeDB Q04941 http://phylomedb.org/?seqid=Q04941 ProteinModelPortal Q04941 http://www.proteinmodelportal.org/query/uniprot/Q04941 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15772651 http://www.ncbi.nlm.nih.gov/pubmed/15772651 PubMed 16344560 http://www.ncbi.nlm.nih.gov/pubmed/16344560 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 8470895 http://www.ncbi.nlm.nih.gov/pubmed/8470895 PubMed 9344658 http://www.ncbi.nlm.nih.gov/pubmed/9344658 RefSeq NP_002659 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_002659 STRING 9606.ENSP00000365505 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000365505&targetmode=cogs TCDB 1.A.64.5 http://www.tcdb.org/search/result.php?tc=1.A.64.5 UCSC uc004dmx http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc004dmx&org=rat UniGene Hs.77422 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.77422 UniProtKB PLP2_HUMAN http://www.uniprot.org/uniprot/PLP2_HUMAN UniProtKB-AC Q04941 http://www.uniprot.org/uniprot/Q04941 charge swissprot:PLP2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:PLP2_HUMAN eggNOG ENOG4111IAF http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111IAF eggNOG KOG4788 http://eggnogapi.embl.de/nog_data/html/tree/KOG4788 epestfind swissprot:PLP2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:PLP2_HUMAN garnier swissprot:PLP2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:PLP2_HUMAN helixturnhelix swissprot:PLP2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:PLP2_HUMAN hmoment swissprot:PLP2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:PLP2_HUMAN iep swissprot:PLP2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:PLP2_HUMAN inforesidue swissprot:PLP2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:PLP2_HUMAN neXtProt NX_Q04941 http://www.nextprot.org/db/entry/NX_Q04941 octanol swissprot:PLP2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:PLP2_HUMAN pepcoil swissprot:PLP2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:PLP2_HUMAN pepdigest swissprot:PLP2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:PLP2_HUMAN pepinfo swissprot:PLP2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:PLP2_HUMAN pepnet swissprot:PLP2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:PLP2_HUMAN pepstats swissprot:PLP2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:PLP2_HUMAN pepwheel swissprot:PLP2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:PLP2_HUMAN pepwindow swissprot:PLP2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:PLP2_HUMAN sigcleave swissprot:PLP2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:PLP2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NP58-1; Sequence=Displayed; Name=2; IsoId=Q9NP58-4; Sequence=VSP_021973; Note=Ref.4 (BAB71347) sequence differs from that shown due to splicing through aberrant splice sites. {ECO 0000305}; # AltName ABCB6_HUMAN Mitochondrial ABC transporter 3 # AltName ABCB6_HUMAN P-glycoprotein-related protein # AltName ABCB6_HUMAN Ubiquitously-expressed mammalian ABC half transporter # BioGrid 115369 19 # CCDS CCDS2436 -. [Q9NP58-1] # ChiTaRS ABCB6 human # DEVELOPMENTAL STAGE Highly expressed in fetal liver. {ECO:0000269|PubMed 17006453}. # DISEASE ABCB6_HUMAN Dyschromatosis universalis hereditaria 3 (DUH3) [MIM 615402] An autosomal dominant pigmentary genodermatosis characterized by a mixture of hyperpigmented and hypopigmented macules distributed randomly over the body, that appear in infancy or early childhood. The trunk and extremities are the dominant sites of abnormal pigmentation. Facial lesions can be seen in 50% of affected individuals, but involvement of palms and soles is unusual. Abnormalities of hair and nails have also been reported. Dyschromatosis universalis hereditaria may be associated with abnormalities of dermal connective tissue, nerve tissue, or other systemic complications. {ECO 0000269|PubMed 23519333, ECO 0000269|PubMed 24224009, ECO 0000269|PubMed 24498303, ECO 0000269|PubMed 25288164}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE ABCB6_HUMAN Microphthalmia, isolated, with coloboma, 7 (MCOPCB7) [MIM 614497] A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). {ECO 0000269|PubMed 22226084}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE ABCB6_HUMAN Pseudohyperkalemia, familial, 2, due to red cell leak (PSHK2) [MIM 609153] A dominantly inherited condition characterized by increased serum potassium levels, measured in whole-blood specimens stored at or below room temperature. This condition is not accompanied by clinical symptoms or biological signs except for borderline abnormalities of red cell shape. {ECO 0000269|PubMed 23180570, ECO 0000269|PubMed 24947683}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000265316 ENSP00000265316; ENSG00000115657. [Q9NP58-1] # ExpressionAtlas Q9NP58 baseline and differential # FUNCTION ABCB6_HUMAN Binds heme and porphyrins and functions in their ATP- dependent uptake into the mitochondria. Plays a crucial role in heme synthesis. {ECO 0000269|PubMed 10837493, ECO 0000269|PubMed 17006453}. # GO_component GO:0000139 Golgi membrane; IEA:UniProtKB-SubCell. # GO_component GO:0005739 mitochondrion; IDA:UniProtKB. # GO_component GO:0005740 mitochondrial envelope; IDA:MGI. # GO_component GO:0005741 mitochondrial outer membrane; IDA:UniProtKB. # GO_component GO:0005743 mitochondrial inner membrane; IBA:GO_Central. # GO_component GO:0005768 endosome; ISS:UniProtKB. # GO_component GO:0005783 endoplasmic reticulum; IDA:UniProtKB. # GO_component GO:0005789 endoplasmic reticulum membrane; IEA:UniProtKB-SubCell. # GO_component GO:0005794 Golgi apparatus; IDA:UniProtKB. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0010008 endosome membrane; IEA:UniProtKB-SubCell. # GO_component GO:0031307 integral component of mitochondrial outer membrane; IDA:UniProtKB. # GO_component GO:0043190 ATP-binding cassette (ABC) transporter complex; NAS:UniProtKB. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0005524 ATP binding; IDA:MGI. # GO_function GO:0015232 heme transporter activity; TAS:Reactome. # GO_function GO:0015439 heme-transporting ATPase activity; IMP:UniProtKB. # GO_function GO:0015562 efflux transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0020037 heme binding; IDA:UniProtKB. # GO_process GO:0006779 porphyrin-containing compound biosynthetic process; IDA:UniProtKB. # GO_process GO:0006810 transport; IDA:MGI. # GO_process GO:0006879 cellular iron ion homeostasis; NAS:UniProtKB. # GO_process GO:0007420 brain development; IMP:UniProtKB. # GO_process GO:0015886 heme transport; IDA:UniProtKB. # GO_process GO:0043588 skin development; IMP:UniProtKB. # GO_process GO:0055085 transmembrane transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005739 mitochondrion # GOslim_component GO:0005768 endosome # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_component GO:0005794 Golgi apparatus # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0051186 cofactor metabolic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 3.40.50.300 -; 1. # Genevisible Q9NP58 HS # HGNC HGNC:47 ABCB6 # INDUCTION ABCB6_HUMAN Up-regulated by cellular porphyrins (at protein level). Up-regulated during erythroid differentiation (at protein level). {ECO 0000269|PubMed 17006453, ECO 0000269|PubMed 23180570}. # IntAct Q9NP58 5 # InterPro IPR003439 ABC_transporter-like # InterPro IPR003593 AAA+_ATPase # InterPro IPR011527 ABC1_TM_dom # InterPro IPR017871 ABC_transporter_CS # InterPro IPR027417 P-loop_NTPase # InterPro IPR032410 MTABC_N # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02000 Transporters # KEGG_Pathway ko02010 ABC transporters # MIM 111600 phenotype # MIM 605452 gene # MIM 609153 phenotype # MIM 614497 phenotype # MIM 615402 phenotype # MISCELLANEOUS ABCB6_HUMAN Depletion of Abcb6 by RNAi abrogates heme biosynthesis. Overexpression enhances porphyrin biosynthesis. # Organism ABCB6_HUMAN Homo sapiens (Human) # Orphanet 194 Ocular coloboma # Orphanet 241 Dyschromatosis universalis # Orphanet 98938 Colobomatous microphthalmia # PDB 3NH6 X-ray; 2.00 A; A=558-842 # PDB 3NH9 X-ray; 2.10 A; A=558-842 # PDB 3NHA X-ray; 2.10 A; A=558-842 # PDB 3NHB X-ray; 2.15 A; A=558-842 # POLYMORPHISM Genetic variations in ABCB6 define the Langereis blood group system (LAN) [MIM:111600]. Individuals with Lan(-) blood group lack the Lan antigen on their red blood cells. These individuals may have anti-Lan antibodies in their serum, which can cause transfusion reactions or hemolytic disease of the fetus or newborn. The Lan(-) blood group is only clinically significant in transfusion settings or during pregnancy; otherwise Lan(-) individuals have no clinical features. {ECO 0000269|PubMed:22246506}. # PROSITE PS00211 ABC_TRANSPORTER_1 # PROSITE PS50893 ABC_TRANSPORTER_2 # PROSITE PS50929 ABC_TM1F # Pfam PF00005 ABC_tran # Pfam PF00664 ABC_membrane # Pfam PF16185 MTABC_N # Proteomes UP000005640 Chromosome 2 # Reactome R-HSA-1369007 Mitochondrial ABC transporters # RecName ABCB6_HUMAN ATP-binding cassette sub-family B member 6, mitochondrial # RefSeq NP_005680 NM_005689.2. [Q9NP58-1] # SEQUENCE CAUTION ABCB6_HUMAN Sequence=AAG33617.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO 0000305}; Sequence=AAG33618.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO 0000305}; Sequence=AAH43423.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO 0000305}; Sequence=BAD18782.1; Type=Erroneous termination; Positions=168; Note=Translated as Trp.; Evidence={ECO 0000305}; Sequence=BAD92291.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the ABC transporter superfamily. ABCB family. Heavy Metal importer (TC 3.A.1.210) subfamily. {ECO 0000305}. # SIMILARITY Contains 1 ABC transmembrane type-1 domain. {ECO:0000255|PROSITE-ProRule PRU00441}. # SIMILARITY Contains 1 ABC transporter domain. {ECO:0000255|PROSITE-ProRule PRU00434}. # SMART SM00382 AAA # SUBCELLULAR LOCATION ABCB6_HUMAN Cell membrane {ECO 0000269|PubMed 17661442, ECO 0000269|PubMed 23180570}; Multi-pass membrane protein {ECO 0000255}. Mitochondrion outer membrane {ECO 0000269|PubMed 17006453, ECO 0000269|PubMed 17661442, ECO 0000305|PubMed 10837493}; Multi-pass membrane protein {ECO 0000255}. Endoplasmic reticulum membrane {ECO 0000269|PubMed 18279659, ECO 0000269|PubMed 22226084}; Multi- pass membrane protein {ECO 0000255}. Golgi apparatus membrane {ECO 0000269|PubMed 18279659, ECO 0000269|PubMed 22226084}; Multi- pass membrane protein {ECO 0000255}. Endosome membrane {ECO 0000250|UniProtKB Q9DC29}; Multi-pass membrane protein {ECO 0000255}. Note=localized to the endosome-like compartement and dendrite tips. {ECO 0000250|UniProtKB Q9DC29}. # SUBUNIT ABCB6_HUMAN Homodimer. {ECO 0000269|PubMed 16791740, ECO 0000269|PubMed 17006453}. # SUPFAM SSF52540 SSF52540 # SUPFAM SSF90123 SSF90123 # TCDB 3.A.1.210 the atp-binding cassette (abc) superfamily # TISSUE SPECIFICITY ABCB6_HUMAN Widely expressed. High expression is detected in the retinal epithelium. {ECO 0000269|PubMed 10837493, ECO 0000269|PubMed 22226084}. # UCSC uc002vkc human. [Q9NP58-1] # WEB RESOURCE ABCB6_HUMAN Name=ABCMdb; Note=Database for mutations in ABC proteins; URL="http //abcmutations.hegelab.org/proteinDetails?uniprot_id=Q9NP58"; # eggNOG COG5265 LUCA # eggNOG KOG0057 Eukaryota BLAST swissprot:ABCB6_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ABCB6_HUMAN BioCyc ZFISH:HS03923-MONOMER http://biocyc.org/getid?id=ZFISH:HS03923-MONOMER COXPRESdb 10058 http://coxpresdb.jp/data/gene/10058.shtml CleanEx HS_ABCB6 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ABCB6 DOI 10.1002/ajh.23357 http://dx.doi.org/10.1002/ajh.23357 DOI 10.1007/s10858-006-9000-6 http://dx.doi.org/10.1007/s10858-006-9000-6 DOI 10.1016/S0167-4781(01)00340-2 http://dx.doi.org/10.1016/S0167-4781(01)00340-2 DOI 10.1016/j.ajhg.2011.11.026 http://dx.doi.org/10.1016/j.ajhg.2011.11.026 DOI 10.1016/j.bbrc.2008.02.027 http://dx.doi.org/10.1016/j.bbrc.2008.02.027 DOI 10.1016/j.jdermsci.2014.08.015 http://dx.doi.org/10.1016/j.jdermsci.2014.08.015 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/bi700015m http://dx.doi.org/10.1021/bi700015m DOI 10.1038/jid.2013.145 http://dx.doi.org/10.1038/jid.2013.145 DOI 10.1038/nature05125 http://dx.doi.org/10.1038/nature05125 DOI 10.1038/ng.1069 http://dx.doi.org/10.1038/ng.1069 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.275.23.17536 http://dx.doi.org/10.1074/jbc.275.23.17536 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1107/S0907444910028593 http://dx.doi.org/10.1107/S0907444910028593 DOI 10.1111/trf.12757 http://dx.doi.org/10.1111/trf.12757 DOI 10.1126/science.1133427 http://dx.doi.org/10.1126/science.1133427 DOI 10.1371/journal.pone.0079808 http://dx.doi.org/10.1371/journal.pone.0079808 DOI 10.1371/journal.pone.0087250 http://dx.doi.org/10.1371/journal.pone.0087250 EMBL AB039371 http://www.ebi.ac.uk/ena/data/view/AB039371 EMBL AB209054 http://www.ebi.ac.uk/ena/data/view/AB209054 EMBL AF070598 http://www.ebi.ac.uk/ena/data/view/AF070598 EMBL AF076775 http://www.ebi.ac.uk/ena/data/view/AF076775 EMBL AF308472 http://www.ebi.ac.uk/ena/data/view/AF308472 EMBL AF308473 http://www.ebi.ac.uk/ena/data/view/AF308473 EMBL AJ289233 http://www.ebi.ac.uk/ena/data/view/AJ289233 EMBL AK057026 http://www.ebi.ac.uk/ena/data/view/AK057026 EMBL AK172812 http://www.ebi.ac.uk/ena/data/view/AK172812 EMBL BC000559 http://www.ebi.ac.uk/ena/data/view/BC000559 EMBL BC043423 http://www.ebi.ac.uk/ena/data/view/BC043423 Ensembl ENST00000265316 http://www.ensembl.org/id/ENST00000265316 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000139 GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005740 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005740 GO_component GO:0005741 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005741 GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GO_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GO_component GO:0005789 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005789 GO_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0010008 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010008 GO_component GO:0031307 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031307 GO_component GO:0043190 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043190 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0015232 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015232 GO_function GO:0015439 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015439 GO_function GO:0015562 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015562 GO_function GO:0020037 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0020037 GO_process GO:0006779 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006779 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0006879 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006879 GO_process GO:0007420 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007420 GO_process GO:0015886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015886 GO_process GO:0043588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043588 GO_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0051186 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051186 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 3.40.50.300 http://www.cathdb.info/version/latest/superfamily/3.40.50.300 GeneCards ABCB6 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ABCB6 GeneID 10058 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=10058 GeneTree ENSGT00440000033373 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00440000033373 HGNC HGNC:47 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:47 HOVERGEN HBG080810 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG080810&db=HOVERGEN HPA HPA046723 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA046723 InParanoid Q9NP58 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9NP58 IntAct Q9NP58 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9NP58* InterPro IPR003439 http://www.ebi.ac.uk/interpro/entry/IPR003439 InterPro IPR003593 http://www.ebi.ac.uk/interpro/entry/IPR003593 InterPro IPR011527 http://www.ebi.ac.uk/interpro/entry/IPR011527 InterPro IPR017871 http://www.ebi.ac.uk/interpro/entry/IPR017871 InterPro IPR027417 http://www.ebi.ac.uk/interpro/entry/IPR027417 InterPro IPR032410 http://www.ebi.ac.uk/interpro/entry/IPR032410 Jabion 10058 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=10058 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Gene hsa:10058 http://www.genome.jp/dbget-bin/www_bget?hsa:10058 KEGG_Orthology KO:K05661 http://www.genome.jp/dbget-bin/www_bget?KO:K05661 KEGG_Pathway ko02010 http://www.genome.jp/kegg-bin/show_pathway?ko02010 MIM 111600 http://www.ncbi.nlm.nih.gov/omim/111600 MIM 605452 http://www.ncbi.nlm.nih.gov/omim/605452 MIM 609153 http://www.ncbi.nlm.nih.gov/omim/609153 MIM 614497 http://www.ncbi.nlm.nih.gov/omim/614497 MIM 615402 http://www.ncbi.nlm.nih.gov/omim/615402 MINT MINT-3071268 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-3071268 OMA RISPYVL http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=RISPYVL Orphanet 194 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=194 Orphanet 241 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=241 Orphanet 98938 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=98938 OrthoDB EOG091G02G4 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G02G4 PDB 3NH6 http://www.ebi.ac.uk/pdbe-srv/view/entry/3NH6 PDB 3NH9 http://www.ebi.ac.uk/pdbe-srv/view/entry/3NH9 PDB 3NHA http://www.ebi.ac.uk/pdbe-srv/view/entry/3NHA PDB 3NHB http://www.ebi.ac.uk/pdbe-srv/view/entry/3NHB PDBsum 3NH6 http://www.ebi.ac.uk/pdbsum/3NH6 PDBsum 3NH9 http://www.ebi.ac.uk/pdbsum/3NH9 PDBsum 3NHA http://www.ebi.ac.uk/pdbsum/3NHA PDBsum 3NHB http://www.ebi.ac.uk/pdbsum/3NHB PROSITE PS00211 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00211 PROSITE PS50893 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50893 PROSITE PS50929 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50929 PSORT swissprot:ABCB6_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ABCB6_HUMAN PSORT-B swissprot:ABCB6_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ABCB6_HUMAN PSORT2 swissprot:ABCB6_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ABCB6_HUMAN Pfam PF00005 http://pfam.xfam.org/family/PF00005 Pfam PF00664 http://pfam.xfam.org/family/PF00664 Pfam PF16185 http://pfam.xfam.org/family/PF16185 PharmGKB PA24388 http://www.pharmgkb.org/do/serve?objId=PA24388&objCls=Gene Phobius swissprot:ABCB6_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ABCB6_HUMAN PhylomeDB Q9NP58 http://phylomedb.org/?seqid=Q9NP58 ProteinModelPortal Q9NP58 http://www.proteinmodelportal.org/query/uniprot/Q9NP58 PubMed 10837493 http://www.ncbi.nlm.nih.gov/pubmed/10837493 PubMed 11955620 http://www.ncbi.nlm.nih.gov/pubmed/11955620 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16791740 http://www.ncbi.nlm.nih.gov/pubmed/16791740 PubMed 16959974 http://www.ncbi.nlm.nih.gov/pubmed/16959974 PubMed 17006453 http://www.ncbi.nlm.nih.gov/pubmed/17006453 PubMed 17661442 http://www.ncbi.nlm.nih.gov/pubmed/17661442 PubMed 18279659 http://www.ncbi.nlm.nih.gov/pubmed/18279659 PubMed 20823549 http://www.ncbi.nlm.nih.gov/pubmed/20823549 PubMed 22226084 http://www.ncbi.nlm.nih.gov/pubmed/22226084 PubMed 22246506 http://www.ncbi.nlm.nih.gov/pubmed/22246506 PubMed 23180570 http://www.ncbi.nlm.nih.gov/pubmed/23180570 PubMed 23519333 http://www.ncbi.nlm.nih.gov/pubmed/23519333 PubMed 24224009 http://www.ncbi.nlm.nih.gov/pubmed/24224009 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 24498303 http://www.ncbi.nlm.nih.gov/pubmed/24498303 PubMed 24947683 http://www.ncbi.nlm.nih.gov/pubmed/24947683 PubMed 25288164 http://www.ncbi.nlm.nih.gov/pubmed/25288164 Reactome R-HSA-1369007 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1369007 RefSeq NP_005680 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_005680 SMART SM00382 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00382 SMR Q9NP58 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9NP58 STRING 9606.ENSP00000265316 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000265316&targetmode=cogs SUPFAM SSF52540 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52540 SUPFAM SSF90123 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF90123 TCDB 3.A.1.210 http://www.tcdb.org/search/result.php?tc=3.A.1.210 UCSC uc002vkc http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002vkc&org=rat UniGene Hs.107911 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.107911 UniProtKB ABCB6_HUMAN http://www.uniprot.org/uniprot/ABCB6_HUMAN UniProtKB-AC Q9NP58 http://www.uniprot.org/uniprot/Q9NP58 charge swissprot:ABCB6_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ABCB6_HUMAN eggNOG COG5265 http://eggnogapi.embl.de/nog_data/html/tree/COG5265 eggNOG KOG0057 http://eggnogapi.embl.de/nog_data/html/tree/KOG0057 epestfind swissprot:ABCB6_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ABCB6_HUMAN garnier swissprot:ABCB6_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ABCB6_HUMAN helixturnhelix swissprot:ABCB6_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ABCB6_HUMAN hmoment swissprot:ABCB6_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ABCB6_HUMAN iep swissprot:ABCB6_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ABCB6_HUMAN inforesidue swissprot:ABCB6_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ABCB6_HUMAN neXtProt NX_Q9NP58 http://www.nextprot.org/db/entry/NX_Q9NP58 octanol swissprot:ABCB6_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ABCB6_HUMAN pepcoil swissprot:ABCB6_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ABCB6_HUMAN pepdigest swissprot:ABCB6_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ABCB6_HUMAN pepinfo swissprot:ABCB6_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ABCB6_HUMAN pepnet swissprot:ABCB6_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ABCB6_HUMAN pepstats swissprot:ABCB6_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ABCB6_HUMAN pepwheel swissprot:ABCB6_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ABCB6_HUMAN pepwindow swissprot:ABCB6_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ABCB6_HUMAN sigcleave swissprot:ABCB6_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ABCB6_HUMAN ## Database ID URL or Descriptions # AltName LRC8D_HUMAN Leucine-rich repeat-containing protein 5 # AltName LRC8D_HUMAN Leucine-rich repeat-containing protein 8D # BioGrid 120447 5 # ChiTaRS LRRC8D human # Ensembl ENST00000337338 ENSP00000338887; ENSG00000171492 # Ensembl ENST00000394593 ENSP00000378093; ENSG00000171492 # ExpressionAtlas Q7L1W4 baseline and differential # FUNCTION LRC8D_HUMAN Non-essential component of the volume-regulated anion channel (VRAC, also named VSOAC channel), an anion channel required to maintain a constant cell volume in response to extracellular or intracellular osmotic changes. The VRAC channel conducts iodide better than chloride and may also conduct organic osmolytes like taurine. Channel activity requires LRRC8A plus at least one other family member (LRRC8B, LRRC8C, LRRC8D or LRRC8E); channel characteristics depend on the precise subunit composition (PubMed 24790029, PubMed 26824658). LRRC8A and LRRC8D are required for the uptake of the drug cisplatin (PubMed 26530471). Mediates the import of the antibiotic blasticidin-S into the cell (PubMed 24782309). {ECO 0000269|PubMed 24782309, ECO 0000269|PubMed 24790029, ECO 0000269|PubMed 26530471, ECO 0000269|PubMed 26824658}. # GO_component GO:0005737 cytoplasm; IDA:UniProtKB. # GO_component GO:0005789 endoplasmic reticulum membrane; IEA:UniProtKB-SubCell. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0005887 integral component of plasma membrane; IMP:UniProtKB. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_function GO:0005225 volume-sensitive anion channel activity; IMP:UniProtKB. # GO_process GO:0098656 anion transmembrane transport; IMP:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0055085 transmembrane transport # Gene3D 3.80.10.10 -; 2. # Genevisible Q7L1W4 HS # HGNC HGNC:16992 LRRC8D # InterPro IPR001611 Leu-rich_rpt # InterPro IPR003591 Leu-rich_rpt_typical-subtyp # InterPro IPR021040 LRRC8_Pannexin-like # InterPro IPR032675 L_dom-like # KEGG_Disease H00085 [Primary immunodeficiency] Leucine-rich repeat-containing 8 # MIM 612890 gene # Organism LRC8D_HUMAN Homo sapiens (Human) # PROSITE PS51450 LRR; 9 # Pfam PF12534 Pannexin_like # Pfam PF13855 LRR_8; 2 # Proteomes UP000005640 Chromosome 1 # RecName LRC8D_HUMAN Volume-regulated anion channel subunit LRRC8D # RefSeq NP_001127951 NM_001134479.1 # RefSeq NP_060573 NM_018103.4 # RefSeq XP_011539991 XM_011541689.1 # RefSeq XP_016857088 XM_017001599.1 # RefSeq XP_016857089 XM_017001600.1 # RefSeq XP_016857090 XM_017001601.1 # RefSeq XP_016857091 XM_017001602.1 # SEQUENCE CAUTION Sequence=AAQ89233.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA91631.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the LRRC8 family. {ECO 0000305}. # SIMILARITY Contains 13 LRR (leucine-rich) repeats. {ECO 0000305}. # SMART SM00369 LRR_TYP; 7 # SUBCELLULAR LOCATION LRC8D_HUMAN Cell membrane {ECO 0000269|PubMed 24782309, ECO 0000269|PubMed 24790029}; Multi-pass membrane protein {ECO 0000305}. Endoplasmic reticulum membrane {ECO 0000269|PubMed 24782309, ECO 0000305|PubMed 24790029}. Note=In the absence of LRRC8A, resides primarily in a cytoplasmic compartment, probably the endoplasmic reticulum (PubMed 24782309, PubMed 24790029). Requires LRRC8A for expression at the cell membrane (PubMed 24790029). {ECO 0000269|PubMed 24782309, ECO 0000269|PubMed 24790029}. # SUBUNIT LRC8D_HUMAN Heterooligomer; heterooligomerizes with other LRRC8 proteins (LRRC8A, LRRC8B, LRRC8C and/or LRRC8E), possibly to form a heterohexamer (PubMed 24790029, PubMed 26824658). In vivo, the subunit composition may depend primarily on expression levels, and heterooligomeric channels containing various proportions of the different LRRC8 proteins may coexist (Probable). {ECO 0000269|PubMed 24790029, ECO 0000269|PubMed 26824658, ECO 0000305}. # SUPFAM SSF52058 SSF52058 # TCDB 1.A.25.3 the gap junction-forming innexin (innexin) family # UCSC uc001dnm human # eggNOG COG4886 LUCA # eggNOG KOG0619 Eukaryota BLAST swissprot:LRC8D_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:LRC8D_HUMAN COXPRESdb 55144 http://coxpresdb.jp/data/gene/55144.shtml CleanEx HS_LRRC8D http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_LRRC8D DIP DIP-31280N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-31280N DOI 10.1002/bies.201100173 http://dx.doi.org/10.1002/bies.201100173 DOI 10.1016/j.cell.2015.12.031 http://dx.doi.org/10.1016/j.cell.2015.12.031 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1074/jbc.M114.571257 http://dx.doi.org/10.1074/jbc.M114.571257 DOI 10.1101/gr.1293003 http://dx.doi.org/10.1101/gr.1293003 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1252826 http://dx.doi.org/10.1126/science.1252826 DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 DOI 10.15252/embj.201592409 http://dx.doi.org/10.15252/embj.201592409 EMBL AK001332 http://www.ebi.ac.uk/ena/data/view/AK001332 EMBL AL391497 http://www.ebi.ac.uk/ena/data/view/AL391497 EMBL AY358874 http://www.ebi.ac.uk/ena/data/view/AY358874 EMBL BC024159 http://www.ebi.ac.uk/ena/data/view/BC024159 EMBL CH471097 http://www.ebi.ac.uk/ena/data/view/CH471097 EMBL CH471097 http://www.ebi.ac.uk/ena/data/view/CH471097 EMBL CH471097 http://www.ebi.ac.uk/ena/data/view/CH471097 Ensembl ENST00000337338 http://www.ensembl.org/id/ENST00000337338 Ensembl ENST00000394593 http://www.ensembl.org/id/ENST00000394593 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005789 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005789 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_function GO:0005225 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005225 GO_process GO:0098656 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0098656 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 3.80.10.10 http://www.cathdb.info/version/latest/superfamily/3.80.10.10 GeneCards LRRC8D http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=LRRC8D GeneID 55144 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=55144 GeneTree ENSGT00840000129676 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00840000129676 HGNC HGNC:16992 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:16992 HOGENOM HOG000231806 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231806&db=HOGENOM6 HOVERGEN HBG052360 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052360&db=HOVERGEN HPA HPA014745 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA014745 InParanoid Q7L1W4 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q7L1W4 IntAct Q7L1W4 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q7L1W4* InterPro IPR001611 http://www.ebi.ac.uk/interpro/entry/IPR001611 InterPro IPR003591 http://www.ebi.ac.uk/interpro/entry/IPR003591 InterPro IPR021040 http://www.ebi.ac.uk/interpro/entry/IPR021040 InterPro IPR032675 http://www.ebi.ac.uk/interpro/entry/IPR032675 Jabion 55144 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=55144 KEGG_Disease H00085 http://www.genome.jp/dbget-bin/www_bget?H00085 KEGG_Gene hsa:55144 http://www.genome.jp/dbget-bin/www_bget?hsa:55144 MIM 612890 http://www.ncbi.nlm.nih.gov/omim/612890 MINT MINT-4995188 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-4995188 OMA QLFKCVK http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=QLFKCVK OrthoDB EOG091G01ER http://cegg.unige.ch/orthodb/results?searchtext=EOG091G01ER PROSITE PS51450 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51450 PSORT swissprot:LRC8D_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:LRC8D_HUMAN PSORT-B swissprot:LRC8D_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:LRC8D_HUMAN PSORT2 swissprot:LRC8D_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:LRC8D_HUMAN Pfam PF12534 http://pfam.xfam.org/family/PF12534 Pfam PF13855 http://pfam.xfam.org/family/PF13855 PharmGKB PA30464 http://www.pharmgkb.org/do/serve?objId=PA30464&objCls=Gene Phobius swissprot:LRC8D_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:LRC8D_HUMAN PhylomeDB Q7L1W4 http://phylomedb.org/?seqid=Q7L1W4 ProteinModelPortal Q7L1W4 http://www.proteinmodelportal.org/query/uniprot/Q7L1W4 PubMed 12975309 http://www.ncbi.nlm.nih.gov/pubmed/12975309 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 22532330 http://www.ncbi.nlm.nih.gov/pubmed/22532330 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 24782309 http://www.ncbi.nlm.nih.gov/pubmed/24782309 PubMed 24790029 http://www.ncbi.nlm.nih.gov/pubmed/24790029 PubMed 26530471 http://www.ncbi.nlm.nih.gov/pubmed/26530471 PubMed 26824658 http://www.ncbi.nlm.nih.gov/pubmed/26824658 RefSeq NP_001127951 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001127951 RefSeq NP_060573 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_060573 RefSeq XP_011539991 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011539991 RefSeq XP_016857088 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016857088 RefSeq XP_016857089 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016857089 RefSeq XP_016857090 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016857090 RefSeq XP_016857091 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016857091 SMART SM00369 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00369 STRING 9606.ENSP00000338887 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000338887&targetmode=cogs SUPFAM SSF52058 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52058 TCDB 1.A.25.3 http://www.tcdb.org/search/result.php?tc=1.A.25.3 UCSC uc001dnm http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001dnm&org=rat UniGene Hs.482087 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.482087 UniProtKB LRC8D_HUMAN http://www.uniprot.org/uniprot/LRC8D_HUMAN UniProtKB-AC Q7L1W4 http://www.uniprot.org/uniprot/Q7L1W4 charge swissprot:LRC8D_HUMAN http://rest.g-language.org/emboss/charge/swissprot:LRC8D_HUMAN eggNOG COG4886 http://eggnogapi.embl.de/nog_data/html/tree/COG4886 eggNOG KOG0619 http://eggnogapi.embl.de/nog_data/html/tree/KOG0619 epestfind swissprot:LRC8D_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:LRC8D_HUMAN garnier swissprot:LRC8D_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:LRC8D_HUMAN helixturnhelix swissprot:LRC8D_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:LRC8D_HUMAN hmoment swissprot:LRC8D_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:LRC8D_HUMAN iep swissprot:LRC8D_HUMAN http://rest.g-language.org/emboss/iep/swissprot:LRC8D_HUMAN inforesidue swissprot:LRC8D_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:LRC8D_HUMAN neXtProt NX_Q7L1W4 http://www.nextprot.org/db/entry/NX_Q7L1W4 octanol swissprot:LRC8D_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:LRC8D_HUMAN pepcoil swissprot:LRC8D_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:LRC8D_HUMAN pepdigest swissprot:LRC8D_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:LRC8D_HUMAN pepinfo swissprot:LRC8D_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:LRC8D_HUMAN pepnet swissprot:LRC8D_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:LRC8D_HUMAN pepstats swissprot:LRC8D_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:LRC8D_HUMAN pepwheel swissprot:LRC8D_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:LRC8D_HUMAN pepwindow swissprot:LRC8D_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:LRC8D_HUMAN sigcleave swissprot:LRC8D_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:LRC8D_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS ABCB7_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=O75027-1; Sequence=Displayed; Name=2; IsoId=O75027-2; Sequence=VSP_014635; Name=3; IsoId=O75027-3; Sequence=VSP_054700; Note=No experimental confirmation available. Gene prediction based on EST data.; # AltName ABCB7_HUMAN ATP-binding cassette transporter 7 # BioGrid 106540 27 # CCDS CCDS14428 -. [O75027-2] # CCDS CCDS65290 -. [O75027-3] # CCDS CCDS65291 -. [O75027-1] # ChiTaRS ABCB7 human # DISEASE ABCB7_HUMAN Anemia, sideroblastic, spinocerebellar ataxia (ASAT) [MIM 301310] A X-linked recessive disorder characterized by an infantile to early childhood onset of non-progressive cerebellar ataxia and mild anemia, with hypochromia and microcytosis. {ECO 0000269|PubMed 10196363, ECO 0000269|PubMed 11050011, ECO 0000269|PubMed 11843825, ECO 0000269|PubMed 22398176}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000253577 ENSP00000253577; ENSG00000131269. [O75027-2] # Ensembl ENST00000339447 ENSP00000343849; ENSG00000131269. [O75027-3] # Ensembl ENST00000373394 ENSP00000362492; ENSG00000131269. [O75027-1] # ExpressionAtlas O75027 baseline and differential # FUNCTION ABCB7_HUMAN Could be involved in the transport of heme from the mitochondria to the cytosol. Plays a central role in the maturation of cytosolic iron-sulfur (Fe/S) cluster-containing proteins. # GO_component GO:0005739 mitochondrion; IDA:HPA. # GO_component GO:0005743 mitochondrial inner membrane; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; IBA:GO_Central. # GO_function GO:0005524 ATP binding; TAS:ProtInc. # GO_function GO:0015232 heme transporter activity; TAS:Reactome. # GO_function GO:0042626 ATPase activity, coupled to transmembrane movement of substances; TAS:ProtInc. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0006879 cellular iron ion homeostasis; IBA:GO_Central. # GO_process GO:0055085 transmembrane transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005739 mitochondrion # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 3.40.50.300 -; 1. # Genevisible O75027 HS # HGNC HGNC:48 ABCB7 # IntAct O75027 5 # InterPro IPR003439 ABC_transporter-like # InterPro IPR003593 AAA+_ATPase # InterPro IPR011527 ABC1_TM_dom # InterPro IPR017871 ABC_transporter_CS # InterPro IPR027417 P-loop_NTPase # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02000 Transporters # KEGG_Disease H00982 [Hematologic disease] X-linked sideroblastic anemia with ataxia (ASAT) # KEGG_Pathway ko02010 ABC transporters # MIM 300135 gene # MIM 301310 phenotype # Organism ABCB7_HUMAN Homo sapiens (Human) # Orphanet 2802 X-linked sideroblastic anemia with ataxia # PROSITE PS00211 ABC_TRANSPORTER_1 # PROSITE PS50893 ABC_TRANSPORTER_2 # PROSITE PS50929 ABC_TM1F # Pfam PF00005 ABC_tran # Pfam PF00664 ABC_membrane # Proteomes UP000005640 Chromosome X # Reactome R-HSA-1369007 Mitochondrial ABC transporters # Reactome R-HSA-2564830 Cytosolic iron-sulfur cluster assembly # RecName ABCB7_HUMAN ATP-binding cassette sub-family B member 7, mitochondrial # RefSeq NP_001258625 NM_001271696.1. [O75027-1] # RefSeq NP_001258626 NM_001271697.1. [O75027-3] # RefSeq NP_001258627 NM_001271698.1 # RefSeq NP_004290 NM_004299.4. [O75027-2] # SIMILARITY Belongs to the ABC transporter superfamily. ABCB family. Heavy Metal importer (TC 3.A.1.210) subfamily. {ECO 0000305}. # SIMILARITY Contains 1 ABC transmembrane type-1 domain. {ECO:0000255|PROSITE-ProRule PRU00441}. # SIMILARITY Contains 1 ABC transporter domain. {ECO:0000255|PROSITE-ProRule PRU00434}. # SMART SM00382 AAA # SUBCELLULAR LOCATION ABCB7_HUMAN Mitochondrion inner membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000255|PROSITE- ProRule PRU00441}. # SUBUNIT Homodimer or heterodimer. {ECO 0000305}. # SUPFAM SSF52540 SSF52540 # SUPFAM SSF90123 SSF90123 # TCDB 3.A.1.210 the atp-binding cassette (abc) superfamily # UCSC uc004ebz human. [O75027-1] # WEB RESOURCE ABCB7_HUMAN Name=ABCMdb; Note=Database for mutations in ABC proteins; URL="http //abcmutations.hegelab.org/proteinDetails?uniprot_id=O75027"; # eggNOG COG5265 LUCA # eggNOG KOG0057 Eukaryota BLAST swissprot:ABCB7_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ABCB7_HUMAN BioCyc ZFISH:HS05510-MONOMER http://biocyc.org/getid?id=ZFISH:HS05510-MONOMER COXPRESdb 22 http://coxpresdb.jp/data/gene/22.shtml CleanEx HS_ABCB7 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ABCB7 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1007/s100380050051 http://dx.doi.org/10.1007/s100380050051 DOI 10.1016/S0014-5793(98)01560-9 http://dx.doi.org/10.1016/S0014-5793(98)01560-9 DOI 10.1016/j.ejpn.2012.02.003 http://dx.doi.org/10.1016/j.ejpn.2012.02.003 DOI 10.1038/nature03440 http://dx.doi.org/10.1038/nature03440 DOI 10.1046/j.1365-2141.2001.03015.x http://dx.doi.org/10.1046/j.1365-2141.2001.03015.x DOI 10.1073/pnas.95.14.8175 http://dx.doi.org/10.1073/pnas.95.14.8175 DOI 10.1093/hmg/8.5.743 http://dx.doi.org/10.1093/hmg/8.5.743 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1175371 http://dx.doi.org/10.1126/science.1175371 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AB005289 http://www.ebi.ac.uk/ena/data/view/AB005289 EMBL AF038950 http://www.ebi.ac.uk/ena/data/view/AF038950 EMBL AF078777 http://www.ebi.ac.uk/ena/data/view/AF078777 EMBL AF133659 http://www.ebi.ac.uk/ena/data/view/AF133659 EMBL AF241872 http://www.ebi.ac.uk/ena/data/view/AF241872 EMBL AF241873 http://www.ebi.ac.uk/ena/data/view/AF241873 EMBL AF241874 http://www.ebi.ac.uk/ena/data/view/AF241874 EMBL AF241875 http://www.ebi.ac.uk/ena/data/view/AF241875 EMBL AF241876 http://www.ebi.ac.uk/ena/data/view/AF241876 EMBL AF241877 http://www.ebi.ac.uk/ena/data/view/AF241877 EMBL AF241878 http://www.ebi.ac.uk/ena/data/view/AF241878 EMBL AF241879 http://www.ebi.ac.uk/ena/data/view/AF241879 EMBL AF241880 http://www.ebi.ac.uk/ena/data/view/AF241880 EMBL AF241881 http://www.ebi.ac.uk/ena/data/view/AF241881 EMBL AF241882 http://www.ebi.ac.uk/ena/data/view/AF241882 EMBL AF241883 http://www.ebi.ac.uk/ena/data/view/AF241883 EMBL AF241884 http://www.ebi.ac.uk/ena/data/view/AF241884 EMBL AF241885 http://www.ebi.ac.uk/ena/data/view/AF241885 EMBL AF241886 http://www.ebi.ac.uk/ena/data/view/AF241886 EMBL AF241887 http://www.ebi.ac.uk/ena/data/view/AF241887 EMBL AL359545 http://www.ebi.ac.uk/ena/data/view/AL359545 EMBL AL359545 http://www.ebi.ac.uk/ena/data/view/AL359545 EMBL AL359545 http://www.ebi.ac.uk/ena/data/view/AL359545 EMBL AL359545 http://www.ebi.ac.uk/ena/data/view/AL359545 EMBL AL360179 http://www.ebi.ac.uk/ena/data/view/AL360179 EMBL AL360179 http://www.ebi.ac.uk/ena/data/view/AL360179 EMBL AL360179 http://www.ebi.ac.uk/ena/data/view/AL360179 EMBL AL360179 http://www.ebi.ac.uk/ena/data/view/AL360179 EMBL BC006323 http://www.ebi.ac.uk/ena/data/view/BC006323 EMBL BT009918 http://www.ebi.ac.uk/ena/data/view/BT009918 EMBL CH471104 http://www.ebi.ac.uk/ena/data/view/CH471104 Ensembl ENST00000253577 http://www.ensembl.org/id/ENST00000253577 Ensembl ENST00000339447 http://www.ensembl.org/id/ENST00000339447 Ensembl ENST00000373394 http://www.ensembl.org/id/ENST00000373394 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0015232 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015232 GO_function GO:0042626 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042626 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0006879 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006879 GO_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 3.40.50.300 http://www.cathdb.info/version/latest/superfamily/3.40.50.300 GeneCards ABCB7 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ABCB7 GeneID 22 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=22 GeneTree ENSGT00440000033373 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00440000033373 H-InvDB HIX0028475 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0028475 HGNC HGNC:48 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:48 HOVERGEN HBG080194 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG080194&db=HOVERGEN HPA HPA034982 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA034982 InParanoid O75027 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O75027 IntAct O75027 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O75027* InterPro IPR003439 http://www.ebi.ac.uk/interpro/entry/IPR003439 InterPro IPR003593 http://www.ebi.ac.uk/interpro/entry/IPR003593 InterPro IPR011527 http://www.ebi.ac.uk/interpro/entry/IPR011527 InterPro IPR017871 http://www.ebi.ac.uk/interpro/entry/IPR017871 InterPro IPR027417 http://www.ebi.ac.uk/interpro/entry/IPR027417 Jabion 22 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=22 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Disease H00982 http://www.genome.jp/dbget-bin/www_bget?H00982 KEGG_Gene hsa:22 http://www.genome.jp/dbget-bin/www_bget?hsa:22 KEGG_Orthology KO:K05662 http://www.genome.jp/dbget-bin/www_bget?KO:K05662 KEGG_Pathway ko02010 http://www.genome.jp/kegg-bin/show_pathway?ko02010 MIM 300135 http://www.ncbi.nlm.nih.gov/omim/300135 MIM 301310 http://www.ncbi.nlm.nih.gov/omim/301310 OMA MMYLAAN http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=MMYLAAN Orphanet 2802 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=2802 OrthoDB EOG091G02G4 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G02G4 PROSITE PS00211 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00211 PROSITE PS50893 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50893 PROSITE PS50929 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50929 PSORT swissprot:ABCB7_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ABCB7_HUMAN PSORT-B swissprot:ABCB7_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ABCB7_HUMAN PSORT2 swissprot:ABCB7_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ABCB7_HUMAN Pfam PF00005 http://pfam.xfam.org/family/PF00005 Pfam PF00664 http://pfam.xfam.org/family/PF00664 PharmGKB PA24389 http://www.pharmgkb.org/do/serve?objId=PA24389&objCls=Gene Phobius swissprot:ABCB7_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ABCB7_HUMAN PhylomeDB O75027 http://phylomedb.org/?seqid=O75027 ProteinModelPortal O75027 http://www.proteinmodelportal.org/query/uniprot/O75027 PubMed 10196363 http://www.ncbi.nlm.nih.gov/pubmed/10196363 PubMed 11050011 http://www.ncbi.nlm.nih.gov/pubmed/11050011 PubMed 11843825 http://www.ncbi.nlm.nih.gov/pubmed/11843825 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15772651 http://www.ncbi.nlm.nih.gov/pubmed/15772651 PubMed 19608861 http://www.ncbi.nlm.nih.gov/pubmed/19608861 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 22398176 http://www.ncbi.nlm.nih.gov/pubmed/22398176 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 9621516 http://www.ncbi.nlm.nih.gov/pubmed/9621516 PubMed 9653160 http://www.ncbi.nlm.nih.gov/pubmed/9653160 PubMed 9883897 http://www.ncbi.nlm.nih.gov/pubmed/9883897 Reactome R-HSA-1369007 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1369007 Reactome R-HSA-2564830 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2564830 RefSeq NP_001258625 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001258625 RefSeq NP_001258626 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001258626 RefSeq NP_001258627 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001258627 RefSeq NP_004290 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004290 SMART SM00382 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00382 SMR O75027 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=O75027 STRING 9606.ENSP00000253577 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000253577&targetmode=cogs SUPFAM SSF52540 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52540 SUPFAM SSF90123 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF90123 TCDB 3.A.1.210 http://www.tcdb.org/search/result.php?tc=3.A.1.210 UCSC uc004ebz http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc004ebz&org=rat UniGene Hs.370480 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.370480 UniProtKB ABCB7_HUMAN http://www.uniprot.org/uniprot/ABCB7_HUMAN UniProtKB-AC O75027 http://www.uniprot.org/uniprot/O75027 charge swissprot:ABCB7_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ABCB7_HUMAN eggNOG COG5265 http://eggnogapi.embl.de/nog_data/html/tree/COG5265 eggNOG KOG0057 http://eggnogapi.embl.de/nog_data/html/tree/KOG0057 epestfind swissprot:ABCB7_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ABCB7_HUMAN garnier swissprot:ABCB7_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ABCB7_HUMAN helixturnhelix swissprot:ABCB7_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ABCB7_HUMAN hmoment swissprot:ABCB7_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ABCB7_HUMAN iep swissprot:ABCB7_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ABCB7_HUMAN inforesidue swissprot:ABCB7_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ABCB7_HUMAN neXtProt NX_O75027 http://www.nextprot.org/db/entry/NX_O75027 octanol swissprot:ABCB7_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ABCB7_HUMAN pepcoil swissprot:ABCB7_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ABCB7_HUMAN pepdigest swissprot:ABCB7_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ABCB7_HUMAN pepinfo swissprot:ABCB7_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ABCB7_HUMAN pepnet swissprot:ABCB7_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ABCB7_HUMAN pepstats swissprot:ABCB7_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ABCB7_HUMAN pepwheel swissprot:ABCB7_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ABCB7_HUMAN pepwindow swissprot:ABCB7_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ABCB7_HUMAN sigcleave swissprot:ABCB7_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ABCB7_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS KCNK2_HUMAN Event=Alternative splicing; Named isoforms=4; Name=1; Synonyms=TREK-1b; IsoId=O95069-1; Sequence=Displayed; Name=2; Synonyms=TREK-1a; IsoId=O95069-2; Sequence=VSP_024429; Name=3; Synonyms=TREK-1c; IsoId=O95069-3; Sequence=VSP_024428; Name=4; Synonyms=TREK-1e; IsoId=O95069-4; Sequence=VSP_024428, VSP_047567, VSP_047568; # AltName KCNK2_HUMAN Outward rectifying potassium channel protein TREK-1 # AltName KCNK2_HUMAN TREK-1 K(+) channel subunit # AltName KCNK2_HUMAN Two pore domain potassium channel TREK-1 # AltName KCNK2_HUMAN Two pore potassium channel TPKC1 # CCDS CCDS31024 -. [O95069-2] # CCDS CCDS41466 -. [O95069-3] # CCDS CCDS41467 -. [O95069-1] # ChiTaRS KCNK2 human # DOMAIN KCNK2_HUMAN The C-terminal region of isoform 4 mediates its intracellular retention. {ECO 0000250}. # DrugBank DB00204 Dofetilide # DrugBank DB04855 Dronedarone # Ensembl ENST00000391894 ENSP00000375764; ENSG00000082482. [O95069-2] # Ensembl ENST00000391895 ENSP00000375765; ENSG00000082482. [O95069-3] # Ensembl ENST00000444842 ENSP00000394033; ENSG00000082482. [O95069-1] # Ensembl ENST00000467031 ENSP00000420203; ENSG00000082482. [O95069-4] # ExpressionAtlas O95069 baseline and differential # FUNCTION KCNK2_HUMAN Ion channel that contributes to passive transmembrane potassium transport (PubMed 23169818). Reversibly converts between a voltage-insensitive potassium leak channel and a voltage- dependent outward rectifying potassium channel in a phosphorylation-dependent manner (PubMed 11319556). In astrocytes, forms mostly heterodimeric potassium channels with KCNK1, with only a minor proportion of functional channels containing homodimeric KCNK2. In astrocytes, the heterodimer formed by KCNK1 and KCNK2 is required for rapid glutamate release in response to activation of G-protein coupled receptors, such as F2R and CNR1 (By similarity). {ECO 0000250|UniProtKB P97438, ECO 0000269|PubMed 10784345, ECO 0000269|PubMed 11319556, ECO 0000269|PubMed 23169818}. # FUNCTION KCNK2_HUMAN Isoform 4 Does not display channel activity but reduces the channel activity of isoform 1 and isoform 2 and reduces cell surface expression of isoform 2. {ECO 0000250}. # GO_component GO:0005634 nucleus; IEA:Ensembl. # GO_component GO:0005783 endoplasmic reticulum; ISS:UniProtKB. # GO_component GO:0005789 endoplasmic reticulum membrane; IEA:UniProtKB-SubCell. # GO_component GO:0005886 plasma membrane; ISS:UniProtKB. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0008076 voltage-gated potassium channel complex; IEA:Ensembl. # GO_component GO:0009986 cell surface; IEA:Ensembl. # GO_component GO:0016324 apical plasma membrane; IEA:Ensembl. # GO_component GO:0043025 neuronal cell body; IEA:Ensembl. # GO_component GO:0044305 calyx of Held; IEA:Ensembl. # GO_component GO:0097449 astrocyte projection; IEA:Ensembl. # GO_function GO:0015271 outward rectifier potassium channel activity; ISS:UniProtKB. # GO_function GO:0019870 potassium channel inhibitor activity; ISS:UniProtKB. # GO_function GO:0022841 potassium ion leak channel activity; ISS:UniProtKB. # GO_process GO:0003231 cardiac ventricle development; IEA:Ensembl. # GO_process GO:0007186 G-protein coupled receptor signaling pathway; IEA:Ensembl. # GO_process GO:0007613 memory; IEA:Ensembl. # GO_process GO:0009612 response to mechanical stimulus; IEA:Ensembl. # GO_process GO:0010942 positive regulation of cell death; IEA:Ensembl. # GO_process GO:0030322 stabilization of membrane potential; IBA:GO_Central. # GO_process GO:0048678 response to axon injury; IEA:Ensembl. # GO_process GO:0060044 negative regulation of cardiac muscle cell proliferation; IEA:Ensembl. # GO_process GO:0071456 cellular response to hypoxia; IEA:Ensembl. # GO_process GO:0071805 potassium ion transmembrane transport; ISS:UniProtKB. # GO_process GO:0090102 cochlea development; IEA:Ensembl. # GO_process GO:1900039 positive regulation of cellular response to hypoxia; IEA:Ensembl. # GO_process GO:2000279 negative regulation of DNA biosynthetic process; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0050877 neurological system process # GOslim_process GO:0055085 transmembrane transport # Genevisible O95069 HS # HGNC HGNC:6277 KCNK2 # InterPro IPR003280 2pore_dom_K_chnl # InterPro IPR003976 2pore_dom_K_chnl_TREK # InterPro IPR013099 K_chnl_dom # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04971 Gastric acid secretion # MIM 603219 gene # MISCELLANEOUS KCNK2_HUMAN Activated by volatile general anesthetics such as chloroform, halothane and isoflurane. # Organism KCNK2_HUMAN Homo sapiens (Human) # PDB 4TWK X-ray; 2.60 A; A/B=41-315 # PRINTS PR01333 2POREKCHANEL # PRINTS PR01499 TREKCHANNEL # PTM KCNK2_HUMAN Phosphorylation at Ser-348 controls the reversible conversion from a leak channel to a voltage-dependent channel. {ECO 0000269|PubMed 11319556}. # Pfam PF07885 Ion_trans_2; 2 # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-1299503 TWIK related potassium channel (TREK) # Reactome R-HSA-5576886 Phase 4 - resting membrane potential # RecName KCNK2_HUMAN Potassium channel subfamily K member 2 # RefSeq NP_001017424 NM_001017424.2. [O95069-3] # RefSeq NP_001017425 NM_001017425.2. [O95069-1] # RefSeq NP_055032 NM_014217.3. [O95069-2] # RefSeq XP_016856737 XM_017001248.1. [O95069-3] # SIMILARITY Belongs to the two pore domain potassium channel (TC 1.A.1.8) family. {ECO 0000305}. # SUBCELLULAR LOCATION KCNK2_HUMAN Isoform 1 Cell membrane {ECO 0000269|PubMed 23169818}; Multi-pass membrane protein {ECO 0000305}. # SUBCELLULAR LOCATION KCNK2_HUMAN Isoform 2 Cell membrane {ECO 0000269|PubMed 10784345}; Multi-pass membrane protein {ECO 0000305}. # SUBCELLULAR LOCATION KCNK2_HUMAN Isoform 4 Endoplasmic reticulum membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. # SUBUNIT KCNK2_HUMAN Homodimer; disulfide-linked (Ref.13). Heterodimer with KCNK1; disulfide-linked (By similarity). Interacts with BVES; the interaction enhances KCNK2 surface expression and is inhibited by cAMP (PubMed 26642364). {ECO 0000250|UniProtKB P97438, ECO 0000269|PubMed 26642364, ECO 0000269|Ref.13}. # TISSUE SPECIFICITY Isoform 4 is detected in kidney, adrenal gland and brain where it is preferentially expressed in the amygdala but not found in thalamus, hypothalamus, hippocampus or substantia nigra. {ECO:0000269|PubMed 24196565}. # UCSC uc001hkq human. [O95069-1] # eggNOG COG1226 LUCA # eggNOG KOG1418 Eukaryota BLAST swissprot:KCNK2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCNK2_HUMAN BioCyc ZFISH:ENSG00000082482-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000082482-MONOMER COXPRESdb 3776 http://coxpresdb.jp/data/gene/3776.shtml CleanEx HS_KCNK2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNK2 DOI 10.1007/s00424-013-1384-z http://dx.doi.org/10.1007/s00424-013-1384-z DOI 10.1007/s004249900235 http://dx.doi.org/10.1007/s004249900235 DOI 10.1038/8084 http://dx.doi.org/10.1038/8084 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/scisignal.2003431 http://dx.doi.org/10.1126/scisignal.2003431 DOI 10.1172/JCI79562 http://dx.doi.org/10.1172/JCI79562 DrugBank DB00204 http://www.drugbank.ca/drugs/DB00204 DrugBank DB04855 http://www.drugbank.ca/drugs/DB04855 EMBL AC092804 http://www.ebi.ac.uk/ena/data/view/AC092804 EMBL AC099675 http://www.ebi.ac.uk/ena/data/view/AC099675 EMBL AF004711 http://www.ebi.ac.uk/ena/data/view/AF004711 EMBL AF129399 http://www.ebi.ac.uk/ena/data/view/AF129399 EMBL AF171068 http://www.ebi.ac.uk/ena/data/view/AF171068 EMBL AK291483 http://www.ebi.ac.uk/ena/data/view/AK291483 EMBL AK315249 http://www.ebi.ac.uk/ena/data/view/AK315249 EMBL AL583830 http://www.ebi.ac.uk/ena/data/view/AL583830 EMBL AY552980 http://www.ebi.ac.uk/ena/data/view/AY552980 EMBL AY552981 http://www.ebi.ac.uk/ena/data/view/AY552981 EMBL BC069462 http://www.ebi.ac.uk/ena/data/view/BC069462 EMBL BC101693 http://www.ebi.ac.uk/ena/data/view/BC101693 EMBL BC101695 http://www.ebi.ac.uk/ena/data/view/BC101695 EMBL BC143586 http://www.ebi.ac.uk/ena/data/view/BC143586 EMBL CH471100 http://www.ebi.ac.uk/ena/data/view/CH471100 EMBL CH471100 http://www.ebi.ac.uk/ena/data/view/CH471100 EMBL EF165334 http://www.ebi.ac.uk/ena/data/view/EF165334 EMBL EF165335 http://www.ebi.ac.uk/ena/data/view/EF165335 Ensembl ENST00000391894 http://www.ensembl.org/id/ENST00000391894 Ensembl ENST00000391895 http://www.ensembl.org/id/ENST00000391895 Ensembl ENST00000444842 http://www.ensembl.org/id/ENST00000444842 Ensembl ENST00000467031 http://www.ensembl.org/id/ENST00000467031 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GO_component GO:0005789 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005789 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0008076 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008076 GO_component GO:0009986 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009986 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:0043025 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043025 GO_component GO:0044305 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044305 GO_component GO:0097449 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097449 GO_function GO:0015271 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015271 GO_function GO:0019870 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019870 GO_function GO:0022841 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022841 GO_process GO:0003231 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003231 GO_process GO:0007186 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007186 GO_process GO:0007613 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007613 GO_process GO:0009612 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009612 GO_process GO:0010942 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010942 GO_process GO:0030322 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030322 GO_process GO:0048678 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048678 GO_process GO:0060044 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060044 GO_process GO:0071456 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071456 GO_process GO:0071805 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071805 GO_process GO:0090102 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090102 GO_process GO:1900039 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1900039 GO_process GO:2000279 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000279 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards KCNK2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNK2 GeneID 3776 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=3776 GeneTree ENSGT00760000118858 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118858 HGNC HGNC:6277 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6277 HOGENOM HOG000137657 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000137657&db=HOGENOM6 HOVERGEN HBG052234 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052234&db=HOVERGEN HPA HPA056054 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA056054 InParanoid O95069 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O95069 InterPro IPR003280 http://www.ebi.ac.uk/interpro/entry/IPR003280 InterPro IPR003976 http://www.ebi.ac.uk/interpro/entry/IPR003976 InterPro IPR013099 http://www.ebi.ac.uk/interpro/entry/IPR013099 Jabion 3776 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=3776 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:3776 http://www.genome.jp/dbget-bin/www_bget?hsa:3776 KEGG_Orthology KO:K04913 http://www.genome.jp/dbget-bin/www_bget?KO:K04913 KEGG_Pathway ko04971 http://www.genome.jp/kegg-bin/show_pathway?ko04971 MIM 603219 http://www.ncbi.nlm.nih.gov/omim/603219 OMA AINVMKW http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=AINVMKW OrthoDB EOG091G0E3R http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0E3R PDB 4TWK http://www.ebi.ac.uk/pdbe-srv/view/entry/4TWK PDBsum 4TWK http://www.ebi.ac.uk/pdbsum/4TWK PRINTS PR01333 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01333 PRINTS PR01499 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01499 PSORT swissprot:KCNK2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCNK2_HUMAN PSORT-B swissprot:KCNK2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCNK2_HUMAN PSORT2 swissprot:KCNK2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCNK2_HUMAN Pfam PF07885 http://pfam.xfam.org/family/PF07885 PharmGKB PA30059 http://www.pharmgkb.org/do/serve?objId=PA30059&objCls=Gene Phobius swissprot:KCNK2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCNK2_HUMAN PhylomeDB O95069 http://phylomedb.org/?seqid=O95069 ProteinModelPortal O95069 http://www.proteinmodelportal.org/query/uniprot/O95069 PubMed 10321245 http://www.ncbi.nlm.nih.gov/pubmed/10321245 PubMed 10784345 http://www.ncbi.nlm.nih.gov/pubmed/10784345 PubMed 11319556 http://www.ncbi.nlm.nih.gov/pubmed/11319556 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 23169818 http://www.ncbi.nlm.nih.gov/pubmed/23169818 PubMed 24196565 http://www.ncbi.nlm.nih.gov/pubmed/24196565 PubMed 26642364 http://www.ncbi.nlm.nih.gov/pubmed/26642364 Reactome R-HSA-1299503 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1299503 Reactome R-HSA-5576886 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576886 RefSeq NP_001017424 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001017424 RefSeq NP_001017425 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001017425 RefSeq NP_055032 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_055032 RefSeq XP_016856737 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016856737 SMR O95069 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=O95069 STRING 9606.ENSP00000394033 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000394033&targetmode=cogs UCSC uc001hkq http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001hkq&org=rat UniGene Hs.497745 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.497745 UniProtKB KCNK2_HUMAN http://www.uniprot.org/uniprot/KCNK2_HUMAN UniProtKB-AC O95069 http://www.uniprot.org/uniprot/O95069 charge swissprot:KCNK2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCNK2_HUMAN eggNOG COG1226 http://eggnogapi.embl.de/nog_data/html/tree/COG1226 eggNOG KOG1418 http://eggnogapi.embl.de/nog_data/html/tree/KOG1418 epestfind swissprot:KCNK2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCNK2_HUMAN garnier swissprot:KCNK2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCNK2_HUMAN helixturnhelix swissprot:KCNK2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCNK2_HUMAN hmoment swissprot:KCNK2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCNK2_HUMAN iep swissprot:KCNK2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCNK2_HUMAN inforesidue swissprot:KCNK2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCNK2_HUMAN neXtProt NX_O95069 http://www.nextprot.org/db/entry/NX_O95069 octanol swissprot:KCNK2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCNK2_HUMAN pepcoil swissprot:KCNK2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCNK2_HUMAN pepdigest swissprot:KCNK2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCNK2_HUMAN pepinfo swissprot:KCNK2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCNK2_HUMAN pepnet swissprot:KCNK2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCNK2_HUMAN pepstats swissprot:KCNK2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCNK2_HUMAN pepwheel swissprot:KCNK2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCNK2_HUMAN pepwindow swissprot:KCNK2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCNK2_HUMAN sigcleave swissprot:KCNK2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCNK2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS EMB_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q6PCB8-1; Sequence=Displayed; Name=2; IsoId=Q6PCB8-2; Sequence=VSP_055593; Note=No experimental confirmation available.; # BioGrid 126358 12 # CCDS CCDS3953 -. [Q6PCB8-1] # ChiTaRS EMB human # Ensembl ENST00000303221 ENSP00000302289; ENSG00000170571. [Q6PCB8-1] # Ensembl ENST00000514111 ENSP00000426404; ENSG00000170571. [Q6PCB8-2] # ExpressionAtlas Q6PCB8 baseline and differential # FUNCTION EMB_HUMAN Plays a role in the outgrowth of motoneurons and in the formation of neuromuscular junctions. Following muscle denervation, promotes nerve terminal sprouting and the formation of additional acetylcholine receptor clusters at synaptic sites without affecting terminal Schwann cell number or morphology. Delays the retraction of terminal sprouts following re-innervation of denervated endplates. May play a role in targeting the monocarboxylate transporters SLC16A1 and SLC16A7 to the cell membrane (By similarity). {ECO 0000250}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; ISS:UniProtKB. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0045202 synapse; IEA:UniProtKB-SubCell. # GO_function GO:0008028 monocarboxylic acid transmembrane transporter activity; TAS:Reactome. # GO_process GO:0035879 plasma membrane lactate transport; ISS:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0055085 transmembrane transport # Gene3D 2.60.40.10 -; 2. # Genevisible Q6PCB8 HS # HGNC HGNC:30465 EMB # InterPro IPR003599 Ig_sub # InterPro IPR007110 Ig-like_dom # InterPro IPR013098 Ig_I-set # InterPro IPR013151 Immunoglobulin # InterPro IPR013783 Ig-like_fold # InterPro IPR027114 Embigin # MIM 615669 gene # Organism EMB_HUMAN Homo sapiens (Human) # PANTHER PTHR10075:SF4 PTHR10075:SF4 # PROSITE PS50835 IG_LIKE; 2 # Pfam PF00047 ig # Pfam PF07679 I-set # Proteomes UP000005640 Chromosome 5 # Reactome R-HSA-433692 Proton-coupled monocarboxylate transport # RecName EMB_HUMAN Embigin # RefSeq NP_940851 NM_198449.2. [Q6PCB8-1] # RefSeq XP_011541448 XM_011543146.2. [Q6PCB8-2] # SIMILARITY Contains 2 Ig-like V-type (immunoglobulin-like) domains. {ECO 0000305}. # SMART SM00409 IG; 2 # SUBCELLULAR LOCATION EMB_HUMAN Cell membrane {ECO 0000250|UniProtKB O88775}; Single-pass type I membrane protein {ECO 0000250|UniProtKB O88775}. Cell junction, synapse {ECO 0000250|UniProtKB P21995}. Note=Localizes to the neuromuscular junctions. {ECO 0000250|UniProtKB P21995}. # SUBUNIT Interacts with SLC16A1 and SLC16A7. {ECO 0000250}. # SUPFAM SSF48726 SSF48726; 2 # TCDB 8.A.23.1 the basigin (basigin) family # UCSC uc003jom human. [Q6PCB8-1] # eggNOG ENOG410IVBC Eukaryota # eggNOG ENOG41120A3 LUCA BLAST swissprot:EMB_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:EMB_HUMAN COXPRESdb 133418 http://coxpresdb.jp/data/gene/133418.shtml CleanEx HS_EMB http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_EMB DOI 10.1038/nature02919 http://dx.doi.org/10.1038/nature02919 DOI 10.1038/nbt.1532 http://dx.doi.org/10.1038/nbt.1532 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AC035145 http://www.ebi.ac.uk/ena/data/view/AC035145 EMBL AC091833 http://www.ebi.ac.uk/ena/data/view/AC091833 EMBL AK300860 http://www.ebi.ac.uk/ena/data/view/AK300860 EMBL AK304226 http://www.ebi.ac.uk/ena/data/view/AK304226 EMBL BC059398 http://www.ebi.ac.uk/ena/data/view/BC059398 EMBL CH471123 http://www.ebi.ac.uk/ena/data/view/CH471123 EMBL CH471123 http://www.ebi.ac.uk/ena/data/view/CH471123 Ensembl ENST00000303221 http://www.ensembl.org/id/ENST00000303221 Ensembl ENST00000514111 http://www.ensembl.org/id/ENST00000514111 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0045202 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045202 GO_function GO:0008028 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008028 GO_process GO:0035879 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035879 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 2.60.40.10 http://www.cathdb.info/version/latest/superfamily/2.60.40.10 GeneCards EMB http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=EMB GeneID 133418 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=133418 GeneTree ENSGT00390000010516 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000010516 HGNC HGNC:30465 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:30465 HOGENOM HOG000082417 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000082417&db=HOGENOM6 HOVERGEN HBG051471 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG051471&db=HOVERGEN HPA HPA017740 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA017740 InParanoid Q6PCB8 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q6PCB8 InterPro IPR003599 http://www.ebi.ac.uk/interpro/entry/IPR003599 InterPro IPR007110 http://www.ebi.ac.uk/interpro/entry/IPR007110 InterPro IPR013098 http://www.ebi.ac.uk/interpro/entry/IPR013098 InterPro IPR013151 http://www.ebi.ac.uk/interpro/entry/IPR013151 InterPro IPR013783 http://www.ebi.ac.uk/interpro/entry/IPR013783 InterPro IPR027114 http://www.ebi.ac.uk/interpro/entry/IPR027114 Jabion 133418 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=133418 KEGG_Gene hsa:133418 http://www.genome.jp/dbget-bin/www_bget?hsa:133418 MIM 615669 http://www.ncbi.nlm.nih.gov/omim/615669 OMA SKQMGSY http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=SKQMGSY OrthoDB EOG091G0RFU http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0RFU PANTHER PTHR10075:SF4 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10075:SF4 PROSITE PS50835 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50835 PSORT swissprot:EMB_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:EMB_HUMAN PSORT-B swissprot:EMB_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:EMB_HUMAN PSORT2 swissprot:EMB_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:EMB_HUMAN Pfam PF00047 http://pfam.xfam.org/family/PF00047 Pfam PF07679 http://pfam.xfam.org/family/PF07679 PharmGKB PA134917460 http://www.pharmgkb.org/do/serve?objId=PA134917460&objCls=Gene Phobius swissprot:EMB_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:EMB_HUMAN PhylomeDB Q6PCB8 http://phylomedb.org/?seqid=Q6PCB8 ProteinModelPortal Q6PCB8 http://www.proteinmodelportal.org/query/uniprot/Q6PCB8 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15372022 http://www.ncbi.nlm.nih.gov/pubmed/15372022 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 19349973 http://www.ncbi.nlm.nih.gov/pubmed/19349973 Reactome R-HSA-433692 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-433692 RefSeq NP_940851 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_940851 RefSeq XP_011541448 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011541448 SMART SM00409 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00409 STRING 9606.ENSP00000302289 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000302289&targetmode=cogs SUPFAM SSF48726 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48726 TCDB 8.A.23.1 http://www.tcdb.org/search/result.php?tc=8.A.23.1 UCSC uc003jom http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003jom&org=rat UniGene Hs.561411 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.561411 UniProtKB EMB_HUMAN http://www.uniprot.org/uniprot/EMB_HUMAN UniProtKB-AC Q6PCB8 http://www.uniprot.org/uniprot/Q6PCB8 charge swissprot:EMB_HUMAN http://rest.g-language.org/emboss/charge/swissprot:EMB_HUMAN eggNOG ENOG410IVBC http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IVBC eggNOG ENOG41120A3 http://eggnogapi.embl.de/nog_data/html/tree/ENOG41120A3 epestfind swissprot:EMB_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:EMB_HUMAN garnier swissprot:EMB_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:EMB_HUMAN helixturnhelix swissprot:EMB_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:EMB_HUMAN hmoment swissprot:EMB_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:EMB_HUMAN iep swissprot:EMB_HUMAN http://rest.g-language.org/emboss/iep/swissprot:EMB_HUMAN inforesidue swissprot:EMB_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:EMB_HUMAN neXtProt NX_Q6PCB8 http://www.nextprot.org/db/entry/NX_Q6PCB8 octanol swissprot:EMB_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:EMB_HUMAN pepcoil swissprot:EMB_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:EMB_HUMAN pepdigest swissprot:EMB_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:EMB_HUMAN pepinfo swissprot:EMB_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:EMB_HUMAN pepnet swissprot:EMB_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:EMB_HUMAN pepstats swissprot:EMB_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:EMB_HUMAN pepwheel swissprot:EMB_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:EMB_HUMAN pepwindow swissprot:EMB_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:EMB_HUMAN sigcleave swissprot:EMB_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:EMB_HUMAN ## Database ID URL or Descriptions # AltName ATP6_HUMAN F-ATPase protein 6 # DISEASE ATP6_HUMAN Leber hereditary optic neuropathy (LHON) [MIM 535000] A maternally inherited disease resulting in acute or subacute loss of central vision, due to optic nerve dysfunction. Cardiac conduction defects and neurological defects have also been described in some patients. LHON results from primary mitochondrial DNA mutations affecting the respiratory chain complexes. {ECO 0000269|PubMed 7726182}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE ATP6_HUMAN Leigh syndrome (LS) [MIM 256000] An early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia. {ECO 0000269|PubMed 17352390, ECO 0000269|PubMed 8395787, ECO 0000269|PubMed 9270604, ECO 0000269|PubMed 9501263, ECO 0000269|PubMed 9556461}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE ATP6_HUMAN Mitochondrial complex V deficiency, mitochondrial 1 (MC5DM1) [MIM 516060] A mitochondrial disorder with heterogeneous clinical manifestations including neuropathy, ataxia, hypertrophic cardiomyopathy. Hypertrophic cardiomyopathy can present with negligible to extreme hypertrophy, minimal to extensive fibrosis and myocyte disarray, absent to severe left ventricular outflow tract obstruction, and distinct septal contours/morphologies with extremely varying clinical course. {ECO 0000269|PubMed 16049925, ECO 0000269|PubMed 18055910}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE ATP6_HUMAN Mitochondrial infantile bilateral striatal necrosis (MIBSN) [MIM 500003] Bilateral striatal necrosis is a neurological disorder resembling Leigh syndrome. {ECO 0000269|PubMed 7668837}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE ATP6_HUMAN Myopathy, lactic acidosis, and sideroblastic anemia 3 (MLASA3) [MIM 500011] A rare mitochondrial disorder characterized by sideroblastic anemia, muscle weakness, and exercise intolerance associated with persistent lactic acidemia. Additional MLASA3 features are failure to thrive, hearing loss, epilepsy, stroke- like episodes, and severe developmental delay. {ECO 0000269|PubMed 25037980}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE ATP6_HUMAN Neuropathy, ataxia, and retinitis pigmentosa (NARP) [MIM 551500] A syndrome characterized by variable combination of developmental delay, psychomotor retardation, hearing loss, optic atrophy and retinitis pigmentosa, dementia, seizures, ataxia, proximal neurogenic muscle weakness, and sensory neuropathy. {ECO 0000269|PubMed 2137962}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000361899 ENSP00000354632; ENSG00000198899 # ExpressionAtlas P00846 baseline and differential # FUNCTION ATP6_HUMAN Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Key component of the proton channel; it may play a direct role in the translocation of protons across the membrane. # GO_component GO:0005743 mitochondrial inner membrane; TAS:Reactome. # GO_component GO:0005753 mitochondrial proton-transporting ATP synthase complex; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0045263 proton-transporting ATP synthase complex, coupling factor F(o); IEA:UniProtKB-KW. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0015078 hydrogen ion transmembrane transporter activity; IEA:InterPro. # GO_function GO:0022857 transmembrane transporter activity; IC:UniProtKB. # GO_process GO:0006754 ATP biosynthetic process; TAS:Reactome. # GO_process GO:0007568 aging; IEA:Ensembl. # GO_process GO:0042776 mitochondrial ATP synthesis coupled proton transport; IC:UniProtKB. # GO_process GO:0055093 response to hyperoxia; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0043226 organelle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007568 aging # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0044281 small molecule metabolic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.20.120.220 -; 1. # Genevisible P00846 HS # HGNC HGNC:7414 MT-ATP6 # IntAct P00846 14 # InterPro IPR000568 ATP_synth_F0_asu # InterPro IPR023011 ATP_synth_F0_asu_AS # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Brite ko01000 Enzymes # KEGG_Disease H00068 [Neurodegenerative disease] Leber hereditary optic atrophy (LHON) # KEGG_Disease H01177 [Nervous system disease] Infantile bilateral striatal necrosis (IBSN) # KEGG_Disease H01355 [Inherited metabolic disease; Mitochondrial disease] Kearns-Sayre Syndrome # KEGG_Disease H01363 [Inherited metabolic disease; Neurodegenerative disease; Mitochondrial disease] Neuropathy ataxia and retinis pigmentosa # KEGG_Disease H01369 [Inherited metabolic disease; Mitochondrial disease] Mitochondrial infantile bilateral striatal necrosis (MIBSN) # KEGG_Pathway ko00190 Oxidative phosphorylation # KEGG_Pathway ko05010 Alzheimer's disease # KEGG_Pathway ko05012 Parkinson's disease # KEGG_Pathway ko05016 Huntington's disease # MIM 256000 phenotype # MIM 500003 phenotype # MIM 500011 phenotype # MIM 516060 gene+phenotype # MIM 535000 phenotype # MIM 551500 phenotype # Organism ATP6_HUMAN Homo sapiens (Human) # Orphanet 104 Leber hereditary optic neuropathy # Orphanet 155 Familial isolated hypertrophic cardiomyopathy # Orphanet 225154 Familial infantile bilateral striatal necrosis # Orphanet 255210 Maternally-inherited Leigh syndrome # Orphanet 320360 Maternally-inherited spastic paraplegia # Orphanet 397750 Periodic paralysis with later-onset distal motor neuropathy # Orphanet 644 NARP syndrome # PANTHER PTHR11410 PTHR11410 # PIR A01049 PWHU6 # PRINTS PR00123 ATPASEA # PROSITE PS00449 ATPASE_A # Pfam PF00119 ATP-synt_A # Proteomes UP000005640 Mitochondrion # Reactome R-HSA-163210 Formation of ATP by chemiosmotic coupling # RecName ATP6_HUMAN ATP synthase subunit a # RefSeq YP_003024031 NC_012920.1 # SIMILARITY Belongs to the ATPase A chain family. {ECO 0000305}. # SUBCELLULAR LOCATION ATP6_HUMAN Mitochondrion inner membrane; Multi-pass membrane protein. # SUBUNIT F-type ATPases have 2 components, CF(1) - the catalytic core - and CF(0) - the membrane proton channel. CF(1) has five subunits: alpha(3), beta(3), gamma(1), delta(1), epsilon(1). CF(0) has three main subunits a, b and c. Component of an ATP synthase complex composed of ATP5F1, ATP5G1, ATP5E, ATP5H, ATP5I, ATP5J, ATP5J2, MT-ATP6, MT-ATP8, ATP5A1, ATP5B, ATP5D, ATP5C1, ATP5O, ATP5L, USMG5 and MP68 (By similarity). {ECO:0000250}. # SUPFAM SSF81336 SSF81336 # TIGRFAMs TIGR01131 ATP_synt_6_or_A # eggNOG COG0356 LUCA # eggNOG KOG4665 Eukaryota BLAST swissprot:ATP6_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ATP6_HUMAN COG COG0356 http://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=COG0356 COXPRESdb 4508 http://coxpresdb.jp/data/gene/4508.shtml DOI 10.1002/ajmg.a.31637 http://dx.doi.org/10.1002/ajmg.a.31637 DOI 10.1002/ana.20555 http://dx.doi.org/10.1002/ana.20555 DOI 10.1002/ana.410340319 http://dx.doi.org/10.1002/ana.410340319 DOI 10.1002/ana.410380321 http://dx.doi.org/10.1002/ana.410380321 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1007/BF00206061 http://dx.doi.org/10.1007/BF00206061 DOI 10.1007/s00414-004-0427-6 http://dx.doi.org/10.1007/s00414-004-0427-6 DOI 10.1016/j.ymgme.2014.06.004 http://dx.doi.org/10.1016/j.ymgme.2014.06.004 DOI 10.1023/A:1005397227996 http://dx.doi.org/10.1023/A:1005397227996 DOI 10.1038/290457a0 http://dx.doi.org/10.1038/290457a0 DOI 10.1038/35047064 http://dx.doi.org/10.1038/35047064 DOI 10.1046/j.1529-8817.2003.00127.x http://dx.doi.org/10.1046/j.1529-8817.2003.00127.x DOI 10.1073/pnas.0136972100 http://dx.doi.org/10.1073/pnas.0136972100 DOI 10.1073/pnas.92.2.532 http://dx.doi.org/10.1073/pnas.92.2.532 DOI 10.1086/301751 http://dx.doi.org/10.1086/301751 DOI 10.1086/341358 http://dx.doi.org/10.1086/341358 DOI 10.1086/377718 http://dx.doi.org/10.1086/377718 DOI 10.1086/425590 http://dx.doi.org/10.1086/425590 DOI 10.1086/425871 http://dx.doi.org/10.1086/425871 DOI 10.1093/molbev/msg230 http://dx.doi.org/10.1093/molbev/msg230 DOI 10.1093/nar/26.4.967 http://dx.doi.org/10.1093/nar/26.4.967 DOI 10.1101/gr.686603 http://dx.doi.org/10.1101/gr.686603 DOI 10.1126/science.3201231 http://dx.doi.org/10.1126/science.3201231 DOI 10.1136/jmg.2007.052902 http://dx.doi.org/10.1136/jmg.2007.052902 DOI 10.1186/1471-2156-2-13 http://dx.doi.org/10.1186/1471-2156-2-13 DOI 10.1186/1471-2156-4-15 http://dx.doi.org/10.1186/1471-2156-4-15 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DOI 10.1212/WNL.49.2.595 http://dx.doi.org/10.1212/WNL.49.2.595 EMBL AF346971 http://www.ebi.ac.uk/ena/data/view/AF346971 EMBL AF347011 http://www.ebi.ac.uk/ena/data/view/AF347011 EMBL AF381997 http://www.ebi.ac.uk/ena/data/view/AF381997 EMBL AF382010 http://www.ebi.ac.uk/ena/data/view/AF382010 EMBL AF465948 http://www.ebi.ac.uk/ena/data/view/AF465948 EMBL AF465949 http://www.ebi.ac.uk/ena/data/view/AF465949 EMBL AF465950 http://www.ebi.ac.uk/ena/data/view/AF465950 EMBL AF465956 http://www.ebi.ac.uk/ena/data/view/AF465956 EMBL AF465957 http://www.ebi.ac.uk/ena/data/view/AF465957 EMBL AF465962 http://www.ebi.ac.uk/ena/data/view/AF465962 EMBL AF465972 http://www.ebi.ac.uk/ena/data/view/AF465972 EMBL AF465974 http://www.ebi.ac.uk/ena/data/view/AF465974 EMBL AF465975 http://www.ebi.ac.uk/ena/data/view/AF465975 EMBL AF465976 http://www.ebi.ac.uk/ena/data/view/AF465976 EMBL AY195749 http://www.ebi.ac.uk/ena/data/view/AY195749 EMBL AY195764 http://www.ebi.ac.uk/ena/data/view/AY195764 EMBL AY195773 http://www.ebi.ac.uk/ena/data/view/AY195773 EMBL AY195786 http://www.ebi.ac.uk/ena/data/view/AY195786 EMBL AY255144 http://www.ebi.ac.uk/ena/data/view/AY255144 EMBL AY255147 http://www.ebi.ac.uk/ena/data/view/AY255147 EMBL AY255180 http://www.ebi.ac.uk/ena/data/view/AY255180 EMBL AY275529 http://www.ebi.ac.uk/ena/data/view/AY275529 EMBL AY289076 http://www.ebi.ac.uk/ena/data/view/AY289076 EMBL AY289100 http://www.ebi.ac.uk/ena/data/view/AY289100 EMBL AY339407 http://www.ebi.ac.uk/ena/data/view/AY339407 EMBL AY339408 http://www.ebi.ac.uk/ena/data/view/AY339408 EMBL AY339510 http://www.ebi.ac.uk/ena/data/view/AY339510 EMBL AY339511 http://www.ebi.ac.uk/ena/data/view/AY339511 EMBL AY339512 http://www.ebi.ac.uk/ena/data/view/AY339512 EMBL AY339513 http://www.ebi.ac.uk/ena/data/view/AY339513 EMBL AY339530 http://www.ebi.ac.uk/ena/data/view/AY339530 EMBL AY339531 http://www.ebi.ac.uk/ena/data/view/AY339531 EMBL AY339532 http://www.ebi.ac.uk/ena/data/view/AY339532 EMBL AY339533 http://www.ebi.ac.uk/ena/data/view/AY339533 EMBL AY339534 http://www.ebi.ac.uk/ena/data/view/AY339534 EMBL AY339535 http://www.ebi.ac.uk/ena/data/view/AY339535 EMBL AY339536 http://www.ebi.ac.uk/ena/data/view/AY339536 EMBL AY339537 http://www.ebi.ac.uk/ena/data/view/AY339537 EMBL AY339538 http://www.ebi.ac.uk/ena/data/view/AY339538 EMBL AY339539 http://www.ebi.ac.uk/ena/data/view/AY339539 EMBL AY339540 http://www.ebi.ac.uk/ena/data/view/AY339540 EMBL AY339541 http://www.ebi.ac.uk/ena/data/view/AY339541 EMBL AY339543 http://www.ebi.ac.uk/ena/data/view/AY339543 EMBL AY339581 http://www.ebi.ac.uk/ena/data/view/AY339581 EMBL AY339582 http://www.ebi.ac.uk/ena/data/view/AY339582 EMBL AY339584 http://www.ebi.ac.uk/ena/data/view/AY339584 EMBL AY495147 http://www.ebi.ac.uk/ena/data/view/AY495147 EMBL AY495199 http://www.ebi.ac.uk/ena/data/view/AY495199 EMBL AY495231 http://www.ebi.ac.uk/ena/data/view/AY495231 EMBL AY495232 http://www.ebi.ac.uk/ena/data/view/AY495232 EMBL AY495233 http://www.ebi.ac.uk/ena/data/view/AY495233 EMBL AY495234 http://www.ebi.ac.uk/ena/data/view/AY495234 EMBL AY495235 http://www.ebi.ac.uk/ena/data/view/AY495235 EMBL AY495236 http://www.ebi.ac.uk/ena/data/view/AY495236 EMBL AY495237 http://www.ebi.ac.uk/ena/data/view/AY495237 EMBL AY495238 http://www.ebi.ac.uk/ena/data/view/AY495238 EMBL AY519488 http://www.ebi.ac.uk/ena/data/view/AY519488 EMBL AY713988 http://www.ebi.ac.uk/ena/data/view/AY713988 EMBL AY713999 http://www.ebi.ac.uk/ena/data/view/AY713999 EMBL AY714004 http://www.ebi.ac.uk/ena/data/view/AY714004 EMBL AY714013 http://www.ebi.ac.uk/ena/data/view/AY714013 EMBL AY714014 http://www.ebi.ac.uk/ena/data/view/AY714014 EMBL AY714028 http://www.ebi.ac.uk/ena/data/view/AY714028 EMBL AY714031 http://www.ebi.ac.uk/ena/data/view/AY714031 EMBL AY714035 http://www.ebi.ac.uk/ena/data/view/AY714035 EMBL AY714045 http://www.ebi.ac.uk/ena/data/view/AY714045 EMBL AY738945 http://www.ebi.ac.uk/ena/data/view/AY738945 EMBL AY738967 http://www.ebi.ac.uk/ena/data/view/AY738967 EMBL D38112 http://www.ebi.ac.uk/ena/data/view/D38112 EMBL J01415 http://www.ebi.ac.uk/ena/data/view/J01415 EMBL V00662 http://www.ebi.ac.uk/ena/data/view/V00662 Ensembl ENST00000361899 http://www.ensembl.org/id/ENST00000361899 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0005753 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005753 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0045263 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045263 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0015078 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015078 GO_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GO_process GO:0006754 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006754 GO_process GO:0007568 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007568 GO_process GO:0042776 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042776 GO_process GO:0055093 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055093 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007568 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007568 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.20.120.220 http://www.cathdb.info/version/latest/superfamily/1.20.120.220 GeneCards MT-ATP6 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=MT-ATP6 GeneID 4508 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=4508 GeneTree ENSGT00390000005568 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000005568 HGNC HGNC:7414 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:7414 HOVERGEN HBG016693 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG016693&db=HOVERGEN InParanoid P00846 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P00846 IntAct P00846 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P00846* InterPro IPR000568 http://www.ebi.ac.uk/interpro/entry/IPR000568 InterPro IPR023011 http://www.ebi.ac.uk/interpro/entry/IPR023011 Jabion 4508 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=4508 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00002 http://www.genome.jp/dbget-bin/www_bget?ko00002 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Disease H00068 http://www.genome.jp/dbget-bin/www_bget?H00068 KEGG_Disease H01177 http://www.genome.jp/dbget-bin/www_bget?H01177 KEGG_Disease H01355 http://www.genome.jp/dbget-bin/www_bget?H01355 KEGG_Disease H01363 http://www.genome.jp/dbget-bin/www_bget?H01363 KEGG_Disease H01369 http://www.genome.jp/dbget-bin/www_bget?H01369 KEGG_Gene hsa:4508 http://www.genome.jp/dbget-bin/www_bget?hsa:4508 KEGG_Orthology KO:K02126 http://www.genome.jp/dbget-bin/www_bget?KO:K02126 KEGG_Pathway ko00190 http://www.genome.jp/kegg-bin/show_pathway?ko00190 KEGG_Pathway ko05010 http://www.genome.jp/kegg-bin/show_pathway?ko05010 KEGG_Pathway ko05012 http://www.genome.jp/kegg-bin/show_pathway?ko05012 KEGG_Pathway ko05016 http://www.genome.jp/kegg-bin/show_pathway?ko05016 MIM 256000 http://www.ncbi.nlm.nih.gov/omim/256000 MIM 500003 http://www.ncbi.nlm.nih.gov/omim/500003 MIM 500011 http://www.ncbi.nlm.nih.gov/omim/500011 MIM 516060 http://www.ncbi.nlm.nih.gov/omim/516060 MIM 535000 http://www.ncbi.nlm.nih.gov/omim/535000 MIM 551500 http://www.ncbi.nlm.nih.gov/omim/551500 OMA ALIMIET http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=ALIMIET Orphanet 104 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=104 Orphanet 155 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=155 Orphanet 225154 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=225154 Orphanet 255210 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=255210 Orphanet 320360 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=320360 Orphanet 397750 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=397750 Orphanet 644 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=644 OrthoDB EOG091G12DP http://cegg.unige.ch/orthodb/results?searchtext=EOG091G12DP PANTHER PTHR11410 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11410 PRINTS PR00123 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00123 PROSITE PS00449 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00449 PSORT swissprot:ATP6_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ATP6_HUMAN PSORT-B swissprot:ATP6_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ATP6_HUMAN PSORT2 swissprot:ATP6_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ATP6_HUMAN Pfam PF00119 http://pfam.xfam.org/family/PF00119 Phobius swissprot:ATP6_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ATP6_HUMAN PhylomeDB P00846 http://phylomedb.org/?seqid=P00846 ProteinModelPortal P00846 http://www.proteinmodelportal.org/query/uniprot/P00846 PubMed 11130070 http://www.ncbi.nlm.nih.gov/pubmed/11130070 PubMed 11553319 http://www.ncbi.nlm.nih.gov/pubmed/11553319 PubMed 12022039 http://www.ncbi.nlm.nih.gov/pubmed/12022039 PubMed 12509511 http://www.ncbi.nlm.nih.gov/pubmed/12509511 PubMed 12840039 http://www.ncbi.nlm.nih.gov/pubmed/12840039 PubMed 12870132 http://www.ncbi.nlm.nih.gov/pubmed/12870132 PubMed 12949126 http://www.ncbi.nlm.nih.gov/pubmed/12949126 PubMed 14563219 http://www.ncbi.nlm.nih.gov/pubmed/14563219 PubMed 14760490 http://www.ncbi.nlm.nih.gov/pubmed/14760490 PubMed 15382008 http://www.ncbi.nlm.nih.gov/pubmed/15382008 PubMed 15467980 http://www.ncbi.nlm.nih.gov/pubmed/15467980 PubMed 15638829 http://www.ncbi.nlm.nih.gov/pubmed/15638829 PubMed 16049925 http://www.ncbi.nlm.nih.gov/pubmed/16049925 PubMed 17352390 http://www.ncbi.nlm.nih.gov/pubmed/17352390 PubMed 1757091 http://www.ncbi.nlm.nih.gov/pubmed/1757091 PubMed 18055910 http://www.ncbi.nlm.nih.gov/pubmed/18055910 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 2137962 http://www.ncbi.nlm.nih.gov/pubmed/2137962 PubMed 25037980 http://www.ncbi.nlm.nih.gov/pubmed/25037980 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 3201231 http://www.ncbi.nlm.nih.gov/pubmed/3201231 PubMed 7219534 http://www.ncbi.nlm.nih.gov/pubmed/7219534 PubMed 7530363 http://www.ncbi.nlm.nih.gov/pubmed/7530363 PubMed 7668837 http://www.ncbi.nlm.nih.gov/pubmed/7668837 PubMed 7726182 http://www.ncbi.nlm.nih.gov/pubmed/7726182 PubMed 8395787 http://www.ncbi.nlm.nih.gov/pubmed/8395787 PubMed 9270604 http://www.ncbi.nlm.nih.gov/pubmed/9270604 PubMed 9461455 http://www.ncbi.nlm.nih.gov/pubmed/9461455 PubMed 9501263 http://www.ncbi.nlm.nih.gov/pubmed/9501263 PubMed 9556461 http://www.ncbi.nlm.nih.gov/pubmed/9556461 Reactome R-HSA-163210 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-163210 RefSeq YP_003024031 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=YP_003024031 STRING 9606.ENSP00000354632 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000354632&targetmode=cogs STRING COG0356 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=COG0356&targetmode=cogs SUPFAM SSF81336 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81336 TIGRFAMs TIGR01131 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01131 UniProtKB ATP6_HUMAN http://www.uniprot.org/uniprot/ATP6_HUMAN UniProtKB-AC P00846 http://www.uniprot.org/uniprot/P00846 charge swissprot:ATP6_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ATP6_HUMAN eggNOG COG0356 http://eggnogapi.embl.de/nog_data/html/tree/COG0356 eggNOG KOG4665 http://eggnogapi.embl.de/nog_data/html/tree/KOG4665 epestfind swissprot:ATP6_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ATP6_HUMAN garnier swissprot:ATP6_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ATP6_HUMAN helixturnhelix swissprot:ATP6_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ATP6_HUMAN hmoment swissprot:ATP6_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ATP6_HUMAN iep swissprot:ATP6_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ATP6_HUMAN inforesidue swissprot:ATP6_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ATP6_HUMAN neXtProt NX_P00846 http://www.nextprot.org/db/entry/NX_P00846 octanol swissprot:ATP6_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ATP6_HUMAN pepcoil swissprot:ATP6_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ATP6_HUMAN pepdigest swissprot:ATP6_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ATP6_HUMAN pepinfo swissprot:ATP6_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ATP6_HUMAN pepnet swissprot:ATP6_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ATP6_HUMAN pepstats swissprot:ATP6_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ATP6_HUMAN pepwheel swissprot:ATP6_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ATP6_HUMAN pepwindow swissprot:ATP6_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ATP6_HUMAN sigcleave swissprot:ATP6_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ATP6_HUMAN ## Database ID URL or Descriptions # AltName VAS1L_HUMAN Vacuolar proton pump subunit S1-like protein # Ensembl ENST00000380167 ENSP00000369513; ENSG00000205464 # Ensembl ENST00000439350 ENSP00000391381; ENSG00000205464 # ExpressionAtlas Q52LC2 baseline and differential # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0033180 proton-transporting V-type ATPase, V1 domain; IEA:InterPro. # GO_function GO:0046933 proton-transporting ATP synthase activity, rotational mechanism; IEA:InterPro. # GO_function GO:0046961 proton-transporting ATPase activity, rotational mechanism; IEA:InterPro. # GO_process GO:0015991 ATP hydrolysis coupled proton transport; IEA:InterPro. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0043234 protein complex # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0055085 transmembrane transport # Genevisible Q52LC2 HS # HGNC HGNC:28091 ATP6AP1L # InterPro IPR008388 ATPase_V1-cplx_s1su # InterPro IPR024722 ATPase_V1_suS1_fam # Organism VAS1L_HUMAN Homo sapiens (Human) # PANTHER PTHR12471 PTHR12471 # Pfam PF05827 ATP-synt_S1 # Proteomes UP000005640 Chromosome 5 # RecName VAS1L_HUMAN V-type proton ATPase subunit S1-like protein # RefSeq NP_001017971 NM_001017971.2 # RefSeq XP_011542025 XM_011543723.2 # RefSeq XP_016865530 XM_017010041.1 # RefSeq XP_016865531 XM_017010042.1 # RefSeq XP_016865532 XM_017010043.1 # RefSeq XP_016865533 XM_017010044.1 # RefSeq XP_016865534 XM_017010045.1 # RefSeq XP_016865535 XM_017010046.1 # RefSeq XP_016865536 XM_017010047.1 # SIMILARITY Belongs to the vacuolar ATPase subunit S1 family. {ECO 0000305}. # SUBCELLULAR LOCATION VAS1L_HUMAN Membrane {ECO 0000305}; Single-pass membrane protein {ECO 0000305}. # UCSC uc003khv human # eggNOG ENOG410XTHY LUCA # eggNOG KOG3868 Eukaryota BLAST swissprot:VAS1L_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:VAS1L_HUMAN BioCyc ZFISH:G66-31397-MONOMER http://biocyc.org/getid?id=ZFISH:G66-31397-MONOMER COXPRESdb 92270 http://coxpresdb.jp/data/gene/92270.shtml DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL BC093982 http://www.ebi.ac.uk/ena/data/view/BC093982 EMBL BC112191 http://www.ebi.ac.uk/ena/data/view/BC112191 EMBL CH471084 http://www.ebi.ac.uk/ena/data/view/CH471084 Ensembl ENST00000380167 http://www.ensembl.org/id/ENST00000380167 Ensembl ENST00000439350 http://www.ensembl.org/id/ENST00000439350 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0033180 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033180 GO_function GO:0046933 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046933 GO_function GO:0046961 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046961 GO_process GO:0015991 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015991 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards ATP6AP1L http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ATP6AP1L GeneID 92270 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=92270 GeneTree ENSGT00530000063584 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000063584 HGNC HGNC:28091 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:28091 HOGENOM HOG000154807 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000154807&db=HOGENOM6 HPA HPA053771 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA053771 InParanoid Q52LC2 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q52LC2 InterPro IPR008388 http://www.ebi.ac.uk/interpro/entry/IPR008388 InterPro IPR024722 http://www.ebi.ac.uk/interpro/entry/IPR024722 Jabion 92270 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=92270 KEGG_Gene hsa:92270 http://www.genome.jp/dbget-bin/www_bget?hsa:92270 OMA MSSLWEV http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=MSSLWEV OrthoDB EOG091G0772 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0772 PANTHER PTHR12471 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12471 PSORT swissprot:VAS1L_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:VAS1L_HUMAN PSORT-B swissprot:VAS1L_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:VAS1L_HUMAN PSORT2 swissprot:VAS1L_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:VAS1L_HUMAN Pfam PF05827 http://pfam.xfam.org/family/PF05827 PharmGKB PA164716384 http://www.pharmgkb.org/do/serve?objId=PA164716384&objCls=Gene Phobius swissprot:VAS1L_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:VAS1L_HUMAN PhylomeDB Q52LC2 http://phylomedb.org/?seqid=Q52LC2 ProteinModelPortal Q52LC2 http://www.proteinmodelportal.org/query/uniprot/Q52LC2 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 RefSeq NP_001017971 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001017971 RefSeq XP_011542025 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011542025 RefSeq XP_016865530 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016865530 RefSeq XP_016865531 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016865531 RefSeq XP_016865532 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016865532 RefSeq XP_016865533 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016865533 RefSeq XP_016865534 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016865534 RefSeq XP_016865535 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016865535 RefSeq XP_016865536 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016865536 SMR Q52LC2 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q52LC2 STRING 9606.ENSP00000369513 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000369513&targetmode=cogs UCSC uc003khv http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003khv&org=rat UniGene Hs.729805 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.729805 UniProtKB VAS1L_HUMAN http://www.uniprot.org/uniprot/VAS1L_HUMAN UniProtKB-AC Q52LC2 http://www.uniprot.org/uniprot/Q52LC2 charge swissprot:VAS1L_HUMAN http://rest.g-language.org/emboss/charge/swissprot:VAS1L_HUMAN eggNOG ENOG410XTHY http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XTHY eggNOG KOG3868 http://eggnogapi.embl.de/nog_data/html/tree/KOG3868 epestfind swissprot:VAS1L_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:VAS1L_HUMAN garnier swissprot:VAS1L_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:VAS1L_HUMAN helixturnhelix swissprot:VAS1L_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:VAS1L_HUMAN hmoment swissprot:VAS1L_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:VAS1L_HUMAN iep swissprot:VAS1L_HUMAN http://rest.g-language.org/emboss/iep/swissprot:VAS1L_HUMAN inforesidue swissprot:VAS1L_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:VAS1L_HUMAN neXtProt NX_Q52LC2 http://www.nextprot.org/db/entry/NX_Q52LC2 octanol swissprot:VAS1L_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:VAS1L_HUMAN pepcoil swissprot:VAS1L_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:VAS1L_HUMAN pepdigest swissprot:VAS1L_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:VAS1L_HUMAN pepinfo swissprot:VAS1L_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:VAS1L_HUMAN pepnet swissprot:VAS1L_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:VAS1L_HUMAN pepstats swissprot:VAS1L_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:VAS1L_HUMAN pepwheel swissprot:VAS1L_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:VAS1L_HUMAN pepwindow swissprot:VAS1L_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:VAS1L_HUMAN sigcleave swissprot:VAS1L_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:VAS1L_HUMAN ## Database ID URL or Descriptions # AltName AT5G1_HUMAN ATP synthase lipid-binding protein # AltName AT5G1_HUMAN ATP synthase proteolipid P1 # AltName AT5G1_HUMAN ATP synthase proton-transporting mitochondrial F(0) complex subunit C1 # AltName AT5G1_HUMAN ATPase protein 9 # AltName AT5G1_HUMAN ATPase subunit c # BioGrid 107001 8 # Ensembl ENST00000355938 ENSP00000348205; ENSG00000159199 # Ensembl ENST00000393366 ENSP00000377033; ENSG00000159199 # ExpressionAtlas P05496 baseline and differential # FUNCTION AT5G1_HUMAN Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(0) domain. A homomeric c-ring of probably 10 subunits is part of the complex rotary element. # GO_component GO:0000276 mitochondrial proton-transporting ATP synthase complex, coupling factor F(o); IBA:GO_Central. # GO_component GO:0005739 mitochondrion; IDA:LIFEdb. # GO_component GO:0005743 mitochondrial inner membrane; TAS:Reactome. # GO_component GO:0005753 mitochondrial proton-transporting ATP synthase complex; ISS:UniProtKB. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0005215 transporter activity; NAS:ProtInc. # GO_function GO:0008289 lipid binding; IEA:UniProtKB-KW. # GO_function GO:0046933 proton-transporting ATP synthase activity, rotational mechanism; IBA:GO_Central. # GO_process GO:0006754 ATP biosynthetic process; TAS:Reactome. # GO_process GO:0015986 ATP synthesis coupled proton transport; IBA:GO_Central. # GO_process GO:0015991 ATP hydrolysis coupled proton transport; IEA:InterPro. # GO_process GO:0042776 mitochondrial ATP synthesis coupled proton transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005739 mitochondrion # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0008289 lipid binding # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0044281 small molecule metabolic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.20.20.10 -; 1. # Genevisible P05496 HS # HAMAP MF_01396 ATP_synth_c_bact # HGNC HGNC:841 ATP5G1 # INTERACTION AT5G1_HUMAN Q86WT6 TRIM69; NbExp=3; IntAct=EBI-10194585, EBI-749955; # InterPro IPR000454 ATP_synth_F0_csu # InterPro IPR002379 ATPase_proteolipid_c-like_dom # InterPro IPR020537 ATP_synth_F0_csu_DDCD_BS # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Brite ko01000 Enzymes # KEGG_Pathway ko00190 Oxidative phosphorylation # KEGG_Pathway ko05010 Alzheimer's disease # KEGG_Pathway ko05012 Parkinson's disease # KEGG_Pathway ko05016 Huntington's disease # MIM 603192 gene # MISCELLANEOUS AT5G1_HUMAN There are three genes which encode the mitochondrial ATP synthase proteolipid and they specify precursors with different import sequences but identical mature proteins. Is the major protein stored in the storage bodies of animals or humans affected with ceroid lipofuscinosis (Batten disease). # Organism AT5G1_HUMAN Homo sapiens (Human) # PIR S34066 S34066 # PRINTS PR00124 ATPASEC # PROSITE PS00605 ATPASE_C # Pfam PF00137 ATP-synt_C # Proteomes UP000005640 Chromosome 17 # Reactome R-HSA-1268020 Mitochondrial protein import # Reactome R-HSA-163210 Formation of ATP by chemiosmotic coupling # RecName AT5G1_HUMAN ATP synthase F(0) complex subunit C1, mitochondrial # RefSeq NP_001002027 NM_001002027.1 # RefSeq NP_005166 NM_005175.2 # SIMILARITY Belongs to the ATPase C chain family. {ECO 0000305}. # SUBCELLULAR LOCATION AT5G1_HUMAN Mitochondrion membrane; Multi-pass membrane protein. # SUBUNIT F-type ATPases have 2 components, CF(1) - the catalytic core - and CF(0) - the membrane proton channel. CF(1) has five subunits: alpha(3), beta(3), gamma(1), delta(1), epsilon(1). CF(0) has three main subunits a, b and c. Component of an ATP synthase complex composed of ATP5F1, ATP5G1, ATP5E, ATP5H, ATP5I, ATP5J, ATP5J2, MT-ATP6, MT-ATP8, ATP5A1, ATP5B, ATP5D, ATP5C1, ATP5O, ATP5L, USMG5 and MP68 (By similarity). {ECO:0000250}. # SUPFAM SSF81333 SSF81333 # eggNOG COG0636 LUCA # eggNOG KOG3025 Eukaryota BLAST swissprot:AT5G1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:AT5G1_HUMAN BioCyc ZFISH:ENSG00000159199-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000159199-MONOMER COG COG0636 http://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=COG0636 COXPRESdb 516 http://coxpresdb.jp/data/gene/516.shtml CleanEx HS_ATP5G1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ATP5G1 DOI 10.1016/0006-291X(87)91446-X http://dx.doi.org/10.1016/0006-291X(87)91446-X DOI 10.1016/0167-4781(93)90249-D http://dx.doi.org/10.1016/0167-4781(93)90249-D DOI 10.1042/bj2930051 http://dx.doi.org/10.1042/bj2930051 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1101/gr.GR1547R http://dx.doi.org/10.1101/gr.GR1547R EMBL AL080089 http://www.ebi.ac.uk/ena/data/view/AL080089 EMBL BC004963 http://www.ebi.ac.uk/ena/data/view/BC004963 EMBL BT007230 http://www.ebi.ac.uk/ena/data/view/BT007230 EMBL D13118 http://www.ebi.ac.uk/ena/data/view/D13118 EMBL M16453 http://www.ebi.ac.uk/ena/data/view/M16453 EMBL X69907 http://www.ebi.ac.uk/ena/data/view/X69907 Ensembl ENST00000355938 http://www.ensembl.org/id/ENST00000355938 Ensembl ENST00000393366 http://www.ensembl.org/id/ENST00000393366 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000276 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000276 GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0005753 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005753 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005215 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005215 GO_function GO:0008289 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008289 GO_function GO:0046933 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046933 GO_process GO:0006754 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006754 GO_process GO:0015986 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015986 GO_process GO:0015991 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015991 GO_process GO:0042776 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042776 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0008289 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008289 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.20.20.10 http://www.cathdb.info/version/latest/superfamily/1.20.20.10 GeneCards ATP5G1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ATP5G1 GeneID 516 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=516 GeneTree ENSGT00390000006210 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000006210 HAMAP MF_01396 http://hamap.expasy.org/unirule/MF_01396 HGNC HGNC:841 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:841 HOGENOM HOG000235246 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000235246&db=HOGENOM6 HOVERGEN HBG050605 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050605&db=HOVERGEN HPA CAB004438 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB004438 InParanoid P05496 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P05496 IntAct P05496 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P05496* InterPro IPR000454 http://www.ebi.ac.uk/interpro/entry/IPR000454 InterPro IPR002379 http://www.ebi.ac.uk/interpro/entry/IPR002379 InterPro IPR020537 http://www.ebi.ac.uk/interpro/entry/IPR020537 Jabion 516 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=516 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00002 http://www.genome.jp/dbget-bin/www_bget?ko00002 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Gene hsa:516 http://www.genome.jp/dbget-bin/www_bget?hsa:516 KEGG_Orthology KO:K02128 http://www.genome.jp/dbget-bin/www_bget?KO:K02128 KEGG_Pathway ko00190 http://www.genome.jp/kegg-bin/show_pathway?ko00190 KEGG_Pathway ko05010 http://www.genome.jp/kegg-bin/show_pathway?ko05010 KEGG_Pathway ko05012 http://www.genome.jp/kegg-bin/show_pathway?ko05012 KEGG_Pathway ko05016 http://www.genome.jp/kegg-bin/show_pathway?ko05016 MIM 603192 http://www.ncbi.nlm.nih.gov/omim/603192 OMA PPALIRC http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=PPALIRC OrthoDB EOG091G13J1 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G13J1 PRINTS PR00124 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00124 PROSITE PS00605 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00605 PSORT swissprot:AT5G1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:AT5G1_HUMAN PSORT-B swissprot:AT5G1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:AT5G1_HUMAN PSORT2 swissprot:AT5G1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:AT5G1_HUMAN Pfam PF00137 http://pfam.xfam.org/family/PF00137 PharmGKB PA25131 http://www.pharmgkb.org/do/serve?objId=PA25131&objCls=Gene Phobius swissprot:AT5G1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:AT5G1_HUMAN PhylomeDB P05496 http://phylomedb.org/?seqid=P05496 ProteinModelPortal P05496 http://www.proteinmodelportal.org/query/uniprot/P05496 PubMed 11230166 http://www.ncbi.nlm.nih.gov/pubmed/11230166 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 2883974 http://www.ncbi.nlm.nih.gov/pubmed/2883974 PubMed 8328972 http://www.ncbi.nlm.nih.gov/pubmed/8328972 PubMed 8485160 http://www.ncbi.nlm.nih.gov/pubmed/8485160 Reactome R-HSA-1268020 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1268020 Reactome R-HSA-163210 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-163210 RefSeq NP_001002027 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001002027 RefSeq NP_005166 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_005166 STRING 9606.ENSP00000348205 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000348205&targetmode=cogs STRING COG0636 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=COG0636&targetmode=cogs SUPFAM SSF81333 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81333 UniGene Hs.80986 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.80986 UniProtKB AT5G1_HUMAN http://www.uniprot.org/uniprot/AT5G1_HUMAN UniProtKB-AC P05496 http://www.uniprot.org/uniprot/P05496 charge swissprot:AT5G1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:AT5G1_HUMAN eggNOG COG0636 http://eggnogapi.embl.de/nog_data/html/tree/COG0636 eggNOG KOG3025 http://eggnogapi.embl.de/nog_data/html/tree/KOG3025 epestfind swissprot:AT5G1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:AT5G1_HUMAN garnier swissprot:AT5G1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:AT5G1_HUMAN helixturnhelix swissprot:AT5G1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:AT5G1_HUMAN hmoment swissprot:AT5G1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:AT5G1_HUMAN iep swissprot:AT5G1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:AT5G1_HUMAN inforesidue swissprot:AT5G1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:AT5G1_HUMAN neXtProt NX_P05496 http://www.nextprot.org/db/entry/NX_P05496 octanol swissprot:AT5G1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:AT5G1_HUMAN pepcoil swissprot:AT5G1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:AT5G1_HUMAN pepdigest swissprot:AT5G1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:AT5G1_HUMAN pepinfo swissprot:AT5G1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:AT5G1_HUMAN pepnet swissprot:AT5G1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:AT5G1_HUMAN pepstats swissprot:AT5G1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:AT5G1_HUMAN pepwheel swissprot:AT5G1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:AT5G1_HUMAN pepwindow swissprot:AT5G1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:AT5G1_HUMAN sigcleave swissprot:AT5G1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:AT5G1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS NCKX6_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q6J4K2-1; Sequence=Displayed; Name=2; Synonyms=S-NCLX; IsoId=Q6J4K2-2; Sequence=VSP_016996; # AltName NCKX6_HUMAN Na(+)/K(+)/Ca(2+)-exchange protein 6 # AltName NCKX6_HUMAN Sodium/calcium exchanger protein, mitochondrial # AltName NCKX6_HUMAN Solute carrier family 24 member 6 # AltName NCKX6_HUMAN Solute carrier family 8 member B1 # CCDS CCDS31909 -. [Q6J4K2-1] # CCDS CCDS81744 -. [Q6J4K2-2] # ChiTaRS SLC8B1 human # ENZYME REGULATION NCKX6_HUMAN Strongly inhibited by zinc. # Ensembl ENST00000202831 ENSP00000202831; ENSG00000089060. [Q6J4K2-1] # Ensembl ENST00000546737 ENSP00000450081; ENSG00000089060. [Q6J4K2-2] # Ensembl ENST00000552014 ENSP00000447091; ENSG00000089060. [Q6J4K2-1] # ExpressionAtlas Q6J4K2 baseline and differential # FUNCTION NCKX6_HUMAN Mitochondrial sodium/calcium antiporter that mediates sodium-dependent calcium efflux from mitochondrion, thereby acting as a key regulator of mitochondrion calcium homeostasis. Regulates rates of glucose-dependent insulin secretion in pancreatic beta- cells during the first phase of insulin secretion acts by mediating efflux of calcium from mitochondrion, thereby affecting cytoplasmic calcium responses. Able to transport Ca(2+) in exchange of either Li(+) or Na(+), explaining how Li(+) catalyzes Ca(2+) exchange. In contrast to other members of the family its function is independent of K(+). {ECO 0000269|PubMed 15060069, ECO 0000269|PubMed 20018762, ECO 0000269|PubMed 22829870, ECO 0000269|PubMed 23056385}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0030061 mitochondrial crista; IDA:BHF-UCL. # GO_component GO:0032592 integral component of mitochondrial membrane; IDA:UniProtKB. # GO_component GO:0042383 sarcolemma; IEA:Ensembl. # GO_function GO:0042803 protein homodimerization activity; IPI:BHF-UCL. # GO_function NCKX6_HUMAN GO 0005432 calcium sodium antiporter activity; IDA UniProtKB. # GO_function NCKX6_HUMAN GO 0015368 calcium cation antiporter activity; TAS Reactome. # GO_function NCKX6_HUMAN GO 0086038 calcium sodium antiporter activity involved in regulation of cardiac muscle cell membrane potential; TAS BHF-UCL. # GO_process GO:0006811 ion transport; TAS:Reactome. # GO_process GO:0006851 mitochondrial calcium ion transport; IDA:UniProtKB. # GO_process GO:0042593 glucose homeostasis; IDA:UniProtKB. # GO_process GO:0050796 regulation of insulin secretion; IDA:UniProtKB. # GO_process GO:0050896 response to stimulus; IEA:UniProtKB-KW. # GO_process GO:0051480 regulation of cytosolic calcium ion concentration; IMP:BHF-UCL. # GO_process GO:0051560 mitochondrial calcium ion homeostasis; IMP:BHF-UCL. # GO_process GO:0086036 regulation of cardiac muscle cell membrane potential; TAS:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # Genevisible Q6J4K2 HS # HGNC HGNC:26175 SLC8B1 # InterPro IPR004837 NaCa_Exmemb # KEGG_Brite ko02001 Solute carrier family # MIM 609841 gene # Organism NCKX6_HUMAN Homo sapiens (Human) # Pfam PF01699 Na_Ca_ex; 2 # Proteomes UP000005640 Chromosome 12 # Reactome R-HSA-425561 Sodium/Calcium exchangers # RecName NCKX6_HUMAN Sodium/potassium/calcium exchanger 6, mitochondrial # RefSeq NP_001317395 NM_001330466.1 # RefSeq NP_079235 NM_024959.3. [Q6J4K2-1] # RefSeq XP_006719670 XM_006719607.2 # RefSeq XP_011537051 XM_011538749.2. [Q6J4K2-1] # RefSeq XP_011537054 XM_011538752.2 # SEQUENCE CAUTION Sequence=BAB15271.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the Ca(2+):cation antiporter (CaCA) (TC 2.A.19) family. SLC24A subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION NCKX6_HUMAN Mitochondrion inner membrane {ECO 0000269|PubMed 20018762}; Multi-pass membrane protein {ECO 0000269|PubMed 20018762}. # TCDB 2.A.19.4:the ca(2+) cation antiporter (caca) family # TISSUE SPECIFICITY Present in pancreatic beta-cells (at protein level). {ECO:0000269|PubMed 23056385}. # UCSC uc001tvc human. [Q6J4K2-1] # eggNOG COG0530 LUCA # eggNOG KOG2399 Eukaryota BLAST swissprot:NCKX6_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:NCKX6_HUMAN COXPRESdb 80024 http://coxpresdb.jp/data/gene/80024.shtml CleanEx HS_SLC24A6 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC24A6 DOI 10.1038/nature04569 http://dx.doi.org/10.1038/nature04569 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.0908099107 http://dx.doi.org/10.1073/pnas.0908099107 DOI 10.1074/jbc.M401229200 http://dx.doi.org/10.1074/jbc.M401229200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1371/journal.pone.0039722 http://dx.doi.org/10.1371/journal.pone.0039722 DOI 10.1371/journal.pone.0046649 http://dx.doi.org/10.1371/journal.pone.0046649 EMBL AC010178 http://www.ebi.ac.uk/ena/data/view/AC010178 EMBL AK025886 http://www.ebi.ac.uk/ena/data/view/AK025886 EMBL AY601759 http://www.ebi.ac.uk/ena/data/view/AY601759 EMBL AY601760 http://www.ebi.ac.uk/ena/data/view/AY601760 EMBL BC098360 http://www.ebi.ac.uk/ena/data/view/BC098360 EMBL CH471054 http://www.ebi.ac.uk/ena/data/view/CH471054 Ensembl ENST00000202831 http://www.ensembl.org/id/ENST00000202831 Ensembl ENST00000546737 http://www.ensembl.org/id/ENST00000546737 Ensembl ENST00000552014 http://www.ensembl.org/id/ENST00000552014 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0030061 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030061 GO_component GO:0032592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032592 GO_component GO:0042383 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042383 GO_function GO:0005432 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005432 GO_function GO:0015368 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015368 GO_function GO:0042803 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042803 GO_function GO:0086038 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086038 GO_process GO:0006811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006811 GO_process GO:0006851 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006851 GO_process GO:0042593 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042593 GO_process GO:0050796 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050796 GO_process GO:0050896 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050896 GO_process GO:0051480 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051480 GO_process GO:0051560 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051560 GO_process GO:0086036 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086036 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GeneCards SLC8B1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC8B1 GeneID 80024 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=80024 GeneTree ENSGT00760000119209 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119209 H-InvDB HIX0171623 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0171623 HGNC HGNC:26175 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:26175 HOGENOM HOG000113743 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000113743&db=HOGENOM6 HOVERGEN HBG082009 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG082009&db=HOVERGEN HPA HPA040668 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA040668 InParanoid Q6J4K2 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q6J4K2 IntAct Q6J4K2 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q6J4K2* InterPro IPR004837 http://www.ebi.ac.uk/interpro/entry/IPR004837 Jabion 80024 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=80024 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:80024 http://www.genome.jp/dbget-bin/www_bget?hsa:80024 KEGG_Orthology KO:K13754 http://www.genome.jp/dbget-bin/www_bget?KO:K13754 MIM 609841 http://www.ncbi.nlm.nih.gov/omim/609841 OMA ISRGHTE http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=ISRGHTE OrthoDB EOG091G05GE http://cegg.unige.ch/orthodb/results?searchtext=EOG091G05GE PSORT swissprot:NCKX6_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:NCKX6_HUMAN PSORT-B swissprot:NCKX6_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:NCKX6_HUMAN PSORT2 swissprot:NCKX6_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:NCKX6_HUMAN Pfam PF01699 http://pfam.xfam.org/family/PF01699 PharmGKB PA134954965 http://www.pharmgkb.org/do/serve?objId=PA134954965&objCls=Gene Phobius swissprot:NCKX6_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:NCKX6_HUMAN PhylomeDB Q6J4K2 http://phylomedb.org/?seqid=Q6J4K2 ProteinModelPortal Q6J4K2 http://www.proteinmodelportal.org/query/uniprot/Q6J4K2 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15060069 http://www.ncbi.nlm.nih.gov/pubmed/15060069 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16541075 http://www.ncbi.nlm.nih.gov/pubmed/16541075 PubMed 20018762 http://www.ncbi.nlm.nih.gov/pubmed/20018762 PubMed 22829870 http://www.ncbi.nlm.nih.gov/pubmed/22829870 PubMed 23056385 http://www.ncbi.nlm.nih.gov/pubmed/23056385 Reactome R-HSA-425561 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-425561 RefSeq NP_001317395 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001317395 RefSeq NP_079235 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_079235 RefSeq XP_006719670 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006719670 RefSeq XP_011537051 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011537051 RefSeq XP_011537054 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011537054 STRING 9606.ENSP00000202831 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000202831&targetmode=cogs TCDB 2.A.19.4 http://www.tcdb.org/search/result.php?tc=2.A.19.4 UCSC uc001tvc http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001tvc&org=rat UniGene Hs.286194 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.286194 UniProtKB NCKX6_HUMAN http://www.uniprot.org/uniprot/NCKX6_HUMAN UniProtKB-AC Q6J4K2 http://www.uniprot.org/uniprot/Q6J4K2 charge swissprot:NCKX6_HUMAN http://rest.g-language.org/emboss/charge/swissprot:NCKX6_HUMAN eggNOG COG0530 http://eggnogapi.embl.de/nog_data/html/tree/COG0530 eggNOG KOG2399 http://eggnogapi.embl.de/nog_data/html/tree/KOG2399 epestfind swissprot:NCKX6_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:NCKX6_HUMAN garnier swissprot:NCKX6_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:NCKX6_HUMAN helixturnhelix swissprot:NCKX6_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:NCKX6_HUMAN hmoment swissprot:NCKX6_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:NCKX6_HUMAN iep swissprot:NCKX6_HUMAN http://rest.g-language.org/emboss/iep/swissprot:NCKX6_HUMAN inforesidue swissprot:NCKX6_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:NCKX6_HUMAN neXtProt NX_Q6J4K2 http://www.nextprot.org/db/entry/NX_Q6J4K2 octanol swissprot:NCKX6_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:NCKX6_HUMAN pepcoil swissprot:NCKX6_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:NCKX6_HUMAN pepdigest swissprot:NCKX6_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:NCKX6_HUMAN pepinfo swissprot:NCKX6_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:NCKX6_HUMAN pepnet swissprot:NCKX6_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:NCKX6_HUMAN pepstats swissprot:NCKX6_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:NCKX6_HUMAN pepwheel swissprot:NCKX6_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:NCKX6_HUMAN pepwindow swissprot:NCKX6_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:NCKX6_HUMAN sigcleave swissprot:NCKX6_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:NCKX6_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS LAT4_HUMAN Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q8N370-1; Sequence=Displayed; Name=2; IsoId=Q8N370-2; Sequence=VSP_028665, VSP_028666; Name=3; IsoId=Q8N370-3; Sequence=VSP_028664; Name=4; IsoId=Q8N370-4; Sequence=VSP_055373, VSP_055374; Note=No experimental confirmation available.; # AltName LAT4_HUMAN L-type amino acid transporter 4 # AltName LAT4_HUMAN Solute carrier family 43 member 2 # BioGrid 125901 3 # CCDS CCDS11006 -. [Q8N370-1] # CCDS CCDS67107 -. [Q8N370-4] # CCDS CCDS67108 -. [Q8N370-3] # CDD cd06174 MFS # ChiTaRS SLC43A2 human # Ensembl ENST00000301335 ENSP00000301335; ENSG00000167703. [Q8N370-1] # Ensembl ENST00000382147 ENSP00000371582; ENSG00000278550. [Q8N370-4] # Ensembl ENST00000412517 ENSP00000408284; ENSG00000167703. [Q8N370-4] # Ensembl ENST00000571650 ENSP00000461382; ENSG00000167703. [Q8N370-3] # Ensembl ENST00000612931 ENSP00000483848; ENSG00000278550. [Q8N370-3] # Ensembl ENST00000613070 ENSP00000484291; ENSG00000278550. [Q8N370-3] # Ensembl ENST00000634102 ENSP00000488355; ENSG00000278550. [Q8N370-1] # ExpressionAtlas Q8N370 baseline and differential # FUNCTION LAT4_HUMAN Sodium-, chloride-, and pH-independent high affinity transport of large neutral amino acids. {ECO 0000269|PubMed 15659399}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_function GO:0015171 amino acid transmembrane transporter activity; TAS:Reactome. # GO_function GO:0015175 neutral amino acid transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015179 L-amino acid transmembrane transporter activity; IBA:GO_Central. # GO_process GO:0006865 amino acid transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # Genevisible Q8N370 HS # HGNC HGNC:23087 SLC43A2 # IntAct Q8N370 3 # InterPro IPR011701 MFS # InterPro IPR020846 MFS_dom # InterPro IPR027201 LAT4 # KEGG_Brite ko02000 Transporters # KEGG_Brite ko02001 Solute carrier family # MIM 610791 gene # Organism LAT4_HUMAN Homo sapiens (Human) # PANTHER PTHR20766:SF2 PTHR20766:SF2 # PTM LAT4_HUMAN Glycosylated. {ECO 0000250}. # Pfam PF07690 MFS_1 # Proteomes UP000005640 Chromosome 17 # Reactome R-HSA-352230 Amino acid transport across the plasma membrane # RecName LAT4_HUMAN Large neutral amino acids transporter small subunit 4 # RefSeq NP_001271427 NM_001284498.1. [Q8N370-3] # RefSeq NP_001271428 NM_001284499.1. [Q8N370-4] # RefSeq NP_001308293 NM_001321364.1. [Q8N370-3] # RefSeq NP_001308294 NM_001321365.1. [Q8N370-3] # RefSeq NP_689559 NM_152346.2. [Q8N370-1] # RefSeq XP_016879666 XM_017024177.1. [Q8N370-1] # RefSeq XP_016879667 XM_017024178.1. [Q8N370-1] # SEQUENCE CAUTION Sequence=BAC11383.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAC11450.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the SLC43A transporter (TC 2.A.1.44) family. {ECO 0000305}. # SUBCELLULAR LOCATION LAT4_HUMAN Membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. # SUPFAM SSF103473 SSF103473; 3 # TCDB 2.A.1.44 the major facilitator superfamily (mfs) # TISSUE SPECIFICITY Detected in several tissues with higher expression in placenta, kidney and peripheral blood leukocytes. In the kidney, is detected in epithelial cells of the distal tubule and collecting duct. In the intestine, is expressed mainly in crypt cells of the intestinal microvilli and epithelial cells in the base of the villus. {ECO:0000269|PubMed 15659399}. # UCSC uc002fsu human. [Q8N370-1] # eggNOG ENOG410IHJQ Eukaryota # eggNOG ENOG410XS1N LUCA BLAST swissprot:LAT4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:LAT4_HUMAN BioCyc ZFISH:ENSG00000167703-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000167703-MONOMER COXPRESdb 124935 http://coxpresdb.jp/data/gene/124935.shtml CleanEx HS_SLC43A2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC43A2 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature04689 http://dx.doi.org/10.1038/nature04689 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.0404089101 http://dx.doi.org/10.1073/pnas.0404089101 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1074/jbc.M408638200 http://dx.doi.org/10.1074/jbc.M408638200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AB120364 http://www.ebi.ac.uk/ena/data/view/AB120364 EMBL AC100748 http://www.ebi.ac.uk/ena/data/view/AC100748 EMBL AC130343 http://www.ebi.ac.uk/ena/data/view/AC130343 EMBL AF289592 http://www.ebi.ac.uk/ena/data/view/AF289592 EMBL AK075068 http://www.ebi.ac.uk/ena/data/view/AK075068 EMBL AK075173 http://www.ebi.ac.uk/ena/data/view/AK075173 EMBL AK301127 http://www.ebi.ac.uk/ena/data/view/AK301127 EMBL BC027923 http://www.ebi.ac.uk/ena/data/view/BC027923 EMBL BC071859 http://www.ebi.ac.uk/ena/data/view/BC071859 EMBL BK005642 http://www.ebi.ac.uk/ena/data/view/BK005642 EMBL CH471108 http://www.ebi.ac.uk/ena/data/view/CH471108 EMBL CH471108 http://www.ebi.ac.uk/ena/data/view/CH471108 EMBL CH471108 http://www.ebi.ac.uk/ena/data/view/CH471108 EMBL CH471108 http://www.ebi.ac.uk/ena/data/view/CH471108 Ensembl ENST00000301335 http://www.ensembl.org/id/ENST00000301335 Ensembl ENST00000382147 http://www.ensembl.org/id/ENST00000382147 Ensembl ENST00000412517 http://www.ensembl.org/id/ENST00000412517 Ensembl ENST00000571650 http://www.ensembl.org/id/ENST00000571650 Ensembl ENST00000612931 http://www.ensembl.org/id/ENST00000612931 Ensembl ENST00000613070 http://www.ensembl.org/id/ENST00000613070 Ensembl ENST00000634102 http://www.ensembl.org/id/ENST00000634102 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0015171 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015171 GO_function GO:0015175 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015175 GO_function GO:0015179 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015179 GO_process GO:0006865 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006865 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GeneCards SLC43A2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC43A2 GeneID 124935 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=124935 GeneTree ENSGT00530000063043 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000063043 H-InvDB HIX0017704 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0017704 H-InvDB HIX0039573 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0039573 HGNC HGNC:23087 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:23087 HOGENOM HOG000231937 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231937&db=HOGENOM6 HOVERGEN HBG072879 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG072879&db=HOVERGEN HPA HPA021564 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA021564 InParanoid Q8N370 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8N370 IntAct Q8N370 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q8N370* InterPro IPR011701 http://www.ebi.ac.uk/interpro/entry/IPR011701 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 InterPro IPR027201 http://www.ebi.ac.uk/interpro/entry/IPR027201 Jabion 124935 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=124935 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:124935 http://www.genome.jp/dbget-bin/www_bget?hsa:124935 KEGG_Orthology KO:K08229 http://www.genome.jp/dbget-bin/www_bget?KO:K08229 MIM 610791 http://www.ncbi.nlm.nih.gov/omim/610791 MINT MINT-4724578 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-4724578 OMA FYSYLCK http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=FYSYLCK OrthoDB EOG091G0407 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0407 PANTHER PTHR20766:SF2 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR20766:SF2 PSORT swissprot:LAT4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:LAT4_HUMAN PSORT-B swissprot:LAT4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:LAT4_HUMAN PSORT2 swissprot:LAT4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:LAT4_HUMAN Pfam PF07690 http://pfam.xfam.org/family/PF07690 PharmGKB PA134940765 http://www.pharmgkb.org/do/serve?objId=PA134940765&objCls=Gene Phobius swissprot:LAT4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:LAT4_HUMAN PhylomeDB Q8N370 http://phylomedb.org/?seqid=Q8N370 ProteinModelPortal Q8N370 http://www.proteinmodelportal.org/query/uniprot/Q8N370 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15498874 http://www.ncbi.nlm.nih.gov/pubmed/15498874 PubMed 15659399 http://www.ncbi.nlm.nih.gov/pubmed/15659399 PubMed 16625196 http://www.ncbi.nlm.nih.gov/pubmed/16625196 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 Reactome R-HSA-352230 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-352230 RefSeq NP_001271427 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001271427 RefSeq NP_001271428 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001271428 RefSeq NP_001308293 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001308293 RefSeq NP_001308294 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001308294 RefSeq NP_689559 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_689559 RefSeq XP_016879666 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016879666 RefSeq XP_016879667 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016879667 STRING 9606.ENSP00000301335 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000301335&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.1.44 http://www.tcdb.org/search/result.php?tc=2.A.1.44 UCSC uc002fsu http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002fsu&org=rat UniGene Hs.160550 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.160550 UniGene Hs.656337 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.656337 UniGene Hs.732271 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.732271 UniProtKB LAT4_HUMAN http://www.uniprot.org/uniprot/LAT4_HUMAN UniProtKB-AC Q8N370 http://www.uniprot.org/uniprot/Q8N370 charge swissprot:LAT4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:LAT4_HUMAN eggNOG ENOG410IHJQ http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IHJQ eggNOG ENOG410XS1N http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XS1N epestfind swissprot:LAT4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:LAT4_HUMAN garnier swissprot:LAT4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:LAT4_HUMAN helixturnhelix swissprot:LAT4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:LAT4_HUMAN hmoment swissprot:LAT4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:LAT4_HUMAN iep swissprot:LAT4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:LAT4_HUMAN inforesidue swissprot:LAT4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:LAT4_HUMAN neXtProt NX_Q8N370 http://www.nextprot.org/db/entry/NX_Q8N370 octanol swissprot:LAT4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:LAT4_HUMAN pepcoil swissprot:LAT4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:LAT4_HUMAN pepdigest swissprot:LAT4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:LAT4_HUMAN pepinfo swissprot:LAT4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:LAT4_HUMAN pepnet swissprot:LAT4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:LAT4_HUMAN pepstats swissprot:LAT4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:LAT4_HUMAN pepwheel swissprot:LAT4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:LAT4_HUMAN pepwindow swissprot:LAT4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:LAT4_HUMAN sigcleave swissprot:LAT4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:LAT4_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS AP4B1_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9Y6B7-1; Sequence=Displayed; Name=2; IsoId=Q9Y6B7-2; Sequence=VSP_055787, VSP_055788, VSP_055789; Note=No experimental confirmation available.; # AltName AP4B1_HUMAN AP-4 adaptor complex subunit beta # AltName AP4B1_HUMAN Adaptor-related protein complex 4 subunit beta-1 # AltName AP4B1_HUMAN Beta subunit of AP-4 # AltName AP4B1_HUMAN Beta4-adaptin # BioGrid 115943 8 # CCDS CCDS865 -. [Q9Y6B7-1] # DISEASE AP4B1_HUMAN Spastic paraplegia 47, autosomal recessive (SPG47) [MIM 614066] A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. SPG47 is characterized by neonatal hypotonia that progresses to hypertonia and spasticity, and severe mental retardation with poor or absent speech development. {ECO 0000269|PubMed 21620353}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000256658 ENSP00000256658; ENSG00000134262. [Q9Y6B7-1] # Ensembl ENST00000369569 ENSP00000358582; ENSG00000134262. [Q9Y6B7-1] # ExpressionAtlas Q9Y6B7 baseline and differential # FUNCTION AP4B1_HUMAN Subunit of novel type of clathrin- or non-clathrin- associated protein coat involved in targeting proteins from the trans-Golgi network (TGN) to the endosomal-lysosomal system. # GO_component GO:0005802 trans-Golgi network; TAS:ProtInc. # GO_component GO:0005905 clathrin-coated pit; IEA:UniProtKB-SubCell. # GO_component GO:0030131 clathrin adaptor complex; IEA:InterPro. # GO_component GO:0031904 endosome lumen; TAS:Reactome. # GO_component GO:0032588 trans-Golgi network membrane; TAS:Reactome. # GO_function GO:0005215 transporter activity; TAS:ProtInc. # GO_function GO:0008565 protein transporter activity; IEA:InterPro. # GO_process GO:0006886 intracellular protein transport; IEA:InterPro. # GO_process GO:0016192 vesicle-mediated transport; IEA:InterPro. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0008565 protein transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0016192 vesicle-mediated transport # Gene3D 1.25.10.10 -; 1. # Gene3D 3.30.310.10 -; 1. # Genevisible Q9Y6B7 HS # HGNC HGNC:572 AP4B1 # INTERACTION AP4B1_HUMAN Q9H609 ZNF576; NbExp=5; IntAct=EBI-1047606, EBI-3921014; # IntAct Q9Y6B7 8 # InterPro IPR002553 Clathrin/coatomer_adapt-like_N # InterPro IPR011989 ARM-like # InterPro IPR012295 Beta2_adaptin/TBP_C_dom # InterPro IPR015151 B-adaptin_app_sub_C # InterPro IPR016024 ARM-type_fold # InterPro IPR016342 AP_complex_bsu_1_2_4 # InterPro IPR026739 AP_beta # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Disease H01097 [Nervous system disease] Cerebral palsy # KEGG_Pathway ko04142 Lysosome # MIM 607245 gene # MIM 614066 phenotype # Organism AP4B1_HUMAN Homo sapiens (Human) # Orphanet 280763 Severe intellectual disability and progressive spastic paraplegia # PANTHER PTHR11134 PTHR11134 # PDB 2MJ7 NMR; -; A=610-739 # PIRSF PIRSF002291 AP_complex_beta # Pfam PF01602 Adaptin_N # Pfam PF09066 B2-adapt-app_C # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-432720 Lysosome Vesicle Biogenesis # Reactome R-HSA-432722 Golgi Associated Vesicle Biogenesis # RecName AP4B1_HUMAN AP-4 complex subunit beta-1 # RefSeq NP_001240781 NM_001253852.2. [Q9Y6B7-1] # RefSeq NP_001240782 NM_001253853.2 # RefSeq NP_001295241 NM_001308312.1 # RefSeq NP_006585 NM_006594.4. [Q9Y6B7-1] # SEQUENCE CAUTION Sequence=BAD93054.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the adaptor complexes large subunit family. {ECO 0000305}. # SMART SM01020 B2-adapt-app_C # SUBCELLULAR LOCATION AP4B1_HUMAN Golgi apparatus, trans-Golgi network {ECO 0000269|PubMed 22472443}. Membrane, coated pit {ECO 0000250}. Note=Associated with the trans-Golgi network. Found in soma and dendritic shafts of neuronal cells. # SUBUNIT Adaptor protein complex 4 (AP-4) is a heterotetramer composed of two large adaptins (epsilon-type subunit AP4E1 and beta-type subunit AP4B1), a medium adaptin (mu-type subunit AP4M1) and a small adaptin (sigma-type AP4S1). Interacts with TEPSIN; this interaction requires the presence of a functional AP-4 complex. {ECO:0000269|PubMed 22472443}. # SUPFAM SSF48371 SSF48371 # TISSUE SPECIFICITY AP4B1_HUMAN Widely expressed. # UCSC uc001eeb human. [Q9Y6B7-1] # eggNOG COG5096 LUCA # eggNOG KOG1061 Eukaryota BLAST swissprot:AP4B1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:AP4B1_HUMAN BioCyc ZFISH:ENSG00000134262-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000134262-MONOMER COXPRESdb 10717 http://coxpresdb.jp/data/gene/10717.shtml CleanEx HS_AP4B1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_AP4B1 DIP DIP-24209N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-24209N DOI 10.1016/j.ajhg.2011.04.019 http://dx.doi.org/10.1016/j.ajhg.2011.04.019 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.274.11.7278 http://dx.doi.org/10.1074/jbc.274.11.7278 DOI 10.1083/jcb.201111049 http://dx.doi.org/10.1083/jcb.201111049 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AB209817 http://www.ebi.ac.uk/ena/data/view/AB209817 EMBL AF092094 http://www.ebi.ac.uk/ena/data/view/AF092094 EMBL AK298037 http://www.ebi.ac.uk/ena/data/view/AK298037 EMBL AL137856 http://www.ebi.ac.uk/ena/data/view/AL137856 EMBL BC014146 http://www.ebi.ac.uk/ena/data/view/BC014146 Ensembl ENST00000256658 http://www.ensembl.org/id/ENST00000256658 Ensembl ENST00000369569 http://www.ensembl.org/id/ENST00000369569 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005802 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005802 GO_component GO:0005905 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005905 GO_component GO:0030131 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030131 GO_component GO:0031904 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031904 GO_component GO:0032588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032588 GO_function GO:0005215 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005215 GO_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GO_process GO:0006886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006886 GO_process GO:0016192 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016192 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0016192 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016192 Gene3D 1.25.10.10 http://www.cathdb.info/version/latest/superfamily/1.25.10.10 Gene3D 3.30.310.10 http://www.cathdb.info/version/latest/superfamily/3.30.310.10 GeneCards AP4B1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=AP4B1 GeneID 10717 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=10717 GeneTree ENSGT00530000063138 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000063138 HGNC HGNC:572 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:572 HOGENOM HOG000294128 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000294128&db=HOGENOM6 HOVERGEN HBG050521 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050521&db=HOVERGEN HPA HPA028162 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA028162 HPA HPA028399 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA028399 HPA HPA028652 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA028652 InParanoid Q9Y6B7 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9Y6B7 IntAct Q9Y6B7 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9Y6B7* InterPro IPR002553 http://www.ebi.ac.uk/interpro/entry/IPR002553 InterPro IPR011989 http://www.ebi.ac.uk/interpro/entry/IPR011989 InterPro IPR012295 http://www.ebi.ac.uk/interpro/entry/IPR012295 InterPro IPR015151 http://www.ebi.ac.uk/interpro/entry/IPR015151 InterPro IPR016024 http://www.ebi.ac.uk/interpro/entry/IPR016024 InterPro IPR016342 http://www.ebi.ac.uk/interpro/entry/IPR016342 InterPro IPR026739 http://www.ebi.ac.uk/interpro/entry/IPR026739 Jabion 10717 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=10717 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Disease H01097 http://www.genome.jp/dbget-bin/www_bget?H01097 KEGG_Gene hsa:10717 http://www.genome.jp/dbget-bin/www_bget?hsa:10717 KEGG_Orthology KO:K12401 http://www.genome.jp/dbget-bin/www_bget?KO:K12401 KEGG_Pathway ko04142 http://www.genome.jp/kegg-bin/show_pathway?ko04142 MIM 607245 http://www.ncbi.nlm.nih.gov/omim/607245 MIM 614066 http://www.ncbi.nlm.nih.gov/omim/614066 OMA EPGNSEM http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=EPGNSEM Orphanet 280763 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=280763 OrthoDB EOG091G058E http://cegg.unige.ch/orthodb/results?searchtext=EOG091G058E PANTHER PTHR11134 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11134 PDB 2MJ7 http://www.ebi.ac.uk/pdbe-srv/view/entry/2MJ7 PDBsum 2MJ7 http://www.ebi.ac.uk/pdbsum/2MJ7 PSORT swissprot:AP4B1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:AP4B1_HUMAN PSORT-B swissprot:AP4B1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:AP4B1_HUMAN PSORT2 swissprot:AP4B1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:AP4B1_HUMAN Pfam PF01602 http://pfam.xfam.org/family/PF01602 Pfam PF09066 http://pfam.xfam.org/family/PF09066 PharmGKB PA24864 http://www.pharmgkb.org/do/serve?objId=PA24864&objCls=Gene Phobius swissprot:AP4B1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:AP4B1_HUMAN PhylomeDB Q9Y6B7 http://phylomedb.org/?seqid=Q9Y6B7 ProteinModelPortal Q9Y6B7 http://www.proteinmodelportal.org/query/uniprot/Q9Y6B7 PubMed 10066790 http://www.ncbi.nlm.nih.gov/pubmed/10066790 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 21620353 http://www.ncbi.nlm.nih.gov/pubmed/21620353 PubMed 22472443 http://www.ncbi.nlm.nih.gov/pubmed/22472443 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 Reactome R-HSA-432720 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-432720 Reactome R-HSA-432722 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-432722 RefSeq NP_001240781 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001240781 RefSeq NP_001240782 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001240782 RefSeq NP_001295241 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001295241 RefSeq NP_006585 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_006585 SMART SM01020 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM01020 SMR Q9Y6B7 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9Y6B7 STRING 9606.ENSP00000256658 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000256658&targetmode=cogs SUPFAM SSF48371 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48371 UCSC uc001eeb http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001eeb&org=rat UniGene Hs.515048 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.515048 UniGene Hs.736555 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.736555 UniProtKB AP4B1_HUMAN http://www.uniprot.org/uniprot/AP4B1_HUMAN UniProtKB-AC Q9Y6B7 http://www.uniprot.org/uniprot/Q9Y6B7 charge swissprot:AP4B1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:AP4B1_HUMAN eggNOG COG5096 http://eggnogapi.embl.de/nog_data/html/tree/COG5096 eggNOG KOG1061 http://eggnogapi.embl.de/nog_data/html/tree/KOG1061 epestfind swissprot:AP4B1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:AP4B1_HUMAN garnier swissprot:AP4B1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:AP4B1_HUMAN helixturnhelix swissprot:AP4B1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:AP4B1_HUMAN hmoment swissprot:AP4B1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:AP4B1_HUMAN iep swissprot:AP4B1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:AP4B1_HUMAN inforesidue swissprot:AP4B1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:AP4B1_HUMAN neXtProt NX_Q9Y6B7 http://www.nextprot.org/db/entry/NX_Q9Y6B7 octanol swissprot:AP4B1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:AP4B1_HUMAN pepcoil swissprot:AP4B1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:AP4B1_HUMAN pepdigest swissprot:AP4B1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:AP4B1_HUMAN pepinfo swissprot:AP4B1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:AP4B1_HUMAN pepnet swissprot:AP4B1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:AP4B1_HUMAN pepstats swissprot:AP4B1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:AP4B1_HUMAN pepwheel swissprot:AP4B1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:AP4B1_HUMAN pepwindow swissprot:AP4B1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:AP4B1_HUMAN sigcleave swissprot:AP4B1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:AP4B1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS CAC1E_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; Synonyms=Alpha-1E; IsoId=Q15878-1; Sequence=Displayed; Name=2; Synonyms=Alpha-1E-1; IsoId=Q15878-2; Sequence=VSP_000937, VSP_024817; Name=3; Synonyms=Alpha-1E-3; IsoId=Q15878-3; Sequence=VSP_024817; # AltName CAC1E_HUMAN Brain calcium channel II # AltName CAC1E_HUMAN Calcium channel, L type, alpha-1 polypeptide, isoform 6 # AltName CAC1E_HUMAN Voltage-gated calcium channel subunit alpha Cav2.3 # BioGrid 107231 2 # CCDS CCDS53443 -. [Q15878-3] # CCDS CCDS55664 -. [Q15878-1] # CCDS CCDS55665 -. [Q15878-2] # ChiTaRS CACNA1E human # DOMAIN CAC1E_HUMAN Each of the four internal repeats contains five hydrophobic transmembrane segments (S1, S2, S3, S5, S6) and one positively charged transmembrane segment (S4). S4 segments probably represent the voltage-sensor and are characterized by a series of positively charged amino acids at every third position. # Ensembl ENST00000358338 ENSP00000351101; ENSG00000198216. [Q15878-2] # Ensembl ENST00000367567 ENSP00000356539; ENSG00000198216. [Q15878-3] # Ensembl ENST00000367570 ENSP00000356542; ENSG00000198216. [Q15878-3] # Ensembl ENST00000367573 ENSP00000356545; ENSG00000198216. [Q15878-1] # Ensembl ENST00000621551 ENSP00000483914; ENSG00000198216. [Q15878-1] # Ensembl ENST00000621791 ENSP00000481619; ENSG00000198216. [Q15878-2] # ExpressionAtlas Q15878 baseline and differential # FUNCTION CAC1E_HUMAN Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1E gives rise to R-type calcium currents. R-type calcium channels belong to the 'high-voltage activated' (HVA) group and are blocked by nickel, and partially by omega-agatoxin-IIIA (omega-Aga-IIIA). They are however insensitive to dihydropyridines (DHP), omega- conotoxin-GVIA (omega-CTx-GVIA), and omega-agatoxin-IVA (omega- Aga-IVA). Calcium channels containing alpha-1E subunit could be involved in the modulation of firing patterns of neurons which is important for information processing. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005891 voltage-gated calcium channel complex; TAS:ProtInc. # GO_function GO:0005245 voltage-gated calcium channel activity; IDA:MGI. # GO_function GO:0005262 calcium channel activity; TAS:Reactome. # GO_function GO:0005509 calcium ion binding; IEA:InterPro. # GO_function GO:0008331 high voltage-gated calcium channel activity; IBA:GO_Central. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0007268 chemical synaptic transmission; TAS:ProtInc. # GO_process GO:0050796 regulation of insulin secretion; TAS:Reactome. # GO_process GO:0051899 membrane depolarization; TAS:Reactome. # GO_process GO:0086010 membrane depolarization during action potential; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # Gene3D 1.20.120.350 -; 4. # Genevisible Q15878 HS # HGNC HGNC:1392 CACNA1E # InterPro IPR002048 EF_hand_dom # InterPro IPR002077 VDCCAlpha1 # InterPro IPR005449 VDCC_R_a1su # InterPro IPR005821 Ion_trans_dom # InterPro IPR014873 VDCC_a1su_IQ # InterPro IPR027359 Channel_four-helix_dom # InterPro IPR031649 GPHH_dom # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04010 MAPK signaling pathway # KEGG_Pathway ko04020 Calcium signaling pathway # KEGG_Pathway ko04930 Type II diabetes mellitus # MIM 601013 gene # Organism CAC1E_HUMAN Homo sapiens (Human) # PANTHER PTHR10037:SF57 PTHR10037:SF57; 3 # PDB 3BXL X-ray; 2.30 A; B=1867-1887 # PIR A54972 A54972 # PIR B54972 B54972 # PRINTS PR00167 CACHANNEL # PRINTS PR01633 RVDCCALPHA1 # PROSITE PS50222 EF_HAND_2 # Pfam PF00520 Ion_trans; 4 # Pfam PF08763 Ca_chan_IQ # Pfam PF16905 GPHH # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-112308 Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels # Reactome R-HSA-422356 Regulation of insulin secretion # RecName CAC1E_HUMAN Voltage-dependent R-type calcium channel subunit alpha-1E # RefSeq NP_000712 NM_000721.3. [Q15878-3] # RefSeq NP_001192222 NM_001205293.1. [Q15878-1] # RefSeq NP_001192223 NM_001205294.1. [Q15878-2] # SIMILARITY Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1E subfamily. {ECO 0000305}. # SIMILARITY Contains 1 EF-hand domain. {ECO:0000255|PROSITE- ProRule PRU00448}. # SMART SM01062 Ca_chan_IQ # SUBCELLULAR LOCATION CAC1E_HUMAN Membrane; Multi-pass membrane protein. # SUBUNIT CAC1E_HUMAN Interacts with EFHC1. Voltage-dependent calcium channels are multisubunit complexes, consisting of alpha-1, alpha-2, beta and delta subunits in a 1 1 1 1 ratio. The channel activity is directed by the pore-forming and voltage-sensitive alpha-1 subunit. In many cases, this subunit is sufficient to generate voltage-sensitive calcium channel activity. The auxiliary subunits beta and alpha-2/delta linked by a disulfide bridge regulate the channel activity. {ECO 0000269|PubMed 15258581}. # TISSUE SPECIFICITY CAC1E_HUMAN Expressed in neuronal tissues and in kidney. # UCSC uc001gow human. [Q15878-1] # eggNOG ENOG410INF5 Eukaryota # eggNOG ENOG410YD06 LUCA BLAST swissprot:CAC1E_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CAC1E_HUMAN BioCyc ZFISH:G66-32618-MONOMER http://biocyc.org/getid?id=ZFISH:G66-32618-MONOMER COXPRESdb 777 http://coxpresdb.jp/data/gene/777.shtml CleanEx HS_CACNA1E http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CACNA1E DOI 10.1016/j.str.2008.01.011 http://dx.doi.org/10.1016/j.str.2008.01.011 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1038/ng1393 http://dx.doi.org/10.1038/ng1393 EMBL AL160059 http://www.ebi.ac.uk/ena/data/view/AL160059 EMBL AL160059 http://www.ebi.ac.uk/ena/data/view/AL160059 EMBL AL160059 http://www.ebi.ac.uk/ena/data/view/AL160059 EMBL AL160059 http://www.ebi.ac.uk/ena/data/view/AL160059 EMBL AL160059 http://www.ebi.ac.uk/ena/data/view/AL160059 EMBL AL160059 http://www.ebi.ac.uk/ena/data/view/AL160059 EMBL AL160059 http://www.ebi.ac.uk/ena/data/view/AL160059 EMBL AL160059 http://www.ebi.ac.uk/ena/data/view/AL160059 EMBL AL160059 http://www.ebi.ac.uk/ena/data/view/AL160059 EMBL AL160059 http://www.ebi.ac.uk/ena/data/view/AL160059 EMBL AL160059 http://www.ebi.ac.uk/ena/data/view/AL160059 EMBL AL160059 http://www.ebi.ac.uk/ena/data/view/AL160059 EMBL AL161734 http://www.ebi.ac.uk/ena/data/view/AL161734 EMBL AL161734 http://www.ebi.ac.uk/ena/data/view/AL161734 EMBL AL161734 http://www.ebi.ac.uk/ena/data/view/AL161734 EMBL AL161734 http://www.ebi.ac.uk/ena/data/view/AL161734 EMBL AL161734 http://www.ebi.ac.uk/ena/data/view/AL161734 EMBL AL161734 http://www.ebi.ac.uk/ena/data/view/AL161734 EMBL AL161734 http://www.ebi.ac.uk/ena/data/view/AL161734 EMBL AL161734 http://www.ebi.ac.uk/ena/data/view/AL161734 EMBL AL161734 http://www.ebi.ac.uk/ena/data/view/AL161734 EMBL AL161734 http://www.ebi.ac.uk/ena/data/view/AL161734 EMBL AL161734 http://www.ebi.ac.uk/ena/data/view/AL161734 EMBL AL161734 http://www.ebi.ac.uk/ena/data/view/AL161734 EMBL AL359270 http://www.ebi.ac.uk/ena/data/view/AL359270 EMBL AL359270 http://www.ebi.ac.uk/ena/data/view/AL359270 EMBL AL359270 http://www.ebi.ac.uk/ena/data/view/AL359270 EMBL AL359270 http://www.ebi.ac.uk/ena/data/view/AL359270 EMBL AL359270 http://www.ebi.ac.uk/ena/data/view/AL359270 EMBL AL359270 http://www.ebi.ac.uk/ena/data/view/AL359270 EMBL AL359270 http://www.ebi.ac.uk/ena/data/view/AL359270 EMBL AL359270 http://www.ebi.ac.uk/ena/data/view/AL359270 EMBL AL359270 http://www.ebi.ac.uk/ena/data/view/AL359270 EMBL AL359270 http://www.ebi.ac.uk/ena/data/view/AL359270 EMBL AL359270 http://www.ebi.ac.uk/ena/data/view/AL359270 EMBL AL359270 http://www.ebi.ac.uk/ena/data/view/AL359270 EMBL AL590998 http://www.ebi.ac.uk/ena/data/view/AL590998 EMBL AL590998 http://www.ebi.ac.uk/ena/data/view/AL590998 EMBL AL590998 http://www.ebi.ac.uk/ena/data/view/AL590998 EMBL AL590998 http://www.ebi.ac.uk/ena/data/view/AL590998 EMBL AL590998 http://www.ebi.ac.uk/ena/data/view/AL590998 EMBL AL590998 http://www.ebi.ac.uk/ena/data/view/AL590998 EMBL AL590998 http://www.ebi.ac.uk/ena/data/view/AL590998 EMBL AL590998 http://www.ebi.ac.uk/ena/data/view/AL590998 EMBL AL590998 http://www.ebi.ac.uk/ena/data/view/AL590998 EMBL AL590998 http://www.ebi.ac.uk/ena/data/view/AL590998 EMBL AL590998 http://www.ebi.ac.uk/ena/data/view/AL590998 EMBL AL590998 http://www.ebi.ac.uk/ena/data/view/AL590998 EMBL L27745 http://www.ebi.ac.uk/ena/data/view/L27745 EMBL L29384 http://www.ebi.ac.uk/ena/data/view/L29384 EMBL L29385 http://www.ebi.ac.uk/ena/data/view/L29385 Ensembl ENST00000358338 http://www.ensembl.org/id/ENST00000358338 Ensembl ENST00000367567 http://www.ensembl.org/id/ENST00000367567 Ensembl ENST00000367570 http://www.ensembl.org/id/ENST00000367570 Ensembl ENST00000367573 http://www.ensembl.org/id/ENST00000367573 Ensembl ENST00000621551 http://www.ensembl.org/id/ENST00000621551 Ensembl ENST00000621791 http://www.ensembl.org/id/ENST00000621791 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005891 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005891 GO_function GO:0005245 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005245 GO_function GO:0005262 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005262 GO_function GO:0005509 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005509 GO_function GO:0008331 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008331 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0007268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007268 GO_process GO:0050796 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050796 GO_process GO:0051899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051899 GO_process GO:0086010 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086010 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 Gene3D 1.20.120.350 http://www.cathdb.info/version/latest/superfamily/1.20.120.350 GeneCards CACNA1E http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CACNA1E GeneID 777 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=777 GeneTree ENSGT00830000128247 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00830000128247 HGNC HGNC:1392 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:1392 HOGENOM HOG000231530 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231530&db=HOGENOM6 HOVERGEN HBG050763 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050763&db=HOVERGEN InParanoid Q15878 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q15878 InterPro IPR002048 http://www.ebi.ac.uk/interpro/entry/IPR002048 InterPro IPR002077 http://www.ebi.ac.uk/interpro/entry/IPR002077 InterPro IPR005449 http://www.ebi.ac.uk/interpro/entry/IPR005449 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR014873 http://www.ebi.ac.uk/interpro/entry/IPR014873 InterPro IPR027359 http://www.ebi.ac.uk/interpro/entry/IPR027359 InterPro IPR031649 http://www.ebi.ac.uk/interpro/entry/IPR031649 Jabion 777 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=777 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:777 http://www.genome.jp/dbget-bin/www_bget?hsa:777 KEGG_Orthology KO:K04852 http://www.genome.jp/dbget-bin/www_bget?KO:K04852 KEGG_Pathway ko04010 http://www.genome.jp/kegg-bin/show_pathway?ko04010 KEGG_Pathway ko04020 http://www.genome.jp/kegg-bin/show_pathway?ko04020 KEGG_Pathway ko04930 http://www.genome.jp/kegg-bin/show_pathway?ko04930 MIM 601013 http://www.ncbi.nlm.nih.gov/omim/601013 OMA SVQPSNH http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=SVQPSNH OrthoDB EOG091G0TKO http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0TKO PANTHER PTHR10037:SF57 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10037:SF57 PDB 3BXL http://www.ebi.ac.uk/pdbe-srv/view/entry/3BXL PDBsum 3BXL http://www.ebi.ac.uk/pdbsum/3BXL PRINTS PR00167 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00167 PRINTS PR01633 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01633 PROSITE PS50222 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50222 PSORT swissprot:CAC1E_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CAC1E_HUMAN PSORT-B swissprot:CAC1E_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CAC1E_HUMAN PSORT2 swissprot:CAC1E_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CAC1E_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF08763 http://pfam.xfam.org/family/PF08763 Pfam PF16905 http://pfam.xfam.org/family/PF16905 PharmGKB PA26009 http://www.pharmgkb.org/do/serve?objId=PA26009&objCls=Gene Phobius swissprot:CAC1E_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CAC1E_HUMAN PhylomeDB Q15878 http://phylomedb.org/?seqid=Q15878 ProteinModelPortal Q15878 http://www.proteinmodelportal.org/query/uniprot/Q15878 PubMed 15258581 http://www.ncbi.nlm.nih.gov/pubmed/15258581 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 18400181 http://www.ncbi.nlm.nih.gov/pubmed/18400181 PubMed 7536609 http://www.ncbi.nlm.nih.gov/pubmed/7536609 PubMed 8071363 http://www.ncbi.nlm.nih.gov/pubmed/8071363 Reactome R-HSA-112308 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-112308 Reactome R-HSA-422356 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-422356 RefSeq NP_000712 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000712 RefSeq NP_001192222 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001192222 RefSeq NP_001192223 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001192223 SMART SM01062 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM01062 SMR Q15878 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q15878 STRING 9606.ENSP00000356545 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000356545&targetmode=cogs UCSC uc001gow http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001gow&org=rat UniGene Hs.437444 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.437444 UniGene Hs.611396 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.611396 UniProtKB CAC1E_HUMAN http://www.uniprot.org/uniprot/CAC1E_HUMAN UniProtKB-AC Q15878 http://www.uniprot.org/uniprot/Q15878 charge swissprot:CAC1E_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CAC1E_HUMAN eggNOG ENOG410INF5 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410INF5 eggNOG ENOG410YD06 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410YD06 epestfind swissprot:CAC1E_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CAC1E_HUMAN garnier swissprot:CAC1E_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CAC1E_HUMAN helixturnhelix swissprot:CAC1E_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CAC1E_HUMAN hmoment swissprot:CAC1E_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CAC1E_HUMAN iep swissprot:CAC1E_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CAC1E_HUMAN inforesidue swissprot:CAC1E_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CAC1E_HUMAN neXtProt NX_Q15878 http://www.nextprot.org/db/entry/NX_Q15878 octanol swissprot:CAC1E_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CAC1E_HUMAN pepcoil swissprot:CAC1E_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CAC1E_HUMAN pepdigest swissprot:CAC1E_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CAC1E_HUMAN pepinfo swissprot:CAC1E_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CAC1E_HUMAN pepnet swissprot:CAC1E_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CAC1E_HUMAN pepstats swissprot:CAC1E_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CAC1E_HUMAN pepwheel swissprot:CAC1E_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CAC1E_HUMAN pepwindow swissprot:CAC1E_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CAC1E_HUMAN sigcleave swissprot:CAC1E_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CAC1E_HUMAN ## Database ID URL or Descriptions # BioGrid 117723 20 # DOMAIN TIM10_HUMAN The twin CX3C motif contains 4 conserved Cys residues that form 2 disulfide bonds in the mitochondrial intermembrane space. However, during the transit of TIMM10 from cytoplasm into mitochondrion, the Cys residues probably coordinate zinc, thereby preventing folding and allowing its transfer across mitochondrial outer membrane (Probable). {ECO 0000305}. # Ensembl ENST00000257245 ENSP00000257245; ENSG00000134809 # Ensembl ENST00000525158 ENSP00000433627; ENSG00000134809 # Ensembl ENST00000525587 ENSP00000435678; ENSG00000134809 # FUNCTION TIM10_HUMAN Mitochondrial intermembrane chaperone that participates in the import and insertion of multi-pass transmembrane proteins into the mitochondrial inner membrane. May also be required for the transfer of beta-barrel precursors from the TOM complex to the sorting and assembly machinery (SAM complex) of the outer membrane. Acts as a chaperone-like protein that protects the hydrophobic precursors from aggregation and guide them through the mitochondrial intermembrane space. {ECO 0000269|PubMed 14726512}. # GO_component GO:0005739 mitochondrion; IDA:HPA. # GO_component GO:0005743 mitochondrial inner membrane; IDA:BHF-UCL. # GO_component GO:0005744 mitochondrial inner membrane presequence translocase complex; TAS:UniProtKB. # GO_component GO:0005758 mitochondrial intermembrane space; TAS:BHF-UCL. # GO_component GO:0042719 mitochondrial intermembrane space protein transporter complex; IDA:BHF-UCL. # GO_function GO:0005215 transporter activity; IDA:BHF-UCL. # GO_function GO:0008270 zinc ion binding; TAS:UniProtKB. # GO_function GO:0008565 protein transporter activity; IBA:GO_Central. # GO_function GO:0042803 protein homodimerization activity; IPI:BHF-UCL. # GO_function GO:0051087 chaperone binding; IPI:BHF-UCL. # GO_process GO:0006626 protein targeting to mitochondrion; TAS:UniProtKB. # GO_process GO:0007605 sensory perception of sound; TAS:UniProtKB. # GO_process GO:0045039 protein import into mitochondrial inner membrane; IDA:BHF-UCL. # GO_process GO:0072321 chaperone-mediated protein transport; IDA:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005739 mitochondrion # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0008565 protein transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006605 protein targeting # GOslim_process GO:0006810 transport # GOslim_process GO:0007005 mitochondrion organization # GOslim_process GO:0050877 neurological system process # GOslim_process GO:0055085 transmembrane transport # GOslim_process GO:0061024 membrane organization # Gene3D 1.10.287.810 -; 1. # Genevisible P62072 HS # HGNC HGNC:11814 TIMM10 # INTERACTION TIM10_HUMAN Q9Y5J7 TIMM9; NbExp=4; IntAct=EBI-1200391, EBI-1200370; # IntAct P62072 5 # InterPro IPR004217 Tim10/DDP_fam_Znf # InterPro IPR027247 Tim10/Tim12 # MIM 602251 gene # Organism TIM10_HUMAN Homo sapiens (Human) # PANTHER PTHR11038 PTHR11038 # PDB 2BSK X-ray; 3.30 A; B/D/F=1-90 # Pfam PF02953 zf-Tim10_DDP # Proteomes UP000005640 Chromosome 11 # Reactome R-HSA-1268020 Mitochondrial protein import # RecName TIM10_HUMAN Mitochondrial import inner membrane translocase subunit Tim10 # RefSeq NP_036588 NM_012456.2 # SIMILARITY Belongs to the small Tim family. {ECO 0000305}. # SUBCELLULAR LOCATION TIM10_HUMAN Mitochondrion inner membrane {ECO 0000269|PubMed 11489896, ECO 0000269|PubMed 14726512}; Peripheral membrane protein {ECO 0000269|PubMed 11489896, ECO 0000269|PubMed 14726512}; Intermembrane side {ECO 0000269|PubMed 11489896, ECO 0000269|PubMed 14726512}. # SUBUNIT TIM10_HUMAN Heterohexamer; composed of 3 copies of TIMM9 and 3 copies of TIMM10/TIM10A, named soluble 70 kDa complex. The complex forms a 6-bladed alpha-propeller structure and associates with the TIMM22 component of the TIM22 complex. Interacts with multi-pass transmembrane proteins in transit. Also forms a complex composed of TIMM9, TIMM10/TIM10A and FXC1/TIM10B. {ECO 0000269|PubMed 14726512, ECO 0000269|PubMed 16387659}. # SUPFAM SSF144122 SSF144122 # TISSUE SPECIFICITY TIM10_HUMAN Ubiquitous, with highest expression in heart, kidney, liver and skeletal muscle. {ECO 0000269|PubMed 10552927, ECO 0000269|PubMed 10611480}. # UCSC uc001nkm human # eggNOG ENOG4112539 LUCA # eggNOG KOG3480 Eukaryota BLAST swissprot:TIM10_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:TIM10_HUMAN BioCyc ZFISH:ENSG00000134809-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000134809-MONOMER COXPRESdb 26519 http://coxpresdb.jp/data/gene/26519.shtml CleanEx HS_TIMM10 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_TIMM10 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1006/geno.1999.5966 http://dx.doi.org/10.1006/geno.1999.5966 DOI 10.1016/S0014-5793(99)01665-8 http://dx.doi.org/10.1016/S0014-5793(99)01665-8 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1016/j.molcel.2005.11.010 http://dx.doi.org/10.1016/j.molcel.2005.11.010 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.M105313200 http://dx.doi.org/10.1074/jbc.M105313200 DOI 10.1074/jbc.M312485200 http://dx.doi.org/10.1074/jbc.M312485200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AF150089 http://www.ebi.ac.uk/ena/data/view/AF150089 EMBL AF152354 http://www.ebi.ac.uk/ena/data/view/AF152354 EMBL AK289751 http://www.ebi.ac.uk/ena/data/view/AK289751 EMBL BC032133 http://www.ebi.ac.uk/ena/data/view/BC032133 EMBL CH471076 http://www.ebi.ac.uk/ena/data/view/CH471076 Ensembl ENST00000257245 http://www.ensembl.org/id/ENST00000257245 Ensembl ENST00000525158 http://www.ensembl.org/id/ENST00000525158 Ensembl ENST00000525587 http://www.ensembl.org/id/ENST00000525587 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0005744 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005744 GO_component GO:0005758 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005758 GO_component GO:0042719 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042719 GO_function GO:0005215 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005215 GO_function GO:0008270 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008270 GO_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GO_function GO:0042803 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042803 GO_function GO:0051087 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051087 GO_process GO:0006626 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006626 GO_process GO:0007605 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007605 GO_process GO:0045039 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045039 GO_process GO:0072321 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0072321 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006605 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006605 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007005 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007005 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GOslim_process GO:0061024 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061024 Gene3D 1.10.287.810 http://www.cathdb.info/version/latest/superfamily/1.10.287.810 GeneCards TIMM10 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=TIMM10 GeneID 26519 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=26519 GeneTree ENSGT00390000003068 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000003068 HGNC HGNC:11814 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11814 HOGENOM HOG000211421 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000211421&db=HOGENOM6 HOVERGEN HBG055029 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG055029&db=HOVERGEN HPA HPA039946 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA039946 InParanoid P62072 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P62072 IntAct P62072 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P62072* InterPro IPR004217 http://www.ebi.ac.uk/interpro/entry/IPR004217 InterPro IPR027247 http://www.ebi.ac.uk/interpro/entry/IPR027247 Jabion 26519 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=26519 KEGG_Gene hsa:26519 http://www.genome.jp/dbget-bin/www_bget?hsa:26519 MIM 602251 http://www.ncbi.nlm.nih.gov/omim/602251 OMA MDPMKAQ http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=MDPMKAQ OrthoDB EOG091G15XZ http://cegg.unige.ch/orthodb/results?searchtext=EOG091G15XZ PANTHER PTHR11038 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11038 PDB 2BSK http://www.ebi.ac.uk/pdbe-srv/view/entry/2BSK PDBsum 2BSK http://www.ebi.ac.uk/pdbsum/2BSK PSORT swissprot:TIM10_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:TIM10_HUMAN PSORT-B swissprot:TIM10_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:TIM10_HUMAN PSORT2 swissprot:TIM10_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:TIM10_HUMAN Pfam PF02953 http://pfam.xfam.org/family/PF02953 PharmGKB PA36521 http://www.pharmgkb.org/do/serve?objId=PA36521&objCls=Gene Phobius swissprot:TIM10_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:TIM10_HUMAN PhylomeDB P62072 http://phylomedb.org/?seqid=P62072 ProteinModelPortal P62072 http://www.proteinmodelportal.org/query/uniprot/P62072 PubMed 10552927 http://www.ncbi.nlm.nih.gov/pubmed/10552927 PubMed 10611480 http://www.ncbi.nlm.nih.gov/pubmed/10611480 PubMed 11489896 http://www.ncbi.nlm.nih.gov/pubmed/11489896 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 14726512 http://www.ncbi.nlm.nih.gov/pubmed/14726512 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16387659 http://www.ncbi.nlm.nih.gov/pubmed/16387659 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 Reactome R-HSA-1268020 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1268020 RefSeq NP_036588 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_036588 SMR P62072 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P62072 STRING 9606.ENSP00000257245 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000257245&targetmode=cogs SUPFAM SSF144122 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF144122 UCSC uc001nkm http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001nkm&org=rat UniGene Hs.235750 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.235750 UniProtKB TIM10_HUMAN http://www.uniprot.org/uniprot/TIM10_HUMAN UniProtKB-AC P62072 http://www.uniprot.org/uniprot/P62072 charge swissprot:TIM10_HUMAN http://rest.g-language.org/emboss/charge/swissprot:TIM10_HUMAN eggNOG ENOG4112539 http://eggnogapi.embl.de/nog_data/html/tree/ENOG4112539 eggNOG KOG3480 http://eggnogapi.embl.de/nog_data/html/tree/KOG3480 epestfind swissprot:TIM10_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:TIM10_HUMAN garnier swissprot:TIM10_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:TIM10_HUMAN helixturnhelix swissprot:TIM10_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:TIM10_HUMAN hmoment swissprot:TIM10_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:TIM10_HUMAN iep swissprot:TIM10_HUMAN http://rest.g-language.org/emboss/iep/swissprot:TIM10_HUMAN inforesidue swissprot:TIM10_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:TIM10_HUMAN neXtProt NX_P62072 http://www.nextprot.org/db/entry/NX_P62072 octanol swissprot:TIM10_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:TIM10_HUMAN pepcoil swissprot:TIM10_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:TIM10_HUMAN pepdigest swissprot:TIM10_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:TIM10_HUMAN pepinfo swissprot:TIM10_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:TIM10_HUMAN pepnet swissprot:TIM10_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:TIM10_HUMAN pepstats swissprot:TIM10_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:TIM10_HUMAN pepwheel swissprot:TIM10_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:TIM10_HUMAN pepwindow swissprot:TIM10_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:TIM10_HUMAN sigcleave swissprot:TIM10_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:TIM10_HUMAN ## Database ID URL or Descriptions # AltName IMA3_HUMAN Importin alpha Q1 # AltName IMA3_HUMAN Karyopherin subunit alpha-4 # BioGrid 110038 83 # CAUTION Was termed importin alpha-3. {ECO:0000305|PubMed 9395085}. # ChiTaRS KPNA4 human # DOMAIN IMA3_HUMAN Consists of an N-terminal hydrophilic region, a hydrophobic central region composed of 10 repeats, and a short hydrophilic C-terminus. The N-terminal hydrophilic region contains the importin beta binding domain (IBB domain), which is sufficient for binding importin beta and essential for nuclear protein import. # DOMAIN IMA3_HUMAN The IBB domain is thought to act as an intrasteric autoregulatory sequence by interacting with the internal autoinhibitory NLS. Binding of KPNB1 probably overlaps the internal NLS and contributes to a high affinity for cytoplasmic NLS-containing cargo substrates. After dissociation of the importin/substrate complex in the nucleus the internal autohibitory NLS contributes to a low affinity for nuclear NLS- containing proteins (By similarity). {ECO 0000250}. # DOMAIN IMA3_HUMAN The major and minor NLS binding sites are mainly involved in recognition of simple or bipartite NLS motifs. Structurally located within in a helical surface groove they contain several conserved Trp and Asn residues of the corresponding third helices (H3) of ARM repeats which mainly contribute to binding (By similarity). {ECO 0000250}. # Ensembl ENST00000334256 ENSP00000334373; ENSG00000186432 # ExpressionAtlas O00629 baseline and differential # FUNCTION IMA3_HUMAN Functions in nuclear protein import as an adapter protein for nuclear receptor KPNB1. Binds specifically and directly to substrates containing either a simple or bipartite NLS motif. Docking of the importin/substrate complex to the nuclear pore complex (NPC) is mediated by KPNB1 through binding to nucleoporin FxFG repeats and the complex is subsequently translocated through the pore by an energy requiring, Ran- dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to importin-beta and the three components separate and importin-alpha and -beta are re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran from importin. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. In vitro, mediates the nuclear import of human cytomegalovirus UL84 by recognizing a non- classical NLS. In vitro, mediates the nuclear import of human cytomegalovirus UL84 by recognizing a non-classical NLS. # GO_component GO:0005643 nuclear pore; IBA:GO_Central. # GO_component GO:0005654 nucleoplasm; IBA:GO_Central. # GO_component GO:0005829 cytosol; IBA:GO_Central. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0008139 nuclear localization sequence binding; IBA:GO_Central. # GO_function GO:0008565 protein transporter activity; IBA:GO_Central. # GO_process GO:0006607 NLS-bearing protein import into nucleus; TAS:ProtInc. # GO_process GO:0019054 modulation by virus of host process; TAS:Reactome. # GO_process GO:0042542 response to hydrogen peroxide; IEA:Ensembl. # GO_process GO:0075733 intracellular transport of virus; TAS:Reactome. # GOslim_component GO:0005654 nucleoplasm # GOslim_component GO:0005829 cytosol # GOslim_component GO:0043226 organelle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0008565 protein transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0006913 nucleocytoplasmic transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0044403 symbiosis, encompassing mutualism through parasitism # Gene3D 1.25.10.10 -; 1. # Genevisible O00629 HS # HGNC HGNC:6397 KPNA4 # INTERACTION IMA3_HUMAN Q6ZMK1 CYHR1; NbExp=3; IntAct=EBI-396343, EBI-3908824; P04585 gag-pol (xeno); NbExp=4; IntAct=EBI-396343, EBI-9872653; P07910 HNRNPC; NbExp=5; IntAct=EBI-396343, EBI-357966; Q9NZL9 MAT2B; NbExp=3; IntAct=EBI-396343, EBI-10317491; Q9UKX7 NUP50; NbExp=5; IntAct=EBI-396343, EBI-2371082; Q9Y263 PLAA; NbExp=3; IntAct=EBI-396343, EBI-1994037; P46063 RECQL; NbExp=2; IntAct=EBI-396343, EBI-2823728; # IntAct O00629 51 # InterPro IPR000225 Armadillo # InterPro IPR002652 Importin-a_IBB # InterPro IPR011989 ARM-like # InterPro IPR016024 ARM-type_fold # InterPro IPR024931 Importing_su_alpha # InterPro IPR032413 Arm_3 # MIM 602970 gene # Organism IMA3_HUMAN Homo sapiens (Human) # PDB 4UAE X-ray; 2.70 A; A=68-487 # PIR JC5505 JC5505 # PIRSF PIRSF005673 Importin_alpha # PROSITE PS50176 ARM_REPEAT; 3 # PROSITE PS51214 IBB # Pfam PF00514 Arm; 8 # Pfam PF01749 IBB # Pfam PF16186 Arm_3 # Proteomes UP000005640 Chromosome 3 # Reactome R-HSA-1169408 ISG15 antiviral mechanism # Reactome R-HSA-168276 NS1 Mediated Effects on Host Pathways # RecName IMA3_HUMAN Importin subunit alpha-3 # RefSeq NP_002259 NM_002268.4 # SIMILARITY Belongs to the importin alpha family. {ECO 0000305}. # SIMILARITY Contains 1 IBB domain. {ECO:0000255|PROSITE- ProRule PRU00561}. # SIMILARITY Contains 10 ARM repeats. {ECO:0000255|PROSITE- ProRule PRU00259}. # SMART SM00185 ARM; 8 # SUBCELLULAR LOCATION IMA3_HUMAN Cytoplasm {ECO 0000250}. Nucleus {ECO 0000250}. # SUBUNIT IMA3_HUMAN Forms a complex with importin subunit beta-1. Interacts with SNAI1. Interacts with human adenovirus 5 E1A protein; this interaction allows E1A import into the host nucleus (PubMed 23864635). {ECO 0000269|PubMed 12610148, ECO 0000269|PubMed 21454664, ECO 0000269|PubMed 23864635}. # SUPFAM SSF48371 SSF48371 # TCDB 1.I.1.1 the nuclear pore complex (npc) family # TISSUE SPECIFICITY IMA3_HUMAN Highly expressed in testis, ovary, small intestine, heart, skeletal muscle, lung and pancreas, but barely detectable in kidney, thymus, colon and peripheral blood leukocytes. # UCSC uc003fdn human # eggNOG COG5064 LUCA # eggNOG KOG0166 Eukaryota BLAST swissprot:IMA3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:IMA3_HUMAN BioCyc ZFISH:ENSG00000144975-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000144975-MONOMER COXPRESdb 3840 http://coxpresdb.jp/data/gene/3840.shtml CleanEx HS_KPNA4 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KPNA4 DIP DIP-32982N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-32982N DOI 10.1006/bbrc.1997.6535 http://dx.doi.org/10.1006/bbrc.1997.6535 DOI 10.1016/S0014-5793(97)01265-9 http://dx.doi.org/10.1016/S0014-5793(97)01265-9 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/ac9004309 http://dx.doi.org/10.1021/ac9004309 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1073/pnas.1210303109 http://dx.doi.org/10.1073/pnas.1210303109 DOI 10.1074/jbc.M110.213579 http://dx.doi.org/10.1074/jbc.M110.213579 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/scisignal.2000007 http://dx.doi.org/10.1126/scisignal.2000007 DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 DOI 10.1128/JVI.00786-13 http://dx.doi.org/10.1128/JVI.00786-13 DOI 10.1128/JVI.77.6.3734-3748.2003 http://dx.doi.org/10.1128/JVI.77.6.3734-3748.2003 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AB002533 http://www.ebi.ac.uk/ena/data/view/AB002533 EMBL AK291041 http://www.ebi.ac.uk/ena/data/view/AK291041 EMBL BC028691 http://www.ebi.ac.uk/ena/data/view/BC028691 EMBL BC034493 http://www.ebi.ac.uk/ena/data/view/BC034493 EMBL CH471052 http://www.ebi.ac.uk/ena/data/view/CH471052 EMBL CH471052 http://www.ebi.ac.uk/ena/data/view/CH471052 EMBL U93240 http://www.ebi.ac.uk/ena/data/view/U93240 EMBL Y12393 http://www.ebi.ac.uk/ena/data/view/Y12393 Ensembl ENST00000334256 http://www.ensembl.org/id/ENST00000334256 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005643 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005643 GO_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0008139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008139 GO_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GO_process GO:0006607 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006607 GO_process GO:0019054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019054 GO_process GO:0042542 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042542 GO_process GO:0075733 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0075733 GOslim_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006913 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006913 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0044403 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044403 Gene3D 1.25.10.10 http://www.cathdb.info/version/latest/superfamily/1.25.10.10 GeneCards KPNA4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KPNA4 GeneID 3840 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=3840 GeneTree ENSGT00760000119094 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119094 HGNC HGNC:6397 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6397 HOGENOM HOG000167616 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000167616&db=HOGENOM6 HOVERGEN HBG001846 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG001846&db=HOVERGEN HPA CAB034336 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB034336 HPA HPA043154 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA043154 HPA HPA045500 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA045500 InParanoid O00629 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O00629 IntAct O00629 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O00629* InterPro IPR000225 http://www.ebi.ac.uk/interpro/entry/IPR000225 InterPro IPR002652 http://www.ebi.ac.uk/interpro/entry/IPR002652 InterPro IPR011989 http://www.ebi.ac.uk/interpro/entry/IPR011989 InterPro IPR016024 http://www.ebi.ac.uk/interpro/entry/IPR016024 InterPro IPR024931 http://www.ebi.ac.uk/interpro/entry/IPR024931 InterPro IPR032413 http://www.ebi.ac.uk/interpro/entry/IPR032413 Jabion 3840 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=3840 KEGG_Gene hsa:3840 http://www.genome.jp/dbget-bin/www_bget?hsa:3840 MIM 602970 http://www.ncbi.nlm.nih.gov/omim/602970 MINT MINT-5003750 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-5003750 OMA TMRRQRT http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=TMRRQRT OrthoDB EOG091G095Z http://cegg.unige.ch/orthodb/results?searchtext=EOG091G095Z PDB 4UAE http://www.ebi.ac.uk/pdbe-srv/view/entry/4UAE PDBsum 4UAE http://www.ebi.ac.uk/pdbsum/4UAE PROSITE PS50176 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50176 PROSITE PS51214 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51214 PSORT swissprot:IMA3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:IMA3_HUMAN PSORT-B swissprot:IMA3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:IMA3_HUMAN PSORT2 swissprot:IMA3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:IMA3_HUMAN Pfam PF00514 http://pfam.xfam.org/family/PF00514 Pfam PF01749 http://pfam.xfam.org/family/PF01749 Pfam PF16186 http://pfam.xfam.org/family/PF16186 PharmGKB PA30188 http://www.pharmgkb.org/do/serve?objId=PA30188&objCls=Gene Phobius swissprot:IMA3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:IMA3_HUMAN PhylomeDB O00629 http://phylomedb.org/?seqid=O00629 ProteinModelPortal O00629 http://www.proteinmodelportal.org/query/uniprot/O00629 PubMed 12610148 http://www.ncbi.nlm.nih.gov/pubmed/12610148 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 19413330 http://www.ncbi.nlm.nih.gov/pubmed/19413330 PubMed 19690332 http://www.ncbi.nlm.nih.gov/pubmed/19690332 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 21454664 http://www.ncbi.nlm.nih.gov/pubmed/21454664 PubMed 22814378 http://www.ncbi.nlm.nih.gov/pubmed/22814378 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 23864635 http://www.ncbi.nlm.nih.gov/pubmed/23864635 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 9168958 http://www.ncbi.nlm.nih.gov/pubmed/9168958 PubMed 9395085 http://www.ncbi.nlm.nih.gov/pubmed/9395085 Reactome R-HSA-1169408 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1169408 Reactome R-HSA-168276 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-168276 RefSeq NP_002259 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_002259 SMART SM00185 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00185 SMR O00629 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=O00629 STRING 9606.ENSP00000334373 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000334373&targetmode=cogs SUPFAM SSF48371 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48371 TCDB 1.I.1.1 http://www.tcdb.org/search/result.php?tc=1.I.1.1 UCSC uc003fdn http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003fdn&org=rat UniGene Hs.467866 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.467866 UniProtKB IMA3_HUMAN http://www.uniprot.org/uniprot/IMA3_HUMAN UniProtKB-AC O00629 http://www.uniprot.org/uniprot/O00629 charge swissprot:IMA3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:IMA3_HUMAN eggNOG COG5064 http://eggnogapi.embl.de/nog_data/html/tree/COG5064 eggNOG KOG0166 http://eggnogapi.embl.de/nog_data/html/tree/KOG0166 epestfind swissprot:IMA3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:IMA3_HUMAN garnier swissprot:IMA3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:IMA3_HUMAN helixturnhelix swissprot:IMA3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:IMA3_HUMAN hmoment swissprot:IMA3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:IMA3_HUMAN iep swissprot:IMA3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:IMA3_HUMAN inforesidue swissprot:IMA3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:IMA3_HUMAN neXtProt NX_O00629 http://www.nextprot.org/db/entry/NX_O00629 octanol swissprot:IMA3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:IMA3_HUMAN pepcoil swissprot:IMA3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:IMA3_HUMAN pepdigest swissprot:IMA3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:IMA3_HUMAN pepinfo swissprot:IMA3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:IMA3_HUMAN pepnet swissprot:IMA3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:IMA3_HUMAN pepstats swissprot:IMA3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:IMA3_HUMAN pepwheel swissprot:IMA3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:IMA3_HUMAN pepwindow swissprot:IMA3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:IMA3_HUMAN sigcleave swissprot:IMA3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:IMA3_HUMAN ## Database ID URL or Descriptions # AltName SEC62_HUMAN Translocation protein 1 # BioGrid 112950 22 # ChiTaRS SEC62 human # Ensembl ENST00000337002 ENSP00000337688; ENSG00000008952 # Ensembl ENST00000480708 ENSP00000420331; ENSG00000008952 # ExpressionAtlas Q99442 baseline and differential # FUNCTION SEC62_HUMAN Required for preprotein translocation. {ECO 0000250}. # GO_component GO:0005783 endoplasmic reticulum; IDA:HPA. # GO_component GO:0005789 endoplasmic reticulum membrane; TAS:Reactome. # GO_component GO:0005791 rough endoplasmic reticulum; ISS:UniProtKB. # GO_component GO:0005829 cytosol; TAS:Reactome. # GO_component GO:0016020 membrane; IDA:MGI. # GO_component GO:0016021 integral component of membrane; TAS:ProtInc. # GO_component GO:0016235 aggresome; IDA:HPA. # GO_component GO:0045111 intermediate filament cytoskeleton; IDA:HPA. # GO_function GO:0004872 receptor activity; TAS:ProtInc. # GO_function GO:0008565 protein transporter activity; IEA:InterPro. # GO_process GO:0006613 cotranslational protein targeting to membrane; TAS:ProtInc. # GO_process GO:0006620 posttranslational protein targeting to membrane; IMP:MGI. # GO_process GO:0036498 IRE1-mediated unfolded protein response; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_component GO:0005829 cytosol # GOslim_component GO:0005856 cytoskeleton # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0008565 protein transporter activity # GOslim_process GO:0006605 protein targeting # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0061024 membrane organization # Gene3D 1.10.10.10 -; 2. # Genevisible Q99442 HS # HGNC HGNC:11846 SEC62 # IntAct Q99442 15 # InterPro IPR004728 Sec62 # InterPro IPR011991 WHTH_DNA-bd_dom # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02044 Secretion system # KEGG_Pathway ko03060 Protein export # KEGG_Pathway ko04141 Protein processing in endoplasmic reticulum # MIM 602173 gene # Organism SEC62_HUMAN Homo sapiens (Human) # PANTHER PTHR12443 PTHR12443 # PIR JC5279 JC5279 # Pfam PF03839 Sec62 # Proteomes UP000005640 Chromosome 3 # Reactome R-HSA-381038 XBP1(S) activates chaperone genes # RecName SEC62_HUMAN Translocation protein SEC62 # RefSeq NP_003253 NM_003262.3 # SIMILARITY Belongs to the SEC62 family. {ECO 0000305}. # SUBCELLULAR LOCATION SEC62_HUMAN Endoplasmic reticulum membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. # SUBUNIT Part of a complex that contains SEC61, SEC62 and SEC63. Interacts with SEC61B. {ECO:0000269|PubMed 10799540}. # TCDB 1.A.15.1 the non-selective cation channel-2 (nscc2) family # UCSC uc003fgg human # eggNOG COG5232 LUCA # eggNOG KOG2927 Eukaryota BLAST swissprot:SEC62_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SEC62_HUMAN BioCyc ZFISH:ENSG00000008952-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000008952-MONOMER COXPRESdb 7095 http://coxpresdb.jp/data/gene/7095.shtml CleanEx HS_SEC62 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SEC62 DOI 10.1002/pmic.200700884 http://dx.doi.org/10.1002/pmic.200700884 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1006/bbrc.1996.5892 http://dx.doi.org/10.1006/bbrc.1996.5892 DOI 10.1016/j.cell.2006.09.026 http://dx.doi.org/10.1016/j.cell.2006.09.026 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1074/jbc.275.19.14550 http://dx.doi.org/10.1074/jbc.275.19.14550 DOI 10.1080/152165499306504 http://dx.doi.org/10.1080/152165499306504 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 DOI 10.1126/scisignal.2001570 http://dx.doi.org/10.1126/scisignal.2001570 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AB024586 http://www.ebi.ac.uk/ena/data/view/AB024586 EMBL BC012035 http://www.ebi.ac.uk/ena/data/view/BC012035 EMBL CH471052 http://www.ebi.ac.uk/ena/data/view/CH471052 EMBL CH471052 http://www.ebi.ac.uk/ena/data/view/CH471052 EMBL D87127 http://www.ebi.ac.uk/ena/data/view/D87127 EMBL U93239 http://www.ebi.ac.uk/ena/data/view/U93239 Ensembl ENST00000337002 http://www.ensembl.org/id/ENST00000337002 Ensembl ENST00000480708 http://www.ensembl.org/id/ENST00000480708 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GO_component GO:0005789 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005789 GO_component GO:0005791 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005791 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0016235 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016235 GO_component GO:0045111 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045111 GO_function GO:0004872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004872 GO_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GO_process GO:0006613 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006613 GO_process GO:0006620 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006620 GO_process GO:0036498 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0036498 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0005856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005856 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_process GO:0006605 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006605 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0061024 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061024 Gene3D 1.10.10.10 http://www.cathdb.info/version/latest/superfamily/1.10.10.10 GeneCards SEC62 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SEC62 GeneID 7095 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=7095 GeneTree ENSGT00390000002757 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000002757 HGNC HGNC:11846 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11846 HOGENOM HOG000016701 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000016701&db=HOGENOM6 HOVERGEN HBG055550 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG055550&db=HOVERGEN HPA HPA014059 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA014059 HPA HPA061450 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA061450 InParanoid Q99442 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q99442 IntAct Q99442 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q99442* InterPro IPR004728 http://www.ebi.ac.uk/interpro/entry/IPR004728 InterPro IPR011991 http://www.ebi.ac.uk/interpro/entry/IPR011991 Jabion 7095 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=7095 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02044 http://www.genome.jp/dbget-bin/www_bget?ko02044 KEGG_Gene hsa:7095 http://www.genome.jp/dbget-bin/www_bget?hsa:7095 KEGG_Orthology KO:K12275 http://www.genome.jp/dbget-bin/www_bget?KO:K12275 KEGG_Pathway ko03060 http://www.genome.jp/kegg-bin/show_pathway?ko03060 KEGG_Pathway ko04141 http://www.genome.jp/kegg-bin/show_pathway?ko04141 MIM 602173 http://www.ncbi.nlm.nih.gov/omim/602173 MINT MINT-2863594 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-2863594 OMA SNGNDFE http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=SNGNDFE OrthoDB EOG091G0KPB http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0KPB PANTHER PTHR12443 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12443 PSORT swissprot:SEC62_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SEC62_HUMAN PSORT-B swissprot:SEC62_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SEC62_HUMAN PSORT2 swissprot:SEC62_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SEC62_HUMAN Pfam PF03839 http://pfam.xfam.org/family/PF03839 PharmGKB PA162402849 http://www.pharmgkb.org/do/serve?objId=PA162402849&objCls=Gene Phobius swissprot:SEC62_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SEC62_HUMAN PhylomeDB Q99442 http://phylomedb.org/?seqid=Q99442 ProteinModelPortal Q99442 http://www.proteinmodelportal.org/query/uniprot/Q99442 PubMed 10683767 http://www.ncbi.nlm.nih.gov/pubmed/10683767 PubMed 10799540 http://www.ncbi.nlm.nih.gov/pubmed/10799540 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 17081983 http://www.ncbi.nlm.nih.gov/pubmed/17081983 PubMed 18318008 http://www.ncbi.nlm.nih.gov/pubmed/18318008 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 21406692 http://www.ncbi.nlm.nih.gov/pubmed/21406692 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 9020021 http://www.ncbi.nlm.nih.gov/pubmed/9020021 Reactome R-HSA-381038 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-381038 RefSeq NP_003253 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_003253 STRING 9606.ENSP00000337688 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000337688&targetmode=cogs TCDB 1.A.15.1 http://www.tcdb.org/search/result.php?tc=1.A.15.1 UCSC uc003fgg http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003fgg&org=rat UniGene Hs.744859 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.744859 UniProtKB SEC62_HUMAN http://www.uniprot.org/uniprot/SEC62_HUMAN UniProtKB-AC Q99442 http://www.uniprot.org/uniprot/Q99442 charge swissprot:SEC62_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SEC62_HUMAN eggNOG COG5232 http://eggnogapi.embl.de/nog_data/html/tree/COG5232 eggNOG KOG2927 http://eggnogapi.embl.de/nog_data/html/tree/KOG2927 epestfind swissprot:SEC62_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SEC62_HUMAN garnier swissprot:SEC62_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SEC62_HUMAN helixturnhelix swissprot:SEC62_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SEC62_HUMAN hmoment swissprot:SEC62_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SEC62_HUMAN iep swissprot:SEC62_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SEC62_HUMAN inforesidue swissprot:SEC62_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SEC62_HUMAN neXtProt NX_Q99442 http://www.nextprot.org/db/entry/NX_Q99442 octanol swissprot:SEC62_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SEC62_HUMAN pepcoil swissprot:SEC62_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SEC62_HUMAN pepdigest swissprot:SEC62_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SEC62_HUMAN pepinfo swissprot:SEC62_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SEC62_HUMAN pepnet swissprot:SEC62_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SEC62_HUMAN pepstats swissprot:SEC62_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SEC62_HUMAN pepwheel swissprot:SEC62_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SEC62_HUMAN pepwindow swissprot:SEC62_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SEC62_HUMAN sigcleave swissprot:SEC62_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SEC62_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS CLCN5_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P51795-1; Sequence=Displayed; Name=2; IsoId=P51795-2; Sequence=VSP_042046; # AltName CLCN5_HUMAN Chloride channel protein 5 # AltName CLCN5_HUMAN Chloride transporter ClC-5 # BioGrid 107598 4 # CCDS CCDS14328 -. [P51795-1] # CCDS CCDS48115 -. [P51795-2] # ChiTaRS CLCN5 human # DISEASE CLCN5_HUMAN Hypophosphatemic rickets, X-linked recessive (XLRHR) [MIM 300554] A renal disease belonging to the 'Dent disease complex', a group of disorders characterized by proximal renal tubular defect, hypercalciuria, nephrocalcinosis, and renal insufficiency. The spectrum of phenotypic features is remarkably similar in the various disorders, except for differences in the severity of bone deformities and renal impairment. XLRH patients present with rickets or osteomalacia, hypophosphatemia due to decreased renal tubular phosphate reabsorption, hypercalciuria, and low molecular weight proteinuria. Patients develop nephrocalcinosis with progressive renal failure in adulthood. Female carriers may have asymptomatic hypercalciuria or hypophosphatemia only. {ECO 0000269|PubMed 8559248}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE CLCN5_HUMAN Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis (LMWPHN) [MIM 308990] An X-linked renal disease belonging to the 'Dent disease complex', a group of disorders characterized by proximal renal tubular defect, hypercalciuria, nephrocalcinosis, and renal insufficiency. The spectrum of phenotypic features is remarkably similar in the various disorders, except for differences in the severity of bone deformities and renal impairment. LMWPHN is a slowly progressive disorder. Patients tend to have hypercalciuric nephrocalcinosis without rickets or renal failure. {ECO 0000269|PubMed 11136179, ECO 0000269|PubMed 9062355}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE CLCN5_HUMAN Nephrolithiasis 1 (NPHL1) [MIM 310468] An X-linked recessive renal disease belonging to the 'Dent disease complex', a group of disorders characterized by proximal renal tubular defect, hypercalciuria, nephrocalcinosis and renal insufficiency. The spectrum of phenotypic features is remarkably similar in the various disorders, except for differences in the severity of bone deformities and renal impairment. Nephrolithiasis type 1 presents with hypercalciuria, nephrocalcinosis, renal stones and renal insufficiency. Patients lack urinary acidification defects, rickets, and osteomalacia. {ECO 0000269|PubMed 8559248}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE CLCN5_HUMAN Nephrolithiasis 2 (NPHL2) [MIM 300009] An X-linked recessive renal disease belonging to the 'Dent disease complex', a group of disorders characterized by proximal renal tubular defect, hypercalciuria, nephrocalcinosis, and renal insufficiency. The spectrum of phenotypic features is remarkably similar in the various disorders, except for differences in the severity of bone deformities and renal impairment. Nephrolithiasis type 2 patients manifest hypercalciuria, hypophosphatemia, aminoaciduria, nephrocalcinosis and nephrolithiasis, renal insufficiency leading to renal failure in adulthood, rickets (33% of patients) and osteomalacia. {ECO 0000269|PubMed 15086899, ECO 0000269|PubMed 16247550, ECO 0000269|PubMed 16416111, ECO 0000269|PubMed 16822791, ECO 0000269|PubMed 17262170, ECO 0000269|PubMed 18025833, ECO 0000269|PubMed 19657328, ECO 0000269|PubMed 8559248, ECO 0000269|PubMed 9187673, ECO 0000269|PubMed 9259268, ECO 0000269|PubMed 9602200, ECO 0000269|PubMed 9853249}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000307367 ENSP00000304257; ENSG00000171365. [P51795-1] # Ensembl ENST00000376088 ENSP00000365256; ENSG00000171365. [P51795-2] # Ensembl ENST00000376091 ENSP00000365259; ENSG00000171365. [P51795-2] # Ensembl ENST00000376108 ENSP00000365276; ENSG00000171365. [P51795-1] # ExpressionAtlas P51795 baseline and differential # FUNCTION CLCN5_HUMAN Proton-coupled chloride transporter. Functions as antiport system and exchanges chloride ions against protons. Important for normal acidification of the endosome lumen. May play an important role in renal tubular function. # GO_component GO:0000139 Golgi membrane; IEA:UniProtKB-SubCell. # GO_component GO:0005765 lysosomal membrane; IDA:UniProtKB. # GO_component GO:0005768 endosome; IBA:GO_Central. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0010008 endosome membrane; TAS:Reactome. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0045177 apical part of cell; IDA:UniProtKB. # GO_function GO:0005247 voltage-gated chloride channel activity; IBA:GO_Central. # GO_function GO:0005254 chloride channel activity; TAS:ProtInc. # GO_function GO:0005524 ATP binding; IEA:UniProtKB-KW. # GO_function GO:0015297 antiporter activity; TAS:Reactome. # GO_function GO:0031404 chloride ion binding; IBA:GO_Central. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0007588 excretion; TAS:ProtInc. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005768 endosome # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.10.3080.10 -; 3. # Genevisible P51795 HS # HGNC HGNC:2023 CLCN5 # InterPro IPR000644 CBS_dom # InterPro IPR001807 Cl-channel_volt-gated # InterPro IPR002247 Cl_channel-5 # InterPro IPR014743 Cl-channel_core # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00214 [Inherited metabolic disease; Connective tissue disease; Urologic disease] Hereditary hypophophatemic rickets with hypercalciuria (HHRH) # KEGG_Disease H00694 [Urinary system disease] Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis # MIM 300008 gene # MIM 300009 phenotype # MIM 300554 phenotype # MIM 308990 phenotype # MIM 310468 phenotype # MISCELLANEOUS CLCN5_HUMAN The CLC channel family contains both chloride channels and proton-coupled anion transporters that exchange chloride or another anion for protons. The absence of conserved gating glutamate residues is typical for family members that function as channels. # Organism CLCN5_HUMAN Homo sapiens (Human) # Orphanet 93622 Dent disease type 1 # PDB 2J9L X-ray; 2.30 A; A/B/C/D/E/F=571-746 # PDB 2JA3 X-ray; 3.05 A; A/B/C/D/E/F=571-746 # PIR I37277 I37277 # PRINTS PR00762 CLCHANNEL # PRINTS PR01116 CLCHANNEL5 # PROSITE PS51371 CBS; 2 # PTM CLCN5_HUMAN Ubiquitinated by NEDD4L in the presence of albumin; which promotes endocytosis and proteasomal degradation. {ECO 0000269|PubMed 15489223}. # Pfam PF00571 CBS; 2 # Pfam PF00654 Voltage_CLC # Proteomes UP000005640 Chromosome X # Reactome R-HSA-2672351 Stimuli-sensing channels # RecName CLCN5_HUMAN H(+)/Cl(-) exchange transporter 5 # RefSeq NP_000075 NM_000084.4. [P51795-1] # RefSeq NP_001121370 NM_001127898.3. [P51795-2] # RefSeq NP_001121371 NM_001127899.3. [P51795-2] # RefSeq NP_001269092 NM_001282163.1 # SIMILARITY Belongs to the chloride channel (TC 2.A.49) family. ClC-5/CLCN5 subfamily. {ECO 0000305}. # SIMILARITY Contains 2 CBS domains. {ECO:0000255|PROSITE- ProRule PRU00703}. # SMART SM00116 CBS; 2 # SUBCELLULAR LOCATION CLCN5_HUMAN Golgi apparatus membrane {ECO 0000269|PubMed 19019917}; Multi-pass membrane protein {ECO 0000269|PubMed 19019917}. Endosome membrane {ECO 0000269|PubMed 19019917}; Multi-pass membrane protein {ECO 0000269|PubMed 19019917}. Cell membrane {ECO 0000269|PubMed 19019917}; Multi-pass membrane protein {ECO 0000269|PubMed 19019917}. # SUBUNIT Interacts with NEDD4 and NEDD4L. {ECO:0000269|PubMed 15489223}. # SUPFAM SSF81340 SSF81340; 3 # TISSUE SPECIFICITY Kidney. Moderately expressed in aortic vascular smooth muscle and endothelial cells, and at a slightly higher level in the coronary vascular smooth muscle. {ECO:0000269|PubMed 10198195}. # UCSC uc004doq human. [P51795-1] # eggNOG COG0038 LUCA # eggNOG KOG0475 Eukaryota BLAST swissprot:CLCN5_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CLCN5_HUMAN BioCyc ZFISH:ENSG00000171365-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000171365-MONOMER COXPRESdb 1184 http://coxpresdb.jp/data/gene/1184.shtml CleanEx HS_CLCN5 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CLCN5 DIP DIP-29263N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-29263N DOI 10.1002/humu.21467 http://dx.doi.org/10.1002/humu.21467 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1006/geno.1995.9960 http://dx.doi.org/10.1006/geno.1995.9960 DOI 10.1006/jmcc.1998.0901 http://dx.doi.org/10.1006/jmcc.1998.0901 DOI 10.1007/s00240-005-0005-5 http://dx.doi.org/10.1007/s00240-005-0005-5 DOI 10.1007/s004390050448 http://dx.doi.org/10.1007/s004390050448 DOI 10.1007/s10038-005-0317-x http://dx.doi.org/10.1007/s10038-005-0317-x DOI 10.1007/s10038-007-0112-y http://dx.doi.org/10.1007/s10038-007-0112-y DOI 10.1016/S0022-3476(98)70318-X http://dx.doi.org/10.1016/S0022-3476(98)70318-X DOI 10.1016/S0272-6386(01)80067-6 http://dx.doi.org/10.1016/S0272-6386(01)80067-6 DOI 10.1038/379445a0 http://dx.doi.org/10.1038/379445a0 DOI 10.1038/ki.2009.305 http://dx.doi.org/10.1038/ki.2009.305 DOI 10.1038/nature03440 http://dx.doi.org/10.1038/nature03440 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1038/nsmb1188 http://dx.doi.org/10.1038/nsmb1188 DOI 10.1046/j.1523-1755.1998.00203.x http://dx.doi.org/10.1046/j.1523-1755.1998.00203.x DOI 10.1074/jbc.M411491200 http://dx.doi.org/10.1074/jbc.M411491200 DOI 10.1093/hmg/6.8.1233 http://dx.doi.org/10.1093/hmg/6.8.1233 DOI 10.1093/ndt/gfl274 http://dx.doi.org/10.1093/ndt/gfl274 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1523-1755.2004.00571.x http://dx.doi.org/10.1111/j.1523-1755.2004.00571.x DOI 10.1152/ajprenal.90526.2008 http://dx.doi.org/10.1152/ajprenal.90526.2008 DOI 10.1159/000071883 http://dx.doi.org/10.1159/000071883 DOI 10.1159/000111253 http://dx.doi.org/10.1159/000111253 DOI 10.1172/JCI119262 http://dx.doi.org/10.1172/JCI119262 EMBL AK056560 http://www.ebi.ac.uk/ena/data/view/AK056560 EMBL BC130429 http://www.ebi.ac.uk/ena/data/view/BC130429 EMBL BC130431 http://www.ebi.ac.uk/ena/data/view/BC130431 EMBL BK000969 http://www.ebi.ac.uk/ena/data/view/BK000969 EMBL FO393402 http://www.ebi.ac.uk/ena/data/view/FO393402 EMBL X81836 http://www.ebi.ac.uk/ena/data/view/X81836 EMBL X91906 http://www.ebi.ac.uk/ena/data/view/X91906 Ensembl ENST00000307367 http://www.ensembl.org/id/ENST00000307367 Ensembl ENST00000376088 http://www.ensembl.org/id/ENST00000376088 Ensembl ENST00000376091 http://www.ensembl.org/id/ENST00000376091 Ensembl ENST00000376108 http://www.ensembl.org/id/ENST00000376108 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000139 GO_component GO:0005765 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005765 GO_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0010008 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010008 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0045177 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045177 GO_function GO:0005247 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005247 GO_function GO:0005254 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005254 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0015297 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015297 GO_function GO:0031404 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031404 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0007588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007588 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.10.3080.10 http://www.cathdb.info/version/latest/superfamily/1.10.3080.10 GeneCards CLCN5 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CLCN5 GeneID 1184 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=1184 GeneTree ENSGT00760000119109 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119109 HGNC HGNC:2023 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:2023 HOGENOM HOG000164493 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000164493&db=HOGENOM6 HOVERGEN HBG050984 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050984&db=HOVERGEN HPA HPA000401 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA000401 HPA HPA003213 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA003213 InParanoid P51795 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P51795 InterPro IPR000644 http://www.ebi.ac.uk/interpro/entry/IPR000644 InterPro IPR001807 http://www.ebi.ac.uk/interpro/entry/IPR001807 InterPro IPR002247 http://www.ebi.ac.uk/interpro/entry/IPR002247 InterPro IPR014743 http://www.ebi.ac.uk/interpro/entry/IPR014743 Jabion 1184 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=1184 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00214 http://www.genome.jp/dbget-bin/www_bget?H00214 KEGG_Disease H00694 http://www.genome.jp/dbget-bin/www_bget?H00694 KEGG_Gene hsa:1184 http://www.genome.jp/dbget-bin/www_bget?hsa:1184 KEGG_Orthology KO:K05014 http://www.genome.jp/dbget-bin/www_bget?KO:K05014 MIM 300008 http://www.ncbi.nlm.nih.gov/omim/300008 MIM 300009 http://www.ncbi.nlm.nih.gov/omim/300009 MIM 300554 http://www.ncbi.nlm.nih.gov/omim/300554 MIM 308990 http://www.ncbi.nlm.nih.gov/omim/308990 MIM 310468 http://www.ncbi.nlm.nih.gov/omim/310468 MINT MINT-1524912 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1524912 OMA LMDIPGT http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=LMDIPGT Orphanet 93622 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=93622 OrthoDB EOG091G01YH http://cegg.unige.ch/orthodb/results?searchtext=EOG091G01YH PDB 2J9L http://www.ebi.ac.uk/pdbe-srv/view/entry/2J9L PDB 2JA3 http://www.ebi.ac.uk/pdbe-srv/view/entry/2JA3 PDBsum 2J9L http://www.ebi.ac.uk/pdbsum/2J9L PDBsum 2JA3 http://www.ebi.ac.uk/pdbsum/2JA3 PRINTS PR00762 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00762 PRINTS PR01116 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01116 PROSITE PS51371 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51371 PSORT swissprot:CLCN5_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CLCN5_HUMAN PSORT-B swissprot:CLCN5_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CLCN5_HUMAN PSORT2 swissprot:CLCN5_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CLCN5_HUMAN Pfam PF00571 http://pfam.xfam.org/family/PF00571 Pfam PF00654 http://pfam.xfam.org/family/PF00654 PharmGKB PA26550 http://www.pharmgkb.org/do/serve?objId=PA26550&objCls=Gene Phobius swissprot:CLCN5_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CLCN5_HUMAN PhylomeDB P51795 http://phylomedb.org/?seqid=P51795 ProteinModelPortal P51795 http://www.proteinmodelportal.org/query/uniprot/P51795 PubMed 10198195 http://www.ncbi.nlm.nih.gov/pubmed/10198195 PubMed 11136179 http://www.ncbi.nlm.nih.gov/pubmed/11136179 PubMed 12886045 http://www.ncbi.nlm.nih.gov/pubmed/12886045 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15086899 http://www.ncbi.nlm.nih.gov/pubmed/15086899 PubMed 15489223 http://www.ncbi.nlm.nih.gov/pubmed/15489223 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15772651 http://www.ncbi.nlm.nih.gov/pubmed/15772651 PubMed 16247550 http://www.ncbi.nlm.nih.gov/pubmed/16247550 PubMed 16416111 http://www.ncbi.nlm.nih.gov/pubmed/16416111 PubMed 16822791 http://www.ncbi.nlm.nih.gov/pubmed/16822791 PubMed 17195847 http://www.ncbi.nlm.nih.gov/pubmed/17195847 PubMed 17262170 http://www.ncbi.nlm.nih.gov/pubmed/17262170 PubMed 18025833 http://www.ncbi.nlm.nih.gov/pubmed/18025833 PubMed 19019917 http://www.ncbi.nlm.nih.gov/pubmed/19019917 PubMed 19657328 http://www.ncbi.nlm.nih.gov/pubmed/19657328 PubMed 21305656 http://www.ncbi.nlm.nih.gov/pubmed/21305656 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 7874126 http://www.ncbi.nlm.nih.gov/pubmed/7874126 PubMed 8559248 http://www.ncbi.nlm.nih.gov/pubmed/8559248 PubMed 8575751 http://www.ncbi.nlm.nih.gov/pubmed/8575751 PubMed 9062355 http://www.ncbi.nlm.nih.gov/pubmed/9062355 PubMed 9187673 http://www.ncbi.nlm.nih.gov/pubmed/9187673 PubMed 9259268 http://www.ncbi.nlm.nih.gov/pubmed/9259268 PubMed 9602200 http://www.ncbi.nlm.nih.gov/pubmed/9602200 PubMed 9853249 http://www.ncbi.nlm.nih.gov/pubmed/9853249 Reactome R-HSA-2672351 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2672351 RefSeq NP_000075 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000075 RefSeq NP_001121370 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001121370 RefSeq NP_001121371 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001121371 RefSeq NP_001269092 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001269092 SMART SM00116 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00116 SMR P51795 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P51795 STRING 9606.ENSP00000365256 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000365256&targetmode=cogs SUPFAM SSF81340 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81340 UCSC uc004doq http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc004doq&org=rat UniGene Hs.166486 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.166486 UniGene Hs.745501 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.745501 UniProtKB CLCN5_HUMAN http://www.uniprot.org/uniprot/CLCN5_HUMAN UniProtKB-AC P51795 http://www.uniprot.org/uniprot/P51795 charge swissprot:CLCN5_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CLCN5_HUMAN eggNOG COG0038 http://eggnogapi.embl.de/nog_data/html/tree/COG0038 eggNOG KOG0475 http://eggnogapi.embl.de/nog_data/html/tree/KOG0475 epestfind swissprot:CLCN5_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CLCN5_HUMAN garnier swissprot:CLCN5_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CLCN5_HUMAN helixturnhelix swissprot:CLCN5_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CLCN5_HUMAN hmoment swissprot:CLCN5_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CLCN5_HUMAN iep swissprot:CLCN5_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CLCN5_HUMAN inforesidue swissprot:CLCN5_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CLCN5_HUMAN neXtProt NX_P51795 http://www.nextprot.org/db/entry/NX_P51795 octanol swissprot:CLCN5_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CLCN5_HUMAN pepcoil swissprot:CLCN5_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CLCN5_HUMAN pepdigest swissprot:CLCN5_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CLCN5_HUMAN pepinfo swissprot:CLCN5_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CLCN5_HUMAN pepnet swissprot:CLCN5_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CLCN5_HUMAN pepstats swissprot:CLCN5_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CLCN5_HUMAN pepwheel swissprot:CLCN5_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CLCN5_HUMAN pepwindow swissprot:CLCN5_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CLCN5_HUMAN sigcleave swissprot:CLCN5_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CLCN5_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S17A5_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NRA2-1; Sequence=Displayed; Name=2; IsoId=Q9NRA2-2; Sequence=VSP_010482, VSP_010483; # AltName S17A5_HUMAN H(+)/nitrate cotransporter # AltName S17A5_HUMAN H(+)/sialic acid cotransporter # AltName S17A5_HUMAN Membrane glycoprotein HP59 # AltName S17A5_HUMAN Solute carrier family 17 member 5 # AltName S17A5_HUMAN Vesicular H(+)/Aspartate-glutamate cotransporter # BioGrid 117710 3 # CCDS CCDS4981 -. [Q9NRA2-1] # CDD cd06174 MFS # ChiTaRS SLC17A5 human # DISEASE S17A5_HUMAN Infantile sialic acid storage disorder (ISSD) [MIM 269920] Severe form of sialic acid storage disease. Affected newborns exhibit visceromegaly, coarse features and failure to thrive immediately after birth. These patients have a shortened life span, usually less than 2 years. {ECO 0000269|PubMed 10581036, ECO 0000269|PubMed 10947946}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE S17A5_HUMAN Salla disease (SD) [MIM 604369] Sialic acid storage disease (SASD). SASDs are autosomal recessive neurodegenerative disorders characterized by hypotonia, cerebellar ataxia and mental retardation. They are caused by a defect in the metabolism of sialic acid which results in increased urinary excretion of unconjugated sialic acid, specifically N-acetylneuraminic acid. Enlarged lysosomes are seen on electron microscopic studies. Clinical symptoms of SD present usually at age less than 1 year and progression is slow. {ECO 0000269|PubMed 10581036, ECO 0000269|PubMed 10947946, ECO 0000269|PubMed 12794687, ECO 0000269|PubMed 21781115}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000355773 ENSP00000348019; ENSG00000119899. [Q9NRA2-1] # FUNCTION S17A5_HUMAN Transports glucuronic acid and free sialic acid out of the lysosome after it is cleaved from sialoglycoconjugates undergoing degradation, this is required for normal CNS myelination. Mediates aspartate and glutamate membrane potential- dependent uptake into synaptic vesicles and synaptic-like microvesicles. Also functions as an electrogenic 2NO(3)(-)/H(+) cotransporter in the plasma membrane of salivary gland acinar cells, mediating the physiological nitrate efflux, 25% of the circulating nitrate ions is typically removed and secreted in saliva. {ECO 0000269|PubMed 10581036, ECO 0000269|PubMed 11751519, ECO 0000269|PubMed 15510212, ECO 0000269|PubMed 21781115, ECO 0000269|PubMed 22778404}. # GO_component GO:0005737 cytoplasm; IDA:HPA. # GO_component GO:0005765 lysosomal membrane; IDA:UniProtKB. # GO_component GO:0005886 plasma membrane; IDA:HPA. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0016020 membrane; TAS:ProtInc. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0030672 synaptic vesicle membrane; IEA:UniProtKB-SubCell. # GO_function GO:0015136 sialic acid transmembrane transporter activity; IDA:MGI. # GO_function S17A5_HUMAN GO 0005351 sugar proton symporter activity; TAS ProtInc. # GO_function S17A5_HUMAN GO 0015538 sialic acid proton symporter activity; TAS Reactome. # GO_process GO:0006811 ion transport; TAS:Reactome. # GO_process GO:0006820 anion transport; TAS:ProtInc. # GO_process GO:0006865 amino acid transport; IEA:UniProtKB-KW. # GO_process GO:0015739 sialic acid transport; IDA:MGI. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # Genevisible Q9NRA2 HS # HGNC HGNC:10933 SLC17A5 # InterPro IPR011701 MFS # InterPro IPR020846 MFS_dom # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02000 Transporters # KEGG_Brite ko02001 Solute carrier family # KEGG_Disease H00147 [Inherited metabolic disease] Sialuria, French type # KEGG_Pathway ko04142 Lysosome # MIM 269920 phenotype # MIM 604322 gene # MIM 604369 phenotype # Organism S17A5_HUMAN Homo sapiens (Human) # Orphanet 309324 Free sialic acid storage disease, infantile form # Orphanet 309331 Intermediate severe Salla disease # Orphanet 309334 Salla disease # PROSITE PS50850 MFS # Pfam PF07690 MFS_1 # Proteomes UP000005640 Chromosome 6 # Reactome R-HSA-4085001 Sialic acid metabolism # Reactome R-HSA-428643 Organic anion transporters # RecName S17A5_HUMAN Sialin # RefSeq NP_036566 NM_012434.4. [Q9NRA2-1] # SEQUENCE CAUTION Sequence=AAF97769.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the major facilitator superfamily. Sodium/anion cotransporter family. {ECO 0000305}. # SUBCELLULAR LOCATION S17A5_HUMAN Cell membrane {ECO 0000269|PubMed 22778404}; Multi-pass membrane protein {ECO 0000269|PubMed 22778404}. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO 0000269|PubMed 21781115}; Multi-pass membrane protein {ECO 0000269|PubMed 21781115}. Lysosome membrane {ECO 0000269|PubMed 17897319}; Multi-pass membrane protein {ECO 0000269|PubMed 17897319}. # SUPFAM SSF103473 SSF103473; 2 # TCDB 2.A.1.14.10 the major facilitator superfamily (mfs) # TISSUE SPECIFICITY S17A5_HUMAN Found in fetal lung and small intestine, and at lower level in fetal skin and muscle. In the adult, detected in placenta, kidney and pancreas. Abundant in the endothelial cells of tumors from ovary, colon, breast and lung, but is not detected in endothelial cells from the corresponding normal tissues. {ECO 0000269|PubMed 10581036, ECO 0000269|PubMed 11751519}. # UCSC uc003phn human. [Q9NRA2-1] # eggNOG ENOG410XPWC LUCA # eggNOG KOG2532 Eukaryota BLAST swissprot:S17A5_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S17A5_HUMAN COXPRESdb 26503 http://coxpresdb.jp/data/gene/26503.shtml CleanEx HS_SLC17A5 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC17A5 DOI 10.1002/ajmg.a.10246 http://dx.doi.org/10.1002/ajmg.a.10246 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/70585 http://dx.doi.org/10.1038/70585 DOI 10.1038/nature02055 http://dx.doi.org/10.1038/nature02055 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1038/sj.emboj.7600464 http://dx.doi.org/10.1038/sj.emboj.7600464 DOI 10.1073/pnas.1116633109 http://dx.doi.org/10.1073/pnas.1116633109 DOI 10.1074/jbc.M110.130716 http://dx.doi.org/10.1074/jbc.M110.130716 DOI 10.1086/303077 http://dx.doi.org/10.1086/303077 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1471-4159.2011.07388.x http://dx.doi.org/10.1111/j.1471-4159.2011.07388.x DOI 10.1111/j.1600-0854.2007.00643.x http://dx.doi.org/10.1111/j.1600-0854.2007.00643.x EMBL AF244577 http://www.ebi.ac.uk/ena/data/view/AF244577 EMBL AJ387747 http://www.ebi.ac.uk/ena/data/view/AJ387747 EMBL AK075320 http://www.ebi.ac.uk/ena/data/view/AK075320 EMBL AL121972 http://www.ebi.ac.uk/ena/data/view/AL121972 EMBL AL121972 http://www.ebi.ac.uk/ena/data/view/AL121972 EMBL AL590428 http://www.ebi.ac.uk/ena/data/view/AL590428 EMBL AL590428 http://www.ebi.ac.uk/ena/data/view/AL590428 EMBL BC020961 http://www.ebi.ac.uk/ena/data/view/BC020961 Ensembl ENST00000355773 http://www.ensembl.org/id/ENST00000355773 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005765 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005765 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0030672 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030672 GO_function GO:0005351 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005351 GO_function GO:0015136 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015136 GO_function GO:0015538 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015538 GO_process GO:0006811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006811 GO_process GO:0006820 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006820 GO_process GO:0006865 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006865 GO_process GO:0015739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015739 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GeneCards SLC17A5 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC17A5 GeneID 26503 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=26503 GeneTree ENSGT00760000119079 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119079 HGNC HGNC:10933 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10933 HOGENOM HOG000230811 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000230811&db=HOGENOM6 HOVERGEN HBG008834 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG008834&db=HOVERGEN HPA HPA044479 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA044479 InParanoid Q9NRA2 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9NRA2 IntAct Q9NRA2 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9NRA2* InterPro IPR011701 http://www.ebi.ac.uk/interpro/entry/IPR011701 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 26503 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=26503 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Disease H00147 http://www.genome.jp/dbget-bin/www_bget?H00147 KEGG_Gene hsa:26503 http://www.genome.jp/dbget-bin/www_bget?hsa:26503 KEGG_Orthology KO:K12301 http://www.genome.jp/dbget-bin/www_bget?KO:K12301 KEGG_Pathway ko04142 http://www.genome.jp/kegg-bin/show_pathway?ko04142 MIM 269920 http://www.ncbi.nlm.nih.gov/omim/269920 MIM 604322 http://www.ncbi.nlm.nih.gov/omim/604322 MIM 604369 http://www.ncbi.nlm.nih.gov/omim/604369 OMA RSSPNED http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=RSSPNED Orphanet 309324 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=309324 Orphanet 309331 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=309331 Orphanet 309334 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=309334 OrthoDB EOG091G06DG http://cegg.unige.ch/orthodb/results?searchtext=EOG091G06DG PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PSORT swissprot:S17A5_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S17A5_HUMAN PSORT-B swissprot:S17A5_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S17A5_HUMAN PSORT2 swissprot:S17A5_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S17A5_HUMAN Pfam PF07690 http://pfam.xfam.org/family/PF07690 PharmGKB PA35824 http://www.pharmgkb.org/do/serve?objId=PA35824&objCls=Gene Phobius swissprot:S17A5_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S17A5_HUMAN PhylomeDB Q9NRA2 http://phylomedb.org/?seqid=Q9NRA2 ProteinModelPortal Q9NRA2 http://www.proteinmodelportal.org/query/uniprot/Q9NRA2 PubMed 10581036 http://www.ncbi.nlm.nih.gov/pubmed/10581036 PubMed 10947946 http://www.ncbi.nlm.nih.gov/pubmed/10947946 PubMed 11751519 http://www.ncbi.nlm.nih.gov/pubmed/11751519 PubMed 12794687 http://www.ncbi.nlm.nih.gov/pubmed/12794687 PubMed 14574404 http://www.ncbi.nlm.nih.gov/pubmed/14574404 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15510212 http://www.ncbi.nlm.nih.gov/pubmed/15510212 PubMed 17897319 http://www.ncbi.nlm.nih.gov/pubmed/17897319 PubMed 20424173 http://www.ncbi.nlm.nih.gov/pubmed/20424173 PubMed 21781115 http://www.ncbi.nlm.nih.gov/pubmed/21781115 PubMed 22778404 http://www.ncbi.nlm.nih.gov/pubmed/22778404 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 Reactome R-HSA-4085001 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-4085001 Reactome R-HSA-428643 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-428643 RefSeq NP_036566 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_036566 STRING 9606.ENSP00000348019 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000348019&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.1.14.10 http://www.tcdb.org/search/result.php?tc=2.A.1.14.10 UCSC uc003phn http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003phn&org=rat UniGene Hs.597422 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.597422 UniProtKB S17A5_HUMAN http://www.uniprot.org/uniprot/S17A5_HUMAN UniProtKB-AC Q9NRA2 http://www.uniprot.org/uniprot/Q9NRA2 charge swissprot:S17A5_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S17A5_HUMAN eggNOG ENOG410XPWC http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XPWC eggNOG KOG2532 http://eggnogapi.embl.de/nog_data/html/tree/KOG2532 epestfind swissprot:S17A5_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S17A5_HUMAN garnier swissprot:S17A5_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S17A5_HUMAN helixturnhelix swissprot:S17A5_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S17A5_HUMAN hmoment swissprot:S17A5_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S17A5_HUMAN iep swissprot:S17A5_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S17A5_HUMAN inforesidue swissprot:S17A5_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S17A5_HUMAN neXtProt NX_Q9NRA2 http://www.nextprot.org/db/entry/NX_Q9NRA2 octanol swissprot:S17A5_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S17A5_HUMAN pepcoil swissprot:S17A5_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S17A5_HUMAN pepdigest swissprot:S17A5_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S17A5_HUMAN pepinfo swissprot:S17A5_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S17A5_HUMAN pepnet swissprot:S17A5_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S17A5_HUMAN pepstats swissprot:S17A5_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S17A5_HUMAN pepwheel swissprot:S17A5_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S17A5_HUMAN pepwindow swissprot:S17A5_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S17A5_HUMAN sigcleave swissprot:S17A5_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S17A5_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS KCNN1_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q92952-1; Sequence=Displayed; Name=2; IsoId=Q92952-2; Sequence=VSP_022501; # AltName KCNN1_HUMAN KCa2.1 # CCDS CCDS67611 -. [Q92952-1] # DrugBank DB00721 Procaine # DrugBank DB01110 Miconazole # Ensembl ENST00000222249 ENSP00000476519; ENSG00000105642. [Q92952-1] # ExpressionAtlas Q92952 baseline and differential # FUNCTION KCNN1_HUMAN Forms a voltage-independent potassium channel activated by intracellular calcium. Activation is followed by membrane hyperpolarization. Thought to regulate neuronal excitability by contributing to the slow component of synaptic afterhyperpolarization. The channel is blocked by apamin (By similarity). {ECO 0000250}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0008076 voltage-gated potassium channel complex; TAS:ProtInc. # GO_component GO:0043025 neuronal cell body; IBA:GO_Central. # GO_function GO:0005516 calmodulin binding; IBA:GO_Central. # GO_function GO:0015269 calcium-activated potassium channel activity; TAS:ProtInc. # GO_function GO:0016286 small conductance calcium-activated potassium channel activity; IBA:GO_Central. # GO_process GO:0006813 potassium ion transport; TAS:ProtInc. # GO_process GO:0007268 chemical synaptic transmission; TAS:ProtInc. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007267 cell-cell signaling # Genevisible Q92952 HS # HGNC HGNC:6290 KCNN1 # InterPro IPR004178 CaM-bd_dom # InterPro IPR013099 K_chnl_dom # InterPro IPR015449 K_chnl_Ca-activ_SK # KEGG_Brite ko04040 Ion channels # MIM 602982 gene # Organism KCNN1_HUMAN Homo sapiens (Human) # PANTHER PTHR10153 PTHR10153 # PRINTS PR01451 SKCHANNEL # Pfam PF02888 CaMBD # Pfam PF03530 SK_channel # Pfam PF07885 Ion_trans_2 # Proteomes UP000005640 Chromosome 19 # Reactome R-HSA-1296052 Ca2+ activated K+ channels # RecName KCNN1_HUMAN Small conductance calcium-activated potassium channel protein 1 # RefSeq NP_002239 NM_002248.4. [Q92952-1] # SIMILARITY Belongs to the potassium channel KCNN family. KCa2.1/KCNN1 subfamily. {ECO 0000305}. # SMART SM01053 CaMBD # SUBCELLULAR LOCATION KCNN1_HUMAN Membrane; Multi-pass membrane protein. # SUBUNIT Heterooligomer. The complex is composed of 4 channel subunits each of which binds to a calmodulin subunit which regulates the channel activity through calcium-binding (By similarity). {ECO 0000250}. # SUPFAM SSF81327 SSF81327 # UCSC uc002nht human. [Q92952-1] BLAST swissprot:KCNN1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCNN1_HUMAN BioCyc ZFISH:ENSG00000105642-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000105642-MONOMER COXPRESdb 3780 http://coxpresdb.jp/data/gene/3780.shtml CleanEx HS_KCNN1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNN1 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.273.5282.1709 http://dx.doi.org/10.1126/science.273.5282.1709 DrugBank DB00721 http://www.drugbank.ca/drugs/DB00721 DrugBank DB01110 http://www.drugbank.ca/drugs/DB01110 EMBL AB198191 http://www.ebi.ac.uk/ena/data/view/AB198191 EMBL AF131940 http://www.ebi.ac.uk/ena/data/view/AF131940 EMBL AF131941 http://www.ebi.ac.uk/ena/data/view/AF131941 EMBL AF131942 http://www.ebi.ac.uk/ena/data/view/AF131942 EMBL AF131943 http://www.ebi.ac.uk/ena/data/view/AF131943 EMBL AF131944 http://www.ebi.ac.uk/ena/data/view/AF131944 EMBL AF131945 http://www.ebi.ac.uk/ena/data/view/AF131945 EMBL AF131946 http://www.ebi.ac.uk/ena/data/view/AF131946 EMBL AF131947 http://www.ebi.ac.uk/ena/data/view/AF131947 EMBL AF131948 http://www.ebi.ac.uk/ena/data/view/AF131948 EMBL BC075037 http://www.ebi.ac.uk/ena/data/view/BC075037 EMBL U69883 http://www.ebi.ac.uk/ena/data/view/U69883 Ensembl ENST00000222249 http://www.ensembl.org/id/ENST00000222249 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0008076 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008076 GO_component GO:0043025 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043025 GO_function GO:0005516 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005516 GO_function GO:0015269 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015269 GO_function GO:0016286 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016286 GO_process GO:0006813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006813 GO_process GO:0007268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007268 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GeneCards KCNN1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNN1 GeneID 3780 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=3780 GeneTree ENSGT00500000044784 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00500000044784 HGNC HGNC:6290 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6290 HOGENOM HOG000276908 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000276908&db=HOGENOM6 HOVERGEN HBG052241 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052241&db=HOVERGEN InParanoid Q92952 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q92952 IntAct Q92952 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q92952* InterPro IPR004178 http://www.ebi.ac.uk/interpro/entry/IPR004178 InterPro IPR013099 http://www.ebi.ac.uk/interpro/entry/IPR013099 InterPro IPR015449 http://www.ebi.ac.uk/interpro/entry/IPR015449 Jabion 3780 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=3780 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:3780 http://www.genome.jp/dbget-bin/www_bget?hsa:3780 KEGG_Orthology KO:K04942 http://www.genome.jp/dbget-bin/www_bget?KO:K04942 MIM 602982 http://www.ncbi.nlm.nih.gov/omim/602982 OMA IAMNTCK http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=IAMNTCK PANTHER PTHR10153 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10153 PRINTS PR01451 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01451 PSORT swissprot:KCNN1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCNN1_HUMAN PSORT-B swissprot:KCNN1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCNN1_HUMAN PSORT2 swissprot:KCNN1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCNN1_HUMAN Pfam PF02888 http://pfam.xfam.org/family/PF02888 Pfam PF03530 http://pfam.xfam.org/family/PF03530 Pfam PF07885 http://pfam.xfam.org/family/PF07885 PharmGKB PA30070 http://www.pharmgkb.org/do/serve?objId=PA30070&objCls=Gene Phobius swissprot:KCNN1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCNN1_HUMAN PhylomeDB Q92952 http://phylomedb.org/?seqid=Q92952 ProteinModelPortal Q92952 http://www.proteinmodelportal.org/query/uniprot/Q92952 PubMed 10516439 http://www.ncbi.nlm.nih.gov/pubmed/10516439 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 8781233 http://www.ncbi.nlm.nih.gov/pubmed/8781233 Reactome R-HSA-1296052 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1296052 RefSeq NP_002239 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_002239 SMART SM01053 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM01053 SMR Q92952 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q92952 SUPFAM SSF81327 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81327 UCSC uc002nht http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002nht&org=rat UniGene Hs.158173 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.158173 UniProtKB KCNN1_HUMAN http://www.uniprot.org/uniprot/KCNN1_HUMAN UniProtKB-AC Q92952 http://www.uniprot.org/uniprot/Q92952 charge swissprot:KCNN1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCNN1_HUMAN epestfind swissprot:KCNN1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCNN1_HUMAN garnier swissprot:KCNN1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCNN1_HUMAN helixturnhelix swissprot:KCNN1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCNN1_HUMAN hmoment swissprot:KCNN1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCNN1_HUMAN iep swissprot:KCNN1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCNN1_HUMAN inforesidue swissprot:KCNN1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCNN1_HUMAN neXtProt NX_Q92952 http://www.nextprot.org/db/entry/NX_Q92952 octanol swissprot:KCNN1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCNN1_HUMAN pepcoil swissprot:KCNN1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCNN1_HUMAN pepdigest swissprot:KCNN1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCNN1_HUMAN pepinfo swissprot:KCNN1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCNN1_HUMAN pepnet swissprot:KCNN1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCNN1_HUMAN pepstats swissprot:KCNN1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCNN1_HUMAN pepwheel swissprot:KCNN1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCNN1_HUMAN pepwindow swissprot:KCNN1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCNN1_HUMAN sigcleave swissprot:KCNN1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCNN1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS ATP7A_HUMAN Event=Alternative splicing; Named isoforms=6; Name=4; IsoId=Q04656-1; Sequence=Displayed; Name=1; IsoId=Q04656-2; Sequence=VSP_000419; Name=2; IsoId=Q04656-3; Sequence=VSP_000420; Name=3; Synonyms=2-16; IsoId=Q04656-4; Sequence=VSP_000424; Note=Lacks 6 transmembrane regions and 5 heavy-metal-associated (HMA) domains.; Name=5; IsoId=Q04656-5; Sequence=VSP_000425; Note=Lacks the transmembrane domains 3 and 4. Expressed at a low level in several tissues of normal individuals and is the only isoform found in patients with OHS.; Name=6; Synonyms=NML45; IsoId=Q04656-6; Sequence=VSP_000421, VSP_000422, VSP_000423; Note=Lacks all transmembrane regions and 5 heavy-metal-associated (HMA) domains, but has a putative nuclear localization signal attached at the N-terminus.; # AltName ATP7A_HUMAN Copper pump 1 # AltName ATP7A_HUMAN Menkes disease-associated protein # BRENDA 3.6.3 2681 # BioGrid 107020 22 # CATALYTIC ACTIVITY ATP7A_HUMAN ATP + H(2)O + Cu(+)(Side 1) = ADP + phosphate + Cu(+)(Side 2). # CCDS CCDS35339 -. [Q04656-1] # CCDS CCDS75997 -. [Q04656-5] # CDD cd00371 HMA; 6 # ChiTaRS ATP7A human # DISEASE ATP7A_HUMAN Distal spinal muscular atrophy, X-linked, 3 (DSMAX3) [MIM 300489] A neuromuscular disorder. Distal spinal muscular atrophy, also known as distal hereditary motor neuronopathy, represents a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs. {ECO 0000269|PubMed 20170900}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE ATP7A_HUMAN Menkes disease (MNKD) [MIM 309400] An X-linked recessive disorder of copper metabolism characterized by generalized copper deficiency. MNKD results in progressive neurodegeneration and connective-tissue disturbances focal cerebral and cerebellar degeneration, early growth retardation, peculiar hair, hypopigmentation, cutis laxa, vascular complications and death in early childhood. The clinical features result from the dysfunction of several copper-dependent enzymes. A mild form of the disease has been described, in which cerebellar ataxia and moderate developmental delay predominate. {ECO 0000269|PubMed 10079817, ECO 0000269|PubMed 10319589, ECO 0000269|PubMed 10401004, ECO 0000269|PubMed 11241493, ECO 0000269|PubMed 11350187, ECO 0000269|PubMed 15981243, ECO 0000269|PubMed 21667063, ECO 0000269|PubMed 22992316, ECO 0000269|PubMed 7977350, ECO 0000269|PubMed 8981948}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE ATP7A_HUMAN Occipital horn syndrome (OHS) [MIM 304150] An X-linked recessive disorder of copper metabolism. Common features are unusual facial appearance, skeletal abnormalities, chronic diarrhea and genitourinary defects. The skeletal abnormalities include occipital horns, short, broad clavicles, deformed radii, ulnae and humeri, narrowing of the rib cage, undercalcified long bones with thin cortical walls and coxa valga. {ECO 0000269|PubMed 11431706, ECO 0000269|PubMed 17108763, ECO 0000269|PubMed 21667063, ECO 0000269|PubMed 9246006}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DOMAIN ATP7A_HUMAN The C-terminal di-leucine, 1487-Leu-Leu-1488, is an endocytic targeting signal which functions in retrieving recycling from the plasma membrane to the TGN. Mutation of the di-leucine signal results in the accumulation of the protein in the plasma membrane. # DrugBank DB00515 Cisplatin # DrugBank DB00526 Oxaliplatin # DrugBank DB00958 Carboplatin # Ensembl ENST00000341514 ENSP00000345728; ENSG00000165240 # Ensembl ENST00000343533 ENSP00000343026; ENSG00000165240 # Ensembl ENST00000350425 ENSP00000343678; ENSG00000165240 # FUNCTION ATP7A_HUMAN May supply copper to copper-requiring proteins within the secretory pathway, when localized in the trans-Golgi network. Under conditions of elevated extracellular copper, it relocalized to the plasma membrane where it functions in the efflux of copper from cells. # GO_component GO:0005770 late endosome; IDA:UniProtKB. # GO_component GO:0005783 endoplasmic reticulum; IDA:UniProtKB. # GO_component GO:0005794 Golgi apparatus; IDA:UniProtKB. # GO_component GO:0005802 trans-Golgi network; IDA:UniProtKB. # GO_component GO:0005829 cytosol; IEA:UniProtKB-SubCell. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0016323 basolateral plasma membrane; IDA:UniProtKB. # GO_component GO:0030140 trans-Golgi network transport vesicle; IMP:HGNC. # GO_component GO:0030141 secretory granule; IEA:Ensembl. # GO_component GO:0031526 brush border membrane; IEA:Ensembl. # GO_component GO:0043005 neuron projection; ISS:UniProtKB. # GO_component GO:0043025 neuronal cell body; ISS:UniProtKB. # GO_component GO:0048471 perinuclear region of cytoplasm; IDA:UniProtKB. # GO_function GO:0004008 copper-exporting ATPase activity; ISS:UniProtKB. # GO_function GO:0005375 copper ion transmembrane transporter activity; ISS:UniProtKB. # GO_function GO:0005507 copper ion binding; IDA:UniProtKB. # GO_function GO:0005524 ATP binding; TAS:HGNC. # GO_function GO:0016532 superoxide dismutase copper chaperone activity; ISS:UniProtKB. # GO_function GO:0032767 copper-dependent protein binding; IPI:UniProtKB. # GO_process GO:0001568 blood vessel development; ISS:UniProtKB. # GO_process GO:0001701 in utero embryonic development; IEA:Ensembl. # GO_process GO:0001974 blood vessel remodeling; ISS:UniProtKB. # GO_process GO:0002082 regulation of oxidative phosphorylation; ISS:UniProtKB. # GO_process GO:0006568 tryptophan metabolic process; ISS:UniProtKB. # GO_process GO:0006584 catecholamine metabolic process; ISS:UniProtKB. # GO_process GO:0006825 copper ion transport; IMP:UniProtKB. # GO_process GO:0006878 cellular copper ion homeostasis; IMP:UniProtKB. # GO_process GO:0007005 mitochondrion organization; ISS:UniProtKB. # GO_process GO:0007595 lactation; IEA:Ensembl. # GO_process GO:0007626 locomotory behavior; ISS:UniProtKB. # GO_process GO:0010041 response to iron(III) ion; IEA:Ensembl. # GO_process GO:0010043 response to zinc ion; IEA:Ensembl. # GO_process GO:0010273 detoxification of copper ion; ISS:UniProtKB. # GO_process GO:0015677 copper ion import; ISS:UniProtKB. # GO_process GO:0015679 plasma membrane copper ion transport; IEA:Ensembl. # GO_process GO:0018205 peptidyl-lysine modification; ISS:UniProtKB. # GO_process GO:0019430 removal of superoxide radicals; ISS:UniProtKB. # GO_process GO:0021702 cerebellar Purkinje cell differentiation; ISS:UniProtKB. # GO_process GO:0021860 pyramidal neuron development; ISS:UniProtKB. # GO_process GO:0021954 central nervous system neuron development; ISS:UniProtKB. # GO_process GO:0030198 extracellular matrix organization; ISS:UniProtKB. # GO_process GO:0030199 collagen fibril organization; ISS:UniProtKB. # GO_process GO:0031069 hair follicle morphogenesis; ISS:UniProtKB. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0042093 T-helper cell differentiation; ISS:UniProtKB. # GO_process GO:0042414 epinephrine metabolic process; ISS:UniProtKB. # GO_process GO:0042415 norepinephrine metabolic process; ISS:UniProtKB. # GO_process GO:0042417 dopamine metabolic process; ISS:UniProtKB. # GO_process GO:0042428 serotonin metabolic process; ISS:UniProtKB. # GO_process GO:0043085 positive regulation of catalytic activity; ISS:UniProtKB. # GO_process GO:0043086 negative regulation of catalytic activity; ISS:UniProtKB. # GO_process GO:0043473 pigmentation; ISS:UniProtKB. # GO_process GO:0043588 skin development; ISS:UniProtKB. # GO_process GO:0048251 elastic fiber assembly; ISS:UniProtKB. # GO_process GO:0048286 lung alveolus development; ISS:UniProtKB. # GO_process GO:0048812 neuron projection morphogenesis; ISS:UniProtKB. # GO_process GO:0051216 cartilage development; ISS:UniProtKB. # GO_process GO:0051353 positive regulation of oxidoreductase activity; IDA:UniProtKB. # GO_process GO:0051542 elastin biosynthetic process; ISS:UniProtKB. # GO_process GO:0060003 copper ion export; ISS:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005768 endosome # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_component GO:0005794 Golgi apparatus # GOslim_component GO:0005829 cytosol # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0031410 cytoplasmic vesicle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0030234 enzyme regulator activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0002376 immune system process # GOslim_process GO:0006464 cellular protein modification process # GOslim_process GO:0006520 cellular amino acid metabolic process # GOslim_process GO:0006810 transport # GOslim_process GO:0007005 mitochondrion organization # GOslim_process GO:0007155 cell adhesion # GOslim_process GO:0008150 biological_process # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0009790 embryo development # GOslim_process GO:0022607 cellular component assembly # GOslim_process GO:0030154 cell differentiation # GOslim_process GO:0030198 extracellular matrix organization # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0043473 pigmentation # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0055085 transmembrane transport # Gene3D 2.70.150.10 -; 1. # Gene3D 3.40.1110.10 -; 2. # Gene3D 3.40.50.1000 -; 2. # Genevisible Q04656 HS # HGNC HGNC:869 ATP7A # INTERACTION ATP7A_HUMAN Q5EBL8 PDZD11; NbExp=4; IntAct=EBI-7706409, EBI-1644207; # IntAct Q04656 4 # InterPro IPR001757 P_typ_ATPase # InterPro IPR006121 HMA_dom # InterPro IPR006122 HMA_Cu_ion-bd # InterPro IPR008250 ATPase_P-typ_transduc_dom_A # InterPro IPR017969 Heavy-metal-associated_CS # InterPro IPR018303 ATPase_P-typ_P_site # InterPro IPR023214 HAD-like_dom # InterPro IPR023299 ATPase_P-typ_cyto_domN # InterPro IPR027256 P-typ_ATPase_IB # KEGG_Brite ko01000 Enzymes # KEGG_Disease H00209 [Inherited metabolic disease; Nervous system disease; Skin and connective tissue disease] Menkes kinky hair syndrome # KEGG_Disease H00455 [Neurodegenerative disease] SMA proximal adult autosomal dominant (SMAPAD) # KEGG_Disease H00557 [Developmental disorder; Skin and connective tissue disease] Wrinkly skin syndrome # KEGG_Disease H00856 [Nervous system disease] Distal hereditary motor neuropathies (dHMN) # MIM 300011 gene # MIM 300489 phenotype # MIM 304150 phenotype # MIM 309400 phenotype # Organism ATP7A_HUMAN Homo sapiens (Human) # Orphanet 139557 X-linked distal spinal muscular atrophy # Orphanet 198 Occipital horn syndrome # Orphanet 565 Menkes disease # PDB 1AW0 NMR; -; A=375-446 # PDB 1KVI NMR; -; A=1-79 # PDB 1KVJ NMR; -; A=1-79 # PDB 1Q8L NMR; -; A=164-246 # PDB 1S6O NMR; -; A=169-240 # PDB 1S6U NMR; -; A=169-240 # PDB 1Y3J NMR; -; A=486-558 # PDB 1Y3K NMR; -; A=486-558 # PDB 1YJR NMR; -; A=562-633 # PDB 1YJT NMR; -; A=562-633 # PDB 1YJU NMR; -; A=562-633 # PDB 1YJV NMR; -; A=562-633 # PDB 2AW0 NMR; -; A=375-446 # PDB 2G9O NMR; -; A=275-352 # PDB 2GA7 NMR; -; A=275-352 # PDB 2K1R NMR; -; A=5-77 # PDB 2KIJ NMR; -; A=806-924 # PDB 2KMV NMR; -; A=1051-1231 # PDB 2KMX NMR; -; A=1051-1231 # PDB 3CJK X-ray; 1.80 A; B=7-77 # PDB 5T7L X-ray; 2.83 A; B=7-77 # PIR S36149 S36149 # PROSITE PS00154 ATPASE_E1_E2 # PROSITE PS01047 HMA_1; 6 # PROSITE PS50846 HMA_2; 6 # Pfam PF00122 E1-E2_ATPase # Pfam PF00403 HMA; 6 # Proteomes UP000005640 Chromosome X # Reactome R-HSA-3299685 Detoxification of Reactive Oxygen Species # Reactome R-HSA-6803544 Ion influx/efflux at host-pathogen interface # Reactome R-HSA-936837 Ion transport by P-type ATPases # RecName ATP7A_HUMAN Copper-transporting ATPase 1 # RefSeq NP_000043 NM_000052.6 # RefSeq NP_001269153 NM_001282224.1 # SIMILARITY Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IB subfamily. {ECO 0000305}. # SIMILARITY Contains 6 HMA domains. {ECO:0000255|PROSITE- ProRule PRU00280}. # SUBCELLULAR LOCATION ATP7A_HUMAN Golgi apparatus, trans-Golgi network membrane {ECO 0000269|PubMed 10484781, ECO 0000269|PubMed 9147644, ECO 0000269|PubMed 9467005}; Multi-pass membrane protein {ECO 0000255}. Cell membrane {ECO 0000269|PubMed 10484781, ECO 0000269|PubMed 9147644}; Multi-pass membrane protein {ECO 0000255}. Note=Cycles constitutively between the trans-Golgi network (TGN) and the plasma membrane (PubMed 9147644). Predominantly found in the TGN and relocalized to the plasma membrane in response to elevated copper levels. {ECO 0000269|PubMed 9147644}. # SUBCELLULAR LOCATION ATP7A_HUMAN Isoform 3 Cytoplasm, cytosol {ECO 0000305}. # SUBCELLULAR LOCATION ATP7A_HUMAN Isoform 5 Endoplasmic reticulum {ECO 0000269|PubMed 9467005}. # SUBUNIT ATP7A_HUMAN Monomer. Interacts with PDZD11. Interacts with ATOX1 and COMMD1 (PubMed 21667063). {ECO 0000269|PubMed 16051599, ECO 0000269|PubMed 21667063}. # SUPFAM SSF55008 SSF55008; 6 # SUPFAM SSF56784 SSF56784; 2 # SUPFAM SSF81660 SSF81660; 2 # TCDB 3.A.3.5 the p-type atpase (p-atpase) superfamily # TIGRFAMs TIGR00003 TIGR00003; 6 # TIGRFAMs TIGR01494 ATPase_P-type; 2 # TIGRFAMs TIGR01525 ATPase-IB_hvy # TISSUE SPECIFICITY ATP7A_HUMAN Found in most tissues except liver. Isoform 3 is widely expressed including in liver cell lines. Isoform 1 is expressed in fibroblasts, choriocarcinoma, colon carcinoma and neuroblastoma cell lines. Isoform 2 is expressed in fibroblasts, colon carcinoma and neuroblastoma cell lines. # UCSC uc004ecx human. [Q04656-1] # WEB RESOURCE ATP7A_HUMAN Name=Protein Spotlight; Note=Heavy metal - Issue 79 of February 2007; URL="http //web.expasy.org/spotlight/back_issues/079"; # eggNOG COG2217 LUCA # eggNOG KOG0207 Eukaryota BLAST swissprot:ATP7A_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ATP7A_HUMAN BioCyc ZFISH:HS09205-MONOMER http://biocyc.org/getid?id=ZFISH:HS09205-MONOMER COG COG2217 http://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=COG2217 COXPRESdb 538 http://coxpresdb.jp/data/gene/538.shtml CleanEx HS_ATP7A http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ATP7A DOI 10.1002/1096-8628(2001)9999:9999<::AID-AJMG1167>3.0.CO http://dx.doi.org/10.1002/1096-8628(2001)9999:9999<::AID-AJMG1167>3.0.CO DOI 10.1002/humu.20190 http://dx.doi.org/10.1002/humu.20190 DOI 10.1006/geno.1995.1175 http://dx.doi.org/10.1006/geno.1995.1175 DOI 10.1006/mgme.2001.3169 http://dx.doi.org/10.1006/mgme.2001.3169 DOI 10.1007/s00018-011-0743-1 http://dx.doi.org/10.1007/s00018-011-0743-1 DOI 10.1007/s100380050144 http://dx.doi.org/10.1007/s100380050144 DOI 10.1016/0888-7543(95)80160-N http://dx.doi.org/10.1016/0888-7543(95)80160-N DOI 10.1016/j.ajhg.2010.01.027 http://dx.doi.org/10.1016/j.ajhg.2010.01.027 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/35054550 http://dx.doi.org/10.1038/35054550 DOI 10.1038/nature03440 http://dx.doi.org/10.1038/nature03440 DOI 10.1038/ng0193-14 http://dx.doi.org/10.1038/ng0193-14 DOI 10.1038/ng0193-20 http://dx.doi.org/10.1038/ng0193-20 DOI 10.1038/ng0193-7 http://dx.doi.org/10.1038/ng0193-7 DOI 10.1038/nsb0198-47 http://dx.doi.org/10.1038/nsb0198-47 DOI 10.1042/bj3340071 http://dx.doi.org/10.1042/bj3340071 DOI 10.1042/bj3500855 http://dx.doi.org/10.1042/bj3500855 DOI 10.1074/jbc.M505889200 http://dx.doi.org/10.1074/jbc.M505889200 DOI 10.1086/321290 http://dx.doi.org/10.1086/321290 DOI 10.1086/516852 http://dx.doi.org/10.1086/516852 DOI 10.1093/hmg/6.3.409 http://dx.doi.org/10.1093/hmg/6.3.409 DOI 10.1093/hmg/7.3.465 http://dx.doi.org/10.1093/hmg/7.3.465 DOI 10.1093/hmg/8.11.2107 http://dx.doi.org/10.1093/hmg/8.11.2107 DOI 10.1093/hmg/8.8.1547 http://dx.doi.org/10.1093/hmg/8.8.1547 DOI 10.1097/01.gim.0000245578.94312.1e http://dx.doi.org/10.1097/01.gim.0000245578.94312.1e DOI 10.1126/scisignal.2000007 http://dx.doi.org/10.1126/scisignal.2000007 DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 DOI 10.1186/1471-2431-12-150 http://dx.doi.org/10.1186/1471-2431-12-150 DisProt DP00282 http://www.disprot.org/protein.php?id=DP00282 DrugBank DB00515 http://www.drugbank.ca/drugs/DB00515 DrugBank DB00526 http://www.drugbank.ca/drugs/DB00526 DrugBank DB00958 http://www.drugbank.ca/drugs/DB00958 EC_number EC:3.6.3.54 http://www.genome.jp/dbget-bin/www_bget?EC:3.6.3.54 EMBL AL645821 http://www.ebi.ac.uk/ena/data/view/AL645821 EMBL AY011418 http://www.ebi.ac.uk/ena/data/view/AY011418 EMBL CH471104 http://www.ebi.ac.uk/ena/data/view/CH471104 EMBL L06133 http://www.ebi.ac.uk/ena/data/view/L06133 EMBL L06476 http://www.ebi.ac.uk/ena/data/view/L06476 EMBL U27361 http://www.ebi.ac.uk/ena/data/view/U27361 EMBL U27362 http://www.ebi.ac.uk/ena/data/view/U27362 EMBL U27363 http://www.ebi.ac.uk/ena/data/view/U27363 EMBL U27365 http://www.ebi.ac.uk/ena/data/view/U27365 EMBL U27366 http://www.ebi.ac.uk/ena/data/view/U27366 EMBL U27367 http://www.ebi.ac.uk/ena/data/view/U27367 EMBL U27368 http://www.ebi.ac.uk/ena/data/view/U27368 EMBL U27369 http://www.ebi.ac.uk/ena/data/view/U27369 EMBL U27370 http://www.ebi.ac.uk/ena/data/view/U27370 EMBL U27371 http://www.ebi.ac.uk/ena/data/view/U27371 EMBL U27372 http://www.ebi.ac.uk/ena/data/view/U27372 EMBL U27373 http://www.ebi.ac.uk/ena/data/view/U27373 EMBL U27374 http://www.ebi.ac.uk/ena/data/view/U27374 EMBL U27375 http://www.ebi.ac.uk/ena/data/view/U27375 EMBL U27376 http://www.ebi.ac.uk/ena/data/view/U27376 EMBL U27377 http://www.ebi.ac.uk/ena/data/view/U27377 EMBL U27378 http://www.ebi.ac.uk/ena/data/view/U27378 EMBL U27379 http://www.ebi.ac.uk/ena/data/view/U27379 EMBL U27380 http://www.ebi.ac.uk/ena/data/view/U27380 EMBL U27381 http://www.ebi.ac.uk/ena/data/view/U27381 EMBL X69208 http://www.ebi.ac.uk/ena/data/view/X69208 EMBL X82336 http://www.ebi.ac.uk/ena/data/view/X82336 EMBL X82337 http://www.ebi.ac.uk/ena/data/view/X82337 EMBL X82338 http://www.ebi.ac.uk/ena/data/view/X82338 EMBL X82339 http://www.ebi.ac.uk/ena/data/view/X82339 EMBL X82340 http://www.ebi.ac.uk/ena/data/view/X82340 EMBL X82341 http://www.ebi.ac.uk/ena/data/view/X82341 EMBL X82342 http://www.ebi.ac.uk/ena/data/view/X82342 EMBL X82343 http://www.ebi.ac.uk/ena/data/view/X82343 EMBL X82344 http://www.ebi.ac.uk/ena/data/view/X82344 EMBL X82345 http://www.ebi.ac.uk/ena/data/view/X82345 EMBL X82346 http://www.ebi.ac.uk/ena/data/view/X82346 EMBL X82347 http://www.ebi.ac.uk/ena/data/view/X82347 EMBL X82348 http://www.ebi.ac.uk/ena/data/view/X82348 EMBL X82349 http://www.ebi.ac.uk/ena/data/view/X82349 EMBL X82350 http://www.ebi.ac.uk/ena/data/view/X82350 EMBL X82351 http://www.ebi.ac.uk/ena/data/view/X82351 EMBL X82352 http://www.ebi.ac.uk/ena/data/view/X82352 EMBL X82353 http://www.ebi.ac.uk/ena/data/view/X82353 EMBL X82354 http://www.ebi.ac.uk/ena/data/view/X82354 EMBL X82355 http://www.ebi.ac.uk/ena/data/view/X82355 EMBL X82356 http://www.ebi.ac.uk/ena/data/view/X82356 EMBL Z94753 http://www.ebi.ac.uk/ena/data/view/Z94753 EMBL Z94801 http://www.ebi.ac.uk/ena/data/view/Z94801 ENZYME 3.6.3.54 http://enzyme.expasy.org/EC/3.6.3.54 Ensembl ENST00000341514 http://www.ensembl.org/id/ENST00000341514 Ensembl ENST00000343533 http://www.ensembl.org/id/ENST00000343533 Ensembl ENST00000350425 http://www.ensembl.org/id/ENST00000350425 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005770 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005770 GO_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GO_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GO_component GO:0005802 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005802 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016323 GO_component GO:0030140 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030140 GO_component GO:0030141 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030141 GO_component GO:0031526 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031526 GO_component GO:0043005 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043005 GO_component GO:0043025 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043025 GO_component GO:0048471 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048471 GO_function GO:0004008 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004008 GO_function GO:0005375 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005375 GO_function GO:0005507 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005507 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0016532 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016532 GO_function GO:0032767 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032767 GO_process GO:0001568 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001568 GO_process GO:0001701 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001701 GO_process GO:0001974 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001974 GO_process GO:0002082 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002082 GO_process GO:0006568 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006568 GO_process GO:0006584 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006584 GO_process GO:0006825 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006825 GO_process GO:0006878 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006878 GO_process GO:0007005 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007005 GO_process GO:0007595 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007595 GO_process GO:0007626 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007626 GO_process GO:0010041 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010041 GO_process GO:0010043 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010043 GO_process GO:0010273 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010273 GO_process GO:0015677 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015677 GO_process GO:0015679 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015679 GO_process GO:0018205 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0018205 GO_process GO:0019430 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019430 GO_process GO:0021702 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021702 GO_process GO:0021860 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021860 GO_process GO:0021954 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021954 GO_process GO:0030198 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030198 GO_process GO:0030199 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030199 GO_process GO:0031069 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031069 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0042093 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042093 GO_process GO:0042414 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042414 GO_process GO:0042415 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042415 GO_process GO:0042417 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042417 GO_process GO:0042428 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042428 GO_process GO:0043085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043085 GO_process GO:0043086 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043086 GO_process GO:0043473 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043473 GO_process GO:0043588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043588 GO_process GO:0048251 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048251 GO_process GO:0048286 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048286 GO_process GO:0048812 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048812 GO_process GO:0051216 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051216 GO_process GO:0051353 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051353 GO_process GO:0051542 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051542 GO_process GO:0060003 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060003 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0031410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0030234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030234 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0002376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002376 GOslim_process GO:0006464 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006464 GOslim_process GO:0006520 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006520 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007005 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007005 GOslim_process GO:0007155 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007155 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0009790 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009790 GOslim_process GO:0022607 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022607 GOslim_process GO:0030154 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030154 GOslim_process GO:0030198 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030198 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0043473 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043473 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 2.70.150.10 http://www.cathdb.info/version/latest/superfamily/2.70.150.10 Gene3D 3.40.1110.10 http://www.cathdb.info/version/latest/superfamily/3.40.1110.10 Gene3D 3.40.50.1000 http://www.cathdb.info/version/latest/superfamily/3.40.50.1000 GeneCards ATP7A http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ATP7A GeneID 538 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=538 HGNC HGNC:869 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:869 HOGENOM HOG000250397 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000250397&db=HOGENOM6 HOVERGEN HBG050616 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050616&db=HOVERGEN HPA HPA012887 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA012887 HPA HPA048107 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA048107 InParanoid Q04656 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q04656 IntAct Q04656 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q04656* IntEnz 3.6.3.54 http://www.ebi.ac.uk/intenz/query?cmd=Search&q=3.6.3.54 InterPro IPR001757 http://www.ebi.ac.uk/interpro/entry/IPR001757 InterPro IPR006121 http://www.ebi.ac.uk/interpro/entry/IPR006121 InterPro IPR006122 http://www.ebi.ac.uk/interpro/entry/IPR006122 InterPro IPR008250 http://www.ebi.ac.uk/interpro/entry/IPR008250 InterPro IPR017969 http://www.ebi.ac.uk/interpro/entry/IPR017969 InterPro IPR018303 http://www.ebi.ac.uk/interpro/entry/IPR018303 InterPro IPR023214 http://www.ebi.ac.uk/interpro/entry/IPR023214 InterPro IPR023299 http://www.ebi.ac.uk/interpro/entry/IPR023299 InterPro IPR027256 http://www.ebi.ac.uk/interpro/entry/IPR027256 Jabion 538 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=538 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Disease H00209 http://www.genome.jp/dbget-bin/www_bget?H00209 KEGG_Disease H00455 http://www.genome.jp/dbget-bin/www_bget?H00455 KEGG_Disease H00557 http://www.genome.jp/dbget-bin/www_bget?H00557 KEGG_Disease H00856 http://www.genome.jp/dbget-bin/www_bget?H00856 KEGG_Gene hsa:538 http://www.genome.jp/dbget-bin/www_bget?hsa:538 KEGG_Orthology KO:K01533 http://www.genome.jp/dbget-bin/www_bget?KO:K01533 MIM 300011 http://www.ncbi.nlm.nih.gov/omim/300011 MIM 300489 http://www.ncbi.nlm.nih.gov/omim/300489 MIM 304150 http://www.ncbi.nlm.nih.gov/omim/304150 MIM 309400 http://www.ncbi.nlm.nih.gov/omim/309400 MINT MINT-106053 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-106053 Orphanet 139557 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=139557 Orphanet 198 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=198 Orphanet 565 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=565 OrthoDB EOG091G022E http://cegg.unige.ch/orthodb/results?searchtext=EOG091G022E PDB 1AW0 http://www.ebi.ac.uk/pdbe-srv/view/entry/1AW0 PDB 1KVI http://www.ebi.ac.uk/pdbe-srv/view/entry/1KVI PDB 1KVJ http://www.ebi.ac.uk/pdbe-srv/view/entry/1KVJ PDB 1Q8L http://www.ebi.ac.uk/pdbe-srv/view/entry/1Q8L PDB 1S6O http://www.ebi.ac.uk/pdbe-srv/view/entry/1S6O PDB 1S6U http://www.ebi.ac.uk/pdbe-srv/view/entry/1S6U PDB 1Y3J http://www.ebi.ac.uk/pdbe-srv/view/entry/1Y3J PDB 1Y3K http://www.ebi.ac.uk/pdbe-srv/view/entry/1Y3K PDB 1YJR http://www.ebi.ac.uk/pdbe-srv/view/entry/1YJR PDB 1YJT http://www.ebi.ac.uk/pdbe-srv/view/entry/1YJT PDB 1YJU http://www.ebi.ac.uk/pdbe-srv/view/entry/1YJU PDB 1YJV http://www.ebi.ac.uk/pdbe-srv/view/entry/1YJV PDB 2AW0 http://www.ebi.ac.uk/pdbe-srv/view/entry/2AW0 PDB 2G9O http://www.ebi.ac.uk/pdbe-srv/view/entry/2G9O PDB 2GA7 http://www.ebi.ac.uk/pdbe-srv/view/entry/2GA7 PDB 2K1R http://www.ebi.ac.uk/pdbe-srv/view/entry/2K1R PDB 2KIJ http://www.ebi.ac.uk/pdbe-srv/view/entry/2KIJ PDB 2KMV http://www.ebi.ac.uk/pdbe-srv/view/entry/2KMV PDB 2KMX http://www.ebi.ac.uk/pdbe-srv/view/entry/2KMX PDB 3CJK http://www.ebi.ac.uk/pdbe-srv/view/entry/3CJK PDB 5T7L http://www.ebi.ac.uk/pdbe-srv/view/entry/5T7L PDBsum 1AW0 http://www.ebi.ac.uk/pdbsum/1AW0 PDBsum 1KVI http://www.ebi.ac.uk/pdbsum/1KVI PDBsum 1KVJ http://www.ebi.ac.uk/pdbsum/1KVJ PDBsum 1Q8L http://www.ebi.ac.uk/pdbsum/1Q8L PDBsum 1S6O http://www.ebi.ac.uk/pdbsum/1S6O PDBsum 1S6U http://www.ebi.ac.uk/pdbsum/1S6U PDBsum 1Y3J http://www.ebi.ac.uk/pdbsum/1Y3J PDBsum 1Y3K http://www.ebi.ac.uk/pdbsum/1Y3K PDBsum 1YJR http://www.ebi.ac.uk/pdbsum/1YJR PDBsum 1YJT http://www.ebi.ac.uk/pdbsum/1YJT PDBsum 1YJU http://www.ebi.ac.uk/pdbsum/1YJU PDBsum 1YJV http://www.ebi.ac.uk/pdbsum/1YJV PDBsum 2AW0 http://www.ebi.ac.uk/pdbsum/2AW0 PDBsum 2G9O http://www.ebi.ac.uk/pdbsum/2G9O PDBsum 2GA7 http://www.ebi.ac.uk/pdbsum/2GA7 PDBsum 2K1R http://www.ebi.ac.uk/pdbsum/2K1R PDBsum 2KIJ http://www.ebi.ac.uk/pdbsum/2KIJ PDBsum 2KMV http://www.ebi.ac.uk/pdbsum/2KMV PDBsum 2KMX http://www.ebi.ac.uk/pdbsum/2KMX PDBsum 3CJK http://www.ebi.ac.uk/pdbsum/3CJK PDBsum 5T7L http://www.ebi.ac.uk/pdbsum/5T7L PROSITE PS00154 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00154 PROSITE PS01047 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS01047 PROSITE PS50846 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50846 PSORT swissprot:ATP7A_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ATP7A_HUMAN PSORT-B swissprot:ATP7A_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ATP7A_HUMAN PSORT2 swissprot:ATP7A_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ATP7A_HUMAN Pfam PF00122 http://pfam.xfam.org/family/PF00122 Pfam PF00403 http://pfam.xfam.org/family/PF00403 PharmGKB PA72 http://www.pharmgkb.org/do/serve?objId=PA72&objCls=Gene Phobius swissprot:ATP7A_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ATP7A_HUMAN PhylomeDB Q04656 http://phylomedb.org/?seqid=Q04656 ProteinModelPortal Q04656 http://www.proteinmodelportal.org/query/uniprot/Q04656 PubMed 10079814 http://www.ncbi.nlm.nih.gov/pubmed/10079814 PubMed 10079817 http://www.ncbi.nlm.nih.gov/pubmed/10079817 PubMed 10319589 http://www.ncbi.nlm.nih.gov/pubmed/10319589 PubMed 10401004 http://www.ncbi.nlm.nih.gov/pubmed/10401004 PubMed 10484781 http://www.ncbi.nlm.nih.gov/pubmed/10484781 PubMed 10970802 http://www.ncbi.nlm.nih.gov/pubmed/10970802 PubMed 11214319 http://www.ncbi.nlm.nih.gov/pubmed/11214319 PubMed 11241493 http://www.ncbi.nlm.nih.gov/pubmed/11241493 PubMed 11350187 http://www.ncbi.nlm.nih.gov/pubmed/11350187 PubMed 11431706 http://www.ncbi.nlm.nih.gov/pubmed/11431706 PubMed 15772651 http://www.ncbi.nlm.nih.gov/pubmed/15772651 PubMed 15981243 http://www.ncbi.nlm.nih.gov/pubmed/15981243 PubMed 16051599 http://www.ncbi.nlm.nih.gov/pubmed/16051599 PubMed 17108763 http://www.ncbi.nlm.nih.gov/pubmed/17108763 PubMed 19690332 http://www.ncbi.nlm.nih.gov/pubmed/19690332 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 20170900 http://www.ncbi.nlm.nih.gov/pubmed/20170900 PubMed 21667063 http://www.ncbi.nlm.nih.gov/pubmed/21667063 PubMed 22992316 http://www.ncbi.nlm.nih.gov/pubmed/22992316 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 7490081 http://www.ncbi.nlm.nih.gov/pubmed/7490081 PubMed 7607665 http://www.ncbi.nlm.nih.gov/pubmed/7607665 PubMed 7977350 http://www.ncbi.nlm.nih.gov/pubmed/7977350 PubMed 8490646 http://www.ncbi.nlm.nih.gov/pubmed/8490646 PubMed 8490647 http://www.ncbi.nlm.nih.gov/pubmed/8490647 PubMed 8490659 http://www.ncbi.nlm.nih.gov/pubmed/8490659 PubMed 8981948 http://www.ncbi.nlm.nih.gov/pubmed/8981948 PubMed 9147644 http://www.ncbi.nlm.nih.gov/pubmed/9147644 PubMed 9246006 http://www.ncbi.nlm.nih.gov/pubmed/9246006 PubMed 9437429 http://www.ncbi.nlm.nih.gov/pubmed/9437429 PubMed 9467005 http://www.ncbi.nlm.nih.gov/pubmed/9467005 PubMed 9693104 http://www.ncbi.nlm.nih.gov/pubmed/9693104 Reactome R-HSA-3299685 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-3299685 Reactome R-HSA-6803544 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6803544 Reactome R-HSA-936837 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-936837 RefSeq NP_000043 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000043 RefSeq NP_001269153 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001269153 SMR Q04656 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q04656 STRING 9606.ENSP00000345728 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000345728&targetmode=cogs STRING COG2217 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=COG2217&targetmode=cogs SUPFAM SSF55008 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF55008 SUPFAM SSF56784 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF56784 SUPFAM SSF81660 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81660 TCDB 3.A.3.5 http://www.tcdb.org/search/result.php?tc=3.A.3.5 TIGRFAMs TIGR00003 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00003 TIGRFAMs TIGR01494 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01494 TIGRFAMs TIGR01525 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01525 UCSC uc004ecx http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc004ecx&org=rat UniGene Hs.496414 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.496414 UniGene Hs.733232 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.733232 UniProtKB ATP7A_HUMAN http://www.uniprot.org/uniprot/ATP7A_HUMAN UniProtKB-AC Q04656 http://www.uniprot.org/uniprot/Q04656 charge swissprot:ATP7A_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ATP7A_HUMAN eggNOG COG2217 http://eggnogapi.embl.de/nog_data/html/tree/COG2217 eggNOG KOG0207 http://eggnogapi.embl.de/nog_data/html/tree/KOG0207 epestfind swissprot:ATP7A_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ATP7A_HUMAN garnier swissprot:ATP7A_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ATP7A_HUMAN helixturnhelix swissprot:ATP7A_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ATP7A_HUMAN hmoment swissprot:ATP7A_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ATP7A_HUMAN iep swissprot:ATP7A_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ATP7A_HUMAN inforesidue swissprot:ATP7A_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ATP7A_HUMAN neXtProt NX_Q04656 http://www.nextprot.org/db/entry/NX_Q04656 octanol swissprot:ATP7A_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ATP7A_HUMAN pepcoil swissprot:ATP7A_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ATP7A_HUMAN pepdigest swissprot:ATP7A_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ATP7A_HUMAN pepinfo swissprot:ATP7A_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ATP7A_HUMAN pepnet swissprot:ATP7A_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ATP7A_HUMAN pepstats swissprot:ATP7A_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ATP7A_HUMAN pepwheel swissprot:ATP7A_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ATP7A_HUMAN pepwindow swissprot:ATP7A_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ATP7A_HUMAN sigcleave swissprot:ATP7A_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ATP7A_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=A1H-a; IsoId=O95180-1; Sequence=Displayed; Name=2; Synonyms=A1H-b; IsoId=O95180-2; Sequence=VSP_000949; Note=Ref.4 (CAD12646) sequence is in conflict in position: 1587 K->E. {ECO:0000305}; # AltName CAC1H_HUMAN Low-voltage-activated calcium channel alpha1 3.2 subunit # AltName CAC1H_HUMAN Voltage-gated calcium channel subunit alpha Cav3.2 # BioGrid 114426 5 # CCDS CCDS45375 -. [O95180-1] # CCDS CCDS45376 -. [O95180-2] # ChiTaRS CACNA1H human # DISEASE CAC1H_HUMAN Epilepsy, childhood absence 6 (ECA6) [MIM 611942] A subtype of idiopathic generalized epilepsy characterized by an onset at age 6-7 years, frequent absence seizures (several per day) and bilateral, synchronous, symmetric 3-Hz spike waves on EEG. Tonic-clonic seizures often develop in adolescence. Absence seizures may either remit or persist into adulthood. {ECO 0000269|PubMed 12891677}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. # DISEASE CAC1H_HUMAN Epilepsy, idiopathic generalized 6 (EIG6) [MIM 611942] A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. {ECO 0000269|PubMed 15048902}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. # DOMAIN CAC1H_HUMAN Each of the four internal repeats contains five hydrophobic transmembrane segments (S1, S2, S3, S5, S6) and one positively charged transmembrane segment (S4). S4 segments probably represent the voltage-sensor and are characterized by a series of positively charged amino acids at every third position. # DrugBank DB00270 Isradipine # DrugBank DB00421 Spironolactone # DrugBank DB00568 Cinnarizine # DrugBank DB00909 Zonisamide # DrugBank DB01023 Felodipine # DrugBank DB01054 Nitrendipine # DrugBank DB01115 Nifedipine # DrugBank DB01118 Amiodarone # DrugBank DB01244 Bepridil # DrugBank DB04841 Flunarizine # Ensembl ENST00000348261 ENSP00000334198; ENSG00000196557. [O95180-1] # Ensembl ENST00000358590 ENSP00000351401; ENSG00000196557. [O95180-2] # Ensembl ENST00000565831 ENSP00000455840; ENSG00000196557. [O95180-2] # ExpressionAtlas O95180 baseline and differential # FUNCTION CAC1H_HUMAN Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1H gives rise to T-type calcium currents. T-type calcium channels belong to the "low-voltage activated (LVA)" group and are strongly blocked by nickel and mibefradil. A particularity of this type of channels is an opening at quite negative potentials, and a voltage-dependent inactivation. T-type channels serve pacemaking functions in both central neurons and cardiac nodal cells and support calcium signaling in secretory cells and vascular smooth muscle. They may also be involved in the modulation of firing patterns of neurons which is important for information processing as well as in cell growth processes. # GO_component GO:0005891 voltage-gated calcium channel complex; TAS:ProtInc. # GO_component GO:0016021 integral component of membrane; IDA:BHF-UCL. # GO_function GO:0008332 low voltage-gated calcium channel activity; IDA:BHF-UCL. # GO_function GO:0046872 metal ion binding; IEA:UniProtKB-KW. # GO_function GO:0097110 scaffold protein binding; IPI:BHF-UCL. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0006936 muscle contraction; TAS:ProtInc. # GO_process GO:0007517 muscle organ development; NAS:ProtInc. # GO_process GO:0007520 myoblast fusion; TAS:ProtInc. # GO_process GO:0008016 regulation of heart contraction; TAS:ProtInc. # GO_process GO:0032342 aldosterone biosynthetic process; IMP:UniProtKB. # GO_process GO:0032870 cellular response to hormone stimulus; IEP:UniProtKB. # GO_process GO:0034651 cortisol biosynthetic process; IMP:UniProtKB. # GO_process GO:0035865 cellular response to potassium ion; IEP:UniProtKB. # GO_process GO:0042391 regulation of membrane potential; IDA:BHF-UCL. # GO_process GO:0070509 calcium ion import; IDA:BHF-UCL. # GO_process GO:0086010 membrane depolarization during action potential; IBA:GO_Central. # GO_process GO:2000344 positive regulation of acrosome reaction; IMP:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006629 lipid metabolic process # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0044281 small molecule metabolic process # GOslim_process GO:0048646 anatomical structure formation involved in morphogenesis # GOslim_process GO:0048856 anatomical structure development # Gene3D 1.20.120.350 -; 4. # Genevisible O95180 HS # HGNC HGNC:1395 CACNA1H # IntAct O95180 2 # InterPro IPR005445 VDCC_T_a1 # InterPro IPR005821 Ion_trans_dom # InterPro IPR027359 Channel_four-helix_dom # InterPro IPR030160 VDCC_T_a1H # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04010 MAPK signaling pathway # KEGG_Pathway ko04020 Calcium signaling pathway # KEGG_Pathway ko04713 Circadian entrainment # MIM 607904 gene # MIM 611942 phenotype # Organism CAC1H_HUMAN Homo sapiens (Human) # Orphanet 64280 Childhood absence epilepsy # PANTHER PTHR10037:SF192 PTHR10037:SF192; 4 # PRINTS PR01629 TVDCCALPHA1 # PTM CAC1H_HUMAN In response to raising of intracellular calcium, the T-type channels are activated by CaM-kinase II. # Pfam PF00520 Ion_trans; 4 # Proteomes UP000005640 Chromosome 16 # Reactome R-HSA-419037 NCAM1 interactions # RecName CAC1H_HUMAN Voltage-dependent T-type calcium channel subunit alpha-1H # RefSeq NP_001005407 NM_001005407.1. [O95180-2] # RefSeq NP_066921 NM_021098.2. [O95180-1] # SEQUENCE CAUTION Sequence=AAK61268.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAC42094.1; Type=Erroneous gene model prediction; Evidence={ECO 0000305}; # SIMILARITY Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1H subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION CAC1H_HUMAN Membrane; Multi-pass membrane protein. # TCDB 1.A.1.11 the voltage-gated ion channel (vic) superfamily # TISSUE SPECIFICITY CAC1H_HUMAN Expressed in kidney, liver, heart, brain. Isoform 2 seems to be testis-specific. # UCSC uc002cks human. [O95180-1] # eggNOG COG1226 LUCA # eggNOG ENOG410IP4J Eukaryota BLAST swissprot:CAC1H_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CAC1H_HUMAN BioCyc ZFISH:G66-33641-MONOMER http://biocyc.org/getid?id=ZFISH:G66-33641-MONOMER COXPRESdb 8912 http://coxpresdb.jp/data/gene/8912.shtml CleanEx HS_CACNA1H http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CACNA1H DOI 10.1002/ana.10607 http://dx.doi.org/10.1002/ana.10607 DOI 10.1002/ana.20028 http://dx.doi.org/10.1002/ana.20028 DOI 10.1038/nature03187 http://dx.doi.org/10.1038/nature03187 DOI 10.1046/j.1471-4159.1999.0720791.x http://dx.doi.org/10.1046/j.1471-4159.1999.0720791.x DOI 10.1074/jbc.M105345200 http://dx.doi.org/10.1074/jbc.M105345200 DOI 10.1074/jbc.M109.067660 http://dx.doi.org/10.1074/jbc.M109.067660 DOI 10.1093/hmg/10.4.339 http://dx.doi.org/10.1093/hmg/10.4.339 DOI 10.1161/01.RES.83.1.103 http://dx.doi.org/10.1161/01.RES.83.1.103 DrugBank DB00270 http://www.drugbank.ca/drugs/DB00270 DrugBank DB00421 http://www.drugbank.ca/drugs/DB00421 DrugBank DB00568 http://www.drugbank.ca/drugs/DB00568 DrugBank DB00909 http://www.drugbank.ca/drugs/DB00909 DrugBank DB01023 http://www.drugbank.ca/drugs/DB01023 DrugBank DB01054 http://www.drugbank.ca/drugs/DB01054 DrugBank DB01115 http://www.drugbank.ca/drugs/DB01115 DrugBank DB01118 http://www.drugbank.ca/drugs/DB01118 DrugBank DB01244 http://www.drugbank.ca/drugs/DB01244 DrugBank DB04841 http://www.drugbank.ca/drugs/DB04841 EMBL AC120498 http://www.ebi.ac.uk/ena/data/view/AC120498 EMBL AE006466 http://www.ebi.ac.uk/ena/data/view/AE006466 EMBL AF051946 http://www.ebi.ac.uk/ena/data/view/AF051946 EMBL AF073931 http://www.ebi.ac.uk/ena/data/view/AF073931 EMBL AF223562 http://www.ebi.ac.uk/ena/data/view/AF223562 EMBL AF223563 http://www.ebi.ac.uk/ena/data/view/AF223563 EMBL AJ420779 http://www.ebi.ac.uk/ena/data/view/AJ420779 EMBL AL031703 http://www.ebi.ac.uk/ena/data/view/AL031703 Ensembl ENST00000348261 http://www.ensembl.org/id/ENST00000348261 Ensembl ENST00000358590 http://www.ensembl.org/id/ENST00000358590 Ensembl ENST00000565831 http://www.ensembl.org/id/ENST00000565831 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005891 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005891 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0008332 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008332 GO_function GO:0046872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046872 GO_function GO:0097110 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097110 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0006936 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006936 GO_process GO:0007517 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007517 GO_process GO:0007520 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007520 GO_process GO:0008016 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008016 GO_process GO:0032342 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032342 GO_process GO:0032870 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032870 GO_process GO:0034651 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034651 GO_process GO:0035865 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035865 GO_process GO:0042391 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042391 GO_process GO:0070509 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070509 GO_process GO:0086010 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086010 GO_process GO:2000344 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000344 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006629 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006629 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GOslim_process GO:0048646 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048646 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 Gene3D 1.20.120.350 http://www.cathdb.info/version/latest/superfamily/1.20.120.350 GeneCards CACNA1H http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CACNA1H GeneID 8912 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=8912 GeneTree ENSGT00830000128242 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00830000128242 H-InvDB HIX0038538 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0038538 HGNC HGNC:1395 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:1395 HOVERGEN HBG050764 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050764&db=HOVERGEN HPA HPA039125 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA039125 InParanoid O95180 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O95180 IntAct O95180 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O95180* InterPro IPR005445 http://www.ebi.ac.uk/interpro/entry/IPR005445 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR027359 http://www.ebi.ac.uk/interpro/entry/IPR027359 InterPro IPR030160 http://www.ebi.ac.uk/interpro/entry/IPR030160 Jabion 8912 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=8912 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:8912 http://www.genome.jp/dbget-bin/www_bget?hsa:8912 KEGG_Orthology KO:K04855 http://www.genome.jp/dbget-bin/www_bget?KO:K04855 KEGG_Pathway ko04010 http://www.genome.jp/kegg-bin/show_pathway?ko04010 KEGG_Pathway ko04020 http://www.genome.jp/kegg-bin/show_pathway?ko04020 KEGG_Pathway ko04713 http://www.genome.jp/kegg-bin/show_pathway?ko04713 MIM 607904 http://www.ncbi.nlm.nih.gov/omim/607904 MIM 611942 http://www.ncbi.nlm.nih.gov/omim/611942 OMA KMYSLAV http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=KMYSLAV Orphanet 64280 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=64280 OrthoDB EOG091G02L1 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G02L1 PANTHER PTHR10037:SF192 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10037:SF192 PRINTS PR01629 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01629 PSORT swissprot:CAC1H_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CAC1H_HUMAN PSORT-B swissprot:CAC1H_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CAC1H_HUMAN PSORT2 swissprot:CAC1H_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CAC1H_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 PharmGKB PA380 http://www.pharmgkb.org/do/serve?objId=PA380&objCls=Gene Phobius swissprot:CAC1H_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CAC1H_HUMAN PhylomeDB O95180 http://phylomedb.org/?seqid=O95180 ProteinModelPortal O95180 http://www.proteinmodelportal.org/query/uniprot/O95180 PubMed 11157797 http://www.ncbi.nlm.nih.gov/pubmed/11157797 PubMed 11751928 http://www.ncbi.nlm.nih.gov/pubmed/11751928 PubMed 12891677 http://www.ncbi.nlm.nih.gov/pubmed/12891677 PubMed 15048902 http://www.ncbi.nlm.nih.gov/pubmed/15048902 PubMed 15616553 http://www.ncbi.nlm.nih.gov/pubmed/15616553 PubMed 19940152 http://www.ncbi.nlm.nih.gov/pubmed/19940152 PubMed 9670923 http://www.ncbi.nlm.nih.gov/pubmed/9670923 PubMed 9930755 http://www.ncbi.nlm.nih.gov/pubmed/9930755 Reactome R-HSA-419037 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-419037 RefSeq NP_001005407 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001005407 RefSeq NP_066921 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_066921 STRING 9606.ENSP00000334198 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000334198&targetmode=cogs TCDB 1.A.1.11 http://www.tcdb.org/search/result.php?tc=1.A.1.11 UCSC uc002cks http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002cks&org=rat UniGene Hs.459642 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.459642 UniProtKB CAC1H_HUMAN http://www.uniprot.org/uniprot/CAC1H_HUMAN UniProtKB-AC O95180 http://www.uniprot.org/uniprot/O95180 charge swissprot:CAC1H_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CAC1H_HUMAN eggNOG COG1226 http://eggnogapi.embl.de/nog_data/html/tree/COG1226 eggNOG ENOG410IP4J http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IP4J epestfind swissprot:CAC1H_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CAC1H_HUMAN garnier swissprot:CAC1H_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CAC1H_HUMAN helixturnhelix swissprot:CAC1H_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CAC1H_HUMAN hmoment swissprot:CAC1H_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CAC1H_HUMAN iep swissprot:CAC1H_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CAC1H_HUMAN inforesidue swissprot:CAC1H_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CAC1H_HUMAN neXtProt NX_O95180 http://www.nextprot.org/db/entry/NX_O95180 octanol swissprot:CAC1H_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CAC1H_HUMAN pepcoil swissprot:CAC1H_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CAC1H_HUMAN pepdigest swissprot:CAC1H_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CAC1H_HUMAN pepinfo swissprot:CAC1H_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CAC1H_HUMAN pepnet swissprot:CAC1H_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CAC1H_HUMAN pepstats swissprot:CAC1H_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CAC1H_HUMAN pepwheel swissprot:CAC1H_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CAC1H_HUMAN pepwindow swissprot:CAC1H_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CAC1H_HUMAN sigcleave swissprot:CAC1H_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CAC1H_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS SL9A6_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q92581-1; Sequence=Displayed; Name=2; IsoId=Q92581-2; Sequence=VSP_042030; Name=3; IsoId=Q92581-3; Sequence=VSP_044868, VSP_042030; Note=No experimental confirmation available.; # AltName SL9A6_HUMAN Na(+)/H(+) exchanger 6 # AltName SL9A6_HUMAN Solute carrier family 9 member 6 # BioGrid 115742 30 # CAUTION SL9A6_HUMAN Was originally (PubMed 9507001) identified as a mitochondrial inner membrane protein, but was later shown to be localized in early and recycling endosomes and not mitochondria (PubMed 11940519). {ECO 0000305|PubMed 11940519, ECO 0000305|PubMed 9507001}. # CCDS CCDS14654 -. [Q92581-1] # CCDS CCDS44003 -. [Q92581-2] # CCDS CCDS55504 -. [Q92581-3] # DISEASE SL9A6_HUMAN Mental retardation, X-linked, syndromic, Christianson type (MRXSCH) [MIM 300243] A syndrome characterized by profound mental retardation, epilepsy, ataxia, and microcephaly. It shows phenotypic overlap with Angelman syndrome. {ECO 0000269|PubMed 18342287, ECO 0000269|PubMed 24123876}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000370695 ENSP00000359729; ENSG00000198689. [Q92581-2] # Ensembl ENST00000370698 ENSP00000359732; ENSG00000198689. [Q92581-1] # Ensembl ENST00000370701 ENSP00000359735; ENSG00000198689. [Q92581-3] # Ensembl ENST00000636092 ENSP00000490406; ENSG00000198689. [Q92581-3] # Ensembl ENST00000636347 ENSP00000490648; ENSG00000198689. [Q92581-3] # Ensembl ENST00000637234 ENSP00000490527; ENSG00000198689. [Q92581-3] # Ensembl ENST00000637581 ENSP00000490731; ENSG00000198689. [Q92581-3] # ExpressionAtlas Q92581 baseline and differential # FUNCTION SL9A6_HUMAN Electroneutral exchange of protons for Na(+) and K(+) across the early and recycling endosome membranes. Contributes to calcium homeostasis. # GO_component GO:0005770 late endosome; IEA:Ensembl. # GO_component GO:0005789 endoplasmic reticulum membrane; IDA:UniProtKB. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0030425 dendrite; IEA:Ensembl. # GO_component GO:0031410 cytoplasmic vesicle; IEA:Ensembl. # GO_component GO:0031901 early endosome membrane; IDA:UniProtKB. # GO_component GO:0043231 intracellular membrane-bounded organelle; IDA:HPA. # GO_component GO:0043679 axon terminus; IEA:Ensembl. # GO_component GO:0044308 axonal spine; IEA:Ensembl. # GO_component GO:0045202 synapse; IEA:Ensembl. # GO_component GO:0055038 recycling endosome membrane; IDA:UniProtKB. # GO_function SL9A6_HUMAN GO 0015385 sodium proton antiporter activity; TAS Reactome. # GO_function SL9A6_HUMAN GO 0015386 potassium proton antiporter activity; IBA GO_Central. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0006811 ion transport; TAS:Reactome. # GO_process GO:0031547 brain-derived neurotrophic factor receptor signaling pathway; IEA:Ensembl. # GO_process GO:0048675 axon extension; IDA:MGI. # GO_process GO:0048812 neuron projection morphogenesis; IDA:MGI. # GO_process GO:0050808 synapse organization; IEA:Ensembl. # GO_process GO:0051386 regulation of neurotrophin TRK receptor signaling pathway; IEA:Ensembl. # GO_process GO:0051453 regulation of intracellular pH; IBA:GO_Central. # GO_process GO:0060996 dendritic spine development; IEA:Ensembl. # GO_process GO:0071805 potassium ion transmembrane transport; IBA:GO_Central. # GO_process GO:0097484 dendrite extension; IDA:MGI. # GO_process GO:0098719 sodium ion import across plasma membrane; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005768 endosome # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0031410 cytoplasmic vesicle # GOslim_component GO:0043226 organelle # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0040007 growth # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0055085 transmembrane transport # Genevisible Q92581 HS # HGNC HGNC:11079 SLC9A6 # InterPro IPR002090 Na/H_exchanger_6 # InterPro IPR004709 NaH_exchanger # InterPro IPR006153 Cation/H_exchanger # InterPro IPR018422 Cation/H_exchanger_CPA1 # KEGG_Brite ko02001 Solute carrier family # KEGG_Disease H00577 [Congenital disorder; Mental retardation; Epilepsy] Rolandic epilepsy # MIM 300231 gene # MIM 300243 phenotype # Organism SL9A6_HUMAN Homo sapiens (Human) # Orphanet 85278 Christianson syndrome # PANTHER PTHR10110 PTHR10110 # PRINTS PR01084 NAHEXCHNGR # PRINTS PR01088 NAHEXCHNGR6 # Pfam PF00999 Na_H_Exchanger # Proteomes UP000005640 Chromosome X # Reactome R-HSA-425986 Sodium/Proton exchangers # RecName SL9A6_HUMAN Sodium/hydrogen exchanger 6 # RefSeq NP_001036002 NM_001042537.1. [Q92581-2] # RefSeq NP_001171122 NM_001177651.1. [Q92581-3] # RefSeq NP_006350 NM_006359.2. [Q92581-1] # RefSeq XP_006724789 XM_006724726.3. [Q92581-3] # RefSeq XP_016884712 XM_017029223.1. [Q92581-3] # RefSeq XP_016884713 XM_017029224.1. [Q92581-3] # SIMILARITY Belongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family. {ECO 0000305}. # SUBCELLULAR LOCATION SL9A6_HUMAN Endosome membrane {ECO 0000269|PubMed 11940519}; Multi-pass membrane protein {ECO 0000269|PubMed 11940519}. Note=Is present in the recycling compartments including early and recycling endosomes, and only appears transiently on the plasma membrane. # TCDB 2.A.36.1.14:the monovalent cation proton antiporter-1 (cpa1) family # TIGRFAMs TIGR00840 b_cpa1 # TISSUE SPECIFICITY SL9A6_HUMAN Ubiquitous; but is most abundant in mitochondrion-rich tissues such as brain, skeletal muscle and heart. # UCSC uc004ezj human. [Q92581-1] # eggNOG COG0025 LUCA # eggNOG KOG1965 Eukaryota BLAST swissprot:SL9A6_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SL9A6_HUMAN BioCyc ZFISH:G66-33153-MONOMER http://biocyc.org/getid?id=ZFISH:G66-33153-MONOMER COXPRESdb 10479 http://coxpresdb.jp/data/gene/10479.shtml CleanEx HS_SLC9A6 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC9A6 DOI 10.1002/pmic.200600410 http://dx.doi.org/10.1002/pmic.200600410 DOI 10.1016/j.ajhg.2008.01.013 http://dx.doi.org/10.1016/j.ajhg.2008.01.013 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/pr8008012 http://dx.doi.org/10.1021/pr8008012 DOI 10.1038/nature03440 http://dx.doi.org/10.1038/nature03440 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.273.12.6951 http://dx.doi.org/10.1074/jbc.273.12.6951 DOI 10.1093/dnares/3.5.321 http://dx.doi.org/10.1093/dnares/3.5.321 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1136/jmedgenet-2013-101644 http://dx.doi.org/10.1136/jmedgenet-2013-101644 DOI 10.1152/ajpcell.00420.2001 http://dx.doi.org/10.1152/ajpcell.00420.2001 EMBL AF030409 http://www.ebi.ac.uk/ena/data/view/AF030409 EMBL AK289775 http://www.ebi.ac.uk/ena/data/view/AK289775 EMBL AK300475 http://www.ebi.ac.uk/ena/data/view/AK300475 EMBL AK316255 http://www.ebi.ac.uk/ena/data/view/AK316255 EMBL AL732579 http://www.ebi.ac.uk/ena/data/view/AL732579 EMBL AL732579 http://www.ebi.ac.uk/ena/data/view/AL732579 EMBL AL732579 http://www.ebi.ac.uk/ena/data/view/AL732579 EMBL BC035029 http://www.ebi.ac.uk/ena/data/view/BC035029 EMBL BC049169 http://www.ebi.ac.uk/ena/data/view/BC049169 EMBL D87743 http://www.ebi.ac.uk/ena/data/view/D87743 Ensembl ENST00000370695 http://www.ensembl.org/id/ENST00000370695 Ensembl ENST00000370698 http://www.ensembl.org/id/ENST00000370698 Ensembl ENST00000370701 http://www.ensembl.org/id/ENST00000370701 Ensembl ENST00000636092 http://www.ensembl.org/id/ENST00000636092 Ensembl ENST00000636347 http://www.ensembl.org/id/ENST00000636347 Ensembl ENST00000637234 http://www.ensembl.org/id/ENST00000637234 Ensembl ENST00000637581 http://www.ensembl.org/id/ENST00000637581 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005770 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005770 GO_component GO:0005789 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005789 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0030425 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030425 GO_component GO:0031410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410 GO_component GO:0031901 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031901 GO_component GO:0043231 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043231 GO_component GO:0043679 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043679 GO_component GO:0044308 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044308 GO_component GO:0045202 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045202 GO_component GO:0055038 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055038 GO_function GO:0015385 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015385 GO_function GO:0015386 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015386 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0006811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006811 GO_process GO:0031547 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031547 GO_process GO:0048675 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048675 GO_process GO:0048812 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048812 GO_process GO:0050808 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050808 GO_process GO:0051386 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051386 GO_process GO:0051453 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051453 GO_process GO:0060996 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060996 GO_process GO:0071805 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071805 GO_process GO:0097484 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097484 GO_process GO:0098719 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0098719 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0031410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0040007 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0040007 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC9A6 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC9A6 GeneID 10479 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=10479 GeneTree ENSGT00760000119074 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119074 HGNC HGNC:11079 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11079 HOGENOM HOG000172307 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000172307&db=HOGENOM6 HOVERGEN HBG055575 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG055575&db=HOVERGEN HPA HPA059445 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA059445 HPA HPA059590 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA059590 InParanoid Q92581 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q92581 InterPro IPR002090 http://www.ebi.ac.uk/interpro/entry/IPR002090 InterPro IPR004709 http://www.ebi.ac.uk/interpro/entry/IPR004709 InterPro IPR006153 http://www.ebi.ac.uk/interpro/entry/IPR006153 InterPro IPR018422 http://www.ebi.ac.uk/interpro/entry/IPR018422 Jabion 10479 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=10479 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Disease H00577 http://www.genome.jp/dbget-bin/www_bget?H00577 KEGG_Gene hsa:10479 http://www.genome.jp/dbget-bin/www_bget?hsa:10479 KEGG_Orthology KO:K12041 http://www.genome.jp/dbget-bin/www_bget?KO:K12041 MIM 300231 http://www.ncbi.nlm.nih.gov/omim/300231 MIM 300243 http://www.ncbi.nlm.nih.gov/omim/300243 OMA GVFDWAG http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=GVFDWAG Orphanet 85278 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=85278 OrthoDB EOG091G0HN5 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0HN5 PANTHER PTHR10110 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10110 PRINTS PR01084 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01084 PRINTS PR01088 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01088 PSORT swissprot:SL9A6_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SL9A6_HUMAN PSORT-B swissprot:SL9A6_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SL9A6_HUMAN PSORT2 swissprot:SL9A6_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SL9A6_HUMAN Pfam PF00999 http://pfam.xfam.org/family/PF00999 PharmGKB PA35935 http://www.pharmgkb.org/do/serve?objId=PA35935&objCls=Gene Phobius swissprot:SL9A6_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SL9A6_HUMAN PhylomeDB Q92581 http://phylomedb.org/?seqid=Q92581 ProteinModelPortal Q92581 http://www.proteinmodelportal.org/query/uniprot/Q92581 PubMed 11940519 http://www.ncbi.nlm.nih.gov/pubmed/11940519 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15772651 http://www.ncbi.nlm.nih.gov/pubmed/15772651 PubMed 17370265 http://www.ncbi.nlm.nih.gov/pubmed/17370265 PubMed 18342287 http://www.ncbi.nlm.nih.gov/pubmed/18342287 PubMed 19159218 http://www.ncbi.nlm.nih.gov/pubmed/19159218 PubMed 24123876 http://www.ncbi.nlm.nih.gov/pubmed/24123876 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 9039502 http://www.ncbi.nlm.nih.gov/pubmed/9039502 PubMed 9507001 http://www.ncbi.nlm.nih.gov/pubmed/9507001 Reactome R-HSA-425986 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-425986 RefSeq NP_001036002 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001036002 RefSeq NP_001171122 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001171122 RefSeq NP_006350 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_006350 RefSeq XP_006724789 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006724789 RefSeq XP_016884712 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016884712 RefSeq XP_016884713 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016884713 SMR Q92581 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q92581 STRING 9606.ENSP00000359729 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000359729&targetmode=cogs TCDB 2.A.36.1.14 http://www.tcdb.org/search/result.php?tc=2.A.36.1.14 TIGRFAMs TIGR00840 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00840 UCSC uc004ezj http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc004ezj&org=rat UniGene Hs.62185 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.62185 UniProtKB SL9A6_HUMAN http://www.uniprot.org/uniprot/SL9A6_HUMAN UniProtKB-AC Q92581 http://www.uniprot.org/uniprot/Q92581 charge swissprot:SL9A6_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SL9A6_HUMAN eggNOG COG0025 http://eggnogapi.embl.de/nog_data/html/tree/COG0025 eggNOG KOG1965 http://eggnogapi.embl.de/nog_data/html/tree/KOG1965 epestfind swissprot:SL9A6_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SL9A6_HUMAN garnier swissprot:SL9A6_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SL9A6_HUMAN helixturnhelix swissprot:SL9A6_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SL9A6_HUMAN hmoment swissprot:SL9A6_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SL9A6_HUMAN iep swissprot:SL9A6_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SL9A6_HUMAN inforesidue swissprot:SL9A6_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SL9A6_HUMAN neXtProt NX_Q92581 http://www.nextprot.org/db/entry/NX_Q92581 octanol swissprot:SL9A6_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SL9A6_HUMAN pepcoil swissprot:SL9A6_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SL9A6_HUMAN pepdigest swissprot:SL9A6_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SL9A6_HUMAN pepinfo swissprot:SL9A6_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SL9A6_HUMAN pepnet swissprot:SL9A6_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SL9A6_HUMAN pepstats swissprot:SL9A6_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SL9A6_HUMAN pepwheel swissprot:SL9A6_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SL9A6_HUMAN pepwindow swissprot:SL9A6_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SL9A6_HUMAN sigcleave swissprot:SL9A6_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SL9A6_HUMAN ## Database ID URL or Descriptions # AltName SO1B1_HUMAN Liver-specific organic anion transporter 1 # AltName SO1B1_HUMAN OATP-C # AltName SO1B1_HUMAN Sodium-independent organic anion-transporting polypeptide 2 # AltName SO1B1_HUMAN Solute carrier family 21 member 6 # BioGrid 115847 9 # CDD cd06174 MFS # ChiTaRS SLCO1B1 human # DISEASE SO1B1_HUMAN Hyperbilirubinemia, Rotor type (HBLRR) [MIM 237450] An autosomal recessive form of primary conjugated hyperbilirubinemia. Affected individuals develop mild jaundice not associated with hemolysis shortly after birth or in childhood. They have delayed plasma clearance of the unconjugated anionic dye bromsulphthalein and prominent urinary excretion of coproporphyrin I. Hepatic pigmentation is normal. {ECO 0000269|PubMed 22232210}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DrugBank DB00091 Cyclosporine # DrugBank DB00175 Pravastatin # DrugBank DB00177 Valsartan # DrugBank DB00213 Pantoprazole # DrugBank DB00220 Nelfinavir # DrugBank DB00224 Indinavir # DrugBank DB00227 Lovastatin # DrugBank DB00275 Olmesartan # DrugBank DB00279 Liothyronine # DrugBank DB00286 Conjugated Estrogens # DrugBank DB00345 Aminohippurate # DrugBank DB00390 Digoxin # DrugBank DB00412 Rosiglitazone # DrugBank DB00451 Levothyroxine # DrugBank DB00503 Ritonavir # DrugBank DB00509 Dextrothyroxine # DrugBank DB00520 Caspofungin # DrugBank DB00563 Methotrexate # DrugBank DB00583 L-Carnitine # DrugBank DB00641 Simvastatin # DrugBank DB00655 Estrone # DrugBank DB00661 Verapamil # DrugBank DB00669 Sumatriptan # DrugBank DB00688 Mycophenolate mofetil # DrugBank DB00762 Irinotecan # DrugBank DB00783 Estradiol # DrugBank DB00859 Penicillamine # DrugBank DB00877 Sirolimus # DrugBank DB00908 Quinidine # DrugBank DB00912 Repaglinide # DrugBank DB00917 Dinoprostone # DrugBank DB00950 Fexofenadine # DrugBank DB00973 Ezetimibe # DrugBank DB01045 Rifampicin # DrugBank DB01053 Benzylpenicillin # DrugBank DB01076 Atorvastatin # DrugBank DB01092 Ouabain # DrugBank DB01095 Fluvastatin # DrugBank DB01098 Rosuvastatin # DrugBank DB01132 Pioglitazone # DrugBank DB01211 Clarithromycin # DrugBank DB01232 Saquinavir # DrugBank DB01241 Gemfibrozil # DrugBank DB01393 Bezafibrate # DrugBank DB01583 Liotrix # DrugBank DB02659 Cholic Acid # DrugBank DB05239 Cobimetinib # DrugBank DB06151 Acetylcysteine # DrugBank DB06210 Eltrombopag # DrugBank DB06290 Simeprevir # DrugBank DB06403 Ambrisentan # DrugBank DB06589 Pazopanib # DrugBank DB06626 Axitinib # DrugBank DB06772 Cabazitaxel # DrugBank DB08860 Pitavastatin # DrugBank DB08864 Rilpivirine # DrugBank DB08884 Gadoxetate # DrugBank DB08912 Dabrafenib # DrugBank DB09054 Idelalisib # DrugBank DB09102 Daclatasvir # DrugBank DB09272 Eluxadoline # DrugBank DB09292 Sacubitril # DrugBank DB11362 Selexipag # Ensembl ENST00000256958 ENSP00000256958; ENSG00000134538 # ExpressionAtlas Q9Y6L6 baseline and differential # FUNCTION SO1B1_HUMAN Mediates the Na(+)-independent uptake of organic anions such as pravastatin, taurocholate, methotrexate, dehydroepiandrosterone sulfate, 17-beta-glucuronosyl estradiol, estrone sulfate, prostaglandin E2, thromboxane B2, leukotriene C3, leukotriene E4, thyroxine and triiodothyronine. Involved in the clearance of bile acids and organic anions from the liver. {ECO 0000269|PubMed 10358072, ECO 0000269|PubMed 10601278, ECO 0000269|PubMed 12196548, ECO 0000269|PubMed 22232210}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0016020 membrane; TAS:ProtInc. # GO_component GO:0016323 basolateral plasma membrane; IEA:UniProtKB-SubCell. # GO_function GO:0015125 bile acid transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015347 sodium-independent organic anion transmembrane transporter activity; TAS:ProtInc. # GO_function GO:0015349 thyroid hormone transmembrane transporter activity; TAS:Reactome. # GO_process GO:0008206 bile acid metabolic process; IBA:GO_Central. # GO_process GO:0015711 organic anion transport; TAS:ProtInc. # GO_process GO:0015721 bile acid and bile salt transport; TAS:Reactome. # GO_process GO:0043252 sodium-independent organic anion transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006629 lipid metabolic process # GOslim_process GO:0006810 transport # GOslim_process GO:0044281 small molecule metabolic process # Genevisible Q9Y6L6 HS # HGNC HGNC:10959 SLCO1B1 # InterPro IPR002350 Kazal_dom # InterPro IPR004156 OA_transporter # InterPro IPR020846 MFS_dom # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02001 Solute carrier family # KEGG_Pathway ko04976 Bile secretion # MIM 237450 phenotype # MIM 604843 gene # Organism SO1B1_HUMAN Homo sapiens (Human) # Orphanet 3111 Rotor syndrome # Orphanet 413696 Statin toxicity # PANTHER PTHR11388 PTHR11388 # PROSITE PS50850 MFS # PROSITE PS51465 KAZAL_2 # Pfam PF03137 OATP # Pfam PF07648 Kazal_2 # Proteomes UP000005640 Chromosome 12 # Reactome R-HSA-159418 Recycling of bile acids and salts # Reactome R-HSA-879518 Transport of organic anions # RecName SO1B1_HUMAN Solute carrier organic anion transporter family member 1B1 # RefSeq NP_006437 NM_006446.4 # SIMILARITY Belongs to the organo anion transporter (TC 2.A.60) family. {ECO 0000305}. # SIMILARITY Contains 1 Kazal-like domain. {ECO:0000255|PROSITE- ProRule PRU00798}. # SUBCELLULAR LOCATION SO1B1_HUMAN Basolateral cell membrane {ECO 0000269|PubMed 12196548}; Multi-pass membrane protein {ECO 0000269|PubMed 12196548}. Note=Detected in basolateral membranes of hepatocytes. # SUPFAM SSF103473 SSF103473; 3 # TCDB 2.A.60.1 the organo anion transporter (oat) family # TIGRFAMs TIGR00805 oat # TISSUE SPECIFICITY SO1B1_HUMAN Highly expressed in liver, at the basolateral membranes of centrilobular hepatocytes. Not detected in heart, brain, placenta, lung, skeletal muscle, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon and leukocyte. {ECO 0000269|PubMed 10358072, ECO 0000269|PubMed 10601278, ECO 0000269|PubMed 22232210}. # UCSC uc001req human # WEB RESOURCE SO1B1_HUMAN Name=SeattleSNPs; URL="http //pga.gs.washington.edu/data/slco1b1/"; # eggNOG ENOG410XRSF LUCA # eggNOG KOG3626 Eukaryota BLAST swissprot:SO1B1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SO1B1_HUMAN BioCyc ZFISH:ENSG00000134538-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000134538-MONOMER COXPRESdb 10599 http://coxpresdb.jp/data/gene/10599.shtml CleanEx HS_LST1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_LST1 CleanEx HS_SLCO1B1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLCO1B1 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.274.24.17159 http://dx.doi.org/10.1074/jbc.274.24.17159 DOI 10.1074/jbc.274.52.37161 http://dx.doi.org/10.1074/jbc.274.52.37161 DOI 10.1074/jbc.M001448200 http://dx.doi.org/10.1074/jbc.M001448200 DOI 10.1074/jbc.M103792200 http://dx.doi.org/10.1074/jbc.M103792200 DOI 10.1074/jbc.M207735200 http://dx.doi.org/10.1074/jbc.M207735200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1124/jpet.302.2.804 http://dx.doi.org/10.1124/jpet.302.2.804 DOI 10.1172/JCI59526 http://dx.doi.org/10.1172/JCI59526 DOI 10.1371/journal.pone.0052563 http://dx.doi.org/10.1371/journal.pone.0052563 DrugBank DB00091 http://www.drugbank.ca/drugs/DB00091 DrugBank DB00175 http://www.drugbank.ca/drugs/DB00175 DrugBank DB00177 http://www.drugbank.ca/drugs/DB00177 DrugBank DB00213 http://www.drugbank.ca/drugs/DB00213 DrugBank DB00220 http://www.drugbank.ca/drugs/DB00220 DrugBank DB00224 http://www.drugbank.ca/drugs/DB00224 DrugBank DB00227 http://www.drugbank.ca/drugs/DB00227 DrugBank DB00275 http://www.drugbank.ca/drugs/DB00275 DrugBank DB00279 http://www.drugbank.ca/drugs/DB00279 DrugBank DB00286 http://www.drugbank.ca/drugs/DB00286 DrugBank DB00345 http://www.drugbank.ca/drugs/DB00345 DrugBank DB00390 http://www.drugbank.ca/drugs/DB00390 DrugBank DB00412 http://www.drugbank.ca/drugs/DB00412 DrugBank DB00451 http://www.drugbank.ca/drugs/DB00451 DrugBank DB00503 http://www.drugbank.ca/drugs/DB00503 DrugBank DB00509 http://www.drugbank.ca/drugs/DB00509 DrugBank DB00520 http://www.drugbank.ca/drugs/DB00520 DrugBank DB00563 http://www.drugbank.ca/drugs/DB00563 DrugBank DB00583 http://www.drugbank.ca/drugs/DB00583 DrugBank DB00641 http://www.drugbank.ca/drugs/DB00641 DrugBank DB00655 http://www.drugbank.ca/drugs/DB00655 DrugBank DB00661 http://www.drugbank.ca/drugs/DB00661 DrugBank DB00669 http://www.drugbank.ca/drugs/DB00669 DrugBank DB00688 http://www.drugbank.ca/drugs/DB00688 DrugBank DB00762 http://www.drugbank.ca/drugs/DB00762 DrugBank DB00783 http://www.drugbank.ca/drugs/DB00783 DrugBank DB00859 http://www.drugbank.ca/drugs/DB00859 DrugBank DB00877 http://www.drugbank.ca/drugs/DB00877 DrugBank DB00908 http://www.drugbank.ca/drugs/DB00908 DrugBank DB00912 http://www.drugbank.ca/drugs/DB00912 DrugBank DB00917 http://www.drugbank.ca/drugs/DB00917 DrugBank DB00950 http://www.drugbank.ca/drugs/DB00950 DrugBank DB00973 http://www.drugbank.ca/drugs/DB00973 DrugBank DB01045 http://www.drugbank.ca/drugs/DB01045 DrugBank DB01053 http://www.drugbank.ca/drugs/DB01053 DrugBank DB01076 http://www.drugbank.ca/drugs/DB01076 DrugBank DB01092 http://www.drugbank.ca/drugs/DB01092 DrugBank DB01095 http://www.drugbank.ca/drugs/DB01095 DrugBank DB01098 http://www.drugbank.ca/drugs/DB01098 DrugBank DB01132 http://www.drugbank.ca/drugs/DB01132 DrugBank DB01211 http://www.drugbank.ca/drugs/DB01211 DrugBank DB01232 http://www.drugbank.ca/drugs/DB01232 DrugBank DB01241 http://www.drugbank.ca/drugs/DB01241 DrugBank DB01393 http://www.drugbank.ca/drugs/DB01393 DrugBank DB01583 http://www.drugbank.ca/drugs/DB01583 DrugBank DB02659 http://www.drugbank.ca/drugs/DB02659 DrugBank DB05239 http://www.drugbank.ca/drugs/DB05239 DrugBank DB06151 http://www.drugbank.ca/drugs/DB06151 DrugBank DB06210 http://www.drugbank.ca/drugs/DB06210 DrugBank DB06290 http://www.drugbank.ca/drugs/DB06290 DrugBank DB06403 http://www.drugbank.ca/drugs/DB06403 DrugBank DB06589 http://www.drugbank.ca/drugs/DB06589 DrugBank DB06626 http://www.drugbank.ca/drugs/DB06626 DrugBank DB06772 http://www.drugbank.ca/drugs/DB06772 DrugBank DB08860 http://www.drugbank.ca/drugs/DB08860 DrugBank DB08864 http://www.drugbank.ca/drugs/DB08864 DrugBank DB08884 http://www.drugbank.ca/drugs/DB08884 DrugBank DB08912 http://www.drugbank.ca/drugs/DB08912 DrugBank DB09054 http://www.drugbank.ca/drugs/DB09054 DrugBank DB09102 http://www.drugbank.ca/drugs/DB09102 DrugBank DB09272 http://www.drugbank.ca/drugs/DB09272 DrugBank DB09292 http://www.drugbank.ca/drugs/DB09292 DrugBank DB11362 http://www.drugbank.ca/drugs/DB11362 EMBL AB026257 http://www.ebi.ac.uk/ena/data/view/AB026257 EMBL AF060500 http://www.ebi.ac.uk/ena/data/view/AF060500 EMBL AF205071 http://www.ebi.ac.uk/ena/data/view/AF205071 EMBL AJ132573 http://www.ebi.ac.uk/ena/data/view/AJ132573 EMBL AJ400749 http://www.ebi.ac.uk/ena/data/view/AJ400749 EMBL AJ400750 http://www.ebi.ac.uk/ena/data/view/AJ400750 EMBL AJ400751 http://www.ebi.ac.uk/ena/data/view/AJ400751 EMBL AJ400752 http://www.ebi.ac.uk/ena/data/view/AJ400752 EMBL AJ400753 http://www.ebi.ac.uk/ena/data/view/AJ400753 EMBL AJ400754 http://www.ebi.ac.uk/ena/data/view/AJ400754 EMBL AJ400755 http://www.ebi.ac.uk/ena/data/view/AJ400755 EMBL AJ400756 http://www.ebi.ac.uk/ena/data/view/AJ400756 EMBL AJ400757 http://www.ebi.ac.uk/ena/data/view/AJ400757 EMBL AJ400758 http://www.ebi.ac.uk/ena/data/view/AJ400758 EMBL AJ400759 http://www.ebi.ac.uk/ena/data/view/AJ400759 EMBL AJ400760 http://www.ebi.ac.uk/ena/data/view/AJ400760 EMBL AJ400761 http://www.ebi.ac.uk/ena/data/view/AJ400761 EMBL AJ400762 http://www.ebi.ac.uk/ena/data/view/AJ400762 EMBL AK312970 http://www.ebi.ac.uk/ena/data/view/AK312970 EMBL AY945934 http://www.ebi.ac.uk/ena/data/view/AY945934 EMBL BC114376 http://www.ebi.ac.uk/ena/data/view/BC114376 EMBL CH471094 http://www.ebi.ac.uk/ena/data/view/CH471094 Ensembl ENST00000256958 http://www.ensembl.org/id/ENST00000256958 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016323 GO_function GO:0015125 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015125 GO_function GO:0015347 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015347 GO_function GO:0015349 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015349 GO_process GO:0008206 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008206 GO_process GO:0015711 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015711 GO_process GO:0015721 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015721 GO_process GO:0043252 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043252 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006629 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006629 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GeneCards SLCO1B1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLCO1B1 GeneID 10599 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=10599 GeneTree ENSGT00760000119014 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119014 HGNC HGNC:10959 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10959 HOGENOM HOG000231269 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231269&db=HOGENOM6 HOVERGEN HBG063896 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG063896&db=HOVERGEN HPA HPA050892 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA050892 InParanoid Q9Y6L6 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9Y6L6 InterPro IPR002350 http://www.ebi.ac.uk/interpro/entry/IPR002350 InterPro IPR004156 http://www.ebi.ac.uk/interpro/entry/IPR004156 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 10599 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=10599 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:10599 http://www.genome.jp/dbget-bin/www_bget?hsa:10599 KEGG_Orthology KO:K05043 http://www.genome.jp/dbget-bin/www_bget?KO:K05043 KEGG_Pathway ko04976 http://www.genome.jp/kegg-bin/show_pathway?ko04976 MIM 237450 http://www.ncbi.nlm.nih.gov/omim/237450 MIM 604843 http://www.ncbi.nlm.nih.gov/omim/604843 OMA IIHIERR http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=IIHIERR Orphanet 3111 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=3111 Orphanet 413696 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=413696 OrthoDB EOG091G08QD http://cegg.unige.ch/orthodb/results?searchtext=EOG091G08QD PANTHER PTHR11388 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11388 PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PROSITE PS51465 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51465 PSORT swissprot:SO1B1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SO1B1_HUMAN PSORT-B swissprot:SO1B1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SO1B1_HUMAN PSORT2 swissprot:SO1B1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SO1B1_HUMAN Pfam PF03137 http://pfam.xfam.org/family/PF03137 Pfam PF07648 http://pfam.xfam.org/family/PF07648 PharmGKB PA134865839 http://www.pharmgkb.org/do/serve?objId=PA134865839&objCls=Gene Phobius swissprot:SO1B1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SO1B1_HUMAN PhylomeDB Q9Y6L6 http://phylomedb.org/?seqid=Q9Y6L6 ProteinModelPortal Q9Y6L6 http://www.proteinmodelportal.org/query/uniprot/Q9Y6L6 PubMed 10358072 http://www.ncbi.nlm.nih.gov/pubmed/10358072 PubMed 10601278 http://www.ncbi.nlm.nih.gov/pubmed/10601278 PubMed 10644574 http://www.ncbi.nlm.nih.gov/pubmed/10644574 PubMed 10779507 http://www.ncbi.nlm.nih.gov/pubmed/10779507 PubMed 11477075 http://www.ncbi.nlm.nih.gov/pubmed/11477075 PubMed 12130747 http://www.ncbi.nlm.nih.gov/pubmed/12130747 PubMed 12196548 http://www.ncbi.nlm.nih.gov/pubmed/12196548 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 22232210 http://www.ncbi.nlm.nih.gov/pubmed/22232210 PubMed 23285087 http://www.ncbi.nlm.nih.gov/pubmed/23285087 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 Reactome R-HSA-159418 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-159418 Reactome R-HSA-879518 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-879518 RefSeq NP_006437 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_006437 STRING 9606.ENSP00000256958 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000256958&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.60.1 http://www.tcdb.org/search/result.php?tc=2.A.60.1 TIGRFAMs TIGR00805 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00805 UCSC uc001req http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001req&org=rat UniGene Hs.449738 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.449738 UniProtKB SO1B1_HUMAN http://www.uniprot.org/uniprot/SO1B1_HUMAN UniProtKB-AC Q9Y6L6 http://www.uniprot.org/uniprot/Q9Y6L6 charge swissprot:SO1B1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SO1B1_HUMAN eggNOG ENOG410XRSF http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XRSF eggNOG KOG3626 http://eggnogapi.embl.de/nog_data/html/tree/KOG3626 epestfind swissprot:SO1B1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SO1B1_HUMAN garnier swissprot:SO1B1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SO1B1_HUMAN helixturnhelix swissprot:SO1B1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SO1B1_HUMAN hmoment swissprot:SO1B1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SO1B1_HUMAN iep swissprot:SO1B1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SO1B1_HUMAN inforesidue swissprot:SO1B1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SO1B1_HUMAN neXtProt NX_Q9Y6L6 http://www.nextprot.org/db/entry/NX_Q9Y6L6 octanol swissprot:SO1B1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SO1B1_HUMAN pepcoil swissprot:SO1B1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SO1B1_HUMAN pepdigest swissprot:SO1B1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SO1B1_HUMAN pepinfo swissprot:SO1B1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SO1B1_HUMAN pepnet swissprot:SO1B1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SO1B1_HUMAN pepstats swissprot:SO1B1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SO1B1_HUMAN pepwheel swissprot:SO1B1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SO1B1_HUMAN pepwindow swissprot:SO1B1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SO1B1_HUMAN sigcleave swissprot:SO1B1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SO1B1_HUMAN ## Database ID URL or Descriptions # AltName CY24B_HUMAN CGD91-phox # AltName CY24B_HUMAN Cytochrome b(558) subunit beta # AltName CY24B_HUMAN Heme-binding membrane glycoprotein gp91phox # AltName CY24B_HUMAN NADPH oxidase 2 # AltName CY24B_HUMAN Neutrophil cytochrome b 91 kDa polypeptide # AltName CY24B_HUMAN Superoxide-generating NADPH oxidase heavy chain subunit # AltName CY24B_HUMAN gp91-1 # AltName CY24B_HUMAN gp91-phox # AltName CY24B_HUMAN p22 phagocyte B-cytochrome # BioGrid 107916 3 # COFACTOR Name=FAD; Xref=ChEBI:CHEBI 57692; Evidence={ECO:0000305}; # ChiTaRS CYBB human # DISEASE CY24B_HUMAN Granulomatous disease, chronic, X-linked (CGD) [MIM 306400] A disorder characterized by the inability of neutrophils and phagocytes to kill microbes that they have ingested. Patients suffer from life-threatening bacterial/fungal infections. {ECO 0000269|PubMed 10089913, ECO 0000269|PubMed 10914676, ECO 0000269|PubMed 11462241, ECO 0000269|PubMed 11997083, ECO 0000269|PubMed 12139950, ECO 0000269|PubMed 1710153, ECO 0000269|PubMed 18773283, ECO 0000269|PubMed 22125116, ECO 0000269|PubMed 23910690, ECO 0000269|PubMed 2556453, ECO 0000269|PubMed 7927345, ECO 0000269|PubMed 8101486, ECO 0000269|PubMed 8182143, ECO 0000269|PubMed 8916969, ECO 0000269|PubMed 9111587, ECO 0000269|PubMed 9585602, ECO 0000269|PubMed 9667376, ECO 0000269|PubMed 9794433, ECO 0000269|PubMed 9856476, ECO 0000269|PubMed 9888386}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE CY24B_HUMAN Immunodeficiency 34 (IMD34) [MIM 300645] A form of Mendelian susceptibility to mycobacterial disease, a rare condition characterized by predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine, environmental non-tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. Other microorganisms rarely cause severe clinical disease in individuals with susceptibility to mycobacterial infections, with the exception of Salmonella which infects less than 50% of these individuals. {ECO 0000269|PubMed 21278736}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. # DrugBank DB00514 Dextromethorphan # Ensembl ENST00000378588 ENSP00000367851; ENSG00000165168 # ExpressionAtlas P04839 baseline and differential # FUNCTION CY24B_HUMAN Critical component of the membrane-bound oxidase of phagocytes that generates superoxide. It is the terminal component of a respiratory chain that transfers single electrons from cytoplasmic NADPH across the plasma membrane to molecular oxygen on the exterior. Also functions as a voltage-gated proton channel that mediates the H(+) currents of resting phagocytes. It participates in the regulation of cellular pH and is blocked by zinc. # GO_component GO:0005635 nuclear envelope; IEA:Ensembl. # GO_component GO:0005739 mitochondrion; IEA:Ensembl. # GO_component GO:0005789 endoplasmic reticulum membrane; TAS:Reactome. # GO_component GO:0005791 rough endoplasmic reticulum; IEA:Ensembl. # GO_component GO:0005794 Golgi apparatus; IEA:Ensembl. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IDA:UniProtKB. # GO_component GO:0030425 dendrite; IEA:Ensembl. # GO_component GO:0030670 phagocytic vesicle membrane; TAS:Reactome. # GO_component GO:0043020 NADPH oxidase complex; IDA:BHF-UCL. # GO_component GO:0043025 neuronal cell body; IEA:Ensembl. # GO_component GO:0048471 perinuclear region of cytoplasm; IEA:Ensembl. # GO_function GO:0005244 voltage-gated ion channel activity; IEA:UniProtKB-KW. # GO_function GO:0016175 superoxide-generating NADPH oxidase activity; TAS:BHF-UCL. # GO_function GO:0020037 heme binding; IMP:BHF-UCL. # GO_function GO:0046872 metal ion binding; IEA:UniProtKB-KW. # GO_function GO:0046982 protein heterodimerization activity; IPI:BHF-UCL. # GO_function GO:0050660 flavin adenine dinucleotide binding; IMP:BHF-UCL. # GO_process GO:0000302 response to reactive oxygen species; TAS:Reactome. # GO_process GO:0002479 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent; TAS:Reactome. # GO_process GO:0006801 superoxide metabolic process; IDA:BHF-UCL. # GO_process GO:0006954 inflammatory response; ISS:UniProtKB. # GO_process GO:0007584 response to nutrient; IEA:Ensembl. # GO_process GO:0042493 response to drug; IEA:Ensembl. # GO_process GO:0042535 positive regulation of tumor necrosis factor biosynthetic process; IEA:Ensembl. # GO_process GO:0042554 superoxide anion generation; IDA:BHF-UCL. # GO_process GO:0045087 innate immune response; IMP:BHF-UCL. # GO_process GO:0045454 cell redox homeostasis; TAS:Reactome. # GO_process GO:0045730 respiratory burst; IMP:BHF-UCL. # GO_process GO:0045766 positive regulation of angiogenesis; IEA:Ensembl. # GO_process GO:0048010 vascular endothelial growth factor receptor signaling pathway; TAS:Reactome. # GO_process GO:0050665 hydrogen peroxide biosynthetic process; IEA:Ensembl. # GO_process GO:0055114 oxidation-reduction process; IDA:BHF-UCL. # GO_process GO:0071276 cellular response to cadmium ion; IEA:Ensembl. # GO_process GO:0071361 cellular response to ethanol; IEA:Ensembl. # GO_process GO:0097411 hypoxia-inducible factor-1alpha signaling pathway; IEA:Ensembl. # GO_process GO:1904044 response to aldosterone; IEA:Ensembl. # GO_process GO:1904845 cellular response to L-glutamine; IEA:Ensembl. # GO_process GO:1990776 response to angiotensin; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005635 nuclear envelope # GOslim_component GO:0005739 mitochondrion # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_component GO:0005794 Golgi apparatus # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0016491 oxidoreductase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0002376 immune system process # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0042592 homeostatic process # Genevisible P04839 HS # HGNC HGNC:2578 CYBB # InterPro IPR000778 Cyt_b245_heavy_chain # InterPro IPR013112 FAD-bd_8 # InterPro IPR013121 Fe_red_NAD-bd_6 # InterPro IPR013130 Fe3_Rdtase_TM_dom # InterPro IPR017927 Fd_Rdtase_FAD-bd # InterPro IPR017938 Riboflavin_synthase-like_b-brl # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Disease H00098 [Primary immunodeficiency] p67phox deficiency (p67phox CGD) # KEGG_Disease H01167 [Infectious disease] Gluconobacter infection # KEGG_Pathway ko04066 HIF-1 signaling pathway # KEGG_Pathway ko04145 Phagosome # KEGG_Pathway ko04380 Osteoclast differentiation # KEGG_Pathway ko04670 Leukocyte transendothelial migration # MIM 300481 gene # MIM 300645 phenotype # MIM 306400 phenotype # Organism CY24B_HUMAN Homo sapiens (Human) # Orphanet 319623 X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency # Orphanet 379 Chronic granulomatous disease # PDB 3A1F X-ray; 2.00 A; A=385-570 # PIR S70773 S70773 # PRINTS PR00466 GP91PHOX # PROSITE PS51384 FAD_FR # PTM CY24B_HUMAN Glycosylated. {ECO 0000269|PubMed 19159218}. # PTM CY24B_HUMAN Phosphorylated on Ser and Thr residues. {ECO 0000269|PubMed 19028840}. # PeroxiBase 5962 HsNOx02 # Pfam PF01794 Ferric_reduct # Pfam PF08022 FAD_binding_8 # Pfam PF08030 NAD_binding_6 # Proteomes UP000005640 Chromosome X # Reactome R-HSA-1222556 ROS, RNS production in response to bacteria # Reactome R-HSA-1236973 Cross-presentation of particulate exogenous antigens (phagosomes) # Reactome R-HSA-3299685 Detoxification of Reactive Oxygen Species # Reactome R-HSA-4420097 VEGFA-VEGFR2 Pathway # Reactome R-HSA-5668599 RHO GTPases Activate NADPH Oxidases # Reactome R-HSA-6798695 Neutrophil degranulation # RecName CY24B_HUMAN Cytochrome b-245 heavy chain # RefSeq NP_000388 NM_000397.3 # SEQUENCE CAUTION Sequence=CAA27635.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAA29327.1; Type=Erroneous gene model prediction; Evidence={ECO 0000305}; # SIMILARITY Contains 1 FAD-binding FR-type domain. {ECO:0000255|PROSITE-ProRule PRU00716}. # SIMILARITY Contains 1 ferric oxidoreductase domain. {ECO 0000305}. # SUBCELLULAR LOCATION CY24B_HUMAN Cell membrane; Multi-pass membrane protein. # SUBUNIT CY24B_HUMAN Composed of a heavy chain (beta) and a light chain (alpha). Component of an NADPH oxidase complex composed of a heterodimer formed by the membrane proteins CYBA and CYBB and the cytosolic subunits NCF1, NCF2 and NCF4. Interacts with NCF1. Interacts with calprotectin (S100A8/9). Interacts with NRROS; the interaction is direct and impairs formation of a stable NADPH oxidase complex. {ECO 0000269|PubMed 19028840, ECO 0000269|PubMed 3600769, ECO 0000269|PubMed 9224653}. # SUPFAM SSF63380 SSF63380 # TCDB 5.B.1.1 the phagocyte (gp91(phox)) nadph oxidase family # TISSUE SPECIFICITY Detected in neutrophils (at protein level). {ECO:0000269|PubMed 19028840}. # UCSC uc004ddr human # WEB RESOURCE CY24B_HUMAN Name=CYBBbase; Note=CYBB deficiency database; URL="http //structure.bmc.lu.se/idbase/CYBBbase/"; # WEB RESOURCE CY24B_HUMAN Name=Mendelian genes cytochrome b-245, beta polypeptide (CYBB); Note=Leiden Open Variation Database (LOVD); URL="http //www.lovd.nl/CYBB"; # eggNOG ENOG410XNZY LUCA # eggNOG KOG0039 Eukaryota BLAST swissprot:CY24B_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CY24B_HUMAN BioCyc ZFISH:HS09192-MONOMER http://biocyc.org/getid?id=ZFISH:HS09192-MONOMER COXPRESdb 1536 http://coxpresdb.jp/data/gene/1536.shtml CleanEx HS_CYBB http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CYBB DIP DIP-42005N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-42005N DOI 10.1002/(SICI)1098-1004(1999)13:1<29::AID-HUMU3>3.0.CO http://dx.doi.org/10.1002/(SICI)1098-1004(1999)13:1<29::AID-HUMU3>3.0.CO DOI 10.1002/humu.1166 http://dx.doi.org/10.1002/humu.1166 DOI 10.1002/humu.22003 http://dx.doi.org/10.1002/humu.22003 DOI 10.1006/clim.2002.5230 http://dx.doi.org/10.1006/clim.2002.5230 DOI 10.1006/geno.1998.5510 http://dx.doi.org/10.1006/geno.1998.5510 DOI 10.1007/BF00201609 http://dx.doi.org/10.1007/BF00201609 DOI 10.1007/BF01955051 http://dx.doi.org/10.1007/BF01955051 DOI 10.1007/s00439-004-1173-z http://dx.doi.org/10.1007/s00439-004-1173-z DOI 10.1007/s004390000288 http://dx.doi.org/10.1007/s004390000288 DOI 10.1007/s004390050836 http://dx.doi.org/10.1007/s004390050836 DOI 10.1007/s10875-008-9243-y http://dx.doi.org/10.1007/s10875-008-9243-y DOI 10.1016/S0301-472X(98)00024-1 http://dx.doi.org/10.1016/S0301-472X(98)00024-1 DOI 10.1016/S0925-4439(01)00110-7 http://dx.doi.org/10.1016/S0925-4439(01)00110-7 DOI 10.1016/j.jaci.2013.05.039 http://dx.doi.org/10.1016/j.jaci.2013.05.039 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/pr8008012 http://dx.doi.org/10.1021/pr8008012 DOI 10.1038/322032a0 http://dx.doi.org/10.1038/322032a0 DOI 10.1038/327717a0 http://dx.doi.org/10.1038/327717a0 DOI 10.1038/327720a0 http://dx.doi.org/10.1038/327720a0 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1038/ni.1992 http://dx.doi.org/10.1038/ni.1992 DOI 10.1042/bj3250249 http://dx.doi.org/10.1042/bj3250249 DOI 10.1085/jgp.114.6.771 http://dx.doi.org/10.1085/jgp.114.6.771 DOI 10.1086/301874 http://dx.doi.org/10.1086/301874 DOI 10.1096/fj.08-114553 http://dx.doi.org/10.1096/fj.08-114553 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1172/JCI114393 http://dx.doi.org/10.1172/JCI114393 DOI 10.1172/JCI117207 http://dx.doi.org/10.1172/JCI117207 DOI 10.1203/00006450-199807000-00014 http://dx.doi.org/10.1203/00006450-199807000-00014 DrugBank DB00514 http://www.drugbank.ca/drugs/DB00514 EC_number EC:1.-.-.- http://www.genome.jp/dbget-bin/www_bget?EC:1.-.-.- EMBL AB013904 http://www.ebi.ac.uk/ena/data/view/AB013904 EMBL AF469757 http://www.ebi.ac.uk/ena/data/view/AF469757 EMBL AF469758 http://www.ebi.ac.uk/ena/data/view/AF469758 EMBL AF469759 http://www.ebi.ac.uk/ena/data/view/AF469759 EMBL AF469760 http://www.ebi.ac.uk/ena/data/view/AF469760 EMBL AF469761 http://www.ebi.ac.uk/ena/data/view/AF469761 EMBL AF469762 http://www.ebi.ac.uk/ena/data/view/AF469762 EMBL AF469763 http://www.ebi.ac.uk/ena/data/view/AF469763 EMBL AF469764 http://www.ebi.ac.uk/ena/data/view/AF469764 EMBL AF469765 http://www.ebi.ac.uk/ena/data/view/AF469765 EMBL AF469766 http://www.ebi.ac.uk/ena/data/view/AF469766 EMBL AF469767 http://www.ebi.ac.uk/ena/data/view/AF469767 EMBL AF469768 http://www.ebi.ac.uk/ena/data/view/AF469768 EMBL AF469769 http://www.ebi.ac.uk/ena/data/view/AF469769 EMBL AK289753 http://www.ebi.ac.uk/ena/data/view/AK289753 EMBL BC032720 http://www.ebi.ac.uk/ena/data/view/BC032720 EMBL CH471141 http://www.ebi.ac.uk/ena/data/view/CH471141 EMBL DQ314869 http://www.ebi.ac.uk/ena/data/view/DQ314869 EMBL X04011 http://www.ebi.ac.uk/ena/data/view/X04011 EMBL X05895 http://www.ebi.ac.uk/ena/data/view/X05895 ENZYME 1.-.-.- http://enzyme.expasy.org/EC/1.-.-.- Ensembl ENST00000378588 http://www.ensembl.org/id/ENST00000378588 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005635 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005635 GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005789 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005789 GO_component GO:0005791 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005791 GO_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0030425 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030425 GO_component GO:0030670 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030670 GO_component GO:0043020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043020 GO_component GO:0043025 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043025 GO_component GO:0048471 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048471 GO_function GO:0005244 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005244 GO_function GO:0016175 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016175 GO_function GO:0020037 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0020037 GO_function GO:0046872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046872 GO_function GO:0046982 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046982 GO_function GO:0050660 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050660 GO_process GO:0000302 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000302 GO_process GO:0002479 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002479 GO_process GO:0006801 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006801 GO_process GO:0006954 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006954 GO_process GO:0007584 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007584 GO_process GO:0042493 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042493 GO_process GO:0042535 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042535 GO_process GO:0042554 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042554 GO_process GO:0045087 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045087 GO_process GO:0045454 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045454 GO_process GO:0045730 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045730 GO_process GO:0045766 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045766 GO_process GO:0048010 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048010 GO_process GO:0050665 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050665 GO_process GO:0055114 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055114 GO_process GO:0071276 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071276 GO_process GO:0071361 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071361 GO_process GO:0097411 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097411 GO_process GO:1904044 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1904044 GO_process GO:1904845 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1904845 GO_process GO:1990776 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1990776 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005635 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005635 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0016491 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016491 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0002376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002376 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GeneCards CYBB http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CYBB GeneID 1536 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=1536 GeneTree ENSGT00550000074350 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074350 HGNC HGNC:2578 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:2578 HOGENOM HOG000216669 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000216669&db=HOGENOM6 HOVERGEN HBG003760 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG003760&db=HOVERGEN HPA HPA051227 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA051227 InParanoid P04839 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P04839 IntAct P04839 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P04839* IntEnz 1 http://www.ebi.ac.uk/intenz/query?cmd=Search&q=1 InterPro IPR000778 http://www.ebi.ac.uk/interpro/entry/IPR000778 InterPro IPR013112 http://www.ebi.ac.uk/interpro/entry/IPR013112 InterPro IPR013121 http://www.ebi.ac.uk/interpro/entry/IPR013121 InterPro IPR013130 http://www.ebi.ac.uk/interpro/entry/IPR013130 InterPro IPR017927 http://www.ebi.ac.uk/interpro/entry/IPR017927 InterPro IPR017938 http://www.ebi.ac.uk/interpro/entry/IPR017938 Jabion 1536 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=1536 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Disease H00098 http://www.genome.jp/dbget-bin/www_bget?H00098 KEGG_Disease H01167 http://www.genome.jp/dbget-bin/www_bget?H01167 KEGG_Gene hsa:1536 http://www.genome.jp/dbget-bin/www_bget?hsa:1536 KEGG_Orthology KO:K08008 http://www.genome.jp/dbget-bin/www_bget?KO:K08008 KEGG_Pathway ko04066 http://www.genome.jp/kegg-bin/show_pathway?ko04066 KEGG_Pathway ko04145 http://www.genome.jp/kegg-bin/show_pathway?ko04145 KEGG_Pathway ko04380 http://www.genome.jp/kegg-bin/show_pathway?ko04380 KEGG_Pathway ko04670 http://www.genome.jp/kegg-bin/show_pathway?ko04670 MIM 300481 http://www.ncbi.nlm.nih.gov/omim/300481 MIM 300645 http://www.ncbi.nlm.nih.gov/omim/300645 MIM 306400 http://www.ncbi.nlm.nih.gov/omim/306400 MINT MINT-191276 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-191276 OMA VKFFYTR http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=VKFFYTR Orphanet 319623 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=319623 Orphanet 379 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=379 OrthoDB EOG091G09RV http://cegg.unige.ch/orthodb/results?searchtext=EOG091G09RV PDB 3A1F http://www.ebi.ac.uk/pdbe-srv/view/entry/3A1F PDBsum 3A1F http://www.ebi.ac.uk/pdbsum/3A1F PRINTS PR00466 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00466 PROSITE PS51384 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51384 PSORT swissprot:CY24B_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CY24B_HUMAN PSORT-B swissprot:CY24B_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CY24B_HUMAN PSORT2 swissprot:CY24B_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CY24B_HUMAN PeroxiBase 5962 http://peroxibase.toulouse.inra.fr/listing.php?action=view&id=5962 Pfam PF01794 http://pfam.xfam.org/family/PF01794 Pfam PF08022 http://pfam.xfam.org/family/PF08022 Pfam PF08030 http://pfam.xfam.org/family/PF08030 PharmGKB PA27076 http://www.pharmgkb.org/do/serve?objId=PA27076&objCls=Gene Phobius swissprot:CY24B_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CY24B_HUMAN PhylomeDB P04839 http://phylomedb.org/?seqid=P04839 ProteinModelPortal P04839 http://www.proteinmodelportal.org/query/uniprot/P04839 PubMed 10089913 http://www.ncbi.nlm.nih.gov/pubmed/10089913 PubMed 10578014 http://www.ncbi.nlm.nih.gov/pubmed/10578014 PubMed 10914676 http://www.ncbi.nlm.nih.gov/pubmed/10914676 PubMed 11462241 http://www.ncbi.nlm.nih.gov/pubmed/11462241 PubMed 11997083 http://www.ncbi.nlm.nih.gov/pubmed/11997083 PubMed 12139950 http://www.ncbi.nlm.nih.gov/pubmed/12139950 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15338276 http://www.ncbi.nlm.nih.gov/pubmed/15338276 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 1710153 http://www.ncbi.nlm.nih.gov/pubmed/1710153 PubMed 18773283 http://www.ncbi.nlm.nih.gov/pubmed/18773283 PubMed 19028840 http://www.ncbi.nlm.nih.gov/pubmed/19028840 PubMed 19159218 http://www.ncbi.nlm.nih.gov/pubmed/19159218 PubMed 21278736 http://www.ncbi.nlm.nih.gov/pubmed/21278736 PubMed 22125116 http://www.ncbi.nlm.nih.gov/pubmed/22125116 PubMed 23910690 http://www.ncbi.nlm.nih.gov/pubmed/23910690 PubMed 2425263 http://www.ncbi.nlm.nih.gov/pubmed/2425263 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 2556453 http://www.ncbi.nlm.nih.gov/pubmed/2556453 PubMed 3600768 http://www.ncbi.nlm.nih.gov/pubmed/3600768 PubMed 3600769 http://www.ncbi.nlm.nih.gov/pubmed/3600769 PubMed 7927345 http://www.ncbi.nlm.nih.gov/pubmed/7927345 PubMed 8101486 http://www.ncbi.nlm.nih.gov/pubmed/8101486 PubMed 8182143 http://www.ncbi.nlm.nih.gov/pubmed/8182143 PubMed 8916969 http://www.ncbi.nlm.nih.gov/pubmed/8916969 PubMed 9111587 http://www.ncbi.nlm.nih.gov/pubmed/9111587 PubMed 9224653 http://www.ncbi.nlm.nih.gov/pubmed/9224653 PubMed 9585602 http://www.ncbi.nlm.nih.gov/pubmed/9585602 PubMed 9667376 http://www.ncbi.nlm.nih.gov/pubmed/9667376 PubMed 9790760 http://www.ncbi.nlm.nih.gov/pubmed/9790760 PubMed 9794433 http://www.ncbi.nlm.nih.gov/pubmed/9794433 PubMed 9856476 http://www.ncbi.nlm.nih.gov/pubmed/9856476 PubMed 9888386 http://www.ncbi.nlm.nih.gov/pubmed/9888386 Reactome R-HSA-1222556 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1222556 Reactome R-HSA-1236973 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1236973 Reactome R-HSA-3299685 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-3299685 Reactome R-HSA-4420097 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-4420097 Reactome R-HSA-5668599 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5668599 Reactome R-HSA-6798695 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6798695 RefSeq NP_000388 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000388 SMR P04839 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P04839 STRING 9606.ENSP00000367851 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000367851&targetmode=cogs SUPFAM SSF63380 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF63380 TCDB 5.B.1.1 http://www.tcdb.org/search/result.php?tc=5.B.1.1 UCSC uc004ddr http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc004ddr&org=rat UniGene Hs.292356 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.292356 UniProtKB CY24B_HUMAN http://www.uniprot.org/uniprot/CY24B_HUMAN UniProtKB-AC P04839 http://www.uniprot.org/uniprot/P04839 charge swissprot:CY24B_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CY24B_HUMAN eggNOG ENOG410XNZY http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XNZY eggNOG KOG0039 http://eggnogapi.embl.de/nog_data/html/tree/KOG0039 epestfind swissprot:CY24B_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CY24B_HUMAN garnier swissprot:CY24B_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CY24B_HUMAN helixturnhelix swissprot:CY24B_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CY24B_HUMAN hmoment swissprot:CY24B_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CY24B_HUMAN iep swissprot:CY24B_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CY24B_HUMAN inforesidue swissprot:CY24B_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CY24B_HUMAN neXtProt NX_P04839 http://www.nextprot.org/db/entry/NX_P04839 octanol swissprot:CY24B_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CY24B_HUMAN pepcoil swissprot:CY24B_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CY24B_HUMAN pepdigest swissprot:CY24B_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CY24B_HUMAN pepinfo swissprot:CY24B_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CY24B_HUMAN pepnet swissprot:CY24B_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CY24B_HUMAN pepstats swissprot:CY24B_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CY24B_HUMAN pepwheel swissprot:CY24B_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CY24B_HUMAN pepwindow swissprot:CY24B_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CY24B_HUMAN sigcleave swissprot:CY24B_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CY24B_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS ABCC8_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q09428-1; Sequence=Displayed; Name=2; IsoId=Q09428-2; Sequence=VSP_000055; Name=3; Synonyms=SUR1Delta2; IsoId=Q09428-3; Sequence=VSP_044090; Note=Abundant isoform with prodiabetic properties, predominant in heart.; # AltName ABCC8_HUMAN Sulfonylurea receptor 1 # BioGrid 112700 2 # CCDS CCDS31437 -. [Q09428-1] # CCDS CCDS73264 -. [Q09428-2] # ChiTaRS ABCC8 human # DISEASE ABCC8_HUMAN Diabetes mellitus, permanent neonatal (PNDM) [MIM 606176] A rare form of diabetes distinct from childhood- onset autoimmune diabetes mellitus type 1. It is characterized by insulin-requiring hyperglycemia that is diagnosed within the first months of life. Permanent neonatal diabetes requires lifelong therapy. {ECO 0000269|PubMed 16613899, ECO 0000269|PubMed 16885549, ECO 0000269|PubMed 17213273, ECO 0000269|PubMed 17668386}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE ABCC8_HUMAN Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM 256450] Most common cause of persistent hypoglycemia in infancy. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur. {ECO 0000269|PubMed 10202168, ECO 0000269|PubMed 10334322, ECO 0000269|PubMed 12364426, ECO 0000269|PubMed 12941782, ECO 0000269|PubMed 15562009, ECO 0000269|PubMed 15579781, ECO 0000269|PubMed 15807877, ECO 0000269|PubMed 16357843, ECO 0000269|PubMed 16429405, ECO 0000269|PubMed 24814349, ECO 0000269|PubMed 25720052, ECO 0000269|PubMed 8751851, ECO 0000269|PubMed 8923011, ECO 0000269|PubMed 9618169, ECO 0000269|PubMed 9769320}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE ABCC8_HUMAN Leucine-induced hypoglycemia (LIH) [MIM 240800] Rare cause of hypoglycemia and is described as a condition in which symptomatic hypoglycemia is provoked by high protein feedings. Hypoglycemia is also elicited by administration of oral or intravenous infusions of a single amino acid, leucine. {ECO 0000269|PubMed 15356046}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE ABCC8_HUMAN Transient neonatal diabetes mellitus 2 (TNDM2) [MIM 610374] Neonatal diabetes is a form of diabetes mellitus defined by the onset of mild-to-severe hyperglycemia within the first months of life. Transient neonatal diabetes remits early, with a possible relapse during adolescence. {ECO 0000269|PubMed 16885549}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DrugBank DB00171 Adenosine triphosphate # DrugBank DB00222 Glimepiride # DrugBank DB00672 Chlorpropamide # DrugBank DB00731 Nateglinide # DrugBank DB00912 Repaglinide # DrugBank DB01016 Glyburide # DrugBank DB01067 Glipizide # DrugBank DB01120 Gliclazide # DrugBank DB01124 Tolbutamide # DrugBank DB01251 Gliquidone # DrugBank DB01252 Mitiglinide # DrugBank DB01382 Glycodiazine # Ensembl ENST00000302539 ENSP00000303960; ENSG00000006071. [Q09428-2] # Ensembl ENST00000389817 ENSP00000374467; ENSG00000006071. [Q09428-1] # Ensembl ENST00000612903 ENSP00000483031; ENSG00000006071. [Q09428-3] # ExpressionAtlas Q09428 baseline and differential # FUNCTION ABCC8_HUMAN Subunit of the beta-cell ATP-sensitive potassium channel (KATP). Regulator of ATP-sensitive K(+) channels and insulin release. {ECO 0000269|PubMed 24814349, ECO 0000269|PubMed 25720052}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0008076 voltage-gated potassium channel complex; IDA:BHF-UCL. # GO_component GO:0030672 synaptic vesicle membrane; IEA:Ensembl. # GO_component GO:0042383 sarcolemma; IEA:Ensembl. # GO_function GO:0005267 potassium channel activity; IMP:UniProtKB. # GO_function GO:0005524 ATP binding; IEA:UniProtKB-KW. # GO_function GO:0008281 sulfonylurea receptor activity; IEA:InterPro. # GO_function GO:0015272 ATP-activated inward rectifier potassium channel activity; TAS:Reactome. # GO_function GO:0043225 ATPase-coupled anion transmembrane transporter activity; TAS:Reactome. # GO_function GO:0044325 ion channel binding; IPI:BHF-UCL. # GO_process GO:0006813 potassium ion transport; TAS:ProtInc. # GO_process GO:0009268 response to pH; IEA:Ensembl. # GO_process GO:0010043 response to zinc ion; IEA:Ensembl. # GO_process GO:0032496 response to lipopolysaccharide; IEA:Ensembl. # GO_process GO:0032868 response to insulin; IEA:Ensembl. # GO_process GO:0042493 response to drug; IEA:Ensembl. # GO_process GO:0043268 positive regulation of potassium ion transport; IEA:Ensembl. # GO_process GO:0046676 negative regulation of insulin secretion; IEA:Ensembl. # GO_process GO:0050796 regulation of insulin secretion; TAS:Reactome. # GO_process GO:0055085 transmembrane transport; TAS:Reactome. # GO_process GO:0071310 cellular response to organic substance; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0055085 transmembrane transport # Gene3D 3.40.50.300 -; 2. # Genevisible Q09428 HS # HGNC HGNC:59 ABCC8 # InterPro IPR000388 Sulphorea_rcpt # InterPro IPR000844 ABCC8 # InterPro IPR003439 ABC_transporter-like # InterPro IPR003593 AAA+_ATPase # InterPro IPR011527 ABC1_TM_dom # InterPro IPR017871 ABC_transporter_CS # InterPro IPR027417 P-loop_NTPase # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02000 Transporters # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00512 [Metabolic disease; Endocrine disease] Permanent neonatal diabetes mellitus (PNDM) # KEGG_Disease H00513 [Metabolic disease; Endocrine disease] Transient neonatal diabetes mellitus (TNDM) # KEGG_Disease H01267 [Inherited metabolic disease] Familial hyperinsulinemic hypoglycemia (HHF) # KEGG_Pathway ko02010 ABC transporters # KEGG_Pathway ko04930 Type II diabetes mellitus # MIM 240800 phenotype # MIM 256450 phenotype # MIM 600509 gene # MIM 602485 phenotype # MIM 606176 phenotype # MIM 610374 phenotype # Organism ABCC8_HUMAN Homo sapiens (Human) # Orphanet 276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency # Orphanet 276598 Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency # Orphanet 552 MODY # Orphanet 79134 DEND syndrome # Orphanet 79643 Autosomal recessive hyperinsulinism due to SUR1 deficiency # Orphanet 99885 Permanent neonatal diabetes mellitus # Orphanet 99886 Transient neonatal diabetes mellitus # PANTHER PTHR24223:SF187 PTHR24223:SF187; 4 # PRINTS PR01092 SULFNYLUREAR # PRINTS PR01093 SULFNYLUR1 # PROSITE PS00211 ABC_TRANSPORTER_1; 2 # PROSITE PS50893 ABC_TRANSPORTER_2; 2 # PROSITE PS50929 ABC_TM1F; 2 # Pfam PF00005 ABC_tran; 2 # Pfam PF00664 ABC_membrane; 2 # Proteomes UP000005640 Chromosome 11 # Reactome R-HSA-1296025 ATP sensitive Potassium channels # Reactome R-HSA-382556 ABC-family proteins mediated transport # Reactome R-HSA-422356 Regulation of insulin secretion # Reactome R-HSA-5683177 Defective ABCC8 can cause hypoglycemias and hyperglycemias # RecName ABCC8_HUMAN ATP-binding cassette sub-family C member 8 # RefSeq NP_000343 NM_000352.4. [Q09428-1] # RefSeq NP_001274103 NM_001287174.1. [Q09428-2] # SIMILARITY Belongs to the ABC transporter superfamily. ABCC family. Conjugate transporter (TC 3.A.1.208) subfamily. {ECO 0000305}. # SIMILARITY Contains 2 ABC transmembrane type-1 domains. {ECO:0000255|PROSITE-ProRule PRU00441}. # SIMILARITY Contains 2 ABC transporter domains. {ECO:0000255|PROSITE-ProRule PRU00434}. # SMART SM00382 AAA; 2 # SUBCELLULAR LOCATION ABCC8_HUMAN Cell membrane {ECO 0000269|PubMed 24814349}; Multi-pass membrane protein {ECO 0000255}. # SUBUNIT ABCC8_HUMAN Interacts with KCNJ11. # SUPFAM SSF52540 SSF52540; 2 # SUPFAM SSF90123 SSF90123; 2 # TCDB 3.A.1.208 the atp-binding cassette (abc) superfamily # UCSC uc001mnc human. [Q09428-1] # WEB RESOURCE ABCC8_HUMAN Name=ABCMdb; Note=Database for mutations in ABC proteins; URL="http //abcmutations.hegelab.org/proteinDetails?uniprot_id=Q09428"; # eggNOG COG1132 LUCA # eggNOG KOG0054 Eukaryota BLAST swissprot:ABCC8_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ABCC8_HUMAN BioCyc ZFISH:ENSG00000006071-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000006071-MONOMER COXPRESdb 6833 http://coxpresdb.jp/data/gene/6833.shtml CleanEx HS_ABCC8 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ABCC8 DIP DIP-58642N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-58642N DOI 10.1002/(SICI)1098-1004(1999)13:5<351::AID-HUMU3>3.0.CO http://dx.doi.org/10.1002/(SICI)1098-1004(1999)13:5<351::AID-HUMU3>3.0.CO DOI 10.1002/(SICI)1098-1004(1999)14:1<23::AID-HUMU3>3.0.CO http://dx.doi.org/10.1002/(SICI)1098-1004(1999)14:1<23::AID-HUMU3>3.0.CO DOI 10.1002/humu.9401 http://dx.doi.org/10.1002/humu.9401 DOI 10.1007/s00018-011-0739-x http://dx.doi.org/10.1007/s00018-011-0739-x DOI 10.1038/modpathol.3800497 http://dx.doi.org/10.1038/modpathol.3800497 DOI 10.1038/nature04632 http://dx.doi.org/10.1038/nature04632 DOI 10.1056/NEJM199904153401505 http://dx.doi.org/10.1056/NEJM199904153401505 DOI 10.1056/NEJMoa055068 http://dx.doi.org/10.1056/NEJMoa055068 DOI 10.1073/pnas.051499698 http://dx.doi.org/10.1073/pnas.051499698 DOI 10.1074/jbc.274.41.29122 http://dx.doi.org/10.1074/jbc.274.41.29122 DOI 10.1074/jbc.M200363200 http://dx.doi.org/10.1074/jbc.M200363200 DOI 10.1086/519174 http://dx.doi.org/10.1086/519174 DOI 10.1093/hmg/5.11.1813 http://dx.doi.org/10.1093/hmg/5.11.1813 DOI 10.1093/hmg/7.7.1119 http://dx.doi.org/10.1093/hmg/7.7.1119 DOI 10.1093/hmg/ddl101 http://dx.doi.org/10.1093/hmg/ddl101 DOI 10.1111/cge.12428 http://dx.doi.org/10.1111/cge.12428 DOI 10.1111/j.1365-2265.2005.02242.x http://dx.doi.org/10.1111/j.1365-2265.2005.02242.x DOI 10.1126/science.272.5269.1785 http://dx.doi.org/10.1126/science.272.5269.1785 DOI 10.1126/science.7716548 http://dx.doi.org/10.1126/science.7716548 DOI 10.1172/JCI4495 http://dx.doi.org/10.1172/JCI4495 DOI 10.1172/JCI9804 http://dx.doi.org/10.1172/JCI9804 DOI 10.1210/edrv.20.2.0361 http://dx.doi.org/10.1210/edrv.20.2.0361 DOI 10.1210/jc.2002-020378 http://dx.doi.org/10.1210/jc.2002-020378 DOI 10.1210/jc.2004-0441 http://dx.doi.org/10.1210/jc.2004-0441 DOI 10.1210/jc.2004-1233 http://dx.doi.org/10.1210/jc.2004-1233 DOI 10.1210/jc.2004-1604 http://dx.doi.org/10.1210/jc.2004-1604 DOI 10.1210/jc.2006-2490 http://dx.doi.org/10.1210/jc.2006-2490 DOI 10.1515/jpem-2014-0265 http://dx.doi.org/10.1515/jpem-2014-0265 DOI 10.2337/diab.45.6.825 http://dx.doi.org/10.2337/diab.45.6.825 DOI 10.2337/diabetes.47.3.476 http://dx.doi.org/10.2337/diabetes.47.3.476 DOI 10.2337/diabetes.47.4.598 http://dx.doi.org/10.2337/diabetes.47.4.598 DOI 10.2337/diabetes.47.7.1145 http://dx.doi.org/10.2337/diabetes.47.7.1145 DOI 10.2337/diabetes.48.2.408 http://dx.doi.org/10.2337/diabetes.48.2.408 DOI 10.2337/diabetes.49.1.114 http://dx.doi.org/10.2337/diabetes.49.1.114 DOI 10.2337/diabetes.52.9.2403 http://dx.doi.org/10.2337/diabetes.52.9.2403 DrugBank DB00171 http://www.drugbank.ca/drugs/DB00171 DrugBank DB00222 http://www.drugbank.ca/drugs/DB00222 DrugBank DB00672 http://www.drugbank.ca/drugs/DB00672 DrugBank DB00731 http://www.drugbank.ca/drugs/DB00731 DrugBank DB00912 http://www.drugbank.ca/drugs/DB00912 DrugBank DB01016 http://www.drugbank.ca/drugs/DB01016 DrugBank DB01067 http://www.drugbank.ca/drugs/DB01067 DrugBank DB01120 http://www.drugbank.ca/drugs/DB01120 DrugBank DB01124 http://www.drugbank.ca/drugs/DB01124 DrugBank DB01251 http://www.drugbank.ca/drugs/DB01251 DrugBank DB01252 http://www.drugbank.ca/drugs/DB01252 DrugBank DB01382 http://www.drugbank.ca/drugs/DB01382 EMBL AC124798 http://www.ebi.ac.uk/ena/data/view/AC124798 EMBL AF087138 http://www.ebi.ac.uk/ena/data/view/AF087138 EMBL HM635782 http://www.ebi.ac.uk/ena/data/view/HM635782 EMBL L40625 http://www.ebi.ac.uk/ena/data/view/L40625 EMBL L78207 http://www.ebi.ac.uk/ena/data/view/L78207 EMBL L78208 http://www.ebi.ac.uk/ena/data/view/L78208 EMBL L78208 http://www.ebi.ac.uk/ena/data/view/L78208 EMBL L78209 http://www.ebi.ac.uk/ena/data/view/L78209 EMBL L78209 http://www.ebi.ac.uk/ena/data/view/L78209 EMBL L78210 http://www.ebi.ac.uk/ena/data/view/L78210 EMBL L78210 http://www.ebi.ac.uk/ena/data/view/L78210 EMBL L78211 http://www.ebi.ac.uk/ena/data/view/L78211 EMBL L78211 http://www.ebi.ac.uk/ena/data/view/L78211 EMBL L78212 http://www.ebi.ac.uk/ena/data/view/L78212 EMBL L78212 http://www.ebi.ac.uk/ena/data/view/L78212 EMBL L78213 http://www.ebi.ac.uk/ena/data/view/L78213 EMBL L78213 http://www.ebi.ac.uk/ena/data/view/L78213 EMBL L78214 http://www.ebi.ac.uk/ena/data/view/L78214 EMBL L78214 http://www.ebi.ac.uk/ena/data/view/L78214 EMBL L78215 http://www.ebi.ac.uk/ena/data/view/L78215 EMBL L78215 http://www.ebi.ac.uk/ena/data/view/L78215 EMBL L78216 http://www.ebi.ac.uk/ena/data/view/L78216 EMBL L78216 http://www.ebi.ac.uk/ena/data/view/L78216 EMBL L78217 http://www.ebi.ac.uk/ena/data/view/L78217 EMBL L78217 http://www.ebi.ac.uk/ena/data/view/L78217 EMBL L78218 http://www.ebi.ac.uk/ena/data/view/L78218 EMBL L78218 http://www.ebi.ac.uk/ena/data/view/L78218 EMBL L78219 http://www.ebi.ac.uk/ena/data/view/L78219 EMBL L78219 http://www.ebi.ac.uk/ena/data/view/L78219 EMBL L78220 http://www.ebi.ac.uk/ena/data/view/L78220 EMBL L78220 http://www.ebi.ac.uk/ena/data/view/L78220 EMBL L78221 http://www.ebi.ac.uk/ena/data/view/L78221 EMBL L78221 http://www.ebi.ac.uk/ena/data/view/L78221 EMBL L78222 http://www.ebi.ac.uk/ena/data/view/L78222 EMBL L78222 http://www.ebi.ac.uk/ena/data/view/L78222 EMBL L78223 http://www.ebi.ac.uk/ena/data/view/L78223 EMBL L78224 http://www.ebi.ac.uk/ena/data/view/L78224 EMBL L78225 http://www.ebi.ac.uk/ena/data/view/L78225 EMBL L78225 http://www.ebi.ac.uk/ena/data/view/L78225 EMBL L78226 http://www.ebi.ac.uk/ena/data/view/L78226 EMBL L78226 http://www.ebi.ac.uk/ena/data/view/L78226 EMBL L78227 http://www.ebi.ac.uk/ena/data/view/L78227 EMBL L78227 http://www.ebi.ac.uk/ena/data/view/L78227 EMBL L78228 http://www.ebi.ac.uk/ena/data/view/L78228 EMBL L78228 http://www.ebi.ac.uk/ena/data/view/L78228 EMBL L78229 http://www.ebi.ac.uk/ena/data/view/L78229 EMBL L78229 http://www.ebi.ac.uk/ena/data/view/L78229 EMBL L78230 http://www.ebi.ac.uk/ena/data/view/L78230 EMBL L78230 http://www.ebi.ac.uk/ena/data/view/L78230 EMBL L78231 http://www.ebi.ac.uk/ena/data/view/L78231 EMBL L78231 http://www.ebi.ac.uk/ena/data/view/L78231 EMBL L78232 http://www.ebi.ac.uk/ena/data/view/L78232 EMBL L78232 http://www.ebi.ac.uk/ena/data/view/L78232 EMBL L78233 http://www.ebi.ac.uk/ena/data/view/L78233 EMBL L78233 http://www.ebi.ac.uk/ena/data/view/L78233 EMBL L78234 http://www.ebi.ac.uk/ena/data/view/L78234 EMBL L78234 http://www.ebi.ac.uk/ena/data/view/L78234 EMBL L78235 http://www.ebi.ac.uk/ena/data/view/L78235 EMBL L78235 http://www.ebi.ac.uk/ena/data/view/L78235 EMBL L78236 http://www.ebi.ac.uk/ena/data/view/L78236 EMBL L78236 http://www.ebi.ac.uk/ena/data/view/L78236 EMBL L78237 http://www.ebi.ac.uk/ena/data/view/L78237 EMBL L78237 http://www.ebi.ac.uk/ena/data/view/L78237 EMBL L78238 http://www.ebi.ac.uk/ena/data/view/L78238 EMBL L78238 http://www.ebi.ac.uk/ena/data/view/L78238 EMBL L78239 http://www.ebi.ac.uk/ena/data/view/L78239 EMBL L78239 http://www.ebi.ac.uk/ena/data/view/L78239 EMBL L78240 http://www.ebi.ac.uk/ena/data/view/L78240 EMBL L78240 http://www.ebi.ac.uk/ena/data/view/L78240 EMBL L78241 http://www.ebi.ac.uk/ena/data/view/L78241 EMBL L78241 http://www.ebi.ac.uk/ena/data/view/L78241 EMBL L78242 http://www.ebi.ac.uk/ena/data/view/L78242 EMBL L78242 http://www.ebi.ac.uk/ena/data/view/L78242 EMBL L78243 http://www.ebi.ac.uk/ena/data/view/L78243 EMBL L78243 http://www.ebi.ac.uk/ena/data/view/L78243 EMBL L78254 http://www.ebi.ac.uk/ena/data/view/L78254 EMBL L78254 http://www.ebi.ac.uk/ena/data/view/L78254 EMBL L78255 http://www.ebi.ac.uk/ena/data/view/L78255 EMBL L78255 http://www.ebi.ac.uk/ena/data/view/L78255 EMBL U63421 http://www.ebi.ac.uk/ena/data/view/U63421 EMBL U63422 http://www.ebi.ac.uk/ena/data/view/U63422 EMBL U63423 http://www.ebi.ac.uk/ena/data/view/U63423 EMBL U63424 http://www.ebi.ac.uk/ena/data/view/U63424 EMBL U63425 http://www.ebi.ac.uk/ena/data/view/U63425 EMBL U63426 http://www.ebi.ac.uk/ena/data/view/U63426 EMBL U63427 http://www.ebi.ac.uk/ena/data/view/U63427 EMBL U63428 http://www.ebi.ac.uk/ena/data/view/U63428 EMBL U63429 http://www.ebi.ac.uk/ena/data/view/U63429 EMBL U63430 http://www.ebi.ac.uk/ena/data/view/U63430 EMBL U63431 http://www.ebi.ac.uk/ena/data/view/U63431 EMBL U63432 http://www.ebi.ac.uk/ena/data/view/U63432 EMBL U63433 http://www.ebi.ac.uk/ena/data/view/U63433 EMBL U63434 http://www.ebi.ac.uk/ena/data/view/U63434 EMBL U63435 http://www.ebi.ac.uk/ena/data/view/U63435 EMBL U63436 http://www.ebi.ac.uk/ena/data/view/U63436 EMBL U63437 http://www.ebi.ac.uk/ena/data/view/U63437 EMBL U63438 http://www.ebi.ac.uk/ena/data/view/U63438 EMBL U63439 http://www.ebi.ac.uk/ena/data/view/U63439 EMBL U63441 http://www.ebi.ac.uk/ena/data/view/U63441 EMBL U63442 http://www.ebi.ac.uk/ena/data/view/U63442 EMBL U63443 http://www.ebi.ac.uk/ena/data/view/U63443 EMBL U63444 http://www.ebi.ac.uk/ena/data/view/U63444 EMBL U63445 http://www.ebi.ac.uk/ena/data/view/U63445 EMBL U63446 http://www.ebi.ac.uk/ena/data/view/U63446 EMBL U63447 http://www.ebi.ac.uk/ena/data/view/U63447 EMBL U63448 http://www.ebi.ac.uk/ena/data/view/U63448 EMBL U63449 http://www.ebi.ac.uk/ena/data/view/U63449 EMBL U63450 http://www.ebi.ac.uk/ena/data/view/U63450 EMBL U63451 http://www.ebi.ac.uk/ena/data/view/U63451 EMBL U63452 http://www.ebi.ac.uk/ena/data/view/U63452 EMBL U63453 http://www.ebi.ac.uk/ena/data/view/U63453 EMBL U63454 http://www.ebi.ac.uk/ena/data/view/U63454 EMBL U63455 http://www.ebi.ac.uk/ena/data/view/U63455 Ensembl ENST00000302539 http://www.ensembl.org/id/ENST00000302539 Ensembl ENST00000389817 http://www.ensembl.org/id/ENST00000389817 Ensembl ENST00000612903 http://www.ensembl.org/id/ENST00000612903 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0008076 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008076 GO_component GO:0030672 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030672 GO_component GO:0042383 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042383 GO_function GO:0005267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005267 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0008281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008281 GO_function GO:0015272 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015272 GO_function GO:0043225 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043225 GO_function GO:0044325 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044325 GO_process GO:0006813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006813 GO_process GO:0009268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009268 GO_process GO:0010043 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010043 GO_process GO:0032496 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032496 GO_process GO:0032868 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032868 GO_process GO:0042493 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042493 GO_process GO:0043268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043268 GO_process GO:0046676 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046676 GO_process GO:0050796 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050796 GO_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GO_process GO:0071310 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071310 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 3.40.50.300 http://www.cathdb.info/version/latest/superfamily/3.40.50.300 GeneCards ABCC8 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ABCC8 GeneID 6833 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6833 GeneTree ENSGT00860000133722 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00860000133722 H-InvDB HIX0035864 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0035864 HGNC HGNC:59 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:59 HOVERGEN HBG101342 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG101342&db=HOVERGEN HPA CAB011451 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB011451 HPA HPA042318 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA042318 InParanoid Q09428 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q09428 InterPro IPR000388 http://www.ebi.ac.uk/interpro/entry/IPR000388 InterPro IPR000844 http://www.ebi.ac.uk/interpro/entry/IPR000844 InterPro IPR003439 http://www.ebi.ac.uk/interpro/entry/IPR003439 InterPro IPR003593 http://www.ebi.ac.uk/interpro/entry/IPR003593 InterPro IPR011527 http://www.ebi.ac.uk/interpro/entry/IPR011527 InterPro IPR017871 http://www.ebi.ac.uk/interpro/entry/IPR017871 InterPro IPR027417 http://www.ebi.ac.uk/interpro/entry/IPR027417 Jabion 6833 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6833 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00512 http://www.genome.jp/dbget-bin/www_bget?H00512 KEGG_Disease H00513 http://www.genome.jp/dbget-bin/www_bget?H00513 KEGG_Disease H01267 http://www.genome.jp/dbget-bin/www_bget?H01267 KEGG_Gene hsa:6833 http://www.genome.jp/dbget-bin/www_bget?hsa:6833 KEGG_Orthology KO:K05032 http://www.genome.jp/dbget-bin/www_bget?KO:K05032 KEGG_Pathway ko02010 http://www.genome.jp/kegg-bin/show_pathway?ko02010 KEGG_Pathway ko04930 http://www.genome.jp/kegg-bin/show_pathway?ko04930 MIM 240800 http://www.ncbi.nlm.nih.gov/omim/240800 MIM 256450 http://www.ncbi.nlm.nih.gov/omim/256450 MIM 600509 http://www.ncbi.nlm.nih.gov/omim/600509 MIM 602485 http://www.ncbi.nlm.nih.gov/omim/602485 MIM 606176 http://www.ncbi.nlm.nih.gov/omim/606176 MIM 610374 http://www.ncbi.nlm.nih.gov/omim/610374 OMA QGQASKY http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=QGQASKY Orphanet 276575 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=276575 Orphanet 276598 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=276598 Orphanet 552 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=552 Orphanet 79134 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=79134 Orphanet 79643 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=79643 Orphanet 99885 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=99885 Orphanet 99886 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=99886 OrthoDB EOG091G00IN http://cegg.unige.ch/orthodb/results?searchtext=EOG091G00IN PANTHER PTHR24223:SF187 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24223:SF187 PRINTS PR01092 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01092 PRINTS PR01093 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01093 PROSITE PS00211 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00211 PROSITE PS50893 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50893 PROSITE PS50929 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50929 PSORT swissprot:ABCC8_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ABCC8_HUMAN PSORT-B swissprot:ABCC8_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ABCC8_HUMAN PSORT2 swissprot:ABCC8_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ABCC8_HUMAN Pfam PF00005 http://pfam.xfam.org/family/PF00005 Pfam PF00664 http://pfam.xfam.org/family/PF00664 PharmGKB PA24395 http://www.pharmgkb.org/do/serve?objId=PA24395&objCls=Gene Phobius swissprot:ABCC8_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ABCC8_HUMAN PhylomeDB Q09428 http://phylomedb.org/?seqid=Q09428 ProteinModelPortal Q09428 http://www.proteinmodelportal.org/query/uniprot/Q09428 PubMed 10202168 http://www.ncbi.nlm.nih.gov/pubmed/10202168 PubMed 10204114 http://www.ncbi.nlm.nih.gov/pubmed/10204114 PubMed 10334322 http://www.ncbi.nlm.nih.gov/pubmed/10334322 PubMed 10338089 http://www.ncbi.nlm.nih.gov/pubmed/10338089 PubMed 10447255 http://www.ncbi.nlm.nih.gov/pubmed/10447255 PubMed 10506167 http://www.ncbi.nlm.nih.gov/pubmed/10506167 PubMed 10615958 http://www.ncbi.nlm.nih.gov/pubmed/10615958 PubMed 11018078 http://www.ncbi.nlm.nih.gov/pubmed/11018078 PubMed 11226335 http://www.ncbi.nlm.nih.gov/pubmed/11226335 PubMed 11867634 http://www.ncbi.nlm.nih.gov/pubmed/11867634 PubMed 12364426 http://www.ncbi.nlm.nih.gov/pubmed/12364426 PubMed 12941782 http://www.ncbi.nlm.nih.gov/pubmed/12941782 PubMed 15356046 http://www.ncbi.nlm.nih.gov/pubmed/15356046 PubMed 15562009 http://www.ncbi.nlm.nih.gov/pubmed/15562009 PubMed 15579781 http://www.ncbi.nlm.nih.gov/pubmed/15579781 PubMed 15807877 http://www.ncbi.nlm.nih.gov/pubmed/15807877 PubMed 16357843 http://www.ncbi.nlm.nih.gov/pubmed/16357843 PubMed 16429405 http://www.ncbi.nlm.nih.gov/pubmed/16429405 PubMed 16554811 http://www.ncbi.nlm.nih.gov/pubmed/16554811 PubMed 16613899 http://www.ncbi.nlm.nih.gov/pubmed/16613899 PubMed 16885549 http://www.ncbi.nlm.nih.gov/pubmed/16885549 PubMed 17213273 http://www.ncbi.nlm.nih.gov/pubmed/17213273 PubMed 17668386 http://www.ncbi.nlm.nih.gov/pubmed/17668386 PubMed 21671119 http://www.ncbi.nlm.nih.gov/pubmed/21671119 PubMed 24814349 http://www.ncbi.nlm.nih.gov/pubmed/24814349 PubMed 25720052 http://www.ncbi.nlm.nih.gov/pubmed/25720052 PubMed 7716548 http://www.ncbi.nlm.nih.gov/pubmed/7716548 PubMed 8635661 http://www.ncbi.nlm.nih.gov/pubmed/8635661 PubMed 8650576 http://www.ncbi.nlm.nih.gov/pubmed/8650576 PubMed 8751851 http://www.ncbi.nlm.nih.gov/pubmed/8751851 PubMed 8923011 http://www.ncbi.nlm.nih.gov/pubmed/8923011 PubMed 9519757 http://www.ncbi.nlm.nih.gov/pubmed/9519757 PubMed 9568693 http://www.ncbi.nlm.nih.gov/pubmed/9568693 PubMed 9618169 http://www.ncbi.nlm.nih.gov/pubmed/9618169 PubMed 9648840 http://www.ncbi.nlm.nih.gov/pubmed/9648840 PubMed 9769320 http://www.ncbi.nlm.nih.gov/pubmed/9769320 Reactome R-HSA-1296025 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1296025 Reactome R-HSA-382556 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-382556 Reactome R-HSA-422356 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-422356 Reactome R-HSA-5683177 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5683177 RefSeq NP_000343 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000343 RefSeq NP_001274103 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001274103 SMART SM00382 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00382 STRING 9606.ENSP00000374467 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000374467&targetmode=cogs SUPFAM SSF52540 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52540 SUPFAM SSF90123 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF90123 TCDB 3.A.1.208 http://www.tcdb.org/search/result.php?tc=3.A.1.208 UCSC uc001mnc http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001mnc&org=rat UniGene Hs.54470 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.54470 UniProtKB ABCC8_HUMAN http://www.uniprot.org/uniprot/ABCC8_HUMAN UniProtKB-AC Q09428 http://www.uniprot.org/uniprot/Q09428 charge swissprot:ABCC8_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ABCC8_HUMAN eggNOG COG1132 http://eggnogapi.embl.de/nog_data/html/tree/COG1132 eggNOG KOG0054 http://eggnogapi.embl.de/nog_data/html/tree/KOG0054 epestfind swissprot:ABCC8_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ABCC8_HUMAN garnier swissprot:ABCC8_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ABCC8_HUMAN helixturnhelix swissprot:ABCC8_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ABCC8_HUMAN hmoment swissprot:ABCC8_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ABCC8_HUMAN iep swissprot:ABCC8_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ABCC8_HUMAN inforesidue swissprot:ABCC8_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ABCC8_HUMAN neXtProt NX_Q09428 http://www.nextprot.org/db/entry/NX_Q09428 octanol swissprot:ABCC8_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ABCC8_HUMAN pepcoil swissprot:ABCC8_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ABCC8_HUMAN pepdigest swissprot:ABCC8_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ABCC8_HUMAN pepinfo swissprot:ABCC8_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ABCC8_HUMAN pepnet swissprot:ABCC8_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ABCC8_HUMAN pepstats swissprot:ABCC8_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ABCC8_HUMAN pepwheel swissprot:ABCC8_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ABCC8_HUMAN pepwindow swissprot:ABCC8_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ABCC8_HUMAN sigcleave swissprot:ABCC8_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ABCC8_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS GRIA4_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P48058-1; Sequence=Displayed; Name=2; IsoId=P48058-2; Sequence=VSP_042742, VSP_042743; Note=No experimental confirmation available.; # AltName GRIA4_HUMAN AMPA-selective glutamate receptor 4 # AltName GRIA4_HUMAN GluR-D # AltName GRIA4_HUMAN Glutamate receptor ionotropic, AMPA 4 # BioGrid 109150 7 # CCDS CCDS41707 -. [P48058-2] # CCDS CCDS8333 -. [P48058-1] # ChiTaRS GRIA4 human # DOMAIN GRIA4_HUMAN The M4 transmembrane segment mediates tetramerization and is required for cell surface expression. {ECO 0000250}. # DrugBank DB00898 Ethanol # Ensembl ENST00000282499 ENSP00000282499; ENSG00000152578. [P48058-1] # Ensembl ENST00000393125 ENSP00000376833; ENSG00000152578. [P48058-2] # Ensembl ENST00000428631 ENSP00000415551; ENSG00000152578. [P48058-2] # Ensembl ENST00000530497 ENSP00000435775; ENSG00000152578. [P48058-1] # ExpressionAtlas P48058 baseline and differential # FUNCTION GRIA4_HUMAN Receptor for glutamate that functions as ligand-gated ion channel in the central nervous system and plays an important role in excitatory synaptic transmission. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. Binding of the excitatory neurotransmitter L- glutamate induces a conformation change, leading to the opening of the cation channel, and thereby converts the chemical signal to an electrical impulse. The receptor then desensitizes rapidly and enters a transient inactive state, characterized by the presence of bound agonist. In the presence of CACNG4 or CACNG7 or CACNG8, shows resensitization which is characterized by a delayed accumulation of current flux upon continued application of glutamate. {ECO 0000269|PubMed 21172611}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0030425 dendrite; IEA:UniProtKB-SubCell. # GO_component GO:0030666 endocytic vesicle membrane; TAS:Reactome. # GO_component GO:0032281 AMPA glutamate receptor complex; ISS:UniProtKB. # GO_component GO:0045211 postsynaptic membrane; IEA:UniProtKB-SubCell. # GO_component GO:1903561 extracellular vesicle; IDA:UniProtKB. # GO_function GO:0004970 ionotropic glutamate receptor activity; ISS:UniProtKB. # GO_function GO:0004971 AMPA glutamate receptor activity; IDA:UniProtKB. # GO_function GO:0005231 excitatory extracellular ligand-gated ion channel activity; TAS:Reactome. # GO_function GO:0005234 extracellular-glutamate-gated ion channel activity; IEA:InterPro. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0007215 glutamate receptor signaling pathway; TAS:ProtInc. # GO_process GO:0007268 chemical synaptic transmission; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0007267 cell-cell signaling # Genevisible P48058 HS # HGNC HGNC:4574 GRIA4 # InterPro IPR001320 Iontro_rcpt # InterPro IPR001508 Iono_rcpt_met # InterPro IPR001828 ANF_lig-bd_rcpt # InterPro IPR019594 Glu/Gly-bd # InterPro IPR028082 Peripla_BP_I # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04080 Neuroactive ligand-receptor interaction # KEGG_Pathway ko04713 Circadian entrainment # KEGG_Pathway ko04723 Retrograde endocannabinoid signaling # KEGG_Pathway ko04724 Glutamatergic synapse # KEGG_Pathway ko04728 Dopaminergic synapse # KEGG_Pathway ko05031 Amphetamine addiction # KEGG_Pathway ko05033 Nicotine addiction # MIM 138246 gene # MISCELLANEOUS GRIA4_HUMAN The postsynaptic actions of Glu are mediated by a variety of receptors that are named according to their selective agonists. This receptor binds AMPA (quisqualate) > glutamate > kainate. # Organism GRIA4_HUMAN Homo sapiens (Human) # PRINTS PR00177 NMDARECEPTOR # PTM GRIA4_HUMAN Palmitoylated. Depalmitoylated upon glutamate stimulation. Cys-611 palmitoylation leads to Golgi retention and decreased cell surface expression. In contrast, Cys-837 palmitoylation does not affect cell surface expression but regulates stimulation-dependent endocytosis (By similarity). {ECO 0000250}. # PTM GRIA4_HUMAN Phosphorylated at Ser-862 by PRKCG; phosphorylation increases plasma membrane-associated GRI4 expression. {ECO 0000250}. # Pfam PF00060 Lig_chan # Pfam PF01094 ANF_receptor # Pfam PF10613 Lig_chan-Glu_bd # Proteomes UP000005640 Chromosome 11 # Reactome R-HSA-399710 Activation of AMPA receptors # Reactome R-HSA-399719 Trafficking of AMPA receptors # Reactome R-HSA-416993 Trafficking of GluR2-containing AMPA receptors # Reactome R-HSA-438066 Unblocking of NMDA receptor, glutamate binding and activation # Reactome R-HSA-8849932 SALM protein interactions at the synapses # RecName GRIA4_HUMAN Glutamate receptor 4 # RefSeq NP_000820 NM_000829.3 # RefSeq NP_001070711 NM_001077243.2 # RefSeq NP_001070712 NM_001077244.1. [P48058-2] # RefSeq NP_001106283 NM_001112812.1. [P48058-2] # RefSeq XP_006718886 XM_006718823.1. [P48058-1] # SIMILARITY Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. GRIA4 subfamily. {ECO 0000305}. # SMART SM00079 PBPe # SMART SM00918 Lig_chan-Glu_bd # SUBCELLULAR LOCATION GRIA4_HUMAN Cell membrane; Multi-pass membrane protein. Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell projection, dendrite. Note=Interaction with CNIH2, CNIH3 and PRKCG promotes cell surface expression. {ECO 0000250}. # SUBUNIT Homotetramer or heterotetramer of pore-forming glutamate receptor subunits. Tetramers may be formed by the dimerization of dimers. Interacts with EPB41L1 via its C-terminus (By similarity). Found in a complex with GRIA1, GRIA2, GRIA3, CNIH2, CNIH3, CACNG2, CACNG3, CACNG4, CACNG5, CACNG7 and CACNG8. Interacts with CACNG5 and PRKCG (By similarity). {ECO 0000250}. # SUPFAM SSF53822 SSF53822 # UCSC uc001piu human. [P48058-1] # eggNOG ENOG410XPSH LUCA # eggNOG KOG1054 Eukaryota BLAST swissprot:GRIA4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:GRIA4_HUMAN BioCyc ZFISH:ENSG00000152578-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000152578-MONOMER COXPRESdb 2893 http://coxpresdb.jp/data/gene/2893.shtml CleanEx HS_GRIA4 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_GRIA4 DOI 10.1016/j.neuron.2010.11.026 http://dx.doi.org/10.1016/j.neuron.2010.11.026 DOI 10.1038/nature04632 http://dx.doi.org/10.1038/nature04632 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DrugBank DB00898 http://www.drugbank.ca/drugs/DB00898 EMBL AP000641 http://www.ebi.ac.uk/ena/data/view/AP000641 EMBL AP000673 http://www.ebi.ac.uk/ena/data/view/AP000673 EMBL AP000813 http://www.ebi.ac.uk/ena/data/view/AP000813 EMBL AP001561 http://www.ebi.ac.uk/ena/data/view/AP001561 EMBL BC045546 http://www.ebi.ac.uk/ena/data/view/BC045546 EMBL BC142654 http://www.ebi.ac.uk/ena/data/view/BC142654 EMBL BC150209 http://www.ebi.ac.uk/ena/data/view/BC150209 EMBL U16129 http://www.ebi.ac.uk/ena/data/view/U16129 Ensembl ENST00000282499 http://www.ensembl.org/id/ENST00000282499 Ensembl ENST00000393125 http://www.ensembl.org/id/ENST00000393125 Ensembl ENST00000428631 http://www.ensembl.org/id/ENST00000428631 Ensembl ENST00000530497 http://www.ensembl.org/id/ENST00000530497 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0030425 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030425 GO_component GO:0030666 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030666 GO_component GO:0032281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032281 GO_component GO:0045211 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045211 GO_component GO:1903561 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903561 GO_function GO:0004970 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004970 GO_function GO:0004971 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004971 GO_function GO:0005231 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005231 GO_function GO:0005234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005234 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0007215 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007215 GO_process GO:0007268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007268 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GeneCards GRIA4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=GRIA4 GeneID 2893 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=2893 GeneTree ENSGT00760000118920 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118920 H-InvDB HIX0026176 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0026176 HGNC HGNC:4574 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:4574 HOGENOM HOG000234372 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000234372&db=HOGENOM6 HOVERGEN HBG051839 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG051839&db=HOVERGEN InParanoid P48058 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P48058 IntAct P48058 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P48058* InterPro IPR001320 http://www.ebi.ac.uk/interpro/entry/IPR001320 InterPro IPR001508 http://www.ebi.ac.uk/interpro/entry/IPR001508 InterPro IPR001828 http://www.ebi.ac.uk/interpro/entry/IPR001828 InterPro IPR019594 http://www.ebi.ac.uk/interpro/entry/IPR019594 InterPro IPR028082 http://www.ebi.ac.uk/interpro/entry/IPR028082 Jabion 2893 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=2893 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:2893 http://www.genome.jp/dbget-bin/www_bget?hsa:2893 KEGG_Orthology KO:K05200 http://www.genome.jp/dbget-bin/www_bget?KO:K05200 KEGG_Pathway ko04080 http://www.genome.jp/kegg-bin/show_pathway?ko04080 KEGG_Pathway ko04713 http://www.genome.jp/kegg-bin/show_pathway?ko04713 KEGG_Pathway ko04723 http://www.genome.jp/kegg-bin/show_pathway?ko04723 KEGG_Pathway ko04724 http://www.genome.jp/kegg-bin/show_pathway?ko04724 KEGG_Pathway ko04728 http://www.genome.jp/kegg-bin/show_pathway?ko04728 KEGG_Pathway ko05031 http://www.genome.jp/kegg-bin/show_pathway?ko05031 KEGG_Pathway ko05033 http://www.genome.jp/kegg-bin/show_pathway?ko05033 MIM 138246 http://www.ncbi.nlm.nih.gov/omim/138246 MINT MINT-95403 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-95403 OMA STGPRKX http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=STGPRKX OrthoDB EOG091G11CB http://cegg.unige.ch/orthodb/results?searchtext=EOG091G11CB PRINTS PR00177 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00177 PSORT swissprot:GRIA4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:GRIA4_HUMAN PSORT-B swissprot:GRIA4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:GRIA4_HUMAN PSORT2 swissprot:GRIA4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:GRIA4_HUMAN Pfam PF00060 http://pfam.xfam.org/family/PF00060 Pfam PF01094 http://pfam.xfam.org/family/PF01094 Pfam PF10613 http://pfam.xfam.org/family/PF10613 PharmGKB PA28969 http://www.pharmgkb.org/do/serve?objId=PA28969&objCls=Gene Phobius swissprot:GRIA4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:GRIA4_HUMAN PhylomeDB P48058 http://phylomedb.org/?seqid=P48058 ProteinModelPortal P48058 http://www.proteinmodelportal.org/query/uniprot/P48058 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16554811 http://www.ncbi.nlm.nih.gov/pubmed/16554811 PubMed 21172611 http://www.ncbi.nlm.nih.gov/pubmed/21172611 PubMed 8589990 http://www.ncbi.nlm.nih.gov/pubmed/8589990 Reactome R-HSA-399710 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-399710 Reactome R-HSA-399719 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-399719 Reactome R-HSA-416993 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-416993 Reactome R-HSA-438066 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-438066 Reactome R-HSA-8849932 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-8849932 RefSeq NP_000820 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000820 RefSeq NP_001070711 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001070711 RefSeq NP_001070712 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001070712 RefSeq NP_001106283 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001106283 RefSeq XP_006718886 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006718886 SMART SM00079 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00079 SMART SM00918 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00918 SMR P48058 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P48058 STRING 9606.ENSP00000282499 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000282499&targetmode=cogs SUPFAM SSF53822 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF53822 UCSC uc001piu http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001piu&org=rat UniGene Hs.503743 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.503743 UniProtKB GRIA4_HUMAN http://www.uniprot.org/uniprot/GRIA4_HUMAN UniProtKB-AC P48058 http://www.uniprot.org/uniprot/P48058 charge swissprot:GRIA4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:GRIA4_HUMAN eggNOG ENOG410XPSH http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XPSH eggNOG KOG1054 http://eggnogapi.embl.de/nog_data/html/tree/KOG1054 epestfind swissprot:GRIA4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:GRIA4_HUMAN garnier swissprot:GRIA4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:GRIA4_HUMAN helixturnhelix swissprot:GRIA4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:GRIA4_HUMAN hmoment swissprot:GRIA4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:GRIA4_HUMAN iep swissprot:GRIA4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:GRIA4_HUMAN inforesidue swissprot:GRIA4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:GRIA4_HUMAN neXtProt NX_P48058 http://www.nextprot.org/db/entry/NX_P48058 octanol swissprot:GRIA4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:GRIA4_HUMAN pepcoil swissprot:GRIA4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:GRIA4_HUMAN pepdigest swissprot:GRIA4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:GRIA4_HUMAN pepinfo swissprot:GRIA4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:GRIA4_HUMAN pepnet swissprot:GRIA4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:GRIA4_HUMAN pepstats swissprot:GRIA4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:GRIA4_HUMAN pepwheel swissprot:GRIA4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:GRIA4_HUMAN pepwindow swissprot:GRIA4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:GRIA4_HUMAN sigcleave swissprot:GRIA4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:GRIA4_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS B3A4_HUMAN Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q96Q91-1; Sequence=Displayed; Name=2; IsoId=Q96Q91-2; Sequence=VSP_007085, VSP_007086, VSP_007087; Name=3; IsoId=Q96Q91-3; Sequence=VSP_007085; Name=4; IsoId=Q96Q91-4; Sequence=VSP_007085, VSP_044785; Note=No experimental confirmation available.; # AltName B3A4_HUMAN Sodium bicarbonate cotransporter 5 # AltName B3A4_HUMAN Solute carrier family 4 member 9 # CCDS CCDS47278 -. [Q96Q91-3] # CCDS CCDS58973 -. [Q96Q91-1] # CCDS CCDS58974 -. [Q96Q91-4] # CCDS CCDS58975 -. [Q96Q91-2] # Ensembl ENST00000432095 ENSP00000410056; ENSG00000113073. [Q96Q91-2] # Ensembl ENST00000506545 ENSP00000422855; ENSG00000113073. [Q96Q91-4] # Ensembl ENST00000506757 ENSP00000424424; ENSG00000113073. [Q96Q91-3] # Ensembl ENST00000507527 ENSP00000427661; ENSG00000113073. [Q96Q91-1] # FUNCTION B3A4_HUMAN Probable apical anion exchanger of the kidney cortex. {ECO 0000250}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0045177 apical part of cell; IEA:Ensembl. # GO_function B3A4_HUMAN GO 0008510 sodium bicarbonate symporter activity; TAS Reactome. # GO_function B3A4_HUMAN GO 0015301 anion anion antiporter activity; IEA UniProtKB-KW. # GO_function GO:0005452 inorganic anion exchanger activity; IEA:InterPro. # GO_function GO:0008509 anion transmembrane transporter activity; IBA:GO_Central. # GO_process GO:0015701 bicarbonate transport; IBA:GO_Central. # GO_process GO:0051453 regulation of intracellular pH; IBA:GO_Central. # GO_process GO:0098656 anion transmembrane transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 3.40.1100.10 -; 1. # Genevisible Q96Q91 HS # HGNC HGNC:11035 SLC4A9 # InterPro IPR003020 HCO3_transpt_euk # InterPro IPR003024 Na/HCO3_transpt # InterPro IPR011531 HCO3_transpt_C # InterPro IPR013769 Band3_cytoplasmic_dom # InterPro IPR016152 PTrfase/Anion_transptr # KEGG_Brite ko02001 Solute carrier family # MIM 610207 gene # Organism B3A4_HUMAN Homo sapiens (Human) # PANTHER PTHR11453 PTHR11453; 2 # PRINTS PR01231 HCO3TRNSPORT # PRINTS PR01232 NAHCO3TRSPRT # Pfam PF00955 HCO3_cotransp # Pfam PF07565 Band_3_cyto; 2 # Proteomes UP000005640 Chromosome 5 # Reactome R-HSA-425381 Bicarbonate transporters # RecName B3A4_HUMAN Anion exchange protein 4 # RefSeq NP_001245355 NM_001258426.1. [Q96Q91-2] # RefSeq NP_001245356 NM_001258427.1. [Q96Q91-4] # RefSeq NP_001245357 NM_001258428.1. [Q96Q91-1] # RefSeq NP_113655 NM_031467.2. [Q96Q91-3] # SEQUENCE CAUTION Sequence=AAK28832.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the anion exchanger (TC 2.A.31) family. {ECO 0000305}. # SUBCELLULAR LOCATION B3A4_HUMAN Membrane; Multi-pass membrane protein. # SUPFAM SSF55804 SSF55804 # TCDB 2.A.31.2.13 the anion exchanger (ae) family # TIGRFAMs TIGR00834 ae # TISSUE SPECIFICITY Kidney specific. {ECO:0000269|PubMed 11305939, ECO:0000269|Ref.7}. # UCSC uc003lfk human. [Q96Q91-1] # eggNOG ENOG410XPHD LUCA # eggNOG KOG1172 Eukaryota BLAST swissprot:B3A4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:B3A4_HUMAN COXPRESdb 83697 http://coxpresdb.jp/data/gene/83697.shtml CleanEx HS_SLC4A9 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC4A9 DOI 10.1006/bbrc.2001.4692 http://dx.doi.org/10.1006/bbrc.2001.4692 DOI 10.1038/nature02919 http://dx.doi.org/10.1038/nature02919 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/gb-2001-2-4-research0011 http://dx.doi.org/10.1186/gb-2001-2-4-research0011 EMBL AB032762 http://www.ebi.ac.uk/ena/data/view/AB032762 EMBL AC008438 http://www.ebi.ac.uk/ena/data/view/AC008438 EMBL AF313465 http://www.ebi.ac.uk/ena/data/view/AF313465 EMBL AF332961 http://www.ebi.ac.uk/ena/data/view/AF332961 EMBL AF336237 http://www.ebi.ac.uk/ena/data/view/AF336237 EMBL BC136262 http://www.ebi.ac.uk/ena/data/view/BC136262 EMBL BC143602 http://www.ebi.ac.uk/ena/data/view/BC143602 EMBL CH471062 http://www.ebi.ac.uk/ena/data/view/CH471062 EMBL CH471062 http://www.ebi.ac.uk/ena/data/view/CH471062 EMBL CH471062 http://www.ebi.ac.uk/ena/data/view/CH471062 EMBL CH471062 http://www.ebi.ac.uk/ena/data/view/CH471062 EMBL CH471062 http://www.ebi.ac.uk/ena/data/view/CH471062 EMBL CH471062 http://www.ebi.ac.uk/ena/data/view/CH471062 Ensembl ENST00000432095 http://www.ensembl.org/id/ENST00000432095 Ensembl ENST00000506545 http://www.ensembl.org/id/ENST00000506545 Ensembl ENST00000506757 http://www.ensembl.org/id/ENST00000506757 Ensembl ENST00000507527 http://www.ensembl.org/id/ENST00000507527 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0045177 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045177 GO_function GO:0005452 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005452 GO_function GO:0008509 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008509 GO_function GO:0008510 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008510 GO_function GO:0015301 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015301 GO_process GO:0015701 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015701 GO_process GO:0051453 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051453 GO_process GO:0098656 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0098656 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 3.40.1100.10 http://www.cathdb.info/version/latest/superfamily/3.40.1100.10 GeneCards SLC4A9 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC4A9 GeneID 83697 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=83697 GeneTree ENSGT00760000119021 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119021 H-InvDB HIX0031939 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0031939 HGNC HGNC:11035 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11035 HOGENOM HOG000280684 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000280684&db=HOGENOM6 HOVERGEN HBG004326 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG004326&db=HOVERGEN HPA HPA051307 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA051307 InParanoid Q96Q91 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q96Q91 InterPro IPR003020 http://www.ebi.ac.uk/interpro/entry/IPR003020 InterPro IPR003024 http://www.ebi.ac.uk/interpro/entry/IPR003024 InterPro IPR011531 http://www.ebi.ac.uk/interpro/entry/IPR011531 InterPro IPR013769 http://www.ebi.ac.uk/interpro/entry/IPR013769 InterPro IPR016152 http://www.ebi.ac.uk/interpro/entry/IPR016152 Jabion 83697 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=83697 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:83697 http://www.genome.jp/dbget-bin/www_bget?hsa:83697 KEGG_Orthology KO:K13860 http://www.genome.jp/dbget-bin/www_bget?KO:K13860 MIM 610207 http://www.ncbi.nlm.nih.gov/omim/610207 OMA QELLWLD http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=QELLWLD OrthoDB EOG091G01FT http://cegg.unige.ch/orthodb/results?searchtext=EOG091G01FT PANTHER PTHR11453 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11453 PRINTS PR01231 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01231 PRINTS PR01232 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01232 PSORT swissprot:B3A4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:B3A4_HUMAN PSORT-B swissprot:B3A4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:B3A4_HUMAN PSORT2 swissprot:B3A4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:B3A4_HUMAN Pfam PF00955 http://pfam.xfam.org/family/PF00955 Pfam PF07565 http://pfam.xfam.org/family/PF07565 PharmGKB PA35901 http://www.pharmgkb.org/do/serve?objId=PA35901&objCls=Gene Phobius swissprot:B3A4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:B3A4_HUMAN PhylomeDB Q96Q91 http://phylomedb.org/?seqid=Q96Q91 ProteinModelPortal Q96Q91 http://www.proteinmodelportal.org/query/uniprot/Q96Q91 PubMed 11302728 http://www.ncbi.nlm.nih.gov/pubmed/11302728 PubMed 11305939 http://www.ncbi.nlm.nih.gov/pubmed/11305939 PubMed 15372022 http://www.ncbi.nlm.nih.gov/pubmed/15372022 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 Reactome R-HSA-425381 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-425381 RefSeq NP_001245355 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001245355 RefSeq NP_001245356 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001245356 RefSeq NP_001245357 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001245357 RefSeq NP_113655 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_113655 STRING 9606.ENSP00000424424 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000424424&targetmode=cogs SUPFAM SSF55804 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF55804 TCDB 2.A.31.2.13 http://www.tcdb.org/search/result.php?tc=2.A.31.2.13 TIGRFAMs TIGR00834 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00834 UCSC uc003lfk http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003lfk&org=rat UniGene Hs.550313 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.550313 UniProtKB B3A4_HUMAN http://www.uniprot.org/uniprot/B3A4_HUMAN UniProtKB-AC Q96Q91 http://www.uniprot.org/uniprot/Q96Q91 charge swissprot:B3A4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:B3A4_HUMAN eggNOG ENOG410XPHD http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XPHD eggNOG KOG1172 http://eggnogapi.embl.de/nog_data/html/tree/KOG1172 epestfind swissprot:B3A4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:B3A4_HUMAN garnier swissprot:B3A4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:B3A4_HUMAN helixturnhelix swissprot:B3A4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:B3A4_HUMAN hmoment swissprot:B3A4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:B3A4_HUMAN iep swissprot:B3A4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:B3A4_HUMAN inforesidue swissprot:B3A4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:B3A4_HUMAN neXtProt NX_Q96Q91 http://www.nextprot.org/db/entry/NX_Q96Q91 octanol swissprot:B3A4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:B3A4_HUMAN pepcoil swissprot:B3A4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:B3A4_HUMAN pepdigest swissprot:B3A4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:B3A4_HUMAN pepinfo swissprot:B3A4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:B3A4_HUMAN pepnet swissprot:B3A4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:B3A4_HUMAN pepstats swissprot:B3A4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:B3A4_HUMAN pepwheel swissprot:B3A4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:B3A4_HUMAN pepwindow swissprot:B3A4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:B3A4_HUMAN sigcleave swissprot:B3A4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:B3A4_HUMAN ## Database ID URL or Descriptions # BioGrid 115876 60 # ChiTaRS ATP5L human # Ensembl ENST00000300688 ENSP00000300688; ENSG00000167283 # ExpressionAtlas O75964 baseline and differential # FUNCTION ATP5L_HUMAN Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(0) domain. Minor subunit located with subunit a in the membrane. # GO_component GO:0000276 mitochondrial proton-transporting ATP synthase complex, coupling factor F(o); IBA:GO_Central. # GO_component GO:0005739 mitochondrion; IDA:LIFEdb. # GO_component GO:0005743 mitochondrial inner membrane; TAS:Reactome. # GO_component GO:0005753 mitochondrial proton-transporting ATP synthase complex; IDA:UniProtKB. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0015078 hydrogen ion transmembrane transporter activity; IEA:InterPro. # GO_function GO:0022857 transmembrane transporter activity; IC:UniProtKB. # GO_process GO:0006754 ATP biosynthetic process; TAS:Reactome. # GO_process GO:0015986 ATP synthesis coupled proton transport; IBA:GO_Central. # GO_process GO:0042776 mitochondrial ATP synthesis coupled proton transport; IC:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005739 mitochondrion # GOslim_component GO:0043226 organelle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0044281 small molecule metabolic process # GOslim_process GO:0055085 transmembrane transport # Genevisible O75964 HS # HGNC HGNC:14247 ATP5L # IntAct O75964 21 # InterPro IPR006808 ATP_synth_F0_gsu_mt # InterPro IPR016702 ATP_synth_su_G_mt_met # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Brite ko01000 Enzymes # KEGG_Pathway ko00190 Oxidative phosphorylation # Organism ATP5L_HUMAN Homo sapiens (Human) # PANTHER PTHR12386 PTHR12386 # PIR T08727 T08727 # PIRSF PIRSF017835 ATP-synth_g_mitoch_animal # Pfam PF04718 ATP-synt_G # Proteomes UP000005640 Chromosome 11 # Reactome R-HSA-163210 Formation of ATP by chemiosmotic coupling # RecName ATP5L_HUMAN ATP synthase subunit g, mitochondrial # RefSeq NP_006467 NM_006476.4 # SIMILARITY Belongs to the ATPase g subunit family. {ECO 0000305}. # SUBCELLULAR LOCATION ATP5L_HUMAN Mitochondrion. Mitochondrion inner membrane. # SUBUNIT F-type ATPases have 2 components, CF(1) - the catalytic core - and CF(0) - the membrane proton channel. CF(0) seems to have nine subunits: a, b, c, d, e, f, g, F6 and 8 (or A6L). Component of an ATP synthase complex composed of ATP5F1, ATP5G1, ATP5E, ATP5H, ATP5I, ATP5J, ATP5J2, MT-ATP6, MT-ATP8, ATP5A1, ATP5B, ATP5D, ATP5C1, ATP5O, ATP5L, USMG5 and MP68 (By similarity). {ECO 0000250}. # UCSC uc001psx human # eggNOG ENOG4111TZ1 LUCA # eggNOG KOG4103 Eukaryota BLAST swissprot:ATP5L_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ATP5L_HUMAN BioCyc ZFISH:HS09535-MONOMER http://biocyc.org/getid?id=ZFISH:HS09535-MONOMER COXPRESdb 10632 http://coxpresdb.jp/data/gene/10632.shtml CleanEx HS_ATP5L http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ATP5L DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/ac9004309 http://dx.doi.org/10.1021/ac9004309 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.140200 http://dx.doi.org/10.1101/gr.140200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1101/gr.GR1547R http://dx.doi.org/10.1101/gr.GR1547R DOI 10.1126/science.1175371 http://dx.doi.org/10.1126/science.1175371 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AF070655 http://www.ebi.ac.uk/ena/data/view/AF070655 EMBL AF087846 http://www.ebi.ac.uk/ena/data/view/AF087846 EMBL AF092124 http://www.ebi.ac.uk/ena/data/view/AF092124 EMBL AK289568 http://www.ebi.ac.uk/ena/data/view/AK289568 EMBL AL050277 http://www.ebi.ac.uk/ena/data/view/AL050277 EMBL BC015128 http://www.ebi.ac.uk/ena/data/view/BC015128 EMBL BC070165 http://www.ebi.ac.uk/ena/data/view/BC070165 EMBL CH471065 http://www.ebi.ac.uk/ena/data/view/CH471065 EMBL CR533494 http://www.ebi.ac.uk/ena/data/view/CR533494 EMBL CR542211 http://www.ebi.ac.uk/ena/data/view/CR542211 Ensembl ENST00000300688 http://www.ensembl.org/id/ENST00000300688 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000276 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000276 GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0005753 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005753 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0015078 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015078 GO_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GO_process GO:0006754 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006754 GO_process GO:0015986 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015986 GO_process GO:0042776 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042776 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards ATP5L http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ATP5L GeneID 10632 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=10632 GeneTree ENSGT00390000009724 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000009724 HGNC HGNC:14247 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:14247 HOGENOM HOG000007506 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000007506&db=HOGENOM6 HOVERGEN HBG050614 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050614&db=HOVERGEN HPA HPA044629 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA044629 InParanoid O75964 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O75964 IntAct O75964 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O75964* InterPro IPR006808 http://www.ebi.ac.uk/interpro/entry/IPR006808 InterPro IPR016702 http://www.ebi.ac.uk/interpro/entry/IPR016702 Jabion 10632 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=10632 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00002 http://www.genome.jp/dbget-bin/www_bget?ko00002 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Gene hsa:10632 http://www.genome.jp/dbget-bin/www_bget?hsa:10632 KEGG_Orthology KO:K02140 http://www.genome.jp/dbget-bin/www_bget?KO:K02140 KEGG_Pathway ko00190 http://www.genome.jp/kegg-bin/show_pathway?ko00190 MINT MINT-3002124 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-3002124 OMA WQYAKVE http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=WQYAKVE OrthoDB EOG091G16ZZ http://cegg.unige.ch/orthodb/results?searchtext=EOG091G16ZZ PANTHER PTHR12386 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12386 PSORT swissprot:ATP5L_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ATP5L_HUMAN PSORT-B swissprot:ATP5L_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ATP5L_HUMAN PSORT2 swissprot:ATP5L_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ATP5L_HUMAN Pfam PF04718 http://pfam.xfam.org/family/PF04718 PharmGKB PA25143 http://www.pharmgkb.org/do/serve?objId=PA25143&objCls=Gene Phobius swissprot:ATP5L_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ATP5L_HUMAN PhylomeDB O75964 http://phylomedb.org/?seqid=O75964 ProteinModelPortal O75964 http://www.proteinmodelportal.org/query/uniprot/O75964 PubMed 11042152 http://www.ncbi.nlm.nih.gov/pubmed/11042152 PubMed 11230166 http://www.ncbi.nlm.nih.gov/pubmed/11230166 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 19413330 http://www.ncbi.nlm.nih.gov/pubmed/19413330 PubMed 19608861 http://www.ncbi.nlm.nih.gov/pubmed/19608861 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 Reactome R-HSA-163210 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-163210 RefSeq NP_006467 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_006467 STRING 9606.ENSP00000300688 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000300688&targetmode=cogs UCSC uc001psx http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001psx&org=rat UniGene Hs.486360 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.486360 UniProtKB ATP5L_HUMAN http://www.uniprot.org/uniprot/ATP5L_HUMAN UniProtKB-AC O75964 http://www.uniprot.org/uniprot/O75964 charge swissprot:ATP5L_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ATP5L_HUMAN eggNOG ENOG4111TZ1 http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111TZ1 eggNOG KOG4103 http://eggnogapi.embl.de/nog_data/html/tree/KOG4103 epestfind swissprot:ATP5L_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ATP5L_HUMAN garnier swissprot:ATP5L_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ATP5L_HUMAN helixturnhelix swissprot:ATP5L_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ATP5L_HUMAN hmoment swissprot:ATP5L_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ATP5L_HUMAN iep swissprot:ATP5L_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ATP5L_HUMAN inforesidue swissprot:ATP5L_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ATP5L_HUMAN neXtProt NX_O75964 http://www.nextprot.org/db/entry/NX_O75964 octanol swissprot:ATP5L_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ATP5L_HUMAN pepcoil swissprot:ATP5L_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ATP5L_HUMAN pepdigest swissprot:ATP5L_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ATP5L_HUMAN pepinfo swissprot:ATP5L_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ATP5L_HUMAN pepnet swissprot:ATP5L_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ATP5L_HUMAN pepstats swissprot:ATP5L_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ATP5L_HUMAN pepwheel swissprot:ATP5L_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ATP5L_HUMAN pepwindow swissprot:ATP5L_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ATP5L_HUMAN sigcleave swissprot:ATP5L_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ATP5L_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S22A8_HUMAN Event=Alternative splicing; Named isoforms=5; Name=1; IsoId=Q8TCC7-1; Sequence=Displayed; Name=2; IsoId=Q8TCC7-2; Sequence=VSP_022565; Note=No experimental confirmation available.; Name=5; IsoId=Q8TCC7-5; Sequence=VSP_045824; Note=No experimental confirmation available.; Name=3; IsoId=Q8TCC7-3; Sequence=VSP_022562, VSP_022563, VSP_022564; Note=No experimental confirmation available.; Name=4; IsoId=Q8TCC7-4; Sequence=VSP_045272; Note=No experimental confirmation available.; # AltName S22A8_HUMAN Organic anion transporter 3 # CCDS CCDS53643 -. [Q8TCC7-5] # CCDS CCDS53644 -. [Q8TCC7-4] # CCDS CCDS8042 -. [Q8TCC7-1] # CDD cd06174 MFS # DrugBank DB00139 Succinic acid # DrugBank DB00168 Aspartame # DrugBank DB00175 Pravastatin # DrugBank DB00181 Baclofen # DrugBank DB00198 Oseltamivir # DrugBank DB00254 Doxycycline # DrugBank DB00279 Liothyronine # DrugBank DB00286 Conjugated Estrogens # DrugBank DB00300 Tenofovir # DrugBank DB00313 Valproic Acid # DrugBank DB00328 Indomethacin # DrugBank DB00345 Aminohippurate # DrugBank DB00390 Digoxin # DrugBank DB00437 Allopurinol # DrugBank DB00456 Cefalotin # DrugBank DB00469 Tenoxicam # DrugBank DB00493 Cefotaxime # DrugBank DB00495 Zidovudine # DrugBank DB00501 Cimetidine # DrugBank DB00536 Guanidine # DrugBank DB00554 Piroxicam # DrugBank DB00563 Methotrexate # DrugBank DB00567 Cephalexin # DrugBank DB00577 Valaciclovir # DrugBank DB00583 L-Carnitine # DrugBank DB00584 Enalapril # DrugBank DB00586 Diclofenac # DrugBank DB00595 Oxytetracycline # DrugBank DB00624 Testosterone # DrugBank DB00695 Furosemide # DrugBank DB00718 Adefovir Dipivoxil # DrugBank DB00759 Tetracycline # DrugBank DB00783 Estradiol # DrugBank DB00787 Aciclovir # DrugBank DB00812 Phenylbutazone # DrugBank DB00863 Ranitidine # DrugBank DB00887 Bumetanide # DrugBank DB00908 Quinidine # DrugBank DB00917 Dinoprostone # DrugBank DB00927 Famotidine # DrugBank DB00936 Salicylic acid # DrugBank DB01004 Ganciclovir # DrugBank DB01009 Ketoprofen # DrugBank DB01017 Minocycline # DrugBank DB01032 Probenecid # DrugBank DB01033 Mercaptopurine # DrugBank DB01050 Ibuprofen # DrugBank DB01051 Novobiocin # DrugBank DB01053 Benzylpenicillin # DrugBank DB01065 Melatonin # DrugBank DB01092 Ouabain # DrugBank DB01140 Cefadroxil # DrugBank DB01160 Dinoprost Tromethamine # DrugBank DB01212 Ceftriaxone # DrugBank DB01326 Cefamandole # DrugBank DB01327 Cefazolin # DrugBank DB01329 Cefoperazone # DrugBank DB01414 Cefacetrile # DrugBank DB01583 Liotrix # DrugBank DB01597 Cilastatin # DrugBank DB02659 Cholic Acid # DrugBank DB03793 Benzoic Acid # DrugBank DB06335 Saxagliptin # DrugBank DB06710 Methyltestosterone # DrugBank DB08912 Dabrafenib # DrugBank DB09060 Avibactam # DrugBank DB09272 Eluxadoline # Ensembl ENST00000336232 ENSP00000337335; ENSG00000149452. [Q8TCC7-1] # Ensembl ENST00000430500 ENSP00000398548; ENSG00000149452. [Q8TCC7-1] # Ensembl ENST00000535878 ENSP00000443368; ENSG00000149452. [Q8TCC7-5] # Ensembl ENST00000545207 ENSP00000441658; ENSG00000149452. [Q8TCC7-4] # ExpressionAtlas Q8TCC7 baseline and differential # FUNCTION S22A8_HUMAN Plays an important role in the excretion/detoxification of endogenous and exogenous organic anions, especially from the brain and kidney. Involved in the transport basolateral of steviol, fexofenadine. Transports benzylpenicillin (PCG), estrone- 3-sulfate (E1S), cimetidine (CMD), 2,4-dichloro-phenoxyacetate (2,4-D), p-amino-hippurate (PAH), acyclovir (ACV) and ochratoxin (OTA). {ECO 0000269|PubMed 14586168, ECO 0000269|PubMed 15644426, ECO 0000269|PubMed 15846473, ECO 0000269|PubMed 16455804}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0016323 basolateral plasma membrane; IDA:UniProtKB. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0005452 inorganic anion exchanger activity; IDA:UniProtKB. # GO_function GO:0015347 sodium-independent organic anion transmembrane transporter activity; IBA:GO_Central. # GO_function S22A8_HUMAN GO 0015301 anion anion antiporter activity; TAS Reactome. # GO_process GO:0009636 response to toxic substance; IEA:UniProtKB-KW. # GO_process GO:0043252 sodium-independent organic anion transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # Genevisible Q8TCC7 HS # HGNC HGNC:10972 SLC22A8 # InterPro IPR004749 Orgcat_transp/SVOP # InterPro IPR005828 MFS_sugar_transport-like # InterPro IPR005829 Sugar_transporter_CS # InterPro IPR020846 MFS_dom # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02000 Transporters # KEGG_Brite ko02001 Solute carrier family # KEGG_Pathway ko04976 Bile secretion # MIM 607581 gene # Organism S22A8_HUMAN Homo sapiens (Human) # PROSITE PS50850 MFS # Pfam PF00083 Sugar_tr # Proteomes UP000005640 Chromosome 11 # Reactome R-HSA-561048 Organic anion transport # RecName S22A8_HUMAN Solute carrier family 22 member 8 # RefSeq NP_001171661 NM_001184732.1. [Q8TCC7-1] # RefSeq NP_001171662 NM_001184733.1. [Q8TCC7-4] # RefSeq NP_001171665 NM_001184736.1. [Q8TCC7-5] # RefSeq NP_004245 NM_004254.3. [Q8TCC7-1] # RefSeq XP_011543666 XM_011545364.1. [Q8TCC7-5] # SEQUENCE CAUTION Sequence=AAD19357.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305}; Sequence=BAD92929.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family. {ECO 0000305}. # SUBCELLULAR LOCATION S22A8_HUMAN Basolateral cell membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. Note=Localizes on the brush border membrane of the choroid epithelial cells. Localizes to the basolateral membrane of the proximal tubular cells. Localizes on the abluminal and possibly, luminal membrane of the brain capillary endothelial cells (BCEC) (By similarity). {ECO 0000250}. # SUPFAM SSF103473 SSF103473 # TCDB 2.A.1.19.34 the major facilitator superfamily (mfs) # TIGRFAMs TIGR00898 2A0119 # TISSUE SPECIFICITY Expressed in kidney. {ECO:0000269|PubMed 11912245}. # UCSC uc001nwo human. [Q8TCC7-1] # eggNOG COG0477 LUCA # eggNOG KOG0255 Eukaryota BLAST swissprot:S22A8_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S22A8_HUMAN BioCyc ZFISH:ENSG00000168534-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000168534-MONOMER COXPRESdb 9376 http://coxpresdb.jp/data/gene/9376.shtml CleanEx HS_SLC22A8 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC22A8 DOI 10.1006/bbrc.1998.9978 http://dx.doi.org/10.1006/bbrc.1998.9978 DOI 10.1007/s11095-005-2503-0 http://dx.doi.org/10.1007/s11095-005-2503-0 DOI 10.1016/S0009-9236(03)00060-2 http://dx.doi.org/10.1016/S0009-9236(03)00060-2 DOI 10.1038/nature04632 http://dx.doi.org/10.1038/nature04632 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1124/dmd.105.008375 http://dx.doi.org/10.1124/dmd.105.008375 DOI 10.1124/jpet.104.080366 http://dx.doi.org/10.1124/jpet.104.080366 DOI 10.1152/ajprenal.00272.2005 http://dx.doi.org/10.1152/ajprenal.00272.2005 DOI 10.1159/000074539 http://dx.doi.org/10.1159/000074539 DrugBank DB00139 http://www.drugbank.ca/drugs/DB00139 DrugBank DB00168 http://www.drugbank.ca/drugs/DB00168 DrugBank DB00175 http://www.drugbank.ca/drugs/DB00175 DrugBank DB00181 http://www.drugbank.ca/drugs/DB00181 DrugBank DB00198 http://www.drugbank.ca/drugs/DB00198 DrugBank DB00254 http://www.drugbank.ca/drugs/DB00254 DrugBank DB00279 http://www.drugbank.ca/drugs/DB00279 DrugBank DB00286 http://www.drugbank.ca/drugs/DB00286 DrugBank DB00300 http://www.drugbank.ca/drugs/DB00300 DrugBank DB00313 http://www.drugbank.ca/drugs/DB00313 DrugBank DB00328 http://www.drugbank.ca/drugs/DB00328 DrugBank DB00345 http://www.drugbank.ca/drugs/DB00345 DrugBank DB00390 http://www.drugbank.ca/drugs/DB00390 DrugBank DB00437 http://www.drugbank.ca/drugs/DB00437 DrugBank DB00456 http://www.drugbank.ca/drugs/DB00456 DrugBank DB00469 http://www.drugbank.ca/drugs/DB00469 DrugBank DB00493 http://www.drugbank.ca/drugs/DB00493 DrugBank DB00495 http://www.drugbank.ca/drugs/DB00495 DrugBank DB00501 http://www.drugbank.ca/drugs/DB00501 DrugBank DB00536 http://www.drugbank.ca/drugs/DB00536 DrugBank DB00554 http://www.drugbank.ca/drugs/DB00554 DrugBank DB00563 http://www.drugbank.ca/drugs/DB00563 DrugBank DB00567 http://www.drugbank.ca/drugs/DB00567 DrugBank DB00577 http://www.drugbank.ca/drugs/DB00577 DrugBank DB00583 http://www.drugbank.ca/drugs/DB00583 DrugBank DB00584 http://www.drugbank.ca/drugs/DB00584 DrugBank DB00586 http://www.drugbank.ca/drugs/DB00586 DrugBank DB00595 http://www.drugbank.ca/drugs/DB00595 DrugBank DB00624 http://www.drugbank.ca/drugs/DB00624 DrugBank DB00695 http://www.drugbank.ca/drugs/DB00695 DrugBank DB00718 http://www.drugbank.ca/drugs/DB00718 DrugBank DB00759 http://www.drugbank.ca/drugs/DB00759 DrugBank DB00783 http://www.drugbank.ca/drugs/DB00783 DrugBank DB00787 http://www.drugbank.ca/drugs/DB00787 DrugBank DB00812 http://www.drugbank.ca/drugs/DB00812 DrugBank DB00863 http://www.drugbank.ca/drugs/DB00863 DrugBank DB00887 http://www.drugbank.ca/drugs/DB00887 DrugBank DB00908 http://www.drugbank.ca/drugs/DB00908 DrugBank DB00917 http://www.drugbank.ca/drugs/DB00917 DrugBank DB00927 http://www.drugbank.ca/drugs/DB00927 DrugBank DB00936 http://www.drugbank.ca/drugs/DB00936 DrugBank DB01004 http://www.drugbank.ca/drugs/DB01004 DrugBank DB01009 http://www.drugbank.ca/drugs/DB01009 DrugBank DB01017 http://www.drugbank.ca/drugs/DB01017 DrugBank DB01032 http://www.drugbank.ca/drugs/DB01032 DrugBank DB01033 http://www.drugbank.ca/drugs/DB01033 DrugBank DB01050 http://www.drugbank.ca/drugs/DB01050 DrugBank DB01051 http://www.drugbank.ca/drugs/DB01051 DrugBank DB01053 http://www.drugbank.ca/drugs/DB01053 DrugBank DB01065 http://www.drugbank.ca/drugs/DB01065 DrugBank DB01092 http://www.drugbank.ca/drugs/DB01092 DrugBank DB01140 http://www.drugbank.ca/drugs/DB01140 DrugBank DB01160 http://www.drugbank.ca/drugs/DB01160 DrugBank DB01212 http://www.drugbank.ca/drugs/DB01212 DrugBank DB01326 http://www.drugbank.ca/drugs/DB01326 DrugBank DB01327 http://www.drugbank.ca/drugs/DB01327 DrugBank DB01329 http://www.drugbank.ca/drugs/DB01329 DrugBank DB01414 http://www.drugbank.ca/drugs/DB01414 DrugBank DB01583 http://www.drugbank.ca/drugs/DB01583 DrugBank DB01597 http://www.drugbank.ca/drugs/DB01597 DrugBank DB02659 http://www.drugbank.ca/drugs/DB02659 DrugBank DB03793 http://www.drugbank.ca/drugs/DB03793 DrugBank DB06335 http://www.drugbank.ca/drugs/DB06335 DrugBank DB06710 http://www.drugbank.ca/drugs/DB06710 DrugBank DB08912 http://www.drugbank.ca/drugs/DB08912 DrugBank DB09060 http://www.drugbank.ca/drugs/DB09060 DrugBank DB09272 http://www.drugbank.ca/drugs/DB09272 EMBL AB042505 http://www.ebi.ac.uk/ena/data/view/AB042505 EMBL AB209692 http://www.ebi.ac.uk/ena/data/view/AB209692 EMBL AF097491 http://www.ebi.ac.uk/ena/data/view/AF097491 EMBL AK298341 http://www.ebi.ac.uk/ena/data/view/AK298341 EMBL AP001858 http://www.ebi.ac.uk/ena/data/view/AP001858 EMBL BC022387 http://www.ebi.ac.uk/ena/data/view/BC022387 Ensembl ENST00000336232 http://www.ensembl.org/id/ENST00000336232 Ensembl ENST00000430500 http://www.ensembl.org/id/ENST00000430500 Ensembl ENST00000535878 http://www.ensembl.org/id/ENST00000535878 Ensembl ENST00000545207 http://www.ensembl.org/id/ENST00000545207 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016323 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0005452 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005452 GO_function GO:0015301 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015301 GO_function GO:0015347 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015347 GO_process GO:0009636 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009636 GO_process GO:0043252 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043252 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GeneCards SLC22A8 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC22A8 GeneID 9376 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=9376 GeneTree ENSGT00760000118852 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118852 HGNC HGNC:10972 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10972 HOGENOM HOG000234569 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000234569&db=HOGENOM6 HOVERGEN HBG108433 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG108433&db=HOVERGEN HPA HPA044174 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA044174 InParanoid Q8TCC7 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8TCC7 IntAct Q8TCC7 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q8TCC7* InterPro IPR004749 http://www.ebi.ac.uk/interpro/entry/IPR004749 InterPro IPR005828 http://www.ebi.ac.uk/interpro/entry/IPR005828 InterPro IPR005829 http://www.ebi.ac.uk/interpro/entry/IPR005829 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 9376 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=9376 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:9376 http://www.genome.jp/dbget-bin/www_bget?hsa:9376 KEGG_Orthology KO:K08205 http://www.genome.jp/dbget-bin/www_bget?KO:K08205 KEGG_Pathway ko04976 http://www.genome.jp/kegg-bin/show_pathway?ko04976 MIM 607581 http://www.ncbi.nlm.nih.gov/omim/607581 OMA SMESRFE http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=SMESRFE OrthoDB EOG091G0738 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0738 PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PSORT swissprot:S22A8_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S22A8_HUMAN PSORT-B swissprot:S22A8_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S22A8_HUMAN PSORT2 swissprot:S22A8_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S22A8_HUMAN Pfam PF00083 http://pfam.xfam.org/family/PF00083 PharmGKB PA389 http://www.pharmgkb.org/do/serve?objId=PA389&objCls=Gene Phobius swissprot:S22A8_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S22A8_HUMAN PhylomeDB Q8TCC7 http://phylomedb.org/?seqid=Q8TCC7 ProteinModelPortal Q8TCC7 http://www.proteinmodelportal.org/query/uniprot/Q8TCC7 PubMed 10049739 http://www.ncbi.nlm.nih.gov/pubmed/10049739 PubMed 11912245 http://www.ncbi.nlm.nih.gov/pubmed/11912245 PubMed 12811365 http://www.ncbi.nlm.nih.gov/pubmed/12811365 PubMed 14586168 http://www.ncbi.nlm.nih.gov/pubmed/14586168 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15644426 http://www.ncbi.nlm.nih.gov/pubmed/15644426 PubMed 15846473 http://www.ncbi.nlm.nih.gov/pubmed/15846473 PubMed 16291576 http://www.ncbi.nlm.nih.gov/pubmed/16291576 PubMed 16455804 http://www.ncbi.nlm.nih.gov/pubmed/16455804 PubMed 16554811 http://www.ncbi.nlm.nih.gov/pubmed/16554811 Reactome R-HSA-561048 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-561048 RefSeq NP_001171661 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001171661 RefSeq NP_001171662 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001171662 RefSeq NP_001171665 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001171665 RefSeq NP_004245 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004245 RefSeq XP_011543666 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011543666 STRING 9606.ENSP00000337335 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000337335&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.1.19.34 http://www.tcdb.org/search/result.php?tc=2.A.1.19.34 TIGRFAMs TIGR00898 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00898 UCSC uc001nwo http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001nwo&org=rat UniGene Hs.266223 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.266223 UniProtKB S22A8_HUMAN http://www.uniprot.org/uniprot/S22A8_HUMAN UniProtKB-AC Q8TCC7 http://www.uniprot.org/uniprot/Q8TCC7 charge swissprot:S22A8_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S22A8_HUMAN eggNOG COG0477 http://eggnogapi.embl.de/nog_data/html/tree/COG0477 eggNOG KOG0255 http://eggnogapi.embl.de/nog_data/html/tree/KOG0255 epestfind swissprot:S22A8_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S22A8_HUMAN garnier swissprot:S22A8_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S22A8_HUMAN helixturnhelix swissprot:S22A8_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S22A8_HUMAN hmoment swissprot:S22A8_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S22A8_HUMAN iep swissprot:S22A8_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S22A8_HUMAN inforesidue swissprot:S22A8_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S22A8_HUMAN neXtProt NX_Q8TCC7 http://www.nextprot.org/db/entry/NX_Q8TCC7 octanol swissprot:S22A8_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S22A8_HUMAN pepcoil swissprot:S22A8_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S22A8_HUMAN pepdigest swissprot:S22A8_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S22A8_HUMAN pepinfo swissprot:S22A8_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S22A8_HUMAN pepnet swissprot:S22A8_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S22A8_HUMAN pepstats swissprot:S22A8_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S22A8_HUMAN pepwheel swissprot:S22A8_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S22A8_HUMAN pepwindow swissprot:S22A8_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S22A8_HUMAN sigcleave swissprot:S22A8_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S22A8_HUMAN ## Database ID URL or Descriptions # AltName SO2A1_HUMAN Prostaglandin transporter # AltName SO2A1_HUMAN Solute carrier family 21 member 2 # CDD cd06174 MFS # ChiTaRS SLCO2A1 human # DISEASE SO2A1_HUMAN Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 (PHOAR2) [MIM 614441] A disease characterized by digital clubbing, periostosis, acroosteolysis, painful joint enlargement, and variable features of pachydermia that include thickened facial skin and a thickened scalp. Other developmental anomalies include delayed closure of the cranial sutures and congenital heart disease. {ECO 0000269|PubMed 22197487, ECO 0000269|PubMed 22331663, ECO 0000269|PubMed 22553128, ECO 0000269|PubMed 22696055}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DrugBank DB00119 Pyruvic acid # DrugBank DB00695 Furosemide # DrugBank DB00770 Alprostadil # DrugBank DB00917 Dinoprostone # DrugBank DB01088 Iloprost # DrugBank DB01160 Dinoprost Tromethamine # DrugBank DB01174 Phenobarbital # DrugBank DB04398 Lactic Acid # Ensembl ENST00000310926 ENSP00000311291; ENSG00000174640 # ExpressionAtlas Q92959 baseline and differential # FUNCTION SO2A1_HUMAN May mediate the release of newly synthesized prostaglandins from cells, the transepithelial transport of prostaglandins, and the clearance of prostaglandins from the circulation. Transports PGD2, as well as PGE1, PGE2 and PGF2A. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0016020 membrane; TAS:ProtInc. # GO_function GO:0005319 lipid transporter activity; TAS:ProtInc. # GO_function GO:0015132 prostaglandin transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015347 sodium-independent organic anion transmembrane transporter activity; IBA:GO_Central. # GO_process GO:0006869 lipid transport; TAS:ProtInc. # GO_process GO:0043252 sodium-independent organic anion transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # Genevisible Q92959 HS # HGNC HGNC:10955 SLCO2A1 # InterPro IPR002350 Kazal_dom # InterPro IPR004156 OA_transporter # InterPro IPR020846 MFS_dom # KEGG_Brite ko02001 Solute carrier family # MIM 601460 gene # MIM 614441 phenotype # Organism SO2A1_HUMAN Homo sapiens (Human) # Orphanet 2796 Pachydermoperiostosis # PANTHER PTHR11388 PTHR11388 # PDB 3MRR X-ray; 1.60 A; P=178-187 # PROSITE PS50850 MFS # PROSITE PS51465 KAZAL_2 # Pfam PF03137 OATP # Pfam PF07648 Kazal_2 # Proteomes UP000005640 Chromosome 3 # Reactome R-HSA-879518 Transport of organic anions # RecName SO2A1_HUMAN Solute carrier organic anion transporter family member 2A1 # RefSeq NP_005621 NM_005630.2 # SIMILARITY Belongs to the organo anion transporter (TC 2.A.60) family. {ECO 0000305}. # SIMILARITY Contains 1 Kazal-like domain. {ECO:0000255|PROSITE- ProRule PRU00798}. # SUBCELLULAR LOCATION SO2A1_HUMAN Cell membrane; Multi-pass membrane protein. # SUPFAM SSF103473 SSF103473; 4 # TCDB 2.A.60.1.19 the organo anion transporter (oat) family # TIGRFAMs TIGR00805 oat # TISSUE SPECIFICITY Ubiquitous. Significant expression observed in ling, kidney, spleen, and heart. {ECO:0000269|PubMed 22331663}. # UCSC uc003eqa human # WEB RESOURCE SO2A1_HUMAN Name=Solute carrier organic anion transporter family, member 2A1 (SLCO2A1); Note=Leiden Open Variation Database (LOVD); URL="http //www.lovd.nl/SLCO2A1"; # eggNOG ENOG410XRSF LUCA # eggNOG KOG3626 Eukaryota BLAST swissprot:SO2A1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SO2A1_HUMAN BioCyc ZFISH:ENSG00000174640-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000174640-MONOMER COXPRESdb 6578 http://coxpresdb.jp/data/gene/6578.shtml CleanEx HS_SLCO2A1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLCO2A1 DOI 10.1002/humu.22042 http://dx.doi.org/10.1002/humu.22042 DOI 10.1002/humu.22111 http://dx.doi.org/10.1002/humu.22111 DOI 10.1006/bbrc.1998.8715 http://dx.doi.org/10.1006/bbrc.1998.8715 DOI 10.1016/j.ajhg.2011.11.019 http://dx.doi.org/10.1016/j.ajhg.2011.11.019 DOI 10.1038/jid.2012.146 http://dx.doi.org/10.1038/jid.2012.146 DOI 10.1073/pnas.1210303109 http://dx.doi.org/10.1073/pnas.1210303109 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1172/JCI118897 http://dx.doi.org/10.1172/JCI118897 DrugBank DB00119 http://www.drugbank.ca/drugs/DB00119 DrugBank DB00695 http://www.drugbank.ca/drugs/DB00695 DrugBank DB00770 http://www.drugbank.ca/drugs/DB00770 DrugBank DB00917 http://www.drugbank.ca/drugs/DB00917 DrugBank DB01088 http://www.drugbank.ca/drugs/DB01088 DrugBank DB01160 http://www.drugbank.ca/drugs/DB01160 DrugBank DB01174 http://www.drugbank.ca/drugs/DB01174 DrugBank DB04398 http://www.drugbank.ca/drugs/DB04398 EMBL AF056719 http://www.ebi.ac.uk/ena/data/view/AF056719 EMBL AF056720 http://www.ebi.ac.uk/ena/data/view/AF056720 EMBL AF056721 http://www.ebi.ac.uk/ena/data/view/AF056721 EMBL AF056722 http://www.ebi.ac.uk/ena/data/view/AF056722 EMBL AF056723 http://www.ebi.ac.uk/ena/data/view/AF056723 EMBL AF056724 http://www.ebi.ac.uk/ena/data/view/AF056724 EMBL AF056725 http://www.ebi.ac.uk/ena/data/view/AF056725 EMBL AF056726 http://www.ebi.ac.uk/ena/data/view/AF056726 EMBL AF056727 http://www.ebi.ac.uk/ena/data/view/AF056727 EMBL AF056728 http://www.ebi.ac.uk/ena/data/view/AF056728 EMBL AF056729 http://www.ebi.ac.uk/ena/data/view/AF056729 EMBL AF056730 http://www.ebi.ac.uk/ena/data/view/AF056730 EMBL AF056731 http://www.ebi.ac.uk/ena/data/view/AF056731 EMBL AF056732 http://www.ebi.ac.uk/ena/data/view/AF056732 EMBL BC041140 http://www.ebi.ac.uk/ena/data/view/BC041140 EMBL BC051347 http://www.ebi.ac.uk/ena/data/view/BC051347 EMBL CH471052 http://www.ebi.ac.uk/ena/data/view/CH471052 EMBL U70867 http://www.ebi.ac.uk/ena/data/view/U70867 Ensembl ENST00000310926 http://www.ensembl.org/id/ENST00000310926 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_function GO:0005319 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005319 GO_function GO:0015132 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015132 GO_function GO:0015347 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015347 GO_process GO:0006869 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006869 GO_process GO:0043252 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043252 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GeneCards SLCO2A1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLCO2A1 GeneID 6578 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6578 GeneTree ENSGT00760000119014 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119014 H-InvDB HIX0024333 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0024333 HGNC HGNC:10955 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10955 HOGENOM HOG000231269 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231269&db=HOGENOM6 HOVERGEN HBG108345 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG108345&db=HOVERGEN HPA HPA013742 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA013742 InParanoid Q92959 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q92959 IntAct Q92959 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q92959* InterPro IPR002350 http://www.ebi.ac.uk/interpro/entry/IPR002350 InterPro IPR004156 http://www.ebi.ac.uk/interpro/entry/IPR004156 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 6578 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6578 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:6578 http://www.genome.jp/dbget-bin/www_bget?hsa:6578 KEGG_Orthology KO:K14345 http://www.genome.jp/dbget-bin/www_bget?KO:K14345 MIM 601460 http://www.ncbi.nlm.nih.gov/omim/601460 MIM 614441 http://www.ncbi.nlm.nih.gov/omim/614441 OMA IYLNCSC http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=IYLNCSC Orphanet 2796 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=2796 OrthoDB EOG091G08QD http://cegg.unige.ch/orthodb/results?searchtext=EOG091G08QD PANTHER PTHR11388 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11388 PDB 3MRR http://www.ebi.ac.uk/pdbe-srv/view/entry/3MRR PDBsum 3MRR http://www.ebi.ac.uk/pdbsum/3MRR PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PROSITE PS51465 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51465 PSORT swissprot:SO2A1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SO2A1_HUMAN PSORT-B swissprot:SO2A1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SO2A1_HUMAN PSORT2 swissprot:SO2A1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SO2A1_HUMAN Pfam PF03137 http://pfam.xfam.org/family/PF03137 Pfam PF07648 http://pfam.xfam.org/family/PF07648 PharmGKB PA35840 http://www.pharmgkb.org/do/serve?objId=PA35840&objCls=Gene Phobius swissprot:SO2A1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SO2A1_HUMAN PhylomeDB Q92959 http://phylomedb.org/?seqid=Q92959 ProteinModelPortal Q92959 http://www.proteinmodelportal.org/query/uniprot/Q92959 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 22197487 http://www.ncbi.nlm.nih.gov/pubmed/22197487 PubMed 22331663 http://www.ncbi.nlm.nih.gov/pubmed/22331663 PubMed 22553128 http://www.ncbi.nlm.nih.gov/pubmed/22553128 PubMed 22696055 http://www.ncbi.nlm.nih.gov/pubmed/22696055 PubMed 22814378 http://www.ncbi.nlm.nih.gov/pubmed/22814378 PubMed 8787677 http://www.ncbi.nlm.nih.gov/pubmed/8787677 PubMed 9618293 http://www.ncbi.nlm.nih.gov/pubmed/9618293 Reactome R-HSA-879518 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-879518 RefSeq NP_005621 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_005621 SMR Q92959 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q92959 STRING 9606.ENSP00000311291 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000311291&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.60.1.19 http://www.tcdb.org/search/result.php?tc=2.A.60.1.19 TIGRFAMs TIGR00805 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00805 UCSC uc003eqa http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003eqa&org=rat UniGene Hs.518270 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.518270 UniProtKB SO2A1_HUMAN http://www.uniprot.org/uniprot/SO2A1_HUMAN UniProtKB-AC Q92959 http://www.uniprot.org/uniprot/Q92959 charge swissprot:SO2A1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SO2A1_HUMAN eggNOG ENOG410XRSF http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XRSF eggNOG KOG3626 http://eggnogapi.embl.de/nog_data/html/tree/KOG3626 epestfind swissprot:SO2A1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SO2A1_HUMAN garnier swissprot:SO2A1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SO2A1_HUMAN helixturnhelix swissprot:SO2A1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SO2A1_HUMAN hmoment swissprot:SO2A1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SO2A1_HUMAN iep swissprot:SO2A1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SO2A1_HUMAN inforesidue swissprot:SO2A1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SO2A1_HUMAN neXtProt NX_Q92959 http://www.nextprot.org/db/entry/NX_Q92959 octanol swissprot:SO2A1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SO2A1_HUMAN pepcoil swissprot:SO2A1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SO2A1_HUMAN pepdigest swissprot:SO2A1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SO2A1_HUMAN pepinfo swissprot:SO2A1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SO2A1_HUMAN pepnet swissprot:SO2A1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SO2A1_HUMAN pepstats swissprot:SO2A1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SO2A1_HUMAN pepwheel swissprot:SO2A1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SO2A1_HUMAN pepwindow swissprot:SO2A1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SO2A1_HUMAN sigcleave swissprot:SO2A1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SO2A1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S35B4_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q969S0-1; Sequence=Displayed; Name=2; IsoId=Q969S0-2; Sequence=VSP_016197, VSP_016198; Name=3; IsoId=Q969S0-3; Sequence=VSP_016199, VSP_016200; Note=No experimental confirmation available.; # AltName S35B4_HUMAN Solute carrier family 35 member B4 # AltName S35B4_HUMAN YEA4 homolog # BioGrid 124349 3 # CCDS CCDS34756 -. [Q969S0-1] # ChiTaRS SLC35B4 human # Ensembl ENST00000378509 ENSP00000367770; ENSG00000205060. [Q969S0-1] # Ensembl ENST00000470969 ENSP00000485857; ENSG00000205060. [Q969S0-2] # ExpressionAtlas Q969S0 baseline and differential # FUNCTION S35B4_HUMAN Sugar transporter that specifically mediates the transport of UDP-xylose (UDP-Xyl) and UDP-N-acetylglucosamine (UDP-GlcNAc) from cytosol into Golgi. {ECO 0000269|PubMed 15911612}. # GO_component GO:0000139 Golgi membrane; TAS:Reactome. # GO_component GO:0005783 endoplasmic reticulum; IDA:CACAO. # GO_component GO:0005794 Golgi apparatus; IDA:UniProtKB. # GO_component GO:0030173 integral component of Golgi membrane; IBA:GO_Central. # GO_component GO:0030176 integral component of endoplasmic reticulum membrane; IBA:GO_Central. # GO_function GO:0005457 GDP-fucose transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0005462 UDP-N-acetylglucosamine transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0005464 UDP-xylose transmembrane transporter activity; IDA:UniProtKB. # GO_process GO:0006111 regulation of gluconeogenesis; IEA:Ensembl. # GO_process GO:0008643 carbohydrate transport; IEA:UniProtKB-KW. # GO_process GO:0015783 GDP-fucose transport; IBA:GO_Central. # GO_process GO:0015788 UDP-N-acetylglucosamine transport; IDA:UniProtKB. # GO_process GO:0015790 UDP-xylose transport; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_component GO:0005794 Golgi apparatus # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # Genevisible Q969S0 HS # HGNC HGNC:20584 SLC35B4 # INTERACTION S35B4_HUMAN Q96BA8 CREB3L1; NbExp=3; IntAct=EBI-10281213, EBI-6942903; # IntAct Q969S0 3 # InterPro IPR013657 UAA # KEGG_Brite ko02001 Solute carrier family # MIM 610923 gene # Organism S35B4_HUMAN Homo sapiens (Human) # Pfam PF08449 UAA # Proteomes UP000005640 Chromosome 7 # Reactome R-HSA-727802 Transport of nucleotide sugars # RecName S35B4_HUMAN UDP-xylose and UDP-N-acetylglucosamine transporter # RefSeq NP_116215 NM_032826.4. [Q969S0-1] # SEQUENCE CAUTION Sequence=BAB55325.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the nucleotide-sugar transporter family. SLC35B subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION S35B4_HUMAN Golgi apparatus membrane {ECO 0000269|PubMed 15911612}; Multi-pass membrane protein {ECO 0000269|PubMed 15911612}. # TCDB 2.A.7.10 the drug/metabolite transporter (dmt) superfamily # UCSC uc003vrn human. [Q969S0-1] # eggNOG ENOG410XQ16 LUCA # eggNOG KOG1583 Eukaryota BLAST swissprot:S35B4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S35B4_HUMAN BioCyc ZFISH:G66-33036-MONOMER http://biocyc.org/getid?id=ZFISH:G66-33036-MONOMER COXPRESdb 84912 http://coxpresdb.jp/data/gene/84912.shtml CleanEx HS_SLC35B4 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC35B4 DOI 10.1038/nature01782 http://dx.doi.org/10.1038/nature01782 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.M504783200 http://dx.doi.org/10.1074/jbc.M504783200 DOI 10.1093/dnares/12.2.117 http://dx.doi.org/10.1093/dnares/12.2.117 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1083423 http://dx.doi.org/10.1126/science.1083423 EMBL AB052892 http://www.ebi.ac.uk/ena/data/view/AB052892 EMBL AC008154 http://www.ebi.ac.uk/ena/data/view/AC008154 EMBL AJ315497 http://www.ebi.ac.uk/ena/data/view/AJ315497 EMBL AJ315498 http://www.ebi.ac.uk/ena/data/view/AJ315498 EMBL AJ971941 http://www.ebi.ac.uk/ena/data/view/AJ971941 EMBL AK027603 http://www.ebi.ac.uk/ena/data/view/AK027603 EMBL AK027726 http://www.ebi.ac.uk/ena/data/view/AK027726 EMBL AK075368 http://www.ebi.ac.uk/ena/data/view/AK075368 EMBL AK222874 http://www.ebi.ac.uk/ena/data/view/AK222874 EMBL BC008413 http://www.ebi.ac.uk/ena/data/view/BC008413 EMBL CH236950 http://www.ebi.ac.uk/ena/data/view/CH236950 EMBL CH471070 http://www.ebi.ac.uk/ena/data/view/CH471070 Ensembl ENST00000378509 http://www.ensembl.org/id/ENST00000378509 Ensembl ENST00000470969 http://www.ensembl.org/id/ENST00000470969 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000139 GO_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GO_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GO_component GO:0030173 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030173 GO_component GO:0030176 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030176 GO_function GO:0005457 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005457 GO_function GO:0005462 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005462 GO_function GO:0005464 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005464 GO_process GO:0006111 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006111 GO_process GO:0008643 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008643 GO_process GO:0015783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015783 GO_process GO:0015788 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015788 GO_process GO:0015790 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015790 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GeneCards SLC35B4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC35B4 GeneID 84912 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=84912 GeneTree ENSGT00390000002915 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000002915 HGNC HGNC:20584 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:20584 HOGENOM HOG000234632 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000234632&db=HOGENOM6 HOVERGEN HBG093926 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG093926&db=HOVERGEN HPA HPA049779 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA049779 InParanoid Q969S0 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q969S0 IntAct Q969S0 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q969S0* InterPro IPR013657 http://www.ebi.ac.uk/interpro/entry/IPR013657 Jabion 84912 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=84912 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:84912 http://www.genome.jp/dbget-bin/www_bget?hsa:84912 KEGG_Orthology KO:K15278 http://www.genome.jp/dbget-bin/www_bget?KO:K15278 MIM 610923 http://www.ncbi.nlm.nih.gov/omim/610923 OMA IRYYAVM http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=IRYYAVM OrthoDB EOG091G0DEX http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0DEX PSORT swissprot:S35B4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S35B4_HUMAN PSORT-B swissprot:S35B4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S35B4_HUMAN PSORT2 swissprot:S35B4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S35B4_HUMAN Pfam PF08449 http://pfam.xfam.org/family/PF08449 PharmGKB PA134922110 http://www.pharmgkb.org/do/serve?objId=PA134922110&objCls=Gene Phobius swissprot:S35B4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S35B4_HUMAN PhylomeDB Q969S0 http://phylomedb.org/?seqid=Q969S0 ProteinModelPortal Q969S0 http://www.proteinmodelportal.org/query/uniprot/Q969S0 PubMed 12690205 http://www.ncbi.nlm.nih.gov/pubmed/12690205 PubMed 12853948 http://www.ncbi.nlm.nih.gov/pubmed/12853948 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15911612 http://www.ncbi.nlm.nih.gov/pubmed/15911612 PubMed 16303743 http://www.ncbi.nlm.nih.gov/pubmed/16303743 Reactome R-HSA-727802 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-727802 RefSeq NP_116215 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_116215 STRING 9606.ENSP00000367770 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000367770&targetmode=cogs TCDB 2.A.7.10 http://www.tcdb.org/search/result.php?tc=2.A.7.10 UCSC uc003vrn http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003vrn&org=rat UniGene Hs.490181 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.490181 UniProtKB S35B4_HUMAN http://www.uniprot.org/uniprot/S35B4_HUMAN UniProtKB-AC Q969S0 http://www.uniprot.org/uniprot/Q969S0 charge swissprot:S35B4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S35B4_HUMAN eggNOG ENOG410XQ16 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XQ16 eggNOG KOG1583 http://eggnogapi.embl.de/nog_data/html/tree/KOG1583 epestfind swissprot:S35B4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S35B4_HUMAN garnier swissprot:S35B4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S35B4_HUMAN helixturnhelix swissprot:S35B4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S35B4_HUMAN hmoment swissprot:S35B4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S35B4_HUMAN iep swissprot:S35B4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S35B4_HUMAN inforesidue swissprot:S35B4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S35B4_HUMAN neXtProt NX_Q969S0 http://www.nextprot.org/db/entry/NX_Q969S0 octanol swissprot:S35B4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S35B4_HUMAN pepcoil swissprot:S35B4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S35B4_HUMAN pepdigest swissprot:S35B4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S35B4_HUMAN pepinfo swissprot:S35B4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S35B4_HUMAN pepnet swissprot:S35B4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S35B4_HUMAN pepstats swissprot:S35B4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S35B4_HUMAN pepwheel swissprot:S35B4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S35B4_HUMAN pepwindow swissprot:S35B4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S35B4_HUMAN sigcleave swissprot:S35B4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S35B4_HUMAN ## Database ID URL or Descriptions # AltName NMUR2_HUMAN G-protein coupled receptor FM-4 # AltName NMUR2_HUMAN G-protein coupled receptor TGR-1 # BioGrid 121250 25 # CAUTION It is uncertain whether Met-1 or Met-4 is the initiator. {ECO 0000305}. # Ensembl ENST00000255262 ENSP00000255262; ENSG00000132911 # FUNCTION NMUR2_HUMAN Receptor for the neuromedin-U and neuromedin-S neuropeptides. {ECO 0000250, ECO 0000269|PubMed 10899166}. # GO_component GO:0005622 intracellular; IEA:GOC. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0016021 integral component of membrane; IDA:UniProtKB. # GO_function GO:0001607 neuromedin U receptor activity; IDA:UniProtKB. # GO_function GO:0004930 G-protein coupled receptor activity; TAS:ProtInc. # GO_function GO:0005229 intracellular calcium activated chloride channel activity; IDA:UniProtKB. # GO_function GO:0005525 GTP binding; IDA:UniProtKB. # GO_function GO:0042924 neuromedin U binding; IDA:UniProtKB. # GO_process GO:0002023 reduction of food intake in response to dietary excess; IEA:Ensembl. # GO_process GO:0006816 calcium ion transport; IDA:UniProtKB. # GO_process GO:0006940 regulation of smooth muscle contraction; NAS:UniProtKB. # GO_process GO:0007200 phospholipase C-activating G-protein coupled receptor signaling pathway; IDA:UniProtKB. # GO_process GO:0007204 positive regulation of cytosolic calcium ion concentration; IDA:UniProtKB. # GO_process GO:0007218 neuropeptide signaling pathway; TAS:ProtInc. # GO_process GO:0007267 cell-cell signaling; TAS:ProtInc. # GO_process GO:0007417 central nervous system development; IEP:UniProtKB. # GO_process GO:0007625 grooming behavior; IEA:Ensembl. # GO_process GO:0007631 feeding behavior; TAS:ProtInc. # GO_process GO:0019722 calcium-mediated signaling; NAS:UniProtKB. # GO_process GO:0043006 activation of phospholipase A2 activity by calcium-mediated signaling; IDA:UniProtKB. # GO_process GO:0048016 inositol phosphate-mediated signaling; IDA:UniProtKB. # GO_process GO:0048265 response to pain; IEA:Ensembl. # GO_process GO:0050482 arachidonic acid secretion; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005622 intracellular # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0048856 anatomical structure development # Genevisible Q9GZQ4 HS # HGNC HGNC:16454 NMUR2 # INTERACTION NMUR2_HUMAN Q6UY14-3 ADAMTSL4; NbExp=3; IntAct=EBI-10303844, EBI-10173507; P15884 TCF4; NbExp=3; IntAct=EBI-10303844, EBI-533224; Q12933 TRAF2; NbExp=3; IntAct=EBI-10303844, EBI-355744; # IntAct Q9GZQ4 4 # InterPro IPR000276 GPCR_Rhodpsn # InterPro IPR005390 NeuromedU_rcpt # InterPro IPR005392 NeuromedU_rcpt_2 # InterPro IPR017452 GPCR_Rhodpsn_7TM # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04030 G protein-coupled receptors # KEGG_Pathway ko04080 Neuroactive ligand-receptor interaction # MIM 605108 gene # Organism NMUR2_HUMAN Homo sapiens (Human) # PRINTS PR00237 GPCRRHODOPSN # PRINTS PR01565 NEUROMEDINUR # PRINTS PR01567 NEUROMEDNU2R # PROSITE PS00237 G_PROTEIN_RECEP_F1_1 # PROSITE PS50262 G_PROTEIN_RECEP_F1_2 # Pfam PF00001 7tm_1 # Proteomes UP000005640 Chromosome 5 # Reactome R-HSA-375276 Peptide ligand-binding receptors # Reactome R-HSA-416476 G alpha (q) signalling events # Reactome R-HSA-418594 G alpha (i) signalling events # RecName NMUR2_HUMAN Neuromedin-U receptor 2 # RefSeq NP_064552 NM_020167.4 # SEQUENCE CAUTION Sequence=BAB13721.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the G-protein coupled receptor 1 family. {ECO:0000255|PROSITE-ProRule PRU00521}. # SMART SM01381 7TM_GPCR_Srsx # SUBCELLULAR LOCATION NMUR2_HUMAN Cell membrane; Multi-pass membrane protein. # TISSUE SPECIFICITY NMUR2_HUMAN Predominantly expressed in the CNS, particularly in the medulla oblongata, pontine reticular formation, spinal cord, and thalamus. High level in testis whereas lower levels are present in a variety of peripheral tissues including the gastrointestinal tract, genitourinary tract, liver, pancreas, adrenal gland, thyroid gland, lung, trachea, spleen and thymus. {ECO 0000269|PubMed 10887190, ECO 0000269|PubMed 10894543, ECO 0000269|PubMed 10899166, ECO 0000269|PubMed 11010960}. # UCSC uc003luv human # eggNOG ENOG410XRW9 LUCA # eggNOG KOG3656 Eukaryota BLAST swissprot:NMUR2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:NMUR2_HUMAN COXPRESdb 56923 http://coxpresdb.jp/data/gene/56923.shtml CleanEx HS_NMUR2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_NMUR2 DOI 10.1038/35017610 http://dx.doi.org/10.1038/35017610 DOI 10.1038/nature02919 http://dx.doi.org/10.1038/nature02919 DOI 10.1074/jbc.C000522200 http://dx.doi.org/10.1074/jbc.C000522200 DOI 10.1074/jbc.M004261200 http://dx.doi.org/10.1074/jbc.M004261200 DOI 10.1074/jbc.M004613200 http://dx.doi.org/10.1074/jbc.M004613200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AB041228 http://www.ebi.ac.uk/ena/data/view/AB041228 EMBL AC008571 http://www.ebi.ac.uk/ena/data/view/AC008571 EMBL AF242874 http://www.ebi.ac.uk/ena/data/view/AF242874 EMBL AF272363 http://www.ebi.ac.uk/ena/data/view/AF272363 EMBL AF292402 http://www.ebi.ac.uk/ena/data/view/AF292402 EMBL BC016938 http://www.ebi.ac.uk/ena/data/view/BC016938 EMBL BC067776 http://www.ebi.ac.uk/ena/data/view/BC067776 Ensembl ENST00000255262 http://www.ensembl.org/id/ENST00000255262 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005622 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005622 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0001607 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001607 GO_function GO:0004930 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004930 GO_function GO:0005229 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005229 GO_function GO:0005525 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005525 GO_function GO:0042924 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042924 GO_process GO:0002023 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002023 GO_process GO:0006816 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006816 GO_process GO:0006940 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006940 GO_process GO:0007200 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007200 GO_process GO:0007204 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007204 GO_process GO:0007218 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007218 GO_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GO_process GO:0007417 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007417 GO_process GO:0007625 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007625 GO_process GO:0007631 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007631 GO_process GO:0019722 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019722 GO_process GO:0043006 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043006 GO_process GO:0048016 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048016 GO_process GO:0048265 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048265 GO_process GO:0050482 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050482 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005622 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005622 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GeneCards NMUR2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=NMUR2 GeneID 56923 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=56923 GeneTree ENSGT00700000104070 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00700000104070 H-InvDB HIX0005335 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0005335 HGNC HGNC:16454 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:16454 HOGENOM HOG000113804 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000113804&db=HOGENOM6 HOVERGEN HBG103506 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG103506&db=HOVERGEN HPA HPA045836 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA045836 InParanoid Q9GZQ4 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9GZQ4 IntAct Q9GZQ4 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9GZQ4* InterPro IPR000276 http://www.ebi.ac.uk/interpro/entry/IPR000276 InterPro IPR005390 http://www.ebi.ac.uk/interpro/entry/IPR005390 InterPro IPR005392 http://www.ebi.ac.uk/interpro/entry/IPR005392 InterPro IPR017452 http://www.ebi.ac.uk/interpro/entry/IPR017452 Jabion 56923 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=56923 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04030 http://www.genome.jp/dbget-bin/www_bget?ko04030 KEGG_Gene hsa:56923 http://www.genome.jp/dbget-bin/www_bget?hsa:56923 KEGG_Orthology KO:K05053 http://www.genome.jp/dbget-bin/www_bget?KO:K05053 KEGG_Pathway ko04080 http://www.genome.jp/kegg-bin/show_pathway?ko04080 MIM 605108 http://www.ncbi.nlm.nih.gov/omim/605108 OMA HYFPNGS http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=HYFPNGS OrthoDB EOG091G0ZDG http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0ZDG PRINTS PR00237 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00237 PRINTS PR01565 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01565 PRINTS PR01567 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01567 PROSITE PS00237 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00237 PROSITE PS50262 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50262 PSORT swissprot:NMUR2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:NMUR2_HUMAN PSORT-B swissprot:NMUR2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:NMUR2_HUMAN PSORT2 swissprot:NMUR2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:NMUR2_HUMAN Pfam PF00001 http://pfam.xfam.org/family/PF00001 PharmGKB PA31664 http://www.pharmgkb.org/do/serve?objId=PA31664&objCls=Gene Phobius swissprot:NMUR2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:NMUR2_HUMAN PhylomeDB Q9GZQ4 http://phylomedb.org/?seqid=Q9GZQ4 ProteinModelPortal Q9GZQ4 http://www.proteinmodelportal.org/query/uniprot/Q9GZQ4 PubMed 10887190 http://www.ncbi.nlm.nih.gov/pubmed/10887190 PubMed 10894543 http://www.ncbi.nlm.nih.gov/pubmed/10894543 PubMed 10899166 http://www.ncbi.nlm.nih.gov/pubmed/10899166 PubMed 11010960 http://www.ncbi.nlm.nih.gov/pubmed/11010960 PubMed 15372022 http://www.ncbi.nlm.nih.gov/pubmed/15372022 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 Reactome R-HSA-375276 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-375276 Reactome R-HSA-416476 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-416476 Reactome R-HSA-418594 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-418594 RefSeq NP_064552 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_064552 SMART SM01381 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM01381 SMR Q9GZQ4 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9GZQ4 STRING 9606.ENSP00000255262 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000255262&targetmode=cogs UCSC uc003luv http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003luv&org=rat UniGene Hs.731911 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.731911 UniProtKB NMUR2_HUMAN http://www.uniprot.org/uniprot/NMUR2_HUMAN UniProtKB-AC Q9GZQ4 http://www.uniprot.org/uniprot/Q9GZQ4 charge swissprot:NMUR2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:NMUR2_HUMAN eggNOG ENOG410XRW9 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XRW9 eggNOG KOG3656 http://eggnogapi.embl.de/nog_data/html/tree/KOG3656 epestfind swissprot:NMUR2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:NMUR2_HUMAN garnier swissprot:NMUR2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:NMUR2_HUMAN helixturnhelix swissprot:NMUR2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:NMUR2_HUMAN hmoment swissprot:NMUR2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:NMUR2_HUMAN iep swissprot:NMUR2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:NMUR2_HUMAN inforesidue swissprot:NMUR2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:NMUR2_HUMAN neXtProt NX_Q9GZQ4 http://www.nextprot.org/db/entry/NX_Q9GZQ4 octanol swissprot:NMUR2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:NMUR2_HUMAN pepcoil swissprot:NMUR2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:NMUR2_HUMAN pepdigest swissprot:NMUR2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:NMUR2_HUMAN pepinfo swissprot:NMUR2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:NMUR2_HUMAN pepnet swissprot:NMUR2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:NMUR2_HUMAN pepstats swissprot:NMUR2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:NMUR2_HUMAN pepwheel swissprot:NMUR2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:NMUR2_HUMAN pepwindow swissprot:NMUR2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:NMUR2_HUMAN sigcleave swissprot:NMUR2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:NMUR2_HUMAN ## Database ID URL or Descriptions # AltName P2RX3_HUMAN ATP receptor # AltName P2RX3_HUMAN Purinergic receptor # ChiTaRS P2RX3 human # Ensembl ENST00000263314 ENSP00000263314; ENSG00000109991 # ExpressionAtlas P56373 baseline and differential # FUNCTION P2RX3_HUMAN Receptor for ATP that acts as a ligand-gated ion channel. # GO_component GO:0005639 integral component of nuclear inner membrane; IBA:GO_Central. # GO_component GO:0005791 rough endoplasmic reticulum; IEA:Ensembl. # GO_component GO:0005794 Golgi apparatus; IEA:Ensembl. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0043025 neuronal cell body; IEA:Ensembl. # GO_component GO:0043195 terminal bouton; IEA:Ensembl. # GO_component GO:0043197 dendritic spine; IEA:Ensembl. # GO_component GO:0043235 receptor complex; IDA:MGI. # GO_component GO:0045121 membrane raft; IEA:Ensembl. # GO_function GO:0001614 purinergic nucleotide receptor activity; NAS:BHF-UCL. # GO_function GO:0004931 extracellular ATP-gated cation channel activity; NAS:BHF-UCL. # GO_function GO:0005524 ATP binding; NAS:BHF-UCL. # GO_process GO:0001666 response to hypoxia; IEA:Ensembl. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0007165 signal transduction; TAS:ProtInc. # GO_process GO:0007274 neuromuscular synaptic transmission; IEA:Ensembl. # GO_process GO:0007596 blood coagulation; TAS:Reactome. # GO_process GO:0009408 response to heat; IEA:Ensembl. # GO_process GO:0009409 response to cold; IEA:Ensembl. # GO_process GO:0009612 response to mechanical stimulus; IEA:Ensembl. # GO_process GO:0009743 response to carbohydrate; IEA:Ensembl. # GO_process GO:0010524 positive regulation of calcium ion transport into cytosol; NAS:BHF-UCL. # GO_process GO:0014832 urinary bladder smooth muscle contraction; IEA:Ensembl. # GO_process GO:0019228 neuronal action potential; IEA:Ensembl. # GO_process GO:0030432 peristalsis; IEA:Ensembl. # GO_process GO:0033198 response to ATP; IEA:Ensembl. # GO_process GO:0048167 regulation of synaptic plasticity; IEA:Ensembl. # GO_process GO:0050850 positive regulation of calcium-mediated signaling; NAS:BHF-UCL. # GO_process GO:0050909 sensory perception of taste; IEA:Ensembl. # GO_process GO:0051260 protein homooligomerization; IEA:Ensembl. # GO_process GO:0061368 behavioral response to formalin induced pain; IEA:Ensembl. # GO_process GO:1904058 positive regulation of sensory perception of pain; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_component GO:0005794 Golgi apparatus # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # GOslim_process GO:0050877 neurological system process # Gene3D 2.60.490.10 -; 1. # Genevisible P56373 HS # HGNC HGNC:8534 P2RX3 # InterPro IPR001429 P2X_purnocptor # InterPro IPR003046 P2X3_purnocptor # InterPro IPR027309 P2X_extracellular_dom # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04020 Calcium signaling pathway # KEGG_Pathway ko04080 Neuroactive ligand-receptor interaction # MIM 600843 gene # Organism P2RX3_HUMAN Homo sapiens (Human) # PANTHER PTHR10125 PTHR10125 # PANTHER PTHR10125:SF8 PTHR10125:SF8 # PDB 5SVJ X-ray; 2.98 A; A=6-364 # PDB 5SVK X-ray; 2.77 A; A/B=6-364 # PDB 5SVL X-ray; 2.90 A; A/B=6-364 # PDB 5SVM X-ray; 3.09 A; A/B=6-364 # PDB 5SVP X-ray; 3.30 A; A/B=6-364 # PDB 5SVQ X-ray; 3.25 A; A=6-364 # PDB 5SVR X-ray; 3.13 A; A=6-364 # PDB 5SVS X-ray; 4.03 A; A=6-364 # PDB 5SVT X-ray; 3.79 A; A=6-364 # PIRSF PIRSF005713 P2X_purinoceptor # PRINTS PR01307 P2XRECEPTOR # PRINTS PR01310 P2X3RECEPTOR # PROSITE PS01212 P2X_RECEPTOR # Pfam PF00864 P2X_receptor # Proteomes UP000005640 Chromosome 11 # Reactome R-HSA-139853 Elevation of cytosolic Ca2+ levels # Reactome R-HSA-418346 Platelet homeostasis # RecName P2RX3_HUMAN P2X purinoceptor 3 # RefSeq NP_002550 NM_002559.3 # RefSeq XP_011543371 XM_011545069.2 # RefSeq XP_011543372 XM_011545070.2 # SIMILARITY Belongs to the P2X receptor family. {ECO 0000305}. # SUBCELLULAR LOCATION P2RX3_HUMAN Membrane; Multi-pass membrane protein. # SUBUNIT Functional P2XRs are organized as homomeric and heteromeric trimers. {ECO 0000250}. # TCDB 1.A.7.1 the atp-gated p2x receptor cation channel (p2x receptor) family # TIGRFAMs TIGR00863 P2X # UCSC uc001nju human # WEB RESOURCE P2RX3_HUMAN Name=Wikipedia; Note=P2X receptor entry; URL="https //en.wikipedia.org/wiki/P2X_receptor"; # eggNOG ENOG410IFJF Eukaryota # eggNOG ENOG410XR0C LUCA BLAST swissprot:P2RX3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:P2RX3_HUMAN BioCyc ZFISH:ENSG00000109991-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000109991-MONOMER COXPRESdb 5024 http://coxpresdb.jp/data/gene/5024.shtml CleanEx HS_P2RX3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_P2RX3 DOI 10.1038/nature04632 http://dx.doi.org/10.1038/nature04632 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AB016608 http://www.ebi.ac.uk/ena/data/view/AB016608 EMBL AP000781 http://www.ebi.ac.uk/ena/data/view/AP000781 EMBL BC074792 http://www.ebi.ac.uk/ena/data/view/BC074792 EMBL BC074793 http://www.ebi.ac.uk/ena/data/view/BC074793 EMBL BC109287 http://www.ebi.ac.uk/ena/data/view/BC109287 EMBL Y07683 http://www.ebi.ac.uk/ena/data/view/Y07683 Ensembl ENST00000263314 http://www.ensembl.org/id/ENST00000263314 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005639 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005639 GO_component GO:0005791 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005791 GO_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0043025 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043025 GO_component GO:0043195 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043195 GO_component GO:0043197 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043197 GO_component GO:0043235 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043235 GO_component GO:0045121 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045121 GO_function GO:0001614 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001614 GO_function GO:0004931 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004931 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_process GO:0001666 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001666 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GO_process GO:0007274 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007274 GO_process GO:0007596 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007596 GO_process GO:0009408 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009408 GO_process GO:0009409 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009409 GO_process GO:0009612 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009612 GO_process GO:0009743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009743 GO_process GO:0010524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010524 GO_process GO:0014832 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014832 GO_process GO:0019228 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019228 GO_process GO:0030432 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030432 GO_process GO:0033198 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033198 GO_process GO:0048167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048167 GO_process GO:0050850 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050850 GO_process GO:0050909 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050909 GO_process GO:0051260 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051260 GO_process GO:0061368 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061368 GO_process GO:1904058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1904058 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 Gene3D 2.60.490.10 http://www.cathdb.info/version/latest/superfamily/2.60.490.10 GeneCards P2RX3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=P2RX3 GeneID 5024 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=5024 GeneTree ENSGT00390000016028 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000016028 H-InvDB HIX0035814 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0035814 HGNC HGNC:8534 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:8534 HOGENOM HOG000232042 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000232042&db=HOGENOM6 HOVERGEN HBG053086 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG053086&db=HOVERGEN HPA HPA057776 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA057776 InParanoid P56373 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P56373 InterPro IPR001429 http://www.ebi.ac.uk/interpro/entry/IPR001429 InterPro IPR003046 http://www.ebi.ac.uk/interpro/entry/IPR003046 InterPro IPR027309 http://www.ebi.ac.uk/interpro/entry/IPR027309 Jabion 5024 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=5024 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:5024 http://www.genome.jp/dbget-bin/www_bget?hsa:5024 KEGG_Orthology KO:K05217 http://www.genome.jp/dbget-bin/www_bget?KO:K05217 KEGG_Pathway ko04020 http://www.genome.jp/kegg-bin/show_pathway?ko04020 KEGG_Pathway ko04080 http://www.genome.jp/kegg-bin/show_pathway?ko04080 MIM 600843 http://www.ncbi.nlm.nih.gov/omim/600843 OMA VLRTCEI http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=VLRTCEI OrthoDB EOG091G0A2U http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0A2U PANTHER PTHR10125 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10125 PANTHER PTHR10125:SF8 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10125:SF8 PDB 5SVJ http://www.ebi.ac.uk/pdbe-srv/view/entry/5SVJ PDB 5SVK http://www.ebi.ac.uk/pdbe-srv/view/entry/5SVK PDB 5SVL http://www.ebi.ac.uk/pdbe-srv/view/entry/5SVL PDB 5SVM http://www.ebi.ac.uk/pdbe-srv/view/entry/5SVM PDB 5SVP http://www.ebi.ac.uk/pdbe-srv/view/entry/5SVP PDB 5SVQ http://www.ebi.ac.uk/pdbe-srv/view/entry/5SVQ PDB 5SVR http://www.ebi.ac.uk/pdbe-srv/view/entry/5SVR PDB 5SVS http://www.ebi.ac.uk/pdbe-srv/view/entry/5SVS PDB 5SVT http://www.ebi.ac.uk/pdbe-srv/view/entry/5SVT PDBsum 5SVJ http://www.ebi.ac.uk/pdbsum/5SVJ PDBsum 5SVK http://www.ebi.ac.uk/pdbsum/5SVK PDBsum 5SVL http://www.ebi.ac.uk/pdbsum/5SVL PDBsum 5SVM http://www.ebi.ac.uk/pdbsum/5SVM PDBsum 5SVP http://www.ebi.ac.uk/pdbsum/5SVP PDBsum 5SVQ http://www.ebi.ac.uk/pdbsum/5SVQ PDBsum 5SVR http://www.ebi.ac.uk/pdbsum/5SVR PDBsum 5SVS http://www.ebi.ac.uk/pdbsum/5SVS PDBsum 5SVT http://www.ebi.ac.uk/pdbsum/5SVT PRINTS PR01307 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01307 PRINTS PR01310 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01310 PROSITE PS01212 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS01212 PSORT swissprot:P2RX3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:P2RX3_HUMAN PSORT-B swissprot:P2RX3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:P2RX3_HUMAN PSORT2 swissprot:P2RX3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:P2RX3_HUMAN Pfam PF00864 http://pfam.xfam.org/family/PF00864 PharmGKB PA32863 http://www.pharmgkb.org/do/serve?objId=PA32863&objCls=Gene Phobius swissprot:P2RX3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:P2RX3_HUMAN PhylomeDB P56373 http://phylomedb.org/?seqid=P56373 ProteinModelPortal P56373 http://www.proteinmodelportal.org/query/uniprot/P56373 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16554811 http://www.ncbi.nlm.nih.gov/pubmed/16554811 PubMed 9016352 http://www.ncbi.nlm.nih.gov/pubmed/9016352 Reactome R-HSA-139853 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-139853 Reactome R-HSA-418346 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-418346 RefSeq NP_002550 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_002550 RefSeq XP_011543371 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011543371 RefSeq XP_011543372 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011543372 SMR P56373 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P56373 STRING 9606.ENSP00000263314 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000263314&targetmode=cogs TCDB 1.A.7.1 http://www.tcdb.org/search/result.php?tc=1.A.7.1 TIGRFAMs TIGR00863 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00863 UCSC uc001nju http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001nju&org=rat UniGene Hs.146738 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.146738 UniProtKB P2RX3_HUMAN http://www.uniprot.org/uniprot/P2RX3_HUMAN UniProtKB-AC P56373 http://www.uniprot.org/uniprot/P56373 charge swissprot:P2RX3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:P2RX3_HUMAN eggNOG ENOG410IFJF http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IFJF eggNOG ENOG410XR0C http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XR0C epestfind swissprot:P2RX3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:P2RX3_HUMAN garnier swissprot:P2RX3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:P2RX3_HUMAN helixturnhelix swissprot:P2RX3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:P2RX3_HUMAN hmoment swissprot:P2RX3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:P2RX3_HUMAN iep swissprot:P2RX3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:P2RX3_HUMAN inforesidue swissprot:P2RX3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:P2RX3_HUMAN neXtProt NX_P56373 http://www.nextprot.org/db/entry/NX_P56373 octanol swissprot:P2RX3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:P2RX3_HUMAN pepcoil swissprot:P2RX3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:P2RX3_HUMAN pepdigest swissprot:P2RX3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:P2RX3_HUMAN pepinfo swissprot:P2RX3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:P2RX3_HUMAN pepnet swissprot:P2RX3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:P2RX3_HUMAN pepstats swissprot:P2RX3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:P2RX3_HUMAN pepwheel swissprot:P2RX3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:P2RX3_HUMAN pepwindow swissprot:P2RX3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:P2RX3_HUMAN sigcleave swissprot:P2RX3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:P2RX3_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS TRPV1_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8NER1-1; Sequence=Displayed; Name=2; IsoId=Q8NER1-3; Sequence=VSP_056862; # AltName TRPV1_HUMAN Capsaicin receptor # AltName TRPV1_HUMAN Osm-9-like TRP channel 1 # AltName TRPV1_HUMAN Vanilloid receptor 1 # BioGrid 113281 7 # CCDS CCDS45576 -. [Q8NER1-1] # DOMAIN TRPV1_HUMAN The association domain (AD) is necessary for self- association. {ECO 0000250}. # DrugBank DB00132 Alpha-Linolenic Acid # DrugBank DB00159 Icosapent # DrugBank DB00168 Aspartame # DrugBank DB06774 Capsaicin # ENZYME REGULATION Channel activity is activated via the interaction with PIRT and phosphatidylinositol 4,5-bisphosphate (PIP2). Both PIRT and PIP2 are required to activate channel activity (By similarity). The channel is sensitized by ATP binding. Repeated stimulation with capsaicin gives rise to progressively smaller responses, due to desensitization. This desensitization is triggered by the influx of calcium ions and is inhibited by elevated ATP levels. Ca(2+) and CALM displace ATP from its binding site and trigger a conformation change that leads to a closed, desensitized channel. Intracellular PIP2 inhibits desensitization. The double-knot toxin (DkTx) from the Chinese earth tiger tarantula activates the channel and traps it in an open conformation (By similarity). {ECO 0000250}. # Ensembl ENST00000399756 ENSP00000382659; ENSG00000196689. [Q8NER1-1] # Ensembl ENST00000399759 ENSP00000382661; ENSG00000196689. [Q8NER1-1] # Ensembl ENST00000571088 ENSP00000461007; ENSG00000196689. [Q8NER1-1] # Ensembl ENST00000572705 ENSP00000459962; ENSG00000196689. [Q8NER1-1] # ExpressionAtlas Q8NER1 baseline and differential # FUNCTION TRPV1_HUMAN Ligand-activated non-selective calcium permeant cation channel involved in detection of noxious chemical and thermal stimuli. Seems to mediate proton influx and may be involved in intracellular acidosis in nociceptive neurons. Involved in mediation of inflammatory pain and hyperalgesia. Sensitized by a phosphatidylinositol second messenger system activated by receptor tyrosine kinases, which involves PKC isozymes and PCL. Activation by vanilloids, like capsaicin, and temperatures higher than 42 degrees Celsius, exhibits a time- and Ca(2+)-dependent outward rectification, followed by a long-lasting refractory state. Mild extracellular acidic pH (6.5) potentiates channel activation by noxious heat and vanilloids, whereas acidic conditions (pH <6) directly activate the channel. Can be activated by endogenous compounds, including 12-hydroperoxytetraenoic acid and bradykinin. Acts as ionotropic endocannabinoid receptor with central neuromodulatory effects. Triggers a form of long-term depression (TRPV1-LTD) mediated by the endocannabinoid anandamine in the hippocampus and nucleus accumbens by affecting AMPA receptors endocytosis. {ECO 0000250|UniProtKB O35433, ECO 0000269|PubMed 11050376, ECO 0000269|PubMed 11226139, ECO 0000269|PubMed 11243859, ECO 0000269|PubMed 12077606}. # GO_component GO:0005829 cytosol; IEA:Ensembl. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; ISS:UniProtKB. # GO_component GO:0009897 external side of plasma membrane; IEA:Ensembl. # GO_component GO:0016021 integral component of membrane; IDA:MGI. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0030425 dendrite; IEA:Ensembl. # GO_component GO:0031226 intrinsic component of plasma membrane; ISS:UniProtKB. # GO_component GO:0032591 dendritic spine membrane; IEA:UniProtKB-SubCell. # GO_component GO:0043025 neuronal cell body; IEA:Ensembl. # GO_component GO:0045211 postsynaptic membrane; ISS:UniProtKB. # GO_function GO:0004888 transmembrane signaling receptor activity; ISS:UniProtKB. # GO_function GO:0005230 extracellular ligand-gated ion channel activity; IDA:UniProtKB. # GO_function GO:0005231 excitatory extracellular ligand-gated ion channel activity; ISS:UniProtKB. # GO_function GO:0005262 calcium channel activity; IBA:GO_Central. # GO_function GO:0005524 ATP binding; ISS:UniProtKB. # GO_function GO:0015278 calcium-release channel activity; ISS:UniProtKB. # GO_function GO:0017081 chloride channel regulator activity; IEA:Ensembl. # GO_function GO:0035091 phosphatidylinositol binding; ISS:UniProtKB. # GO_function GO:0046872 metal ion binding; IEA:UniProtKB-KW. # GO_function GO:0051219 phosphoprotein binding; IPI:UniProtKB. # GO_function GO:0097603 temperature-gated ion channel activity; IEA:Ensembl. # GO_process GO:0000122 negative regulation of transcription from RNA polymerase II promoter; IEA:Ensembl. # GO_process GO:0001660 fever generation; IEA:Ensembl. # GO_process GO:0001774 microglial cell activation; IEA:Ensembl. # GO_process GO:0002024 diet induced thermogenesis; IEA:Ensembl. # GO_process GO:0002790 peptide secretion; IEA:Ensembl. # GO_process GO:0006629 lipid metabolic process; IEA:Ensembl. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0007166 cell surface receptor signaling pathway; TAS:ProtInc. # GO_process GO:0007635 chemosensory behavior; TAS:ProtInc. # GO_process GO:0014047 glutamate secretion; IEA:Ensembl. # GO_process GO:0034605 cellular response to heat; IDA:UniProtKB. # GO_process GO:0043065 positive regulation of apoptotic process; IEA:Ensembl. # GO_process GO:0043434 response to peptide hormone; IEA:Ensembl. # GO_process GO:0045429 positive regulation of nitric oxide biosynthetic process; IEA:Ensembl. # GO_process GO:0048266 behavioral response to pain; IEA:Ensembl. # GO_process GO:0050954 sensory perception of mechanical stimulus; IEA:Ensembl. # GO_process GO:0050955 thermoception; IDA:MGI. # GO_process GO:0050960 detection of temperature stimulus involved in thermoception; IEA:Ensembl. # GO_process GO:0050965 detection of temperature stimulus involved in sensory perception of pain; IEA:Ensembl. # GO_process GO:0050968 detection of chemical stimulus involved in sensory perception of pain; IEA:Ensembl. # GO_process GO:0051289 protein homotetramerization; ISS:UniProtKB. # GO_process GO:0060083 smooth muscle contraction involved in micturition; IEA:Ensembl. # GO_process GO:0060454 positive regulation of gastric acid secretion; IEA:Ensembl. # GO_process GO:0070588 calcium ion transmembrane transport; ISS:UniProtKB. # GO_process GO:0071312 cellular response to alkaloid; ISS:UniProtKB. # GO_process GO:0071318 cellular response to ATP; ISS:UniProtKB. # GO_process GO:0071356 cellular response to tumor necrosis factor; IEA:Ensembl. # GO_process GO:0071468 cellular response to acidic pH; IDA:UniProtKB. # GO_process GO:0071502 cellular response to temperature stimulus; IEA:Ensembl. # GO_process GO:0090212 negative regulation of establishment of blood-brain barrier; IEA:Ensembl. # GO_process GO:1901594 response to capsazepine; IMP:UniProtKB. # GO_process GO:1990035 calcium ion import into cell; IDA:UniProtKB. # GO_process GO:1990090 cellular response to nerve growth factor stimulus; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005829 cytosol # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0008289 lipid binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0002376 immune system process # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006629 lipid metabolic process # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0050877 neurological system process # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.25.40.20 -; 2. # Genevisible Q8NER1 HS # HGNC HGNC:12716 TRPV1 # InterPro IPR002110 Ankyrin_rpt # InterPro IPR004729 TRP_channel # InterPro IPR005821 Ion_trans_dom # InterPro IPR008347 TRPV1-4_channel # InterPro IPR020683 Ankyrin_rpt-contain_dom # InterPro IPR024863 TRPV1_channel # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04080 Neuroactive ligand-receptor interaction # MIM 602076 gene # MISCELLANEOUS TRPV1_HUMAN Responses evoked by low pH and heat, and capsaicin can be antagonized by capsazepine. # Organism TRPV1_HUMAN Homo sapiens (Human) # PANTHER PTHR10582:SF17 PTHR10582:SF17; 2 # PIR JC7621 JC7621 # PRINTS PR01768 TRPVRECEPTOR # PROSITE PS50088 ANK_REPEAT # PROSITE PS50297 ANK_REP_REGION # PTM TRPV1_HUMAN Phosphorylation by PKA reverses capsaicin-induced dephosphorylation at multiple sites, probably including Ser-117 as a major phosphorylation site. Phosphorylation by CAMKII seems to regulate binding to vanilloids. Phosphorylated and modulated by PRKCE, PRKCM and probably PRKCZ. Dephosphorylation by calcineurin seems to lead to receptor desensitization and phosphorylation by CAMKII recovers activity. {ECO 0000250|UniProtKB O35433}. # Pfam PF00520 Ion_trans # Pfam PF12796 Ank_2 # Proteomes UP000005640 Chromosome 17 # Reactome R-HSA-3295583 TRP channels # RecName TRPV1_HUMAN Transient receptor potential cation channel subfamily V member 1 # RefSeq NP_061197 NM_018727.5. [Q8NER1-1] # RefSeq NP_542435 NM_080704.3. [Q8NER1-1] # RefSeq NP_542436 NM_080705.3. [Q8NER1-1] # RefSeq NP_542437 NM_080706.3. [Q8NER1-1] # SEQUENCE CAUTION Sequence=AAG43467.1; Type=Frameshift; Positions=498; Evidence={ECO 0000305}; # SIMILARITY Belongs to the transient receptor (TC 1.A.4) family. TrpV subfamily. TRPV1 sub-subfamily. {ECO 0000305}. # SIMILARITY Contains 6 ANK repeats. {ECO:0000255|PROSITE- ProRule PRU00023}. # SMART SM00248 ANK; 4 # SUBCELLULAR LOCATION TRPV1_HUMAN Cell junction, synapse, postsynaptic cell membrane {ECO 0000250|UniProtKB O35433}; Multi-pass membrane protein {ECO 0000250|UniProtKB O35433}. Cell projection, dendritic spine membrane {ECO 0000250|UniProtKB O35433}; Multi-pass membrane protein {ECO 0000250|UniProtKB O35433}. Cell membrane {ECO 0000269|PubMed 11050376, ECO 0000269|PubMed 11243859, ECO 0000269|PubMed 12077606}; Multi-pass membrane protein {ECO 0000250|UniProtKB O35433}. Note=Mostly, but not exclusively expressed in postsynaptic dendritic spines. {ECO 0000250|UniProtKB O35433}. # SUBUNIT TRPV1_HUMAN Interacts with PIRT (By similarity). Homotetramer (By similarity). Interacts with TRPV3 and may also form a heteromeric channel with TRPV3 (PubMed 12077606). Interacts with CALM, PRKCM and CSK. Interacts with PRKCG and NTRK1, probably by forming a trimeric complex (By similarity). Interacts with TMEM100 (By similarity). {ECO 0000250, ECO 0000250|UniProtKB Q704Y3, ECO 0000269|PubMed 12077606}. # SUPFAM SSF48403 SSF48403 # TCDB 1.A.4.2.13 the transient receptor potential ca(2+) channel (trp-cc) family # TIGRFAMs TIGR00870 trp # TISSUE SPECIFICITY TRPV1_HUMAN Widely expressed at low levels. Expression is elevated in dorsal root ganglia. In skin, expressed in cutaneous sensory nerve fibers, mast cells, epidermal keratinocytes, dermal blood vessels, the inner root sheet and the infundibulum of hair follicles, differentiated sebocytes, sweat gland ducts, and the secretory portion of eccrine sweat glands (at protein level). {ECO 0000269|PubMed 11050376, ECO 0000269|PubMed 11243859, ECO 0000269|PubMed 14987252}. # UCSC uc010vrr human. [Q8NER1-1] # WEB RESOURCE TRPV1_HUMAN Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http //atlasgeneticsoncology.org/Genes/TRPV1ID50368ch17p13.html"; # eggNOG ENOG4110DG4 LUCA # eggNOG KOG3676 Eukaryota BLAST swissprot:TRPV1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:TRPV1_HUMAN BioCyc ZFISH:G66-33720-MONOMER http://biocyc.org/getid?id=ZFISH:G66-33720-MONOMER COXPRESdb 7442 http://coxpresdb.jp/data/gene/7442.shtml CleanEx HS_TRPV1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_TRPV1 DOI 10.1006/bbrc.2001.4482 http://dx.doi.org/10.1006/bbrc.2001.4482 DOI 10.1016/S0304-3959(00)00353-5 http://dx.doi.org/10.1016/S0304-3959(00)00353-5 DOI 10.1038/nature00894 http://dx.doi.org/10.1038/nature00894 DOI 10.1038/nature04689 http://dx.doi.org/10.1038/nature04689 DOI 10.1038/sj.bjp.0703918 http://dx.doi.org/10.1038/sj.bjp.0703918 DOI 10.1074/jbc.M312577200 http://dx.doi.org/10.1074/jbc.M312577200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1101/gr.GR1547R http://dx.doi.org/10.1101/gr.GR1547R DOI 10.1111/j.0906-6705.2004.0178.x http://dx.doi.org/10.1111/j.0906-6705.2004.0178.x DrugBank DB00132 http://www.drugbank.ca/drugs/DB00132 DrugBank DB00159 http://www.drugbank.ca/drugs/DB00159 DrugBank DB00168 http://www.drugbank.ca/drugs/DB00168 DrugBank DB06774 http://www.drugbank.ca/drugs/DB06774 EMBL AC027796 http://www.ebi.ac.uk/ena/data/view/AC027796 EMBL AF196175 http://www.ebi.ac.uk/ena/data/view/AF196175 EMBL AF196176 http://www.ebi.ac.uk/ena/data/view/AF196176 EMBL AJ272063 http://www.ebi.ac.uk/ena/data/view/AJ272063 EMBL AJ277028 http://www.ebi.ac.uk/ena/data/view/AJ277028 EMBL AL136801 http://www.ebi.ac.uk/ena/data/view/AL136801 EMBL AY131289 http://www.ebi.ac.uk/ena/data/view/AY131289 EMBL BC132820 http://www.ebi.ac.uk/ena/data/view/BC132820 EMBL BC136633 http://www.ebi.ac.uk/ena/data/view/BC136633 EMBL CH471108 http://www.ebi.ac.uk/ena/data/view/CH471108 EMBL DQ177332 http://www.ebi.ac.uk/ena/data/view/DQ177332 Ensembl ENST00000399756 http://www.ensembl.org/id/ENST00000399756 Ensembl ENST00000399759 http://www.ensembl.org/id/ENST00000399759 Ensembl ENST00000571088 http://www.ensembl.org/id/ENST00000571088 Ensembl ENST00000572705 http://www.ensembl.org/id/ENST00000572705 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0009897 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009897 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0030425 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030425 GO_component GO:0031226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031226 GO_component GO:0032591 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032591 GO_component GO:0043025 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043025 GO_component GO:0045211 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045211 GO_function GO:0004888 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004888 GO_function GO:0005230 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005230 GO_function GO:0005231 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005231 GO_function GO:0005262 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005262 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0015278 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015278 GO_function GO:0017081 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0017081 GO_function GO:0035091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035091 GO_function GO:0046872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046872 GO_function GO:0051219 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051219 GO_function GO:0097603 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097603 GO_process GO:0000122 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000122 GO_process GO:0001660 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001660 GO_process GO:0001774 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001774 GO_process GO:0002024 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002024 GO_process GO:0002790 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002790 GO_process GO:0006629 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006629 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0007166 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007166 GO_process GO:0007635 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007635 GO_process GO:0014047 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014047 GO_process GO:0034605 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034605 GO_process GO:0043065 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043065 GO_process GO:0043434 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043434 GO_process GO:0045429 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045429 GO_process GO:0048266 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048266 GO_process GO:0050954 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050954 GO_process GO:0050955 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050955 GO_process GO:0050960 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050960 GO_process GO:0050965 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050965 GO_process GO:0050968 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050968 GO_process GO:0051289 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051289 GO_process GO:0060083 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060083 GO_process GO:0060454 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060454 GO_process GO:0070588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070588 GO_process GO:0071312 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071312 GO_process GO:0071318 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071318 GO_process GO:0071356 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071356 GO_process GO:0071468 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071468 GO_process GO:0071502 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071502 GO_process GO:0090212 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090212 GO_process GO:1901594 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1901594 GO_process GO:1990035 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1990035 GO_process GO:1990090 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1990090 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0008289 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008289 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0002376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002376 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006629 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006629 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.25.40.20 http://www.cathdb.info/version/latest/superfamily/1.25.40.20 GeneCards TRPV1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=TRPV1 GeneID 7442 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=7442 GeneTree ENSGT00550000074425 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074425 H-InvDB HIX0013428 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0013428 H-InvDB HIX0079948 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0079948 HGNC HGNC:12716 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:12716 HOGENOM HOG000234630 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000234630&db=HOGENOM6 HOVERGEN HBG054085 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG054085&db=HOVERGEN InParanoid Q8NER1 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8NER1 InterPro IPR002110 http://www.ebi.ac.uk/interpro/entry/IPR002110 InterPro IPR004729 http://www.ebi.ac.uk/interpro/entry/IPR004729 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR008347 http://www.ebi.ac.uk/interpro/entry/IPR008347 InterPro IPR020683 http://www.ebi.ac.uk/interpro/entry/IPR020683 InterPro IPR024863 http://www.ebi.ac.uk/interpro/entry/IPR024863 Jabion 7442 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=7442 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:7442 http://www.genome.jp/dbget-bin/www_bget?hsa:7442 KEGG_Orthology KO:K05222 http://www.genome.jp/dbget-bin/www_bget?KO:K05222 KEGG_Pathway ko04080 http://www.genome.jp/kegg-bin/show_pathway?ko04080 MIM 602076 http://www.ncbi.nlm.nih.gov/omim/602076 MINT MINT-4721979 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-4721979 PANTHER PTHR10582:SF17 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10582:SF17 PRINTS PR01768 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01768 PROSITE PS50088 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50088 PROSITE PS50297 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50297 PSORT swissprot:TRPV1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:TRPV1_HUMAN PSORT-B swissprot:TRPV1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:TRPV1_HUMAN PSORT2 swissprot:TRPV1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:TRPV1_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF12796 http://pfam.xfam.org/family/PF12796 PharmGKB PA37329 http://www.pharmgkb.org/do/serve?objId=PA37329&objCls=Gene Phobius swissprot:TRPV1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:TRPV1_HUMAN PhylomeDB Q8NER1 http://phylomedb.org/?seqid=Q8NER1 ProteinModelPortal Q8NER1 http://www.proteinmodelportal.org/query/uniprot/Q8NER1 PubMed 11050376 http://www.ncbi.nlm.nih.gov/pubmed/11050376 PubMed 11226139 http://www.ncbi.nlm.nih.gov/pubmed/11226139 PubMed 11230166 http://www.ncbi.nlm.nih.gov/pubmed/11230166 PubMed 11243859 http://www.ncbi.nlm.nih.gov/pubmed/11243859 PubMed 12077606 http://www.ncbi.nlm.nih.gov/pubmed/12077606 PubMed 14987252 http://www.ncbi.nlm.nih.gov/pubmed/14987252 PubMed 14996838 http://www.ncbi.nlm.nih.gov/pubmed/14996838 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16625196 http://www.ncbi.nlm.nih.gov/pubmed/16625196 Reactome R-HSA-3295583 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-3295583 RefSeq NP_061197 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_061197 RefSeq NP_542435 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_542435 RefSeq NP_542436 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_542436 RefSeq NP_542437 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_542437 SMART SM00248 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00248 SMR Q8NER1 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q8NER1 STRING 9606.ENSP00000459962 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000459962&targetmode=cogs SUPFAM SSF48403 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48403 TCDB 1.A.4.2.13 http://www.tcdb.org/search/result.php?tc=1.A.4.2.13 TIGRFAMs TIGR00870 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00870 UCSC uc010vrr http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc010vrr&org=rat UniGene Hs.579217 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.579217 UniGene Hs.655380 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.655380 UniProtKB TRPV1_HUMAN http://www.uniprot.org/uniprot/TRPV1_HUMAN UniProtKB-AC Q8NER1 http://www.uniprot.org/uniprot/Q8NER1 charge swissprot:TRPV1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:TRPV1_HUMAN eggNOG ENOG4110DG4 http://eggnogapi.embl.de/nog_data/html/tree/ENOG4110DG4 eggNOG KOG3676 http://eggnogapi.embl.de/nog_data/html/tree/KOG3676 epestfind swissprot:TRPV1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:TRPV1_HUMAN garnier swissprot:TRPV1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:TRPV1_HUMAN helixturnhelix swissprot:TRPV1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:TRPV1_HUMAN hmoment swissprot:TRPV1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:TRPV1_HUMAN iep swissprot:TRPV1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:TRPV1_HUMAN inforesidue swissprot:TRPV1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:TRPV1_HUMAN neXtProt NX_Q8NER1 http://www.nextprot.org/db/entry/NX_Q8NER1 octanol swissprot:TRPV1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:TRPV1_HUMAN pepcoil swissprot:TRPV1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:TRPV1_HUMAN pepdigest swissprot:TRPV1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:TRPV1_HUMAN pepinfo swissprot:TRPV1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:TRPV1_HUMAN pepnet swissprot:TRPV1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:TRPV1_HUMAN pepstats swissprot:TRPV1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:TRPV1_HUMAN pepwheel swissprot:TRPV1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:TRPV1_HUMAN pepwindow swissprot:TRPV1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:TRPV1_HUMAN sigcleave swissprot:TRPV1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:TRPV1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS MRP7_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=Mrp7; IsoId=Q5T3U5-1; Sequence=Displayed; Name=2; Synonyms=Mrp7A; IsoId=Q5T3U5-2; Sequence=VSP_021078, VSP_021079, VSP_021080; # AltName MRP7_HUMAN ATP-binding cassette sub-family C member 10 # BIOPHYSICOCHEMICAL PROPERTIES MRP7_HUMAN Kinetic parameters KM=57.8 uM for 17-beta-estradiol 17-(beta-D-glucuronide) (at 37 degrees Celsius) {ECO 0000269|PubMed 12527806}; Vmax=20 pmol/min/mg enzyme toward 17-beta-estradiol 17-(beta-D- glucuronide) (at 37 degrees Celsius) {ECO 0000269|PubMed 12527806}; # BioGrid 124617 9 # CCDS CCDS4896 -. [Q5T3U5-2] # CCDS CCDS56430 -. [Q5T3U5-1] # ChiTaRS ABCC10 human # DrugBank DB00091 Cyclosporine # DrugBank DB00203 Sildenafil # DrugBank DB00300 Tenofovir # DrugBank DB00441 Gemcitabine # DrugBank DB00541 Vincristine # DrugBank DB00563 Methotrexate # DrugBank DB00661 Verapamil # DrugBank DB00694 Daunorubicin # DrugBank DB00773 Etoposide # DrugBank DB00783 Estradiol # DrugBank DB00987 Cytarabine # DrugBank DB00997 Doxorubicin # DrugBank DB01229 Paclitaxel # DrugBank DB01248 Docetaxel # Ensembl ENST00000244533 ENSP00000244533; ENSG00000124574. [Q5T3U5-2] # Ensembl ENST00000372530 ENSP00000361608; ENSG00000124574. [Q5T3U5-1] # ExpressionAtlas Q5T3U5 baseline and differential # FUNCTION MRP7_HUMAN ATP-dependent transporter probably involved in cellular detoxification through lipophilic anion extrusion. {ECO 0000269|PubMed 12527806, ECO 0000269|PubMed 15256465}. # GO_component GO:0005765 lysosomal membrane; IDA:UniProtKB. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0005524 ATP binding; IEA:UniProtKB-KW. # GO_function GO:0043225 ATPase-coupled anion transmembrane transporter activity; TAS:Reactome. # GO_process GO:0055085 transmembrane transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0055085 transmembrane transport # Gene3D 3.40.50.300 -; 2. # Genevisible Q5T3U5 HS # HGNC HGNC:52 ABCC10 # InterPro IPR003439 ABC_transporter-like # InterPro IPR003593 AAA+_ATPase # InterPro IPR011527 ABC1_TM_dom # InterPro IPR017871 ABC_transporter_CS # InterPro IPR027417 P-loop_NTPase # InterPro IPR030249 ABCC10 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02000 Transporters # KEGG_Pathway ko02010 ABC transporters # MIM 612509 gene # Organism MRP7_HUMAN Homo sapiens (Human) # PANTHER PTHR24223:SF235 PTHR24223:SF235; 2 # PIR T43469 T43469 # PROSITE PS00211 ABC_TRANSPORTER_1; 2 # PROSITE PS50893 ABC_TRANSPORTER_2; 2 # PROSITE PS50929 ABC_TM1F; 2 # Pfam PF00005 ABC_tran; 2 # Pfam PF00664 ABC_membrane; 2 # Proteomes UP000005640 Chromosome 6 # Reactome R-HSA-382556 ABC-family proteins mediated transport # RecName MRP7_HUMAN Multidrug resistance-associated protein 7 # RefSeq NP_001185863 NM_001198934.1. [Q5T3U5-1] # RefSeq NP_258261 NM_033450.2. [Q5T3U5-2] # SEQUENCE CAUTION Sequence=BAA92227.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB15736.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the ABC transporter superfamily. ABCC family. Conjugate transporter (TC 3.A.1.208) subfamily. {ECO 0000305}. # SIMILARITY Contains 2 ABC transmembrane type-1 domains. {ECO:0000255|PROSITE-ProRule PRU00441}. # SIMILARITY Contains 2 ABC transporter domains. {ECO:0000255|PROSITE-ProRule PRU00434}. # SMART SM00382 AAA; 2 # SUBCELLULAR LOCATION MRP7_HUMAN Cell membrane {ECO 0000269|PubMed 12566991, ECO 0000269|PubMed 15256465}; Multi-pass membrane protein {ECO 0000255|PROSITE-ProRule PRU00441, ECO 0000269|PubMed 12566991, ECO 0000269|PubMed 15256465}. # SUPFAM SSF52540 SSF52540; 2 # SUPFAM SSF90123 SSF90123; 2 # TCDB 3.A.1.208.31 the atp-binding cassette (abc) superfamily # TISSUE SPECIFICITY Isoform 1 is specifically expressed in spleen. Isoform 2 is more widely expressed. {ECO:0000269|PubMed 12566991}. # UCSC uc003ouy human. [Q5T3U5-1] # WEB RESOURCE MRP7_HUMAN Name=ABCMdb; Note=Database for mutations in ABC proteins; URL="http //abcmutations.hegelab.org/proteinDetails?uniprot_id=Q5T3U5"; # eggNOG COG1132 LUCA # eggNOG KOG0054 Eukaryota BLAST swissprot:MRP7_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:MRP7_HUMAN COXPRESdb 89845 http://coxpresdb.jp/data/gene/89845.shtml CleanEx HS_ABCC10 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ABCC10 DOI 10.1007/BF02256002 http://dx.doi.org/10.1007/BF02256002 DOI 10.1021/pr0705441 http://dx.doi.org/10.1021/pr0705441 DOI 10.1038/nature02055 http://dx.doi.org/10.1038/nature02055 DOI 10.1093/dnares/7.6.357 http://dx.doi.org/10.1093/dnares/7.6.357 DOI 10.1124/mol.63.2.351 http://dx.doi.org/10.1124/mol.63.2.351 DOI 10.1158/0008-5472.CAN-03-3111 http://dx.doi.org/10.1158/0008-5472.CAN-03-3111 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 DrugBank DB00091 http://www.drugbank.ca/drugs/DB00091 DrugBank DB00203 http://www.drugbank.ca/drugs/DB00203 DrugBank DB00300 http://www.drugbank.ca/drugs/DB00300 DrugBank DB00441 http://www.drugbank.ca/drugs/DB00441 DrugBank DB00541 http://www.drugbank.ca/drugs/DB00541 DrugBank DB00563 http://www.drugbank.ca/drugs/DB00563 DrugBank DB00661 http://www.drugbank.ca/drugs/DB00661 DrugBank DB00694 http://www.drugbank.ca/drugs/DB00694 DrugBank DB00773 http://www.drugbank.ca/drugs/DB00773 DrugBank DB00783 http://www.drugbank.ca/drugs/DB00783 DrugBank DB00987 http://www.drugbank.ca/drugs/DB00987 DrugBank DB00997 http://www.drugbank.ca/drugs/DB00997 DrugBank DB01229 http://www.drugbank.ca/drugs/DB01229 DrugBank DB01248 http://www.drugbank.ca/drugs/DB01248 EMBL AK000002 http://www.ebi.ac.uk/ena/data/view/AK000002 EMBL AK024446 http://www.ebi.ac.uk/ena/data/view/AK024446 EMBL AL133613 http://www.ebi.ac.uk/ena/data/view/AL133613 EMBL AL359813 http://www.ebi.ac.uk/ena/data/view/AL359813 EMBL AY032599 http://www.ebi.ac.uk/ena/data/view/AY032599 Ensembl ENST00000244533 http://www.ensembl.org/id/ENST00000244533 Ensembl ENST00000372530 http://www.ensembl.org/id/ENST00000372530 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005765 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005765 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0043225 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043225 GO_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 3.40.50.300 http://www.cathdb.info/version/latest/superfamily/3.40.50.300 GeneCards ABCC10 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ABCC10 GeneID 89845 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=89845 GeneTree ENSGT00860000133687 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00860000133687 HGNC HGNC:52 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:52 HOVERGEN HBG107141 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG107141&db=HOVERGEN HPA HPA041607 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA041607 HPA HPA045464 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA045464 InParanoid Q5T3U5 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q5T3U5 InterPro IPR003439 http://www.ebi.ac.uk/interpro/entry/IPR003439 InterPro IPR003593 http://www.ebi.ac.uk/interpro/entry/IPR003593 InterPro IPR011527 http://www.ebi.ac.uk/interpro/entry/IPR011527 InterPro IPR017871 http://www.ebi.ac.uk/interpro/entry/IPR017871 InterPro IPR027417 http://www.ebi.ac.uk/interpro/entry/IPR027417 InterPro IPR030249 http://www.ebi.ac.uk/interpro/entry/IPR030249 Jabion 89845 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=89845 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Gene hsa:89845 http://www.genome.jp/dbget-bin/www_bget?hsa:89845 KEGG_Orthology KO:K05674 http://www.genome.jp/dbget-bin/www_bget?KO:K05674 KEGG_Pathway ko02010 http://www.genome.jp/kegg-bin/show_pathway?ko02010 MIM 612509 http://www.ncbi.nlm.nih.gov/omim/612509 OMA HVAKHII http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=HVAKHII OrthoDB EOG091G00IN http://cegg.unige.ch/orthodb/results?searchtext=EOG091G00IN PANTHER PTHR24223:SF235 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24223:SF235 PROSITE PS00211 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00211 PROSITE PS50893 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50893 PROSITE PS50929 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50929 PSORT swissprot:MRP7_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:MRP7_HUMAN PSORT-B swissprot:MRP7_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:MRP7_HUMAN PSORT2 swissprot:MRP7_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:MRP7_HUMAN Pfam PF00005 http://pfam.xfam.org/family/PF00005 Pfam PF00664 http://pfam.xfam.org/family/PF00664 PharmGKB PA24392 http://www.pharmgkb.org/do/serve?objId=PA24392&objCls=Gene Phobius swissprot:MRP7_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:MRP7_HUMAN PhylomeDB Q5T3U5 http://phylomedb.org/?seqid=Q5T3U5 ProteinModelPortal Q5T3U5 http://www.proteinmodelportal.org/query/uniprot/Q5T3U5 PubMed 11214971 http://www.ncbi.nlm.nih.gov/pubmed/11214971 PubMed 12527806 http://www.ncbi.nlm.nih.gov/pubmed/12527806 PubMed 12566991 http://www.ncbi.nlm.nih.gov/pubmed/12566991 PubMed 14574404 http://www.ncbi.nlm.nih.gov/pubmed/14574404 PubMed 15256465 http://www.ncbi.nlm.nih.gov/pubmed/15256465 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 PubMed 18220336 http://www.ncbi.nlm.nih.gov/pubmed/18220336 Reactome R-HSA-382556 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-382556 RefSeq NP_001185863 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001185863 RefSeq NP_258261 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_258261 SMART SM00382 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00382 SMR Q5T3U5 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q5T3U5 STRING 9606.ENSP00000361608 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000361608&targetmode=cogs SUPFAM SSF52540 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52540 SUPFAM SSF90123 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF90123 TCDB 3.A.1.208.31 http://www.tcdb.org/search/result.php?tc=3.A.1.208.31 UCSC uc003ouy http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003ouy&org=rat UniGene Hs.55879 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.55879 UniProtKB MRP7_HUMAN http://www.uniprot.org/uniprot/MRP7_HUMAN UniProtKB-AC Q5T3U5 http://www.uniprot.org/uniprot/Q5T3U5 charge swissprot:MRP7_HUMAN http://rest.g-language.org/emboss/charge/swissprot:MRP7_HUMAN eggNOG COG1132 http://eggnogapi.embl.de/nog_data/html/tree/COG1132 eggNOG KOG0054 http://eggnogapi.embl.de/nog_data/html/tree/KOG0054 epestfind swissprot:MRP7_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:MRP7_HUMAN garnier swissprot:MRP7_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:MRP7_HUMAN helixturnhelix swissprot:MRP7_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:MRP7_HUMAN hmoment swissprot:MRP7_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:MRP7_HUMAN iep swissprot:MRP7_HUMAN http://rest.g-language.org/emboss/iep/swissprot:MRP7_HUMAN inforesidue swissprot:MRP7_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:MRP7_HUMAN neXtProt NX_Q5T3U5 http://www.nextprot.org/db/entry/NX_Q5T3U5 octanol swissprot:MRP7_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:MRP7_HUMAN pepcoil swissprot:MRP7_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:MRP7_HUMAN pepdigest swissprot:MRP7_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:MRP7_HUMAN pepinfo swissprot:MRP7_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:MRP7_HUMAN pepnet swissprot:MRP7_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:MRP7_HUMAN pepstats swissprot:MRP7_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:MRP7_HUMAN pepwheel swissprot:MRP7_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:MRP7_HUMAN pepwindow swissprot:MRP7_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:MRP7_HUMAN sigcleave swissprot:MRP7_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:MRP7_HUMAN ## Database ID URL or Descriptions # AltName S38A1_HUMAN Amino acid transporter A1 # AltName S38A1_HUMAN N-system amino acid transporter 2 # AltName S38A1_HUMAN Solute carrier family 38 member 1 # AltName S38A1_HUMAN System A amino acid transporter 1 # AltName S38A1_HUMAN System N amino acid transporter 1 # BIOPHYSICOCHEMICAL PROPERTIES Kinetic parameters: KM=890 uM for 2-methylamino-isobutyric acid (MeAIB) (at pH 8.5) {ECO 0000269|PubMed:10891391}; # BioGrid 123509 6 # ChiTaRS SLC38A1 human # ENZYME REGULATION Inhibited by potassium, choline ions and 2- methylamino-isobutyric acid (MeAIB) (By similarity). Inhibited by lithium and N-methyl-D-glucamine. {ECO:0000250, ECO 0000269|PubMed:10891391}. # Ensembl ENST00000398637 ENSP00000381634; ENSG00000111371 # Ensembl ENST00000439706 ENSP00000398142; ENSG00000111371 # Ensembl ENST00000546893 ENSP00000447853; ENSG00000111371 # Ensembl ENST00000549049 ENSP00000449607; ENSG00000111371 # ExpressionAtlas Q9H2H9 baseline and differential # FUNCTION S38A1_HUMAN Functions as a sodium-dependent amino acid transporter. Mediates the saturable, pH-sensitive and electrogenic cotransport of glutamine and sodium ions with a stoichiometry of 1 1. May also transport small zwitterionic and aliphatic amino acids with a lower affinity. May supply glutamatergic and GABAergic neurons with glutamine which is required for the synthesis of the neurotransmitters glutamate and GABA. {ECO 0000269|PubMed 10891391}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0016021 integral component of membrane; NAS:UniProtKB. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0005290 L-histidine transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015171 amino acid transmembrane transporter activity; TAS:Reactome. # GO_function GO:0015175 neutral amino acid transmembrane transporter activity; NAS:UniProtKB. # GO_function GO:0015179 L-amino acid transmembrane transporter activity; TAS:Reactome. # GO_function GO:0015182 L-asparagine transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015186 L-glutamine transmembrane transporter activity; IBA:GO_Central. # GO_function S38A1_HUMAN GO 0005283 sodium amino acid symporter activity; NAS UniProtKB. # GO_process GO:0001504 neurotransmitter uptake; TAS:Reactome. # GO_process GO:0006865 amino acid transport; TAS:Reactome. # GO_process GO:0006867 asparagine transport; IBA:GO_Central. # GO_process GO:0006868 glutamine transport; IBA:GO_Central. # GO_process GO:0015804 neutral amino acid transport; NAS:UniProtKB. # GO_process GO:0015817 histidine transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # Genevisible Q9H2H9 HS # HGNC HGNC:13447 SLC38A1 # INDUCTION S38A1_HUMAN Down-regulated by bacterial lipopolysaccharides (LPS) in glial cells. Down-regulated upon hypoxia. {ECO 0000269|PubMed 12388062, ECO 0000269|PubMed 16583402}. # INTERACTION S38A1_HUMAN Q969F0 FATE1; NbExp=5; IntAct=EBI-9978441, EBI-743099; # IntAct Q9H2H9 55 # InterPro IPR013057 AA_transpt_TM # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02001 Solute carrier family # KEGG_Pathway ko04724 Glutamatergic synapse # KEGG_Pathway ko04727 GABAergic synapse # MIM 608490 gene # Organism S38A1_HUMAN Homo sapiens (Human) # PIR JC7328 JC7328 # Pfam PF01490 Aa_trans # Proteomes UP000005640 Chromosome 12 # Reactome R-HSA-210455 Astrocytic Glutamate-Glutamine Uptake And Metabolism # Reactome R-HSA-352230 Amino acid transport across the plasma membrane # RecName S38A1_HUMAN Sodium-coupled neutral amino acid transporter 1 # RefSeq NP_001070952 NM_001077484.1 # RefSeq NP_001265316 NM_001278387.1 # RefSeq NP_001265317 NM_001278388.1 # RefSeq NP_001265318 NM_001278389.1 # RefSeq NP_109599 NM_030674.3 # SEQUENCE CAUTION Sequence=AAG44546.1; Type=Frameshift; Positions=443; Evidence={ECO:0000305}; Sequence=BAC11186.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the amino acid/polyamine transporter 2 family. {ECO 0000305}. # SUBCELLULAR LOCATION S38A1_HUMAN Cell membrane {ECO 0000269|PubMed 15054072}; Multi-pass membrane protein {ECO 0000269|PubMed 15054072}. Note=Restricted to the somatodendritic compartment of neurons. Found in the cellular processes of neurons in the developing brain (By similarity). {ECO 0000250}. # TCDB 2.A.18.6.14 the amino acid/auxin permease (aaap) family # TISSUE SPECIFICITY S38A1_HUMAN Expressed in the cerebral cortex by pyramidal and GABAergic neurons, astrocytes and other non-neuronal cells (at protein level). Expressed in placenta, heart, lung, skeletal muscle, spleen, stomach and testis. {ECO 0000269|PubMed 10891391, ECO 0000269|PubMed 12388062, ECO 0000269|PubMed 15054072, ECO 0000269|PubMed 16148032}. # UCSC uc001rpb human # eggNOG COG0814 LUCA # eggNOG KOG1305 Eukaryota BLAST swissprot:S38A1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S38A1_HUMAN COXPRESdb 81539 http://coxpresdb.jp/data/gene/81539.shtml CleanEx HS_NAT2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_NAT2 CleanEx HS_SAT1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SAT1 CleanEx HS_SLC38A1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC38A1 DOI 10.1002/jnr.20855 http://dx.doi.org/10.1002/jnr.20855 DOI 10.1006/bbrc.2000.3061 http://dx.doi.org/10.1006/bbrc.2000.3061 DOI 10.1016/j.cell.2006.09.026 http://dx.doi.org/10.1016/j.cell.2006.09.026 DOI 10.1016/j.molcel.2008.07.007 http://dx.doi.org/10.1016/j.molcel.2008.07.007 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1093/cercor/bhh018 http://dx.doi.org/10.1093/cercor/bhh018 DOI 10.1093/dnares/12.2.117 http://dx.doi.org/10.1093/dnares/12.2.117 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 DOI 10.1126/scisignal.2001570 http://dx.doi.org/10.1126/scisignal.2001570 DOI 10.1152/ajpcell.00253.2002 http://dx.doi.org/10.1152/ajpcell.00253.2002 DOI 10.1152/ajpcell.00258.2005 http://dx.doi.org/10.1152/ajpcell.00258.2005 EMBL AF247166 http://www.ebi.ac.uk/ena/data/view/AF247166 EMBL AF271070 http://www.ebi.ac.uk/ena/data/view/AF271070 EMBL AK027825 http://www.ebi.ac.uk/ena/data/view/AK027825 EMBL AK074758 http://www.ebi.ac.uk/ena/data/view/AK074758 EMBL AK074949 http://www.ebi.ac.uk/ena/data/view/AK074949 EMBL BC010620 http://www.ebi.ac.uk/ena/data/view/BC010620 EMBL CH471111 http://www.ebi.ac.uk/ena/data/view/CH471111 Ensembl ENST00000398637 http://www.ensembl.org/id/ENST00000398637 Ensembl ENST00000439706 http://www.ensembl.org/id/ENST00000439706 Ensembl ENST00000546893 http://www.ensembl.org/id/ENST00000546893 Ensembl ENST00000549049 http://www.ensembl.org/id/ENST00000549049 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0005283 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005283 GO_function GO:0005290 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005290 GO_function GO:0015171 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015171 GO_function GO:0015175 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015175 GO_function GO:0015179 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015179 GO_function GO:0015182 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015182 GO_function GO:0015186 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015186 GO_process GO:0001504 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001504 GO_process GO:0006865 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006865 GO_process GO:0006867 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006867 GO_process GO:0006868 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006868 GO_process GO:0015804 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015804 GO_process GO:0015817 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015817 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GeneCards SLC38A1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC38A1 GeneID 81539 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=81539 GeneTree ENSGT00760000119147 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119147 HGNC HGNC:13447 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:13447 HOGENOM HOG000013088 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000013088&db=HOGENOM6 HOVERGEN HBG059571 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG059571&db=HOVERGEN HPA HPA052272 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA052272 InParanoid Q9H2H9 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9H2H9 IntAct Q9H2H9 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9H2H9* InterPro IPR013057 http://www.ebi.ac.uk/interpro/entry/IPR013057 Jabion 81539 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=81539 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:81539 http://www.genome.jp/dbget-bin/www_bget?hsa:81539 KEGG_Orthology KO:K14990 http://www.genome.jp/dbget-bin/www_bget?KO:K14990 KEGG_Pathway ko04724 http://www.genome.jp/kegg-bin/show_pathway?ko04724 KEGG_Pathway ko04727 http://www.genome.jp/kegg-bin/show_pathway?ko04727 MIM 608490 http://www.ncbi.nlm.nih.gov/omim/608490 PSORT swissprot:S38A1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S38A1_HUMAN PSORT-B swissprot:S38A1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S38A1_HUMAN PSORT2 swissprot:S38A1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S38A1_HUMAN Pfam PF01490 http://pfam.xfam.org/family/PF01490 PharmGKB PA37772 http://www.pharmgkb.org/do/serve?objId=PA37772&objCls=Gene Phobius swissprot:S38A1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S38A1_HUMAN PhylomeDB Q9H2H9 http://phylomedb.org/?seqid=Q9H2H9 ProteinModelPortal Q9H2H9 http://www.proteinmodelportal.org/query/uniprot/Q9H2H9 PubMed 10891391 http://www.ncbi.nlm.nih.gov/pubmed/10891391 PubMed 12388062 http://www.ncbi.nlm.nih.gov/pubmed/12388062 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15054072 http://www.ncbi.nlm.nih.gov/pubmed/15054072 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16148032 http://www.ncbi.nlm.nih.gov/pubmed/16148032 PubMed 16303743 http://www.ncbi.nlm.nih.gov/pubmed/16303743 PubMed 16583402 http://www.ncbi.nlm.nih.gov/pubmed/16583402 PubMed 17081983 http://www.ncbi.nlm.nih.gov/pubmed/17081983 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 18691976 http://www.ncbi.nlm.nih.gov/pubmed/18691976 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 21406692 http://www.ncbi.nlm.nih.gov/pubmed/21406692 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 Reactome R-HSA-210455 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-210455 Reactome R-HSA-352230 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-352230 RefSeq NP_001070952 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001070952 RefSeq NP_001265316 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001265316 RefSeq NP_001265317 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001265317 RefSeq NP_001265318 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001265318 RefSeq NP_109599 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_109599 STRING 9606.ENSP00000381634 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000381634&targetmode=cogs TCDB 2.A.18.6.14 http://www.tcdb.org/search/result.php?tc=2.A.18.6.14 UCSC uc001rpb http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001rpb&org=rat UniGene Hs.533770 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.533770 UniProtKB S38A1_HUMAN http://www.uniprot.org/uniprot/S38A1_HUMAN UniProtKB-AC Q9H2H9 http://www.uniprot.org/uniprot/Q9H2H9 charge swissprot:S38A1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S38A1_HUMAN eggNOG COG0814 http://eggnogapi.embl.de/nog_data/html/tree/COG0814 eggNOG KOG1305 http://eggnogapi.embl.de/nog_data/html/tree/KOG1305 epestfind swissprot:S38A1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S38A1_HUMAN garnier swissprot:S38A1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S38A1_HUMAN helixturnhelix swissprot:S38A1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S38A1_HUMAN hmoment swissprot:S38A1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S38A1_HUMAN iep swissprot:S38A1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S38A1_HUMAN inforesidue swissprot:S38A1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S38A1_HUMAN neXtProt NX_Q9H2H9 http://www.nextprot.org/db/entry/NX_Q9H2H9 octanol swissprot:S38A1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S38A1_HUMAN pepcoil swissprot:S38A1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S38A1_HUMAN pepdigest swissprot:S38A1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S38A1_HUMAN pepinfo swissprot:S38A1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S38A1_HUMAN pepnet swissprot:S38A1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S38A1_HUMAN pepstats swissprot:S38A1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S38A1_HUMAN pepwheel swissprot:S38A1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S38A1_HUMAN pepwindow swissprot:S38A1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S38A1_HUMAN sigcleave swissprot:S38A1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S38A1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS VGLU3_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8NDX2-1; Sequence=Displayed; Name=2; IsoId=Q8NDX2-2; Sequence=VSP_033265; Note=No experimental confirmation available.; # AltName VGLU3_HUMAN Solute carrier family 17 member 8 # CCDS CCDS44957 -. [Q8NDX2-2] # CCDS CCDS9077 -. [Q8NDX2-1] # CDD cd06174 MFS # DISEASE VGLU3_HUMAN Deafness, autosomal dominant, 25 (DFNA25) [MIM 605583] A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA25 expression is variable in terms of onset and rate of progression, with an age-dependent penetrance resembling an early-onset presbycusis, or senile deafness, a progressive bilateral loss of hearing that occurs in the aged. {ECO 0000269|PubMed 18674745}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000323346 ENSP00000316909; ENSG00000179520. [Q8NDX2-1] # Ensembl ENST00000392989 ENSP00000376715; ENSG00000179520. [Q8NDX2-2] # FUNCTION VGLU3_HUMAN Mediates the uptake of glutamate into synaptic vesicles at presynaptic nerve terminals of excitatory neural cells. May also mediate the transport of inorganic phosphate. {ECO 0000269|PubMed 12151341}. # GO_component GO:0005771 multivesicular body; IEA:Ensembl. # GO_component GO:0016021 integral component of membrane; IBA:GO_Central. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0030672 synaptic vesicle membrane; IBA:GO_Central. # GO_component GO:0043204 perikaryon; IEA:Ensembl. # GO_component GO:0043679 axon terminus; IEA:Ensembl. # GO_component GO:0060076 excitatory synapse; IEA:Ensembl. # GO_component GO:0097440 apical dendrite; IEA:Ensembl. # GO_component GO:0097441 basilar dendrite; IEA:Ensembl. # GO_component GO:0097451 glial limiting end-foot; IEA:Ensembl. # GO_component GO:1990030 pericellular basket; IEA:Ensembl. # GO_function GO:0005313 L-glutamate transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015293 symporter activity; IEA:UniProtKB-KW. # GO_process GO:0003407 neural retina development; IEA:Ensembl. # GO_process GO:0006811 ion transport; TAS:Reactome. # GO_process GO:0006814 sodium ion transport; IEA:UniProtKB-KW. # GO_process GO:0006836 neurotransmitter transport; IEA:UniProtKB-KW. # GO_process GO:0007420 brain development; IEA:Ensembl. # GO_process GO:0007605 sensory perception of sound; IEA:UniProtKB-KW. # GO_process GO:0090102 cochlea development; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005768 endosome # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0050877 neurological system process # Genevisible Q8NDX2 HS # HGNC HGNC:20151 SLC17A8 # InterPro IPR011701 MFS # InterPro IPR020846 MFS_dom # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02000 Transporters # KEGG_Brite ko02001 Solute carrier family # KEGG_Disease H00604 [Nervous system disease; Nervous system disease] Deafness, autosomal dominant # KEGG_Pathway ko04721 Synaptic vesicle cycle # KEGG_Pathway ko04723 Retrograde endocannabinoid signaling # KEGG_Pathway ko04724 Glutamatergic synapse # KEGG_Pathway ko05033 Nicotine addiction # MIM 605583 phenotype # MIM 607557 gene # Organism VGLU3_HUMAN Homo sapiens (Human) # Orphanet 90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA # PROSITE PS50850 MFS # Pfam PF07690 MFS_1 # Proteomes UP000005640 Chromosome 12 # Reactome R-HSA-428643 Organic anion transporters # RecName VGLU3_HUMAN Vesicular glutamate transporter 3 # RefSeq NP_001138760 NM_001145288.1. [Q8NDX2-2] # RefSeq NP_647480 NM_139319.2. [Q8NDX2-1] # SIMILARITY Belongs to the major facilitator superfamily. Sodium/anion cotransporter family. VGLUT subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION VGLU3_HUMAN Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO 0000250|UniProtKB Q7TSF2}. Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. Cell junction, synapse, synaptosome {ECO 0000250|UniProtKB Q7TSF2}. # SUPFAM SSF103473 SSF103473 # TCDB 2.A.1.14.32 the major facilitator superfamily (mfs) # TISSUE SPECIFICITY Expressed in amygdala, cerebellum, hippocampus, medulla, spinal cord and thalamus. {ECO:0000269|PubMed 12151341}. # UCSC uc009ztx human. [Q8NDX2-1] # eggNOG ENOG410XPWC LUCA # eggNOG KOG2532 Eukaryota BLAST swissprot:VGLU3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:VGLU3_HUMAN BioCyc ZFISH:ENSG00000179520-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000179520-MONOMER COXPRESdb 246213 http://coxpresdb.jp/data/gene/246213.shtml CleanEx HS_SLC17A8 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC17A8 DOI 10.1016/j.ajhg.2008.07.008 http://dx.doi.org/10.1016/j.ajhg.2008.07.008 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1093/embo-reports/kvf159 http://dx.doi.org/10.1093/embo-reports/kvf159 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AJ459241 http://www.ebi.ac.uk/ena/data/view/AJ459241 EMBL AK128319 http://www.ebi.ac.uk/ena/data/view/AK128319 EMBL BC117229 http://www.ebi.ac.uk/ena/data/view/BC117229 EMBL BC143396 http://www.ebi.ac.uk/ena/data/view/BC143396 EMBL CH471054 http://www.ebi.ac.uk/ena/data/view/CH471054 Ensembl ENST00000323346 http://www.ensembl.org/id/ENST00000323346 Ensembl ENST00000392989 http://www.ensembl.org/id/ENST00000392989 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005771 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005771 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0030672 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030672 GO_component GO:0043204 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043204 GO_component GO:0043679 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043679 GO_component GO:0060076 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060076 GO_component GO:0097440 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097440 GO_component GO:0097441 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097441 GO_component GO:0097451 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097451 GO_component GO:1990030 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1990030 GO_function GO:0005313 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005313 GO_function GO:0015293 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015293 GO_process GO:0003407 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003407 GO_process GO:0006811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006811 GO_process GO:0006814 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006814 GO_process GO:0006836 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006836 GO_process GO:0007420 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007420 GO_process GO:0007605 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007605 GO_process GO:0090102 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090102 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GeneCards SLC17A8 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC17A8 GeneID 246213 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=246213 GeneTree ENSGT00760000119079 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119079 HGNC HGNC:20151 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:20151 HOGENOM HOG000230812 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000230812&db=HOGENOM6 HOVERGEN HBG008834 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG008834&db=HOVERGEN InParanoid Q8NDX2 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8NDX2 InterPro IPR011701 http://www.ebi.ac.uk/interpro/entry/IPR011701 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 246213 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=246213 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Disease H00604 http://www.genome.jp/dbget-bin/www_bget?H00604 KEGG_Gene hsa:246213 http://www.genome.jp/dbget-bin/www_bget?hsa:246213 KEGG_Orthology KO:K12302 http://www.genome.jp/dbget-bin/www_bget?KO:K12302 KEGG_Pathway ko04721 http://www.genome.jp/kegg-bin/show_pathway?ko04721 KEGG_Pathway ko04723 http://www.genome.jp/kegg-bin/show_pathway?ko04723 KEGG_Pathway ko04724 http://www.genome.jp/kegg-bin/show_pathway?ko04724 KEGG_Pathway ko05033 http://www.genome.jp/kegg-bin/show_pathway?ko05033 MIM 605583 http://www.ncbi.nlm.nih.gov/omim/605583 MIM 607557 http://www.ncbi.nlm.nih.gov/omim/607557 OMA IWIMALM http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=IWIMALM Orphanet 90635 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=90635 OrthoDB EOG091G06DG http://cegg.unige.ch/orthodb/results?searchtext=EOG091G06DG PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PSORT swissprot:VGLU3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:VGLU3_HUMAN PSORT-B swissprot:VGLU3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:VGLU3_HUMAN PSORT2 swissprot:VGLU3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:VGLU3_HUMAN Pfam PF07690 http://pfam.xfam.org/family/PF07690 PharmGKB PA223010 http://www.pharmgkb.org/do/serve?objId=PA223010&objCls=Gene Phobius swissprot:VGLU3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:VGLU3_HUMAN PhylomeDB Q8NDX2 http://phylomedb.org/?seqid=Q8NDX2 ProteinModelPortal Q8NDX2 http://www.proteinmodelportal.org/query/uniprot/Q8NDX2 PubMed 12151341 http://www.ncbi.nlm.nih.gov/pubmed/12151341 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 18674745 http://www.ncbi.nlm.nih.gov/pubmed/18674745 Reactome R-HSA-428643 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-428643 RefSeq NP_001138760 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001138760 RefSeq NP_647480 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_647480 STRING 9606.ENSP00000316909 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000316909&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.1.14.32 http://www.tcdb.org/search/result.php?tc=2.A.1.14.32 UCSC uc009ztx http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc009ztx&org=rat UniGene Hs.116871 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.116871 UniProtKB VGLU3_HUMAN http://www.uniprot.org/uniprot/VGLU3_HUMAN UniProtKB-AC Q8NDX2 http://www.uniprot.org/uniprot/Q8NDX2 charge swissprot:VGLU3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:VGLU3_HUMAN eggNOG ENOG410XPWC http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XPWC eggNOG KOG2532 http://eggnogapi.embl.de/nog_data/html/tree/KOG2532 epestfind swissprot:VGLU3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:VGLU3_HUMAN garnier swissprot:VGLU3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:VGLU3_HUMAN helixturnhelix swissprot:VGLU3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:VGLU3_HUMAN hmoment swissprot:VGLU3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:VGLU3_HUMAN iep swissprot:VGLU3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:VGLU3_HUMAN inforesidue swissprot:VGLU3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:VGLU3_HUMAN neXtProt NX_Q8NDX2 http://www.nextprot.org/db/entry/NX_Q8NDX2 octanol swissprot:VGLU3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:VGLU3_HUMAN pepcoil swissprot:VGLU3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:VGLU3_HUMAN pepdigest swissprot:VGLU3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:VGLU3_HUMAN pepinfo swissprot:VGLU3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:VGLU3_HUMAN pepnet swissprot:VGLU3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:VGLU3_HUMAN pepstats swissprot:VGLU3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:VGLU3_HUMAN pepwheel swissprot:VGLU3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:VGLU3_HUMAN pepwindow swissprot:VGLU3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:VGLU3_HUMAN sigcleave swissprot:VGLU3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:VGLU3_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS ABCG8_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9H221-1; Sequence=Displayed; Name=2; IsoId=Q9H221-2; Sequence=VSP_000052; Note=Minor form detected in approximately 10% of the cDNA clones.; # AltName ABCG8_HUMAN Sterolin-2 # BioGrid 122125 13 # CAUTION Seems to have a defective ATP-binding region. {ECO 0000305}. # CCDS CCDS1815 -. [Q9H221-1] # DISEASE ABCG8_HUMAN Gallbladder disease 4 (GBD4) [MIM 611465] One of the major digestive diseases. Gallstones composed of cholesterol (cholelithiasis) are the common manifestations in western countries. Most people with gallstones, however, remain asymptomatic through their lifetimes. {ECO 0000269|PubMed 17632509}. Note=Disease susceptibility may be associated with variations affecting the gene represented in this entry. # DISEASE ABCG8_HUMAN Sitosterolemia (STSL) [MIM 210250] Rare autosomal recessive disorder characterized by increased intestinal absorption of all sterols including cholesterol, plant and shellfish sterols, and decreased biliary excretion of dietary sterols into bile. Sitosterolemia patients have hypercholesterolemia, very high levels of plant sterols in the plasma, and frequently develop tendon and tuberous xanthomas, accelerated atherosclerosis and premature coronary artery disease. {ECO 0000269|PubMed 11099417, ECO 0000269|PubMed 11452359}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DrugBank DB00973 Ezetimibe # Ensembl ENST00000272286 ENSP00000272286; ENSG00000143921. [Q9H221-1] # FUNCTION ABCG8_HUMAN Transporter that appears to play an indispensable role in the selective transport of the dietary cholesterol in and out of the enterocytes and in the selective sterol excretion by the liver into bile. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0016324 apical plasma membrane; IMP:BHF-UCL. # GO_component GO:0043190 ATP-binding cassette (ABC) transporter complex; IDA:BHF-UCL. # GO_component GO:0043235 receptor complex; IDA:BHF-UCL. # GO_function GO:0005524 ATP binding; IEA:InterPro. # GO_function GO:0017127 cholesterol transporter activity; IEA:Ensembl. # GO_function GO:0042626 ATPase activity, coupled to transmembrane movement of substances; IBA:GO_Central. # GO_function GO:0046982 protein heterodimerization activity; IPI:BHF-UCL. # GO_process GO:0007584 response to nutrient; IEA:Ensembl. # GO_process GO:0007588 excretion; IGI:BHF-UCL. # GO_process GO:0010949 negative regulation of intestinal phytosterol absorption; IMP:BHF-UCL. # GO_process GO:0015914 phospholipid transport; IEA:Ensembl. # GO_process GO:0015918 sterol transport; TAS:Reactome. # GO_process GO:0030299 intestinal cholesterol absorption; IC:BHF-UCL. # GO_process GO:0033344 cholesterol efflux; IGI:BHF-UCL. # GO_process GO:0042493 response to drug; IEA:Ensembl. # GO_process GO:0042632 cholesterol homeostasis; IMP:BHF-UCL. # GO_process GO:0045796 negative regulation of intestinal cholesterol absorption; IMP:BHF-UCL. # GO_process GO:0055085 transmembrane transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 3.40.50.300 -; 1. # Genevisible Q9H221 HS # HGNC HGNC:13887 ABCG8 # INTERACTION ABCG8_HUMAN Q9H222 ABCG5; NbExp=2; IntAct=EBI-3908684, EBI-1761423; # IntAct Q9H221 8 # InterPro IPR003439 ABC_transporter-like # InterPro IPR013525 ABC_2_trans # InterPro IPR017871 ABC_transporter_CS # InterPro IPR027417 P-loop_NTPase # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02000 Transporters # KEGG_Disease H00152 [Inherited metabolic disease; Cardiovascular disease] Sitosterolemia # KEGG_Disease H01213 [Digestive disease] Cholelithiasis # KEGG_Pathway ko02010 ABC transporters # KEGG_Pathway ko04975 Fat digestion and absorption # KEGG_Pathway ko04976 Bile secretion # MIM 210250 phenotype # MIM 605460 gene # MIM 611465 phenotype # Organism ABCG8_HUMAN Homo sapiens (Human) # Orphanet 2882 Sitosterolemia # PDB 5DO7 X-ray; 3.93 A; B/D=2-673 # PROSITE PS00211 ABC_TRANSPORTER_1 # PROSITE PS50893 ABC_TRANSPORTER_2 # Pfam PF00005 ABC_tran # Pfam PF01061 ABC2_membrane # Proteomes UP000005640 Chromosome 2 # Reactome R-HSA-1369062 ABC transporters in lipid homeostasis # Reactome R-HSA-265473 Trafficking of dietary sterols # RecName ABCG8_HUMAN ATP-binding cassette sub-family G member 8 # RefSeq NP_071882 NM_022437.2. [Q9H221-1] # RefSeq XP_005264540 XM_005264483.3. [Q9H221-2] # SIMILARITY Belongs to the ABC transporter superfamily. ABCG family. Eye pigment precursor importer (TC 3.A.1.204) subfamily. {ECO 0000305}. # SIMILARITY Contains 1 ABC transmembrane type-2 domain. {ECO 0000305}. # SIMILARITY Contains 1 ABC transporter domain. {ECO:0000255|PROSITE-ProRule PRU00434}. # SUBCELLULAR LOCATION ABCG8_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # SUBUNIT ABCG8_HUMAN May form heterodimers with ABCG5 or be tightly coupled to ABCG5 along a pathway regulating diatery-sterol absorption and excretion. # SUPFAM SSF52540 SSF52540 # TCDB 3.A.1.204 the atp-binding cassette (abc) superfamily # TISSUE SPECIFICITY ABCG8_HUMAN Strongly expressed in the liver, lower levels in the small intestine and colon. Detectable in a wide variety of human tissues. # UCSC uc002rtq human. [Q9H221-1] # WEB RESOURCE ABCG8_HUMAN Name=ABCMdb; Note=Database for mutations in ABC proteins; URL="http //abcmutations.hegelab.org/proteinDetails?uniprot_id=Q9H221"; # eggNOG COG1131 LUCA # eggNOG KOG0061 Eukaryota BLAST swissprot:ABCG8_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ABCG8_HUMAN BioCyc ZFISH:ENSG00000143921-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000143921-MONOMER COXPRESdb 64241 http://coxpresdb.jp/data/gene/64241.shtml CleanEx HS_ABCG8 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ABCG8 DIP DIP-42631N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-42631N DOI 10.1002/humu.1206 http://dx.doi.org/10.1002/humu.1206 DOI 10.1007/s100380200041 http://dx.doi.org/10.1007/s100380200041 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1038/ng2101 http://dx.doi.org/10.1038/ng2101 DOI 10.1086/321294 http://dx.doi.org/10.1086/321294 DOI 10.1126/science.290.5497.1771 http://dx.doi.org/10.1126/science.290.5497.1771 DrugBank DB00973 http://www.drugbank.ca/drugs/DB00973 EMBL AC108476 http://www.ebi.ac.uk/ena/data/view/AC108476 EMBL AF320294 http://www.ebi.ac.uk/ena/data/view/AF320294 EMBL AF324494 http://www.ebi.ac.uk/ena/data/view/AF324494 EMBL AF351812 http://www.ebi.ac.uk/ena/data/view/AF351812 EMBL AF351813 http://www.ebi.ac.uk/ena/data/view/AF351813 EMBL AF351814 http://www.ebi.ac.uk/ena/data/view/AF351814 EMBL AF351815 http://www.ebi.ac.uk/ena/data/view/AF351815 EMBL AF351816 http://www.ebi.ac.uk/ena/data/view/AF351816 EMBL AF351817 http://www.ebi.ac.uk/ena/data/view/AF351817 EMBL AF351818 http://www.ebi.ac.uk/ena/data/view/AF351818 EMBL AF351819 http://www.ebi.ac.uk/ena/data/view/AF351819 EMBL AF351820 http://www.ebi.ac.uk/ena/data/view/AF351820 EMBL AF351821 http://www.ebi.ac.uk/ena/data/view/AF351821 EMBL AF351822 http://www.ebi.ac.uk/ena/data/view/AF351822 EMBL AF351823 http://www.ebi.ac.uk/ena/data/view/AF351823 EMBL AF351824 http://www.ebi.ac.uk/ena/data/view/AF351824 Ensembl ENST00000272286 http://www.ensembl.org/id/ENST00000272286 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:0043190 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043190 GO_component GO:0043235 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043235 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0017127 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0017127 GO_function GO:0042626 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042626 GO_function GO:0046982 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046982 GO_process GO:0007584 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007584 GO_process GO:0007588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007588 GO_process GO:0010949 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010949 GO_process GO:0015914 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015914 GO_process GO:0015918 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015918 GO_process GO:0030299 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030299 GO_process GO:0033344 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033344 GO_process GO:0042493 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042493 GO_process GO:0042632 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042632 GO_process GO:0045796 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045796 GO_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 3.40.50.300 http://www.cathdb.info/version/latest/superfamily/3.40.50.300 GeneCards ABCG8 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ABCG8 GeneID 64241 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=64241 GeneTree ENSGT00740000114855 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00740000114855 HGNC HGNC:13887 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:13887 HOGENOM HOG000033764 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000033764&db=HOGENOM6 HOVERGEN HBG050444 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050444&db=HOVERGEN HPA HPA019556 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA019556 InParanoid Q9H221 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9H221 IntAct Q9H221 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9H221* InterPro IPR003439 http://www.ebi.ac.uk/interpro/entry/IPR003439 InterPro IPR013525 http://www.ebi.ac.uk/interpro/entry/IPR013525 InterPro IPR017871 http://www.ebi.ac.uk/interpro/entry/IPR017871 InterPro IPR027417 http://www.ebi.ac.uk/interpro/entry/IPR027417 Jabion 64241 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=64241 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Disease H00152 http://www.genome.jp/dbget-bin/www_bget?H00152 KEGG_Disease H01213 http://www.genome.jp/dbget-bin/www_bget?H01213 KEGG_Gene hsa:64241 http://www.genome.jp/dbget-bin/www_bget?hsa:64241 KEGG_Orthology KO:K05684 http://www.genome.jp/dbget-bin/www_bget?KO:K05684 KEGG_Pathway ko02010 http://www.genome.jp/kegg-bin/show_pathway?ko02010 KEGG_Pathway ko04975 http://www.genome.jp/kegg-bin/show_pathway?ko04975 KEGG_Pathway ko04976 http://www.genome.jp/kegg-bin/show_pathway?ko04976 MIM 210250 http://www.ncbi.nlm.nih.gov/omim/210250 MIM 605460 http://www.ncbi.nlm.nih.gov/omim/605460 MIM 611465 http://www.ncbi.nlm.nih.gov/omim/611465 MINT MINT-2840535 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-2840535 OMA FTYSGQP http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=FTYSGQP Orphanet 2882 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=2882 OrthoDB EOG091G0E38 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0E38 PDB 5DO7 http://www.ebi.ac.uk/pdbe-srv/view/entry/5DO7 PDBsum 5DO7 http://www.ebi.ac.uk/pdbsum/5DO7 PROSITE PS00211 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00211 PROSITE PS50893 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50893 PSORT swissprot:ABCG8_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ABCG8_HUMAN PSORT-B swissprot:ABCG8_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ABCG8_HUMAN PSORT2 swissprot:ABCG8_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ABCG8_HUMAN Pfam PF00005 http://pfam.xfam.org/family/PF00005 Pfam PF01061 http://pfam.xfam.org/family/PF01061 PharmGKB PA24412 http://www.pharmgkb.org/do/serve?objId=PA24412&objCls=Gene Phobius swissprot:ABCG8_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ABCG8_HUMAN PhylomeDB Q9H221 http://phylomedb.org/?seqid=Q9H221 ProteinModelPortal Q9H221 http://www.proteinmodelportal.org/query/uniprot/Q9H221 PubMed 11099417 http://www.ncbi.nlm.nih.gov/pubmed/11099417 PubMed 11452359 http://www.ncbi.nlm.nih.gov/pubmed/11452359 PubMed 11590207 http://www.ncbi.nlm.nih.gov/pubmed/11590207 PubMed 11668628 http://www.ncbi.nlm.nih.gov/pubmed/11668628 PubMed 12111378 http://www.ncbi.nlm.nih.gov/pubmed/12111378 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 PubMed 17632509 http://www.ncbi.nlm.nih.gov/pubmed/17632509 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 Reactome R-HSA-1369062 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1369062 Reactome R-HSA-265473 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-265473 RefSeq NP_071882 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_071882 RefSeq XP_005264540 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005264540 SMR Q9H221 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9H221 STRING 9606.ENSP00000272286 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000272286&targetmode=cogs SUPFAM SSF52540 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52540 TCDB 3.A.1.204 http://www.tcdb.org/search/result.php?tc=3.A.1.204 UCSC uc002rtq http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002rtq&org=rat UniGene Hs.413931 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.413931 UniProtKB ABCG8_HUMAN http://www.uniprot.org/uniprot/ABCG8_HUMAN UniProtKB-AC Q9H221 http://www.uniprot.org/uniprot/Q9H221 charge swissprot:ABCG8_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ABCG8_HUMAN eggNOG COG1131 http://eggnogapi.embl.de/nog_data/html/tree/COG1131 eggNOG KOG0061 http://eggnogapi.embl.de/nog_data/html/tree/KOG0061 epestfind swissprot:ABCG8_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ABCG8_HUMAN garnier swissprot:ABCG8_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ABCG8_HUMAN helixturnhelix swissprot:ABCG8_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ABCG8_HUMAN hmoment swissprot:ABCG8_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ABCG8_HUMAN iep swissprot:ABCG8_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ABCG8_HUMAN inforesidue swissprot:ABCG8_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ABCG8_HUMAN neXtProt NX_Q9H221 http://www.nextprot.org/db/entry/NX_Q9H221 octanol swissprot:ABCG8_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ABCG8_HUMAN pepcoil swissprot:ABCG8_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ABCG8_HUMAN pepdigest swissprot:ABCG8_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ABCG8_HUMAN pepinfo swissprot:ABCG8_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ABCG8_HUMAN pepnet swissprot:ABCG8_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ABCG8_HUMAN pepstats swissprot:ABCG8_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ABCG8_HUMAN pepwheel swissprot:ABCG8_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ABCG8_HUMAN pepwindow swissprot:ABCG8_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ABCG8_HUMAN sigcleave swissprot:ABCG8_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ABCG8_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS GLRA1_HUMAN Event=Alternative splicing; Named isoforms=2; Name=a; IsoId=P23415-1; Sequence=Displayed; Name=b; IsoId=P23415-2; Sequence=VSP_021142; # AltName GLRA1_HUMAN Glycine receptor 48 kDa subunit # AltName GLRA1_HUMAN Glycine receptor strychnine-binding subunit # BIOPHYSICOCHEMICAL PROPERTIES GLRA1_HUMAN Kinetic parameters Note=A concentration of about 0.02 mM glycine results in half- maximal channel conductance for homopentamers. A concentration of 0.018 mM glycine results in half-maximal channel conductance for homopentamers upon heterologous expression in cultured human embryonic kidney cells (PubMed 9009272). A concentration of 0.027 mM glycine results in half-maximal channel conductance for homopentamers upon heterologous expression in cultured human embryonic kidney cells (PubMed 7920629). {ECO 0000269|PubMed 7920629, ECO 0000269|PubMed 9009272}; # CCDS CCDS4320 -. [P23415-2] # CCDS CCDS54942 -. [P23415-1] # DISEASE GLRA1_HUMAN Hyperekplexia 1 (HKPX1) [MIM 149400] A neurologic disorder characterized by muscular rigidity of central nervous system origin, particularly in the neonatal period, and by an exaggerated startle response to unexpected acoustic or tactile stimuli. {ECO 0000269|PubMed 10514101, ECO 0000269|PubMed 24108130, ECO 0000269|PubMed 7611730, ECO 0000269|PubMed 7881416, ECO 0000269|PubMed 7981700, ECO 0000269|PubMed 8298642, ECO 0000269|PubMed 8571969, ECO 0000269|PubMed 8733061, ECO 0000269|PubMed 9067762, ECO 0000269|PubMed 9920650, ECO 0000269|Ref.18}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DOMAIN GLRA1_HUMAN The channel pore is formed by pentameric assembly of the second transmembrane domain from all five subunits. In the absence of the extracellular domain, the channel is in a constitutively open conformation (PubMed 23994010). Channel opening is effected by an outward rotation of the transmembrane domains that increases the diameter of the pore (By similarity). {ECO 0000250|UniProtKB O93430, ECO 0000269|PubMed 23994010}. # DrugBank DB00145 Glycine # DrugBank DB00228 Enflurane # DrugBank DB00431 Lindane # DrugBank DB00753 Isoflurane # DrugBank DB00898 Ethanol # DrugBank DB01028 Methoxyflurane # DrugBank DB01159 Halothane # DrugBank DB01189 Desflurane # DrugBank DB01236 Sevoflurane # DrugBank DB01381 Ginkgo biloba # ENZYME REGULATION GLRA1_HUMAN Channel activity is potentiated by nanomolar concentrations of Zn(2+); half-maximal activation is observed with 37 nM Zn(2+) (PubMed 16144831). Inhibited by higher Zn(2+) levels; haf-maximal inhibition occurs at 20 uM Zn(2+) (PubMed 16144831). Inhibited by strychnine (PubMed 2155780, PubMed 16144831, PubMed 25445488). Inhibited by lindane (PubMed 25445488). Inhibited by picrotoxin (PubMed 22715885, PubMed 23994010, PubMed 25730860). Strychnine binding locks the channel in a closed conformation and prevents channel opening in response to extracellular glycine (By similarity). {ECO 0000250|UniProtKB O93430, ECO 0000269|PubMed 16144831, ECO 0000269|PubMed 2155780, ECO 0000269|PubMed 22715885, ECO 0000269|PubMed 23994010, ECO 0000269|PubMed 25445488, ECO 0000269|PubMed 25730860}. # Ensembl ENST00000274576 ENSP00000274576; ENSG00000145888. [P23415-2] # Ensembl ENST00000455880 ENSP00000411593; ENSG00000145888. [P23415-1] # ExpressionAtlas P23415 baseline and differential # FUNCTION GLRA1_HUMAN Glycine receptors are ligand-gated chloride channels (PubMed 23994010, PubMed 25730860). Channel opening is triggered by extracellular glycine (PubMed 2155780, PubMed 7920629, PubMed 14551753, PubMed 16144831, PubMed 22715885, PubMed 22973015, PubMed 25973519, PubMed 9009272). Channel opening is also triggered by taurine and beta-alanine (PubMed 16144831, PubMed 9009272). Channel characteristics depend on the subunit composition; heteropentameric channels are activated by lower glycine levels and display faster desensitization (PubMed 14551753). Plays an important role in the down-regulation of neuronal excitability (PubMed 8298642, PubMed 9009272). Contributes to the generation of inhibitory postsynaptic currents (PubMed 25445488). Channel activity is potentiated by ethanol (PubMed 25973519). Potentiation of channel activity by intoxicating levels ot ethanol contribute to the sedative effects of ethanol (By similarity). {ECO 0000250|UniProtKB Q64018, ECO 0000269|PubMed 14551753, ECO 0000269|PubMed 16144831, ECO 0000269|PubMed 2155780, ECO 0000269|PubMed 22715885, ECO 0000269|PubMed 22973015, ECO 0000269|PubMed 23994010, ECO 0000269|PubMed 25445488, ECO 0000269|PubMed 25730860, ECO 0000269|PubMed 25973519, ECO 0000269|PubMed 7920629, ECO 0000269|PubMed 7925268, ECO 0000269|PubMed 9009272, ECO 0000305|PubMed 8298642}. # GO_component GO:0005783 endoplasmic reticulum; IEA:Ensembl. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IDA:UniProtKB. # GO_component GO:0009897 external side of plasma membrane; IEA:Ensembl. # GO_component GO:0016021 integral component of membrane; NAS:UniProtKB. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0030425 dendrite; IEA:UniProtKB-SubCell. # GO_component GO:0034707 chloride channel complex; IEA:UniProtKB-KW. # GO_component GO:0043005 neuron projection; ISS:UniProtKB. # GO_component GO:0043025 neuronal cell body; ISS:UniProtKB. # GO_component GO:0043204 perikaryon; IEA:UniProtKB-SubCell. # GO_component GO:0043231 intracellular membrane-bounded organelle; IDA:UniProtKB. # GO_component GO:0045202 synapse; ISS:UniProtKB. # GO_component GO:0045211 postsynaptic membrane; IEA:UniProtKB-SubCell. # GO_component GO:0060077 inhibitory synapse; IEA:Ensembl. # GO_function GO:0008270 zinc ion binding; IMP:UniProtKB. # GO_function GO:0016594 glycine binding; IDA:UniProtKB. # GO_function GO:0016934 extracellular-glycine-gated chloride channel activity; IDA:UniProtKB. # GO_function GO:0022824 transmitter-gated ion channel activity; IEA:InterPro. # GO_function GO:0030977 taurine binding; IDA:UniProtKB. # GO_process GO:0001508 action potential; IEA:Ensembl. # GO_process GO:0001964 startle response; IMP:UniProtKB. # GO_process GO:0002087 regulation of respiratory gaseous exchange by neurological system process; IEA:Ensembl. # GO_process GO:0006811 ion transport; IDA:UniProtKB. # GO_process GO:0006821 chloride transport; IDA:UniProtKB. # GO_process GO:0006936 muscle contraction; IMP:UniProtKB. # GO_process GO:0007218 neuropeptide signaling pathway; IDA:UniProtKB. # GO_process GO:0007340 acrosome reaction; IEA:Ensembl. # GO_process GO:0007601 visual perception; IEA:Ensembl. # GO_process GO:0007628 adult walking behavior; IEA:Ensembl. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0042391 regulation of membrane potential; IMP:MGI. # GO_process GO:0050884 neuromuscular process controlling posture; IEA:Ensembl. # GO_process GO:0051260 protein homooligomerization; IEA:Ensembl. # GO_process GO:0051291 protein heterooligomerization; IEA:Ensembl. # GO_process GO:0051970 negative regulation of transmission of nerve impulse; IMP:UniProtKB. # GO_process GO:0060012 synaptic transmission, glycinergic; ISS:UniProtKB. # GO_process GO:0060013 righting reflex; IEA:Ensembl. # GO_process GO:0060080 inhibitory postsynaptic potential; ISS:UniProtKB. # GO_process GO:0071230 cellular response to amino acid stimulus; IDA:UniProtKB. # GO_process GO:0071294 cellular response to zinc ion; IDA:UniProtKB. # GO_process GO:0071361 cellular response to ethanol; IDA:UniProtKB. # GO_process GO:0097305 response to alcohol; ISS:UniProtKB. # GO_process GO:1902476 chloride transmembrane transport; IDA:UniProtKB. # GO_process GO:2000344 positive regulation of acrosome reaction; IMP:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # GOslim_process GO:0050877 neurological system process # GOslim_process GO:0055085 transmembrane transport # Gene3D 2.70.170.10 -; 1. # Genevisible P23415 HS # HGNC HGNC:4326 GLRA1 # InterPro IPR006028 GABAA/Glycine_rcpt # InterPro IPR006029 Neurotrans-gated_channel_TM # InterPro IPR006201 Neur_channel # InterPro IPR006202 Neur_chan_lig-bd # InterPro IPR008127 Glycine_rcpt_A # InterPro IPR008128 Glycine_rcpt_A1 # InterPro IPR018000 Neurotransmitter_ion_chnl_CS # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00769 [Nervous system disease] Hyperekplexia # KEGG_Pathway ko04080 Neuroactive ligand-receptor interaction # MIM 138491 gene # MIM 149400 phenotype # MISCELLANEOUS The alpha subunit binds strychnine. {ECO:0000269|PubMed 2155780}. # Organism GLRA1_HUMAN Homo sapiens (Human) # Orphanet 3197 Hereditary hyperekplexia # PANTHER PTHR18945 PTHR18945 # PDB 1MOT NMR; -; A=277-304 # PDB 1VRY NMR; -; A=278-337 # PDB 2M6B NMR; -; A=244-453 # PDB 2M6I NMR; -; A/B/C/D/E=244-453 # PDB 4X5T X-ray; 3.50 A; A/B/C/D/E=246-338, A/B/C/D/E=418-446 # PIR S12382 S12382 # PRINTS PR00252 NRIONCHANNEL # PRINTS PR00253 GABAARECEPTR # PRINTS PR01673 GLYRALPHA # PRINTS PR01674 GLYRALPHA1 # PROSITE PS00236 NEUROTR_ION_CHANNEL # Pfam PF02931 Neur_chan_LBD # Pfam PF02932 Neur_chan_memb # Proteomes UP000005640 Chromosome 5 # Reactome R-HSA-975298 Ligand-gated ion channel transport # RecName GLRA1_HUMAN Glycine receptor subunit alpha-1 # RefSeq NP_000162 NM_000171.3. [P23415-2] # RefSeq NP_001139512 NM_001146040.1. [P23415-1] # SIMILARITY Belongs to the ligand-gated ion channel (TC 1.A.9) family. Glycine receptor (TC 1.A.9.3) subfamily. GLRA1 sub- subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION GLRA1_HUMAN Cell junction, synapse, postsynaptic cell membrane {ECO 0000250|UniProtKB Q64018}; Multi-pass membrane protein {ECO 0000250|UniProtKB Q64018}. Cell junction, synapse {ECO 0000250|UniProtKB Q64018}. Perikaryon {ECO 0000250|UniProtKB Q64018}. Cell projection, dendrite {ECO 0000250|UniProtKB Q64018}. Cell membrane {ECO 0000269|PubMed 14551753, ECO 0000269|PubMed 16144831, ECO 0000269|PubMed 2155780, ECO 0000269|PubMed 22715885, ECO 0000269|PubMed 22973015, ECO 0000269|PubMed 24108130, ECO 0000269|PubMed 25445488, ECO 0000269|PubMed 25730860, ECO 0000269|PubMed 25973519, ECO 0000269|PubMed 7920629, ECO 0000269|PubMed 7925268, ECO 0000269|PubMed 9009272}; Multi- pass membrane protein {ECO 0000269|PubMed 23994010, ECO 0000269|PubMed 25730860, ECO 0000305|PubMed 2155780}. # SUBUNIT GLRA1_HUMAN Homopentamer (in vitro) (PubMed 22715885, PubMed 22973015, PubMed 23994010, PubMed 25730860). Interacts with GLRB to form heteropentameric channels; this is probably the predominant form in vivo (PubMed 22715885, PubMed 22973015, PubMed 25445488). Heteropentamer composed of two GLRA1 and three GLRB (PubMed 22715885). Heteropentamer composed of three GLRA1 and two GLRB (PubMed 22973015). Both homopentamers and heteropentamers form functional ion channels, but their characteristics are subtly different (PubMed 14551753, PubMed 22715885, PubMed 22973015, PubMed 25445488, PubMed 23994010, PubMed 25730860). {ECO 0000269|PubMed 14551753, ECO 0000269|PubMed 22715885, ECO 0000269|PubMed 22973015, ECO 0000269|PubMed 23994010, ECO 0000269|PubMed 25445488, ECO 0000269|PubMed 25730860}. # SUPFAM SSF63712 SSF63712 # SUPFAM SSF90112 SSF90112 # TCDB 1.A.9.3 the neurotransmitter receptor, cys loop, ligand-gated ion channel (lic) family # TIGRFAMs TIGR00860 LIC # UCSC uc003lur human. [P23415-1] # eggNOG ENOG410XPWH LUCA # eggNOG KOG3643 Eukaryota BLAST swissprot:GLRA1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:GLRA1_HUMAN BioCyc ZFISH:ENSG00000145888-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000145888-MONOMER COXPRESdb 2741 http://coxpresdb.jp/data/gene/2741.shtml CleanEx HS_GLRA1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_GLRA1 DIP DIP-48768N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-48768N DOI 10.1002/(SICI)1098-1004(1997)9:2<185::AID-HUMU14>3.0.CO http://dx.doi.org/10.1002/(SICI)1098-1004(1997)9:2<185::AID-HUMU14>3.0.CO DOI 10.1002/1531-8249(199910)46:4<634::AID-ANA12>3.0.CO http://dx.doi.org/10.1002/1531-8249(199910)46:4<634::AID-ANA12>3.0.CO DOI 10.1002/ana.410380115 http://dx.doi.org/10.1002/ana.410380115 DOI 10.1007/s00249-003-0286-y http://dx.doi.org/10.1007/s00249-003-0286-y DOI 10.1016/j.neuropharm.2014.10.026 http://dx.doi.org/10.1016/j.neuropharm.2014.10.026 DOI 10.1016/j.str.2013.07.014 http://dx.doi.org/10.1016/j.str.2013.07.014 DOI 10.1021/bi026767g http://dx.doi.org/10.1021/bi026767g DOI 10.1021/bi050256n http://dx.doi.org/10.1021/bi050256n DOI 10.1021/bi300063m http://dx.doi.org/10.1021/bi300063m DOI 10.1038/ng0694-131 http://dx.doi.org/10.1038/ng0694-131 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1038/ng1293-351 http://dx.doi.org/10.1038/ng1293-351 DOI 10.1073/pnas.1417864112 http://dx.doi.org/10.1073/pnas.1417864112 DOI 10.1074/jbc.M109.043448 http://dx.doi.org/10.1074/jbc.M109.043448 DOI 10.1074/jbc.M113.509240 http://dx.doi.org/10.1074/jbc.M113.509240 DOI 10.1074/jbc.M508303200 http://dx.doi.org/10.1074/jbc.M508303200 DOI 10.1093/emboj/16.1.110 http://dx.doi.org/10.1093/emboj/16.1.110 DOI 10.1093/hmg/3.12.2175 http://dx.doi.org/10.1093/hmg/3.12.2175 DOI 10.1093/hmg/3.7.1201 http://dx.doi.org/10.1093/hmg/3.7.1201 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/acer.12735 http://dx.doi.org/10.1111/acer.12735 DOI 10.1136/jmg.33.5.435 http://dx.doi.org/10.1136/jmg.33.5.435 DOI 10.1523/JNEUROSCI.2050-12.2012 http://dx.doi.org/10.1523/JNEUROSCI.2050-12.2012 DrugBank DB00145 http://www.drugbank.ca/drugs/DB00145 DrugBank DB00228 http://www.drugbank.ca/drugs/DB00228 DrugBank DB00431 http://www.drugbank.ca/drugs/DB00431 DrugBank DB00753 http://www.drugbank.ca/drugs/DB00753 DrugBank DB00898 http://www.drugbank.ca/drugs/DB00898 DrugBank DB01028 http://www.drugbank.ca/drugs/DB01028 DrugBank DB01159 http://www.drugbank.ca/drugs/DB01159 DrugBank DB01189 http://www.drugbank.ca/drugs/DB01189 DrugBank DB01236 http://www.drugbank.ca/drugs/DB01236 DrugBank DB01381 http://www.drugbank.ca/drugs/DB01381 EMBL AK312702 http://www.ebi.ac.uk/ena/data/view/AK312702 EMBL BC074980 http://www.ebi.ac.uk/ena/data/view/BC074980 EMBL BC114947 http://www.ebi.ac.uk/ena/data/view/BC114947 EMBL CH471062 http://www.ebi.ac.uk/ena/data/view/CH471062 EMBL X52009 http://www.ebi.ac.uk/ena/data/view/X52009 Ensembl ENST00000274576 http://www.ensembl.org/id/ENST00000274576 Ensembl ENST00000455880 http://www.ensembl.org/id/ENST00000455880 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0009897 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009897 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0030425 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030425 GO_component GO:0034707 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034707 GO_component GO:0043005 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043005 GO_component GO:0043025 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043025 GO_component GO:0043204 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043204 GO_component GO:0043231 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043231 GO_component GO:0045202 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045202 GO_component GO:0045211 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045211 GO_component GO:0060077 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060077 GO_function GO:0008270 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008270 GO_function GO:0016594 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016594 GO_function GO:0016934 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016934 GO_function GO:0022824 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022824 GO_function GO:0030977 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030977 GO_process GO:0001508 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001508 GO_process GO:0001964 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001964 GO_process GO:0002087 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002087 GO_process GO:0006811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006811 GO_process GO:0006821 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006821 GO_process GO:0006936 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006936 GO_process GO:0007218 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007218 GO_process GO:0007340 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007340 GO_process GO:0007601 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007601 GO_process GO:0007628 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007628 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0042391 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042391 GO_process GO:0050884 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050884 GO_process GO:0051260 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051260 GO_process GO:0051291 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051291 GO_process GO:0051970 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051970 GO_process GO:0060012 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060012 GO_process GO:0060013 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060013 GO_process GO:0060080 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060080 GO_process GO:0071230 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071230 GO_process GO:0071294 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071294 GO_process GO:0071361 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071361 GO_process GO:0097305 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097305 GO_process GO:1902476 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902476 GO_process GO:2000344 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000344 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 2.70.170.10 http://www.cathdb.info/version/latest/superfamily/2.70.170.10 GeneCards GLRA1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=GLRA1 GeneID 2741 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=2741 GeneTree ENSGT00760000118821 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118821 HGNC HGNC:4326 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:4326 HOGENOM HOG000231336 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231336&db=HOGENOM6 HOVERGEN HBG051707 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG051707&db=HOVERGEN HPA HPA016502 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA016502 InParanoid P23415 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P23415 IntAct P23415 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P23415* InterPro IPR006028 http://www.ebi.ac.uk/interpro/entry/IPR006028 InterPro IPR006029 http://www.ebi.ac.uk/interpro/entry/IPR006029 InterPro IPR006201 http://www.ebi.ac.uk/interpro/entry/IPR006201 InterPro IPR006202 http://www.ebi.ac.uk/interpro/entry/IPR006202 InterPro IPR008127 http://www.ebi.ac.uk/interpro/entry/IPR008127 InterPro IPR008128 http://www.ebi.ac.uk/interpro/entry/IPR008128 InterPro IPR018000 http://www.ebi.ac.uk/interpro/entry/IPR018000 Jabion 2741 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=2741 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00769 http://www.genome.jp/dbget-bin/www_bget?H00769 KEGG_Gene hsa:2741 http://www.genome.jp/dbget-bin/www_bget?hsa:2741 KEGG_Orthology KO:K05193 http://www.genome.jp/dbget-bin/www_bget?KO:K05193 KEGG_Pathway ko04080 http://www.genome.jp/kegg-bin/show_pathway?ko04080 MIM 138491 http://www.ncbi.nlm.nih.gov/omim/138491 MIM 149400 http://www.ncbi.nlm.nih.gov/omim/149400 OMA FNFAYGM http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=FNFAYGM Orphanet 3197 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=3197 OrthoDB EOG091G0805 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0805 PANTHER PTHR18945 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR18945 PDB 1MOT http://www.ebi.ac.uk/pdbe-srv/view/entry/1MOT PDB 1VRY http://www.ebi.ac.uk/pdbe-srv/view/entry/1VRY PDB 2M6B http://www.ebi.ac.uk/pdbe-srv/view/entry/2M6B PDB 2M6I http://www.ebi.ac.uk/pdbe-srv/view/entry/2M6I PDB 4X5T http://www.ebi.ac.uk/pdbe-srv/view/entry/4X5T PDBsum 1MOT http://www.ebi.ac.uk/pdbsum/1MOT PDBsum 1VRY http://www.ebi.ac.uk/pdbsum/1VRY PDBsum 2M6B http://www.ebi.ac.uk/pdbsum/2M6B PDBsum 2M6I http://www.ebi.ac.uk/pdbsum/2M6I PDBsum 4X5T http://www.ebi.ac.uk/pdbsum/4X5T PRINTS PR00252 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00252 PRINTS PR00253 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00253 PRINTS PR01673 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01673 PRINTS PR01674 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01674 PROSITE PS00236 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00236 PSORT swissprot:GLRA1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:GLRA1_HUMAN PSORT-B swissprot:GLRA1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:GLRA1_HUMAN PSORT2 swissprot:GLRA1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:GLRA1_HUMAN Pfam PF02931 http://pfam.xfam.org/family/PF02931 Pfam PF02932 http://pfam.xfam.org/family/PF02932 PharmGKB PA28727 http://www.pharmgkb.org/do/serve?objId=PA28727&objCls=Gene Phobius swissprot:GLRA1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:GLRA1_HUMAN PhylomeDB P23415 http://phylomedb.org/?seqid=P23415 ProteinModelPortal P23415 http://www.proteinmodelportal.org/query/uniprot/P23415 PubMed 10514101 http://www.ncbi.nlm.nih.gov/pubmed/10514101 PubMed 12667090 http://www.ncbi.nlm.nih.gov/pubmed/12667090 PubMed 14551753 http://www.ncbi.nlm.nih.gov/pubmed/14551753 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15952785 http://www.ncbi.nlm.nih.gov/pubmed/15952785 PubMed 16144831 http://www.ncbi.nlm.nih.gov/pubmed/16144831 PubMed 19861413 http://www.ncbi.nlm.nih.gov/pubmed/19861413 PubMed 2155780 http://www.ncbi.nlm.nih.gov/pubmed/2155780 PubMed 22715885 http://www.ncbi.nlm.nih.gov/pubmed/22715885 PubMed 22973015 http://www.ncbi.nlm.nih.gov/pubmed/22973015 PubMed 23994010 http://www.ncbi.nlm.nih.gov/pubmed/23994010 PubMed 24108130 http://www.ncbi.nlm.nih.gov/pubmed/24108130 PubMed 25445488 http://www.ncbi.nlm.nih.gov/pubmed/25445488 PubMed 25730860 http://www.ncbi.nlm.nih.gov/pubmed/25730860 PubMed 25973519 http://www.ncbi.nlm.nih.gov/pubmed/25973519 PubMed 7611730 http://www.ncbi.nlm.nih.gov/pubmed/7611730 PubMed 7881416 http://www.ncbi.nlm.nih.gov/pubmed/7881416 PubMed 7920629 http://www.ncbi.nlm.nih.gov/pubmed/7920629 PubMed 7925268 http://www.ncbi.nlm.nih.gov/pubmed/7925268 PubMed 7981700 http://www.ncbi.nlm.nih.gov/pubmed/7981700 PubMed 8298642 http://www.ncbi.nlm.nih.gov/pubmed/8298642 PubMed 8571969 http://www.ncbi.nlm.nih.gov/pubmed/8571969 PubMed 8733061 http://www.ncbi.nlm.nih.gov/pubmed/8733061 PubMed 9009272 http://www.ncbi.nlm.nih.gov/pubmed/9009272 PubMed 9067762 http://www.ncbi.nlm.nih.gov/pubmed/9067762 PubMed 9920650 http://www.ncbi.nlm.nih.gov/pubmed/9920650 Reactome R-HSA-975298 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-975298 RefSeq NP_000162 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000162 RefSeq NP_001139512 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001139512 SMR P23415 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P23415 STRING 9606.ENSP00000411593 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000411593&targetmode=cogs SUPFAM SSF63712 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF63712 SUPFAM SSF90112 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF90112 TCDB 1.A.9.3 http://www.tcdb.org/search/result.php?tc=1.A.9.3 TIGRFAMs TIGR00860 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00860 UCSC uc003lur http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003lur&org=rat UniGene Hs.121490 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.121490 UniProtKB GLRA1_HUMAN http://www.uniprot.org/uniprot/GLRA1_HUMAN UniProtKB-AC P23415 http://www.uniprot.org/uniprot/P23415 charge swissprot:GLRA1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:GLRA1_HUMAN eggNOG ENOG410XPWH http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XPWH eggNOG KOG3643 http://eggnogapi.embl.de/nog_data/html/tree/KOG3643 epestfind swissprot:GLRA1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:GLRA1_HUMAN garnier swissprot:GLRA1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:GLRA1_HUMAN helixturnhelix swissprot:GLRA1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:GLRA1_HUMAN hmoment swissprot:GLRA1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:GLRA1_HUMAN iep swissprot:GLRA1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:GLRA1_HUMAN inforesidue swissprot:GLRA1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:GLRA1_HUMAN neXtProt NX_P23415 http://www.nextprot.org/db/entry/NX_P23415 octanol swissprot:GLRA1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:GLRA1_HUMAN pepcoil swissprot:GLRA1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:GLRA1_HUMAN pepdigest swissprot:GLRA1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:GLRA1_HUMAN pepinfo swissprot:GLRA1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:GLRA1_HUMAN pepnet swissprot:GLRA1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:GLRA1_HUMAN pepstats swissprot:GLRA1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:GLRA1_HUMAN pepwheel swissprot:GLRA1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:GLRA1_HUMAN pepwindow swissprot:GLRA1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:GLRA1_HUMAN sigcleave swissprot:GLRA1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:GLRA1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S26A1_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9H2B4-1; Sequence=Displayed; Name=2; IsoId=Q9H2B4-2; Sequence=VSP_043671, VSP_043672; Note=No experimental confirmation available.; # AltName S26A1_HUMAN Solute carrier family 26 member 1 # CCDS CCDS33933 -. [Q9H2B4-2] # CCDS CCDS33934 -. [Q9H2B4-1] # ChiTaRS SLC26A1 human # Ensembl ENST00000361661 ENSP00000354721; ENSG00000145217. [Q9H2B4-1] # Ensembl ENST00000398516 ENSP00000381528; ENSG00000145217. [Q9H2B4-1] # Ensembl ENST00000398520 ENSP00000381532; ENSG00000145217. [Q9H2B4-2] # Ensembl ENST00000622731 ENSP00000483506; ENSG00000145217. [Q9H2B4-2] # FUNCTION S26A1_HUMAN High affinity uptake of sulfate. Accepts oxalate, but not succinate as a cosubstrate. Mediates sulfate and oxalate transport. {ECO 0000269|PubMed 12713736}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0016021 integral component of membrane; TAS:UniProtKB. # GO_function GO:0005254 chloride channel activity; IBA:GO_Central. # GO_function GO:0008271 secondary active sulfate transmembrane transporter activity; IEA:InterPro. # GO_function GO:0015106 bicarbonate transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015108 chloride transmembrane transporter activity; ISS:UniProtKB. # GO_function GO:0015116 sulfate transmembrane transporter activity; ISS:UniProtKB. # GO_function GO:0019531 oxalate transmembrane transporter activity; ISS:UniProtKB. # GO_function S26A1_HUMAN GO 0015301 anion anion antiporter activity; ISS UniProtKB. # GO_process GO:0006811 ion transport; TAS:Reactome. # GO_process GO:0006821 chloride transport; ISS:UniProtKB. # GO_process GO:0008272 sulfate transport; ISS:UniProtKB. # GO_process GO:0015701 bicarbonate transport; IBA:GO_Central. # GO_process GO:0019532 oxalate transport; ISS:UniProtKB. # GO_process GO:0042391 regulation of membrane potential; IBA:GO_Central. # GO_process GO:0050428 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process; TAS:Reactome. # GO_process GO:0051453 regulation of intracellular pH; IBA:GO_Central. # GO_process GO:1902476 chloride transmembrane transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006790 sulfur compound metabolic process # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0044281 small molecule metabolic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 3.30.750.24 -; 2. # Genevisible Q9H2B4 HS # HGNC HGNC:10993 SLC26A1 # InterPro IPR001902 SLC26A/SulP_fam # InterPro IPR002645 STAS_dom # InterPro IPR011547 SLC26A/SulP_dom # InterPro IPR018045 S04_transporter_CS # InterPro IPR030331 SLC26A1 # KEGG_Brite ko02001 Solute carrier family # MIM 610130 gene # Organism S26A1_HUMAN Homo sapiens (Human) # PANTHER PTHR11814 PTHR11814; 2 # PANTHER PTHR11814:SF31 PTHR11814:SF31; 2 # PROSITE PS01130 SLC26A # PROSITE PS50801 STAS # Pfam PF00916 Sulfate_transp # Pfam PF01740 STAS # Proteomes UP000005640 Chromosome 4 # Reactome R-HSA-174362 Transport and synthesis of PAPS # Reactome R-HSA-427601 Multifunctional anion exchangers # RecName S26A1_HUMAN Sulfate anion transporter 1 # RefSeq NP_071325 NM_022042.3. [Q9H2B4-1] # RefSeq NP_602297 NM_134425.2. [Q9H2B4-2] # RefSeq NP_998778 NM_213613.3. [Q9H2B4-1] # SIMILARITY Belongs to the SLC26A/SulP transporter (TC 2.A.53) family. {ECO 0000305}. # SIMILARITY Contains 1 STAS domain. {ECO:0000255|PROSITE- ProRule PRU00198}. # SUBCELLULAR LOCATION S26A1_HUMAN Membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. # SUPFAM SSF52091 SSF52091; 2 # TCDB 2.A.53.2.16 the sulfate permease (sulp) family # TIGRFAMs TIGR00815 sulP # TISSUE SPECIFICITY Expressed most abundantly in the kidney and liver, with lower levels in the pancreas, testis, brain, small intestine, colon, and lung. {ECO:0000269|PubMed 12713736}. # UCSC uc003gbx human. [Q9H2B4-1] # eggNOG COG0659 LUCA # eggNOG KOG0236 Eukaryota BLAST swissprot:S26A1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S26A1_HUMAN BioCyc ZFISH:ENSG00000145217-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000145217-MONOMER COXPRESdb 10861 http://coxpresdb.jp/data/gene/10861.shtml CleanEx HS_SAT1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SAT1 CleanEx HS_SLC26A1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC26A1 DOI 10.1006/geno.2000.6355 http://dx.doi.org/10.1006/geno.2000.6355 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1089/104454903321515913 http://dx.doi.org/10.1089/104454903321515913 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AC019103 http://www.ebi.ac.uk/ena/data/view/AC019103 EMBL AF297659 http://www.ebi.ac.uk/ena/data/view/AF297659 EMBL AK292747 http://www.ebi.ac.uk/ena/data/view/AK292747 EMBL AY124771 http://www.ebi.ac.uk/ena/data/view/AY124771 EMBL BC015517 http://www.ebi.ac.uk/ena/data/view/BC015517 EMBL CH471131 http://www.ebi.ac.uk/ena/data/view/CH471131 EMBL CH471131 http://www.ebi.ac.uk/ena/data/view/CH471131 Ensembl ENST00000361661 http://www.ensembl.org/id/ENST00000361661 Ensembl ENST00000398516 http://www.ensembl.org/id/ENST00000398516 Ensembl ENST00000398520 http://www.ensembl.org/id/ENST00000398520 Ensembl ENST00000622731 http://www.ensembl.org/id/ENST00000622731 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005254 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005254 GO_function GO:0008271 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008271 GO_function GO:0015106 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015106 GO_function GO:0015108 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015108 GO_function GO:0015116 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015116 GO_function GO:0015301 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015301 GO_function GO:0019531 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019531 GO_process GO:0006811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006811 GO_process GO:0006821 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006821 GO_process GO:0008272 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008272 GO_process GO:0015701 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015701 GO_process GO:0019532 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019532 GO_process GO:0042391 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042391 GO_process GO:0050428 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050428 GO_process GO:0051453 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051453 GO_process GO:1902476 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902476 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006790 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006790 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 3.30.750.24 http://www.cathdb.info/version/latest/superfamily/3.30.750.24 GeneCards SLC26A1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC26A1 GeneID 10861 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=10861 GeneTree ENSGT00760000119026 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119026 HGNC HGNC:10993 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10993 HOGENOM HOG000006546 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000006546&db=HOGENOM6 HOVERGEN HBG000639 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG000639&db=HOVERGEN HPA HPA041654 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA041654 InParanoid Q9H2B4 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9H2B4 InterPro IPR001902 http://www.ebi.ac.uk/interpro/entry/IPR001902 InterPro IPR002645 http://www.ebi.ac.uk/interpro/entry/IPR002645 InterPro IPR011547 http://www.ebi.ac.uk/interpro/entry/IPR011547 InterPro IPR018045 http://www.ebi.ac.uk/interpro/entry/IPR018045 InterPro IPR030331 http://www.ebi.ac.uk/interpro/entry/IPR030331 Jabion 10861 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=10861 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:10861 http://www.genome.jp/dbget-bin/www_bget?hsa:10861 KEGG_Orthology KO:K14700 http://www.genome.jp/dbget-bin/www_bget?KO:K14700 MIM 610130 http://www.ncbi.nlm.nih.gov/omim/610130 OMA LPAFLHC http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=LPAFLHC OrthoDB EOG091G07RT http://cegg.unige.ch/orthodb/results?searchtext=EOG091G07RT PANTHER PTHR11814 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11814 PANTHER PTHR11814:SF31 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11814:SF31 PROSITE PS01130 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS01130 PROSITE PS50801 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50801 PSORT swissprot:S26A1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S26A1_HUMAN PSORT-B swissprot:S26A1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S26A1_HUMAN PSORT2 swissprot:S26A1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S26A1_HUMAN Pfam PF00916 http://pfam.xfam.org/family/PF00916 Pfam PF01740 http://pfam.xfam.org/family/PF01740 PharmGKB PA400 http://www.pharmgkb.org/do/serve?objId=PA400&objCls=Gene Phobius swissprot:S26A1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S26A1_HUMAN PhylomeDB Q9H2B4 http://phylomedb.org/?seqid=Q9H2B4 ProteinModelPortal Q9H2B4 http://www.proteinmodelportal.org/query/uniprot/Q9H2B4 PubMed 11087667 http://www.ncbi.nlm.nih.gov/pubmed/11087667 PubMed 12713736 http://www.ncbi.nlm.nih.gov/pubmed/12713736 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 Reactome R-HSA-174362 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-174362 Reactome R-HSA-427601 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-427601 RefSeq NP_071325 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_071325 RefSeq NP_602297 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_602297 RefSeq NP_998778 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_998778 STRING 9606.ENSP00000354721 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000354721&targetmode=cogs SUPFAM SSF52091 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52091 TCDB 2.A.53.2.16 http://www.tcdb.org/search/result.php?tc=2.A.53.2.16 TIGRFAMs TIGR00815 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00815 UCSC uc003gbx http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003gbx&org=rat UniGene Hs.658244 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.658244 UniProtKB S26A1_HUMAN http://www.uniprot.org/uniprot/S26A1_HUMAN UniProtKB-AC Q9H2B4 http://www.uniprot.org/uniprot/Q9H2B4 charge swissprot:S26A1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S26A1_HUMAN eggNOG COG0659 http://eggnogapi.embl.de/nog_data/html/tree/COG0659 eggNOG KOG0236 http://eggnogapi.embl.de/nog_data/html/tree/KOG0236 epestfind swissprot:S26A1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S26A1_HUMAN garnier swissprot:S26A1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S26A1_HUMAN helixturnhelix swissprot:S26A1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S26A1_HUMAN hmoment swissprot:S26A1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S26A1_HUMAN iep swissprot:S26A1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S26A1_HUMAN inforesidue swissprot:S26A1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S26A1_HUMAN neXtProt NX_Q9H2B4 http://www.nextprot.org/db/entry/NX_Q9H2B4 octanol swissprot:S26A1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S26A1_HUMAN pepcoil swissprot:S26A1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S26A1_HUMAN pepdigest swissprot:S26A1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S26A1_HUMAN pepinfo swissprot:S26A1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S26A1_HUMAN pepnet swissprot:S26A1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S26A1_HUMAN pepstats swissprot:S26A1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S26A1_HUMAN pepwheel swissprot:S26A1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S26A1_HUMAN pepwindow swissprot:S26A1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S26A1_HUMAN sigcleave swissprot:S26A1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S26A1_HUMAN ## Database ID URL or Descriptions # AltName VATE2_HUMAN Vacuolar proton pump subunit E 2 # BioGrid 124715 4 # Ensembl ENST00000306448 ENSP00000304891; ENSG00000250565 # Ensembl ENST00000522587 ENSP00000428141; ENSG00000250565 # ExpressionAtlas Q96A05 baseline and differential # FUNCTION VATE2_HUMAN Subunit of the peripheral V1 complex of vacuolar ATPase essential for assembly or catalytic function. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. This isoform is essential for energy coupling involved in acidification of acrosome (By similarity). {ECO 0000250}. # GO_component GO:0001669 acrosomal vesicle; IEA:Ensembl. # GO_component GO:0005829 cytosol; TAS:Reactome. # GO_component GO:0033178 proton-transporting two-sector ATPase complex, catalytic domain; IEA:InterPro. # GO_function GO:0008553 hydrogen-exporting ATPase activity, phosphorylative mechanism; IEA:Ensembl. # GO_function GO:0046961 proton-transporting ATPase activity, rotational mechanism; IEA:InterPro. # GO_process GO:0008286 insulin receptor signaling pathway; TAS:Reactome. # GO_process GO:0015991 ATP hydrolysis coupled proton transport; IEA:Ensembl. # GO_process GO:0016241 regulation of macroautophagy; NAS:ParkinsonsUK-UCL. # GO_process GO:0033572 transferrin transport; TAS:Reactome. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0090383 phagosome acidification; TAS:Reactome. # GOslim_component GO:0005829 cytosol # GOslim_component GO:0031410 cytoplasmic vesicle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Genevisible Q96A05 HS # HAMAP MF_00311 ATP_synth_E_arch # HGNC HGNC:18125 ATP6V1E2 # INTERACTION VATE2_HUMAN O75348 ATP6V1G1; NbExp=6; IntAct=EBI-8650380, EBI-711802; Q9BUW7 C9orf16; NbExp=3; IntAct=EBI-8650380, EBI-752084; # IntAct Q96A05 2 # InterPro IPR002842 ATPase_V1/A1-cplx_esu # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Brite ko01000 Enzymes # KEGG_Pathway ko00190 Oxidative phosphorylation # KEGG_Pathway ko04145 Phagosome # KEGG_Pathway ko04721 Synaptic vesicle cycle # KEGG_Pathway ko04966 Collecting duct acid secretion # KEGG_Pathway ko05110 Vibrio cholerae infection # KEGG_Pathway ko05120 Epithelial cell signaling in Helicobacter pylori infection # KEGG_Pathway ko05323 Rheumatoid arthritis # Organism VATE2_HUMAN Homo sapiens (Human) # Pfam PF01991 vATP-synt_E # Proteomes UP000005640 Chromosome 2 # Reactome R-HSA-1222556 ROS, RNS production in response to bacteria # Reactome R-HSA-77387 Insulin receptor recycling # Reactome R-HSA-917977 Transferrin endocytosis and recycling # Reactome R-HSA-983712 Ion channel transport # RecName VATE2_HUMAN V-type proton ATPase subunit E 2 # RefSeq NP_001304992 NM_001318063.1 # RefSeq XP_005264690 XM_005264633.2 # RefSeq XP_005264691 XM_005264634.2 # RefSeq XP_011531450 XM_011533148.2 # RefSeq XP_011531451 XM_011533149.2 # RefSeq XP_011531452 XM_011533150.2 # RefSeq XP_011531453 XM_011533151.2 # RefSeq XP_011531454 XM_011533152.2 # RefSeq XP_011531455 XM_011533153.2 # RefSeq XP_016860714 XM_017005225.1 # RefSeq XP_016860715 XM_017005226.1 # SIMILARITY Belongs to the V-ATPase E subunit family. {ECO 0000305}. # SUBUNIT V-ATPase is a heteromultimeric enzyme composed of a peripheral catalytic V1 complex (components A to H) attached to an integral membrane V0 proton pore complex (components a, c, c', c'' and d). # TISSUE SPECIFICITY Testis specific. {ECO:0000269|PubMed 12036578}. # UCSC uc002ruy human # eggNOG COG1390 LUCA # eggNOG KOG1664 Eukaryota BLAST swissprot:VATE2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:VATE2_HUMAN BioCyc MetaCyc:HS10256-MONOMER http://biocyc.org/getid?id=MetaCyc:HS10256-MONOMER BioCyc ZFISH:HS10256-MONOMER http://biocyc.org/getid?id=ZFISH:HS10256-MONOMER COG COG1390 http://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=COG1390 COXPRESdb 90423 http://coxpresdb.jp/data/gene/90423.shtml CleanEx HS_ATP6V1E2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ATP6V1E2 DOI 10.1016/S0378-1119(02)00542-5 http://dx.doi.org/10.1016/S0378-1119(02)00542-5 DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AB074759 http://www.ebi.ac.uk/ena/data/view/AB074759 EMBL AC018682 http://www.ebi.ac.uk/ena/data/view/AC018682 EMBL AK058055 http://www.ebi.ac.uk/ena/data/view/AK058055 EMBL BC008981 http://www.ebi.ac.uk/ena/data/view/BC008981 EMBL BC034808 http://www.ebi.ac.uk/ena/data/view/BC034808 Ensembl ENST00000306448 http://www.ensembl.org/id/ENST00000306448 Ensembl ENST00000522587 http://www.ensembl.org/id/ENST00000522587 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0001669 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001669 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0033178 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033178 GO_function GO:0008553 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008553 GO_function GO:0046961 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046961 GO_process GO:0008286 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008286 GO_process GO:0015991 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015991 GO_process GO:0016241 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016241 GO_process GO:0033572 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033572 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0090383 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090383 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0031410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards ATP6V1E2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ATP6V1E2 GeneID 90423 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=90423 GeneTree ENSGT00390000002730 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000002730 HAMAP MF_00311 http://hamap.expasy.org/unirule/MF_00311 HGNC HGNC:18125 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:18125 HOGENOM HOG000202506 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000202506&db=HOGENOM6 HOVERGEN HBG002309 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG002309&db=HOVERGEN HPA HPA052784 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA052784 InParanoid Q96A05 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q96A05 IntAct Q96A05 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q96A05* InterPro IPR002842 http://www.ebi.ac.uk/interpro/entry/IPR002842 Jabion 90423 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=90423 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00002 http://www.genome.jp/dbget-bin/www_bget?ko00002 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Gene hsa:90423 http://www.genome.jp/dbget-bin/www_bget?hsa:90423 KEGG_Orthology KO:K02150 http://www.genome.jp/dbget-bin/www_bget?KO:K02150 KEGG_Pathway ko00190 http://www.genome.jp/kegg-bin/show_pathway?ko00190 KEGG_Pathway ko04145 http://www.genome.jp/kegg-bin/show_pathway?ko04145 KEGG_Pathway ko04721 http://www.genome.jp/kegg-bin/show_pathway?ko04721 KEGG_Pathway ko04966 http://www.genome.jp/kegg-bin/show_pathway?ko04966 KEGG_Pathway ko05110 http://www.genome.jp/kegg-bin/show_pathway?ko05110 KEGG_Pathway ko05120 http://www.genome.jp/kegg-bin/show_pathway?ko05120 KEGG_Pathway ko05323 http://www.genome.jp/kegg-bin/show_pathway?ko05323 OMA RNDLISD http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=RNDLISD OrthoDB EOG091G0OGO http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0OGO PSORT swissprot:VATE2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:VATE2_HUMAN PSORT-B swissprot:VATE2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:VATE2_HUMAN PSORT2 swissprot:VATE2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:VATE2_HUMAN Pfam PF01991 http://pfam.xfam.org/family/PF01991 PharmGKB PA25159 http://www.pharmgkb.org/do/serve?objId=PA25159&objCls=Gene Phobius swissprot:VATE2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:VATE2_HUMAN PhylomeDB Q96A05 http://phylomedb.org/?seqid=Q96A05 ProteinModelPortal Q96A05 http://www.proteinmodelportal.org/query/uniprot/Q96A05 PubMed 12036578 http://www.ncbi.nlm.nih.gov/pubmed/12036578 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 Reactome R-HSA-1222556 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1222556 Reactome R-HSA-77387 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-77387 Reactome R-HSA-917977 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-917977 Reactome R-HSA-983712 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-983712 RefSeq NP_001304992 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001304992 RefSeq XP_005264690 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005264690 RefSeq XP_005264691 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005264691 RefSeq XP_011531450 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011531450 RefSeq XP_011531451 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011531451 RefSeq XP_011531452 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011531452 RefSeq XP_011531453 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011531453 RefSeq XP_011531454 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011531454 RefSeq XP_011531455 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011531455 RefSeq XP_016860714 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016860714 RefSeq XP_016860715 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016860715 SMR Q96A05 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q96A05 STRING 9606.ENSP00000304891 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000304891&targetmode=cogs STRING COG1390 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=COG1390&targetmode=cogs UCSC uc002ruy http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002ruy&org=rat UniGene Hs.659656 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.659656 UniProtKB VATE2_HUMAN http://www.uniprot.org/uniprot/VATE2_HUMAN UniProtKB-AC Q96A05 http://www.uniprot.org/uniprot/Q96A05 charge swissprot:VATE2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:VATE2_HUMAN eggNOG COG1390 http://eggnogapi.embl.de/nog_data/html/tree/COG1390 eggNOG KOG1664 http://eggnogapi.embl.de/nog_data/html/tree/KOG1664 epestfind swissprot:VATE2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:VATE2_HUMAN garnier swissprot:VATE2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:VATE2_HUMAN helixturnhelix swissprot:VATE2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:VATE2_HUMAN hmoment swissprot:VATE2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:VATE2_HUMAN iep swissprot:VATE2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:VATE2_HUMAN inforesidue swissprot:VATE2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:VATE2_HUMAN neXtProt NX_Q96A05 http://www.nextprot.org/db/entry/NX_Q96A05 octanol swissprot:VATE2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:VATE2_HUMAN pepcoil swissprot:VATE2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:VATE2_HUMAN pepdigest swissprot:VATE2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:VATE2_HUMAN pepinfo swissprot:VATE2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:VATE2_HUMAN pepnet swissprot:VATE2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:VATE2_HUMAN pepstats swissprot:VATE2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:VATE2_HUMAN pepwheel swissprot:VATE2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:VATE2_HUMAN pepwindow swissprot:VATE2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:VATE2_HUMAN sigcleave swissprot:VATE2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:VATE2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS GRID1_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9ULK0-1; Sequence=Displayed; Name=2; IsoId=Q9ULK0-2; Sequence=VSP_057019; Note=No experimental confirmation available.; # BioGrid 109151 4 # CCDS CCDS31236 -. [Q9ULK0-1] # ChiTaRS GRID1 human # Ensembl ENST00000327946 ENSP00000330148; ENSG00000182771. [Q9ULK0-1] # ExpressionAtlas Q9ULK0 baseline and differential # FUNCTION GRID1_HUMAN Receptor for glutamate. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. The postsynaptic actions of Glu are mediated by a variety of receptors that are named according to their selective agonists. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0045211 postsynaptic membrane; IEA:UniProtKB-SubCell. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0004970 ionotropic glutamate receptor activity; IEA:InterPro. # GO_function GO:0005234 extracellular-glutamate-gated ion channel activity; IEA:InterPro. # GO_process GO:0035176 social behavior; ISS:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0043226 organelle # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0008150 biological_process # Genevisible Q9ULK0 HS # HGNC HGNC:4575 GRID1 # InterPro IPR001320 Iontro_rcpt # InterPro IPR001508 Iono_rcpt_met # InterPro IPR001828 ANF_lig-bd_rcpt # InterPro IPR019594 Glu/Gly-bd # InterPro IPR028082 Peripla_BP_I # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04080 Neuroactive ligand-receptor interaction # MIM 610659 gene # Organism GRID1_HUMAN Homo sapiens (Human) # PRINTS PR00177 NMDARECEPTOR # Pfam PF00060 Lig_chan # Pfam PF01094 ANF_receptor # Pfam PF10613 Lig_chan-Glu_bd # Proteomes UP000005640 Chromosome 10 # RecName GRID1_HUMAN Glutamate receptor ionotropic, delta-1 # RefSeq NP_060021 NM_017551.2. [Q9ULK0-1] # SIMILARITY Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. GRID1 subfamily. {ECO 0000305}. # SMART SM00079 PBPe # SMART SM00918 Lig_chan-Glu_bd # SUBCELLULAR LOCATION GRID1_HUMAN Cell membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. Cell junction, synapse, postsynaptic cell membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. # SUBUNIT Interacts with CBLN1, and more weakly with CBLN2. {ECO 0000250}. # SUPFAM SSF53822 SSF53822 # UCSC uc001kdl human. [Q9ULK0-1] # eggNOG ENOG410XQQV LUCA # eggNOG KOG1052 Eukaryota BLAST swissprot:GRID1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:GRID1_HUMAN BioCyc ZFISH:G66-31135-MONOMER http://biocyc.org/getid?id=ZFISH:G66-31135-MONOMER COXPRESdb 2894 http://coxpresdb.jp/data/gene/2894.shtml CleanEx HS_GRID1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_GRID1 DOI 10.1038/nature02462 http://dx.doi.org/10.1038/nature02462 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1093/dnares/6.5.337 http://dx.doi.org/10.1093/dnares/6.5.337 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AB033046 http://www.ebi.ac.uk/ena/data/view/AB033046 EMBL AC022028 http://www.ebi.ac.uk/ena/data/view/AC022028 EMBL AC073162 http://www.ebi.ac.uk/ena/data/view/AC073162 EMBL AC079955 http://www.ebi.ac.uk/ena/data/view/AC079955 EMBL AK127168 http://www.ebi.ac.uk/ena/data/view/AK127168 EMBL AK302192 http://www.ebi.ac.uk/ena/data/view/AK302192 EMBL AL451059 http://www.ebi.ac.uk/ena/data/view/AL451059 EMBL AL596135 http://www.ebi.ac.uk/ena/data/view/AL596135 EMBL AL683834 http://www.ebi.ac.uk/ena/data/view/AL683834 EMBL AL732479 http://www.ebi.ac.uk/ena/data/view/AL732479 EMBL AL844892 http://www.ebi.ac.uk/ena/data/view/AL844892 EMBL BC039263 http://www.ebi.ac.uk/ena/data/view/BC039263 EMBL CH471142 http://www.ebi.ac.uk/ena/data/view/CH471142 Ensembl ENST00000327946 http://www.ensembl.org/id/ENST00000327946 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0045211 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045211 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0004970 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004970 GO_function GO:0005234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005234 GO_process GO:0035176 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035176 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GeneCards GRID1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=GRID1 GeneID 2894 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=2894 GeneTree ENSGT00760000118920 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118920 HGNC HGNC:4575 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:4575 HOGENOM HOG000264260 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000264260&db=HOGENOM6 HOVERGEN HBG051840 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG051840&db=HOVERGEN InParanoid Q9ULK0 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9ULK0 InterPro IPR001320 http://www.ebi.ac.uk/interpro/entry/IPR001320 InterPro IPR001508 http://www.ebi.ac.uk/interpro/entry/IPR001508 InterPro IPR001828 http://www.ebi.ac.uk/interpro/entry/IPR001828 InterPro IPR019594 http://www.ebi.ac.uk/interpro/entry/IPR019594 InterPro IPR028082 http://www.ebi.ac.uk/interpro/entry/IPR028082 Jabion 2894 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=2894 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:2894 http://www.genome.jp/dbget-bin/www_bget?hsa:2894 KEGG_Orthology KO:K05206 http://www.genome.jp/dbget-bin/www_bget?KO:K05206 KEGG_Pathway ko04080 http://www.genome.jp/kegg-bin/show_pathway?ko04080 MIM 610659 http://www.ncbi.nlm.nih.gov/omim/610659 OMA MGRCDLT http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=MGRCDLT OrthoDB EOG091G010L http://cegg.unige.ch/orthodb/results?searchtext=EOG091G010L PRINTS PR00177 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00177 PSORT swissprot:GRID1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:GRID1_HUMAN PSORT-B swissprot:GRID1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:GRID1_HUMAN PSORT2 swissprot:GRID1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:GRID1_HUMAN Pfam PF00060 http://pfam.xfam.org/family/PF00060 Pfam PF01094 http://pfam.xfam.org/family/PF01094 Pfam PF10613 http://pfam.xfam.org/family/PF10613 PharmGKB PA28970 http://www.pharmgkb.org/do/serve?objId=PA28970&objCls=Gene Phobius swissprot:GRID1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:GRID1_HUMAN PhylomeDB Q9ULK0 http://phylomedb.org/?seqid=Q9ULK0 ProteinModelPortal Q9ULK0 http://www.proteinmodelportal.org/query/uniprot/Q9ULK0 PubMed 10574462 http://www.ncbi.nlm.nih.gov/pubmed/10574462 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15164054 http://www.ncbi.nlm.nih.gov/pubmed/15164054 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 RefSeq NP_060021 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_060021 SMART SM00079 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00079 SMART SM00918 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00918 SMR Q9ULK0 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9ULK0 STRING 9606.ENSP00000330148 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000330148&targetmode=cogs SUPFAM SSF53822 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF53822 UCSC uc001kdl http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001kdl&org=rat UniGene Hs.530653 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.530653 UniProtKB GRID1_HUMAN http://www.uniprot.org/uniprot/GRID1_HUMAN UniProtKB-AC Q9ULK0 http://www.uniprot.org/uniprot/Q9ULK0 charge swissprot:GRID1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:GRID1_HUMAN eggNOG ENOG410XQQV http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XQQV eggNOG KOG1052 http://eggnogapi.embl.de/nog_data/html/tree/KOG1052 epestfind swissprot:GRID1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:GRID1_HUMAN garnier swissprot:GRID1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:GRID1_HUMAN helixturnhelix swissprot:GRID1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:GRID1_HUMAN hmoment swissprot:GRID1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:GRID1_HUMAN iep swissprot:GRID1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:GRID1_HUMAN inforesidue swissprot:GRID1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:GRID1_HUMAN neXtProt NX_Q9ULK0 http://www.nextprot.org/db/entry/NX_Q9ULK0 octanol swissprot:GRID1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:GRID1_HUMAN pepcoil swissprot:GRID1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:GRID1_HUMAN pepdigest swissprot:GRID1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:GRID1_HUMAN pepinfo swissprot:GRID1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:GRID1_HUMAN pepnet swissprot:GRID1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:GRID1_HUMAN pepstats swissprot:GRID1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:GRID1_HUMAN pepwheel swissprot:GRID1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:GRID1_HUMAN pepwindow swissprot:GRID1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:GRID1_HUMAN sigcleave swissprot:GRID1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:GRID1_HUMAN ## Database ID URL or Descriptions # AltName GBRA4_HUMAN GABA(A) receptor subunit alpha-4 # BioGrid 108831 3 # DrugBank DB00186 Lorazepam # DrugBank DB00189 Ethchlorvynol # DrugBank DB00228 Enflurane # DrugBank DB00231 Temazepam # DrugBank DB00237 Butabarbital # DrugBank DB00241 Butalbital # DrugBank DB00273 Topiramate # DrugBank DB00292 Etomidate # DrugBank DB00306 Talbutal # DrugBank DB00312 Pentobarbital # DrugBank DB00334 Olanzapine # DrugBank DB00349 Clobazam # DrugBank DB00371 Meprobamate # DrugBank DB00402 Eszopiclone # DrugBank DB00404 Alprazolam # DrugBank DB00418 Secobarbital # DrugBank DB00475 Chlordiazepoxide # DrugBank DB00543 Amoxapine # DrugBank DB00599 Thiopental # DrugBank DB00628 Clorazepate # DrugBank DB00659 Acamprosate # DrugBank DB00683 Midazolam # DrugBank DB00690 Flurazepam # DrugBank DB00753 Isoflurane # DrugBank DB00794 Primidone # DrugBank DB00801 Halazepam # DrugBank DB00818 Propofol # DrugBank DB00829 Diazepam # DrugBank DB00842 Oxazepam # DrugBank DB00849 Methylphenobarbital # DrugBank DB00897 Triazolam # DrugBank DB00898 Ethanol # DrugBank DB01028 Methoxyflurane # DrugBank DB01049 Ergoloid mesylate # DrugBank DB01068 Clonazepam # DrugBank DB01107 Methyprylon # DrugBank DB01159 Halothane # DrugBank DB01189 Desflurane # DrugBank DB01205 Flumazenil # DrugBank DB01215 Estazolam # DrugBank DB01236 Sevoflurane # DrugBank DB01351 Amobarbital # DrugBank DB01352 Aprobarbital # DrugBank DB01353 Butethal # DrugBank DB01354 Heptabarbital # DrugBank DB01355 Hexobarbital # DrugBank DB01437 Glutethimide # DrugBank DB01544 Flunitrazepam # DrugBank DB01558 Bromazepam # DrugBank DB01588 Prazepam # DrugBank DB01589 Quazepam # DrugBank DB01595 Nitrazepam # Ensembl ENST00000264318 ENSP00000264318; ENSG00000109158 # ExpressionAtlas P48169 baseline and differential # FUNCTION GBRA4_HUMAN GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0034707 chloride channel complex; IEA:UniProtKB-KW. # GO_component GO:0045211 postsynaptic membrane; IEA:UniProtKB-SubCell. # GO_component GO:1902711 GABA-A receptor complex; IBA:GO_Central. # GO_function GO:0004890 GABA-A receptor activity; IEA:InterPro. # GO_function GO:0005230 extracellular ligand-gated ion channel activity; IEA:InterPro. # GO_function GO:0005254 chloride channel activity; IEA:UniProtKB-KW. # GO_function GO:0008503 benzodiazepine receptor activity; TAS:ProtInc. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0007214 gamma-aminobutyric acid signaling pathway; TAS:ProtInc. # GO_process GO:0007417 central nervous system development; IEA:Ensembl. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:2001023 regulation of response to drug; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0055085 transmembrane transport # Gene3D 2.70.170.10 -; 1. # Genevisible P48169 HS # HGNC HGNC:4078 GABRA4 # INDUCTION The alpha4 beta2 gamma 2L receptor is not repressed by diazepam. {ECO:0000269|PubMed 8719416}. # InterPro IPR001390 GABAAa_rcpt # InterPro IPR005434 GABBAa4_rcpt # InterPro IPR006028 GABAA/Glycine_rcpt # InterPro IPR006029 Neurotrans-gated_channel_TM # InterPro IPR006201 Neur_channel # InterPro IPR006202 Neur_chan_lig-bd # InterPro IPR018000 Neurotransmitter_ion_chnl_CS # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04080 Neuroactive ligand-receptor interaction # KEGG_Pathway ko04723 Retrograde endocannabinoid signaling # KEGG_Pathway ko04727 GABAergic synapse # KEGG_Pathway ko05032 Morphine addiction # KEGG_Pathway ko05033 Nicotine addiction # MIM 137141 gene # Organism GBRA4_HUMAN Homo sapiens (Human) # PANTHER PTHR18945 PTHR18945; 2 # PIR G01928 G01928 # PRINTS PR00252 NRIONCHANNEL # PRINTS PR00253 GABAARECEPTR # PRINTS PR01079 GABAARALPHA # PRINTS PR01617 GABAARALPHA4 # PROSITE PS00236 NEUROTR_ION_CHANNEL # Pfam PF02931 Neur_chan_LBD # Pfam PF02932 Neur_chan_memb # Proteomes UP000005640 Chromosome 4 # Reactome R-HSA-112314 Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell # Reactome R-HSA-975298 Ligand-gated ion channel transport # Reactome R-HSA-977441 GABA A receptor activation # RecName GBRA4_HUMAN Gamma-aminobutyric acid receptor subunit alpha-4 # RefSeq NP_000800 NM_000809.3 # RefSeq NP_001191195 NM_001204266.1 # RefSeq NP_001191196 NM_001204267.1 # SIMILARITY Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRA4 sub-subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION GBRA4_HUMAN Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. # SUBUNIT Generally pentameric. There are five types of GABA(A) receptor chains alpha, beta, gamma, delta, and rho. # SUPFAM SSF63712 SSF63712 # SUPFAM SSF90112 SSF90112; 2 # TIGRFAMs TIGR00860 LIC # WEB RESOURCE GBRA4_HUMAN Name=Protein Spotlight; Note=Forbidden fruit - Issue 56 of March 2005; URL="http //web.expasy.org/spotlight/back_issues/056"; # eggNOG ENOG410XNQG LUCA # eggNOG KOG3642 Eukaryota BLAST swissprot:GBRA4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:GBRA4_HUMAN BioCyc ZFISH:ENSG00000109158-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000109158-MONOMER COXPRESdb 2557 http://coxpresdb.jp/data/gene/2557.shtml CleanEx HS_GABRA4 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_GABRA4 DOI 10.1016/0888-7543(95)80178-O http://dx.doi.org/10.1016/0888-7543(95)80178-O DOI 10.1016/0922-4106(95)90072-1 http://dx.doi.org/10.1016/0922-4106(95)90072-1 DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1133427 http://dx.doi.org/10.1126/science.1133427 DrugBank DB00186 http://www.drugbank.ca/drugs/DB00186 DrugBank DB00189 http://www.drugbank.ca/drugs/DB00189 DrugBank DB00228 http://www.drugbank.ca/drugs/DB00228 DrugBank DB00231 http://www.drugbank.ca/drugs/DB00231 DrugBank DB00237 http://www.drugbank.ca/drugs/DB00237 DrugBank DB00241 http://www.drugbank.ca/drugs/DB00241 DrugBank DB00273 http://www.drugbank.ca/drugs/DB00273 DrugBank DB00292 http://www.drugbank.ca/drugs/DB00292 DrugBank DB00306 http://www.drugbank.ca/drugs/DB00306 DrugBank DB00312 http://www.drugbank.ca/drugs/DB00312 DrugBank DB00334 http://www.drugbank.ca/drugs/DB00334 DrugBank DB00349 http://www.drugbank.ca/drugs/DB00349 DrugBank DB00371 http://www.drugbank.ca/drugs/DB00371 DrugBank DB00402 http://www.drugbank.ca/drugs/DB00402 DrugBank DB00404 http://www.drugbank.ca/drugs/DB00404 DrugBank DB00418 http://www.drugbank.ca/drugs/DB00418 DrugBank DB00475 http://www.drugbank.ca/drugs/DB00475 DrugBank DB00543 http://www.drugbank.ca/drugs/DB00543 DrugBank DB00599 http://www.drugbank.ca/drugs/DB00599 DrugBank DB00628 http://www.drugbank.ca/drugs/DB00628 DrugBank DB00659 http://www.drugbank.ca/drugs/DB00659 DrugBank DB00683 http://www.drugbank.ca/drugs/DB00683 DrugBank DB00690 http://www.drugbank.ca/drugs/DB00690 DrugBank DB00753 http://www.drugbank.ca/drugs/DB00753 DrugBank DB00794 http://www.drugbank.ca/drugs/DB00794 DrugBank DB00801 http://www.drugbank.ca/drugs/DB00801 DrugBank DB00818 http://www.drugbank.ca/drugs/DB00818 DrugBank DB00829 http://www.drugbank.ca/drugs/DB00829 DrugBank DB00842 http://www.drugbank.ca/drugs/DB00842 DrugBank DB00849 http://www.drugbank.ca/drugs/DB00849 DrugBank DB00897 http://www.drugbank.ca/drugs/DB00897 DrugBank DB00898 http://www.drugbank.ca/drugs/DB00898 DrugBank DB01028 http://www.drugbank.ca/drugs/DB01028 DrugBank DB01049 http://www.drugbank.ca/drugs/DB01049 DrugBank DB01068 http://www.drugbank.ca/drugs/DB01068 DrugBank DB01107 http://www.drugbank.ca/drugs/DB01107 DrugBank DB01159 http://www.drugbank.ca/drugs/DB01159 DrugBank DB01189 http://www.drugbank.ca/drugs/DB01189 DrugBank DB01205 http://www.drugbank.ca/drugs/DB01205 DrugBank DB01215 http://www.drugbank.ca/drugs/DB01215 DrugBank DB01236 http://www.drugbank.ca/drugs/DB01236 DrugBank DB01351 http://www.drugbank.ca/drugs/DB01351 DrugBank DB01352 http://www.drugbank.ca/drugs/DB01352 DrugBank DB01353 http://www.drugbank.ca/drugs/DB01353 DrugBank DB01354 http://www.drugbank.ca/drugs/DB01354 DrugBank DB01355 http://www.drugbank.ca/drugs/DB01355 DrugBank DB01437 http://www.drugbank.ca/drugs/DB01437 DrugBank DB01544 http://www.drugbank.ca/drugs/DB01544 DrugBank DB01558 http://www.drugbank.ca/drugs/DB01558 DrugBank DB01588 http://www.drugbank.ca/drugs/DB01588 DrugBank DB01589 http://www.drugbank.ca/drugs/DB01589 DrugBank DB01595 http://www.drugbank.ca/drugs/DB01595 EMBL AC107383 http://www.ebi.ac.uk/ena/data/view/AC107383 EMBL AK090780 http://www.ebi.ac.uk/ena/data/view/AK090780 EMBL BC035055 http://www.ebi.ac.uk/ena/data/view/BC035055 EMBL CH471069 http://www.ebi.ac.uk/ena/data/view/CH471069 EMBL U20166 http://www.ebi.ac.uk/ena/data/view/U20166 EMBL U30461 http://www.ebi.ac.uk/ena/data/view/U30461 Ensembl ENST00000264318 http://www.ensembl.org/id/ENST00000264318 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0034707 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034707 GO_component GO:0045211 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045211 GO_component GO:1902711 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902711 GO_function GO:0004890 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004890 GO_function GO:0005230 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005230 GO_function GO:0005254 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005254 GO_function GO:0008503 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008503 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0007214 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007214 GO_process GO:0007417 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007417 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:2001023 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2001023 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 2.70.170.10 http://www.cathdb.info/version/latest/superfamily/2.70.170.10 GeneCards GABRA4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=GABRA4 GeneID 2557 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=2557 GeneTree ENSGT00760000119010 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119010 HGNC HGNC:4078 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:4078 HOGENOM HOG000231337 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231337&db=HOGENOM6 HOVERGEN HBG051707 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG051707&db=HOVERGEN InParanoid P48169 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P48169 IntAct P48169 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P48169* InterPro IPR001390 http://www.ebi.ac.uk/interpro/entry/IPR001390 InterPro IPR005434 http://www.ebi.ac.uk/interpro/entry/IPR005434 InterPro IPR006028 http://www.ebi.ac.uk/interpro/entry/IPR006028 InterPro IPR006029 http://www.ebi.ac.uk/interpro/entry/IPR006029 InterPro IPR006201 http://www.ebi.ac.uk/interpro/entry/IPR006201 InterPro IPR006202 http://www.ebi.ac.uk/interpro/entry/IPR006202 InterPro IPR018000 http://www.ebi.ac.uk/interpro/entry/IPR018000 Jabion 2557 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=2557 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:2557 http://www.genome.jp/dbget-bin/www_bget?hsa:2557 KEGG_Orthology KO:K05175 http://www.genome.jp/dbget-bin/www_bget?KO:K05175 KEGG_Pathway ko04080 http://www.genome.jp/kegg-bin/show_pathway?ko04080 KEGG_Pathway ko04723 http://www.genome.jp/kegg-bin/show_pathway?ko04723 KEGG_Pathway ko04727 http://www.genome.jp/kegg-bin/show_pathway?ko04727 KEGG_Pathway ko05032 http://www.genome.jp/kegg-bin/show_pathway?ko05032 KEGG_Pathway ko05033 http://www.genome.jp/kegg-bin/show_pathway?ko05033 MIM 137141 http://www.ncbi.nlm.nih.gov/omim/137141 OMA THANLNM http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=THANLNM OrthoDB EOG091G0805 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0805 PANTHER PTHR18945 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR18945 PRINTS PR00252 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00252 PRINTS PR00253 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00253 PRINTS PR01079 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01079 PRINTS PR01617 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01617 PROSITE PS00236 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00236 PSORT swissprot:GBRA4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:GBRA4_HUMAN PSORT-B swissprot:GBRA4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:GBRA4_HUMAN PSORT2 swissprot:GBRA4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:GBRA4_HUMAN Pfam PF02931 http://pfam.xfam.org/family/PF02931 Pfam PF02932 http://pfam.xfam.org/family/PF02932 PharmGKB PA28492 http://www.pharmgkb.org/do/serve?objId=PA28492&objCls=Gene Phobius swissprot:GBRA4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:GBRA4_HUMAN PhylomeDB P48169 http://phylomedb.org/?seqid=P48169 ProteinModelPortal P48169 http://www.proteinmodelportal.org/query/uniprot/P48169 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 PubMed 16959974 http://www.ncbi.nlm.nih.gov/pubmed/16959974 PubMed 7607683 http://www.ncbi.nlm.nih.gov/pubmed/7607683 PubMed 8719416 http://www.ncbi.nlm.nih.gov/pubmed/8719416 Reactome R-HSA-112314 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-112314 Reactome R-HSA-975298 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-975298 Reactome R-HSA-977441 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-977441 RefSeq NP_000800 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000800 RefSeq NP_001191195 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001191195 RefSeq NP_001191196 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001191196 SMR P48169 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P48169 STRING 9606.ENSP00000264318 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000264318&targetmode=cogs SUPFAM SSF63712 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF63712 SUPFAM SSF90112 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF90112 TIGRFAMs TIGR00860 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00860 UniGene Hs.248112 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.248112 UniProtKB GBRA4_HUMAN http://www.uniprot.org/uniprot/GBRA4_HUMAN UniProtKB-AC P48169 http://www.uniprot.org/uniprot/P48169 charge swissprot:GBRA4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:GBRA4_HUMAN eggNOG ENOG410XNQG http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XNQG eggNOG KOG3642 http://eggnogapi.embl.de/nog_data/html/tree/KOG3642 epestfind swissprot:GBRA4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:GBRA4_HUMAN garnier swissprot:GBRA4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:GBRA4_HUMAN helixturnhelix swissprot:GBRA4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:GBRA4_HUMAN hmoment swissprot:GBRA4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:GBRA4_HUMAN iep swissprot:GBRA4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:GBRA4_HUMAN inforesidue swissprot:GBRA4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:GBRA4_HUMAN neXtProt NX_P48169 http://www.nextprot.org/db/entry/NX_P48169 octanol swissprot:GBRA4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:GBRA4_HUMAN pepcoil swissprot:GBRA4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:GBRA4_HUMAN pepdigest swissprot:GBRA4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:GBRA4_HUMAN pepinfo swissprot:GBRA4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:GBRA4_HUMAN pepnet swissprot:GBRA4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:GBRA4_HUMAN pepstats swissprot:GBRA4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:GBRA4_HUMAN pepwheel swissprot:GBRA4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:GBRA4_HUMAN pepwindow swissprot:GBRA4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:GBRA4_HUMAN sigcleave swissprot:GBRA4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:GBRA4_HUMAN ## Database ID URL or Descriptions # AltName KCNN4_HUMAN IKCa1 # AltName KCNN4_HUMAN KCa3.1 # AltName KCNN4_HUMAN KCa4 # AltName KCNN4_HUMAN Putative Gardos channel # BioGrid 109984 6 # ChiTaRS KCNN4 human # DISEASE KCNN4_HUMAN Dehydrated hereditary stomatocytosis 2 (DHS2) [MIM 616689] An autosomal dominant hemolytic anemia characterized by primary erythrocyte dehydration. Erythrocytes exhibit decreased total cation and potassium content that are not accompanied by a proportional net gain of sodium and water. Affected individuals typically manifest mild to moderate compensated hemolytic anemia, with an increased erythrocyte mean corpuscular hemoglobin concentration and a decreased osmotic fragility, both of which reflect cellular dehydration. Their red cells exhibit a panel of various shape abnormalities such as elliptocytes, hemighosts, schizocytes, and very rare stomatocytic cells. Complications such as splenomegaly and cholelithiasis, resulting from increased red cell trapping in the spleen and elevated bilirubin levels, respectively, may occur. {ECO 0000269|PubMed 26148990, ECO 0000269|PubMed 26178367, ECO 0000269|PubMed 26198474}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DrugBank DB00228 Enflurane # DrugBank DB00257 Clotrimazole # DrugBank DB00468 Quinine # DrugBank DB00721 Procaine # DrugBank DB01110 Miconazole # DrugBank DB01159 Halothane # Ensembl ENST00000262888 ENSP00000262888; ENSG00000104783 # ExpressionAtlas O15554 baseline and differential # FUNCTION KCNN4_HUMAN Forms a voltage-independent potassium channel that is activated by intracellular calcium (PubMed 26148990). Activation is followed by membrane hyperpolarization which promotes calcium influx. Required for maximal calcium influx and proliferation during the reactivation of naive T-cells. The channel is blocked by clotrimazole and charybdotoxin but is insensitive to apamin (PubMed 17157250, PubMed 18796614). {ECO 0000269|PubMed 17157250, ECO 0000269|PubMed 18796614, ECO 0000269|PubMed 26148990}. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0008076 voltage-gated potassium channel complex; IC:BHF-UCL. # GO_component GO:0031982 vesicle; IDA:BHF-UCL. # GO_function GO:0005267 potassium channel activity; TAS:Reactome. # GO_function GO:0015269 calcium-activated potassium channel activity; IDA:UniProtKB. # GO_function GO:0016286 small conductance calcium-activated potassium channel activity; IEA:InterPro. # GO_function GO:0019903 protein phosphatase binding; IPI:BHF-UCL. # GO_process GO:0002376 immune system process; IEA:UniProtKB-KW. # GO_process GO:0006813 potassium ion transport; TAS:ProtInc. # GO_process GO:0006816 calcium ion transport; IDA:BHF-UCL. # GO_process GO:0006884 cell volume homeostasis; IEA:Ensembl. # GO_process GO:0006952 defense response; TAS:ProtInc. # GO_process GO:0030322 stabilization of membrane potential; IDA:BHF-UCL. # GO_process GO:0045332 phospholipid translocation; IEA:Ensembl. # GO_process GO:0046541 saliva secretion; IEA:Ensembl. # GO_process GO:0050714 positive regulation of protein secretion; IEA:Ensembl. # GO_process GO:0050862 positive regulation of T cell receptor signaling pathway; IDA:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0019899 enzyme binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0002376 immune system process # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0061024 membrane organization # Genevisible O15554 HS # HGNC HGNC:6293 KCNN4 # INDUCTION KCNN4_HUMAN Up-regulated by phorbol myristate acetate (PMA) and phytohemagglutinin (PHA) in T-cells. # IntAct O15554 2 # InterPro IPR004178 CaM-bd_dom # InterPro IPR013099 K_chnl_dom # InterPro IPR015449 K_chnl_Ca-activ_SK # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04970 Salivary secretion # KEGG_Pathway ko04974 Protein digestion and absorption # MIM 602754 gene # MIM 616689 phenotype # Organism KCNN4_HUMAN Homo sapiens (Human) # PANTHER PTHR10153 PTHR10153 # PTM KCNN4_HUMAN Phosphorylation at His-358 by NDKB activates the channel, and conversely it's dephosphorylation by PHPT1 inhibits the channel. {ECO 0000269|PubMed 17157250}. # Pfam PF02888 CaMBD # Pfam PF03530 SK_channel # Pfam PF07885 Ion_trans_2 # Proteomes UP000005640 Chromosome 19 # Reactome R-HSA-1296052 Ca2+ activated K+ channels # RecName KCNN4_HUMAN Intermediate conductance calcium-activated potassium channel protein 4 # RefSeq NP_002241 NM_002250.2 # SIMILARITY Belongs to the potassium channel KCNN family. KCa3.1/KCNN4 subfamily. {ECO 0000305}. # SMART SM01053 CaMBD # SUBCELLULAR LOCATION KCNN4_HUMAN Cell membrane {ECO 0000269|PubMed 26148990}; Multi-pass membrane protein {ECO 0000255}. # SUBUNIT KCNN4_HUMAN Heterotetramer of potassium channel proteins (Probable). Interacts with MTMR6. {ECO 0000269|PubMed 10026195, ECO 0000269|PubMed 15831468, ECO 0000305}. # SUPFAM SSF81327 SSF81327 # TCDB 1.A.1.16 the voltage-gated ion channel (vic) superfamily # TISSUE SPECIFICITY KCNN4_HUMAN Widely expressed in non-excitable tissues. # UCSC uc002oxl human # eggNOG ENOG410XT9D LUCA # eggNOG KOG3684 Eukaryota BLAST swissprot:KCNN4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCNN4_HUMAN BioCyc ZFISH:ENSG00000104783-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000104783-MONOMER COXPRESdb 3783 http://coxpresdb.jp/data/gene/3783.shtml CleanEx HS_KCNN4 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNN4 DIP DIP-48598N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-48598N DOI 10.1002/ajh.24117 http://dx.doi.org/10.1002/ajh.24117 DOI 10.1006/geno.1998.5333 http://dx.doi.org/10.1006/geno.1998.5333 DOI 10.1016/j.molcel.2006.11.012 http://dx.doi.org/10.1016/j.molcel.2006.11.012 DOI 10.1073/pnas.0803678105 http://dx.doi.org/10.1073/pnas.0803678105 DOI 10.1073/pnas.1210303109 http://dx.doi.org/10.1073/pnas.1210303109 DOI 10.1073/pnas.94.20.11013 http://dx.doi.org/10.1073/pnas.94.20.11013 DOI 10.1073/pnas.94.21.11651 http://dx.doi.org/10.1073/pnas.94.21.11651 DOI 10.1074/jbc.272.52.32723 http://dx.doi.org/10.1074/jbc.272.52.32723 DOI 10.1074/jbc.274.9.5746 http://dx.doi.org/10.1074/jbc.274.9.5746 DOI 10.1074/jbc.M003941200 http://dx.doi.org/10.1074/jbc.M003941200 DOI 10.1074/jbc.M105231200 http://dx.doi.org/10.1074/jbc.M105231200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1128/MCB.25.9.3630-3638.2005 http://dx.doi.org/10.1128/MCB.25.9.3630-3638.2005 DOI 10.1182/blood-2015-04-642496 http://dx.doi.org/10.1182/blood-2015-04-642496 DOI 10.1182/blood-2015-07-657957 http://dx.doi.org/10.1182/blood-2015-07-657957 DrugBank DB00228 http://www.drugbank.ca/drugs/DB00228 DrugBank DB00257 http://www.drugbank.ca/drugs/DB00257 DrugBank DB00468 http://www.drugbank.ca/drugs/DB00468 DrugBank DB00721 http://www.drugbank.ca/drugs/DB00721 DrugBank DB01110 http://www.drugbank.ca/drugs/DB01110 DrugBank DB01159 http://www.drugbank.ca/drugs/DB01159 EMBL AF000972 http://www.ebi.ac.uk/ena/data/view/AF000972 EMBL AF022150 http://www.ebi.ac.uk/ena/data/view/AF022150 EMBL AF022797 http://www.ebi.ac.uk/ena/data/view/AF022797 EMBL AF033021 http://www.ebi.ac.uk/ena/data/view/AF033021 EMBL AF053403 http://www.ebi.ac.uk/ena/data/view/AF053403 EMBL AF305731 http://www.ebi.ac.uk/ena/data/view/AF305731 EMBL AF305732 http://www.ebi.ac.uk/ena/data/view/AF305732 EMBL AF305733 http://www.ebi.ac.uk/ena/data/view/AF305733 EMBL AF305734 http://www.ebi.ac.uk/ena/data/view/AF305734 EMBL AF305735 http://www.ebi.ac.uk/ena/data/view/AF305735 EMBL AF395661 http://www.ebi.ac.uk/ena/data/view/AF395661 EMBL BC015337 http://www.ebi.ac.uk/ena/data/view/BC015337 EMBL BT007426 http://www.ebi.ac.uk/ena/data/view/BT007426 EMBL CH471126 http://www.ebi.ac.uk/ena/data/view/CH471126 Ensembl ENST00000262888 http://www.ensembl.org/id/ENST00000262888 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0008076 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008076 GO_component GO:0031982 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031982 GO_function GO:0005267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005267 GO_function GO:0015269 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015269 GO_function GO:0016286 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016286 GO_function GO:0019903 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019903 GO_process GO:0002376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002376 GO_process GO:0006813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006813 GO_process GO:0006816 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006816 GO_process GO:0006884 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006884 GO_process GO:0006952 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006952 GO_process GO:0030322 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030322 GO_process GO:0045332 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045332 GO_process GO:0046541 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046541 GO_process GO:0050714 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050714 GO_process GO:0050862 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050862 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0002376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002376 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0061024 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061024 GeneCards KCNN4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNN4 GeneID 3783 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=3783 GeneTree ENSGT00500000044784 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00500000044784 HGNC HGNC:6293 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6293 HOGENOM HOG000276908 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000276908&db=HOGENOM6 HOVERGEN HBG052241 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052241&db=HOVERGEN HPA HPA053841 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA053841 HPA HPA059622 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA059622 InParanoid O15554 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O15554 IntAct O15554 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O15554* InterPro IPR004178 http://www.ebi.ac.uk/interpro/entry/IPR004178 InterPro IPR013099 http://www.ebi.ac.uk/interpro/entry/IPR013099 InterPro IPR015449 http://www.ebi.ac.uk/interpro/entry/IPR015449 Jabion 3783 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=3783 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:3783 http://www.genome.jp/dbget-bin/www_bget?hsa:3783 KEGG_Orthology KO:K04945 http://www.genome.jp/dbget-bin/www_bget?KO:K04945 KEGG_Pathway ko04970 http://www.genome.jp/kegg-bin/show_pathway?ko04970 KEGG_Pathway ko04974 http://www.genome.jp/kegg-bin/show_pathway?ko04974 MIM 602754 http://www.ncbi.nlm.nih.gov/omim/602754 MIM 616689 http://www.ncbi.nlm.nih.gov/omim/616689 OMA NINFTFR http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=NINFTFR OrthoDB EOG091G09X0 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G09X0 PANTHER PTHR10153 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10153 PSORT swissprot:KCNN4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCNN4_HUMAN PSORT-B swissprot:KCNN4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCNN4_HUMAN PSORT2 swissprot:KCNN4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCNN4_HUMAN Pfam PF02888 http://pfam.xfam.org/family/PF02888 Pfam PF03530 http://pfam.xfam.org/family/PF03530 Pfam PF07885 http://pfam.xfam.org/family/PF07885 PharmGKB PA222 http://www.pharmgkb.org/do/serve?objId=PA222&objCls=Gene Phobius swissprot:KCNN4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCNN4_HUMAN PhylomeDB O15554 http://phylomedb.org/?seqid=O15554 ProteinModelPortal O15554 http://www.proteinmodelportal.org/query/uniprot/O15554 PubMed 10026195 http://www.ncbi.nlm.nih.gov/pubmed/10026195 PubMed 10961988 http://www.ncbi.nlm.nih.gov/pubmed/10961988 PubMed 11425865 http://www.ncbi.nlm.nih.gov/pubmed/11425865 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15831468 http://www.ncbi.nlm.nih.gov/pubmed/15831468 PubMed 17157250 http://www.ncbi.nlm.nih.gov/pubmed/17157250 PubMed 18796614 http://www.ncbi.nlm.nih.gov/pubmed/18796614 PubMed 22814378 http://www.ncbi.nlm.nih.gov/pubmed/22814378 PubMed 26148990 http://www.ncbi.nlm.nih.gov/pubmed/26148990 PubMed 26178367 http://www.ncbi.nlm.nih.gov/pubmed/26178367 PubMed 26198474 http://www.ncbi.nlm.nih.gov/pubmed/26198474 PubMed 9326665 http://www.ncbi.nlm.nih.gov/pubmed/9326665 PubMed 9380751 http://www.ncbi.nlm.nih.gov/pubmed/9380751 PubMed 9407042 http://www.ncbi.nlm.nih.gov/pubmed/9407042 PubMed 9693050 http://www.ncbi.nlm.nih.gov/pubmed/9693050 Reactome R-HSA-1296052 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1296052 RefSeq NP_002241 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_002241 SMART SM01053 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM01053 SMR O15554 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=O15554 STRING 9606.ENSP00000262888 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000262888&targetmode=cogs SUPFAM SSF81327 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81327 TCDB 1.A.1.16 http://www.tcdb.org/search/result.php?tc=1.A.1.16 UCSC uc002oxl http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002oxl&org=rat UniGene Hs.10082 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.10082 UniProtKB KCNN4_HUMAN http://www.uniprot.org/uniprot/KCNN4_HUMAN UniProtKB-AC O15554 http://www.uniprot.org/uniprot/O15554 charge swissprot:KCNN4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCNN4_HUMAN eggNOG ENOG410XT9D http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XT9D eggNOG KOG3684 http://eggnogapi.embl.de/nog_data/html/tree/KOG3684 epestfind swissprot:KCNN4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCNN4_HUMAN garnier swissprot:KCNN4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCNN4_HUMAN helixturnhelix swissprot:KCNN4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCNN4_HUMAN hmoment swissprot:KCNN4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCNN4_HUMAN iep swissprot:KCNN4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCNN4_HUMAN inforesidue swissprot:KCNN4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCNN4_HUMAN neXtProt NX_O15554 http://www.nextprot.org/db/entry/NX_O15554 octanol swissprot:KCNN4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCNN4_HUMAN pepcoil swissprot:KCNN4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCNN4_HUMAN pepdigest swissprot:KCNN4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCNN4_HUMAN pepinfo swissprot:KCNN4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCNN4_HUMAN pepnet swissprot:KCNN4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCNN4_HUMAN pepstats swissprot:KCNN4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCNN4_HUMAN pepwheel swissprot:KCNN4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCNN4_HUMAN pepwindow swissprot:KCNN4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCNN4_HUMAN sigcleave swissprot:KCNN4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCNN4_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS TRPC3_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q13507-1; Sequence=Displayed; Name=2; IsoId=Q13507-2; Sequence=VSP_042446; Name=3; IsoId=Q13507-3; Sequence=VSP_042445; # AltName TRPC3_HUMAN Transient receptor protein 3 # BioGrid 113073 8 # CCDS CCDS3725 -. [Q13507-3] # CCDS CCDS47130 -. [Q13507-2] # ChiTaRS TRPC3 human # DISEASE TRPC3_HUMAN Spinocerebellar ataxia 41 (SCA41) [MIM 616410] A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. {ECO 0000269|PubMed 25477146}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000264811 ENSP00000264811; ENSG00000138741. [Q13507-3] # Ensembl ENST00000379645 ENSP00000368966; ENSG00000138741. [Q13507-2] # ExpressionAtlas Q13507 baseline and differential # FUNCTION TRPC3_HUMAN Thought to form a receptor-activated non-selective calcium permeant cation channel. Probably is operated by a phosphatidylinositol second messenger system activated by receptor tyrosine kinases or G-protein coupled receptors. Activated by diacylglycerol (DAG) in a membrane-delimited fashion, independently of protein kinase C, and by inositol 1,4,5- triphosphate receptors (ITPR) with bound IP3. May also be activated by internal calcium store depletion. {ECO 0000269|PubMed 20095964, ECO 0000269|PubMed 8646775, ECO 0000269|PubMed 9417057, ECO 0000269|PubMed 9930701}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IDA:MGI. # GO_function GO:0005262 calcium channel activity; TAS:Reactome. # GO_function GO:0015279 store-operated calcium channel activity; TAS:ProtInc. # GO_function GO:0070679 inositol 1,4,5 trisphosphate binding; IDA:BHF-UCL. # GO_process GO:0006816 calcium ion transport; TAS:ProtInc. # GO_process GO:0006828 manganese ion transport; IBA:GO_Central. # GO_process GO:0007338 single fertilization; IBA:GO_Central. # GO_process GO:0007602 phototransduction; TAS:ProtInc. # GO_process GO:0010524 positive regulation of calcium ion transport into cytosol; IDA:UniProtKB. # GO_process GO:0030168 platelet activation; TAS:Reactome. # GO_process GO:0033198 response to ATP; IDA:UniProtKB. # GO_process GO:0051592 response to calcium ion; IDA:UniProtKB. # GO_process GO:0070588 calcium ion transmembrane transport; IDA:UniProtKB. # GO_process GO:1903244 positive regulation of cardiac muscle hypertrophy in response to stress; IDA:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.25.40.20 -; 1. # Genevisible Q13507 HS # HGNC HGNC:12335 TRPC3 # INTERACTION TRPC3_HUMAN Q14573 ITPR3; NbExp=5; IntAct=EBI-520807, EBI-351055; P20591 MX1; NbExp=2; IntAct=EBI-520807, EBI-929476; P10686 Plcg1 (xeno); NbExp=2; IntAct=EBI-520807, EBI-520788; # IntAct Q13507 3 # InterPro IPR002110 Ankyrin_rpt # InterPro IPR002153 TRPC_channel # InterPro IPR004729 TRP_channel # InterPro IPR005459 TRPC3_channel # InterPro IPR005821 Ion_trans_dom # InterPro IPR013555 TRP_dom # InterPro IPR020683 Ankyrin_rpt-contain_dom # KEGG_Brite ko04040 Ion channels # MIM 602345 gene # MIM 616410 phenotype # Organism TRPC3_HUMAN Homo sapiens (Human) # PANTHER PTHR10117 PTHR10117; 2 # PANTHER PTHR10117:SF8 PTHR10117:SF8; 2 # PRINTS PR01097 TRNSRECEPTRP # PRINTS PR01644 TRPCHANNEL3 # PROSITE PS50297 ANK_REP_REGION # Pfam PF00520 Ion_trans # Pfam PF08344 TRP_2 # Pfam PF12796 Ank_2 # Proteomes UP000005640 Chromosome 4 # Reactome R-HSA-114508 Effects of PIP2 hydrolysis # Reactome R-HSA-139853 Elevation of cytosolic Ca2+ levels # Reactome R-HSA-3295583 TRP channels # Reactome R-HSA-418890 Role of second messengers in netrin-1 signaling # RecName TRPC3_HUMAN Short transient receptor potential channel 3 # RefSeq NP_001124170 NM_001130698.1. [Q13507-2] # RefSeq NP_003296 NM_003305.2. [Q13507-3] # SIMILARITY Belongs to the transient receptor (TC 1.A.4) family. STrpC subfamily. TRPC3 sub-subfamily. {ECO 0000305}. # SIMILARITY Contains 4 ANK repeats. {ECO 0000305}. # SMART SM00248 ANK; 3 # SUBCELLULAR LOCATION TRPC3_HUMAN Membrane; Multi-pass membrane protein. # SUBUNIT TRPC3_HUMAN Interacts with TRPC1, ITPR1, ITPR3, MX1 and RNF24. Interacts with JPH2; the interaction is involved in maintaining Ca(2+) homeostasis in skeletal muscle and is mediated by JPH2 'Ser-165' phosphorylation. {ECO 0000269|PubMed 10611319, ECO 0000269|PubMed 15757897, ECO 0000269|PubMed 17850865, ECO 0000269|PubMed 20095964, ECO 0000269|PubMed 9853757}. # SUPFAM SSF48403 SSF48403 # TCDB 1.A.4.1 the transient receptor potential ca(2+) channel (trp-cc) family # TIGRFAMs TIGR00870 trp # TISSUE SPECIFICITY TRPC3_HUMAN Expressed predominantly in brain and at much lower levels in ovary, colon, small intestine, lung, prostate, placenta and testis. # UCSC uc003ief human. [Q13507-1] # eggNOG ENOG410XQ0Y LUCA # eggNOG KOG3609 Eukaryota BLAST swissprot:TRPC3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:TRPC3_HUMAN BioCyc ZFISH:ENSG00000138741-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000138741-MONOMER COXPRESdb 7222 http://coxpresdb.jp/data/gene/7222.shtml CleanEx HS_TRPC3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_TRPC3 DIP DIP-34311N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-34311N DOI 10.1002/mds.26096 http://dx.doi.org/10.1002/mds.26096 DOI 10.1016/S0092-8674(00)80302-5 http://dx.doi.org/10.1016/S0092-8674(00)80302-5 DOI 10.1016/S0092-8674(00)81233-7 http://dx.doi.org/10.1016/S0092-8674(00)81233-7 DOI 10.1016/j.ceca.2007.07.009 http://dx.doi.org/10.1016/j.ceca.2007.07.009 DOI 10.1016/j.jmb.2006.12.043 http://dx.doi.org/10.1016/j.jmb.2006.12.043 DOI 10.1038/16711 http://dx.doi.org/10.1038/16711 DOI 10.1038/24890 http://dx.doi.org/10.1038/24890 DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1042/BJ20091225 http://dx.doi.org/10.1042/BJ20091225 DOI 10.1073/pnas.0409908102 http://dx.doi.org/10.1073/pnas.0409908102 DOI 10.1073/pnas.92.21.9652 http://dx.doi.org/10.1073/pnas.92.21.9652 DOI 10.1073/pnas.96.26.14955 http://dx.doi.org/10.1073/pnas.96.26.14955 DOI 10.1074/jbc.273.1.133 http://dx.doi.org/10.1074/jbc.273.1.133 DOI 10.1074/jbc.273.15.8675 http://dx.doi.org/10.1074/jbc.273.15.8675 DOI 10.1074/jbc.M500391200 http://dx.doi.org/10.1074/jbc.M500391200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AB255424 http://www.ebi.ac.uk/ena/data/view/AB255424 EMBL AC079341 http://www.ebi.ac.uk/ena/data/view/AC079341 EMBL AC108930 http://www.ebi.ac.uk/ena/data/view/AC108930 EMBL AY865574 http://www.ebi.ac.uk/ena/data/view/AY865574 EMBL BC093682 http://www.ebi.ac.uk/ena/data/view/BC093682 EMBL BC093684 http://www.ebi.ac.uk/ena/data/view/BC093684 EMBL U47050 http://www.ebi.ac.uk/ena/data/view/U47050 EMBL X89068 http://www.ebi.ac.uk/ena/data/view/X89068 EMBL Y13758 http://www.ebi.ac.uk/ena/data/view/Y13758 Ensembl ENST00000264811 http://www.ensembl.org/id/ENST00000264811 Ensembl ENST00000379645 http://www.ensembl.org/id/ENST00000379645 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0005262 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005262 GO_function GO:0015279 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015279 GO_function GO:0070679 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070679 GO_process GO:0006816 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006816 GO_process GO:0006828 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006828 GO_process GO:0007338 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007338 GO_process GO:0007602 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007602 GO_process GO:0010524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010524 GO_process GO:0030168 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030168 GO_process GO:0033198 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033198 GO_process GO:0051592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051592 GO_process GO:0070588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070588 GO_process GO:1903244 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903244 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.25.40.20 http://www.cathdb.info/version/latest/superfamily/1.25.40.20 GeneCards TRPC3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=TRPC3 GeneID 7222 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=7222 GeneTree ENSGT00760000119180 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119180 HGNC HGNC:12335 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:12335 HOGENOM HOG000020590 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000020590&db=HOGENOM6 HOVERGEN HBG068337 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG068337&db=HOVERGEN HPA HPA037969 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA037969 InParanoid Q13507 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q13507 IntAct Q13507 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q13507* InterPro IPR002110 http://www.ebi.ac.uk/interpro/entry/IPR002110 InterPro IPR002153 http://www.ebi.ac.uk/interpro/entry/IPR002153 InterPro IPR004729 http://www.ebi.ac.uk/interpro/entry/IPR004729 InterPro IPR005459 http://www.ebi.ac.uk/interpro/entry/IPR005459 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR013555 http://www.ebi.ac.uk/interpro/entry/IPR013555 InterPro IPR020683 http://www.ebi.ac.uk/interpro/entry/IPR020683 Jabion 7222 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=7222 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:7222 http://www.genome.jp/dbget-bin/www_bget?hsa:7222 KEGG_Orthology KO:K04966 http://www.genome.jp/dbget-bin/www_bget?KO:K04966 MIM 602345 http://www.ncbi.nlm.nih.gov/omim/602345 MIM 616410 http://www.ncbi.nlm.nih.gov/omim/616410 OMA CMEKQRH http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=CMEKQRH OrthoDB EOG091G01FB http://cegg.unige.ch/orthodb/results?searchtext=EOG091G01FB PANTHER PTHR10117 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10117 PANTHER PTHR10117:SF8 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10117:SF8 PRINTS PR01097 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01097 PRINTS PR01644 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01644 PROSITE PS50297 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50297 PSORT swissprot:TRPC3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:TRPC3_HUMAN PSORT-B swissprot:TRPC3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:TRPC3_HUMAN PSORT2 swissprot:TRPC3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:TRPC3_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF08344 http://pfam.xfam.org/family/PF08344 Pfam PF12796 http://pfam.xfam.org/family/PF12796 PharmGKB PA37008 http://www.pharmgkb.org/do/serve?objId=PA37008&objCls=Gene Phobius swissprot:TRPC3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:TRPC3_HUMAN ProteinModelPortal Q13507 http://www.proteinmodelportal.org/query/uniprot/Q13507 PubMed 10611319 http://www.ncbi.nlm.nih.gov/pubmed/10611319 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15728370 http://www.ncbi.nlm.nih.gov/pubmed/15728370 PubMed 15757897 http://www.ncbi.nlm.nih.gov/pubmed/15757897 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 PubMed 17258231 http://www.ncbi.nlm.nih.gov/pubmed/17258231 PubMed 17850865 http://www.ncbi.nlm.nih.gov/pubmed/17850865 PubMed 20095964 http://www.ncbi.nlm.nih.gov/pubmed/20095964 PubMed 25477146 http://www.ncbi.nlm.nih.gov/pubmed/25477146 PubMed 7568191 http://www.ncbi.nlm.nih.gov/pubmed/7568191 PubMed 8646775 http://www.ncbi.nlm.nih.gov/pubmed/8646775 PubMed 9215637 http://www.ncbi.nlm.nih.gov/pubmed/9215637 PubMed 9417057 http://www.ncbi.nlm.nih.gov/pubmed/9417057 PubMed 9535843 http://www.ncbi.nlm.nih.gov/pubmed/9535843 PubMed 9853757 http://www.ncbi.nlm.nih.gov/pubmed/9853757 PubMed 9930701 http://www.ncbi.nlm.nih.gov/pubmed/9930701 Reactome R-HSA-114508 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-114508 Reactome R-HSA-139853 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-139853 Reactome R-HSA-3295583 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-3295583 Reactome R-HSA-418890 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-418890 RefSeq NP_001124170 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001124170 RefSeq NP_003296 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_003296 SMART SM00248 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00248 STRING 9606.ENSP00000368966 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000368966&targetmode=cogs SUPFAM SSF48403 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48403 TCDB 1.A.4.1 http://www.tcdb.org/search/result.php?tc=1.A.4.1 TIGRFAMs TIGR00870 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00870 UCSC uc003ief http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003ief&org=rat UniGene Hs.150981 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.150981 UniProtKB TRPC3_HUMAN http://www.uniprot.org/uniprot/TRPC3_HUMAN UniProtKB-AC Q13507 http://www.uniprot.org/uniprot/Q13507 charge swissprot:TRPC3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:TRPC3_HUMAN eggNOG ENOG410XQ0Y http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XQ0Y eggNOG KOG3609 http://eggnogapi.embl.de/nog_data/html/tree/KOG3609 epestfind swissprot:TRPC3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:TRPC3_HUMAN garnier swissprot:TRPC3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:TRPC3_HUMAN helixturnhelix swissprot:TRPC3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:TRPC3_HUMAN hmoment swissprot:TRPC3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:TRPC3_HUMAN iep swissprot:TRPC3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:TRPC3_HUMAN inforesidue swissprot:TRPC3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:TRPC3_HUMAN neXtProt NX_Q13507 http://www.nextprot.org/db/entry/NX_Q13507 octanol swissprot:TRPC3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:TRPC3_HUMAN pepcoil swissprot:TRPC3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:TRPC3_HUMAN pepdigest swissprot:TRPC3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:TRPC3_HUMAN pepinfo swissprot:TRPC3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:TRPC3_HUMAN pepnet swissprot:TRPC3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:TRPC3_HUMAN pepstats swissprot:TRPC3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:TRPC3_HUMAN pepwheel swissprot:TRPC3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:TRPC3_HUMAN pepwindow swissprot:TRPC3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:TRPC3_HUMAN sigcleave swissprot:TRPC3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:TRPC3_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS GBRB1_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P18505-1; Sequence=Displayed; Name=2; Synonyms=B; IsoId=P18505-2; Sequence=VSP_055900, VSP_055901; # AltName GBRB1_HUMAN GABA(A) receptor subunit beta-1 # BioGrid 108834 5 # CCDS CCDS3474 -. [P18505-1] # DrugBank DB00186 Lorazepam # DrugBank DB00189 Ethchlorvynol # DrugBank DB00228 Enflurane # DrugBank DB00231 Temazepam # DrugBank DB00237 Butabarbital # DrugBank DB00241 Butalbital # DrugBank DB00273 Topiramate # DrugBank DB00292 Etomidate # DrugBank DB00306 Talbutal # DrugBank DB00312 Pentobarbital # DrugBank DB00334 Olanzapine # DrugBank DB00349 Clobazam # DrugBank DB00371 Meprobamate # DrugBank DB00402 Eszopiclone # DrugBank DB00404 Alprazolam # DrugBank DB00431 Lindane # DrugBank DB00475 Chlordiazepoxide # DrugBank DB00543 Amoxapine # DrugBank DB00546 Adinazolam # DrugBank DB00628 Clorazepate # DrugBank DB00659 Acamprosate # DrugBank DB00683 Midazolam # DrugBank DB00690 Flurazepam # DrugBank DB00753 Isoflurane # DrugBank DB00794 Primidone # DrugBank DB00801 Halazepam # DrugBank DB00818 Propofol # DrugBank DB00829 Diazepam # DrugBank DB00842 Oxazepam # DrugBank DB00897 Triazolam # DrugBank DB00898 Ethanol # DrugBank DB01028 Methoxyflurane # DrugBank DB01049 Ergoloid mesylate # DrugBank DB01068 Clonazepam # DrugBank DB01107 Methyprylon # DrugBank DB01159 Halothane # DrugBank DB01189 Desflurane # DrugBank DB01205 Flumazenil # DrugBank DB01215 Estazolam # DrugBank DB01236 Sevoflurane # DrugBank DB01437 Glutethimide # DrugBank DB01440 Gamma Hydroxybutyric Acid # DrugBank DB01558 Bromazepam # DrugBank DB01559 Clotiazepam # DrugBank DB01567 Fludiazepam # DrugBank DB01587 Ketazolam # DrugBank DB01588 Prazepam # DrugBank DB01589 Quazepam # DrugBank DB01594 Cinolazepam # DrugBank DB01595 Nitrazepam # Ensembl ENST00000295454 ENSP00000295454; ENSG00000163288. [P18505-1] # Ensembl ENST00000510909 ENSP00000426766; ENSG00000163288. [P18505-2] # ExpressionAtlas P18505 baseline and differential # FUNCTION GBRB1_HUMAN Component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the vertebrate brain. Functions also as histamine receptor and mediates cellular responses to histamine. Functions as receptor for diazepines and various anesthetics, such as pentobarbital; these are bound at a separate allosteric effector binding site. Functions as ligand- gated chloride channel (By similarity). {ECO 0000250}. # GO_component GO:0005635 nuclear envelope; IEA:Ensembl. # GO_component GO:0005737 cytoplasm; IEA:Ensembl. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; ISS:UniProtKB. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0030425 dendrite; IEA:Ensembl. # GO_component GO:0034707 chloride channel complex; IEA:UniProtKB-KW. # GO_component GO:0045211 postsynaptic membrane; IEA:UniProtKB-SubCell. # GO_component GO:1902711 GABA-A receptor complex; ISS:UniProtKB. # GO_function GO:0004890 GABA-A receptor activity; ISS:UniProtKB. # GO_function GO:0015276 ligand-gated ion channel activity; ISS:UniProtKB. # GO_function GO:0022851 GABA-gated chloride ion channel activity; IDA:GO_Central. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0006811 ion transport; ISS:UniProtKB. # GO_process GO:0007165 signal transduction; TAS:ProtInc. # GO_process GO:0009636 response to toxic substance; IEA:Ensembl. # GO_process GO:0021954 central nervous system neuron development; IEA:Ensembl. # GO_process GO:0032570 response to progesterone; IEA:Ensembl. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0042698 ovulation cycle; IEA:Ensembl. # GO_process GO:0071420 cellular response to histamine; ISS:UniProtKB. # GO_process GO:1902476 chloride transmembrane transport; IDA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005635 nuclear envelope # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0055085 transmembrane transport # Gene3D 2.70.170.10 -; 1. # Genevisible P18505 HS # HGNC HGNC:4081 GABRB1 # IntAct P18505 4 # InterPro IPR002289 GABAAb_rcpt # InterPro IPR006028 GABAA/Glycine_rcpt # InterPro IPR006029 Neurotrans-gated_channel_TM # InterPro IPR006201 Neur_channel # InterPro IPR006202 Neur_chan_lig-bd # InterPro IPR018000 Neurotransmitter_ion_chnl_CS # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04080 Neuroactive ligand-receptor interaction # KEGG_Pathway ko04723 Retrograde endocannabinoid signaling # KEGG_Pathway ko04726 Serotonergic synapse # KEGG_Pathway ko04727 GABAergic synapse # KEGG_Pathway ko05032 Morphine addiction # KEGG_Pathway ko05033 Nicotine addiction # MIM 137190 gene # Organism GBRB1_HUMAN Homo sapiens (Human) # PANTHER PTHR18945 PTHR18945; 2 # PIR A40336 A40336 # PRINTS PR00252 NRIONCHANNEL # PRINTS PR00253 GABAARECEPTR # PRINTS PR01160 GABAARBETA # PROSITE PS00236 NEUROTR_ION_CHANNEL # Pfam PF02931 Neur_chan_LBD # Pfam PF02932 Neur_chan_memb # Proteomes UP000005640 Chromosome 4 # Reactome R-HSA-112314 Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell # Reactome R-HSA-975298 Ligand-gated ion channel transport # Reactome R-HSA-977441 GABA A receptor activation # RecName GBRB1_HUMAN Gamma-aminobutyric acid receptor subunit beta-1 # RefSeq NP_000803 NM_000812.3. [P18505-1] # SIMILARITY Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRB1 sub-subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION GBRB1_HUMAN Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. # SUBUNIT Binds UBQLN1 (By similarity). Heteropentamer, formed by a combination of alpha, beta, gamma, delta and rho chains. Interacts with KCTD8, KCTD12 and KCTD16; this interaction determines the pharmacology and kinetics of the receptor response, the KCTD proteins markedly accelerating the GABA-B response, although to different extents (By similarity). {ECO 0000250}. # SUPFAM SSF63712 SSF63712 # SUPFAM SSF90112 SSF90112 # TIGRFAMs TIGR00860 LIC # UCSC uc062wjg human. [P18505-1] # WEB RESOURCE GBRB1_HUMAN Name=Protein Spotlight; Note=Forbidden fruit - Issue 56 of March 2005; URL="http //web.expasy.org/spotlight/back_issues/056"; # eggNOG ENOG410XPWH LUCA # eggNOG KOG3643 Eukaryota BLAST swissprot:GBRB1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:GBRB1_HUMAN COXPRESdb 2560 http://coxpresdb.jp/data/gene/2560.shtml CleanEx HS_GABRB1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_GABRB1 DOI 10.1002/ajmg.1320540105 http://dx.doi.org/10.1002/ajmg.1320540105 DOI 10.1016/0014-5793(89)80563-0 http://dx.doi.org/10.1016/0014-5793(89)80563-0 DOI 10.1016/0888-7543(91)90189-L http://dx.doi.org/10.1016/0888-7543(91)90189-L DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1038/ncomms4650 http://dx.doi.org/10.1038/ncomms4650 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DrugBank DB00186 http://www.drugbank.ca/drugs/DB00186 DrugBank DB00189 http://www.drugbank.ca/drugs/DB00189 DrugBank DB00228 http://www.drugbank.ca/drugs/DB00228 DrugBank DB00231 http://www.drugbank.ca/drugs/DB00231 DrugBank DB00237 http://www.drugbank.ca/drugs/DB00237 DrugBank DB00241 http://www.drugbank.ca/drugs/DB00241 DrugBank DB00273 http://www.drugbank.ca/drugs/DB00273 DrugBank DB00292 http://www.drugbank.ca/drugs/DB00292 DrugBank DB00306 http://www.drugbank.ca/drugs/DB00306 DrugBank DB00312 http://www.drugbank.ca/drugs/DB00312 DrugBank DB00334 http://www.drugbank.ca/drugs/DB00334 DrugBank DB00349 http://www.drugbank.ca/drugs/DB00349 DrugBank DB00371 http://www.drugbank.ca/drugs/DB00371 DrugBank DB00402 http://www.drugbank.ca/drugs/DB00402 DrugBank DB00404 http://www.drugbank.ca/drugs/DB00404 DrugBank DB00431 http://www.drugbank.ca/drugs/DB00431 DrugBank DB00475 http://www.drugbank.ca/drugs/DB00475 DrugBank DB00543 http://www.drugbank.ca/drugs/DB00543 DrugBank DB00546 http://www.drugbank.ca/drugs/DB00546 DrugBank DB00628 http://www.drugbank.ca/drugs/DB00628 DrugBank DB00659 http://www.drugbank.ca/drugs/DB00659 DrugBank DB00683 http://www.drugbank.ca/drugs/DB00683 DrugBank DB00690 http://www.drugbank.ca/drugs/DB00690 DrugBank DB00753 http://www.drugbank.ca/drugs/DB00753 DrugBank DB00794 http://www.drugbank.ca/drugs/DB00794 DrugBank DB00801 http://www.drugbank.ca/drugs/DB00801 DrugBank DB00818 http://www.drugbank.ca/drugs/DB00818 DrugBank DB00829 http://www.drugbank.ca/drugs/DB00829 DrugBank DB00842 http://www.drugbank.ca/drugs/DB00842 DrugBank DB00897 http://www.drugbank.ca/drugs/DB00897 DrugBank DB00898 http://www.drugbank.ca/drugs/DB00898 DrugBank DB01028 http://www.drugbank.ca/drugs/DB01028 DrugBank DB01049 http://www.drugbank.ca/drugs/DB01049 DrugBank DB01068 http://www.drugbank.ca/drugs/DB01068 DrugBank DB01107 http://www.drugbank.ca/drugs/DB01107 DrugBank DB01159 http://www.drugbank.ca/drugs/DB01159 DrugBank DB01189 http://www.drugbank.ca/drugs/DB01189 DrugBank DB01205 http://www.drugbank.ca/drugs/DB01205 DrugBank DB01215 http://www.drugbank.ca/drugs/DB01215 DrugBank DB01236 http://www.drugbank.ca/drugs/DB01236 DrugBank DB01437 http://www.drugbank.ca/drugs/DB01437 DrugBank DB01440 http://www.drugbank.ca/drugs/DB01440 DrugBank DB01558 http://www.drugbank.ca/drugs/DB01558 DrugBank DB01559 http://www.drugbank.ca/drugs/DB01559 DrugBank DB01567 http://www.drugbank.ca/drugs/DB01567 DrugBank DB01587 http://www.drugbank.ca/drugs/DB01587 DrugBank DB01588 http://www.drugbank.ca/drugs/DB01588 DrugBank DB01589 http://www.drugbank.ca/drugs/DB01589 DrugBank DB01594 http://www.drugbank.ca/drugs/DB01594 DrugBank DB01595 http://www.drugbank.ca/drugs/DB01595 EMBL AC097712 http://www.ebi.ac.uk/ena/data/view/AC097712 EMBL AC105394 http://www.ebi.ac.uk/ena/data/view/AC105394 EMBL AC107383 http://www.ebi.ac.uk/ena/data/view/AC107383 EMBL AC107392 http://www.ebi.ac.uk/ena/data/view/AC107392 EMBL AK312720 http://www.ebi.ac.uk/ena/data/view/AK312720 EMBL BC022449 http://www.ebi.ac.uk/ena/data/view/BC022449 EMBL CH471069 http://www.ebi.ac.uk/ena/data/view/CH471069 EMBL KJ535054 http://www.ebi.ac.uk/ena/data/view/KJ535054 EMBL M59212 http://www.ebi.ac.uk/ena/data/view/M59212 EMBL M59214 http://www.ebi.ac.uk/ena/data/view/M59214 EMBL M59215 http://www.ebi.ac.uk/ena/data/view/M59215 EMBL M59216 http://www.ebi.ac.uk/ena/data/view/M59216 EMBL S70733 http://www.ebi.ac.uk/ena/data/view/S70733 EMBL X14767 http://www.ebi.ac.uk/ena/data/view/X14767 Ensembl ENST00000295454 http://www.ensembl.org/id/ENST00000295454 Ensembl ENST00000510909 http://www.ensembl.org/id/ENST00000510909 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005635 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005635 GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0030425 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030425 GO_component GO:0034707 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034707 GO_component GO:0045211 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045211 GO_component GO:1902711 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902711 GO_function GO:0004890 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004890 GO_function GO:0015276 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015276 GO_function GO:0022851 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022851 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0006811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006811 GO_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GO_process GO:0009636 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009636 GO_process GO:0021954 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021954 GO_process GO:0032570 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032570 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0042698 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042698 GO_process GO:0071420 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071420 GO_process GO:1902476 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902476 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005635 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005635 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 2.70.170.10 http://www.cathdb.info/version/latest/superfamily/2.70.170.10 GeneCards GABRB1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=GABRB1 GeneID 2560 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=2560 GeneTree ENSGT00760000118821 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118821 H-InvDB HIX0004191 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0004191 H-InvDB HIX0164000 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0164000 HGNC HGNC:4081 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:4081 HOGENOM HOG000231335 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231335&db=HOGENOM6 HOVERGEN HBG051707 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG051707&db=HOVERGEN HPA HPA051297 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA051297 InParanoid P18505 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P18505 IntAct P18505 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P18505* InterPro IPR002289 http://www.ebi.ac.uk/interpro/entry/IPR002289 InterPro IPR006028 http://www.ebi.ac.uk/interpro/entry/IPR006028 InterPro IPR006029 http://www.ebi.ac.uk/interpro/entry/IPR006029 InterPro IPR006201 http://www.ebi.ac.uk/interpro/entry/IPR006201 InterPro IPR006202 http://www.ebi.ac.uk/interpro/entry/IPR006202 InterPro IPR018000 http://www.ebi.ac.uk/interpro/entry/IPR018000 Jabion 2560 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=2560 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:2560 http://www.genome.jp/dbget-bin/www_bget?hsa:2560 KEGG_Orthology KO:K05181 http://www.genome.jp/dbget-bin/www_bget?KO:K05181 KEGG_Pathway ko04080 http://www.genome.jp/kegg-bin/show_pathway?ko04080 KEGG_Pathway ko04723 http://www.genome.jp/kegg-bin/show_pathway?ko04723 KEGG_Pathway ko04726 http://www.genome.jp/kegg-bin/show_pathway?ko04726 KEGG_Pathway ko04727 http://www.genome.jp/kegg-bin/show_pathway?ko04727 KEGG_Pathway ko05032 http://www.genome.jp/kegg-bin/show_pathway?ko05032 KEGG_Pathway ko05033 http://www.genome.jp/kegg-bin/show_pathway?ko05033 MIM 137190 http://www.ncbi.nlm.nih.gov/omim/137190 OMA CAHSSNE http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=CAHSSNE OrthoDB EOG091G0805 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0805 PANTHER PTHR18945 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR18945 PRINTS PR00252 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00252 PRINTS PR00253 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00253 PRINTS PR01160 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01160 PROSITE PS00236 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00236 PSORT swissprot:GBRB1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:GBRB1_HUMAN PSORT-B swissprot:GBRB1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:GBRB1_HUMAN PSORT2 swissprot:GBRB1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:GBRB1_HUMAN Pfam PF02931 http://pfam.xfam.org/family/PF02931 Pfam PF02932 http://pfam.xfam.org/family/PF02932 PharmGKB PA28495 http://www.pharmgkb.org/do/serve?objId=PA28495&objCls=Gene Phobius swissprot:GBRB1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:GBRB1_HUMAN PhylomeDB P18505 http://phylomedb.org/?seqid=P18505 ProteinModelPortal P18505 http://www.proteinmodelportal.org/query/uniprot/P18505 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 PubMed 1655634 http://www.ncbi.nlm.nih.gov/pubmed/1655634 PubMed 2160058 http://www.ncbi.nlm.nih.gov/pubmed/2160058 PubMed 2465923 http://www.ncbi.nlm.nih.gov/pubmed/2465923 PubMed 24722188 http://www.ncbi.nlm.nih.gov/pubmed/24722188 PubMed 8178835 http://www.ncbi.nlm.nih.gov/pubmed/8178835 Reactome R-HSA-112314 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-112314 Reactome R-HSA-975298 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-975298 Reactome R-HSA-977441 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-977441 RefSeq NP_000803 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000803 SMR P18505 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P18505 STRING 9606.ENSP00000295454 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000295454&targetmode=cogs SUPFAM SSF63712 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF63712 SUPFAM SSF90112 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF90112 TIGRFAMs TIGR00860 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00860 UCSC uc062wjg http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc062wjg&org=rat UniGene Hs.254117 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.254117 UniGene Hs.27283 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.27283 UniGene Hs.633316 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.633316 UniProtKB GBRB1_HUMAN http://www.uniprot.org/uniprot/GBRB1_HUMAN UniProtKB-AC P18505 http://www.uniprot.org/uniprot/P18505 charge swissprot:GBRB1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:GBRB1_HUMAN eggNOG ENOG410XPWH http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XPWH eggNOG KOG3643 http://eggnogapi.embl.de/nog_data/html/tree/KOG3643 epestfind swissprot:GBRB1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:GBRB1_HUMAN garnier swissprot:GBRB1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:GBRB1_HUMAN helixturnhelix swissprot:GBRB1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:GBRB1_HUMAN hmoment swissprot:GBRB1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:GBRB1_HUMAN iep swissprot:GBRB1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:GBRB1_HUMAN inforesidue swissprot:GBRB1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:GBRB1_HUMAN neXtProt NX_P18505 http://www.nextprot.org/db/entry/NX_P18505 octanol swissprot:GBRB1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:GBRB1_HUMAN pepcoil swissprot:GBRB1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:GBRB1_HUMAN pepdigest swissprot:GBRB1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:GBRB1_HUMAN pepinfo swissprot:GBRB1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:GBRB1_HUMAN pepnet swissprot:GBRB1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:GBRB1_HUMAN pepstats swissprot:GBRB1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:GBRB1_HUMAN pepwheel swissprot:GBRB1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:GBRB1_HUMAN pepwindow swissprot:GBRB1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:GBRB1_HUMAN sigcleave swissprot:GBRB1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:GBRB1_HUMAN ## Database ID URL or Descriptions # AltName VGLU2_HUMAN Differentiation-associated BNPI # AltName VGLU2_HUMAN Differentiation-associated Na(+)-dependent inorganic phosphate cotransporter # AltName VGLU2_HUMAN Solute carrier family 17 member 6 # CDD cd06174 MFS # DEVELOPMENTAL STAGE Expressed in fetal brain. {ECO:0000269|PubMed 10820226}. # Ensembl ENST00000263160 ENSP00000263160; ENSG00000091664 # FUNCTION VGLU2_HUMAN Mediates the uptake of glutamate into synaptic vesicles at presynaptic nerve terminals of excitatory neural cells. May also mediate the transport of inorganic phosphate. {ECO 0000269|PubMed 10820226, ECO 0000269|PubMed 11698620}. # GO_component GO:0016021 integral component of membrane; IBA:GO_Central. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0030672 synaptic vesicle membrane; IBA:GO_Central. # GO_component GO:0043005 neuron projection; IEA:UniProtKB-SubCell. # GO_function GO:0005313 L-glutamate transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015293 symporter activity; IEA:UniProtKB-KW. # GO_process GO:0006811 ion transport; TAS:Reactome. # GO_process GO:0006814 sodium ion transport; IEA:UniProtKB-KW. # GO_process GO:0006836 neurotransmitter transport; IEA:UniProtKB-KW. # GO_process GO:0089711 L-glutamate transmembrane transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0055085 transmembrane transport # Genevisible Q9P2U8 HS # HGNC HGNC:16703 SLC17A6 # InterPro IPR011701 MFS # InterPro IPR020846 MFS_dom # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02000 Transporters # KEGG_Brite ko02001 Solute carrier family # KEGG_Pathway ko04721 Synaptic vesicle cycle # KEGG_Pathway ko04723 Retrograde endocannabinoid signaling # KEGG_Pathway ko04724 Glutamatergic synapse # KEGG_Pathway ko05033 Nicotine addiction # MIM 607563 gene # Organism VGLU2_HUMAN Homo sapiens (Human) # PROSITE PS50850 MFS # Pfam PF07690 MFS_1 # Proteomes UP000005640 Chromosome 11 # Reactome R-HSA-428643 Organic anion transporters # RecName VGLU2_HUMAN Vesicular glutamate transporter 2 # RefSeq NP_065079 NM_020346.2 # SIMILARITY Belongs to the major facilitator superfamily. Sodium/anion cotransporter family. VGLUT subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION VGLU2_HUMAN Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO 0000250|UniProtKB Q8BLE7}. Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. Cell junction, synapse, synaptosome {ECO 0000250|UniProtKB Q8BLE7}. # SUPFAM SSF103473 SSF103473 # TCDB 2.A.1.14.31 the major facilitator superfamily (mfs) # TISSUE SPECIFICITY Predominantly expressed in adult brain. Expressed in amygdala, caudate nucleus, cerebral cortex, frontal lobe, hippocampus, medulla, occipital lobe, putamen, spinal cord, substantia nigra, subthalamic nucleus, temporal lobe and thalamus. {ECO:0000269|PubMed 10820226}. # UCSC uc001mqk human # eggNOG ENOG410XPWC LUCA # eggNOG KOG2532 Eukaryota BLAST swissprot:VGLU2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:VGLU2_HUMAN BioCyc ZFISH:ENSG00000091664-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000091664-MONOMER COXPRESdb 57084 http://coxpresdb.jp/data/gene/57084.shtml CleanEx HS_SLC17A6 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC17A6 DOI 10.1038/nature04632 http://dx.doi.org/10.1038/nature04632 DOI 10.1046/j.1471-4159.2000.0742622.x http://dx.doi.org/10.1046/j.1471-4159.2000.0742622.x DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1133427 http://dx.doi.org/10.1126/science.1133427 EMBL AB032435 http://www.ebi.ac.uk/ena/data/view/AB032435 EMBL AC040936 http://www.ebi.ac.uk/ena/data/view/AC040936 EMBL BC069629 http://www.ebi.ac.uk/ena/data/view/BC069629 EMBL BC069640 http://www.ebi.ac.uk/ena/data/view/BC069640 EMBL BC069646 http://www.ebi.ac.uk/ena/data/view/BC069646 EMBL CH471064 http://www.ebi.ac.uk/ena/data/view/CH471064 Ensembl ENST00000263160 http://www.ensembl.org/id/ENST00000263160 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0030672 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030672 GO_component GO:0043005 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043005 GO_function GO:0005313 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005313 GO_function GO:0015293 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015293 GO_process GO:0006811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006811 GO_process GO:0006814 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006814 GO_process GO:0006836 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006836 GO_process GO:0089711 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0089711 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC17A6 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC17A6 GeneID 57084 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=57084 GeneTree ENSGT00760000119079 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119079 HGNC HGNC:16703 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:16703 HOGENOM HOG000230812 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000230812&db=HOGENOM6 HOVERGEN HBG008834 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG008834&db=HOVERGEN HPA CAB037130 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB037130 HPA HPA039226 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA039226 InParanoid Q9P2U8 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9P2U8 InterPro IPR011701 http://www.ebi.ac.uk/interpro/entry/IPR011701 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 57084 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=57084 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:57084 http://www.genome.jp/dbget-bin/www_bget?hsa:57084 KEGG_Orthology KO:K12302 http://www.genome.jp/dbget-bin/www_bget?KO:K12302 KEGG_Pathway ko04721 http://www.genome.jp/kegg-bin/show_pathway?ko04721 KEGG_Pathway ko04723 http://www.genome.jp/kegg-bin/show_pathway?ko04723 KEGG_Pathway ko04724 http://www.genome.jp/kegg-bin/show_pathway?ko04724 KEGG_Pathway ko05033 http://www.genome.jp/kegg-bin/show_pathway?ko05033 MIM 607563 http://www.ncbi.nlm.nih.gov/omim/607563 OMA YNEQSQM http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=YNEQSQM OrthoDB EOG091G06DG http://cegg.unige.ch/orthodb/results?searchtext=EOG091G06DG PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PSORT swissprot:VGLU2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:VGLU2_HUMAN PSORT-B swissprot:VGLU2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:VGLU2_HUMAN PSORT2 swissprot:VGLU2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:VGLU2_HUMAN Pfam PF07690 http://pfam.xfam.org/family/PF07690 PharmGKB PA424 http://www.pharmgkb.org/do/serve?objId=PA424&objCls=Gene Phobius swissprot:VGLU2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:VGLU2_HUMAN PhylomeDB Q9P2U8 http://phylomedb.org/?seqid=Q9P2U8 ProteinModelPortal Q9P2U8 http://www.proteinmodelportal.org/query/uniprot/Q9P2U8 PubMed 10820226 http://www.ncbi.nlm.nih.gov/pubmed/10820226 PubMed 11698620 http://www.ncbi.nlm.nih.gov/pubmed/11698620 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16554811 http://www.ncbi.nlm.nih.gov/pubmed/16554811 PubMed 16959974 http://www.ncbi.nlm.nih.gov/pubmed/16959974 Reactome R-HSA-428643 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-428643 RefSeq NP_065079 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_065079 STRING 9606.ENSP00000263160 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000263160&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.1.14.31 http://www.tcdb.org/search/result.php?tc=2.A.1.14.31 UCSC uc001mqk http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001mqk&org=rat UniGene Hs.242821 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.242821 UniProtKB VGLU2_HUMAN http://www.uniprot.org/uniprot/VGLU2_HUMAN UniProtKB-AC Q9P2U8 http://www.uniprot.org/uniprot/Q9P2U8 charge swissprot:VGLU2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:VGLU2_HUMAN eggNOG ENOG410XPWC http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XPWC eggNOG KOG2532 http://eggnogapi.embl.de/nog_data/html/tree/KOG2532 epestfind swissprot:VGLU2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:VGLU2_HUMAN garnier swissprot:VGLU2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:VGLU2_HUMAN helixturnhelix swissprot:VGLU2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:VGLU2_HUMAN hmoment swissprot:VGLU2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:VGLU2_HUMAN iep swissprot:VGLU2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:VGLU2_HUMAN inforesidue swissprot:VGLU2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:VGLU2_HUMAN neXtProt NX_Q9P2U8 http://www.nextprot.org/db/entry/NX_Q9P2U8 octanol swissprot:VGLU2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:VGLU2_HUMAN pepcoil swissprot:VGLU2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:VGLU2_HUMAN pepdigest swissprot:VGLU2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:VGLU2_HUMAN pepinfo swissprot:VGLU2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:VGLU2_HUMAN pepnet swissprot:VGLU2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:VGLU2_HUMAN pepstats swissprot:VGLU2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:VGLU2_HUMAN pepwheel swissprot:VGLU2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:VGLU2_HUMAN pepwindow swissprot:VGLU2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:VGLU2_HUMAN sigcleave swissprot:VGLU2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:VGLU2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS AQP10_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96PS8-1; Sequence=Displayed; Name=2; IsoId=Q96PS8-2; Sequence=VSP_010211; # AltName AQP10_HUMAN Aquaglyceroporin-10 # AltName AQP10_HUMAN Small intestine aquaporin # CCDS CCDS1065 -. [Q96PS8-1] # CDD cd00333 MIP # DOMAIN AQP10_HUMAN Aquaporins contain two tandem repeats each containing three membrane-spanning domains and a pore-forming loop with the signature motif Asn-Pro-Ala (NPA). # Ensembl ENST00000324978 ENSP00000318355; ENSG00000143595. [Q96PS8-1] # Ensembl ENST00000484864 ENSP00000420341; ENSG00000143595. [Q96PS8-2] # FUNCTION AQP10_HUMAN Water channel required to promote glycerol permeability and water transport across cell membranes. May contribute to water transport in the upper portion of small intestine. Isoform 2 is not permeable to urea and glycerol. {ECO 0000269|PubMed 11573934, ECO 0000269|PubMed 12084581}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_function GO:0015204 urea transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015250 water channel activity; EXP:Reactome. # GO_function GO:0015254 glycerol channel activity; EXP:Reactome. # GO_function GO:0015265 urea channel activity; EXP:Reactome. # GO_process GO:0006833 water transport; TAS:Reactome. # GO_process GO:0009636 response to toxic substance; IDA:UniProtKB. # GO_process GO:0009992 cellular water homeostasis; IBA:GO_Central. # GO_process GO:0034219 carbohydrate transmembrane transport; IBA:GO_Central. # GO_process GO:0034220 ion transmembrane transport; IBA:GO_Central. # GO_process GO:0071918 urea transmembrane transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.20.1080.10 -; 1. # Genevisible Q96PS8 HS # HGNC HGNC:16029 AQP10 # InterPro IPR000425 MIP # InterPro IPR022357 MIP_CS # InterPro IPR023271 Aquaporin-like # InterPro IPR026252 Aquaporin_10 # KEGG_Brite ko04040 Ion channels # MIM 606578 gene # Organism AQP10_HUMAN Homo sapiens (Human) # PANTHER PTHR19139 PTHR19139 # PIR JC7772 JC7772 # PRINTS PR00783 MINTRINSICP # PRINTS PR02022 AQUAPORIN10M # PROSITE PS00221 MIP # Pfam PF00230 MIP # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-432047 Passive transport by Aquaporins # RecName AQP10_HUMAN Aquaporin-10 # RefSeq NP_536354 NM_080429.2. [Q96PS8-1] # SIMILARITY Belongs to the MIP/aquaporin (TC 1.A.8) family. {ECO 0000305}. # SUBCELLULAR LOCATION AQP10_HUMAN Membrane; Multi-pass membrane protein. # SUPFAM SSF81338 SSF81338 # TCDB 1.A.8.9 the major intrinsic protein (mip) family # TIGRFAMs TIGR00861 MIP # TISSUE SPECIFICITY AQP10_HUMAN Expressed exclusively in duodenum and jejunum. Highest expression in absorptive epithelial cells at the tips of villi in the jejunum. # UCSC uc001feu human. [Q96PS8-1] # eggNOG COG0580 LUCA # eggNOG KOG0224 Eukaryota BLAST swissprot:AQP10_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:AQP10_HUMAN BioCyc ZFISH:ENSG00000143595-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000143595-MONOMER COXPRESdb 89872 http://coxpresdb.jp/data/gene/89872.shtml CleanEx HS_AQP10 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_AQP10 DOI 10.1006/bbrc.2001.5661 http://dx.doi.org/10.1006/bbrc.2001.5661 DOI 10.1016/S0167-4781(02)00393-7 http://dx.doi.org/10.1016/S0167-4781(02)00393-7 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AB066105 http://www.ebi.ac.uk/ena/data/view/AB066105 EMBL AF159174 http://www.ebi.ac.uk/ena/data/view/AF159174 EMBL AL354980 http://www.ebi.ac.uk/ena/data/view/AL354980 EMBL AL354980 http://www.ebi.ac.uk/ena/data/view/AL354980 EMBL BC069607 http://www.ebi.ac.uk/ena/data/view/BC069607 EMBL BC074896 http://www.ebi.ac.uk/ena/data/view/BC074896 EMBL BC074897 http://www.ebi.ac.uk/ena/data/view/BC074897 Ensembl ENST00000324978 http://www.ensembl.org/id/ENST00000324978 Ensembl ENST00000484864 http://www.ensembl.org/id/ENST00000484864 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0015204 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015204 GO_function GO:0015250 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015250 GO_function GO:0015254 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015254 GO_function GO:0015265 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015265 GO_process GO:0006833 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006833 GO_process GO:0009636 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009636 GO_process GO:0009992 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009992 GO_process GO:0034219 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034219 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0071918 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071918 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.20.1080.10 http://www.cathdb.info/version/latest/superfamily/1.20.1080.10 GeneCards AQP10 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=AQP10 GeneID 89872 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=89872 GeneTree ENSGT00510000046311 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00510000046311 HGNC HGNC:16029 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:16029 HOGENOM HOG000288287 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000288287&db=HOGENOM6 HOVERGEN HBG106057 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG106057&db=HOVERGEN HPA HPA065947 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA065947 InParanoid Q96PS8 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q96PS8 InterPro IPR000425 http://www.ebi.ac.uk/interpro/entry/IPR000425 InterPro IPR022357 http://www.ebi.ac.uk/interpro/entry/IPR022357 InterPro IPR023271 http://www.ebi.ac.uk/interpro/entry/IPR023271 InterPro IPR026252 http://www.ebi.ac.uk/interpro/entry/IPR026252 Jabion 89872 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=89872 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:89872 http://www.genome.jp/dbget-bin/www_bget?hsa:89872 KEGG_Orthology KO:K09878 http://www.genome.jp/dbget-bin/www_bget?KO:K09878 MIM 606578 http://www.ncbi.nlm.nih.gov/omim/606578 OMA ASDLEMP http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=ASDLEMP OrthoDB EOG091G0FMS http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0FMS PANTHER PTHR19139 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR19139 PRINTS PR00783 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00783 PRINTS PR02022 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR02022 PROSITE PS00221 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00221 PSORT swissprot:AQP10_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:AQP10_HUMAN PSORT-B swissprot:AQP10_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:AQP10_HUMAN PSORT2 swissprot:AQP10_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:AQP10_HUMAN Pfam PF00230 http://pfam.xfam.org/family/PF00230 PharmGKB PA24919 http://www.pharmgkb.org/do/serve?objId=PA24919&objCls=Gene Phobius swissprot:AQP10_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:AQP10_HUMAN PhylomeDB Q96PS8 http://phylomedb.org/?seqid=Q96PS8 ProteinModelPortal Q96PS8 http://www.proteinmodelportal.org/query/uniprot/Q96PS8 PubMed 11573934 http://www.ncbi.nlm.nih.gov/pubmed/11573934 PubMed 12084581 http://www.ncbi.nlm.nih.gov/pubmed/12084581 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 Reactome R-HSA-432047 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-432047 RefSeq NP_536354 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_536354 STRING 9606.ENSP00000318355 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000318355&targetmode=cogs SUPFAM SSF81338 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81338 TCDB 1.A.8.9 http://www.tcdb.org/search/result.php?tc=1.A.8.9 TIGRFAMs TIGR00861 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00861 UCSC uc001feu http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001feu&org=rat UniGene Hs.259048 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.259048 UniProtKB AQP10_HUMAN http://www.uniprot.org/uniprot/AQP10_HUMAN UniProtKB-AC Q96PS8 http://www.uniprot.org/uniprot/Q96PS8 charge swissprot:AQP10_HUMAN http://rest.g-language.org/emboss/charge/swissprot:AQP10_HUMAN eggNOG COG0580 http://eggnogapi.embl.de/nog_data/html/tree/COG0580 eggNOG KOG0224 http://eggnogapi.embl.de/nog_data/html/tree/KOG0224 epestfind swissprot:AQP10_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:AQP10_HUMAN garnier swissprot:AQP10_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:AQP10_HUMAN helixturnhelix swissprot:AQP10_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:AQP10_HUMAN hmoment swissprot:AQP10_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:AQP10_HUMAN iep swissprot:AQP10_HUMAN http://rest.g-language.org/emboss/iep/swissprot:AQP10_HUMAN inforesidue swissprot:AQP10_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:AQP10_HUMAN neXtProt NX_Q96PS8 http://www.nextprot.org/db/entry/NX_Q96PS8 octanol swissprot:AQP10_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:AQP10_HUMAN pepcoil swissprot:AQP10_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:AQP10_HUMAN pepdigest swissprot:AQP10_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:AQP10_HUMAN pepinfo swissprot:AQP10_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:AQP10_HUMAN pepnet swissprot:AQP10_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:AQP10_HUMAN pepstats swissprot:AQP10_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:AQP10_HUMAN pepwheel swissprot:AQP10_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:AQP10_HUMAN pepwindow swissprot:AQP10_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:AQP10_HUMAN sigcleave swissprot:AQP10_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:AQP10_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS JPH3_HUMAN Event=Alternative splicing; Named isoforms=2; Comment=Additional isoforms seem to exist.; Name=1; IsoId=Q8WXH2-1; Sequence=Displayed; Name=2; IsoId=Q8WXH2-2; Sequence=VSP_002787, VSP_002788; # AltName JPH3_HUMAN Junctophilin type 3 # AltName JPH3_HUMAN Trinucleotide repeat-containing gene 22 protein # BioGrid 121492 3 # CCDS CCDS10962 -. [Q8WXH2-1] # ChiTaRS JPH3 human # DISEASE JPH3_HUMAN Huntington disease-like 2 (HDL2) [MIM 606438] Huntington disease (HD) is a neurodegenerative disorder resulting primarily from the loss of medium spiny projection neurons in the striatum, especially in the caudate nucleus, and, to a lesser extent, atrophy of mesencephalic and cortical structures. The typical clinical picture of HD combines familial adult onset chorea and subcortical dementia that usually begin during the fourth decade of life. {ECO 0000269|PubMed 11914418, ECO 0000269|PubMed 14557581}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DOMAIN JPH3_HUMAN The MORN (membrane occupation and recognition nexus) repeats contribute to the plasma membrane binding, possibly by interacting with phospholipids. {ECO 0000250}. # Ensembl ENST00000284262 ENSP00000284262; ENSG00000154118. [Q8WXH2-1] # FUNCTION JPH3_HUMAN Junctophilins contribute to the formation of junctional membrane complexes (JMCs) which link the plasma membrane with the endoplasmic or sarcoplasmic reticulum in excitable cells. Provides a structural foundation for functional cross-talk between the cell surface and intracellular calcium release channels. JPH3 is brain- specific and appears to have an active role in certain neurons involved in motor coordination and memory. # GO_component GO:0005886 plasma membrane; IEA:UniProtKB-SubCell. # GO_component GO:0014701 junctional sarcoplasmic reticulum membrane; TAS:BHF-UCL. # GO_component GO:0016021 integral component of membrane; NAS:UniProtKB. # GO_component GO:0030314 junctional membrane complex; IEA:Ensembl. # GO_function GO:0015278 calcium-release channel activity; IEA:Ensembl. # GO_process GO:0007612 learning; IEA:Ensembl. # GO_process GO:0007613 memory; IEA:Ensembl. # GO_process GO:0035640 exploration behavior; IEA:Ensembl. # GO_process GO:0040011 locomotion; IEA:Ensembl. # GO_process GO:0048168 regulation of neuronal synaptic plasticity; IEA:Ensembl. # GO_process GO:0050885 neuromuscular process controlling balance; IEA:Ensembl. # GO_process GO:0060314 regulation of ryanodine-sensitive calcium-release channel activity; TAS:BHF-UCL. # GO_process GO:0060402 calcium ion transport into cytosol; TAS:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043234 protein complex # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0040011 locomotion # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0050877 neurological system process # Genevisible Q8WXH2 HS # HGNC HGNC:14203 JPH3 # IntAct Q8WXH2 2 # InterPro IPR003409 MORN # InterPro IPR017191 Junctophilin # KEGG_Disease H00832 [Nervous system disease] Pantothenate kinase associated neurodegeneration (PKAN) # KEGG_Disease H01243 [Neurodegenerative disease] Huntington's disease-like syndrome # MIM 605268 gene # MIM 606438 phenotype # Organism JPH3_HUMAN Homo sapiens (Human) # Orphanet 98934 Huntington disease-like 2 # PIRSF PIRSF037387 Junctophilin # POLYMORPHISM JPH3_HUMAN Isoform 2 length of the poly-Ala region is variable (6 to 27 CTG/CAG triplets) in the normal population and may be expanded (41 to 58 CTG/CAG triplets) in patients suffering from Huntington disease-like type 2. # Pfam PF02493 MORN; 8 # Proteomes UP000005640 Chromosome 16 # RecName JPH3_HUMAN Junctophilin-3 # RefSeq NP_065706 NM_020655.3. [Q8WXH2-1] # SIMILARITY Belongs to the junctophilin family. {ECO 0000305}. # SIMILARITY Contains 8 MORN repeats. {ECO 0000305}. # SMART SM00698 MORN; 7 # SUBCELLULAR LOCATION JPH3_HUMAN Cell membrane {ECO 0000250}; Peripheral membrane protein {ECO 0000250}. Endoplasmic reticulum membrane {ECO 0000250}; Single-pass type IV membrane protein {ECO 0000250}. Note=Localized predominantly on the plasma membrane. The transmembrane domain is anchored in endoplasmic reticulum membrane, while the N-terminal part associates with the plasma membrane (By similarity). {ECO 0000250}. # TISSUE SPECIFICITY Specifically expressed in brain. {ECO:0000269|PubMed 10891348}. # UCSC uc002fkd human. [Q8WXH2-1] # eggNOG COG4642 LUCA # eggNOG KOG0231 Eukaryota BLAST swissprot:JPH3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:JPH3_HUMAN BioCyc ZFISH:ENSG00000154118-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000154118-MONOMER COXPRESdb 57338 http://coxpresdb.jp/data/gene/57338.shtml CleanEx HS_JPH3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_JPH3 DOI 10.1006/bbrc.2000.3011 http://dx.doi.org/10.1006/bbrc.2000.3011 DOI 10.1038/ng760 http://dx.doi.org/10.1038/ng760 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1212/01.WNL.0000085866.68470.6D http://dx.doi.org/10.1212/01.WNL.0000085866.68470.6D DOI 10.1212/WNL.58.6.965 http://dx.doi.org/10.1212/WNL.58.6.965 EMBL AB042636 http://www.ebi.ac.uk/ena/data/view/AB042636 EMBL AB042640 http://www.ebi.ac.uk/ena/data/view/AB042640 EMBL AF429315 http://www.ebi.ac.uk/ena/data/view/AF429315 EMBL BC036533 http://www.ebi.ac.uk/ena/data/view/BC036533 EMBL BE042890 http://www.ebi.ac.uk/ena/data/view/BE042890 EMBL CH471114 http://www.ebi.ac.uk/ena/data/view/CH471114 EMBL CH471114 http://www.ebi.ac.uk/ena/data/view/CH471114 Ensembl ENST00000284262 http://www.ensembl.org/id/ENST00000284262 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0014701 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014701 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0030314 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030314 GO_function GO:0015278 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015278 GO_process GO:0007612 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007612 GO_process GO:0007613 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007613 GO_process GO:0035640 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035640 GO_process GO:0040011 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0040011 GO_process GO:0048168 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048168 GO_process GO:0050885 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050885 GO_process GO:0060314 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060314 GO_process GO:0060402 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060402 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0040011 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0040011 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GeneCards JPH3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=JPH3 GeneID 57338 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=57338 GeneTree ENSGT00730000110639 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00730000110639 H-InvDB HIX0013325 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0013325 HGNC HGNC:14203 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:14203 HOGENOM HOG000264244 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000264244&db=HOGENOM6 HOVERGEN HBG031648 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG031648&db=HOVERGEN InParanoid Q8WXH2 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8WXH2 IntAct Q8WXH2 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q8WXH2* InterPro IPR003409 http://www.ebi.ac.uk/interpro/entry/IPR003409 InterPro IPR017191 http://www.ebi.ac.uk/interpro/entry/IPR017191 Jabion 57338 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=57338 KEGG_Disease H00832 http://www.genome.jp/dbget-bin/www_bget?H00832 KEGG_Disease H01243 http://www.genome.jp/dbget-bin/www_bget?H01243 KEGG_Gene hsa:57338 http://www.genome.jp/dbget-bin/www_bget?hsa:57338 MIM 605268 http://www.ncbi.nlm.nih.gov/omim/605268 MIM 606438 http://www.ncbi.nlm.nih.gov/omim/606438 MINT MINT-1208946 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1208946 OMA HPQKRRY http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=HPQKRRY Orphanet 98934 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=98934 OrthoDB EOG091G03WX http://cegg.unige.ch/orthodb/results?searchtext=EOG091G03WX PSORT swissprot:JPH3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:JPH3_HUMAN PSORT-B swissprot:JPH3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:JPH3_HUMAN PSORT2 swissprot:JPH3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:JPH3_HUMAN Pfam PF02493 http://pfam.xfam.org/family/PF02493 PharmGKB PA30000 http://www.pharmgkb.org/do/serve?objId=PA30000&objCls=Gene Phobius swissprot:JPH3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:JPH3_HUMAN PhylomeDB Q8WXH2 http://phylomedb.org/?seqid=Q8WXH2 ProteinModelPortal Q8WXH2 http://www.proteinmodelportal.org/query/uniprot/Q8WXH2 PubMed 10891348 http://www.ncbi.nlm.nih.gov/pubmed/10891348 PubMed 11694876 http://www.ncbi.nlm.nih.gov/pubmed/11694876 PubMed 11914418 http://www.ncbi.nlm.nih.gov/pubmed/11914418 PubMed 14557581 http://www.ncbi.nlm.nih.gov/pubmed/14557581 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 RefSeq NP_065706 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_065706 SMART SM00698 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00698 SMR Q8WXH2 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q8WXH2 STRING 9606.ENSP00000284262 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000284262&targetmode=cogs UCSC uc002fkd http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002fkd&org=rat UniGene Hs.592068 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.592068 UniGene Hs.733790 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.733790 UniProtKB JPH3_HUMAN http://www.uniprot.org/uniprot/JPH3_HUMAN UniProtKB-AC Q8WXH2 http://www.uniprot.org/uniprot/Q8WXH2 charge swissprot:JPH3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:JPH3_HUMAN eggNOG COG4642 http://eggnogapi.embl.de/nog_data/html/tree/COG4642 eggNOG KOG0231 http://eggnogapi.embl.de/nog_data/html/tree/KOG0231 epestfind swissprot:JPH3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:JPH3_HUMAN garnier swissprot:JPH3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:JPH3_HUMAN helixturnhelix swissprot:JPH3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:JPH3_HUMAN hmoment swissprot:JPH3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:JPH3_HUMAN iep swissprot:JPH3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:JPH3_HUMAN inforesidue swissprot:JPH3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:JPH3_HUMAN neXtProt NX_Q8WXH2 http://www.nextprot.org/db/entry/NX_Q8WXH2 octanol swissprot:JPH3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:JPH3_HUMAN pepcoil swissprot:JPH3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:JPH3_HUMAN pepdigest swissprot:JPH3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:JPH3_HUMAN pepinfo swissprot:JPH3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:JPH3_HUMAN pepnet swissprot:JPH3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:JPH3_HUMAN pepstats swissprot:JPH3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:JPH3_HUMAN pepwheel swissprot:JPH3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:JPH3_HUMAN pepwindow swissprot:JPH3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:JPH3_HUMAN sigcleave swissprot:JPH3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:JPH3_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS ANO2_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NQ90-1; Sequence=Displayed; Note=Splice site between exons 4 and 5 is non-canonical.; Name=2; IsoId=Q9NQ90-2; Sequence=VSP_040493, VSP_040494; Note=Splice site between exons 4 and 5 is non-canonical.; # AltName ANO2_HUMAN Transmembrane protein 16B # CCDS CCDS44807 -. [Q9NQ90-2] # ChiTaRS ANO2 human # ENZYME REGULATION Channel activity is repressed by chloride inhibitors; strongly by niflumic acid (NFA), partially by flufenamic acid (FFA), and only slightly by meclofenamic acid (MFA), 5-Nitro-2-(3-phenylpropylamino)benzoic acid (NPPB), 4- acetamido-4'-isothiocyanato-stilben-2,2'-disulfonate (SITS), and 4,4'-diisothiocyanatostilbene-2,2'-disulfonic acid (DIDS). {ECO 0000250}. # Ensembl ENST00000327087 ENSP00000314048; ENSG00000047617. [Q9NQ90-2] # Ensembl ENST00000356134 ENSP00000348453; ENSG00000047617. [Q9NQ90-2] # ExpressionAtlas Q9NQ90 baseline and differential # FUNCTION ANO2_HUMAN Calcium-activated chloride channel (CaCC) which may play a role in olfactory signal transduction. Odorant molecules bind to odor-sensing receptors (OSRs), leading to an increase in calcium entry that activates CaCC current which amplifies the depolarization of the OSR cells, ANO2 seems to be the underlying chloride channel involved in this process. May mediate light perception amplification in retina. {ECO 0000269|PubMed 19474308, ECO 0000269|PubMed 20056604, ECO 0000269|PubMed 21890523, ECO 0000269|PubMed 21984732}. # GO_component GO:0005654 nucleoplasm; IDA:HPA. # GO_component GO:0005886 plasma membrane; ISS:UniProtKB. # GO_component GO:0034707 chloride channel complex; IEA:UniProtKB-KW. # GO_function GO:0005229 intracellular calcium activated chloride channel activity; IDA:UniProtKB. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005654 nucleoplasm # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0055085 transmembrane transport # Genevisible Q9NQ90 HS # HGNC HGNC:1183 ANO2 # InterPro IPR007632 Anoctamin # InterPro IPR031288 Anoctamin-2 # InterPro IPR032394 Anoct_dimer # MIM 610109 gene # MISCELLANEOUS ANO2_HUMAN The term 'anoctamin' was coined because these channels are anion selective and have eight (OCT) transmembrane segments. There is some dissatisfaction in the field with the Ano nomenclature because it is not certain that all the members of this family are anion channels or have the 8-transmembrane topology. # Organism ANO2_HUMAN Homo sapiens (Human) # PANTHER PTHR12308 PTHR12308; 2 # PANTHER PTHR12308:SF20 PTHR12308:SF20; 2 # Pfam PF04547 Anoctamin # Pfam PF16178 Anoct_dimer # Proteomes UP000005640 Chromosome 12 # Reactome R-HSA-2672351 Stimuli-sensing channels # RecName ANO2_HUMAN Anoctamin-2 # RefSeq NP_001265525 NM_001278596.1. [Q9NQ90-1] # RefSeq NP_001265526 NM_001278597.1. [Q9NQ90-2] # SEQUENCE CAUTION Sequence=BAB14773.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the anoctamin family. {ECO 0000305}. # SUBCELLULAR LOCATION ANO2_HUMAN Cell membrane {ECO 0000269|PubMed 20056604}; Multi-pass membrane protein {ECO 0000269|PubMed 20056604}. # SUBUNIT Component of a presynaptic protein complex recruited to specialized plasma membrane domains of photoreceptors. Interacts with DLG4 by its C-terminal region (By similarity). {ECO 0000250}. # TCDB 1.A.17.1 the calcium-dependent chloride channel (ca-clc) family # TISSUE SPECIFICITY Retina, especially in the photoreceptor synaptic terminals. {ECO:0000269|PubMed 19474308}. # UCSC uc058kbk human. [Q9NQ90-1] # eggNOG ENOG410XS4S LUCA # eggNOG KOG2514 Eukaryota BLAST swissprot:ANO2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ANO2_HUMAN BioCyc ZFISH:ENSG00000047617-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000047617-MONOMER COXPRESdb 57101 http://coxpresdb.jp/data/gene/57101.shtml CleanEx HS_ANO2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ANO2 DOI 10.1007/s00424-011-0975-9 http://dx.doi.org/10.1007/s00424-011-0975-9 DOI 10.1038/aps.2011.48 http://dx.doi.org/10.1038/aps.2011.48 DOI 10.1038/nature04569 http://dx.doi.org/10.1038/nature04569 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.M109.065367 http://dx.doi.org/10.1074/jbc.M109.065367 DOI 10.1113/expphysiol.2011.058198 http://dx.doi.org/10.1113/expphysiol.2011.058198 DOI 10.1113/expphysiol.2011.058214 http://dx.doi.org/10.1113/expphysiol.2011.058214 DOI 10.1113/expphysiol.2011.058230 http://dx.doi.org/10.1113/expphysiol.2011.058230 DOI 10.1523/JNEUROSCI.5546-08.2009 http://dx.doi.org/10.1523/JNEUROSCI.5546-08.2009 EMBL AC006431 http://www.ebi.ac.uk/ena/data/view/AC006431 EMBL AC006560 http://www.ebi.ac.uk/ena/data/view/AC006560 EMBL AC137627 http://www.ebi.ac.uk/ena/data/view/AC137627 EMBL AJ272204 http://www.ebi.ac.uk/ena/data/view/AJ272204 EMBL AK024010 http://www.ebi.ac.uk/ena/data/view/AK024010 EMBL FJ384095 http://www.ebi.ac.uk/ena/data/view/FJ384095 Ensembl ENST00000327087 http://www.ensembl.org/id/ENST00000327087 Ensembl ENST00000356134 http://www.ensembl.org/id/ENST00000356134 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0034707 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034707 GO_function GO:0005229 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005229 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards ANO2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ANO2 GeneID 57101 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=57101 GeneTree ENSGT00760000119015 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119015 HGNC HGNC:1183 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:1183 HOGENOM HOG000006509 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000006509&db=HOGENOM6 HOVERGEN HBG069519 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG069519&db=HOVERGEN HPA HPA036276 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA036276 InParanoid Q9NQ90 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9NQ90 InterPro IPR007632 http://www.ebi.ac.uk/interpro/entry/IPR007632 InterPro IPR031288 http://www.ebi.ac.uk/interpro/entry/IPR031288 InterPro IPR032394 http://www.ebi.ac.uk/interpro/entry/IPR032394 Jabion 57101 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=57101 KEGG_Gene hsa:57101 http://www.genome.jp/dbget-bin/www_bget?hsa:57101 MIM 610109 http://www.ncbi.nlm.nih.gov/omim/610109 PANTHER PTHR12308 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12308 PANTHER PTHR12308:SF20 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12308:SF20 PSORT swissprot:ANO2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ANO2_HUMAN PSORT-B swissprot:ANO2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ANO2_HUMAN PSORT2 swissprot:ANO2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ANO2_HUMAN Pfam PF04547 http://pfam.xfam.org/family/PF04547 Pfam PF16178 http://pfam.xfam.org/family/PF16178 PharmGKB PA25504 http://www.pharmgkb.org/do/serve?objId=PA25504&objCls=Gene Phobius swissprot:ANO2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ANO2_HUMAN PhylomeDB Q9NQ90 http://phylomedb.org/?seqid=Q9NQ90 ProteinModelPortal Q9NQ90 http://www.proteinmodelportal.org/query/uniprot/Q9NQ90 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 16541075 http://www.ncbi.nlm.nih.gov/pubmed/16541075 PubMed 19474308 http://www.ncbi.nlm.nih.gov/pubmed/19474308 PubMed 20056604 http://www.ncbi.nlm.nih.gov/pubmed/20056604 PubMed 21607626 http://www.ncbi.nlm.nih.gov/pubmed/21607626 PubMed 21642943 http://www.ncbi.nlm.nih.gov/pubmed/21642943 PubMed 21890523 http://www.ncbi.nlm.nih.gov/pubmed/21890523 PubMed 21984732 http://www.ncbi.nlm.nih.gov/pubmed/21984732 PubMed 22302790 http://www.ncbi.nlm.nih.gov/pubmed/22302790 Reactome R-HSA-2672351 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2672351 RefSeq NP_001265525 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001265525 RefSeq NP_001265526 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001265526 STRING 9606.ENSP00000314048 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000314048&targetmode=cogs TCDB 1.A.17.1 http://www.tcdb.org/search/result.php?tc=1.A.17.1 UCSC uc058kbk http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc058kbk&org=rat UniGene Hs.148970 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.148970 UniProtKB ANO2_HUMAN http://www.uniprot.org/uniprot/ANO2_HUMAN UniProtKB-AC Q9NQ90 http://www.uniprot.org/uniprot/Q9NQ90 charge swissprot:ANO2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ANO2_HUMAN eggNOG ENOG410XS4S http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XS4S eggNOG KOG2514 http://eggnogapi.embl.de/nog_data/html/tree/KOG2514 epestfind swissprot:ANO2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ANO2_HUMAN garnier swissprot:ANO2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ANO2_HUMAN helixturnhelix swissprot:ANO2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ANO2_HUMAN hmoment swissprot:ANO2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ANO2_HUMAN iep swissprot:ANO2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ANO2_HUMAN inforesidue swissprot:ANO2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ANO2_HUMAN neXtProt NX_Q9NQ90 http://www.nextprot.org/db/entry/NX_Q9NQ90 octanol swissprot:ANO2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ANO2_HUMAN pepcoil swissprot:ANO2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ANO2_HUMAN pepdigest swissprot:ANO2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ANO2_HUMAN pepinfo swissprot:ANO2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ANO2_HUMAN pepnet swissprot:ANO2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ANO2_HUMAN pepstats swissprot:ANO2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ANO2_HUMAN pepwheel swissprot:ANO2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ANO2_HUMAN pepwindow swissprot:ANO2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ANO2_HUMAN sigcleave swissprot:ANO2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ANO2_HUMAN ## Database ID URL or Descriptions # AltName P2RX1_HUMAN ATP receptor # AltName P2RX1_HUMAN Purinergic receptor # BioGrid 111062 14 # ChiTaRS P2RX1 human # Ensembl ENST00000225538 ENSP00000225538; ENSG00000108405 # ExpressionAtlas P51575 baseline and differential # FUNCTION P2RX1_HUMAN Ligand-gated ion channel with relatively high calcium permeability. Binding to ATP mediates synaptic transmission between neurons and from neurons to smooth muscle. Seems to be linked to apoptosis, by increasing the intracellular concentration of calcium in the presence of ATP, leading to programmed cell death (By similarity). {ECO 0000250}. # GO_component GO:0005639 integral component of nuclear inner membrane; IBA:GO_Central. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0031240 external side of cell outer membrane; IEA:Ensembl. # GO_component GO:0043005 neuron projection; IEA:Ensembl. # GO_component GO:0043234 protein complex; IEA:Ensembl. # GO_component GO:0045121 membrane raft; IEA:Ensembl. # GO_component GO:0045211 postsynaptic membrane; IEA:Ensembl. # GO_function GO:0001614 purinergic nucleotide receptor activity; IDA:MGI. # GO_function GO:0004931 extracellular ATP-gated cation channel activity; TAS:ProtInc. # GO_function GO:0005261 cation channel activity; IDA:MGI. # GO_function GO:0005524 ATP binding; IEA:Ensembl. # GO_function GO:0008144 drug binding; IEA:Ensembl. # GO_function GO:0008270 zinc ion binding; IEA:Ensembl. # GO_process GO:0002554 serotonin secretion by platelet; IEA:Ensembl. # GO_process GO:0003056 regulation of vascular smooth muscle contraction; IEA:Ensembl. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0006811 ion transport; IDA:MGI. # GO_process GO:0006915 apoptotic process; IEA:UniProtKB-KW. # GO_process GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process; IEA:Ensembl. # GO_process GO:0007165 signal transduction; TAS:ProtInc. # GO_process GO:0007320 insemination; IEA:Ensembl. # GO_process GO:0007596 blood coagulation; TAS:Reactome. # GO_process GO:0008217 regulation of blood pressure; IEA:Ensembl. # GO_process GO:0019228 neuronal action potential; IEA:Ensembl. # GO_process GO:0030168 platelet activation; IEA:Ensembl. # GO_process GO:0033198 response to ATP; IEA:Ensembl. # GO_process GO:0035249 synaptic transmission, glutamatergic; IEA:Ensembl. # GO_process GO:0042310 vasoconstriction; IEA:Ensembl. # GO_process GO:0043270 positive regulation of ion transport; IEA:Ensembl. # GO_process GO:0046513 ceramide biosynthetic process; IEA:Ensembl. # GO_process GO:0051260 protein homooligomerization; IEA:Ensembl. # GO_process GO:0051291 protein heterooligomerization; IEA:Ensembl. # GO_process GO:0051924 regulation of calcium ion transport; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0003013 circulatory system process # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006629 lipid metabolic process # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # GOslim_process GO:0008219 cell death # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # Gene3D 2.60.490.10 -; 1. # Genevisible P51575 HS # HGNC HGNC:8533 P2RX1 # InterPro IPR001429 P2X_purnocptor # InterPro IPR003044 P2X1_purnocptor # InterPro IPR027309 P2X_extracellular_dom # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04020 Calcium signaling pathway # KEGG_Pathway ko04080 Neuroactive ligand-receptor interaction # MIM 600845 gene+phenotype # Organism P2RX1_HUMAN Homo sapiens (Human) # PANTHER PTHR10125 PTHR10125 # PANTHER PTHR10125:SF9 PTHR10125:SF9 # PIR S71927 S71927 # PIRSF PIRSF005713 P2X_purinoceptor # PRINTS PR01307 P2XRECEPTOR # PRINTS PR01308 P2X1RECEPTOR # PROSITE PS01212 P2X_RECEPTOR # Pfam PF00864 P2X_receptor # Proteomes UP000005640 Chromosome 17 # Reactome R-HSA-139853 Elevation of cytosolic Ca2+ levels # Reactome R-HSA-418346 Platelet homeostasis # Reactome R-HSA-6798695 Neutrophil degranulation # RecName P2RX1_HUMAN P2X purinoceptor 1 # RefSeq NP_002549 NM_002558.3 # SIMILARITY Belongs to the P2X receptor family. {ECO 0000305}. # SUBCELLULAR LOCATION P2RX1_HUMAN Membrane; Multi-pass membrane protein. # SUBUNIT Homo- or heteropolymers. {ECO 0000250}. # TIGRFAMs TIGR00863 P2X # UCSC uc002fww human # WEB RESOURCE P2RX1_HUMAN Name=Wikipedia; Note=P2RX1 entry; URL="http //en.wikipedia.org/wiki/P2RX1"; # WEB RESOURCE P2RX1_HUMAN Name=Wikipedia; Note=P2X receptor entry; URL="https //en.wikipedia.org/wiki/P2X_receptor"; # eggNOG ENOG410IFJF Eukaryota # eggNOG ENOG410XR0C LUCA BLAST swissprot:P2RX1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:P2RX1_HUMAN BioCyc ZFISH:ENSG00000108405-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000108405-MONOMER COXPRESdb 5023 http://coxpresdb.jp/data/gene/5023.shtml CleanEx HS_P2RX1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_P2RX1 DOI 10.1016/0167-4781(96)00112-1 http://dx.doi.org/10.1016/0167-4781(96)00112-1 DOI 10.1074/jbc.273.19.11544 http://dx.doi.org/10.1074/jbc.273.19.11544 DOI 10.1074/jbc.C000305200 http://dx.doi.org/10.1074/jbc.C000305200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/jnc.12012 http://dx.doi.org/10.1111/jnc.12012 DOI 10.1124/mol.61.2.303 http://dx.doi.org/10.1124/mol.61.2.303 EMBL AF020498 http://www.ebi.ac.uk/ena/data/view/AF020498 EMBL AF177472 http://www.ebi.ac.uk/ena/data/view/AF177472 EMBL BC044657 http://www.ebi.ac.uk/ena/data/view/BC044657 EMBL U45448 http://www.ebi.ac.uk/ena/data/view/U45448 EMBL X83688 http://www.ebi.ac.uk/ena/data/view/X83688 Ensembl ENST00000225538 http://www.ensembl.org/id/ENST00000225538 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005639 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005639 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0031240 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031240 GO_component GO:0043005 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043005 GO_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GO_component GO:0045121 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045121 GO_component GO:0045211 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045211 GO_function GO:0001614 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001614 GO_function GO:0004931 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004931 GO_function GO:0005261 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005261 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0008144 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008144 GO_function GO:0008270 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008270 GO_process GO:0002554 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002554 GO_process GO:0003056 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003056 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0006811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006811 GO_process GO:0006915 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006915 GO_process GO:0006919 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006919 GO_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GO_process GO:0007320 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007320 GO_process GO:0007596 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007596 GO_process GO:0008217 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008217 GO_process GO:0019228 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019228 GO_process GO:0030168 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030168 GO_process GO:0033198 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033198 GO_process GO:0035249 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035249 GO_process GO:0042310 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042310 GO_process GO:0043270 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043270 GO_process GO:0046513 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046513 GO_process GO:0051260 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051260 GO_process GO:0051291 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051291 GO_process GO:0051924 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051924 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0003013 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003013 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006629 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006629 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0008219 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008219 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 Gene3D 2.60.490.10 http://www.cathdb.info/version/latest/superfamily/2.60.490.10 GeneCards P2RX1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=P2RX1 GeneID 5023 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=5023 GeneTree ENSGT00390000016028 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000016028 HGNC HGNC:8533 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:8533 HOGENOM HOG000232042 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000232042&db=HOGENOM6 HOVERGEN HBG053086 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG053086&db=HOVERGEN HPA CAB006813 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB006813 InParanoid P51575 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P51575 IntAct P51575 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P51575* InterPro IPR001429 http://www.ebi.ac.uk/interpro/entry/IPR001429 InterPro IPR003044 http://www.ebi.ac.uk/interpro/entry/IPR003044 InterPro IPR027309 http://www.ebi.ac.uk/interpro/entry/IPR027309 Jabion 5023 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=5023 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:5023 http://www.genome.jp/dbget-bin/www_bget?hsa:5023 KEGG_Orthology KO:K05215 http://www.genome.jp/dbget-bin/www_bget?KO:K05215 KEGG_Pathway ko04020 http://www.genome.jp/kegg-bin/show_pathway?ko04020 KEGG_Pathway ko04080 http://www.genome.jp/kegg-bin/show_pathway?ko04080 MIM 600845 http://www.ncbi.nlm.nih.gov/omim/600845 OMA FKYAEDM http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=FKYAEDM OrthoDB EOG091G0A2U http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0A2U PANTHER PTHR10125 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10125 PANTHER PTHR10125:SF9 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10125:SF9 PRINTS PR01307 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01307 PRINTS PR01308 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01308 PROSITE PS01212 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS01212 PSORT swissprot:P2RX1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:P2RX1_HUMAN PSORT-B swissprot:P2RX1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:P2RX1_HUMAN PSORT2 swissprot:P2RX1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:P2RX1_HUMAN Pfam PF00864 http://pfam.xfam.org/family/PF00864 PharmGKB PA32861 http://www.pharmgkb.org/do/serve?objId=PA32861&objCls=Gene Phobius swissprot:P2RX1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:P2RX1_HUMAN PhylomeDB P51575 http://phylomedb.org/?seqid=P51575 ProteinModelPortal P51575 http://www.proteinmodelportal.org/query/uniprot/P51575 PubMed 10816552 http://www.ncbi.nlm.nih.gov/pubmed/10816552 PubMed 11809854 http://www.ncbi.nlm.nih.gov/pubmed/11809854 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 22971236 http://www.ncbi.nlm.nih.gov/pubmed/22971236 PubMed 8809107 http://www.ncbi.nlm.nih.gov/pubmed/8809107 PubMed 8834001 http://www.ncbi.nlm.nih.gov/pubmed/8834001 PubMed 9565569 http://www.ncbi.nlm.nih.gov/pubmed/9565569 Reactome R-HSA-139853 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-139853 Reactome R-HSA-418346 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-418346 Reactome R-HSA-6798695 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6798695 RefSeq NP_002549 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_002549 SMR P51575 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P51575 STRING 9606.ENSP00000225538 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000225538&targetmode=cogs TIGRFAMs TIGR00863 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00863 UCSC uc002fww http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002fww&org=rat UniGene Hs.41735 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.41735 UniProtKB P2RX1_HUMAN http://www.uniprot.org/uniprot/P2RX1_HUMAN UniProtKB-AC P51575 http://www.uniprot.org/uniprot/P51575 charge swissprot:P2RX1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:P2RX1_HUMAN eggNOG ENOG410IFJF http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IFJF eggNOG ENOG410XR0C http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XR0C epestfind swissprot:P2RX1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:P2RX1_HUMAN garnier swissprot:P2RX1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:P2RX1_HUMAN helixturnhelix swissprot:P2RX1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:P2RX1_HUMAN hmoment swissprot:P2RX1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:P2RX1_HUMAN iep swissprot:P2RX1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:P2RX1_HUMAN inforesidue swissprot:P2RX1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:P2RX1_HUMAN neXtProt NX_P51575 http://www.nextprot.org/db/entry/NX_P51575 octanol swissprot:P2RX1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:P2RX1_HUMAN pepcoil swissprot:P2RX1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:P2RX1_HUMAN pepdigest swissprot:P2RX1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:P2RX1_HUMAN pepinfo swissprot:P2RX1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:P2RX1_HUMAN pepnet swissprot:P2RX1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:P2RX1_HUMAN pepstats swissprot:P2RX1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:P2RX1_HUMAN pepwheel swissprot:P2RX1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:P2RX1_HUMAN pepwindow swissprot:P2RX1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:P2RX1_HUMAN sigcleave swissprot:P2RX1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:P2RX1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS NCKX4_HUMAN Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q8NFF2-1; Sequence=Displayed; Name=2; IsoId=Q8NFF2-2; Sequence=VSP_008369; Name=3; IsoId=Q8NFF2-3; Sequence=VSP_008372; Name=4; IsoId=Q8NFF2-4; Sequence=VSP_008370, VSP_008371; Note=No experimental confirmation available.; # AltName NCKX4_HUMAN Na(+)/K(+)/Ca(2+)-exchange protein 4 # AltName NCKX4_HUMAN Solute carrier family 24 member 4 # CAUTION It is uncertain whether Met-1 or Met-18 is the initiator. {ECO 0000305}. # CCDS CCDS45155 -. [Q8NFF2-3] # CCDS CCDS45156 -. [Q8NFF2-2] # CCDS CCDS9903 -. [Q8NFF2-1] # DISEASE NCKX4_HUMAN Amelogenesis imperfecta, hypomaturation type, 2A5 (AI2A5) [MIM 615887] A defect of enamel formation. The disorder involves both primary and secondary dentitions. The teeth have a shiny agar jelly appearance and the enamel is softer than normal. Brown pigment is present in middle layers of enamel. {ECO 0000269|PubMed 23375655, ECO 0000269|PubMed 24621671}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000393265 ENSP00000376948; ENSG00000140090. [Q8NFF2-2] # Ensembl ENST00000531433 ENSP00000433302; ENSG00000140090. [Q8NFF2-3] # Ensembl ENST00000532405 ENSP00000431840; ENSG00000140090. [Q8NFF2-1] # ExpressionAtlas Q8NFF2 baseline and differential # FUNCTION NCKX4_HUMAN Transports 1 Ca(2+) and 1 K(+) in exchange for 4 Na(+). Controls the rapid response termination and proper regulation of adaptation in olfactory sensory neurons (OSNs) which subsequently influences how odor information is encoded and perceived. May play a role in calcium transport during amelogenesis (By similarity). {ECO 0000250|UniProtKB Q8CGQ8}. # GO_component GO:0005737 cytoplasm; ISS:UniProtKB. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0016020 membrane; ISS:UniProtKB. # GO_function GO:0005262 calcium channel activity; IBA:GO_Central. # GO_function GO:0005509 calcium ion binding; IBA:GO_Central. # GO_function GO:0015293 symporter activity; IEA:UniProtKB-KW. # GO_function GO:0030955 potassium ion binding; IBA:GO_Central. # GO_function GO:0031402 sodium ion binding; IBA:GO_Central. # GO_function NCKX4_HUMAN GO 0008273 calcium, potassium sodium antiporter activity; IBA GO_Central. # GO_process GO:0006811 ion transport; TAS:Reactome. # GO_process GO:0006874 cellular calcium ion homeostasis; IBA:GO_Central. # GO_process GO:0007608 sensory perception of smell; ISS:UniProtKB. # GO_process GO:0050896 response to stimulus; IEA:UniProtKB-KW. # GO_process GO:0097186 amelogenesis; ISS:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0048646 anatomical structure formation involved in morphogenesis # GOslim_process GO:0050877 neurological system process # Genevisible Q8NFF2 HS # HGNC HGNC:10978 SLC24A4 # InterPro IPR004481 K/Na/Ca-exchanger # InterPro IPR004837 NaCa_Exmemb # InterPro IPR030232 SLC24A4 # KEGG_Brite ko02001 Solute carrier family # MIM 210750 phenotype # MIM 609840 gene # MIM 615887 phenotype # Organism NCKX4_HUMAN Homo sapiens (Human) # Orphanet 100032 Hypocalcified amelogenesis imperfecta # Orphanet 100033 Hypomaturation amelogenesis imperfecta # PANTHER PTHR10846 PTHR10846 # PANTHER PTHR10846:SF21 PTHR10846:SF21 # POLYMORPHISM Genetic variants in SLC24A4 define the skin/hair/eye pigmentation variation locus 6 (SHEP6) [MIM:210750]. Hair, eye and skin pigmentation are among the most visible examples of human phenotypic variation, with a broad normal range that is subject to substantial geographic stratification. In the case of skin, individuals tend to have lighter pigmentation with increasing distance from the equator. By contrast, the majority of variation in human eye and hair color is found among individuals of European ancestry, with most other human populations fixed for brown eyes and black hair. {ECO 0000269|PubMed:17952075}. # Pfam PF01699 Na_Ca_ex; 2 # Proteomes UP000005640 Chromosome 14 # Reactome R-HSA-425561 Sodium/Calcium exchangers # RecName NCKX4_HUMAN Sodium/potassium/calcium exchanger 4 # RefSeq NP_705932 NM_153646.3. [Q8NFF2-1] # RefSeq NP_705933 NM_153647.3. [Q8NFF2-3] # RefSeq NP_705934 NM_153648.3. [Q8NFF2-2] # RefSeq XP_011534743 XM_011536441.2 # RefSeq XP_011534744 XM_011536442.2 # SEQUENCE CAUTION NCKX4_HUMAN Sequence=AAH69653.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; Sequence=AAM76070.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; Sequence=AAM76071.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; Sequence=BAC04715.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO 0000305}; Sequence=CAD38903.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the Ca(2+):cation antiporter (CaCA) (TC 2.A.19) family. SLC24A subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION NCKX4_HUMAN Cytoplasm {ECO 0000250|UniProtKB Q8CGQ8}. Cell membrane {ECO 0000250|UniProtKB Q8CGQ8}; Multi-pass membrane protein {ECO 0000250|UniProtKB Q8CGQ8}. # TCDB 2.A.19.4:the ca(2+) cation antiporter (caca) family # TIGRFAMs TIGR00367 TIGR00367 # TISSUE SPECIFICITY NCKX4_HUMAN Expressed abundantly in all regions of the brain, aorta, lung and thymus. Expressed at lower levels in the stomach and intestine. # UCSC uc001yai human. [Q8NFF2-1] # eggNOG ENOG410Y9YY LUCA # eggNOG KOG1307 Eukaryota BLAST swissprot:NCKX4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:NCKX4_HUMAN COXPRESdb 123041 http://coxpresdb.jp/data/gene/123041.shtml CleanEx HS_SLC24A4 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC24A4 DOI 10.1016/j.ajhg.2013.01.003 http://dx.doi.org/10.1016/j.ajhg.2013.01.003 DOI 10.1038/nature01348 http://dx.doi.org/10.1038/nature01348 DOI 10.1038/ng.2007.13 http://dx.doi.org/10.1038/ng.2007.13 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.M210011200 http://dx.doi.org/10.1074/jbc.M210011200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1177/0022034514527971 http://dx.doi.org/10.1177/0022034514527971 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 EMBL AF520704 http://www.ebi.ac.uk/ena/data/view/AF520704 EMBL AF520705 http://www.ebi.ac.uk/ena/data/view/AF520705 EMBL AF520706 http://www.ebi.ac.uk/ena/data/view/AF520706 EMBL AK096171 http://www.ebi.ac.uk/ena/data/view/AK096171 EMBL AK295059 http://www.ebi.ac.uk/ena/data/view/AK295059 EMBL AL118559 http://www.ebi.ac.uk/ena/data/view/AL118559 EMBL AL834225 http://www.ebi.ac.uk/ena/data/view/AL834225 EMBL BC069653 http://www.ebi.ac.uk/ena/data/view/BC069653 EMBL CH471061 http://www.ebi.ac.uk/ena/data/view/CH471061 Ensembl ENST00000393265 http://www.ensembl.org/id/ENST00000393265 Ensembl ENST00000531433 http://www.ensembl.org/id/ENST00000531433 Ensembl ENST00000532405 http://www.ensembl.org/id/ENST00000532405 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_function GO:0005262 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005262 GO_function GO:0005509 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005509 GO_function GO:0008273 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008273 GO_function GO:0015293 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015293 GO_function GO:0030955 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030955 GO_function GO:0031402 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031402 GO_process GO:0006811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006811 GO_process GO:0006874 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006874 GO_process GO:0007608 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007608 GO_process GO:0050896 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050896 GO_process GO:0097186 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097186 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0048646 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048646 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GeneCards SLC24A4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC24A4 GeneID 123041 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=123041 GeneTree ENSGT00760000119209 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119209 HGNC HGNC:10978 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10978 HOVERGEN HBG054881 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG054881&db=HOVERGEN InParanoid Q8NFF2 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8NFF2 InterPro IPR004481 http://www.ebi.ac.uk/interpro/entry/IPR004481 InterPro IPR004837 http://www.ebi.ac.uk/interpro/entry/IPR004837 InterPro IPR030232 http://www.ebi.ac.uk/interpro/entry/IPR030232 Jabion 123041 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=123041 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:123041 http://www.genome.jp/dbget-bin/www_bget?hsa:123041 KEGG_Orthology KO:K13752 http://www.genome.jp/dbget-bin/www_bget?KO:K13752 MIM 210750 http://www.ncbi.nlm.nih.gov/omim/210750 MIM 609840 http://www.ncbi.nlm.nih.gov/omim/609840 MIM 615887 http://www.ncbi.nlm.nih.gov/omim/615887 OMA SPFSMPE http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=SPFSMPE Orphanet 100032 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=100032 Orphanet 100033 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=100033 OrthoDB EOG091G0M5C http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0M5C PANTHER PTHR10846 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10846 PANTHER PTHR10846:SF21 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10846:SF21 PSORT swissprot:NCKX4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:NCKX4_HUMAN PSORT-B swissprot:NCKX4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:NCKX4_HUMAN PSORT2 swissprot:NCKX4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:NCKX4_HUMAN Pfam PF01699 http://pfam.xfam.org/family/PF01699 PharmGKB PA35854 http://www.pharmgkb.org/do/serve?objId=PA35854&objCls=Gene Phobius swissprot:NCKX4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:NCKX4_HUMAN PhylomeDB Q8NFF2 http://phylomedb.org/?seqid=Q8NFF2 ProteinModelPortal Q8NFF2 http://www.proteinmodelportal.org/query/uniprot/Q8NFF2 PubMed 12379639 http://www.ncbi.nlm.nih.gov/pubmed/12379639 PubMed 12508121 http://www.ncbi.nlm.nih.gov/pubmed/12508121 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 17952075 http://www.ncbi.nlm.nih.gov/pubmed/17952075 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 PubMed 23375655 http://www.ncbi.nlm.nih.gov/pubmed/23375655 PubMed 24621671 http://www.ncbi.nlm.nih.gov/pubmed/24621671 Reactome R-HSA-425561 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-425561 RefSeq NP_705932 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_705932 RefSeq NP_705933 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_705933 RefSeq NP_705934 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_705934 RefSeq XP_011534743 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011534743 RefSeq XP_011534744 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011534744 STRING 9606.ENSP00000431840 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000431840&targetmode=cogs TCDB 2.A.19.4 http://www.tcdb.org/search/result.php?tc=2.A.19.4 TIGRFAMs TIGR00367 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00367 UCSC uc001yai http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001yai&org=rat UniGene Hs.385530 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.385530 UniProtKB NCKX4_HUMAN http://www.uniprot.org/uniprot/NCKX4_HUMAN UniProtKB-AC Q8NFF2 http://www.uniprot.org/uniprot/Q8NFF2 charge swissprot:NCKX4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:NCKX4_HUMAN eggNOG ENOG410Y9YY http://eggnogapi.embl.de/nog_data/html/tree/ENOG410Y9YY eggNOG KOG1307 http://eggnogapi.embl.de/nog_data/html/tree/KOG1307 epestfind swissprot:NCKX4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:NCKX4_HUMAN garnier swissprot:NCKX4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:NCKX4_HUMAN helixturnhelix swissprot:NCKX4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:NCKX4_HUMAN hmoment swissprot:NCKX4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:NCKX4_HUMAN iep swissprot:NCKX4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:NCKX4_HUMAN inforesidue swissprot:NCKX4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:NCKX4_HUMAN neXtProt NX_Q8NFF2 http://www.nextprot.org/db/entry/NX_Q8NFF2 octanol swissprot:NCKX4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:NCKX4_HUMAN pepcoil swissprot:NCKX4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:NCKX4_HUMAN pepdigest swissprot:NCKX4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:NCKX4_HUMAN pepinfo swissprot:NCKX4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:NCKX4_HUMAN pepnet swissprot:NCKX4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:NCKX4_HUMAN pepstats swissprot:NCKX4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:NCKX4_HUMAN pepwheel swissprot:NCKX4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:NCKX4_HUMAN pepwindow swissprot:NCKX4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:NCKX4_HUMAN sigcleave swissprot:NCKX4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:NCKX4_HUMAN ## Database ID URL or Descriptions # AltName KCNA3_HUMAN HGK5 # AltName KCNA3_HUMAN HLK3 # AltName KCNA3_HUMAN HPCN3 # AltName KCNA3_HUMAN Voltage-gated K(+) channel HuKIII # AltName KCNA3_HUMAN Voltage-gated potassium channel subunit Kv1.3 # BioGrid 109941 15 # CAUTION It is uncertain whether Met-1 or Met-53 is the initiator. {ECO 0000305}. # DOMAIN KCNA3_HUMAN The N-terminus may be important in determining the rate of inactivation of the channel while the tail may play a role in modulation of channel activity and/or targeting of the channel to specific subcellular compartments. # DOMAIN KCNA3_HUMAN The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position. # DrugBank DB06637 Dalfampridine # Ensembl ENST00000369769 ENSP00000358784; ENSG00000177272 # FUNCTION KCNA3_HUMAN Mediates the voltage-dependent potassium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a potassium-selective channel through which potassium ions may pass in accordance with their electrochemical gradient. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0008076 voltage-gated potassium channel complex; TAS:ProtInc. # GO_component GO:0030424 axon; IEA:Ensembl. # GO_component GO:0045121 membrane raft; IEA:Ensembl. # GO_function GO:0005244 voltage-gated ion channel activity; TAS:ProtInc. # GO_function GO:0005251 delayed rectifier potassium channel activity; IBA:GO_Central. # GO_function GO:0015271 outward rectifier potassium channel activity; IEA:Ensembl. # GO_process GO:0006813 potassium ion transport; TAS:ProtInc. # GO_process GO:0051260 protein homooligomerization; IEA:InterPro. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # Gene3D 1.20.120.350 -; 1. # Genevisible P22001 HS # HGNC HGNC:6221 KCNA3 # InterPro IPR000210 BTB/POZ_dom # InterPro IPR003131 T1-type_BTB # InterPro IPR003968 K_chnl_volt-dep_Kv # InterPro IPR003972 K_chnl_volt-dep_Kv1 # InterPro IPR004050 K_chnl_volt-dep_Kv1.3 # InterPro IPR005821 Ion_trans_dom # InterPro IPR011333 SKP1/BTB/POZ # InterPro IPR027359 Channel_four-helix_dom # InterPro IPR028325 VG_K_chnl # KEGG_Brite ko04040 Ion channels # MIM 176263 gene # Organism KCNA3_HUMAN Homo sapiens (Human) # PANTHER PTHR11537 PTHR11537 # PDB 4BGC X-ray; 1.20 A; A=104-204 # PIR A38101 A38101 # PRINTS PR00169 KCHANNEL # PRINTS PR01491 KVCHANNEL # PRINTS PR01496 SHAKERCHANEL # PRINTS PR01510 KV13CHANNEL # PTM KCNA3_HUMAN N-glycosylation promotes the cell surface expression. {ECO 0000250}. # Pfam PF00520 Ion_trans # Pfam PF02214 BTB_2 # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-1296072 Voltage gated Potassium channels # RecName KCNA3_HUMAN Potassium voltage-gated channel subfamily A member 3 # RefSeq NP_002223 NM_002232.4 # SEQUENCE CAUTION KCNA3_HUMAN Sequence=AAA36425.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; Sequence=AAA36425.1; Type=Frameshift; Positions=42; Evidence={ECO 0000305}; Sequence=AAA59457.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; Sequence=AAA59457.1; Type=Frameshift; Positions=Several; Evidence={ECO 0000305}; Sequence=AAB88073.1; Type=Erroneous initiation; Evidence={ECO 0000305}; Sequence=AAC31761.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; Sequence=AAC31761.1; Type=Frameshift; Positions=Several; Evidence={ECO 0000305}; # SIMILARITY Belongs to the potassium channel family. A (Shaker) (TC 1.A.1.2) subfamily. Kv1.3/KCNA3 sub-subfamily. {ECO 0000305}. # SMART SM00225 BTB # SUBCELLULAR LOCATION KCNA3_HUMAN Cell membrane {ECO 0000250}; Multi-pass membrane protein. # SUBUNIT Heterotetramer of potassium channel proteins. Binds PDZ domains of DLG1, DLG2 and DLG4 (By similarity). {ECO 0000250}. # SUPFAM SSF54695 SSF54695 # TCDB 1.A.1.2 the voltage-gated ion channel (vic) superfamily # UCSC uc001dzv human # eggNOG COG1226 LUCA # eggNOG KOG1545 Eukaryota BLAST swissprot:KCNA3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCNA3_HUMAN BioCyc ZFISH:ENSG00000177272-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000177272-MONOMER COXPRESdb 3738 http://coxpresdb.jp/data/gene/3738.shtml CleanEx HS_KCNA3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNA3 DIP DIP-44822N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-44822N DOI 10.1006/geno.1994.1500 http://dx.doi.org/10.1006/geno.1994.1500 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1073/pnas.88.1.53 http://dx.doi.org/10.1073/pnas.88.1.53 DOI 10.1089/dna.1992.11.163 http://dx.doi.org/10.1089/dna.1992.11.163 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DrugBank DB06637 http://www.drugbank.ca/drugs/DB06637 EMBL AL365361 http://www.ebi.ac.uk/ena/data/view/AL365361 EMBL BC035059 http://www.ebi.ac.uk/ena/data/view/BC035059 EMBL CH471122 http://www.ebi.ac.uk/ena/data/view/CH471122 EMBL L23499 http://www.ebi.ac.uk/ena/data/view/L23499 EMBL M38217 http://www.ebi.ac.uk/ena/data/view/M38217 EMBL M55515 http://www.ebi.ac.uk/ena/data/view/M55515 EMBL M85217 http://www.ebi.ac.uk/ena/data/view/M85217 Ensembl ENST00000369769 http://www.ensembl.org/id/ENST00000369769 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0008076 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008076 GO_component GO:0030424 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030424 GO_component GO:0045121 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045121 GO_function GO:0005244 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005244 GO_function GO:0005251 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005251 GO_function GO:0015271 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015271 GO_process GO:0006813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006813 GO_process GO:0051260 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051260 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 Gene3D 1.20.120.350 http://www.cathdb.info/version/latest/superfamily/1.20.120.350 GeneCards KCNA3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNA3 GeneID 3738 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=3738 GeneTree ENSGT00760000118846 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118846 HGNC HGNC:6221 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6221 HOGENOM HOG000231015 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231015&db=HOGENOM6 HOVERGEN HBG052230 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052230&db=HOVERGEN HPA HPA016625 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA016625 InParanoid P22001 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P22001 InterPro IPR000210 http://www.ebi.ac.uk/interpro/entry/IPR000210 InterPro IPR003131 http://www.ebi.ac.uk/interpro/entry/IPR003131 InterPro IPR003968 http://www.ebi.ac.uk/interpro/entry/IPR003968 InterPro IPR003972 http://www.ebi.ac.uk/interpro/entry/IPR003972 InterPro IPR004050 http://www.ebi.ac.uk/interpro/entry/IPR004050 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR011333 http://www.ebi.ac.uk/interpro/entry/IPR011333 InterPro IPR027359 http://www.ebi.ac.uk/interpro/entry/IPR027359 InterPro IPR028325 http://www.ebi.ac.uk/interpro/entry/IPR028325 Jabion 3738 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=3738 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:3738 http://www.genome.jp/dbget-bin/www_bget?hsa:3738 KEGG_Orthology KO:K04876 http://www.genome.jp/dbget-bin/www_bget?KO:K04876 MIM 176263 http://www.ncbi.nlm.nih.gov/omim/176263 MINT MINT-1528422 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1528422 OMA KRRMRYF http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=KRRMRYF OrthoDB EOG091G10NU http://cegg.unige.ch/orthodb/results?searchtext=EOG091G10NU PANTHER PTHR11537 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11537 PDB 4BGC http://www.ebi.ac.uk/pdbe-srv/view/entry/4BGC PDBsum 4BGC http://www.ebi.ac.uk/pdbsum/4BGC PRINTS PR00169 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00169 PRINTS PR01491 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01491 PRINTS PR01496 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01496 PRINTS PR01510 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01510 PSORT swissprot:KCNA3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCNA3_HUMAN PSORT-B swissprot:KCNA3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCNA3_HUMAN PSORT2 swissprot:KCNA3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCNA3_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF02214 http://pfam.xfam.org/family/PF02214 PharmGKB PA30021 http://www.pharmgkb.org/do/serve?objId=PA30021&objCls=Gene Phobius swissprot:KCNA3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCNA3_HUMAN PhylomeDB P22001 http://phylomedb.org/?seqid=P22001 ProteinModelPortal P22001 http://www.proteinmodelportal.org/query/uniprot/P22001 PubMed 1373731 http://www.ncbi.nlm.nih.gov/pubmed/1373731 PubMed 1547020 http://www.ncbi.nlm.nih.gov/pubmed/1547020 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 1986382 http://www.ncbi.nlm.nih.gov/pubmed/1986382 PubMed 7829094 http://www.ncbi.nlm.nih.gov/pubmed/7829094 Reactome R-HSA-1296072 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1296072 RefSeq NP_002223 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_002223 SMART SM00225 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00225 SMR P22001 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P22001 STRING 9606.ENSP00000358784 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000358784&targetmode=cogs SUPFAM SSF54695 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF54695 TCDB 1.A.1.2 http://www.tcdb.org/search/result.php?tc=1.A.1.2 UCSC uc001dzv http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001dzv&org=rat UniGene Hs.169948 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.169948 UniGene Hs.619197 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.619197 UniGene Hs.628223 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.628223 UniProtKB KCNA3_HUMAN http://www.uniprot.org/uniprot/KCNA3_HUMAN UniProtKB-AC P22001 http://www.uniprot.org/uniprot/P22001 charge swissprot:KCNA3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCNA3_HUMAN eggNOG COG1226 http://eggnogapi.embl.de/nog_data/html/tree/COG1226 eggNOG KOG1545 http://eggnogapi.embl.de/nog_data/html/tree/KOG1545 epestfind swissprot:KCNA3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCNA3_HUMAN garnier swissprot:KCNA3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCNA3_HUMAN helixturnhelix swissprot:KCNA3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCNA3_HUMAN hmoment swissprot:KCNA3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCNA3_HUMAN iep swissprot:KCNA3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCNA3_HUMAN inforesidue swissprot:KCNA3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCNA3_HUMAN neXtProt NX_P22001 http://www.nextprot.org/db/entry/NX_P22001 octanol swissprot:KCNA3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCNA3_HUMAN pepcoil swissprot:KCNA3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCNA3_HUMAN pepdigest swissprot:KCNA3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCNA3_HUMAN pepinfo swissprot:KCNA3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCNA3_HUMAN pepnet swissprot:KCNA3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCNA3_HUMAN pepstats swissprot:KCNA3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCNA3_HUMAN pepwheel swissprot:KCNA3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCNA3_HUMAN pepwindow swissprot:KCNA3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCNA3_HUMAN sigcleave swissprot:KCNA3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCNA3_HUMAN ## Database ID URL or Descriptions # AltName HCN2_HUMAN Brain cyclic nucleotide-gated channel 2 # BioGrid 107081 4 # DOMAIN HCN2_HUMAN The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position. # ENZYME REGULATION HCN2_HUMAN Activated by cAMP, and at 10-100 times higher concentrations, also by cGMP. cAMP binding causes a conformation change that leads to the assembly of an active tetramer and channel opening. Channel activity is modulated by intracellular chloride ions and pH; acidic pH shifts the activation to more negative voltages. {ECO 0000269|PubMed 10228147, ECO 0000269|PubMed 22006928}. # Ensembl ENST00000251287 ENSP00000251287; ENSG00000099822 # FUNCTION HCN2_HUMAN Hyperpolarization-activated ion channel exhibiting weak selectivity for potassium over sodium ions. Contributes to the native pacemaker currents in heart (If) and in neurons (Ih). Can also transport ammonium in the distal nephron. Produces a large instantaneous current. Modulated by intracellular chloride ions and pH; acidic pH shifts the activation to more negative voltages (By similarity). {ECO 0000250, ECO 0000269|PubMed 10228147, ECO 0000269|PubMed 10524219}. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0005887 integral component of plasma membrane; IDA:UniProtKB. # GO_component GO:0008076 voltage-gated potassium channel complex; TAS:ProtInc. # GO_function GO:0005222 intracellular cAMP activated cation channel activity; IDA:UniProtKB. # GO_function GO:0005248 voltage-gated sodium channel activity; IMP:UniProtKB. # GO_function GO:0005249 voltage-gated potassium channel activity; IDA:UniProtKB. # GO_function GO:0030552 cAMP binding; IEA:UniProtKB-KW. # GO_process GO:0007267 cell-cell signaling; TAS:ProtInc. # GO_process GO:0035725 sodium ion transmembrane transport; IMP:UniProtKB. # GO_process GO:0042391 regulation of membrane potential; IMP:UniProtKB. # GO_process GO:0071320 cellular response to cAMP; IDA:UniProtKB. # GO_process GO:0071321 cellular response to cGMP; IDA:UniProtKB. # GO_process GO:0071805 potassium ion transmembrane transport; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # GOslim_process GO:0055085 transmembrane transport # Gene3D 2.60.120.10 -; 1. # Genevisible Q9UL51 HS # HGNC HGNC:4846 HCN2 # INTERACTION HCN2_HUMAN Self; NbExp=2; IntAct=EBI-1751885, EBI-1751885; # IntAct Q9UL51 5 # InterPro IPR000595 cNMP-bd_dom # InterPro IPR003938 K_chnl_volt-dep_EAG/ELK/ERG # InterPro IPR005821 Ion_trans_dom # InterPro IPR013621 Ion_trans_N # InterPro IPR014710 RmlC-like_jellyroll # InterPro IPR018488 cNMP-bd_CS # InterPro IPR018490 cNMP-bd-like # KEGG_Brite ko04040 Ion channels # MIM 602781 gene # MISCELLANEOUS HCN2_HUMAN Inhibited by extracellular cesium ions. # Organism HCN2_HUMAN Homo sapiens (Human) # PDB 2MPF NMR; -; A=521-672 # PDB 3U10 X-ray; 2.30 A; A=470-672 # PRINTS PR01463 EAGCHANLFMLY # PROSITE PS00888 CNMP_BINDING_1 # PROSITE PS50042 CNMP_BINDING_3 # PTM HCN2_HUMAN Phosphorylation at Ser-668 by PRKG2 shifts the voltage- dependence to more negative voltages, hence counteracting the stimulatory effect of cGMP on gating. {ECO 0000250}. # Pfam PF00027 cNMP_binding # Pfam PF00520 Ion_trans # Pfam PF08412 Ion_trans_N # Proteomes UP000005640 Chromosome 19 # Reactome R-HSA-1296061 HCN channels # RecName HCN2_HUMAN Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 2 # RefSeq NP_001185 NM_001194.3 # SIMILARITY Belongs to the potassium channel HCN family. {ECO 0000305}. # SIMILARITY Contains 1 cyclic nucleotide-binding domain. {ECO:0000255|PROSITE-ProRule PRU00060}. # SMART SM00100 cNMP # SUBCELLULAR LOCATION HCN2_HUMAN Cell membrane {ECO 0000269|PubMed 10228147, ECO 0000269|PubMed 10524219}; Multi-pass membrane protein {ECO 0000269|PubMed 10228147, ECO 0000269|PubMed 10524219}. # SUBUNIT HCN2_HUMAN The potassium channel is composed of a homo- or heterotetrameric complex of pore-forming subunits. Heterotetramer with HCN1. Forms an obligate 4 4 complex with accessory subunit PEX5L. Interacts with KCNE2 (By similarity). Homotetramer. {ECO 0000250, ECO 0000269|PubMed 22006928}. # SUPFAM SSF51206 SSF51206 # TCDB 1.A.1.5.11 the voltage-gated ion channel (vic) superfamily # TISSUE SPECIFICITY HCN2_HUMAN Highly expressed throughout the brain. Detected at low levels in heart. {ECO 0000269|PubMed 10228147, ECO 0000269|PubMed 9630217}. # UCSC uc002lpe human # eggNOG ENOG410XPSE LUCA # eggNOG KOG0498 Eukaryota BLAST swissprot:HCN2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:HCN2_HUMAN COXPRESdb 610 http://coxpresdb.jp/data/gene/610.shtml CleanEx HS_HCN2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_HCN2 DIP DIP-52285N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-52285N DOI 10.1016/S0092-8674(00)81434-8 http://dx.doi.org/10.1016/S0092-8674(00)81434-8 DOI 10.1016/S0167-4781(99)00092-5 http://dx.doi.org/10.1016/S0167-4781(99)00092-5 DOI 10.1038/nature02399 http://dx.doi.org/10.1038/nature02399 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1074/jbc.M111.297606 http://dx.doi.org/10.1074/jbc.M111.297606 DOI 10.1093/emboj/18.9.2323 http://dx.doi.org/10.1093/emboj/18.9.2323 EMBL AC004449 http://www.ebi.ac.uk/ena/data/view/AC004449 EMBL AC005559 http://www.ebi.ac.uk/ena/data/view/AC005559 EMBL AF064877 http://www.ebi.ac.uk/ena/data/view/AF064877 EMBL AF065164 http://www.ebi.ac.uk/ena/data/view/AF065164 EMBL AJ012582 http://www.ebi.ac.uk/ena/data/view/AJ012582 EMBL AJ133727 http://www.ebi.ac.uk/ena/data/view/AJ133727 EMBL AJ133728 http://www.ebi.ac.uk/ena/data/view/AJ133728 EMBL AJ133729 http://www.ebi.ac.uk/ena/data/view/AJ133729 EMBL AJ133730 http://www.ebi.ac.uk/ena/data/view/AJ133730 EMBL AJ133731 http://www.ebi.ac.uk/ena/data/view/AJ133731 EMBL AJ133732 http://www.ebi.ac.uk/ena/data/view/AJ133732 EMBL AJ133733 http://www.ebi.ac.uk/ena/data/view/AJ133733 EMBL AJ133734 http://www.ebi.ac.uk/ena/data/view/AJ133734 Ensembl ENST00000251287 http://www.ensembl.org/id/ENST00000251287 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0008076 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008076 GO_function GO:0005222 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005222 GO_function GO:0005248 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005248 GO_function GO:0005249 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005249 GO_function GO:0030552 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030552 GO_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GO_process GO:0035725 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035725 GO_process GO:0042391 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042391 GO_process GO:0071320 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071320 GO_process GO:0071321 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071321 GO_process GO:0071805 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071805 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 2.60.120.10 http://www.cathdb.info/version/latest/superfamily/2.60.120.10 GeneCards HCN2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=HCN2 GeneID 610 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=610 GeneTree ENSGT00760000118772 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118772 HGNC HGNC:4846 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:4846 HOGENOM HOG000230717 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000230717&db=HOGENOM6 HOVERGEN HBG039489 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG039489&db=HOVERGEN InParanoid Q9UL51 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9UL51 IntAct Q9UL51 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9UL51* InterPro IPR000595 http://www.ebi.ac.uk/interpro/entry/IPR000595 InterPro IPR003938 http://www.ebi.ac.uk/interpro/entry/IPR003938 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR013621 http://www.ebi.ac.uk/interpro/entry/IPR013621 InterPro IPR014710 http://www.ebi.ac.uk/interpro/entry/IPR014710 InterPro IPR018488 http://www.ebi.ac.uk/interpro/entry/IPR018488 InterPro IPR018490 http://www.ebi.ac.uk/interpro/entry/IPR018490 Jabion 610 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=610 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:610 http://www.genome.jp/dbget-bin/www_bget?hsa:610 KEGG_Orthology KO:K04955 http://www.genome.jp/dbget-bin/www_bget?KO:K04955 MIM 602781 http://www.ncbi.nlm.nih.gov/omim/602781 OMA MRICNIS http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=MRICNIS OrthoDB EOG091G0JQU http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0JQU PDB 2MPF http://www.ebi.ac.uk/pdbe-srv/view/entry/2MPF PDB 3U10 http://www.ebi.ac.uk/pdbe-srv/view/entry/3U10 PDBsum 2MPF http://www.ebi.ac.uk/pdbsum/2MPF PDBsum 3U10 http://www.ebi.ac.uk/pdbsum/3U10 PRINTS PR01463 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01463 PROSITE PS00888 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00888 PROSITE PS50042 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50042 PSORT swissprot:HCN2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:HCN2_HUMAN PSORT-B swissprot:HCN2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:HCN2_HUMAN PSORT2 swissprot:HCN2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:HCN2_HUMAN Pfam PF00027 http://pfam.xfam.org/family/PF00027 Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF08412 http://pfam.xfam.org/family/PF08412 PharmGKB PA78 http://www.pharmgkb.org/do/serve?objId=PA78&objCls=Gene Phobius swissprot:HCN2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:HCN2_HUMAN PhylomeDB Q9UL51 http://phylomedb.org/?seqid=Q9UL51 ProteinModelPortal Q9UL51 http://www.proteinmodelportal.org/query/uniprot/Q9UL51 PubMed 10228147 http://www.ncbi.nlm.nih.gov/pubmed/10228147 PubMed 10524219 http://www.ncbi.nlm.nih.gov/pubmed/10524219 PubMed 15057824 http://www.ncbi.nlm.nih.gov/pubmed/15057824 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 22006928 http://www.ncbi.nlm.nih.gov/pubmed/22006928 PubMed 9630217 http://www.ncbi.nlm.nih.gov/pubmed/9630217 Reactome R-HSA-1296061 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1296061 RefSeq NP_001185 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001185 SMART SM00100 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00100 SMR Q9UL51 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9UL51 STRING 9606.ENSP00000251287 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000251287&targetmode=cogs SUPFAM SSF51206 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF51206 TCDB 1.A.1.5.11 http://www.tcdb.org/search/result.php?tc=1.A.1.5.11 UCSC uc002lpe http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002lpe&org=rat UniGene Hs.124161 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.124161 UniProtKB HCN2_HUMAN http://www.uniprot.org/uniprot/HCN2_HUMAN UniProtKB-AC Q9UL51 http://www.uniprot.org/uniprot/Q9UL51 charge swissprot:HCN2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:HCN2_HUMAN eggNOG ENOG410XPSE http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XPSE eggNOG KOG0498 http://eggnogapi.embl.de/nog_data/html/tree/KOG0498 epestfind swissprot:HCN2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:HCN2_HUMAN garnier swissprot:HCN2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:HCN2_HUMAN helixturnhelix swissprot:HCN2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:HCN2_HUMAN hmoment swissprot:HCN2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:HCN2_HUMAN iep swissprot:HCN2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:HCN2_HUMAN inforesidue swissprot:HCN2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:HCN2_HUMAN neXtProt NX_Q9UL51 http://www.nextprot.org/db/entry/NX_Q9UL51 octanol swissprot:HCN2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:HCN2_HUMAN pepcoil swissprot:HCN2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:HCN2_HUMAN pepdigest swissprot:HCN2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:HCN2_HUMAN pepinfo swissprot:HCN2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:HCN2_HUMAN pepnet swissprot:HCN2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:HCN2_HUMAN pepstats swissprot:HCN2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:HCN2_HUMAN pepwheel swissprot:HCN2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:HCN2_HUMAN pepwindow swissprot:HCN2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:HCN2_HUMAN sigcleave swissprot:HCN2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:HCN2_HUMAN ## Database ID URL or Descriptions # AltName ATS8_HUMAN METH-2 # AltName ATS8_HUMAN METH-8 # COFACTOR ATS8_HUMAN Name=Zn(2+); Xref=ChEBI CHEBI 29105; Evidence={ECO 0000250}; Note=Binds 1 zinc ion per subunit. {ECO 0000250}; # DOMAIN ATS8_HUMAN The spacer domain and the TSP type-1 domains are important for a tight interaction with the extracellular matrix. # Ensembl ENST00000257359 ENSP00000257359; ENSG00000134917 # FUNCTION ATS8_HUMAN Has anti-angiogenic properties. # GO_component GO:0005578 proteinaceous extracellular matrix; IEA:UniProtKB-SubCell. # GO_function GO:0004222 metalloendopeptidase activity; IEA:InterPro. # GO_function GO:0005178 integrin binding; TAS:ProtInc. # GO_function GO:0008201 heparin binding; IEA:UniProtKB-KW. # GO_function GO:0008237 metallopeptidase activity; TAS:ProtInc. # GO_function GO:0008270 zinc ion binding; IEA:InterPro. # GO_function GO:0009673 low-affinity phosphate transmembrane transporter activity; TAS:ProtInc. # GO_process GO:0008285 negative regulation of cell proliferation; TAS:ProtInc. # GOslim_component GO:0005578 proteinaceous extracellular matrix # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0008233 peptidase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0008150 biological_process # Gene3D 3.40.390.10 -; 1. # Genevisible Q9UP79 HS # HGNC HGNC:224 ADAMTS8 # InterPro IPR000884 TSP1_rpt # InterPro IPR001590 Peptidase_M12B # InterPro IPR002870 Peptidase_M12B_N # InterPro IPR006586 ADAM_Cys-rich # InterPro IPR010294 ADAM_spacer1 # InterPro IPR013273 Peptidase_M12B_ADAM-TS # InterPro IPR013277 Pept_M12B_ADAM-TS8 # InterPro IPR024079 MetalloPept_cat_dom # KEGG_Brite ko01000 Enzymes # KEGG_Brite ko01002 Peptidases # MIM 605175 gene # Organism ATS8_HUMAN Homo sapiens (Human) # PRINTS PR01857 ADAMTSFAMILY # PRINTS PR01861 ADAMTS8 # PROSITE PS00142 ZINC_PROTEASE # PROSITE PS50092 TSP1; 2 # PROSITE PS50215 ADAM_MEPRO # PTM ATS8_HUMAN Glycosylated. Can be O-fucosylated by POFUT2 on a serine or a threonine residue found within the consensus sequence C1-X(2)- (S/T)-C2-G of the TSP type-1 repeat domains where C1 and C2 are the first and second cysteine residue of the repeat, respectively. Fucosylated repeats can then be further glycosylated by the addition of a beta-1,3-glucose residue by the glucosyltransferase, B3GALTL. Fucosylation mediates the efficient secretion of ADAMTS family members. Also can be C-glycosylated with one or two mannose molecules on tryptophan residues within the consensus sequence W- X-X-W of the TPRs, and N-glycosylated. These other glycosylations can also facilitate secretion (By similarity). {ECO 0000250}. # PTM ATS8_HUMAN The precursor is cleaved by a furin endopeptidase. {ECO 0000250}. # Pfam PF00090 TSP_1; 2 # Pfam PF01421 Reprolysin # Pfam PF01562 Pep_M12B_propep # Pfam PF05986 ADAM_spacer1 # Proteomes UP000005640 Chromosome 11 # Reactome R-HSA-1474228 Degradation of the extracellular matrix # Reactome R-HSA-5083635 Defective B3GALTL causes Peters-plus syndrome (PpS) # Reactome R-HSA-5173214 O-glycosylation of TSR domain-containing proteins # RecName ATS8_HUMAN A disintegrin and metalloproteinase with thrombospondin motifs 8 # RefSeq NP_008968 NM_007037.5 # SIMILARITY Contains 1 disintegrin domain. {ECO 0000305}. # SIMILARITY Contains 1 peptidase M12B domain. {ECO:0000255|PROSITE-ProRule PRU00276}. # SIMILARITY Contains 2 TSP type-1 domains. {ECO:0000255|PROSITE- ProRule PRU00210}. # SMART SM00209 TSP1; 2 # SMART SM00608 ACR # SUBCELLULAR LOCATION ATS8_HUMAN Secreted, extracellular space, extracellular matrix {ECO 0000250}. # SUPFAM SSF82895 SSF82895; 2 # TISSUE SPECIFICITY ATS8_HUMAN Highly expressed in adult and fetal lung, lower expression in brain, placenta, heart, stomach and fetal brain and kidney. # UCSC uc001qgg human # eggNOG ENOG410XPKZ LUCA # eggNOG KOG3538 Eukaryota BLAST swissprot:ATS8_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ATS8_HUMAN BioCyc ZFISH:ENSG00000134917-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000134917-MONOMER COXPRESdb 11095 http://coxpresdb.jp/data/gene/11095.shtml CleanEx HS_ADAMTS8 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ADAMTS8 DOI 10.1006/geno.1999.6014 http://dx.doi.org/10.1006/geno.1999.6014 DOI 10.1038/nature04632 http://dx.doi.org/10.1038/nature04632 DOI 10.1074/jbc.274.33.23349 http://dx.doi.org/10.1074/jbc.274.33.23349 EC_number EC:3.4.24.- http://www.genome.jp/dbget-bin/www_bget?EC:3.4.24.- EMBL AF060153 http://www.ebi.ac.uk/ena/data/view/AF060153 EMBL AF175283 http://www.ebi.ac.uk/ena/data/view/AF175283 EMBL AP002986 http://www.ebi.ac.uk/ena/data/view/AP002986 ENZYME 3.4.24.- http://enzyme.expasy.org/EC/3.4.24.- Ensembl ENST00000257359 http://www.ensembl.org/id/ENST00000257359 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005578 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005578 GO_function GO:0004222 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004222 GO_function GO:0005178 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005178 GO_function GO:0008201 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008201 GO_function GO:0008237 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008237 GO_function GO:0008270 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008270 GO_function GO:0009673 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009673 GO_process GO:0008285 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008285 GOslim_component GO:0005578 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005578 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0008233 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008233 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 Gene3D 3.40.390.10 http://www.cathdb.info/version/latest/superfamily/3.40.390.10 GeneCards ADAMTS8 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ADAMTS8 GeneID 11095 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=11095 GeneTree ENSGT00760000118880 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118880 H-InvDB HIX0026131 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0026131 HGNC HGNC:224 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:224 HOGENOM HOG000004799 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000004799&db=HOGENOM6 HOVERGEN HBG004313 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG004313&db=HOVERGEN HPA HPA066349 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA066349 InParanoid Q9UP79 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9UP79 IntEnz 3.4.24 http://www.ebi.ac.uk/intenz/query?cmd=Search&q=3.4.24 InterPro IPR000884 http://www.ebi.ac.uk/interpro/entry/IPR000884 InterPro IPR001590 http://www.ebi.ac.uk/interpro/entry/IPR001590 InterPro IPR002870 http://www.ebi.ac.uk/interpro/entry/IPR002870 InterPro IPR006586 http://www.ebi.ac.uk/interpro/entry/IPR006586 InterPro IPR010294 http://www.ebi.ac.uk/interpro/entry/IPR010294 InterPro IPR013273 http://www.ebi.ac.uk/interpro/entry/IPR013273 InterPro IPR013277 http://www.ebi.ac.uk/interpro/entry/IPR013277 InterPro IPR024079 http://www.ebi.ac.uk/interpro/entry/IPR024079 Jabion 11095 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=11095 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Brite ko01002 http://www.genome.jp/dbget-bin/www_bget?ko01002 KEGG_Gene hsa:11095 http://www.genome.jp/dbget-bin/www_bget?hsa:11095 KEGG_Orthology KO:K08623 http://www.genome.jp/dbget-bin/www_bget?KO:K08623 MIM 605175 http://www.ncbi.nlm.nih.gov/omim/605175 OMA IQPQGAG http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=IQPQGAG OrthoDB EOG091G00AX http://cegg.unige.ch/orthodb/results?searchtext=EOG091G00AX PRINTS PR01857 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01857 PRINTS PR01861 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01861 PROSITE PS00142 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00142 PROSITE PS50092 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50092 PROSITE PS50215 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50215 PSORT swissprot:ATS8_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ATS8_HUMAN PSORT-B swissprot:ATS8_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ATS8_HUMAN PSORT2 swissprot:ATS8_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ATS8_HUMAN Pfam PF00090 http://pfam.xfam.org/family/PF00090 Pfam PF01421 http://pfam.xfam.org/family/PF01421 Pfam PF01562 http://pfam.xfam.org/family/PF01562 Pfam PF05986 http://pfam.xfam.org/family/PF05986 Phobius swissprot:ATS8_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ATS8_HUMAN PhylomeDB Q9UP79 http://phylomedb.org/?seqid=Q9UP79 ProteinModelPortal Q9UP79 http://www.proteinmodelportal.org/query/uniprot/Q9UP79 PubMed 10438512 http://www.ncbi.nlm.nih.gov/pubmed/10438512 PubMed 10610729 http://www.ncbi.nlm.nih.gov/pubmed/10610729 PubMed 16554811 http://www.ncbi.nlm.nih.gov/pubmed/16554811 Reactome R-HSA-1474228 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1474228 Reactome R-HSA-5083635 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5083635 Reactome R-HSA-5173214 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5173214 RefSeq NP_008968 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_008968 SMART SM00209 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00209 SMART SM00608 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00608 SMR Q9UP79 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9UP79 STRING 9606.ENSP00000257359 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000257359&targetmode=cogs SUPFAM SSF82895 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF82895 UCSC uc001qgg http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001qgg&org=rat UniGene Hs.271605 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.271605 UniProtKB ATS8_HUMAN http://www.uniprot.org/uniprot/ATS8_HUMAN UniProtKB-AC Q9UP79 http://www.uniprot.org/uniprot/Q9UP79 charge swissprot:ATS8_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ATS8_HUMAN eggNOG ENOG410XPKZ http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XPKZ eggNOG KOG3538 http://eggnogapi.embl.de/nog_data/html/tree/KOG3538 epestfind swissprot:ATS8_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ATS8_HUMAN garnier swissprot:ATS8_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ATS8_HUMAN helixturnhelix swissprot:ATS8_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ATS8_HUMAN hmoment swissprot:ATS8_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ATS8_HUMAN iep swissprot:ATS8_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ATS8_HUMAN inforesidue swissprot:ATS8_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ATS8_HUMAN neXtProt NX_Q9UP79 http://www.nextprot.org/db/entry/NX_Q9UP79 octanol swissprot:ATS8_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ATS8_HUMAN pepcoil swissprot:ATS8_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ATS8_HUMAN pepdigest swissprot:ATS8_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ATS8_HUMAN pepinfo swissprot:ATS8_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ATS8_HUMAN pepnet swissprot:ATS8_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ATS8_HUMAN pepstats swissprot:ATS8_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ATS8_HUMAN pepwheel swissprot:ATS8_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ATS8_HUMAN pepwindow swissprot:ATS8_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ATS8_HUMAN sigcleave swissprot:ATS8_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ATS8_HUMAN ## Database ID URL or Descriptions # AltName VDAC1_HUMAN Outer mitochondrial membrane protein porin 1 # AltName VDAC1_HUMAN Plasmalemmal porin # AltName VDAC1_HUMAN Porin 31HL # AltName VDAC1_HUMAN Porin 31HM # BioGrid 113259 135 # ChiTaRS VDAC1 human # DOMAIN VDAC1_HUMAN Consists mainly of a membrane-spanning beta-barrel formed by 19 beta-strands. The helical N-terminus folds back into the pore opening and plays a role in voltage-gated channel activity. # DrugBank DB01375 Dihydroxyaluminium # ENZYME REGULATION Inhibited by nitric oxide. {ECO:0000269|PubMed 21156174}. # Ensembl ENST00000265333 ENSP00000265333; ENSG00000213585 # Ensembl ENST00000395044 ENSP00000378484; ENSG00000213585 # Ensembl ENST00000395047 ENSP00000378487; ENSG00000213585 # ExpressionAtlas P21796 baseline and differential # FUNCTION VDAC1_HUMAN Forms a channel through the mitochondrial outer membrane and also the plasma membrane. The channel at the outer mitochondrial membrane allows diffusion of small hydrophilic molecules; in the plasma membrane it is involved in cell volume regulation and apoptosis. It adopts an open conformation at low or zero membrane potential and a closed conformation at potentials above 30-40 mV. The open state has a weak anion selectivity whereas the closed state is cation-selective (PubMed 11845315, PubMed 18755977, PubMed 20230784, PubMed 8420959). May participate in the formation of the permeability transition pore complex (PTPC) responsible for the release of mitochondrial products that triggers apoptosis (PubMed 15033708, PubMed 25296756). {ECO 0000269|PubMed 11845315, ECO 0000269|PubMed 15033708, ECO 0000269|PubMed 18755977, ECO 0000269|PubMed 20230784, ECO 0000269|PubMed 25296756, ECO 0000269|PubMed 8420959}. # GO_component GO:0005634 nucleus; IDA:UniProtKB. # GO_component GO:0005739 mitochondrion; IDA:UniProtKB. # GO_component GO:0005741 mitochondrial outer membrane; IDA:UniProtKB. # GO_component GO:0005743 mitochondrial inner membrane; IEA:Ensembl. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0008021 synaptic vesicle; IEA:Ensembl. # GO_component GO:0016020 membrane; ISS:UniProtKB. # GO_component GO:0042645 mitochondrial nucleoid; IDA:BHF-UCL. # GO_component GO:0043209 myelin sheath; IEA:Ensembl. # GO_component GO:0045121 membrane raft; IEA:UniProtKB-SubCell. # GO_component GO:0046930 pore complex; TAS:HGNC. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0008308 voltage-gated anion channel activity; IDA:UniProtKB. # GO_function GO:0015288 porin activity; IEA:UniProtKB-KW. # GO_function GO:0019901 protein kinase binding; IPI:ParkinsonsUK-UCL. # GO_function GO:0044325 ion channel binding; IPI:UniProtKB. # GO_process GO:0001662 behavioral fear response; IEA:Ensembl. # GO_process GO:0006820 anion transport; IDA:UniProtKB. # GO_process GO:0006851 mitochondrial calcium ion transport; IEA:Ensembl. # GO_process GO:0006915 apoptotic process; IDA:UniProtKB. # GO_process GO:0007270 neuron-neuron synaptic transmission; IEA:Ensembl. # GO_process GO:0007612 learning; IEA:Ensembl. # GO_process GO:0016032 viral process; IEA:UniProtKB-KW. # GO_process GO:0016236 macroautophagy; TAS:Reactome. # GO_process GO:0030855 epithelial cell differentiation; IEP:UniProtKB. # GO_process GO:1903146 regulation of mitophagy; NAS:ParkinsonsUK-UCL. # GO_process GO:2000378 negative regulation of reactive oxygen species metabolic process; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005739 mitochondrion # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0031410 cytoplasmic vesicle # GOslim_component GO:0043226 organelle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0019899 enzyme binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0006914 autophagy # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # GOslim_process GO:0008219 cell death # GOslim_process GO:0030154 cell differentiation # GOslim_process GO:0044403 symbiosis, encompassing mutualism through parasitism # GOslim_process GO:0050877 neurological system process # Gene3D 2.40.160.10 -; 1. # Genevisible P21796 HS # HGNC HGNC:12669 VDAC1 # INTERACTION VDAC1_HUMAN Q7L3V2 BOP; NbExp=2; IntAct=EBI-354158, EBI-10697720; P19367 HK1; NbExp=2; IntAct=EBI-354158, EBI-713162; Q14643 ITPR1; NbExp=3; IntAct=EBI-354158, EBI-465548; # IntAct P21796 45 # InterPro IPR001925 Porin_Euk # InterPro IPR023614 Porin_dom # InterPro IPR027246 Porin_Euk/Tom40 # InterPro IPR030270 VDAC1 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02000 Transporters # KEGG_Pathway ko04020 Calcium signaling pathway # KEGG_Pathway ko05012 Parkinson's disease # KEGG_Pathway ko05016 Huntington's disease # KEGG_Pathway ko05164 Influenza A # KEGG_Pathway ko05166 HTLV-I infection # MIM 604492 gene+phenotype # Organism VDAC1_HUMAN Homo sapiens (Human) # PANTHER PTHR11743:SF13 PTHR11743:SF13 # PDB 2JK4 X-ray; 4.10 A; A=2-283 # PDB 2K4T NMR; -; A=1-283 # PDB 5JDP NMR; -; A=2-283 # PIR A44422 MMHUP3 # PRINTS PR00185 EUKARYTPORIN # PROSITE PS00558 EUKARYOTIC_PORIN # PTM VDAC1_HUMAN Phosphorylation at Ser-193 by NEK1 promotes the open conformational state preventing excessive mitochondrial membrane permeability and subsequent apoptotic cell death after injury. Phosphorylation by the AKT-GSK3B axis stabilizes the protein probably by preventing ubiquitin-mediated proteasomal degradation. {ECO 0000269|PubMed 20230784}. # PTM VDAC1_HUMAN Ubiquitinated by PARK2 during mitophagy, leading to its degradation and enhancement of mitophagy. Deubiquitinated by USP30. {ECO 0000269|PubMed 25621951}. # Pfam PF01459 Porin_3 # Proteomes UP000005640 Chromosome 5 # Reactome R-HSA-1268020 Mitochondrial protein import # Reactome R-HSA-5205685 Pink/Parkin Mediated Mitophagy # Reactome R-HSA-5689880 Ub-specific processing proteases # RecName VDAC1_HUMAN Voltage-dependent anion-selective channel protein 1 # RefSeq NP_003365 NM_003374.2 # RefSeq XP_005272132 XM_005272075.3 # RefSeq XP_016865310 XM_017009821.1 # RefSeq XP_016865311 XM_017009822.1 # RefSeq XP_016865312 XM_017009823.1 # SIMILARITY Belongs to the eukaryotic mitochondrial porin family. {ECO 0000305}. # SUBCELLULAR LOCATION VDAC1_HUMAN Mitochondrion outer membrane {ECO 0000269|PubMed 7539795}; Multi-pass membrane protein {ECO 0000269|PubMed 18755977, ECO 0000269|PubMed 18832158}. Cell membrane {ECO 0000269|PubMed 25168729, ECO 0000269|PubMed 25296756}; Multi-pass membrane protein {ECO 0000269|PubMed 18755977, ECO 0000269|PubMed 18832158}. Membrane raft {ECO 0000269|PubMed 25168729}; Multi-pass membrane protein {ECO 0000269|PubMed 18755977, ECO 0000269|PubMed 18832158}. # SUBUNIT (Microbial infection) Interacts with influenza A virus PB1-F2 protein. {ECO:0000269|PubMed 16201016}. # SUBUNIT VDAC1_HUMAN Interacts with hexokinases including HK1 (PubMed 8420959, PubMed 22304920). The HK1-VDAC1 complex interacts with ATF2 (PubMed 22304920). Interacts with BCL2L1 (PubMed 18755977, PubMed 25296756). Interacts with BAK1 (PubMed 25296756). Interacts with BOP/C22orf29 (via BH3 domain) (PubMed 23055042). Interacts with beta amyloid and APP; induces VDAC1 dephosphorylation (PubMed 25168729). {ECO 0000269|PubMed 18755977, ECO 0000269|PubMed 22304920, ECO 0000269|PubMed 23055042, ECO 0000269|PubMed 25168729, ECO 0000269|PubMed 25296756, ECO 0000269|PubMed 8420959}. # TISSUE SPECIFICITY VDAC1_HUMAN Heart, liver and skeletal muscle. # UCSC uc003kyp human # WEB RESOURCE VDAC1_HUMAN Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http //atlasgeneticsoncology.org/Genes/VDAC1ID50902ch5q31.html"; # eggNOG ENOG410ZBK1 LUCA # eggNOG KOG3126 Eukaryota BLAST swissprot:VDAC1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:VDAC1_HUMAN BioCyc ZFISH:ENSG00000073905-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000073905-MONOMER COXPRESdb 7416 http://coxpresdb.jp/data/gene/7416.shtml CleanEx HS_VDAC1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_VDAC1 DIP DIP-32862N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-32862N DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1006/bbrc.2000.2487 http://dx.doi.org/10.1006/bbrc.2000.2487 DOI 10.1007/s003359901158 http://dx.doi.org/10.1007/s003359901158 DOI 10.1007/s004240100656 http://dx.doi.org/10.1007/s004240100656 DOI 10.1007/s13238-012-2069-7 http://dx.doi.org/10.1007/s13238-012-2069-7 DOI 10.1016/j.bbrc.2010.03.077 http://dx.doi.org/10.1016/j.bbrc.2010.03.077 DOI 10.1016/j.cell.2006.09.026 http://dx.doi.org/10.1016/j.cell.2006.09.026 DOI 10.1016/j.cell.2012.01.016 http://dx.doi.org/10.1016/j.cell.2012.01.016 DOI 10.1016/j.febslet.2010.12.008 http://dx.doi.org/10.1016/j.febslet.2010.12.008 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1016/j.molcel.2008.07.007 http://dx.doi.org/10.1016/j.molcel.2008.07.007 DOI 10.1016/j.neuroscience.2014.07.079 http://dx.doi.org/10.1016/j.neuroscience.2014.07.079 DOI 10.1021/ac9004309 http://dx.doi.org/10.1021/ac9004309 DOI 10.1021/pr0704130 http://dx.doi.org/10.1021/pr0704130 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature02919 http://dx.doi.org/10.1038/nature02919 DOI 10.1038/ncb3097 http://dx.doi.org/10.1038/ncb3097 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1073/pnas.0808115105 http://dx.doi.org/10.1073/pnas.0808115105 DOI 10.1073/pnas.1210303109 http://dx.doi.org/10.1073/pnas.1210303109 DOI 10.1073/pnas.90.12.5446 http://dx.doi.org/10.1073/pnas.90.12.5446 DOI 10.1074/jbc.270.23.13998 http://dx.doi.org/10.1074/jbc.270.23.13998 DOI 10.1074/jbc.M114.567792 http://dx.doi.org/10.1074/jbc.M114.567792 DOI 10.1074/mcp.M111.015131 http://dx.doi.org/10.1074/mcp.M111.015131 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1161302 http://dx.doi.org/10.1126/science.1161302 DOI 10.1126/science.1175371 http://dx.doi.org/10.1126/science.1175371 DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 DOI 10.1126/scisignal.2001570 http://dx.doi.org/10.1126/scisignal.2001570 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DOI 10.1196/annals.1299.022 http://dx.doi.org/10.1196/annals.1299.022 DOI 10.1371/journal.ppat.0010004 http://dx.doi.org/10.1371/journal.ppat.0010004 DOI 10.1515/BC.1999.189 http://dx.doi.org/10.1515/BC.1999.189 DrugBank DB01375 http://www.drugbank.ca/drugs/DB01375 EMBL AC005200 http://www.ebi.ac.uk/ena/data/view/AC005200 EMBL AC008608 http://www.ebi.ac.uk/ena/data/view/AC008608 EMBL AF151093 http://www.ebi.ac.uk/ena/data/view/AF151093 EMBL AF151094 http://www.ebi.ac.uk/ena/data/view/AF151094 EMBL AF151095 http://www.ebi.ac.uk/ena/data/view/AF151095 EMBL AF151096 http://www.ebi.ac.uk/ena/data/view/AF151096 EMBL AF151097 http://www.ebi.ac.uk/ena/data/view/AF151097 EMBL AJ250032 http://www.ebi.ac.uk/ena/data/view/AJ250032 EMBL AJ250033 http://www.ebi.ac.uk/ena/data/view/AJ250033 EMBL AJ250034 http://www.ebi.ac.uk/ena/data/view/AJ250034 EMBL AJ250035 http://www.ebi.ac.uk/ena/data/view/AJ250035 EMBL AJ250036 http://www.ebi.ac.uk/ena/data/view/AJ250036 EMBL AJ250037 http://www.ebi.ac.uk/ena/data/view/AJ250037 EMBL AJ250038 http://www.ebi.ac.uk/ena/data/view/AJ250038 EMBL AJ250039 http://www.ebi.ac.uk/ena/data/view/AJ250039 EMBL AK122953 http://www.ebi.ac.uk/ena/data/view/AK122953 EMBL BC008482 http://www.ebi.ac.uk/ena/data/view/BC008482 EMBL BC071168 http://www.ebi.ac.uk/ena/data/view/BC071168 EMBL BC090042 http://www.ebi.ac.uk/ena/data/view/BC090042 EMBL CH471062 http://www.ebi.ac.uk/ena/data/view/CH471062 EMBL CH471062 http://www.ebi.ac.uk/ena/data/view/CH471062 EMBL CH471062 http://www.ebi.ac.uk/ena/data/view/CH471062 EMBL CH471062 http://www.ebi.ac.uk/ena/data/view/CH471062 EMBL CH471062 http://www.ebi.ac.uk/ena/data/view/CH471062 EMBL L06132 http://www.ebi.ac.uk/ena/data/view/L06132 Ensembl ENST00000265333 http://www.ensembl.org/id/ENST00000265333 Ensembl ENST00000395044 http://www.ensembl.org/id/ENST00000395044 Ensembl ENST00000395047 http://www.ensembl.org/id/ENST00000395047 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005741 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005741 GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0008021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008021 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0042645 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042645 GO_component GO:0043209 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043209 GO_component GO:0045121 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045121 GO_component GO:0046930 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046930 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0008308 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008308 GO_function GO:0015288 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015288 GO_function GO:0019901 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019901 GO_function GO:0044325 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044325 GO_process GO:0001662 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001662 GO_process GO:0006820 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006820 GO_process GO:0006851 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006851 GO_process GO:0006915 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006915 GO_process GO:0007270 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007270 GO_process GO:0007612 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007612 GO_process GO:0016032 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016032 GO_process GO:0016236 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016236 GO_process GO:0030855 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030855 GO_process GO:1903146 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903146 GO_process GO:2000378 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000378 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0031410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006914 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006914 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0008219 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008219 GOslim_process GO:0030154 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030154 GOslim_process GO:0044403 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044403 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 Gene3D 2.40.160.10 http://www.cathdb.info/version/latest/superfamily/2.40.160.10 GeneCards VDAC1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=VDAC1 GeneID 7416 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=7416 GeneTree ENSGT00390000011336 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000011336 H-InvDB HIX0056260 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0056260 HGNC HGNC:12669 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:12669 HOGENOM HOG000188277 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000188277&db=HOGENOM6 HOVERGEN HBG054036 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG054036&db=HOVERGEN HPA CAB005885 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB005885 HPA HPA030780 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA030780 InParanoid P21796 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P21796 IntAct P21796 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P21796* InterPro IPR001925 http://www.ebi.ac.uk/interpro/entry/IPR001925 InterPro IPR023614 http://www.ebi.ac.uk/interpro/entry/IPR023614 InterPro IPR027246 http://www.ebi.ac.uk/interpro/entry/IPR027246 InterPro IPR030270 http://www.ebi.ac.uk/interpro/entry/IPR030270 Jabion 7416 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=7416 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Gene hsa:7416 http://www.genome.jp/dbget-bin/www_bget?hsa:7416 KEGG_Orthology KO:K05862 http://www.genome.jp/dbget-bin/www_bget?KO:K05862 KEGG_Pathway ko04020 http://www.genome.jp/kegg-bin/show_pathway?ko04020 KEGG_Pathway ko05012 http://www.genome.jp/kegg-bin/show_pathway?ko05012 KEGG_Pathway ko05016 http://www.genome.jp/kegg-bin/show_pathway?ko05016 KEGG_Pathway ko05164 http://www.genome.jp/kegg-bin/show_pathway?ko05164 KEGG_Pathway ko05166 http://www.genome.jp/kegg-bin/show_pathway?ko05166 MIM 604492 http://www.ncbi.nlm.nih.gov/omim/604492 MINT MINT-5002499 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-5002499 OMA YGLMFTE http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=YGLMFTE OrthoDB EOG091G0F0O http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0F0O PANTHER PTHR11743:SF13 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11743:SF13 PDB 2JK4 http://www.ebi.ac.uk/pdbe-srv/view/entry/2JK4 PDB 2K4T http://www.ebi.ac.uk/pdbe-srv/view/entry/2K4T PDB 5JDP http://www.ebi.ac.uk/pdbe-srv/view/entry/5JDP PDBsum 2JK4 http://www.ebi.ac.uk/pdbsum/2JK4 PDBsum 2K4T http://www.ebi.ac.uk/pdbsum/2K4T PDBsum 5JDP http://www.ebi.ac.uk/pdbsum/5JDP PRINTS PR00185 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00185 PROSITE PS00558 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00558 PSORT swissprot:VDAC1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:VDAC1_HUMAN PSORT-B swissprot:VDAC1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:VDAC1_HUMAN PSORT2 swissprot:VDAC1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:VDAC1_HUMAN Pfam PF01459 http://pfam.xfam.org/family/PF01459 PharmGKB PA37292 http://www.pharmgkb.org/do/serve?objId=PA37292&objCls=Gene Phobius swissprot:VDAC1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:VDAC1_HUMAN PhylomeDB P21796 http://phylomedb.org/?seqid=P21796 ProteinModelPortal P21796 http://www.proteinmodelportal.org/query/uniprot/P21796 PubMed 10501981 http://www.ncbi.nlm.nih.gov/pubmed/10501981 PubMed 10661876 http://www.ncbi.nlm.nih.gov/pubmed/10661876 PubMed 10772903 http://www.ncbi.nlm.nih.gov/pubmed/10772903 PubMed 11845315 http://www.ncbi.nlm.nih.gov/pubmed/11845315 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15033708 http://www.ncbi.nlm.nih.gov/pubmed/15033708 PubMed 15372022 http://www.ncbi.nlm.nih.gov/pubmed/15372022 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16201016 http://www.ncbi.nlm.nih.gov/pubmed/16201016 PubMed 1657034 http://www.ncbi.nlm.nih.gov/pubmed/1657034 PubMed 17081983 http://www.ncbi.nlm.nih.gov/pubmed/17081983 PubMed 18088087 http://www.ncbi.nlm.nih.gov/pubmed/18088087 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 18691976 http://www.ncbi.nlm.nih.gov/pubmed/18691976 PubMed 18755977 http://www.ncbi.nlm.nih.gov/pubmed/18755977 PubMed 18832158 http://www.ncbi.nlm.nih.gov/pubmed/18832158 PubMed 19413330 http://www.ncbi.nlm.nih.gov/pubmed/19413330 PubMed 19608861 http://www.ncbi.nlm.nih.gov/pubmed/19608861 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 20230784 http://www.ncbi.nlm.nih.gov/pubmed/20230784 PubMed 21156174 http://www.ncbi.nlm.nih.gov/pubmed/21156174 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 21406692 http://www.ncbi.nlm.nih.gov/pubmed/21406692 PubMed 22223895 http://www.ncbi.nlm.nih.gov/pubmed/22223895 PubMed 22304920 http://www.ncbi.nlm.nih.gov/pubmed/22304920 PubMed 22814378 http://www.ncbi.nlm.nih.gov/pubmed/22814378 PubMed 23055042 http://www.ncbi.nlm.nih.gov/pubmed/23055042 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 25168729 http://www.ncbi.nlm.nih.gov/pubmed/25168729 PubMed 25296756 http://www.ncbi.nlm.nih.gov/pubmed/25296756 PubMed 2559745 http://www.ncbi.nlm.nih.gov/pubmed/2559745 PubMed 25621951 http://www.ncbi.nlm.nih.gov/pubmed/25621951 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 7539795 http://www.ncbi.nlm.nih.gov/pubmed/7539795 PubMed 7685903 http://www.ncbi.nlm.nih.gov/pubmed/7685903 PubMed 8420959 http://www.ncbi.nlm.nih.gov/pubmed/8420959 Reactome R-HSA-1268020 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1268020 Reactome R-HSA-5205685 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5205685 Reactome R-HSA-5689880 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5689880 RefSeq NP_003365 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_003365 RefSeq XP_005272132 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005272132 RefSeq XP_016865310 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016865310 RefSeq XP_016865311 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016865311 RefSeq XP_016865312 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016865312 SMR P21796 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P21796 STRING 9606.ENSP00000265333 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000265333&targetmode=cogs UCSC uc003kyp http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003kyp&org=rat UniGene Hs.519320 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.519320 UniProtKB VDAC1_HUMAN http://www.uniprot.org/uniprot/VDAC1_HUMAN UniProtKB-AC P21796 http://www.uniprot.org/uniprot/P21796 charge swissprot:VDAC1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:VDAC1_HUMAN eggNOG ENOG410ZBK1 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410ZBK1 eggNOG KOG3126 http://eggnogapi.embl.de/nog_data/html/tree/KOG3126 epestfind swissprot:VDAC1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:VDAC1_HUMAN garnier swissprot:VDAC1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:VDAC1_HUMAN helixturnhelix swissprot:VDAC1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:VDAC1_HUMAN hmoment swissprot:VDAC1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:VDAC1_HUMAN iep swissprot:VDAC1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:VDAC1_HUMAN inforesidue swissprot:VDAC1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:VDAC1_HUMAN neXtProt NX_P21796 http://www.nextprot.org/db/entry/NX_P21796 octanol swissprot:VDAC1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:VDAC1_HUMAN pepcoil swissprot:VDAC1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:VDAC1_HUMAN pepdigest swissprot:VDAC1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:VDAC1_HUMAN pepinfo swissprot:VDAC1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:VDAC1_HUMAN pepnet swissprot:VDAC1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:VDAC1_HUMAN pepstats swissprot:VDAC1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:VDAC1_HUMAN pepwheel swissprot:VDAC1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:VDAC1_HUMAN pepwindow swissprot:VDAC1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:VDAC1_HUMAN sigcleave swissprot:VDAC1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:VDAC1_HUMAN ## Database ID URL or Descriptions # AltName ATPO_HUMAN Oligomycin sensitivity conferral protein # BioGrid 107021 101 # Ensembl ENST00000290299 ENSP00000290299; ENSG00000241837 # ExpressionAtlas P48047 baseline and differential # FUNCTION ATPO_HUMAN Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(0) domain and the peripheric stalk, which acts as a stator to hold the catalytic alpha(3)beta(3) subcomplex and subunit a/ATP6 static relative to the rotary elements. # GO_component GO:0005634 nucleus; IDA:UniProtKB. # GO_component GO:0005739 mitochondrion; IDA:UniProtKB. # GO_component GO:0005743 mitochondrial inner membrane; TAS:Reactome. # GO_component GO:0005753 mitochondrial proton-transporting ATP synthase complex; IDA:UniProtKB. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0031012 extracellular matrix; IDA:BHF-UCL. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0005215 transporter activity; NAS:ProtInc. # GO_function GO:0008144 drug binding; IDA:UniProtKB. # GO_function GO:0022857 transmembrane transporter activity; IC:UniProtKB. # GO_function GO:0046933 proton-transporting ATP synthase activity, rotational mechanism; IEA:InterPro. # GO_process GO:0006754 ATP biosynthetic process; NAS:UniProtKB. # GO_process GO:0015992 proton transport; NAS:UniProtKB. # GO_process GO:0042776 mitochondrial ATP synthesis coupled proton transport; IMP:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005739 mitochondrion # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0044281 small molecule metabolic process # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.10.520.20 -; 1. # Genevisible P48047 HS # HAMAP MF_01416 ATP_synth_delta_bact # HGNC HGNC:850 ATP5O # INTERACTION ATPO_HUMAN Q96JN2-2 CCDC136; NbExp=3; IntAct=EBI-355815, EBI-10171416; Q8NHQ1 CEP70; NbExp=5; IntAct=EBI-355815, EBI-739624; Q6NT76 HMBOX1; NbExp=3; IntAct=EBI-355815, EBI-2549423; A1A4E9 KRT13; NbExp=3; IntAct=EBI-355815, EBI-10171552; P19012 KRT15; NbExp=3; IntAct=EBI-355815, EBI-739566; Q8TD10 MIPOL1; NbExp=3; IntAct=EBI-355815, EBI-2548751; O14777 NDC80; NbExp=3; IntAct=EBI-355815, EBI-715849; P49902 NT5C2; NbExp=3; IntAct=EBI-355815, EBI-742084; Q8ND90 PNMA1; NbExp=4; IntAct=EBI-355815, EBI-302345; Q9UBB9 TFIP11; NbExp=3; IntAct=EBI-355815, EBI-1105213; Q15654 TRIP6; NbExp=3; IntAct=EBI-355815, EBI-742327; Q8N6Y0 USHBP1; NbExp=3; IntAct=EBI-355815, EBI-739895; O43829 ZBTB14; NbExp=3; IntAct=EBI-355815, EBI-10176632; # IntAct P48047 54 # InterPro IPR000711 ATPase_OSCP/dsu # InterPro IPR020781 ATPase_OSCP/d_CS # InterPro IPR026015 ATP_synth_OSCP/delta_N # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Brite ko01000 Enzymes # KEGG_Pathway ko00190 Oxidative phosphorylation # KEGG_Pathway ko05010 Alzheimer's disease # KEGG_Pathway ko05012 Parkinson's disease # KEGG_Pathway ko05016 Huntington's disease # MIM 600828 gene # Organism ATPO_HUMAN Homo sapiens (Human) # PANTHER PTHR11910 PTHR11910 # PRINTS PR00125 ATPASEDELTA # PROSITE PS00389 ATPASE_DELTA # PTM ATPO_HUMAN Acetylation at Lys-162 decreases ATP production. Deacetylated by SIRT3. {ECO 0000269|Ref.11}. # Pfam PF00213 OSCP # Proteomes UP000005640 Chromosome 21 # Reactome R-HSA-163210 Formation of ATP by chemiosmotic coupling # RecName ATPO_HUMAN ATP synthase subunit O, mitochondrial # RefSeq NP_001688 NM_001697.2 # SIMILARITY Belongs to the ATPase delta chain family. {ECO 0000305}. # SUBCELLULAR LOCATION ATPO_HUMAN Mitochondrion {ECO 0000250}. Mitochondrion inner membrane {ECO 0000250}. # SUBUNIT F-type ATPases have 2 components, CF(1) - the catalytic core - and CF(0) - the membrane proton channel. CF(1) has five subunits: alpha(3), beta(3), gamma(1), delta(1), epsilon(1). CF(0) has three main subunits a, b and c. Component of an ATP synthase complex composed of ATP5F1, ATP5G1, ATP5E, ATP5H, ATP5I, ATP5J, ATP5J2, MT-ATP6, MT-ATP8, ATP5A1, ATP5B, ATP5D, ATP5C1, ATP5O, ATP5L, USMG5 and MP68 (By similarity). {ECO:0000250}. # SUPFAM SSF47928 SSF47928 # TIGRFAMs TIGR01145 ATP_synt_delta # UCSC uc002ytl human # eggNOG COG0712 LUCA # eggNOG KOG1662 Eukaryota BLAST swissprot:ATPO_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ATPO_HUMAN BioCyc ZFISH:HS08368-MONOMER http://biocyc.org/getid?id=ZFISH:HS08368-MONOMER COG COG0712 http://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=COG0712 COXPRESdb 539 http://coxpresdb.jp/data/gene/539.shtml CleanEx HS_ATP5O http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ATP5O DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1006/geno.1995.1176 http://dx.doi.org/10.1006/geno.1995.1176 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1038/nbt810 http://dx.doi.org/10.1038/nbt810 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1175371 http://dx.doi.org/10.1126/science.1175371 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AK222962 http://www.ebi.ac.uk/ena/data/view/AK222962 EMBL AK311796 http://www.ebi.ac.uk/ena/data/view/AK311796 EMBL BC021233 http://www.ebi.ac.uk/ena/data/view/BC021233 EMBL BC022865 http://www.ebi.ac.uk/ena/data/view/BC022865 EMBL BT019836 http://www.ebi.ac.uk/ena/data/view/BT019836 EMBL CH471079 http://www.ebi.ac.uk/ena/data/view/CH471079 EMBL CR456822 http://www.ebi.ac.uk/ena/data/view/CR456822 EMBL X83218 http://www.ebi.ac.uk/ena/data/view/X83218 Ensembl ENST00000290299 http://www.ensembl.org/id/ENST00000290299 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0005753 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005753 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0031012 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031012 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0005215 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005215 GO_function GO:0008144 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008144 GO_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GO_function GO:0046933 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046933 GO_process GO:0006754 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006754 GO_process GO:0015992 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015992 GO_process GO:0042776 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042776 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.10.520.20 http://www.cathdb.info/version/latest/superfamily/1.10.520.20 GeneCards ATP5O http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ATP5O GeneID 539 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=539 GeneTree ENSGT00390000015060 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000015060 H-InvDB HIX0158705 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0158705 HAMAP MF_01416 http://hamap.expasy.org/unirule/MF_01416 HGNC HGNC:850 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:850 HOGENOM HOG000075825 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000075825&db=HOGENOM6 HOVERGEN HBG004309 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG004309&db=HOVERGEN HPA CAB016209 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB016209 HPA HPA041394 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA041394 InParanoid P48047 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P48047 IntAct P48047 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P48047* InterPro IPR000711 http://www.ebi.ac.uk/interpro/entry/IPR000711 InterPro IPR020781 http://www.ebi.ac.uk/interpro/entry/IPR020781 InterPro IPR026015 http://www.ebi.ac.uk/interpro/entry/IPR026015 Jabion 539 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=539 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00002 http://www.genome.jp/dbget-bin/www_bget?ko00002 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Gene hsa:539 http://www.genome.jp/dbget-bin/www_bget?hsa:539 KEGG_Orthology KO:K02137 http://www.genome.jp/dbget-bin/www_bget?KO:K02137 KEGG_Pathway ko00190 http://www.genome.jp/kegg-bin/show_pathway?ko00190 KEGG_Pathway ko05010 http://www.genome.jp/kegg-bin/show_pathway?ko05010 KEGG_Pathway ko05012 http://www.genome.jp/kegg-bin/show_pathway?ko05012 KEGG_Pathway ko05016 http://www.genome.jp/kegg-bin/show_pathway?ko05016 MIM 600828 http://www.ncbi.nlm.nih.gov/omim/600828 MINT MINT-5002594 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-5002594 OMA MNPHVKR http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=MNPHVKR OrthoDB EOG091G0L4M http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0L4M PANTHER PTHR11910 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11910 PRINTS PR00125 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00125 PROSITE PS00389 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00389 PSORT swissprot:ATPO_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ATPO_HUMAN PSORT-B swissprot:ATPO_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ATPO_HUMAN PSORT2 swissprot:ATPO_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ATPO_HUMAN Pfam PF00213 http://pfam.xfam.org/family/PF00213 PharmGKB PA25144 http://www.pharmgkb.org/do/serve?objId=PA25144&objCls=Gene Phobius swissprot:ATPO_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ATPO_HUMAN PhylomeDB P48047 http://phylomedb.org/?seqid=P48047 ProteinModelPortal P48047 http://www.proteinmodelportal.org/query/uniprot/P48047 PubMed 12665801 http://www.ncbi.nlm.nih.gov/pubmed/12665801 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 19608861 http://www.ncbi.nlm.nih.gov/pubmed/19608861 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 7490082 http://www.ncbi.nlm.nih.gov/pubmed/7490082 Reactome R-HSA-163210 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-163210 RefSeq NP_001688 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001688 STRING 9606.ENSP00000290299 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000290299&targetmode=cogs STRING COG0712 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=COG0712&targetmode=cogs SUPFAM SSF47928 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF47928 TIGRFAMs TIGR01145 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01145 UCSC uc002ytl http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002ytl&org=rat UniGene Hs.409140 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.409140 UniProtKB ATPO_HUMAN http://www.uniprot.org/uniprot/ATPO_HUMAN UniProtKB-AC P48047 http://www.uniprot.org/uniprot/P48047 charge swissprot:ATPO_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ATPO_HUMAN eggNOG COG0712 http://eggnogapi.embl.de/nog_data/html/tree/COG0712 eggNOG KOG1662 http://eggnogapi.embl.de/nog_data/html/tree/KOG1662 epestfind swissprot:ATPO_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ATPO_HUMAN garnier swissprot:ATPO_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ATPO_HUMAN helixturnhelix swissprot:ATPO_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ATPO_HUMAN hmoment swissprot:ATPO_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ATPO_HUMAN iep swissprot:ATPO_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ATPO_HUMAN inforesidue swissprot:ATPO_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ATPO_HUMAN neXtProt NX_P48047 http://www.nextprot.org/db/entry/NX_P48047 octanol swissprot:ATPO_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ATPO_HUMAN pepcoil swissprot:ATPO_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ATPO_HUMAN pepdigest swissprot:ATPO_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ATPO_HUMAN pepinfo swissprot:ATPO_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ATPO_HUMAN pepnet swissprot:ATPO_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ATPO_HUMAN pepstats swissprot:ATPO_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ATPO_HUMAN pepwheel swissprot:ATPO_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ATPO_HUMAN pepwindow swissprot:ATPO_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ATPO_HUMAN sigcleave swissprot:ATPO_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ATPO_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS CXD3_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8N144-1; Sequence=Displayed; Name=2; IsoId=Q8N144-2; Sequence=VSP_029984; Note=No experimental confirmation available.; # AltName CXD3_HUMAN Connexin-31.9 # AltName CXD3_HUMAN Gap junction alpha-11 protein # AltName CXD3_HUMAN Gap junction chi-1 protein # CCDS CCDS58547 -. [Q8N144-1] # Ensembl ENST00000578689 ENSP00000463752; ENSG00000183153. [Q8N144-1] # FUNCTION CXD3_HUMAN One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell. {ECO 0000250}. # GO_component GO:0005887 integral component of plasma membrane; TAS:UniProtKB. # GO_component GO:0005922 connexin complex; IDA:UniProtKB. # GO_component GO:0009986 cell surface; IDA:UniProtKB. # GO_function GO:0005216 ion channel activity; IEA:Ensembl. # GO_function GO:0005243 gap junction channel activity; IEA:Ensembl. # GO_process GO:0007154 cell communication; TAS:UniProtKB. # GO_process GO:0009749 response to glucose; IEA:Ensembl. # GO_process GO:0016264 gap junction assembly; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0043234 protein complex # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0008150 biological_process # GOslim_process GO:0022607 cellular component assembly # GOslim_process GO:0034330 cell junction organization # Genevisible Q8N144 HS # HGNC HGNC:19147 GJD3 # INTERACTION CXD3_HUMAN Q07157 TJP1; NbExp=2; IntAct=EBI-2629520, EBI-79553; # InterPro IPR000500 Connexin # InterPro IPR013092 Connexin_N # InterPro IPR017990 Connexin_CS # InterPro IPR019570 Connexin_CCC # MIM 607425 gene # Organism CXD3_HUMAN Homo sapiens (Human) # PANTHER PTHR11984 PTHR11984 # PRINTS PR00206 CONNEXIN # PROSITE PS00408 CONNEXINS_2 # Pfam PF00029 Connexin # Proteomes UP000005640 Chromosome 17 # Reactome R-HSA-190861 Gap junction assembly # RecName CXD3_HUMAN Gap junction delta-3 protein # RefSeq NP_689343 NM_152219.3. [Q8N144-1] # SIMILARITY Belongs to the connexin family. Delta-type subfamily. {ECO 0000305}. # SMART SM00037 CNX # SMART SM01089 Connexin_CCC # SUBCELLULAR LOCATION CXD3_HUMAN Cell membrane {ECO 0000269|PubMed 12154091}; Multi-pass membrane protein {ECO 0000269|PubMed 12154091}. Cell junction, gap junction {ECO 0000269|PubMed 12154091}. # SUBUNIT A connexon is composed of a hexamer of connexins (By similarity). Interacts with TJP1. {ECO:0000250, ECO 0000269|PubMed:12154091}. # TISSUE SPECIFICITY CXD3_HUMAN Expressed in vascular smooth muscle cells. Found in heart, colon, and artery (at protein level). Found in cerebral cortex, heart, liver, lung, kidney, spleen and testis. {ECO 0000269|PubMed 12154091, ECO 0000269|PubMed 12176752}. # UCSC uc010cwz human. [Q8N144-1] # eggNOG ENOG410IEGI Eukaryota # eggNOG ENOG4111HI4 LUCA BLAST swissprot:CXD3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CXD3_HUMAN BioCyc ZFISH:G66-32416-MONOMER http://biocyc.org/getid?id=ZFISH:G66-32416-MONOMER COXPRESdb 125111 http://coxpresdb.jp/data/gene/125111.shtml CleanEx HS_GJC1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_GJC1 CleanEx HS_GJD3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_GJD3 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.M205348200 http://dx.doi.org/10.1074/jbc.M205348200 DOI 10.1152/ajpcell.00163.2002 http://dx.doi.org/10.1152/ajpcell.00163.2002 EMBL AF514298 http://www.ebi.ac.uk/ena/data/view/AF514298 EMBL AK125254 http://www.ebi.ac.uk/ena/data/view/AK125254 EMBL AY093445 http://www.ebi.ac.uk/ena/data/view/AY093445 EMBL CH471152 http://www.ebi.ac.uk/ena/data/view/CH471152 Ensembl ENST00000578689 http://www.ensembl.org/id/ENST00000578689 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0005922 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005922 GO_component GO:0009986 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009986 GO_function GO:0005216 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005216 GO_function GO:0005243 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005243 GO_process GO:0007154 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007154 GO_process GO:0009749 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009749 GO_process GO:0016264 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016264 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0022607 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022607 GOslim_process GO:0034330 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034330 GeneCards GJD3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=GJD3 GeneID 125111 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=125111 GeneTree ENSGT00840000129674 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00840000129674 H-InvDB HIX0079908 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0079908 HGNC HGNC:19147 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:19147 HOGENOM HOG000231127 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231127&db=HOGENOM6 HOVERGEN HBG009576 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG009576&db=HOVERGEN InParanoid Q8N144 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8N144 IntAct Q8N144 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q8N144* InterPro IPR000500 http://www.ebi.ac.uk/interpro/entry/IPR000500 InterPro IPR013092 http://www.ebi.ac.uk/interpro/entry/IPR013092 InterPro IPR017990 http://www.ebi.ac.uk/interpro/entry/IPR017990 InterPro IPR019570 http://www.ebi.ac.uk/interpro/entry/IPR019570 Jabion 125111 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=125111 KEGG_Gene hsa:125111 http://www.genome.jp/dbget-bin/www_bget?hsa:125111 KEGG_Orthology KO:K07627 http://www.genome.jp/dbget-bin/www_bget?KO:K07627 MIM 607425 http://www.ncbi.nlm.nih.gov/omim/607425 OMA ACAGPPC http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=ACAGPPC OrthoDB EOG091G0KR7 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0KR7 PANTHER PTHR11984 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11984 PRINTS PR00206 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00206 PROSITE PS00408 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00408 PSORT swissprot:CXD3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CXD3_HUMAN PSORT-B swissprot:CXD3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CXD3_HUMAN PSORT2 swissprot:CXD3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CXD3_HUMAN Pfam PF00029 http://pfam.xfam.org/family/PF00029 PharmGKB PA162389707 http://www.pharmgkb.org/do/serve?objId=PA162389707&objCls=Gene Phobius swissprot:CXD3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CXD3_HUMAN PhylomeDB Q8N144 http://phylomedb.org/?seqid=Q8N144 ProteinModelPortal Q8N144 http://www.proteinmodelportal.org/query/uniprot/Q8N144 PubMed 12154091 http://www.ncbi.nlm.nih.gov/pubmed/12154091 PubMed 12176752 http://www.ncbi.nlm.nih.gov/pubmed/12176752 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 Reactome R-HSA-190861 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-190861 RefSeq NP_689343 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_689343 SMART SM00037 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00037 SMART SM01089 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM01089 STRING 9606.ENSP00000336832 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000336832&targetmode=cogs UCSC uc010cwz http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc010cwz&org=rat UniGene Hs.444663 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.444663 UniProtKB CXD3_HUMAN http://www.uniprot.org/uniprot/CXD3_HUMAN UniProtKB-AC Q8N144 http://www.uniprot.org/uniprot/Q8N144 charge swissprot:CXD3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CXD3_HUMAN eggNOG ENOG410IEGI http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IEGI eggNOG ENOG4111HI4 http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111HI4 epestfind swissprot:CXD3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CXD3_HUMAN garnier swissprot:CXD3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CXD3_HUMAN helixturnhelix swissprot:CXD3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CXD3_HUMAN hmoment swissprot:CXD3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CXD3_HUMAN iep swissprot:CXD3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CXD3_HUMAN inforesidue swissprot:CXD3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CXD3_HUMAN neXtProt NX_Q8N144 http://www.nextprot.org/db/entry/NX_Q8N144 octanol swissprot:CXD3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CXD3_HUMAN pepcoil swissprot:CXD3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CXD3_HUMAN pepdigest swissprot:CXD3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CXD3_HUMAN pepinfo swissprot:CXD3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CXD3_HUMAN pepnet swissprot:CXD3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CXD3_HUMAN pepstats swissprot:CXD3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CXD3_HUMAN pepwheel swissprot:CXD3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CXD3_HUMAN pepwindow swissprot:CXD3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CXD3_HUMAN sigcleave swissprot:CXD3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CXD3_HUMAN ## Database ID URL or Descriptions # AltName TRPM7_HUMAN Channel-kinase 1 # AltName TRPM7_HUMAN Long transient receptor potential channel 7 # BioGrid 120177 23 # CATALYTIC ACTIVITY TRPM7_HUMAN ATP + a protein = ADP + a phosphoprotein. # COFACTOR TRPM7_HUMAN Name=Zn(2+); Xref=ChEBI CHEBI 29105; Evidence={ECO 0000250}; Note=Binds 1 zinc ion per subunit. {ECO 0000250}; # ChiTaRS TRPM7 human # DISEASE TRPM7_HUMAN Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 (ALS-PDC1) [MIM 105500] A neurodegenerative disorder characterized by chronic, progressive and uniformly fatal amyotrophic lateral sclerosis and parkinsonism-dementia. Both diseases are known to occur in the same kindred, the same sibship and even the same individual. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. # Ensembl ENST00000313478 ENSP00000320239; ENSG00000092439 # ExpressionAtlas Q96QT4 baseline and differential # FUNCTION TRPM7_HUMAN Essential ion channel and serine/threonine-protein kinase. Divalent cation channel permeable to calcium and magnesium. Has a central role in magnesium ion homeostasis and in the regulation of anoxic neuronal cell death. Involved in TNF- induced necroptosis downstream of MLKL by mediating calcium influx. The kinase activity is essential for the channel function. May be involved in a fundamental process that adjusts plasma membrane divalent cation fluxes according to the metabolic state of the cell. Phosphorylates annexin A1 (ANXA1). {ECO 0000269|PubMed 12887921, ECO 0000269|PubMed 15485879, ECO 0000269|PubMed 24316671}. # GO_component GO:0001726 ruffle; IEA:Ensembl. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0004674 protein serine/threonine kinase activity; IEA:UniProtKB-KW. # GO_function GO:0005262 calcium channel activity; TAS:Reactome. # GO_function GO:0005524 ATP binding; IEA:UniProtKB-KW. # GO_function GO:0046872 metal ion binding; IEA:UniProtKB-KW. # GO_process GO:0010961 cellular magnesium ion homeostasis; IEA:InterPro. # GO_process GO:0016340 calcium-dependent cell-matrix adhesion; IEA:Ensembl. # GO_process GO:0031032 actomyosin structure organization; IEA:Ensembl. # GO_process GO:0046777 protein autophosphorylation; IEA:Ensembl. # GO_process GO:0051262 protein tetramerization; IEA:InterPro. # GO_process GO:0070266 necroptotic process; IMP:UniProtKB. # GO_process GO:0070588 calcium ion transmembrane transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0016301 kinase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006464 cellular protein modification process # GOslim_process GO:0007010 cytoskeleton organization # GOslim_process GO:0007155 cell adhesion # GOslim_process GO:0008219 cell death # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Genevisible Q96QT4 HS # HGNC HGNC:17994 TRPM7 # IntAct Q96QT4 4 # InterPro IPR004166 MHCK_EF2_kinase # InterPro IPR005821 Ion_trans_dom # InterPro IPR011009 Kinase-like_dom # InterPro IPR029601 TRPM7 # InterPro IPR032415 TRPM_tetra # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko01000 Enzymes # KEGG_Brite ko01001 Protein kinases # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04978 Mineral absorption # MIM 105500 phenotype # MIM 605692 gene # Organism TRPM7_HUMAN Homo sapiens (Human) # Orphanet 90020 Amyotrophic lateral sclerosis-parkinsonism-dementia complex # PANTHER PTHR13800:SF8 PTHR13800:SF8; 3 # PROSITE PS51158 ALPHA_KINASE # PTM TRPM7_HUMAN Autophosphorylated. {ECO 0000250}. # Pfam PF00520 Ion_trans # Pfam PF02816 Alpha_kinase # Pfam PF16519 TRPM_tetra # Proteomes UP000005640 Chromosome 15 # Reactome R-HSA-3295583 TRP channels # RecName TRPM7_HUMAN Transient receptor potential cation channel subfamily M member 7 # RefSeq NP_001288141 NM_001301212.1 # RefSeq NP_060142 NM_017672.5 # SEQUENCE CAUTION Sequence=BAC11462.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAD18773.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Contains 1 alpha-type protein kinase domain. {ECO:0000255|PROSITE-ProRule PRU00501}. # SIMILARITY In the C-terminal section; belongs to the protein kinase superfamily. Alpha-type protein kinase family. ALPK subfamily. {ECO 0000305}. # SIMILARITY In the N-terminal section; belongs to the transient receptor (TC 1.A.4) family. LTrpC subfamily. TRPM7 sub-subfamily. {ECO 0000305}. # SMART SM00811 Alpha_kinase # SUBCELLULAR LOCATION TRPM7_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # SUBUNIT Homodimer. Interacts with PLCB1 (By similarity). Forms heterodimers with TRPM6. {ECO:0000250, ECO 0000269|PubMed:14976260}. # SUPFAM SSF56112 SSF56112 # TCDB 1.A.4.5 the transient receptor potential ca(2+) channel (trp-cc) family # UCSC uc001zyt human # eggNOG ENOG410XR5B LUCA # eggNOG KOG3614 Eukaryota BLAST swissprot:TRPM7_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:TRPM7_HUMAN BioCyc ZFISH:HS01771-MONOMER http://biocyc.org/getid?id=ZFISH:HS01771-MONOMER COXPRESdb 54822 http://coxpresdb.jp/data/gene/54822.shtml CleanEx HS_TRPM7 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_TRPM7 DOI 10.1016/S0092-8674(03)00556-7 http://dx.doi.org/10.1016/S0092-8674(03)00556-7 DOI 10.1021/ac9004309 http://dx.doi.org/10.1021/ac9004309 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/35079092 http://dx.doi.org/10.1038/35079092 DOI 10.1038/nature05610 http://dx.doi.org/10.1038/nature05610 DOI 10.1038/ncb2883 http://dx.doi.org/10.1038/ncb2883 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.0305252101 http://dx.doi.org/10.1073/pnas.0305252101 DOI 10.1073/pnas.0505149102 http://dx.doi.org/10.1073/pnas.0505149102 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1074/jbc.C400441200 http://dx.doi.org/10.1074/jbc.C400441200 DOI 10.1074/jbc.M308820200 http://dx.doi.org/10.1074/jbc.M308820200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 EC_number EC:2.7.11.1 http://www.genome.jp/dbget-bin/www_bget?EC:2.7.11.1 EMBL AF346629 http://www.ebi.ac.uk/ena/data/view/AF346629 EMBL AK000124 http://www.ebi.ac.uk/ena/data/view/AK000124 EMBL AK075193 http://www.ebi.ac.uk/ena/data/view/AK075193 EMBL AK172800 http://www.ebi.ac.uk/ena/data/view/AK172800 EMBL AY032950 http://www.ebi.ac.uk/ena/data/view/AY032950 EMBL BC051024 http://www.ebi.ac.uk/ena/data/view/BC051024 ENZYME 2.7.11.1 http://enzyme.expasy.org/EC/2.7.11.1 Ensembl ENST00000313478 http://www.ensembl.org/id/ENST00000313478 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0001726 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001726 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0004674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004674 GO_function GO:0005262 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005262 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0046872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046872 GO_process GO:0010961 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010961 GO_process GO:0016340 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016340 GO_process GO:0031032 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031032 GO_process GO:0046777 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046777 GO_process GO:0051262 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051262 GO_process GO:0070266 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070266 GO_process GO:0070588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070588 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0016301 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016301 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006464 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006464 GOslim_process GO:0007010 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007010 GOslim_process GO:0007155 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007155 GOslim_process GO:0008219 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008219 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards TRPM7 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=TRPM7 GeneID 54822 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=54822 GeneTree ENSGT00760000119127 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119127 HGNC HGNC:17994 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:17994 HOGENOM HOG000230920 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000230920&db=HOGENOM6 HOVERGEN HBG055663 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG055663&db=HOVERGEN HPA HPA035523 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA035523 HPA HPA052173 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA052173 InParanoid Q96QT4 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q96QT4 IntAct Q96QT4 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q96QT4* IntEnz 2.7.11.1 http://www.ebi.ac.uk/intenz/query?cmd=Search&q=2.7.11.1 InterPro IPR004166 http://www.ebi.ac.uk/interpro/entry/IPR004166 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR011009 http://www.ebi.ac.uk/interpro/entry/IPR011009 InterPro IPR029601 http://www.ebi.ac.uk/interpro/entry/IPR029601 InterPro IPR032415 http://www.ebi.ac.uk/interpro/entry/IPR032415 Jabion 54822 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=54822 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Brite ko01001 http://www.genome.jp/dbget-bin/www_bget?ko01001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:54822 http://www.genome.jp/dbget-bin/www_bget?hsa:54822 KEGG_Orthology KO:K04982 http://www.genome.jp/dbget-bin/www_bget?KO:K04982 KEGG_Pathway ko04978 http://www.genome.jp/kegg-bin/show_pathway?ko04978 MIM 105500 http://www.ncbi.nlm.nih.gov/omim/105500 MIM 605692 http://www.ncbi.nlm.nih.gov/omim/605692 MINT MINT-2815126 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-2815126 OMA KQGPTNP http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=KQGPTNP Orphanet 90020 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=90020 OrthoDB EOG091G0DHL http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0DHL PANTHER PTHR13800:SF8 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR13800:SF8 PROSITE PS51158 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51158 PSORT swissprot:TRPM7_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:TRPM7_HUMAN PSORT-B swissprot:TRPM7_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:TRPM7_HUMAN PSORT2 swissprot:TRPM7_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:TRPM7_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF02816 http://pfam.xfam.org/family/PF02816 Pfam PF16519 http://pfam.xfam.org/family/PF16519 PharmGKB PA38273 http://www.pharmgkb.org/do/serve?objId=PA38273&objCls=Gene Phobius swissprot:TRPM7_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:TRPM7_HUMAN PhylomeDB Q96QT4 http://phylomedb.org/?seqid=Q96QT4 ProteinModelPortal Q96QT4 http://www.proteinmodelportal.org/query/uniprot/Q96QT4 PubMed 11385574 http://www.ncbi.nlm.nih.gov/pubmed/11385574 PubMed 12887921 http://www.ncbi.nlm.nih.gov/pubmed/12887921 PubMed 14594813 http://www.ncbi.nlm.nih.gov/pubmed/14594813 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 14976260 http://www.ncbi.nlm.nih.gov/pubmed/14976260 PubMed 15485879 http://www.ncbi.nlm.nih.gov/pubmed/15485879 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16051700 http://www.ncbi.nlm.nih.gov/pubmed/16051700 PubMed 17344846 http://www.ncbi.nlm.nih.gov/pubmed/17344846 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 19413330 http://www.ncbi.nlm.nih.gov/pubmed/19413330 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 24316671 http://www.ncbi.nlm.nih.gov/pubmed/24316671 Reactome R-HSA-3295583 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-3295583 RefSeq NP_001288141 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001288141 RefSeq NP_060142 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_060142 SMART SM00811 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00811 SMR Q96QT4 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q96QT4 STRING 9606.ENSP00000320239 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000320239&targetmode=cogs SUPFAM SSF56112 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF56112 TCDB 1.A.4.5 http://www.tcdb.org/search/result.php?tc=1.A.4.5 UCSC uc001zyt http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001zyt&org=rat UniGene Hs.512894 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.512894 UniProtKB TRPM7_HUMAN http://www.uniprot.org/uniprot/TRPM7_HUMAN UniProtKB-AC Q96QT4 http://www.uniprot.org/uniprot/Q96QT4 charge swissprot:TRPM7_HUMAN http://rest.g-language.org/emboss/charge/swissprot:TRPM7_HUMAN eggNOG ENOG410XR5B http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XR5B eggNOG KOG3614 http://eggnogapi.embl.de/nog_data/html/tree/KOG3614 epestfind swissprot:TRPM7_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:TRPM7_HUMAN garnier swissprot:TRPM7_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:TRPM7_HUMAN helixturnhelix swissprot:TRPM7_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:TRPM7_HUMAN hmoment swissprot:TRPM7_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:TRPM7_HUMAN iep swissprot:TRPM7_HUMAN http://rest.g-language.org/emboss/iep/swissprot:TRPM7_HUMAN inforesidue swissprot:TRPM7_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:TRPM7_HUMAN neXtProt NX_Q96QT4 http://www.nextprot.org/db/entry/NX_Q96QT4 octanol swissprot:TRPM7_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:TRPM7_HUMAN pepcoil swissprot:TRPM7_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:TRPM7_HUMAN pepdigest swissprot:TRPM7_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:TRPM7_HUMAN pepinfo swissprot:TRPM7_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:TRPM7_HUMAN pepnet swissprot:TRPM7_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:TRPM7_HUMAN pepstats swissprot:TRPM7_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:TRPM7_HUMAN pepwheel swissprot:TRPM7_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:TRPM7_HUMAN pepwindow swissprot:TRPM7_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:TRPM7_HUMAN sigcleave swissprot:TRPM7_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:TRPM7_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS Event=Alternative splicing, Alternative initiation; Named isoforms=3; Comment=A number of isoforms are produced by alternative initiation. Isoforms start at multiple alternative CUG and GUG codons. {ECO:0000269|PubMed 11350958}; Name=1; IsoId=Q15758-1; Sequence=Displayed; Name=2; IsoId=Q15758-2; Sequence=VSP_046354; Note=No experimental confirmation available.; Name=3; IsoId=Q15758-3; Sequence=VSP_046851; Note=No experimental confirmation available.; # AltName AAAT_HUMAN Baboon M7 virus receptor # AltName AAAT_HUMAN RD114/simian type D retrovirus receptor # AltName AAAT_HUMAN Sodium-dependent neutral amino acid transporter type 2 # AltName AAAT_HUMAN Solute carrier family 1 member 5 # BioGrid 112401 60 # CCDS CCDS12692 -. [Q15758-1] # CCDS CCDS46125 -. [Q15758-2] # CCDS CCDS46126 -. [Q15758-3] # ChiTaRS SLC1A5 human # DrugBank DB00130 L-Glutamine # DrugBank DB00174 L-Asparagine # Ensembl ENST00000412532 ENSP00000397924; ENSG00000105281. [Q15758-3] # Ensembl ENST00000434726 ENSP00000406532; ENSG00000105281. [Q15758-2] # Ensembl ENST00000542575 ENSP00000444408; ENSG00000105281. [Q15758-1] # ExpressionAtlas Q15758 baseline and differential # FUNCTION AAAT_HUMAN (Microbial infection) Acts as a cell surface receptor for feline endogenous virus RD114, baboon M7 endogenous virus and type D simian retroviruses. {ECO 0000269|PubMed 10051606, ECO 0000269|PubMed 10196349}. # FUNCTION AAAT_HUMAN Sodium-dependent amino acids transporter that has a broad substrate specificity, with a preference for zwitterionic amino acids. It accepts as substrates all neutral amino acids, including glutamine, asparagine, and branched-chain and aromatic amino acids, and excludes methylated, anionic, and cationic amino acids (PubMed 8702519). Through binding of the fusogenic protein syncytin-1/ERVW-1 may mediate trophoblasts syncytialization, the spontaneous fusion of their plasma membranes, an essential process in placental development (PubMed 10708449, PubMed 23492904). {ECO 0000269|PubMed 10708449, ECO 0000269|PubMed 23492904, ECO 0000269|PubMed 8702519}. # GO_component GO:0005794 Golgi apparatus; IDA:HPA. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0042470 melanosome; IEA:UniProtKB-SubCell. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0001618 virus receptor activity; IEA:UniProtKB-KW. # GO_function GO:0004872 receptor activity; TAS:ProtInc. # GO_function GO:0015171 amino acid transmembrane transporter activity; TAS:Reactome. # GO_function GO:0015175 neutral amino acid transmembrane transporter activity; TAS:ProtInc. # GO_function GO:0015186 L-glutamine transmembrane transporter activity; TAS:BHF-UCL. # GO_function GO:0015194 L-serine transmembrane transporter activity; IEA:Ensembl. # GO_function GO:0015293 symporter activity; IEA:UniProtKB-KW. # GO_process GO:0006860 extracellular amino acid transport; IEA:Ensembl. # GO_process GO:0006865 amino acid transport; TAS:Reactome. # GO_process GO:0006868 glutamine transport; TAS:BHF-UCL. # GO_process GO:0015804 neutral amino acid transport; TAS:ProtInc. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005794 Golgi apparatus # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0031410 cytoplasmic vesicle # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # Gene3D 1.10.3860.10 -; 1. # Genevisible Q15758 HS # HGNC HGNC:10943 SLC1A5 # INTERACTION AAAT_HUMAN Q99942 RNF5; NbExp=4; IntAct=EBI-356576, EBI-348482; # IntAct Q15758 38 # InterPro IPR001991 Na-dicarboxylate_symporter # InterPro IPR018107 Na-dicarboxylate_symporter_CS # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02001 Solute carrier family # KEGG_Pathway ko04974 Protein digestion and absorption # MIM 109190 gene # Organism AAAT_HUMAN Homo sapiens (Human) # PANTHER PTHR11958 PTHR11958 # PRINTS PR00173 EDTRNSPORT # PROSITE PS00713 NA_DICARBOXYL_SYMP_1 # PROSITE PS00714 NA_DICARBOXYL_SYMP_2 # Pfam PF00375 SDF # Proteomes UP000005640 Chromosome 19 # Reactome R-HSA-352230 Amino acid transport across the plasma membrane # RecName AAAT_HUMAN Neutral amino acid transporter B(0) # RefSeq NP_001138616 NM_001145144.1. [Q15758-3] # RefSeq NP_001138617 NM_001145145.1. [Q15758-2] # RefSeq NP_005619 NM_005628.2. [Q15758-1] # SIMILARITY Belongs to the dicarboxylate/amino acid:cation symporter (DAACS) (TC 2.A.23) family. SLC1A5 subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION AAAT_HUMAN Cell membrane {ECO 0000269|PubMed 8702519}; Multi-pass membrane protein {ECO 0000305}. Melanosome. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. # SUBUNIT Interacts with ERVH48-1/suppressyn; may negatively regulate syncytialization. {ECO:0000269|PubMed 23492904}. # SUPFAM SSF118215 SSF118215 # TCDB 2.A.23.3:the dicarboxylate/amino acid cation (na(+) or h(+)) symporter (daacs) family # TISSUE SPECIFICITY AAAT_HUMAN Placenta, lung, skeletal muscle, kidney, pancreas, and intestine. # UCSC uc002pfr human. [Q15758-1] # eggNOG COG1301 LUCA # eggNOG KOG3787 Eukaryota BLAST swissprot:AAAT_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:AAAT_HUMAN BioCyc ZFISH:ENSG00000105281-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000105281-MONOMER COXPRESdb 6510 http://coxpresdb.jp/data/gene/6510.shtml CleanEx HS_SLC1A5 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC1A5 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1016/j.cell.2006.09.026 http://dx.doi.org/10.1016/j.cell.2006.09.026 DOI 10.1021/ac9004309 http://dx.doi.org/10.1021/ac9004309 DOI 10.1021/pr060363j http://dx.doi.org/10.1021/pr060363j DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature02399 http://dx.doi.org/10.1038/nature02399 DOI 10.1038/nbt.1532 http://dx.doi.org/10.1038/nbt.1532 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1038/srep01462 http://dx.doi.org/10.1038/srep01462 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1073/pnas.1210303109 http://dx.doi.org/10.1073/pnas.1210303109 DOI 10.1073/pnas.96.5.2129 http://dx.doi.org/10.1073/pnas.96.5.2129 DOI 10.1074/jbc.271.31.18657 http://dx.doi.org/10.1074/jbc.271.31.18657 DOI 10.1074/jbc.M100737200 http://dx.doi.org/10.1074/jbc.M100737200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/scisignal.2000007 http://dx.doi.org/10.1126/scisignal.2000007 DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 DOI 10.1126/scisignal.2001570 http://dx.doi.org/10.1126/scisignal.2001570 DOI 10.1128/JVI.74.7.3321-3329.2000 http://dx.doi.org/10.1128/JVI.74.7.3321-3329.2000 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DrugBank DB00130 http://www.drugbank.ca/drugs/DB00130 DrugBank DB00174 http://www.drugbank.ca/drugs/DB00174 EMBL AC008622 http://www.ebi.ac.uk/ena/data/view/AC008622 EMBL AF102826 http://www.ebi.ac.uk/ena/data/view/AF102826 EMBL AF105423 http://www.ebi.ac.uk/ena/data/view/AF105423 EMBL AF334818 http://www.ebi.ac.uk/ena/data/view/AF334818 EMBL AK292690 http://www.ebi.ac.uk/ena/data/view/AK292690 EMBL AK299137 http://www.ebi.ac.uk/ena/data/view/AK299137 EMBL AK301661 http://www.ebi.ac.uk/ena/data/view/AK301661 EMBL AK316546 http://www.ebi.ac.uk/ena/data/view/AK316546 EMBL BC000062 http://www.ebi.ac.uk/ena/data/view/BC000062 EMBL CH471126 http://www.ebi.ac.uk/ena/data/view/CH471126 EMBL GQ919058 http://www.ebi.ac.uk/ena/data/view/GQ919058 EMBL U53347 http://www.ebi.ac.uk/ena/data/view/U53347 Ensembl ENST00000412532 http://www.ensembl.org/id/ENST00000412532 Ensembl ENST00000434726 http://www.ensembl.org/id/ENST00000434726 Ensembl ENST00000542575 http://www.ensembl.org/id/ENST00000542575 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0042470 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042470 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0001618 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001618 GO_function GO:0004872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004872 GO_function GO:0015171 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015171 GO_function GO:0015175 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015175 GO_function GO:0015186 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015186 GO_function GO:0015194 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015194 GO_function GO:0015293 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015293 GO_process GO:0006860 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006860 GO_process GO:0006865 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006865 GO_process GO:0006868 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006868 GO_process GO:0015804 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015804 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0031410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 Gene3D 1.10.3860.10 http://www.cathdb.info/version/latest/superfamily/1.10.3860.10 GeneCards SLC1A5 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC1A5 GeneID 6510 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6510 GeneTree ENSGT00760000119117 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119117 H-InvDB HIX0015262 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0015262 HGNC HGNC:10943 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10943 HOGENOM HOG000208776 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000208776&db=HOGENOM6 HOVERGEN HBG000080 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG000080&db=HOVERGEN HPA HPA035239 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA035239 HPA HPA035240 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA035240 InParanoid Q15758 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q15758 IntAct Q15758 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q15758* InterPro IPR001991 http://www.ebi.ac.uk/interpro/entry/IPR001991 InterPro IPR018107 http://www.ebi.ac.uk/interpro/entry/IPR018107 Jabion 6510 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6510 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:6510 http://www.genome.jp/dbget-bin/www_bget?hsa:6510 KEGG_Orthology KO:K05616 http://www.genome.jp/dbget-bin/www_bget?KO:K05616 KEGG_Pathway ko04974 http://www.genome.jp/kegg-bin/show_pathway?ko04974 MIM 109190 http://www.ncbi.nlm.nih.gov/omim/109190 MINT MINT-5001314 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-5001314 OMA GTDQDGM http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=GTDQDGM OrthoDB EOG091G0UCE http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0UCE PANTHER PTHR11958 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11958 PRINTS PR00173 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00173 PROSITE PS00713 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00713 PROSITE PS00714 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00714 PSORT swissprot:AAAT_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:AAAT_HUMAN PSORT-B swissprot:AAAT_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:AAAT_HUMAN PSORT2 swissprot:AAAT_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:AAAT_HUMAN Pfam PF00375 http://pfam.xfam.org/family/PF00375 PharmGKB PA35830 http://www.pharmgkb.org/do/serve?objId=PA35830&objCls=Gene Phobius swissprot:AAAT_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:AAAT_HUMAN PhylomeDB Q15758 http://phylomedb.org/?seqid=Q15758 ProteinModelPortal Q15758 http://www.proteinmodelportal.org/query/uniprot/Q15758 PubMed 10051606 http://www.ncbi.nlm.nih.gov/pubmed/10051606 PubMed 10196349 http://www.ncbi.nlm.nih.gov/pubmed/10196349 PubMed 10708449 http://www.ncbi.nlm.nih.gov/pubmed/10708449 PubMed 11350958 http://www.ncbi.nlm.nih.gov/pubmed/11350958 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15057824 http://www.ncbi.nlm.nih.gov/pubmed/15057824 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 17081065 http://www.ncbi.nlm.nih.gov/pubmed/17081065 PubMed 17081983 http://www.ncbi.nlm.nih.gov/pubmed/17081983 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 19349973 http://www.ncbi.nlm.nih.gov/pubmed/19349973 PubMed 19413330 http://www.ncbi.nlm.nih.gov/pubmed/19413330 PubMed 19690332 http://www.ncbi.nlm.nih.gov/pubmed/19690332 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 21406692 http://www.ncbi.nlm.nih.gov/pubmed/21406692 PubMed 22814378 http://www.ncbi.nlm.nih.gov/pubmed/22814378 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 23492904 http://www.ncbi.nlm.nih.gov/pubmed/23492904 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 8702519 http://www.ncbi.nlm.nih.gov/pubmed/8702519 Reactome R-HSA-352230 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-352230 RefSeq NP_001138616 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001138616 RefSeq NP_001138617 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001138617 RefSeq NP_005619 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_005619 STRING 9606.ENSP00000444408 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000444408&targetmode=cogs SUPFAM SSF118215 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF118215 TCDB 2.A.23.3 http://www.tcdb.org/search/result.php?tc=2.A.23.3 UCSC uc002pfr http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002pfr&org=rat UniGene Hs.631582 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.631582 UniProtKB AAAT_HUMAN http://www.uniprot.org/uniprot/AAAT_HUMAN UniProtKB-AC Q15758 http://www.uniprot.org/uniprot/Q15758 charge swissprot:AAAT_HUMAN http://rest.g-language.org/emboss/charge/swissprot:AAAT_HUMAN eggNOG COG1301 http://eggnogapi.embl.de/nog_data/html/tree/COG1301 eggNOG KOG3787 http://eggnogapi.embl.de/nog_data/html/tree/KOG3787 epestfind swissprot:AAAT_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:AAAT_HUMAN garnier swissprot:AAAT_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:AAAT_HUMAN helixturnhelix swissprot:AAAT_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:AAAT_HUMAN hmoment swissprot:AAAT_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:AAAT_HUMAN iep swissprot:AAAT_HUMAN http://rest.g-language.org/emboss/iep/swissprot:AAAT_HUMAN inforesidue swissprot:AAAT_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:AAAT_HUMAN neXtProt NX_Q15758 http://www.nextprot.org/db/entry/NX_Q15758 octanol swissprot:AAAT_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:AAAT_HUMAN pepcoil swissprot:AAAT_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:AAAT_HUMAN pepdigest swissprot:AAAT_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:AAAT_HUMAN pepinfo swissprot:AAAT_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:AAAT_HUMAN pepnet swissprot:AAAT_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:AAAT_HUMAN pepstats swissprot:AAAT_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:AAAT_HUMAN pepwheel swissprot:AAAT_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:AAAT_HUMAN pepwindow swissprot:AAAT_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:AAAT_HUMAN sigcleave swissprot:AAAT_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:AAAT_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS BASI_HUMAN Event=Alternative promoter usage, Alternative splicing; Named isoforms=4; Name=1; Synonyms=Long, Basigin-2; IsoId=P35613-1; Sequence=Displayed; Name=2; Synonyms=Basigin-1; IsoId=P35613-2; Sequence=VSP_011501; Name=3; Synonyms=Basigin-3; IsoId=P35613-3; Sequence=VSP_043225; Note=Produced by alternative promoter usage. N-glycosylated.; Name=4; Synonyms=Basigin-4; IsoId=P35613-4; Sequence=VSP_043226, VSP_043227; Note=Produced by alternative promoter usage. N-glycosylated.; # AltName BASI_HUMAN 5F7 # AltName BASI_HUMAN CD147 # AltName BASI_HUMAN Collagenase stimulatory factor # AltName BASI_HUMAN Extracellular matrix metalloproteinase inducer # AltName BASI_HUMAN Leukocyte activation antigen M6 # AltName BASI_HUMAN OK blood group antigen # AltName BASI_HUMAN Tumor cell-derived collagenase stimulatory factor # BioGrid 107147 142 # CCDS CCDS12032 -. [P35613-4] # CCDS CCDS12033 -. [P35613-1] # CCDS CCDS12034 -. [P35613-2] # CCDS CCDS58635 -. [P35613-3] # ChiTaRS BSG human # Ensembl ENST00000333511 ENSP00000333769; ENSG00000172270. [P35613-1] # Ensembl ENST00000346916 ENSP00000344707; ENSG00000172270. [P35613-4] # Ensembl ENST00000353555 ENSP00000343809; ENSG00000172270. [P35613-2] # Ensembl ENST00000545507 ENSP00000473664; ENSG00000172270. [P35613-3] # ExpressionAtlas P35613 baseline and differential # FUNCTION BASI_HUMAN Plays an important role in targeting the monocarboxylate transporters SLC16A1, SLC16A3 and SLC16A8 to the plasma membrane. Plays pivotal roles in spermatogenesis, embryo implantation, neural network formation and tumor progression. Stimulates adjacent fibroblasts to produce matrix metalloproteinases (MMPS). Seems to be a receptor for oligomannosidic glycans. In vitro, promotes outgrowth of astrocytic processes. {ECO 0000269|PubMed 17127621}. # GO_component GO:0000139 Golgi membrane; TAS:Reactome. # GO_component GO:0002080 acrosomal membrane; IEA:Ensembl. # GO_component GO:0005739 mitochondrion; IDA:UniProtKB. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0005887 integral component of plasma membrane; ISS:UniProtKB. # GO_component GO:0005913 cell-cell adherens junction; IDA:BHF-UCL. # GO_component GO:0005925 focal adhesion; IDA:UniProtKB. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0042383 sarcolemma; IEA:Ensembl. # GO_component GO:0042470 melanosome; IEA:UniProtKB-SubCell. # GO_component GO:0045121 membrane raft; IEA:Ensembl. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0005537 mannose binding; IEA:UniProtKB-KW. # GO_function GO:0008028 monocarboxylic acid transmembrane transporter activity; TAS:Reactome. # GO_function GO:0098641 cadherin binding involved in cell-cell adhesion; IDA:BHF-UCL. # GO_process GO:0006090 pyruvate metabolic process; TAS:Reactome. # GO_process GO:0007166 cell surface receptor signaling pathway; TAS:ProtInc. # GO_process GO:0007566 embryo implantation; IEA:Ensembl. # GO_process GO:0022617 extracellular matrix disassembly; TAS:Reactome. # GO_process GO:0030198 extracellular matrix organization; TAS:Reactome. # GO_process GO:0042475 odontogenesis of dentin-containing tooth; IEA:Ensembl. # GO_process GO:0043434 response to peptide hormone; IEA:Ensembl. # GO_process GO:0046689 response to mercury ion; IEA:Ensembl. # GO_process GO:0046697 decidualization; IEA:Ensembl. # GO_process GO:0050900 leukocyte migration; TAS:Reactome. # GO_process GO:0051591 response to cAMP; IEA:Ensembl. # GO_process GO:0072661 protein targeting to plasma membrane; ISS:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005739 mitochondrion # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0031410 cytoplasmic vesicle # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0002376 immune system process # GOslim_process GO:0006605 protein targeting # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0016192 vesicle-mediated transport # GOslim_process GO:0030198 extracellular matrix organization # GOslim_process GO:0044281 small molecule metabolic process # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0048870 cell motility # GOslim_process GO:0061024 membrane organization # Gene3D 2.60.40.10 -; 2. # Genevisible P35613 HS # HGNC HGNC:1116 BSG # INDUCTION BASI_HUMAN Enriched on the surface of tumor cells. Up-regulated in gliomas. Its expression levels correlate with malignant potential of the tumor. # IntAct P35613 32 # InterPro IPR003598 Ig_sub2 # InterPro IPR003599 Ig_sub # InterPro IPR007110 Ig-like_dom # InterPro IPR009151 Basigin # InterPro IPR013783 Ig-like_fold # KEGG_Brite ko04090 Cellular antigens # MIM 109480 gene # MIM 111380 phenotype # Organism BASI_HUMAN Homo sapiens (Human) # PANTHER PTHR10075:SF12 PTHR10075:SF12 # PDB 3B5H X-ray; 2.80 A; A/B/C/D=140-321 # PDB 3I84 X-ray; 2.00 A; A/B=13-219 # PDB 3I85 X-ray; 2.50 A; A/B=13-219 # PDB 3QQN X-ray; 2.31 A; A/B=23-138 # PDB 3QR2 X-ray; 2.30 A; A/B=23-138 # PDB 4U0Q X-ray; 3.10 A; B/D=1-385 # PIR A46506 A46506 # PROSITE PS50835 IG_LIKE; 3 # PTM BASI_HUMAN N-glycosylated. {ECO 0000269|PubMed 12754519, ECO 0000269|PubMed 19159218, ECO 0000269|PubMed 19349973}. # Proteomes UP000005640 Chromosome 19 # Reactome R-HSA-1474228 Degradation of the extracellular matrix # Reactome R-HSA-210991 Basigin interactions # Reactome R-HSA-216083 Integrin cell surface interactions # Reactome R-HSA-433692 Proton-coupled monocarboxylate transport # Reactome R-HSA-70268 Pyruvate metabolism # RecName BASI_HUMAN Basigin # RefSeq NP_001309172 NM_001322243.1. [P35613-2] # RefSeq NP_001719 NM_001728.3. [P35613-1] # RefSeq NP_940991 NM_198589.2. [P35613-2] # RefSeq NP_940992 NM_198590.2. [P35613-3] # RefSeq NP_940993 NM_198591.2. [P35613-4] # RefSeq XP_016882662 XM_017027173.1. [P35613-1] # SIMILARITY Contains 1 Ig-like C2-type (immunoglobulin-like) domain. {ECO 0000305}. # SIMILARITY Contains 1 Ig-like V-type (immunoglobulin-like) domain. {ECO 0000305}. # SMART SM00408 IGc2; 2 # SMART SM00409 IG; 2 # SUBCELLULAR LOCATION BASI_HUMAN Cell membrane {ECO 0000269|PubMed 15946952, ECO 0000269|PubMed 17127621, ECO 0000269|PubMed 21536654}; Single- pass type I membrane protein {ECO 0000303|PubMed 15946952}. Melanosome {ECO 0000269|PubMed 17081065}. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. In spermatozoa, localized on the principal piece of caput and in the middle piece during transit in the corpus and cauda epididymides (By similarity). {ECO 0000250|UniProtKB P18572, ECO 0000269|PubMed 17081065}. # SUBUNIT BASI_HUMAN Forms homooligomers in a cis-dependent manner on the plasma membrane. Forms heterooligomers of isoform 2 and isoform 3. Forms a complex with MMP1 at the tumor cell surface. Interacts with ATP1B2, MAG and L1CAM (By similarity). Interacts with AJAP1. Interacts with SLC16A1, SLC16A7 and SLC1A3; probably a BSG dimer is associated with a monocarboxylate transporter dimer. Interacts with PPIL2; regulates BSG transport to the cell membrane. {ECO 0000250|UniProtKB P18572, ECO 0000250|UniProtKB P26453, ECO 0000269|PubMed 15946952, ECO 0000269|PubMed 17127621, ECO 0000269|PubMed 17267690, ECO 0000269|PubMed 18430721, ECO 0000269|PubMed 19768682, ECO 0000269|PubMed 21536654}. # SUPFAM SSF48726 SSF48726; 3 # TCDB 8.A.23.1 the basigin (basigin) family # TISSUE SPECIFICITY BASI_HUMAN Present only in vascular endothelium in non- neoplastic regions of the brain, whereas it is present in tumor cells but not in proliferating blood vessels in malignant gliomas. # TopDownProteomics P35613-1 -. [P35613-1] # TopDownProteomics P35613-2 -. [P35613-2] # TopDownProteomics P35613-3 -. [P35613-3] # UCSC uc002loy human. [P35613-1] # WEB RESOURCE BASI_HUMAN Name=SeattleSNPs; URL="http //pga.gs.washington.edu/data/bsg/"; # WEB RESOURCE BASI_HUMAN Name=dbRBC/BGMUT; Note=Blood group antigen gene mutation database; URL="https //www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/systems_info&system=ok"; # eggNOG ENOG410IJET Eukaryota # eggNOG ENOG4111V1Q LUCA BLAST swissprot:BASI_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:BASI_HUMAN BioCyc ZFISH:ENSG00000172270-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000172270-MONOMER COXPRESdb 682 http://coxpresdb.jp/data/gene/682.shtml CleanEx HS_BSG http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_BSG DIP DIP-50310N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-50310N DOI 10.1002/eji.1830270414 http://dx.doi.org/10.1002/eji.1830270414 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1002/prot.22577 http://dx.doi.org/10.1002/prot.22577 DOI 10.1016/0003-9861(91)90332-D http://dx.doi.org/10.1016/0003-9861(91)90332-D DOI 10.1016/S0378-1119(98)00400-4 http://dx.doi.org/10.1016/S0378-1119(98)00400-4 DOI 10.1016/j.cell.2006.09.026 http://dx.doi.org/10.1016/j.cell.2006.09.026 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/ac9004309 http://dx.doi.org/10.1021/ac9004309 DOI 10.1021/pr060363j http://dx.doi.org/10.1021/pr060363j DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1021/pr8008012 http://dx.doi.org/10.1021/pr8008012 DOI 10.1038/nature02399 http://dx.doi.org/10.1038/nature02399 DOI 10.1038/nbt.1532 http://dx.doi.org/10.1038/nbt.1532 DOI 10.1038/nbt827 http://dx.doi.org/10.1038/nbt827 DOI 10.1074/jbc.M503770200 http://dx.doi.org/10.1074/jbc.M503770200 DOI 10.1074/jbc.M802694200 http://dx.doi.org/10.1074/jbc.M802694200 DOI 10.1080/09687860600841967 http://dx.doi.org/10.1080/09687860600841967 DOI 10.1091/mbc.E06-07-0637 http://dx.doi.org/10.1091/mbc.E06-07-0637 DOI 10.1101/gr.1293003 http://dx.doi.org/10.1101/gr.1293003 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1110/ps.04682504 http://dx.doi.org/10.1110/ps.04682504 DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 DOI 10.1126/scisignal.2001570 http://dx.doi.org/10.1126/scisignal.2001570 DOI 10.1128/MCB.05160-11 http://dx.doi.org/10.1128/MCB.05160-11 DOI 10.1167/iovs.02-0995 http://dx.doi.org/10.1167/iovs.02-0995 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AB072923 http://www.ebi.ac.uk/ena/data/view/AB072923 EMBL AB085790 http://www.ebi.ac.uk/ena/data/view/AB085790 EMBL AC005559 http://www.ebi.ac.uk/ena/data/view/AC005559 EMBL AF042848 http://www.ebi.ac.uk/ena/data/view/AF042848 EMBL AF042849 http://www.ebi.ac.uk/ena/data/view/AF042849 EMBL AF042850 http://www.ebi.ac.uk/ena/data/view/AF042850 EMBL AF042851 http://www.ebi.ac.uk/ena/data/view/AF042851 EMBL AF042852 http://www.ebi.ac.uk/ena/data/view/AF042852 EMBL AF042853 http://www.ebi.ac.uk/ena/data/view/AF042853 EMBL AF042854 http://www.ebi.ac.uk/ena/data/view/AF042854 EMBL AF548371 http://www.ebi.ac.uk/ena/data/view/AF548371 EMBL AY358113 http://www.ebi.ac.uk/ena/data/view/AY358113 EMBL AY942196 http://www.ebi.ac.uk/ena/data/view/AY942196 EMBL BC009040 http://www.ebi.ac.uk/ena/data/view/BC009040 EMBL CH471242 http://www.ebi.ac.uk/ena/data/view/CH471242 EMBL CH471242 http://www.ebi.ac.uk/ena/data/view/CH471242 EMBL D45131 http://www.ebi.ac.uk/ena/data/view/D45131 EMBL GU557064 http://www.ebi.ac.uk/ena/data/view/GU557064 EMBL GU557065 http://www.ebi.ac.uk/ena/data/view/GU557065 EMBL L10240 http://www.ebi.ac.uk/ena/data/view/L10240 EMBL L20471 http://www.ebi.ac.uk/ena/data/view/L20471 EMBL M87879 http://www.ebi.ac.uk/ena/data/view/M87879 EMBL X64364 http://www.ebi.ac.uk/ena/data/view/X64364 Ensembl ENST00000333511 http://www.ensembl.org/id/ENST00000333511 Ensembl ENST00000346916 http://www.ensembl.org/id/ENST00000346916 Ensembl ENST00000353555 http://www.ensembl.org/id/ENST00000353555 Ensembl ENST00000545507 http://www.ensembl.org/id/ENST00000545507 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000139 GO_component GO:0002080 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002080 GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0005913 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005913 GO_component GO:0005925 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005925 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0042383 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042383 GO_component GO:0042470 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042470 GO_component GO:0045121 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045121 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0005537 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005537 GO_function GO:0008028 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008028 GO_function GO:0098641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0098641 GO_process GO:0006090 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006090 GO_process GO:0007166 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007166 GO_process GO:0007566 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007566 GO_process GO:0022617 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022617 GO_process GO:0030198 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030198 GO_process GO:0042475 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042475 GO_process GO:0043434 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043434 GO_process GO:0046689 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046689 GO_process GO:0046697 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046697 GO_process GO:0050900 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050900 GO_process GO:0051591 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051591 GO_process GO:0072661 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0072661 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0031410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0002376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002376 GOslim_process GO:0006605 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006605 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0016192 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016192 GOslim_process GO:0030198 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030198 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0048870 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048870 GOslim_process GO:0061024 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061024 Gene3D 2.60.40.10 http://www.cathdb.info/version/latest/superfamily/2.60.40.10 GeneCards BSG http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=BSG GeneID 682 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=682 GeneTree ENSGT00390000010516 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000010516 HGNC HGNC:1116 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:1116 HOGENOM HOG000263411 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000263411&db=HOGENOM6 HOVERGEN HBG008120 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG008120&db=HOVERGEN HPA CAB002427 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB002427 HPA HPA036048 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA036048 InParanoid P35613 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P35613 IntAct P35613 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P35613* InterPro IPR003598 http://www.ebi.ac.uk/interpro/entry/IPR003598 InterPro IPR003599 http://www.ebi.ac.uk/interpro/entry/IPR003599 InterPro IPR007110 http://www.ebi.ac.uk/interpro/entry/IPR007110 InterPro IPR009151 http://www.ebi.ac.uk/interpro/entry/IPR009151 InterPro IPR013783 http://www.ebi.ac.uk/interpro/entry/IPR013783 Jabion 682 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=682 KEGG_Brite ko04090 http://www.genome.jp/dbget-bin/www_bget?ko04090 KEGG_Gene hsa:682 http://www.genome.jp/dbget-bin/www_bget?hsa:682 KEGG_Orthology KO:K06535 http://www.genome.jp/dbget-bin/www_bget?KO:K06535 MIM 109480 http://www.ncbi.nlm.nih.gov/omim/109480 MIM 111380 http://www.ncbi.nlm.nih.gov/omim/111380 MINT MINT-5004205 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-5004205 OMA QANVFVI http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=QANVFVI OrthoDB EOG091G07LY http://cegg.unige.ch/orthodb/results?searchtext=EOG091G07LY PANTHER PTHR10075:SF12 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10075:SF12 PDB 3B5H http://www.ebi.ac.uk/pdbe-srv/view/entry/3B5H PDB 3I84 http://www.ebi.ac.uk/pdbe-srv/view/entry/3I84 PDB 3I85 http://www.ebi.ac.uk/pdbe-srv/view/entry/3I85 PDB 3QQN http://www.ebi.ac.uk/pdbe-srv/view/entry/3QQN PDB 3QR2 http://www.ebi.ac.uk/pdbe-srv/view/entry/3QR2 PDB 4U0Q http://www.ebi.ac.uk/pdbe-srv/view/entry/4U0Q PDBsum 3B5H http://www.ebi.ac.uk/pdbsum/3B5H PDBsum 3I84 http://www.ebi.ac.uk/pdbsum/3I84 PDBsum 3I85 http://www.ebi.ac.uk/pdbsum/3I85 PDBsum 3QQN http://www.ebi.ac.uk/pdbsum/3QQN PDBsum 3QR2 http://www.ebi.ac.uk/pdbsum/3QR2 PDBsum 4U0Q http://www.ebi.ac.uk/pdbsum/4U0Q PROSITE PS50835 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50835 PSORT swissprot:BASI_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:BASI_HUMAN PSORT-B swissprot:BASI_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:BASI_HUMAN PSORT2 swissprot:BASI_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:BASI_HUMAN PharmGKB PA25433 http://www.pharmgkb.org/do/serve?objId=PA25433&objCls=Gene Phobius swissprot:BASI_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:BASI_HUMAN PhylomeDB P35613 http://phylomedb.org/?seqid=P35613 ProteinModelPortal P35613 http://www.proteinmodelportal.org/query/uniprot/P35613 PubMed 12754519 http://www.ncbi.nlm.nih.gov/pubmed/12754519 PubMed 12792908 http://www.ncbi.nlm.nih.gov/pubmed/12792908 PubMed 12939332 http://www.ncbi.nlm.nih.gov/pubmed/12939332 PubMed 12975309 http://www.ncbi.nlm.nih.gov/pubmed/12975309 PubMed 15057824 http://www.ncbi.nlm.nih.gov/pubmed/15057824 PubMed 15340161 http://www.ncbi.nlm.nih.gov/pubmed/15340161 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15946952 http://www.ncbi.nlm.nih.gov/pubmed/15946952 PubMed 1634773 http://www.ncbi.nlm.nih.gov/pubmed/1634773 PubMed 17081065 http://www.ncbi.nlm.nih.gov/pubmed/17081065 PubMed 17081983 http://www.ncbi.nlm.nih.gov/pubmed/17081983 PubMed 17127621 http://www.ncbi.nlm.nih.gov/pubmed/17127621 PubMed 17267690 http://www.ncbi.nlm.nih.gov/pubmed/17267690 PubMed 1783610 http://www.ncbi.nlm.nih.gov/pubmed/1783610 PubMed 18430721 http://www.ncbi.nlm.nih.gov/pubmed/18430721 PubMed 1846736 http://www.ncbi.nlm.nih.gov/pubmed/1846736 PubMed 19159218 http://www.ncbi.nlm.nih.gov/pubmed/19159218 PubMed 19349973 http://www.ncbi.nlm.nih.gov/pubmed/19349973 PubMed 19413330 http://www.ncbi.nlm.nih.gov/pubmed/19413330 PubMed 19768682 http://www.ncbi.nlm.nih.gov/pubmed/19768682 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 21406692 http://www.ncbi.nlm.nih.gov/pubmed/21406692 PubMed 21536654 http://www.ncbi.nlm.nih.gov/pubmed/21536654 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 7812975 http://www.ncbi.nlm.nih.gov/pubmed/7812975 PubMed 9130641 http://www.ncbi.nlm.nih.gov/pubmed/9130641 PubMed 9767135 http://www.ncbi.nlm.nih.gov/pubmed/9767135 Reactome R-HSA-1474228 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1474228 Reactome R-HSA-210991 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-210991 Reactome R-HSA-216083 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-216083 Reactome R-HSA-433692 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-433692 Reactome R-HSA-70268 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-70268 RefSeq NP_001309172 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001309172 RefSeq NP_001719 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001719 RefSeq NP_940991 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_940991 RefSeq NP_940992 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_940992 RefSeq NP_940993 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_940993 RefSeq XP_016882662 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016882662 SMART SM00408 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00408 SMART SM00409 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00409 SMR P35613 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P35613 STRING 9606.ENSP00000333769 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000333769&targetmode=cogs SUPFAM SSF48726 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48726 TCDB 8.A.23.1 http://www.tcdb.org/search/result.php?tc=8.A.23.1 UCSC uc002loy http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002loy&org=rat UniGene Hs.501293 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.501293 UniProtKB BASI_HUMAN http://www.uniprot.org/uniprot/BASI_HUMAN UniProtKB-AC P35613 http://www.uniprot.org/uniprot/P35613 charge swissprot:BASI_HUMAN http://rest.g-language.org/emboss/charge/swissprot:BASI_HUMAN eggNOG ENOG410IJET http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IJET eggNOG ENOG4111V1Q http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111V1Q epestfind swissprot:BASI_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:BASI_HUMAN garnier swissprot:BASI_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:BASI_HUMAN helixturnhelix swissprot:BASI_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:BASI_HUMAN hmoment swissprot:BASI_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:BASI_HUMAN iep swissprot:BASI_HUMAN http://rest.g-language.org/emboss/iep/swissprot:BASI_HUMAN inforesidue swissprot:BASI_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:BASI_HUMAN neXtProt NX_P35613 http://www.nextprot.org/db/entry/NX_P35613 octanol swissprot:BASI_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:BASI_HUMAN pepcoil swissprot:BASI_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:BASI_HUMAN pepdigest swissprot:BASI_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:BASI_HUMAN pepinfo swissprot:BASI_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:BASI_HUMAN pepnet swissprot:BASI_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:BASI_HUMAN pepstats swissprot:BASI_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:BASI_HUMAN pepwheel swissprot:BASI_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:BASI_HUMAN pepwindow swissprot:BASI_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:BASI_HUMAN sigcleave swissprot:BASI_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:BASI_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS FAK2_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q14289-1; Sequence=Displayed; Name=2; Synonyms=PYK2H; IsoId=Q14289-2; Sequence=VSP_004981; # AltName FAK2_HUMAN Calcium-dependent tyrosine kinase # AltName FAK2_HUMAN Calcium-regulated non-receptor proline-rich tyrosine kinase # AltName FAK2_HUMAN Cell adhesion kinase beta # AltName FAK2_HUMAN Focal adhesion kinase 2 # AltName FAK2_HUMAN Proline-rich tyrosine kinase 2 # AltName FAK2_HUMAN Related adhesion focal tyrosine kinase # BRENDA 2.7.10 2681 # BioGrid 108480 60 # CATALYTIC ACTIVITY FAK2_HUMAN ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate. {ECO 0000255|PROSITE- ProRule PRU10028, ECO 0000269|PubMed 15050747, ECO 0000269|PubMed 15166227, ECO 0000269|PubMed 18339875, ECO 0000269|PubMed 18951788, ECO 0000269|PubMed 19428251, ECO 0000269|PubMed 19648005}. # CCDS CCDS6057 -. [Q14289-1] # CCDS CCDS6058 -. [Q14289-2] # ChiTaRS PTK2B human # DISEASE FAK2_HUMAN Note=Aberrant PTK2B/PYK2 expression may play a role in cancer cell proliferation, migration and invasion, in tumor formation and metastasis. Elevated PTK2B/PYK2 expression is seen in gliomas, hepatocellular carcinoma, lung cancer and breast cancer. # DrugBank DB01097 Leflunomide # ENZYME REGULATION FAK2_HUMAN Activated in response to stimuli that lead to increased intracellular Ca(2+) levels; this activation is indirect and may be mediated by calcium-mediated production of reactive oxygen species (ROS). Activated by autophosphorylation at Tyr-402; this creates a binding site for SRC family kinases and leads to phosphorylation at additional tyrosine residues. Phosphorylation at Tyr-402, Tyr-579 and Tyr-580 is required for optimal kinase activity. Inhibited by PF-562,271, BIRB796, PF-4618433 and by PF- 431396, PF-2318841 and their derivatives. Inhibited by sulfoximine-substituted trifluoromethylpyrimidines. Inhibited by 4-amino and 5-aryl substituted pyridinone compounds. {ECO 0000269|PubMed 18339875, ECO 0000269|PubMed 18951788, ECO 0000269|PubMed 19428251, ECO 0000269|PubMed 19648005}. # Ensembl ENST00000346049 ENSP00000332816; ENSG00000120899. [Q14289-1] # Ensembl ENST00000397501 ENSP00000380638; ENSG00000120899. [Q14289-1] # Ensembl ENST00000420218 ENSP00000391995; ENSG00000120899. [Q14289-2] # Ensembl ENST00000517339 ENSP00000427931; ENSG00000120899. [Q14289-2] # ExpressionAtlas Q14289 baseline and differential # FUNCTION FAK2_HUMAN Non-receptor protein-tyrosine kinase that regulates reorganization of the actin cytoskeleton, cell polarization, cell migration, adhesion, spreading and bone remodeling. Plays a role in the regulation of the humoral immune response, and is required for normal levels of marginal B-cells in the spleen and normal migration of splenic B-cells. Required for normal macrophage polarization and migration towards sites of inflammation. Regulates cytoskeleton rearrangement and cell spreading in T- cells, and contributes to the regulation of T-cell responses. Promotes osteoclastic bone resorption; this requires both PTK2B/PYK2 and SRC. May inhibit differentiation and activity of osteoprogenitor cells. Functions in signaling downstream of integrin and collagen receptors, immune receptors, G-protein coupled receptors (GPCR), cytokine, chemokine and growth factor receptors, and mediates responses to cellular stress. Forms multisubunit signaling complexes with SRC and SRC family members upon activation; this leads to the phosphorylation of additional tyrosine residues, creating binding sites for scaffold proteins, effectors and substrates. Regulates numerous signaling pathways. Promotes activation of phosphatidylinositol 3-kinase and of the AKT1 signaling cascade. Promotes activation of NOS3. Regulates production of the cellular messenger cGMP. Promotes activation of the MAP kinase signaling cascade, including activation of MAPK1/ERK2, MAPK3/ERK1 and MAPK8/JNK1. Promotes activation of Rho family GTPases, such as RHOA and RAC1. Recruits the ubiquitin ligase MDM2 to P53/TP53 in the nucleus, and thereby regulates P53/TP53 activity, P53/TP53 ubiquitination and proteasomal degradation. Acts as a scaffold, binding to both PDPK1 and SRC, thereby allowing SRC to phosphorylate PDPK1 at 'Tyr-9, 'Tyr-373', and 'Tyr-376'. Promotes phosphorylation of NMDA receptors by SRC family members, and thereby contributes to the regulation of NMDA receptor ion channel activity and intracellular Ca(2+) levels. May also regulate potassium ion transport by phosphorylation of potassium channel subunits. Phosphorylates SRC; this increases SRC kinase activity. Phosphorylates ASAP1, NPHP1, KCNA2 and SHC1. Promotes phosphorylation of ASAP2, RHOU and PXN; this requires both SRC and PTK2/PYK2. {ECO 0000269|PubMed 10022920, ECO 0000269|PubMed 12771146, ECO 0000269|PubMed 12893833, ECO 0000269|PubMed 14585963, ECO 0000269|PubMed 15050747, ECO 0000269|PubMed 15166227, ECO 0000269|PubMed 17634955, ECO 0000269|PubMed 18086875, ECO 0000269|PubMed 18339875, ECO 0000269|PubMed 18587400, ECO 0000269|PubMed 18765415, ECO 0000269|PubMed 19086031, ECO 0000269|PubMed 19207108, ECO 0000269|PubMed 19244237, ECO 0000269|PubMed 19428251, ECO 0000269|PubMed 19648005, ECO 0000269|PubMed 19880522, ECO 0000269|PubMed 20001213, ECO 0000269|PubMed 20381867, ECO 0000269|PubMed 20521079, ECO 0000269|PubMed 21357692, ECO 0000269|PubMed 21533080, ECO 0000269|PubMed 7544443, ECO 0000269|PubMed 8670418, ECO 0000269|PubMed 8849729}. # GO_component GO:0005634 nucleus; IDA:UniProtKB. # GO_component GO:0005654 nucleoplasm; IDA:HPA. # GO_component GO:0005737 cytoplasm; IDA:HPA. # GO_component GO:0005829 cytosol; TAS:Reactome. # GO_component GO:0005856 cytoskeleton; IEA:InterPro. # GO_component GO:0005925 focal adhesion; IDA:UniProtKB. # GO_component GO:0005938 cell cortex; IEA:UniProtKB-SubCell. # GO_component GO:0014069 postsynaptic density; ISS:Alzheimers_University_of_Toronto. # GO_component GO:0017146 NMDA selective glutamate receptor complex; ISS:Alzheimers_University_of_Toronto. # GO_component GO:0030027 lamellipodium; IDA:UniProtKB. # GO_component GO:0030424 axon; IEA:Ensembl. # GO_component GO:0030425 dendrite; ISS:Alzheimers_University_of_Toronto. # GO_component GO:0030426 growth cone; ISS:Alzheimers_University_of_Toronto. # GO_component GO:0031234 extrinsic component of cytoplasmic side of plasma membrane; IBA:GO_Central. # GO_component GO:0043025 neuronal cell body; ISS:Alzheimers_University_of_Toronto. # GO_component GO:0044297 cell body; ISS:Alzheimers_University_of_Toronto. # GO_component GO:0045121 membrane raft; IEA:Ensembl. # GO_component GO:0048471 perinuclear region of cytoplasm; IDA:UniProtKB. # GO_component GO:0097440 apical dendrite; ISS:Alzheimers_University_of_Toronto. # GO_function GO:0004683 calmodulin-dependent protein kinase activity; ISS:Alzheimers_University_of_Toronto. # GO_function GO:0004713 protein tyrosine kinase activity; TAS:ProtInc. # GO_function GO:0004715 non-membrane spanning protein tyrosine kinase activity; IDA:UniProtKB. # GO_function GO:0004871 signal transducer activity; NAS:ProtInc. # GO_function GO:0004972 NMDA glutamate receptor activity; IEA:Ensembl. # GO_function GO:0005102 receptor binding; IBA:GO_Central. # GO_function GO:0005524 ATP binding; IEA:UniProtKB-KW. # GO_process GO:0000165 MAPK cascade; IEA:Ensembl. # GO_process GO:0001525 angiogenesis; IBA:GO_Central. # GO_process GO:0001556 oocyte maturation; IEA:Ensembl. # GO_process GO:0001666 response to hypoxia; IEA:Ensembl. # GO_process GO:0001954 positive regulation of cell-matrix adhesion; IMP:UniProtKB. # GO_process GO:0002040 sprouting angiogenesis; ISS:UniProtKB. # GO_process GO:0002250 adaptive immune response; IEA:UniProtKB-KW. # GO_process GO:0002315 marginal zone B cell differentiation; ISS:UniProtKB. # GO_process GO:0006461 protein complex assembly; TAS:ProtInc. # GO_process GO:0006468 protein phosphorylation; TAS:ProtInc. # GO_process GO:0006915 apoptotic process; TAS:ProtInc. # GO_process GO:0006950 response to stress; TAS:ProtInc. # GO_process GO:0006968 cellular defense response; ISS:Alzheimers_University_of_Toronto. # GO_process GO:0006970 response to osmotic stress; IEA:Ensembl. # GO_process GO:0007165 signal transduction; TAS:ProtInc. # GO_process GO:0007166 cell surface receptor signaling pathway; IMP:UniProtKB. # GO_process GO:0007172 signal complex assembly; TAS:ProtInc. # GO_process GO:0007173 epidermal growth factor receptor signaling pathway; IBA:GO_Central. # GO_process GO:0007204 positive regulation of cytosolic calcium ion concentration; IEA:Ensembl. # GO_process GO:0007229 integrin-mediated signaling pathway; IMP:UniProtKB. # GO_process GO:0008284 positive regulation of cell proliferation; IMP:UniProtKB. # GO_process GO:0008285 negative regulation of cell proliferation; IMP:UniProtKB. # GO_process GO:0008360 regulation of cell shape; IMP:UniProtKB. # GO_process GO:0009612 response to mechanical stimulus; IEA:Ensembl. # GO_process GO:0009725 response to hormone; IEA:Ensembl. # GO_process GO:0009749 response to glucose; IEA:Ensembl. # GO_process GO:0010226 response to lithium ion; IEA:Ensembl. # GO_process GO:0010595 positive regulation of endothelial cell migration; IDA:BHF-UCL. # GO_process GO:0010656 negative regulation of muscle cell apoptotic process; IEA:Ensembl. # GO_process GO:0010752 regulation of cGMP-mediated signaling; IEA:Ensembl. # GO_process GO:0010758 regulation of macrophage chemotaxis; ISS:UniProtKB. # GO_process GO:0010976 positive regulation of neuron projection development; IMP:BHF-UCL. # GO_process GO:0014009 glial cell proliferation; IEA:Ensembl. # GO_process GO:0018108 peptidyl-tyrosine phosphorylation; IDA:UniProtKB. # GO_process GO:0030155 regulation of cell adhesion; IMP:UniProtKB. # GO_process GO:0030307 positive regulation of cell growth; IEA:Ensembl. # GO_process GO:0030335 positive regulation of cell migration; IMP:UniProtKB. # GO_process GO:0030502 negative regulation of bone mineralization; ISS:UniProtKB. # GO_process GO:0030826 regulation of cGMP biosynthetic process; IEA:Ensembl. # GO_process GO:0030838 positive regulation of actin filament polymerization; IMP:UniProtKB. # GO_process GO:0031175 neuron projection development; IEA:Ensembl. # GO_process GO:0032960 regulation of inositol trisphosphate biosynthetic process; ISS:UniProtKB. # GO_process GO:0033209 tumor necrosis factor-mediated signaling pathway; IMP:UniProtKB. # GO_process GO:0035235 ionotropic glutamate receptor signaling pathway; ISS:Alzheimers_University_of_Toronto. # GO_process GO:0035902 response to immobilization stress; IEA:Ensembl. # GO_process GO:0038083 peptidyl-tyrosine autophosphorylation; IDA:BHF-UCL. # GO_process GO:0042220 response to cocaine; IEA:Ensembl. # GO_process GO:0042493 response to drug; IEA:Ensembl. # GO_process GO:0042542 response to hydrogen peroxide; IEA:Ensembl. # GO_process GO:0042976 activation of Janus kinase activity; IMP:UniProtKB. # GO_process GO:0043066 negative regulation of apoptotic process; IMP:UniProtKB. # GO_process GO:0043149 stress fiber assembly; IEA:Ensembl. # GO_process GO:0043267 negative regulation of potassium ion transport; IDA:UniProtKB. # GO_process GO:0043507 positive regulation of JUN kinase activity; IEA:Ensembl. # GO_process GO:0043524 negative regulation of neuron apoptotic process; ISS:Alzheimers_University_of_Toronto. # GO_process GO:0043534 blood vessel endothelial cell migration; IEA:Ensembl. # GO_process GO:0043552 positive regulation of phosphatidylinositol 3-kinase activity; ISS:UniProtKB. # GO_process GO:0045087 innate immune response; IBA:GO_Central. # GO_process GO:0045429 positive regulation of nitric oxide biosynthetic process; IEA:Ensembl. # GO_process GO:0045453 bone resorption; ISS:UniProtKB. # GO_process GO:0045471 response to ethanol; IEA:Ensembl. # GO_process GO:0045638 negative regulation of myeloid cell differentiation; IMP:UniProtKB. # GO_process GO:0045727 positive regulation of translation; IEA:Ensembl. # GO_process GO:0045766 positive regulation of angiogenesis; IEA:Ensembl. # GO_process GO:0045860 positive regulation of protein kinase activity; IMP:UniProtKB. # GO_process GO:0046330 positive regulation of JNK cascade; IMP:UniProtKB. # GO_process GO:0046777 protein autophosphorylation; TAS:UniProtKB. # GO_process GO:0048010 vascular endothelial growth factor receptor signaling pathway; IMP:BHF-UCL. # GO_process GO:0048041 focal adhesion assembly; IEA:Ensembl. # GO_process GO:0050731 positive regulation of peptidyl-tyrosine phosphorylation; IDA:BHF-UCL. # GO_process GO:0050848 regulation of calcium-mediated signaling; IEA:Ensembl. # GO_process GO:0051000 positive regulation of nitric-oxide synthase activity; IEA:Ensembl. # GO_process GO:0051279 regulation of release of sequestered calcium ion into cytosol; ISS:UniProtKB. # GO_process GO:0051591 response to cAMP; IEA:Ensembl. # GO_process GO:0051592 response to calcium ion; IEA:Ensembl. # GO_process GO:0051968 positive regulation of synaptic transmission, glutamatergic; ISS:Alzheimers_University_of_Toronto. # GO_process GO:0060291 long-term synaptic potentiation; ISS:Alzheimers_University_of_Toronto. # GO_process GO:0060292 long term synaptic depression; IEA:Ensembl. # GO_process GO:0070098 chemokine-mediated signaling pathway; ISS:UniProtKB. # GO_process GO:0070374 positive regulation of ERK1 and ERK2 cascade; IMP:UniProtKB. # GO_process GO:0071300 cellular response to retinoic acid; IMP:BHF-UCL. # GO_process GO:0071498 cellular response to fluid shear stress; IEA:Ensembl. # GO_process GO:0090630 activation of GTPase activity; IEA:Ensembl. # GO_process GO:2000058 regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process; IDA:UniProtKB. # GO_process GO:2000060 positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process; IEA:Ensembl. # GO_process GO:2000114 regulation of establishment of cell polarity; ISS:UniProtKB. # GO_process GO:2000249 regulation of actin cytoskeleton reorganization; ISS:UniProtKB. # GO_process GO:2000310 regulation of N-methyl-D-aspartate selective glutamate receptor activity; ISS:Alzheimers_University_of_Toronto. # GO_process GO:2000463 positive regulation of excitatory postsynaptic potential; ISS:Alzheimers_University_of_Toronto. # GO_process GO:2000538 positive regulation of B cell chemotaxis; ISS:UniProtKB. # GO_process GO:2000573 positive regulation of DNA biosynthetic process; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005654 nucleoplasm # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005829 cytosol # GOslim_component GO:0005856 cytoskeleton # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0016301 kinase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0002376 immune system process # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006464 cellular protein modification process # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007010 cytoskeleton organization # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0008219 cell death # GOslim_process GO:0008283 cell proliferation # GOslim_process GO:0021700 developmental maturation # GOslim_process GO:0022607 cellular component assembly # GOslim_process GO:0030154 cell differentiation # GOslim_process GO:0034330 cell junction organization # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0048646 anatomical structure formation involved in morphogenesis # GOslim_process GO:0048870 cell motility # Gene3D 1.20.80.10 -; 1. # Genevisible Q14289 HS # HGNC HGNC:9612 PTK2B # INTERACTION FAK2_HUMAN O75161 NPHP4; NbExp=2; IntAct=EBI-298640, EBI-4281852; Q7L0Q8 RHOU; NbExp=4; IntAct=EBI-298640, EBI-1638043; P12931 SRC; NbExp=3; IntAct=EBI-298640, EBI-621482; # IntAct Q14289 15 # InterPro IPR000299 FERM_domain # InterPro IPR000719 Prot_kinase_dom # InterPro IPR001245 Ser-Thr/Tyr_kinase_cat_dom # InterPro IPR005189 Focal_adhesion_kin_target_dom # InterPro IPR008266 Tyr_kinase_AS # InterPro IPR011009 Kinase-like_dom # InterPro IPR011993 PH_dom-like # InterPro IPR014352 FERM/acyl-CoA-bd_prot_3-hlx # InterPro IPR017441 Protein_kinase_ATP_BS # InterPro IPR019748 FERM_central # InterPro IPR019749 Band_41_domain # InterPro IPR020635 Tyr_kinase_cat_dom # InterPro IPR029071 Ubiquitin-rel_dom # InterPro IPR030610 PTK2B # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko01000 Enzymes # KEGG_Brite ko01001 Protein kinases # KEGG_Pathway ko04020 Calcium signaling pathway # KEGG_Pathway ko04062 Chemokine signaling pathway # KEGG_Pathway ko04650 Natural killer cell mediated cytotoxicity # KEGG_Pathway ko04670 Leukocyte transendothelial migration # KEGG_Pathway ko04912 GnRH signaling pathway # KEGG_Pathway ko05161 Hepatitis B # MIM 601212 gene # MISCELLANEOUS FAK2_HUMAN Promotes bone resorption, and thus PTK2B/PYK2 inhibitors might be used to treat osteoporosis. # Organism FAK2_HUMAN Homo sapiens (Human) # PANTHER PTHR24418:SF94 PTHR24418:SF94 # PDB 2FO6 Model; -; X=45-350 # PDB 2LK4 NMR; -; A=871-1005 # PDB 3CC6 X-ray; 1.60 A; A=414-692 # PDB 3ET7 X-ray; 2.70 A; A=416-692 # PDB 3FZO X-ray; 2.20 A; A=416-692 # PDB 3FZP X-ray; 2.10 A; A=416-692 # PDB 3FZR X-ray; 2.70 A; A=416-692 # PDB 3FZS X-ray; 1.75 A; A=416-692 # PDB 3FZT X-ray; 1.95 A; A=416-692 # PDB 3GM1 X-ray; 2.95 A; A/B=861-1009 # PDB 3GM2 X-ray; 2.71 A; A=861-1009 # PDB 3GM3 X-ray; 2.60 A; A=861-1009 # PDB 3H3C X-ray; 2.00 A; A=416-692 # PDB 3U3F X-ray; 3.10 A; A/B/C/D=871-1005 # PDB 4EKU X-ray; 3.25 A; A=21-409 # PDB 4H1J X-ray; 2.00 A; A=416-692 # PDB 4H1M X-ray; 1.99 A; A=416-692 # PDB 4R32 X-ray; 3.50 A; A=871-1005 # PDB 4XEF X-ray; 2.50 A; A/D=871-1005 # PDB 4XEK X-ray; 1.79 A; A=871-1005 # PDB 4XEV X-ray; 2.01 A; A/D=871-1005 # PIR S60248 S60248 # PRINTS PR00109 TYRKINASE # PROSITE PS00107 PROTEIN_KINASE_ATP # PROSITE PS00109 PROTEIN_KINASE_TYR # PROSITE PS50011 PROTEIN_KINASE_DOM # PROSITE PS50057 FERM_3 # PTM FAK2_HUMAN Phosphorylated on tyrosine residues in response to various stimuli that elevate the intracellular calcium concentration; this activation is indirect and may be mediated by production of reactive oxygen species (ROS). Tyr-402 is the major autophosphorylation site, but other kinases can also phosphorylate Tyr-402. Autophosphorylation occurs in trans, i.e. one subunit of the dimeric receptor phosphorylates tyrosine residues on the other subunit. Phosphorylation at Tyr-402 promotes interaction with SRC and SRC family members, leading to phosphorylation at Tyr-579; Tyr-580 and Tyr-881. Phosphorylation at Tyr-881 is important for interaction with GRB2. Phosphorylated on tyrosine residues upon activation of FGR and PKC. Recruitment by NPHP1 to cell matrix adhesions initiates Tyr-402 phosphorylation. In monocytes, adherence to substrata is required for tyrosine phosphorylation and kinase activation. Angiotensin II, thapsigargin and L-alpha- lysophosphatidic acid (LPA) also induce autophosphorylation and increase kinase activity. Phosphorylation by MYLK promotes ITGB2 activation and is thus essential to trigger neutrophil transmigration during lung injury. Dephosphorylated by PTPN12. {ECO 0000269|PubMed 11493697, ECO 0000269|PubMed 15166227, ECO 0000269|PubMed 17329398, ECO 0000269|PubMed 18587400, ECO 0000269|PubMed 19207108, ECO 0000269|PubMed 20028775, ECO 0000269|PubMed 20381867, ECO 0000269|PubMed 20521079, ECO 0000269|PubMed 9545257}. # Pfam PF00373 FERM_M # Pfam PF03623 Focal_AT # Pfam PF07714 Pkinase_Tyr # ProDom PD006413 Focal_adhesion_target_reg # Proteomes UP000005640 Chromosome 8 # Reactome R-HSA-391160 Signal regulatory protein (SIRP) family interactions # Reactome R-HSA-4420097 VEGFA-VEGFR2 Pathway # Reactome R-HSA-451927 Interleukin-2 signaling # RecName FAK2_HUMAN Protein-tyrosine kinase 2-beta # RefSeq NP_004094 NM_004103.4. [Q14289-1] # RefSeq NP_775266 NM_173174.2. [Q14289-1] # RefSeq NP_775267 NM_173175.2. [Q14289-2] # RefSeq NP_775268 NM_173176.2. [Q14289-1] # RefSeq XP_005273504 XM_005273447.4. [Q14289-1] # RefSeq XP_011542743 XM_011544441.2. [Q14289-1] # RefSeq XP_016868703 XM_017013214.1. [Q14289-1] # SIMILARITY Belongs to the protein kinase superfamily. Tyr protein kinase family. FAK subfamily. {ECO:0000255|PROSITE- ProRule PRU00159}. # SIMILARITY Contains 1 FERM domain. {ECO:0000255|PROSITE- ProRule PRU00084}. # SIMILARITY Contains 1 protein kinase domain. {ECO:0000255|PROSITE-ProRule PRU00159}. # SMART SM00219 TyrKc # SMART SM00295 B41 # SUBCELLULAR LOCATION FAK2_HUMAN Cytoplasm. Cytoplasm, perinuclear region. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cell junction, focal adhesion. Cell projection, lamellipodium. Cytoplasm, cell cortex. Nucleus. Note=Interaction with NPHP1 induces the membrane-association of the kinase. Colocalizes with integrins at the cell periphery. # SUBUNIT FAK2_HUMAN Homodimer, or homooligomer. Interacts with SIRPA and SH2D3C. Interacts with ARHGAP10. Interacts with DLG4 (By similarity). Interacts with KCNA2 (By similarity). Interacts with NPHP1, ASAP1, ASAP2, ARHGAP26, SKAP2 and TGFB1I1. The Tyr-402 phosphorylated form interacts with SRC (via SH2 domain) and SRC family members. Forms a signaling complex with EPHA1, LCK and phosphatidylinositol 3-kinase; upon activation by EFNA1. Interacts with GRB2 (via SH2 domain). Interacts with P53/TP53 and MDM2. Interacts with MYLK. Interacts with BCAR1. Interacts with PDPK1. Interacts (hypophosphorylated) with PXN. Interacts with RB1CC1. Interacts with RHOU. Interacts with VAV1. Interacts with LPXN and PTPN12. {ECO 0000250|UniProtKB P70600, ECO 0000250|UniProtKB Q9QVP9, ECO 0000269|PubMed 10022920, ECO 0000269|PubMed 10769033, ECO 0000269|PubMed 11493697, ECO 0000269|PubMed 12771146, ECO 0000269|PubMed 12893833, ECO 0000269|PubMed 14585963, ECO 0000269|PubMed 17329398, ECO 0000269|PubMed 17634955, ECO 0000269|PubMed 18086875, ECO 0000269|PubMed 18587400, ECO 0000269|PubMed 18765415, ECO 0000269|PubMed 18951788, ECO 0000269|PubMed 19086031, ECO 0000269|PubMed 19207108, ECO 0000269|PubMed 19358827, ECO 0000269|PubMed 19428251, ECO 0000269|PubMed 20521079, ECO 0000269|PubMed 21357692, ECO 0000269|PubMed 7544443, ECO 0000269|PubMed 8849729, ECO 0000269|PubMed 9422762}. # SUPFAM SSF47031 SSF47031 # SUPFAM SSF50729 SSF50729 # SUPFAM SSF54236 SSF54236 # SUPFAM SSF56112 SSF56112 # SUPFAM SSF68993 SSF68993 # TISSUE SPECIFICITY FAK2_HUMAN Most abundant in the brain, with highest levels in amygdala and hippocampus. Low levels in kidney (at protein level). Also expressed in spleen and lymphocytes. {ECO 0000269|PubMed 7544443, ECO 0000269|PubMed 9545257}. # TopDownProteomics Q14289-2 -. [Q14289-2] # UCSC uc003xfn human. [Q14289-1] # eggNOG ENOG410ZH9Y LUCA # eggNOG KOG4257 Eukaryota BLAST swissprot:FAK2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:FAK2_HUMAN BioCyc ZFISH:HS04447-MONOMER http://biocyc.org/getid?id=ZFISH:HS04447-MONOMER COXPRESdb 2185 http://coxpresdb.jp/data/gene/2185.shtml CleanEx HS_PTK2B http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_PTK2B DOI 10.1002/eji.200737111 http://dx.doi.org/10.1002/eji.200737111 DOI 10.1002/jcp.21649 http://dx.doi.org/10.1002/jcp.21649 DOI 10.1006/geno.1996.0149 http://dx.doi.org/10.1006/geno.1996.0149 DOI 10.1007/s00018-010-0411-x http://dx.doi.org/10.1007/s00018-010-0411-x DOI 10.1016/j.bbrc.2009.04.011 http://dx.doi.org/10.1016/j.bbrc.2009.04.011 DOI 10.1016/j.bmcl.2008.10.030 http://dx.doi.org/10.1016/j.bmcl.2008.10.030 DOI 10.1016/j.bmcl.2009.04.093 http://dx.doi.org/10.1016/j.bmcl.2009.04.093 DOI 10.1016/j.bmcl.2009.07.084 http://dx.doi.org/10.1016/j.bmcl.2009.07.084 DOI 10.1016/j.exphem.2004.01.001 http://dx.doi.org/10.1016/j.exphem.2004.01.001 DOI 10.1016/j.molcel.2008.07.007 http://dx.doi.org/10.1016/j.molcel.2008.07.007 DOI 10.1016/j.molimm.2010.03.009 http://dx.doi.org/10.1016/j.molimm.2010.03.009 DOI 10.1021/pr0704130 http://dx.doi.org/10.1021/pr0704130 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/376737a0 http://dx.doi.org/10.1038/376737a0 DOI 10.1038/383547a0 http://dx.doi.org/10.1038/383547a0 DOI 10.1038/nature04406 http://dx.doi.org/10.1038/nature04406 DOI 10.1038/nature05610 http://dx.doi.org/10.1038/nature05610 DOI 10.1038/ni.1628 http://dx.doi.org/10.1038/ni.1628 DOI 10.1042/BJ20090037 http://dx.doi.org/10.1042/BJ20090037 DOI 10.1073/pnas.171269898 http://dx.doi.org/10.1073/pnas.171269898 DOI 10.1073/pnas.2436191100 http://dx.doi.org/10.1073/pnas.2436191100 DOI 10.1074/jbc.270.36.21206 http://dx.doi.org/10.1074/jbc.270.36.21206 DOI 10.1074/jbc.270.46.27742 http://dx.doi.org/10.1074/jbc.270.46.27742 DOI 10.1074/jbc.273.16.9361 http://dx.doi.org/10.1074/jbc.273.16.9361 DOI 10.1074/jbc.273.2.1003 http://dx.doi.org/10.1074/jbc.273.2.1003 DOI 10.1074/jbc.M109.064212 http://dx.doi.org/10.1074/jbc.M109.064212 DOI 10.1074/jbc.M110.165464 http://dx.doi.org/10.1074/jbc.M110.165464 DOI 10.1074/jbc.M213217200 http://dx.doi.org/10.1074/jbc.M213217200 DOI 10.1074/jbc.M302278200 http://dx.doi.org/10.1074/jbc.M302278200 DOI 10.1074/jbc.M313527200 http://dx.doi.org/10.1074/jbc.M313527200 DOI 10.1074/jbc.M809038200 http://dx.doi.org/10.1074/jbc.M809038200 DOI 10.1074/mcp.M800588-MCP200 http://dx.doi.org/10.1074/mcp.M800588-MCP200 DOI 10.1083/jcb.149.2.423 http://dx.doi.org/10.1083/jcb.149.2.423 DOI 10.1093/carcin/bgn203 http://dx.doi.org/10.1093/carcin/bgn203 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.273.5276.792 http://dx.doi.org/10.1126/science.273.5276.792 DOI 10.1128/MCB.00201-07 http://dx.doi.org/10.1128/MCB.00201-07 DOI 10.1128/MCB.19.3.2338 http://dx.doi.org/10.1128/MCB.19.3.2338 DOI 10.1128/MCB.23.22.8019-8029.2003 http://dx.doi.org/10.1128/MCB.23.22.8019-8029.2003 DOI 10.1152/ajpcell.00503.2006 http://dx.doi.org/10.1152/ajpcell.00503.2006 DOI 10.1158/0008-5472.CAN-07-5155 http://dx.doi.org/10.1158/0008-5472.CAN-07-5155 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DOI 10.1189/jlb.0409227 http://dx.doi.org/10.1189/jlb.0409227 DOI 10.1242/jcs.045112 http://dx.doi.org/10.1242/jcs.045112 DOI 10.1371/journal.pone.0018878 http://dx.doi.org/10.1371/journal.pone.0018878 DOI 10.1385/IR:31:3:267 http://dx.doi.org/10.1385/IR:31:3:267 DOI 10.1517/14728220903473194 http://dx.doi.org/10.1517/14728220903473194 DOI 10.2741/3706 http://dx.doi.org/10.2741/3706 DrugBank DB01097 http://www.drugbank.ca/drugs/DB01097 EC_number EC:2.7.10.2 http://www.genome.jp/dbget-bin/www_bget?EC:2.7.10.2 EMBL AF311103 http://www.ebi.ac.uk/ena/data/view/AF311103 EMBL BC036651 http://www.ebi.ac.uk/ena/data/view/BC036651 EMBL BC042599 http://www.ebi.ac.uk/ena/data/view/BC042599 EMBL CH471080 http://www.ebi.ac.uk/ena/data/view/CH471080 EMBL CH471080 http://www.ebi.ac.uk/ena/data/view/CH471080 EMBL CH471080 http://www.ebi.ac.uk/ena/data/view/CH471080 EMBL D45853 http://www.ebi.ac.uk/ena/data/view/D45853 EMBL L49207 http://www.ebi.ac.uk/ena/data/view/L49207 EMBL S80542 http://www.ebi.ac.uk/ena/data/view/S80542 EMBL U33284 http://www.ebi.ac.uk/ena/data/view/U33284 EMBL U43522 http://www.ebi.ac.uk/ena/data/view/U43522 ENZYME 2.7.10.2 http://enzyme.expasy.org/EC/2.7.10.2 Ensembl ENST00000346049 http://www.ensembl.org/id/ENST00000346049 Ensembl ENST00000397501 http://www.ensembl.org/id/ENST00000397501 Ensembl ENST00000420218 http://www.ensembl.org/id/ENST00000420218 Ensembl ENST00000517339 http://www.ensembl.org/id/ENST00000517339 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0005856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005856 GO_component GO:0005925 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005925 GO_component GO:0005938 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005938 GO_component GO:0014069 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014069 GO_component GO:0017146 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0017146 GO_component GO:0030027 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030027 GO_component GO:0030424 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030424 GO_component GO:0030425 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030425 GO_component GO:0030426 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030426 GO_component GO:0031234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031234 GO_component GO:0043025 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043025 GO_component GO:0044297 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044297 GO_component GO:0045121 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045121 GO_component GO:0048471 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048471 GO_component GO:0097440 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097440 GO_function GO:0004683 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004683 GO_function GO:0004713 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004713 GO_function GO:0004715 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004715 GO_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GO_function GO:0004972 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004972 GO_function GO:0005102 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005102 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_process GO:0000165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000165 GO_process GO:0001525 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001525 GO_process GO:0001556 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001556 GO_process GO:0001666 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001666 GO_process GO:0001954 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001954 GO_process GO:0002040 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002040 GO_process GO:0002250 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002250 GO_process GO:0002315 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002315 GO_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GO_process GO:0006468 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006468 GO_process GO:0006915 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006915 GO_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GO_process GO:0006968 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006968 GO_process GO:0006970 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006970 GO_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GO_process GO:0007166 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007166 GO_process GO:0007172 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007172 GO_process GO:0007173 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007173 GO_process GO:0007204 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007204 GO_process GO:0007229 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007229 GO_process GO:0008284 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008284 GO_process GO:0008285 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008285 GO_process GO:0008360 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008360 GO_process GO:0009612 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009612 GO_process GO:0009725 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009725 GO_process GO:0009749 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009749 GO_process GO:0010226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010226 GO_process GO:0010595 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010595 GO_process GO:0010656 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010656 GO_process GO:0010752 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010752 GO_process GO:0010758 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010758 GO_process GO:0010976 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010976 GO_process GO:0014009 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014009 GO_process GO:0018108 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0018108 GO_process GO:0030155 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030155 GO_process GO:0030307 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030307 GO_process GO:0030335 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030335 GO_process GO:0030502 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030502 GO_process GO:0030826 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030826 GO_process GO:0030838 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030838 GO_process GO:0031175 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031175 GO_process GO:0032960 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032960 GO_process GO:0033209 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033209 GO_process GO:0035235 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035235 GO_process GO:0035902 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035902 GO_process GO:0038083 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0038083 GO_process GO:0042220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042220 GO_process GO:0042493 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042493 GO_process GO:0042542 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042542 GO_process GO:0042976 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042976 GO_process GO:0043066 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043066 GO_process GO:0043149 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043149 GO_process GO:0043267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043267 GO_process GO:0043507 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043507 GO_process GO:0043524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043524 GO_process GO:0043534 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043534 GO_process GO:0043552 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043552 GO_process GO:0045087 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045087 GO_process GO:0045429 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045429 GO_process GO:0045453 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045453 GO_process GO:0045471 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045471 GO_process GO:0045638 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045638 GO_process GO:0045727 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045727 GO_process GO:0045766 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045766 GO_process GO:0045860 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045860 GO_process GO:0046330 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046330 GO_process GO:0046777 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046777 GO_process GO:0048010 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048010 GO_process GO:0048041 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048041 GO_process GO:0050731 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050731 GO_process GO:0050848 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050848 GO_process GO:0051000 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051000 GO_process GO:0051279 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051279 GO_process GO:0051591 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051591 GO_process GO:0051592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051592 GO_process GO:0051968 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051968 GO_process GO:0060291 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060291 GO_process GO:0060292 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060292 GO_process GO:0070098 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070098 GO_process GO:0070374 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070374 GO_process GO:0071300 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071300 GO_process GO:0071498 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071498 GO_process GO:0090630 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090630 GO_process GO:2000058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000058 GO_process GO:2000060 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000060 GO_process GO:2000114 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000114 GO_process GO:2000249 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000249 GO_process GO:2000310 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000310 GO_process GO:2000463 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000463 GO_process GO:2000538 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000538 GO_process GO:2000573 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000573 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0005856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005856 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0016301 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016301 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0002376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002376 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006464 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006464 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007010 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007010 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0008219 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008219 GOslim_process GO:0008283 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008283 GOslim_process GO:0021700 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021700 GOslim_process GO:0022607 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022607 GOslim_process GO:0030154 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030154 GOslim_process GO:0034330 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034330 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0048646 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048646 GOslim_process GO:0048870 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048870 Gene3D 1.20.80.10 http://www.cathdb.info/version/latest/superfamily/1.20.80.10 GeneCards PTK2B http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=PTK2B GeneID 2185 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=2185 GeneTree ENSGT00760000118799 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118799 H-InvDB HIX0168898 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0168898 HGNC HGNC:9612 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:9612 HOGENOM HOG000069938 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000069938&db=HOGENOM6 HOVERGEN HBG004018 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG004018&db=HOVERGEN HPA CAB003850 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB003850 HPA HPA026091 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA026091 HPA HPA026276 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA026276 InParanoid Q14289 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q14289 IntAct Q14289 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q14289* IntEnz 2.7.10.2 http://www.ebi.ac.uk/intenz/query?cmd=Search&q=2.7.10.2 InterPro IPR000299 http://www.ebi.ac.uk/interpro/entry/IPR000299 InterPro IPR000719 http://www.ebi.ac.uk/interpro/entry/IPR000719 InterPro IPR001245 http://www.ebi.ac.uk/interpro/entry/IPR001245 InterPro IPR005189 http://www.ebi.ac.uk/interpro/entry/IPR005189 InterPro IPR008266 http://www.ebi.ac.uk/interpro/entry/IPR008266 InterPro IPR011009 http://www.ebi.ac.uk/interpro/entry/IPR011009 InterPro IPR011993 http://www.ebi.ac.uk/interpro/entry/IPR011993 InterPro IPR014352 http://www.ebi.ac.uk/interpro/entry/IPR014352 InterPro IPR017441 http://www.ebi.ac.uk/interpro/entry/IPR017441 InterPro IPR019748 http://www.ebi.ac.uk/interpro/entry/IPR019748 InterPro IPR019749 http://www.ebi.ac.uk/interpro/entry/IPR019749 InterPro IPR020635 http://www.ebi.ac.uk/interpro/entry/IPR020635 InterPro IPR029071 http://www.ebi.ac.uk/interpro/entry/IPR029071 InterPro IPR030610 http://www.ebi.ac.uk/interpro/entry/IPR030610 Jabion 2185 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=2185 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Brite ko01001 http://www.genome.jp/dbget-bin/www_bget?ko01001 KEGG_Gene hsa:2185 http://www.genome.jp/dbget-bin/www_bget?hsa:2185 KEGG_Orthology KO:K05871 http://www.genome.jp/dbget-bin/www_bget?KO:K05871 KEGG_Pathway ko04020 http://www.genome.jp/kegg-bin/show_pathway?ko04020 KEGG_Pathway ko04062 http://www.genome.jp/kegg-bin/show_pathway?ko04062 KEGG_Pathway ko04650 http://www.genome.jp/kegg-bin/show_pathway?ko04650 KEGG_Pathway ko04670 http://www.genome.jp/kegg-bin/show_pathway?ko04670 KEGG_Pathway ko04912 http://www.genome.jp/kegg-bin/show_pathway?ko04912 KEGG_Pathway ko05161 http://www.genome.jp/kegg-bin/show_pathway?ko05161 MIM 601212 http://www.ncbi.nlm.nih.gov/omim/601212 MINT MINT-1211326 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1211326 OMA VKTCKKD http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=VKTCKKD OrthoDB EOG091G03BN http://cegg.unige.ch/orthodb/results?searchtext=EOG091G03BN PANTHER PTHR24418:SF94 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24418:SF94 PDB 2FO6 http://www.ebi.ac.uk/pdbe-srv/view/entry/2FO6 PDB 2LK4 http://www.ebi.ac.uk/pdbe-srv/view/entry/2LK4 PDB 3CC6 http://www.ebi.ac.uk/pdbe-srv/view/entry/3CC6 PDB 3ET7 http://www.ebi.ac.uk/pdbe-srv/view/entry/3ET7 PDB 3FZO http://www.ebi.ac.uk/pdbe-srv/view/entry/3FZO PDB 3FZP http://www.ebi.ac.uk/pdbe-srv/view/entry/3FZP PDB 3FZR http://www.ebi.ac.uk/pdbe-srv/view/entry/3FZR PDB 3FZS http://www.ebi.ac.uk/pdbe-srv/view/entry/3FZS PDB 3FZT http://www.ebi.ac.uk/pdbe-srv/view/entry/3FZT PDB 3GM1 http://www.ebi.ac.uk/pdbe-srv/view/entry/3GM1 PDB 3GM2 http://www.ebi.ac.uk/pdbe-srv/view/entry/3GM2 PDB 3GM3 http://www.ebi.ac.uk/pdbe-srv/view/entry/3GM3 PDB 3H3C http://www.ebi.ac.uk/pdbe-srv/view/entry/3H3C PDB 3U3F http://www.ebi.ac.uk/pdbe-srv/view/entry/3U3F PDB 4EKU http://www.ebi.ac.uk/pdbe-srv/view/entry/4EKU PDB 4H1J http://www.ebi.ac.uk/pdbe-srv/view/entry/4H1J PDB 4H1M http://www.ebi.ac.uk/pdbe-srv/view/entry/4H1M PDB 4R32 http://www.ebi.ac.uk/pdbe-srv/view/entry/4R32 PDB 4XEF http://www.ebi.ac.uk/pdbe-srv/view/entry/4XEF PDB 4XEK http://www.ebi.ac.uk/pdbe-srv/view/entry/4XEK PDB 4XEV http://www.ebi.ac.uk/pdbe-srv/view/entry/4XEV PDBsum 2FO6 http://www.ebi.ac.uk/pdbsum/2FO6 PDBsum 2LK4 http://www.ebi.ac.uk/pdbsum/2LK4 PDBsum 3CC6 http://www.ebi.ac.uk/pdbsum/3CC6 PDBsum 3ET7 http://www.ebi.ac.uk/pdbsum/3ET7 PDBsum 3FZO http://www.ebi.ac.uk/pdbsum/3FZO PDBsum 3FZP http://www.ebi.ac.uk/pdbsum/3FZP PDBsum 3FZR http://www.ebi.ac.uk/pdbsum/3FZR PDBsum 3FZS http://www.ebi.ac.uk/pdbsum/3FZS PDBsum 3FZT http://www.ebi.ac.uk/pdbsum/3FZT PDBsum 3GM1 http://www.ebi.ac.uk/pdbsum/3GM1 PDBsum 3GM2 http://www.ebi.ac.uk/pdbsum/3GM2 PDBsum 3GM3 http://www.ebi.ac.uk/pdbsum/3GM3 PDBsum 3H3C http://www.ebi.ac.uk/pdbsum/3H3C PDBsum 3U3F http://www.ebi.ac.uk/pdbsum/3U3F PDBsum 4EKU http://www.ebi.ac.uk/pdbsum/4EKU PDBsum 4H1J http://www.ebi.ac.uk/pdbsum/4H1J PDBsum 4H1M http://www.ebi.ac.uk/pdbsum/4H1M PDBsum 4R32 http://www.ebi.ac.uk/pdbsum/4R32 PDBsum 4XEF http://www.ebi.ac.uk/pdbsum/4XEF PDBsum 4XEK http://www.ebi.ac.uk/pdbsum/4XEK PDBsum 4XEV http://www.ebi.ac.uk/pdbsum/4XEV PRINTS PR00109 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00109 PROSITE PS00107 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00107 PROSITE PS00109 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00109 PROSITE PS50011 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50011 PROSITE PS50057 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50057 PSORT swissprot:FAK2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:FAK2_HUMAN PSORT-B swissprot:FAK2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:FAK2_HUMAN PSORT2 swissprot:FAK2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:FAK2_HUMAN Pfam PF00373 http://pfam.xfam.org/family/PF00373 Pfam PF03623 http://pfam.xfam.org/family/PF03623 Pfam PF07714 http://pfam.xfam.org/family/PF07714 PharmGKB PA33956 http://www.pharmgkb.org/do/serve?objId=PA33956&objCls=Gene Phobius swissprot:FAK2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:FAK2_HUMAN PhylomeDB Q14289 http://phylomedb.org/?seqid=Q14289 ProteinModelPortal Q14289 http://www.proteinmodelportal.org/query/uniprot/Q14289 PubMed 10022920 http://www.ncbi.nlm.nih.gov/pubmed/10022920 PubMed 10769033 http://www.ncbi.nlm.nih.gov/pubmed/10769033 PubMed 11493697 http://www.ncbi.nlm.nih.gov/pubmed/11493697 PubMed 12522270 http://www.ncbi.nlm.nih.gov/pubmed/12522270 PubMed 12771146 http://www.ncbi.nlm.nih.gov/pubmed/12771146 PubMed 12893833 http://www.ncbi.nlm.nih.gov/pubmed/12893833 PubMed 14585963 http://www.ncbi.nlm.nih.gov/pubmed/14585963 PubMed 15050747 http://www.ncbi.nlm.nih.gov/pubmed/15050747 PubMed 15166227 http://www.ncbi.nlm.nih.gov/pubmed/15166227 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15888917 http://www.ncbi.nlm.nih.gov/pubmed/15888917 PubMed 16421571 http://www.ncbi.nlm.nih.gov/pubmed/16421571 PubMed 17329398 http://www.ncbi.nlm.nih.gov/pubmed/17329398 PubMed 17344846 http://www.ncbi.nlm.nih.gov/pubmed/17344846 PubMed 17634955 http://www.ncbi.nlm.nih.gov/pubmed/17634955 PubMed 18086875 http://www.ncbi.nlm.nih.gov/pubmed/18086875 PubMed 18088087 http://www.ncbi.nlm.nih.gov/pubmed/18088087 PubMed 18339875 http://www.ncbi.nlm.nih.gov/pubmed/18339875 PubMed 18587400 http://www.ncbi.nlm.nih.gov/pubmed/18587400 PubMed 18691976 http://www.ncbi.nlm.nih.gov/pubmed/18691976 PubMed 18765415 http://www.ncbi.nlm.nih.gov/pubmed/18765415 PubMed 18951788 http://www.ncbi.nlm.nih.gov/pubmed/18951788 PubMed 19086031 http://www.ncbi.nlm.nih.gov/pubmed/19086031 PubMed 19207108 http://www.ncbi.nlm.nih.gov/pubmed/19207108 PubMed 19244237 http://www.ncbi.nlm.nih.gov/pubmed/19244237 PubMed 19358827 http://www.ncbi.nlm.nih.gov/pubmed/19358827 PubMed 19369195 http://www.ncbi.nlm.nih.gov/pubmed/19369195 PubMed 19428251 http://www.ncbi.nlm.nih.gov/pubmed/19428251 PubMed 19648005 http://www.ncbi.nlm.nih.gov/pubmed/19648005 PubMed 19880522 http://www.ncbi.nlm.nih.gov/pubmed/19880522 PubMed 20001213 http://www.ncbi.nlm.nih.gov/pubmed/20001213 PubMed 20028775 http://www.ncbi.nlm.nih.gov/pubmed/20028775 PubMed 20332118 http://www.ncbi.nlm.nih.gov/pubmed/20332118 PubMed 20381867 http://www.ncbi.nlm.nih.gov/pubmed/20381867 PubMed 20521079 http://www.ncbi.nlm.nih.gov/pubmed/20521079 PubMed 21196189 http://www.ncbi.nlm.nih.gov/pubmed/21196189 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 21357692 http://www.ncbi.nlm.nih.gov/pubmed/21357692 PubMed 21533080 http://www.ncbi.nlm.nih.gov/pubmed/21533080 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 7499242 http://www.ncbi.nlm.nih.gov/pubmed/7499242 PubMed 7544443 http://www.ncbi.nlm.nih.gov/pubmed/7544443 PubMed 7673154 http://www.ncbi.nlm.nih.gov/pubmed/7673154 PubMed 8670418 http://www.ncbi.nlm.nih.gov/pubmed/8670418 PubMed 8838818 http://www.ncbi.nlm.nih.gov/pubmed/8838818 PubMed 8849729 http://www.ncbi.nlm.nih.gov/pubmed/8849729 PubMed 9422762 http://www.ncbi.nlm.nih.gov/pubmed/9422762 PubMed 9545257 http://www.ncbi.nlm.nih.gov/pubmed/9545257 Reactome R-HSA-391160 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-391160 Reactome R-HSA-4420097 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-4420097 Reactome R-HSA-451927 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-451927 RefSeq NP_004094 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004094 RefSeq NP_775266 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_775266 RefSeq NP_775267 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_775267 RefSeq NP_775268 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_775268 RefSeq XP_005273504 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005273504 RefSeq XP_011542743 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011542743 RefSeq XP_016868703 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016868703 SMART SM00219 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00219 SMART SM00295 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00295 SMR Q14289 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q14289 STRING 9606.ENSP00000332816 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000332816&targetmode=cogs SUPFAM SSF47031 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF47031 SUPFAM SSF50729 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF50729 SUPFAM SSF54236 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF54236 SUPFAM SSF56112 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF56112 SUPFAM SSF68993 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF68993 UCSC uc003xfn http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003xfn&org=rat UniGene Hs.491322 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.491322 UniGene Hs.735450 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.735450 UniProtKB FAK2_HUMAN http://www.uniprot.org/uniprot/FAK2_HUMAN UniProtKB-AC Q14289 http://www.uniprot.org/uniprot/Q14289 charge swissprot:FAK2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:FAK2_HUMAN eggNOG ENOG410ZH9Y http://eggnogapi.embl.de/nog_data/html/tree/ENOG410ZH9Y eggNOG KOG4257 http://eggnogapi.embl.de/nog_data/html/tree/KOG4257 epestfind swissprot:FAK2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:FAK2_HUMAN garnier swissprot:FAK2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:FAK2_HUMAN helixturnhelix swissprot:FAK2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:FAK2_HUMAN hmoment swissprot:FAK2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:FAK2_HUMAN iep swissprot:FAK2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:FAK2_HUMAN inforesidue swissprot:FAK2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:FAK2_HUMAN neXtProt NX_Q14289 http://www.nextprot.org/db/entry/NX_Q14289 octanol swissprot:FAK2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:FAK2_HUMAN pepcoil swissprot:FAK2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:FAK2_HUMAN pepdigest swissprot:FAK2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:FAK2_HUMAN pepinfo swissprot:FAK2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:FAK2_HUMAN pepnet swissprot:FAK2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:FAK2_HUMAN pepstats swissprot:FAK2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:FAK2_HUMAN pepwheel swissprot:FAK2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:FAK2_HUMAN pepwindow swissprot:FAK2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:FAK2_HUMAN sigcleave swissprot:FAK2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:FAK2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS NPAL3_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q6P499-1; Sequence=Displayed; Name=2; IsoId=Q6P499-2; Sequence=VSP_019445; Note=No experimental confirmation available.; Name=3; IsoId=Q6P499-3; Sequence=VSP_019446, VSP_019447; Note=No experimental confirmation available.; # BioGrid 121434 3 # CCDS CCDS30631 -. [Q6P499-1] # CCDS CCDS81280 -. [Q6P499-3] # CCDS CCDS81282 -. [Q6P499-2] # ChiTaRS NIPAL3 human # Ensembl ENST00000003912 ENSP00000003912; ENSG00000001461. [Q6P499-2] # Ensembl ENST00000358028 ENSP00000350722; ENSG00000001461. [Q6P499-3] # Ensembl ENST00000374399 ENSP00000363520; ENSG00000001461. [Q6P499-1] # ExpressionAtlas Q6P499 baseline and differential # GO_component GO:0016020 membrane; IBA:GO_Central. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0015095 magnesium ion transmembrane transporter activity; IEA:InterPro. # GO_process GO:0002377 immunoglobulin production; IEA:Ensembl. # GO_process GO:0015693 magnesium ion transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0002376 immune system process # GOslim_process GO:0006810 transport # Genevisible Q6P499 HS # HGNC HGNC:25233 NIPAL3 # INTERACTION NPAL3_HUMAN Q92838 EDA; NbExp=5; IntAct=EBI-10252783, EBI-529425; # IntAct Q6P499 2 # InterPro IPR008521 Mg_trans_NIPA # Organism NPAL3_HUMAN Homo sapiens (Human) # PANTHER PTHR12570 PTHR12570 # Pfam PF05653 Mg_trans_NIPA # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-5223345 Miscellaneous transport and binding events # RecName NPAL3_HUMAN NIPA-like protein 3 # RefSeq NP_001309783 NM_001322854.1. [Q6P499-1] # RefSeq NP_001309784 NM_001322855.1. [Q6P499-1] # RefSeq NP_001309785 NM_001322856.1. [Q6P499-1] # RefSeq NP_001309786 NM_001322857.1. [Q6P499-1] # RefSeq NP_001309791 NM_001322862.1. [Q6P499-2] # RefSeq NP_001309792 NM_001322863.1. [Q6P499-2] # RefSeq NP_001309794 NM_001322865.1. [Q6P499-3] # RefSeq NP_065181 NM_020448.4. [Q6P499-1] # SIMILARITY Belongs to the NIPA family. {ECO 0000305}. # SUBCELLULAR LOCATION NPAL3_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # TCDB 2.A.7.25 the drug/metabolite transporter (dmt) superfamily # UCSC uc001bjh human. [Q6P499-1] # eggNOG ENOG410XNR8 LUCA # eggNOG KOG2922 Eukaryota BLAST swissprot:NPAL3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:NPAL3_HUMAN COXPRESdb 57185 http://coxpresdb.jp/data/gene/57185.shtml CleanEx HS_NPAL3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_NPAL3 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/scisignal.2000007 http://dx.doi.org/10.1126/scisignal.2000007 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 EMBL AK312433 http://www.ebi.ac.uk/ena/data/view/AK312433 EMBL AL031431 http://www.ebi.ac.uk/ena/data/view/AL031431 EMBL AL031431 http://www.ebi.ac.uk/ena/data/view/AL031431 EMBL AL031431 http://www.ebi.ac.uk/ena/data/view/AL031431 EMBL BC001265 http://www.ebi.ac.uk/ena/data/view/BC001265 EMBL BC063583 http://www.ebi.ac.uk/ena/data/view/BC063583 EMBL BX640883 http://www.ebi.ac.uk/ena/data/view/BX640883 EMBL CH471134 http://www.ebi.ac.uk/ena/data/view/CH471134 Ensembl ENST00000003912 http://www.ensembl.org/id/ENST00000003912 Ensembl ENST00000358028 http://www.ensembl.org/id/ENST00000358028 Ensembl ENST00000374399 http://www.ensembl.org/id/ENST00000374399 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0015095 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015095 GO_process GO:0002377 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002377 GO_process GO:0015693 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015693 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0002376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002376 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GeneCards NIPAL3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=NIPAL3 GeneID 57185 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=57185 GeneTree ENSGT00550000074395 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074395 H-InvDB HIX0000263 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0000263 HGNC HGNC:25233 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:25233 HOGENOM HOG000230865 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000230865&db=HOGENOM6 HOVERGEN HBG069791 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG069791&db=HOVERGEN HPA HPA039978 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA039978 InParanoid Q6P499 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q6P499 IntAct Q6P499 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q6P499* InterPro IPR008521 http://www.ebi.ac.uk/interpro/entry/IPR008521 Jabion 57185 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=57185 KEGG_Gene hsa:57185 http://www.genome.jp/dbget-bin/www_bget?hsa:57185 OMA YMLVEII http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=YMLVEII OrthoDB EOG091G09Z6 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G09Z6 PANTHER PTHR12570 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12570 PSORT swissprot:NPAL3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:NPAL3_HUMAN PSORT-B swissprot:NPAL3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:NPAL3_HUMAN PSORT2 swissprot:NPAL3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:NPAL3_HUMAN Pfam PF05653 http://pfam.xfam.org/family/PF05653 PharmGKB PA164723927 http://www.pharmgkb.org/do/serve?objId=PA164723927&objCls=Gene Phobius swissprot:NPAL3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:NPAL3_HUMAN PhylomeDB Q6P499 http://phylomedb.org/?seqid=Q6P499 ProteinModelPortal Q6P499 http://www.proteinmodelportal.org/query/uniprot/Q6P499 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 PubMed 19690332 http://www.ncbi.nlm.nih.gov/pubmed/19690332 Reactome R-HSA-5223345 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5223345 RefSeq NP_001309783 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001309783 RefSeq NP_001309784 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001309784 RefSeq NP_001309785 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001309785 RefSeq NP_001309786 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001309786 RefSeq NP_001309791 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001309791 RefSeq NP_001309792 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001309792 RefSeq NP_001309794 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001309794 RefSeq NP_065181 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_065181 STRING 9606.ENSP00000363520 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000363520&targetmode=cogs TCDB 2.A.7.25 http://www.tcdb.org/search/result.php?tc=2.A.7.25 UCSC uc001bjh http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001bjh&org=rat UniGene Hs.523442 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.523442 UniProtKB NPAL3_HUMAN http://www.uniprot.org/uniprot/NPAL3_HUMAN UniProtKB-AC Q6P499 http://www.uniprot.org/uniprot/Q6P499 charge swissprot:NPAL3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:NPAL3_HUMAN eggNOG ENOG410XNR8 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XNR8 eggNOG KOG2922 http://eggnogapi.embl.de/nog_data/html/tree/KOG2922 epestfind swissprot:NPAL3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:NPAL3_HUMAN garnier swissprot:NPAL3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:NPAL3_HUMAN helixturnhelix swissprot:NPAL3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:NPAL3_HUMAN hmoment swissprot:NPAL3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:NPAL3_HUMAN iep swissprot:NPAL3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:NPAL3_HUMAN inforesidue swissprot:NPAL3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:NPAL3_HUMAN neXtProt NX_Q6P499 http://www.nextprot.org/db/entry/NX_Q6P499 octanol swissprot:NPAL3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:NPAL3_HUMAN pepcoil swissprot:NPAL3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:NPAL3_HUMAN pepdigest swissprot:NPAL3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:NPAL3_HUMAN pepinfo swissprot:NPAL3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:NPAL3_HUMAN pepnet swissprot:NPAL3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:NPAL3_HUMAN pepstats swissprot:NPAL3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:NPAL3_HUMAN pepwheel swissprot:NPAL3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:NPAL3_HUMAN pepwindow swissprot:NPAL3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:NPAL3_HUMAN sigcleave swissprot:NPAL3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:NPAL3_HUMAN ## Database ID URL or Descriptions # AltName NPT2C_HUMAN Na(+)-dependent phosphate cotransporter 2C # AltName NPT2C_HUMAN Sodium/inorganic phosphate cotransporter IIC # AltName NPT2C_HUMAN Sodium/phosphate cotransporter 2C # AltName NPT2C_HUMAN Solute carrier family 34 member 3 # BIOPHYSICOCHEMICAL PROPERTIES Kinetic parameters: KM=79 uM for phosphate {ECO 0000269|PubMed:11880379}; # ChiTaRS SLC34A3 human # DISEASE NPT2C_HUMAN Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) [MIM 241530] Autosomal recessive form of hypophosphatemia characterized by reduced renal phosphate reabsorption and rickets. Increased serum levels of 1,25-dihydroxyvitamin D lead to increase in urinary calcium excretion. {ECO 0000269|PubMed 16358214, ECO 0000269|PubMed 16358215}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000361134 ENSP00000355353; ENSG00000198569 # Ensembl ENST00000538474 ENSP00000442397; ENSG00000198569 # FUNCTION NPT2C_HUMAN May be involved in actively transporting phosphate into cells via Na(+) cotransport in the renal brush border membrane. Probably mediates 20-30% of the apical influx. # GO_component GO:0005737 cytoplasm; IBA:GO_Central. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005903 brush border; IBA:GO_Central. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0016324 apical plasma membrane; ISS:HGNC. # GO_component GO:0031526 brush border membrane; IEA:InterPro. # GO_component GO:0031982 vesicle; IBA:GO_Central. # GO_function GO:0005315 inorganic phosphate transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015321 sodium-dependent phosphate transmembrane transporter activity; IDA:UniProtKB. # GO_function NPT2C_HUMAN GO 0005436 sodium phosphate symporter activity; IDA UniProtKB. # GO_process GO:0006814 sodium ion transport; IDA:UniProtKB. # GO_process GO:0006817 phosphate ion transport; IDA:UniProtKB. # GO_process GO:0030643 cellular phosphate ion homeostasis; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0042592 homeostatic process # Genevisible Q8N130 HS # HGNC HGNC:20305 SLC34A3 # InterPro IPR003841 Na/Pi_transpt # InterPro IPR029850 Na/Pi_transpt_2C # KEGG_Brite ko02001 Solute carrier family # KEGG_Disease H00214 [Inherited metabolic disease; Connective tissue disease; Urologic disease] Hereditary hypophophatemic rickets with hypercalciuria (HHRH) # MIM 241530 phenotype # MIM 609826 gene # MISCELLANEOUS A 2 1 stoichiometry to Na(+)/Pi is observed at pH 7.4. # Organism NPT2C_HUMAN Homo sapiens (Human) # Orphanet 157215 Hereditary hypophosphatemic rickets with hypercalciuria # PANTHER PTHR10010:SF35 PTHR10010:SF35; 2 # Pfam PF02690 Na_Pi_cotrans; 2 # Proteomes UP000005640 Chromosome 9 # Reactome R-HSA-427589 Type II Na+/Pi cotransporters # RecName NPT2C_HUMAN Sodium-dependent phosphate transport protein 2C # RefSeq NP_001170787 NM_001177316.1 # RefSeq NP_001170788 NM_001177317.1 # RefSeq NP_543153 NM_080877.2 # RefSeq XP_016869781 XM_017014292.1 # SIMILARITY Belongs to the SLC34A transporter family. {ECO 0000305}. # SUBCELLULAR LOCATION NPT2C_HUMAN Membrane; Multi-pass membrane protein. # TCDB 2.A.58.1:the phosphate na(+) symporter (pnas) family # TIGRFAMs TIGR01013 2a58 # UCSC uc004cmf human # eggNOG COG1283 LUCA # eggNOG ENOG410IE8P Eukaryota BLAST swissprot:NPT2C_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:NPT2C_HUMAN BioCyc ZFISH:G66-31912-MONOMER http://biocyc.org/getid?id=ZFISH:G66-31912-MONOMER COG COG1283 http://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=COG1283 COXPRESdb 142680 http://coxpresdb.jp/data/gene/142680.shtml CleanEx HS_SLC34A3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC34A3 DOI 10.1038/nature02465 http://dx.doi.org/10.1038/nature02465 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.M200943200 http://dx.doi.org/10.1074/jbc.M200943200 DOI 10.1086/499409 http://dx.doi.org/10.1086/499409 DOI 10.1086/499410 http://dx.doi.org/10.1086/499410 EMBL AB055000 http://www.ebi.ac.uk/ena/data/view/AB055000 EMBL AK095999 http://www.ebi.ac.uk/ena/data/view/AK095999 EMBL BX255925 http://www.ebi.ac.uk/ena/data/view/BX255925 Ensembl ENST00000361134 http://www.ensembl.org/id/ENST00000361134 Ensembl ENST00000538474 http://www.ensembl.org/id/ENST00000538474 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005903 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005903 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:0031526 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031526 GO_component GO:0031982 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031982 GO_function GO:0005315 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005315 GO_function GO:0005436 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005436 GO_function GO:0015321 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015321 GO_process GO:0006814 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006814 GO_process GO:0006817 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006817 GO_process GO:0030643 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030643 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GeneCards SLC34A3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC34A3 GeneID 142680 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=142680 GeneTree ENSGT00390000005032 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000005032 HGNC HGNC:20305 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:20305 HOGENOM HOG000006550 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000006550&db=HOGENOM6 HOVERGEN HBG006527 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG006527&db=HOVERGEN HPA HPA023776 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA023776 InParanoid Q8N130 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8N130 InterPro IPR003841 http://www.ebi.ac.uk/interpro/entry/IPR003841 InterPro IPR029850 http://www.ebi.ac.uk/interpro/entry/IPR029850 Jabion 142680 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=142680 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Disease H00214 http://www.genome.jp/dbget-bin/www_bget?H00214 KEGG_Gene hsa:142680 http://www.genome.jp/dbget-bin/www_bget?hsa:142680 KEGG_Orthology KO:K14683 http://www.genome.jp/dbget-bin/www_bget?KO:K14683 MIM 241530 http://www.ncbi.nlm.nih.gov/omim/241530 MIM 609826 http://www.ncbi.nlm.nih.gov/omim/609826 OMA NCGAFGP http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=NCGAFGP Orphanet 157215 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=157215 OrthoDB EOG091G0DR5 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0DR5 PANTHER PTHR10010:SF35 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10010:SF35 PSORT swissprot:NPT2C_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:NPT2C_HUMAN PSORT-B swissprot:NPT2C_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:NPT2C_HUMAN PSORT2 swissprot:NPT2C_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:NPT2C_HUMAN Pfam PF02690 http://pfam.xfam.org/family/PF02690 PharmGKB PA134930298 http://www.pharmgkb.org/do/serve?objId=PA134930298&objCls=Gene Phobius swissprot:NPT2C_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:NPT2C_HUMAN PhylomeDB Q8N130 http://phylomedb.org/?seqid=Q8N130 ProteinModelPortal Q8N130 http://www.proteinmodelportal.org/query/uniprot/Q8N130 PubMed 11880379 http://www.ncbi.nlm.nih.gov/pubmed/11880379 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15164053 http://www.ncbi.nlm.nih.gov/pubmed/15164053 PubMed 16358214 http://www.ncbi.nlm.nih.gov/pubmed/16358214 PubMed 16358215 http://www.ncbi.nlm.nih.gov/pubmed/16358215 Reactome R-HSA-427589 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-427589 RefSeq NP_001170787 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001170787 RefSeq NP_001170788 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001170788 RefSeq NP_543153 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_543153 RefSeq XP_016869781 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016869781 STRING 9606.ENSP00000355353 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000355353&targetmode=cogs STRING COG1283 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=COG1283&targetmode=cogs TCDB 2.A.58.1 http://www.tcdb.org/search/result.php?tc=2.A.58.1 TIGRFAMs TIGR01013 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01013 UCSC uc004cmf http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc004cmf&org=rat UniGene Hs.432442 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.432442 UniProtKB NPT2C_HUMAN http://www.uniprot.org/uniprot/NPT2C_HUMAN UniProtKB-AC Q8N130 http://www.uniprot.org/uniprot/Q8N130 charge swissprot:NPT2C_HUMAN http://rest.g-language.org/emboss/charge/swissprot:NPT2C_HUMAN eggNOG COG1283 http://eggnogapi.embl.de/nog_data/html/tree/COG1283 eggNOG ENOG410IE8P http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IE8P epestfind swissprot:NPT2C_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:NPT2C_HUMAN garnier swissprot:NPT2C_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:NPT2C_HUMAN helixturnhelix swissprot:NPT2C_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:NPT2C_HUMAN hmoment swissprot:NPT2C_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:NPT2C_HUMAN iep swissprot:NPT2C_HUMAN http://rest.g-language.org/emboss/iep/swissprot:NPT2C_HUMAN inforesidue swissprot:NPT2C_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:NPT2C_HUMAN neXtProt NX_Q8N130 http://www.nextprot.org/db/entry/NX_Q8N130 octanol swissprot:NPT2C_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:NPT2C_HUMAN pepcoil swissprot:NPT2C_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:NPT2C_HUMAN pepdigest swissprot:NPT2C_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:NPT2C_HUMAN pepinfo swissprot:NPT2C_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:NPT2C_HUMAN pepnet swissprot:NPT2C_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:NPT2C_HUMAN pepstats swissprot:NPT2C_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:NPT2C_HUMAN pepwheel swissprot:NPT2C_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:NPT2C_HUMAN pepwindow swissprot:NPT2C_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:NPT2C_HUMAN sigcleave swissprot:NPT2C_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:NPT2C_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS EAA2_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=P43004-1; Sequence=Displayed; Name=2; IsoId=P43004-2; Sequence=VSP_037152; Name=3; Synonyms=EEAT2b; IsoId=P43004-3; Sequence=VSP_054934; # AltName EAA2_HUMAN Glutamate/aspartate transporter II # AltName EAA2_HUMAN Sodium-dependent glutamate/aspartate transporter 2 # AltName EAA2_HUMAN Solute carrier family 1 member 2 # BioGrid 112397 10 # CCDS CCDS31459 -. [P43004-1] # CCDS CCDS55756 -. [P43004-2] # ChiTaRS SLC1A2 human # Ensembl ENST00000278379 ENSP00000278379; ENSG00000110436. [P43004-1] # Ensembl ENST00000395750 ENSP00000379099; ENSG00000110436. [P43004-2] # Ensembl ENST00000395753 ENSP00000379102; ENSG00000110436. [P43004-2] # Ensembl ENST00000606205 ENSP00000476124; ENSG00000110436. [P43004-3] # ExpressionAtlas P43004 baseline and differential # FUNCTION EAA2_HUMAN Transports L-glutamate and also L- and D-aspartate. Essential for terminating the postsynaptic action of glutamate by rapidly removing released glutamate from the synaptic cleft. Acts as a symport by cotransporting sodium. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0009986 cell surface; IDA:UniProtKB. # GO_component GO:0016020 membrane; TAS:ProtInc. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0030673 axolemma; IEA:Ensembl. # GO_function EAA2_HUMAN GO 0015501 glutamate sodium symporter activity; IEA Ensembl. # GO_function GO:0005313 L-glutamate transmembrane transporter activity; IDA:BHF-UCL. # GO_function GO:0005314 high-affinity glutamate transmembrane transporter activity; TAS:Reactome. # GO_function GO:0015171 amino acid transmembrane transporter activity; TAS:Reactome. # GO_process GO:0006811 ion transport; TAS:Reactome. # GO_process GO:0007268 chemical synaptic transmission; TAS:ProtInc. # GO_process GO:0007632 visual behavior; IEA:Ensembl. # GO_process GO:0009611 response to wounding; IEA:Ensembl. # GO_process GO:0010259 multicellular organism aging; IEA:Ensembl. # GO_process GO:0014047 glutamate secretion; TAS:Reactome. # GO_process GO:0021537 telencephalon development; IEA:Ensembl. # GO_process GO:0030534 adult behavior; IEA:Ensembl. # GO_process GO:0031668 cellular response to extracellular stimulus; IEA:Ensembl. # GO_process GO:0035264 multicellular organism growth; IEA:Ensembl. # GO_process GO:0042493 response to drug; IEA:Ensembl. # GO_process GO:0043200 response to amino acid; IEA:Ensembl. # GO_process GO:0046326 positive regulation of glucose import; IEA:Ensembl. # GO_process GO:0051938 L-glutamate import; IDA:UniProtKB. # GO_process GO:0070779 D-aspartate import; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0007568 aging # GOslim_process GO:0008150 biological_process # GOslim_process GO:0040007 growth # GOslim_process GO:0048856 anatomical structure development # Gene3D 1.10.3860.10 -; 2. # Genevisible P43004 HS # HGNC HGNC:10940 SLC1A2 # INTERACTION EAA2_HUMAN P10636 MAPT; NbExp=4; IntAct=EBI-3440986, EBI-366182; # IntAct P43004 2 # InterPro IPR001991 Na-dicarboxylate_symporter # InterPro IPR018107 Na-dicarboxylate_symporter_CS # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02001 Solute carrier family # KEGG_Pathway ko04724 Glutamatergic synapse # KEGG_Pathway ko05014 Amyotrophic lateral sclerosis (ALS) # MIM 600300 gene # Organism EAA2_HUMAN Homo sapiens (Human) # PANTHER PTHR11958 PTHR11958; 2 # PIR I37426 I37426 # PIR I38432 I38432 # PRINTS PR00173 EDTRNSPORT # PROSITE PS00713 NA_DICARBOXYL_SYMP_1 # PROSITE PS00714 NA_DICARBOXYL_SYMP_2 # PTM EAA2_HUMAN Glycosylated. # PTM EAA2_HUMAN Palmitoylation at Cys-38 is not required for correct subcellular localization, but is important for glutamate uptake activity. {ECO 0000250}. # Pfam PF00375 SDF # Proteomes UP000005640 Chromosome 11 # Reactome R-HSA-210455 Astrocytic Glutamate-Glutamine Uptake And Metabolism # Reactome R-HSA-210500 Glutamate Neurotransmitter Release Cycle # Reactome R-HSA-425393 Transport of inorganic cations/anions and amino acids/oligopeptides # RecName EAA2_HUMAN Excitatory amino acid transporter 2 # RefSeq NP_001182657 NM_001195728.2. [P43004-2] # RefSeq NP_001239581 NM_001252652.1. [P43004-2] # RefSeq NP_004162 NM_004171.3. [P43004-1] # SIMILARITY Belongs to the dicarboxylate/amino acid:cation symporter (DAACS) (TC 2.A.23) family. SLC1A2 subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION EAA2_HUMAN Membrane; Multi-pass membrane protein. # SUBUNIT Homotrimer. Isoform 3 can oligomerize with isoform 1. Interacts with AJUBA (By similarity). {ECO 0000250}. # SUPFAM SSF118215 SSF118215; 2 # TCDB 2.A.23.2:the dicarboxylate/amino acid cation (na(+) or h(+)) symporter (daacs) family # UCSC uc001mwd human. [P43004-1] # eggNOG COG1301 LUCA # eggNOG KOG3787 Eukaryota BLAST swissprot:EAA2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:EAA2_HUMAN BioCyc ZFISH:ENSG00000110436-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000110436-MONOMER COXPRESdb 6506 http://coxpresdb.jp/data/gene/6506.shtml CleanEx HS_SLC1A2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC1A2 DOI 10.1016/0005-2736(94)90026-4 http://dx.doi.org/10.1016/0005-2736(94)90026-4 DOI 10.1016/0005-2736(94)90192-9 http://dx.doi.org/10.1016/0005-2736(94)90192-9 DOI 10.1038/nature04632 http://dx.doi.org/10.1038/nature04632 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1046/j.1471-4159.2003.01958.x http://dx.doi.org/10.1046/j.1471-4159.2003.01958.x DOI 10.1074/jbc.M110.153494 http://dx.doi.org/10.1074/jbc.M110.153494 DOI 10.1074/jbc.M408038200 http://dx.doi.org/10.1074/jbc.M408038200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AC090625 http://www.ebi.ac.uk/ena/data/view/AC090625 EMBL AK298769 http://www.ebi.ac.uk/ena/data/view/AK298769 EMBL AL133330 http://www.ebi.ac.uk/ena/data/view/AL133330 EMBL AY066021 http://www.ebi.ac.uk/ena/data/view/AY066021 EMBL BC132768 http://www.ebi.ac.uk/ena/data/view/BC132768 EMBL CH471064 http://www.ebi.ac.uk/ena/data/view/CH471064 EMBL D85884 http://www.ebi.ac.uk/ena/data/view/D85884 EMBL U01824 http://www.ebi.ac.uk/ena/data/view/U01824 EMBL U03505 http://www.ebi.ac.uk/ena/data/view/U03505 EMBL Z32517 http://www.ebi.ac.uk/ena/data/view/Z32517 Ensembl ENST00000278379 http://www.ensembl.org/id/ENST00000278379 Ensembl ENST00000395750 http://www.ensembl.org/id/ENST00000395750 Ensembl ENST00000395753 http://www.ensembl.org/id/ENST00000395753 Ensembl ENST00000606205 http://www.ensembl.org/id/ENST00000606205 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0009986 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009986 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0030673 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030673 GO_function GO:0005313 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005313 GO_function GO:0005314 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005314 GO_function GO:0015171 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015171 GO_function GO:0015501 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015501 GO_process GO:0006811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006811 GO_process GO:0007268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007268 GO_process GO:0007632 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007632 GO_process GO:0009611 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009611 GO_process GO:0010259 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010259 GO_process GO:0014047 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014047 GO_process GO:0021537 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021537 GO_process GO:0030534 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030534 GO_process GO:0031668 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031668 GO_process GO:0035264 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035264 GO_process GO:0042493 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042493 GO_process GO:0043200 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043200 GO_process GO:0046326 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046326 GO_process GO:0051938 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051938 GO_process GO:0070779 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070779 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0007568 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007568 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0040007 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0040007 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 Gene3D 1.10.3860.10 http://www.cathdb.info/version/latest/superfamily/1.10.3860.10 GeneCards SLC1A2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC1A2 GeneID 6506 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6506 GeneTree ENSGT00760000119117 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119117 HGNC HGNC:10940 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10940 HOVERGEN HBG000080 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG000080&db=HOVERGEN HPA CAB002574 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB002574 HPA HPA009172 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA009172 InParanoid P43004 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P43004 IntAct P43004 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P43004* InterPro IPR001991 http://www.ebi.ac.uk/interpro/entry/IPR001991 InterPro IPR018107 http://www.ebi.ac.uk/interpro/entry/IPR018107 Jabion 6506 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6506 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:6506 http://www.genome.jp/dbget-bin/www_bget?hsa:6506 KEGG_Orthology KO:K05613 http://www.genome.jp/dbget-bin/www_bget?KO:K05613 KEGG_Pathway ko04724 http://www.genome.jp/kegg-bin/show_pathway?ko04724 KEGG_Pathway ko05014 http://www.genome.jp/kegg-bin/show_pathway?ko05014 MIM 600300 http://www.ncbi.nlm.nih.gov/omim/600300 OMA IKMERLG http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=IKMERLG OrthoDB EOG091G0UCE http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0UCE PANTHER PTHR11958 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11958 PRINTS PR00173 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00173 PROSITE PS00713 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00713 PROSITE PS00714 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00714 PSORT swissprot:EAA2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:EAA2_HUMAN PSORT-B swissprot:EAA2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:EAA2_HUMAN PSORT2 swissprot:EAA2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:EAA2_HUMAN Pfam PF00375 http://pfam.xfam.org/family/PF00375 PharmGKB PA35827 http://www.pharmgkb.org/do/serve?objId=PA35827&objCls=Gene Phobius swissprot:EAA2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:EAA2_HUMAN PhylomeDB P43004 http://phylomedb.org/?seqid=P43004 ProteinModelPortal P43004 http://www.proteinmodelportal.org/query/uniprot/P43004 PubMed 12950454 http://www.ncbi.nlm.nih.gov/pubmed/12950454 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15265858 http://www.ncbi.nlm.nih.gov/pubmed/15265858 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16554811 http://www.ncbi.nlm.nih.gov/pubmed/16554811 PubMed 20688910 http://www.ncbi.nlm.nih.gov/pubmed/20688910 PubMed 7521911 http://www.ncbi.nlm.nih.gov/pubmed/7521911 PubMed 7522567 http://www.ncbi.nlm.nih.gov/pubmed/7522567 PubMed 8172925 http://www.ncbi.nlm.nih.gov/pubmed/8172925 PubMed 9463476 http://www.ncbi.nlm.nih.gov/pubmed/9463476 Reactome R-HSA-210455 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-210455 Reactome R-HSA-210500 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-210500 Reactome R-HSA-425393 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-425393 RefSeq NP_001182657 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001182657 RefSeq NP_001239581 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001239581 RefSeq NP_004162 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004162 STRING 9606.ENSP00000278379 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000278379&targetmode=cogs SUPFAM SSF118215 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF118215 TCDB 2.A.23.2 http://www.tcdb.org/search/result.php?tc=2.A.23.2 UCSC uc001mwd http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001mwd&org=rat UniGene Hs.502338 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.502338 UniGene Hs.661429 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.661429 UniProtKB EAA2_HUMAN http://www.uniprot.org/uniprot/EAA2_HUMAN UniProtKB-AC P43004 http://www.uniprot.org/uniprot/P43004 charge swissprot:EAA2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:EAA2_HUMAN eggNOG COG1301 http://eggnogapi.embl.de/nog_data/html/tree/COG1301 eggNOG KOG3787 http://eggnogapi.embl.de/nog_data/html/tree/KOG3787 epestfind swissprot:EAA2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:EAA2_HUMAN garnier swissprot:EAA2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:EAA2_HUMAN helixturnhelix swissprot:EAA2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:EAA2_HUMAN hmoment swissprot:EAA2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:EAA2_HUMAN iep swissprot:EAA2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:EAA2_HUMAN inforesidue swissprot:EAA2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:EAA2_HUMAN neXtProt NX_P43004 http://www.nextprot.org/db/entry/NX_P43004 octanol swissprot:EAA2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:EAA2_HUMAN pepcoil swissprot:EAA2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:EAA2_HUMAN pepdigest swissprot:EAA2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:EAA2_HUMAN pepinfo swissprot:EAA2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:EAA2_HUMAN pepnet swissprot:EAA2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:EAA2_HUMAN pepstats swissprot:EAA2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:EAA2_HUMAN pepwheel swissprot:EAA2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:EAA2_HUMAN pepwindow swissprot:EAA2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:EAA2_HUMAN sigcleave swissprot:EAA2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:EAA2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S22A5_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=O76082-1; Sequence=Displayed; Name=2; IsoId=O76082-2; Sequence=VSP_011120, VSP_011121; Note=No experimental confirmation available.; Name=3; Synonyms=OCTN2VT; IsoId=O76082-3; Sequence=VSP_043904; Note=Retained in the ER, unable to perform carnitine uptake.; # AltName S22A5_HUMAN High-affinity sodium-dependent carnitine cotransporter # AltName S22A5_HUMAN Organic cation/carnitine transporter 2 # BioGrid 112471 5 # CCDS CCDS4154 -. [O76082-1] # CCDS CCDS78058 -. [O76082-3] # CDD cd06174 MFS # DISEASE S22A5_HUMAN Systemic primary carnitine deficiency (CDSP) [MIM 212140] Autosomal recessive disorder of fatty acid oxidation caused by defective carnitine transport. Present early in life with hypoketotic hypoglycemia and acute metabolic decompensation, or later in life with skeletal myopathy or cardiomyopathy. {ECO 0000269|PubMed 10072434, ECO 0000269|PubMed 10425211, ECO 0000269|PubMed 10480371, ECO 0000269|PubMed 10545605, ECO 0000269|PubMed 10612840, ECO 0000269|PubMed 10679939, ECO 0000269|PubMed 11058897, ECO 0000269|PubMed 11715001, ECO 0000269|PubMed 15617188, ECO 0000269|PubMed 15714519, ECO 0000269|PubMed 17126586, ECO 0000269|PubMed 20027113, ECO 0000269|PubMed 20074989, ECO 0000269|PubMed 20574985, ECO 0000269|PubMed 21922592}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DrugBank DB00122 Choline # DrugBank DB00125 L-Arginine # DrugBank DB00148 Creatine # DrugBank DB00152 Thiamine # DrugBank DB00182 Amphetamine # DrugBank DB00184 Nicotine # DrugBank DB00281 Lidocaine # DrugBank DB00313 Valproic Acid # DrugBank DB00332 Ipratropium bromide # DrugBank DB00345 Aminohippurate # DrugBank DB00368 Norepinephrine # DrugBank DB00415 Ampicillin # DrugBank DB00438 Ceftazidime # DrugBank DB00456 Cefalotin # DrugBank DB00468 Quinine # DrugBank DB00501 Cimetidine # DrugBank DB00535 Cefdinir # DrugBank DB00536 Guanidine # DrugBank DB00567 Cephalexin # DrugBank DB00575 Clonidine # DrugBank DB00583 L-Carnitine # DrugBank DB00627 Niacin # DrugBank DB00661 Verapamil # DrugBank DB00667 Histamine Phosphate # DrugBank DB00668 Epinephrine # DrugBank DB00671 Cefixime # DrugBank DB00689 Cephaloglycin # DrugBank DB00695 Furosemide # DrugBank DB00908 Quinidine # DrugBank DB00970 Dactinomycin # DrugBank DB00978 Lomefloxacin # DrugBank DB00988 Dopamine # DrugBank DB01000 Cyclacillin # DrugBank DB01032 Probenecid # DrugBank DB01035 Procainamide # DrugBank DB01053 Benzylpenicillin # DrugBank DB01059 Norfloxacin # DrugBank DB01075 Diphenhydramine # DrugBank DB01140 Cefadroxil # DrugBank DB01151 Desipramine # DrugBank DB01165 Ofloxacin # DrugBank DB01208 Sparfloxacin # DrugBank DB01333 Cefradine # DrugBank DB01409 Tiotropium # DrugBank DB01413 Cefepime # DrugBank DB01577 Methamphetamine # DrugBank DB03128 Acetylcholine # DrugBank DB06691 Mepyramine # DrugBank DB08795 Azidocillin # DrugBank DB08842 Acetylcarnitine # Ensembl ENST00000245407 ENSP00000245407; ENSG00000197375. [O76082-1] # Ensembl ENST00000435065 ENSP00000402760; ENSG00000197375. [O76082-3] # ExpressionAtlas O76082 baseline and differential # FUNCTION S22A5_HUMAN Sodium-ion dependent, high affinity carnitine transporter. Involved in the active cellular uptake of carnitine. Transports one sodium ion with one molecule of carnitine. Also transports organic cations such as tetraethylammonium (TEA) without the involvement of sodium. Also relative uptake activity ratio of carnitine to TEA is 11.3. {ECO 0000269|PubMed 10454528}. # GO_component GO:0005886 plasma membrane; IC:BHF-UCL. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0016324 apical plasma membrane; IDA:BHF-UCL. # GO_component GO:0031526 brush border membrane; IDA:BHF-UCL. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0005524 ATP binding; IEA:UniProtKB-KW. # GO_function GO:0015226 carnitine transmembrane transporter activity; IDA:BHF-UCL. # GO_function GO:0015238 drug transmembrane transporter activity; IC:BHF-UCL. # GO_function GO:0015293 symporter activity; IEA:UniProtKB-KW. # GO_function GO:0015651 quaternary ammonium group transmembrane transporter activity; IDA:BHF-UCL. # GO_function GO:0030165 PDZ domain binding; IPI:BHF-UCL. # GO_function S22A5_HUMAN GO 0015491 cation cation antiporter activity; IBA GO_Central. # GO_process GO:0006814 sodium ion transport; IEA:UniProtKB-KW. # GO_process GO:0009437 carnitine metabolic process; IBA:GO_Central. # GO_process GO:0015697 quaternary ammonium group transport; IDA:BHF-UCL. # GO_process GO:0015879 carnitine transport; IDA:BHF-UCL. # GO_process GO:0015893 drug transport; IC:BHF-UCL. # GO_process GO:0052106 quorum sensing involved in interaction with host; IMP:BHF-UCL. # GO_process GO:0060731 positive regulation of intestinal epithelial structure maintenance; IMP:BHF-UCL. # GO_process GO:0070715 sodium-dependent organic cation transport; IDA:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0042592 homeostatic process # Genevisible O76082 HS # HGNC HGNC:10969 SLC22A5 # IntAct O76082 5 # InterPro IPR004749 Orgcat_transp/SVOP # InterPro IPR005828 MFS_sugar_transport-like # InterPro IPR005829 Sugar_transporter_CS # InterPro IPR020846 MFS_dom # KEGG_Brite ko02000 Transporters # KEGG_Brite ko02001 Solute carrier family # KEGG_Disease H00286 [Immune system disease] Crohn's disease # KEGG_Disease H00525 [Inherited metabolic disease] Systemic primary carnitine deficiency (CDSP) # KEGG_Disease H01589 [Inherited metabolic disease] Systemic primary carnitine deficiency # MIM 212140 phenotype # MIM 603377 gene # MISCELLANEOUS S22A5_HUMAN Inhibited by emetine, quinidine and verapamil. The IC(50) of emetine is 4.2 uM. Not inhibited by valproic acid. # Organism S22A5_HUMAN Homo sapiens (Human) # Orphanet 158 Systemic primary carnitine deficiency # PIR JW0089 JW0089 # PROSITE PS00216 SUGAR_TRANSPORT_1 # PROSITE PS50850 MFS # Pfam PF00083 Sugar_tr # Proteomes UP000005640 Chromosome 5 # Reactome R-HSA-549127 Organic cation transport # RecName S22A5_HUMAN Solute carrier family 22 member 5 # RefSeq NP_001295051 NM_001308122.1. [O76082-3] # RefSeq NP_003051 NM_003060.3. [O76082-1] # SIMILARITY Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family. {ECO 0000305}. # SUBCELLULAR LOCATION S22A5_HUMAN Membrane {ECO 0000269|PubMed 10679939}; Multi-pass membrane protein {ECO 0000269|PubMed 10679939}. # SUBUNIT Interacts with PDZK1. {ECO 0000250}. # SUPFAM SSF103473 SSF103473 # TCDB 2.A.1.19 the major facilitator superfamily (mfs) # TIGRFAMs TIGR00898 2A0119 # TISSUE SPECIFICITY Strongly expressed in kidney, skeletal muscle, heart and placenta. Highly expressed in intestinal cell types affected by Crohn disease, including epithelial cells. Expressed in CD68 macrophage and CD43 T-cells but not in CD20 B-cells. {ECO:0000269|PubMed 10454528}. # UCSC uc003kww human. [O76082-1] # WEB RESOURCE S22A5_HUMAN Name=The SLC22A5 database; URL="http //www.arup.utah.edu/database/OCTN2/OCTN2_welcome.php"; # eggNOG ENOG410IRIE Eukaryota # eggNOG ENOG410XSRI LUCA BLAST swissprot:S22A5_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S22A5_HUMAN BioCyc ZFISH:G66-31071-MONOMER http://biocyc.org/getid?id=ZFISH:G66-31071-MONOMER COXPRESdb 6584 http://coxpresdb.jp/data/gene/6584.shtml CleanEx HS_SLC22A5 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC22A5 DOI 10.1002/(SICI)1098-1004(200001)15:1<118::AID-HUMU28>3.0.CO http://dx.doi.org/10.1002/(SICI)1098-1004(200001)15:1<118::AID-HUMU28>3.0.CO DOI 10.1002/(SICI)1098-1004(200003)15:3<238::AID-HUMU4>3.0.CO http://dx.doi.org/10.1002/(SICI)1098-1004(200003)15:3<238::AID-HUMU4>3.0.CO DOI 10.1002/1098-1004(200011)16:5<401::AID-HUMU4>3.0.CO http://dx.doi.org/10.1002/1098-1004(200011)16:5<401::AID-HUMU4>3.0.CO DOI 10.1002/humu.20137 http://dx.doi.org/10.1002/humu.20137 DOI 10.1002/humu.21311 http://dx.doi.org/10.1002/humu.21311 DOI 10.1002/humu.21607 http://dx.doi.org/10.1002/humu.21607 DOI 10.1006/bbrc.1998.8669 http://dx.doi.org/10.1006/bbrc.1998.8669 DOI 10.1006/bbrc.1999.1060 http://dx.doi.org/10.1006/bbrc.1999.1060 DOI 10.1007/s004399900105 http://dx.doi.org/10.1007/s004399900105 DOI 10.1016/j.bbamcr.2007.04.005 http://dx.doi.org/10.1016/j.bbamcr.2007.04.005 DOI 10.1016/j.ymgme.2006.10.003 http://dx.doi.org/10.1016/j.ymgme.2006.10.003 DOI 10.1016/j.ymgme.2009.12.015 http://dx.doi.org/10.1016/j.ymgme.2009.12.015 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1023/B:BOLI.0000045837.23328.f4 http://dx.doi.org/10.1023/B:BOLI.0000045837.23328.f4 DOI 10.1038/5030 http://dx.doi.org/10.1038/5030 DOI 10.1038/nature02919 http://dx.doi.org/10.1038/nature02919 DOI 10.1038/nbt.1532 http://dx.doi.org/10.1038/nbt.1532 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.273.32.20378 http://dx.doi.org/10.1074/jbc.273.32.20378 DOI 10.1074/jbc.274.47.33388 http://dx.doi.org/10.1074/jbc.274.47.33388 DOI 10.1093/hmg/8.12.2247 http://dx.doi.org/10.1093/hmg/8.12.2247 DOI 10.1093/hmg/8.4.655 http://dx.doi.org/10.1093/hmg/8.4.655 DOI 10.1097/00125817-200111000-00002 http://dx.doi.org/10.1097/00125817-200111000-00002 DOI 10.1097/GIM.0b013e3181c5e6f7 http://dx.doi.org/10.1097/GIM.0b013e3181c5e6f7 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1124/mol.106.028126 http://dx.doi.org/10.1124/mol.106.028126 DOI 10.1126/scisignal.2000007 http://dx.doi.org/10.1126/scisignal.2000007 DrugBank DB00122 http://www.drugbank.ca/drugs/DB00122 DrugBank DB00125 http://www.drugbank.ca/drugs/DB00125 DrugBank DB00148 http://www.drugbank.ca/drugs/DB00148 DrugBank DB00152 http://www.drugbank.ca/drugs/DB00152 DrugBank DB00182 http://www.drugbank.ca/drugs/DB00182 DrugBank DB00184 http://www.drugbank.ca/drugs/DB00184 DrugBank DB00281 http://www.drugbank.ca/drugs/DB00281 DrugBank DB00313 http://www.drugbank.ca/drugs/DB00313 DrugBank DB00332 http://www.drugbank.ca/drugs/DB00332 DrugBank DB00345 http://www.drugbank.ca/drugs/DB00345 DrugBank DB00368 http://www.drugbank.ca/drugs/DB00368 DrugBank DB00415 http://www.drugbank.ca/drugs/DB00415 DrugBank DB00438 http://www.drugbank.ca/drugs/DB00438 DrugBank DB00456 http://www.drugbank.ca/drugs/DB00456 DrugBank DB00468 http://www.drugbank.ca/drugs/DB00468 DrugBank DB00501 http://www.drugbank.ca/drugs/DB00501 DrugBank DB00535 http://www.drugbank.ca/drugs/DB00535 DrugBank DB00536 http://www.drugbank.ca/drugs/DB00536 DrugBank DB00567 http://www.drugbank.ca/drugs/DB00567 DrugBank DB00575 http://www.drugbank.ca/drugs/DB00575 DrugBank DB00583 http://www.drugbank.ca/drugs/DB00583 DrugBank DB00627 http://www.drugbank.ca/drugs/DB00627 DrugBank DB00661 http://www.drugbank.ca/drugs/DB00661 DrugBank DB00667 http://www.drugbank.ca/drugs/DB00667 DrugBank DB00668 http://www.drugbank.ca/drugs/DB00668 DrugBank DB00671 http://www.drugbank.ca/drugs/DB00671 DrugBank DB00689 http://www.drugbank.ca/drugs/DB00689 DrugBank DB00695 http://www.drugbank.ca/drugs/DB00695 DrugBank DB00908 http://www.drugbank.ca/drugs/DB00908 DrugBank DB00970 http://www.drugbank.ca/drugs/DB00970 DrugBank DB00978 http://www.drugbank.ca/drugs/DB00978 DrugBank DB00988 http://www.drugbank.ca/drugs/DB00988 DrugBank DB01000 http://www.drugbank.ca/drugs/DB01000 DrugBank DB01032 http://www.drugbank.ca/drugs/DB01032 DrugBank DB01035 http://www.drugbank.ca/drugs/DB01035 DrugBank DB01053 http://www.drugbank.ca/drugs/DB01053 DrugBank DB01059 http://www.drugbank.ca/drugs/DB01059 DrugBank DB01075 http://www.drugbank.ca/drugs/DB01075 DrugBank DB01140 http://www.drugbank.ca/drugs/DB01140 DrugBank DB01151 http://www.drugbank.ca/drugs/DB01151 DrugBank DB01165 http://www.drugbank.ca/drugs/DB01165 DrugBank DB01208 http://www.drugbank.ca/drugs/DB01208 DrugBank DB01333 http://www.drugbank.ca/drugs/DB01333 DrugBank DB01409 http://www.drugbank.ca/drugs/DB01409 DrugBank DB01413 http://www.drugbank.ca/drugs/DB01413 DrugBank DB01577 http://www.drugbank.ca/drugs/DB01577 DrugBank DB03128 http://www.drugbank.ca/drugs/DB03128 DrugBank DB06691 http://www.drugbank.ca/drugs/DB06691 DrugBank DB08795 http://www.drugbank.ca/drugs/DB08795 DrugBank DB08842 http://www.drugbank.ca/drugs/DB08842 EMBL AB015050 http://www.ebi.ac.uk/ena/data/view/AB015050 EMBL AB016625 http://www.ebi.ac.uk/ena/data/view/AB016625 EMBL AB291606 http://www.ebi.ac.uk/ena/data/view/AB291606 EMBL AC118464 http://www.ebi.ac.uk/ena/data/view/AC118464 EMBL AF057164 http://www.ebi.ac.uk/ena/data/view/AF057164 EMBL AK128610 http://www.ebi.ac.uk/ena/data/view/AK128610 EMBL AK313230 http://www.ebi.ac.uk/ena/data/view/AK313230 EMBL BC012325 http://www.ebi.ac.uk/ena/data/view/BC012325 EMBL CH471062 http://www.ebi.ac.uk/ena/data/view/CH471062 EMBL CH471062 http://www.ebi.ac.uk/ena/data/view/CH471062 Ensembl ENST00000245407 http://www.ensembl.org/id/ENST00000245407 Ensembl ENST00000435065 http://www.ensembl.org/id/ENST00000435065 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:0031526 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031526 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0015226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015226 GO_function GO:0015238 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015238 GO_function GO:0015293 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015293 GO_function GO:0015491 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015491 GO_function GO:0015651 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015651 GO_function GO:0030165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030165 GO_process GO:0006814 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006814 GO_process GO:0009437 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009437 GO_process GO:0015697 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015697 GO_process GO:0015879 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015879 GO_process GO:0015893 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015893 GO_process GO:0052106 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0052106 GO_process GO:0060731 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060731 GO_process GO:0070715 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070715 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GeneCards SLC22A5 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC22A5 GeneID 6584 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6584 GeneTree ENSGT00760000118852 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118852 HGNC HGNC:10969 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10969 HOGENOM HOG000234570 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000234570&db=HOGENOM6 HOVERGEN HBG061545 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG061545&db=HOVERGEN HPA HPA066969 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA066969 InParanoid O76082 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O76082 IntAct O76082 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O76082* InterPro IPR004749 http://www.ebi.ac.uk/interpro/entry/IPR004749 InterPro IPR005828 http://www.ebi.ac.uk/interpro/entry/IPR005828 InterPro IPR005829 http://www.ebi.ac.uk/interpro/entry/IPR005829 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 6584 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6584 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Disease H00286 http://www.genome.jp/dbget-bin/www_bget?H00286 KEGG_Disease H00525 http://www.genome.jp/dbget-bin/www_bget?H00525 KEGG_Disease H01589 http://www.genome.jp/dbget-bin/www_bget?H01589 KEGG_Gene hsa:6584 http://www.genome.jp/dbget-bin/www_bget?hsa:6584 KEGG_Orthology KO:K08202 http://www.genome.jp/dbget-bin/www_bget?KO:K08202 MIM 212140 http://www.ncbi.nlm.nih.gov/omim/212140 MIM 603377 http://www.ncbi.nlm.nih.gov/omim/603377 OMA TRNIRMI http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=TRNIRMI Orphanet 158 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=158 OrthoDB EOG091G05AC http://cegg.unige.ch/orthodb/results?searchtext=EOG091G05AC PROSITE PS00216 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00216 PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PSORT swissprot:S22A5_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S22A5_HUMAN PSORT-B swissprot:S22A5_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S22A5_HUMAN PSORT2 swissprot:S22A5_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S22A5_HUMAN Pfam PF00083 http://pfam.xfam.org/family/PF00083 PharmGKB PA333 http://www.pharmgkb.org/do/serve?objId=PA333&objCls=Gene Phobius swissprot:S22A5_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S22A5_HUMAN PhylomeDB O76082 http://phylomedb.org/?seqid=O76082 ProteinModelPortal O76082 http://www.proteinmodelportal.org/query/uniprot/O76082 PubMed 10072434 http://www.ncbi.nlm.nih.gov/pubmed/10072434 PubMed 10425211 http://www.ncbi.nlm.nih.gov/pubmed/10425211 PubMed 10454528 http://www.ncbi.nlm.nih.gov/pubmed/10454528 PubMed 10480371 http://www.ncbi.nlm.nih.gov/pubmed/10480371 PubMed 10545605 http://www.ncbi.nlm.nih.gov/pubmed/10545605 PubMed 10559218 http://www.ncbi.nlm.nih.gov/pubmed/10559218 PubMed 10612840 http://www.ncbi.nlm.nih.gov/pubmed/10612840 PubMed 10679939 http://www.ncbi.nlm.nih.gov/pubmed/10679939 PubMed 11058897 http://www.ncbi.nlm.nih.gov/pubmed/11058897 PubMed 11715001 http://www.ncbi.nlm.nih.gov/pubmed/11715001 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15372022 http://www.ncbi.nlm.nih.gov/pubmed/15372022 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15617188 http://www.ncbi.nlm.nih.gov/pubmed/15617188 PubMed 15714519 http://www.ncbi.nlm.nih.gov/pubmed/15714519 PubMed 16931768 http://www.ncbi.nlm.nih.gov/pubmed/16931768 PubMed 17126586 http://www.ncbi.nlm.nih.gov/pubmed/17126586 PubMed 17509700 http://www.ncbi.nlm.nih.gov/pubmed/17509700 PubMed 19349973 http://www.ncbi.nlm.nih.gov/pubmed/19349973 PubMed 19690332 http://www.ncbi.nlm.nih.gov/pubmed/19690332 PubMed 20027113 http://www.ncbi.nlm.nih.gov/pubmed/20027113 PubMed 20074989 http://www.ncbi.nlm.nih.gov/pubmed/20074989 PubMed 20574985 http://www.ncbi.nlm.nih.gov/pubmed/20574985 PubMed 21922592 http://www.ncbi.nlm.nih.gov/pubmed/21922592 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 9618255 http://www.ncbi.nlm.nih.gov/pubmed/9618255 PubMed 9685390 http://www.ncbi.nlm.nih.gov/pubmed/9685390 PubMed 9916797 http://www.ncbi.nlm.nih.gov/pubmed/9916797 Reactome R-HSA-549127 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-549127 RefSeq NP_001295051 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001295051 RefSeq NP_003051 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_003051 STRING 9606.ENSP00000245407 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000245407&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.1.19 http://www.tcdb.org/search/result.php?tc=2.A.1.19 TIGRFAMs TIGR00898 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00898 UCSC uc003kww http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003kww&org=rat UniGene Hs.443572 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.443572 UniProtKB S22A5_HUMAN http://www.uniprot.org/uniprot/S22A5_HUMAN UniProtKB-AC O76082 http://www.uniprot.org/uniprot/O76082 charge swissprot:S22A5_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S22A5_HUMAN eggNOG ENOG410IRIE http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IRIE eggNOG ENOG410XSRI http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XSRI epestfind swissprot:S22A5_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S22A5_HUMAN garnier swissprot:S22A5_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S22A5_HUMAN helixturnhelix swissprot:S22A5_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S22A5_HUMAN hmoment swissprot:S22A5_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S22A5_HUMAN iep swissprot:S22A5_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S22A5_HUMAN inforesidue swissprot:S22A5_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S22A5_HUMAN neXtProt NX_O76082 http://www.nextprot.org/db/entry/NX_O76082 octanol swissprot:S22A5_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S22A5_HUMAN pepcoil swissprot:S22A5_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S22A5_HUMAN pepdigest swissprot:S22A5_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S22A5_HUMAN pepinfo swissprot:S22A5_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S22A5_HUMAN pepnet swissprot:S22A5_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S22A5_HUMAN pepstats swissprot:S22A5_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S22A5_HUMAN pepwheel swissprot:S22A5_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S22A5_HUMAN pepwindow swissprot:S22A5_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S22A5_HUMAN sigcleave swissprot:S22A5_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S22A5_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS NUPL2_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=O15504-1; Sequence=Displayed; Name=2; IsoId=O15504-2; Sequence=VSP_016481, VSP_016482; Name=3; IsoId=O15504-3; Sequence=VSP_016480; # AltName NUPL2_HUMAN NLP-1 # AltName NUPL2_HUMAN NUP42 homolog # AltName NUPL2_HUMAN Nucleoporin hCG1 # BioGrid 116278 22 # CCDS CCDS5379 -. [O15504-1] # ChiTaRS NUPL2 human # DOMAIN NUPL2_HUMAN The FG repeats are interaction sites for karyopherins (importins, exportins) and form probably an affinity gradient, guiding the transport proteins unidirectionally with their cargo through the NPC. {ECO 0000250}. # Ensembl ENST00000258742 ENSP00000258742; ENSG00000136243. [O15504-1] # Ensembl ENST00000438012 ENSP00000415511; ENSG00000136243. [O15504-2] # ExpressionAtlas O15504 baseline and differential # FUNCTION NUPL2_HUMAN Required for the export of mRNAs containing poly(A) tails from the nucleus into the cytoplasm. In case of infection by HIV-1, it may participate in the docking of viral Vpr at the nuclear envelope. {ECO 0000269|PubMed 10610322, ECO 0000269|PubMed 16000379}. # GO_component GO:0005634 nucleus; IDA:GO_Central. # GO_component GO:0005643 nuclear pore; IEA:UniProtKB-SubCell. # GO_component GO:0005654 nucleoplasm; IDA:HPA. # GO_component GO:0005737 cytoplasm; IDA:HPA. # GO_component GO:0005829 cytosol; TAS:Reactome. # GO_component GO:0031965 nuclear membrane; IEA:UniProtKB-SubCell. # GO_function GO:0005049 nuclear export signal receptor activity; IDA:GO_Central. # GO_function GO:0044822 poly(A) RNA binding; IDA:UniProtKB. # GO_function GO:0046872 metal ion binding; IEA:UniProtKB-KW. # GO_process GO:0006406 mRNA export from nucleus; TAS:Reactome. # GO_process GO:0006409 tRNA export from nucleus; TAS:Reactome. # GO_process GO:0006611 protein export from nucleus; IGI:GO_Central. # GO_process GO:0007077 mitotic nuclear envelope disassembly; TAS:Reactome. # GO_process GO:0010827 regulation of glucose transport; TAS:Reactome. # GO_process GO:0016032 viral process; TAS:Reactome. # GO_process GO:0016925 protein sumoylation; TAS:Reactome. # GO_process GO:0019083 viral transcription; TAS:Reactome. # GO_process GO:0031047 gene silencing by RNA; TAS:Reactome. # GO_process GO:0075733 intracellular transport of virus; TAS:Reactome. # GO_process GO:1900034 regulation of cellular response to heat; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005654 nucleoplasm # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005829 cytosol # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003723 RNA binding # GOslim_function GO:0008565 protein transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006464 cellular protein modification process # GOslim_process GO:0006810 transport # GOslim_process GO:0006913 nucleocytoplasmic transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0044403 symbiosis, encompassing mutualism through parasitism # GOslim_process GO:0061024 membrane organization # Genevisible O15504 HS # HGNC HGNC:17010 NUPL2 # IntAct O15504 18 # InterPro IPR000571 Znf_CCCH # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Pathway ko03013 RNA transport # Organism NUPL2_HUMAN Homo sapiens (Human) # PROSITE PS50103 ZF_C3H1 # PTM NUPL2_HUMAN O-glycosylated. {ECO 0000269|PubMed 10358091}. # Proteomes UP000005640 Chromosome 7 # Reactome R-HSA-1169408 ISG15 antiviral mechanism # Reactome R-HSA-159227 Transport of the SLBP independent Mature mRNA # Reactome R-HSA-159230 Transport of the SLBP Dependant Mature mRNA # Reactome R-HSA-159231 Transport of Mature mRNA Derived from an Intronless Transcript # Reactome R-HSA-159236 Transport of Mature mRNA derived from an Intron-Containing Transcript # Reactome R-HSA-165054 Rev-mediated nuclear export of HIV RNA # Reactome R-HSA-168271 Transport of Ribonucleoproteins into the Host Nucleus # Reactome R-HSA-168276 NS1 Mediated Effects on Host Pathways # Reactome R-HSA-168325 Viral Messenger RNA Synthesis # Reactome R-HSA-168333 NEP/NS2 Interacts with the Cellular Export Machinery # Reactome R-HSA-170822 Regulation of Glucokinase by Glucokinase Regulatory Protein # Reactome R-HSA-180746 Nuclear import of Rev protein # Reactome R-HSA-180910 Vpr-mediated nuclear import of PICs # Reactome R-HSA-191859 snRNP Assembly # Reactome R-HSA-3108214 SUMOylation of DNA damage response and repair proteins # Reactome R-HSA-3301854 Nuclear Pore Complex (NPC) Disassembly # Reactome R-HSA-3371453 Regulation of HSF1-mediated heat shock response # Reactome R-HSA-4570464 SUMOylation of RNA binding proteins # Reactome R-HSA-4615885 SUMOylation of DNA replication proteins # Reactome R-HSA-5578749 Transcriptional regulation by small RNAs # Reactome R-HSA-6784531 tRNA processing in the nucleus # RecName NUPL2_HUMAN Nucleoporin-like protein 2 # RefSeq NP_031368 NM_007342.2. [O15504-1] # SIMILARITY Contains 1 C3H1-type zinc finger. {ECO:0000255|PROSITE-ProRule PRU00723}. # SMART SM00356 ZnF_C3H1 # SUBCELLULAR LOCATION NUPL2_HUMAN Nucleus, nuclear pore complex {ECO 0000269|PubMed 12228227, ECO 0000269|PubMed 16000379}. Nucleus membrane {ECO 0000269|PubMed 12228227, ECO 0000269|PubMed 16000379}; Peripheral membrane protein; Cytoplasmic side {ECO 0000269|PubMed 12228227}. Note=Excluded from the nucleolus. {ECO 0000269|PubMed 10358091}. # SUBUNIT NUPL2_HUMAN Probable component of the nuclear pore complex (NPC). Interacts with nuclear export protein NXF1. Interacts with GLE1. Able to form a heterotrimer with NUP155 and GLE1 in vitro. Interacts with the HIV-1 virus proteins Rev and Vpr. The interaction with HIV-1 Rev, a protein that mediates nuclear export of unspliced viral RNAs, suggests that its function may be bypassed by the HIV-1 virus. {ECO 0000269|PubMed 10228171, ECO 0000269|PubMed 10358091, ECO 0000269|PubMed 12228227, ECO 0000269|PubMed 16000379}. # TCDB 1.I.1.1 the nuclear pore complex (npc) family # TISSUE SPECIFICITY Ubiquitously expressed. {ECO:0000269|PubMed 10358091}. # UCSC uc003svu human. [O15504-1] # eggNOG ENOG410IIH3 Eukaryota # eggNOG ENOG4111HKJ LUCA BLAST swissprot:NUPL2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:NUPL2_HUMAN COXPRESdb 11097 http://coxpresdb.jp/data/gene/11097.shtml CleanEx HS_NUPL2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_NUPL2 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1074/jbc.274.24.17309 http://dx.doi.org/10.1074/jbc.274.24.17309 DOI 10.1074/jbc.M207439200 http://dx.doi.org/10.1074/jbc.M207439200 DOI 10.1091/mbc.E04-11-0998 http://dx.doi.org/10.1091/mbc.E04-11-0998 DOI 10.1093/emboj/18.20.5761 http://dx.doi.org/10.1093/emboj/18.20.5761 DOI 10.1093/emboj/18.9.2593 http://dx.doi.org/10.1093/emboj/18.9.2593 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1083423 http://dx.doi.org/10.1126/science.1083423 DOI 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 EMBL AK298183 http://www.ebi.ac.uk/ena/data/view/AK298183 EMBL BC005327 http://www.ebi.ac.uk/ena/data/view/BC005327 EMBL BC039333 http://www.ebi.ac.uk/ena/data/view/BC039333 EMBL BT007409 http://www.ebi.ac.uk/ena/data/view/BT007409 EMBL CH236948 http://www.ebi.ac.uk/ena/data/view/CH236948 EMBL U97198 http://www.ebi.ac.uk/ena/data/view/U97198 Ensembl ENST00000258742 http://www.ensembl.org/id/ENST00000258742 Ensembl ENST00000438012 http://www.ensembl.org/id/ENST00000438012 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005643 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005643 GO_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0031965 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031965 GO_function GO:0005049 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005049 GO_function GO:0044822 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044822 GO_function GO:0046872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046872 GO_process GO:0006406 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006406 GO_process GO:0006409 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006409 GO_process GO:0006611 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006611 GO_process GO:0007077 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007077 GO_process GO:0010827 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010827 GO_process GO:0016032 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016032 GO_process GO:0016925 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016925 GO_process GO:0019083 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019083 GO_process GO:0031047 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031047 GO_process GO:0075733 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0075733 GO_process GO:1900034 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1900034 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003723 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003723 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006464 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006464 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006913 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006913 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0044403 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044403 GOslim_process GO:0061024 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061024 GeneCards NUPL2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=NUPL2 GeneID 11097 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=11097 GeneTree ENSGT00390000000118 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000000118 HGNC HGNC:17010 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:17010 HOGENOM HOG000113895 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000113895&db=HOGENOM6 HOVERGEN HBG082070 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG082070&db=HOVERGEN HPA HPA049036 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA049036 HPA HPA057251 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA057251 InParanoid O15504 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O15504 IntAct O15504 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O15504* InterPro IPR000571 http://www.ebi.ac.uk/interpro/entry/IPR000571 Jabion 11097 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=11097 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00002 http://www.genome.jp/dbget-bin/www_bget?ko00002 KEGG_Gene hsa:11097 http://www.genome.jp/dbget-bin/www_bget?hsa:11097 KEGG_Orthology KO:K14321 http://www.genome.jp/dbget-bin/www_bget?KO:K14321 KEGG_Pathway ko03013 http://www.genome.jp/kegg-bin/show_pathway?ko03013 MINT MINT-4786853 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-4786853 PROSITE PS50103 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50103 PSORT swissprot:NUPL2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:NUPL2_HUMAN PSORT-B swissprot:NUPL2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:NUPL2_HUMAN PSORT2 swissprot:NUPL2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:NUPL2_HUMAN PharmGKB PA134990469 http://www.pharmgkb.org/do/serve?objId=PA134990469&objCls=Gene Phobius swissprot:NUPL2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:NUPL2_HUMAN PhylomeDB O15504 http://phylomedb.org/?seqid=O15504 ProteinModelPortal O15504 http://www.proteinmodelportal.org/query/uniprot/O15504 PubMed 10228171 http://www.ncbi.nlm.nih.gov/pubmed/10228171 PubMed 10358091 http://www.ncbi.nlm.nih.gov/pubmed/10358091 PubMed 10610322 http://www.ncbi.nlm.nih.gov/pubmed/10610322 PubMed 12228227 http://www.ncbi.nlm.nih.gov/pubmed/12228227 PubMed 12690205 http://www.ncbi.nlm.nih.gov/pubmed/12690205 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16000379 http://www.ncbi.nlm.nih.gov/pubmed/16000379 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 9450185 http://www.ncbi.nlm.nih.gov/pubmed/9450185 Reactome R-HSA-1169408 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1169408 Reactome R-HSA-159227 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-159227 Reactome R-HSA-159230 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-159230 Reactome R-HSA-159231 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-159231 Reactome R-HSA-159236 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-159236 Reactome R-HSA-165054 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-165054 Reactome R-HSA-168271 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-168271 Reactome R-HSA-168276 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-168276 Reactome R-HSA-168325 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-168325 Reactome R-HSA-168333 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-168333 Reactome R-HSA-170822 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-170822 Reactome R-HSA-180746 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-180746 Reactome R-HSA-180910 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-180910 Reactome R-HSA-191859 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-191859 Reactome R-HSA-3108214 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-3108214 Reactome R-HSA-3301854 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-3301854 Reactome R-HSA-3371453 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-3371453 Reactome R-HSA-4570464 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-4570464 Reactome R-HSA-4615885 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-4615885 Reactome R-HSA-5578749 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5578749 Reactome R-HSA-6784531 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6784531 RefSeq NP_031368 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_031368 SMART SM00356 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00356 SMR O15504 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=O15504 STRING 9606.ENSP00000258742 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000258742&targetmode=cogs TCDB 1.I.1.1 http://www.tcdb.org/search/result.php?tc=1.I.1.1 UCSC uc003svu http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003svu&org=rat UniGene Hs.408241 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.408241 UniProtKB NUPL2_HUMAN http://www.uniprot.org/uniprot/NUPL2_HUMAN UniProtKB-AC O15504 http://www.uniprot.org/uniprot/O15504 charge swissprot:NUPL2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:NUPL2_HUMAN eggNOG ENOG410IIH3 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IIH3 eggNOG ENOG4111HKJ http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111HKJ epestfind swissprot:NUPL2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:NUPL2_HUMAN garnier swissprot:NUPL2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:NUPL2_HUMAN helixturnhelix swissprot:NUPL2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:NUPL2_HUMAN hmoment swissprot:NUPL2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:NUPL2_HUMAN iep swissprot:NUPL2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:NUPL2_HUMAN inforesidue swissprot:NUPL2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:NUPL2_HUMAN neXtProt NX_O15504 http://www.nextprot.org/db/entry/NX_O15504 octanol swissprot:NUPL2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:NUPL2_HUMAN pepcoil swissprot:NUPL2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:NUPL2_HUMAN pepdigest swissprot:NUPL2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:NUPL2_HUMAN pepinfo swissprot:NUPL2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:NUPL2_HUMAN pepnet swissprot:NUPL2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:NUPL2_HUMAN pepstats swissprot:NUPL2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:NUPL2_HUMAN pepwheel swissprot:NUPL2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:NUPL2_HUMAN pepwindow swissprot:NUPL2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:NUPL2_HUMAN sigcleave swissprot:NUPL2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:NUPL2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS SCN3A_HUMAN Event=Alternative splicing; Named isoforms=4; Comment=Exons 6A and 6N only differ by a single residue.; Name=1; Synonyms=6A-12+12b; IsoId=Q9NY46-1; Sequence=Displayed; Name=2; Synonyms=6A-12; IsoId=Q9NY46-2; Sequence=VSP_001034; Name=3; Synonyms=6N-12+12b; IsoId=Q9NY46-3; Sequence=VSP_001033; Name=4; Synonyms=6N-12; IsoId=Q9NY46-4; Sequence=VSP_001033, VSP_001034; # AltName SCN3A_HUMAN Sodium channel protein brain III subunit alpha # AltName SCN3A_HUMAN Sodium channel protein type III subunit alpha # AltName SCN3A_HUMAN Voltage-gated sodium channel subtype III # AltName SCN3A_HUMAN Voltage-gated sodium channel subunit alpha Nav1.3 # BioGrid 112233 6 # CCDS CCDS33312 -. [Q9NY46-3] # CCDS CCDS46440 -. [Q9NY46-2] # ChiTaRS SCN3A human # DOMAIN SCN3A_HUMAN The sequence contains 4 internal repeats, each with 5 hydrophobic segments (S1,S2,S3,S5,S6) and one positively charged segment (S4). Segments S4 are probably the voltage-sensors and are characterized by a series of positively charged amino acids at every third position. # DrugBank DB00313 Valproic Acid # DrugBank DB00909 Zonisamide # DrugBank DB06218 Lacosamide # Ensembl ENST00000283254 ENSP00000283254; ENSG00000153253. [Q9NY46-3] # Ensembl ENST00000360093 ENSP00000353206; ENSG00000153253. [Q9NY46-1] # Ensembl ENST00000409101 ENSP00000386726; ENSG00000153253. [Q9NY46-2] # ExpressionAtlas Q9NY46 baseline and differential # FUNCTION SCN3A_HUMAN Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient. # GO_component GO:0001518 voltage-gated sodium channel complex; IEA:InterPro. # GO_component GO:0005737 cytoplasm; IEA:Ensembl. # GO_component GO:0005886 plasma membrane; IBA:GO_Central. # GO_function GO:0005248 voltage-gated sodium channel activity; NAS:UniProtKB. # GO_process GO:0006814 sodium ion transport; NAS:UniProtKB. # GO_process GO:0019228 neuronal action potential; IBA:GO_Central. # GO_process GO:0086010 membrane depolarization during action potential; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # Gene3D 1.20.120.350 -; 4. # Genevisible Q9NY46 HS # HGNC HGNC:10590 SCN3A # IntAct Q9NY46 2 # InterPro IPR000048 IQ_motif_EF-hand-BS # InterPro IPR001696 Na_channel_asu # InterPro IPR005821 Ion_trans_dom # InterPro IPR010526 Na_trans_assoc # InterPro IPR024583 Na_trans_cytopl # InterPro IPR027359 Channel_four-helix_dom # KEGG_Brite ko04040 Ion channels # MIM 182391 gene # Organism SCN3A_HUMAN Homo sapiens (Human) # PIR A54937 A54937 # PRINTS PR00170 NACHANNEL # PROSITE PS50096 IQ # PTM SCN3A_HUMAN May be ubiquitinated by NEDD4L; which would promote its endocytosis. # PTM SCN3A_HUMAN Phosphorylation at Ser-1501 by PKC in a highly conserved cytoplasmic loop slows inactivation of the sodium channel and reduces peak sodium currents. {ECO 0000250}. # Pfam PF00520 Ion_trans; 4 # Pfam PF06512 Na_trans_assoc # Pfam PF11933 Na_trans_cytopl # Proteomes UP000005640 Chromosome 2 # Reactome R-HSA-445095 Interaction between L1 and Ankyrins # Reactome R-HSA-5576892 Phase 0 - rapid depolarisation # RecName SCN3A_HUMAN Sodium channel protein type 3 subunit alpha # RefSeq NP_001075145 NM_001081676.1. [Q9NY46-4] # RefSeq NP_001075146 NM_001081677.1. [Q9NY46-2] # RefSeq NP_008853 NM_006922.3. [Q9NY46-3] # RefSeq XP_011509912 XM_011511610.2. [Q9NY46-3] # RefSeq XP_016860149 XM_017004660.1. [Q9NY46-1] # SIMILARITY Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.3/SCN3A subfamily. {ECO 0000305}. # SIMILARITY Contains 1 IQ domain. {ECO:0000255|PROSITE- ProRule PRU00116}. # SUBCELLULAR LOCATION SCN3A_HUMAN Cell membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # SUBUNIT The sodium channel consists of a large polypeptide and 2- 3 smaller ones. This sequence represents a large polypeptide. Interacts with NEDD4L. {ECO:0000269|PubMed 15548568}. # UCSC uc002ucx human. [Q9NY46-1] # eggNOG ENOG410XNP6 LUCA # eggNOG KOG2301 Eukaryota BLAST swissprot:SCN3A_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SCN3A_HUMAN BioCyc ZFISH:ENSG00000153253-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000153253-MONOMER COXPRESdb 6328 http://coxpresdb.jp/data/gene/6328.shtml CleanEx HS_SCN3A http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SCN3A DOI 10.1007/BF02737087 http://dx.doi.org/10.1007/BF02737087 DOI 10.1016/S0378-1119(00)00594-1 http://dx.doi.org/10.1016/S0378-1119(00)00594-1 DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1038/sj.mp.4001241 http://dx.doi.org/10.1038/sj.mp.4001241 DOI 10.1073/pnas.91.8.2975 http://dx.doi.org/10.1073/pnas.91.8.2975 DOI 10.1093/dnares/7.1.65 http://dx.doi.org/10.1093/dnares/7.1.65 DOI 10.1136/jmedgenet-2015-103179 http://dx.doi.org/10.1136/jmedgenet-2015-103179 DOI 10.1152/ajpcell.00460.2004 http://dx.doi.org/10.1152/ajpcell.00460.2004 DrugBank DB00313 http://www.drugbank.ca/drugs/DB00313 DrugBank DB00909 http://www.drugbank.ca/drugs/DB00909 DrugBank DB06218 http://www.drugbank.ca/drugs/DB06218 EMBL AB037777 http://www.ebi.ac.uk/ena/data/view/AB037777 EMBL AC013463 http://www.ebi.ac.uk/ena/data/view/AC013463 EMBL AF035685 http://www.ebi.ac.uk/ena/data/view/AF035685 EMBL AF035686 http://www.ebi.ac.uk/ena/data/view/AF035686 EMBL AF225987 http://www.ebi.ac.uk/ena/data/view/AF225987 EMBL AF239921 http://www.ebi.ac.uk/ena/data/view/AF239921 EMBL AF330118 http://www.ebi.ac.uk/ena/data/view/AF330118 EMBL AF330118 http://www.ebi.ac.uk/ena/data/view/AF330118 EMBL AF330119 http://www.ebi.ac.uk/ena/data/view/AF330119 EMBL AF330119 http://www.ebi.ac.uk/ena/data/view/AF330119 EMBL AF330120 http://www.ebi.ac.uk/ena/data/view/AF330120 EMBL AF330120 http://www.ebi.ac.uk/ena/data/view/AF330120 EMBL AF330121 http://www.ebi.ac.uk/ena/data/view/AF330121 EMBL AF330121 http://www.ebi.ac.uk/ena/data/view/AF330121 EMBL AF330122 http://www.ebi.ac.uk/ena/data/view/AF330122 EMBL AF330122 http://www.ebi.ac.uk/ena/data/view/AF330122 EMBL AF330123 http://www.ebi.ac.uk/ena/data/view/AF330123 EMBL AF330123 http://www.ebi.ac.uk/ena/data/view/AF330123 EMBL AF330124 http://www.ebi.ac.uk/ena/data/view/AF330124 EMBL AF330124 http://www.ebi.ac.uk/ena/data/view/AF330124 EMBL AF330125 http://www.ebi.ac.uk/ena/data/view/AF330125 EMBL AF330125 http://www.ebi.ac.uk/ena/data/view/AF330125 EMBL AF330126 http://www.ebi.ac.uk/ena/data/view/AF330126 EMBL AF330126 http://www.ebi.ac.uk/ena/data/view/AF330126 EMBL AF330127 http://www.ebi.ac.uk/ena/data/view/AF330127 EMBL AF330127 http://www.ebi.ac.uk/ena/data/view/AF330127 EMBL AF330128 http://www.ebi.ac.uk/ena/data/view/AF330128 EMBL AF330128 http://www.ebi.ac.uk/ena/data/view/AF330128 EMBL AF330129 http://www.ebi.ac.uk/ena/data/view/AF330129 EMBL AF330129 http://www.ebi.ac.uk/ena/data/view/AF330129 EMBL AF330130 http://www.ebi.ac.uk/ena/data/view/AF330130 EMBL AF330130 http://www.ebi.ac.uk/ena/data/view/AF330130 EMBL AF330131 http://www.ebi.ac.uk/ena/data/view/AF330131 EMBL AF330131 http://www.ebi.ac.uk/ena/data/view/AF330131 EMBL AF330132 http://www.ebi.ac.uk/ena/data/view/AF330132 EMBL AF330132 http://www.ebi.ac.uk/ena/data/view/AF330132 EMBL AF330133 http://www.ebi.ac.uk/ena/data/view/AF330133 EMBL AF330133 http://www.ebi.ac.uk/ena/data/view/AF330133 EMBL AF330134 http://www.ebi.ac.uk/ena/data/view/AF330134 EMBL AF330134 http://www.ebi.ac.uk/ena/data/view/AF330134 EMBL AF330135 http://www.ebi.ac.uk/ena/data/view/AF330135 EMBL AF330135 http://www.ebi.ac.uk/ena/data/view/AF330135 EMBL AJ251507 http://www.ebi.ac.uk/ena/data/view/AJ251507 EMBL S69887 http://www.ebi.ac.uk/ena/data/view/S69887 Ensembl ENST00000283254 http://www.ensembl.org/id/ENST00000283254 Ensembl ENST00000360093 http://www.ensembl.org/id/ENST00000360093 Ensembl ENST00000409101 http://www.ensembl.org/id/ENST00000409101 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0001518 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001518 GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_function GO:0005248 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005248 GO_process GO:0006814 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006814 GO_process GO:0019228 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019228 GO_process GO:0086010 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086010 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 Gene3D 1.20.120.350 http://www.cathdb.info/version/latest/superfamily/1.20.120.350 GeneCards SCN3A http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SCN3A GeneID 6328 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6328 GeneTree ENSGT00830000128242 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00830000128242 HGNC HGNC:10590 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10590 HOVERGEN HBG053100 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG053100&db=HOVERGEN HPA HPA035396 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA035396 InParanoid Q9NY46 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9NY46 IntAct Q9NY46 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9NY46* InterPro IPR000048 http://www.ebi.ac.uk/interpro/entry/IPR000048 InterPro IPR001696 http://www.ebi.ac.uk/interpro/entry/IPR001696 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR010526 http://www.ebi.ac.uk/interpro/entry/IPR010526 InterPro IPR024583 http://www.ebi.ac.uk/interpro/entry/IPR024583 InterPro IPR027359 http://www.ebi.ac.uk/interpro/entry/IPR027359 Jabion 6328 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6328 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:6328 http://www.genome.jp/dbget-bin/www_bget?hsa:6328 KEGG_Orthology KO:K04836 http://www.genome.jp/dbget-bin/www_bget?KO:K04836 MIM 182391 http://www.ncbi.nlm.nih.gov/omim/182391 MINT MINT-8330038 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-8330038 OMA YFNGTMD http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=YFNGTMD OrthoDB EOG091G00FK http://cegg.unige.ch/orthodb/results?searchtext=EOG091G00FK PRINTS PR00170 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00170 PROSITE PS50096 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50096 PSORT swissprot:SCN3A_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SCN3A_HUMAN PSORT-B swissprot:SCN3A_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SCN3A_HUMAN PSORT2 swissprot:SCN3A_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SCN3A_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF06512 http://pfam.xfam.org/family/PF06512 Pfam PF11933 http://pfam.xfam.org/family/PF11933 PharmGKB PA35005 http://www.pharmgkb.org/do/serve?objId=PA35005&objCls=Gene Phobius swissprot:SCN3A_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SCN3A_HUMAN PhylomeDB Q9NY46 http://phylomedb.org/?seqid=Q9NY46 ProteinModelPortal Q9NY46 http://www.proteinmodelportal.org/query/uniprot/Q9NY46 PubMed 10718198 http://www.ncbi.nlm.nih.gov/pubmed/10718198 PubMed 11245985 http://www.ncbi.nlm.nih.gov/pubmed/11245985 PubMed 12610651 http://www.ncbi.nlm.nih.gov/pubmed/12610651 PubMed 15548568 http://www.ncbi.nlm.nih.gov/pubmed/15548568 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 PubMed 26566883 http://www.ncbi.nlm.nih.gov/pubmed/26566883 PubMed 8159690 http://www.ncbi.nlm.nih.gov/pubmed/8159690 PubMed 9589372 http://www.ncbi.nlm.nih.gov/pubmed/9589372 Reactome R-HSA-445095 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-445095 Reactome R-HSA-5576892 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576892 RefSeq NP_001075145 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001075145 RefSeq NP_001075146 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001075146 RefSeq NP_008853 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_008853 RefSeq XP_011509912 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011509912 RefSeq XP_016860149 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016860149 STRING 9606.ENSP00000283254 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000283254&targetmode=cogs UCSC uc002ucx http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002ucx&org=rat UniGene Hs.435274 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.435274 UniProtKB SCN3A_HUMAN http://www.uniprot.org/uniprot/SCN3A_HUMAN UniProtKB-AC Q9NY46 http://www.uniprot.org/uniprot/Q9NY46 charge swissprot:SCN3A_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SCN3A_HUMAN eggNOG ENOG410XNP6 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XNP6 eggNOG KOG2301 http://eggnogapi.embl.de/nog_data/html/tree/KOG2301 epestfind swissprot:SCN3A_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SCN3A_HUMAN garnier swissprot:SCN3A_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SCN3A_HUMAN helixturnhelix swissprot:SCN3A_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SCN3A_HUMAN hmoment swissprot:SCN3A_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SCN3A_HUMAN iep swissprot:SCN3A_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SCN3A_HUMAN inforesidue swissprot:SCN3A_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SCN3A_HUMAN neXtProt NX_Q9NY46 http://www.nextprot.org/db/entry/NX_Q9NY46 octanol swissprot:SCN3A_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SCN3A_HUMAN pepcoil swissprot:SCN3A_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SCN3A_HUMAN pepdigest swissprot:SCN3A_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SCN3A_HUMAN pepinfo swissprot:SCN3A_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SCN3A_HUMAN pepnet swissprot:SCN3A_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SCN3A_HUMAN pepstats swissprot:SCN3A_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SCN3A_HUMAN pepwheel swissprot:SCN3A_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SCN3A_HUMAN pepwindow swissprot:SCN3A_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SCN3A_HUMAN sigcleave swissprot:SCN3A_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SCN3A_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS ZDH17_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q8IUH5-1; Sequence=Displayed; Name=2; IsoId=Q8IUH5-2; Sequence=VSP_010021, VSP_010022, VSP_010024, VSP_010025; Name=3; IsoId=Q8IUH5-3; Sequence=VSP_010023; Note=No experimental confirmation available.; # AltName Huntingtin yeast partner H {ECO:0000303|PubMed 9700202} # AltName Huntingtin-interacting protein 14 {ECO:0000303|PubMed 15489887} # AltName Huntingtin-interacting protein 3 {ECO:0000312|EMBL BAC22089.1} # AltName Huntingtin-interacting protein H {ECO:0000303|PubMed 9700202} # AltName Putative MAPK-activating protein PM11 {ECO:0000305|PubMed 12761501} # AltName Putative NF-kappa-B-activating protein 205 {ECO:0000305|PubMed 12761501} # AltName Zinc finger DHHC domain-containing protein 17 {ECO:0000312|HGNC HGNC:18412} # BRENDA 2.3.1.225 2681 # BioGrid 116965 241 # CATALYTIC ACTIVITY ZDH17_HUMAN Palmitoyl-CoA + [protein]-L-cysteine = [protein]-S-palmitoyl-L-cysteine + CoA. {ECO 0000269|PubMed 15489887, ECO 0000269|PubMed 15603740}. # CCDS CCDS44946 -. [Q8IUH5-1] # ChiTaRS ZDHHC17 human # DOMAIN ZDH17_HUMAN The DHHC domain is required for palmitoyltransferase activity. {ECO 0000269|PubMed 15603740}. # Ensembl ENST00000426126 ENSP00000403397; ENSG00000186908. [Q8IUH5-1] # ExpressionAtlas Q8IUH5 baseline and differential # FUNCTION ZDH17_HUMAN Palmitoyltransferase specific for a subset of neuronal proteins, including SNAP25, DLG4/PSD95, GAD2, SYT1 and HD (PubMed 15603740, PubMed 15489887, PubMed 19139280). Palmitoylates MPP1 in erythrocytes (PubMed 22496366). May be involved in the sorting or targeting of critical proteins involved in the initiating events of endocytosis at the plasma membrane (PubMed 12393793). May play a role in Mg(2+) transport (PubMed 18794299). {ECO 0000269|PubMed 12393793, ECO 0000269|PubMed 15489887, ECO 0000269|PubMed 15603740, ECO 0000269|PubMed 18794299, ECO 0000269|PubMed 19139280, ECO 0000269|PubMed 22496366}. # GO_component GO:0000139 Golgi membrane; IDA:UniProtKB. # GO_component GO:0005737 cytoplasm; IDA:HPA. # GO_component GO:0005794 Golgi apparatus; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0030659 cytoplasmic vesicle membrane; IEA:UniProtKB-SubCell. # GO_component GO:0030660 Golgi-associated vesicle membrane; IDA:UniProtKB. # GO_component GO:0042734 presynaptic membrane; IEA:UniProtKB-SubCell. # GO_component GO:0043231 intracellular membrane-bounded organelle; IDA:HPA. # GO_function GO:0004871 signal transducer activity; IMP:UniProtKB. # GO_function GO:0008270 zinc ion binding; IEA:InterPro. # GO_function GO:0015095 magnesium ion transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0016409 palmitoyltransferase activity; IDA:UniProtKB. # GO_function GO:0019706 protein-cysteine S-palmitoyltransferase activity; IDA:UniProtKB. # GO_function GO:0042802 identical protein binding; IPI:IntAct. # GO_process GO:0018345 protein palmitoylation; IDA:UniProtKB. # GO_process GO:0042953 lipoprotein transport; IDA:UniProtKB. # GO_process GO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling; IMP:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005794 Golgi apparatus # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0016746 transferase activity, transferring acyl groups # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006464 cellular protein modification process # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # Gene3D 1.25.40.20 -; 1. # Genevisible Q8IUH5 HS # HGNC HGNC:18412 ZDHHC17 # INTERACTION ZDH17_HUMAN Self; NbExp=6; IntAct=EBI-524753, EBI-524753; Q7Z783 -; NbExp=3; IntAct=EBI-524753, EBI-9088990; Q7Z5R6 APBB1IP; NbExp=2; IntAct=EBI-524753, EBI-2818084; Q9NP61 ARFGAP3; NbExp=2; IntAct=EBI-524753, EBI-2875816; P15336 ATF2; NbExp=3; IntAct=EBI-524753, EBI-1170906; Q9UQB8-3 BAIAP2; NbExp=3; IntAct=EBI-524753, EBI-9091996; Q9UQB8-6 BAIAP2; NbExp=2; IntAct=EBI-524753, EBI-9092016; P17655 CAPN2; NbExp=2; IntAct=EBI-524753, EBI-1028956; Q96GN5-2 CDCA7L; NbExp=2; IntAct=EBI-524753, EBI-9091443; P48730-2 CSNK1D; NbExp=3; IntAct=EBI-524753, EBI-9087876; P68104 EEF1A1; NbExp=2; IntAct=EBI-524753, EBI-352162; P60228 EIF3E; NbExp=2; IntAct=EBI-524753, EBI-347740; Q9UI08-2 EVL; NbExp=2; IntAct=EBI-524753, EBI-6448852; Q9UHY8 FEZ2; NbExp=4; IntAct=EBI-524753, EBI-396453; Q08379 GOLGA2; NbExp=3; IntAct=EBI-524753, EBI-618309; Q9H4A5 GOLPH3L; NbExp=2; IntAct=EBI-524753, EBI-4403434; P51674 GPM6A; NbExp=5; IntAct=EBI-524753, EBI-7187133; P49840 GSK3A; NbExp=3; IntAct=EBI-524753, EBI-1044067; P42858 HTT; NbExp=12; IntAct=EBI-524753, EBI-466029; Q8IY31-3 IFT20; NbExp=3; IntAct=EBI-524753, EBI-9091197; Q9NWB7 IFT57; NbExp=2; IntAct=EBI-524753, EBI-725672; O60259 KLK8; NbExp=3; IntAct=EBI-524753, EBI-3915857; Q14847-2 LASP1; NbExp=3; IntAct=EBI-524753, EBI-9088686; Q96CV9-2 OPTN; NbExp=2; IntAct=EBI-524753, EBI-9091423; Q08499-8 PDE4D; NbExp=2; IntAct=EBI-524753, EBI-9090666; O15530-4 PDPK1; NbExp=3; IntAct=EBI-524753, EBI-9087775; P27986-2 PIK3R1; NbExp=2; IntAct=EBI-524753, EBI-9090282; Q9UF11-4 PLEKHB1; NbExp=4; IntAct=EBI-524753, EBI-9089825; Q16537 PPP2R5E; NbExp=2; IntAct=EBI-524753, EBI-968374; Q96DA2 RAB39B; NbExp=3; IntAct=EBI-524753, EBI-9089467; Q15047-2 SETDB1; NbExp=3; IntAct=EBI-524753, EBI-9090795; Q8IVB4 SLC9A9; NbExp=2; IntAct=EBI-524753, EBI-9092184; O00161 SNAP23; NbExp=4; IntAct=EBI-524753, EBI-745000; P60880 SNAP25; NbExp=3; IntAct=EBI-524753, EBI-524785; Q7Z699 SPRED1; NbExp=3; IntAct=EBI-524753, EBI-5235340; Q7Z698 SPRED2; NbExp=3; IntAct=EBI-524753, EBI-7082156; O43597 SPRY2; NbExp=3; IntAct=EBI-524753, EBI-742487; Q9C004 SPRY4; NbExp=2; IntAct=EBI-524753, EBI-354861; Q8NFA0 USP32; NbExp=2; IntAct=EBI-524753, EBI-2511075; Q9Y6W5 WASF2; NbExp=2; IntAct=EBI-524753, EBI-4290615; # IntAct Q8IUH5 226 # InterPro IPR001594 Znf_DHHC_palmitoyltrfase # InterPro IPR002110 Ankyrin_rpt # InterPro IPR020683 Ankyrin_rpt-contain_dom # InterPro IPR030289 ZDHHC17 # MIM 607799 gene # Organism ZDH17_HUMAN Homo sapiens (Human) # PANTHER PTHR24161:SF18 PTHR24161:SF18 # PDB 3EU9 X-ray; 1.99 A; A/B/C=51-288 # PRINTS PR01415 ANKYRIN # PROSITE PS50088 ANK_REPEAT; 5 # PROSITE PS50216 DHHC # PROSITE PS50297 ANK_REP_REGION # PTM ZDH17_HUMAN Autopalmitoylated (PubMed 15603740, PubMed 18794299). Autopalmitoylation has a regulatory role in ZDHHC17-mediated Mg(2+) transport (PubMed 18794299). {ECO 0000269|PubMed 15603740, ECO 0000269|PubMed 18794299}. # Pfam PF01529 zf-DHHC # Pfam PF12796 Ank_2; 2 # Proteomes UP000005640 Chromosome 12 # RecName Palmitoyltransferase ZDHHC17 {ECO 0000305} # RefSeq NP_056151 NM_015336.2. [Q8IUH5-1] # SEQUENCE CAUTION ZDH17_HUMAN Sequence=AAF28972.1; Type=Frameshift; Positions=183, 191; Evidence={ECO 0000305}; Sequence=AAH30990.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO 0000305}; Sequence=BAA76790.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO 0000305}; Sequence=BAC77366.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; Sequence=BAC77388.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the DHHC palmitoyltransferase family. AKR/ZDHHC17 subfamily. {ECO 0000305}. # SIMILARITY Contains 1 DHHC domain. {ECO:0000255|PROSITE- ProRule PRU00067}. # SIMILARITY ZDH17_HUMAN Contains 7 ANK repeats. {ECO 0000255|PROSITE- ProRule PRU00023, ECO 0000305|PubMed 25547411}. # SMART SM00248 ANK; 5 # SUBCELLULAR LOCATION ZDH17_HUMAN Golgi apparatus membrane {ECO 0000269|PubMed 15603740, ECO 0000269|PubMed 18794299}; Multi- pass membrane protein {ECO 0000255}. Cytoplasmic vesicle membrane {ECO 0000269|PubMed 18794299}; Multi-pass membrane protein {ECO 0000255}. Cell junction, synapse, presynaptic cell membrane {ECO 0000269|PubMed 18032660}; Multi-pass membrane protein {ECO 0000255}. Note=Low extracellular Mg(2+) induces increase in Golgi and in post-Golgi membrane vesicles. {ECO 0000269|PubMed 18794299}. # SUBUNIT ZDH17_HUMAN Interacts (via ANK repeats) with CLIP3 (PubMed 26198635). Interacts (via ANK repeats) with HTT; this interaction is inversely correlated to the length of the polyglutamine tract added to the huntingtin protein in Huntington disease (PubMed 12393793, PubMed 9700202, PubMed 26198635). Interacts (via ANK repeats) with DNAJC5 (via C-terminus) (By similarity). Interacts (via ANK repeats) with MAP6 (PubMed 26198635). Interacts (via ANK repeats) with SNAP23 (By similarity). Interacts (via ANK repeats) with SNAP25 (By similarity). {ECO 0000250|UniProtKB Q80TN5, ECO 0000269|PubMed 12393793, ECO 0000269|PubMed 26198635, ECO 0000269|PubMed 9700202}. # SUPFAM SSF48403 SSF48403 # TCDB 9.B.37.1 the huntington-interacting protein 14 (hip14) family # TISSUE SPECIFICITY ZDH17_HUMAN Expressed in all brain regions. Expression is highest in the cortex, cerebellum, occipital lobe and caudate and lowest in the spinal cord. Expression is also seen in testis, pancreas, heart and kidney. ZDHHC17 is the only palmitoyltransferase in erythrocytes. {ECO 0000269|PubMed 12393793, ECO 0000269|PubMed 22496366}. # UCSC uc001syk human. [Q8IUH5-1] # eggNOG COG0666 LUCA # eggNOG COG5273 LUCA # eggNOG KOG0509 Eukaryota BLAST swissprot:ZDH17_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ZDH17_HUMAN COXPRESdb 23390 http://coxpresdb.jp/data/gene/23390.shtml CleanEx HS_ZDHHC17 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ZDHHC17 DOI 10.1002/prot.22452 http://dx.doi.org/10.1002/prot.22452 DOI 10.1016/j.neuron.2004.11.027 http://dx.doi.org/10.1016/j.neuron.2004.11.027 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1038/sj.onc.1206406 http://dx.doi.org/10.1038/sj.onc.1206406 DOI 10.1038/sj.onc.1208171 http://dx.doi.org/10.1038/sj.onc.1208171 DOI 10.1074/jbc.M111.332981 http://dx.doi.org/10.1074/jbc.M111.332981 DOI 10.1074/jbc.M115.657668 http://dx.doi.org/10.1074/jbc.M115.657668 DOI 10.1074/jbc.M801469200 http://dx.doi.org/10.1074/jbc.M801469200 DOI 10.1093/dnares/6.1.63 http://dx.doi.org/10.1093/dnares/6.1.63 DOI 10.1093/hmg/11.23.2815 http://dx.doi.org/10.1093/hmg/11.23.2815 DOI 10.1093/hmg/7.9.1463 http://dx.doi.org/10.1093/hmg/7.9.1463 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1128/MCB.00754-08 http://dx.doi.org/10.1128/MCB.00754-08 DOI 10.1186/s12859-014-0440-9 http://dx.doi.org/10.1186/s12859-014-0440-9 DOI 10.1523/JNEUROSCI.2464-07.2007 http://dx.doi.org/10.1523/JNEUROSCI.2464-07.2007 EC_number EC:2.3.1.225 {ECO:0000269|PubMed:15489887, ECO:0000269|PubMed:15603740} http://www.genome.jp/dbget-bin/www_bget?EC:2.3.1.225 {ECO:0000269|PubMed:15489887, ECO:0000269|PubMed:15603740} EMBL AB023163 http://www.ebi.ac.uk/ena/data/view/AB023163 EMBL AB024494 http://www.ebi.ac.uk/ena/data/view/AB024494 EMBL AB097013 http://www.ebi.ac.uk/ena/data/view/AB097013 EMBL AB097035 http://www.ebi.ac.uk/ena/data/view/AB097035 EMBL AF049612 http://www.ebi.ac.uk/ena/data/view/AF049612 EMBL AF161412 http://www.ebi.ac.uk/ena/data/view/AF161412 EMBL AK299089 http://www.ebi.ac.uk/ena/data/view/AK299089 EMBL BC030990 http://www.ebi.ac.uk/ena/data/view/BC030990 EMBL BC050324 http://www.ebi.ac.uk/ena/data/view/BC050324 ENZYME 2.3.1.225 {ECO:0000269|PubMed:15489887, ECO:0000269|PubMed:15603740} http://enzyme.expasy.org/EC/2.3.1.225 {ECO:0000269|PubMed:15489887, ECO:0000269|PubMed:15603740} Ensembl ENST00000426126 http://www.ensembl.org/id/ENST00000426126 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000139 GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0030659 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030659 GO_component GO:0030660 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030660 GO_component GO:0042734 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042734 GO_component GO:0043231 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043231 GO_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GO_function GO:0008270 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008270 GO_function GO:0015095 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015095 GO_function GO:0016409 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016409 GO_function GO:0019706 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019706 GO_function GO:0042802 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042802 GO_process GO:0018345 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0018345 GO_process GO:0042953 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042953 GO_process GO:0043123 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043123 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0016746 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016746 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006464 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006464 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 Gene3D 1.25.40.20 http://www.cathdb.info/version/latest/superfamily/1.25.40.20 GeneCards ZDHHC17 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ZDHHC17 GeneID 23390 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=23390 GeneTree ENSGT00530000063074 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000063074 HGNC HGNC:18412 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:18412 HOVERGEN HBG051907 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG051907&db=HOVERGEN HPA HPA016807 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA016807 InParanoid Q8IUH5 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8IUH5 IntAct Q8IUH5 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q8IUH5* IntEnz 2.3.1.225 {ECO:0000269|PubMed:15489887, ECO:0000269|PubMed:15603740} http://www.ebi.ac.uk/intenz/query?cmd=Search&q=2.3.1.225 {ECO:0000269|PubMed:15489887, ECO:0000269|PubMed:15603740} InterPro IPR001594 http://www.ebi.ac.uk/interpro/entry/IPR001594 InterPro IPR002110 http://www.ebi.ac.uk/interpro/entry/IPR002110 InterPro IPR020683 http://www.ebi.ac.uk/interpro/entry/IPR020683 InterPro IPR030289 http://www.ebi.ac.uk/interpro/entry/IPR030289 Jabion 23390 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=23390 KEGG_Gene hsa:23390 http://www.genome.jp/dbget-bin/www_bget?hsa:23390 MIM 607799 http://www.ncbi.nlm.nih.gov/omim/607799 MINT MINT-1537511 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1537511 OMA IMQLARI http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=IMQLARI OrthoDB EOG091G056H http://cegg.unige.ch/orthodb/results?searchtext=EOG091G056H PANTHER PTHR24161:SF18 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24161:SF18 PDB 3EU9 http://www.ebi.ac.uk/pdbe-srv/view/entry/3EU9 PDBsum 3EU9 http://www.ebi.ac.uk/pdbsum/3EU9 PRINTS PR01415 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01415 PROSITE PS50088 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50088 PROSITE PS50216 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50216 PROSITE PS50297 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50297 PSORT swissprot:ZDH17_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ZDH17_HUMAN PSORT-B swissprot:ZDH17_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ZDH17_HUMAN PSORT2 swissprot:ZDH17_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ZDH17_HUMAN Pfam PF01529 http://pfam.xfam.org/family/PF01529 Pfam PF12796 http://pfam.xfam.org/family/PF12796 PharmGKB PA134991292 http://www.pharmgkb.org/do/serve?objId=PA134991292&objCls=Gene Phobius swissprot:ZDH17_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ZDH17_HUMAN PhylomeDB Q8IUH5 http://phylomedb.org/?seqid=Q8IUH5 ProteinModelPortal Q8IUH5 http://www.proteinmodelportal.org/query/uniprot/Q8IUH5 PubMed 10231032 http://www.ncbi.nlm.nih.gov/pubmed/10231032 PubMed 12393793 http://www.ncbi.nlm.nih.gov/pubmed/12393793 PubMed 12761501 http://www.ncbi.nlm.nih.gov/pubmed/12761501 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15489887 http://www.ncbi.nlm.nih.gov/pubmed/15489887 PubMed 15603740 http://www.ncbi.nlm.nih.gov/pubmed/15603740 PubMed 18032660 http://www.ncbi.nlm.nih.gov/pubmed/18032660 PubMed 18794299 http://www.ncbi.nlm.nih.gov/pubmed/18794299 PubMed 19139280 http://www.ncbi.nlm.nih.gov/pubmed/19139280 PubMed 19434754 http://www.ncbi.nlm.nih.gov/pubmed/19434754 PubMed 22496366 http://www.ncbi.nlm.nih.gov/pubmed/22496366 PubMed 25547411 http://www.ncbi.nlm.nih.gov/pubmed/25547411 PubMed 26198635 http://www.ncbi.nlm.nih.gov/pubmed/26198635 PubMed 9700202 http://www.ncbi.nlm.nih.gov/pubmed/9700202 RefSeq NP_056151 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_056151 SMART SM00248 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00248 SMR Q8IUH5 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q8IUH5 STRING 9606.ENSP00000403397 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000403397&targetmode=cogs SUPFAM SSF48403 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48403 TCDB 9.B.37.1 http://www.tcdb.org/search/result.php?tc=9.B.37.1 UCSC uc001syk http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001syk&org=rat UniGene Hs.4014 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.4014 UniProtKB ZDH17_HUMAN http://www.uniprot.org/uniprot/ZDH17_HUMAN UniProtKB-AC Q8IUH5 http://www.uniprot.org/uniprot/Q8IUH5 charge swissprot:ZDH17_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ZDH17_HUMAN eggNOG COG0666 http://eggnogapi.embl.de/nog_data/html/tree/COG0666 eggNOG COG5273 http://eggnogapi.embl.de/nog_data/html/tree/COG5273 eggNOG KOG0509 http://eggnogapi.embl.de/nog_data/html/tree/KOG0509 epestfind swissprot:ZDH17_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ZDH17_HUMAN garnier swissprot:ZDH17_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ZDH17_HUMAN helixturnhelix swissprot:ZDH17_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ZDH17_HUMAN hmoment swissprot:ZDH17_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ZDH17_HUMAN iep swissprot:ZDH17_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ZDH17_HUMAN inforesidue swissprot:ZDH17_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ZDH17_HUMAN neXtProt NX_Q8IUH5 http://www.nextprot.org/db/entry/NX_Q8IUH5 octanol swissprot:ZDH17_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ZDH17_HUMAN pepcoil swissprot:ZDH17_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ZDH17_HUMAN pepdigest swissprot:ZDH17_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ZDH17_HUMAN pepinfo swissprot:ZDH17_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ZDH17_HUMAN pepnet swissprot:ZDH17_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ZDH17_HUMAN pepstats swissprot:ZDH17_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ZDH17_HUMAN pepwheel swissprot:ZDH17_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ZDH17_HUMAN pepwindow swissprot:ZDH17_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ZDH17_HUMAN sigcleave swissprot:ZDH17_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ZDH17_HUMAN ## Database ID URL or Descriptions # AltName COX41_HUMAN Cytochrome c oxidase polypeptide IV # AltName COX41_HUMAN Cytochrome c oxidase subunit IV isoform 1 # BioGrid 107720 52 # CDD cd00922 Cyt_c_Oxidase_IV # ChiTaRS COX4I1 human # DrugBank DB02659 Cholic Acid # Ensembl ENST00000253452 ENSP00000253452; ENSG00000131143 # Ensembl ENST00000561569 ENSP00000457015; ENSG00000131143 # Ensembl ENST00000562336 ENSP00000457513; ENSG00000131143 # ExpressionAtlas P13073 baseline and differential # FUNCTION COX41_HUMAN This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport. # GO_component GO:0005634 nucleus; IDA:HPA. # GO_component GO:0005739 mitochondrion; IDA:UniProtKB. # GO_component GO:0005743 mitochondrial inner membrane; TAS:Reactome. # GO_component GO:0005751 mitochondrial respiratory chain complex IV; IBA:GO_Central. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0004129 cytochrome-c oxidase activity; TAS:ProtInc. # GO_process GO:0006091 generation of precursor metabolites and energy; TAS:ProtInc. # GO_process GO:0006123 mitochondrial electron transport, cytochrome c to oxygen; IBA:GO_Central. # GO_process GO:0007584 response to nutrient; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005739 mitochondrion # GOslim_component GO:0043226 organelle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0016491 oxidoreductase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006091 generation of precursor metabolites and energy # GOslim_process GO:0008150 biological_process # Gene3D 1.10.442.10 -; 1. # Genevisible P13073 HS # HGNC HGNC:2265 COX4I1 # INTERACTION COX41_HUMAN P00395 MT-CO1; NbExp=2; IntAct=EBI-1056574, EBI-2117234; O00560 SDCBP; NbExp=3; IntAct=EBI-1056574, EBI-727004; # IntAct P13073 17 # InterPro IPR004203 Cyt_c_oxidase_su4_fam # InterPro IPR013288 Cyt_c_oxidase_su4 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Pathway ko00190 Oxidative phosphorylation # KEGG_Pathway ko04260 Cardiac muscle contraction # KEGG_Pathway ko05010 Alzheimer's disease # KEGG_Pathway ko05012 Parkinson's disease # KEGG_Pathway ko05016 Huntington's disease # MIM 123864 gene # Organism COX41_HUMAN Homo sapiens (Human) # PANTHER PTHR10707 PTHR10707 # PIR S47012 OLHU4 # PRINTS PR01873 CYTCOXIDASE4 # Pfam PF02936 COX4 # Proteomes UP000005640 Chromosome 16 # Reactome R-HSA-5628897 TP53 Regulates Metabolic Genes # Reactome R-HSA-611105 Respiratory electron transport # RecName COX41_HUMAN Cytochrome c oxidase subunit 4 isoform 1, mitochondrial # RefSeq NP_001305715 NM_001318786.1 # RefSeq NP_001305717 NM_001318788.1 # RefSeq NP_001305723 NM_001318794.1 # RefSeq NP_001305726 NM_001318797.1 # RefSeq NP_001305731 NM_001318802.1 # RefSeq NP_001852 NM_001861.4 # SIMILARITY Belongs to the cytochrome c oxidase IV family. {ECO 0000305}. # SUBCELLULAR LOCATION COX41_HUMAN Mitochondrion inner membrane. # SUPFAM SSF81406 SSF81406 # TCDB 3.D.4.11 the proton-translocating cytochrome oxidase (cox) superfamily # TISSUE SPECIFICITY COX41_HUMAN Ubiquitous. # UCSC uc002fje human # eggNOG ENOG4111T97 LUCA # eggNOG KOG4075 Eukaryota BLAST swissprot:COX41_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:COX41_HUMAN BioCyc ZFISH:HS05494-MONOMER http://biocyc.org/getid?id=ZFISH:HS05494-MONOMER COXPRESdb 1327 http://coxpresdb.jp/data/gene/1327.shtml CleanEx HS_COX4I1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_COX4I1 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1007/s003359901031 http://dx.doi.org/10.1007/s003359901031 DOI 10.1016/0167-4838(92)90395-T http://dx.doi.org/10.1016/0167-4838(92)90395-T DOI 10.1016/0378-1119(87)90281-2 http://dx.doi.org/10.1016/0378-1119(87)90281-2 DOI 10.1016/0378-1119(90)90281-U http://dx.doi.org/10.1016/0378-1119(90)90281-U DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1175371 http://dx.doi.org/10.1126/science.1175371 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DrugBank DB02659 http://www.drugbank.ca/drugs/DB02659 EMBL AF005889 http://www.ebi.ac.uk/ena/data/view/AF005889 EMBL AF017115 http://www.ebi.ac.uk/ena/data/view/AF017115 EMBL AH005828 http://www.ebi.ac.uk/ena/data/view/AH005828 EMBL AK311847 http://www.ebi.ac.uk/ena/data/view/AK311847 EMBL BC008704 http://www.ebi.ac.uk/ena/data/view/BC008704 EMBL BC021236 http://www.ebi.ac.uk/ena/data/view/BC021236 EMBL BC062437 http://www.ebi.ac.uk/ena/data/view/BC062437 EMBL BT019825 http://www.ebi.ac.uk/ena/data/view/BT019825 EMBL CH471114 http://www.ebi.ac.uk/ena/data/view/CH471114 EMBL CH471114 http://www.ebi.ac.uk/ena/data/view/CH471114 EMBL M21575 http://www.ebi.ac.uk/ena/data/view/M21575 EMBL M34600 http://www.ebi.ac.uk/ena/data/view/M34600 EMBL U90915 http://www.ebi.ac.uk/ena/data/view/U90915 EMBL X54802 http://www.ebi.ac.uk/ena/data/view/X54802 Ensembl ENST00000253452 http://www.ensembl.org/id/ENST00000253452 Ensembl ENST00000561569 http://www.ensembl.org/id/ENST00000561569 Ensembl ENST00000562336 http://www.ensembl.org/id/ENST00000562336 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0005751 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005751 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0004129 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004129 GO_process GO:0006091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006091 GO_process GO:0006123 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006123 GO_process GO:0007584 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007584 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0016491 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016491 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006091 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 Gene3D 1.10.442.10 http://www.cathdb.info/version/latest/superfamily/1.10.442.10 GeneCards COX4I1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=COX4I1 GeneID 1327 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=1327 GeneTree ENSGT00390000002407 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000002407 HGNC HGNC:2265 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:2265 HOGENOM HOG000231486 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231486&db=HOGENOM6 HOVERGEN HBG051087 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG051087&db=HOVERGEN HPA CAB004080 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB004080 HPA HPA002485 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA002485 InParanoid P13073 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P13073 IntAct P13073 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P13073* InterPro IPR004203 http://www.ebi.ac.uk/interpro/entry/IPR004203 InterPro IPR013288 http://www.ebi.ac.uk/interpro/entry/IPR013288 Jabion 1327 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=1327 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00002 http://www.genome.jp/dbget-bin/www_bget?ko00002 KEGG_Gene hsa:1327 http://www.genome.jp/dbget-bin/www_bget?hsa:1327 KEGG_Orthology KO:K02263 http://www.genome.jp/dbget-bin/www_bget?KO:K02263 KEGG_Pathway ko00190 http://www.genome.jp/kegg-bin/show_pathway?ko00190 KEGG_Pathway ko04260 http://www.genome.jp/kegg-bin/show_pathway?ko04260 KEGG_Pathway ko05010 http://www.genome.jp/kegg-bin/show_pathway?ko05010 KEGG_Pathway ko05012 http://www.genome.jp/kegg-bin/show_pathway?ko05012 KEGG_Pathway ko05016 http://www.genome.jp/kegg-bin/show_pathway?ko05016 MIM 123864 http://www.ncbi.nlm.nih.gov/omim/123864 MINT MINT-3007868 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-3007868 OMA EKHYVYG http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=EKHYVYG OrthoDB EOG091G0XDH http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0XDH PANTHER PTHR10707 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10707 PRINTS PR01873 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01873 PSORT swissprot:COX41_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:COX41_HUMAN PSORT-B swissprot:COX41_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:COX41_HUMAN PSORT2 swissprot:COX41_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:COX41_HUMAN Pfam PF02936 http://pfam.xfam.org/family/PF02936 PharmGKB PA26781 http://www.pharmgkb.org/do/serve?objId=PA26781&objCls=Gene Phobius swissprot:COX41_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:COX41_HUMAN PhylomeDB P13073 http://phylomedb.org/?seqid=P13073 ProteinModelPortal P13073 http://www.proteinmodelportal.org/query/uniprot/P13073 PubMed 10337626 http://www.ncbi.nlm.nih.gov/pubmed/10337626 PubMed 1311608 http://www.ncbi.nlm.nih.gov/pubmed/1311608 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 19608861 http://www.ncbi.nlm.nih.gov/pubmed/19608861 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 2157630 http://www.ncbi.nlm.nih.gov/pubmed/2157630 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 2444497 http://www.ncbi.nlm.nih.gov/pubmed/2444497 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 Reactome R-HSA-5628897 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5628897 Reactome R-HSA-611105 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-611105 RefSeq NP_001305715 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001305715 RefSeq NP_001305717 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001305717 RefSeq NP_001305723 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001305723 RefSeq NP_001305726 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001305726 RefSeq NP_001305731 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001305731 RefSeq NP_001852 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001852 SMR P13073 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P13073 STRING 9606.ENSP00000253452 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000253452&targetmode=cogs SUPFAM SSF81406 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81406 TCDB 3.D.4.11 http://www.tcdb.org/search/result.php?tc=3.D.4.11 UCSC uc002fje http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002fje&org=rat UniGene Hs.433419 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.433419 UniProtKB COX41_HUMAN http://www.uniprot.org/uniprot/COX41_HUMAN UniProtKB-AC P13073 http://www.uniprot.org/uniprot/P13073 charge swissprot:COX41_HUMAN http://rest.g-language.org/emboss/charge/swissprot:COX41_HUMAN eggNOG ENOG4111T97 http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111T97 eggNOG KOG4075 http://eggnogapi.embl.de/nog_data/html/tree/KOG4075 epestfind swissprot:COX41_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:COX41_HUMAN garnier swissprot:COX41_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:COX41_HUMAN helixturnhelix swissprot:COX41_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:COX41_HUMAN hmoment swissprot:COX41_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:COX41_HUMAN iep swissprot:COX41_HUMAN http://rest.g-language.org/emboss/iep/swissprot:COX41_HUMAN inforesidue swissprot:COX41_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:COX41_HUMAN neXtProt NX_P13073 http://www.nextprot.org/db/entry/NX_P13073 octanol swissprot:COX41_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:COX41_HUMAN pepcoil swissprot:COX41_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:COX41_HUMAN pepdigest swissprot:COX41_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:COX41_HUMAN pepinfo swissprot:COX41_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:COX41_HUMAN pepnet swissprot:COX41_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:COX41_HUMAN pepstats swissprot:COX41_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:COX41_HUMAN pepwheel swissprot:COX41_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:COX41_HUMAN pepwindow swissprot:COX41_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:COX41_HUMAN sigcleave swissprot:COX41_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:COX41_HUMAN ## Database ID URL or Descriptions # AltName GBRA3_HUMAN GABA(A) receptor subunit alpha-3 # BioGrid 108830 20 # ChiTaRS GABRA3 human # DrugBank DB00186 Lorazepam # DrugBank DB00189 Ethchlorvynol # DrugBank DB00228 Enflurane # DrugBank DB00231 Temazepam # DrugBank DB00237 Butabarbital # DrugBank DB00241 Butalbital # DrugBank DB00273 Topiramate # DrugBank DB00292 Etomidate # DrugBank DB00306 Talbutal # DrugBank DB00312 Pentobarbital # DrugBank DB00334 Olanzapine # DrugBank DB00349 Clobazam # DrugBank DB00371 Meprobamate # DrugBank DB00402 Eszopiclone # DrugBank DB00404 Alprazolam # DrugBank DB00418 Secobarbital # DrugBank DB00425 Zolpidem # DrugBank DB00475 Chlordiazepoxide # DrugBank DB00543 Amoxapine # DrugBank DB00546 Adinazolam # DrugBank DB00599 Thiopental # DrugBank DB00628 Clorazepate # DrugBank DB00659 Acamprosate # DrugBank DB00683 Midazolam # DrugBank DB00690 Flurazepam # DrugBank DB00753 Isoflurane # DrugBank DB00794 Primidone # DrugBank DB00801 Halazepam # DrugBank DB00818 Propofol # DrugBank DB00829 Diazepam # DrugBank DB00842 Oxazepam # DrugBank DB00849 Methylphenobarbital # DrugBank DB00897 Triazolam # DrugBank DB00898 Ethanol # DrugBank DB01028 Methoxyflurane # DrugBank DB01049 Ergoloid mesylate # DrugBank DB01068 Clonazepam # DrugBank DB01107 Methyprylon # DrugBank DB01159 Halothane # DrugBank DB01189 Desflurane # DrugBank DB01198 Zopiclone # DrugBank DB01205 Flumazenil # DrugBank DB01215 Estazolam # DrugBank DB01236 Sevoflurane # DrugBank DB01351 Amobarbital # DrugBank DB01352 Aprobarbital # DrugBank DB01353 Butethal # DrugBank DB01354 Heptabarbital # DrugBank DB01355 Hexobarbital # DrugBank DB01437 Glutethimide # DrugBank DB01544 Flunitrazepam # DrugBank DB01558 Bromazepam # DrugBank DB01559 Clotiazepam # DrugBank DB01567 Fludiazepam # DrugBank DB01588 Prazepam # DrugBank DB01589 Quazepam # DrugBank DB01594 Cinolazepam # DrugBank DB01595 Nitrazepam # Ensembl ENST00000370314 ENSP00000359337; ENSG00000011677 # Ensembl ENST00000535043 ENSP00000443527; ENSG00000011677 # FUNCTION GBRA3_HUMAN GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0034707 chloride channel complex; IEA:UniProtKB-KW. # GO_component GO:0045211 postsynaptic membrane; IEA:UniProtKB-SubCell. # GO_component GO:1902711 GABA-A receptor complex; IBA:GO_Central. # GO_function GO:0004890 GABA-A receptor activity; IEA:InterPro. # GO_function GO:0005230 extracellular ligand-gated ion channel activity; IEA:InterPro. # GO_function GO:0005254 chloride channel activity; IEA:UniProtKB-KW. # GO_function GO:0008503 benzodiazepine receptor activity; TAS:ProtInc. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0007214 gamma-aminobutyric acid signaling pathway; TAS:ProtInc. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0055085 transmembrane transport # Gene3D 2.70.170.10 -; 1. # Genevisible P34903 HS # HGNC HGNC:4077 GABRA3 # IntAct P34903 3 # InterPro IPR001390 GABAAa_rcpt # InterPro IPR005433 GABBAa3_rcpt # InterPro IPR006028 GABAA/Glycine_rcpt # InterPro IPR006029 Neurotrans-gated_channel_TM # InterPro IPR006201 Neur_channel # InterPro IPR006202 Neur_chan_lig-bd # InterPro IPR018000 Neurotransmitter_ion_chnl_CS # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04080 Neuroactive ligand-receptor interaction # KEGG_Pathway ko04723 Retrograde endocannabinoid signaling # KEGG_Pathway ko04727 GABAergic synapse # KEGG_Pathway ko05032 Morphine addiction # KEGG_Pathway ko05033 Nicotine addiction # MIM 305660 gene # Organism GBRA3_HUMAN Homo sapiens (Human) # Orphanet 79102 Thyrotoxic periodic paralysis # PANTHER PTHR18945 PTHR18945; 2 # PIR I77911 I77911 # PRINTS PR00252 NRIONCHANNEL # PRINTS PR00253 GABAARECEPTR # PRINTS PR01079 GABAARALPHA # PRINTS PR01616 GABAARALPHA3 # PROSITE PS00236 NEUROTR_ION_CHANNEL # Pfam PF02931 Neur_chan_LBD # Pfam PF02932 Neur_chan_memb # Proteomes UP000005640 Chromosome X # Reactome R-HSA-112314 Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell # Reactome R-HSA-975298 Ligand-gated ion channel transport # Reactome R-HSA-977441 GABA A receptor activation # RecName GBRA3_HUMAN Gamma-aminobutyric acid receptor subunit alpha-3 # RefSeq NP_000799 NM_000808.3 # SIMILARITY Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRA3 sub-subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION GBRA3_HUMAN Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. # SUBUNIT GBRA3_HUMAN Generally pentameric. There are five types of GABA(A) receptor chains alpha, beta, gamma, delta, and rho. Binds UBQLN1 (By similarity). Interacts with GPHN (PubMed 26613940). {ECO 0000250|UniProtKB P26049, ECO 0000269|PubMed 26613940}. # SUPFAM SSF63712 SSF63712 # SUPFAM SSF90112 SSF90112 # TIGRFAMs TIGR00860 LIC # UCSC uc010ntk human # WEB RESOURCE GBRA3_HUMAN Name=Protein Spotlight; Note=Forbidden fruit - Issue 56 of March 2005; URL="http //web.expasy.org/spotlight/back_issues/056"; # eggNOG ENOG410XNQG LUCA # eggNOG KOG3642 Eukaryota BLAST swissprot:GBRA3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:GBRA3_HUMAN BioCyc ZFISH:ENSG00000011677-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000011677-MONOMER COXPRESdb 2556 http://coxpresdb.jp/data/gene/2556.shtml CleanEx HS_GABRA3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_GABRA3 DOI 10.1002/(SICI)1096-8628(20000103)90:1<69::AID-AJMG12>3.3.CO http://dx.doi.org/10.1002/(SICI)1096-8628(20000103)90:1<69::AID-AJMG12>3.3.CO DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.15252/emmm.201505323 http://dx.doi.org/10.15252/emmm.201505323 DrugBank DB00186 http://www.drugbank.ca/drugs/DB00186 DrugBank DB00189 http://www.drugbank.ca/drugs/DB00189 DrugBank DB00228 http://www.drugbank.ca/drugs/DB00228 DrugBank DB00231 http://www.drugbank.ca/drugs/DB00231 DrugBank DB00237 http://www.drugbank.ca/drugs/DB00237 DrugBank DB00241 http://www.drugbank.ca/drugs/DB00241 DrugBank DB00273 http://www.drugbank.ca/drugs/DB00273 DrugBank DB00292 http://www.drugbank.ca/drugs/DB00292 DrugBank DB00306 http://www.drugbank.ca/drugs/DB00306 DrugBank DB00312 http://www.drugbank.ca/drugs/DB00312 DrugBank DB00334 http://www.drugbank.ca/drugs/DB00334 DrugBank DB00349 http://www.drugbank.ca/drugs/DB00349 DrugBank DB00371 http://www.drugbank.ca/drugs/DB00371 DrugBank DB00402 http://www.drugbank.ca/drugs/DB00402 DrugBank DB00404 http://www.drugbank.ca/drugs/DB00404 DrugBank DB00418 http://www.drugbank.ca/drugs/DB00418 DrugBank DB00425 http://www.drugbank.ca/drugs/DB00425 DrugBank DB00475 http://www.drugbank.ca/drugs/DB00475 DrugBank DB00543 http://www.drugbank.ca/drugs/DB00543 DrugBank DB00546 http://www.drugbank.ca/drugs/DB00546 DrugBank DB00599 http://www.drugbank.ca/drugs/DB00599 DrugBank DB00628 http://www.drugbank.ca/drugs/DB00628 DrugBank DB00659 http://www.drugbank.ca/drugs/DB00659 DrugBank DB00683 http://www.drugbank.ca/drugs/DB00683 DrugBank DB00690 http://www.drugbank.ca/drugs/DB00690 DrugBank DB00753 http://www.drugbank.ca/drugs/DB00753 DrugBank DB00794 http://www.drugbank.ca/drugs/DB00794 DrugBank DB00801 http://www.drugbank.ca/drugs/DB00801 DrugBank DB00818 http://www.drugbank.ca/drugs/DB00818 DrugBank DB00829 http://www.drugbank.ca/drugs/DB00829 DrugBank DB00842 http://www.drugbank.ca/drugs/DB00842 DrugBank DB00849 http://www.drugbank.ca/drugs/DB00849 DrugBank DB00897 http://www.drugbank.ca/drugs/DB00897 DrugBank DB00898 http://www.drugbank.ca/drugs/DB00898 DrugBank DB01028 http://www.drugbank.ca/drugs/DB01028 DrugBank DB01049 http://www.drugbank.ca/drugs/DB01049 DrugBank DB01068 http://www.drugbank.ca/drugs/DB01068 DrugBank DB01107 http://www.drugbank.ca/drugs/DB01107 DrugBank DB01159 http://www.drugbank.ca/drugs/DB01159 DrugBank DB01189 http://www.drugbank.ca/drugs/DB01189 DrugBank DB01198 http://www.drugbank.ca/drugs/DB01198 DrugBank DB01205 http://www.drugbank.ca/drugs/DB01205 DrugBank DB01215 http://www.drugbank.ca/drugs/DB01215 DrugBank DB01236 http://www.drugbank.ca/drugs/DB01236 DrugBank DB01351 http://www.drugbank.ca/drugs/DB01351 DrugBank DB01352 http://www.drugbank.ca/drugs/DB01352 DrugBank DB01353 http://www.drugbank.ca/drugs/DB01353 DrugBank DB01354 http://www.drugbank.ca/drugs/DB01354 DrugBank DB01355 http://www.drugbank.ca/drugs/DB01355 DrugBank DB01437 http://www.drugbank.ca/drugs/DB01437 DrugBank DB01544 http://www.drugbank.ca/drugs/DB01544 DrugBank DB01558 http://www.drugbank.ca/drugs/DB01558 DrugBank DB01559 http://www.drugbank.ca/drugs/DB01559 DrugBank DB01567 http://www.drugbank.ca/drugs/DB01567 DrugBank DB01588 http://www.drugbank.ca/drugs/DB01588 DrugBank DB01589 http://www.drugbank.ca/drugs/DB01589 DrugBank DB01594 http://www.drugbank.ca/drugs/DB01594 DrugBank DB01595 http://www.drugbank.ca/drugs/DB01595 EMBL AF165901 http://www.ebi.ac.uk/ena/data/view/AF165901 EMBL AF165902 http://www.ebi.ac.uk/ena/data/view/AF165902 EMBL AF165903 http://www.ebi.ac.uk/ena/data/view/AF165903 EMBL AF165904 http://www.ebi.ac.uk/ena/data/view/AF165904 EMBL AF165905 http://www.ebi.ac.uk/ena/data/view/AF165905 EMBL AF165906 http://www.ebi.ac.uk/ena/data/view/AF165906 EMBL AF166359 http://www.ebi.ac.uk/ena/data/view/AF166359 EMBL AF166360 http://www.ebi.ac.uk/ena/data/view/AF166360 EMBL AF166361 http://www.ebi.ac.uk/ena/data/view/AF166361 EMBL BC028629 http://www.ebi.ac.uk/ena/data/view/BC028629 EMBL S62908 http://www.ebi.ac.uk/ena/data/view/S62908 Ensembl ENST00000370314 http://www.ensembl.org/id/ENST00000370314 Ensembl ENST00000535043 http://www.ensembl.org/id/ENST00000535043 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0034707 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034707 GO_component GO:0045211 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045211 GO_component GO:1902711 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902711 GO_function GO:0004890 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004890 GO_function GO:0005230 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005230 GO_function GO:0005254 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005254 GO_function GO:0008503 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008503 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0007214 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007214 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 2.70.170.10 http://www.cathdb.info/version/latest/superfamily/2.70.170.10 GeneCards GABRA3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=GABRA3 GeneID 2556 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=2556 GeneTree ENSGT00760000119010 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119010 HGNC HGNC:4077 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:4077 HOGENOM HOG000231337 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231337&db=HOGENOM6 HOVERGEN HBG051707 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG051707&db=HOVERGEN HPA HPA000839 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA000839 InParanoid P34903 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P34903 IntAct P34903 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P34903* InterPro IPR001390 http://www.ebi.ac.uk/interpro/entry/IPR001390 InterPro IPR005433 http://www.ebi.ac.uk/interpro/entry/IPR005433 InterPro IPR006028 http://www.ebi.ac.uk/interpro/entry/IPR006028 InterPro IPR006029 http://www.ebi.ac.uk/interpro/entry/IPR006029 InterPro IPR006201 http://www.ebi.ac.uk/interpro/entry/IPR006201 InterPro IPR006202 http://www.ebi.ac.uk/interpro/entry/IPR006202 InterPro IPR018000 http://www.ebi.ac.uk/interpro/entry/IPR018000 Jabion 2556 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=2556 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:2556 http://www.genome.jp/dbget-bin/www_bget?hsa:2556 KEGG_Orthology KO:K05175 http://www.genome.jp/dbget-bin/www_bget?KO:K05175 KEGG_Pathway ko04080 http://www.genome.jp/kegg-bin/show_pathway?ko04080 KEGG_Pathway ko04723 http://www.genome.jp/kegg-bin/show_pathway?ko04723 KEGG_Pathway ko04727 http://www.genome.jp/kegg-bin/show_pathway?ko04727 KEGG_Pathway ko05032 http://www.genome.jp/kegg-bin/show_pathway?ko05032 KEGG_Pathway ko05033 http://www.genome.jp/kegg-bin/show_pathway?ko05033 MIM 305660 http://www.ncbi.nlm.nih.gov/omim/305660 MINT MINT-7242442 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-7242442 OMA YNIVGTT http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=YNIVGTT Orphanet 79102 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=79102 OrthoDB EOG091G0805 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0805 PANTHER PTHR18945 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR18945 PRINTS PR00252 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00252 PRINTS PR00253 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00253 PRINTS PR01079 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01079 PRINTS PR01616 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01616 PROSITE PS00236 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00236 PSORT swissprot:GBRA3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:GBRA3_HUMAN PSORT-B swissprot:GBRA3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:GBRA3_HUMAN PSORT2 swissprot:GBRA3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:GBRA3_HUMAN Pfam PF02931 http://pfam.xfam.org/family/PF02931 Pfam PF02932 http://pfam.xfam.org/family/PF02932 PharmGKB PA28491 http://www.pharmgkb.org/do/serve?objId=PA28491&objCls=Gene Phobius swissprot:GBRA3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:GBRA3_HUMAN PhylomeDB P34903 http://phylomedb.org/?seqid=P34903 ProteinModelPortal P34903 http://www.proteinmodelportal.org/query/uniprot/P34903 PubMed 10602120 http://www.ncbi.nlm.nih.gov/pubmed/10602120 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 26613940 http://www.ncbi.nlm.nih.gov/pubmed/26613940 PubMed 8391122 http://www.ncbi.nlm.nih.gov/pubmed/8391122 Reactome R-HSA-112314 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-112314 Reactome R-HSA-975298 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-975298 Reactome R-HSA-977441 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-977441 RefSeq NP_000799 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000799 STRING 9606.ENSP00000359334 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000359334&targetmode=cogs SUPFAM SSF63712 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF63712 SUPFAM SSF90112 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF90112 TIGRFAMs TIGR00860 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00860 UCSC uc010ntk http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc010ntk&org=rat UniGene Hs.123024 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.123024 UniProtKB GBRA3_HUMAN http://www.uniprot.org/uniprot/GBRA3_HUMAN UniProtKB-AC P34903 http://www.uniprot.org/uniprot/P34903 charge swissprot:GBRA3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:GBRA3_HUMAN eggNOG ENOG410XNQG http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XNQG eggNOG KOG3642 http://eggnogapi.embl.de/nog_data/html/tree/KOG3642 epestfind swissprot:GBRA3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:GBRA3_HUMAN garnier swissprot:GBRA3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:GBRA3_HUMAN helixturnhelix swissprot:GBRA3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:GBRA3_HUMAN hmoment swissprot:GBRA3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:GBRA3_HUMAN iep swissprot:GBRA3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:GBRA3_HUMAN inforesidue swissprot:GBRA3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:GBRA3_HUMAN neXtProt NX_P34903 http://www.nextprot.org/db/entry/NX_P34903 octanol swissprot:GBRA3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:GBRA3_HUMAN pepcoil swissprot:GBRA3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:GBRA3_HUMAN pepdigest swissprot:GBRA3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:GBRA3_HUMAN pepinfo swissprot:GBRA3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:GBRA3_HUMAN pepnet swissprot:GBRA3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:GBRA3_HUMAN pepstats swissprot:GBRA3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:GBRA3_HUMAN pepwheel swissprot:GBRA3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:GBRA3_HUMAN pepwindow swissprot:GBRA3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:GBRA3_HUMAN sigcleave swissprot:GBRA3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:GBRA3_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS MCLN2_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8IZK6-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q8IZK6-2; Sequence=VSP_034642; # CCDS CCDS30762 -. [Q8IZK6-1] # CCDS CCDS81347 -. [Q8IZK6-2] # Ensembl ENST00000284027 ENSP00000284027; ENSG00000153898. [Q8IZK6-2] # Ensembl ENST00000370608 ENSP00000359640; ENSG00000153898. [Q8IZK6-1] # ExpressionAtlas Q8IZK6 baseline and differential # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0005262 calcium channel activity; TAS:Reactome. # GO_process GO:0070588 calcium ion transmembrane transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0055085 transmembrane transport # Genevisible Q8IZK6 HS # HGNC HGNC:13357 MCOLN2 # InterPro IPR013122 PKD1_2_channel # KEGG_Brite ko04040 Ion channels # MIM 607399 gene # Organism MCLN2_HUMAN Homo sapiens (Human) # Pfam PF08016 PKD_channel # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-3295583 TRP channels # RecName MCLN2_HUMAN Mucolipin-2 # RefSeq NP_001317576 NM_001330647.1 # RefSeq NP_694991 NM_153259.3. [Q8IZK6-1] # RefSeq XP_005270776 XM_005270719.3. [Q8IZK6-2] # RefSeq XP_011539489 XM_011541187.2. [Q8IZK6-2] # RefSeq XP_011539490 XM_011541188.2. [Q8IZK6-2] # SEQUENCE CAUTION Sequence=BAC04267.1; Type=Erroneous termination; Positions=64; Note=Translated as Trp.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the transient receptor (TC 1.A.4) family. Polycystin subfamily. MCOLN2 sub-subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION MCLN2_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # TCDB 1.A.5.3 the polycystin cation channel (pcc) family # UCSC uc001dkm human. [Q8IZK6-1] # eggNOG ENOG410Z1HH LUCA # eggNOG KOG3733 Eukaryota BLAST swissprot:MCLN2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:MCLN2_HUMAN COXPRESdb 255231 http://coxpresdb.jp/data/gene/255231.shtml CleanEx HS_MCOLN2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_MCOLN2 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.222425399 http://dx.doi.org/10.1073/pnas.222425399 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AK094010 http://www.ebi.ac.uk/ena/data/view/AK094010 EMBL AL139150 http://www.ebi.ac.uk/ena/data/view/AL139150 EMBL AY083533 http://www.ebi.ac.uk/ena/data/view/AY083533 EMBL BC104891 http://www.ebi.ac.uk/ena/data/view/BC104891 EMBL BC104893 http://www.ebi.ac.uk/ena/data/view/BC104893 EMBL CH471097 http://www.ebi.ac.uk/ena/data/view/CH471097 Ensembl ENST00000284027 http://www.ensembl.org/id/ENST00000284027 Ensembl ENST00000370608 http://www.ensembl.org/id/ENST00000370608 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005262 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005262 GO_process GO:0070588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070588 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards MCOLN2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=MCOLN2 GeneID 255231 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=255231 GeneTree ENSGT00390000017126 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000017126 HGNC HGNC:13357 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:13357 HOGENOM HOG000232158 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000232158&db=HOGENOM6 HOVERGEN HBG052430 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052430&db=HOVERGEN HPA HPA019114 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA019114 HPA HPA048999 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA048999 InParanoid Q8IZK6 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8IZK6 InterPro IPR013122 http://www.ebi.ac.uk/interpro/entry/IPR013122 Jabion 255231 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=255231 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:255231 http://www.genome.jp/dbget-bin/www_bget?hsa:255231 KEGG_Orthology KO:K04993 http://www.genome.jp/dbget-bin/www_bget?KO:K04993 MIM 607399 http://www.ncbi.nlm.nih.gov/omim/607399 OMA CKDWHIL http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=CKDWHIL OrthoDB EOG091G026A http://cegg.unige.ch/orthodb/results?searchtext=EOG091G026A PSORT swissprot:MCLN2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:MCLN2_HUMAN PSORT-B swissprot:MCLN2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:MCLN2_HUMAN PSORT2 swissprot:MCLN2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:MCLN2_HUMAN Pfam PF08016 http://pfam.xfam.org/family/PF08016 PharmGKB PA134913691 http://www.pharmgkb.org/do/serve?objId=PA134913691&objCls=Gene Phobius swissprot:MCLN2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:MCLN2_HUMAN PhylomeDB Q8IZK6 http://phylomedb.org/?seqid=Q8IZK6 ProteinModelPortal Q8IZK6 http://www.proteinmodelportal.org/query/uniprot/Q8IZK6 PubMed 12403827 http://www.ncbi.nlm.nih.gov/pubmed/12403827 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 Reactome R-HSA-3295583 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-3295583 RefSeq NP_001317576 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001317576 RefSeq NP_694991 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_694991 RefSeq XP_005270776 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005270776 RefSeq XP_011539489 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011539489 RefSeq XP_011539490 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011539490 STRING 9606.ENSP00000359640 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000359640&targetmode=cogs TCDB 1.A.5.3 http://www.tcdb.org/search/result.php?tc=1.A.5.3 UCSC uc001dkm http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001dkm&org=rat UniGene Hs.591446 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.591446 UniProtKB MCLN2_HUMAN http://www.uniprot.org/uniprot/MCLN2_HUMAN UniProtKB-AC Q8IZK6 http://www.uniprot.org/uniprot/Q8IZK6 charge swissprot:MCLN2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:MCLN2_HUMAN eggNOG ENOG410Z1HH http://eggnogapi.embl.de/nog_data/html/tree/ENOG410Z1HH eggNOG KOG3733 http://eggnogapi.embl.de/nog_data/html/tree/KOG3733 epestfind swissprot:MCLN2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:MCLN2_HUMAN garnier swissprot:MCLN2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:MCLN2_HUMAN helixturnhelix swissprot:MCLN2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:MCLN2_HUMAN hmoment swissprot:MCLN2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:MCLN2_HUMAN iep swissprot:MCLN2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:MCLN2_HUMAN inforesidue swissprot:MCLN2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:MCLN2_HUMAN neXtProt NX_Q8IZK6 http://www.nextprot.org/db/entry/NX_Q8IZK6 octanol swissprot:MCLN2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:MCLN2_HUMAN pepcoil swissprot:MCLN2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:MCLN2_HUMAN pepdigest swissprot:MCLN2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:MCLN2_HUMAN pepinfo swissprot:MCLN2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:MCLN2_HUMAN pepnet swissprot:MCLN2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:MCLN2_HUMAN pepstats swissprot:MCLN2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:MCLN2_HUMAN pepwheel swissprot:MCLN2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:MCLN2_HUMAN pepwindow swissprot:MCLN2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:MCLN2_HUMAN sigcleave swissprot:MCLN2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:MCLN2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS GBRR2_HUMAN Event=Alternative initiation; Named isoforms=2; Name=1; IsoId=P28476-1; Sequence=Displayed; Name=2; IsoId=P28476-2; Sequence=VSP_044373; Note=Isoform 2 could be translated from an upstream initiator ATG located in frame within the first coding exon. The probability of a signal peptide within this isoform is very low. No experimental confirmation available.; # AltName GBRR2_HUMAN GABA(A) receptor subunit rho-2 # AltName GBRR2_HUMAN GABA(C) receptor # CCDS CCDS5020 -. [P28476-1] # ChiTaRS GABRR2 human # DrugBank DB00231 Temazepam # DrugBank DB00546 Adinazolam # DrugBank DB00683 Midazolam # DrugBank DB00690 Flurazepam # DrugBank DB00801 Halazepam # DrugBank DB00829 Diazepam # DrugBank DB00842 Oxazepam # DrugBank DB00897 Triazolam # DrugBank DB01215 Estazolam # DrugBank DB01558 Bromazepam # DrugBank DB01559 Clotiazepam # DrugBank DB01567 Fludiazepam # DrugBank DB01588 Prazepam # DrugBank DB01589 Quazepam # DrugBank DB01594 Cinolazepam # DrugBank DB01595 Nitrazepam # Ensembl ENST00000402938 ENSP00000386029; ENSG00000111886. [P28476-1] # FUNCTION GBRR2_HUMAN GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel. Rho-2 GABA receptor could play a role in retinal neurotransmission. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0034707 chloride channel complex; IEA:UniProtKB-KW. # GO_component GO:0045211 postsynaptic membrane; IEA:UniProtKB-SubCell. # GO_component GO:1902711 GABA-A receptor complex; IBA:GO_Central. # GO_function GO:0004890 GABA-A receptor activity; TAS:ProtInc. # GO_function GO:0005230 extracellular ligand-gated ion channel activity; IEA:InterPro. # GO_function GO:0005254 chloride channel activity; IEA:UniProtKB-KW. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0007165 signal transduction; TAS:ProtInc. # GO_process GO:0007214 gamma-aminobutyric acid signaling pathway; IEA:Ensembl. # GO_process GO:0007268 chemical synaptic transmission; TAS:ProtInc. # GO_process GO:0007601 visual perception; IEA:Ensembl. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0050877 neurological system process # GOslim_process GO:0055085 transmembrane transport # Gene3D 2.70.170.10 -; 1. # Genevisible P28476 HS # HGNC HGNC:4091 GABRR2 # InterPro IPR006028 GABAA/Glycine_rcpt # InterPro IPR006029 Neurotrans-gated_channel_TM # InterPro IPR006201 Neur_channel # InterPro IPR006202 Neur_chan_lig-bd # InterPro IPR008057 GABAAa_rho_rcpt # InterPro IPR008059 GABAAa_rho2_rcpt # InterPro IPR018000 Neurotransmitter_ion_chnl_CS # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04080 Neuroactive ligand-receptor interaction # KEGG_Pathway ko04723 Retrograde endocannabinoid signaling # KEGG_Pathway ko04727 GABAergic synapse # KEGG_Pathway ko05032 Morphine addiction # KEGG_Pathway ko05033 Nicotine addiction # MIM 137162 gene # Organism GBRR2_HUMAN Homo sapiens (Human) # PANTHER PTHR18945 PTHR18945 # PIR A38079 A38079 # PRINTS PR00252 NRIONCHANNEL # PRINTS PR00253 GABAARECEPTR # PRINTS PR01670 GABAARRHO # PRINTS PR01672 GABAARRHO2 # PROSITE PS00236 NEUROTR_ION_CHANNEL # Pfam PF02931 Neur_chan_LBD # Pfam PF02932 Neur_chan_memb # Proteomes UP000005640 Chromosome 6 # Reactome R-HSA-975298 Ligand-gated ion channel transport # Reactome R-HSA-977442 GABA A (rho) receptor activation # RecName GBRR2_HUMAN Gamma-aminobutyric acid receptor subunit rho-2 # RefSeq NP_002034 NM_002043.4. [P28476-1] # SIMILARITY Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRR2 sub-subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION GBRR2_HUMAN Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. # SUBUNIT Generally pentameric. There are five types of GABA(A) receptor chains: alpha, beta, gamma, delta, and rho. Interacts with SQSTM1 (By similarity). {ECO 0000250}. # SUPFAM SSF63712 SSF63712 # SUPFAM SSF90112 SSF90112 # TIGRFAMs TIGR00860 LIC # UCSC uc003pnb human. [P28476-1] # eggNOG ENOG410XPWH LUCA # eggNOG KOG3643 Eukaryota BLAST swissprot:GBRR2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:GBRR2_HUMAN BioCyc ZFISH:ENSG00000111886-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000111886-MONOMER COXPRESdb 2570 http://coxpresdb.jp/data/gene/2570.shtml DOI 10.1016/0888-7543(92)90312-G http://dx.doi.org/10.1016/0888-7543(92)90312-G DOI 10.1038/nature02055 http://dx.doi.org/10.1038/nature02055 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DrugBank DB00231 http://www.drugbank.ca/drugs/DB00231 DrugBank DB00546 http://www.drugbank.ca/drugs/DB00546 DrugBank DB00683 http://www.drugbank.ca/drugs/DB00683 DrugBank DB00690 http://www.drugbank.ca/drugs/DB00690 DrugBank DB00801 http://www.drugbank.ca/drugs/DB00801 DrugBank DB00829 http://www.drugbank.ca/drugs/DB00829 DrugBank DB00842 http://www.drugbank.ca/drugs/DB00842 DrugBank DB00897 http://www.drugbank.ca/drugs/DB00897 DrugBank DB01215 http://www.drugbank.ca/drugs/DB01215 DrugBank DB01558 http://www.drugbank.ca/drugs/DB01558 DrugBank DB01559 http://www.drugbank.ca/drugs/DB01559 DrugBank DB01567 http://www.drugbank.ca/drugs/DB01567 DrugBank DB01588 http://www.drugbank.ca/drugs/DB01588 DrugBank DB01589 http://www.drugbank.ca/drugs/DB01589 DrugBank DB01594 http://www.drugbank.ca/drugs/DB01594 DrugBank DB01595 http://www.drugbank.ca/drugs/DB01595 EMBL AL121833 http://www.ebi.ac.uk/ena/data/view/AL121833 EMBL BC130352 http://www.ebi.ac.uk/ena/data/view/BC130352 EMBL BC130354 http://www.ebi.ac.uk/ena/data/view/BC130354 EMBL M86868 http://www.ebi.ac.uk/ena/data/view/M86868 Ensembl ENST00000402938 http://www.ensembl.org/id/ENST00000402938 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0034707 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034707 GO_component GO:0045211 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045211 GO_component GO:1902711 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902711 GO_function GO:0004890 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004890 GO_function GO:0005230 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005230 GO_function GO:0005254 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005254 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GO_process GO:0007214 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007214 GO_process GO:0007268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007268 GO_process GO:0007601 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007601 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 2.70.170.10 http://www.cathdb.info/version/latest/superfamily/2.70.170.10 GeneCards GABRR2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=GABRR2 GeneID 2570 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=2570 GeneTree ENSGT00760000118821 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118821 H-InvDB HIX0200918 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0200918 HGNC HGNC:4091 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:4091 HOGENOM HOG000231335 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231335&db=HOGENOM6 HOVERGEN HBG051707 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG051707&db=HOVERGEN HPA HPA016467 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA016467 InParanoid P28476 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P28476 InterPro IPR006028 http://www.ebi.ac.uk/interpro/entry/IPR006028 InterPro IPR006029 http://www.ebi.ac.uk/interpro/entry/IPR006029 InterPro IPR006201 http://www.ebi.ac.uk/interpro/entry/IPR006201 InterPro IPR006202 http://www.ebi.ac.uk/interpro/entry/IPR006202 InterPro IPR008057 http://www.ebi.ac.uk/interpro/entry/IPR008057 InterPro IPR008059 http://www.ebi.ac.uk/interpro/entry/IPR008059 InterPro IPR018000 http://www.ebi.ac.uk/interpro/entry/IPR018000 Jabion 2570 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=2570 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:2570 http://www.genome.jp/dbget-bin/www_bget?hsa:2570 KEGG_Orthology KO:K05190 http://www.genome.jp/dbget-bin/www_bget?KO:K05190 KEGG_Pathway ko04080 http://www.genome.jp/kegg-bin/show_pathway?ko04080 KEGG_Pathway ko04723 http://www.genome.jp/kegg-bin/show_pathway?ko04723 KEGG_Pathway ko04727 http://www.genome.jp/kegg-bin/show_pathway?ko04727 KEGG_Pathway ko05032 http://www.genome.jp/kegg-bin/show_pathway?ko05032 KEGG_Pathway ko05033 http://www.genome.jp/kegg-bin/show_pathway?ko05033 MIM 137162 http://www.ncbi.nlm.nih.gov/omim/137162 OMA DFSMRPA http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=DFSMRPA OrthoDB EOG091G0805 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0805 PANTHER PTHR18945 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR18945 PRINTS PR00252 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00252 PRINTS PR00253 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00253 PRINTS PR01670 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01670 PRINTS PR01672 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01672 PROSITE PS00236 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00236 PSORT swissprot:GBRR2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:GBRR2_HUMAN PSORT-B swissprot:GBRR2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:GBRR2_HUMAN PSORT2 swissprot:GBRR2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:GBRR2_HUMAN Pfam PF02931 http://pfam.xfam.org/family/PF02931 Pfam PF02932 http://pfam.xfam.org/family/PF02932 PharmGKB PA28506 http://www.pharmgkb.org/do/serve?objId=PA28506&objCls=Gene Phobius swissprot:GBRR2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:GBRR2_HUMAN ProteinModelPortal P28476 http://www.proteinmodelportal.org/query/uniprot/P28476 PubMed 1315307 http://www.ncbi.nlm.nih.gov/pubmed/1315307 PubMed 14574404 http://www.ncbi.nlm.nih.gov/pubmed/14574404 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 Reactome R-HSA-975298 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-975298 Reactome R-HSA-977442 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-977442 RefSeq NP_002034 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_002034 SMR P28476 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P28476 STRING 9606.ENSP00000386029 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000386029&targetmode=cogs SUPFAM SSF63712 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF63712 SUPFAM SSF90112 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF90112 TIGRFAMs TIGR00860 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00860 UCSC uc003pnb http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003pnb&org=rat UniGene Hs.379330 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.379330 UniGene Hs.719891 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.719891 UniProtKB GBRR2_HUMAN http://www.uniprot.org/uniprot/GBRR2_HUMAN UniProtKB-AC P28476 http://www.uniprot.org/uniprot/P28476 charge swissprot:GBRR2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:GBRR2_HUMAN eggNOG ENOG410XPWH http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XPWH eggNOG KOG3643 http://eggnogapi.embl.de/nog_data/html/tree/KOG3643 epestfind swissprot:GBRR2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:GBRR2_HUMAN garnier swissprot:GBRR2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:GBRR2_HUMAN helixturnhelix swissprot:GBRR2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:GBRR2_HUMAN hmoment swissprot:GBRR2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:GBRR2_HUMAN iep swissprot:GBRR2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:GBRR2_HUMAN inforesidue swissprot:GBRR2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:GBRR2_HUMAN neXtProt NX_P28476 http://www.nextprot.org/db/entry/NX_P28476 octanol swissprot:GBRR2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:GBRR2_HUMAN pepcoil swissprot:GBRR2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:GBRR2_HUMAN pepdigest swissprot:GBRR2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:GBRR2_HUMAN pepinfo swissprot:GBRR2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:GBRR2_HUMAN pepnet swissprot:GBRR2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:GBRR2_HUMAN pepstats swissprot:GBRR2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:GBRR2_HUMAN pepwheel swissprot:GBRR2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:GBRR2_HUMAN pepwindow swissprot:GBRR2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:GBRR2_HUMAN sigcleave swissprot:GBRR2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:GBRR2_HUMAN ## Database ID URL or Descriptions # AltName KCNK9_HUMAN Acid-sensitive potassium channel protein TASK-3 # AltName KCNK9_HUMAN TWIK-related acid-sensitive K(+) channel 3 # AltName KCNK9_HUMAN Two pore potassium channel KT3.2 # BioGrid 119456 2 # ChiTaRS KCNK9 human # DISEASE KCNK9_HUMAN Birk-Barel mental retardation dysmorphism syndrome (BIBAS) [MIM 612292] A syndrome characterized by mental retardation, hypotonia, hyperactivity, and facial dysmorphism. {ECO 0000269|PubMed 18678320}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DrugBank DB00561 Doxapram # DrugBank DB01159 Halothane # Ensembl ENST00000303015 ENSP00000302166; ENSG00000169427 # Ensembl ENST00000520439 ENSP00000430676; ENSG00000169427 # Ensembl ENST00000522317 ENSP00000429847; ENSG00000169427 # ExpressionAtlas Q9NPC2 baseline and differential # FUNCTION KCNK9_HUMAN pH-dependent, voltage-insensitive, background potassium channel protein. {ECO 0000269|PubMed 11042359, ECO 0000269|PubMed 11431495, ECO 0000269|PubMed 23169818}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0008021 synaptic vesicle; IEA:Ensembl. # GO_function GO:0005249 voltage-gated potassium channel activity; IEA:Ensembl. # GO_function GO:0005267 potassium channel activity; TAS:Reactome. # GO_function GO:0022841 potassium ion leak channel activity; IBA:GO_Central. # GO_process GO:0006813 potassium ion transport; NAS:UniProtKB. # GO_process GO:0030322 stabilization of membrane potential; IBA:GO_Central. # GO_process GO:0071805 potassium ion transmembrane transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0031410 cytoplasmic vesicle # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0055085 transmembrane transport # Genevisible Q9NPC2 HS # HGNC HGNC:6283 KCNK9 # InterPro IPR003092 2pore_dom_K_chnl_TASK # InterPro IPR003280 2pore_dom_K_chnl # InterPro IPR005407 KCNK9 # InterPro IPR013099 K_chnl_dom # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00709 [Developmental disorder; Mental retardation] Birk-Barel syndrome (BIBAS) # MIM 605874 gene # MIM 612292 phenotype # MISCELLANEOUS KCNK9_HUMAN Inhibited by phorbol 12-myristate 13-acetate (PMA). TASK-3 current is strongly decreased in the presence of an extracellular pH inferior to 7.0. # MISCELLANEOUS KCNK9_HUMAN Overexpressed in a high proportion of breast cancers. May confer resistance to growth factor deprivation and hypoxia, thereby promoting tumor cell survival in poorly oxygenated areas of solid tumors. # Organism KCNK9_HUMAN Homo sapiens (Human) # Orphanet 166108 Intellectual disability, Birk-Barel type # PDB 3P1N X-ray; 1.40 A; P=369-374 # PDB 3P1O X-ray; 1.90 A; P=369-374 # PDB 3P1P X-ray; 1.95 A; P=369-374 # PDB 3P1Q X-ray; 1.70 A; P=369-374 # PDB 3P1R X-ray; 1.70 A; P=369-374 # PDB 3P1S X-ray; 1.65 A; P=369-374 # PDB 3SMK X-ray; 2.10 A; P=369-374 # PDB 3SML X-ray; 1.90 A; P=370-374 # PDB 3SMM X-ray; 2.00 A; P=369-374 # PDB 3SMN X-ray; 2.00 A; P=369-374 # PDB 3SMO X-ray; 1.80 A; P=369-374 # PDB 3SP5 X-ray; 1.80 A; P=369-374 # PDB 3SPR X-ray; 1.99 A; P=369-374 # PDB 3UX0 X-ray; 1.75 A; P=369-374 # PDB 4FR3 X-ray; 1.90 A; P=369-374 # PIRSF PIRSF038061 K_channel_subfamily_K_type # PRINTS PR01095 TASKCHANNEL # PRINTS PR01333 2POREKCHANEL # PRINTS PR01585 TASK3CHANNEL # Pfam PF07885 Ion_trans_2; 2 # Proteomes UP000005640 Chromosome 8 # Reactome R-HSA-1299316 TWIK-releated acid-sensitive K+ channel (TASK) # Reactome R-HSA-5576886 Phase 4 - resting membrane potential # RecName KCNK9_HUMAN Potassium channel subfamily K member 9 # RefSeq NP_001269463 NM_001282534.1 # RefSeq XP_011515404 XM_011517102.2 # SIMILARITY Belongs to the two pore domain potassium channel (TC 1.A.1.8) family. {ECO 0000305}. # SUBCELLULAR LOCATION KCNK9_HUMAN Cell membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # SUBUNIT Homodimer (Probable). Heterodimer with KCNK1. {ECO:0000269|PubMed 23169818, ECO:0000305}. # TCDB 1.A.1.9.11 the voltage-gated ion channel (vic) superfamily # TISSUE SPECIFICITY KCNK9_HUMAN Mainly found in the cerebellum. Also found in adrenal gland, kidney and lung. {ECO 0000269|PubMed 11042359, ECO 0000269|PubMed 11431495}. # UCSC uc003yvg human # eggNOG ENOG410XRZJ LUCA # eggNOG KOG4404 Eukaryota BLAST swissprot:KCNK9_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCNK9_HUMAN BioCyc ZFISH:ENSG00000169427-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000169427-MONOMER COXPRESdb 51305 http://coxpresdb.jp/data/gene/51305.shtml CleanEx HS_KCNK9 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNK9 DOI 10.1016/S0169-328X(00)00183-2 http://dx.doi.org/10.1016/S0169-328X(00)00183-2 DOI 10.1016/S1535-6108(03)00054-0 http://dx.doi.org/10.1016/S1535-6108(03)00054-0 DOI 10.1016/j.ajhg.2008.07.010 http://dx.doi.org/10.1016/j.ajhg.2008.07.010 DOI 10.1074/jbc.M000030200 http://dx.doi.org/10.1074/jbc.M000030200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/scisignal.2003431 http://dx.doi.org/10.1126/scisignal.2003431 DrugBank DB00561 http://www.drugbank.ca/drugs/DB00561 DrugBank DB01159 http://www.drugbank.ca/drugs/DB01159 EMBL AF212829 http://www.ebi.ac.uk/ena/data/view/AF212829 EMBL AF248241 http://www.ebi.ac.uk/ena/data/view/AF248241 EMBL AF257080 http://www.ebi.ac.uk/ena/data/view/AF257080 EMBL AF279809 http://www.ebi.ac.uk/ena/data/view/AF279809 EMBL AY190605 http://www.ebi.ac.uk/ena/data/view/AY190605 EMBL BC075079 http://www.ebi.ac.uk/ena/data/view/BC075079 EMBL BC075080 http://www.ebi.ac.uk/ena/data/view/BC075080 EMBL BC112063 http://www.ebi.ac.uk/ena/data/view/BC112063 EMBL BC112065 http://www.ebi.ac.uk/ena/data/view/BC112065 Ensembl ENST00000303015 http://www.ensembl.org/id/ENST00000303015 Ensembl ENST00000520439 http://www.ensembl.org/id/ENST00000520439 Ensembl ENST00000522317 http://www.ensembl.org/id/ENST00000522317 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0008021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008021 GO_function GO:0005249 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005249 GO_function GO:0005267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005267 GO_function GO:0022841 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022841 GO_process GO:0006813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006813 GO_process GO:0030322 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030322 GO_process GO:0071805 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071805 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0031410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards KCNK9 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNK9 GeneID 51305 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=51305 GeneTree ENSGT00760000118858 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118858 HGNC HGNC:6283 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6283 HOGENOM HOG000231463 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231463&db=HOGENOM6 HOVERGEN HBG052239 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052239&db=HOVERGEN HPA HPA059318 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA059318 InParanoid Q9NPC2 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9NPC2 InterPro IPR003092 http://www.ebi.ac.uk/interpro/entry/IPR003092 InterPro IPR003280 http://www.ebi.ac.uk/interpro/entry/IPR003280 InterPro IPR005407 http://www.ebi.ac.uk/interpro/entry/IPR005407 InterPro IPR013099 http://www.ebi.ac.uk/interpro/entry/IPR013099 Jabion 51305 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=51305 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00709 http://www.genome.jp/dbget-bin/www_bget?H00709 KEGG_Gene hsa:51305 http://www.genome.jp/dbget-bin/www_bget?hsa:51305 KEGG_Orthology KO:K04919 http://www.genome.jp/dbget-bin/www_bget?KO:K04919 MIM 605874 http://www.ncbi.nlm.nih.gov/omim/605874 MIM 612292 http://www.ncbi.nlm.nih.gov/omim/612292 OMA NNDAENQ http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=NNDAENQ Orphanet 166108 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=166108 OrthoDB EOG091G08DH http://cegg.unige.ch/orthodb/results?searchtext=EOG091G08DH PDB 3P1N http://www.ebi.ac.uk/pdbe-srv/view/entry/3P1N PDB 3P1O http://www.ebi.ac.uk/pdbe-srv/view/entry/3P1O PDB 3P1P http://www.ebi.ac.uk/pdbe-srv/view/entry/3P1P PDB 3P1Q http://www.ebi.ac.uk/pdbe-srv/view/entry/3P1Q PDB 3P1R http://www.ebi.ac.uk/pdbe-srv/view/entry/3P1R PDB 3P1S http://www.ebi.ac.uk/pdbe-srv/view/entry/3P1S PDB 3SMK http://www.ebi.ac.uk/pdbe-srv/view/entry/3SMK PDB 3SML http://www.ebi.ac.uk/pdbe-srv/view/entry/3SML PDB 3SMM http://www.ebi.ac.uk/pdbe-srv/view/entry/3SMM PDB 3SMN http://www.ebi.ac.uk/pdbe-srv/view/entry/3SMN PDB 3SMO http://www.ebi.ac.uk/pdbe-srv/view/entry/3SMO PDB 3SP5 http://www.ebi.ac.uk/pdbe-srv/view/entry/3SP5 PDB 3SPR http://www.ebi.ac.uk/pdbe-srv/view/entry/3SPR PDB 3UX0 http://www.ebi.ac.uk/pdbe-srv/view/entry/3UX0 PDB 4FR3 http://www.ebi.ac.uk/pdbe-srv/view/entry/4FR3 PDBsum 3P1N http://www.ebi.ac.uk/pdbsum/3P1N PDBsum 3P1O http://www.ebi.ac.uk/pdbsum/3P1O PDBsum 3P1P http://www.ebi.ac.uk/pdbsum/3P1P PDBsum 3P1Q http://www.ebi.ac.uk/pdbsum/3P1Q PDBsum 3P1R http://www.ebi.ac.uk/pdbsum/3P1R PDBsum 3P1S http://www.ebi.ac.uk/pdbsum/3P1S PDBsum 3SMK http://www.ebi.ac.uk/pdbsum/3SMK PDBsum 3SML http://www.ebi.ac.uk/pdbsum/3SML PDBsum 3SMM http://www.ebi.ac.uk/pdbsum/3SMM PDBsum 3SMN http://www.ebi.ac.uk/pdbsum/3SMN PDBsum 3SMO http://www.ebi.ac.uk/pdbsum/3SMO PDBsum 3SP5 http://www.ebi.ac.uk/pdbsum/3SP5 PDBsum 3SPR http://www.ebi.ac.uk/pdbsum/3SPR PDBsum 3UX0 http://www.ebi.ac.uk/pdbsum/3UX0 PDBsum 4FR3 http://www.ebi.ac.uk/pdbsum/4FR3 PRINTS PR01095 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01095 PRINTS PR01333 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01333 PRINTS PR01585 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01585 PSORT swissprot:KCNK9_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCNK9_HUMAN PSORT-B swissprot:KCNK9_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCNK9_HUMAN PSORT2 swissprot:KCNK9_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCNK9_HUMAN Pfam PF07885 http://pfam.xfam.org/family/PF07885 PharmGKB PA30065 http://www.pharmgkb.org/do/serve?objId=PA30065&objCls=Gene Phobius swissprot:KCNK9_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCNK9_HUMAN PhylomeDB Q9NPC2 http://phylomedb.org/?seqid=Q9NPC2 ProteinModelPortal Q9NPC2 http://www.proteinmodelportal.org/query/uniprot/Q9NPC2 PubMed 10747866 http://www.ncbi.nlm.nih.gov/pubmed/10747866 PubMed 11042359 http://www.ncbi.nlm.nih.gov/pubmed/11042359 PubMed 11431495 http://www.ncbi.nlm.nih.gov/pubmed/11431495 PubMed 12676587 http://www.ncbi.nlm.nih.gov/pubmed/12676587 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 18678320 http://www.ncbi.nlm.nih.gov/pubmed/18678320 PubMed 23169818 http://www.ncbi.nlm.nih.gov/pubmed/23169818 Reactome R-HSA-1299316 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1299316 Reactome R-HSA-5576886 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5576886 RefSeq NP_001269463 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001269463 RefSeq XP_011515404 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011515404 SMR Q9NPC2 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9NPC2 STRING 9606.ENSP00000302166 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000302166&targetmode=cogs TCDB 1.A.1.9.11 http://www.tcdb.org/search/result.php?tc=1.A.1.9.11 UCSC uc003yvg http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003yvg&org=rat UniGene Hs.493037 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.493037 UniGene Hs.553147 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.553147 UniGene Hs.664608 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.664608 UniProtKB KCNK9_HUMAN http://www.uniprot.org/uniprot/KCNK9_HUMAN UniProtKB-AC Q9NPC2 http://www.uniprot.org/uniprot/Q9NPC2 charge swissprot:KCNK9_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCNK9_HUMAN eggNOG ENOG410XRZJ http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XRZJ eggNOG KOG4404 http://eggnogapi.embl.de/nog_data/html/tree/KOG4404 epestfind swissprot:KCNK9_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCNK9_HUMAN garnier swissprot:KCNK9_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCNK9_HUMAN helixturnhelix swissprot:KCNK9_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCNK9_HUMAN hmoment swissprot:KCNK9_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCNK9_HUMAN iep swissprot:KCNK9_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCNK9_HUMAN inforesidue swissprot:KCNK9_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCNK9_HUMAN neXtProt NX_Q9NPC2 http://www.nextprot.org/db/entry/NX_Q9NPC2 octanol swissprot:KCNK9_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCNK9_HUMAN pepcoil swissprot:KCNK9_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCNK9_HUMAN pepdigest swissprot:KCNK9_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCNK9_HUMAN pepinfo swissprot:KCNK9_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCNK9_HUMAN pepnet swissprot:KCNK9_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCNK9_HUMAN pepstats swissprot:KCNK9_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCNK9_HUMAN pepwheel swissprot:KCNK9_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCNK9_HUMAN pepwindow swissprot:KCNK9_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCNK9_HUMAN sigcleave swissprot:KCNK9_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCNK9_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S6A15_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9H2J7-1; Sequence=Displayed; Name=2; IsoId=Q9H2J7-2; Sequence=VSP_043030, VSP_043031; Note=No experimental confirmation available.; Name=3; IsoId=Q9H2J7-3; Sequence=VSP_045192; Note=No experimental confirmation available.; # AltName S6A15_HUMAN Sodium- and chloride-dependent neurotransmitter transporter NTT73 # AltName S6A15_HUMAN Sodium-coupled branched-chain amino-acid transporter 1 # AltName S6A15_HUMAN Solute carrier family 6 member 15 # AltName S6A15_HUMAN Transporter v7-3 # BIOPHYSICOCHEMICAL PROPERTIES S6A15_HUMAN Kinetic parameters KM=0.16 mM for L-leucine (at pH 7.5, 100 mM NaCL, -70 mV) {ECO 0000269|PubMed 16226721}; KM=0.16 mM for L-valine (at pH 7.5, 100 mM NaCL, -70 mV)) {ECO 0000269|PubMed 16226721}; KM=0.08 mM for L-isoleucine (at pH 7.5, 100 mM NaCL, -70 mV) {ECO 0000269|PubMed 16226721}; KM=0.11 mM for L-methionine (at pH 7.5, 100 mM NaCL, -70 mV) {ECO 0000269|PubMed 16226721}; KM=0.38 mM for L-proline (at pH 7.5, 100 mM NaCL, -70 mV) {ECO 0000269|PubMed 16226721}; pH dependence Optimum pH is 7.5-8.5. Strongly inhibited at acidic PH. {ECO 0000269|PubMed 16226721}; # BioGrid 120426 27 # CCDS CCDS53816 -. [Q9H2J7-3] # CCDS CCDS9026 -. [Q9H2J7-1] # CCDS CCDS9027 -. [Q9H2J7-2] # ChiTaRS SLC6A15 human # Ensembl ENST00000266682 ENSP00000266682; ENSG00000072041. [Q9H2J7-1] # Ensembl ENST00000450363 ENSP00000390706; ENSG00000072041. [Q9H2J7-2] # Ensembl ENST00000552192 ENSP00000450145; ENSG00000072041. [Q9H2J7-3] # ExpressionAtlas Q9H2J7 baseline and differential # FUNCTION S6A15_HUMAN Functions as a sodium-dependent neutral amino acid transporter. Exhibits preference for the branched-chain amino acids, particularly leucine, valine and isoleucine and methionine. Mediates the saturable, pH-sensitive and electrogenic cotransport of proline and sodium ions with a stoichiometry of 1 1. May have a role as transporter for neurotransmitter precursors into neurons. In contrast to other members of the neurotransmitter transporter family, does not appear to be chloride-dependent. {ECO 0000269|PubMed 16226721}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0016021 integral component of membrane; NAS:UniProtKB. # GO_function GO:0005326 neurotransmitter transporter activity; NAS:UniProtKB. # GO_function GO:0015171 amino acid transmembrane transporter activity; TAS:Reactome. # GO_function S6A15_HUMAN GO 0005298 proline sodium symporter activity; IBA GO_Central. # GO_function S6A15_HUMAN GO 0005328 neurotransmitter sodium symporter activity; IEA InterPro. # GO_process GO:0006836 neurotransmitter transport; NAS:UniProtKB. # GO_process GO:0006865 amino acid transport; TAS:Reactome. # GO_process GO:0015804 neutral amino acid transport; IDA:UniProtKB. # GO_process GO:0015820 leucine transport; ISS:UniProtKB. # GO_process GO:0015824 proline transport; ISS:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # Genevisible Q9H2J7 HS # HGNC HGNC:13621 SLC6A15 # IntAct Q9H2J7 2 # InterPro IPR000175 Na/ntran_symport # InterPro IPR002438 Na/ntran_symport_orphan # KEGG_Brite ko02001 Solute carrier family # KEGG_Brite ko04040 Ion channels # MIM 607971 gene # Organism S6A15_HUMAN Homo sapiens (Human) # PANTHER PTHR11616 PTHR11616; 2 # PRINTS PR00176 NANEUSMPORT # PRINTS PR01206 ORPHTRNSPORT # PROSITE PS00610 NA_NEUROTRAN_SYMP_1 # PROSITE PS00754 NA_NEUROTRAN_SYMP_2 # PROSITE PS50267 NA_NEUROTRAN_SYMP_3 # Pfam PF00209 SNF # Proteomes UP000005640 Chromosome 12 # Reactome R-HSA-352230 Amino acid transport across the plasma membrane # Reactome R-HSA-442660 Na+/Cl- dependent neurotransmitter transporters # RecName S6A15_HUMAN Sodium-dependent neutral amino acid transporter B(0)AT2 # RefSeq NP_001139807 NM_001146335.2. [Q9H2J7-3] # RefSeq NP_060527 NM_018057.6. [Q9H2J7-2] # RefSeq NP_877499 NM_182767.5. [Q9H2J7-1] # SIMILARITY Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A15 subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION S6A15_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # TCDB 2.A.22.6:the neurotransmitter sodium symporter (nss) family # TISSUE SPECIFICITY Almost exclusively expressed in the brain. {ECO:0000269|PubMed 16226721}. # UCSC uc001szv human. [Q9H2J7-1] # eggNOG COG0733 LUCA # eggNOG KOG3659 Eukaryota BLAST swissprot:S6A15_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S6A15_HUMAN BioCyc ZFISH:ENSG00000072041-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000072041-MONOMER COXPRESdb 55117 http://coxpresdb.jp/data/gene/55117.shtml CleanEx HS_SLC6A15 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC6A15 DOI 10.1006/geno.2000.6387 http://dx.doi.org/10.1006/geno.2000.6387 DOI 10.1016/j.bbrc.2005.09.128 http://dx.doi.org/10.1016/j.bbrc.2005.09.128 DOI 10.1016/j.molcel.2008.07.007 http://dx.doi.org/10.1016/j.molcel.2008.07.007 DOI 10.1021/ac9004309 http://dx.doi.org/10.1021/ac9004309 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature04569 http://dx.doi.org/10.1038/nature04569 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.1210303109 http://dx.doi.org/10.1073/pnas.1210303109 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/scisignal.2001570 http://dx.doi.org/10.1126/scisignal.2001570 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AC018922 http://www.ebi.ac.uk/ena/data/view/AC018922 EMBL AC128657 http://www.ebi.ac.uk/ena/data/view/AC128657 EMBL AF265577 http://www.ebi.ac.uk/ena/data/view/AF265577 EMBL AK022853 http://www.ebi.ac.uk/ena/data/view/AK022853 EMBL AK291207 http://www.ebi.ac.uk/ena/data/view/AK291207 EMBL AK294945 http://www.ebi.ac.uk/ena/data/view/AK294945 EMBL BC070040 http://www.ebi.ac.uk/ena/data/view/BC070040 EMBL CH471054 http://www.ebi.ac.uk/ena/data/view/CH471054 Ensembl ENST00000266682 http://www.ensembl.org/id/ENST00000266682 Ensembl ENST00000450363 http://www.ensembl.org/id/ENST00000450363 Ensembl ENST00000552192 http://www.ensembl.org/id/ENST00000552192 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0005298 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005298 GO_function GO:0005326 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005326 GO_function GO:0005328 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005328 GO_function GO:0015171 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015171 GO_process GO:0006836 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006836 GO_process GO:0006865 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006865 GO_process GO:0015804 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015804 GO_process GO:0015820 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015820 GO_process GO:0015824 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015824 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GeneCards SLC6A15 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC6A15 GeneID 55117 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=55117 GeneTree ENSGT00760000119044 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119044 HGNC HGNC:13621 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:13621 HOGENOM HOG000116406 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000116406&db=HOGENOM6 HOVERGEN HBG071421 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG071421&db=HOVERGEN HPA HPA008609 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA008609 InParanoid Q9H2J7 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9H2J7 IntAct Q9H2J7 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9H2J7* InterPro IPR000175 http://www.ebi.ac.uk/interpro/entry/IPR000175 InterPro IPR002438 http://www.ebi.ac.uk/interpro/entry/IPR002438 Jabion 55117 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=55117 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:55117 http://www.genome.jp/dbget-bin/www_bget?hsa:55117 KEGG_Orthology KO:K05048 http://www.genome.jp/dbget-bin/www_bget?KO:K05048 MIM 607971 http://www.ncbi.nlm.nih.gov/omim/607971 OMA AWVVVCL http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=AWVVVCL OrthoDB EOG091G08PX http://cegg.unige.ch/orthodb/results?searchtext=EOG091G08PX PANTHER PTHR11616 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11616 PRINTS PR00176 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00176 PRINTS PR01206 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01206 PROSITE PS00610 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00610 PROSITE PS00754 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00754 PROSITE PS50267 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50267 PSORT swissprot:S6A15_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S6A15_HUMAN PSORT-B swissprot:S6A15_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S6A15_HUMAN PSORT2 swissprot:S6A15_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S6A15_HUMAN Pfam PF00209 http://pfam.xfam.org/family/PF00209 PharmGKB PA37799 http://www.pharmgkb.org/do/serve?objId=PA37799&objCls=Gene Phobius swissprot:S6A15_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S6A15_HUMAN PhylomeDB Q9H2J7 http://phylomedb.org/?seqid=Q9H2J7 ProteinModelPortal Q9H2J7 http://www.proteinmodelportal.org/query/uniprot/Q9H2J7 PubMed 11112352 http://www.ncbi.nlm.nih.gov/pubmed/11112352 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16226721 http://www.ncbi.nlm.nih.gov/pubmed/16226721 PubMed 16541075 http://www.ncbi.nlm.nih.gov/pubmed/16541075 PubMed 18691976 http://www.ncbi.nlm.nih.gov/pubmed/18691976 PubMed 19413330 http://www.ncbi.nlm.nih.gov/pubmed/19413330 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 21406692 http://www.ncbi.nlm.nih.gov/pubmed/21406692 PubMed 22814378 http://www.ncbi.nlm.nih.gov/pubmed/22814378 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 Reactome R-HSA-352230 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-352230 Reactome R-HSA-442660 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-442660 RefSeq NP_001139807 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001139807 RefSeq NP_060527 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_060527 RefSeq NP_877499 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_877499 STRING 9606.ENSP00000266682 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000266682&targetmode=cogs TCDB 2.A.22.6 http://www.tcdb.org/search/result.php?tc=2.A.22.6 UCSC uc001szv http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001szv&org=rat UniGene Hs.44424 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.44424 UniGene Hs.680104 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.680104 UniProtKB S6A15_HUMAN http://www.uniprot.org/uniprot/S6A15_HUMAN UniProtKB-AC Q9H2J7 http://www.uniprot.org/uniprot/Q9H2J7 charge swissprot:S6A15_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S6A15_HUMAN eggNOG COG0733 http://eggnogapi.embl.de/nog_data/html/tree/COG0733 eggNOG KOG3659 http://eggnogapi.embl.de/nog_data/html/tree/KOG3659 epestfind swissprot:S6A15_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S6A15_HUMAN garnier swissprot:S6A15_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S6A15_HUMAN helixturnhelix swissprot:S6A15_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S6A15_HUMAN hmoment swissprot:S6A15_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S6A15_HUMAN iep swissprot:S6A15_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S6A15_HUMAN inforesidue swissprot:S6A15_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S6A15_HUMAN neXtProt NX_Q9H2J7 http://www.nextprot.org/db/entry/NX_Q9H2J7 octanol swissprot:S6A15_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S6A15_HUMAN pepcoil swissprot:S6A15_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S6A15_HUMAN pepdigest swissprot:S6A15_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S6A15_HUMAN pepinfo swissprot:S6A15_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S6A15_HUMAN pepnet swissprot:S6A15_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S6A15_HUMAN pepstats swissprot:S6A15_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S6A15_HUMAN pepwheel swissprot:S6A15_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S6A15_HUMAN pepwindow swissprot:S6A15_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S6A15_HUMAN sigcleave swissprot:S6A15_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S6A15_HUMAN ## Database ID URL or Descriptions # AltName SL9A5_HUMAN Na(+)/H(+) exchanger 5 # AltName SL9A5_HUMAN Solute carrier family 9 member 5 # BioGrid 112442 5 # CAUTION The number, localization and denomination of hydrophobic domains in the Na(+)/H(+) exchangers vary among authors. {ECO 0000305}. # Ensembl ENST00000299798 ENSP00000299798; ENSG00000135740 # ExpressionAtlas Q14940 baseline and differential # FUNCTION SL9A5_HUMAN Involved in pH regulation to eliminate acids generated by active metabolism or to counter adverse environmental conditions. Major proton extruding system driven by the inward sodium ion chemical gradient. Plays an important role in signal transduction (By similarity). {ECO 0000250}. # GO_component GO:0005886 plasma membrane; IBA:GO_Central. # GO_component GO:0016021 integral component of membrane; TAS:ProtInc. # GO_function SL9A5_HUMAN GO 0015385 sodium proton antiporter activity; TAS Reactome. # GO_function SL9A5_HUMAN GO 0015386 potassium proton antiporter activity; IBA GO_Central. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0006811 ion transport; TAS:Reactome. # GO_process GO:0051453 regulation of intracellular pH; IBA:GO_Central. # GO_process GO:0071805 potassium ion transmembrane transport; IBA:GO_Central. # GO_process GO:0098719 sodium ion import across plasma membrane; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Genevisible Q14940 HS # HGNC HGNC:11078 SLC9A5 # InterPro IPR004709 NaH_exchanger # InterPro IPR006153 Cation/H_exchanger # InterPro IPR018410 Na/H_exchanger_3/5 # InterPro IPR018422 Cation/H_exchanger_CPA1 # KEGG_Brite ko02001 Solute carrier family # MIM 600477 gene # Organism SL9A5_HUMAN Homo sapiens (Human) # PANTHER PTHR10110 PTHR10110; 3 # PRINTS PR01084 NAHEXCHNGR # PRINTS PR01087 NAHEXCHNGR3 # PTM SL9A5_HUMAN Phosphorylated (Possible). # Pfam PF00999 Na_H_Exchanger # Proteomes UP000005640 Chromosome 16 # Reactome R-HSA-425986 Sodium/Proton exchangers # RecName SL9A5_HUMAN Sodium/hydrogen exchanger 5 # RefSeq NP_004585 NM_004594.2 # SIMILARITY Belongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family. {ECO 0000305}. # SUBCELLULAR LOCATION SL9A5_HUMAN Membrane; Multi-pass membrane protein. # SUBUNIT Interacts with CHP1 and CHP2 (By similarity). Interacts with ARRB2. {ECO:0000250, ECO 0000269|PubMed:15699339}. # TCDB 2.A.36.1.16:the monovalent cation proton antiporter-1 (cpa1) family # TIGRFAMs TIGR00840 b_cpa1 # TISSUE SPECIFICITY SL9A5_HUMAN Expressed in brain, testis, spleen, and skeletal muscle. # UCSC uc002esm human # eggNOG COG0025 LUCA # eggNOG KOG1966 Eukaryota BLAST swissprot:SL9A5_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SL9A5_HUMAN BioCyc ZFISH:ENSG00000135740-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000135740-MONOMER COXPRESdb 6553 http://coxpresdb.jp/data/gene/6553.shtml CleanEx HS_SLC9A5 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC9A5 DOI 10.1016/0888-7543(95)80002-4 http://dx.doi.org/10.1016/0888-7543(95)80002-4 DOI 10.1073/pnas.0407444102 http://dx.doi.org/10.1073/pnas.0407444102 DOI 10.1074/jbc.274.7.4377 http://dx.doi.org/10.1074/jbc.274.7.4377 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AF111173 http://www.ebi.ac.uk/ena/data/view/AF111173 EMBL BC142671 http://www.ebi.ac.uk/ena/data/view/BC142671 EMBL CH471092 http://www.ebi.ac.uk/ena/data/view/CH471092 EMBL U08607 http://www.ebi.ac.uk/ena/data/view/U08607 Ensembl ENST00000299798 http://www.ensembl.org/id/ENST00000299798 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0015385 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015385 GO_function GO:0015386 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015386 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0006811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006811 GO_process GO:0051453 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051453 GO_process GO:0071805 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071805 GO_process GO:0098719 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0098719 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC9A5 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC9A5 GeneID 6553 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6553 GeneTree ENSGT00760000119074 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119074 HGNC HGNC:11078 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11078 HOGENOM HOG000247044 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000247044&db=HOGENOM6 HOVERGEN HBG052615 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052615&db=HOVERGEN HPA HPA041004 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA041004 HPA HPA041329 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA041329 InParanoid Q14940 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q14940 IntAct Q14940 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q14940* InterPro IPR004709 http://www.ebi.ac.uk/interpro/entry/IPR004709 InterPro IPR006153 http://www.ebi.ac.uk/interpro/entry/IPR006153 InterPro IPR018410 http://www.ebi.ac.uk/interpro/entry/IPR018410 InterPro IPR018422 http://www.ebi.ac.uk/interpro/entry/IPR018422 Jabion 6553 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6553 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:6553 http://www.genome.jp/dbget-bin/www_bget?hsa:6553 KEGG_Orthology KO:K14723 http://www.genome.jp/dbget-bin/www_bget?KO:K14723 MIM 600477 http://www.ncbi.nlm.nih.gov/omim/600477 OMA IPQQQEL http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=IPQQQEL OrthoDB EOG091G02Q0 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G02Q0 PANTHER PTHR10110 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10110 PRINTS PR01084 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01084 PRINTS PR01087 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01087 PSORT swissprot:SL9A5_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SL9A5_HUMAN PSORT-B swissprot:SL9A5_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SL9A5_HUMAN PSORT2 swissprot:SL9A5_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SL9A5_HUMAN Pfam PF00999 http://pfam.xfam.org/family/PF00999 PharmGKB PA35934 http://www.pharmgkb.org/do/serve?objId=PA35934&objCls=Gene Phobius swissprot:SL9A5_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SL9A5_HUMAN PhylomeDB Q14940 http://phylomedb.org/?seqid=Q14940 ProteinModelPortal Q14940 http://www.proteinmodelportal.org/query/uniprot/Q14940 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15699339 http://www.ncbi.nlm.nih.gov/pubmed/15699339 PubMed 7759094 http://www.ncbi.nlm.nih.gov/pubmed/7759094 PubMed 9933641 http://www.ncbi.nlm.nih.gov/pubmed/9933641 Reactome R-HSA-425986 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-425986 RefSeq NP_004585 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004585 SMR Q14940 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q14940 STRING 9606.ENSP00000299798 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000299798&targetmode=cogs TCDB 2.A.36.1.16 http://www.tcdb.org/search/result.php?tc=2.A.36.1.16 TIGRFAMs TIGR00840 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00840 UCSC uc002esm http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002esm&org=rat UniGene Hs.439650 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.439650 UniProtKB SL9A5_HUMAN http://www.uniprot.org/uniprot/SL9A5_HUMAN UniProtKB-AC Q14940 http://www.uniprot.org/uniprot/Q14940 charge swissprot:SL9A5_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SL9A5_HUMAN eggNOG COG0025 http://eggnogapi.embl.de/nog_data/html/tree/COG0025 eggNOG KOG1966 http://eggnogapi.embl.de/nog_data/html/tree/KOG1966 epestfind swissprot:SL9A5_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SL9A5_HUMAN garnier swissprot:SL9A5_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SL9A5_HUMAN helixturnhelix swissprot:SL9A5_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SL9A5_HUMAN hmoment swissprot:SL9A5_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SL9A5_HUMAN iep swissprot:SL9A5_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SL9A5_HUMAN inforesidue swissprot:SL9A5_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SL9A5_HUMAN neXtProt NX_Q14940 http://www.nextprot.org/db/entry/NX_Q14940 octanol swissprot:SL9A5_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SL9A5_HUMAN pepcoil swissprot:SL9A5_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SL9A5_HUMAN pepdigest swissprot:SL9A5_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SL9A5_HUMAN pepinfo swissprot:SL9A5_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SL9A5_HUMAN pepnet swissprot:SL9A5_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SL9A5_HUMAN pepstats swissprot:SL9A5_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SL9A5_HUMAN pepwheel swissprot:SL9A5_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SL9A5_HUMAN pepwindow swissprot:SL9A5_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SL9A5_HUMAN sigcleave swissprot:SL9A5_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SL9A5_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS Event=Alternative splicing; Named isoforms=2; Name=Alpha; IsoId=P10415-1; Sequence=Displayed; Name=Beta; IsoId=P10415-2; Sequence=VSP_000512; Note=Ref.1 (AAA51814) sequence is in conflict in position: 199 L->S. {ECO:0000305}; # BioGrid 107068 98 # CCDS CCDS11981 -. [P10415-1] # CCDS CCDS45882 -. [P10415-2] # ChiTaRS BCL2 human # DISEASE BCL2_HUMAN Note=A chromosomal aberration involving BCL2 has been found in chronic lymphatic leukemia. Translocation t(14;18)(q32;q21) with immunoglobulin gene regions. BCL2 mutations found in non-Hodgkin lymphomas carrying the chromosomal translocation could be attributed to the Ig somatic hypermutation mechanism resulting in nucleotide transitions. {ECO 0000269|PubMed 2875799, ECO 0000269|PubMed 3285301}. # DOMAIN BCL2_HUMAN BH1 and BH2 domains are required for the interaction with BAX and for anti-apoptotic activity. {ECO 0000269|PubMed 8183370}. # DOMAIN BCL2_HUMAN The BH4 motif is required for anti-apoptotic activity and for interaction with RAF1 and EGLN3. # DOMAIN BCL2_HUMAN The loop between motifs BH4 and BH3 is required for the interaction with NLRP1. {ECO 0000269|PubMed 17418785}. # DrugBank DB01050 Ibuprofen # DrugBank DB01229 Paclitaxel # DrugBank DB01248 Docetaxel # DrugBank DB01367 Rasagiline # Ensembl ENST00000333681 ENSP00000329623; ENSG00000171791. [P10415-1] # Ensembl ENST00000398117 ENSP00000381185; ENSG00000171791. [P10415-1] # Ensembl ENST00000589955 ENSP00000466417; ENSG00000171791. [P10415-2] # ExpressionAtlas P10415 baseline and differential # FUNCTION BCL2_HUMAN Suppresses apoptosis in a variety of cell systems including factor-dependent lymphohematopoietic and neural cells. Regulates cell death by controlling the mitochondrial membrane permeability. Appears to function in a feedback loop system with caspases. Inhibits caspase activity either by preventing the release of cytochrome c from the mitochondria and/or by binding to the apoptosis-activating factor (APAF-1). May attenuate inflammation by impairing NLRP1-inflammasome activation, hence CASP1 activation and IL1B release (PubMed 17418785). {ECO 0000269|PubMed 17418785, ECO 0000269|PubMed 18570871}. # GO_component GO:0005634 nucleus; IDA:MGI. # GO_component GO:0005737 cytoplasm; IDA:UniProtKB. # GO_component GO:0005739 mitochondrion; IDA:UniProtKB. # GO_component GO:0005741 mitochondrial outer membrane; IDA:UniProtKB. # GO_component GO:0005783 endoplasmic reticulum; IDA:UniProtKB. # GO_component GO:0005789 endoplasmic reticulum membrane; IEA:UniProtKB-SubCell. # GO_component GO:0005829 cytosol; IEA:Ensembl. # GO_component GO:0016020 membrane; IDA:MGI. # GO_component GO:0031965 nuclear membrane; IDA:UniProtKB. # GO_component GO:0043209 myelin sheath; IEA:Ensembl. # GO_component GO:0046930 pore complex; IDA:BHF-UCL. # GO_function GO:0002020 protease binding; IDA:UniProtKB. # GO_function GO:0015267 channel activity; IDA:BHF-UCL. # GO_function GO:0016248 channel inhibitor activity; IDA:BHF-UCL. # GO_function GO:0031625 ubiquitin protein ligase binding; IPI:UniProtKB. # GO_function GO:0042803 protein homodimerization activity; IPI:UniProtKB. # GO_function GO:0043565 sequence-specific DNA binding; IDA:MGI. # GO_function GO:0046982 protein heterodimerization activity; IPI:UniProtKB. # GO_function GO:0051434 BH3 domain binding; IPI:UniProtKB. # GO_process GO:0000209 protein polyubiquitination; IDA:MGI. # GO_process GO:0001503 ossification; IEA:Ensembl. # GO_process GO:0001541 ovarian follicle development; IEA:Ensembl. # GO_process GO:0001656 metanephros development; IEA:Ensembl. # GO_process GO:0001658 branching involved in ureteric bud morphogenesis; IEA:Ensembl. # GO_process GO:0001662 behavioral fear response; IEA:Ensembl. # GO_process GO:0001782 B cell homeostasis; IEA:Ensembl. # GO_process GO:0001836 release of cytochrome c from mitochondria; NAS:UniProtKB. # GO_process GO:0001952 regulation of cell-matrix adhesion; IEA:Ensembl. # GO_process GO:0002320 lymphoid progenitor cell differentiation; IEA:Ensembl. # GO_process GO:0002326 B cell lineage commitment; IEA:Ensembl. # GO_process GO:0002931 response to ischemia; IEA:Ensembl. # GO_process GO:0003014 renal system process; IEA:Ensembl. # GO_process GO:0006470 protein dephosphorylation; IEA:Ensembl. # GO_process GO:0006582 melanin metabolic process; IEA:Ensembl. # GO_process GO:0006808 regulation of nitrogen utilization; IEA:Ensembl. # GO_process GO:0006915 apoptotic process; IDA:MGI. # GO_process GO:0006959 humoral immune response; TAS:UniProtKB. # GO_process GO:0006974 cellular response to DNA damage stimulus; IMP:UniProtKB. # GO_process GO:0007015 actin filament organization; IEA:Ensembl. # GO_process GO:0007409 axonogenesis; IEA:Ensembl. # GO_process GO:0007565 female pregnancy; NAS:UniProtKB. # GO_process GO:0007569 cell aging; IEA:Ensembl. # GO_process GO:0008584 male gonad development; IEA:Ensembl. # GO_process GO:0008625 extrinsic apoptotic signaling pathway via death domain receptors; IDA:MGI. # GO_process GO:0008630 intrinsic apoptotic signaling pathway in response to DNA damage; IBA:GO_Central. # GO_process GO:0008631 intrinsic apoptotic signaling pathway in response to oxidative stress; IEA:Ensembl. # GO_process GO:0009314 response to radiation; NAS:UniProtKB. # GO_process GO:0009636 response to toxic substance; IDA:HGNC. # GO_process GO:0009791 post-embryonic development; IEA:Ensembl. # GO_process GO:0010039 response to iron ion; IDA:UniProtKB. # GO_process GO:0010224 response to UV-B; IEA:Ensembl. # GO_process GO:0010332 response to gamma radiation; IEA:Ensembl. # GO_process GO:0010468 regulation of gene expression; IEA:Ensembl. # GO_process GO:0010507 negative regulation of autophagy; TAS:UniProtKB. # GO_process GO:0010523 negative regulation of calcium ion transport into cytosol; IEA:Ensembl. # GO_process GO:0010559 regulation of glycoprotein biosynthetic process; IEA:Ensembl. # GO_process GO:0014031 mesenchymal cell development; IEA:Ensembl. # GO_process GO:0014042 positive regulation of neuron maturation; IEA:Ensembl. # GO_process GO:0014911 positive regulation of smooth muscle cell migration; IEA:Ensembl. # GO_process GO:0016049 cell growth; IEA:Ensembl. # GO_process GO:0018105 peptidyl-serine phosphorylation; IEA:Ensembl. # GO_process GO:0018107 peptidyl-threonine phosphorylation; IEA:Ensembl. # GO_process GO:0021747 cochlear nucleus development; IEA:Ensembl. # GO_process GO:0022612 gland morphogenesis; IEA:Ensembl. # GO_process GO:0022898 regulation of transmembrane transporter activity; IDA:BHF-UCL. # GO_process GO:0030279 negative regulation of ossification; IEA:Ensembl. # GO_process GO:0030307 positive regulation of cell growth; IDA:MGI. # GO_process GO:0030308 negative regulation of cell growth; IEA:Ensembl. # GO_process GO:0030318 melanocyte differentiation; IEA:Ensembl. # GO_process GO:0030336 negative regulation of cell migration; IEA:Ensembl. # GO_process GO:0030890 positive regulation of B cell proliferation; IMP:UniProtKB. # GO_process GO:0031069 hair follicle morphogenesis; IEA:Ensembl. # GO_process GO:0031103 axon regeneration; IEA:Ensembl. # GO_process GO:0031647 regulation of protein stability; IEA:Ensembl. # GO_process GO:0032469 endoplasmic reticulum calcium ion homeostasis; TAS:UniProtKB. # GO_process GO:0032835 glomerulus development; IEA:Ensembl. # GO_process GO:0032848 negative regulation of cellular pH reduction; IDA:UniProtKB. # GO_process GO:0033033 negative regulation of myeloid cell apoptotic process; IEA:Ensembl. # GO_process GO:0033077 T cell differentiation in thymus; IEA:Ensembl. # GO_process GO:0033138 positive regulation of peptidyl-serine phosphorylation; IEA:Ensembl. # GO_process GO:0033689 negative regulation of osteoblast proliferation; IEA:Ensembl. # GO_process GO:0034097 response to cytokine; IDA:MGI. # GO_process GO:0035094 response to nicotine; IDA:UniProtKB. # GO_process GO:0035265 organ growth; IEA:Ensembl. # GO_process GO:0040018 positive regulation of multicellular organism growth; IEA:Ensembl. # GO_process GO:0042100 B cell proliferation; IDA:MGI. # GO_process GO:0042149 cellular response to glucose starvation; IEA:Ensembl. # GO_process GO:0042493 response to drug; IMP:UniProtKB. # GO_process GO:0042542 response to hydrogen peroxide; IEA:Ensembl. # GO_process GO:0043029 T cell homeostasis; IEA:Ensembl. # GO_process GO:0043066 negative regulation of apoptotic process; IDA:UniProtKB. # GO_process GO:0043085 positive regulation of catalytic activity; IEA:Ensembl. # GO_process GO:0043375 CD8-positive, alpha-beta T cell lineage commitment; IEA:Ensembl. # GO_process GO:0043496 regulation of protein homodimerization activity; IDA:UniProtKB. # GO_process GO:0043497 regulation of protein heterodimerization activity; IDA:UniProtKB. # GO_process GO:0043524 negative regulation of neuron apoptotic process; IDA:MGI. # GO_process GO:0043583 ear development; IEA:Ensembl. # GO_process GO:0045069 regulation of viral genome replication; IEA:Ensembl. # GO_process GO:0045636 positive regulation of melanocyte differentiation; IEA:Ensembl. # GO_process GO:0046671 negative regulation of retinal cell programmed cell death; IEA:Ensembl. # GO_process GO:0046902 regulation of mitochondrial membrane permeability; ISS:HGNC. # GO_process GO:0048041 focal adhesion assembly; IEA:Ensembl. # GO_process GO:0048536 spleen development; IEA:Ensembl. # GO_process GO:0048538 thymus development; IEA:Ensembl. # GO_process GO:0048546 digestive tract morphogenesis; IEA:Ensembl. # GO_process GO:0048599 oocyte development; IEA:Ensembl. # GO_process GO:0048743 positive regulation of skeletal muscle fiber development; IEA:Ensembl. # GO_process GO:0048753 pigment granule organization; IEA:Ensembl. # GO_process GO:0048873 homeostasis of number of cells within a tissue; IEA:Ensembl. # GO_process GO:0050853 B cell receptor signaling pathway; IMP:UniProtKB. # GO_process GO:0051384 response to glucocorticoid; IEA:Ensembl. # GO_process GO:0051402 neuron apoptotic process; TAS:HGNC. # GO_process GO:0051607 defense response to virus; IDA:UniProtKB. # GO_process GO:0051881 regulation of mitochondrial membrane potential; ISS:HGNC. # GO_process GO:0051902 negative regulation of mitochondrial depolarization; TAS:UniProtKB. # GO_process GO:0051924 regulation of calcium ion transport; IDA:MGI. # GO_process GO:0070059 intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress; IDA:MGI. # GO_process GO:0071310 cellular response to organic substance; IEA:Ensembl. # GO_process GO:0071456 cellular response to hypoxia; IEA:Ensembl. # GO_process GO:0072593 reactive oxygen species metabolic process; IEA:Ensembl. # GO_process GO:0097192 extrinsic apoptotic signaling pathway in absence of ligand; IEA:Ensembl. # GO_process GO:1900740 positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway; TAS:Reactome. # GO_process GO:2000134 negative regulation of G1/S transition of mitotic cell cycle; IEA:Ensembl. # GO_process GO:2000378 negative regulation of reactive oxygen species metabolic process; IEA:Ensembl. # GO_process GO:2000811 negative regulation of anoikis; IMP:UniProtKB. # GO_process GO:2001234 negative regulation of apoptotic signaling pathway; IMP:UniProtKB. # GO_process GO:2001240 negative regulation of extrinsic apoptotic signaling pathway in absence of ligand; IGI:MGI. # GO_process GO:2001243 negative regulation of intrinsic apoptotic signaling pathway; IDA:UniProtKB. # GO_process GO:2001244 positive regulation of intrinsic apoptotic signaling pathway; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005739 mitochondrion # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_component GO:0005829 cytosol # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0003677 DNA binding # GOslim_function GO:0019899 enzyme binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0002376 immune system process # GOslim_process GO:0006464 cellular protein modification process # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007005 mitochondrion organization # GOslim_process GO:0007155 cell adhesion # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0007568 aging # GOslim_process GO:0008150 biological_process # GOslim_process GO:0008219 cell death # GOslim_process GO:0008283 cell proliferation # GOslim_process GO:0019748 secondary metabolic process # GOslim_process GO:0022607 cellular component assembly # GOslim_process GO:0030154 cell differentiation # GOslim_process GO:0034330 cell junction organization # GOslim_process GO:0040007 growth # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0044403 symbiosis, encompassing mutualism through parasitism # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0061024 membrane organization # Genevisible P10415 HS # HGNC HGNC:990 BCL2 # INTERACTION BCL2_HUMAN Self; NbExp=3; IntAct=EBI-77694, EBI-77694; Q9C0C7 AMBRA1; NbExp=10; IntAct=EBI-77694, EBI-2512975; Q92934 BAD; NbExp=5; IntAct=EBI-77694, EBI-700771; Q61337 Bad (xeno); NbExp=6; IntAct=EBI-77694, EBI-400328; Q16611 BAK1; NbExp=3; IntAct=EBI-77694, EBI-519866; Q07812 BAX; NbExp=11; IntAct=EBI-77694, EBI-516580; Q9BXH1 BBC3; NbExp=5; IntAct=EBI-77694, EBI-519884; P51572 BCAP31; NbExp=2; IntAct=EBI-77694, EBI-77683; O43521 BCL2L11; NbExp=8; IntAct=EBI-77694, EBI-526406; O43521-1 BCL2L11; NbExp=3; IntAct=EBI-77694, EBI-526416; O43521-2 BCL2L11; NbExp=4; IntAct=EBI-77694, EBI-526420; Q9NYF8 BCLAF1; NbExp=2; IntAct=EBI-77694, EBI-437804; Q14457 BECN1; NbExp=16; IntAct=EBI-77694, EBI-949378; P55957 BID; NbExp=8; IntAct=EBI-77694, EBI-519672; Q13323 BIK; NbExp=5; IntAct=EBI-77694, EBI-700794; Q91ZE9 Bmf (xeno); NbExp=2; IntAct=EBI-77694, EBI-708032; O60238 BNIP3L; NbExp=2; IntAct=EBI-77694, EBI-849893; P38398 BRCA1; NbExp=6; IntAct=EBI-77694, EBI-349905; Q5S007 LRRK2; NbExp=2; IntAct=EBI-4370304, EBI-5323863; O15151 MDM4; NbExp=4; IntAct=EBI-77694, EBI-398437; Q96HR8 NAF1; NbExp=2; IntAct=EBI-77694, EBI-2515597; Q9C000 NLRP1; NbExp=12; IntAct=EBI-77694, EBI-1220518; P22736 NR4A1; NbExp=7; IntAct=EBI-77694, EBI-721550; Q13794 PMAIP1; NbExp=3; IntAct=EBI-4370304, EBI-707392; O15304 SIVA1; NbExp=2; IntAct=EBI-77694, EBI-520756; P04637 TP53; NbExp=5; IntAct=EBI-77694, EBI-366083; Q13625 TP53BP2; NbExp=13; IntAct=EBI-77694, EBI-77642; # IntAct P10415 47 # InterPro IPR002475 Bcl2-like # InterPro IPR003093 Bcl2_BH4 # InterPro IPR004725 Bcl2/BclX # InterPro IPR013278 Apop_reg_Bcl2 # InterPro IPR020717 Bcl2_BH1_motif_CS # InterPro IPR020726 Bcl2_BH2_motif_CS # InterPro IPR020728 Bcl2_BH3_motif_CS # InterPro IPR020731 Bcl2_BH4_motif_CS # InterPro IPR026298 Blc2_fam # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Disease H00005 [Cancer] Chronic lymphocytic leukemia (CLL) # KEGG_Disease H00013 [Cancer] Small cell lung cancer # KEGG_Disease H00018 [Cancer] Gastric cancer # KEGG_Disease H00028 [Cancer] Choriocarcinoma # KEGG_Disease H00030 [Cancer] Cervical cancer # KEGG_Disease H00041 [Cancer] Kaposi's sarcoma # KEGG_Disease H00054 [Cancer] Nasopharyngeal cancer # KEGG_Disease H01613 [Cancer] Follicular lymphoma # KEGG_Pathway ko04064 NF-kappa B signaling pathway # KEGG_Pathway ko04066 HIF-1 signaling pathway # KEGG_Pathway ko04141 Protein processing in endoplasmic reticulum # KEGG_Pathway ko04151 PI3K-Akt signaling pathway # KEGG_Pathway ko04210 Apoptosis # KEGG_Pathway ko04510 Focal adhesion # KEGG_Pathway ko04722 Neurotrophin signaling pathway # KEGG_Pathway ko04725 Cholinergic synapse # KEGG_Pathway ko05014 Amyotrophic lateral sclerosis (ALS) # KEGG_Pathway ko05145 Toxoplasmosis # KEGG_Pathway ko05152 Tuberculosis # KEGG_Pathway ko05161 Hepatitis B # KEGG_Pathway ko05169 Epstein-Barr virus infection # KEGG_Pathway ko05200 Pathways in cancer # KEGG_Pathway ko05210 Colorectal cancer # KEGG_Pathway ko05215 Prostate cancer # KEGG_Pathway ko05222 Small cell lung cancer # MIM 151430 gene+phenotype # Organism BCL2_HUMAN Homo sapiens (Human) # Orphanet 545 Follicular lymphoma # Orphanet 98839 Intravascular large B-cell lymphoma # PANTHER PTHR11256 PTHR11256 # PANTHER PTHR11256:SF11 PTHR11256:SF11 # PDB 1G5M NMR; -; A=1-34, A=92-207 # PDB 1GJH NMR; -; A=1-34, A=92-207 # PDB 1YSW NMR; -; A=3-33, A=92-206 # PDB 2O21 NMR; -; A=3-34, A=92-207 # PDB 2O22 NMR; -; A=3-34, A=92-207 # PDB 2O2F NMR; -; A=8-31, A=92-204 # PDB 2W3L X-ray; 2.10 A; A/B=92-206 # PDB 2XA0 X-ray; 2.70 A; A/B=1-207 # PDB 4AQ3 X-ray; 2.40 A; A/B/C/D/E/F=1-33, A/B/C/D/E/F=92-207 # PDB 4IEH X-ray; 2.10 A; A=1-34, A=92-207 # PDB 4LVT X-ray; 2.05 A; A/B=1-34, A/B=92-207 # PDB 4LXD X-ray; 1.90 A; A=1-34, A=92-207 # PDB 4MAN X-ray; 2.07 A; A/B=1-34, A/B=92-207 # PDB 5AGW X-ray; 2.69 A; A/B=1-34, A/B=92-207 # PDB 5AGX X-ray; 2.24 A; A/B=1-34, A/B=92-207 # PDB 5FCG X-ray; 2.10 A; A=1-207 # PIR B29409 TVHUB1 # PIR C37332 TVHUA1 # PRINTS PR01862 BCL2FAMILY # PRINTS PR01863 APOPREGBCL2 # PROSITE PS01080 BH1 # PROSITE PS01258 BH2 # PROSITE PS01259 BH3 # PROSITE PS01260 BH4_1 # PROSITE PS50062 BCL2_FAMILY # PROSITE PS50063 BH4_2 # PTM BCL2_HUMAN Monoubiquitinated by PARK2, leading to increase its stability. Ubiquitinated by SCF(FBXO10), leading to its degradation by the proteasome. {ECO 0000269|PubMed 20889974, ECO 0000269|PubMed 23431138}. # PTM BCL2_HUMAN Phosphorylation/dephosphorylation on Ser-70 regulates anti- apoptotic activity. Growth factor-stimulated phosphorylation on Ser-70 by PKC is required for the anti-apoptosis activity and occurs during the G2/M phase of the cell cycle. In the absence of growth factors, BCL2 appears to be phosphorylated by other protein kinases such as ERKs and stress-activated kinases. Phosphorylated by MAPK8/JNK1 at Thr-69, Ser-70 and Ser-87, wich stimulates starvation-induced autophagy. Dephosphorylated by protein phosphatase 2A (PP2A) (By similarity). {ECO 0000250}. # PTM BCL2_HUMAN Proteolytically cleaved by caspases during apoptosis. The cleaved protein, lacking the BH4 motif, has pro-apoptotic activity, causes the release of cytochrome c into the cytosol promoting further caspase activity. {ECO 0000269|PubMed 9395403}. # Pfam PF00452 Bcl-2 # Pfam PF02180 BH4 # Proteomes UP000005640 Chromosome 18 # Reactome R-HSA-111447 Activation of BAD and translocation to mitochondria # Reactome R-HSA-111453 BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members # Reactome R-HSA-844455 The NLRP1 inflammasome # RecName BCL2_HUMAN Apoptosis regulator Bcl-2 # RefSeq NP_000624 NM_000633.2. [P10415-1] # RefSeq NP_000648 NM_000657.2. [P10415-2] # SIMILARITY Belongs to the Bcl-2 family. {ECO 0000305}. # SMART SM00265 BH4 # SUBCELLULAR LOCATION BCL2_HUMAN Mitochondrion outer membrane {ECO 0000269|PubMed 2250705}; Single-pass membrane protein {ECO 0000269|PubMed 2250705}. Nucleus membrane {ECO 0000269|PubMed 2250705}; Single-pass membrane protein {ECO 0000269|PubMed 2250705}. Endoplasmic reticulum membrane {ECO 0000269|PubMed 2250705}; Single-pass membrane protein {ECO 0000269|PubMed 2250705}. # SUBUNIT BCL2_HUMAN Forms homodimers, and heterodimers with BAX, BAD, BAK and Bcl-X(L). Heterodimerization with BAX requires intact BH1 and BH2 motifs, and is necessary for anti-apoptotic activity (PubMed 8183370). Interacts with EI24 (By similarity). Also interacts with APAF1, BBC3, BCL2L1, BNIPL, MRPL41 and TP53BP2. Binding to FKBP8 seems to target BCL2 to the mitochondria and probably interferes with the binding of BCL2 to its targets. Interacts with BAG1 in an ATP-dependent manner. Interacts with RAF1 (the 'Ser-338' and 'Ser-339' phosphorylated form). Interacts (via the BH4 domain) with EGLN3; the interaction prevents the formation of the BAX-BCL2 complex and inhibits the anti-apoptotic activity of BCL2. Interacts with G0S2; this interaction also prevents the formation of the anti-apoptotic BAX-BCL2 complex. Interacts with BOP. Interacts with the SCF(FBXO10) complex. Interacts (via the loop between motifs BH4 and BH3) with NLRP1 (via LRR repeats), but not with NLRP2, NLRP3, NLRP4, PYCARD, nor MEFV (PubMed 17418785). {ECO 0000250, ECO 0000269|PubMed 11463391, ECO 0000269|PubMed 12901880, ECO 0000269|PubMed 15547950, ECO 0000269|PubMed 15733859, ECO 0000269|PubMed 15849194, ECO 0000269|PubMed 17090549, ECO 0000269|PubMed 17418785, ECO 0000269|PubMed 19228691, ECO 0000269|PubMed 19706769, ECO 0000269|PubMed 20849813, ECO 0000269|PubMed 23055042, ECO 0000269|PubMed 23431138, ECO 0000269|PubMed 8183370, ECO 0000269|PubMed 8668206, ECO 0000269|PubMed 9305631}. # TIGRFAMs TIGR00865 bcl-2 # TISSUE SPECIFICITY BCL2_HUMAN Expressed in a variety of tissues. # UCSC uc002lit human. [P10415-1] # WEB RESOURCE BCL2_HUMAN Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http //atlasgeneticsoncology.org/Genes/BCL2ID49.html"; # WEB RESOURCE BCL2_HUMAN Name=NIEHS-SNPs; URL="http //egp.gs.washington.edu/data/bcl2/"; # WEB RESOURCE BCL2_HUMAN Name=Wikipedia; Note=Bcl-2 entry; URL="https //en.wikipedia.org/wiki/Bcl-2"; # eggNOG ENOG41123S0 LUCA # eggNOG KOG4728 Eukaryota BLAST swissprot:BCL2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:BCL2_HUMAN BioCyc ZFISH:ENSG00000171791-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000171791-MONOMER COXPRESdb 596 http://coxpresdb.jp/data/gene/596.shtml CleanEx HS_BCL2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_BCL2 DIP DIP-1043N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-1043N DOI 10.1002/jcb.20292 http://dx.doi.org/10.1002/jcb.20292 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1007/s13238-012-2069-7 http://dx.doi.org/10.1007/s13238-012-2069-7 DOI 10.1016/0092-8674(86)90362-4 http://dx.doi.org/10.1016/0092-8674(86)90362-4 DOI 10.1016/S0006-291X(03)01387-1 http://dx.doi.org/10.1016/S0006-291X(03)01387-1 DOI 10.1016/S1097-2765(01)00213-1 http://dx.doi.org/10.1016/S1097-2765(01)00213-1 DOI 10.1016/j.bbrc.2010.09.037 http://dx.doi.org/10.1016/j.bbrc.2010.09.037 DOI 10.1016/j.cell.2007.01.045 http://dx.doi.org/10.1016/j.cell.2007.01.045 DOI 10.1016/j.febslet.2005.01.053 http://dx.doi.org/10.1016/j.febslet.2005.01.053 DOI 10.1016/j.molcel.2008.06.001 http://dx.doi.org/10.1016/j.molcel.2008.06.001 DOI 10.1021/jm061152t http://dx.doi.org/10.1021/jm061152t DOI 10.1038/348334a0 http://dx.doi.org/10.1038/348334a0 DOI 10.1038/369321a0 http://dx.doi.org/10.1038/369321a0 DOI 10.1038/nature03579 http://dx.doi.org/10.1038/nature03579 DOI 10.1038/nature03983 http://dx.doi.org/10.1038/nature03983 DOI 10.1038/sj/leu/2402090 http://dx.doi.org/10.1038/sj/leu/2402090 DOI 10.1073/pnas.041619798 http://dx.doi.org/10.1073/pnas.041619798 DOI 10.1073/pnas.1217271110 http://dx.doi.org/10.1073/pnas.1217271110 DOI 10.1073/pnas.83.14.5214 http://dx.doi.org/10.1073/pnas.83.14.5214 DOI 10.1074/jbc.M110.101469 http://dx.doi.org/10.1074/jbc.M110.101469 DOI 10.1074/jbc.M413374200 http://dx.doi.org/10.1074/jbc.M413374200 DOI 10.1074/jbc.M606181200 http://dx.doi.org/10.1074/jbc.M606181200 DOI 10.1074/jbc.M808750200 http://dx.doi.org/10.1074/jbc.M808750200 DOI 10.1093/emboj/16.16.4887 http://dx.doi.org/10.1093/emboj/16.16.4887 DOI 10.1093/nar/20.16.4187 http://dx.doi.org/10.1093/nar/20.16.4187 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.278.5345.1966 http://dx.doi.org/10.1126/science.278.5345.1966 DOI 10.1128/MCB.16.7.3884 http://dx.doi.org/10.1128/MCB.16.7.3884 DOI 10.1128/MCB.19.12.8469 http://dx.doi.org/10.1128/MCB.19.12.8469 DOI 10.1158/0008-5472.CAN-09-0128 http://dx.doi.org/10.1158/0008-5472.CAN-09-0128 DisProt DP00297 http://www.disprot.org/protein.php?id=DP00297 DrugBank DB01050 http://www.drugbank.ca/drugs/DB01050 DrugBank DB01229 http://www.drugbank.ca/drugs/DB01229 DrugBank DB01248 http://www.drugbank.ca/drugs/DB01248 DrugBank DB01367 http://www.drugbank.ca/drugs/DB01367 EMBL AC021803 http://www.ebi.ac.uk/ena/data/view/AC021803 EMBL AC022726 http://www.ebi.ac.uk/ena/data/view/AC022726 EMBL AY220759 http://www.ebi.ac.uk/ena/data/view/AY220759 EMBL BC027258 http://www.ebi.ac.uk/ena/data/view/BC027258 EMBL CH471096 http://www.ebi.ac.uk/ena/data/view/CH471096 EMBL M13994 http://www.ebi.ac.uk/ena/data/view/M13994 EMBL M13995 http://www.ebi.ac.uk/ena/data/view/M13995 EMBL M14745 http://www.ebi.ac.uk/ena/data/view/M14745 EMBL S72602 http://www.ebi.ac.uk/ena/data/view/S72602 EMBL X06487 http://www.ebi.ac.uk/ena/data/view/X06487 Ensembl ENST00000333681 http://www.ensembl.org/id/ENST00000333681 Ensembl ENST00000398117 http://www.ensembl.org/id/ENST00000398117 Ensembl ENST00000589955 http://www.ensembl.org/id/ENST00000589955 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005741 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005741 GO_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GO_component GO:0005789 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005789 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0031965 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031965 GO_component GO:0043209 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043209 GO_component GO:0046930 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046930 GO_function GO:0002020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002020 GO_function GO:0015267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015267 GO_function GO:0016248 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016248 GO_function GO:0031625 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031625 GO_function GO:0042803 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042803 GO_function GO:0043565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043565 GO_function GO:0046982 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046982 GO_function GO:0051434 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051434 GO_process GO:0000209 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000209 GO_process GO:0001503 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001503 GO_process GO:0001541 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001541 GO_process GO:0001656 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001656 GO_process GO:0001658 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001658 GO_process GO:0001662 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001662 GO_process GO:0001782 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001782 GO_process GO:0001836 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001836 GO_process GO:0001952 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001952 GO_process GO:0002320 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002320 GO_process GO:0002326 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002326 GO_process GO:0002931 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002931 GO_process GO:0003014 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003014 GO_process GO:0006470 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006470 GO_process GO:0006582 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006582 GO_process GO:0006808 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006808 GO_process GO:0006915 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006915 GO_process GO:0006959 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006959 GO_process GO:0006974 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006974 GO_process GO:0007015 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007015 GO_process GO:0007409 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007409 GO_process GO:0007565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007565 GO_process GO:0007569 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007569 GO_process GO:0008584 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008584 GO_process GO:0008625 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008625 GO_process GO:0008630 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008630 GO_process GO:0008631 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008631 GO_process GO:0009314 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009314 GO_process GO:0009636 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009636 GO_process GO:0009791 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009791 GO_process GO:0010039 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010039 GO_process GO:0010224 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010224 GO_process GO:0010332 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010332 GO_process GO:0010468 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010468 GO_process GO:0010507 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010507 GO_process GO:0010523 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010523 GO_process GO:0010559 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010559 GO_process GO:0014031 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014031 GO_process GO:0014042 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014042 GO_process GO:0014911 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014911 GO_process GO:0016049 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016049 GO_process GO:0018105 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0018105 GO_process GO:0018107 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0018107 GO_process GO:0021747 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021747 GO_process GO:0022612 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022612 GO_process GO:0022898 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022898 GO_process GO:0030279 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030279 GO_process GO:0030307 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030307 GO_process GO:0030308 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030308 GO_process GO:0030318 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030318 GO_process GO:0030336 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030336 GO_process GO:0030890 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030890 GO_process GO:0031069 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031069 GO_process GO:0031103 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031103 GO_process GO:0031647 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031647 GO_process GO:0032469 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032469 GO_process GO:0032835 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032835 GO_process GO:0032848 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032848 GO_process GO:0033033 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033033 GO_process GO:0033077 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033077 GO_process GO:0033138 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033138 GO_process GO:0033689 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033689 GO_process GO:0034097 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034097 GO_process GO:0035094 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035094 GO_process GO:0035265 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035265 GO_process GO:0040018 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0040018 GO_process GO:0042100 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042100 GO_process GO:0042149 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042149 GO_process GO:0042493 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042493 GO_process GO:0042542 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042542 GO_process GO:0043029 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043029 GO_process GO:0043066 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043066 GO_process GO:0043085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043085 GO_process GO:0043375 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043375 GO_process GO:0043496 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043496 GO_process GO:0043497 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043497 GO_process GO:0043524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043524 GO_process GO:0043583 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043583 GO_process GO:0045069 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045069 GO_process GO:0045636 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045636 GO_process GO:0046671 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046671 GO_process GO:0046902 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046902 GO_process GO:0048041 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048041 GO_process GO:0048536 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048536 GO_process GO:0048538 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048538 GO_process GO:0048546 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048546 GO_process GO:0048599 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048599 GO_process GO:0048743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048743 GO_process GO:0048753 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048753 GO_process GO:0048873 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048873 GO_process GO:0050853 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050853 GO_process GO:0051384 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051384 GO_process GO:0051402 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051402 GO_process GO:0051607 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051607 GO_process GO:0051881 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051881 GO_process GO:0051902 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051902 GO_process GO:0051924 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051924 GO_process GO:0070059 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070059 GO_process GO:0071310 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071310 GO_process GO:0071456 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071456 GO_process GO:0072593 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0072593 GO_process GO:0097192 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097192 GO_process GO:1900740 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1900740 GO_process GO:2000134 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000134 GO_process GO:2000378 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000378 GO_process GO:2000811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000811 GO_process GO:2001234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2001234 GO_process GO:2001240 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2001240 GO_process GO:2001243 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2001243 GO_process GO:2001244 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2001244 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0003677 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003677 GOslim_function GO:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0002376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002376 GOslim_process GO:0006464 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006464 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007005 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007005 GOslim_process GO:0007155 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007155 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0007568 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007568 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0008219 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008219 GOslim_process GO:0008283 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008283 GOslim_process GO:0019748 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019748 GOslim_process GO:0022607 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022607 GOslim_process GO:0030154 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030154 GOslim_process GO:0034330 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034330 GOslim_process GO:0040007 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0040007 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0044403 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044403 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0061024 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061024 GeneCards BCL2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=BCL2 GeneID 596 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=596 GeneTree ENSGT00530000062935 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000062935 HGNC HGNC:990 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:990 HOGENOM HOG000056452 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000056452&db=HOGENOM6 HOVERGEN HBG004472 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG004472&db=HOVERGEN HPA CAB000003 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB000003 InParanoid P10415 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P10415 IntAct P10415 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P10415* InterPro IPR002475 http://www.ebi.ac.uk/interpro/entry/IPR002475 InterPro IPR003093 http://www.ebi.ac.uk/interpro/entry/IPR003093 InterPro IPR004725 http://www.ebi.ac.uk/interpro/entry/IPR004725 InterPro IPR013278 http://www.ebi.ac.uk/interpro/entry/IPR013278 InterPro IPR020717 http://www.ebi.ac.uk/interpro/entry/IPR020717 InterPro IPR020726 http://www.ebi.ac.uk/interpro/entry/IPR020726 InterPro IPR020728 http://www.ebi.ac.uk/interpro/entry/IPR020728 InterPro IPR020731 http://www.ebi.ac.uk/interpro/entry/IPR020731 InterPro IPR026298 http://www.ebi.ac.uk/interpro/entry/IPR026298 Jabion 596 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=596 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Disease H00005 http://www.genome.jp/dbget-bin/www_bget?H00005 KEGG_Disease H00013 http://www.genome.jp/dbget-bin/www_bget?H00013 KEGG_Disease H00018 http://www.genome.jp/dbget-bin/www_bget?H00018 KEGG_Disease H00028 http://www.genome.jp/dbget-bin/www_bget?H00028 KEGG_Disease H00030 http://www.genome.jp/dbget-bin/www_bget?H00030 KEGG_Disease H00041 http://www.genome.jp/dbget-bin/www_bget?H00041 KEGG_Disease H00054 http://www.genome.jp/dbget-bin/www_bget?H00054 KEGG_Disease H01613 http://www.genome.jp/dbget-bin/www_bget?H01613 KEGG_Gene hsa:596 http://www.genome.jp/dbget-bin/www_bget?hsa:596 KEGG_Orthology KO:K02161 http://www.genome.jp/dbget-bin/www_bget?KO:K02161 KEGG_Pathway ko04064 http://www.genome.jp/kegg-bin/show_pathway?ko04064 KEGG_Pathway ko04066 http://www.genome.jp/kegg-bin/show_pathway?ko04066 KEGG_Pathway ko04141 http://www.genome.jp/kegg-bin/show_pathway?ko04141 KEGG_Pathway ko04151 http://www.genome.jp/kegg-bin/show_pathway?ko04151 KEGG_Pathway ko04210 http://www.genome.jp/kegg-bin/show_pathway?ko04210 KEGG_Pathway ko04510 http://www.genome.jp/kegg-bin/show_pathway?ko04510 KEGG_Pathway ko04722 http://www.genome.jp/kegg-bin/show_pathway?ko04722 KEGG_Pathway ko04725 http://www.genome.jp/kegg-bin/show_pathway?ko04725 KEGG_Pathway ko05014 http://www.genome.jp/kegg-bin/show_pathway?ko05014 KEGG_Pathway ko05145 http://www.genome.jp/kegg-bin/show_pathway?ko05145 KEGG_Pathway ko05152 http://www.genome.jp/kegg-bin/show_pathway?ko05152 KEGG_Pathway ko05161 http://www.genome.jp/kegg-bin/show_pathway?ko05161 KEGG_Pathway ko05169 http://www.genome.jp/kegg-bin/show_pathway?ko05169 KEGG_Pathway ko05200 http://www.genome.jp/kegg-bin/show_pathway?ko05200 KEGG_Pathway ko05210 http://www.genome.jp/kegg-bin/show_pathway?ko05210 KEGG_Pathway ko05215 http://www.genome.jp/kegg-bin/show_pathway?ko05215 KEGG_Pathway ko05222 http://www.genome.jp/kegg-bin/show_pathway?ko05222 MIM 151430 http://www.ncbi.nlm.nih.gov/omim/151430 MINT MINT-87089 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-87089 OMA IVLKYIH http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=IVLKYIH Orphanet 545 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=545 Orphanet 98839 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=98839 OrthoDB EOG091G0OCU http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0OCU PANTHER PTHR11256 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11256 PANTHER PTHR11256:SF11 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11256:SF11 PDB 1G5M http://www.ebi.ac.uk/pdbe-srv/view/entry/1G5M PDB 1GJH http://www.ebi.ac.uk/pdbe-srv/view/entry/1GJH PDB 1YSW http://www.ebi.ac.uk/pdbe-srv/view/entry/1YSW PDB 2O21 http://www.ebi.ac.uk/pdbe-srv/view/entry/2O21 PDB 2O22 http://www.ebi.ac.uk/pdbe-srv/view/entry/2O22 PDB 2O2F http://www.ebi.ac.uk/pdbe-srv/view/entry/2O2F PDB 2W3L http://www.ebi.ac.uk/pdbe-srv/view/entry/2W3L PDB 2XA0 http://www.ebi.ac.uk/pdbe-srv/view/entry/2XA0 PDB 4AQ3 http://www.ebi.ac.uk/pdbe-srv/view/entry/4AQ3 PDB 4IEH http://www.ebi.ac.uk/pdbe-srv/view/entry/4IEH PDB 4LVT http://www.ebi.ac.uk/pdbe-srv/view/entry/4LVT PDB 4LXD http://www.ebi.ac.uk/pdbe-srv/view/entry/4LXD PDB 4MAN http://www.ebi.ac.uk/pdbe-srv/view/entry/4MAN PDB 5AGW http://www.ebi.ac.uk/pdbe-srv/view/entry/5AGW PDB 5AGX http://www.ebi.ac.uk/pdbe-srv/view/entry/5AGX PDB 5FCG http://www.ebi.ac.uk/pdbe-srv/view/entry/5FCG PDBsum 1G5M http://www.ebi.ac.uk/pdbsum/1G5M PDBsum 1GJH http://www.ebi.ac.uk/pdbsum/1GJH PDBsum 1YSW http://www.ebi.ac.uk/pdbsum/1YSW PDBsum 2O21 http://www.ebi.ac.uk/pdbsum/2O21 PDBsum 2O22 http://www.ebi.ac.uk/pdbsum/2O22 PDBsum 2O2F http://www.ebi.ac.uk/pdbsum/2O2F PDBsum 2W3L http://www.ebi.ac.uk/pdbsum/2W3L PDBsum 2XA0 http://www.ebi.ac.uk/pdbsum/2XA0 PDBsum 4AQ3 http://www.ebi.ac.uk/pdbsum/4AQ3 PDBsum 4IEH http://www.ebi.ac.uk/pdbsum/4IEH PDBsum 4LVT http://www.ebi.ac.uk/pdbsum/4LVT PDBsum 4LXD http://www.ebi.ac.uk/pdbsum/4LXD PDBsum 4MAN http://www.ebi.ac.uk/pdbsum/4MAN PDBsum 5AGW http://www.ebi.ac.uk/pdbsum/5AGW PDBsum 5AGX http://www.ebi.ac.uk/pdbsum/5AGX PDBsum 5FCG http://www.ebi.ac.uk/pdbsum/5FCG PRINTS PR01862 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01862 PRINTS PR01863 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01863 PROSITE PS01080 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS01080 PROSITE PS01258 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS01258 PROSITE PS01259 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS01259 PROSITE PS01260 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS01260 PROSITE PS50062 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50062 PROSITE PS50063 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50063 PSORT swissprot:BCL2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:BCL2_HUMAN PSORT-B swissprot:BCL2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:BCL2_HUMAN PSORT2 swissprot:BCL2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:BCL2_HUMAN Pfam PF00452 http://pfam.xfam.org/family/PF00452 Pfam PF02180 http://pfam.xfam.org/family/PF02180 PharmGKB PA25302 http://www.pharmgkb.org/do/serve?objId=PA25302&objCls=Gene Phobius swissprot:BCL2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:BCL2_HUMAN PhylomeDB P10415 http://phylomedb.org/?seqid=P10415 ProteinModelPortal P10415 http://www.proteinmodelportal.org/query/uniprot/P10415 PubMed 10567572 http://www.ncbi.nlm.nih.gov/pubmed/10567572 PubMed 11248023 http://www.ncbi.nlm.nih.gov/pubmed/11248023 PubMed 11368354 http://www.ncbi.nlm.nih.gov/pubmed/11368354 PubMed 11463391 http://www.ncbi.nlm.nih.gov/pubmed/11463391 PubMed 12901880 http://www.ncbi.nlm.nih.gov/pubmed/12901880 PubMed 1339299 http://www.ncbi.nlm.nih.gov/pubmed/1339299 PubMed 1508712 http://www.ncbi.nlm.nih.gov/pubmed/1508712 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15547950 http://www.ncbi.nlm.nih.gov/pubmed/15547950 PubMed 15733859 http://www.ncbi.nlm.nih.gov/pubmed/15733859 PubMed 15849194 http://www.ncbi.nlm.nih.gov/pubmed/15849194 PubMed 15902208 http://www.ncbi.nlm.nih.gov/pubmed/15902208 PubMed 16177791 http://www.ncbi.nlm.nih.gov/pubmed/16177791 PubMed 17090549 http://www.ncbi.nlm.nih.gov/pubmed/17090549 PubMed 17256834 http://www.ncbi.nlm.nih.gov/pubmed/17256834 PubMed 17418785 http://www.ncbi.nlm.nih.gov/pubmed/17418785 PubMed 18570871 http://www.ncbi.nlm.nih.gov/pubmed/18570871 PubMed 19228691 http://www.ncbi.nlm.nih.gov/pubmed/19228691 PubMed 19706769 http://www.ncbi.nlm.nih.gov/pubmed/19706769 PubMed 20849813 http://www.ncbi.nlm.nih.gov/pubmed/20849813 PubMed 20889974 http://www.ncbi.nlm.nih.gov/pubmed/20889974 PubMed 2250705 http://www.ncbi.nlm.nih.gov/pubmed/2250705 PubMed 23055042 http://www.ncbi.nlm.nih.gov/pubmed/23055042 PubMed 23431138 http://www.ncbi.nlm.nih.gov/pubmed/23431138 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 2834197 http://www.ncbi.nlm.nih.gov/pubmed/2834197 PubMed 2875799 http://www.ncbi.nlm.nih.gov/pubmed/2875799 PubMed 3285301 http://www.ncbi.nlm.nih.gov/pubmed/3285301 PubMed 3523487 http://www.ncbi.nlm.nih.gov/pubmed/3523487 PubMed 8183370 http://www.ncbi.nlm.nih.gov/pubmed/8183370 PubMed 8668206 http://www.ncbi.nlm.nih.gov/pubmed/8668206 PubMed 9305631 http://www.ncbi.nlm.nih.gov/pubmed/9305631 PubMed 9395403 http://www.ncbi.nlm.nih.gov/pubmed/9395403 Reactome R-HSA-111447 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-111447 Reactome R-HSA-111453 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-111453 Reactome R-HSA-844455 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-844455 RefSeq NP_000624 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000624 RefSeq NP_000648 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000648 SMART SM00265 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00265 SMR P10415 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P10415 STRING 9606.ENSP00000329623 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000329623&targetmode=cogs TIGRFAMs TIGR00865 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00865 UCSC uc002lit http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002lit&org=rat UniGene Hs.150749 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.150749 UniProtKB BCL2_HUMAN http://www.uniprot.org/uniprot/BCL2_HUMAN UniProtKB-AC P10415 http://www.uniprot.org/uniprot/P10415 charge swissprot:BCL2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:BCL2_HUMAN eggNOG ENOG41123S0 http://eggnogapi.embl.de/nog_data/html/tree/ENOG41123S0 eggNOG KOG4728 http://eggnogapi.embl.de/nog_data/html/tree/KOG4728 epestfind swissprot:BCL2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:BCL2_HUMAN garnier swissprot:BCL2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:BCL2_HUMAN helixturnhelix swissprot:BCL2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:BCL2_HUMAN hmoment swissprot:BCL2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:BCL2_HUMAN iep swissprot:BCL2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:BCL2_HUMAN inforesidue swissprot:BCL2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:BCL2_HUMAN neXtProt NX_P10415 http://www.nextprot.org/db/entry/NX_P10415 octanol swissprot:BCL2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:BCL2_HUMAN pepcoil swissprot:BCL2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:BCL2_HUMAN pepdigest swissprot:BCL2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:BCL2_HUMAN pepinfo swissprot:BCL2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:BCL2_HUMAN pepnet swissprot:BCL2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:BCL2_HUMAN pepstats swissprot:BCL2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:BCL2_HUMAN pepwheel swissprot:BCL2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:BCL2_HUMAN pepwindow swissprot:BCL2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:BCL2_HUMAN sigcleave swissprot:BCL2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:BCL2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS GTR11_HUMAN Event=Alternative splicing; Named isoforms=4; Name=1; Synonyms=GLUT11; IsoId=Q9BYW1-1; Sequence=Displayed; Name=2; Synonyms=GLUT11-s; IsoId=Q9BYW1-2; Sequence=VSP_006293, VSP_006294, VSP_006295; Name=3; IsoId=Q9BYW1-3; Sequence=VSP_006293; Name=4; Synonyms=GLUT11-L; IsoId=Q9BYW1-4; Sequence=VSP_045650; # AltName GTR11_HUMAN Glucose transporter type 10 # AltName GTR11_HUMAN Glucose transporter type 11 # CAUTION Has been described as GLUT10 in literature, but this gene name has already been used for SLC2A10. {ECO 0000305}. # CCDS CCDS13818 -. [Q9BYW1-4] # CCDS CCDS33616 -. [Q9BYW1-3] # CCDS CCDS46673 -. [Q9BYW1-1] # CDD cd06174 MFS # ChiTaRS SLC2A11 human # Ensembl ENST00000316185 ENSP00000326748; ENSG00000133460. [Q9BYW1-3] # Ensembl ENST00000345044 ENSP00000342542; ENSG00000133460. [Q9BYW1-1] # Ensembl ENST00000398356 ENSP00000381399; ENSG00000133460. [Q9BYW1-4] # Ensembl ENST00000618502 ENSP00000482495; ENSG00000275744. [Q9BYW1-1] # Ensembl ENST00000619254 ENSP00000480839; ENSG00000275744. [Q9BYW1-4] # Ensembl ENST00000620942 ENSP00000483163; ENSG00000275744. [Q9BYW1-3] # ExpressionAtlas Q9BYW1 baseline and differential # FUNCTION GTR11_HUMAN Facilitative glucose transporter. {ECO 0000269|PubMed 12175779}. # GO_component GO:0005634 nucleus; IDA:HPA. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0030054 cell junction; IDA:HPA. # GO_function GO:0051119 sugar transmembrane transporter activity; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # Genevisible Q9BYW1 HS # HGNC HGNC:14239 SLC2A11 # InterPro IPR003663 Sugar/inositol_transpt # InterPro IPR005828 MFS_sugar_transport-like # InterPro IPR005829 Sugar_transporter_CS # InterPro IPR020846 MFS_dom # KEGG_Brite ko02000 Transporters # KEGG_Brite ko02001 Solute carrier family # MIM 610367 gene # Organism GTR11_HUMAN Homo sapiens (Human) # PRINTS PR00171 SUGRTRNSPORT # PROSITE PS00217 SUGAR_TRANSPORT_2 # PROSITE PS50850 MFS # Pfam PF00083 Sugar_tr # Proteomes UP000005640 Chromosome 22 # Reactome R-HSA-428776 Class II GLUTs # RecName GTR11_HUMAN Solute carrier family 2, facilitated glucose transporter member 11 # RefSeq NP_001020109 NM_001024938.3. [Q9BYW1-1] # RefSeq NP_001020110 NM_001024939.3. [Q9BYW1-3] # RefSeq NP_110434 NM_030807.4. [Q9BYW1-4] # SIMILARITY Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION GTR11_HUMAN Cell membrane {ECO 0000269|PubMed 12175779}; Multi-pass membrane protein {ECO 0000269|PubMed 12175779}. # SUPFAM SSF103473 SSF103473 # TCDB 2.A.1.1.44 the major facilitator superfamily (mfs) # TIGRFAMs TIGR00879 SP # TISSUE SPECIFICITY GTR11_HUMAN Expressed in heart and skeletal muscle. # UCSC uc002zym human. [Q9BYW1-1] # eggNOG COG0477 LUCA # eggNOG KOG0569 Eukaryota BLAST swissprot:GTR11_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:GTR11_HUMAN BioCyc ZFISH:ENSG00000133460-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000133460-MONOMER COXPRESdb 66035 http://coxpresdb.jp/data/gene/66035.shtml CleanEx HS_SLC2A11 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC2A11 DOI 10.1006/bbrc.2001.6101 http://dx.doi.org/10.1006/bbrc.2001.6101 DOI 10.1016/S1096-7192(02)00018-5 http://dx.doi.org/10.1016/S1096-7192(02)00018-5 DOI 10.1038/990031 http://dx.doi.org/10.1038/990031 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1093/dnares/12.2.117 http://dx.doi.org/10.1093/dnares/12.2.117 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/gb-2004-5-10-r84 http://dx.doi.org/10.1186/gb-2004-5-10-r84 EMBL AB049214 http://www.ebi.ac.uk/ena/data/view/AB049214 EMBL AB067443 http://www.ebi.ac.uk/ena/data/view/AB067443 EMBL AF443201 http://www.ebi.ac.uk/ena/data/view/AF443201 EMBL AJ271290 http://www.ebi.ac.uk/ena/data/view/AJ271290 EMBL AK075467 http://www.ebi.ac.uk/ena/data/view/AK075467 EMBL AK314502 http://www.ebi.ac.uk/ena/data/view/AK314502 EMBL AP000350 http://www.ebi.ac.uk/ena/data/view/AP000350 EMBL BC100808 http://www.ebi.ac.uk/ena/data/view/BC100808 EMBL CH471095 http://www.ebi.ac.uk/ena/data/view/CH471095 EMBL CR456373 http://www.ebi.ac.uk/ena/data/view/CR456373 Ensembl ENST00000316185 http://www.ensembl.org/id/ENST00000316185 Ensembl ENST00000345044 http://www.ensembl.org/id/ENST00000345044 Ensembl ENST00000398356 http://www.ensembl.org/id/ENST00000398356 Ensembl ENST00000618502 http://www.ensembl.org/id/ENST00000618502 Ensembl ENST00000619254 http://www.ensembl.org/id/ENST00000619254 Ensembl ENST00000620942 http://www.ensembl.org/id/ENST00000620942 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_function GO:0051119 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051119 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GeneCards SLC2A11 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC2A11 GeneID 66035 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=66035 GeneTree ENSGT00760000119022 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119022 HGNC HGNC:14239 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:14239 HOGENOM HOG000202871 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000202871&db=HOGENOM6 HOVERGEN HBG014816 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG014816&db=HOVERGEN HPA HPA042960 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA042960 HPA HPA071184 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA071184 InParanoid Q9BYW1 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9BYW1 InterPro IPR003663 http://www.ebi.ac.uk/interpro/entry/IPR003663 InterPro IPR005828 http://www.ebi.ac.uk/interpro/entry/IPR005828 InterPro IPR005829 http://www.ebi.ac.uk/interpro/entry/IPR005829 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 66035 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=66035 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:66035 http://www.genome.jp/dbget-bin/www_bget?hsa:66035 KEGG_Orthology KO:K08148 http://www.genome.jp/dbget-bin/www_bget?KO:K08148 MIM 610367 http://www.ncbi.nlm.nih.gov/omim/610367 PRINTS PR00171 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00171 PROSITE PS00217 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00217 PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PSORT swissprot:GTR11_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:GTR11_HUMAN PSORT-B swissprot:GTR11_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:GTR11_HUMAN PSORT2 swissprot:GTR11_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:GTR11_HUMAN Pfam PF00083 http://pfam.xfam.org/family/PF00083 PharmGKB PA37861 http://www.pharmgkb.org/do/serve?objId=PA37861&objCls=Gene Phobius swissprot:GTR11_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:GTR11_HUMAN PhylomeDB Q9BYW1 http://phylomedb.org/?seqid=Q9BYW1 ProteinModelPortal Q9BYW1 http://www.proteinmodelportal.org/query/uniprot/Q9BYW1 PubMed 10591208 http://www.ncbi.nlm.nih.gov/pubmed/10591208 PubMed 11741323 http://www.ncbi.nlm.nih.gov/pubmed/11741323 PubMed 12175779 http://www.ncbi.nlm.nih.gov/pubmed/12175779 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15461802 http://www.ncbi.nlm.nih.gov/pubmed/15461802 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16303743 http://www.ncbi.nlm.nih.gov/pubmed/16303743 Reactome R-HSA-428776 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-428776 RefSeq NP_001020109 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001020109 RefSeq NP_001020110 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001020110 RefSeq NP_110434 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_110434 STRING 9606.ENSP00000381399 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000381399&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.1.1.44 http://www.tcdb.org/search/result.php?tc=2.A.1.1.44 TIGRFAMs TIGR00879 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00879 UCSC uc002zym http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002zym&org=rat UniGene Hs.661910 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.661910 UniGene Hs.743282 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.743282 UniProtKB GTR11_HUMAN http://www.uniprot.org/uniprot/GTR11_HUMAN UniProtKB-AC Q9BYW1 http://www.uniprot.org/uniprot/Q9BYW1 charge swissprot:GTR11_HUMAN http://rest.g-language.org/emboss/charge/swissprot:GTR11_HUMAN eggNOG COG0477 http://eggnogapi.embl.de/nog_data/html/tree/COG0477 eggNOG KOG0569 http://eggnogapi.embl.de/nog_data/html/tree/KOG0569 epestfind swissprot:GTR11_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:GTR11_HUMAN garnier swissprot:GTR11_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:GTR11_HUMAN helixturnhelix swissprot:GTR11_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:GTR11_HUMAN hmoment swissprot:GTR11_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:GTR11_HUMAN iep swissprot:GTR11_HUMAN http://rest.g-language.org/emboss/iep/swissprot:GTR11_HUMAN inforesidue swissprot:GTR11_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:GTR11_HUMAN neXtProt NX_Q9BYW1 http://www.nextprot.org/db/entry/NX_Q9BYW1 octanol swissprot:GTR11_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:GTR11_HUMAN pepcoil swissprot:GTR11_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:GTR11_HUMAN pepdigest swissprot:GTR11_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:GTR11_HUMAN pepinfo swissprot:GTR11_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:GTR11_HUMAN pepnet swissprot:GTR11_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:GTR11_HUMAN pepstats swissprot:GTR11_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:GTR11_HUMAN pepwheel swissprot:GTR11_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:GTR11_HUMAN pepwindow swissprot:GTR11_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:GTR11_HUMAN sigcleave swissprot:GTR11_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:GTR11_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS S4A10_HUMAN Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q6U841-1; Sequence=Displayed; Name=2; IsoId=Q6U841-2; Sequence=VSP_019653; Name=3; IsoId=Q6U841-3; Sequence=VSP_044993, VSP_019653; Note=No experimental confirmation available.; Name=4; IsoId=Q6U841-4; Sequence=VSP_054471, VSP_054472; Note=No experimental confirmation available.; # AltName S4A10_HUMAN Solute carrier family 4 member 10 # CCDS CCDS46438 -. [Q6U841-2] # CCDS CCDS54411 -. [Q6U841-1] # CCDS CCDS54412 -. [Q6U841-3] # ChiTaRS SLC4A10 human # DrugBank DB01390 Sodium bicarbonate # Ensembl ENST00000375514 ENSP00000364664; ENSG00000144290. [Q6U841-3] # Ensembl ENST00000415876 ENSP00000395797; ENSG00000144290. [Q6U841-2] # Ensembl ENST00000446997 ENSP00000393066; ENSG00000144290. [Q6U841-1] # ExpressionAtlas Q6U841 baseline and differential # FUNCTION S4A10_HUMAN Electrogenic sodium/bicarbonate cotransporter in exchange for intracellular chloride. Plays an important role in regulating intracellular pH (By similarity). {ECO 0000250}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0016021 integral component of membrane; NAS:UniProtKB. # GO_component GO:0016323 basolateral plasma membrane; IEA:Ensembl. # GO_component GO:0043025 neuronal cell body; IEA:Ensembl. # GO_component GO:0097440 apical dendrite; IEA:Ensembl. # GO_component GO:0097441 basilar dendrite; IEA:Ensembl. # GO_component GO:0097442 CA3 pyramidal cell dendrite; IEA:Ensembl. # GO_function GO:0005452 inorganic anion exchanger activity; TAS:Reactome. # GO_function GO:0008509 anion transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015293 symporter activity; IEA:UniProtKB-KW. # GO_function S4A10_HUMAN GO 0015301 anion anion antiporter activity; IEA Ensembl. # GO_process GO:0006814 sodium ion transport; IEA:UniProtKB-KW. # GO_process GO:0006821 chloride transport; NAS:UniProtKB. # GO_process GO:0007399 nervous system development; IBA:GO_Central. # GO_process GO:0009416 response to light stimulus; IEA:Ensembl. # GO_process GO:0009791 post-embryonic development; IEA:Ensembl. # GO_process GO:0015701 bicarbonate transport; NAS:UniProtKB. # GO_process GO:0021860 pyramidal neuron development; IEA:Ensembl. # GO_process GO:0035264 multicellular organism growth; IEA:Ensembl. # GO_process GO:0035641 locomotory exploration behavior; IEA:Ensembl. # GO_process GO:0048854 brain morphogenesis; IEA:Ensembl. # GO_process GO:0051453 regulation of intracellular pH; IBA:GO_Central. # GO_process GO:0098656 anion transmembrane transport; IBA:GO_Central. # GO_process GO:1902600 hydrogen ion transmembrane transport; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0040007 growth # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0055085 transmembrane transport # Gene3D 3.40.1100.10 -; 2. # HGNC HGNC:13811 SLC4A10 # IntAct Q6U841 2 # InterPro IPR003020 HCO3_transpt_euk # InterPro IPR003024 Na/HCO3_transpt # InterPro IPR011531 HCO3_transpt_C # InterPro IPR013769 Band3_cytoplasmic_dom # InterPro IPR016152 PTrfase/Anion_transptr # KEGG_Brite ko02001 Solute carrier family # MIM 605556 gene # Organism S4A10_HUMAN Homo sapiens (Human) # PANTHER PTHR11453 PTHR11453 # PRINTS PR01231 HCO3TRNSPORT # PRINTS PR01232 NAHCO3TRSPRT # Pfam PF00955 HCO3_cotransp # Pfam PF07565 Band_3_cyto # Proteomes UP000005640 Chromosome 2 # Reactome R-HSA-425381 Bicarbonate transporters # RecName S4A10_HUMAN Sodium-driven chloride bicarbonate exchanger # RefSeq NP_001171486 NM_001178015.1. [Q6U841-1] # RefSeq NP_001171487 NM_001178016.1. [Q6U841-3] # RefSeq NP_071341 NM_022058.3. [Q6U841-2] # SIMILARITY Belongs to the anion exchanger (TC 2.A.31) family. {ECO 0000305}. # SUBCELLULAR LOCATION S4A10_HUMAN Cell membrane; Multi-pass membrane protein. Note=Localizes to the basolateral membrane. {ECO 0000250}. # SUPFAM SSF55804 SSF55804; 2 # TCDB 2.A.31.2.14 the anion exchanger (ae) family # TIGRFAMs TIGR00834 ae # UCSC uc002ubx human. [Q6U841-1] # eggNOG ENOG410XPHD LUCA # eggNOG KOG1172 Eukaryota BLAST swissprot:S4A10_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S4A10_HUMAN COXPRESdb 57282 http://coxpresdb.jp/data/gene/57282.shtml CleanEx HS_SLC4A10 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC4A10 DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.C000456200 http://dx.doi.org/10.1074/jbc.C000456200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 DrugBank DB01390 http://www.drugbank.ca/drugs/DB01390 EMBL AB040457 http://www.ebi.ac.uk/ena/data/view/AB040457 EMBL AC008063 http://www.ebi.ac.uk/ena/data/view/AC008063 EMBL AC009487 http://www.ebi.ac.uk/ena/data/view/AC009487 EMBL AC062022 http://www.ebi.ac.uk/ena/data/view/AC062022 EMBL AC092654 http://www.ebi.ac.uk/ena/data/view/AC092654 EMBL AC092841 http://www.ebi.ac.uk/ena/data/view/AC092841 EMBL AC096654 http://www.ebi.ac.uk/ena/data/view/AC096654 EMBL AK293793 http://www.ebi.ac.uk/ena/data/view/AK293793 EMBL AK294767 http://www.ebi.ac.uk/ena/data/view/AK294767 EMBL AL713680 http://www.ebi.ac.uk/ena/data/view/AL713680 EMBL AL832525 http://www.ebi.ac.uk/ena/data/view/AL832525 EMBL AY376402 http://www.ebi.ac.uk/ena/data/view/AY376402 EMBL BC136269 http://www.ebi.ac.uk/ena/data/view/BC136269 EMBL BC143714 http://www.ebi.ac.uk/ena/data/view/BC143714 EMBL CH471058 http://www.ebi.ac.uk/ena/data/view/CH471058 Ensembl ENST00000375514 http://www.ensembl.org/id/ENST00000375514 Ensembl ENST00000415876 http://www.ensembl.org/id/ENST00000415876 Ensembl ENST00000446997 http://www.ensembl.org/id/ENST00000446997 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0016323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016323 GO_component GO:0043025 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043025 GO_component GO:0097440 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097440 GO_component GO:0097441 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097441 GO_component GO:0097442 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097442 GO_function GO:0005452 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005452 GO_function GO:0008509 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008509 GO_function GO:0015293 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015293 GO_function GO:0015301 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015301 GO_process GO:0006814 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006814 GO_process GO:0006821 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006821 GO_process GO:0007399 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007399 GO_process GO:0009416 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009416 GO_process GO:0009791 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009791 GO_process GO:0015701 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015701 GO_process GO:0021860 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021860 GO_process GO:0035264 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035264 GO_process GO:0035641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035641 GO_process GO:0048854 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048854 GO_process GO:0051453 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051453 GO_process GO:0098656 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0098656 GO_process GO:1902600 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902600 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0040007 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0040007 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 3.40.1100.10 http://www.cathdb.info/version/latest/superfamily/3.40.1100.10 GeneCards SLC4A10 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC4A10 GeneID 57282 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=57282 GeneTree ENSGT00760000119021 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119021 HGNC HGNC:13811 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:13811 HOGENOM HOG000280684 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000280684&db=HOGENOM6 HOVERGEN HBG004326 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG004326&db=HOVERGEN HPA HPA034755 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA034755 InParanoid Q6U841 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q6U841 IntAct Q6U841 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q6U841* InterPro IPR003020 http://www.ebi.ac.uk/interpro/entry/IPR003020 InterPro IPR003024 http://www.ebi.ac.uk/interpro/entry/IPR003024 InterPro IPR011531 http://www.ebi.ac.uk/interpro/entry/IPR011531 InterPro IPR013769 http://www.ebi.ac.uk/interpro/entry/IPR013769 InterPro IPR016152 http://www.ebi.ac.uk/interpro/entry/IPR016152 Jabion 57282 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=57282 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:57282 http://www.genome.jp/dbget-bin/www_bget?hsa:57282 KEGG_Orthology KO:K13861 http://www.genome.jp/dbget-bin/www_bget?KO:K13861 MIM 605556 http://www.ncbi.nlm.nih.gov/omim/605556 OMA RIFGGMI http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=RIFGGMI OrthoDB EOG091G01FT http://cegg.unige.ch/orthodb/results?searchtext=EOG091G01FT PANTHER PTHR11453 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11453 PRINTS PR01231 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01231 PRINTS PR01232 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01232 PSORT swissprot:S4A10_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S4A10_HUMAN PSORT-B swissprot:S4A10_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S4A10_HUMAN PSORT2 swissprot:S4A10_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S4A10_HUMAN Pfam PF00955 http://pfam.xfam.org/family/PF00955 Pfam PF07565 http://pfam.xfam.org/family/PF07565 PharmGKB PA37810 http://www.pharmgkb.org/do/serve?objId=PA37810&objCls=Gene Phobius swissprot:S4A10_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S4A10_HUMAN PhylomeDB Q6U841 http://phylomedb.org/?seqid=Q6U841 ProteinModelPortal Q6U841 http://www.proteinmodelportal.org/query/uniprot/Q6U841 PubMed 10993873 http://www.ncbi.nlm.nih.gov/pubmed/10993873 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 Reactome R-HSA-425381 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-425381 RefSeq NP_001171486 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001171486 RefSeq NP_001171487 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001171487 RefSeq NP_071341 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_071341 STRING 9606.ENSP00000393066 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000393066&targetmode=cogs SUPFAM SSF55804 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF55804 TCDB 2.A.31.2.14 http://www.tcdb.org/search/result.php?tc=2.A.31.2.14 TIGRFAMs TIGR00834 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00834 UCSC uc002ubx http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002ubx&org=rat UniGene Hs.333958 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.333958 UniProtKB S4A10_HUMAN http://www.uniprot.org/uniprot/S4A10_HUMAN UniProtKB-AC Q6U841 http://www.uniprot.org/uniprot/Q6U841 charge swissprot:S4A10_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S4A10_HUMAN eggNOG ENOG410XPHD http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XPHD eggNOG KOG1172 http://eggnogapi.embl.de/nog_data/html/tree/KOG1172 epestfind swissprot:S4A10_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S4A10_HUMAN garnier swissprot:S4A10_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S4A10_HUMAN helixturnhelix swissprot:S4A10_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S4A10_HUMAN hmoment swissprot:S4A10_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S4A10_HUMAN iep swissprot:S4A10_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S4A10_HUMAN inforesidue swissprot:S4A10_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S4A10_HUMAN neXtProt NX_Q6U841 http://www.nextprot.org/db/entry/NX_Q6U841 octanol swissprot:S4A10_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S4A10_HUMAN pepcoil swissprot:S4A10_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S4A10_HUMAN pepdigest swissprot:S4A10_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S4A10_HUMAN pepinfo swissprot:S4A10_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S4A10_HUMAN pepnet swissprot:S4A10_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S4A10_HUMAN pepstats swissprot:S4A10_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S4A10_HUMAN pepwheel swissprot:S4A10_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S4A10_HUMAN pepwindow swissprot:S4A10_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S4A10_HUMAN sigcleave swissprot:S4A10_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S4A10_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS IRPL1_HUMAN Event=Alternative splicing; Named isoforms=1; Comment=A number of isoforms are produced.; Name=1; IsoId=Q9NZN1-1; Sequence=Displayed; # AltName IRPL1_HUMAN Oligophrenin-4 # AltName IRPL1_HUMAN Three immunoglobulin domain-containing IL-1 receptor-related 2 # AltName IRPL1_HUMAN X-linked interleukin-1 receptor accessory protein-like 1 # BioGrid 116313 2 # CCDS CCDS14218 -. [Q9NZN1-1] # ChiTaRS IL1RAPL1 human # DISEASE IRPL1_HUMAN Mental retardation, X-linked 21 (MRX21) [MIM 300143] A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non- syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. {ECO 0000269|PubMed 10757639, ECO 0000269|PubMed 16470793}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000378993 ENSP00000368278; ENSG00000169306. [Q9NZN1-1] # ExpressionAtlas Q9NZN1 baseline and differential # FUNCTION IRPL1_HUMAN May regulate secretion and presynaptic differentiation through inhibition of the activity of N-type voltage-gated calcium channel. May activate the MAP kinase JNK. Plays a role in presynaptic and postsynaptic differentiation and dendritic spine formation in neurons. {ECO 0000269|PubMed 12783849, ECO 0000269|PubMed 15123616}. # GO_component GO:0005737 cytoplasm; IEA:UniProtKB-SubCell. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0009986 cell surface; ISS:BHF-UCL. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0030424 axon; IEA:UniProtKB-SubCell. # GO_component GO:0030425 dendrite; ISS:BHF-UCL. # GO_component GO:0045211 postsynaptic membrane; NAS:BHF-UCL. # GO_function GO:0005102 receptor binding; ISS:BHF-UCL. # GO_function GO:0005245 voltage-gated calcium channel activity; ISS:UniProtKB. # GO_process GO:0007157 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules; ISS:BHF-UCL. # GO_process GO:0007165 signal transduction; IEA:InterPro. # GO_process GO:0010975 regulation of neuron projection development; ISS:UniProtKB. # GO_process GO:0030182 neuron differentiation; ISS:BHF-UCL. # GO_process GO:0045920 negative regulation of exocytosis; IDA:UniProtKB. # GO_process GO:0050775 positive regulation of dendrite morphogenesis; ISS:BHF-UCL. # GO_process GO:0097105 presynaptic membrane assembly; ISS:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0007155 cell adhesion # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0022607 cellular component assembly # GOslim_process GO:0030154 cell differentiation # GOslim_process GO:0061024 membrane organization # Gene3D 2.60.40.10 -; 3. # Gene3D 3.40.50.10140 -; 1. # Genevisible Q9NZN1 HS # HGNC HGNC:5996 IL1RAPL1 # InterPro IPR000157 TIR_dom # InterPro IPR003598 Ig_sub2 # InterPro IPR003599 Ig_sub # InterPro IPR007110 Ig-like_dom # InterPro IPR013151 Immunoglobulin # InterPro IPR013783 Ig-like_fold # InterPro IPR015621 IL-1_rcpt_fam # KEGG_Brite ko04050 Cytokine receptors # KEGG_Disease H00480 [Congenital disorder; Mental retardation] Non-syndromic X-linked mental retardation # MIM 300143 phenotype # MIM 300206 gene # Organism IRPL1_HUMAN Homo sapiens (Human) # Orphanet 777 X-linked non-syndromic intellectual disability # PANTHER PTHR11890 PTHR11890 # PDB 1T3G X-ray; 2.30 A; A/B=403-561 # PDB 4M92 X-ray; 1.60 A; B=207-222 # PROSITE PS50104 TIR # PROSITE PS50835 IG_LIKE; 3 # Pfam PF00047 ig # Pfam PF01582 TIR # Proteomes UP000005640 Chromosome X # RecName IRPL1_HUMAN Interleukin-1 receptor accessory protein-like 1 # RefSeq NP_055086 NM_014271.3. [Q9NZN1-1] # RefSeq XP_016884729 XM_017029240.1. [Q9NZN1-1] # SIMILARITY Belongs to the interleukin-1 receptor family. {ECO 0000305}. # SIMILARITY Contains 1 TIR domain. {ECO:0000255|PROSITE- ProRule PRU00204}. # SIMILARITY Contains 3 Ig-like C2-type (immunoglobulin-like) domains. {ECO 0000305}. # SMART SM00255 TIR # SMART SM00408 IGc2; 2 # SMART SM00409 IG; 3 # SUBCELLULAR LOCATION IRPL1_HUMAN Cell membrane {ECO 0000269|PubMed 12783849}; Single-pass type I membrane protein {ECO 0000269|PubMed 12783849}. Cytoplasm {ECO 0000269|PubMed 12783849}. Cell projection, axon {ECO 0000250}. Cell projection, dendrite {ECO 0000250}. Note=May localize to the cell body and growth cones of dendrite-like processes. {ECO 0000250}. # SUBUNIT Homodimer. Interacts (calcium-independent) with NCS1. Interacts (via extracellular region) with PTPRD; this interaction is required for IL1RAPL1-mediated synapse formation. {ECO:0000269|PubMed 12783849}. # SUPFAM SSF48726 SSF48726; 3 # SUPFAM SSF52200 SSF52200 # TISSUE SPECIFICITY IRPL1_HUMAN Detected at low levels in heart, skeletal muscle, ovary, skin, amygdala, caudate nucleus, corpus callosum, hippocampus, substantia nigra and thalamus. Detected at very low levels in tonsil, prostate, testis, small intestine, placenta, colon and fetal liver. {ECO 0000269|PubMed 10471494, ECO 0000269|PubMed 10882729}. # eggNOG ENOG410IF3G Eukaryota # eggNOG ENOG4110Z8K LUCA BLAST swissprot:IRPL1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:IRPL1_HUMAN BioCyc ZFISH:ENSG00000169306-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000169306-MONOMER COXPRESdb 11141 http://coxpresdb.jp/data/gene/11141.shtml CleanEx HS_IL1RAPL1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_IL1RAPL1 DOI 10.1002/ajmg.a.31107 http://dx.doi.org/10.1002/ajmg.a.31107 DOI 10.1038/12623 http://dx.doi.org/10.1038/12623 DOI 10.1038/nature03440 http://dx.doi.org/10.1038/nature03440 DOI 10.1038/sj.ejhg.5200415 http://dx.doi.org/10.1038/sj.ejhg.5200415 DOI 10.1074/jbc.M004077200 http://dx.doi.org/10.1074/jbc.M004077200 DOI 10.1074/jbc.M403434200 http://dx.doi.org/10.1074/jbc.M403434200 DOI 10.1093/hmg/ddg147 http://dx.doi.org/10.1093/hmg/ddg147 DOI 10.1093/hmg/ddn300 http://dx.doi.org/10.1093/hmg/ddn300 DOI 10.1093/molbev/msg134 http://dx.doi.org/10.1093/molbev/msg134 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AB102650 http://www.ebi.ac.uk/ena/data/view/AB102650 EMBL AC005748 http://www.ebi.ac.uk/ena/data/view/AC005748 EMBL AC005748 http://www.ebi.ac.uk/ena/data/view/AC005748 EMBL AC121343 http://www.ebi.ac.uk/ena/data/view/AC121343 EMBL AC121343 http://www.ebi.ac.uk/ena/data/view/AC121343 EMBL AC129852 http://www.ebi.ac.uk/ena/data/view/AC129852 EMBL AC129852 http://www.ebi.ac.uk/ena/data/view/AC129852 EMBL AF181284 http://www.ebi.ac.uk/ena/data/view/AF181284 EMBL AF284435 http://www.ebi.ac.uk/ena/data/view/AF284435 EMBL AJ243874 http://www.ebi.ac.uk/ena/data/view/AJ243874 EMBL AL031466 http://www.ebi.ac.uk/ena/data/view/AL031466 EMBL AL031466 http://www.ebi.ac.uk/ena/data/view/AL031466 EMBL AL031575 http://www.ebi.ac.uk/ena/data/view/AL031575 EMBL AL031575 http://www.ebi.ac.uk/ena/data/view/AL031575 EMBL BC126345 http://www.ebi.ac.uk/ena/data/view/BC126345 EMBL BC126347 http://www.ebi.ac.uk/ena/data/view/BC126347 EMBL CH471074 http://www.ebi.ac.uk/ena/data/view/CH471074 Ensembl ENST00000378993 http://www.ensembl.org/id/ENST00000378993 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0009986 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009986 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0030424 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030424 GO_component GO:0030425 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030425 GO_component GO:0045211 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045211 GO_function GO:0005102 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005102 GO_function GO:0005245 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005245 GO_process GO:0007157 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007157 GO_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GO_process GO:0010975 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010975 GO_process GO:0030182 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030182 GO_process GO:0045920 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045920 GO_process GO:0050775 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050775 GO_process GO:0097105 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097105 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0007155 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007155 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0022607 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022607 GOslim_process GO:0030154 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030154 GOslim_process GO:0061024 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061024 Gene3D 2.60.40.10 http://www.cathdb.info/version/latest/superfamily/2.60.40.10 Gene3D 3.40.50.10140 http://www.cathdb.info/version/latest/superfamily/3.40.50.10140 GeneCards IL1RAPL1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=IL1RAPL1 GeneID 11141 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=11141 GeneTree ENSGT00760000119071 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119071 HGNC HGNC:5996 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:5996 HOGENOM HOG000092977 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000092977&db=HOGENOM6 HOVERGEN HBG052148 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052148&db=HOVERGEN HPA HPA000564 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA000564 InParanoid Q9NZN1 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9NZN1 IntAct Q9NZN1 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9NZN1* InterPro IPR000157 http://www.ebi.ac.uk/interpro/entry/IPR000157 InterPro IPR003598 http://www.ebi.ac.uk/interpro/entry/IPR003598 InterPro IPR003599 http://www.ebi.ac.uk/interpro/entry/IPR003599 InterPro IPR007110 http://www.ebi.ac.uk/interpro/entry/IPR007110 InterPro IPR013151 http://www.ebi.ac.uk/interpro/entry/IPR013151 InterPro IPR013783 http://www.ebi.ac.uk/interpro/entry/IPR013783 InterPro IPR015621 http://www.ebi.ac.uk/interpro/entry/IPR015621 Jabion 11141 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=11141 KEGG_Brite ko04050 http://www.genome.jp/dbget-bin/www_bget?ko04050 KEGG_Disease H00480 http://www.genome.jp/dbget-bin/www_bget?H00480 KEGG_Gene hsa:11141 http://www.genome.jp/dbget-bin/www_bget?hsa:11141 KEGG_Orthology KO:K05170 http://www.genome.jp/dbget-bin/www_bget?KO:K05170 MIM 300143 http://www.ncbi.nlm.nih.gov/omim/300143 MIM 300206 http://www.ncbi.nlm.nih.gov/omim/300206 OMA KLLHPLE http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=KLLHPLE Orphanet 777 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=777 OrthoDB EOG091G0GXW http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0GXW PANTHER PTHR11890 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11890 PDB 1T3G http://www.ebi.ac.uk/pdbe-srv/view/entry/1T3G PDB 4M92 http://www.ebi.ac.uk/pdbe-srv/view/entry/4M92 PDBsum 1T3G http://www.ebi.ac.uk/pdbsum/1T3G PDBsum 4M92 http://www.ebi.ac.uk/pdbsum/4M92 PROSITE PS50104 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50104 PROSITE PS50835 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50835 PSORT swissprot:IRPL1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:IRPL1_HUMAN PSORT-B swissprot:IRPL1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:IRPL1_HUMAN PSORT2 swissprot:IRPL1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:IRPL1_HUMAN Pfam PF00047 http://pfam.xfam.org/family/PF00047 Pfam PF01582 http://pfam.xfam.org/family/PF01582 PharmGKB PA29812 http://www.pharmgkb.org/do/serve?objId=PA29812&objCls=Gene Phobius swissprot:IRPL1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:IRPL1_HUMAN PhylomeDB Q9NZN1 http://phylomedb.org/?seqid=Q9NZN1 ProteinModelPortal Q9NZN1 http://www.proteinmodelportal.org/query/uniprot/Q9NZN1 PubMed 10471494 http://www.ncbi.nlm.nih.gov/pubmed/10471494 PubMed 10757639 http://www.ncbi.nlm.nih.gov/pubmed/10757639 PubMed 10882729 http://www.ncbi.nlm.nih.gov/pubmed/10882729 PubMed 12777533 http://www.ncbi.nlm.nih.gov/pubmed/12777533 PubMed 12783849 http://www.ncbi.nlm.nih.gov/pubmed/12783849 PubMed 15123616 http://www.ncbi.nlm.nih.gov/pubmed/15123616 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15772651 http://www.ncbi.nlm.nih.gov/pubmed/15772651 PubMed 16470793 http://www.ncbi.nlm.nih.gov/pubmed/16470793 PubMed 18801879 http://www.ncbi.nlm.nih.gov/pubmed/18801879 RefSeq NP_055086 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_055086 RefSeq XP_016884729 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016884729 SMART SM00255 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00255 SMART SM00408 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00408 SMART SM00409 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00409 SMR Q9NZN1 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9NZN1 STRING 9606.ENSP00000305200 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000305200&targetmode=cogs SUPFAM SSF48726 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48726 SUPFAM SSF52200 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52200 UniGene Hs.658912 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.658912 UniProtKB IRPL1_HUMAN http://www.uniprot.org/uniprot/IRPL1_HUMAN UniProtKB-AC Q9NZN1 http://www.uniprot.org/uniprot/Q9NZN1 charge swissprot:IRPL1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:IRPL1_HUMAN eggNOG ENOG410IF3G http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IF3G eggNOG ENOG4110Z8K http://eggnogapi.embl.de/nog_data/html/tree/ENOG4110Z8K epestfind swissprot:IRPL1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:IRPL1_HUMAN garnier swissprot:IRPL1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:IRPL1_HUMAN helixturnhelix swissprot:IRPL1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:IRPL1_HUMAN hmoment swissprot:IRPL1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:IRPL1_HUMAN iep swissprot:IRPL1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:IRPL1_HUMAN inforesidue swissprot:IRPL1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:IRPL1_HUMAN neXtProt NX_Q9NZN1 http://www.nextprot.org/db/entry/NX_Q9NZN1 octanol swissprot:IRPL1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:IRPL1_HUMAN pepcoil swissprot:IRPL1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:IRPL1_HUMAN pepdigest swissprot:IRPL1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:IRPL1_HUMAN pepinfo swissprot:IRPL1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:IRPL1_HUMAN pepnet swissprot:IRPL1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:IRPL1_HUMAN pepstats swissprot:IRPL1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:IRPL1_HUMAN pepwheel swissprot:IRPL1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:IRPL1_HUMAN pepwindow swissprot:IRPL1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:IRPL1_HUMAN sigcleave swissprot:IRPL1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:IRPL1_HUMAN ## Database ID URL or Descriptions # AltName AQP2_HUMAN ADH water channel # AltName AQP2_HUMAN Aquaporin-CD # AltName AQP2_HUMAN Collecting duct water channel protein # AltName AQP2_HUMAN WCH-CD # AltName AQP2_HUMAN Water channel protein for renal collecting duct # CDD cd00333 MIP # DISEASE AQP2_HUMAN Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM 125800] A disorder caused by the inability of the renal collecting ducts to absorb water in response to arginine vasopressin. Characterized by excessive water drinking (polydipsia), excessive urine excretion (polyuria), persistent hypotonic urine, and hypokalemia. Inheritance can be autosomal dominant or recessive. {ECO 0000269|PubMed 12050236, ECO 0000269|PubMed 12191971, ECO 0000269|PubMed 15509592, ECO 0000269|PubMed 16120822, ECO 0000269|PubMed 16361827, ECO 0000269|PubMed 16845277, ECO 0000269|PubMed 19585583, ECO 0000269|PubMed 24944815, ECO 0000269|PubMed 7524315, ECO 0000269|PubMed 8882880, ECO 0000269|PubMed 9048343, ECO 0000269|PubMed 9302264, ECO 0000269|PubMed 9402087, ECO 0000269|PubMed 9550615, ECO 0000269|PubMed 9649557, ECO 0000269|PubMed 9745427}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DOMAIN AQP2_HUMAN Aquaporins contain two tandem repeats each containing three membrane-spanning domains and a pore-forming loop with the signature motif Asn-Pro-Ala (NPA). # Ensembl ENST00000199280 ENSP00000199280; ENSG00000167580 # ExpressionAtlas P41181 baseline and differential # FUNCTION AQP2_HUMAN Forms a water-specific channel that provides the plasma membranes of renal collecting duct with high permeability to water, thereby permitting water to move in the direction of an osmotic gradient. # GO_component GO:0005794 Golgi apparatus; IEA:UniProtKB-SubCell. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:0016020 membrane; IDA:MGI. # GO_component GO:0016323 basolateral plasma membrane; IEA:UniProtKB-SubCell. # GO_component GO:0016324 apical plasma membrane; IDA:UniProtKB. # GO_component GO:0030658 transport vesicle membrane; TAS:Reactome. # GO_component GO:0055037 recycling endosome; IEA:Ensembl. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0005372 water transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0015168 glycerol transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0015250 water channel activity; EXP:Reactome. # GO_function GO:0015254 glycerol channel activity; IBA:GO_Central. # GO_process GO:0003091 renal water homeostasis; TAS:Reactome. # GO_process GO:0003097 renal water transport; IEA:Ensembl. # GO_process GO:0006833 water transport; IDA:UniProtKB. # GO_process GO:0007588 excretion; TAS:ProtInc. # GO_process GO:0009992 cellular water homeostasis; IBA:GO_Central. # GO_process GO:0015793 glycerol transport; IDA:UniProtKB. # GO_process GO:0034220 ion transmembrane transport; IBA:GO_Central. # GO_process GO:0042631 cellular response to water deprivation; IEA:Ensembl. # GO_process GO:0071280 cellular response to copper ion; IDA:UniProtKB. # GO_process GO:0071288 cellular response to mercury ion; IDA:UniProtKB. # GO_process GO:0072205 metanephric collecting duct development; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005768 endosome # GOslim_component GO:0005794 Golgi apparatus # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0055085 transmembrane transport # Gene3D 1.20.1080.10 -; 1. # Genevisible P41181 HS # HGNC HGNC:634 AQP2 # InterPro IPR000425 MIP # InterPro IPR022357 MIP_CS # InterPro IPR023271 Aquaporin-like # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00252 [Endocrine disease; Kidney disease] Congenital nephrogenic diabetes insipidus (NDI) # KEGG_Pathway ko04962 Vasopressin-regulated water reabsorption # MIM 107777 gene # MIM 125800 phenotype # Organism AQP2_HUMAN Homo sapiens (Human) # Orphanet 223 Nephrogenic diabetes insipidus # PANTHER PTHR19139 PTHR19139 # PDB 4NEF X-ray; 2.75 A; A/B/C/D=3-241 # PDB 4OJ2 X-ray; 3.05 A; X=1-271 # PIR A53442 A53442 # PIR I64818 I64818 # PRINTS PR00783 MINTRINSICP # PROSITE PS00221 MIP # PTM AQP2_HUMAN Ser-256 phosphorylation is necessary and sufficient for expression at the apical membrane. Endocytosis is not phosphorylation-dependent. {ECO 0000269|PubMed 12194985}. # Pfam PF00230 MIP # Proteomes UP000005640 Chromosome 12 # Reactome R-HSA-432040 Vasopressin regulates renal water homeostasis via Aquaporins # Reactome R-HSA-432047 Passive transport by Aquaporins # RecName AQP2_HUMAN Aquaporin-2 # RefSeq NP_000477 NM_000486.5 # SIMILARITY Belongs to the MIP/aquaporin (TC 1.A.8) family. {ECO 0000305}. # SUBCELLULAR LOCATION AQP2_HUMAN Apical cell membrane {ECO 0000269|PubMed 12194985}; Multi-pass membrane protein {ECO 0000269|PubMed 12194985}. Basolateral cell membrane {ECO 0000250}; Multi-pass membrane protein {ECO 0000250}. Cytoplasmic vesicle membrane {ECO 0000269|PubMed 12194985}; Multi- pass membrane protein {ECO 0000269|PubMed 12194985}. Golgi apparatus, trans-Golgi network membrane {ECO 0000269|PubMed 12194985}; Multi-pass membrane protein {ECO 0000269|PubMed 12194985}. Note=Shuttles from vesicles to the apical membrane. Vasopressin-regulated phosphorylation is required for translocation to the apical cell membrane. PLEKHA8/FAPP2 is required to transport AQP2 from the TGN to sites where AQP2 is phosphorylated. # SUPFAM SSF81338 SSF81338 # TCDB 1.A.8.8 the major intrinsic protein (mip) family # TIGRFAMs TIGR00861 MIP # TISSUE SPECIFICITY AQP2_HUMAN Expressed in renal collecting tubules. # UCSC uc001rvn human # eggNOG COG0580 LUCA # eggNOG KOG0223 Eukaryota BLAST swissprot:AQP2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:AQP2_HUMAN BioCyc ZFISH:ENSG00000167580-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000167580-MONOMER COXPRESdb 359 http://coxpresdb.jp/data/gene/359.shtml CleanEx HS_AQP2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_AQP2 DOI 10.1002/humu.21068 http://dx.doi.org/10.1002/humu.21068 DOI 10.1002/humu.21082 http://dx.doi.org/10.1002/humu.21082 DOI 10.1007/s004390050264 http://dx.doi.org/10.1007/s004390050264 DOI 10.1074/jbc.M207525200 http://dx.doi.org/10.1074/jbc.M207525200 DOI 10.1093/hmg/11.7.779 http://dx.doi.org/10.1093/hmg/11.7.779 DOI 10.1093/hmg/6.11.1865 http://dx.doi.org/10.1093/hmg/6.11.1865 DOI 10.1093/hmg/ddh339 http://dx.doi.org/10.1093/hmg/ddh339 DOI 10.1097/01.ASN.0000027355.41663.14 http://dx.doi.org/10.1097/01.ASN.0000027355.41663.14 DOI 10.1097/01.gim.0000223554.46981.7a http://dx.doi.org/10.1097/01.gim.0000223554.46981.7a DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.8140421 http://dx.doi.org/10.1126/science.8140421 DOI 10.1172/JCI117079 http://dx.doi.org/10.1172/JCI117079 DOI 10.1172/JCI2605 http://dx.doi.org/10.1172/JCI2605 DOI 10.1210/jc.83.9.3205 http://dx.doi.org/10.1210/jc.83.9.3205 DOI 10.1210/jc.87.6.2694 http://dx.doi.org/10.1210/jc.87.6.2694 DOI 10.1681/ASN.2005010104 http://dx.doi.org/10.1681/ASN.2005010104 DOI 10.3346/jkms.2005.20.6.1076 http://dx.doi.org/10.3346/jkms.2005.20.6.1076 DOI 10.3892/br.2014.283 http://dx.doi.org/10.3892/br.2014.283 EMBL AF147092 http://www.ebi.ac.uk/ena/data/view/AF147092 EMBL AF147093 http://www.ebi.ac.uk/ena/data/view/AF147093 EMBL BC042496 http://www.ebi.ac.uk/ena/data/view/BC042496 EMBL D31846 http://www.ebi.ac.uk/ena/data/view/D31846 EMBL S73196 http://www.ebi.ac.uk/ena/data/view/S73196 EMBL S73197 http://www.ebi.ac.uk/ena/data/view/S73197 EMBL Z29491 http://www.ebi.ac.uk/ena/data/view/Z29491 Ensembl ENST00000199280 http://www.ensembl.org/id/ENST00000199280 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016323 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:0030658 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030658 GO_component GO:0055037 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055037 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0005372 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005372 GO_function GO:0015168 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015168 GO_function GO:0015250 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015250 GO_function GO:0015254 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015254 GO_process GO:0003091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003091 GO_process GO:0003097 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003097 GO_process GO:0006833 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006833 GO_process GO:0007588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007588 GO_process GO:0009992 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009992 GO_process GO:0015793 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015793 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0042631 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042631 GO_process GO:0071280 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071280 GO_process GO:0071288 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071288 GO_process GO:0072205 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0072205 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GOslim_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 1.20.1080.10 http://www.cathdb.info/version/latest/superfamily/1.20.1080.10 GeneCards AQP2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=AQP2 GeneID 359 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=359 GeneTree ENSGT00760000119223 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119223 HGNC HGNC:634 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:634 HOGENOM HOG000288286 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000288286&db=HOGENOM6 HOVERGEN HBG000312 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG000312&db=HOVERGEN HPA HPA046834 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA046834 InParanoid P41181 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P41181 InterPro IPR000425 http://www.ebi.ac.uk/interpro/entry/IPR000425 InterPro IPR022357 http://www.ebi.ac.uk/interpro/entry/IPR022357 InterPro IPR023271 http://www.ebi.ac.uk/interpro/entry/IPR023271 Jabion 359 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=359 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00252 http://www.genome.jp/dbget-bin/www_bget?H00252 KEGG_Gene hsa:359 http://www.genome.jp/dbget-bin/www_bget?hsa:359 KEGG_Orthology KO:K09865 http://www.genome.jp/dbget-bin/www_bget?KO:K09865 KEGG_Pathway ko04962 http://www.genome.jp/kegg-bin/show_pathway?ko04962 MIM 107777 http://www.ncbi.nlm.nih.gov/omim/107777 MIM 125800 http://www.ncbi.nlm.nih.gov/omim/125800 OMA DHSPADY http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=DHSPADY Orphanet 223 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=223 OrthoDB EOG091G166T http://cegg.unige.ch/orthodb/results?searchtext=EOG091G166T PANTHER PTHR19139 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR19139 PDB 4NEF http://www.ebi.ac.uk/pdbe-srv/view/entry/4NEF PDB 4OJ2 http://www.ebi.ac.uk/pdbe-srv/view/entry/4OJ2 PDBsum 4NEF http://www.ebi.ac.uk/pdbsum/4NEF PDBsum 4OJ2 http://www.ebi.ac.uk/pdbsum/4OJ2 PRINTS PR00783 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00783 PROSITE PS00221 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00221 PSORT swissprot:AQP2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:AQP2_HUMAN PSORT-B swissprot:AQP2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:AQP2_HUMAN PSORT2 swissprot:AQP2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:AQP2_HUMAN Pfam PF00230 http://pfam.xfam.org/family/PF00230 PharmGKB PA24920 http://www.pharmgkb.org/do/serve?objId=PA24920&objCls=Gene Phobius swissprot:AQP2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:AQP2_HUMAN PhylomeDB P41181 http://phylomedb.org/?seqid=P41181 ProteinModelPortal P41181 http://www.proteinmodelportal.org/query/uniprot/P41181 PubMed 11929850 http://www.ncbi.nlm.nih.gov/pubmed/11929850 PubMed 12050236 http://www.ncbi.nlm.nih.gov/pubmed/12050236 PubMed 12191971 http://www.ncbi.nlm.nih.gov/pubmed/12191971 PubMed 12194985 http://www.ncbi.nlm.nih.gov/pubmed/12194985 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15509592 http://www.ncbi.nlm.nih.gov/pubmed/15509592 PubMed 16120822 http://www.ncbi.nlm.nih.gov/pubmed/16120822 PubMed 16361827 http://www.ncbi.nlm.nih.gov/pubmed/16361827 PubMed 16845277 http://www.ncbi.nlm.nih.gov/pubmed/16845277 PubMed 19585583 http://www.ncbi.nlm.nih.gov/pubmed/19585583 PubMed 19701945 http://www.ncbi.nlm.nih.gov/pubmed/19701945 PubMed 24944815 http://www.ncbi.nlm.nih.gov/pubmed/24944815 PubMed 7510718 http://www.ncbi.nlm.nih.gov/pubmed/7510718 PubMed 7522228 http://www.ncbi.nlm.nih.gov/pubmed/7522228 PubMed 7524315 http://www.ncbi.nlm.nih.gov/pubmed/7524315 PubMed 8140421 http://www.ncbi.nlm.nih.gov/pubmed/8140421 PubMed 8882880 http://www.ncbi.nlm.nih.gov/pubmed/8882880 PubMed 9048343 http://www.ncbi.nlm.nih.gov/pubmed/9048343 PubMed 9302264 http://www.ncbi.nlm.nih.gov/pubmed/9302264 PubMed 9402087 http://www.ncbi.nlm.nih.gov/pubmed/9402087 PubMed 9550615 http://www.ncbi.nlm.nih.gov/pubmed/9550615 PubMed 9649557 http://www.ncbi.nlm.nih.gov/pubmed/9649557 PubMed 9745427 http://www.ncbi.nlm.nih.gov/pubmed/9745427 Reactome R-HSA-432040 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-432040 Reactome R-HSA-432047 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-432047 RefSeq NP_000477 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000477 SMR P41181 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P41181 STRING 9606.ENSP00000199280 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000199280&targetmode=cogs SUPFAM SSF81338 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81338 TCDB 1.A.8.8 http://www.tcdb.org/search/result.php?tc=1.A.8.8 TIGRFAMs TIGR00861 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00861 UCSC uc001rvn http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001rvn&org=rat UniGene Hs.130730 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.130730 UniProtKB AQP2_HUMAN http://www.uniprot.org/uniprot/AQP2_HUMAN UniProtKB-AC P41181 http://www.uniprot.org/uniprot/P41181 charge swissprot:AQP2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:AQP2_HUMAN eggNOG COG0580 http://eggnogapi.embl.de/nog_data/html/tree/COG0580 eggNOG KOG0223 http://eggnogapi.embl.de/nog_data/html/tree/KOG0223 epestfind swissprot:AQP2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:AQP2_HUMAN garnier swissprot:AQP2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:AQP2_HUMAN helixturnhelix swissprot:AQP2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:AQP2_HUMAN hmoment swissprot:AQP2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:AQP2_HUMAN iep swissprot:AQP2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:AQP2_HUMAN inforesidue swissprot:AQP2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:AQP2_HUMAN neXtProt NX_P41181 http://www.nextprot.org/db/entry/NX_P41181 octanol swissprot:AQP2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:AQP2_HUMAN pepcoil swissprot:AQP2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:AQP2_HUMAN pepdigest swissprot:AQP2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:AQP2_HUMAN pepinfo swissprot:AQP2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:AQP2_HUMAN pepnet swissprot:AQP2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:AQP2_HUMAN pepstats swissprot:AQP2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:AQP2_HUMAN pepwheel swissprot:AQP2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:AQP2_HUMAN pepwindow swissprot:AQP2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:AQP2_HUMAN sigcleave swissprot:AQP2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:AQP2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS ZDH13_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q8IUH4-1; Sequence=Displayed; Name=2; IsoId=Q8IUH4-2; Sequence=VSP_010029; Name=3; IsoId=Q8IUH4-3; Sequence=VSP_010028; # AltName Huntingtin-interacting protein 14-related protein {ECO:0000303|PubMed 12393793} # AltName Huntingtin-interacting protein HIP3RP {ECO:0000312|EMBL BAC22090.1} # AltName Putative MAPK-activating protein PM03 {ECO:0000312|EMBL BAC77380.1} # AltName Putative NF-kappa-B-activating protein 209 {ECO:0000312|EMBL BAC77367.1} # AltName Zinc finger DHHC domain-containing protein 13 {ECO:0000312|HGNC HGNC:18413} # BioGrid 119999 6 # CATALYTIC ACTIVITY Palmitoyl-CoA + [protein]-L-cysteine = [protein]-S-palmitoyl-L-cysteine + CoA. {ECO:0000250|UniProtKB Q9CWU2}. # CCDS CCDS44550 -. [Q8IUH4-1] # CCDS CCDS44551 -. [Q8IUH4-3] # DOMAIN ZDH13_HUMAN The DHHC domain is required for palmitoyltransferase activity. {ECO 0000250|UniProtKB Q8IUH5}. # Ensembl ENST00000399351 ENSP00000382288; ENSG00000177054. [Q8IUH4-3] # Ensembl ENST00000446113 ENSP00000400113; ENSG00000177054. [Q8IUH4-1] # FUNCTION ZDH13_HUMAN Palmitoyltransferase for HD and GAD2. May play a role in Mg(2+) transport. {ECO 0000250|UniProtKB Q9CWU2}. # GO_component GO:0000139 Golgi membrane; ISS:UniProtKB. # GO_component GO:0005783 endoplasmic reticulum; IDA:UniProtKB. # GO_component GO:0005794 Golgi apparatus; IDA:HPA. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0030659 cytoplasmic vesicle membrane; IEA:UniProtKB-SubCell. # GO_component GO:0030660 Golgi-associated vesicle membrane; ISS:UniProtKB. # GO_component GO:0043231 intracellular membrane-bounded organelle; IDA:HPA. # GO_function GO:0004871 signal transducer activity; IMP:UniProtKB. # GO_function GO:0008270 zinc ion binding; IEA:InterPro. # GO_function GO:0015095 magnesium ion transmembrane transporter activity; ISS:UniProtKB. # GO_function GO:0016409 palmitoyltransferase activity; ISS:UniProtKB. # GO_function GO:0019706 protein-cysteine S-palmitoyltransferase activity; IEA:UniProtKB-EC. # GO_process GO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling; IMP:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_component GO:0005794 Golgi apparatus # GOslim_component GO:0043226 organelle # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0016746 transferase activity, transferring acyl groups # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0008150 biological_process # Gene3D 1.25.40.20 -; 1. # Genevisible Q8IUH4 HS # HGNC HGNC:18413 ZDHHC13 # InterPro IPR001594 Znf_DHHC_palmitoyltrfase # InterPro IPR002110 Ankyrin_rpt # InterPro IPR020683 Ankyrin_rpt-contain_dom # InterPro IPR030290 ZDHHC13 # MIM 612815 gene # Organism ZDH13_HUMAN Homo sapiens (Human) # PANTHER PTHR24161:SF16 PTHR24161:SF16 # PROSITE PS50088 ANK_REPEAT; 4 # PROSITE PS50216 DHHC # PROSITE PS50297 ANK_REP_REGION # Pfam PF01529 zf-DHHC # Pfam PF12796 Ank_2 # Proteomes UP000005640 Chromosome 11 # RecName Palmitoyltransferase ZDHHC13 {ECO 0000305} # RefSeq NP_001001483 NM_001001483.2. [Q8IUH4-3] # RefSeq NP_061901 NM_019028.2. [Q8IUH4-1] # RefSeq XP_005253053 XM_005252996.2. [Q8IUH4-3] # RefSeq XP_011518497 XM_011520195.1. [Q8IUH4-3] # SEQUENCE CAUTION Sequence=BAA91856.1; Type=Erroneous termination; Positions=482; Note=Translated as Cys.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the DHHC palmitoyltransferase family. AKR/ZDHHC17 subfamily. {ECO 0000305}. # SIMILARITY Contains 1 DHHC domain. {ECO:0000255|PROSITE- ProRule PRU00067}. # SIMILARITY Contains 7 ANK repeats. {ECO:0000255|PROSITE- ProRule PRU00023}. # SMART SM00248 ANK; 6 # SUBCELLULAR LOCATION ZDH13_HUMAN Golgi apparatus membrane {ECO 0000250|UniProtKB Q9CWU2}; Multi-pass membrane protein {ECO 0000255}. Cytoplasmic vesicle membrane {ECO 0000250|UniProtKB Q9CWU2}; Multi-pass membrane protein {ECO 0000255}. Note=Low extracellular Mg(2+) induces increase in Golgi and in post-Golgi vesicles. {ECO 0000250|UniProtKB Q9CWU2}. # SUBUNIT ZDH13_HUMAN Interacts (via ANK repeats) with CLIP3 (PubMed 26198635). Interacts (via ANK repeats) with DNAJC5 (via C-terminus) (By similarity). Interacts (via ANK repeats) with HTT (PubMed 26198635). Interacts (via ANK repeats) with MAP6 (PubMed 26198635). Interacts (via ANK repeats) with SNAP23 (By similarity). Interacts (via ANK repeats) with SNAP25 (By similarity). {ECO 0000250|UniProtKB Q9CWU2, ECO 0000269|PubMed 26198635}. # SUPFAM SSF48403 SSF48403 # TCDB 9.B.37.3 the huntington-interacting protein 14 (hip14) family # UCSC uc001mpi human. [Q8IUH4-1] # eggNOG COG0666 LUCA # eggNOG COG5273 LUCA # eggNOG KOG0509 Eukaryota BLAST swissprot:ZDH13_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ZDH13_HUMAN COXPRESdb 54503 http://coxpresdb.jp/data/gene/54503.shtml CleanEx HS_ZDHHC13 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ZDHHC13 DOI 10.1038/nature04632 http://dx.doi.org/10.1038/nature04632 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1038/sj.onc.1206406 http://dx.doi.org/10.1038/sj.onc.1206406 DOI 10.1073/pnas.1210303109 http://dx.doi.org/10.1073/pnas.1210303109 DOI 10.1074/jbc.M115.657668 http://dx.doi.org/10.1074/jbc.M115.657668 DOI 10.1093/hmg/11.23.2815 http://dx.doi.org/10.1093/hmg/11.23.2815 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EC_number EC:2.3.1.225 {ECO:0000250|UniProtKB:Q9CWU2} http://www.genome.jp/dbget-bin/www_bget?EC:2.3.1.225 {ECO:0000250|UniProtKB:Q9CWU2} EMBL AB024495 http://www.ebi.ac.uk/ena/data/view/AB024495 EMBL AB097014 http://www.ebi.ac.uk/ena/data/view/AB097014 EMBL AB097027 http://www.ebi.ac.uk/ena/data/view/AB097027 EMBL AC009652 http://www.ebi.ac.uk/ena/data/view/AC009652 EMBL AK001714 http://www.ebi.ac.uk/ena/data/view/AK001714 EMBL AK001831 http://www.ebi.ac.uk/ena/data/view/AK001831 EMBL BC036020 http://www.ebi.ac.uk/ena/data/view/BC036020 EMBL BC050690 http://www.ebi.ac.uk/ena/data/view/BC050690 EMBL BC056152 http://www.ebi.ac.uk/ena/data/view/BC056152 ENZYME 2.3.1.225 {ECO:0000250|UniProtKB:Q9CWU2} http://enzyme.expasy.org/EC/2.3.1.225 {ECO:0000250|UniProtKB:Q9CWU2} Ensembl ENST00000399351 http://www.ensembl.org/id/ENST00000399351 Ensembl ENST00000446113 http://www.ensembl.org/id/ENST00000446113 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000139 GO_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GO_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0030659 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030659 GO_component GO:0030660 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030660 GO_component GO:0043231 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043231 GO_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GO_function GO:0008270 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008270 GO_function GO:0015095 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015095 GO_function GO:0016409 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016409 GO_function GO:0019706 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019706 GO_process GO:0043123 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043123 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0016746 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016746 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 Gene3D 1.25.40.20 http://www.cathdb.info/version/latest/superfamily/1.25.40.20 GeneCards ZDHHC13 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ZDHHC13 GeneID 54503 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=54503 GeneTree ENSGT00530000063074 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000063074 HGNC HGNC:18413 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:18413 HOGENOM HOG000290181 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000290181&db=HOGENOM6 HOVERGEN HBG051907 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG051907&db=HOVERGEN HPA HPA016759 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA016759 HPA HPA018791 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA018791 InParanoid Q8IUH4 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8IUH4 IntEnz 2.3.1.225 {ECO:0000250|UniProtKB:Q9CWU2} http://www.ebi.ac.uk/intenz/query?cmd=Search&q=2.3.1.225 {ECO:0000250|UniProtKB:Q9CWU2} InterPro IPR001594 http://www.ebi.ac.uk/interpro/entry/IPR001594 InterPro IPR002110 http://www.ebi.ac.uk/interpro/entry/IPR002110 InterPro IPR020683 http://www.ebi.ac.uk/interpro/entry/IPR020683 InterPro IPR030290 http://www.ebi.ac.uk/interpro/entry/IPR030290 Jabion 54503 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=54503 KEGG_Gene hsa:54503 http://www.genome.jp/dbget-bin/www_bget?hsa:54503 MIM 612815 http://www.ncbi.nlm.nih.gov/omim/612815 OMA HCATTFR http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=HCATTFR OrthoDB EOG091G056H http://cegg.unige.ch/orthodb/results?searchtext=EOG091G056H PANTHER PTHR24161:SF16 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24161:SF16 PROSITE PS50088 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50088 PROSITE PS50216 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50216 PROSITE PS50297 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50297 PSORT swissprot:ZDH13_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ZDH13_HUMAN PSORT-B swissprot:ZDH13_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ZDH13_HUMAN PSORT2 swissprot:ZDH13_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ZDH13_HUMAN Pfam PF01529 http://pfam.xfam.org/family/PF01529 Pfam PF12796 http://pfam.xfam.org/family/PF12796 PharmGKB PA134955878 http://www.pharmgkb.org/do/serve?objId=PA134955878&objCls=Gene Phobius swissprot:ZDH13_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ZDH13_HUMAN PhylomeDB Q8IUH4 http://phylomedb.org/?seqid=Q8IUH4 ProteinModelPortal Q8IUH4 http://www.proteinmodelportal.org/query/uniprot/Q8IUH4 PubMed 12393793 http://www.ncbi.nlm.nih.gov/pubmed/12393793 PubMed 12761501 http://www.ncbi.nlm.nih.gov/pubmed/12761501 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16554811 http://www.ncbi.nlm.nih.gov/pubmed/16554811 PubMed 22814378 http://www.ncbi.nlm.nih.gov/pubmed/22814378 PubMed 26198635 http://www.ncbi.nlm.nih.gov/pubmed/26198635 RefSeq NP_001001483 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001001483 RefSeq NP_061901 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_061901 RefSeq XP_005253053 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005253053 RefSeq XP_011518497 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011518497 SMART SM00248 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00248 SMR Q8IUH4 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q8IUH4 STRING 9606.ENSP00000400113 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000400113&targetmode=cogs SUPFAM SSF48403 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48403 TCDB 9.B.37.3 http://www.tcdb.org/search/result.php?tc=9.B.37.3 UCSC uc001mpi http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001mpi&org=rat UniGene Hs.188569 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.188569 UniProtKB ZDH13_HUMAN http://www.uniprot.org/uniprot/ZDH13_HUMAN UniProtKB-AC Q8IUH4 http://www.uniprot.org/uniprot/Q8IUH4 charge swissprot:ZDH13_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ZDH13_HUMAN eggNOG COG0666 http://eggnogapi.embl.de/nog_data/html/tree/COG0666 eggNOG COG5273 http://eggnogapi.embl.de/nog_data/html/tree/COG5273 eggNOG KOG0509 http://eggnogapi.embl.de/nog_data/html/tree/KOG0509 epestfind swissprot:ZDH13_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ZDH13_HUMAN garnier swissprot:ZDH13_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ZDH13_HUMAN helixturnhelix swissprot:ZDH13_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ZDH13_HUMAN hmoment swissprot:ZDH13_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ZDH13_HUMAN iep swissprot:ZDH13_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ZDH13_HUMAN inforesidue swissprot:ZDH13_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ZDH13_HUMAN neXtProt NX_Q8IUH4 http://www.nextprot.org/db/entry/NX_Q8IUH4 octanol swissprot:ZDH13_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ZDH13_HUMAN pepcoil swissprot:ZDH13_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ZDH13_HUMAN pepdigest swissprot:ZDH13_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ZDH13_HUMAN pepinfo swissprot:ZDH13_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ZDH13_HUMAN pepnet swissprot:ZDH13_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ZDH13_HUMAN pepstats swissprot:ZDH13_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ZDH13_HUMAN pepwheel swissprot:ZDH13_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ZDH13_HUMAN pepwindow swissprot:ZDH13_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ZDH13_HUMAN sigcleave swissprot:ZDH13_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ZDH13_HUMAN ## Database ID URL or Descriptions # AltName IPO9_HUMAN Ran-binding protein 9 # BioGrid 120830 82 # ChiTaRS IPO9 human # Ensembl ENST00000361565 ENSP00000354742; ENSG00000198700 # ExpressionAtlas Q96P70 baseline and differential # FUNCTION IPO9_HUMAN Functions in nuclear protein import as nuclear transport receptor. Serves as receptor for nuclear localization signals (NLS) in cargo substrates. Is thought to mediate docking of the importin/substrate complex to the nuclear pore complex (NPC) through binding to nucleoporin and the complex is subsequently translocated through the pore by an energy requiring, Ran- dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to the importin, the importin/substrate complex dissociates and importin is re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus (By similarity). Mediates the nuclear import of H2B histone (By similarity), RPS7 and RPL18A. Prevents the cytoplasmic aggregation of RPS7 and RPL18A by shielding exposed basic domains. May also import H2A, H3, H4 histones (By similarity), RPL4 and RPL6. {ECO 0000250, ECO 0000269|PubMed 11823430}. # GO_component GO:0005635 nuclear envelope; IBA:GO_Central. # GO_component GO:0005737 cytoplasm; IDA:UniProtKB. # GO_component GO:0005829 cytosol; IBA:GO_Central. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_function GO:0008565 protein transporter activity; IDA:UniProtKB. # GO_function GO:0042393 histone binding; ISS:UniProtKB. # GO_process GO:0006606 protein import into nucleus; NAS:UniProtKB. # GO_process GO:0042991 transcription factor import into nucleus; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005635 nuclear envelope # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005829 cytosol # GOslim_function GO:0008565 protein transporter activity # GOslim_function GO:0042393 histone binding # GOslim_process GO:0006913 nucleocytoplasmic transport # Gene3D 1.25.10.10 -; 3. # Genevisible Q96P70 HS # HGNC HGNC:19425 IPO9 # IntAct Q96P70 23 # InterPro IPR001494 Importin-beta_N # InterPro IPR011989 ARM-like # InterPro IPR016024 ARM-type_fold # Organism IPO9_HUMAN Homo sapiens (Human) # PROSITE PS50166 IMPORTIN_B_NT # Pfam PF03810 IBN_N # Proteomes UP000005640 Chromosome 1 # RecName IPO9_HUMAN Importin-9 # RefSeq NP_060555 NM_018085.4 # SEQUENCE CAUTION IPO9_HUMAN Sequence=AAF28951.1; Type=Frameshift; Positions=982; Evidence={ECO 0000305}; Sequence=BAA86506.1; Type=Erroneous initiation; Evidence={ECO 0000305}; Sequence=BAA91588.1; Type=Erroneous initiation; Evidence={ECO 0000305}; Sequence=BAB55181.1; Type=Erroneous initiation; Evidence={ECO 0000305}; Sequence=BAC11173.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the importin beta family. {ECO 0000305}. # SIMILARITY Contains 1 importin N-terminal domain. {ECO:0000255|PROSITE-ProRule PRU00115}. # SMART SM00913 IBN_N # SUBCELLULAR LOCATION IPO9_HUMAN Cytoplasm {ECO 0000250}. Nucleus {ECO 0000250}. # SUBUNIT IPO9_HUMAN Binds with high affinity to RPS7 and RPL18A. The binding is coupled to RanGTP cycles. May bind H2A, H3, H4 histones (By similarity), RPL4 and RPL6 with low affinity. Interacts with PPP2R1A and PPP2R1B. {ECO 0000250, ECO 0000269|PubMed 11823430, ECO 0000269|PubMed 12670497}. # SUPFAM SSF48371 SSF48371; 2 # TCDB 1.I.1.1 the nuclear pore complex (npc) family # UCSC uc001gwz human # eggNOG COG5657 LUCA # eggNOG KOG2274 Eukaryota BLAST swissprot:IPO9_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:IPO9_HUMAN COXPRESdb 55705 http://coxpresdb.jp/data/gene/55705.shtml CleanEx HS_IPO9 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_IPO9 CleanEx HS_RANBP9 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_RANBP9 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1016/S0006-291X(03)00434-0 http://dx.doi.org/10.1016/S0006-291X(03)00434-0 DOI 10.1016/j.molcel.2008.07.007 http://dx.doi.org/10.1016/j.molcel.2008.07.007 DOI 10.1021/ac9004309 http://dx.doi.org/10.1021/ac9004309 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/mcp.M111.015131 http://dx.doi.org/10.1074/mcp.M111.015131 DOI 10.1093/dnares/6.5.329 http://dx.doi.org/10.1093/dnares/6.5.329 DOI 10.1093/emboj/21.3.377 http://dx.doi.org/10.1093/emboj/21.3.377 DOI 10.1101/gr.140200 http://dx.doi.org/10.1101/gr.140200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AB033018 http://www.ebi.ac.uk/ena/data/view/AB033018 EMBL AF161391 http://www.ebi.ac.uk/ena/data/view/AF161391 EMBL AF410465 http://www.ebi.ac.uk/ena/data/view/AF410465 EMBL AK001264 http://www.ebi.ac.uk/ena/data/view/AK001264 EMBL AK027532 http://www.ebi.ac.uk/ena/data/view/AK027532 EMBL AK074740 http://www.ebi.ac.uk/ena/data/view/AK074740 EMBL AK094603 http://www.ebi.ac.uk/ena/data/view/AK094603 EMBL AL645504 http://www.ebi.ac.uk/ena/data/view/AL645504 EMBL AL834323 http://www.ebi.ac.uk/ena/data/view/AL834323 EMBL BC003604 http://www.ebi.ac.uk/ena/data/view/BC003604 EMBL CH471067 http://www.ebi.ac.uk/ena/data/view/CH471067 Ensembl ENST00000361565 http://www.ensembl.org/id/ENST00000361565 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005635 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005635 GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GO_function GO:0042393 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042393 GO_process GO:0006606 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006606 GO_process GO:0042991 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042991 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005635 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005635 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_function GO:0008565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008565 GOslim_function GO:0042393 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042393 GOslim_process GO:0006913 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006913 Gene3D 1.25.10.10 http://www.cathdb.info/version/latest/superfamily/1.25.10.10 GeneCards IPO9 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=IPO9 GeneID 55705 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=55705 GeneTree ENSGT00390000008224 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000008224 HGNC HGNC:19425 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:19425 HOVERGEN HBG049054 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG049054&db=HOVERGEN HPA HPA054894 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA054894 HPA HPA059540 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA059540 InParanoid Q96P70 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q96P70 IntAct Q96P70 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q96P70* InterPro IPR001494 http://www.ebi.ac.uk/interpro/entry/IPR001494 InterPro IPR011989 http://www.ebi.ac.uk/interpro/entry/IPR011989 InterPro IPR016024 http://www.ebi.ac.uk/interpro/entry/IPR016024 Jabion 55705 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=55705 KEGG_Gene hsa:55705 http://www.genome.jp/dbget-bin/www_bget?hsa:55705 MINT MINT-1153224 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1153224 OMA GAEHWWK http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=GAEHWWK OrthoDB EOG091G01DL http://cegg.unige.ch/orthodb/results?searchtext=EOG091G01DL PROSITE PS50166 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50166 PSORT swissprot:IPO9_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:IPO9_HUMAN PSORT-B swissprot:IPO9_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:IPO9_HUMAN PSORT2 swissprot:IPO9_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:IPO9_HUMAN Pfam PF03810 http://pfam.xfam.org/family/PF03810 PharmGKB PA134930111 http://www.pharmgkb.org/do/serve?objId=PA134930111&objCls=Gene Phobius swissprot:IPO9_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:IPO9_HUMAN PhylomeDB Q96P70 http://phylomedb.org/?seqid=Q96P70 ProteinModelPortal Q96P70 http://www.proteinmodelportal.org/query/uniprot/Q96P70 PubMed 10574461 http://www.ncbi.nlm.nih.gov/pubmed/10574461 PubMed 11042152 http://www.ncbi.nlm.nih.gov/pubmed/11042152 PubMed 11823430 http://www.ncbi.nlm.nih.gov/pubmed/11823430 PubMed 12670497 http://www.ncbi.nlm.nih.gov/pubmed/12670497 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 PubMed 18691976 http://www.ncbi.nlm.nih.gov/pubmed/18691976 PubMed 19413330 http://www.ncbi.nlm.nih.gov/pubmed/19413330 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 22223895 http://www.ncbi.nlm.nih.gov/pubmed/22223895 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 RefSeq NP_060555 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_060555 SMART SM00913 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00913 STRING 9606.ENSP00000354742 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000354742&targetmode=cogs SUPFAM SSF48371 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48371 TCDB 1.I.1.1 http://www.tcdb.org/search/result.php?tc=1.I.1.1 UCSC uc001gwz http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001gwz&org=rat UniGene Hs.596014 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.596014 UniProtKB IPO9_HUMAN http://www.uniprot.org/uniprot/IPO9_HUMAN UniProtKB-AC Q96P70 http://www.uniprot.org/uniprot/Q96P70 charge swissprot:IPO9_HUMAN http://rest.g-language.org/emboss/charge/swissprot:IPO9_HUMAN eggNOG COG5657 http://eggnogapi.embl.de/nog_data/html/tree/COG5657 eggNOG KOG2274 http://eggnogapi.embl.de/nog_data/html/tree/KOG2274 epestfind swissprot:IPO9_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:IPO9_HUMAN garnier swissprot:IPO9_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:IPO9_HUMAN helixturnhelix swissprot:IPO9_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:IPO9_HUMAN hmoment swissprot:IPO9_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:IPO9_HUMAN iep swissprot:IPO9_HUMAN http://rest.g-language.org/emboss/iep/swissprot:IPO9_HUMAN inforesidue swissprot:IPO9_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:IPO9_HUMAN neXtProt NX_Q96P70 http://www.nextprot.org/db/entry/NX_Q96P70 octanol swissprot:IPO9_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:IPO9_HUMAN pepcoil swissprot:IPO9_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:IPO9_HUMAN pepdigest swissprot:IPO9_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:IPO9_HUMAN pepinfo swissprot:IPO9_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:IPO9_HUMAN pepnet swissprot:IPO9_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:IPO9_HUMAN pepstats swissprot:IPO9_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:IPO9_HUMAN pepwheel swissprot:IPO9_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:IPO9_HUMAN pepwindow swissprot:IPO9_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:IPO9_HUMAN sigcleave swissprot:IPO9_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:IPO9_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS ABCB5_HUMAN Event=Alternative splicing; Named isoforms=4; Name=4; IsoId=Q2M3G0-4; Sequence=Displayed; Name=2; Synonyms=ABCB5alpha; IsoId=Q2M3G0-2; Sequence=VSP_056752, VSP_056753, VSP_056756; Name=3; IsoId=Q2M3G0-3; Sequence=VSP_056752, VSP_056754, VSP_056755; Note=No experimental confirmation available.; Name=1; Synonyms=ABCB5beta; IsoId=Q2M3G0-1; Sequence=VSP_056752; # AltName ABCB5_HUMAN ABCB5 P-gp # AltName ABCB5_HUMAN P-glycoprotein ABCB5 # BioGrid 131028 2 # CAUTION Was named ABCB1 by some authors. {ECO 0000305}. # CCDS CCDS5371 -. [Q2M3G0-1] # CCDS CCDS55090 -. [Q2M3G0-4] # CCDS CCDS55091 -. [Q2M3G0-2] # CCDS CCDS55092 -. [Q2M3G0-3] # Ensembl ENST00000258738 ENSP00000258738; ENSG00000004846. [Q2M3G0-1] # Ensembl ENST00000404938 ENSP00000384881; ENSG00000004846. [Q2M3G0-4] # Ensembl ENST00000406935 ENSP00000383899; ENSG00000004846. [Q2M3G0-3] # Ensembl ENST00000443026 ENSP00000406730; ENSG00000004846. [Q2M3G0-2] # ExpressionAtlas Q2M3G0 baseline and differential # FUNCTION ABCB5_HUMAN Drug efflux transporter present in a number of stem cells that acts as a regulator of cellular differentiation. Able to mediate efflux from cells of the rhodamine dye and of the therapeutic drug doxorubicin. Specifically present in limbal stem cells, where it plays a key role in corneal development and repair. {ECO 0000269|PubMed 12960149, ECO 0000269|PubMed 15205344, ECO 0000269|PubMed 15899824, ECO 0000269|PubMed 22306008}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IDA:UniProtKB. # GO_function GO:0005524 ATP binding; IEA:UniProtKB-KW. # GO_function GO:0008559 xenobiotic-transporting ATPase activity; TAS:Reactome. # GO_function GO:0015562 efflux transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0042626 ATPase activity, coupled to transmembrane movement of substances; IBA:GO_Central. # GO_process GO:0002481 antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent; IBA:GO_Central. # GO_process GO:0002485 antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent; IBA:GO_Central. # GO_process GO:0002489 antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent; IBA:GO_Central. # GO_process GO:0002591 positive regulation of antigen processing and presentation of peptide antigen via MHC class I; IBA:GO_Central. # GO_process GO:0030154 cell differentiation; IEA:UniProtKB-KW. # GO_process GO:0042391 regulation of membrane potential; IDA:UniProtKB. # GO_process GO:0048058 compound eye corneal lens development; ISS:UniProtKB. # GO_process GO:0055085 transmembrane transport; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0002376 immune system process # GOslim_process GO:0008150 biological_process # GOslim_process GO:0030154 cell differentiation # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0055085 transmembrane transport # Gene3D 3.40.50.300 -; 2. # Genevisible Q2M3G0 HS # HGNC HGNC:46 ABCB5 # InterPro IPR003439 ABC_transporter-like # InterPro IPR003593 AAA+_ATPase # InterPro IPR011527 ABC1_TM_dom # InterPro IPR017871 ABC_transporter_CS # InterPro IPR027417 P-loop_NTPase # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02000 Transporters # KEGG_Pathway ko02010 ABC transporters # MIM 611785 gene # MISCELLANEOUS ABCB5_HUMAN Acts as a marker of stem-like cells (CSC) in a number of malignancies (PubMed 24934811). Associated with clinical drug resistance, tumor progression and disease recurrence in malignant melanoma and acute leukemias. Responsible for the resistance to doxorubicin of a subset of malignant melanomas. ABCB5-expressing cells selectively survive when exposed to dacarbazine drug, the reference treatment of metastatic melanoma, vemurafenib and other various chemotherapeutic drugs, suggesting that anti-melanoma chemotherapy participates in the chemoresistance acquisition by selecting tumor cell subpopulations expressing ABCB5 (PubMed 22784549, PubMed 22044138, PubMed 22675422, PubMed 23770371, PubMed 24934811). Present in melanoma-initiating cells that acts as an enhancer of tumor growth by promoting CSC maintenance and tumor growth by controlling IL- 1beta (IL1B) secretion to maintain slow-cycling, chemoresistant cells through an IL-1beta (IL1B)/IL8/CXCR1 cytokine signaling circuit (PubMed 24934811). {ECO 0000305|PubMed 22044138, ECO 0000305|PubMed 22675422, ECO 0000305|PubMed 22784549, ECO 0000305|PubMed 23770371, ECO 0000305|PubMed 24934811}. # Organism ABCB5_HUMAN Homo sapiens (Human) # PROSITE PS00211 ABC_TRANSPORTER_1; 2 # PROSITE PS50893 ABC_TRANSPORTER_2; 2 # PROSITE PS50929 ABC_TM1F # Pfam PF00005 ABC_tran; 2 # Pfam PF00664 ABC_membrane; 2 # Proteomes UP000005640 Chromosome 7 # Reactome R-HSA-382556 ABC-family proteins mediated transport # RecName ABCB5_HUMAN ATP-binding cassette sub-family B member 5 # RefSeq NP_001157413 NM_001163941.1. [Q2M3G0-4] # RefSeq NP_001157414 NM_001163942.1. [Q2M3G0-2] # RefSeq NP_001157465 NM_001163993.2. [Q2M3G0-3] # RefSeq NP_848654 NM_178559.5. [Q2M3G0-1] # RefSeq XP_011513669 XM_011515367.2. [Q2M3G0-1] # SEQUENCE CAUTION Sequence=AAN76500.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAQ03033.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the ABC transporter superfamily. ABCB family. Multidrug resistance exporter (TC 3.A.1.201) subfamily. {ECO 0000305}. # SIMILARITY Contains 2 ABC transmembrane type-1 domains. {ECO:0000255|PROSITE-ProRule PRU00441}. # SIMILARITY Contains 2 ABC transporter domains. {ECO:0000255|PROSITE-ProRule PRU00434}. # SMART SM00382 AAA; 2 # SUBCELLULAR LOCATION ABCB5_HUMAN Cell membrane {ECO 0000269|PubMed 12960149}; Multi-pass membrane protein {ECO 0000255|PROSITE-ProRule PRU00441, ECO 0000269|PubMed 12960149}. # SUPFAM SSF52540 SSF52540; 2 # SUPFAM SSF90123 SSF90123; 2 # TCDB 3.A.1.201.13 the atp-binding cassette (abc) superfamily # TISSUE SPECIFICITY ABCB5_HUMAN Expressed by CD133-expressing progenitor cells among epidermal melanocytes (at protein level). Widely expressed with specific expression in pigment cells. Highly expressed in several malignant tissues highly expressed in clinical melanomas, with low expression in normal skin. In melanoma, marks malignant melanoma-initiating cells (MMIC), in which clinical virulence resides as a consequence of unlimited self-renewal capacity, resulting in inexorable tumor progression and metastasis. Also highly expressed in a number of leukemia cells. Expressed in basal limbal epithelium. {ECO 0000269|PubMed 12960149, ECO 0000269|PubMed 15760339, ECO 0000269|PubMed 22044138, ECO 0000269|PubMed 22675422, ECO 0000269|PubMed 22784549, ECO 0000269|PubMed 23770371, ECO 0000269|PubMed 24934811, ECO 0000269|PubMed 25030174}. # UCSC uc003suv human. [Q2M3G0-4] # WEB RESOURCE ABCB5_HUMAN Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http //atlasgeneticsoncology.org/Genes/ABCB5ID44305ch7p15.html"; # eggNOG COG1132 LUCA # eggNOG KOG0055 Eukaryota BLAST swissprot:ABCB5_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ABCB5_HUMAN BioCyc ZFISH:HS11997-MONOMER http://biocyc.org/getid?id=ZFISH:HS11997-MONOMER COXPRESdb 340273 http://coxpresdb.jp/data/gene/340273.shtml CleanEx HS_ABCB5 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ABCB5 DOI 10.1016/j.bbrc.2012.01.090 http://dx.doi.org/10.1016/j.bbrc.2012.01.090 DOI 10.1016/j.bbrc.2013.06.006 http://dx.doi.org/10.1016/j.bbrc.2013.06.006 DOI 10.1016/j.ejca.2012.05.027 http://dx.doi.org/10.1016/j.ejca.2012.05.027 DOI 10.1038/nature01782 http://dx.doi.org/10.1038/nature01782 DOI 10.1038/nature13426 http://dx.doi.org/10.1038/nature13426 DOI 10.1074/jbc.M308700200 http://dx.doi.org/10.1074/jbc.M308700200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1600-0749.2005.00214.x http://dx.doi.org/10.1111/j.1600-0749.2005.00214.x DOI 10.1126/science.1083423 http://dx.doi.org/10.1126/science.1083423 DOI 10.1126/science.1133427 http://dx.doi.org/10.1126/science.1133427 DOI 10.1126/science.1164368 http://dx.doi.org/10.1126/science.1164368 DOI 10.1158/0008-5472.CAN-03-3884 http://dx.doi.org/10.1158/0008-5472.CAN-03-3884 DOI 10.1158/0008-5472.CAN-04-3327 http://dx.doi.org/10.1158/0008-5472.CAN-04-3327 DOI 10.1158/0008-5472.CAN-11-0221 http://dx.doi.org/10.1158/0008-5472.CAN-11-0221 DOI 10.1158/0008-5472.CAN-14-0582 http://dx.doi.org/10.1158/0008-5472.CAN-14-0582 DOI 10.1371/journal.pone.0036762 http://dx.doi.org/10.1371/journal.pone.0036762 DOI 10.3109/10428194.2011.637214 http://dx.doi.org/10.3109/10428194.2011.637214 EMBL AB353947 http://www.ebi.ac.uk/ena/data/view/AB353947 EMBL AC002486 http://www.ebi.ac.uk/ena/data/view/AC002486 EMBL AC005060 http://www.ebi.ac.uk/ena/data/view/AC005060 EMBL AF319622 http://www.ebi.ac.uk/ena/data/view/AF319622 EMBL AF399931 http://www.ebi.ac.uk/ena/data/view/AF399931 EMBL AY090613 http://www.ebi.ac.uk/ena/data/view/AY090613 EMBL AY230001 http://www.ebi.ac.uk/ena/data/view/AY230001 EMBL AY234788 http://www.ebi.ac.uk/ena/data/view/AY234788 EMBL AY851364 http://www.ebi.ac.uk/ena/data/view/AY851364 EMBL AY851365 http://www.ebi.ac.uk/ena/data/view/AY851365 EMBL BC104894 http://www.ebi.ac.uk/ena/data/view/BC104894 EMBL BC104920 http://www.ebi.ac.uk/ena/data/view/BC104920 EMBL BC110370 http://www.ebi.ac.uk/ena/data/view/BC110370 EMBL CH236948 http://www.ebi.ac.uk/ena/data/view/CH236948 EMBL CH471073 http://www.ebi.ac.uk/ena/data/view/CH471073 EMBL GU437216 http://www.ebi.ac.uk/ena/data/view/GU437216 EMBL GU437217 http://www.ebi.ac.uk/ena/data/view/GU437217 Ensembl ENST00000258738 http://www.ensembl.org/id/ENST00000258738 Ensembl ENST00000404938 http://www.ensembl.org/id/ENST00000404938 Ensembl ENST00000406935 http://www.ensembl.org/id/ENST00000406935 Ensembl ENST00000443026 http://www.ensembl.org/id/ENST00000443026 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0008559 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008559 GO_function GO:0015562 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015562 GO_function GO:0042626 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042626 GO_process GO:0002481 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002481 GO_process GO:0002485 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002485 GO_process GO:0002489 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002489 GO_process GO:0002591 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002591 GO_process GO:0030154 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030154 GO_process GO:0042391 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042391 GO_process GO:0048058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048058 GO_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0002376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002376 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0030154 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030154 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 3.40.50.300 http://www.cathdb.info/version/latest/superfamily/3.40.50.300 GeneCards ABCB5 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ABCB5 GeneID 340273 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=340273 GeneTree ENSGT00530000062896 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000062896 H-InvDB HIX0025281 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0025281 HGNC HGNC:46 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:46 HOVERGEN HBG080809 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG080809&db=HOVERGEN HPA HPA026975 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA026975 InParanoid Q2M3G0 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q2M3G0 IntAct Q2M3G0 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q2M3G0* InterPro IPR003439 http://www.ebi.ac.uk/interpro/entry/IPR003439 InterPro IPR003593 http://www.ebi.ac.uk/interpro/entry/IPR003593 InterPro IPR011527 http://www.ebi.ac.uk/interpro/entry/IPR011527 InterPro IPR017871 http://www.ebi.ac.uk/interpro/entry/IPR017871 InterPro IPR027417 http://www.ebi.ac.uk/interpro/entry/IPR027417 Jabion 340273 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=340273 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Gene hsa:340273 http://www.genome.jp/dbget-bin/www_bget?hsa:340273 KEGG_Orthology KO:K05660 http://www.genome.jp/dbget-bin/www_bget?KO:K05660 KEGG_Pathway ko02010 http://www.genome.jp/kegg-bin/show_pathway?ko02010 MIM 611785 http://www.ncbi.nlm.nih.gov/omim/611785 OMA YCIGAAV http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=YCIGAAV OrthoDB EOG091G0HVA http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0HVA PROSITE PS00211 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00211 PROSITE PS50893 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50893 PROSITE PS50929 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50929 PSORT swissprot:ABCB5_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ABCB5_HUMAN PSORT-B swissprot:ABCB5_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ABCB5_HUMAN PSORT2 swissprot:ABCB5_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ABCB5_HUMAN Pfam PF00005 http://pfam.xfam.org/family/PF00005 Pfam PF00664 http://pfam.xfam.org/family/PF00664 PharmGKB PA24387 http://www.pharmgkb.org/do/serve?objId=PA24387&objCls=Gene Phobius swissprot:ABCB5_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ABCB5_HUMAN PhylomeDB Q2M3G0 http://phylomedb.org/?seqid=Q2M3G0 ProteinModelPortal Q2M3G0 http://www.proteinmodelportal.org/query/uniprot/Q2M3G0 PubMed 12690205 http://www.ncbi.nlm.nih.gov/pubmed/12690205 PubMed 12853948 http://www.ncbi.nlm.nih.gov/pubmed/12853948 PubMed 12960149 http://www.ncbi.nlm.nih.gov/pubmed/12960149 PubMed 15205344 http://www.ncbi.nlm.nih.gov/pubmed/15205344 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15760339 http://www.ncbi.nlm.nih.gov/pubmed/15760339 PubMed 15899824 http://www.ncbi.nlm.nih.gov/pubmed/15899824 PubMed 16959974 http://www.ncbi.nlm.nih.gov/pubmed/16959974 PubMed 18772397 http://www.ncbi.nlm.nih.gov/pubmed/18772397 PubMed 21652540 http://www.ncbi.nlm.nih.gov/pubmed/21652540 PubMed 22044138 http://www.ncbi.nlm.nih.gov/pubmed/22044138 PubMed 22306008 http://www.ncbi.nlm.nih.gov/pubmed/22306008 PubMed 22675422 http://www.ncbi.nlm.nih.gov/pubmed/22675422 PubMed 22784549 http://www.ncbi.nlm.nih.gov/pubmed/22784549 PubMed 23770371 http://www.ncbi.nlm.nih.gov/pubmed/23770371 PubMed 24934811 http://www.ncbi.nlm.nih.gov/pubmed/24934811 PubMed 25030174 http://www.ncbi.nlm.nih.gov/pubmed/25030174 Reactome R-HSA-382556 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-382556 RefSeq NP_001157413 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001157413 RefSeq NP_001157414 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001157414 RefSeq NP_001157465 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001157465 RefSeq NP_848654 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_848654 RefSeq XP_011513669 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011513669 SMART SM00382 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00382 SMR Q2M3G0 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q2M3G0 STRING 9606.ENSP00000384881 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000384881&targetmode=cogs SUPFAM SSF52540 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52540 SUPFAM SSF90123 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF90123 TCDB 3.A.1.201.13 http://www.tcdb.org/search/result.php?tc=3.A.1.201.13 UCSC uc003suv http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003suv&org=rat UniGene Hs.404102 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.404102 UniProtKB ABCB5_HUMAN http://www.uniprot.org/uniprot/ABCB5_HUMAN UniProtKB-AC Q2M3G0 http://www.uniprot.org/uniprot/Q2M3G0 charge swissprot:ABCB5_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ABCB5_HUMAN eggNOG COG1132 http://eggnogapi.embl.de/nog_data/html/tree/COG1132 eggNOG KOG0055 http://eggnogapi.embl.de/nog_data/html/tree/KOG0055 epestfind swissprot:ABCB5_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ABCB5_HUMAN garnier swissprot:ABCB5_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ABCB5_HUMAN helixturnhelix swissprot:ABCB5_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ABCB5_HUMAN hmoment swissprot:ABCB5_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ABCB5_HUMAN iep swissprot:ABCB5_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ABCB5_HUMAN inforesidue swissprot:ABCB5_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ABCB5_HUMAN neXtProt NX_Q2M3G0 http://www.nextprot.org/db/entry/NX_Q2M3G0 octanol swissprot:ABCB5_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ABCB5_HUMAN pepcoil swissprot:ABCB5_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ABCB5_HUMAN pepdigest swissprot:ABCB5_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ABCB5_HUMAN pepinfo swissprot:ABCB5_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ABCB5_HUMAN pepnet swissprot:ABCB5_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ABCB5_HUMAN pepstats swissprot:ABCB5_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ABCB5_HUMAN pepwheel swissprot:ABCB5_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ABCB5_HUMAN pepwindow swissprot:ABCB5_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ABCB5_HUMAN sigcleave swissprot:ABCB5_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ABCB5_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS NTCP7_HUMAN Event=Alternative splicing; Named isoforms=7; Name=1; Synonyms=C; IsoId=Q0GE19-1; Sequence=Displayed; Name=2; Synonyms=A; IsoId=Q0GE19-2; Sequence=VSP_023224; Name=3; IsoId=Q0GE19-3; Sequence=VSP_023219, VSP_023224; Name=4; Synonyms=B; IsoId=Q0GE19-4; Sequence=VSP_023222, VSP_023223; Name=5; IsoId=Q0GE19-5; Sequence=VSP_023220, VSP_023221; Note=No experimental confirmation available.; Name=6; IsoId=Q0GE19-6; Sequence=VSP_023216, VSP_023217; Note=No experimental confirmation available.; Name=7; IsoId=Q0GE19-7; Sequence=VSP_023215, VSP_023218; Note=No experimental confirmation available.; # AltName NTCP7_HUMAN Na(+)/bile acid cotransporter 7 # AltName NTCP7_HUMAN Solute carrier family 10 member 7 # BioGrid 123863 11 # CCDS CCDS34073 -. [Q0GE19-2] # CCDS CCDS3768 -. [Q0GE19-5] # CCDS CCDS75198 -. [Q0GE19-1] # CCDS CCDS82962 -. [Q0GE19-7] # CCDS CCDS82963 -. [Q0GE19-3] # CCDS CCDS82964 -. [Q0GE19-6] # ChiTaRS SLC10A7 human # Ensembl ENST00000335472 ENSP00000334594; ENSG00000120519. [Q0GE19-2] # Ensembl ENST00000394059 ENSP00000377623; ENSG00000120519. [Q0GE19-5] # Ensembl ENST00000432059 ENSP00000411297; ENSG00000120519. [Q0GE19-3] # Ensembl ENST00000502607 ENSP00000422577; ENSG00000120519. [Q0GE19-6] # Ensembl ENST00000507030 ENSP00000421275; ENSG00000120519. [Q0GE19-1] # Ensembl ENST00000511374 ENSP00000421603; ENSG00000120519. [Q0GE19-7] # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0015293 symporter activity; IEA:UniProtKB-KW. # GO_process GO:0006814 sodium ion transport; IEA:UniProtKB-KW. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # Genevisible Q0GE19 HS # HGNC HGNC:23088 SLC10A7 # InterPro IPR016833 Put_Na-Bile_cotransptr # KEGG_Brite ko02001 Solute carrier family # MIM 611459 gene # Organism NTCP7_HUMAN Homo sapiens (Human) # PANTHER PTHR18640 PTHR18640 # PIRSF PIRSF026166 UCP026166 # Pfam PF13593 SBF_like # Proteomes UP000005640 Chromosome 4 # RecName NTCP7_HUMAN Sodium/bile acid cotransporter 7 # RefSeq NP_001025169 NM_001029998.5. [Q0GE19-2] # RefSeq NP_001287771 NM_001300842.2. [Q0GE19-1] # RefSeq NP_001304745 NM_001317816.1. [Q0GE19-3] # RefSeq NP_001304746 NM_001317817.1. [Q0GE19-7] # RefSeq NP_001304747 NM_001317818.1. [Q0GE19-6] # RefSeq NP_115504 NM_032128.4. [Q0GE19-5] # RefSeq XP_016864181 XM_017008692.1. [Q0GE19-7] # SEQUENCE CAUTION Sequence=BAC11571.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the unknown BART superfamily-1 (UBS1) (TC 2.A.93) family. {ECO 0000305}. # SUBCELLULAR LOCATION NTCP7_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # TCDB 2.A.28.3:the bile acid na(+) symporter (bass) family # UCSC uc003ikr human. [Q0GE19-1] # eggNOG COG0385 LUCA # eggNOG KOG4821 Eukaryota BLAST swissprot:NTCP7_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:NTCP7_HUMAN COG COG0385 http://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=COG0385 COXPRESdb 84068 http://coxpresdb.jp/data/gene/84068.shtml DOI 10.1007/s10528-005-1509-y http://dx.doi.org/10.1007/s10528-005-1509-y DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1101/gr.GR1547R http://dx.doi.org/10.1101/gr.GR1547R DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 EMBL AK075364 http://www.ebi.ac.uk/ena/data/view/AK075364 EMBL AL136728 http://www.ebi.ac.uk/ena/data/view/AL136728 EMBL AY346324 http://www.ebi.ac.uk/ena/data/view/AY346324 EMBL BC023288 http://www.ebi.ac.uk/ena/data/view/BC023288 EMBL BC063471 http://www.ebi.ac.uk/ena/data/view/BC063471 EMBL BC120970 http://www.ebi.ac.uk/ena/data/view/BC120970 EMBL BC120971 http://www.ebi.ac.uk/ena/data/view/BC120971 EMBL BC127626 http://www.ebi.ac.uk/ena/data/view/BC127626 EMBL BC127627 http://www.ebi.ac.uk/ena/data/view/BC127627 EMBL BC148252 http://www.ebi.ac.uk/ena/data/view/BC148252 EMBL BC150308 http://www.ebi.ac.uk/ena/data/view/BC150308 EMBL CH471056 http://www.ebi.ac.uk/ena/data/view/CH471056 EMBL CR933647 http://www.ebi.ac.uk/ena/data/view/CR933647 EMBL DQ122860 http://www.ebi.ac.uk/ena/data/view/DQ122860 EMBL DQ122861 http://www.ebi.ac.uk/ena/data/view/DQ122861 EMBL DQ871036 http://www.ebi.ac.uk/ena/data/view/DQ871036 Ensembl ENST00000335472 http://www.ensembl.org/id/ENST00000335472 Ensembl ENST00000394059 http://www.ensembl.org/id/ENST00000394059 Ensembl ENST00000432059 http://www.ensembl.org/id/ENST00000432059 Ensembl ENST00000502607 http://www.ensembl.org/id/ENST00000502607 Ensembl ENST00000507030 http://www.ensembl.org/id/ENST00000507030 Ensembl ENST00000511374 http://www.ensembl.org/id/ENST00000511374 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_function GO:0015293 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015293 GO_process GO:0006814 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006814 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GeneCards SLC10A7 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC10A7 GeneID 84068 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=84068 GeneTree ENSGT00390000011932 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000011932 H-InvDB HIX0004549 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0004549 HGNC HGNC:23088 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:23088 HOVERGEN HBG082064 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG082064&db=HOVERGEN HPA HPA039996 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA039996 HPA HPA057906 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA057906 InParanoid Q0GE19 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q0GE19 InterPro IPR016833 http://www.ebi.ac.uk/interpro/entry/IPR016833 Jabion 84068 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=84068 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:84068 http://www.genome.jp/dbget-bin/www_bget?hsa:84068 KEGG_Orthology KO:K14347 http://www.genome.jp/dbget-bin/www_bget?KO:K14347 MIM 611459 http://www.ncbi.nlm.nih.gov/omim/611459 MINT MINT-4721825 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-4721825 OMA FFFYGLK http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=FFFYGLK OrthoDB EOG091G0GR7 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0GR7 PANTHER PTHR18640 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR18640 PSORT swissprot:NTCP7_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:NTCP7_HUMAN PSORT-B swissprot:NTCP7_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:NTCP7_HUMAN PSORT2 swissprot:NTCP7_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:NTCP7_HUMAN Pfam PF13593 http://pfam.xfam.org/family/PF13593 PharmGKB PA162403478 http://www.pharmgkb.org/do/serve?objId=PA162403478&objCls=Gene Phobius swissprot:NTCP7_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:NTCP7_HUMAN PhylomeDB Q0GE19 http://phylomedb.org/?seqid=Q0GE19 ProteinModelPortal Q0GE19 http://www.proteinmodelportal.org/query/uniprot/Q0GE19 PubMed 11230166 http://www.ncbi.nlm.nih.gov/pubmed/11230166 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15932064 http://www.ncbi.nlm.nih.gov/pubmed/15932064 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 RefSeq NP_001025169 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001025169 RefSeq NP_001287771 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001287771 RefSeq NP_001304745 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001304745 RefSeq NP_001304746 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001304746 RefSeq NP_001304747 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001304747 RefSeq NP_115504 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_115504 RefSeq XP_016864181 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016864181 STRING 9606.ENSP00000334594 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000334594&targetmode=cogs STRING COG0385 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=COG0385&targetmode=cogs TCDB 2.A.28.3 http://www.tcdb.org/search/result.php?tc=2.A.28.3 UCSC uc003ikr http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003ikr&org=rat UniGene Hs.659209 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.659209 UniProtKB NTCP7_HUMAN http://www.uniprot.org/uniprot/NTCP7_HUMAN UniProtKB-AC Q0GE19 http://www.uniprot.org/uniprot/Q0GE19 charge swissprot:NTCP7_HUMAN http://rest.g-language.org/emboss/charge/swissprot:NTCP7_HUMAN eggNOG COG0385 http://eggnogapi.embl.de/nog_data/html/tree/COG0385 eggNOG KOG4821 http://eggnogapi.embl.de/nog_data/html/tree/KOG4821 epestfind swissprot:NTCP7_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:NTCP7_HUMAN garnier swissprot:NTCP7_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:NTCP7_HUMAN helixturnhelix swissprot:NTCP7_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:NTCP7_HUMAN hmoment swissprot:NTCP7_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:NTCP7_HUMAN iep swissprot:NTCP7_HUMAN http://rest.g-language.org/emboss/iep/swissprot:NTCP7_HUMAN inforesidue swissprot:NTCP7_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:NTCP7_HUMAN neXtProt NX_Q0GE19 http://www.nextprot.org/db/entry/NX_Q0GE19 octanol swissprot:NTCP7_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:NTCP7_HUMAN pepcoil swissprot:NTCP7_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:NTCP7_HUMAN pepdigest swissprot:NTCP7_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:NTCP7_HUMAN pepinfo swissprot:NTCP7_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:NTCP7_HUMAN pepnet swissprot:NTCP7_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:NTCP7_HUMAN pepstats swissprot:NTCP7_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:NTCP7_HUMAN pepwheel swissprot:NTCP7_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:NTCP7_HUMAN pepwindow swissprot:NTCP7_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:NTCP7_HUMAN sigcleave swissprot:NTCP7_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:NTCP7_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS SC6A9_HUMAN Event=Alternative splicing; Named isoforms=3; Name=GlyT-1C; IsoId=P48067-1; Sequence=Displayed; Name=GlyT-1A; IsoId=P48067-2; Sequence=VSP_006270; Name=GlyT-1B; IsoId=P48067-3; Sequence=VSP_006271; # AltName SC6A9_HUMAN Solute carrier family 6 member 9 # BioGrid 112427 5 # CCDS CCDS30695 -. [P48067-2] # CCDS CCDS41316 -. [P48067-3] # CCDS CCDS41317 -. [P48067-1] # ChiTaRS SLC6A9 human # DrugBank DB00145 Glycine # Ensembl ENST00000357730 ENSP00000350362; ENSG00000196517. [P48067-3] # Ensembl ENST00000360584 ENSP00000353791; ENSG00000196517. [P48067-1] # Ensembl ENST00000372310 ENSP00000361384; ENSG00000196517. [P48067-2] # ExpressionAtlas P48067 baseline and differential # FUNCTION SC6A9_HUMAN Terminates the action of glycine by its high affinity sodium-dependent reuptake into presynaptic terminals. May play a role in regulation of glycine levels in NMDA receptor-mediated neurotransmission. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0016020 membrane; TAS:ProtInc. # GO_component GO:0098793 presynapse; IEA:GOC. # GO_function SC6A9_HUMAN GO 0005328 neurotransmitter sodium symporter activity; IEA InterPro. # GO_function SC6A9_HUMAN GO 0015375 glycine sodium symporter activity; TAS Reactome. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0036233 glycine import; IBA:GO_Central. # GO_process GO:0060012 synaptic transmission, glycinergic; IBA:GO_Central. # GO_process GO:0061537 glycine secretion, neurotransmission; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007267 cell-cell signaling # Genevisible P48067 HS # HGNC HGNC:11056 SLC6A9 # IntAct P48067 4 # InterPro IPR000175 Na/ntran_symport # InterPro IPR003028 Na/ntran_symport_glycine_GLY1 # KEGG_Brite ko02001 Solute carrier family # KEGG_Brite ko04040 Ion channels # MIM 601019 gene # Organism SC6A9_HUMAN Homo sapiens (Human) # PANTHER PTHR11616 PTHR11616; 2 # PIR I57956 I57956 # PIR I77912 I77912 # PRINTS PR00176 NANEUSMPORT # PRINTS PR01204 GLY1TRNSPORT # PROSITE PS00610 NA_NEUROTRAN_SYMP_1 # PROSITE PS00754 NA_NEUROTRAN_SYMP_2 # PROSITE PS50267 NA_NEUROTRAN_SYMP_3 # Pfam PF00209 SNF # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-442660 Na+/Cl- dependent neurotransmitter transporters # RecName SC6A9_HUMAN Sodium- and chloride-dependent glycine transporter 1 # RefSeq NP_001020016 NM_001024845.2. [P48067-2] # RefSeq NP_001315558 NM_001328629.1. [P48067-2] # RefSeq NP_008865 NM_006934.3. [P48067-3] # RefSeq NP_964012 NM_201649.3. [P48067-1] # SEQUENCE CAUTION SC6A9_HUMAN Sequence=AAB30784.1; Type=Frameshift; Positions=8; Evidence={ECO 0000305}; Sequence=AAB30785.1; Type=Frameshift; Positions=8; Evidence={ECO 0000305}; Sequence=CAI19428.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; Sequence=CAI19429.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A9 subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION SC6A9_HUMAN Membrane; Multi-pass membrane protein. # TCDB 2.A.22.2.12:the neurotransmitter sodium symporter (nss) family # TISSUE SPECIFICITY SC6A9_HUMAN Isoform GlyT-1A and isoform GlyT-1B can be found in brain, kidney, pancreas, lung, placenta and liver but isoform GlyT-1C is only found in brain. # UCSC uc001cll human. [P48067-1] # eggNOG COG0733 LUCA # eggNOG KOG3659 Eukaryota BLAST swissprot:SC6A9_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SC6A9_HUMAN BioCyc ZFISH:G66-31595-MONOMER http://biocyc.org/getid?id=ZFISH:G66-31595-MONOMER COXPRESdb 6536 http://coxpresdb.jp/data/gene/6536.shtml CleanEx HS_SLC6A9 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC6A9 DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DrugBank DB00145 http://www.drugbank.ca/drugs/DB00145 EMBL AL139220 http://www.ebi.ac.uk/ena/data/view/AL139220 EMBL AL139220 http://www.ebi.ac.uk/ena/data/view/AL139220 EMBL AL139220 http://www.ebi.ac.uk/ena/data/view/AL139220 EMBL CH471059 http://www.ebi.ac.uk/ena/data/view/CH471059 EMBL CH471059 http://www.ebi.ac.uk/ena/data/view/CH471059 EMBL S70609 http://www.ebi.ac.uk/ena/data/view/S70609 EMBL S70612 http://www.ebi.ac.uk/ena/data/view/S70612 Ensembl ENST00000357730 http://www.ensembl.org/id/ENST00000357730 Ensembl ENST00000360584 http://www.ensembl.org/id/ENST00000360584 Ensembl ENST00000372310 http://www.ensembl.org/id/ENST00000372310 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0098793 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0098793 GO_function GO:0005328 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005328 GO_function GO:0015375 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015375 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0036233 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0036233 GO_process GO:0060012 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060012 GO_process GO:0061537 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061537 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GeneCards SLC6A9 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC6A9 GeneID 6536 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6536 GeneTree ENSGT00760000118857 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118857 HGNC HGNC:11056 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11056 HOVERGEN HBG071421 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG071421&db=HOVERGEN HPA HPA013977 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA013977 InParanoid P48067 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P48067 IntAct P48067 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P48067* InterPro IPR000175 http://www.ebi.ac.uk/interpro/entry/IPR000175 InterPro IPR003028 http://www.ebi.ac.uk/interpro/entry/IPR003028 Jabion 6536 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6536 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:6536 http://www.genome.jp/dbget-bin/www_bget?hsa:6536 KEGG_Orthology KO:K05038 http://www.genome.jp/dbget-bin/www_bget?KO:K05038 MIM 601019 http://www.ncbi.nlm.nih.gov/omim/601019 OrthoDB EOG091G08PX http://cegg.unige.ch/orthodb/results?searchtext=EOG091G08PX PANTHER PTHR11616 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11616 PRINTS PR00176 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00176 PRINTS PR01204 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01204 PROSITE PS00610 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00610 PROSITE PS00754 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00754 PROSITE PS50267 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50267 PSORT swissprot:SC6A9_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SC6A9_HUMAN PSORT-B swissprot:SC6A9_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SC6A9_HUMAN PSORT2 swissprot:SC6A9_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SC6A9_HUMAN Pfam PF00209 http://pfam.xfam.org/family/PF00209 PharmGKB PA35916 http://www.pharmgkb.org/do/serve?objId=PA35916&objCls=Gene Phobius swissprot:SC6A9_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SC6A9_HUMAN PhylomeDB P48067 http://phylomedb.org/?seqid=P48067 ProteinModelPortal P48067 http://www.proteinmodelportal.org/query/uniprot/P48067 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 8183239 http://www.ncbi.nlm.nih.gov/pubmed/8183239 Reactome R-HSA-442660 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-442660 RefSeq NP_001020016 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001020016 RefSeq NP_001315558 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001315558 RefSeq NP_008865 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_008865 RefSeq NP_964012 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_964012 STRING 9606.ENSP00000353791 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000353791&targetmode=cogs TCDB 2.A.22.2.12 http://www.tcdb.org/search/result.php?tc=2.A.22.2.12 UCSC uc001cll http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001cll&org=rat UniGene Hs.442590 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.442590 UniProtKB SC6A9_HUMAN http://www.uniprot.org/uniprot/SC6A9_HUMAN UniProtKB-AC P48067 http://www.uniprot.org/uniprot/P48067 charge swissprot:SC6A9_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SC6A9_HUMAN eggNOG COG0733 http://eggnogapi.embl.de/nog_data/html/tree/COG0733 eggNOG KOG3659 http://eggnogapi.embl.de/nog_data/html/tree/KOG3659 epestfind swissprot:SC6A9_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SC6A9_HUMAN garnier swissprot:SC6A9_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SC6A9_HUMAN helixturnhelix swissprot:SC6A9_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SC6A9_HUMAN hmoment swissprot:SC6A9_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SC6A9_HUMAN iep swissprot:SC6A9_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SC6A9_HUMAN inforesidue swissprot:SC6A9_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SC6A9_HUMAN neXtProt NX_P48067 http://www.nextprot.org/db/entry/NX_P48067 octanol swissprot:SC6A9_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SC6A9_HUMAN pepcoil swissprot:SC6A9_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SC6A9_HUMAN pepdigest swissprot:SC6A9_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SC6A9_HUMAN pepinfo swissprot:SC6A9_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SC6A9_HUMAN pepnet swissprot:SC6A9_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SC6A9_HUMAN pepstats swissprot:SC6A9_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SC6A9_HUMAN pepwheel swissprot:SC6A9_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SC6A9_HUMAN pepwindow swissprot:SC6A9_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SC6A9_HUMAN sigcleave swissprot:SC6A9_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SC6A9_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS SERC5_HUMAN Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q86VE9-1; Sequence=Displayed; Name=2; IsoId=Q86VE9-2; Sequence=VSP_033055; Name=3; IsoId=Q86VE9-3; Sequence=VSP_033054; Name=4; IsoId=Q86VE9-4; Sequence=VSP_042310; # CCDS CCDS54874 -. [Q86VE9-4] # CCDS CCDS83009 -. [Q86VE9-2] # ChiTaRS SERINC5 human # Ensembl ENST00000507668 ENSP00000426237; ENSG00000164300. [Q86VE9-4] # Ensembl ENST00000509193 ENSP00000426134; ENSG00000164300. [Q86VE9-2] # Ensembl ENST00000512972 ENSP00000421665; ENSG00000164300. [Q86VE9-3] # ExpressionAtlas Q86VE9 baseline and differential # FUNCTION SERC5_HUMAN Restriction factor required to restrict infectivity of lentiviruses, such as HIV-1 acts by inhibiting an early step of viral infection. Impairs the penetration of the viral particle into the cytoplasm (PubMed 26416733, PubMed 26416734). Enhances the incorporation of serine into phosphatidylserine and sphingolipids. May play a role in providing serine molecules for the formation of myelin glycosphingolipids in oligodendrocytes (By similarity). {ECO 0000250|UniProtKB Q63175, ECO 0000269|PubMed 26416733, ECO 0000269|PubMed 26416734}. # GO_component GO:0005794 Golgi apparatus; IEA:Ensembl. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; IBA:GO_Central. # GO_component GO:0043209 myelin sheath; IEA:Ensembl. # GO_component GO:0048471 perinuclear region of cytoplasm; IEA:UniProtKB-SubCell. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0015194 L-serine transmembrane transporter activity; IBA:GO_Central. # GO_process GO:0006658 phosphatidylserine metabolic process; ISS:HGNC. # GO_process GO:0006665 sphingolipid metabolic process; IEA:InterPro. # GO_process GO:0008654 phospholipid biosynthetic process; IEA:UniProtKB-KW. # GO_process GO:0009597 detection of virus; IDA:UniProtKB. # GO_process GO:0042552 myelination; IEA:Ensembl. # GO_process GO:0045087 innate immune response; IDA:UniProtKB. # GO_process GO:0051607 defense response to virus; IDA:UniProtKB. # GO_process GO:1904219 positive regulation of CDP-diacylglycerol-serine O-phosphatidyltransferase activity; ISS:BHF-UCL. # GO_process GO:1904222 positive regulation of serine C-palmitoyltransferase activity; ISS:BHF-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005794 Golgi apparatus # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0002376 immune system process # GOslim_process GO:0006629 lipid metabolic process # GOslim_process GO:0006950 response to stress # GOslim_process GO:0008150 biological_process # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0044403 symbiosis, encompassing mutualism through parasitism # Genevisible Q86VE9 HS # HGNC HGNC:18825 SERINC5 # InterPro IPR005016 TDE1/TMS # InterPro IPR029555 Serinc5 # MIM 614551 gene # Organism SERC5_HUMAN Homo sapiens (Human) # PANTHER PTHR10383 PTHR10383 # PANTHER PTHR10383:SF16 PTHR10383:SF16 # Pfam PF03348 Serinc # Proteomes UP000005640 Chromosome 5 # Reactome R-HSA-977347 Serine biosynthesis # RecName Serine incorporator 5 {ECO 0000305} # RefSeq NP_001167542 NM_001174071.2. [Q86VE9-2] # RefSeq NP_001167543 NM_001174072.2. [Q86VE9-4] # RefSeq NP_840060 NM_178276.6. [Q86VE9-1] # SIMILARITY Belongs to the TDE1 family. {ECO 0000305}. # SUBCELLULAR LOCATION SERC5_HUMAN Cell membrane {ECO 0000269|PubMed 26416733, ECO 0000269|PubMed 26416734}; Multi-pass membrane protein {ECO 0000255}. # SUBCELLULAR LOCATION SERC5_HUMAN Cytoplasm, perinuclear region {ECO 0000269|PubMed 26416734, ECO 0000305|PubMed 26416733}. Note=(Microbial infection) Upon HIV-1 infection, it is redirected to perinuclear region following interaction with HIV-1 Nef, excluding it from virions particles, thereby preventing subsequent antiviral defense activity (PubMed 26416733, PubMed 26416734). Localizes to the cell membrane, where it is efficiently incorporated into budding virions and impairs subsequent virion entry into target cells (PubMed 26416733, PubMed 26416734). {ECO 0000269|PubMed 26416734, ECO 0000305|PubMed 26416733}. # TISSUE SPECIFICITY Highly expressed in placenta, skeletal muscle, spleen, thymus, testis and peripheral leukocyte and is expressed weakly in the heart, liver and fetal brain. {ECO:0000269|PubMed 12688535}. # UCSC uc011ctj human. [Q86VE9-1] # eggNOG ENOG410XP7K LUCA # eggNOG KOG2592 Eukaryota BLAST swissprot:SERC5_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SERC5_HUMAN COXPRESdb 256987 http://coxpresdb.jp/data/gene/256987.shtml CleanEx HS_SERINC5 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SERINC5 DIP DIP-47313N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-47313N DOI 10.1023/A:1022250428015 http://dx.doi.org/10.1023/A:1022250428015 DOI 10.1038/nature02919 http://dx.doi.org/10.1038/nature02919 DOI 10.1038/nature15399 http://dx.doi.org/10.1038/nature15399 DOI 10.1038/nature15400 http://dx.doi.org/10.1038/nature15400 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AC010260 http://www.ebi.ac.uk/ena/data/view/AC010260 EMBL AC012636 http://www.ebi.ac.uk/ena/data/view/AC012636 EMBL AF498273 http://www.ebi.ac.uk/ena/data/view/AF498273 EMBL AK297467 http://www.ebi.ac.uk/ena/data/view/AK297467 EMBL BC101280 http://www.ebi.ac.uk/ena/data/view/BC101280 EMBL BC101281 http://www.ebi.ac.uk/ena/data/view/BC101281 EMBL BC101283 http://www.ebi.ac.uk/ena/data/view/BC101283 EMBL CH471084 http://www.ebi.ac.uk/ena/data/view/CH471084 EMBL CH471084 http://www.ebi.ac.uk/ena/data/view/CH471084 EMBL CH471084 http://www.ebi.ac.uk/ena/data/view/CH471084 Ensembl ENST00000507668 http://www.ensembl.org/id/ENST00000507668 Ensembl ENST00000509193 http://www.ensembl.org/id/ENST00000509193 Ensembl ENST00000512972 http://www.ensembl.org/id/ENST00000512972 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0043209 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043209 GO_component GO:0048471 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048471 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0015194 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015194 GO_process GO:0006658 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006658 GO_process GO:0006665 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006665 GO_process GO:0008654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008654 GO_process GO:0009597 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009597 GO_process GO:0042552 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042552 GO_process GO:0045087 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045087 GO_process GO:0051607 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051607 GO_process GO:1904219 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1904219 GO_process GO:1904222 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1904222 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0002376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002376 GOslim_process GO:0006629 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006629 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0044403 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044403 GeneCards SERINC5 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SERINC5 GeneID 256987 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=256987 GeneTree ENSGT00550000074522 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074522 HGNC HGNC:18825 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:18825 HOGENOM HOG000165463 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000165463&db=HOGENOM6 HOVERGEN HBG025699 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG025699&db=HOVERGEN HPA HPA037898 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA037898 HPA HPA037899 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA037899 InParanoid Q86VE9 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q86VE9 IntAct Q86VE9 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q86VE9* InterPro IPR005016 http://www.ebi.ac.uk/interpro/entry/IPR005016 InterPro IPR029555 http://www.ebi.ac.uk/interpro/entry/IPR029555 Jabion 256987 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=256987 KEGG_Gene hsa:256987 http://www.genome.jp/dbget-bin/www_bget?hsa:256987 MIM 614551 http://www.ncbi.nlm.nih.gov/omim/614551 OMA CCPTREF http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=CCPTREF OrthoDB EOG091G06BW http://cegg.unige.ch/orthodb/results?searchtext=EOG091G06BW PANTHER PTHR10383 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10383 PANTHER PTHR10383:SF16 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10383:SF16 PSORT swissprot:SERC5_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SERC5_HUMAN PSORT-B swissprot:SERC5_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SERC5_HUMAN PSORT2 swissprot:SERC5_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SERC5_HUMAN Pfam PF03348 http://pfam.xfam.org/family/PF03348 PharmGKB PA38698 http://www.pharmgkb.org/do/serve?objId=PA38698&objCls=Gene Phobius swissprot:SERC5_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SERC5_HUMAN PhylomeDB Q86VE9 http://phylomedb.org/?seqid=Q86VE9 ProteinModelPortal Q86VE9 http://www.proteinmodelportal.org/query/uniprot/Q86VE9 PubMed 12688535 http://www.ncbi.nlm.nih.gov/pubmed/12688535 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15372022 http://www.ncbi.nlm.nih.gov/pubmed/15372022 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 26416733 http://www.ncbi.nlm.nih.gov/pubmed/26416733 PubMed 26416734 http://www.ncbi.nlm.nih.gov/pubmed/26416734 Reactome R-HSA-977347 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-977347 RefSeq NP_001167542 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001167542 RefSeq NP_001167543 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001167543 RefSeq NP_840060 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_840060 STRING 9606.ENSP00000420863 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000420863&targetmode=cogs UCSC uc011ctj http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc011ctj&org=rat UniGene Hs.288232 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.288232 UniProtKB SERC5_HUMAN http://www.uniprot.org/uniprot/SERC5_HUMAN UniProtKB-AC Q86VE9 http://www.uniprot.org/uniprot/Q86VE9 charge swissprot:SERC5_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SERC5_HUMAN eggNOG ENOG410XP7K http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XP7K eggNOG KOG2592 http://eggnogapi.embl.de/nog_data/html/tree/KOG2592 epestfind swissprot:SERC5_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SERC5_HUMAN garnier swissprot:SERC5_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SERC5_HUMAN helixturnhelix swissprot:SERC5_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SERC5_HUMAN hmoment swissprot:SERC5_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SERC5_HUMAN iep swissprot:SERC5_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SERC5_HUMAN inforesidue swissprot:SERC5_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SERC5_HUMAN neXtProt NX_Q86VE9 http://www.nextprot.org/db/entry/NX_Q86VE9 octanol swissprot:SERC5_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SERC5_HUMAN pepcoil swissprot:SERC5_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SERC5_HUMAN pepdigest swissprot:SERC5_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SERC5_HUMAN pepinfo swissprot:SERC5_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SERC5_HUMAN pepnet swissprot:SERC5_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SERC5_HUMAN pepstats swissprot:SERC5_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SERC5_HUMAN pepwheel swissprot:SERC5_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SERC5_HUMAN pepwindow swissprot:SERC5_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SERC5_HUMAN sigcleave swissprot:SERC5_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SERC5_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS ANO7_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; Synonyms=NGEP-L; IsoId=Q6IWH7-1; Sequence=Displayed; Name=2; Synonyms=NGEP-S; IsoId=Q6IWH7-2; Sequence=VSP_026004, VSP_026005, VSP_026006; Name=3; Synonyms=D-TMPP; IsoId=Q6IWH7-3; Sequence=VSP_026004, VSP_026007, VSP_026008; # AltName ANO7_HUMAN Dresden transmembrane protein of the prostate # AltName ANO7_HUMAN IPCA-5 # AltName ANO7_HUMAN New gene expressed in prostate # AltName ANO7_HUMAN Prostate cancer-associated protein 5 # AltName ANO7_HUMAN Transmembrane protein 16G # CAUTION It is uncertain whether Met-1 or Met-55 is the initiator. {ECO 0000305}. # CCDS CCDS33423 -. [Q6IWH7-1] # CCDS CCDS46563 -. [Q6IWH7-2] # Ensembl ENST00000274979 ENSP00000274979; ENSG00000146205. [Q6IWH7-1] # Ensembl ENST00000402430 ENSP00000385418; ENSG00000146205. [Q6IWH7-3] # Ensembl ENST00000402530 ENSP00000383985; ENSG00000146205. [Q6IWH7-2] # ExpressionAtlas Q6IWH7 baseline and differential # FUNCTION ANO7_HUMAN Has calcium-dependent phospholipid scramblase activity; scrambles phosphatidylserine, phosphatidylcholine and galactosylceramide (By similarity). Does not exhibit calcium- activated chloride channel (CaCC) activity. May play a role in cell-cell interactions. {ECO 0000250|UniProtKB Q14AT5, ECO 0000269|PubMed 17308099}. # GO_component GO:0005622 intracellular; IDA:UniProtKB. # GO_component GO:0005634 nucleus; IEA:Ensembl. # GO_component GO:0005783 endoplasmic reticulum; IDA:UniProtKB. # GO_component GO:0005829 cytosol; IEA:UniProtKB-SubCell. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0030054 cell junction; IEA:UniProtKB-SubCell. # GO_function GO:0005229 intracellular calcium activated chloride channel activity; IDA:UniProtKB. # GO_function GO:0017128 phospholipid scramblase activity; IEA:Ensembl. # GO_process GO:0006821 chloride transport; IDA:UniProtKB. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0061589 calcium activated phosphatidylserine scrambling; IEA:Ensembl. # GO_process GO:0061590 calcium activated phosphatidylcholine scrambling; IEA:Ensembl. # GO_process GO:0061591 calcium activated galactosylceramide scrambling; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005622 intracellular # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_component GO:0005829 cytosol # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007009 plasma membrane organization # GOslim_process GO:0055085 transmembrane transport # Genevisible Q6IWH7 HS # HGNC HGNC:31677 ANO7 # INDUCTION Up-regulated by androgen. {ECO:0000269|PubMed 15761874}. # InterPro IPR007632 Anoctamin # InterPro IPR031296 Anoctamin-7 # InterPro IPR032394 Anoct_dimer # MIM 605096 gene # MISCELLANEOUS ANO7_HUMAN The term 'anoctamin' was coined because these channels are anion selective and have eight (OCT) transmembrane segments. There is some dissatisfaction in the field with the Ano nomenclature because it is not certain that all the members of this family are anion channels or have the 8-transmembrane topology. # Organism ANO7_HUMAN Homo sapiens (Human) # PANTHER PTHR12308 PTHR12308 # PANTHER PTHR12308:SF22 PTHR12308:SF22 # Pfam PF04547 Anoctamin # Pfam PF16178 Anoct_dimer # Proteomes UP000005640 Chromosome 2 # Reactome R-HSA-2672351 Stimuli-sensing channels # RecName ANO7_HUMAN Anoctamin-7 # RefSeq NP_001001666 NM_001001666.3. [Q6IWH7-2] # RefSeq NP_001001891 NM_001001891.3. [Q6IWH7-1] # SIMILARITY Belongs to the anoctamin family. {ECO 0000305}. # SUBCELLULAR LOCATION ANO7_HUMAN Isoform 1 Cell membrane {ECO 0000269|PubMed 14981236, ECO 0000269|PubMed 17308099, ECO 0000269|PubMed 20056604, ECO 0000269|PubMed 22946059}; Multi- pass membrane protein {ECO 0000255}. Cell junction {ECO 0000269|PubMed 17308099}. Endoplasmic reticulum {ECO 0000269|PubMed 22075693}. Note=Concentrates at sites of cell- cell contact (PubMed 17308099). Shows an intracellular localization according to PubMed 22075693 and PubMed 20056604. {ECO 0000269|PubMed 17308099, ECO 0000269|PubMed 20056604, ECO 0000269|PubMed 22075693}. # SUBCELLULAR LOCATION ANO7_HUMAN Isoform 2 Cytoplasm, cytosol {ECO 0000269|PubMed 14981236}. # TISSUE SPECIFICITY ANO7_HUMAN Specifically expressed in epithelial cells of the prostate (at protein level). {ECO 0000269|PubMed 14981236, ECO 0000269|PubMed 15761874, ECO 0000269|PubMed 17308099}. # UCSC uc002waw human. [Q6IWH7-1] # eggNOG ENOG410XS4S LUCA # eggNOG KOG2514 Eukaryota BLAST swissprot:ANO7_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ANO7_HUMAN COXPRESdb 50636 http://coxpresdb.jp/data/gene/50636.shtml CleanEx HS_ANO7 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ANO7 DOI 10.1002/pros.20250 http://dx.doi.org/10.1002/pros.20250 DOI 10.1007/s00424-011-0975-9 http://dx.doi.org/10.1007/s00424-011-0975-9 DOI 10.1038/aps.2011.48 http://dx.doi.org/10.1038/aps.2011.48 DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1073/pnas.0308746101 http://dx.doi.org/10.1073/pnas.0308746101 DOI 10.1074/jbc.M109.065367 http://dx.doi.org/10.1074/jbc.M109.065367 DOI 10.1101/gr.9.12.1198 http://dx.doi.org/10.1101/gr.9.12.1198 DOI 10.1113/expphysiol.2011.058198 http://dx.doi.org/10.1113/expphysiol.2011.058198 DOI 10.1113/expphysiol.2011.058214 http://dx.doi.org/10.1113/expphysiol.2011.058214 DOI 10.1152/ajpcell.00140.2011 http://dx.doi.org/10.1152/ajpcell.00140.2011 DOI 10.1158/0008-5472.CAN-06-2673 http://dx.doi.org/10.1158/0008-5472.CAN-06-2673 DOI 10.1158/0008-5472.CAN-08-0870 http://dx.doi.org/10.1158/0008-5472.CAN-08-0870 DOI 10.1242/jcs.109553 http://dx.doi.org/10.1242/jcs.109553 EMBL AC005237 http://www.ebi.ac.uk/ena/data/view/AC005237 EMBL AC104841 http://www.ebi.ac.uk/ena/data/view/AC104841 EMBL AC111201 http://www.ebi.ac.uk/ena/data/view/AC111201 EMBL AY617079 http://www.ebi.ac.uk/ena/data/view/AY617079 EMBL AY617080 http://www.ebi.ac.uk/ena/data/view/AY617080 Ensembl ENST00000274979 http://www.ensembl.org/id/ENST00000274979 Ensembl ENST00000402430 http://www.ensembl.org/id/ENST00000402430 Ensembl ENST00000402530 http://www.ensembl.org/id/ENST00000402530 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005622 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005622 GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_function GO:0005229 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005229 GO_function GO:0017128 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0017128 GO_process GO:0006821 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006821 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0061589 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061589 GO_process GO:0061590 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061590 GO_process GO:0061591 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061591 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005622 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005622 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_component GO:0005783 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007009 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007009 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards ANO7 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ANO7 GeneID 50636 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=50636 GeneTree ENSGT00760000119015 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119015 HGNC HGNC:31677 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:31677 HOGENOM HOG000006509 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000006509&db=HOGENOM6 HOVERGEN HBG069519 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG069519&db=HOVERGEN HPA HPA035730 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA035730 InParanoid Q6IWH7 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q6IWH7 InterPro IPR007632 http://www.ebi.ac.uk/interpro/entry/IPR007632 InterPro IPR031296 http://www.ebi.ac.uk/interpro/entry/IPR031296 InterPro IPR032394 http://www.ebi.ac.uk/interpro/entry/IPR032394 Jabion 50636 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=50636 KEGG_Gene hsa:50636 http://www.genome.jp/dbget-bin/www_bget?hsa:50636 MIM 605096 http://www.ncbi.nlm.nih.gov/omim/605096 OMA PLCLDCP http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=PLCLDCP OrthoDB EOG091G01JF http://cegg.unige.ch/orthodb/results?searchtext=EOG091G01JF PANTHER PTHR12308 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12308 PANTHER PTHR12308:SF22 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12308:SF22 PSORT swissprot:ANO7_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ANO7_HUMAN PSORT-B swissprot:ANO7_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ANO7_HUMAN PSORT2 swissprot:ANO7_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ANO7_HUMAN Pfam PF04547 http://pfam.xfam.org/family/PF04547 Pfam PF16178 http://pfam.xfam.org/family/PF16178 PharmGKB PA32980 http://www.pharmgkb.org/do/serve?objId=PA32980&objCls=Gene Phobius swissprot:ANO7_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ANO7_HUMAN PhylomeDB Q6IWH7 http://phylomedb.org/?seqid=Q6IWH7 ProteinModelPortal Q6IWH7 http://www.proteinmodelportal.org/query/uniprot/Q6IWH7 PubMed 10613842 http://www.ncbi.nlm.nih.gov/pubmed/10613842 PubMed 14981236 http://www.ncbi.nlm.nih.gov/pubmed/14981236 PubMed 15375614 http://www.ncbi.nlm.nih.gov/pubmed/15375614 PubMed 15761874 http://www.ncbi.nlm.nih.gov/pubmed/15761874 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 PubMed 17308099 http://www.ncbi.nlm.nih.gov/pubmed/17308099 PubMed 18676855 http://www.ncbi.nlm.nih.gov/pubmed/18676855 PubMed 20056604 http://www.ncbi.nlm.nih.gov/pubmed/20056604 PubMed 21607626 http://www.ncbi.nlm.nih.gov/pubmed/21607626 PubMed 21642943 http://www.ncbi.nlm.nih.gov/pubmed/21642943 PubMed 21984732 http://www.ncbi.nlm.nih.gov/pubmed/21984732 PubMed 22075693 http://www.ncbi.nlm.nih.gov/pubmed/22075693 PubMed 22302790 http://www.ncbi.nlm.nih.gov/pubmed/22302790 PubMed 22946059 http://www.ncbi.nlm.nih.gov/pubmed/22946059 Reactome R-HSA-2672351 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2672351 RefSeq NP_001001666 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001001666 RefSeq NP_001001891 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001001891 STRING 9606.ENSP00000274979 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000274979&targetmode=cogs UCSC uc002waw http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002waw&org=rat UniGene Hs.163909 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.163909 UniProtKB ANO7_HUMAN http://www.uniprot.org/uniprot/ANO7_HUMAN UniProtKB-AC Q6IWH7 http://www.uniprot.org/uniprot/Q6IWH7 charge swissprot:ANO7_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ANO7_HUMAN eggNOG ENOG410XS4S http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XS4S eggNOG KOG2514 http://eggnogapi.embl.de/nog_data/html/tree/KOG2514 epestfind swissprot:ANO7_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ANO7_HUMAN garnier swissprot:ANO7_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ANO7_HUMAN helixturnhelix swissprot:ANO7_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ANO7_HUMAN hmoment swissprot:ANO7_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ANO7_HUMAN iep swissprot:ANO7_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ANO7_HUMAN inforesidue swissprot:ANO7_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ANO7_HUMAN neXtProt NX_Q6IWH7 http://www.nextprot.org/db/entry/NX_Q6IWH7 octanol swissprot:ANO7_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ANO7_HUMAN pepcoil swissprot:ANO7_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ANO7_HUMAN pepdigest swissprot:ANO7_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ANO7_HUMAN pepinfo swissprot:ANO7_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ANO7_HUMAN pepnet swissprot:ANO7_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ANO7_HUMAN pepstats swissprot:ANO7_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ANO7_HUMAN pepwheel swissprot:ANO7_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ANO7_HUMAN pepwindow swissprot:ANO7_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ANO7_HUMAN sigcleave swissprot:ANO7_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ANO7_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS CTNS_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O60931-1; Sequence=Displayed; Name=2; Synonyms=cystinosin-LKG; IsoId=O60931-2; Sequence=VSP_038377; # CCDS CCDS11031 -. [O60931-1] # CCDS CCDS32530 -. [O60931-2] # ChiTaRS CTNS human # DISEASE CTNS_HUMAN Cystinosis, adult, non-nephropathic type (CTNSANN) [MIM 219750] A form of cystinosis, a lysosomal storage disease due to defective transport of cystine across the lysosomal membrane. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. Cystinosis adult non-nephropathic type is characterized by ocular features and a benign course. Patients manifest mild photophobia due to conjunctival and corneal cystine crystals. {ECO 0000269|PubMed 10625078}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE CTNS_HUMAN Cystinosis, late-onset juvenile or adolescent nephropathic type (CTNSJAN) [MIM 219900] A form of cystinosis, a lysosomal storage disease due to defective transport of cystine across the lysosomal membrane. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. Late-onset juvenile or adolescent nephropathic cystinosis is an intermediated form, manifesting first at age 10 to 12 years with proteinuria due to glomerular damage rather than with the manifestations of tubular damage that occur first in infantile cystinosis. There is no excess amino aciduria and stature is normal. Photophobia, late development of pigmentary retinopathy, and chronic headaches are features. {ECO 0000269|PubMed 10444339, ECO 0000269|PubMed 12442267, ECO 0000269|PubMed 9792862}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE CTNS_HUMAN Cystinosis, nephropathic type (CTNS) [MIM 219800] A form of cystinosis, a lysosomal storage disease due to defective transport of cystine across the lysosomal membrane. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. The classical nephropathic form has onset in the first year of life and is characterized by a polyuro- polydipsic syndrome, marked height-weight growth delay, generalized impaired proximal tubular reabsorptive capacity, with severe fluid-electrolyte balance alterations, renal failure, ocular symptoms and other systemic complications. {ECO 0000269|PubMed 10482956, ECO 0000269|PubMed 10556299, ECO 0000269|PubMed 12204010, ECO 0000269|PubMed 12442267, ECO 0000269|PubMed 12825071, ECO 0000269|PubMed 19852576, ECO 0000269|PubMed 21786142, ECO 0000269|PubMed 22450360, ECO 0000269|PubMed 9792862}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DrugBank DB00138 L-Cystine # Ensembl ENST00000046640 ENSP00000046640; ENSG00000040531. [O60931-1] # Ensembl ENST00000381870 ENSP00000371294; ENSG00000040531. [O60931-2] # ExpressionAtlas O60931 baseline and differential # FUNCTION CTNS_HUMAN Cystine/H(+) symporter thought to transport cystine out of lysosomes. Plays an important role in melanin synthesis, possibly by preventing melanosome acidification and subsequent degradation of tyrosinase TYR. {ECO 0000269|PubMed 22649030}. # GO_component GO:0005764 lysosome; IDA:MGI. # GO_component GO:0005765 lysosomal membrane; IDA:UniProtKB. # GO_component GO:0005770 late endosome; IDA:UniProtKB. # GO_component GO:0005886 plasma membrane; IDA:MGI. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0042470 melanosome; IEA:UniProtKB-SubCell. # GO_component GO:0043231 intracellular membrane-bounded organelle; IDA:HPA. # GO_component GO:0045111 intermediate filament cytoskeleton; IDA:HPA. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0015184 L-cystine transmembrane transporter activity; IMP:UniProtKB. # GO_process GO:0002088 lens development in camera-type eye; IEA:Ensembl. # GO_process GO:0006520 cellular amino acid metabolic process; NAS:UniProtKB. # GO_process GO:0006749 glutathione metabolic process; IMP:UniProtKB. # GO_process GO:0006811 ion transport; TAS:Reactome. # GO_process GO:0007420 brain development; IMP:UniProtKB. # GO_process GO:0007616 long-term memory; IEA:Ensembl. # GO_process GO:0007625 grooming behavior; IEA:Ensembl. # GO_process GO:0007628 adult walking behavior; IEA:Ensembl. # GO_process GO:0008542 visual learning; IEA:Ensembl. # GO_process GO:0015811 L-cystine transport; IDA:MGI. # GO_process GO:0042438 melanin biosynthetic process; IEA:UniProtKB-KW. # GO_process GO:0046034 ATP metabolic process; IMP:UniProtKB. # GO_process GO:0050890 cognition; IMP:UniProtKB. # GO_process GO:0055085 transmembrane transport; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005764 lysosome # GOslim_component GO:0005768 endosome # GOslim_component GO:0005856 cytoskeleton # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0031410 cytoplasmic vesicle # GOslim_component GO:0043226 organelle # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006520 cellular amino acid metabolic process # GOslim_process GO:0006790 sulfur compound metabolic process # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0019748 secondary metabolic process # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0044281 small molecule metabolic process # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0050877 neurological system process # GOslim_process GO:0055085 transmembrane transport # Genevisible O60931 HS # HGNC HGNC:2518 CTNS # InterPro IPR005282 LC_transporter # InterPro IPR006603 PQ-loop_rpt # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Disease H00275 [Inherited metabolic disease; Lysosomal storage disease] Cystinosis # KEGG_Pathway ko04142 Lysosome # MIM 219750 phenotype # MIM 219800 phenotype # MIM 219900 phenotype # MIM 606272 gene # Organism CTNS_HUMAN Homo sapiens (Human) # Orphanet 213 Cystinosis # PANTHER PTHR13131 PTHR13131 # Pfam PF04193 PQ-loop; 2 # Proteomes UP000005640 Chromosome 17 # Reactome R-HSA-425393 Transport of inorganic cations/anions and amino acids/oligopeptides # Reactome R-HSA-5223345 Miscellaneous transport and binding events # RecName CTNS_HUMAN Cystinosin # RefSeq NP_001026851 NM_001031681.2. [O60931-2] # RefSeq NP_004928 NM_004937.2. [O60931-1] # SIMILARITY Belongs to the cystinosin family. {ECO 0000305}. # SIMILARITY Contains 2 PQ-loop domains. {ECO 0000305}. # SMART SM00679 CTNS; 2 # SUBCELLULAR LOCATION CTNS_HUMAN Isoform 1 Lysosome membrane {ECO 0000269|PubMed 17897319}; Multi-pass membrane protein {ECO 0000269|PubMed 17897319}. Melanosome {ECO 0000269|PubMed 22649030}. # SUBCELLULAR LOCATION CTNS_HUMAN Isoform 2 Lysosome membrane {ECO 0000269|PubMed 18337546}; Multi-pass membrane protein. Cell membrane {ECO 0000269|PubMed 18337546}; Multi-pass membrane protein. # TCDB 2.A.43.1 the lysosomal cystine transporter (lct) family # TIGRFAMs TIGR00951 2A43 # TISSUE SPECIFICITY Strongly expressed in pancreas, kidney (adult and fetal), skeletal muscle, melanocytes and keratinocytes. Expressed at lower levels in placenta and heart. Weakly expressed in lung, liver and brain (adult and fetal). Isoform 2 represents 5-20 % of CTNS transcripts, with the exception of the testis that expresses both isoforms in equal proportions. {ECO:0000269|PubMed 22649030}. # UCSC uc002fwa human. [O60931-1] # eggNOG ENOG410XQSD LUCA # eggNOG KOG3145 Eukaryota BLAST swissprot:CTNS_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CTNS_HUMAN BioCyc ZFISH:ENSG00000040531-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000040531-MONOMER COXPRESdb 1497 http://coxpresdb.jp/data/gene/1497.shtml CleanEx HS_CTNS http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CTNS DOI 10.1002/(SICI)1098-1004(199912)14:6<454::AID-HUMU2>3.0.CO http://dx.doi.org/10.1002/(SICI)1098-1004(199912)14:6<454::AID-HUMU2>3.0.CO DOI 10.1002/humu.10141 http://dx.doi.org/10.1002/humu.10141 DOI 10.1002/humu.9063 http://dx.doi.org/10.1002/humu.9063 DOI 10.1006/mgme.1998.2790 http://dx.doi.org/10.1006/mgme.1998.2790 DOI 10.1006/mgme.1999.2876 http://dx.doi.org/10.1006/mgme.1999.2876 DOI 10.1007/s00418-012-0958-8 http://dx.doi.org/10.1007/s00418-012-0958-8 DOI 10.1007/s00467-011-1942-6 http://dx.doi.org/10.1007/s00467-011-1942-6 DOI 10.1016/j.gene.2012.03.047 http://dx.doi.org/10.1016/j.gene.2012.03.047 DOI 10.1038/nature04689 http://dx.doi.org/10.1038/nature04689 DOI 10.1038/ng0498-319 http://dx.doi.org/10.1038/ng0498-319 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1038/sj.ejhg.5200349 http://dx.doi.org/10.1038/sj.ejhg.5200349 DOI 10.1038/sj.ejhg.5200993 http://dx.doi.org/10.1038/sj.ejhg.5200993 DOI 10.1086/302118 http://dx.doi.org/10.1086/302118 DOI 10.1093/hmg/8.13.2507 http://dx.doi.org/10.1093/hmg/8.13.2507 DOI 10.1096/fj.11-201376 http://dx.doi.org/10.1096/fj.11-201376 DOI 10.1101/gr.10.2.165 http://dx.doi.org/10.1101/gr.10.2.165 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1600-0854.2007.00643.x http://dx.doi.org/10.1111/j.1600-0854.2007.00643.x DOI 10.1152/ajprenal.00413.2007 http://dx.doi.org/10.1152/ajprenal.00413.2007 DOI 10.1203/00006450-200001000-00007 http://dx.doi.org/10.1203/00006450-200001000-00007 DOI 10.3109/13816810903200953 http://dx.doi.org/10.3109/13816810903200953 DrugBank DB00138 http://www.drugbank.ca/drugs/DB00138 EMBL AC027796 http://www.ebi.ac.uk/ena/data/view/AC027796 EMBL AC132942 http://www.ebi.ac.uk/ena/data/view/AC132942 EMBL AF168787 http://www.ebi.ac.uk/ena/data/view/AF168787 EMBL AH008011 http://www.ebi.ac.uk/ena/data/view/AH008011 EMBL AJ222967 http://www.ebi.ac.uk/ena/data/view/AJ222967 EMBL AK292019 http://www.ebi.ac.uk/ena/data/view/AK292019 EMBL BC032850 http://www.ebi.ac.uk/ena/data/view/BC032850 EMBL CH471108 http://www.ebi.ac.uk/ena/data/view/CH471108 EMBL CH471108 http://www.ebi.ac.uk/ena/data/view/CH471108 EMBL CH471108 http://www.ebi.ac.uk/ena/data/view/CH471108 EMBL Y15924 http://www.ebi.ac.uk/ena/data/view/Y15924 EMBL Y15925 http://www.ebi.ac.uk/ena/data/view/Y15925 EMBL Y15926 http://www.ebi.ac.uk/ena/data/view/Y15926 EMBL Y15927 http://www.ebi.ac.uk/ena/data/view/Y15927 EMBL Y15928 http://www.ebi.ac.uk/ena/data/view/Y15928 EMBL Y15929 http://www.ebi.ac.uk/ena/data/view/Y15929 EMBL Y15930 http://www.ebi.ac.uk/ena/data/view/Y15930 EMBL Y15931 http://www.ebi.ac.uk/ena/data/view/Y15931 EMBL Y15932 http://www.ebi.ac.uk/ena/data/view/Y15932 EMBL Y15933 http://www.ebi.ac.uk/ena/data/view/Y15933 Ensembl ENST00000046640 http://www.ensembl.org/id/ENST00000046640 Ensembl ENST00000381870 http://www.ensembl.org/id/ENST00000381870 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005764 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005764 GO_component GO:0005765 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005765 GO_component GO:0005770 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005770 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0042470 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042470 GO_component GO:0043231 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043231 GO_component GO:0045111 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045111 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0015184 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015184 GO_process GO:0002088 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002088 GO_process GO:0006520 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006520 GO_process GO:0006749 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006749 GO_process GO:0006811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006811 GO_process GO:0007420 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007420 GO_process GO:0007616 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007616 GO_process GO:0007625 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007625 GO_process GO:0007628 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007628 GO_process GO:0008542 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008542 GO_process GO:0015811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015811 GO_process GO:0042438 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042438 GO_process GO:0046034 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046034 GO_process GO:0050890 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050890 GO_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005764 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005764 GOslim_component GO:0005768 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005768 GOslim_component GO:0005856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005856 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0031410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006520 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006520 GOslim_process GO:0006790 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006790 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0019748 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019748 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards CTNS http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CTNS GeneID 1497 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=1497 GeneTree ENSGT00390000005338 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000005338 HGNC HGNC:2518 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:2518 HOGENOM HOG000192503 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000192503&db=HOGENOM6 HOVERGEN HBG003083 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG003083&db=HOVERGEN HPA HPA046947 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA046947 InParanoid O60931 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O60931 InterPro IPR005282 http://www.ebi.ac.uk/interpro/entry/IPR005282 InterPro IPR006603 http://www.ebi.ac.uk/interpro/entry/IPR006603 Jabion 1497 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=1497 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Disease H00275 http://www.genome.jp/dbget-bin/www_bget?H00275 KEGG_Gene hsa:1497 http://www.genome.jp/dbget-bin/www_bget?hsa:1497 KEGG_Orthology KO:K12386 http://www.genome.jp/dbget-bin/www_bget?KO:K12386 KEGG_Pathway ko04142 http://www.genome.jp/kegg-bin/show_pathway?ko04142 MIM 219750 http://www.ncbi.nlm.nih.gov/omim/219750 MIM 219800 http://www.ncbi.nlm.nih.gov/omim/219800 MIM 219900 http://www.ncbi.nlm.nih.gov/omim/219900 MIM 606272 http://www.ncbi.nlm.nih.gov/omim/606272 OMA FFIQHFC http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=FFIQHFC Orphanet 213 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=213 OrthoDB EOG091G0BG6 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0BG6 PANTHER PTHR13131 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR13131 PSORT swissprot:CTNS_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CTNS_HUMAN PSORT-B swissprot:CTNS_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CTNS_HUMAN PSORT2 swissprot:CTNS_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CTNS_HUMAN Pfam PF04193 http://pfam.xfam.org/family/PF04193 PharmGKB PA27019 http://www.pharmgkb.org/do/serve?objId=PA27019&objCls=Gene Phobius swissprot:CTNS_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CTNS_HUMAN PhylomeDB O60931 http://phylomedb.org/?seqid=O60931 ProteinModelPortal O60931 http://www.proteinmodelportal.org/query/uniprot/O60931 PubMed 10068513 http://www.ncbi.nlm.nih.gov/pubmed/10068513 PubMed 10444339 http://www.ncbi.nlm.nih.gov/pubmed/10444339 PubMed 10482956 http://www.ncbi.nlm.nih.gov/pubmed/10482956 PubMed 10556299 http://www.ncbi.nlm.nih.gov/pubmed/10556299 PubMed 10571941 http://www.ncbi.nlm.nih.gov/pubmed/10571941 PubMed 10625078 http://www.ncbi.nlm.nih.gov/pubmed/10625078 PubMed 10673275 http://www.ncbi.nlm.nih.gov/pubmed/10673275 PubMed 12204010 http://www.ncbi.nlm.nih.gov/pubmed/12204010 PubMed 12442267 http://www.ncbi.nlm.nih.gov/pubmed/12442267 PubMed 12825071 http://www.ncbi.nlm.nih.gov/pubmed/12825071 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16625196 http://www.ncbi.nlm.nih.gov/pubmed/16625196 PubMed 17897319 http://www.ncbi.nlm.nih.gov/pubmed/17897319 PubMed 18337546 http://www.ncbi.nlm.nih.gov/pubmed/18337546 PubMed 19852576 http://www.ncbi.nlm.nih.gov/pubmed/19852576 PubMed 21786142 http://www.ncbi.nlm.nih.gov/pubmed/21786142 PubMed 22450360 http://www.ncbi.nlm.nih.gov/pubmed/22450360 PubMed 22544350 http://www.ncbi.nlm.nih.gov/pubmed/22544350 PubMed 22649030 http://www.ncbi.nlm.nih.gov/pubmed/22649030 PubMed 9537412 http://www.ncbi.nlm.nih.gov/pubmed/9537412 PubMed 9792862 http://www.ncbi.nlm.nih.gov/pubmed/9792862 Reactome R-HSA-425393 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-425393 Reactome R-HSA-5223345 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5223345 RefSeq NP_001026851 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001026851 RefSeq NP_004928 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004928 SMART SM00679 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00679 STRING 9606.ENSP00000371294 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000371294&targetmode=cogs TCDB 2.A.43.1 http://www.tcdb.org/search/result.php?tc=2.A.43.1 TIGRFAMs TIGR00951 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00951 UCSC uc002fwa http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002fwa&org=rat UniGene Hs.187667 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.187667 UniProtKB CTNS_HUMAN http://www.uniprot.org/uniprot/CTNS_HUMAN UniProtKB-AC O60931 http://www.uniprot.org/uniprot/O60931 charge swissprot:CTNS_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CTNS_HUMAN eggNOG ENOG410XQSD http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XQSD eggNOG KOG3145 http://eggnogapi.embl.de/nog_data/html/tree/KOG3145 epestfind swissprot:CTNS_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CTNS_HUMAN garnier swissprot:CTNS_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CTNS_HUMAN helixturnhelix swissprot:CTNS_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CTNS_HUMAN hmoment swissprot:CTNS_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CTNS_HUMAN iep swissprot:CTNS_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CTNS_HUMAN inforesidue swissprot:CTNS_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CTNS_HUMAN neXtProt NX_O60931 http://www.nextprot.org/db/entry/NX_O60931 octanol swissprot:CTNS_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CTNS_HUMAN pepcoil swissprot:CTNS_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CTNS_HUMAN pepdigest swissprot:CTNS_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CTNS_HUMAN pepinfo swissprot:CTNS_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CTNS_HUMAN pepnet swissprot:CTNS_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CTNS_HUMAN pepstats swissprot:CTNS_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CTNS_HUMAN pepwheel swissprot:CTNS_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CTNS_HUMAN pepwindow swissprot:CTNS_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CTNS_HUMAN sigcleave swissprot:CTNS_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CTNS_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS GBRB3_HUMAN Event=Alternative splicing; Named isoforms=4; Comment=Isoforms differ in their signal region.; Name=1; IsoId=P28472-1; Sequence=Displayed; Name=2; IsoId=P28472-2; Sequence=VSP_000088; Note=Variant in position 11 P->S (in ECA5, the mutant protein is hyperglycosylated and has reduced mean current densities compared to wild-type, dbSNP rs25409). Variant in position 15 S->F (in ECA5, the mutant protein is hyperglycosylated and has reduced mean current densities compared to wild-type). {ECO 0000269|PubMed 18514161}; Name=3; IsoId=P28472-3; Sequence=VSP_046126; Note=No experimental confirmation available.; Name=4; IsoId=P28472-4; Sequence=VSP_046676; # AltName GBRB3_HUMAN GABA(A) receptor subunit beta-3 # BioGrid 108836 9 # CCDS CCDS10018 -. [P28472-2] # CCDS CCDS10019 -. [P28472-1] # CCDS CCDS53920 -. [P28472-4] # CCDS CCDS53921 -. [P28472-3] # ChiTaRS GABRB3 human # DISEASE GBRB3_HUMAN Epilepsy, childhood absence 5 (ECA5) [MIM 612269] A subtype of idiopathic generalized epilepsy characterized by an onset at age 6-7 years, frequent absence seizures (several per day) and bilateral, synchronous, symmetric 3-Hz spike waves on EEG. Tonic-clonic seizures often develop in adolescence. Absence seizures may either remit or persist into adulthood. {ECO 0000269|PubMed 18514161}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. # DrugBank DB00186 Lorazepam # DrugBank DB00189 Ethchlorvynol # DrugBank DB00228 Enflurane # DrugBank DB00231 Temazepam # DrugBank DB00237 Butabarbital # DrugBank DB00241 Butalbital # DrugBank DB00273 Topiramate # DrugBank DB00292 Etomidate # DrugBank DB00306 Talbutal # DrugBank DB00312 Pentobarbital # DrugBank DB00334 Olanzapine # DrugBank DB00349 Clobazam # DrugBank DB00371 Meprobamate # DrugBank DB00402 Eszopiclone # DrugBank DB00404 Alprazolam # DrugBank DB00475 Chlordiazepoxide # DrugBank DB00543 Amoxapine # DrugBank DB00546 Adinazolam # DrugBank DB00592 Piperazine # DrugBank DB00602 Ivermectin # DrugBank DB00628 Clorazepate # DrugBank DB00659 Acamprosate # DrugBank DB00683 Midazolam # DrugBank DB00690 Flurazepam # DrugBank DB00753 Isoflurane # DrugBank DB00794 Primidone # DrugBank DB00801 Halazepam # DrugBank DB00818 Propofol # DrugBank DB00829 Diazepam # DrugBank DB00842 Oxazepam # DrugBank DB00897 Triazolam # DrugBank DB00898 Ethanol # DrugBank DB01028 Methoxyflurane # DrugBank DB01049 Ergoloid mesylate # DrugBank DB01068 Clonazepam # DrugBank DB01107 Methyprylon # DrugBank DB01159 Halothane # DrugBank DB01189 Desflurane # DrugBank DB01205 Flumazenil # DrugBank DB01215 Estazolam # DrugBank DB01236 Sevoflurane # DrugBank DB01437 Glutethimide # DrugBank DB01558 Bromazepam # DrugBank DB01559 Clotiazepam # DrugBank DB01567 Fludiazepam # DrugBank DB01588 Prazepam # DrugBank DB01589 Quazepam # DrugBank DB01594 Cinolazepam # DrugBank DB01595 Nitrazepam # DrugBank DB06716 Fospropofol # Ensembl ENST00000299267 ENSP00000299267; ENSG00000166206. [P28472-2] # Ensembl ENST00000311550 ENSP00000308725; ENSG00000166206. [P28472-1] # Ensembl ENST00000400188 ENSP00000383049; ENSG00000166206. [P28472-3] # Ensembl ENST00000545868 ENSP00000439169; ENSG00000166206. [P28472-4] # Ensembl ENST00000622697 ENSP00000481004; ENSG00000166206. [P28472-4] # Ensembl ENST00000628124 ENSP00000486819; ENSG00000166206. [P28472-4] # Ensembl ENST00000636466 ENSP00000489768; ENSG00000166206. [P28472-4] # ExpressionAtlas P28472 baseline and differential # FUNCTION GBRB3_HUMAN Component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the vertebrate brain. Functions also as histamine receptor and mediates cellular responses to histamine. Functions as receptor for diazepines and various anesthetics, such as pentobarbital; these are bound at a separate allosteric effector binding site. Functions as ligand- gated chloride channel. {ECO 0000269|PubMed 18281286, ECO 0000269|PubMed 18514161, ECO 0000269|PubMed 22243422, ECO 0000269|PubMed 22303015, ECO 0000269|PubMed 24909990}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IMP:UniProtKB. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0034707 chloride channel complex; IEA:UniProtKB-KW. # GO_component GO:0045211 postsynaptic membrane; IEA:UniProtKB-SubCell. # GO_component GO:1902711 GABA-A receptor complex; IMP:UniProtKB. # GO_function GO:0004890 GABA-A receptor activity; IMP:UniProtKB. # GO_function GO:0022851 GABA-gated chloride ion channel activity; IMP:UniProtKB. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0007165 signal transduction; TAS:ProtInc. # GO_process GO:0007605 sensory perception of sound; IEA:Ensembl. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0043524 negative regulation of neuron apoptotic process; IEA:Ensembl. # GO_process GO:0060021 palate development; ISS:UniProtKB. # GO_process GO:0060080 inhibitory postsynaptic potential; IEA:Ensembl. # GO_process GO:0060119 inner ear receptor cell development; IEA:Ensembl. # GO_process GO:0060384 innervation; IEA:Ensembl. # GO_process GO:0071420 cellular response to histamine; IDA:UniProtKB. # GO_process GO:0090102 cochlea development; IEA:Ensembl. # GO_process GO:1902476 chloride transmembrane transport; IMP:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0050877 neurological system process # GOslim_process GO:0055085 transmembrane transport # Gene3D 2.70.170.10 -; 1. # Genevisible P28472 HS # HGNC HGNC:4083 GABRB3 # InterPro IPR002289 GABAAb_rcpt # InterPro IPR006028 GABAA/Glycine_rcpt # InterPro IPR006029 Neurotrans-gated_channel_TM # InterPro IPR006201 Neur_channel # InterPro IPR006202 Neur_chan_lig-bd # InterPro IPR018000 Neurotransmitter_ion_chnl_CS # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04080 Neuroactive ligand-receptor interaction # KEGG_Pathway ko04723 Retrograde endocannabinoid signaling # KEGG_Pathway ko04726 Serotonergic synapse # KEGG_Pathway ko04727 GABAergic synapse # KEGG_Pathway ko05032 Morphine addiction # KEGG_Pathway ko05033 Nicotine addiction # MIM 137192 gene+phenotype # MIM 612269 phenotype # Organism GBRB3_HUMAN Homo sapiens (Human) # Orphanet 106 Autism # Orphanet 64280 Childhood absence epilepsy # PANTHER PTHR18945 PTHR18945; 2 # PDB 4COF X-ray; 2.97 A; A/B/C/D/E=26-332, A/B/C/D/E=447-473 # PIR A55275 A55275 # PIR B45468 B45468 # POLYMORPHISM GABRB3 variants may be associated with insomnia, a condition of inability to initiate or maintain sleep [MIM 137192]. # PRINTS PR00252 NRIONCHANNEL # PRINTS PR00253 GABAARECEPTR # PRINTS PR01160 GABAARBETA # PROSITE PS00236 NEUROTR_ION_CHANNEL # Pfam PF02931 Neur_chan_LBD # Pfam PF02932 Neur_chan_memb # Proteomes UP000005640 Chromosome 15 # Reactome R-HSA-112314 Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell # Reactome R-HSA-975298 Ligand-gated ion channel transport # Reactome R-HSA-977441 GABA A receptor activation # RecName GBRB3_HUMAN Gamma-aminobutyric acid receptor subunit beta-3 # RefSeq NP_000805 NM_000814.5. [P28472-1] # RefSeq NP_001178249 NM_001191320.1. [P28472-4] # RefSeq NP_001178250 NM_001191321.2. [P28472-3] # RefSeq NP_001265560 NM_001278631.1. [P28472-4] # RefSeq NP_068712 NM_021912.4. [P28472-2] # SIMILARITY Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRB3 sub-subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION GBRB3_HUMAN Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane {ECO 0000269|PubMed 18281286, ECO 0000269|PubMed 18514161, ECO 0000269|PubMed 22243422, ECO 0000269|PubMed 22303015, ECO 0000269|PubMed 24909990}; Multi-pass membrane protein {ECO 0000255}. Cytoplasmic vesicle membrane {ECO 0000250|UniProtKB P63079}. # SUBUNIT GBRB3_HUMAN Heteropentamer, formed by a combination of alpha, beta, gamma, delta and rho chains (PubMed 22243422, PubMed 18281286, PubMed 18514161, PubMed 24909990). Can form functional homopentamers (in vitro) (PubMed 22303015). Interacts with UBQLN1 (By similarity). May interact with KIF21B (By similarity). {ECO 0000250|UniProtKB P63079, ECO 0000269|PubMed 18281286, ECO 0000269|PubMed 18514161, ECO 0000269|PubMed 22243422, ECO 0000269|PubMed 22303015, ECO 0000269|PubMed 24909990}. # SUPFAM SSF63712 SSF63712 # SUPFAM SSF90112 SSF90112 # TCDB 1.A.9.5 the neurotransmitter receptor, cys loop, ligand-gated ion channel (lic) family # TIGRFAMs TIGR00860 LIC # UCSC uc001zaz human. [P28472-1] # WEB RESOURCE GBRB3_HUMAN Name=Protein Spotlight; Note=Forbidden fruit - Issue 56 of March 2005; URL="http //web.expasy.org/spotlight/back_issues/056"; # eggNOG ENOG410XPWH LUCA # eggNOG KOG3643 Eukaryota BLAST swissprot:GBRB3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:GBRB3_HUMAN COXPRESdb 2562 http://coxpresdb.jp/data/gene/2562.shtml CleanEx HS_GABRB3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_GABRB3 DIP DIP-61029N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-61029N DOI 10.1007/s00439-002-0766-7 http://dx.doi.org/10.1007/s00439-002-0766-7 DOI 10.1016/0888-7543(91)90034-C http://dx.doi.org/10.1016/0888-7543(91)90034-C DOI 10.1016/j.ajhg.2008.04.020 http://dx.doi.org/10.1016/j.ajhg.2008.04.020 DOI 10.1021/bi201772m http://dx.doi.org/10.1021/bi201772m DOI 10.1038/nature04601 http://dx.doi.org/10.1038/nature04601 DOI 10.1038/nature13293 http://dx.doi.org/10.1038/nature13293 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.M111.332528 http://dx.doi.org/10.1074/jbc.M111.332528 DOI 10.1074/jbc.M709993200 http://dx.doi.org/10.1074/jbc.M709993200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DrugBank DB00186 http://www.drugbank.ca/drugs/DB00186 DrugBank DB00189 http://www.drugbank.ca/drugs/DB00189 DrugBank DB00228 http://www.drugbank.ca/drugs/DB00228 DrugBank DB00231 http://www.drugbank.ca/drugs/DB00231 DrugBank DB00237 http://www.drugbank.ca/drugs/DB00237 DrugBank DB00241 http://www.drugbank.ca/drugs/DB00241 DrugBank DB00273 http://www.drugbank.ca/drugs/DB00273 DrugBank DB00292 http://www.drugbank.ca/drugs/DB00292 DrugBank DB00306 http://www.drugbank.ca/drugs/DB00306 DrugBank DB00312 http://www.drugbank.ca/drugs/DB00312 DrugBank DB00334 http://www.drugbank.ca/drugs/DB00334 DrugBank DB00349 http://www.drugbank.ca/drugs/DB00349 DrugBank DB00371 http://www.drugbank.ca/drugs/DB00371 DrugBank DB00402 http://www.drugbank.ca/drugs/DB00402 DrugBank DB00404 http://www.drugbank.ca/drugs/DB00404 DrugBank DB00475 http://www.drugbank.ca/drugs/DB00475 DrugBank DB00543 http://www.drugbank.ca/drugs/DB00543 DrugBank DB00546 http://www.drugbank.ca/drugs/DB00546 DrugBank DB00592 http://www.drugbank.ca/drugs/DB00592 DrugBank DB00602 http://www.drugbank.ca/drugs/DB00602 DrugBank DB00628 http://www.drugbank.ca/drugs/DB00628 DrugBank DB00659 http://www.drugbank.ca/drugs/DB00659 DrugBank DB00683 http://www.drugbank.ca/drugs/DB00683 DrugBank DB00690 http://www.drugbank.ca/drugs/DB00690 DrugBank DB00753 http://www.drugbank.ca/drugs/DB00753 DrugBank DB00794 http://www.drugbank.ca/drugs/DB00794 DrugBank DB00801 http://www.drugbank.ca/drugs/DB00801 DrugBank DB00818 http://www.drugbank.ca/drugs/DB00818 DrugBank DB00829 http://www.drugbank.ca/drugs/DB00829 DrugBank DB00842 http://www.drugbank.ca/drugs/DB00842 DrugBank DB00897 http://www.drugbank.ca/drugs/DB00897 DrugBank DB00898 http://www.drugbank.ca/drugs/DB00898 DrugBank DB01028 http://www.drugbank.ca/drugs/DB01028 DrugBank DB01049 http://www.drugbank.ca/drugs/DB01049 DrugBank DB01068 http://www.drugbank.ca/drugs/DB01068 DrugBank DB01107 http://www.drugbank.ca/drugs/DB01107 DrugBank DB01159 http://www.drugbank.ca/drugs/DB01159 DrugBank DB01189 http://www.drugbank.ca/drugs/DB01189 DrugBank DB01205 http://www.drugbank.ca/drugs/DB01205 DrugBank DB01215 http://www.drugbank.ca/drugs/DB01215 DrugBank DB01236 http://www.drugbank.ca/drugs/DB01236 DrugBank DB01437 http://www.drugbank.ca/drugs/DB01437 DrugBank DB01558 http://www.drugbank.ca/drugs/DB01558 DrugBank DB01559 http://www.drugbank.ca/drugs/DB01559 DrugBank DB01567 http://www.drugbank.ca/drugs/DB01567 DrugBank DB01588 http://www.drugbank.ca/drugs/DB01588 DrugBank DB01589 http://www.drugbank.ca/drugs/DB01589 DrugBank DB01594 http://www.drugbank.ca/drugs/DB01594 DrugBank DB01595 http://www.drugbank.ca/drugs/DB01595 DrugBank DB06716 http://www.drugbank.ca/drugs/DB06716 EMBL AC009878 http://www.ebi.ac.uk/ena/data/view/AC009878 EMBL AC011196 http://www.ebi.ac.uk/ena/data/view/AC011196 EMBL AC104569 http://www.ebi.ac.uk/ena/data/view/AC104569 EMBL AC127511 http://www.ebi.ac.uk/ena/data/view/AC127511 EMBL AC135999 http://www.ebi.ac.uk/ena/data/view/AC135999 EMBL AC145167 http://www.ebi.ac.uk/ena/data/view/AC145167 EMBL AC145196 http://www.ebi.ac.uk/ena/data/view/AC145196 EMBL AK295167 http://www.ebi.ac.uk/ena/data/view/AK295167 EMBL AK302822 http://www.ebi.ac.uk/ena/data/view/AK302822 EMBL BC010641 http://www.ebi.ac.uk/ena/data/view/BC010641 EMBL CH471151 http://www.ebi.ac.uk/ena/data/view/CH471151 EMBL EU606048 http://www.ebi.ac.uk/ena/data/view/EU606048 EMBL L04311 http://www.ebi.ac.uk/ena/data/view/L04311 EMBL L04311 http://www.ebi.ac.uk/ena/data/view/L04311 EMBL M82919 http://www.ebi.ac.uk/ena/data/view/M82919 Ensembl ENST00000299267 http://www.ensembl.org/id/ENST00000299267 Ensembl ENST00000311550 http://www.ensembl.org/id/ENST00000311550 Ensembl ENST00000400188 http://www.ensembl.org/id/ENST00000400188 Ensembl ENST00000545868 http://www.ensembl.org/id/ENST00000545868 Ensembl ENST00000622697 http://www.ensembl.org/id/ENST00000622697 Ensembl ENST00000628124 http://www.ensembl.org/id/ENST00000628124 Ensembl ENST00000636466 http://www.ensembl.org/id/ENST00000636466 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0034707 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034707 GO_component GO:0045211 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045211 GO_component GO:1902711 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902711 GO_function GO:0004890 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004890 GO_function GO:0022851 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022851 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GO_process GO:0007605 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007605 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0043524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043524 GO_process GO:0060021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060021 GO_process GO:0060080 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060080 GO_process GO:0060119 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060119 GO_process GO:0060384 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060384 GO_process GO:0071420 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071420 GO_process GO:0090102 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090102 GO_process GO:1902476 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902476 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 2.70.170.10 http://www.cathdb.info/version/latest/superfamily/2.70.170.10 GeneCards GABRB3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=GABRB3 GeneID 2562 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=2562 GeneTree ENSGT00760000118821 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118821 HGNC HGNC:4083 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:4083 HOVERGEN HBG051707 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG051707&db=HOVERGEN HPA CAB002159 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB002159 InParanoid P28472 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P28472 IntAct P28472 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P28472* InterPro IPR002289 http://www.ebi.ac.uk/interpro/entry/IPR002289 InterPro IPR006028 http://www.ebi.ac.uk/interpro/entry/IPR006028 InterPro IPR006029 http://www.ebi.ac.uk/interpro/entry/IPR006029 InterPro IPR006201 http://www.ebi.ac.uk/interpro/entry/IPR006201 InterPro IPR006202 http://www.ebi.ac.uk/interpro/entry/IPR006202 InterPro IPR018000 http://www.ebi.ac.uk/interpro/entry/IPR018000 Jabion 2562 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=2562 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:2562 http://www.genome.jp/dbget-bin/www_bget?hsa:2562 KEGG_Orthology KO:K05181 http://www.genome.jp/dbget-bin/www_bget?KO:K05181 KEGG_Pathway ko04080 http://www.genome.jp/kegg-bin/show_pathway?ko04080 KEGG_Pathway ko04723 http://www.genome.jp/kegg-bin/show_pathway?ko04723 KEGG_Pathway ko04726 http://www.genome.jp/kegg-bin/show_pathway?ko04726 KEGG_Pathway ko04727 http://www.genome.jp/kegg-bin/show_pathway?ko04727 KEGG_Pathway ko05032 http://www.genome.jp/kegg-bin/show_pathway?ko05032 KEGG_Pathway ko05033 http://www.genome.jp/kegg-bin/show_pathway?ko05033 MIM 137192 http://www.ncbi.nlm.nih.gov/omim/137192 MIM 612269 http://www.ncbi.nlm.nih.gov/omim/612269 Orphanet 106 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=106 Orphanet 64280 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=64280 PANTHER PTHR18945 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR18945 PDB 4COF http://www.ebi.ac.uk/pdbe-srv/view/entry/4COF PDBsum 4COF http://www.ebi.ac.uk/pdbsum/4COF PRINTS PR00252 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00252 PRINTS PR00253 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00253 PRINTS PR01160 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01160 PROSITE PS00236 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00236 PSORT swissprot:GBRB3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:GBRB3_HUMAN PSORT-B swissprot:GBRB3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:GBRB3_HUMAN PSORT2 swissprot:GBRB3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:GBRB3_HUMAN Pfam PF02931 http://pfam.xfam.org/family/PF02931 Pfam PF02932 http://pfam.xfam.org/family/PF02932 PharmGKB PA28497 http://www.pharmgkb.org/do/serve?objId=PA28497&objCls=Gene Phobius swissprot:GBRB3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:GBRB3_HUMAN PhylomeDB P28472 http://phylomedb.org/?seqid=P28472 ProteinModelPortal P28472 http://www.proteinmodelportal.org/query/uniprot/P28472 PubMed 12189488 http://www.ncbi.nlm.nih.gov/pubmed/12189488 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16572171 http://www.ncbi.nlm.nih.gov/pubmed/16572171 PubMed 1664410 http://www.ncbi.nlm.nih.gov/pubmed/1664410 PubMed 1714232 http://www.ncbi.nlm.nih.gov/pubmed/1714232 PubMed 18281286 http://www.ncbi.nlm.nih.gov/pubmed/18281286 PubMed 18514161 http://www.ncbi.nlm.nih.gov/pubmed/18514161 PubMed 22243422 http://www.ncbi.nlm.nih.gov/pubmed/22243422 PubMed 22303015 http://www.ncbi.nlm.nih.gov/pubmed/22303015 PubMed 24909990 http://www.ncbi.nlm.nih.gov/pubmed/24909990 PubMed 8382702 http://www.ncbi.nlm.nih.gov/pubmed/8382702 Reactome R-HSA-112314 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-112314 Reactome R-HSA-975298 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-975298 Reactome R-HSA-977441 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-977441 RefSeq NP_000805 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000805 RefSeq NP_001178249 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001178249 RefSeq NP_001178250 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001178250 RefSeq NP_001265560 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001265560 RefSeq NP_068712 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_068712 SMR P28472 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P28472 STRING 9606.ENSP00000299267 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000299267&targetmode=cogs SUPFAM SSF63712 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF63712 SUPFAM SSF90112 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF90112 TCDB 1.A.9.5 http://www.tcdb.org/search/result.php?tc=1.A.9.5 TIGRFAMs TIGR00860 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00860 UCSC uc001zaz http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001zaz&org=rat UniGene Hs.302352 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.302352 UniGene Hs.727263 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.727263 UniProtKB GBRB3_HUMAN http://www.uniprot.org/uniprot/GBRB3_HUMAN UniProtKB-AC P28472 http://www.uniprot.org/uniprot/P28472 charge swissprot:GBRB3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:GBRB3_HUMAN eggNOG ENOG410XPWH http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XPWH eggNOG KOG3643 http://eggnogapi.embl.de/nog_data/html/tree/KOG3643 epestfind swissprot:GBRB3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:GBRB3_HUMAN garnier swissprot:GBRB3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:GBRB3_HUMAN helixturnhelix swissprot:GBRB3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:GBRB3_HUMAN hmoment swissprot:GBRB3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:GBRB3_HUMAN iep swissprot:GBRB3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:GBRB3_HUMAN inforesidue swissprot:GBRB3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:GBRB3_HUMAN neXtProt NX_P28472 http://www.nextprot.org/db/entry/NX_P28472 octanol swissprot:GBRB3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:GBRB3_HUMAN pepcoil swissprot:GBRB3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:GBRB3_HUMAN pepdigest swissprot:GBRB3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:GBRB3_HUMAN pepinfo swissprot:GBRB3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:GBRB3_HUMAN pepnet swissprot:GBRB3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:GBRB3_HUMAN pepstats swissprot:GBRB3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:GBRB3_HUMAN pepwheel swissprot:GBRB3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:GBRB3_HUMAN pepwindow swissprot:GBRB3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:GBRB3_HUMAN sigcleave swissprot:GBRB3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:GBRB3_HUMAN ## Database ID URL or Descriptions # AltName GRIK4_HUMAN Excitatory amino acid receptor 1 # AltName GRIK4_HUMAN Glutamate receptor KA-1 # BioGrid 109157 2 # ChiTaRS GRIK4 human # Ensembl ENST00000438375 ENSP00000404063; ENSG00000149403 # Ensembl ENST00000527524 ENSP00000435648; ENSG00000149403 # FUNCTION GRIK4_HUMAN Receptor for glutamate. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. The postsynaptic actions of Glu are mediated by a variety of receptors that are named according to their selective agonists. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0032983 kainate selective glutamate receptor complex; IEA:Ensembl. # GO_component GO:0042734 presynaptic membrane; IEA:Ensembl. # GO_component GO:0045211 postsynaptic membrane; IEA:UniProtKB-SubCell. # GO_function GO:0005234 extracellular-glutamate-gated ion channel activity; IEA:InterPro. # GO_function GO:0015276 ligand-gated ion channel activity; TAS:Reactome. # GO_function GO:0015277 kainate selective glutamate receptor activity; TAS:ProtInc. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0007215 glutamate receptor signaling pathway; TAS:ProtInc. # GO_process GO:0007268 chemical synaptic transmission; TAS:ProtInc. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0007267 cell-cell signaling # Genevisible Q16099 HS # HGNC HGNC:4582 GRIK4 # InterPro IPR001320 Iontro_rcpt # InterPro IPR001508 Iono_rcpt_met # InterPro IPR001828 ANF_lig-bd_rcpt # InterPro IPR019594 Glu/Gly-bd # InterPro IPR028082 Peripla_BP_I # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04080 Neuroactive ligand-receptor interaction # KEGG_Pathway ko04724 Glutamatergic synapse # MIM 600282 gene # Organism GRIK4_HUMAN Homo sapiens (Human) # PIR JH0826 JH0826 # PRINTS PR00177 NMDARECEPTOR # Pfam PF00060 Lig_chan # Pfam PF01094 ANF_receptor # Pfam PF10613 Lig_chan-Glu_bd # Proteomes UP000005640 Chromosome 11 # Reactome R-HSA-451308 Activation of Ca-permeable Kainate Receptor # RecName GRIK4_HUMAN Glutamate receptor ionotropic, kainate 4 # RefSeq NP_001269399 NM_001282470.2 # RefSeq NP_055434 NM_014619.4 # SIMILARITY Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. GRIK4 subfamily. {ECO 0000305}. # SMART SM00079 PBPe # SMART SM00918 Lig_chan-Glu_bd # SUBCELLULAR LOCATION GRIK4_HUMAN Cell membrane; Multi-pass membrane protein. Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. # SUBUNIT GRIK4_HUMAN Forms a heteromeric channel with GRIK1 or GRIK3. # SUPFAM SSF53822 SSF53822 # TCDB 1.A.10.1 the glutamate-gated ion channel (gic) family of neurotransmitter receptors # UCSC uc001pxn human # eggNOG ENOG410KDI6 Eukaryota # eggNOG ENOG4110PNJ LUCA BLAST swissprot:GRIK4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:GRIK4_HUMAN BioCyc ZFISH:ENSG00000149403-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000149403-MONOMER COXPRESdb 2900 http://coxpresdb.jp/data/gene/2900.shtml CleanEx HS_GRIK4 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_GRIK4 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 EMBL AK292726 http://www.ebi.ac.uk/ena/data/view/AK292726 EMBL CH471065 http://www.ebi.ac.uk/ena/data/view/CH471065 EMBL S67803 http://www.ebi.ac.uk/ena/data/view/S67803 Ensembl ENST00000438375 http://www.ensembl.org/id/ENST00000438375 Ensembl ENST00000527524 http://www.ensembl.org/id/ENST00000527524 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0032983 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032983 GO_component GO:0042734 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042734 GO_component GO:0045211 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045211 GO_function GO:0005234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005234 GO_function GO:0015276 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015276 GO_function GO:0015277 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015277 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0007215 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007215 GO_process GO:0007268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007268 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GeneCards GRIK4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=GRIK4 GeneID 2900 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=2900 GeneTree ENSGT00760000118920 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118920 H-InvDB HIX0036043 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0036043 HGNC HGNC:4582 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:4582 HOGENOM HOG000234371 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000234371&db=HOGENOM6 HOVERGEN HBG051839 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG051839&db=HOVERGEN InParanoid Q16099 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q16099 InterPro IPR001320 http://www.ebi.ac.uk/interpro/entry/IPR001320 InterPro IPR001508 http://www.ebi.ac.uk/interpro/entry/IPR001508 InterPro IPR001828 http://www.ebi.ac.uk/interpro/entry/IPR001828 InterPro IPR019594 http://www.ebi.ac.uk/interpro/entry/IPR019594 InterPro IPR028082 http://www.ebi.ac.uk/interpro/entry/IPR028082 Jabion 2900 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=2900 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:2900 http://www.genome.jp/dbget-bin/www_bget?hsa:2900 KEGG_Orthology KO:K05204 http://www.genome.jp/dbget-bin/www_bget?KO:K05204 KEGG_Pathway ko04080 http://www.genome.jp/kegg-bin/show_pathway?ko04080 KEGG_Pathway ko04724 http://www.genome.jp/kegg-bin/show_pathway?ko04724 MIM 600282 http://www.ncbi.nlm.nih.gov/omim/600282 OMA PAXVELE http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=PAXVELE OrthoDB EOG091G02LN http://cegg.unige.ch/orthodb/results?searchtext=EOG091G02LN PRINTS PR00177 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00177 PSORT swissprot:GRIK4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:GRIK4_HUMAN PSORT-B swissprot:GRIK4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:GRIK4_HUMAN PSORT2 swissprot:GRIK4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:GRIK4_HUMAN Pfam PF00060 http://pfam.xfam.org/family/PF00060 Pfam PF01094 http://pfam.xfam.org/family/PF01094 Pfam PF10613 http://pfam.xfam.org/family/PF10613 PharmGKB PA28976 http://www.pharmgkb.org/do/serve?objId=PA28976&objCls=Gene Phobius swissprot:GRIK4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:GRIK4_HUMAN PhylomeDB Q16099 http://phylomedb.org/?seqid=Q16099 ProteinModelPortal Q16099 http://www.proteinmodelportal.org/query/uniprot/Q16099 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 8263508 http://www.ncbi.nlm.nih.gov/pubmed/8263508 Reactome R-HSA-451308 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-451308 RefSeq NP_001269399 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001269399 RefSeq NP_055434 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_055434 SMART SM00079 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00079 SMART SM00918 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00918 SMR Q16099 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q16099 STRING 9606.ENSP00000404063 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000404063&targetmode=cogs SUPFAM SSF53822 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF53822 TCDB 1.A.10.1 http://www.tcdb.org/search/result.php?tc=1.A.10.1 UCSC uc001pxn http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001pxn&org=rat UniGene Hs.538738 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.538738 UniGene Hs.568901 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.568901 UniProtKB GRIK4_HUMAN http://www.uniprot.org/uniprot/GRIK4_HUMAN UniProtKB-AC Q16099 http://www.uniprot.org/uniprot/Q16099 charge swissprot:GRIK4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:GRIK4_HUMAN eggNOG ENOG410KDI6 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410KDI6 eggNOG ENOG4110PNJ http://eggnogapi.embl.de/nog_data/html/tree/ENOG4110PNJ epestfind swissprot:GRIK4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:GRIK4_HUMAN garnier swissprot:GRIK4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:GRIK4_HUMAN helixturnhelix swissprot:GRIK4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:GRIK4_HUMAN hmoment swissprot:GRIK4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:GRIK4_HUMAN iep swissprot:GRIK4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:GRIK4_HUMAN inforesidue swissprot:GRIK4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:GRIK4_HUMAN neXtProt NX_Q16099 http://www.nextprot.org/db/entry/NX_Q16099 octanol swissprot:GRIK4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:GRIK4_HUMAN pepcoil swissprot:GRIK4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:GRIK4_HUMAN pepdigest swissprot:GRIK4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:GRIK4_HUMAN pepinfo swissprot:GRIK4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:GRIK4_HUMAN pepnet swissprot:GRIK4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:GRIK4_HUMAN pepstats swissprot:GRIK4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:GRIK4_HUMAN pepwheel swissprot:GRIK4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:GRIK4_HUMAN pepwindow swissprot:GRIK4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:GRIK4_HUMAN sigcleave swissprot:GRIK4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:GRIK4_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS EAA1_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P43003-1; Sequence=Displayed; Name=2; Synonyms=EAAT1ex9skip; IsoId=P43003-2; Sequence=VSP_043913; Note=Expressed throughout the CNS, both in gray matter and axonal tracts, at levels ranging between 10% and 20% of isoform 1. Localizes to ER, has no functional glutamate uptake activity, and exerts a dominant negative effect isoform 1.; # AltName EAA1_HUMAN Sodium-dependent glutamate/aspartate transporter 1 # AltName EAA1_HUMAN Solute carrier family 1 member 3 # BioGrid 112398 7 # CCDS CCDS3919 -. [P43003-1] # CCDS CCDS54844 -. [P43003-2] # ChiTaRS SLC1A3 human # DISEASE EAA1_HUMAN Episodic ataxia 6 (EA6) [MIM 612656] A disorder characterized by episodic ataxia, seizures, migraine and alternating hemiplegia. {ECO 0000269|PubMed 16116111}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000265113 ENSP00000265113; ENSG00000079215. [P43003-1] # Ensembl ENST00000381918 ENSP00000371343; ENSG00000079215. [P43003-2] # ExpressionAtlas P43003 baseline and differential # FUNCTION EAA1_HUMAN Transports L-glutamate and also L- and D-aspartate. Essential for terminating the postsynaptic action of glutamate by rapidly removing released glutamate from the synaptic cleft. Acts as a symport by cotransporting sodium. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0009986 cell surface; IEA:Ensembl. # GO_component GO:0016020 membrane; TAS:ProtInc. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0043005 neuron projection; IEA:Ensembl. # GO_component GO:0043025 neuronal cell body; IEA:Ensembl. # GO_component GO:0043205 fibril; IEA:Ensembl. # GO_function GO:0005313 L-glutamate transmembrane transporter activity; IDA:BHF-UCL. # GO_function GO:0005314 high-affinity glutamate transmembrane transporter activity; TAS:Reactome. # GO_function GO:0015171 amino acid transmembrane transporter activity; TAS:Reactome. # GO_function GO:0016595 glutamate binding; IEA:Ensembl. # GO_function GO:0016597 amino acid binding; IEA:Ensembl. # GO_process GO:0001504 neurotransmitter uptake; TAS:ProtInc. # GO_process GO:0006537 glutamate biosynthetic process; IEA:Ensembl. # GO_process GO:0006811 ion transport; TAS:Reactome. # GO_process GO:0007268 chemical synaptic transmission; TAS:ProtInc. # GO_process GO:0007605 sensory perception of sound; IEA:Ensembl. # GO_process GO:0009416 response to light stimulus; IEA:Ensembl. # GO_process GO:0009449 gamma-aminobutyric acid biosynthetic process; IEA:Ensembl. # GO_process GO:0009611 response to wounding; IEA:Ensembl. # GO_process GO:0014047 glutamate secretion; TAS:Reactome. # GO_process GO:0021545 cranial nerve development; IEA:Ensembl. # GO_process GO:0031223 auditory behavior; IEA:Ensembl. # GO_process GO:0042493 response to drug; IEA:Ensembl. # GO_process GO:0046677 response to antibiotic; IEA:Ensembl. # GO_process GO:0048667 cell morphogenesis involved in neuron differentiation; IEA:Ensembl. # GO_process GO:0050806 positive regulation of synaptic transmission; IEA:Ensembl. # GO_process GO:0050885 neuromuscular process controlling balance; IEA:Ensembl. # GO_process GO:0051938 L-glutamate import; IDA:UniProtKB. # GO_process GO:0070779 D-aspartate import; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0000902 cell morphogenesis # GOslim_process GO:0006520 cellular amino acid metabolic process # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0050877 neurological system process # Gene3D 1.10.3860.10 -; 2. # Genevisible P43003 HS # HGNC HGNC:10941 SLC1A3 # IntAct P43003 3 # InterPro IPR001991 Na-dicarboxylate_symporter # InterPro IPR018107 Na-dicarboxylate_symporter_CS # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko02001 Solute carrier family # KEGG_Disease H00749 [Nervous system disease] Episodic ataxias # KEGG_Pathway ko04724 Glutamatergic synapse # MIM 600111 gene # MIM 612656 phenotype # Organism EAA1_HUMAN Homo sapiens (Human) # Orphanet 209967 Episodic ataxia type 6 # Orphanet 2131 Alternating hemiplegia of childhood # PANTHER PTHR11958 PTHR11958; 2 # PIR S38353 S38353 # PRINTS PR00173 EDTRNSPORT # PROSITE PS00713 NA_DICARBOXYL_SYMP_1 # PROSITE PS00714 NA_DICARBOXYL_SYMP_2 # PTM EAA1_HUMAN Glycosylated. # Pfam PF00375 SDF # Proteomes UP000005640 Chromosome 5 # Reactome R-HSA-210455 Astrocytic Glutamate-Glutamine Uptake And Metabolism # Reactome R-HSA-210500 Glutamate Neurotransmitter Release Cycle # Reactome R-HSA-425393 Transport of inorganic cations/anions and amino acids/oligopeptides # RecName EAA1_HUMAN Excitatory amino acid transporter 1 # RefSeq NP_001160167 NM_001166695.2. [P43003-2] # RefSeq NP_001276869 NM_001289940.1 # RefSeq NP_004163 NM_004172.4. [P43003-1] # RefSeq XP_005248399 XM_005248342.2. [P43003-1] # SIMILARITY Belongs to the dicarboxylate/amino acid:cation symporter (DAACS) (TC 2.A.23) family. SLC1A3 subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION EAA1_HUMAN Membrane; Multi-pass membrane protein. # SUPFAM SSF118215 SSF118215; 2 # TCDB 2.A.23.2:the dicarboxylate/amino acid cation (na(+) or h(+)) symporter (daacs) family # TISSUE SPECIFICITY EAA1_HUMAN Highly expressed in cerebellum, but also found in frontal cortex, hippocampus and basal ganglia. # UCSC uc003jkj human. [P43003-1] # eggNOG COG1301 LUCA # eggNOG KOG3787 Eukaryota BLAST swissprot:EAA1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:EAA1_HUMAN BioCyc ZFISH:ENSG00000079215-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000079215-MONOMER COXPRESdb 6507 http://coxpresdb.jp/data/gene/6507.shtml CleanEx HS_SLC1A3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC1A3 DOI 10.1006/bbrc.1994.1210 http://dx.doi.org/10.1006/bbrc.1994.1210 DOI 10.1016/0014-5793(96)00424-3 http://dx.doi.org/10.1016/0014-5793(96)00424-3 DOI 10.1016/0167-4781(93)90057-K http://dx.doi.org/10.1016/0167-4781(93)90057-K DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature02919 http://dx.doi.org/10.1038/nature02919 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1073/pnas.1210303109 http://dx.doi.org/10.1073/pnas.1210303109 DOI 10.1111/j.1471-4159.2005.03370.x http://dx.doi.org/10.1111/j.1471-4159.2005.03370.x DOI 10.1212/01.WNL.0000172638.58172.5a http://dx.doi.org/10.1212/01.WNL.0000172638.58172.5a EMBL AC008957 http://www.ebi.ac.uk/ena/data/view/AC008957 EMBL AC010631 http://www.ebi.ac.uk/ena/data/view/AC010631 EMBL AK312304 http://www.ebi.ac.uk/ena/data/view/AK312304 EMBL AY954110 http://www.ebi.ac.uk/ena/data/view/AY954110 EMBL CH471119 http://www.ebi.ac.uk/ena/data/view/CH471119 EMBL D26443 http://www.ebi.ac.uk/ena/data/view/D26443 EMBL L19158 http://www.ebi.ac.uk/ena/data/view/L19158 EMBL U03504 http://www.ebi.ac.uk/ena/data/view/U03504 EMBL Z31703 http://www.ebi.ac.uk/ena/data/view/Z31703 EMBL Z31704 http://www.ebi.ac.uk/ena/data/view/Z31704 EMBL Z31705 http://www.ebi.ac.uk/ena/data/view/Z31705 EMBL Z31706 http://www.ebi.ac.uk/ena/data/view/Z31706 EMBL Z31707 http://www.ebi.ac.uk/ena/data/view/Z31707 EMBL Z31708 http://www.ebi.ac.uk/ena/data/view/Z31708 EMBL Z31709 http://www.ebi.ac.uk/ena/data/view/Z31709 EMBL Z31710 http://www.ebi.ac.uk/ena/data/view/Z31710 EMBL Z31713 http://www.ebi.ac.uk/ena/data/view/Z31713 Ensembl ENST00000265113 http://www.ensembl.org/id/ENST00000265113 Ensembl ENST00000381918 http://www.ensembl.org/id/ENST00000381918 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0009986 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009986 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0043005 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043005 GO_component GO:0043025 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043025 GO_component GO:0043205 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043205 GO_function GO:0005313 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005313 GO_function GO:0005314 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005314 GO_function GO:0015171 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015171 GO_function GO:0016595 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016595 GO_function GO:0016597 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016597 GO_process GO:0001504 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001504 GO_process GO:0006537 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006537 GO_process GO:0006811 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006811 GO_process GO:0007268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007268 GO_process GO:0007605 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007605 GO_process GO:0009416 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009416 GO_process GO:0009449 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009449 GO_process GO:0009611 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009611 GO_process GO:0014047 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014047 GO_process GO:0021545 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021545 GO_process GO:0031223 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031223 GO_process GO:0042493 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042493 GO_process GO:0046677 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046677 GO_process GO:0048667 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048667 GO_process GO:0050806 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050806 GO_process GO:0050885 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050885 GO_process GO:0051938 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051938 GO_process GO:0070779 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070779 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0000902 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000902 GOslim_process GO:0006520 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006520 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 Gene3D 1.10.3860.10 http://www.cathdb.info/version/latest/superfamily/1.10.3860.10 GeneCards SLC1A3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC1A3 GeneID 6507 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6507 GeneTree ENSGT00760000119117 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119117 HGNC HGNC:10941 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10941 HOGENOM HOG000208776 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000208776&db=HOGENOM6 HOVERGEN HBG000080 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG000080&db=HOVERGEN HPA CAB002573 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB002573 HPA HPA037467 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA037467 HPA HPA037468 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA037468 InParanoid P43003 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P43003 IntAct P43003 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P43003* InterPro IPR001991 http://www.ebi.ac.uk/interpro/entry/IPR001991 InterPro IPR018107 http://www.ebi.ac.uk/interpro/entry/IPR018107 Jabion 6507 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6507 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Disease H00749 http://www.genome.jp/dbget-bin/www_bget?H00749 KEGG_Gene hsa:6507 http://www.genome.jp/dbget-bin/www_bget?hsa:6507 KEGG_Orthology KO:K05614 http://www.genome.jp/dbget-bin/www_bget?KO:K05614 KEGG_Pathway ko04724 http://www.genome.jp/kegg-bin/show_pathway?ko04724 MIM 600111 http://www.ncbi.nlm.nih.gov/omim/600111 MIM 612656 http://www.ncbi.nlm.nih.gov/omim/612656 MINT MINT-5004226 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-5004226 OMA FKTSYEK http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=FKTSYEK Orphanet 209967 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=209967 Orphanet 2131 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=2131 OrthoDB EOG091G0UCE http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0UCE PANTHER PTHR11958 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11958 PRINTS PR00173 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00173 PROSITE PS00713 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00713 PROSITE PS00714 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00714 PSORT swissprot:EAA1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:EAA1_HUMAN PSORT-B swissprot:EAA1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:EAA1_HUMAN PSORT2 swissprot:EAA1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:EAA1_HUMAN Pfam PF00375 http://pfam.xfam.org/family/PF00375 PharmGKB PA35828 http://www.pharmgkb.org/do/serve?objId=PA35828&objCls=Gene Phobius swissprot:EAA1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:EAA1_HUMAN PhylomeDB P43003 http://phylomedb.org/?seqid=P43003 ProteinModelPortal P43003 http://www.proteinmodelportal.org/query/uniprot/P43003 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15372022 http://www.ncbi.nlm.nih.gov/pubmed/15372022 PubMed 16042756 http://www.ncbi.nlm.nih.gov/pubmed/16042756 PubMed 16116111 http://www.ncbi.nlm.nih.gov/pubmed/16116111 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 22814378 http://www.ncbi.nlm.nih.gov/pubmed/22814378 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 7521911 http://www.ncbi.nlm.nih.gov/pubmed/7521911 PubMed 8123008 http://www.ncbi.nlm.nih.gov/pubmed/8123008 PubMed 8218410 http://www.ncbi.nlm.nih.gov/pubmed/8218410 PubMed 8647279 http://www.ncbi.nlm.nih.gov/pubmed/8647279 Reactome R-HSA-210455 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-210455 Reactome R-HSA-210500 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-210500 Reactome R-HSA-425393 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-425393 RefSeq NP_001160167 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001160167 RefSeq NP_001276869 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001276869 RefSeq NP_004163 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004163 RefSeq XP_005248399 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005248399 STRING 9606.ENSP00000265113 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000265113&targetmode=cogs SUPFAM SSF118215 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF118215 TCDB 2.A.23.2 http://www.tcdb.org/search/result.php?tc=2.A.23.2 UCSC uc003jkj http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003jkj&org=rat UniGene Hs.481918 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.481918 UniProtKB EAA1_HUMAN http://www.uniprot.org/uniprot/EAA1_HUMAN UniProtKB-AC P43003 http://www.uniprot.org/uniprot/P43003 charge swissprot:EAA1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:EAA1_HUMAN eggNOG COG1301 http://eggnogapi.embl.de/nog_data/html/tree/COG1301 eggNOG KOG3787 http://eggnogapi.embl.de/nog_data/html/tree/KOG3787 epestfind swissprot:EAA1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:EAA1_HUMAN garnier swissprot:EAA1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:EAA1_HUMAN helixturnhelix swissprot:EAA1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:EAA1_HUMAN hmoment swissprot:EAA1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:EAA1_HUMAN iep swissprot:EAA1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:EAA1_HUMAN inforesidue swissprot:EAA1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:EAA1_HUMAN neXtProt NX_P43003 http://www.nextprot.org/db/entry/NX_P43003 octanol swissprot:EAA1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:EAA1_HUMAN pepcoil swissprot:EAA1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:EAA1_HUMAN pepdigest swissprot:EAA1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:EAA1_HUMAN pepinfo swissprot:EAA1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:EAA1_HUMAN pepnet swissprot:EAA1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:EAA1_HUMAN pepstats swissprot:EAA1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:EAA1_HUMAN pepwheel swissprot:EAA1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:EAA1_HUMAN pepwindow swissprot:EAA1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:EAA1_HUMAN sigcleave swissprot:EAA1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:EAA1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS CNGB3_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NQW8-1; Sequence=Displayed; Name=2; IsoId=Q9NQW8-2; Sequence=VSP_009742; Note=No experimental confirmation available.; # AltName CNGB3_HUMAN Cone photoreceptor cGMP-gated channel subunit beta # AltName CNGB3_HUMAN Cyclic nucleotide-gated cation channel modulatory subunit # AltName CNGB3_HUMAN Cyclic nucleotide-gated channel beta-3 # CCDS CCDS6244 -. [Q9NQW8-1] # DISEASE CNGB3_HUMAN Achromatopsia 3 (ACHM3) [MIM 262300] An ocular stationary disorder due to the absence of functioning cone photoreceptors in the retina. It is characterized by total colorblindness, low visual acuity, photophobia and nystagmus. Achromatopsia type 3 patients manifest severe myopia. {ECO 0000269|PubMed 10888875, ECO 0000269|PubMed 10958649, ECO 0000269|PubMed 12357335, ECO 0000269|PubMed 14757870, ECO 0000269|PubMed 15657609, ECO 0000269|PubMed 15712225}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE CNGB3_HUMAN Stargardt disease 1 (STGD1) [MIM 248200] A common hereditary macular degeneration. It is characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina. {ECO 0000269|PubMed 15712225}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000320005 ENSP00000316605; ENSG00000170289. [Q9NQW8-1] # ExpressionAtlas Q9NQW8 baseline and differential # FUNCTION CNGB3_HUMAN Visual signal transduction is mediated by a G-protein coupled cascade using cGMP as second messenger. This protein can be activated by cGMP which leads to an opening of the cation channel and thereby causing a depolarization of rod photoreceptors. Induced a flickering channel gating, weakened the outward rectification in the presence of extracellular calcium, increased sensitivity for L-cis diltiazem and enhanced the cAMP efficiency of the channel when coexpressed with CNGA3 (By similarity). Essential for the generation of light-evoked electrical responses in the red-, green- and blue sensitive cones. {ECO 0000250, ECO 0000269|PubMed 10888875}. # GO_component GO:0001750 photoreceptor outer segment; IEA:Ensembl. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_component GO:1902495 transmembrane transporter complex; IDA:UniProtKB. # GO_function GO:0005222 intracellular cAMP activated cation channel activity; IBA:GO_Central. # GO_function GO:0005223 intracellular cGMP activated cation channel activity; IDA:UniProtKB. # GO_function GO:0005249 voltage-gated potassium channel activity; IBA:GO_Central. # GO_function GO:0030553 cGMP binding; IDA:UniProtKB. # GO_process GO:0006810 transport; NAS:ProtInc. # GO_process GO:0006812 cation transport; IDA:UniProtKB. # GO_process GO:0007165 signal transduction; NAS:ProtInc. # GO_process GO:0007601 visual perception; TAS:ProtInc. # GO_process GO:0042391 regulation of membrane potential; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0050877 neurological system process # Gene3D 2.60.120.10 -; 1. # Genevisible Q9NQW8 HS # HGNC HGNC:2153 CNGB3 # InterPro IPR000595 cNMP-bd_dom # InterPro IPR014710 RmlC-like_jellyroll # InterPro IPR018488 cNMP-bd_CS # InterPro IPR018490 cNMP-bd-like # InterPro IPR032943 CNG6 # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00819 [Nervous system disease; Eye disease] Fundus flavimaculatus # KEGG_Disease H00971 [Eye disease] Rod monochromacy # MIM 248200 phenotype # MIM 262300 phenotype # MIM 605080 gene # Organism CNGB3_HUMAN Homo sapiens (Human) # Orphanet 1871 Progressive cone dystrophy # Orphanet 49382 Achromatopsia # Orphanet 827 Stargardt disease # PANTHER PTHR10217:SF385 PTHR10217:SF385 # PROSITE PS00888 CNMP_BINDING_1 # PROSITE PS00889 CNMP_BINDING_2 # PROSITE PS50042 CNMP_BINDING_3 # Pfam PF00027 cNMP_binding # Proteomes UP000005640 Chromosome 8 # RecName CNGB3_HUMAN Cyclic nucleotide-gated cation channel beta-3 # RefSeq NP_061971 NM_019098.4. [Q9NQW8-1] # SEQUENCE CAUTION Sequence=AAF80179.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the cyclic nucleotide-gated cation channel (TC 1.A.1.5) family. CNGB3 subfamily. {ECO 0000305}. # SIMILARITY Contains 1 cyclic nucleotide-binding domain. {ECO:0000255|PROSITE-ProRule PRU00060}. # SMART SM00100 cNMP # SUBCELLULAR LOCATION CNGB3_HUMAN Membrane; Multi-pass membrane protein. # SUBUNIT CNGB3_HUMAN Tetramer formed of three CNGA3 and one CNGB3 modulatory subunits. {ECO 0000269|PubMed 10888875, ECO 0000269|PubMed 21878911}. # SUPFAM SSF51206 SSF51206 # TISSUE SPECIFICITY Expressed specifically in the retina. {ECO:0000269|PubMed 10958649}. # UCSC uc003ydx human. [Q9NQW8-1] # eggNOG ENOG410ZJ5U LUCA # eggNOG KOG0499 Eukaryota BLAST swissprot:CNGB3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CNGB3_HUMAN BioCyc ZFISH:ENSG00000170289-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000170289-MONOMER COXPRESdb 54714 http://coxpresdb.jp/data/gene/54714.shtml CleanEx HS_CNGB3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CNGB3 DOI 10.1002/humu.20142 http://dx.doi.org/10.1002/humu.20142 DOI 10.1038/77162 http://dx.doi.org/10.1038/77162 DOI 10.1038/nature04406 http://dx.doi.org/10.1038/nature04406 DOI 10.1038/ncomms1466 http://dx.doi.org/10.1038/ncomms1466 DOI 10.1038/sj.ejhg.5200856 http://dx.doi.org/10.1038/sj.ejhg.5200856 DOI 10.1038/sj.ejhg.5201269 http://dx.doi.org/10.1038/sj.ejhg.5201269 DOI 10.1093/hmg/9.14.2107 http://dx.doi.org/10.1093/hmg/9.14.2107 DOI 10.1136/jmg.2003.011437 http://dx.doi.org/10.1136/jmg.2003.011437 EMBL AC013751 http://www.ebi.ac.uk/ena/data/view/AC013751 EMBL AC090572 http://www.ebi.ac.uk/ena/data/view/AC090572 EMBL AF228520 http://www.ebi.ac.uk/ena/data/view/AF228520 EMBL AF272900 http://www.ebi.ac.uk/ena/data/view/AF272900 Ensembl ENST00000320005 http://www.ensembl.org/id/ENST00000320005 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0001750 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001750 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:1902495 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902495 GO_function GO:0005222 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005222 GO_function GO:0005223 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005223 GO_function GO:0005249 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005249 GO_function GO:0030553 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030553 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0006812 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006812 GO_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GO_process GO:0007601 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007601 GO_process GO:0042391 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042391 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 Gene3D 2.60.120.10 http://www.cathdb.info/version/latest/superfamily/2.60.120.10 GeneCards CNGB3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CNGB3 GeneID 54714 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=54714 GeneTree ENSGT00760000118772 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118772 H-InvDB HIX0034272 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0034272 HGNC HGNC:2153 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:2153 HOGENOM HOG000231425 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231425&db=HOGENOM6 HOVERGEN HBG051038 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG051038&db=HOVERGEN HPA CAB012803 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB012803 InParanoid Q9NQW8 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9NQW8 InterPro IPR000595 http://www.ebi.ac.uk/interpro/entry/IPR000595 InterPro IPR014710 http://www.ebi.ac.uk/interpro/entry/IPR014710 InterPro IPR018488 http://www.ebi.ac.uk/interpro/entry/IPR018488 InterPro IPR018490 http://www.ebi.ac.uk/interpro/entry/IPR018490 InterPro IPR032943 http://www.ebi.ac.uk/interpro/entry/IPR032943 Jabion 54714 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=54714 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00819 http://www.genome.jp/dbget-bin/www_bget?H00819 KEGG_Disease H00971 http://www.genome.jp/dbget-bin/www_bget?H00971 KEGG_Gene hsa:54714 http://www.genome.jp/dbget-bin/www_bget?hsa:54714 KEGG_Orthology KO:K04953 http://www.genome.jp/dbget-bin/www_bget?KO:K04953 MIM 248200 http://www.ncbi.nlm.nih.gov/omim/248200 MIM 262300 http://www.ncbi.nlm.nih.gov/omim/262300 MIM 605080 http://www.ncbi.nlm.nih.gov/omim/605080 OMA VDLFKGC http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=VDLFKGC Orphanet 1871 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1871 Orphanet 49382 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=49382 Orphanet 827 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=827 OrthoDB EOG091G03EW http://cegg.unige.ch/orthodb/results?searchtext=EOG091G03EW PANTHER PTHR10217:SF385 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10217:SF385 PROSITE PS00888 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00888 PROSITE PS00889 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00889 PROSITE PS50042 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50042 PSORT swissprot:CNGB3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CNGB3_HUMAN PSORT-B swissprot:CNGB3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CNGB3_HUMAN PSORT2 swissprot:CNGB3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CNGB3_HUMAN Pfam PF00027 http://pfam.xfam.org/family/PF00027 PharmGKB PA26663 http://www.pharmgkb.org/do/serve?objId=PA26663&objCls=Gene Phobius swissprot:CNGB3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CNGB3_HUMAN PhylomeDB Q9NQW8 http://phylomedb.org/?seqid=Q9NQW8 ProteinModelPortal Q9NQW8 http://www.proteinmodelportal.org/query/uniprot/Q9NQW8 PubMed 10888875 http://www.ncbi.nlm.nih.gov/pubmed/10888875 PubMed 10958649 http://www.ncbi.nlm.nih.gov/pubmed/10958649 PubMed 12357335 http://www.ncbi.nlm.nih.gov/pubmed/12357335 PubMed 14757870 http://www.ncbi.nlm.nih.gov/pubmed/14757870 PubMed 15657609 http://www.ncbi.nlm.nih.gov/pubmed/15657609 PubMed 15712225 http://www.ncbi.nlm.nih.gov/pubmed/15712225 PubMed 16421571 http://www.ncbi.nlm.nih.gov/pubmed/16421571 PubMed 21878911 http://www.ncbi.nlm.nih.gov/pubmed/21878911 RefSeq NP_061971 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_061971 SMART SM00100 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00100 STRING 9606.ENSP00000316605 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000316605&targetmode=cogs SUPFAM SSF51206 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF51206 UCSC uc003ydx http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003ydx&org=rat UniGene Hs.154433 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.154433 UniProtKB CNGB3_HUMAN http://www.uniprot.org/uniprot/CNGB3_HUMAN UniProtKB-AC Q9NQW8 http://www.uniprot.org/uniprot/Q9NQW8 charge swissprot:CNGB3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CNGB3_HUMAN eggNOG ENOG410ZJ5U http://eggnogapi.embl.de/nog_data/html/tree/ENOG410ZJ5U eggNOG KOG0499 http://eggnogapi.embl.de/nog_data/html/tree/KOG0499 epestfind swissprot:CNGB3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CNGB3_HUMAN garnier swissprot:CNGB3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CNGB3_HUMAN helixturnhelix swissprot:CNGB3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CNGB3_HUMAN hmoment swissprot:CNGB3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CNGB3_HUMAN iep swissprot:CNGB3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CNGB3_HUMAN inforesidue swissprot:CNGB3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CNGB3_HUMAN neXtProt NX_Q9NQW8 http://www.nextprot.org/db/entry/NX_Q9NQW8 octanol swissprot:CNGB3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CNGB3_HUMAN pepcoil swissprot:CNGB3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CNGB3_HUMAN pepdigest swissprot:CNGB3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CNGB3_HUMAN pepinfo swissprot:CNGB3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CNGB3_HUMAN pepnet swissprot:CNGB3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CNGB3_HUMAN pepstats swissprot:CNGB3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CNGB3_HUMAN pepwheel swissprot:CNGB3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CNGB3_HUMAN pepwindow swissprot:CNGB3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CNGB3_HUMAN sigcleave swissprot:CNGB3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CNGB3_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS NPT4_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O00476-1; Sequence=Displayed; Name=2; IsoId=O00476-2; Sequence=VSP_042888; Note=No experimental confirmation available.; # AltName NPT4_HUMAN Na(+)/PI cotransporter 4 # AltName NPT4_HUMAN Sodium/phosphate cotransporter 4 # AltName NPT4_HUMAN Solute carrier family 17 member 3 # CCDS CCDS4566 -. [O00476-1] # CCDS CCDS47385 -. [O00476-2] # CDD cd06174 MFS # Ensembl ENST00000360657 ENSP00000353873; ENSG00000124564. [O00476-1] # Ensembl ENST00000361703 ENSP00000355307; ENSG00000124564. [O00476-1] # Ensembl ENST00000397060 ENSP00000380250; ENSG00000124564. [O00476-2] # ExpressionAtlas O00476 baseline and differential # FUNCTION NPT4_HUMAN Isoform 2 voltage-driven, multispecific, organic anion transporter able to transport para-aminohippurate (PAH), estrone sulfate, estradiol-17-beta-glucuronide, bumetanide, and ochratoxin A. Isoform 2 functions as urate efflux transporter on the apical side of renal proximal tubule and is likely to act as an exit path for organic anionic drugs as well as urate in vivo. May be involved in actively transporting phosphate into cells via Na(+) cotransport. # GO_component GO:0005737 cytoplasm; IDA:UniProtKB. # GO_component GO:0005789 endoplasmic reticulum membrane; IDA:UniProtKB. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IDA:UniProtKB. # GO_component GO:0016324 apical plasma membrane; IDA:UniProtKB. # GO_component GO:0031526 brush border membrane; ISS:UniProtKB. # GO_component GO:0048471 perinuclear region of cytoplasm; IDA:UniProtKB. # GO_function GO:0008308 voltage-gated anion channel activity; IDA:UniProtKB. # GO_function GO:0008514 organic anion transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0015143 urate transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0015238 drug transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0015321 sodium-dependent phosphate transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015562 efflux transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0019534 toxin transporter activity; IDA:UniProtKB. # GO_function NPT4_HUMAN GO 0005436 sodium phosphate symporter activity; ISS UniProtKB. # GO_process GO:0006814 sodium ion transport; ISS:UniProtKB. # GO_process GO:0006817 phosphate ion transport; ISS:UniProtKB. # GO_process GO:0015711 organic anion transport; IDA:UniProtKB. # GO_process GO:0015747 urate transport; IDA:UniProtKB. # GO_process GO:0015760 glucose-6-phosphate transport; TAS:UniProtKB. # GO_process GO:0015893 drug transport; IDA:UniProtKB. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0035725 sodium ion transmembrane transport; IBA:GO_Central. # GO_process GO:0046415 urate metabolic process; IMP:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0044281 small molecule metabolic process # GOslim_process GO:0055085 transmembrane transport # Genevisible O00476 HS # HGNC HGNC:10931 SLC17A3 # InterPro IPR011701 MFS # InterPro IPR017373 Na-dep_P-transpt_4_prd # InterPro IPR020846 MFS_dom # KEGG_Brite ko02000 Transporters # KEGG_Brite ko02001 Solute carrier family # MIM 611034 gene # MIM 612671 phenotype # Organism NPT4_HUMAN Homo sapiens (Human) # PIRSF PIRSF038072 Na(+)/PI_cotransporter4_prd # POLYMORPHISM Genetic variations in SLC17A3 influence the variance in serum uric acid concentrations and define the serum uric acid concentration quantitative trait locus 4 (UAQTL4) [MIM:612671]. Excess serum accumulation of uric acid can lead to the development of gout, a common disorder characterized by tissue deposition of monosodium urate crystals as a consequence of hyperuricemia. {ECO 0000269|PubMed:20810651}. # PROSITE PS50850 MFS # Pfam PF07690 MFS_1 # Proteomes UP000005640 Chromosome 6 # Reactome R-HSA-2672351 Stimuli-sensing channels # RecName NPT4_HUMAN Sodium-dependent phosphate transport protein 4 # RefSeq NP_001091956 NM_001098486.1. [O00476-2] # RefSeq NP_006623 NM_006632.3. [O00476-1] # SEQUENCE CAUTION Sequence=AAB53423.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the major facilitator superfamily. Sodium/anion cotransporter family. {ECO 0000305}. # SUBCELLULAR LOCATION NPT4_HUMAN Isoform 1 Endoplasmic reticulum membrane {ECO 0000269|PubMed 15505377}; Multi-pass membrane protein {ECO 0000269|PubMed 15505377}. # SUBCELLULAR LOCATION NPT4_HUMAN Isoform 2 Cell membrane {ECO 0000269|PubMed 20810651}; Multi-pass membrane protein {ECO 0000269|PubMed 20810651}. # SUPFAM SSF103473 SSF103473 # TCDB 2.A.1.14.28 the major facilitator superfamily (mfs) # TISSUE SPECIFICITY NPT4_HUMAN Expressed in the liver and kidney. It is detected in proximal tubules in renal cortex as well as some tubules and glomeruli, with highest expression at the apical side of proximal tubules (at protein level). {ECO 0000269|PubMed 20810651, ECO 0000269|PubMed 9149941}. # UCSC uc003nfi human. [O00476-1] # eggNOG COG0477 LUCA # eggNOG KOG2532 Eukaryota BLAST swissprot:NPT4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:NPT4_HUMAN BioCyc ZFISH:ENSG00000124564-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000124564-MONOMER COXPRESdb 10786 http://coxpresdb.jp/data/gene/10786.shtml CleanEx HS_SLC17A3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC17A3 DOI 10.1023/B:BOLI.0000045755.89308.2f http://dx.doi.org/10.1023/B:BOLI.0000045755.89308.2f DOI 10.1038/nature02055 http://dx.doi.org/10.1038/nature02055 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1074/jbc.M110.121301 http://dx.doi.org/10.1074/jbc.M110.121301 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AK298271 http://www.ebi.ac.uk/ena/data/view/AK298271 EMBL AL138726 http://www.ebi.ac.uk/ena/data/view/AL138726 EMBL BC017952 http://www.ebi.ac.uk/ena/data/view/BC017952 EMBL CH471087 http://www.ebi.ac.uk/ena/data/view/CH471087 EMBL U90545 http://www.ebi.ac.uk/ena/data/view/U90545 Ensembl ENST00000360657 http://www.ensembl.org/id/ENST00000360657 Ensembl ENST00000361703 http://www.ensembl.org/id/ENST00000361703 Ensembl ENST00000397060 http://www.ensembl.org/id/ENST00000397060 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005789 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005789 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:0031526 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031526 GO_component GO:0048471 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048471 GO_function GO:0005436 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005436 GO_function GO:0008308 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008308 GO_function GO:0008514 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008514 GO_function GO:0015143 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015143 GO_function GO:0015238 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015238 GO_function GO:0015321 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015321 GO_function GO:0015562 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015562 GO_function GO:0019534 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019534 GO_process GO:0006814 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006814 GO_process GO:0006817 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006817 GO_process GO:0015711 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015711 GO_process GO:0015747 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015747 GO_process GO:0015760 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015760 GO_process GO:0015893 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015893 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0035725 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035725 GO_process GO:0046415 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046415 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC17A3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC17A3 GeneID 10786 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=10786 GeneTree ENSGT00760000119079 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119079 H-InvDB HIX0005635 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0005635 HGNC HGNC:10931 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10931 HOGENOM HOG000230813 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000230813&db=HOGENOM6 HOVERGEN HBG008834 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG008834&db=HOVERGEN HPA HPA016569 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA016569 InParanoid O00476 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O00476 InterPro IPR011701 http://www.ebi.ac.uk/interpro/entry/IPR011701 InterPro IPR017373 http://www.ebi.ac.uk/interpro/entry/IPR017373 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 10786 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=10786 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Gene hsa:10786 http://www.genome.jp/dbget-bin/www_bget?hsa:10786 KEGG_Orthology KO:K12300 http://www.genome.jp/dbget-bin/www_bget?KO:K12300 MIM 611034 http://www.ncbi.nlm.nih.gov/omim/611034 MIM 612671 http://www.ncbi.nlm.nih.gov/omim/612671 OMA NITMVAM http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=NITMVAM OrthoDB EOG091G077Z http://cegg.unige.ch/orthodb/results?searchtext=EOG091G077Z PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PSORT swissprot:NPT4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:NPT4_HUMAN PSORT-B swissprot:NPT4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:NPT4_HUMAN PSORT2 swissprot:NPT4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:NPT4_HUMAN Pfam PF07690 http://pfam.xfam.org/family/PF07690 PharmGKB PA35822 http://www.pharmgkb.org/do/serve?objId=PA35822&objCls=Gene Phobius swissprot:NPT4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:NPT4_HUMAN PhylomeDB O00476 http://phylomedb.org/?seqid=O00476 ProteinModelPortal O00476 http://www.proteinmodelportal.org/query/uniprot/O00476 PubMed 14574404 http://www.ncbi.nlm.nih.gov/pubmed/14574404 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15505377 http://www.ncbi.nlm.nih.gov/pubmed/15505377 PubMed 20810651 http://www.ncbi.nlm.nih.gov/pubmed/20810651 PubMed 9149941 http://www.ncbi.nlm.nih.gov/pubmed/9149941 Reactome R-HSA-2672351 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2672351 RefSeq NP_001091956 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001091956 RefSeq NP_006623 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_006623 STRING 9606.ENSP00000380250 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000380250&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.1.14.28 http://www.tcdb.org/search/result.php?tc=2.A.1.14.28 UCSC uc003nfi http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003nfi&org=rat UniGene Hs.327179 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.327179 UniProtKB NPT4_HUMAN http://www.uniprot.org/uniprot/NPT4_HUMAN UniProtKB-AC O00476 http://www.uniprot.org/uniprot/O00476 charge swissprot:NPT4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:NPT4_HUMAN eggNOG COG0477 http://eggnogapi.embl.de/nog_data/html/tree/COG0477 eggNOG KOG2532 http://eggnogapi.embl.de/nog_data/html/tree/KOG2532 epestfind swissprot:NPT4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:NPT4_HUMAN garnier swissprot:NPT4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:NPT4_HUMAN helixturnhelix swissprot:NPT4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:NPT4_HUMAN hmoment swissprot:NPT4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:NPT4_HUMAN iep swissprot:NPT4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:NPT4_HUMAN inforesidue swissprot:NPT4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:NPT4_HUMAN neXtProt NX_O00476 http://www.nextprot.org/db/entry/NX_O00476 octanol swissprot:NPT4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:NPT4_HUMAN pepcoil swissprot:NPT4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:NPT4_HUMAN pepdigest swissprot:NPT4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:NPT4_HUMAN pepinfo swissprot:NPT4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:NPT4_HUMAN pepnet swissprot:NPT4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:NPT4_HUMAN pepstats swissprot:NPT4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:NPT4_HUMAN pepwheel swissprot:NPT4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:NPT4_HUMAN pepwindow swissprot:NPT4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:NPT4_HUMAN sigcleave swissprot:NPT4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:NPT4_HUMAN ## Database ID URL or Descriptions # AltName SCNNG_HUMAN Epithelial Na(+) channel subunit gamma # AltName SCNNG_HUMAN Gamma-NaCH # AltName SCNNG_HUMAN Nonvoltage-gated sodium channel 1 subunit gamma # AltName SCNNG_HUMAN SCNEG # BioGrid 112244 13 # DISEASE SCNNG_HUMAN Bronchiectasis with or without elevated sweat chloride 3 (BESC3) [MIM 613071] A debilitating respiratory disease characterized by chronic, abnormal dilatation of the bronchi and other cystic fibrosis-like symptoms in the absence of known causes of bronchiectasis (cystic fibrosis, autoimmune diseases, ciliary dyskinesia, common variable immunodeficiency, foreign body obstruction). Clinical features include sub-normal lung function, sinopulmonary infections, chronic productive cough, excessive sputum production, and elevated sweat chloride in some cases. {ECO 0000269|PubMed 18507830, ECO 0000269|PubMed 19017867}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE SCNNG_HUMAN Liddle syndrome (LIDLS) [MIM 177200] An autosomal dominant disorder characterized by hypertension, hypokalemic alkalosis, and suppression of plasma renin activity and aldosterone secretion. {ECO 0000269|PubMed 7550319}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DrugBank DB00384 Triamterene # DrugBank DB00594 Amiloride # ENZYME REGULATION Activated by WNK1, WNK2, WNK3 and WNK4. {ECO:0000250|UniProtKB Q9WU39}. # Ensembl ENST00000300061 ENSP00000300061; ENSG00000166828 # ExpressionAtlas P51170 baseline and differential # FUNCTION SCNNG_HUMAN Sodium permeable non-voltage-sensitive ion channel inhibited by the diuretic amiloride. Mediates the electrodiffusion of the luminal sodium (and water, which follows osmotically) through the apical membrane of epithelial cells. Plays an essential role in electrolyte and blood pressure homeostasis, but also in airway surface liquid homeostasis, which is important for proper clearance of mucus. Controls the reabsorption of sodium in kidney, colon, lung and sweat glands. Also plays a role in taste perception. {ECO 0000269|PubMed 24124190, ECO 0000303|PubMed 7490094}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; IDA:UniProtKB. # GO_component GO:0009897 external side of plasma membrane; IEA:Ensembl. # GO_component GO:0016324 apical plasma membrane; IEA:UniProtKB-SubCell. # GO_component GO:0034706 sodium channel complex; IDA:UniProtKB. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0005216 ion channel activity; IMP:CACAO. # GO_function GO:0005272 sodium channel activity; TAS:ProtInc. # GO_function GO:0015280 ligand-gated sodium channel activity; TAS:ProtInc. # GO_function GO:0050699 WW domain binding; IPI:BHF-UCL. # GO_process GO:0006814 sodium ion transport; TAS:ProtInc. # GO_process GO:0007588 excretion; TAS:ProtInc. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0035725 sodium ion transmembrane transport; IDA:UniProtKB. # GO_process GO:0050891 multicellular organismal water homeostasis; IDA:UniProtKB. # GO_process GO:0050896 response to stimulus; IEA:UniProtKB-KW. # GO_process GO:0050909 sensory perception of taste; IEA:UniProtKB-KW. # GO_process GO:0055078 sodium ion homeostasis; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0050877 neurological system process # GOslim_process GO:0055085 transmembrane transport # Genevisible P51170 HS # HGNC HGNC:10602 SCNN1G # INTERACTION SCNNG_HUMAN P37088 SCNN1A; NbExp=3; IntAct=EBI-2547354, EBI-7845444; # IntAct P51170 3 # InterPro IPR001873 Na+channel_ASC # InterPro IPR004724 ENaC # InterPro IPR020903 Na+channel_ASC_CS # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Disease H00242 [Endocrine disease; Urinary system disease] Liddle syndrome # KEGG_Disease H00243 [Endocrine disease; Urinary system disease] Pseudohypoaldosteronism type II (Gordon's syndrome) # KEGG_Disease H00892 [Respiratory disease] Bronchiectasis with or without elevated sweat chloride # KEGG_Disease H01633 [Cardiovascular diseases] Hypertension # KEGG_Pathway ko04742 Taste transduction # KEGG_Pathway ko04960 Aldosterone-regulated sodium reabsorption # MIM 177200 phenotype # MIM 600761 gene # MIM 613071 phenotype # Organism SCNNG_HUMAN Homo sapiens (Human) # Orphanet 171876 Generalized pseudohypoaldosteronism type 1 # Orphanet 526 Liddle syndrome # Orphanet 60033 Idiopathic bronchiectasis # PANTHER PTHR11690 PTHR11690; 2 # PIR I38204 I38204 # PIR I64847 I64847 # PRINTS PR01078 AMINACHANNEL # PROSITE PS01206 ASC # PTM SCNNG_HUMAN ENaC cleavage by furin, and subsequently by prostasin (PRSS8), leads to a stepwise increase in the open probability of the channel as a result of release of the alpha and gamma subunit inhibitory tracts, respectively. Interaction of ENaC subunit SCNN1B with BPIFA1 protects ENaC against proteolytic activation. {ECO 0000269|PubMed 18650438, ECO 0000269|PubMed 24124190}. # PTM SCNNG_HUMAN Phosphorylated on serine and threonine residues. Aldosterone and insulin increase the basal level of phosphorylation. {ECO 0000250|UniProtKB P37091}. # PTM SCNNG_HUMAN Ubiquitinated; this targets individual subunits for endocytosis and proteasome-mediated degradation. {ECO 0000250|UniProtKB P37091}. # Pfam PF00858 ASC # Proteomes UP000005640 Chromosome 16 # Reactome R-HSA-2672351 Stimuli-sensing channels # RecName SCNNG_HUMAN Amiloride-sensitive sodium channel subunit gamma # RefSeq NP_001030 NM_001039.3 # SIMILARITY Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family. SCNN1G subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION SCNNG_HUMAN Apical cell membrane {ECO 0000269|PubMed 24124190, ECO 0000303|PubMed 7490094}; Multi- pass membrane protein {ECO 0000250|UniProtKB P37089}. Note=Apical membrane of epithelial cells. {ECO 0000303|PubMed 7490094}. # SUBUNIT SCNNG_HUMAN Heterotrimer containing an alpha/SCNN1A, a beta/SCNN1B and a gamma/SCNN1G subunit. An additional delta/SCNN1D subunit exists only in some organisms and can replace the alpha/SCNN1A subunit to form an alternative channel with specific properties (PubMed 7762608). Interacts with NEDD4; via the WW domains (PubMed 11244092, PubMed 12167593). Interacts with NEDD4L; via the WW domains (PubMed 11244092). Interacts with WWP1; via the WW domains (PubMed 9169421). Interacts with WWP2; via the WW domains (PubMed 9169421, PubMed 12167593). Interacts with the full length immature form of PCSK9 (pro-PCSK9) (PubMed 22493497). {ECO 0000269|PubMed 11244092, ECO 0000269|PubMed 12167593, ECO 0000269|PubMed 22493497, ECO 0000269|PubMed 24124190, ECO 0000269|PubMed 7490094, ECO 0000269|PubMed 7762608, ECO 0000269|PubMed 9169421}. # TCDB 1.A.6.1 the epithelial na(+) channel (enac) family # TIGRFAMs TIGR00859 ENaC # TISSUE SPECIFICITY Expressed in kidney (at protein level). {ECO:0000269|PubMed 22207244}. # UCSC uc002dlm human # eggNOG ENOG410ZNFK LUCA # eggNOG KOG4294 Eukaryota BLAST swissprot:SCNNG_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SCNNG_HUMAN BioCyc ZFISH:ENSG00000166828-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000166828-MONOMER COXPRESdb 6340 http://coxpresdb.jp/data/gene/6340.shtml DOI 10.1006/geno.1995.1188 http://dx.doi.org/10.1006/geno.1995.1188 DOI 10.1007/s00418-011-0904-1 http://dx.doi.org/10.1007/s00418-011-0904-1 DOI 10.1016/j.gene.2015.12.061 http://dx.doi.org/10.1016/j.gene.2015.12.061 DOI 10.1038/10297 http://dx.doi.org/10.1038/10297 DOI 10.1038/ng0995-76 http://dx.doi.org/10.1038/ng0995-76 DOI 10.1074/jbc.271.42.26062 http://dx.doi.org/10.1074/jbc.271.42.26062 DOI 10.1074/jbc.272.23.14611 http://dx.doi.org/10.1074/jbc.272.23.14611 DOI 10.1074/jbc.C000906200 http://dx.doi.org/10.1074/jbc.C000906200 DOI 10.1074/jbc.M112.363382 http://dx.doi.org/10.1074/jbc.M112.363382 DOI 10.1074/jbc.M803931200 http://dx.doi.org/10.1074/jbc.M803931200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.1133427 http://dx.doi.org/10.1126/science.1133427 DOI 10.1152/ajplung.00103.2013 http://dx.doi.org/10.1152/ajplung.00103.2013 DOI 10.1152/ajprenal.00080.2002 http://dx.doi.org/10.1152/ajprenal.00080.2002 DOI 10.1186/1465-9921-9-46 http://dx.doi.org/10.1186/1465-9921-9-46 DOI 10.1210/jc.84.7.2434 http://dx.doi.org/10.1210/jc.84.7.2434 DOI 10.1210/jcem.87.7.8674 http://dx.doi.org/10.1210/jcem.87.7.8674 DOI 10.1378/chest.08-2246 http://dx.doi.org/10.1378/chest.08-2246 DrugBank DB00384 http://www.drugbank.ca/drugs/DB00384 DrugBank DB00594 http://www.drugbank.ca/drugs/DB00594 EMBL AF356493 http://www.ebi.ac.uk/ena/data/view/AF356493 EMBL AF356494 http://www.ebi.ac.uk/ena/data/view/AF356494 EMBL AF356495 http://www.ebi.ac.uk/ena/data/view/AF356495 EMBL AF356496 http://www.ebi.ac.uk/ena/data/view/AF356496 EMBL AF356497 http://www.ebi.ac.uk/ena/data/view/AF356497 EMBL AF356498 http://www.ebi.ac.uk/ena/data/view/AF356498 EMBL AF356499 http://www.ebi.ac.uk/ena/data/view/AF356499 EMBL AF356500 http://www.ebi.ac.uk/ena/data/view/AF356500 EMBL AF356501 http://www.ebi.ac.uk/ena/data/view/AF356501 EMBL AF356502 http://www.ebi.ac.uk/ena/data/view/AF356502 EMBL BC059391 http://www.ebi.ac.uk/ena/data/view/BC059391 EMBL BC069652 http://www.ebi.ac.uk/ena/data/view/BC069652 EMBL L36592 http://www.ebi.ac.uk/ena/data/view/L36592 EMBL U35630 http://www.ebi.ac.uk/ena/data/view/U35630 EMBL U48936 http://www.ebi.ac.uk/ena/data/view/U48936 EMBL U53836 http://www.ebi.ac.uk/ena/data/view/U53836 EMBL U53837 http://www.ebi.ac.uk/ena/data/view/U53837 EMBL U53841 http://www.ebi.ac.uk/ena/data/view/U53841 EMBL U53844 http://www.ebi.ac.uk/ena/data/view/U53844 EMBL U53845 http://www.ebi.ac.uk/ena/data/view/U53845 EMBL U53846 http://www.ebi.ac.uk/ena/data/view/U53846 EMBL U53847 http://www.ebi.ac.uk/ena/data/view/U53847 EMBL U53850 http://www.ebi.ac.uk/ena/data/view/U53850 EMBL U53852 http://www.ebi.ac.uk/ena/data/view/U53852 EMBL X87160 http://www.ebi.ac.uk/ena/data/view/X87160 Ensembl ENST00000300061 http://www.ensembl.org/id/ENST00000300061 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0009897 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009897 GO_component GO:0016324 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324 GO_component GO:0034706 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034706 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0005216 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005216 GO_function GO:0005272 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005272 GO_function GO:0015280 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015280 GO_function GO:0050699 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050699 GO_process GO:0006814 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006814 GO_process GO:0007588 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007588 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0035725 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035725 GO_process GO:0050891 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050891 GO_process GO:0050896 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050896 GO_process GO:0050909 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050909 GO_process GO:0055078 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055078 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SCNN1G http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SCNN1G GeneID 6340 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6340 GeneTree ENSGT00760000119120 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119120 HGNC HGNC:10602 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10602 HOVERGEN HBG058435 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG058435&db=HOVERGEN InParanoid P51170 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P51170 IntAct P51170 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P51170* InterPro IPR001873 http://www.ebi.ac.uk/interpro/entry/IPR001873 InterPro IPR004724 http://www.ebi.ac.uk/interpro/entry/IPR004724 InterPro IPR020903 http://www.ebi.ac.uk/interpro/entry/IPR020903 Jabion 6340 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6340 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Disease H00242 http://www.genome.jp/dbget-bin/www_bget?H00242 KEGG_Disease H00243 http://www.genome.jp/dbget-bin/www_bget?H00243 KEGG_Disease H00892 http://www.genome.jp/dbget-bin/www_bget?H00892 KEGG_Disease H01633 http://www.genome.jp/dbget-bin/www_bget?H01633 KEGG_Gene hsa:6340 http://www.genome.jp/dbget-bin/www_bget?hsa:6340 KEGG_Orthology KO:K04827 http://www.genome.jp/dbget-bin/www_bget?KO:K04827 KEGG_Pathway ko04742 http://www.genome.jp/kegg-bin/show_pathway?ko04742 KEGG_Pathway ko04960 http://www.genome.jp/kegg-bin/show_pathway?ko04960 MIM 177200 http://www.ncbi.nlm.nih.gov/omim/177200 MIM 600761 http://www.ncbi.nlm.nih.gov/omim/600761 MIM 613071 http://www.ncbi.nlm.nih.gov/omim/613071 MINT MINT-198604 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-198604 OMA NWMYCYY http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=NWMYCYY Orphanet 171876 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=171876 Orphanet 526 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=526 Orphanet 60033 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=60033 OrthoDB EOG091G0KW6 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0KW6 PANTHER PTHR11690 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11690 PRINTS PR01078 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01078 PROSITE PS01206 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS01206 PSORT swissprot:SCNNG_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SCNNG_HUMAN PSORT-B swissprot:SCNNG_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SCNNG_HUMAN PSORT2 swissprot:SCNNG_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SCNNG_HUMAN Pfam PF00858 http://pfam.xfam.org/family/PF00858 PharmGKB PA307 http://www.pharmgkb.org/do/serve?objId=PA307&objCls=Gene Phobius swissprot:SCNNG_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SCNNG_HUMAN PhylomeDB P51170 http://phylomedb.org/?seqid=P51170 ProteinModelPortal P51170 http://www.proteinmodelportal.org/query/uniprot/P51170 PubMed 10391210 http://www.ncbi.nlm.nih.gov/pubmed/10391210 PubMed 10404817 http://www.ncbi.nlm.nih.gov/pubmed/10404817 PubMed 11244092 http://www.ncbi.nlm.nih.gov/pubmed/11244092 PubMed 12107247 http://www.ncbi.nlm.nih.gov/pubmed/12107247 PubMed 12167593 http://www.ncbi.nlm.nih.gov/pubmed/12167593 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16959974 http://www.ncbi.nlm.nih.gov/pubmed/16959974 PubMed 18507830 http://www.ncbi.nlm.nih.gov/pubmed/18507830 PubMed 18650438 http://www.ncbi.nlm.nih.gov/pubmed/18650438 PubMed 19017867 http://www.ncbi.nlm.nih.gov/pubmed/19017867 PubMed 22207244 http://www.ncbi.nlm.nih.gov/pubmed/22207244 PubMed 22493497 http://www.ncbi.nlm.nih.gov/pubmed/22493497 PubMed 23547933 http://www.ncbi.nlm.nih.gov/pubmed/23547933 PubMed 24124190 http://www.ncbi.nlm.nih.gov/pubmed/24124190 PubMed 26772908 http://www.ncbi.nlm.nih.gov/pubmed/26772908 PubMed 7490094 http://www.ncbi.nlm.nih.gov/pubmed/7490094 PubMed 7550319 http://www.ncbi.nlm.nih.gov/pubmed/7550319 PubMed 7762608 http://www.ncbi.nlm.nih.gov/pubmed/7762608 PubMed 8824247 http://www.ncbi.nlm.nih.gov/pubmed/8824247 PubMed 9169421 http://www.ncbi.nlm.nih.gov/pubmed/9169421 Reactome R-HSA-2672351 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2672351 RefSeq NP_001030 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001030 STRING 9606.ENSP00000300061 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000300061&targetmode=cogs TCDB 1.A.6.1 http://www.tcdb.org/search/result.php?tc=1.A.6.1 TIGRFAMs TIGR00859 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00859 UCSC uc002dlm http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002dlm&org=rat UniGene Hs.371727 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.371727 UniProtKB SCNNG_HUMAN http://www.uniprot.org/uniprot/SCNNG_HUMAN UniProtKB-AC P51170 http://www.uniprot.org/uniprot/P51170 charge swissprot:SCNNG_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SCNNG_HUMAN eggNOG ENOG410ZNFK http://eggnogapi.embl.de/nog_data/html/tree/ENOG410ZNFK eggNOG KOG4294 http://eggnogapi.embl.de/nog_data/html/tree/KOG4294 epestfind swissprot:SCNNG_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SCNNG_HUMAN garnier swissprot:SCNNG_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SCNNG_HUMAN helixturnhelix swissprot:SCNNG_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SCNNG_HUMAN hmoment swissprot:SCNNG_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SCNNG_HUMAN iep swissprot:SCNNG_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SCNNG_HUMAN inforesidue swissprot:SCNNG_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SCNNG_HUMAN neXtProt NX_P51170 http://www.nextprot.org/db/entry/NX_P51170 octanol swissprot:SCNNG_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SCNNG_HUMAN pepcoil swissprot:SCNNG_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SCNNG_HUMAN pepdigest swissprot:SCNNG_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SCNNG_HUMAN pepinfo swissprot:SCNNG_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SCNNG_HUMAN pepnet swissprot:SCNNG_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SCNNG_HUMAN pepstats swissprot:SCNNG_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SCNNG_HUMAN pepwheel swissprot:SCNNG_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SCNNG_HUMAN pepwindow swissprot:SCNNG_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SCNNG_HUMAN sigcleave swissprot:SCNNG_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SCNNG_HUMAN ## Database ID URL or Descriptions # AltName GBRA5_HUMAN GABA(A) receptor subunit alpha-5 # DrugBank DB00186 Lorazepam # DrugBank DB00189 Ethchlorvynol # DrugBank DB00228 Enflurane # DrugBank DB00231 Temazepam # DrugBank DB00237 Butabarbital # DrugBank DB00241 Butalbital # DrugBank DB00273 Topiramate # DrugBank DB00292 Etomidate # DrugBank DB00306 Talbutal # DrugBank DB00312 Pentobarbital # DrugBank DB00334 Olanzapine # DrugBank DB00349 Clobazam # DrugBank DB00371 Meprobamate # DrugBank DB00402 Eszopiclone # DrugBank DB00404 Alprazolam # DrugBank DB00418 Secobarbital # DrugBank DB00475 Chlordiazepoxide # DrugBank DB00543 Amoxapine # DrugBank DB00546 Adinazolam # DrugBank DB00599 Thiopental # DrugBank DB00628 Clorazepate # DrugBank DB00659 Acamprosate # DrugBank DB00683 Midazolam # DrugBank DB00690 Flurazepam # DrugBank DB00753 Isoflurane # DrugBank DB00794 Primidone # DrugBank DB00801 Halazepam # DrugBank DB00818 Propofol # DrugBank DB00829 Diazepam # DrugBank DB00842 Oxazepam # DrugBank DB00849 Methylphenobarbital # DrugBank DB00897 Triazolam # DrugBank DB00898 Ethanol # DrugBank DB01028 Methoxyflurane # DrugBank DB01049 Ergoloid mesylate # DrugBank DB01068 Clonazepam # DrugBank DB01107 Methyprylon # DrugBank DB01159 Halothane # DrugBank DB01189 Desflurane # DrugBank DB01198 Zopiclone # DrugBank DB01205 Flumazenil # DrugBank DB01215 Estazolam # DrugBank DB01236 Sevoflurane # DrugBank DB01351 Amobarbital # DrugBank DB01352 Aprobarbital # DrugBank DB01353 Butethal # DrugBank DB01354 Heptabarbital # DrugBank DB01355 Hexobarbital # DrugBank DB01437 Glutethimide # DrugBank DB01544 Flunitrazepam # DrugBank DB01558 Bromazepam # DrugBank DB01559 Clotiazepam # DrugBank DB01567 Fludiazepam # DrugBank DB01588 Prazepam # DrugBank DB01589 Quazepam # DrugBank DB01594 Cinolazepam # DrugBank DB01595 Nitrazepam # Ensembl ENST00000335625 ENSP00000335592; ENSG00000186297 # Ensembl ENST00000355395 ENSP00000347557; ENSG00000186297 # Ensembl ENST00000400081 ENSP00000382953; ENSG00000186297 # ExpressionAtlas P31644 baseline and differential # FUNCTION GBRA5_HUMAN GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0030425 dendrite; IEA:Ensembl. # GO_component GO:0032809 neuronal cell body membrane; IEA:Ensembl. # GO_component GO:0034707 chloride channel complex; IEA:UniProtKB-KW. # GO_component GO:0045211 postsynaptic membrane; IEA:UniProtKB-SubCell. # GO_component GO:1902711 GABA-A receptor complex; IBA:GO_Central. # GO_function GO:0004872 receptor activity; TAS:ProtInc. # GO_function GO:0004890 GABA-A receptor activity; IEA:Ensembl. # GO_function GO:0005215 transporter activity; TAS:ProtInc. # GO_function GO:0005230 extracellular ligand-gated ion channel activity; IEA:InterPro. # GO_function GO:0005254 chloride channel activity; IEA:UniProtKB-KW. # GO_process GO:0001662 behavioral fear response; IEA:Ensembl. # GO_process GO:0006810 transport; TAS:ProtInc. # GO_process GO:0007165 signal transduction; TAS:ProtInc. # GO_process GO:0007214 gamma-aminobutyric acid signaling pathway; IEA:InterPro. # GO_process GO:0007268 chemical synaptic transmission; IEA:Ensembl. # GO_process GO:0007420 brain development; IEA:Ensembl. # GO_process GO:0007605 sensory perception of sound; IEA:Ensembl. # GO_process GO:0008306 associative learning; IEA:Ensembl. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0043524 negative regulation of neuron apoptotic process; IEA:Ensembl. # GO_process GO:0060119 inner ear receptor cell development; IEA:Ensembl. # GO_process GO:0060384 innervation; IEA:Ensembl. # GO_process GO:0090102 cochlea development; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0007267 cell-cell signaling # GOslim_process GO:0008150 biological_process # GOslim_process GO:0048856 anatomical structure development # GOslim_process GO:0050877 neurological system process # GOslim_process GO:0055085 transmembrane transport # Gene3D 2.70.170.10 -; 1. # Genevisible P31644 HS # HGNC HGNC:4079 GABRA5 # InterPro IPR001390 GABAAa_rcpt # InterPro IPR005435 GABBAa5_rcpt # InterPro IPR006028 GABAA/Glycine_rcpt # InterPro IPR006029 Neurotrans-gated_channel_TM # InterPro IPR006201 Neur_channel # InterPro IPR006202 Neur_chan_lig-bd # InterPro IPR018000 Neurotransmitter_ion_chnl_CS # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04080 Neuroactive ligand-receptor interaction # KEGG_Pathway ko04723 Retrograde endocannabinoid signaling # KEGG_Pathway ko04727 GABAergic synapse # KEGG_Pathway ko05032 Morphine addiction # KEGG_Pathway ko05033 Nicotine addiction # MIM 137142 gene # Organism GBRA5_HUMAN Homo sapiens (Human) # PANTHER PTHR18945 PTHR18945 # PIR A48933 A48933 # PRINTS PR00252 NRIONCHANNEL # PRINTS PR00253 GABAARECEPTR # PRINTS PR01079 GABAARALPHA # PRINTS PR01618 GABAARALPHA5 # PROSITE PS00236 NEUROTR_ION_CHANNEL # Pfam PF02931 Neur_chan_LBD # Pfam PF02932 Neur_chan_memb # Proteomes UP000005640 Chromosome 15 # Reactome R-HSA-112314 Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell # Reactome R-HSA-975298 Ligand-gated ion channel transport # Reactome R-HSA-977441 GABA A receptor activation # RecName GBRA5_HUMAN Gamma-aminobutyric acid receptor subunit alpha-5 # RefSeq NP_000801 NM_000810.3 # RefSeq NP_001158509 NM_001165037.1 # RefSeq XP_005268315 XM_005268258.2 # RefSeq XP_006720522 XM_006720459.2 # SIMILARITY Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRA5 sub-subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION GBRA5_HUMAN Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. # SUBUNIT Generally pentameric. There are five types of GABA(A) receptor chains alpha, beta, gamma, delta, and rho. # SUPFAM SSF63712 SSF63712 # SUPFAM SSF90112 SSF90112 # TIGRFAMs TIGR00860 LIC # UCSC uc001zbd human # WEB RESOURCE GBRA5_HUMAN Name=Protein Spotlight; Note=Forbidden fruit - Issue 56 of March 2005; URL="http //web.expasy.org/spotlight/back_issues/056"; # eggNOG ENOG410XNQG LUCA # eggNOG KOG3642 Eukaryota BLAST swissprot:GBRA5_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:GBRA5_HUMAN BioCyc ZFISH:G66-33773-MONOMER http://biocyc.org/getid?id=ZFISH:G66-33773-MONOMER COXPRESdb 2558 http://coxpresdb.jp/data/gene/2558.shtml CleanEx HS_GABRA5 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_GABRA5 DOI 10.1002/pmic.200600410 http://dx.doi.org/10.1002/pmic.200600410 DOI 10.1006/geno.1997.4770 http://dx.doi.org/10.1006/geno.1997.4770 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1042/bst020018s http://dx.doi.org/10.1042/bst020018s DOI 10.1093/hmg/2.2.183 http://dx.doi.org/10.1093/hmg/2.2.183 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DrugBank DB00186 http://www.drugbank.ca/drugs/DB00186 DrugBank DB00189 http://www.drugbank.ca/drugs/DB00189 DrugBank DB00228 http://www.drugbank.ca/drugs/DB00228 DrugBank DB00231 http://www.drugbank.ca/drugs/DB00231 DrugBank DB00237 http://www.drugbank.ca/drugs/DB00237 DrugBank DB00241 http://www.drugbank.ca/drugs/DB00241 DrugBank DB00273 http://www.drugbank.ca/drugs/DB00273 DrugBank DB00292 http://www.drugbank.ca/drugs/DB00292 DrugBank DB00306 http://www.drugbank.ca/drugs/DB00306 DrugBank DB00312 http://www.drugbank.ca/drugs/DB00312 DrugBank DB00334 http://www.drugbank.ca/drugs/DB00334 DrugBank DB00349 http://www.drugbank.ca/drugs/DB00349 DrugBank DB00371 http://www.drugbank.ca/drugs/DB00371 DrugBank DB00402 http://www.drugbank.ca/drugs/DB00402 DrugBank DB00404 http://www.drugbank.ca/drugs/DB00404 DrugBank DB00418 http://www.drugbank.ca/drugs/DB00418 DrugBank DB00475 http://www.drugbank.ca/drugs/DB00475 DrugBank DB00543 http://www.drugbank.ca/drugs/DB00543 DrugBank DB00546 http://www.drugbank.ca/drugs/DB00546 DrugBank DB00599 http://www.drugbank.ca/drugs/DB00599 DrugBank DB00628 http://www.drugbank.ca/drugs/DB00628 DrugBank DB00659 http://www.drugbank.ca/drugs/DB00659 DrugBank DB00683 http://www.drugbank.ca/drugs/DB00683 DrugBank DB00690 http://www.drugbank.ca/drugs/DB00690 DrugBank DB00753 http://www.drugbank.ca/drugs/DB00753 DrugBank DB00794 http://www.drugbank.ca/drugs/DB00794 DrugBank DB00801 http://www.drugbank.ca/drugs/DB00801 DrugBank DB00818 http://www.drugbank.ca/drugs/DB00818 DrugBank DB00829 http://www.drugbank.ca/drugs/DB00829 DrugBank DB00842 http://www.drugbank.ca/drugs/DB00842 DrugBank DB00849 http://www.drugbank.ca/drugs/DB00849 DrugBank DB00897 http://www.drugbank.ca/drugs/DB00897 DrugBank DB00898 http://www.drugbank.ca/drugs/DB00898 DrugBank DB01028 http://www.drugbank.ca/drugs/DB01028 DrugBank DB01049 http://www.drugbank.ca/drugs/DB01049 DrugBank DB01068 http://www.drugbank.ca/drugs/DB01068 DrugBank DB01107 http://www.drugbank.ca/drugs/DB01107 DrugBank DB01159 http://www.drugbank.ca/drugs/DB01159 DrugBank DB01189 http://www.drugbank.ca/drugs/DB01189 DrugBank DB01198 http://www.drugbank.ca/drugs/DB01198 DrugBank DB01205 http://www.drugbank.ca/drugs/DB01205 DrugBank DB01215 http://www.drugbank.ca/drugs/DB01215 DrugBank DB01236 http://www.drugbank.ca/drugs/DB01236 DrugBank DB01351 http://www.drugbank.ca/drugs/DB01351 DrugBank DB01352 http://www.drugbank.ca/drugs/DB01352 DrugBank DB01353 http://www.drugbank.ca/drugs/DB01353 DrugBank DB01354 http://www.drugbank.ca/drugs/DB01354 DrugBank DB01355 http://www.drugbank.ca/drugs/DB01355 DrugBank DB01437 http://www.drugbank.ca/drugs/DB01437 DrugBank DB01544 http://www.drugbank.ca/drugs/DB01544 DrugBank DB01558 http://www.drugbank.ca/drugs/DB01558 DrugBank DB01559 http://www.drugbank.ca/drugs/DB01559 DrugBank DB01567 http://www.drugbank.ca/drugs/DB01567 DrugBank DB01588 http://www.drugbank.ca/drugs/DB01588 DrugBank DB01589 http://www.drugbank.ca/drugs/DB01589 DrugBank DB01594 http://www.drugbank.ca/drugs/DB01594 DrugBank DB01595 http://www.drugbank.ca/drugs/DB01595 EMBL AF061785 http://www.ebi.ac.uk/ena/data/view/AF061785 EMBL AF228447 http://www.ebi.ac.uk/ena/data/view/AF228447 EMBL AF228448 http://www.ebi.ac.uk/ena/data/view/AF228448 EMBL AF228449 http://www.ebi.ac.uk/ena/data/view/AF228449 EMBL AK290453 http://www.ebi.ac.uk/ena/data/view/AK290453 EMBL BC111979 http://www.ebi.ac.uk/ena/data/view/BC111979 EMBL BC113422 http://www.ebi.ac.uk/ena/data/view/BC113422 EMBL BT009830 http://www.ebi.ac.uk/ena/data/view/BT009830 EMBL L08485 http://www.ebi.ac.uk/ena/data/view/L08485 Ensembl ENST00000335625 http://www.ensembl.org/id/ENST00000335625 Ensembl ENST00000355395 http://www.ensembl.org/id/ENST00000355395 Ensembl ENST00000400081 http://www.ensembl.org/id/ENST00000400081 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0030425 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030425 GO_component GO:0032809 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032809 GO_component GO:0034707 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034707 GO_component GO:0045211 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045211 GO_component GO:1902711 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902711 GO_function GO:0004872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004872 GO_function GO:0004890 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004890 GO_function GO:0005215 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005215 GO_function GO:0005230 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005230 GO_function GO:0005254 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005254 GO_process GO:0001662 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001662 GO_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GO_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GO_process GO:0007214 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007214 GO_process GO:0007268 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007268 GO_process GO:0007420 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007420 GO_process GO:0007605 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007605 GO_process GO:0008306 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008306 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0043524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043524 GO_process GO:0060119 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060119 GO_process GO:0060384 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060384 GO_process GO:0090102 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090102 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0004871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0007267 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0048856 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 Gene3D 2.70.170.10 http://www.cathdb.info/version/latest/superfamily/2.70.170.10 GeneCards GABRA5 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=GABRA5 GeneID 2558 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=2558 GeneTree ENSGT00760000119010 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119010 HGNC HGNC:4079 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:4079 HOGENOM HOG000231337 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231337&db=HOGENOM6 HOVERGEN HBG051707 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG051707&db=HOVERGEN InParanoid P31644 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P31644 InterPro IPR001390 http://www.ebi.ac.uk/interpro/entry/IPR001390 InterPro IPR005435 http://www.ebi.ac.uk/interpro/entry/IPR005435 InterPro IPR006028 http://www.ebi.ac.uk/interpro/entry/IPR006028 InterPro IPR006029 http://www.ebi.ac.uk/interpro/entry/IPR006029 InterPro IPR006201 http://www.ebi.ac.uk/interpro/entry/IPR006201 InterPro IPR006202 http://www.ebi.ac.uk/interpro/entry/IPR006202 InterPro IPR018000 http://www.ebi.ac.uk/interpro/entry/IPR018000 Jabion 2558 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=2558 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:2558 http://www.genome.jp/dbget-bin/www_bget?hsa:2558 KEGG_Orthology KO:K05175 http://www.genome.jp/dbget-bin/www_bget?KO:K05175 KEGG_Pathway ko04080 http://www.genome.jp/kegg-bin/show_pathway?ko04080 KEGG_Pathway ko04723 http://www.genome.jp/kegg-bin/show_pathway?ko04723 KEGG_Pathway ko04727 http://www.genome.jp/kegg-bin/show_pathway?ko04727 KEGG_Pathway ko05032 http://www.genome.jp/kegg-bin/show_pathway?ko05032 KEGG_Pathway ko05033 http://www.genome.jp/kegg-bin/show_pathway?ko05033 MIM 137142 http://www.ncbi.nlm.nih.gov/omim/137142 OMA WDGKKAS http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=WDGKKAS OrthoDB EOG091G0805 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0805 PANTHER PTHR18945 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR18945 PRINTS PR00252 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00252 PRINTS PR00253 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00253 PRINTS PR01079 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01079 PRINTS PR01618 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01618 PROSITE PS00236 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00236 PSORT swissprot:GBRA5_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:GBRA5_HUMAN PSORT-B swissprot:GBRA5_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:GBRA5_HUMAN PSORT2 swissprot:GBRA5_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:GBRA5_HUMAN Pfam PF02931 http://pfam.xfam.org/family/PF02931 Pfam PF02932 http://pfam.xfam.org/family/PF02932 PharmGKB PA28493 http://www.pharmgkb.org/do/serve?objId=PA28493&objCls=Gene Phobius swissprot:GBRA5_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:GBRA5_HUMAN PhylomeDB P31644 http://phylomedb.org/?seqid=P31644 ProteinModelPortal P31644 http://www.proteinmodelportal.org/query/uniprot/P31644 PubMed 1321750 http://www.ncbi.nlm.nih.gov/pubmed/1321750 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 17370265 http://www.ncbi.nlm.nih.gov/pubmed/17370265 PubMed 8388764 http://www.ncbi.nlm.nih.gov/pubmed/8388764 PubMed 9205108 http://www.ncbi.nlm.nih.gov/pubmed/9205108 Reactome R-HSA-112314 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-112314 Reactome R-HSA-975298 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-975298 Reactome R-HSA-977441 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-977441 RefSeq NP_000801 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000801 RefSeq NP_001158509 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001158509 RefSeq XP_005268315 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005268315 RefSeq XP_006720522 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006720522 STRING 9606.ENSP00000335592 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000335592&targetmode=cogs SUPFAM SSF63712 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF63712 SUPFAM SSF90112 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF90112 TIGRFAMs TIGR00860 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00860 UCSC uc001zbd http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001zbd&org=rat UniGene Hs.24969 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.24969 UniProtKB GBRA5_HUMAN http://www.uniprot.org/uniprot/GBRA5_HUMAN UniProtKB-AC P31644 http://www.uniprot.org/uniprot/P31644 charge swissprot:GBRA5_HUMAN http://rest.g-language.org/emboss/charge/swissprot:GBRA5_HUMAN eggNOG ENOG410XNQG http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XNQG eggNOG KOG3642 http://eggnogapi.embl.de/nog_data/html/tree/KOG3642 epestfind swissprot:GBRA5_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:GBRA5_HUMAN garnier swissprot:GBRA5_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:GBRA5_HUMAN helixturnhelix swissprot:GBRA5_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:GBRA5_HUMAN hmoment swissprot:GBRA5_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:GBRA5_HUMAN iep swissprot:GBRA5_HUMAN http://rest.g-language.org/emboss/iep/swissprot:GBRA5_HUMAN inforesidue swissprot:GBRA5_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:GBRA5_HUMAN neXtProt NX_P31644 http://www.nextprot.org/db/entry/NX_P31644 octanol swissprot:GBRA5_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:GBRA5_HUMAN pepcoil swissprot:GBRA5_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:GBRA5_HUMAN pepdigest swissprot:GBRA5_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:GBRA5_HUMAN pepinfo swissprot:GBRA5_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:GBRA5_HUMAN pepnet swissprot:GBRA5_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:GBRA5_HUMAN pepstats swissprot:GBRA5_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:GBRA5_HUMAN pepwheel swissprot:GBRA5_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:GBRA5_HUMAN pepwindow swissprot:GBRA5_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:GBRA5_HUMAN sigcleave swissprot:GBRA5_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:GBRA5_HUMAN ## Database ID URL or Descriptions # AltName Creatine transporter 2 {ECO:0000303|PubMed 23578822} # AltName MOT12_HUMAN Solute carrier family 16 member 12 # CDD cd06174 MFS # DISEASE MOT12_HUMAN Cataract 47 (CTRCT47) [MIM 612018] A form of cataract, an opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT47 is characterized by the association of cataract with microcornea and renal glucosuria. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye. Renal glucosuria is defined by elevated glucose level in the urine without hyperglycemia and without evidence of morphological renal anomalies. {ECO 0000269|PubMed 18304496}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000341233 ENSP00000343022; ENSG00000152779 # FUNCTION MOT12_HUMAN Proton-linked monocarboxylate transporter that mediates creatine transport across the plasma membrane. {ECO 0000269|PubMed 23578822}. # GO_component GO:0005887 integral component of plasma membrane; IDA:UniProtKB. # GO_function GO:0005308 creatine transmembrane transporter activity; IDA:UniProtKB. # GO_function GO:0015129 lactate transmembrane transporter activity; IBA:GO_Central. # GO_function GO:0015293 symporter activity; IEA:UniProtKB-KW. # GO_process GO:0035879 plasma membrane lactate transport; IBA:GO_Central. # GO_process GO:1902598 creatine transmembrane transport; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0055085 transmembrane transport # HGNC HGNC:23094 SLC16A12 # InterPro IPR011701 MFS # InterPro IPR020846 MFS_dom # KEGG_Brite ko02000 Transporters # KEGG_Brite ko02001 Solute carrier family # KEGG_Disease H01202 [Eye disease] Cataract # MIM 611910 gene # MIM 612018 phenotype # Organism MOT12_HUMAN Homo sapiens (Human) # Orphanet 247794 Juvenile cataract - microcornea - renal glucosuria # PROSITE PS50850 MFS # Pfam PF07690 MFS_1 # Proteomes UP000005640 Unplaced # RecName MOT12_HUMAN Monocarboxylate transporter 12 # RefSeq NP_998771 NM_213606.3 # SEQUENCE CAUTION Sequence=BAC85987.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the major facilitator superfamily. Monocarboxylate porter (TC 2.A.1.13) family. {ECO 0000305}. # SUBCELLULAR LOCATION MOT12_HUMAN Cell membrane {ECO 0000269|PubMed 23578822}; Multi-pass membrane protein {ECO 0000255, ECO 0000305}. # SUPFAM SSF103473 SSF103473; 2 # TCDB 2.A.1.13.14 the major facilitator superfamily (mfs) # TISSUE SPECIFICITY MOT12_HUMAN Most highly expressed in kidney, followed by retina, lung, heart and testis. Very weakly expressed in brain and liver. Also detected in lens. {ECO 0000269|PubMed 18304496, ECO 0000269|PubMed 23578822}. # eggNOG COG0477 LUCA # eggNOG KOG2504 Eukaryota BLAST swissprot:MOT12_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:MOT12_HUMAN BioCyc ZFISH:ENSG00000152779-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000152779-MONOMER COXPRESdb 387700 http://coxpresdb.jp/data/gene/387700.shtml CleanEx HS_SLC16A12 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC16A12 DOI 10.1016/j.ajhg.2007.12.013 http://dx.doi.org/10.1016/j.ajhg.2007.12.013 DOI 10.1038/nature02462 http://dx.doi.org/10.1038/nature02462 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1093/hmg/ddt175 http://dx.doi.org/10.1093/hmg/ddt175 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AK124901 http://www.ebi.ac.uk/ena/data/view/AK124901 EMBL AK127303 http://www.ebi.ac.uk/ena/data/view/AK127303 EMBL AL353146 http://www.ebi.ac.uk/ena/data/view/AL353146 EMBL BC086873 http://www.ebi.ac.uk/ena/data/view/BC086873 Ensembl ENST00000341233 http://www.ensembl.org/id/ENST00000341233 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887 GO_function GO:0005308 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005308 GO_function GO:0015129 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015129 GO_function GO:0015293 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015293 GO_process GO:0035879 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035879 GO_process GO:1902598 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902598 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards SLC16A12 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC16A12 GeneID 387700 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=387700 HGNC HGNC:23094 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:23094 HOGENOM HOG000280688 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000280688&db=HOGENOM6 HOVERGEN HBG097674 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG097674&db=HOVERGEN HPA HPA037587 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA037587 InParanoid Q6ZSM3 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q6ZSM3 InterPro IPR011701 http://www.ebi.ac.uk/interpro/entry/IPR011701 InterPro IPR020846 http://www.ebi.ac.uk/interpro/entry/IPR020846 Jabion 387700 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=387700 KEGG_Brite ko02000 http://www.genome.jp/dbget-bin/www_bget?ko02000 KEGG_Brite ko02001 http://www.genome.jp/dbget-bin/www_bget?ko02001 KEGG_Disease H01202 http://www.genome.jp/dbget-bin/www_bget?H01202 KEGG_Gene hsa:387700 http://www.genome.jp/dbget-bin/www_bget?hsa:387700 KEGG_Orthology KO:K11810 http://www.genome.jp/dbget-bin/www_bget?KO:K11810 MIM 611910 http://www.ncbi.nlm.nih.gov/omim/611910 MIM 612018 http://www.ncbi.nlm.nih.gov/omim/612018 Orphanet 247794 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=247794 PROSITE PS50850 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850 PSORT swissprot:MOT12_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:MOT12_HUMAN PSORT-B swissprot:MOT12_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:MOT12_HUMAN PSORT2 swissprot:MOT12_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:MOT12_HUMAN Pfam PF07690 http://pfam.xfam.org/family/PF07690 PharmGKB PA134969386 http://www.pharmgkb.org/do/serve?objId=PA134969386&objCls=Gene Phobius swissprot:MOT12_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:MOT12_HUMAN PhylomeDB Q6ZSM3 http://phylomedb.org/?seqid=Q6ZSM3 ProteinModelPortal Q6ZSM3 http://www.proteinmodelportal.org/query/uniprot/Q6ZSM3 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15164054 http://www.ncbi.nlm.nih.gov/pubmed/15164054 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 18304496 http://www.ncbi.nlm.nih.gov/pubmed/18304496 PubMed 23578822 http://www.ncbi.nlm.nih.gov/pubmed/23578822 RefSeq NP_998771 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_998771 STRING 9606.ENSP00000360855 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000360855&targetmode=cogs SUPFAM SSF103473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473 TCDB 2.A.1.13.14 http://www.tcdb.org/search/result.php?tc=2.A.1.13.14 UniGene Hs.530338 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.530338 UniProtKB MOT12_HUMAN http://www.uniprot.org/uniprot/MOT12_HUMAN UniProtKB-AC Q6ZSM3 http://www.uniprot.org/uniprot/Q6ZSM3 charge swissprot:MOT12_HUMAN http://rest.g-language.org/emboss/charge/swissprot:MOT12_HUMAN eggNOG COG0477 http://eggnogapi.embl.de/nog_data/html/tree/COG0477 eggNOG KOG2504 http://eggnogapi.embl.de/nog_data/html/tree/KOG2504 epestfind swissprot:MOT12_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:MOT12_HUMAN garnier swissprot:MOT12_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:MOT12_HUMAN helixturnhelix swissprot:MOT12_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:MOT12_HUMAN hmoment swissprot:MOT12_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:MOT12_HUMAN iep swissprot:MOT12_HUMAN http://rest.g-language.org/emboss/iep/swissprot:MOT12_HUMAN inforesidue swissprot:MOT12_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:MOT12_HUMAN neXtProt NX_Q6ZSM3 http://www.nextprot.org/db/entry/NX_Q6ZSM3 octanol swissprot:MOT12_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:MOT12_HUMAN pepcoil swissprot:MOT12_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:MOT12_HUMAN pepdigest swissprot:MOT12_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:MOT12_HUMAN pepinfo swissprot:MOT12_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:MOT12_HUMAN pepnet swissprot:MOT12_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:MOT12_HUMAN pepstats swissprot:MOT12_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:MOT12_HUMAN pepwheel swissprot:MOT12_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:MOT12_HUMAN pepwindow swissprot:MOT12_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:MOT12_HUMAN sigcleave swissprot:MOT12_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:MOT12_HUMAN ## Database ID URL or Descriptions # AltName Delayed rectifier potassium channel 1 {ECO:0000303|PubMed 8081723} # AltName Voltage-gated potassium channel subunit Kv2.1 {ECO:0000303|PubMed 8081723} # BIOPHYSICOCHEMICAL PROPERTIES KCNB1_HUMAN Kinetic parameters Note=Homotetrameric channels expressed in xenopus oocytes or in mammalian non-neuronal cells display delayed-rectifier voltage- dependent potassium currents which are activated during membrane depolarization, i.e within a risetime of about 20 msec (PubMed 8081723, PubMed 1283219). After that, inactivate very slowly, i.e within more than 5 sec (PubMed 8081723, PubMed 1283219). Their activation requires low threshold potentials of about -20 to -30 mV, with a midpoint activation at about 10 mV. For inactivation, the voltage at half-maximal amplitude is about -20 mV (PubMed 11852086). The time constant for recovery after inactivation is about 1.6 sec. Channels have an unitary conductance of about 8 pS (PubMed 10484328). The voltage-dependence of activation and inactivation and other channel characteristics vary depending on the experimental conditions, the expression system, the presence or absence of ancillary subunits and post-translational modifications. {ECO 0000250|UniProtKB P15387, ECO 0000269|PubMed 10484328, ECO 0000269|PubMed 11852086, ECO 0000269|PubMed 1283219, ECO 0000269|PubMed 8081723, ECO 0000305|PubMed 10414301, ECO 0000305|PubMed 15858231}; # BioGrid 109947 15 # DISEASE KCNB1_HUMAN Epileptic encephalopathy, early infantile, 26 (EIEE26) [MIM 616056] A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE26 patients manifest multiple types of seizures, delayed psychomotor development, poor or absent speech, hypotonia, hypsarrhythmia. {ECO 0000269|PubMed 25164438, ECO 0000269|PubMed 26477325, ECO 0000269|PubMed 26503721}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DOMAIN KCNB1_HUMAN The N-terminal and C-terminal cytoplasmic regions mediate homooligomerization; self-association is required to regulate trafficking, gating and C-terminal phosphorylation-dependent modulation of the channel (PubMed 11852086, PubMed 12060745, PubMed 12560340, PubMed 19074135, PubMed 24901643). The N-terminal cytoplasmic region is important for interaction with other channel-forming alpha subunits and with ancillary beta subunits (PubMed 24901643). The C-terminus is necessary and sufficient for the restricted localization to, and clustering within, both in soma and proximal portions of dendrite of neurons and in lateral membrane of non-neuronal polarized cells. The C-terminus is both necessary and sufficient as a mediator of cholinergic and calcium- stimulated modulation of channel cell membrane clustering localization and activity in hippocampal neurons (By similarity). {ECO 0000250|UniProtKB P15387, ECO 0000269|PubMed 11852086, ECO 0000269|PubMed 12060745, ECO 0000269|PubMed 12560340, ECO 0000269|PubMed 19074135, ECO 0000269|PubMed 24901643}. # DOMAIN KCNB1_HUMAN The transmembrane segment S4 functions as voltage-sensor and is characterized by a series of positively charged amino acids at every third position. Channel opening and closing is effected by a conformation change that affects the position and orientation of the voltage-sensor paddle formed by S3 and S4 within the membrane. A transmembrane electric field that is positive inside would push the positively charged S4 segment outwards, thereby opening the pore, while a field that is negative inside would pull the S4 segment inwards and close the pore. Changes in the position and orientation of S4 are then transmitted to the activation gate formed by the inner helix bundle via the S4-S5 linker region. {ECO 0000250|UniProtKB P63142}. # DrugBank DB06637 Dalfampridine # ENZYME REGULATION KCNB1_HUMAN Inhibited by 12.7 nM stromatoxin 1 (ScTx1), a spider venom toxin of the tarantula S.calceata (PubMed 14565763). Inhibited by 42 nM hanatoxin 1 (HaTx1), a spider venom toxin of the tarantula G.spatulata (PubMed 14565763). Modestly sensitive to millimolar levels of tetraethylammonium (TEA) (PubMed 8081723, PubMed 1283219). Modestly sensitive to millimolar levels of 4- aminopyridine (4-AP). Completely insensitive to toxins such as dendrotoxin (DTX) and charybdotoxin (CTX) (By similarity). {ECO 0000250|UniProtKB P15387, ECO 0000269|PubMed 1283219, ECO 0000269|PubMed 14565763, ECO 0000269|PubMed 8081723, ECO 0000305|PubMed 10414301, ECO 0000305|PubMed 15858231}. # Ensembl ENST00000371741 ENSP00000360806; ENSG00000158445 # Ensembl ENST00000635465 ENSP00000489193; ENSG00000158445 # FUNCTION KCNB1_HUMAN Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes, primarily in the brain, but also in the pancreas and cardiovascular system. Contributes to the regulation of the action potential (AP) repolarization, duration and frequency of repetitive AP firing in neurons, muscle cells and endocrine cells and plays a role in homeostatic attenuation of electrical excitability throughout the brain (PubMed 23161216). Plays also a role in the regulation of exocytosis independently of its electrical function (By similarity). Forms tetrameric potassium- selective channels through which potassium ions pass in accordance with their electrochemical gradient. The channel alternates between opened and closed conformations in response to the voltage difference across the membrane. Homotetrameric channels mediate a delayed-rectifier voltage-dependent outward potassium current that display rapid activation and slow inactivation in response to membrane depolarization (PubMed 8081723, PubMed 1283219, PubMed 10484328, PubMed 12560340, PubMed 19074135, PubMed 19717558, PubMed 24901643). Can form functional homotetrameric and heterotetrameric channels that contain variable proportions of KCNB2; channel properties depend on the type of alpha subunits that are part of the channel (By similarity). Can also form functional heterotetrameric channels with other alpha subunits that are non-conducting when expressed alone, such as KCNF1, KCNG1, KCNG3, KCNG4, KCNH1, KCNH2, KCNS1, KCNS2, KCNS3 and KCNV1, creating a functionally diverse range of channel complexes (PubMed 10484328, PubMed 11852086, PubMed 12060745, PubMed 19074135, PubMed 19717558, PubMed 24901643). Heterotetrameric channel activity formed with KCNS3 show increased current amplitude with the threshold for action potential activation shifted towards more negative values in hypoxic-treated pulmonary artery smooth muscle cells (By similarity). Channel properties are also modulated by cytoplasmic ancillary beta subunits such as AMIGO1, KCNE1, KCNE2 and KCNE3, slowing activation and inactivation rate of the delayed rectifier potassium channels (By similarity). In vivo, membranes probably contain a mixture of heteromeric potassium channel complexes, making it difficult to assign currents observed in intact tissues to any particular potassium channel family member. Major contributor to the slowly inactivating delayed-rectifier voltage- gated potassium current in neurons of the central nervous system, sympathetic ganglion neurons, neuroendocrine cells, pancreatic beta cells, cardiomyocytes and smooth muscle cells. Mediates the major part of the somatodendritic delayed-rectifier potassium current in hippocampal and cortical pyramidal neurons and sympathetic superior cervical ganglion (CGC) neurons that acts to slow down periods of firing, especially during high frequency stimulation. Plays a role in the induction of long-term potentiation (LTP) of neuron excitability in the CA3 layer of the hippocampus (By similarity). Contributes to the regulation of glucose-induced action potential amplitude and duration in pancreatic beta cells, hence limiting calcium influx and insulin secretion (PubMed 23161216). Plays a role in the regulation of resting membrane potential and contraction in hypoxia-treated pulmonary artery smooth muscle cells. May contribute to the regulation of the duration of both the action potential of cardiomyocytes and the heart ventricular repolarization QT interval. Contributes to the pronounced pro-apoptotic potassium current surge during neuronal apoptotic cell death in response to oxidative injury. May confer neuroprotection in response to hypoxia/ischemic insults by suppressing pyramidal neurons hyperexcitability in hippocampal and cortical regions (By similarity). Promotes trafficking of KCNG3, KCNH1 and KCNH2 to the cell surface membrane, presumably by forming heterotetrameric channels with these subunits (PubMed 12060745). Plays a role in the calcium-dependent recruitment and release of fusion-competent vesicles from the soma of neurons, neuroendocrine and glucose- induced pancreatic beta cells by binding key components of the fusion machinery in a pore-independent manner (By similarity). {ECO 0000250|UniProtKB P15387, ECO 0000250|UniProtKB Q03717, ECO 0000269|PubMed 10484328, ECO 0000269|PubMed 11852086, ECO 0000269|PubMed 12060745, ECO 0000269|PubMed 12560340, ECO 0000269|PubMed 1283219, ECO 0000269|PubMed 19074135, ECO 0000269|PubMed 19717558, ECO 0000269|PubMed 23161216, ECO 0000269|PubMed 24901643, ECO 0000269|PubMed 8081723}. # GO_component GO:0005622 intracellular; IEA:GOC. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0008076 voltage-gated potassium channel complex; IDA:UniProtKB. # GO_component GO:0016328 lateral plasma membrane; IEA:UniProtKB-SubCell. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0030424 axon; ISS:UniProtKB. # GO_component GO:0030425 dendrite; ISS:UniProtKB. # GO_component GO:0032809 neuronal cell body membrane; ISS:UniProtKB. # GO_component GO:0042383 sarcolemma; IEA:UniProtKB-SubCell. # GO_component GO:0043204 perikaryon; ISS:UniProtKB. # GO_component GO:0045211 postsynaptic membrane; IEA:UniProtKB-SubCell. # GO_function GO:0005251 delayed rectifier potassium channel activity; IDA:UniProtKB. # GO_function GO:0032182 ubiquitin-like protein binding; IPI:UniProtKB. # GO_function GO:0044325 ion channel binding; IPI:UniProtKB. # GO_function GO:0046982 protein heterodimerization activity; ISS:UniProtKB. # GO_process GO:0001508 action potential; IDA:UniProtKB. # GO_process GO:0006904 vesicle docking involved in exocytosis; ISS:UniProtKB. # GO_process GO:0007215 glutamate receptor signaling pathway; ISS:UniProtKB. # GO_process GO:0010701 positive regulation of norepinephrine secretion; ISS:UniProtKB. # GO_process GO:0031669 cellular response to nutrient levels; ISS:UniProtKB. # GO_process GO:0033605 positive regulation of catecholamine secretion; ISS:UniProtKB. # GO_process GO:0042593 glucose homeostasis; ISS:UniProtKB. # GO_process GO:0045956 positive regulation of calcium ion-dependent exocytosis; ISS:UniProtKB. # GO_process GO:0046676 negative regulation of insulin secretion; ISS:UniProtKB. # GO_process GO:0050796 regulation of insulin secretion; TAS:Reactome. # GO_process GO:0051260 protein homooligomerization; IEA:InterPro. # GO_process GO:0071333 cellular response to glucose stimulus; ISS:UniProtKB. # GO_process GO:0071805 potassium ion transmembrane transport; IDA:UniProtKB. # GO_process GO:0072661 protein targeting to plasma membrane; ISS:UniProtKB. # GO_process GO:0090314 positive regulation of protein targeting to membrane; IDA:UniProtKB. # GO_process GO:0098900 regulation of action potential; ISS:UniProtKB. # GO_process GO:1900454 positive regulation of long term synaptic depression; ISS:UniProtKB. # GO_process GO:2000671 regulation of motor neuron apoptotic process; ISS:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005622 intracellular # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0032182 ubiquitin-like protein binding # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006605 protein targeting # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0016192 vesicle-mediated transport # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # GOslim_process GO:0061024 membrane organization # Gene3D 1.20.120.350 -; 1. # Genevisible Q14721 HS # HGNC HGNC:6231 KCNB1 # InterPro IPR000210 BTB/POZ_dom # InterPro IPR003131 T1-type_BTB # InterPro IPR003968 K_chnl_volt-dep_Kv # InterPro IPR003973 K_chnl_volt-dep_Kv2 # InterPro IPR004350 K_chnl_volt-dep_Kv2.1 # InterPro IPR005821 Ion_trans_dom # InterPro IPR011333 SKP1/BTB/POZ # InterPro IPR027359 Channel_four-helix_dom # InterPro IPR028325 VG_K_chnl # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04040 Ion channels # KEGG_Pathway ko04742 Taste transduction # MIM 600397 gene # MIM 616056 phenotype # Organism KCNB1_HUMAN Homo sapiens (Human) # Orphanet 1934 Early infantile epileptic encephalopathy # PANTHER PTHR11537 PTHR11537 # PIR S31761 S31761 # PRINTS PR00169 KCHANNEL # PRINTS PR01491 KVCHANNEL # PRINTS PR01495 SHABCHANNEL # PRINTS PR01514 KV21CHANNEL # PTM KCNB1_HUMAN Acetylated. Acetylation occurs in pancreatic beta cells in response to stimulation by incretin hormones in a histone acetyltransferase (HAT)/histone deacetylase (HDAC)-dependent signaling pathway, promoting beta cell survival. {ECO 0000250|UniProtKB P15387}. # PTM KCNB1_HUMAN Phosphorylated. Differential C-terminal phosphorylation on a subset of serines allows graded activity-dependent regulation of channel gating in hippocampal neurons. Ser-607 and Tyr-128 are significant sites of voltage-gated regulation through phosphorylation/dephosphorylation activities. Tyr-128 can be phosphorylated by Src and dephosphorylated by cytoplasmic form of the phosphatase PTPRE. CDK5-induced Ser-607 phosphorylation increases in response to acute blockade of neuronal activity. Phosphorylated on Tyr-128 by Src and on Ser-805 by MAPK14/P38MAPK; phosphorylations are necessary and sufficient for an increase in plasma membrane insertion, apoptotic potassium current surge and completion of the neuronal cell death program. Phosphorylated on Ser-520, Ser-607, Ser-656 and Ser-805 by CDK5; phosphorylation is necessary for KCNB1 channel clustering formation. The Ser-607 phosphorylation state differs between KCNB1-containing clusters on the proximal and distal portions of the axon initial segment (AIS). Highly phosphorylated on serine residues in the C-terminal cytoplasmic tail in resting neurons. Phosphorylated in pancreatic beta cells in response to incretin hormones stimulation in a PKA- and RPS6KA5/MSK1-dependent signaling pathway, promoting beta cell survival. Phosphorylation on Ser-567 is reduced during postnatal development with low levels at P2 and P5; levels then increase to reach adult levels by P14. Phosphorylation on Ser-457, Ser-541, Ser-567, Ser-607, Ser-656 and Ser-720 as well as the N-terminal Ser-15 are sensitive to calcineurin-mediated dephosphorylation contributing to the modulation of the voltage-dependent gating properties. Dephosphorylation by phosphatase PTPRE confers neuroprotection by its inhibitory influence on the neuronal apoptotic potassium current surge in a Zn(2+)-dependent manner. Dephosphorylated at Ser-607 by protein phosphatase PPP1CA. Hypoxia-, seizure- or glutamate-induced neuronal activity promote calcium/calcineurin-dependent dephosphorylation resulting in a loss of KCNB1-containing clustering and enhanced channel activity. In response to brain ischemia, Ser-567 and Ser-607 are strongly dephosphorylated while Ser-457 and Ser-720 are less dephosphorylated. In response to brain seizures, phosphorylation levels on Ser-567 and Ser-607 are greatly reduced. Phosphorylated/dephosphorylated by Src or FYN tyrosine-protein kinases and tyrosine phosphatase PTPRE in primary Schwann cells and sciatic nerve tissue (By similarity). {ECO 0000250|UniProtKB P15387, ECO 0000250|UniProtKB Q03717}. # PTM KCNB1_HUMAN Sumoylated on Lys-474, preferentially with SUMO1; sumoylation induces a positive shift in the voltage-dependence of activation and inhibits channel activity (PubMed 19223394). Sumoylation increases the frequency of repetitive action potential firing at the cell surface of hippocampal neurons and decreases its frequency in pancreatic beta cells (PubMed 19223394). Desumoylated by SENP1 (PubMed 19223394). {ECO 0000269|PubMed 19223394}. # Pfam PF00520 Ion_trans # Pfam PF02214 BTB_2 # Pfam PF03521 Kv2channel; 2 # Proteomes UP000005640 Chromosome 20 # Reactome R-HSA-1296072 Voltage gated Potassium channels # Reactome R-HSA-381676 Glucagon-like Peptide-1 (GLP1) regulates insulin secretion # RecName Potassium voltage-gated channel subfamily B member 1 {ECO:0000312|HGNC HGNC:6231} # RefSeq NP_004966 NM_004975.3 # RefSeq XP_006723847 XM_006723784.3 # RefSeq XP_011527101 XM_011528799.2 # SEQUENCE CAUTION Sequence=AAA36156.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the potassium channel family. B (Shab) (TC 1.A.1.2) subfamily. Kv2.1/KCNB1 sub-subfamily. {ECO 0000305}. # SMART SM00225 BTB # SUBCELLULAR LOCATION KCNB1_HUMAN Cell membrane {ECO 0000269|PubMed 10484328, ECO 0000269|PubMed 11852086, ECO 0000269|PubMed 12060745, ECO 0000269|PubMed 12560340, ECO 0000269|PubMed 1283219, ECO 0000269|PubMed 19074135, ECO 0000269|PubMed 19223394, ECO 0000269|PubMed 19717558, ECO 0000269|PubMed 24477962, ECO 0000269|PubMed 24901643, ECO 0000269|PubMed 26503721, ECO 0000269|PubMed 8081723}. Perikaryon {ECO 0000269|PubMed 24477962}. Cell projection, axon {ECO 0000269|PubMed 24477962}. Cell projection, dendrite {ECO 0000269|PubMed 24477962}. Membrane; Multi-pass membrane protein. Cell junction, synapse, postsynaptic cell membrane {ECO 0000250|UniProtKB P15387}. Cell junction, synapse {ECO 0000250|UniProtKB P15387}. Cell junction, synapse, synaptosome {ECO 0000250|UniProtKB P15387}. Lateral cell membrane {ECO 0000250|UniProtKB P15387}. Cell membrane, sarcolemma {ECO 0000250|UniProtKB P15387}. Note=Localizes to high-density somatodendritic clusters and non-clustered sites on the surface of neocortical and hippocampal pyramidal neurons in a cortical actin cytoskeleton-dependent manner (PubMed 24477962). Localizes also to high-density clusters in the axon initial segment (AIS), at ankyrin-G-deficient sites, on the surface of neocortical and hippocampal pyramidal neurons (PubMed 24477962). KCNB1-containing AIS clusters localize either in close apposition to smooth endoplasmic reticulum cisternal organelles or with GABA-A receptor-containing synapses of hippocampal and cortical pyramidal neurons, respectively (PubMed 24477962). Localizes to high-density clusters on the cell surface of atrial and ventricular myocytes and at the lateral plasma membrane in epithelial cells. Localizes both to the axial and transverse tubules (T tubule) and sarcolemma in ventricular myocytes. Associated with lipid raft domains. In cortical neurons, apoptotic injuries induce de novo plasma membrane insertion in a SNARE-dependent manner causing an apoptotic potassium current surge. {ECO 0000250|UniProtKB P15387, ECO 0000250|UniProtKB Q03717, ECO 0000269|PubMed 12060745, ECO 0000269|PubMed 19074135, ECO 0000269|PubMed 24477962, ECO 0000269|PubMed 24901643}. # SUBUNIT KCNB1_HUMAN Homotetramer or heterotetramer with KCNB2 (PubMed 8081723, PubMed 1283219). Heterotetramer with non- conducting channel-forming alpha subunits such as KCNF1, KCNG1, KCNG3, KCNG4, KCNH1, KCNH2, KCNS1, KCNS2, KCNS3 and KCNV1 (PubMed 10484328, PubMed 11852086, PubMed 12060745, PubMed 19357235, PubMed 19074135, PubMed 19717558, PubMed 24901643). Channel activity is regulated by association with ancillary beta subunits such as AMIGO1, KCNE1, KCNE2 and KCNE3 (By similarity). Self-associates (via N-terminus and C- terminus) (PubMed 12560340, PubMed 24901643); self-association is required to regulate trafficking, gating and C-terminal phosphorylation-dependent modulation of the channel (By similarity). Interacts (via C-terminus) with STX1A (via C- terminus); this decreases the rate of channel activation and increases the rate of channel inactivation in pancreatic beta cells, induces also neuronal apoptosis in response to oxidative injury as well as pore-independent enhancement of exocytosis in neuroendocrine cells, chromaffin cells, pancreatic beta cells and from the soma of dorsal root ganglia (DRG) neurons. Interacts (via N-terminus) with SNAP25; this decreases the rate of channel inactivation in pancreatic beta cells and also increases interaction during neuronal apoptosis in a N-methyl-D-aspartate receptor (NMDAR)-dependent manner. Interacts (via N-terminus and C-terminus) with VAMP2 (via N-terminus); stimulates channel inactivation rate. Interacts with CREB1; this promotes channel acetylation in response to stimulation of incretin hormones. Interacts (via N-terminus and C-terminus) with MYL12B. Interacts (via N-terminus) with PIAS3; this increases the number of functional channels at the cell surface (By similarity). Interacts with SUMO1 (PubMed 19223394). Interacts (via phosphorylated form) with PTPRE; this reduces phosphorylation and channel activity in heterologous cells (By similarity). {ECO 0000250|UniProtKB P15387, ECO 0000250|UniProtKB Q03717, ECO 0000269|PubMed 10484328, ECO 0000269|PubMed 11852086, ECO 0000269|PubMed 12060745, ECO 0000269|PubMed 12560340, ECO 0000269|PubMed 1283219, ECO 0000269|PubMed 19074135, ECO 0000269|PubMed 19223394, ECO 0000269|PubMed 19357235, ECO 0000269|PubMed 19717558, ECO 0000269|PubMed 24901643, ECO 0000269|PubMed 8081723}. # SUPFAM SSF54695 SSF54695 # TCDB 1.A.1.2.11 the voltage-gated ion channel (vic) superfamily # TISSUE SPECIFICITY KCNB1_HUMAN Expressed in neocortical pyramidal cells (PubMed 24477962). Expressed in pancreatic beta cells (at protein level) (PubMed 12403834, PubMed 14988243). Expressed in brain, heart, lung, liver, colon, kidney and adrenal gland (PubMed 19074135). Expressed in the cortex, amygdala, cerebellum, pons, thalamus, hypothalamus, hippocampus and substantia nigra (PubMed 19074135). {ECO 0000269|PubMed 12403834, ECO 0000269|PubMed 14988243, ECO 0000269|PubMed 19074135, ECO 0000269|PubMed 24477962}. # UCSC uc002xur human # eggNOG COG1226 LUCA # eggNOG KOG3713 Eukaryota BLAST swissprot:KCNB1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KCNB1_HUMAN BioCyc ZFISH:ENSG00000158445-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000158445-MONOMER COXPRESdb 3745 http://coxpresdb.jp/data/gene/3745.shtml CleanEx HS_KCNB1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KCNB1 DOI 10.1002/ana.24263 http://dx.doi.org/10.1002/ana.24263 DOI 10.1002/cne.23551 http://dx.doi.org/10.1002/cne.23551 DOI 10.1007/BF00370422 http://dx.doi.org/10.1007/BF00370422 DOI 10.1016/S0014-5793(02)02267-6 http://dx.doi.org/10.1016/S0014-5793(02)02267-6 DOI 10.1021/tx0341097 http://dx.doi.org/10.1021/tx0341097 DOI 10.1038/414865a http://dx.doi.org/10.1038/414865a DOI 10.1038/srep15199 http://dx.doi.org/10.1038/srep15199 DOI 10.1073/pnas.122617999 http://dx.doi.org/10.1073/pnas.122617999 DOI 10.1074/jbc.M109.039479 http://dx.doi.org/10.1074/jbc.M109.039479 DOI 10.1074/jbc.M212973200 http://dx.doi.org/10.1074/jbc.M212973200 DOI 10.1074/jbc.M808786200 http://dx.doi.org/10.1074/jbc.M808786200 DOI 10.1085/jgp.201511444 http://dx.doi.org/10.1085/jgp.201511444 DOI 10.1111/j.1749-6632.1999.tb11293.x http://dx.doi.org/10.1111/j.1749-6632.1999.tb11293.x DOI 10.1124/jpet.112.199083 http://dx.doi.org/10.1124/jpet.112.199083 DOI 10.1152/ajpcell.00088.2009 http://dx.doi.org/10.1152/ajpcell.00088.2009 DOI 10.1210/me.2002-0058 http://dx.doi.org/10.1210/me.2002-0058 DOI 10.1242/jcs.036632 http://dx.doi.org/10.1242/jcs.036632 DOI 10.1371/journal.pone.0098960 http://dx.doi.org/10.1371/journal.pone.0098960 DOI 10.1385/CBB:42:2:167 http://dx.doi.org/10.1385/CBB:42:2:167 DOI 10.2337/diabetes.53.3.597 http://dx.doi.org/10.2337/diabetes.53.3.597 DrugBank DB06637 http://www.drugbank.ca/drugs/DB06637 EMBL AF026005 http://www.ebi.ac.uk/ena/data/view/AF026005 EMBL AL035685 http://www.ebi.ac.uk/ena/data/view/AL035685 EMBL L02840 http://www.ebi.ac.uk/ena/data/view/L02840 EMBL X68302 http://www.ebi.ac.uk/ena/data/view/X68302 Ensembl ENST00000371741 http://www.ensembl.org/id/ENST00000371741 Ensembl ENST00000635465 http://www.ensembl.org/id/ENST00000635465 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005622 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005622 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0008076 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008076 GO_component GO:0016328 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016328 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0030424 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030424 GO_component GO:0030425 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030425 GO_component GO:0032809 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032809 GO_component GO:0042383 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042383 GO_component GO:0043204 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043204 GO_component GO:0045211 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045211 GO_function GO:0005251 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005251 GO_function GO:0032182 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032182 GO_function GO:0044325 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044325 GO_function GO:0046982 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046982 GO_process GO:0001508 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001508 GO_process GO:0006904 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006904 GO_process GO:0007215 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007215 GO_process GO:0010701 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010701 GO_process GO:0031669 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031669 GO_process GO:0033605 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033605 GO_process GO:0042593 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042593 GO_process GO:0045956 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045956 GO_process GO:0046676 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046676 GO_process GO:0050796 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050796 GO_process GO:0051260 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051260 GO_process GO:0071333 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071333 GO_process GO:0071805 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071805 GO_process GO:0072661 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0072661 GO_process GO:0090314 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090314 GO_process GO:0098900 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0098900 GO_process GO:1900454 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1900454 GO_process GO:2000671 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000671 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005622 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005622 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0032182 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032182 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006605 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006605 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0016192 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016192 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GOslim_process GO:0061024 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061024 Gene3D 1.20.120.350 http://www.cathdb.info/version/latest/superfamily/1.20.120.350 GeneCards KCNB1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KCNB1 GeneID 3745 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=3745 GeneTree ENSGT00760000118981 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118981 HGNC HGNC:6231 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6231 HOGENOM HOG000113206 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000113206&db=HOGENOM6 HOVERGEN HBG052225 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052225&db=HOVERGEN HPA CAB001979 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB001979 HPA HPA042434 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA042434 InParanoid Q14721 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q14721 IntAct Q14721 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q14721* InterPro IPR000210 http://www.ebi.ac.uk/interpro/entry/IPR000210 InterPro IPR003131 http://www.ebi.ac.uk/interpro/entry/IPR003131 InterPro IPR003968 http://www.ebi.ac.uk/interpro/entry/IPR003968 InterPro IPR003973 http://www.ebi.ac.uk/interpro/entry/IPR003973 InterPro IPR004350 http://www.ebi.ac.uk/interpro/entry/IPR004350 InterPro IPR005821 http://www.ebi.ac.uk/interpro/entry/IPR005821 InterPro IPR011333 http://www.ebi.ac.uk/interpro/entry/IPR011333 InterPro IPR027359 http://www.ebi.ac.uk/interpro/entry/IPR027359 InterPro IPR028325 http://www.ebi.ac.uk/interpro/entry/IPR028325 Jabion 3745 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=3745 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04040 http://www.genome.jp/dbget-bin/www_bget?ko04040 KEGG_Gene hsa:3745 http://www.genome.jp/dbget-bin/www_bget?hsa:3745 KEGG_Orthology KO:K04885 http://www.genome.jp/dbget-bin/www_bget?KO:K04885 KEGG_Pathway ko04742 http://www.genome.jp/kegg-bin/show_pathway?ko04742 MIM 600397 http://www.ncbi.nlm.nih.gov/omim/600397 MIM 616056 http://www.ncbi.nlm.nih.gov/omim/616056 OMA TEGVIDM http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=TEGVIDM Orphanet 1934 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1934 OrthoDB EOG091G0FP3 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0FP3 PANTHER PTHR11537 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11537 PRINTS PR00169 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00169 PRINTS PR01491 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01491 PRINTS PR01495 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01495 PRINTS PR01514 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01514 PSORT swissprot:KCNB1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KCNB1_HUMAN PSORT-B swissprot:KCNB1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KCNB1_HUMAN PSORT2 swissprot:KCNB1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KCNB1_HUMAN Pfam PF00520 http://pfam.xfam.org/family/PF00520 Pfam PF02214 http://pfam.xfam.org/family/PF02214 Pfam PF03521 http://pfam.xfam.org/family/PF03521 PharmGKB PA209 http://www.pharmgkb.org/do/serve?objId=PA209&objCls=Gene Phobius swissprot:KCNB1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KCNB1_HUMAN PhylomeDB Q14721 http://phylomedb.org/?seqid=Q14721 ProteinModelPortal Q14721 http://www.proteinmodelportal.org/query/uniprot/Q14721 PubMed 10414301 http://www.ncbi.nlm.nih.gov/pubmed/10414301 PubMed 10484328 http://www.ncbi.nlm.nih.gov/pubmed/10484328 PubMed 11780052 http://www.ncbi.nlm.nih.gov/pubmed/11780052 PubMed 11852086 http://www.ncbi.nlm.nih.gov/pubmed/11852086 PubMed 12060745 http://www.ncbi.nlm.nih.gov/pubmed/12060745 PubMed 12403834 http://www.ncbi.nlm.nih.gov/pubmed/12403834 PubMed 12560340 http://www.ncbi.nlm.nih.gov/pubmed/12560340 PubMed 1283219 http://www.ncbi.nlm.nih.gov/pubmed/1283219 PubMed 14565763 http://www.ncbi.nlm.nih.gov/pubmed/14565763 PubMed 14988243 http://www.ncbi.nlm.nih.gov/pubmed/14988243 PubMed 15858231 http://www.ncbi.nlm.nih.gov/pubmed/15858231 PubMed 19074135 http://www.ncbi.nlm.nih.gov/pubmed/19074135 PubMed 19223394 http://www.ncbi.nlm.nih.gov/pubmed/19223394 PubMed 19357235 http://www.ncbi.nlm.nih.gov/pubmed/19357235 PubMed 19717558 http://www.ncbi.nlm.nih.gov/pubmed/19717558 PubMed 23161216 http://www.ncbi.nlm.nih.gov/pubmed/23161216 PubMed 24477962 http://www.ncbi.nlm.nih.gov/pubmed/24477962 PubMed 24901643 http://www.ncbi.nlm.nih.gov/pubmed/24901643 PubMed 25164438 http://www.ncbi.nlm.nih.gov/pubmed/25164438 PubMed 26477325 http://www.ncbi.nlm.nih.gov/pubmed/26477325 PubMed 26503721 http://www.ncbi.nlm.nih.gov/pubmed/26503721 PubMed 8081723 http://www.ncbi.nlm.nih.gov/pubmed/8081723 Reactome R-HSA-1296072 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1296072 Reactome R-HSA-381676 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-381676 RefSeq NP_004966 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004966 RefSeq XP_006723847 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006723847 RefSeq XP_011527101 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011527101 SMART SM00225 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00225 SMR Q14721 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q14721 STRING 9606.ENSP00000360806 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000360806&targetmode=cogs SUPFAM SSF54695 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF54695 TCDB 1.A.1.2.11 http://www.tcdb.org/search/result.php?tc=1.A.1.2.11 UCSC uc002xur http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002xur&org=rat UniGene Hs.633143 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.633143 UniGene Hs.84244 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.84244 UniProtKB KCNB1_HUMAN http://www.uniprot.org/uniprot/KCNB1_HUMAN UniProtKB-AC Q14721 http://www.uniprot.org/uniprot/Q14721 charge swissprot:KCNB1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KCNB1_HUMAN eggNOG COG1226 http://eggnogapi.embl.de/nog_data/html/tree/COG1226 eggNOG KOG3713 http://eggnogapi.embl.de/nog_data/html/tree/KOG3713 epestfind swissprot:KCNB1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KCNB1_HUMAN garnier swissprot:KCNB1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KCNB1_HUMAN helixturnhelix swissprot:KCNB1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KCNB1_HUMAN hmoment swissprot:KCNB1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KCNB1_HUMAN iep swissprot:KCNB1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KCNB1_HUMAN inforesidue swissprot:KCNB1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KCNB1_HUMAN neXtProt NX_Q14721 http://www.nextprot.org/db/entry/NX_Q14721 octanol swissprot:KCNB1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KCNB1_HUMAN pepcoil swissprot:KCNB1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KCNB1_HUMAN pepdigest swissprot:KCNB1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KCNB1_HUMAN pepinfo swissprot:KCNB1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KCNB1_HUMAN pepnet swissprot:KCNB1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KCNB1_HUMAN pepstats swissprot:KCNB1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KCNB1_HUMAN pepwheel swissprot:KCNB1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KCNB1_HUMAN pepwindow swissprot:KCNB1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KCNB1_HUMAN sigcleave swissprot:KCNB1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KCNB1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS VPP1_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; Synonyms=I; IsoId=Q93050-2; Sequence=Displayed; Name=2; Synonyms=II; IsoId=Q93050-1; Sequence=VSP_012814; Name=3; IsoId=Q93050-3; Sequence=VSP_043532, VSP_012814; Note=No experimental confirmation available.; # AltName VPP1_HUMAN Clathrin-coated vesicle/synaptic vesicle proton pump 116 kDa subunit # AltName VPP1_HUMAN Vacuolar adenosine triphosphatase subunit Ac116 # AltName VPP1_HUMAN Vacuolar proton pump subunit 1 # AltName VPP1_HUMAN Vacuolar proton translocating ATPase 116 kDa subunit a isoform 1 # BioGrid 107018 77 # CCDS CCDS11426 -. [Q93050-1] # CCDS CCDS45683 -. [Q93050-3] # CCDS CCDS45684 -. [Q93050-2] # ChiTaRS ATP6V0A1 human # Ensembl ENST00000264649 ENSP00000264649; ENSG00000033627. [Q93050-3] # Ensembl ENST00000343619 ENSP00000342951; ENSG00000033627. [Q93050-2] # Ensembl ENST00000393829 ENSP00000377415; ENSG00000033627. [Q93050-1] # ExpressionAtlas Q93050 baseline and differential # FUNCTION VPP1_HUMAN Required for assembly and activity of the vacuolar ATPase. Potential role in differential targeting and regulation of the enzyme for a specific organelle (By similarity). {ECO 0000250}. # GO_component GO:0000220 vacuolar proton-transporting V-type ATPase, V0 domain; IEA:InterPro. # GO_component GO:0005623 cell; TAS:ParkinsonsUK-UCL. # GO_component GO:0005654 nucleoplasm; IDA:HPA. # GO_component GO:0005737 cytoplasm; IDA:HPA. # GO_component GO:0005794 Golgi apparatus; IDA:HPA. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0010008 endosome membrane; TAS:Reactome. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0016471 vacuolar proton-transporting V-type ATPase complex; IBA:GO_Central. # GO_component GO:0030670 phagocytic vesicle membrane; TAS:Reactome. # GO_component GO:0042470 melanosome; IEA:UniProtKB-SubCell. # GO_component GO:0043231 intracellular membrane-bounded organelle; IDA:HPA. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0046961 proton-transporting ATPase activity, rotational mechanism; IBA:GO_Central. # GO_function GO:0051117 ATPase binding; IPI:UniProtKB. # GO_process GO:0007035 vacuolar acidification; TAS:ParkinsonsUK-UCL. # GO_process GO:0008286 insulin receptor signaling pathway; TAS:Reactome. # GO_process GO:0015986 ATP synthesis coupled proton transport; IBA:GO_Central. # GO_process GO:0015991 ATP hydrolysis coupled proton transport; IEA:InterPro. # GO_process GO:0016241 regulation of macroautophagy; IMP:ParkinsonsUK-UCL. # GO_process GO:0033572 transferrin transport; TAS:Reactome. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0070072 vacuolar proton-transporting V-type ATPase complex assembly; IBA:GO_Central. # GO_process GO:0090383 phagosome acidification; TAS:Reactome. # GO_process GO:1901998 toxin transport; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005623 cell # GOslim_component GO:0005654 nucleoplasm # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005794 Golgi apparatus # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0031410 cytoplasmic vesicle # GOslim_component GO:0043226 organelle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0019899 enzyme binding # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0044281 small molecule metabolic process # GOslim_process GO:0055085 transmembrane transport # Genevisible Q93050 HS # HGNC HGNC:865 ATP6V0A1 # IntAct Q93050 28 # InterPro IPR002490 V-ATPase_116kDa_su # InterPro IPR026028 V-type_ATPase_116kDa_su_euka # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Brite ko01000 Enzymes # KEGG_Pathway ko00190 Oxidative phosphorylation # KEGG_Pathway ko04142 Lysosome # KEGG_Pathway ko04145 Phagosome # KEGG_Pathway ko04721 Synaptic vesicle cycle # KEGG_Pathway ko04966 Collecting duct acid secretion # KEGG_Pathway ko05110 Vibrio cholerae infection # KEGG_Pathway ko05120 Epithelial cell signaling in Helicobacter pylori infection # KEGG_Pathway ko05152 Tuberculosis # KEGG_Pathway ko05323 Rheumatoid arthritis # MIM 192130 gene # Organism VPP1_HUMAN Homo sapiens (Human) # PANTHER PTHR11629 PTHR11629 # PIR T46449 T46449 # PIRSF PIRSF001293 ATP6V0A1 # Pfam PF01496 V_ATPase_I # Proteomes UP000005640 Chromosome 17 # Reactome R-HSA-1222556 ROS, RNS production in response to bacteria # Reactome R-HSA-6798695 Neutrophil degranulation # Reactome R-HSA-77387 Insulin receptor recycling # Reactome R-HSA-917977 Transferrin endocytosis and recycling # Reactome R-HSA-983712 Ion channel transport # RecName VPP1_HUMAN V-type proton ATPase 116 kDa subunit a isoform 1 # RefSeq NP_001123492 NM_001130020.1. [Q93050-3] # RefSeq NP_001123493 NM_001130021.1. [Q93050-2] # RefSeq NP_005168 NM_005177.3. [Q93050-1] # SIMILARITY Belongs to the V-ATPase 116 kDa subunit family. {ECO 0000305}. # SUBCELLULAR LOCATION VPP1_HUMAN Cytoplasmic vesicle membrane; Multi-pass membrane protein. Melanosome. Note=Coated vesicle. Identified by mass spectrometry in melanosome fractions from stage I to stage IV. # SUBUNIT VPP1_HUMAN The V-ATPase is a heteromultimeric enzyme composed of at least thirteen different subunits. It has a membrane peripheral V1 sector for ATP hydrolysis and an integral V0 for proton translocation. The V1 sector comprises subunits A-H, whereas V0 includes subunits a, d, c, c', and c''. # TCDB 3.A.2.2 the h(+)- or na(+)-translocating f-type, v-type and a-type atpase (f-atpase) superfamily # UCSC uc002hzq human. [Q93050-2] # eggNOG COG1269 LUCA # eggNOG KOG2189 Eukaryota BLAST swissprot:VPP1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:VPP1_HUMAN BioCyc MetaCyc:ENSG00000033627-MONOMER http://biocyc.org/getid?id=MetaCyc:ENSG00000033627-MONOMER BioCyc ZFISH:ENSG00000033627-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000033627-MONOMER COG COG1269 http://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=COG1269 COXPRESdb 535 http://coxpresdb.jp/data/gene/535.shtml CleanEx HS_ATP6V0A1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ATP6V0A1 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1021/pr025562r http://dx.doi.org/10.1021/pr025562r DOI 10.1021/pr060363j http://dx.doi.org/10.1021/pr060363j DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature04689 http://dx.doi.org/10.1038/nature04689 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 EMBL AC067852 http://www.ebi.ac.uk/ena/data/view/AC067852 EMBL AC107993 http://www.ebi.ac.uk/ena/data/view/AC107993 EMBL AK295682 http://www.ebi.ac.uk/ena/data/view/AK295682 EMBL AK316305 http://www.ebi.ac.uk/ena/data/view/AK316305 EMBL AL137683 http://www.ebi.ac.uk/ena/data/view/AL137683 EMBL BC032398 http://www.ebi.ac.uk/ena/data/view/BC032398 EMBL CH471152 http://www.ebi.ac.uk/ena/data/view/CH471152 EMBL Z71460 http://www.ebi.ac.uk/ena/data/view/Z71460 Ensembl ENST00000264649 http://www.ensembl.org/id/ENST00000264649 Ensembl ENST00000343619 http://www.ensembl.org/id/ENST00000343619 Ensembl ENST00000393829 http://www.ensembl.org/id/ENST00000393829 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000220 GO_component GO:0005623 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005623 GO_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GO_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GO_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0010008 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010008 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0016471 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016471 GO_component GO:0030670 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030670 GO_component GO:0042470 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042470 GO_component GO:0043231 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043231 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0046961 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046961 GO_function GO:0051117 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051117 GO_process GO:0007035 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007035 GO_process GO:0008286 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008286 GO_process GO:0015986 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015986 GO_process GO:0015991 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015991 GO_process GO:0016241 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016241 GO_process GO:0033572 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033572 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0070072 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070072 GO_process GO:0090383 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090383 GO_process GO:1901998 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1901998 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005623 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005623 GOslim_component GO:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005794 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_component GO:0031410 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006461 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0009058 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058 GOslim_process GO:0034641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards ATP6V0A1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ATP6V0A1 GeneID 535 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=535 GeneTree ENSGT00390000004941 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000004941 H-InvDB HIX0013842 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0013842 HGNC HGNC:865 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:865 HOGENOM HOG000037059 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000037059&db=HOGENOM6 HOVERGEN HBG014606 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG014606&db=HOVERGEN HPA HPA022144 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA022144 InParanoid Q93050 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q93050 IntAct Q93050 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q93050* InterPro IPR002490 http://www.ebi.ac.uk/interpro/entry/IPR002490 InterPro IPR026028 http://www.ebi.ac.uk/interpro/entry/IPR026028 Jabion 535 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=535 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00002 http://www.genome.jp/dbget-bin/www_bget?ko00002 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Gene hsa:535 http://www.genome.jp/dbget-bin/www_bget?hsa:535 KEGG_Orthology KO:K02154 http://www.genome.jp/dbget-bin/www_bget?KO:K02154 KEGG_Pathway ko00190 http://www.genome.jp/kegg-bin/show_pathway?ko00190 KEGG_Pathway ko04142 http://www.genome.jp/kegg-bin/show_pathway?ko04142 KEGG_Pathway ko04145 http://www.genome.jp/kegg-bin/show_pathway?ko04145 KEGG_Pathway ko04721 http://www.genome.jp/kegg-bin/show_pathway?ko04721 KEGG_Pathway ko04966 http://www.genome.jp/kegg-bin/show_pathway?ko04966 KEGG_Pathway ko05110 http://www.genome.jp/kegg-bin/show_pathway?ko05110 KEGG_Pathway ko05120 http://www.genome.jp/kegg-bin/show_pathway?ko05120 KEGG_Pathway ko05152 http://www.genome.jp/kegg-bin/show_pathway?ko05152 KEGG_Pathway ko05323 http://www.genome.jp/kegg-bin/show_pathway?ko05323 MIM 192130 http://www.ncbi.nlm.nih.gov/omim/192130 MINT MINT-3049850 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-3049850 OMA FTLYNWT http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=FTLYNWT OrthoDB EOG091G01BI http://cegg.unige.ch/orthodb/results?searchtext=EOG091G01BI PANTHER PTHR11629 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11629 PSORT swissprot:VPP1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:VPP1_HUMAN PSORT-B swissprot:VPP1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:VPP1_HUMAN PSORT2 swissprot:VPP1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:VPP1_HUMAN Pfam PF01496 http://pfam.xfam.org/family/PF01496 PharmGKB PA25146 http://www.pharmgkb.org/do/serve?objId=PA25146&objCls=Gene Phobius swissprot:VPP1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:VPP1_HUMAN PhylomeDB Q93050 http://phylomedb.org/?seqid=Q93050 ProteinModelPortal Q93050 http://www.proteinmodelportal.org/query/uniprot/Q93050 PubMed 12643545 http://www.ncbi.nlm.nih.gov/pubmed/12643545 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16625196 http://www.ncbi.nlm.nih.gov/pubmed/16625196 PubMed 17081065 http://www.ncbi.nlm.nih.gov/pubmed/17081065 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 Reactome R-HSA-1222556 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1222556 Reactome R-HSA-6798695 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6798695 Reactome R-HSA-77387 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-77387 Reactome R-HSA-917977 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-917977 Reactome R-HSA-983712 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-983712 RefSeq NP_001123492 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001123492 RefSeq NP_001123493 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001123493 RefSeq NP_005168 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_005168 STRING 9606.ENSP00000264649 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000264649&targetmode=cogs STRING COG1269 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=COG1269&targetmode=cogs TCDB 3.A.2.2 http://www.tcdb.org/search/result.php?tc=3.A.2.2 UCSC uc002hzq http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002hzq&org=rat UniGene Hs.463074 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.463074 UniProtKB VPP1_HUMAN http://www.uniprot.org/uniprot/VPP1_HUMAN UniProtKB-AC Q93050 http://www.uniprot.org/uniprot/Q93050 charge swissprot:VPP1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:VPP1_HUMAN eggNOG COG1269 http://eggnogapi.embl.de/nog_data/html/tree/COG1269 eggNOG KOG2189 http://eggnogapi.embl.de/nog_data/html/tree/KOG2189 epestfind swissprot:VPP1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:VPP1_HUMAN garnier swissprot:VPP1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:VPP1_HUMAN helixturnhelix swissprot:VPP1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:VPP1_HUMAN hmoment swissprot:VPP1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:VPP1_HUMAN iep swissprot:VPP1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:VPP1_HUMAN inforesidue swissprot:VPP1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:VPP1_HUMAN neXtProt NX_Q93050 http://www.nextprot.org/db/entry/NX_Q93050 octanol swissprot:VPP1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:VPP1_HUMAN pepcoil swissprot:VPP1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:VPP1_HUMAN pepdigest swissprot:VPP1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:VPP1_HUMAN pepinfo swissprot:VPP1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:VPP1_HUMAN pepnet swissprot:VPP1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:VPP1_HUMAN pepstats swissprot:VPP1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:VPP1_HUMAN pepwheel swissprot:VPP1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:VPP1_HUMAN pepwindow swissprot:VPP1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:VPP1_HUMAN sigcleave swissprot:VPP1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:VPP1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS VATC2_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8NEY4-1; Sequence=Displayed; Name=2; IsoId=Q8NEY4-2; Sequence=VSP_024883; # AltName VATC2_HUMAN Vacuolar proton pump subunit C 2 # BioGrid 128859 24 # CCDS CCDS1674 -. [Q8NEY4-2] # CCDS CCDS42653 -. [Q8NEY4-1] # CDD cd14785 V-ATPase_C # ChiTaRS ATP6V1C2 human # Ensembl ENST00000272238 ENSP00000272238; ENSG00000143882. [Q8NEY4-1] # Ensembl ENST00000381661 ENSP00000371077; ENSG00000143882. [Q8NEY4-2] # ExpressionAtlas Q8NEY4 baseline and differential # FUNCTION VATC2_HUMAN Subunit of the peripheral V1 complex of vacuolar ATPase. Subunit C is necessary for the assembly of the catalytic sector of the enzyme and is likely to have a specific function in its catalytic activity. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. # GO_component GO:0000221 vacuolar proton-transporting V-type ATPase, V1 domain; IBA:GO_Central. # GO_component GO:0005765 lysosomal membrane; IDA:UniProtKB. # GO_component GO:0005829 cytosol; TAS:Reactome. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0008553 hydrogen-exporting ATPase activity, phosphorylative mechanism; IBA:GO_Central. # GO_function GO:0046961 proton-transporting ATPase activity, rotational mechanism; IBA:GO_Central. # GO_function GO:0046983 protein dimerization activity; IDA:UniProtKB. # GO_process GO:0008286 insulin receptor signaling pathway; TAS:Reactome. # GO_process GO:0015991 ATP hydrolysis coupled proton transport; IEA:InterPro. # GO_process GO:0016241 regulation of macroautophagy; NAS:ParkinsonsUK-UCL. # GO_process GO:0030177 positive regulation of Wnt signaling pathway; IMP:UniProtKB. # GO_process GO:0033572 transferrin transport; TAS:Reactome. # GO_process GO:0034220 ion transmembrane transport; TAS:Reactome. # GO_process GO:0090383 phagosome acidification; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005829 cytosol # GOslim_component GO:0043226 organelle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0016887 ATPase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_process GO:0006810 transport # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0055085 transmembrane transport # Genevisible Q8NEY4 HS # HGNC HGNC:18264 ATP6V1C2 # INTERACTION VATC2_HUMAN Q08379 GOLGA2; NbExp=3; IntAct=EBI-10270867, EBI-618309; # IntAct Q8NEY4 16 # InterPro IPR004907 ATPase_V1-cplx_csu # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Brite ko01000 Enzymes # KEGG_Pathway ko00190 Oxidative phosphorylation # KEGG_Pathway ko04145 Phagosome # KEGG_Pathway ko04721 Synaptic vesicle cycle # KEGG_Pathway ko04966 Collecting duct acid secretion # KEGG_Pathway ko05110 Vibrio cholerae infection # KEGG_Pathway ko05120 Epithelial cell signaling in Helicobacter pylori infection # KEGG_Pathway ko05323 Rheumatoid arthritis # Organism VATC2_HUMAN Homo sapiens (Human) # PANTHER PTHR10137 PTHR10137; 2 # Pfam PF03223 V-ATPase_C # Proteomes UP000005640 Chromosome 2 # Reactome R-HSA-1222556 ROS, RNS production in response to bacteria # Reactome R-HSA-77387 Insulin receptor recycling # Reactome R-HSA-917977 Transferrin endocytosis and recycling # Reactome R-HSA-983712 Ion channel transport # RecName VATC2_HUMAN V-type proton ATPase subunit C 2 # RefSeq NP_001034451 NM_001039362.1. [Q8NEY4-1] # RefSeq NP_653184 NM_144583.3. [Q8NEY4-2] # RefSeq XP_016859234 XM_017003745.1. [Q8NEY4-1] # SEQUENCE CAUTION Sequence=AAY24069.1; Type=Erroneous gene model prediction; Evidence={ECO 0000305}; # SIMILARITY Belongs to the V-ATPase C subunit family. {ECO 0000305}. # SUBUNIT V-ATPase is a heteromultimeric enzyme composed of a peripheral catalytic V1 complex (components A to H) attached to an integral membrane V0 proton pore complex (components a, c, c', c'' and d). # SUPFAM SSF118203 SSF118203; 2 # TCDB 3.A.2.2 the h(+)- or na(+)-translocating f-type, v-type and a-type atpase (f-atpase) superfamily # TISSUE SPECIFICITY Kidney and placenta. {ECO:0000269|PubMed 12384298}. # UCSC uc002ras human. [Q8NEY4-1] # eggNOG COG5127 LUCA # eggNOG KOG2909 Eukaryota BLAST swissprot:VATC2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:VATC2_HUMAN BioCyc MetaCyc:HS07123-MONOMER http://biocyc.org/getid?id=MetaCyc:HS07123-MONOMER BioCyc ZFISH:HS07123-MONOMER http://biocyc.org/getid?id=ZFISH:HS07123-MONOMER COXPRESdb 245973 http://coxpresdb.jp/data/gene/245973.shtml CleanEx HS_ATP6V1C2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ATP6V1C2 DOI 10.1016/S0378-1119(02)00884-3 http://dx.doi.org/10.1016/S0378-1119(02)00884-3 DOI 10.1038/nature03466 http://dx.doi.org/10.1038/nature03466 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AC092687 http://www.ebi.ac.uk/ena/data/view/AC092687 EMBL AY039759 http://www.ebi.ac.uk/ena/data/view/AY039759 EMBL BC012142 http://www.ebi.ac.uk/ena/data/view/BC012142 Ensembl ENST00000272238 http://www.ensembl.org/id/ENST00000272238 Ensembl ENST00000381661 http://www.ensembl.org/id/ENST00000381661 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000221 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000221 GO_component GO:0005765 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005765 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0008553 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008553 GO_function GO:0046961 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046961 GO_function GO:0046983 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046983 GO_process GO:0008286 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008286 GO_process GO:0015991 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015991 GO_process GO:0016241 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016241 GO_process GO:0030177 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030177 GO_process GO:0033572 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033572 GO_process GO:0034220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220 GO_process GO:0090383 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090383 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0016887 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016887 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0042592 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592 GOslim_process GO:0055085 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085 GeneCards ATP6V1C2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ATP6V1C2 GeneID 245973 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=245973 GeneTree ENSGT00390000004263 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000004263 HGNC HGNC:18264 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:18264 HOGENOM HOG000207528 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000207528&db=HOGENOM6 HOVERGEN HBG002470 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG002470&db=HOVERGEN HPA HPA034734 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA034734 HPA HPA034735 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA034735 InParanoid Q8NEY4 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8NEY4 IntAct Q8NEY4 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q8NEY4* InterPro IPR004907 http://www.ebi.ac.uk/interpro/entry/IPR004907 Jabion 245973 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=245973 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00002 http://www.genome.jp/dbget-bin/www_bget?ko00002 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Gene hsa:245973 http://www.genome.jp/dbget-bin/www_bget?hsa:245973 KEGG_Orthology KO:K02148 http://www.genome.jp/dbget-bin/www_bget?KO:K02148 KEGG_Pathway ko00190 http://www.genome.jp/kegg-bin/show_pathway?ko00190 KEGG_Pathway ko04145 http://www.genome.jp/kegg-bin/show_pathway?ko04145 KEGG_Pathway ko04721 http://www.genome.jp/kegg-bin/show_pathway?ko04721 KEGG_Pathway ko04966 http://www.genome.jp/kegg-bin/show_pathway?ko04966 KEGG_Pathway ko05110 http://www.genome.jp/kegg-bin/show_pathway?ko05110 KEGG_Pathway ko05120 http://www.genome.jp/kegg-bin/show_pathway?ko05120 KEGG_Pathway ko05323 http://www.genome.jp/kegg-bin/show_pathway?ko05323 OMA NSEYLIT http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=NSEYLIT OrthoDB EOG091G03CP http://cegg.unige.ch/orthodb/results?searchtext=EOG091G03CP PANTHER PTHR10137 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10137 PSORT swissprot:VATC2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:VATC2_HUMAN PSORT-B swissprot:VATC2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:VATC2_HUMAN PSORT2 swissprot:VATC2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:VATC2_HUMAN Pfam PF03223 http://pfam.xfam.org/family/PF03223 PharmGKB PA38514 http://www.pharmgkb.org/do/serve?objId=PA38514&objCls=Gene Phobius swissprot:VATC2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:VATC2_HUMAN PhylomeDB Q8NEY4 http://phylomedb.org/?seqid=Q8NEY4 ProteinModelPortal Q8NEY4 http://www.proteinmodelportal.org/query/uniprot/Q8NEY4 PubMed 12384298 http://www.ncbi.nlm.nih.gov/pubmed/12384298 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 Reactome R-HSA-1222556 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1222556 Reactome R-HSA-77387 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-77387 Reactome R-HSA-917977 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-917977 Reactome R-HSA-983712 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-983712 RefSeq NP_001034451 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001034451 RefSeq NP_653184 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_653184 RefSeq XP_016859234 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016859234 SMR Q8NEY4 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q8NEY4 STRING 9606.ENSP00000272238 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000272238&targetmode=cogs SUPFAM SSF118203 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF118203 TCDB 3.A.2.2 http://www.tcdb.org/search/result.php?tc=3.A.2.2 UCSC uc002ras http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002ras&org=rat UniGene Hs.580464 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.580464 UniProtKB VATC2_HUMAN http://www.uniprot.org/uniprot/VATC2_HUMAN UniProtKB-AC Q8NEY4 http://www.uniprot.org/uniprot/Q8NEY4 charge swissprot:VATC2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:VATC2_HUMAN eggNOG COG5127 http://eggnogapi.embl.de/nog_data/html/tree/COG5127 eggNOG KOG2909 http://eggnogapi.embl.de/nog_data/html/tree/KOG2909 epestfind swissprot:VATC2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:VATC2_HUMAN garnier swissprot:VATC2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:VATC2_HUMAN helixturnhelix swissprot:VATC2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:VATC2_HUMAN hmoment swissprot:VATC2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:VATC2_HUMAN iep swissprot:VATC2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:VATC2_HUMAN inforesidue swissprot:VATC2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:VATC2_HUMAN neXtProt NX_Q8NEY4 http://www.nextprot.org/db/entry/NX_Q8NEY4 octanol swissprot:VATC2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:VATC2_HUMAN pepcoil swissprot:VATC2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:VATC2_HUMAN pepdigest swissprot:VATC2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:VATC2_HUMAN pepinfo swissprot:VATC2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:VATC2_HUMAN pepnet swissprot:VATC2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:VATC2_HUMAN pepstats swissprot:VATC2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:VATC2_HUMAN pepwheel swissprot:VATC2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:VATC2_HUMAN pepwindow swissprot:VATC2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:VATC2_HUMAN sigcleave swissprot:VATC2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:VATC2_HUMAN ## Database ID URL or Descriptions # AltName COX2_HUMAN Cytochrome c oxidase polypeptide II # BioGrid 110616 43 # COFACTOR Name=Cu cation; Xref=ChEBI:CHEBI 23378; Note=Binds a copper A center.; # DISEASE COX2_HUMAN Mitochondrial complex IV deficiency (MT-C4D) [MIM 220110] A disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to severe multisystem disease affecting several tissues and organs. Features include hypertrophic cardiomyopathy, hepatomegaly and liver dysfunction, hypotonia, muscle weakness, exercise intolerance, developmental delay, delayed motor development and mental retardation. Some affected individuals manifest a fatal hypertrophic cardiomyopathy resulting in neonatal death. A subset of patients manifest Leigh syndrome. {ECO 0000269|PubMed 10486321}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DrugBank DB02659 Cholic Acid # Ensembl ENST00000361739 ENSP00000354876; ENSG00000198712 # ExpressionAtlas P00403 baseline and differential # FUNCTION COX2_HUMAN Cytochrome c oxidase is the component of the respiratory chain that catalyzes the reduction of oxygen to water. Subunits 1- 3 form the functional core of the enzyme complex. Subunit 2 transfers the electrons from cytochrome c via its binuclear copper A center to the bimetallic center of the catalytic subunit 1. # GO_component GO:0005739 mitochondrion; IDA:UniProtKB. # GO_component GO:0005743 mitochondrial inner membrane; TAS:Reactome. # GO_component GO:0005751 mitochondrial respiratory chain complex IV; IBA:GO_Central. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0045277 respiratory chain complex IV; IDA:UniProtKB. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0004129 cytochrome-c oxidase activity; NAS:UniProtKB. # GO_function GO:0005507 copper ion binding; IEA:InterPro. # GO_process GO:0006123 mitochondrial electron transport, cytochrome c to oxygen; NAS:UniProtKB. # GO_process GO:0007595 lactation; IEA:Ensembl. # GO_process GO:0009409 response to cold; IEA:Ensembl. # GO_process GO:0042773 ATP synthesis coupled electron transport; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005739 mitochondrion # GOslim_component GO:0043226 organelle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0016491 oxidoreductase activity # GOslim_function GO:0022857 transmembrane transporter activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006091 generation of precursor metabolites and energy # GOslim_process GO:0006810 transport # GOslim_process GO:0006950 response to stress # Gene3D 1.10.287.90 -; 1. # Gene3D 2.60.40.420 -; 1. # Genevisible P00403 HS # HGNC HGNC:7421 MT-CO2 # INTERACTION COX2_HUMAN P49281-3 SLC11A2; NbExp=2; IntAct=EBI-2105756, EBI-10828817; # IntAct P00403 29 # InterPro IPR001505 Copper_CuA # InterPro IPR002429 Cyt_c_oxidase_su2_C # InterPro IPR008972 Cupredoxin # InterPro IPR011759 Cyt_c_oxidase_su2_TM_dom # InterPro IPR014222 Cyt_c_oxidase_su2 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Disease H01368:[Inherited metabolic disease; Mitochondrial disease] Leber Hereditary Optic Neuropathy (LHON) [DS H00068] # KEGG_Pathway ko00190 Oxidative phosphorylation # KEGG_Pathway ko04260 Cardiac muscle contraction # KEGG_Pathway ko05010 Alzheimer's disease # KEGG_Pathway ko05012 Parkinson's disease # KEGG_Pathway ko05016 Huntington's disease # MIM 220110 phenotype # MIM 516040 gene # Organism COX2_HUMAN Homo sapiens (Human) # Orphanet 254905 Isolated cytochrome C oxidase deficiency # Orphanet 255210 Maternally-inherited Leigh syndrome # Orphanet 550 MELAS # PDB 3VRJ X-ray; 1.90 A; C=46-55 # PIR A00472 OBHU2 # PROSITE PS00078 COX2 # PROSITE PS50857 COX2_CUA # PROSITE PS50999 COX2_TM # Pfam PF00116 COX2 # Pfam PF02790 COX2_TM # Proteomes UP000005640 Mitochondrion # Reactome R-HSA-5628897 TP53 Regulates Metabolic Genes # Reactome R-HSA-611105 Respiratory electron transport # RecName COX2_HUMAN Cytochrome c oxidase subunit 2 # RefSeq YP_003024029 NC_012920.1 # SIMILARITY Belongs to the cytochrome c oxidase subunit 2 family. {ECO 0000305}. # SUBCELLULAR LOCATION COX2_HUMAN Mitochondrion inner membrane; Multi-pass membrane protein. # SUPFAM SSF49503 SSF49503 # SUPFAM SSF81464 SSF81464 # TCDB 3.D.4.11 the proton-translocating cytochrome oxidase (cox) superfamily # TIGRFAMs TIGR02866 CoxB # eggNOG COG1622 LUCA # eggNOG KOG4767 Eukaryota BLAST swissprot:COX2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:COX2_HUMAN BioCyc ZFISH:HS00027-MONOMER http://biocyc.org/getid?id=ZFISH:HS00027-MONOMER COG COG1622 http://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=COG1622 COXPRESdb 4513 http://coxpresdb.jp/data/gene/4513.shtml DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1007/BF00206061 http://dx.doi.org/10.1007/BF00206061 DOI 10.1007/s00414-004-0427-6 http://dx.doi.org/10.1007/s00414-004-0427-6 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1038/282189a0 http://dx.doi.org/10.1038/282189a0 DOI 10.1038/290457a0 http://dx.doi.org/10.1038/290457a0 DOI 10.1038/3108 http://dx.doi.org/10.1038/3108 DOI 10.1038/35047064 http://dx.doi.org/10.1038/35047064 DOI 10.1073/pnas.92.2.532 http://dx.doi.org/10.1073/pnas.92.2.532 DOI 10.1086/302590 http://dx.doi.org/10.1086/302590 DOI 10.1093/molbev/msg230 http://dx.doi.org/10.1093/molbev/msg230 DOI 10.1093/nar/17.16.6734 http://dx.doi.org/10.1093/nar/17.16.6734 DOI 10.1101/gr.686603 http://dx.doi.org/10.1101/gr.686603 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DrugBank DB02659 http://www.drugbank.ca/drugs/DB02659 EMBL AF004339 http://www.ebi.ac.uk/ena/data/view/AF004339 EMBL AF346963 http://www.ebi.ac.uk/ena/data/view/AF346963 EMBL AF346964 http://www.ebi.ac.uk/ena/data/view/AF346964 EMBL AF346965 http://www.ebi.ac.uk/ena/data/view/AF346965 EMBL AF346966 http://www.ebi.ac.uk/ena/data/view/AF346966 EMBL AF346967 http://www.ebi.ac.uk/ena/data/view/AF346967 EMBL AF346970 http://www.ebi.ac.uk/ena/data/view/AF346970 EMBL AF346972 http://www.ebi.ac.uk/ena/data/view/AF346972 EMBL AF346973 http://www.ebi.ac.uk/ena/data/view/AF346973 EMBL AF346974 http://www.ebi.ac.uk/ena/data/view/AF346974 EMBL AF346975 http://www.ebi.ac.uk/ena/data/view/AF346975 EMBL AF346976 http://www.ebi.ac.uk/ena/data/view/AF346976 EMBL AF346977 http://www.ebi.ac.uk/ena/data/view/AF346977 EMBL AF346978 http://www.ebi.ac.uk/ena/data/view/AF346978 EMBL AF346979 http://www.ebi.ac.uk/ena/data/view/AF346979 EMBL AF346980 http://www.ebi.ac.uk/ena/data/view/AF346980 EMBL AF346981 http://www.ebi.ac.uk/ena/data/view/AF346981 EMBL AF346982 http://www.ebi.ac.uk/ena/data/view/AF346982 EMBL AF346983 http://www.ebi.ac.uk/ena/data/view/AF346983 EMBL AF346984 http://www.ebi.ac.uk/ena/data/view/AF346984 EMBL AF346985 http://www.ebi.ac.uk/ena/data/view/AF346985 EMBL AF346986 http://www.ebi.ac.uk/ena/data/view/AF346986 EMBL AF346988 http://www.ebi.ac.uk/ena/data/view/AF346988 EMBL AF346989 http://www.ebi.ac.uk/ena/data/view/AF346989 EMBL AF346990 http://www.ebi.ac.uk/ena/data/view/AF346990 EMBL AF346991 http://www.ebi.ac.uk/ena/data/view/AF346991 EMBL AF346993 http://www.ebi.ac.uk/ena/data/view/AF346993 EMBL AF346994 http://www.ebi.ac.uk/ena/data/view/AF346994 EMBL AF346995 http://www.ebi.ac.uk/ena/data/view/AF346995 EMBL AF346998 http://www.ebi.ac.uk/ena/data/view/AF346998 EMBL AF346999 http://www.ebi.ac.uk/ena/data/view/AF346999 EMBL AF347000 http://www.ebi.ac.uk/ena/data/view/AF347000 EMBL AF347001 http://www.ebi.ac.uk/ena/data/view/AF347001 EMBL AF347002 http://www.ebi.ac.uk/ena/data/view/AF347002 EMBL AF347003 http://www.ebi.ac.uk/ena/data/view/AF347003 EMBL AF347004 http://www.ebi.ac.uk/ena/data/view/AF347004 EMBL AF347005 http://www.ebi.ac.uk/ena/data/view/AF347005 EMBL AF347006 http://www.ebi.ac.uk/ena/data/view/AF347006 EMBL AF347007 http://www.ebi.ac.uk/ena/data/view/AF347007 EMBL AF347009 http://www.ebi.ac.uk/ena/data/view/AF347009 EMBL AF347010 http://www.ebi.ac.uk/ena/data/view/AF347010 EMBL AF347011 http://www.ebi.ac.uk/ena/data/view/AF347011 EMBL AF347014 http://www.ebi.ac.uk/ena/data/view/AF347014 EMBL AF347015 http://www.ebi.ac.uk/ena/data/view/AF347015 EMBL AY289051 http://www.ebi.ac.uk/ena/data/view/AY289051 EMBL AY289053 http://www.ebi.ac.uk/ena/data/view/AY289053 EMBL AY289054 http://www.ebi.ac.uk/ena/data/view/AY289054 EMBL AY289056 http://www.ebi.ac.uk/ena/data/view/AY289056 EMBL AY289057 http://www.ebi.ac.uk/ena/data/view/AY289057 EMBL AY289058 http://www.ebi.ac.uk/ena/data/view/AY289058 EMBL AY289059 http://www.ebi.ac.uk/ena/data/view/AY289059 EMBL AY289060 http://www.ebi.ac.uk/ena/data/view/AY289060 EMBL AY289061 http://www.ebi.ac.uk/ena/data/view/AY289061 EMBL AY289062 http://www.ebi.ac.uk/ena/data/view/AY289062 EMBL AY289063 http://www.ebi.ac.uk/ena/data/view/AY289063 EMBL AY289064 http://www.ebi.ac.uk/ena/data/view/AY289064 EMBL AY289065 http://www.ebi.ac.uk/ena/data/view/AY289065 EMBL AY289066 http://www.ebi.ac.uk/ena/data/view/AY289066 EMBL AY289067 http://www.ebi.ac.uk/ena/data/view/AY289067 EMBL AY289068 http://www.ebi.ac.uk/ena/data/view/AY289068 EMBL AY289069 http://www.ebi.ac.uk/ena/data/view/AY289069 EMBL AY289071 http://www.ebi.ac.uk/ena/data/view/AY289071 EMBL AY289072 http://www.ebi.ac.uk/ena/data/view/AY289072 EMBL AY289073 http://www.ebi.ac.uk/ena/data/view/AY289073 EMBL AY289074 http://www.ebi.ac.uk/ena/data/view/AY289074 EMBL AY289075 http://www.ebi.ac.uk/ena/data/view/AY289075 EMBL AY289076 http://www.ebi.ac.uk/ena/data/view/AY289076 EMBL AY289077 http://www.ebi.ac.uk/ena/data/view/AY289077 EMBL AY289078 http://www.ebi.ac.uk/ena/data/view/AY289078 EMBL AY289079 http://www.ebi.ac.uk/ena/data/view/AY289079 EMBL AY289080 http://www.ebi.ac.uk/ena/data/view/AY289080 EMBL AY289081 http://www.ebi.ac.uk/ena/data/view/AY289081 EMBL AY289082 http://www.ebi.ac.uk/ena/data/view/AY289082 EMBL AY289083 http://www.ebi.ac.uk/ena/data/view/AY289083 EMBL AY289084 http://www.ebi.ac.uk/ena/data/view/AY289084 EMBL AY289085 http://www.ebi.ac.uk/ena/data/view/AY289085 EMBL AY289086 http://www.ebi.ac.uk/ena/data/view/AY289086 EMBL AY289087 http://www.ebi.ac.uk/ena/data/view/AY289087 EMBL AY289088 http://www.ebi.ac.uk/ena/data/view/AY289088 EMBL AY289089 http://www.ebi.ac.uk/ena/data/view/AY289089 EMBL AY289090 http://www.ebi.ac.uk/ena/data/view/AY289090 EMBL AY289091 http://www.ebi.ac.uk/ena/data/view/AY289091 EMBL AY289092 http://www.ebi.ac.uk/ena/data/view/AY289092 EMBL AY289093 http://www.ebi.ac.uk/ena/data/view/AY289093 EMBL AY289094 http://www.ebi.ac.uk/ena/data/view/AY289094 EMBL AY289095 http://www.ebi.ac.uk/ena/data/view/AY289095 EMBL AY289096 http://www.ebi.ac.uk/ena/data/view/AY289096 EMBL AY289099 http://www.ebi.ac.uk/ena/data/view/AY289099 EMBL AY289100 http://www.ebi.ac.uk/ena/data/view/AY289100 EMBL AY289102 http://www.ebi.ac.uk/ena/data/view/AY289102 EMBL AY339402 http://www.ebi.ac.uk/ena/data/view/AY339402 EMBL AY339403 http://www.ebi.ac.uk/ena/data/view/AY339403 EMBL AY339404 http://www.ebi.ac.uk/ena/data/view/AY339404 EMBL AY339405 http://www.ebi.ac.uk/ena/data/view/AY339405 EMBL AY339406 http://www.ebi.ac.uk/ena/data/view/AY339406 EMBL AY339407 http://www.ebi.ac.uk/ena/data/view/AY339407 EMBL AY339408 http://www.ebi.ac.uk/ena/data/view/AY339408 EMBL AY339409 http://www.ebi.ac.uk/ena/data/view/AY339409 EMBL AY339410 http://www.ebi.ac.uk/ena/data/view/AY339410 EMBL AY339411 http://www.ebi.ac.uk/ena/data/view/AY339411 EMBL AY339412 http://www.ebi.ac.uk/ena/data/view/AY339412 EMBL AY339413 http://www.ebi.ac.uk/ena/data/view/AY339413 EMBL AY339414 http://www.ebi.ac.uk/ena/data/view/AY339414 EMBL AY339415 http://www.ebi.ac.uk/ena/data/view/AY339415 EMBL AY339416 http://www.ebi.ac.uk/ena/data/view/AY339416 EMBL AY339417 http://www.ebi.ac.uk/ena/data/view/AY339417 EMBL AY339418 http://www.ebi.ac.uk/ena/data/view/AY339418 EMBL AY339419 http://www.ebi.ac.uk/ena/data/view/AY339419 EMBL AY339420 http://www.ebi.ac.uk/ena/data/view/AY339420 EMBL AY339421 http://www.ebi.ac.uk/ena/data/view/AY339421 EMBL AY339422 http://www.ebi.ac.uk/ena/data/view/AY339422 EMBL AY339423 http://www.ebi.ac.uk/ena/data/view/AY339423 EMBL AY339424 http://www.ebi.ac.uk/ena/data/view/AY339424 EMBL AY339425 http://www.ebi.ac.uk/ena/data/view/AY339425 EMBL AY339426 http://www.ebi.ac.uk/ena/data/view/AY339426 EMBL AY339427 http://www.ebi.ac.uk/ena/data/view/AY339427 EMBL AY339428 http://www.ebi.ac.uk/ena/data/view/AY339428 EMBL AY339429 http://www.ebi.ac.uk/ena/data/view/AY339429 EMBL AY339430 http://www.ebi.ac.uk/ena/data/view/AY339430 EMBL AY339431 http://www.ebi.ac.uk/ena/data/view/AY339431 EMBL AY339432 http://www.ebi.ac.uk/ena/data/view/AY339432 EMBL AY339433 http://www.ebi.ac.uk/ena/data/view/AY339433 EMBL AY339434 http://www.ebi.ac.uk/ena/data/view/AY339434 EMBL AY339435 http://www.ebi.ac.uk/ena/data/view/AY339435 EMBL AY339436 http://www.ebi.ac.uk/ena/data/view/AY339436 EMBL AY339437 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http://www.ebi.ac.uk/ena/data/view/AY495263 EMBL AY495264 http://www.ebi.ac.uk/ena/data/view/AY495264 EMBL AY495265 http://www.ebi.ac.uk/ena/data/view/AY495265 EMBL AY495266 http://www.ebi.ac.uk/ena/data/view/AY495266 EMBL AY495267 http://www.ebi.ac.uk/ena/data/view/AY495267 EMBL AY495268 http://www.ebi.ac.uk/ena/data/view/AY495268 EMBL AY495269 http://www.ebi.ac.uk/ena/data/view/AY495269 EMBL AY495270 http://www.ebi.ac.uk/ena/data/view/AY495270 EMBL AY495271 http://www.ebi.ac.uk/ena/data/view/AY495271 EMBL AY495272 http://www.ebi.ac.uk/ena/data/view/AY495272 EMBL AY495273 http://www.ebi.ac.uk/ena/data/view/AY495273 EMBL AY495274 http://www.ebi.ac.uk/ena/data/view/AY495274 EMBL AY495275 http://www.ebi.ac.uk/ena/data/view/AY495275 EMBL AY495276 http://www.ebi.ac.uk/ena/data/view/AY495276 EMBL AY495277 http://www.ebi.ac.uk/ena/data/view/AY495277 EMBL AY495278 http://www.ebi.ac.uk/ena/data/view/AY495278 EMBL AY495279 http://www.ebi.ac.uk/ena/data/view/AY495279 EMBL AY495280 http://www.ebi.ac.uk/ena/data/view/AY495280 EMBL AY495281 http://www.ebi.ac.uk/ena/data/view/AY495281 EMBL AY495282 http://www.ebi.ac.uk/ena/data/view/AY495282 EMBL AY495283 http://www.ebi.ac.uk/ena/data/view/AY495283 EMBL AY495284 http://www.ebi.ac.uk/ena/data/view/AY495284 EMBL AY495285 http://www.ebi.ac.uk/ena/data/view/AY495285 EMBL AY495286 http://www.ebi.ac.uk/ena/data/view/AY495286 EMBL AY495287 http://www.ebi.ac.uk/ena/data/view/AY495287 EMBL AY495288 http://www.ebi.ac.uk/ena/data/view/AY495288 EMBL AY495289 http://www.ebi.ac.uk/ena/data/view/AY495289 EMBL AY495290 http://www.ebi.ac.uk/ena/data/view/AY495290 EMBL AY495291 http://www.ebi.ac.uk/ena/data/view/AY495291 EMBL AY495292 http://www.ebi.ac.uk/ena/data/view/AY495292 EMBL AY495293 http://www.ebi.ac.uk/ena/data/view/AY495293 EMBL AY495294 http://www.ebi.ac.uk/ena/data/view/AY495294 EMBL AY495295 http://www.ebi.ac.uk/ena/data/view/AY495295 EMBL AY495296 http://www.ebi.ac.uk/ena/data/view/AY495296 EMBL AY495297 http://www.ebi.ac.uk/ena/data/view/AY495297 EMBL AY495298 http://www.ebi.ac.uk/ena/data/view/AY495298 EMBL AY495299 http://www.ebi.ac.uk/ena/data/view/AY495299 EMBL AY495300 http://www.ebi.ac.uk/ena/data/view/AY495300 EMBL AY495301 http://www.ebi.ac.uk/ena/data/view/AY495301 EMBL AY495302 http://www.ebi.ac.uk/ena/data/view/AY495302 EMBL AY495303 http://www.ebi.ac.uk/ena/data/view/AY495303 EMBL AY495304 http://www.ebi.ac.uk/ena/data/view/AY495304 EMBL AY495305 http://www.ebi.ac.uk/ena/data/view/AY495305 EMBL AY495306 http://www.ebi.ac.uk/ena/data/view/AY495306 EMBL AY495307 http://www.ebi.ac.uk/ena/data/view/AY495307 EMBL AY495308 http://www.ebi.ac.uk/ena/data/view/AY495308 EMBL AY495309 http://www.ebi.ac.uk/ena/data/view/AY495309 EMBL AY495310 http://www.ebi.ac.uk/ena/data/view/AY495310 EMBL AY495311 http://www.ebi.ac.uk/ena/data/view/AY495311 EMBL AY495312 http://www.ebi.ac.uk/ena/data/view/AY495312 EMBL AY495313 http://www.ebi.ac.uk/ena/data/view/AY495313 EMBL AY495314 http://www.ebi.ac.uk/ena/data/view/AY495314 EMBL AY495315 http://www.ebi.ac.uk/ena/data/view/AY495315 EMBL AY495316 http://www.ebi.ac.uk/ena/data/view/AY495316 EMBL AY495317 http://www.ebi.ac.uk/ena/data/view/AY495317 EMBL AY495318 http://www.ebi.ac.uk/ena/data/view/AY495318 EMBL AY495319 http://www.ebi.ac.uk/ena/data/view/AY495319 EMBL AY495320 http://www.ebi.ac.uk/ena/data/view/AY495320 EMBL AY495321 http://www.ebi.ac.uk/ena/data/view/AY495321 EMBL AY495322 http://www.ebi.ac.uk/ena/data/view/AY495322 EMBL AY495323 http://www.ebi.ac.uk/ena/data/view/AY495323 EMBL AY495325 http://www.ebi.ac.uk/ena/data/view/AY495325 EMBL AY495326 http://www.ebi.ac.uk/ena/data/view/AY495326 EMBL AY495327 http://www.ebi.ac.uk/ena/data/view/AY495327 EMBL AY495328 http://www.ebi.ac.uk/ena/data/view/AY495328 EMBL AY495329 http://www.ebi.ac.uk/ena/data/view/AY495329 EMBL AY495330 http://www.ebi.ac.uk/ena/data/view/AY495330 EMBL D38112 http://www.ebi.ac.uk/ena/data/view/D38112 EMBL J01415 http://www.ebi.ac.uk/ena/data/view/J01415 EMBL M25171 http://www.ebi.ac.uk/ena/data/view/M25171 EMBL U12690 http://www.ebi.ac.uk/ena/data/view/U12690 EMBL U12691 http://www.ebi.ac.uk/ena/data/view/U12691 EMBL U12692 http://www.ebi.ac.uk/ena/data/view/U12692 EMBL U12693 http://www.ebi.ac.uk/ena/data/view/U12693 EMBL U12694 http://www.ebi.ac.uk/ena/data/view/U12694 EMBL V00662 http://www.ebi.ac.uk/ena/data/view/V00662 EMBL X15759 http://www.ebi.ac.uk/ena/data/view/X15759 EMBL X55654 http://www.ebi.ac.uk/ena/data/view/X55654 Ensembl ENST00000361739 http://www.ensembl.org/id/ENST00000361739 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0005743 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005743 GO_component GO:0005751 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005751 GO_component GO:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_component GO:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0045277 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045277 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0004129 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004129 GO_function GO:0005507 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005507 GO_process GO:0006123 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006123 GO_process GO:0007595 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007595 GO_process GO:0009409 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009409 GO_process GO:0042773 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042773 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0016491 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016491 GOslim_function GO:0022857 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006091 GOslim_process GO:0006810 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810 GOslim_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 Gene3D 1.10.287.90 http://www.cathdb.info/version/latest/superfamily/1.10.287.90 Gene3D 2.60.40.420 http://www.cathdb.info/version/latest/superfamily/2.60.40.420 GeneCards MT-CO2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=MT-CO2 GeneID 4513 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=4513 GeneTree ENSGT00390000017410 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000017410 H-InvDB HIX0080298 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0080298 HGNC HGNC:7421 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:7421 HOGENOM HOG000264988 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000264988&db=HOGENOM6 HOVERGEN HBG012727 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG012727&db=HOVERGEN HPA CAB016243 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB016243 HPA HPA051505 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA051505 HPA HPA054758 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA054758 InParanoid P00403 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P00403 IntAct P00403 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P00403* InterPro IPR001505 http://www.ebi.ac.uk/interpro/entry/IPR001505 InterPro IPR002429 http://www.ebi.ac.uk/interpro/entry/IPR002429 InterPro IPR008972 http://www.ebi.ac.uk/interpro/entry/IPR008972 InterPro IPR011759 http://www.ebi.ac.uk/interpro/entry/IPR011759 InterPro IPR014222 http://www.ebi.ac.uk/interpro/entry/IPR014222 Jabion 4513 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=4513 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko00002 http://www.genome.jp/dbget-bin/www_bget?ko00002 KEGG_Disease H01368 http://www.genome.jp/dbget-bin/www_bget?H01368 KEGG_Gene hsa:4513 http://www.genome.jp/dbget-bin/www_bget?hsa:4513 KEGG_Orthology KO:K02261 http://www.genome.jp/dbget-bin/www_bget?KO:K02261 KEGG_Pathway ko00190 http://www.genome.jp/kegg-bin/show_pathway?ko00190 KEGG_Pathway ko04260 http://www.genome.jp/kegg-bin/show_pathway?ko04260 KEGG_Pathway ko05010 http://www.genome.jp/kegg-bin/show_pathway?ko05010 KEGG_Pathway ko05012 http://www.genome.jp/kegg-bin/show_pathway?ko05012 KEGG_Pathway ko05016 http://www.genome.jp/kegg-bin/show_pathway?ko05016 MIM 220110 http://www.ncbi.nlm.nih.gov/omim/220110 MIM 516040 http://www.ncbi.nlm.nih.gov/omim/516040 MINT MINT-2799304 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-2799304 OMA PLKIFEM http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=PLKIFEM Orphanet 254905 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=254905 Orphanet 255210 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=255210 Orphanet 550 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=550 OrthoDB EOG091G0IO9 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0IO9 PDB 3VRJ http://www.ebi.ac.uk/pdbe-srv/view/entry/3VRJ PDBsum 3VRJ http://www.ebi.ac.uk/pdbsum/3VRJ PROSITE PS00078 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00078 PROSITE PS50857 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50857 PROSITE PS50999 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50999 PSORT swissprot:COX2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:COX2_HUMAN PSORT-B swissprot:COX2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:COX2_HUMAN PSORT2 swissprot:COX2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:COX2_HUMAN Pfam PF00116 http://pfam.xfam.org/family/PF00116 Pfam PF02790 http://pfam.xfam.org/family/PF02790 PharmGKB PA31227 http://www.pharmgkb.org/do/serve?objId=PA31227&objCls=Gene Phobius swissprot:COX2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:COX2_HUMAN PhylomeDB P00403 http://phylomedb.org/?seqid=P00403 ProteinModelPortal P00403 http://www.proteinmodelportal.org/query/uniprot/P00403 PubMed 10486321 http://www.ncbi.nlm.nih.gov/pubmed/10486321 PubMed 11130070 http://www.ncbi.nlm.nih.gov/pubmed/11130070 PubMed 12840039 http://www.ncbi.nlm.nih.gov/pubmed/12840039 PubMed 12949126 http://www.ncbi.nlm.nih.gov/pubmed/12949126 PubMed 14760490 http://www.ncbi.nlm.nih.gov/pubmed/14760490 PubMed 1757091 http://www.ncbi.nlm.nih.gov/pubmed/1757091 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 226894 http://www.ncbi.nlm.nih.gov/pubmed/226894 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 2550900 http://www.ncbi.nlm.nih.gov/pubmed/2550900 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 7219534 http://www.ncbi.nlm.nih.gov/pubmed/7219534 PubMed 7530363 http://www.ncbi.nlm.nih.gov/pubmed/7530363 PubMed 8277847 http://www.ncbi.nlm.nih.gov/pubmed/8277847 PubMed 9806551 http://www.ncbi.nlm.nih.gov/pubmed/9806551 Reactome R-HSA-5628897 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5628897 Reactome R-HSA-611105 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-611105 RefSeq YP_003024029 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=YP_003024029 SMR P00403 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P00403 STRING 9606.ENSP00000354876 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000354876&targetmode=cogs STRING COG1622 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=COG1622&targetmode=cogs SUPFAM SSF49503 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF49503 SUPFAM SSF81464 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81464 TCDB 3.D.4.11 http://www.tcdb.org/search/result.php?tc=3.D.4.11 TIGRFAMs TIGR02866 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR02866 UniProtKB COX2_HUMAN http://www.uniprot.org/uniprot/COX2_HUMAN UniProtKB-AC P00403 http://www.uniprot.org/uniprot/P00403 charge swissprot:COX2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:COX2_HUMAN eggNOG COG1622 http://eggnogapi.embl.de/nog_data/html/tree/COG1622 eggNOG KOG4767 http://eggnogapi.embl.de/nog_data/html/tree/KOG4767 epestfind swissprot:COX2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:COX2_HUMAN garnier swissprot:COX2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:COX2_HUMAN helixturnhelix swissprot:COX2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:COX2_HUMAN hmoment swissprot:COX2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:COX2_HUMAN iep swissprot:COX2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:COX2_HUMAN inforesidue swissprot:COX2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:COX2_HUMAN neXtProt NX_P00403 http://www.nextprot.org/db/entry/NX_P00403 octanol swissprot:COX2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:COX2_HUMAN pepcoil swissprot:COX2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:COX2_HUMAN pepdigest swissprot:COX2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:COX2_HUMAN pepinfo swissprot:COX2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:COX2_HUMAN pepnet swissprot:COX2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:COX2_HUMAN pepstats swissprot:COX2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:COX2_HUMAN pepwheel swissprot:COX2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:COX2_HUMAN pepwindow swissprot:COX2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:COX2_HUMAN sigcleave swissprot:COX2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:COX2_HUMAN